From 4b6ca557f6aab30b27cc53ea87e37e09f7bf93f5 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 9 Feb 2024 16:49:06 +0200 Subject: [PATCH] Data release files 09.02.2024 --- docs/metrics/doid.md | 2 +- docs/metrics/gard.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 26 +- docs/metrics/ordo.md | 6 +- docs/reports/mapped_deprecated.md | 2 +- docs/reports/migrate.md | 2 +- docs/reports/migrate_omim.md | 46 +- docs/reports/unmapped.md | 2 +- docs/reports/unmapped_omim.md | 46 +- src/mappings/gard.sssom.tsv | 2 +- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- src/mappings/ncit.sssom.tsv | 2 +- src/mappings/omim.sssom.tsv | 140656 +++++++++------ src/mappings/ordo.sssom.tsv | 6463 + src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 32 +- src/ontology/lexmatch/all_exact.robot.tsv | 1658 +- .../mondo-only/unmapped_omim_mondo.tsv | 5 - .../mondo_closematch_doid.tsv | 362 + .../mondo_closematch_omim.tsv | 87 +- .../mondo_closematch_omimps.tsv | 2 - .../mondo_closematch_orphanet.tsv | 23 + .../mondo_exactmatch_doid.tsv | 4 + .../mondo_exactmatch_omim.tsv | 16 +- .../mondo_exactmatch_omimps.tsv | 8 - src/ontology/lexmatch/unmapped_doid_lex.tsv | 3 + .../lexmatch/unmapped_doid_lex_exact.tsv | 1 + src/ontology/lexmatch/unmapped_omim_lex.tsv | 18 +- .../lexmatch/unmapped_omim_lex_exact.tsv | 1 - src/ontology/metadata/doid-metrics.json | 2 +- src/ontology/metadata/gard-metrics.json | 2 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 98 +- src/ontology/metadata/ordo-metrics.json | 14 +- .../reports/component_signature-omim.tsv | 1158 +- .../reports/doid.subclass.added.robot.tsv | 6 +- .../reports/doid.subclass.confirmed.robot.tsv | 1 + .../reports/mirror_signature-mondo.tsv | 28 + .../reports/mirror_signature-omim.tsv | 3668 +- .../reports/omim.subclass.added.robot.tsv | 5 - .../reports/omim.subclass.confirmed.robot.tsv | 40 +- .../omim_exclusion_reasons.robot.template.tsv | 43 +- src/ontology/reports/omim_mapping_status.tsv | 98 +- src/ontology/reports/omim_term_exclusions.txt | 13 +- src/ontology/reports/omim_unmapped_terms.tsv | 38 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 47141 ++--- src/ontology/slurp/omim.tsv | 40 +- 54 files changed, 115947 insertions(+), 85949 deletions(-) diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 01117d3c..33ed5ed9 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index 3931a246..d875f7f0 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 1ceedd09..b75370ed 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 4a796950..c0b3ab6d 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 20bef2da..5a98b4fc 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 930ce18a..8e23b213 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,17 +2,17 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | -| Annotation properties | 13 | -| Axioms | 320535 | -| Logical axioms | 19160 | -| Classes | 19392 | -| Object properties | 6 | +| Annotation properties | 16 | +| Axioms | 344611 | +| Logical axioms | 22561 | +| Classes | 19399 | +| Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,16 +32,16 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 281968 | -| Declaration | 19407 | -| SubClassOf | 19160 | +| AnnotationAssertion | 302632 | +| Declaration | 19418 | +| SubClassOf | 22561 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 17946 | +| prefix_unknown | 17956 | | MONDO | 1 | | oboInOwl | 3 | | owl | 2 | @@ -52,15 +52,15 @@ | rdfs | 2 | | CHR | 1446 | | biolink | 2 | -| RO | 6 | +| RO | 7 | #### Class expressions used | Metric | Value | | ------ | ----- | -| Class | 57706 | -| ObjectSomeValuesFrom | 14306 | +| Class | 64513 | +| ObjectSomeValuesFrom | 17706 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 5b23c3fe..8395a8d8 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,14 +2,14 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/ordo.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 8 | -| Axioms | 155842 | +| Axioms | 162312 | | Logical axioms | 42481 | | Classes | 14917 | | Object properties | 3 | @@ -32,7 +32,7 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 98435 | +| AnnotationAssertion | 104905 | | Declaration | 14926 | | SubClassOf | 42481 | diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 82530f6b..60069e8c 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -5,9 +5,9 @@ | [DOID](./mapped_deprecated_doid.md) | 3 | | [ORDO](./mapped_deprecated_ordo.md) | 225 | | [NCIT](./mapped_deprecated_ncit.md) | 12 | +| [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | -| [GARD](./mapped_deprecated_gard.md) | 0 | `Ontology`: Name of ontology `Tot deprecated in Mondo`: Total terms that the ontology source itself has deprecated which have existing xrefs in Mondo diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 45e15b39..52958c9f 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -3,7 +3,7 @@ |:----------------------------------|:------| | [ORDO](./migrate_ordo.md) | 97 | | [GARD](./migrate_gard.md) | 9,370 | -| [OMIM](./migrate_omim.md) | 32 | +| [OMIM](./migrate_omim.md) | 8 | | [NCIT](./migrate_ncit.md) | 2,179 | | [DOID](./migrate_doid.md) | 188 | | [ICD10WHO](./migrate_icd10who.md) | 119 | diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 4ff003be..8ac86a81 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,38 +2,14 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:-----------------------------------------------------------------------|:---------------------|:---------------------------|:-----------------------------------------------------------------------|:--------------|:----------------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0957597 | li-fraumeni syndrome | OMIMPS:151623 | MONDO:equivalentTo | Li-Fraumeni syndrome | | | -| MONDO:0958027 | fg syndrome | OMIMPS:305450 | MONDO:equivalentTo | FG syndrome | | | -| MONDO:0958030 | immunodeficiency 118 | OMIM:301115 | MONDO:equivalentTo | immunodeficiency 118 | | MONDO:0021094 | -| MONDO:0958034 | lipodystrophy, familial partial, iia 9 | OMIM:620683 | MONDO:equivalentTo | lipodystrophy, familial partial, iia 9 | | | -| MONDO:0958035 | premature ovarian failure 23 | OMIM:620686 | MONDO:equivalentTo | premature ovarian failure 23 | | MONDO:0019852 | -| MONDO:0958037 | developmental dysplasia of the hip 3 | OMIM:620690 | MONDO:equivalentTo | developmental dysplasia of the hip 3 | | | -| MONDO:0958039 | myoclonic epilepsy of lafora | OMIMPS:254780 | MONDO:equivalentTo | Myoclonic epilepsy of Lafora | | | -| MONDO:0958040 | supranuclear palsy, progressive | OMIMPS:601104 | MONDO:equivalentTo | Supranuclear palsy, progressive | | | -| MONDO:0958174 | basal cell nevus syndrome 1 | OMIM:109400 | MONDO:equivalentTo | basal cell nevus syndrome 1 | | MONDO:0007187 | -| MONDO:0958175 | craniofacial microsomia 1 | OMIM:164210 | MONDO:equivalentTo | craniofacial microsomia 1 | | MONDO:0015397 | -| MONDO:0958176 | oculopharyngeal muscular dystrophy 1 | OMIM:164300 | MONDO:equivalentTo | oculopharyngeal muscular dystrophy 1 | | MONDO:0008116 | -| MONDO:0958177 | chronic recurrent multifocal osteomyelitis 3 | OMIM:259680 | MONDO:equivalentTo | chronic recurrent multifocal osteomyelitis 3 | | MONDO:0009813 | -| MONDO:0958178 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | OMIM:301108 | MONDO:equivalentTo | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | | MONDO:0957400 | -| MONDO:0958179 | glycine encephalopathy 1 | OMIM:605899 | MONDO:equivalentTo | glycine encephalopathy 1 | | MONDO:0011612 | -| MONDO:0958180 | prolonged electroretinal response suppression 1 | OMIM:608415 | MONDO:equivalentTo | prolonged electroretinal response suppression 1 | | MONDO:0012033 | -| MONDO:0958181 | mitochondrial trifunctional protein deficiency 1 | OMIM:609015 | MONDO:equivalentTo | mitochondrial trifunctional protein deficiency 1 | | MONDO:0012172 | -| MONDO:0958182 | c1q deficiency 1 | OMIM:613652 | MONDO:equivalentTo | c1q deficiency 1 | | MONDO:0013343 | -| MONDO:0958183 | leber-like hereditary optic neuropathy, autosomal recessive 1 | OMIM:619382 | MONDO:equivalentTo | leber-like hereditary optic neuropathy, autosomal recessive 1 | | MONDO:0030309|MONDO:0100223 | -| MONDO:0958184 | epidermolytic hyperkeratosis 2 | OMIM:620150 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2 | | MONDO:0957316 | -| MONDO:0958185 | mitochondrial trifunctional protein deficiency 2 | OMIM:620300 | MONDO:equivalentTo | mitochondrial trifunctional protein deficiency 2 | | MONDO:0012172 | -| MONDO:0958186 | hematuria, benign familial, 2 | OMIM:620320 | MONDO:equivalentTo | hematuria, benign familial, 2 | | MONDO:0957317 | -| MONDO:0958187 | c1q deficiency 2 | OMIM:620321 | MONDO:equivalentTo | c1q deficiency 2 | | MONDO:0013343 | -| MONDO:0958188 | c1q deficiency 3 | OMIM:620322 | MONDO:equivalentTo | c1q deficiency 3 | | MONDO:0013343 | -| MONDO:0958189 | basal cell nevus syndrome 2 | OMIM:620343 | MONDO:equivalentTo | basal cell nevus syndrome 2 | | MONDO:0007187 | -| MONDO:0958190 | prolonged electroretinal response suppression 2 | OMIM:620344 | MONDO:equivalentTo | prolonged electroretinal response suppression 2 | | MONDO:0012033 | -| MONDO:0958191 | nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | OMIM:620374 | MONDO:equivalentTo | nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | | MONDO:0957318 | -| MONDO:0958192 | glycine encephalopathy 2 | OMIM:620398 | MONDO:equivalentTo | glycine encephalopathy 2 | | MONDO:0011612 | -| MONDO:0958193 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | OMIM:620425 | MONDO:equivalentTo | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | | MONDO:0957400 | -| MONDO:0958194 | craniofacial microsomia 2 | OMIM:620444 | MONDO:equivalentTo | craniofacial microsomia 2 | | MONDO:0015397 | -| MONDO:0958195 | oculopharyngeal muscular dystrophy 2 | OMIM:620460 | MONDO:equivalentTo | oculopharyngeal muscular dystrophy 2 | | MONDO:0008116 | -| MONDO:0958196 | epilepsy, early-onset, 3, with or without developmental delay | OMIM:620465 | MONDO:equivalentTo | epilepsy, early-onset, 3, with or without developmental delay | | MONDO:0957599 | -| MONDO:0958197 | leber-like hereditary optic neuropathy, autosomal recessive 2 | OMIM:620569 | MONDO:equivalentTo | leber-like hereditary optic neuropathy, autosomal recessive 2 | | MONDO:0030309 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:------------------------------------------------------------|:---------------------|:---------------------------|:------------------------------------------------------------|:--------------|:----------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0958199 | myoclonic epilepsy of lafora 1 | OMIM:254780 | MONDO:equivalentTo | myoclonic epilepsy of lafora 1 | | | +| MONDO:0958200 | intellectual developmental disorder, x-linked 113 | OMIM:301116 | MONDO:equivalentTo | intellectual developmental disorder, X-linked 113 | | | +| MONDO:0958201 | myoclonic epilepsy of lafora 2 | OMIM:620681 | MONDO:equivalentTo | myoclonic epilepsy of lafora 2 | | | +| MONDO:0958202 | moyamoya disease 7 | OMIM:620687 | MONDO:equivalentTo | moyamoya disease 7 | | | +| MONDO:0958203 | intellectual developmental disorder, autosomal dominant 74 | OMIM:620688 | MONDO:equivalentTo | intellectual developmental disorder, autosomal dominant 74 | | | +| MONDO:0958204 | intellectual developmental disorder, autosomal recessive 81 | OMIM:620700 | MONDO:equivalentTo | intellectual developmental disorder, autosomal recessive 81 | | | +| MONDO:0958205 | yuksel-vogel-bauer syndrome | OMIM:620703 | MONDO:equivalentTo | yuksel-vogel-bauer syndrome | | | +| MONDO:0958206 | spermatogenic failure 89 | OMIM:620705 | MONDO:equivalentTo | spermatogenic failure 89 | | | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 3ba64564..4cd6b32b 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -7,7 +7,7 @@ | [DOID](./unmapped_doid.md) | 13,982 | 2,646 | 2,481 | 2,468 | 11,334 | 11,084 | 250 | 2.2% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | | [ORDO](./unmapped_ordo.md) | 10,915 | 1,724 | 1,391 | 1,166 | 9,191 | 9,025 | 166 | 1.8% | -| [OMIM](./unmapped_omim.md) | 29,176 | 19,174 | 1,359 | 1,316 | 8,644 | 8,611 | 33 | 0.4% | +| [OMIM](./unmapped_omim.md) | 29,200 | 19,185 | 1,359 | 1,316 | 8,657 | 8,648 | 9 | 0.1% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index c11c6f20..edfb5e27 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,38 +2,14 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:--------------|:-----------------------------------------------------------------------| -| OMIMPS:305450 | FG syndrome | -| OMIMPS:151623 | Li-Fraumeni syndrome | -| OMIMPS:254780 | Myoclonic epilepsy of Lafora | -| OMIMPS:601104 | Supranuclear palsy, progressive | -| OMIM:109400 | basal cell nevus syndrome 1 | -| OMIM:620343 | basal cell nevus syndrome 2 | -| OMIM:613652 | c1q deficiency 1 | -| OMIM:620321 | c1q deficiency 2 | -| OMIM:620322 | c1q deficiency 3 | -| OMIM:301108 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | -| OMIM:620425 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | -| OMIM:259680 | chronic recurrent multifocal osteomyelitis 3 | -| OMIM:164210 | craniofacial microsomia 1 | -| OMIM:620444 | craniofacial microsomia 2 | -| OMIM:620690 | developmental dysplasia of the hip 3 | -| OMIM:620150 | epidermolytic hyperkeratosis 2 | -| OMIM:620465 | epilepsy, early-onset, 3, with or without developmental delay | -| OMIM:605899 | glycine encephalopathy 1 | -| OMIM:620398 | glycine encephalopathy 2 | -| OMIM:620320 | hematuria, benign familial, 2 | -| OMIM:301115 | immunodeficiency 118 | -| OMIM:619382 | leber-like hereditary optic neuropathy, autosomal recessive 1 | -| OMIM:620569 | leber-like hereditary optic neuropathy, autosomal recessive 2 | -| OMIM:620683 | lipodystrophy, familial partial, iia 9 | -| OMIM:609015 | mitochondrial trifunctional protein deficiency 1 | -| OMIM:620300 | mitochondrial trifunctional protein deficiency 2 | -| OMIM:620681 | myoclonic epilepsy of lafora 2 | -| OMIM:620374 | nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | -| OMIM:164300 | oculopharyngeal muscular dystrophy 1 | -| OMIM:620460 | oculopharyngeal muscular dystrophy 2 | -| OMIM:620686 | premature ovarian failure 23 | -| OMIM:608415 | prolonged electroretinal response suppression 1 | -| OMIM:620344 | prolonged electroretinal response suppression 2 | \ No newline at end of file +| subject_id | subject_label | +|:--------------|:------------------------------------------------------------| +| OMIMPS:151623 | Li-Fraumeni syndrome | +| OMIM:301116 | intellectual developmental disorder, X-linked 113 | +| OMIM:620688 | intellectual developmental disorder, autosomal dominant 74 | +| OMIM:620700 | intellectual developmental disorder, autosomal recessive 81 | +| OMIM:620687 | moyamoya disease 7 | +| OMIM:254780 | myoclonic epilepsy of lafora 1 | +| OMIM:620681 | myoclonic epilepsy of lafora 2 | +| OMIM:620705 | spermatogenic failure 89 | +| OMIM:620703 | yuksel-vogel-bauer syndrome | \ No newline at end of file diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 40f87b57..44f17414 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/4a15181d-230f-4c48-9f33-2a5a80faec32 +# mapping_set_id: https://w3id.org/sssom/mappings/0f932f1d-33d1-4eae-9c51-26987e799234 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index b0824470..162fb1d5 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/b8f1cbe0-0a0c-4135-8cdd-4bd589a50a90 +# mapping_set_id: https://w3id.org/sssom/mappings/c79aa6ad-b388-4a91-a885-cdc56ba4a8c9 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index c49f577f..93e6cd5a 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/a220a858-0168-4443-aa72-d961958866e0 +# mapping_set_id: https://w3id.org/sssom/mappings/5961b953-1818-4d89-bb87-79c127070b8a diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index d5f46bdb..561b92b6 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/e712f5c8-defd-4d42-8a0c-95f94f9e7b28 +# mapping_set_id: https://w3id.org/sssom/mappings/507c4f96-3af4-4e4b-8328-f305bf1bb1f9 subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 5c80391b..7f332aae 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -1,11 +1,13 @@ # creator_id: # - https://orcid.org/0000-0002-2906-7319 # curie_map: +# MONDO: http://purl.obolibrary.org/obo/MONDO_ # OMIM: https://omim.org/entry/ # Orphanet: http://www.orpha.net/ORDO/Orphanet_ # UMLS: http://linkedlifedata.com/resource/umls/id/ # hgnc.symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ # ncbigene: https://www.ncbi.nlm.nih.gov/gene/ +# omim.ps: https://omim.org/MIM:PS # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# @@ -17,60003 +19,80659 @@ # repository (https://github.com/monarch-initiative/mondo-ingest), by running the # command `make ../mappings/omim.sssom.tsv` from within `src/ontology`. ' # mapping_set_id: http://purl.obolibrary.org/obo/mondo/sources/mappings/omim.sssom.tsv -subject_id subject_label predicate_id object_id mapping_justification -OMIM:100100 prune belly syndrome skos:exactMatch Orphanet:2970 semapv:UnspecifiedMatching -OMIM:100100 prune belly syndrome skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching -OMIM:100640 ALDH1A1 skos:exactMatch hgnc.symbol:402 semapv:UnspecifiedMatching -OMIM:100640 ALDH1A1 skos:exactMatch hgnc.symbol:ALDH1A1 semapv:UnspecifiedMatching -OMIM:100640 ALDH1A1 skos:exactMatch ncbigene:216 semapv:UnspecifiedMatching -OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:404 semapv:UnspecifiedMatching -OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:ALDH2 semapv:UnspecifiedMatching -OMIM:100650 ALDH2 skos:exactMatch ncbigene:217 semapv:UnspecifiedMatching -OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:405 semapv:UnspecifiedMatching -OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:ALDH3A1 semapv:UnspecifiedMatching -OMIM:100660 ALDH3A1 skos:exactMatch ncbigene:218 semapv:UnspecifiedMatching -OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:407 semapv:UnspecifiedMatching -OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:ALDH1B1 semapv:UnspecifiedMatching -OMIM:100670 ALDH1B1 skos:exactMatch ncbigene:219 semapv:UnspecifiedMatching -OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:94 semapv:UnspecifiedMatching -OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:ACAT2 semapv:UnspecifiedMatching -OMIM:100678 ACAT2 skos:exactMatch ncbigene:39 semapv:UnspecifiedMatching -OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:1955 semapv:UnspecifiedMatching -OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:CHRNA1 semapv:UnspecifiedMatching -OMIM:100690 CHRNA1 skos:exactMatch ncbigene:1134 semapv:UnspecifiedMatching -OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:1961 semapv:UnspecifiedMatching -OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:CHRNB1 semapv:UnspecifiedMatching -OMIM:100710 CHRNB1 skos:exactMatch ncbigene:1140 semapv:UnspecifiedMatching -OMIM:100720 CHRND skos:exactMatch hgnc.symbol:1965 semapv:UnspecifiedMatching -OMIM:100720 CHRND skos:exactMatch hgnc.symbol:CHRND semapv:UnspecifiedMatching -OMIM:100720 CHRND skos:exactMatch ncbigene:1144 semapv:UnspecifiedMatching -OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:1966 semapv:UnspecifiedMatching -OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:CHRNE semapv:UnspecifiedMatching -OMIM:100725 CHRNE skos:exactMatch ncbigene:1145 semapv:UnspecifiedMatching -OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:1967 semapv:UnspecifiedMatching -OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:CHRNG semapv:UnspecifiedMatching -OMIM:100730 CHRNG skos:exactMatch ncbigene:1146 semapv:UnspecifiedMatching -OMIM:100740 ACHE skos:exactMatch hgnc.symbol:108 semapv:UnspecifiedMatching -OMIM:100740 ACHE skos:exactMatch hgnc.symbol:ACHE semapv:UnspecifiedMatching -OMIM:100740 ACHE skos:exactMatch ncbigene:43 semapv:UnspecifiedMatching -OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:738 semapv:UnspecifiedMatching -OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:ASCL1 semapv:UnspecifiedMatching -OMIM:100790 ASCL1 skos:exactMatch ncbigene:429 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch UMLS:C1412127 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:118 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:ACO2 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch ncbigene:50 semapv:UnspecifiedMatching -OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:117 semapv:UnspecifiedMatching -OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:ACO1 semapv:UnspecifiedMatching -OMIM:100880 ACO1 skos:exactMatch ncbigene:48 semapv:UnspecifiedMatching -OMIM:102480 ACR skos:exactMatch hgnc.symbol:126 semapv:UnspecifiedMatching -OMIM:102480 ACR skos:exactMatch hgnc.symbol:ACR semapv:UnspecifiedMatching -OMIM:102480 ACR skos:exactMatch ncbigene:49 semapv:UnspecifiedMatching -OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:127 semapv:UnspecifiedMatching -OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:ACRV1 semapv:UnspecifiedMatching -OMIM:102525 ACRV1 skos:exactMatch ncbigene:56 semapv:UnspecifiedMatching -OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:143 semapv:UnspecifiedMatching -OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:ACTC1 semapv:UnspecifiedMatching -OMIM:102540 ACTC1 skos:exactMatch ncbigene:70 semapv:UnspecifiedMatching -OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:145 semapv:UnspecifiedMatching -OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:ACTG2 semapv:UnspecifiedMatching -OMIM:102545 ACTG2 skos:exactMatch ncbigene:72 semapv:UnspecifiedMatching -OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:144 semapv:UnspecifiedMatching -OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:ACTG1 semapv:UnspecifiedMatching -OMIM:102560 ACTG1 skos:exactMatch ncbigene:71 semapv:UnspecifiedMatching -OMIM:102565 FLNC skos:exactMatch hgnc.symbol:3756 semapv:UnspecifiedMatching -OMIM:102565 FLNC skos:exactMatch hgnc.symbol:FLNC semapv:UnspecifiedMatching -OMIM:102565 FLNC skos:exactMatch ncbigene:2318 semapv:UnspecifiedMatching -OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:164 semapv:UnspecifiedMatching -OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:ACTN2 semapv:UnspecifiedMatching -OMIM:102573 ACTN2 skos:exactMatch ncbigene:88 semapv:UnspecifiedMatching -OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:165 semapv:UnspecifiedMatching -OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:ACTN3 semapv:UnspecifiedMatching -OMIM:102574 ACTN3 skos:exactMatch ncbigene:89 semapv:UnspecifiedMatching -OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:163 semapv:UnspecifiedMatching -OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:ACTN1 semapv:UnspecifiedMatching -OMIM:102575 ACTN1 skos:exactMatch ncbigene:87 semapv:UnspecifiedMatching -OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:171 semapv:UnspecifiedMatching -OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:ACVR1 semapv:UnspecifiedMatching -OMIM:102576 ACVR1 skos:exactMatch ncbigene:90 semapv:UnspecifiedMatching -OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:9972 semapv:UnspecifiedMatching -OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:RFC4 semapv:UnspecifiedMatching -OMIM:102577 RFC4 skos:exactMatch ncbigene:5984 semapv:UnspecifiedMatching -OMIM:102578 PML skos:exactMatch hgnc.symbol:9113 semapv:UnspecifiedMatching -OMIM:102578 PML skos:exactMatch hgnc.symbol:PML semapv:UnspecifiedMatching -OMIM:102578 PML skos:exactMatch ncbigene:5371 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch UMLS:C1419348 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:9969 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:RFC1 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch ncbigene:5981 semapv:UnspecifiedMatching -OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:173 semapv:UnspecifiedMatching -OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:ACVR2A semapv:UnspecifiedMatching -OMIM:102581 ACVR2A skos:exactMatch ncbigene:92 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch UMLS:C1367307 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch UMLS:C4014795 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch hgnc.symbol:11364 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch hgnc.symbol:STAT3 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch ncbigene:6774 semapv:UnspecifiedMatching -OMIM:102593 AOAH skos:exactMatch hgnc.symbol:548 semapv:UnspecifiedMatching -OMIM:102593 AOAH skos:exactMatch hgnc.symbol:AOAH semapv:UnspecifiedMatching -OMIM:102593 AOAH skos:exactMatch ncbigene:313 semapv:UnspecifiedMatching -OMIM:102595 ACYP2 skos:exactMatch hgnc.symbol:180 semapv:UnspecifiedMatching -OMIM:102595 ACYP2 skos:exactMatch hgnc.symbol:ACYP2 semapv:UnspecifiedMatching -OMIM:102595 ACYP2 skos:exactMatch ncbigene:98 semapv:UnspecifiedMatching -OMIM:102600 APRT skos:exactMatch hgnc.symbol:626 semapv:UnspecifiedMatching -OMIM:102600 APRT skos:exactMatch hgnc.symbol:APRT semapv:UnspecifiedMatching -OMIM:102600 APRT skos:exactMatch ncbigene:353 semapv:UnspecifiedMatching -OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:129 semapv:UnspecifiedMatching -OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:ACTA1 semapv:UnspecifiedMatching -OMIM:102610 ACTA1 skos:exactMatch ncbigene:58 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch UMLS:C1412137 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch UMLS:C2673186 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch UMLS:C3279690 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:130 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:ACTA2 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch ncbigene:59 semapv:UnspecifiedMatching -OMIM:102630 ACTB skos:exactMatch hgnc.symbol:132 semapv:UnspecifiedMatching -OMIM:102630 ACTB skos:exactMatch hgnc.symbol:ACTB semapv:UnspecifiedMatching -OMIM:102630 ACTB skos:exactMatch ncbigene:60 semapv:UnspecifiedMatching -OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:11177 semapv:UnspecifiedMatching -OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:SOAT1 semapv:UnspecifiedMatching -OMIM:102642 SOAT1 skos:exactMatch ncbigene:6646 semapv:UnspecifiedMatching -OMIM:102645 APEH skos:exactMatch hgnc.symbol:586 semapv:UnspecifiedMatching -OMIM:102645 APEH skos:exactMatch hgnc.symbol:APEH semapv:UnspecifiedMatching -OMIM:102645 APEH skos:exactMatch ncbigene:327 semapv:UnspecifiedMatching -OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:6765 semapv:UnspecifiedMatching -OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:MADCAM1 semapv:UnspecifiedMatching -OMIM:102670 MADCAM1 skos:exactMatch ncbigene:8174 semapv:UnspecifiedMatching -OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:243 semapv:UnspecifiedMatching -OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:ADD1 semapv:UnspecifiedMatching -OMIM:102680 ADD1 skos:exactMatch ncbigene:118 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch UMLS:C1412231 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:244 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:ADD2 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch ncbigene:119 semapv:UnspecifiedMatching -OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:22 semapv:UnspecifiedMatching -OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:AAVS1 semapv:UnspecifiedMatching -OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 semapv:UnspecifiedMatching -OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 semapv:UnspecifiedMatching -OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C1863236 semapv:UnspecifiedMatching -OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:3009 semapv:UnspecifiedMatching -OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:DPP4 semapv:UnspecifiedMatching -OMIM:102720 DPP4 skos:exactMatch ncbigene:1803 semapv:UnspecifiedMatching -OMIM:102750 ADK skos:exactMatch hgnc.symbol:257 semapv:UnspecifiedMatching -OMIM:102750 ADK skos:exactMatch hgnc.symbol:ADK semapv:UnspecifiedMatching -OMIM:102750 ADK skos:exactMatch ncbigene:132 semapv:UnspecifiedMatching -OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:468 semapv:UnspecifiedMatching -OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:AMPD1 semapv:UnspecifiedMatching -OMIM:102770 AMPD1 skos:exactMatch ncbigene:270 semapv:UnspecifiedMatching -OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:469 semapv:UnspecifiedMatching -OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:AMPD2 semapv:UnspecifiedMatching -OMIM:102771 AMPD2 skos:exactMatch ncbigene:271 semapv:UnspecifiedMatching -OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:470 semapv:UnspecifiedMatching -OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:AMPD3 semapv:UnspecifiedMatching -OMIM:102772 AMPD3 skos:exactMatch ncbigene:272 semapv:UnspecifiedMatching -OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:262 semapv:UnspecifiedMatching -OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:ADORA1 semapv:UnspecifiedMatching -OMIM:102775 ADORA1 skos:exactMatch ncbigene:134 semapv:UnspecifiedMatching -OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:263 semapv:UnspecifiedMatching -OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:ADORA2A semapv:UnspecifiedMatching -OMIM:102776 ADORA2A skos:exactMatch ncbigene:135 semapv:UnspecifiedMatching -OMIM:102900 adenosine triphosphate, elevated, of erythrocytes skos:exactMatch UMLS:C1863224 semapv:UnspecifiedMatching -OMIM:102910 ATP5F1B skos:exactMatch UMLS:C1412653 semapv:UnspecifiedMatching -OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:830 semapv:UnspecifiedMatching -OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:ATP5F1B semapv:UnspecifiedMatching -OMIM:102910 ATP5F1B skos:exactMatch ncbigene:506 semapv:UnspecifiedMatching -OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:241 semapv:UnspecifiedMatching -OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:ADCYAP1 semapv:UnspecifiedMatching -OMIM:102980 ADCYAP1 skos:exactMatch ncbigene:116 semapv:UnspecifiedMatching -OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:242 semapv:UnspecifiedMatching -OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:ADCYAP1R1 semapv:UnspecifiedMatching -OMIM:102981 ADCYAP1R1 skos:exactMatch ncbigene:117 semapv:UnspecifiedMatching -OMIM:103000 AK1 skos:exactMatch hgnc.symbol:361 semapv:UnspecifiedMatching -OMIM:103000 AK1 skos:exactMatch hgnc.symbol:AK1 semapv:UnspecifiedMatching -OMIM:103000 AK1 skos:exactMatch ncbigene:203 semapv:UnspecifiedMatching -OMIM:103020 AK2 skos:exactMatch hgnc.symbol:362 semapv:UnspecifiedMatching -OMIM:103020 AK2 skos:exactMatch hgnc.symbol:AK2 semapv:UnspecifiedMatching -OMIM:103020 AK2 skos:exactMatch ncbigene:204 semapv:UnspecifiedMatching -OMIM:103030 AK4 skos:exactMatch hgnc.symbol:363 semapv:UnspecifiedMatching -OMIM:103030 AK4 skos:exactMatch hgnc.symbol:AK4 semapv:UnspecifiedMatching -OMIM:103030 AK4 skos:exactMatch ncbigene:205 semapv:UnspecifiedMatching -OMIM:103060 ADSS skos:exactMatch hgnc.symbol:292 semapv:UnspecifiedMatching -OMIM:103060 ADSS skos:exactMatch hgnc.symbol:ADSS2 semapv:UnspecifiedMatching -OMIM:103060 ADSS skos:exactMatch ncbigene:159 semapv:UnspecifiedMatching -OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:239 semapv:UnspecifiedMatching -OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:ADCY8 semapv:UnspecifiedMatching -OMIM:103070 ADCY8 skos:exactMatch ncbigene:114 semapv:UnspecifiedMatching -OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:233 semapv:UnspecifiedMatching -OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:ADCY2 semapv:UnspecifiedMatching -OMIM:103071 ADCY2 skos:exactMatch ncbigene:108 semapv:UnspecifiedMatching -OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:232 semapv:UnspecifiedMatching -OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:ADCY1 semapv:UnspecifiedMatching -OMIM:103072 ADCY1 skos:exactMatch ncbigene:107 semapv:UnspecifiedMatching -OMIM:103100 adie pupil skos:exactMatch Orphanet:454718 semapv:UnspecifiedMatching -OMIM:103100 adie pupil skos:exactMatch UMLS:C0001519 semapv:UnspecifiedMatching -OMIM:103100 adie pupil skos:exactMatch UMLS:C0040416 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch UMLS:C1412504 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch UMLS:C4748602 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:652 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:ARF1 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch ncbigene:375 semapv:UnspecifiedMatching -OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:658 semapv:UnspecifiedMatching -OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:ARF5 semapv:UnspecifiedMatching -OMIM:103188 ARF5 skos:exactMatch ncbigene:381 semapv:UnspecifiedMatching -OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:654 semapv:UnspecifiedMatching -OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:ARF3 semapv:UnspecifiedMatching -OMIM:103190 ARF3 skos:exactMatch ncbigene:377 semapv:UnspecifiedMatching -OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:248 semapv:UnspecifiedMatching -OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:PLIN2 semapv:UnspecifiedMatching -OMIM:103195 PLIN2 skos:exactMatch ncbigene:123 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1335833 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C3809443 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:10990 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:SLC25A4 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch ncbigene:291 semapv:UnspecifiedMatching -OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:3638 semapv:UnspecifiedMatching -OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:FDX1 semapv:UnspecifiedMatching -OMIM:103260 FDX1 skos:exactMatch ncbigene:2230 semapv:UnspecifiedMatching -OMIM:103270 FDXR skos:exactMatch hgnc.symbol:3642 semapv:UnspecifiedMatching -OMIM:103270 FDXR skos:exactMatch hgnc.symbol:FDXR semapv:UnspecifiedMatching -OMIM:103270 FDXR skos:exactMatch ncbigene:2232 semapv:UnspecifiedMatching -OMIM:103275 ADM skos:exactMatch hgnc.symbol:259 semapv:UnspecifiedMatching -OMIM:103275 ADM skos:exactMatch hgnc.symbol:ADM semapv:UnspecifiedMatching -OMIM:103275 ADM skos:exactMatch ncbigene:133 semapv:UnspecifiedMatching -OMIM:103280 H19 skos:exactMatch hgnc.symbol:4713 semapv:UnspecifiedMatching -OMIM:103280 H19 skos:exactMatch hgnc.symbol:H19 semapv:UnspecifiedMatching -OMIM:103280 H19 skos:exactMatch ncbigene:283120 semapv:UnspecifiedMatching -OMIM:103285 adult syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching -OMIM:103285 adult syndrome skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch UMLS:C1412285 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch UMLS:C3808739 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch hgnc.symbol:329 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch hgnc.symbol:AGRN semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch ncbigene:375790 semapv:UnspecifiedMatching -OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:347 semapv:UnspecifiedMatching -OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:AHNAK semapv:UnspecifiedMatching -OMIM:103390 AHNAK skos:exactMatch ncbigene:79026 semapv:UnspecifiedMatching -OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch Orphanet:42665 semapv:UnspecifiedMatching -OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching -OMIM:103600 ALB skos:exactMatch hgnc.symbol:399 semapv:UnspecifiedMatching -OMIM:103600 ALB skos:exactMatch hgnc.symbol:ALB semapv:UnspecifiedMatching -OMIM:103600 ALB skos:exactMatch ncbigene:213 semapv:UnspecifiedMatching -OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:249 semapv:UnspecifiedMatching -OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:ADH1A semapv:UnspecifiedMatching -OMIM:103700 ADH1A skos:exactMatch ncbigene:124 semapv:UnspecifiedMatching -OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:253 semapv:UnspecifiedMatching -OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:ADH5 semapv:UnspecifiedMatching -OMIM:103710 ADH5 skos:exactMatch ncbigene:128 semapv:UnspecifiedMatching -OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:250 semapv:UnspecifiedMatching -OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:ADH1B semapv:UnspecifiedMatching -OMIM:103720 ADH1B skos:exactMatch ncbigene:125 semapv:UnspecifiedMatching -OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:251 semapv:UnspecifiedMatching -OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:ADH1C semapv:UnspecifiedMatching -OMIM:103730 ADH1C skos:exactMatch ncbigene:126 semapv:UnspecifiedMatching -OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:255 semapv:UnspecifiedMatching -OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:ADH6 semapv:UnspecifiedMatching -OMIM:103735 ADH6 skos:exactMatch ncbigene:130 semapv:UnspecifiedMatching -OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:252 semapv:UnspecifiedMatching -OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:ADH4 semapv:UnspecifiedMatching -OMIM:103740 ADH4 skos:exactMatch ncbigene:127 semapv:UnspecifiedMatching -OMIM:103780 alcohol dependence skos:exactMatch UMLS:C0001973 semapv:UnspecifiedMatching -OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:380 semapv:UnspecifiedMatching -OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:AKR1A1 semapv:UnspecifiedMatching -OMIM:103830 AKR1A1 skos:exactMatch ncbigene:10327 semapv:UnspecifiedMatching -OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:414 semapv:UnspecifiedMatching -OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:ALDOA semapv:UnspecifiedMatching -OMIM:103850 ALDOA skos:exactMatch ncbigene:226 semapv:UnspecifiedMatching -OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:418 semapv:UnspecifiedMatching -OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:ALDOC semapv:UnspecifiedMatching -OMIM:103870 ALDOC skos:exactMatch ncbigene:230 semapv:UnspecifiedMatching -OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:381 semapv:UnspecifiedMatching -OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:AKR1B1 semapv:UnspecifiedMatching -OMIM:103880 AKR1B1 skos:exactMatch ncbigene:231 semapv:UnspecifiedMatching -OMIM:103950 A2M skos:exactMatch hgnc.symbol:7 semapv:UnspecifiedMatching -OMIM:103950 A2M skos:exactMatch hgnc.symbol:A2M semapv:UnspecifiedMatching -OMIM:103950 A2M skos:exactMatch ncbigene:2 semapv:UnspecifiedMatching -OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching -OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch UMLS:C3151468 semapv:UnspecifiedMatching -OMIM:104145 AFM skos:exactMatch hgnc.symbol:316 semapv:UnspecifiedMatching -OMIM:104145 AFM skos:exactMatch hgnc.symbol:AFM semapv:UnspecifiedMatching -OMIM:104145 AFM skos:exactMatch ncbigene:173 semapv:UnspecifiedMatching -OMIM:104150 AFP skos:exactMatch hgnc.symbol:317 semapv:UnspecifiedMatching -OMIM:104150 AFP skos:exactMatch hgnc.symbol:AFP semapv:UnspecifiedMatching -OMIM:104150 AFP skos:exactMatch ncbigene:174 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch UMLS:C1412611 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:777 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:ZFHX3 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch ncbigene:463 semapv:UnspecifiedMatching -OMIM:104160 GANAB skos:exactMatch hgnc.symbol:4138 semapv:UnspecifiedMatching -OMIM:104160 GANAB skos:exactMatch hgnc.symbol:GANAB semapv:UnspecifiedMatching -OMIM:104160 GANAB skos:exactMatch ncbigene:23193 semapv:UnspecifiedMatching -OMIM:104170 NAGA skos:exactMatch hgnc.symbol:7631 semapv:UnspecifiedMatching -OMIM:104170 NAGA skos:exactMatch hgnc.symbol:NAGA semapv:UnspecifiedMatching -OMIM:104170 NAGA skos:exactMatch ncbigene:4668 semapv:UnspecifiedMatching -OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:4253 semapv:UnspecifiedMatching -OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:GGTA1 semapv:UnspecifiedMatching -OMIM:104175 GGTA1P skos:exactMatch ncbigene:2681 semapv:UnspecifiedMatching -OMIM:104180 GANC skos:exactMatch hgnc.symbol:4139 semapv:UnspecifiedMatching -OMIM:104180 GANC skos:exactMatch hgnc.symbol:GANC semapv:UnspecifiedMatching -OMIM:104180 GANC skos:exactMatch ncbigene:2595 semapv:UnspecifiedMatching -OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:281 semapv:UnspecifiedMatching -OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:ADRA2A semapv:UnspecifiedMatching -OMIM:104210 ADRA2A skos:exactMatch ncbigene:150 semapv:UnspecifiedMatching -OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:280 semapv:UnspecifiedMatching -OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:ADRA1D semapv:UnspecifiedMatching -OMIM:104219 ADRA1D skos:exactMatch ncbigene:146 semapv:UnspecifiedMatching -OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:278 semapv:UnspecifiedMatching -OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:ADRA1B semapv:UnspecifiedMatching -OMIM:104220 ADRA1B skos:exactMatch ncbigene:147 semapv:UnspecifiedMatching -OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:277 semapv:UnspecifiedMatching -OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:ADRA1A semapv:UnspecifiedMatching -OMIM:104221 ADRA1A skos:exactMatch ncbigene:148 semapv:UnspecifiedMatching -OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:6701 semapv:UnspecifiedMatching -OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:LRPAP1 semapv:UnspecifiedMatching -OMIM:104225 LRPAP1 skos:exactMatch ncbigene:4043 semapv:UnspecifiedMatching -OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:4015 semapv:UnspecifiedMatching -OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:FUT4 semapv:UnspecifiedMatching -OMIM:104230 FUT4 skos:exactMatch ncbigene:2526 semapv:UnspecifiedMatching -OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:10864 semapv:UnspecifiedMatching -OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:ST3GAL4 semapv:UnspecifiedMatching -OMIM:104240 ST3GAL4 skos:exactMatch ncbigene:6484 semapv:UnspecifiedMatching -OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:283 semapv:UnspecifiedMatching -OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:ADRA2C semapv:UnspecifiedMatching -OMIM:104250 ADRA2C skos:exactMatch ncbigene:152 semapv:UnspecifiedMatching -OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:282 semapv:UnspecifiedMatching -OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:ADRA2B semapv:UnspecifiedMatching -OMIM:104260 ADRA2B skos:exactMatch ncbigene:151 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C0002395 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1541844 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching -OMIM:104310 alzheimer disease 2 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching -OMIM:104310 alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching -OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:9508 semapv:UnspecifiedMatching -OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:PSEN1 semapv:UnspecifiedMatching -OMIM:104311 PSEN1 skos:exactMatch ncbigene:5663 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:80 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:AOC1 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch ncbigene:26 semapv:UnspecifiedMatching -OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:1620 semapv:UnspecifiedMatching -OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:CCT6A semapv:UnspecifiedMatching -OMIM:104613 CCT6A skos:exactMatch ncbigene:908 semapv:UnspecifiedMatching -OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:11025 semapv:UnspecifiedMatching -OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:SLC3A1 semapv:UnspecifiedMatching -OMIM:104614 SLC3A1 skos:exactMatch ncbigene:6519 semapv:UnspecifiedMatching -OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:11057 semapv:UnspecifiedMatching -OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:SLC7A1 semapv:UnspecifiedMatching -OMIM:104615 SLC7A1 skos:exactMatch ncbigene:6541 semapv:UnspecifiedMatching -OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:177 semapv:UnspecifiedMatching -OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:ACY1 semapv:UnspecifiedMatching -OMIM:104620 ACY1 skos:exactMatch ncbigene:95 semapv:UnspecifiedMatching -OMIM:104640 AREG skos:exactMatch hgnc.symbol:651 semapv:UnspecifiedMatching -OMIM:104640 AREG skos:exactMatch hgnc.symbol:AREG semapv:UnspecifiedMatching -OMIM:104640 AREG skos:exactMatch ncbigene:374 semapv:UnspecifiedMatching -OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:477 semapv:UnspecifiedMatching -OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:AMY2A semapv:UnspecifiedMatching -OMIM:104650 AMY2A skos:exactMatch ncbigene:279 semapv:UnspecifiedMatching -OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:478 semapv:UnspecifiedMatching -OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:AMY2B semapv:UnspecifiedMatching -OMIM:104660 AMY2B skos:exactMatch ncbigene:280 semapv:UnspecifiedMatching -OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:474 semapv:UnspecifiedMatching -OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:AMY1A semapv:UnspecifiedMatching -OMIM:104700 AMY1A skos:exactMatch ncbigene:276 semapv:UnspecifiedMatching -OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:475 semapv:UnspecifiedMatching -OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:AMY1B semapv:UnspecifiedMatching -OMIM:104701 AMY1B skos:exactMatch ncbigene:277 semapv:UnspecifiedMatching -OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:476 semapv:UnspecifiedMatching -OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:AMY1C semapv:UnspecifiedMatching -OMIM:104702 AMY1C skos:exactMatch ncbigene:278 semapv:UnspecifiedMatching -OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:10513 semapv:UnspecifiedMatching -OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:SAA1 semapv:UnspecifiedMatching -OMIM:104750 SAA1 skos:exactMatch ncbigene:6288 semapv:UnspecifiedMatching -OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:10514 semapv:UnspecifiedMatching -OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:SAA2 semapv:UnspecifiedMatching -OMIM:104751 SAA2 skos:exactMatch ncbigene:6289 semapv:UnspecifiedMatching -OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:10516 semapv:UnspecifiedMatching -OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:SAA4 semapv:UnspecifiedMatching -OMIM:104752 SAA4 skos:exactMatch ncbigene:6291 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C1364818 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C1863053 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C2751494 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C2931672 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C3549448 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C3888307 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C3888308 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C3888309 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C4015784 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C4015785 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch UMLS:C4015786 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch hgnc.symbol:620 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch hgnc.symbol:APP semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch ncbigene:351 semapv:UnspecifiedMatching -OMIM:104770 APCS skos:exactMatch hgnc.symbol:584 semapv:UnspecifiedMatching -OMIM:104770 APCS skos:exactMatch hgnc.symbol:APCS semapv:UnspecifiedMatching -OMIM:104770 APCS skos:exactMatch ncbigene:325 semapv:UnspecifiedMatching -OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:597 semapv:UnspecifiedMatching -OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:APLP1 semapv:UnspecifiedMatching -OMIM:104775 APLP1 skos:exactMatch ncbigene:333 semapv:UnspecifiedMatching -OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:598 semapv:UnspecifiedMatching -OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:APLP2 semapv:UnspecifiedMatching -OMIM:104776 APLP2 skos:exactMatch ncbigene:334 semapv:UnspecifiedMatching -OMIM:105120 amyloidosis, finnish iia skos:exactMatch Orphanet:85448 semapv:UnspecifiedMatching -OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C0936273 semapv:UnspecifiedMatching -OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C1622345 semapv:UnspecifiedMatching -OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching -OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching -OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching -OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching -OMIM:105590 ALK skos:exactMatch hgnc.symbol:427 semapv:UnspecifiedMatching -OMIM:105590 ALK skos:exactMatch hgnc.symbol:ALK semapv:UnspecifiedMatching -OMIM:105590 ALK skos:exactMatch ncbigene:238 semapv:UnspecifiedMatching -OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching -OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching -OMIM:105850 ANG skos:exactMatch hgnc.symbol:483 semapv:UnspecifiedMatching -OMIM:105850 ANG skos:exactMatch hgnc.symbol:ANG semapv:UnspecifiedMatching -OMIM:105850 ANG skos:exactMatch ncbigene:283 semapv:UnspecifiedMatching -OMIM:106150 AGT skos:exactMatch hgnc.symbol:333 semapv:UnspecifiedMatching -OMIM:106150 AGT skos:exactMatch hgnc.symbol:AGT semapv:UnspecifiedMatching -OMIM:106150 AGT skos:exactMatch ncbigene:183 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch UMLS:C0266313 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch UMLS:C1439284 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch UMLS:C3837652 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:336 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:AGTR1 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch ncbigene:185 semapv:UnspecifiedMatching -OMIM:106180 ACE skos:exactMatch hgnc.symbol:2707 semapv:UnspecifiedMatching -OMIM:106180 ACE skos:exactMatch hgnc.symbol:ACE semapv:UnspecifiedMatching -OMIM:106180 ACE skos:exactMatch ncbigene:1636 semapv:UnspecifiedMatching -OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch Orphanet:468666 semapv:UnspecifiedMatching -OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch UMLS:C1862871 semapv:UnspecifiedMatching -OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:11029 semapv:UnspecifiedMatching -OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:SLC4A3 semapv:UnspecifiedMatching -OMIM:106195 SLC4A3 skos:exactMatch ncbigene:6508 semapv:UnspecifiedMatching -OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching -OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching -OMIM:106300 spondyloarthropathy, susceptibility to, 1 skos:exactMatch UMLS:C1862852 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch UMLS:C1412403 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch UMLS:C1833154 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch UMLS:C1970119 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:493 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:ANK2 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch ncbigene:287 semapv:UnspecifiedMatching -OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:541 semapv:UnspecifiedMatching -OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:ANXA3 semapv:UnspecifiedMatching -OMIM:106490 ANXA3 skos:exactMatch ncbigene:306 semapv:UnspecifiedMatching -OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:542 semapv:UnspecifiedMatching -OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:ANXA4 semapv:UnspecifiedMatching -OMIM:106491 ANXA4 skos:exactMatch ncbigene:307 semapv:UnspecifiedMatching -OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching -OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch UMLS:C1862841 semapv:UnspecifiedMatching -OMIM:107260 antigen msk41 identified by monoclonal antibody e3 skos:exactMatch UMLS:C1862836 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch UMLS:C1413206 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch hgnc.symbol:1633 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch hgnc.symbol:CD19 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch ncbigene:930 semapv:UnspecifiedMatching -OMIM:107266 CD22 skos:exactMatch hgnc.symbol:1643 semapv:UnspecifiedMatching -OMIM:107266 CD22 skos:exactMatch hgnc.symbol:CD22 semapv:UnspecifiedMatching -OMIM:107266 CD22 skos:exactMatch ncbigene:933 semapv:UnspecifiedMatching -OMIM:107269 CD44 skos:exactMatch hgnc.symbol:1681 semapv:UnspecifiedMatching -OMIM:107269 CD44 skos:exactMatch hgnc.symbol:CD44 semapv:UnspecifiedMatching -OMIM:107269 CD44 skos:exactMatch ncbigene:960 semapv:UnspecifiedMatching -OMIM:107270 CD38 skos:exactMatch hgnc.symbol:1667 semapv:UnspecifiedMatching -OMIM:107270 CD38 skos:exactMatch hgnc.symbol:CD38 semapv:UnspecifiedMatching -OMIM:107270 CD38 skos:exactMatch ncbigene:952 semapv:UnspecifiedMatching -OMIM:107271 CD59 skos:exactMatch hgnc.symbol:1689 semapv:UnspecifiedMatching -OMIM:107271 CD59 skos:exactMatch hgnc.symbol:CD59 semapv:UnspecifiedMatching -OMIM:107271 CD59 skos:exactMatch ncbigene:966 semapv:UnspecifiedMatching -OMIM:107272 CD72 skos:exactMatch hgnc.symbol:1696 semapv:UnspecifiedMatching -OMIM:107272 CD72 skos:exactMatch hgnc.symbol:CD72 semapv:UnspecifiedMatching -OMIM:107272 CD72 skos:exactMatch ncbigene:971 semapv:UnspecifiedMatching -OMIM:107273 CD69 skos:exactMatch hgnc.symbol:1694 semapv:UnspecifiedMatching -OMIM:107273 CD69 skos:exactMatch hgnc.symbol:CD69 semapv:UnspecifiedMatching -OMIM:107273 CD69 skos:exactMatch ncbigene:969 semapv:UnspecifiedMatching -OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:16 semapv:UnspecifiedMatching -OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:SERPINA3 semapv:UnspecifiedMatching -OMIM:107280 SERPINA3 skos:exactMatch ncbigene:12 semapv:UnspecifiedMatching -OMIM:107285 SLPI skos:exactMatch hgnc.symbol:11092 semapv:UnspecifiedMatching -OMIM:107285 SLPI skos:exactMatch hgnc.symbol:SLPI semapv:UnspecifiedMatching -OMIM:107285 SLPI skos:exactMatch ncbigene:6590 semapv:UnspecifiedMatching -OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:775 semapv:UnspecifiedMatching -OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:SERPINC1 semapv:UnspecifiedMatching -OMIM:107300 SERPINC1 skos:exactMatch ncbigene:462 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch UMLS:C1420232 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:11071 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:SLC9A1 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch ncbigene:6548 semapv:UnspecifiedMatching -OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:877 semapv:UnspecifiedMatching -OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:ALDH7A1 semapv:UnspecifiedMatching -OMIM:107323 ALDH7A1 skos:exactMatch ncbigene:501 semapv:UnspecifiedMatching -OMIM:107325 POLR1G skos:exactMatch hgnc.symbol:24219 semapv:UnspecifiedMatching -OMIM:107325 POLR1G skos:exactMatch hgnc.symbol:POLR1G semapv:UnspecifiedMatching -OMIM:107325 POLR1G skos:exactMatch ncbigene:10849 semapv:UnspecifiedMatching -OMIM:107400 SERPINA1 skos:exactMatch hgnc.symbol:8941 semapv:UnspecifiedMatching -OMIM:107400 SERPINA1 skos:exactMatch hgnc.symbol:SERPINA1 semapv:UnspecifiedMatching -OMIM:107400 SERPINA1 skos:exactMatch ncbigene:5265 semapv:UnspecifiedMatching -OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc.symbol:8985 semapv:UnspecifiedMatching -OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc.symbol:SERPINA2 semapv:UnspecifiedMatching -OMIM:107450 IFNAR1 skos:exactMatch hgnc.symbol:5432 semapv:UnspecifiedMatching -OMIM:107450 IFNAR1 skos:exactMatch hgnc.symbol:IFNAR1 semapv:UnspecifiedMatching -OMIM:107450 IFNAR1 skos:exactMatch ncbigene:3454 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1334083 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:5439 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:IFNGR1 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch ncbigene:3459 semapv:UnspecifiedMatching -OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:11742 semapv:UnspecifiedMatching -OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:TFAP2A semapv:UnspecifiedMatching -OMIM:107580 TFAP2A skos:exactMatch ncbigene:7020 semapv:UnspecifiedMatching -OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:601 semapv:UnspecifiedMatching -OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:APOA2 semapv:UnspecifiedMatching -OMIM:107670 APOA2 skos:exactMatch ncbigene:336 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C0268389 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C0342608 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C0342898 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C1412468 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015830 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015831 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015832 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015833 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015834 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015835 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015836 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015837 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015838 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015842 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4015843 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017418 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017419 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017420 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C4017713 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C5231502 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch UMLS:C5231503 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:600 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:APOA1 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch ncbigene:335 semapv:UnspecifiedMatching -OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:602 semapv:UnspecifiedMatching -OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:APOA4 semapv:UnspecifiedMatching -OMIM:107690 APOA4 skos:exactMatch ncbigene:337 semapv:UnspecifiedMatching -OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:607 semapv:UnspecifiedMatching -OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:APOC1 semapv:UnspecifiedMatching -OMIM:107710 APOC1 skos:exactMatch ncbigene:341 semapv:UnspecifiedMatching -OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:610 semapv:UnspecifiedMatching -OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:APOC3 semapv:UnspecifiedMatching -OMIM:107720 APOC3 skos:exactMatch ncbigene:345 semapv:UnspecifiedMatching -OMIM:107730 APOB skos:exactMatch hgnc.symbol:603 semapv:UnspecifiedMatching -OMIM:107730 APOB skos:exactMatch hgnc.symbol:APOB semapv:UnspecifiedMatching -OMIM:107730 APOB skos:exactMatch ncbigene:338 semapv:UnspecifiedMatching -OMIM:107740 APOD skos:exactMatch hgnc.symbol:612 semapv:UnspecifiedMatching -OMIM:107740 APOD skos:exactMatch hgnc.symbol:APOD semapv:UnspecifiedMatching -OMIM:107740 APOD skos:exactMatch ncbigene:347 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C0036489 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C1412481 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C1862591 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C2673196 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C3887714 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015860 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015861 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015862 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015867 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015869 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015870 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015871 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015872 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015873 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015877 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015878 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015879 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015880 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4015881 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4479657 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4479658 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4479659 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4479660 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C4540528 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231504 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231505 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231506 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231507 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231508 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231509 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231510 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231555 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231556 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch UMLS:C5231557 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch hgnc.symbol:613 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch hgnc.symbol:APOE semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch ncbigene:348 semapv:UnspecifiedMatching -OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:587 semapv:UnspecifiedMatching -OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:APEX1 semapv:UnspecifiedMatching -OMIM:107748 APEX1 skos:exactMatch ncbigene:328 semapv:UnspecifiedMatching -OMIM:107750 arbitrary restriction polymorphism 1 skos:exactMatch UMLS:C1862555 semapv:UnspecifiedMatching -OMIM:107760 APOF skos:exactMatch hgnc.symbol:615 semapv:UnspecifiedMatching -OMIM:107760 APOF skos:exactMatch hgnc.symbol:APOF semapv:UnspecifiedMatching -OMIM:107760 APOF skos:exactMatch ncbigene:319 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch UMLS:C0263428 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch UMLS:C1416912 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:6692 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:LRP1 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch ncbigene:4035 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch UMLS:C1417834 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:7976 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:NR2F2 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch ncbigene:7026 semapv:UnspecifiedMatching -OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:633 semapv:UnspecifiedMatching -OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:AQP1 semapv:UnspecifiedMatching -OMIM:107776 AQP1 skos:exactMatch ncbigene:358 semapv:UnspecifiedMatching -OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:634 semapv:UnspecifiedMatching -OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:AQP2 semapv:UnspecifiedMatching -OMIM:107777 AQP2 skos:exactMatch ncbigene:359 semapv:UnspecifiedMatching -OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:9870 semapv:UnspecifiedMatching -OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:RARS1 semapv:UnspecifiedMatching -OMIM:107820 RARS1 skos:exactMatch ncbigene:5917 semapv:UnspecifiedMatching -OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:664 semapv:UnspecifiedMatching -OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:ARG2 semapv:UnspecifiedMatching -OMIM:107830 ARG2 skos:exactMatch ncbigene:384 semapv:UnspecifiedMatching -OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:2594 semapv:UnspecifiedMatching -OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:CYP19A1 semapv:UnspecifiedMatching -OMIM:107910 CYP19A1 skos:exactMatch ncbigene:1588 semapv:UnspecifiedMatching -OMIM:107930 DDC skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching -OMIM:107930 DDC skos:exactMatch UMLS:C1413943 semapv:UnspecifiedMatching -OMIM:107930 DDC skos:exactMatch hgnc.symbol:2719 semapv:UnspecifiedMatching -OMIM:107930 DDC skos:exactMatch hgnc.symbol:DDC semapv:UnspecifiedMatching -OMIM:107930 DDC skos:exactMatch ncbigene:1644 semapv:UnspecifiedMatching -OMIM:107940 ARRB1 skos:exactMatch UMLS:C1332117 semapv:UnspecifiedMatching -OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:711 semapv:UnspecifiedMatching -OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:ARRB1 semapv:UnspecifiedMatching -OMIM:107940 ARRB1 skos:exactMatch ncbigene:408 semapv:UnspecifiedMatching -OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:712 semapv:UnspecifiedMatching -OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:ARRB2 semapv:UnspecifiedMatching -OMIM:107941 ARRB2 skos:exactMatch ncbigene:409 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293888 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293899 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:3403 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch UMLS:C1862511 semapv:UnspecifiedMatching -OMIM:108010 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 semapv:UnspecifiedMatching -OMIM:108010 arteriovenous malformations of the brain skos:exactMatch UMLS:C0917804 semapv:UnspecifiedMatching -OMIM:108100 arthritis, sacroiliac skos:exactMatch UMLS:C0748473 semapv:UnspecifiedMatching -OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching -OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C0220662 semapv:UnspecifiedMatching -OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C5193002 semapv:UnspecifiedMatching -OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:2595 semapv:UnspecifiedMatching -OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:CYP1A1 semapv:UnspecifiedMatching -OMIM:108330 CYP1A1 skos:exactMatch ncbigene:1543 semapv:UnspecifiedMatching -OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:7645 semapv:UnspecifiedMatching -OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:NAT1 semapv:UnspecifiedMatching -OMIM:108345 NAT1 skos:exactMatch ncbigene:9 semapv:UnspecifiedMatching -OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:4566 semapv:UnspecifiedMatching -OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:GRB2 semapv:UnspecifiedMatching -OMIM:108355 GRB2 skos:exactMatch ncbigene:2885 semapv:UnspecifiedMatching -OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:742 semapv:UnspecifiedMatching -OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:ASGR1 semapv:UnspecifiedMatching -OMIM:108360 ASGR1 skos:exactMatch ncbigene:432 semapv:UnspecifiedMatching -OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:743 semapv:UnspecifiedMatching -OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:ASGR2 semapv:UnspecifiedMatching -OMIM:108361 ASGR2 skos:exactMatch ncbigene:433 semapv:UnspecifiedMatching -OMIM:108370 ASNS skos:exactMatch UMLS:C1412588 semapv:UnspecifiedMatching -OMIM:108370 ASNS skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching -OMIM:108370 ASNS skos:exactMatch hgnc.symbol:753 semapv:UnspecifiedMatching -OMIM:108370 ASNS skos:exactMatch hgnc.symbol:ASNS semapv:UnspecifiedMatching -OMIM:108370 ASNS skos:exactMatch ncbigene:440 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch UMLS:C1384524 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:7643 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:NARS1 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch ncbigene:4677 semapv:UnspecifiedMatching -OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching -OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch UMLS:C0265283 semapv:UnspecifiedMatching -OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching -OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching -OMIM:108728 ACLY skos:exactMatch UMLS:C1412125 semapv:UnspecifiedMatching -OMIM:108728 ACLY skos:exactMatch hgnc.symbol:115 semapv:UnspecifiedMatching -OMIM:108728 ACLY skos:exactMatch hgnc.symbol:ACLY semapv:UnspecifiedMatching -OMIM:108728 ACLY skos:exactMatch ncbigene:47 semapv:UnspecifiedMatching -OMIM:108729 ATP5F1C skos:exactMatch UMLS:C1412656 semapv:UnspecifiedMatching -OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:833 semapv:UnspecifiedMatching -OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:ATP5F1C semapv:UnspecifiedMatching -OMIM:108729 ATP5F1C skos:exactMatch ncbigene:509 semapv:UnspecifiedMatching -OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:811 semapv:UnspecifiedMatching -OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:ATP2A1 semapv:UnspecifiedMatching -OMIM:108730 ATP2A1 skos:exactMatch ncbigene:487 semapv:UnspecifiedMatching -OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:814 semapv:UnspecifiedMatching -OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:ATP2B1 semapv:UnspecifiedMatching -OMIM:108731 ATP2B1 skos:exactMatch ncbigene:490 semapv:UnspecifiedMatching -OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:817 semapv:UnspecifiedMatching -OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:ATP2B4 semapv:UnspecifiedMatching -OMIM:108732 ATP2B4 skos:exactMatch ncbigene:493 semapv:UnspecifiedMatching -OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:815 semapv:UnspecifiedMatching -OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:ATP2B2 semapv:UnspecifiedMatching -OMIM:108733 ATP2B2 skos:exactMatch ncbigene:491 semapv:UnspecifiedMatching -OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:812 semapv:UnspecifiedMatching -OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:ATP2A2 semapv:UnspecifiedMatching -OMIM:108740 ATP2A2 skos:exactMatch ncbigene:488 semapv:UnspecifiedMatching -OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:855 semapv:UnspecifiedMatching -OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:ATP6V0C semapv:UnspecifiedMatching -OMIM:108745 ATP6V0C skos:exactMatch ncbigene:527 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C1412677 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:857 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:ATP6V1E1 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch ncbigene:529 semapv:UnspecifiedMatching -OMIM:108780 NPPA skos:exactMatch hgnc.symbol:7939 semapv:UnspecifiedMatching -OMIM:108780 NPPA skos:exactMatch hgnc.symbol:NPPA semapv:UnspecifiedMatching -OMIM:108780 NPPA skos:exactMatch ncbigene:4878 semapv:UnspecifiedMatching -OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:7943 semapv:UnspecifiedMatching -OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:NPR1 semapv:UnspecifiedMatching -OMIM:108960 NPR1 skos:exactMatch ncbigene:4881 semapv:UnspecifiedMatching -OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:7944 semapv:UnspecifiedMatching -OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:NPR2 semapv:UnspecifiedMatching -OMIM:108961 NPR2 skos:exactMatch ncbigene:4882 semapv:UnspecifiedMatching -OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:7945 semapv:UnspecifiedMatching -OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:NPR3 semapv:UnspecifiedMatching -OMIM:108962 NPR3 skos:exactMatch ncbigene:4883 semapv:UnspecifiedMatching -OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching -OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching -OMIM:108990 attached cell antigen 28.3.7 skos:exactMatch UMLS:C1417160 semapv:UnspecifiedMatching -OMIM:109090 SSB skos:exactMatch hgnc.symbol:11316 semapv:UnspecifiedMatching -OMIM:109090 SSB skos:exactMatch hgnc.symbol:SSB semapv:UnspecifiedMatching -OMIM:109090 SSB skos:exactMatch ncbigene:6741 semapv:UnspecifiedMatching -OMIM:109091 CALR skos:exactMatch hgnc.symbol:1455 semapv:UnspecifiedMatching -OMIM:109091 CALR skos:exactMatch hgnc.symbol:CALR semapv:UnspecifiedMatching -OMIM:109091 CALR skos:exactMatch ncbigene:811 semapv:UnspecifiedMatching -OMIM:109092 TRIM21 skos:exactMatch UMLS:C1540056 semapv:UnspecifiedMatching -OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:11312 semapv:UnspecifiedMatching -OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:TRIM21 semapv:UnspecifiedMatching -OMIM:109092 TRIM21 skos:exactMatch ncbigene:6737 semapv:UnspecifiedMatching -OMIM:109135 AXL skos:exactMatch UMLS:C0812237 semapv:UnspecifiedMatching -OMIM:109135 AXL skos:exactMatch hgnc.symbol:905 semapv:UnspecifiedMatching -OMIM:109135 AXL skos:exactMatch hgnc.symbol:AXL semapv:UnspecifiedMatching -OMIM:109135 AXL skos:exactMatch ncbigene:558 semapv:UnspecifiedMatching -OMIM:109170 LST1 skos:exactMatch hgnc.symbol:14189 semapv:UnspecifiedMatching -OMIM:109170 LST1 skos:exactMatch hgnc.symbol:LST1 semapv:UnspecifiedMatching -OMIM:109170 LST1 skos:exactMatch ncbigene:7940 semapv:UnspecifiedMatching -OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:10943 semapv:UnspecifiedMatching -OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:SLC1A5 semapv:UnspecifiedMatching -OMIM:109190 SLC1A5 skos:exactMatch ncbigene:6510 semapv:UnspecifiedMatching -OMIM:109195 BPI skos:exactMatch hgnc.symbol:1095 semapv:UnspecifiedMatching -OMIM:109195 BPI skos:exactMatch hgnc.symbol:BPI semapv:UnspecifiedMatching -OMIM:109195 BPI skos:exactMatch ncbigene:671 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1420193 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1832168 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862190 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862191 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862322 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969039 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969379 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C3892933 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015889 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015890 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015891 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015892 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015893 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015894 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015895 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015896 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015897 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015899 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015900 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015901 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015902 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015903 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015904 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225456 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225644 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225645 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225646 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:11027 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:SLC4A1 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch ncbigene:6521 semapv:UnspecifiedMatching -OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:11028 semapv:UnspecifiedMatching -OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:SLC4A2 semapv:UnspecifiedMatching -OMIM:109280 SLC4A2 skos:exactMatch ncbigene:6522 semapv:UnspecifiedMatching -OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching -OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching -OMIM:109480 BSG skos:exactMatch hgnc.symbol:1116 semapv:UnspecifiedMatching -OMIM:109480 BSG skos:exactMatch hgnc.symbol:BSG semapv:UnspecifiedMatching -OMIM:109480 BSG skos:exactMatch ncbigene:682 semapv:UnspecifiedMatching -OMIM:109530 CD48 skos:exactMatch hgnc.symbol:1683 semapv:UnspecifiedMatching -OMIM:109530 CD48 skos:exactMatch hgnc.symbol:CD48 semapv:UnspecifiedMatching -OMIM:109530 CD48 skos:exactMatch ncbigene:962 semapv:UnspecifiedMatching -OMIM:109535 CD40 skos:exactMatch hgnc.symbol:11919 semapv:UnspecifiedMatching -OMIM:109535 CD40 skos:exactMatch hgnc.symbol:CD40 semapv:UnspecifiedMatching -OMIM:109535 CD40 skos:exactMatch ncbigene:958 semapv:UnspecifiedMatching -OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:11913 semapv:UnspecifiedMatching -OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:TNFRSF17 semapv:UnspecifiedMatching -OMIM:109545 TNFRSF17 skos:exactMatch ncbigene:608 semapv:UnspecifiedMatching -OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:998 semapv:UnspecifiedMatching -OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:BCL3 semapv:UnspecifiedMatching -OMIM:109560 BCL3 skos:exactMatch ncbigene:602 semapv:UnspecifiedMatching -OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:1001 semapv:UnspecifiedMatching -OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:BCL6 semapv:UnspecifiedMatching -OMIM:109565 BCL6 skos:exactMatch ncbigene:604 semapv:UnspecifiedMatching -OMIM:109580 BTG1 skos:exactMatch UMLS:C1439347 semapv:UnspecifiedMatching -OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:1130 semapv:UnspecifiedMatching -OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:BTG1 semapv:UnspecifiedMatching -OMIM:109580 BTG1 skos:exactMatch ncbigene:694 semapv:UnspecifiedMatching -OMIM:109610 TSPO skos:exactMatch hgnc.symbol:1158 semapv:UnspecifiedMatching -OMIM:109610 TSPO skos:exactMatch hgnc.symbol:TSPO semapv:UnspecifiedMatching -OMIM:109610 TSPO skos:exactMatch ncbigene:706 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch UMLS:C1439273 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch UMLS:C1821417 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch UMLS:C2676080 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:285 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:ADRB1 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch ncbigene:153 semapv:UnspecifiedMatching -OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:289 semapv:UnspecifiedMatching -OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:GRK2 semapv:UnspecifiedMatching -OMIM:109635 GRK2 skos:exactMatch ncbigene:156 semapv:UnspecifiedMatching -OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:290 semapv:UnspecifiedMatching -OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:GRK3 semapv:UnspecifiedMatching -OMIM:109636 ADRBK2 skos:exactMatch ncbigene:157 semapv:UnspecifiedMatching -OMIM:109640 beta-glycerol phosphatase skos:exactMatch UMLS:C1415192 semapv:UnspecifiedMatching -OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:10860 semapv:UnspecifiedMatching -OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:ST6GAL1 semapv:UnspecifiedMatching -OMIM:109675 ST6GAL1 skos:exactMatch ncbigene:6480 semapv:UnspecifiedMatching -OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:5210 semapv:UnspecifiedMatching -OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:HSD17B1 semapv:UnspecifiedMatching -OMIM:109684 HSD17B1 skos:exactMatch ncbigene:3292 semapv:UnspecifiedMatching -OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:5211 semapv:UnspecifiedMatching -OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:HSD17B2 semapv:UnspecifiedMatching -OMIM:109685 HSD17B2 skos:exactMatch ncbigene:3294 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch UMLS:C1367657 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch UMLS:C1862282 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch UMLS:C3835585 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch UMLS:C5193154 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:286 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:ADRB2 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch ncbigene:154 semapv:UnspecifiedMatching -OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:288 semapv:UnspecifiedMatching -OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:ADRB3 semapv:UnspecifiedMatching -OMIM:109691 ADRB3 skos:exactMatch ncbigene:155 semapv:UnspecifiedMatching -OMIM:109700 B2M skos:exactMatch hgnc.symbol:914 semapv:UnspecifiedMatching -OMIM:109700 B2M skos:exactMatch hgnc.symbol:B2M semapv:UnspecifiedMatching -OMIM:109700 B2M skos:exactMatch ncbigene:567 semapv:UnspecifiedMatching -OMIM:109710 B2MR skos:exactMatch UMLS:C1412710 semapv:UnspecifiedMatching -OMIM:109710 B2MR skos:exactMatch hgnc.symbol:915 semapv:UnspecifiedMatching -OMIM:109710 B2MR skos:exactMatch hgnc.symbol:B2MR semapv:UnspecifiedMatching -OMIM:109710 B2MR skos:exactMatch ncbigene:568 semapv:UnspecifiedMatching -OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:5217 semapv:UnspecifiedMatching -OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:HSD3B1 semapv:UnspecifiedMatching -OMIM:109715 HSD3B1 skos:exactMatch ncbigene:3283 semapv:UnspecifiedMatching -OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:1062 semapv:UnspecifiedMatching -OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:BLVRA semapv:UnspecifiedMatching -OMIM:109750 BLVRA skos:exactMatch ncbigene:644 semapv:UnspecifiedMatching -OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:5286 semapv:UnspecifiedMatching -OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:HTR1A semapv:UnspecifiedMatching -OMIM:109760 HTR1A skos:exactMatch ncbigene:3350 semapv:UnspecifiedMatching -OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:1814 semapv:UnspecifiedMatching -OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:CEACAM1 semapv:UnspecifiedMatching -OMIM:109770 CEACAM1 skos:exactMatch ncbigene:634 semapv:UnspecifiedMatching -OMIM:109780 bkm DNA skos:exactMatch UMLS:C1862276 semapv:UnspecifiedMatching -OMIM:109800 bladder cancer skos:exactMatch UMLS:C0005684 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch UMLS:C0220663 semapv:UnspecifiedMatching -OMIM:110300 ABO skos:exactMatch hgnc.symbol:79 semapv:UnspecifiedMatching -OMIM:110300 ABO skos:exactMatch hgnc.symbol:ABO semapv:UnspecifiedMatching -OMIM:110300 ABO skos:exactMatch ncbigene:28 semapv:UnspecifiedMatching -OMIM:110600 ART4 skos:exactMatch hgnc.symbol:726 semapv:UnspecifiedMatching -OMIM:110600 ART4 skos:exactMatch hgnc.symbol:ART4 semapv:UnspecifiedMatching -OMIM:110600 ART4 skos:exactMatch ncbigene:420 semapv:UnspecifiedMatching -OMIM:110750 GYPC skos:exactMatch hgnc.symbol:4704 semapv:UnspecifiedMatching -OMIM:110750 GYPC skos:exactMatch hgnc.symbol:GYPC semapv:UnspecifiedMatching -OMIM:110750 GYPC skos:exactMatch ncbigene:2995 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch UMLS:C1414864 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch UMLS:C4015916 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:4014 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:FUT3 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch ncbigene:2525 semapv:UnspecifiedMatching -OMIM:111300 blood group, mn skos:exactMatch UMLS:C0026327 semapv:UnspecifiedMatching -OMIM:111400 blood group, p1pk system skos:exactMatch UMLS:C3549485 semapv:UnspecifiedMatching -OMIM:111680 RHD skos:exactMatch hgnc.symbol:10009 semapv:UnspecifiedMatching -OMIM:111680 RHD skos:exactMatch hgnc.symbol:RHD semapv:UnspecifiedMatching -OMIM:111680 RHD skos:exactMatch ncbigene:6007 semapv:UnspecifiedMatching -OMIM:111700 RHCE skos:exactMatch hgnc.symbol:10008 semapv:UnspecifiedMatching -OMIM:111700 RHCE skos:exactMatch hgnc.symbol:RHCE semapv:UnspecifiedMatching -OMIM:111700 RHCE skos:exactMatch ncbigene:6006 semapv:UnspecifiedMatching -OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:24136 semapv:UnspecifiedMatching -OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:B4GALNT2 semapv:UnspecifiedMatching -OMIM:111730 B4GALNT2 skos:exactMatch ncbigene:124872 semapv:UnspecifiedMatching -OMIM:112203 CD80 skos:exactMatch hgnc.symbol:1700 semapv:UnspecifiedMatching -OMIM:112203 CD80 skos:exactMatch hgnc.symbol:CD80 semapv:UnspecifiedMatching -OMIM:112203 CD80 skos:exactMatch ncbigene:941 semapv:UnspecifiedMatching -OMIM:112205 CD79A skos:exactMatch hgnc.symbol:1698 semapv:UnspecifiedMatching -OMIM:112205 CD79A skos:exactMatch hgnc.symbol:CD79A semapv:UnspecifiedMatching -OMIM:112205 CD79A skos:exactMatch ncbigene:973 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch UMLS:C1417326 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:7315 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:MS4A1 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch ncbigene:931 semapv:UnspecifiedMatching -OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch Orphanet:85182 semapv:UnspecifiedMatching -OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch UMLS:C1862177 semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch UMLS:C1412791 semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:1043 semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:BGLAP semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch ncbigene:632 semapv:UnspecifiedMatching -OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:1069 semapv:UnspecifiedMatching -OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:BMP2 semapv:UnspecifiedMatching -OMIM:112261 BMP2 skos:exactMatch ncbigene:650 semapv:UnspecifiedMatching -OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:1071 semapv:UnspecifiedMatching -OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:BMP4 semapv:UnspecifiedMatching -OMIM:112262 BMP4 skos:exactMatch ncbigene:652 semapv:UnspecifiedMatching -OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:1070 semapv:UnspecifiedMatching -OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:BMP3 semapv:UnspecifiedMatching -OMIM:112263 BMP3 skos:exactMatch ncbigene:651 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch UMLS:C1412804 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch UMLS:C3553887 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:1067 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:BMP1 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch ncbigene:649 semapv:UnspecifiedMatching -OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:1072 semapv:UnspecifiedMatching -OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:BMP5 semapv:UnspecifiedMatching -OMIM:112265 BMP5 skos:exactMatch ncbigene:653 semapv:UnspecifiedMatching -OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:1073 semapv:UnspecifiedMatching -OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:BMP6 semapv:UnspecifiedMatching -OMIM:112266 BMP6 skos:exactMatch ncbigene:654 semapv:UnspecifiedMatching -OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:1074 semapv:UnspecifiedMatching -OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:BMP7 semapv:UnspecifiedMatching -OMIM:112267 BMP7 skos:exactMatch ncbigene:655 semapv:UnspecifiedMatching -OMIM:112310 boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching -OMIM:112310 boomerang dysplasia skos:exactMatch UMLS:C0432201 semapv:UnspecifiedMatching -OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:572385 semapv:UnspecifiedMatching -OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching -OMIM:113000 brachydactyly, iia b1 skos:exactMatch UMLS:C1862112 semapv:UnspecifiedMatching -OMIM:113100 brachydactyly, iia c skos:exactMatch Orphanet:93384 semapv:UnspecifiedMatching -OMIM:113100 brachydactyly, iia c skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching -OMIM:113200 brachydactyly, iia d skos:exactMatch UMLS:C0220664 semapv:UnspecifiedMatching -OMIM:113300 brachydactyly, iia e1 skos:exactMatch Orphanet:93387 semapv:UnspecifiedMatching -OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C1862102 semapv:UnspecifiedMatching -OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C4315392 semapv:UnspecifiedMatching -OMIM:113500 brachyolmia iia 3 skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching -OMIM:113500 brachyolmia iia 3 skos:exactMatch UMLS:C0432227 semapv:UnspecifiedMatching -OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:1030 semapv:UnspecifiedMatching -OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:BDKRB2 semapv:UnspecifiedMatching -OMIM:113503 BDKRB2 skos:exactMatch ncbigene:624 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch UMLS:C1332408 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch UMLS:C4694116 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch hgnc.symbol:1033 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch hgnc.symbol:BDNF semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch ncbigene:627 semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch UMLS:C1421562 semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:12853 semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:YWHAH semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch ncbigene:7533 semapv:UnspecifiedMatching -OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:976 semapv:UnspecifiedMatching -OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:BCAT1 semapv:UnspecifiedMatching -OMIM:113520 BCAT1 skos:exactMatch ncbigene:586 semapv:UnspecifiedMatching -OMIM:113530 BCAT2 skos:exactMatch UMLS:C1412752 semapv:UnspecifiedMatching -OMIM:113530 BCAT2 skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching -OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:977 semapv:UnspecifiedMatching -OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:BCAT2 semapv:UnspecifiedMatching -OMIM:113530 BCAT2 skos:exactMatch ncbigene:587 semapv:UnspecifiedMatching -OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch Orphanet:180176 semapv:UnspecifiedMatching -OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch UMLS:C0405471 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch UMLS:C1335636 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:10303 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:RPL13 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch ncbigene:6137 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C0376571 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C2676676 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C3280442 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C3469525 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch UMLS:C4554406 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:1100 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:BRCA1 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch ncbigene:672 semapv:UnspecifiedMatching -OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:11755 semapv:UnspecifiedMatching -OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:TFF1 semapv:UnspecifiedMatching -OMIM:113710 TFF1 skos:exactMatch ncbigene:7031 semapv:UnspecifiedMatching -OMIM:113725 POU4F2 skos:exactMatch UMLS:C1418766 semapv:UnspecifiedMatching -OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:9219 semapv:UnspecifiedMatching -OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:POU4F2 semapv:UnspecifiedMatching -OMIM:113725 POU4F2 skos:exactMatch ncbigene:5458 semapv:UnspecifiedMatching -OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:12517 semapv:UnspecifiedMatching -OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:UCP1 semapv:UnspecifiedMatching -OMIM:113730 UCP1 skos:exactMatch ncbigene:7350 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch UMLS:C1539312 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch hgnc.symbol:1090 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch hgnc.symbol:DST semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch ncbigene:667 semapv:UnspecifiedMatching -OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:2194 semapv:UnspecifiedMatching -OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:COL17A1 semapv:UnspecifiedMatching -OMIM:113811 COL17A1 skos:exactMatch ncbigene:1308 semapv:UnspecifiedMatching -OMIM:113955 bungarotoxin, alpha, receptor for skos:exactMatch UMLS:C3888101 semapv:UnspecifiedMatching -OMIM:113970 burkitt lymphoma skos:exactMatch Orphanet:543 semapv:UnspecifiedMatching -OMIM:113970 burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching -OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:1338 semapv:UnspecifiedMatching -OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:C5AR1 semapv:UnspecifiedMatching -OMIM:113995 C5AR1 skos:exactMatch ncbigene:728 semapv:UnspecifiedMatching -OMIM:114000 caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching -OMIM:114000 caffey disease skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching -OMIM:114010 CAD skos:exactMatch UMLS:C1413078 semapv:UnspecifiedMatching -OMIM:114010 CAD skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching -OMIM:114010 CAD skos:exactMatch hgnc.symbol:1424 semapv:UnspecifiedMatching -OMIM:114010 CAD skos:exactMatch hgnc.symbol:CAD semapv:UnspecifiedMatching -OMIM:114010 CAD skos:exactMatch ncbigene:790 semapv:UnspecifiedMatching -OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:1754 semapv:UnspecifiedMatching -OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:CDH15 semapv:UnspecifiedMatching -OMIM:114019 CDH15 skos:exactMatch ncbigene:1013 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch UMLS:C1413277 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:1759 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:CDH2 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch ncbigene:1000 semapv:UnspecifiedMatching -OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:1762 semapv:UnspecifiedMatching -OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:CDH3 semapv:UnspecifiedMatching -OMIM:114021 CDH3 skos:exactMatch ncbigene:1001 semapv:UnspecifiedMatching -OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:2510 semapv:UnspecifiedMatching -OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:CTNNA2 semapv:UnspecifiedMatching -OMIM:114025 CTNNA2 skos:exactMatch ncbigene:1496 semapv:UnspecifiedMatching -OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:1434 semapv:UnspecifiedMatching -OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:CALB1 semapv:UnspecifiedMatching -OMIM:114050 CALB1 skos:exactMatch ncbigene:793 semapv:UnspecifiedMatching -OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:1435 semapv:UnspecifiedMatching -OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:CALB2 semapv:UnspecifiedMatching -OMIM:114051 CALB2 skos:exactMatch ncbigene:794 semapv:UnspecifiedMatching -OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:544 semapv:UnspecifiedMatching -OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:ANXA6 semapv:UnspecifiedMatching -OMIM:114070 ANXA6 skos:exactMatch ncbigene:309 semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch UMLS:C1413099 semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch UMLS:C4540481 semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch UMLS:C4748167 semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:1460 semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:CAMK2A semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch ncbigene:815 semapv:UnspecifiedMatching -OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:1464 semapv:UnspecifiedMatching -OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:CAMK4 semapv:UnspecifiedMatching -OMIM:114080 CAMK4 skos:exactMatch ncbigene:814 semapv:UnspecifiedMatching -OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:10487 semapv:UnspecifiedMatching -OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:S100A10 semapv:UnspecifiedMatching -OMIM:114085 S100A10 skos:exactMatch ncbigene:6281 semapv:UnspecifiedMatching -OMIM:114090 CAST skos:exactMatch hgnc.symbol:1515 semapv:UnspecifiedMatching -OMIM:114090 CAST skos:exactMatch hgnc.symbol:CAST semapv:UnspecifiedMatching -OMIM:114090 CAST skos:exactMatch ncbigene:831 semapv:UnspecifiedMatching -OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:9314 semapv:UnspecifiedMatching -OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:PPP3CA semapv:UnspecifiedMatching -OMIM:114105 PPP3CA skos:exactMatch ncbigene:5530 semapv:UnspecifiedMatching -OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:9315 semapv:UnspecifiedMatching -OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:PPP3CB semapv:UnspecifiedMatching -OMIM:114106 PPP3CB skos:exactMatch ncbigene:5532 semapv:UnspecifiedMatching -OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:9316 semapv:UnspecifiedMatching -OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:PPP3CC semapv:UnspecifiedMatching -OMIM:114107 PPP3CC skos:exactMatch ncbigene:5533 semapv:UnspecifiedMatching -OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:10496 semapv:UnspecifiedMatching -OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:S100A6 semapv:UnspecifiedMatching -OMIM:114110 S100A6 skos:exactMatch ncbigene:6277 semapv:UnspecifiedMatching -OMIM:114130 CALCA skos:exactMatch hgnc.symbol:1437 semapv:UnspecifiedMatching -OMIM:114130 CALCA skos:exactMatch hgnc.symbol:CALCA semapv:UnspecifiedMatching -OMIM:114130 CALCA skos:exactMatch ncbigene:796 semapv:UnspecifiedMatching -OMIM:114131 CALCR skos:exactMatch hgnc.symbol:1440 semapv:UnspecifiedMatching -OMIM:114131 CALCR skos:exactMatch hgnc.symbol:CALCR semapv:UnspecifiedMatching -OMIM:114131 CALCR skos:exactMatch ncbigene:799 semapv:UnspecifiedMatching -OMIM:114160 CALCB skos:exactMatch hgnc.symbol:1438 semapv:UnspecifiedMatching -OMIM:114160 CALCB skos:exactMatch hgnc.symbol:CALCB semapv:UnspecifiedMatching -OMIM:114160 CALCB skos:exactMatch ncbigene:797 semapv:UnspecifiedMatching -OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:1481 semapv:UnspecifiedMatching -OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:CAPNS1 semapv:UnspecifiedMatching -OMIM:114170 CAPNS1 skos:exactMatch ncbigene:826 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch UMLS:C1332659 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch UMLS:C3554047 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:1442 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:CALM1 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch ncbigene:801 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch UMLS:C1413089 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:1445 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:CALM2 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch ncbigene:805 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch UMLS:C1413093 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:1449 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:CALM3 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch ncbigene:808 semapv:UnspecifiedMatching -OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:1452 semapv:UnspecifiedMatching -OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:CALML3 semapv:UnspecifiedMatching -OMIM:114184 CALML3 skos:exactMatch ncbigene:810 semapv:UnspecifiedMatching -OMIM:114190 CALCRL skos:exactMatch UMLS:C1424497 semapv:UnspecifiedMatching -OMIM:114190 CALCRL skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching -OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:16709 semapv:UnspecifiedMatching -OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:CALCRL semapv:UnspecifiedMatching -OMIM:114190 CALCRL skos:exactMatch ncbigene:10203 semapv:UnspecifiedMatching -OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:1399 semapv:UnspecifiedMatching -OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:CACNA2D1 semapv:UnspecifiedMatching -OMIM:114204 CACNA2D1 skos:exactMatch ncbigene:781 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch UMLS:C1413057 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch UMLS:C2678478 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:1390 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:CACNA1C semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch ncbigene:775 semapv:UnspecifiedMatching -OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:1391 semapv:UnspecifiedMatching -OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:CACNA1D semapv:UnspecifiedMatching -OMIM:114206 CACNA1D skos:exactMatch ncbigene:776 semapv:UnspecifiedMatching -OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:1401 semapv:UnspecifiedMatching -OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:CACNB1 semapv:UnspecifiedMatching -OMIM:114207 CACNB1 skos:exactMatch ncbigene:782 semapv:UnspecifiedMatching -OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:1397 semapv:UnspecifiedMatching -OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:CACNA1S semapv:UnspecifiedMatching -OMIM:114208 CACNA1S skos:exactMatch ncbigene:779 semapv:UnspecifiedMatching -OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:1405 semapv:UnspecifiedMatching -OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:CACNG1 semapv:UnspecifiedMatching -OMIM:114209 CACNG1 skos:exactMatch ncbigene:786 semapv:UnspecifiedMatching -OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:10494 semapv:UnspecifiedMatching -OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:S100A4 semapv:UnspecifiedMatching -OMIM:114210 S100A4 skos:exactMatch ncbigene:6275 semapv:UnspecifiedMatching -OMIM:114212 CAPS skos:exactMatch hgnc.symbol:1487 semapv:UnspecifiedMatching -OMIM:114212 CAPS skos:exactMatch hgnc.symbol:CAPS semapv:UnspecifiedMatching -OMIM:114212 CAPS skos:exactMatch ncbigene:828 semapv:UnspecifiedMatching -OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:1441 semapv:UnspecifiedMatching -OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:CALD1 semapv:UnspecifiedMatching -OMIM:114213 CALD1 skos:exactMatch ncbigene:800 semapv:UnspecifiedMatching -OMIM:114217 CANX skos:exactMatch hgnc.symbol:1473 semapv:UnspecifiedMatching -OMIM:114217 CANX skos:exactMatch hgnc.symbol:CANX semapv:UnspecifiedMatching -OMIM:114217 CANX skos:exactMatch ncbigene:821 semapv:UnspecifiedMatching -OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:1476 semapv:UnspecifiedMatching -OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:CAPN1 semapv:UnspecifiedMatching -OMIM:114220 CAPN1 skos:exactMatch ncbigene:823 semapv:UnspecifiedMatching -OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:1479 semapv:UnspecifiedMatching -OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:CAPN2 semapv:UnspecifiedMatching -OMIM:114230 CAPN2 skos:exactMatch ncbigene:824 semapv:UnspecifiedMatching -OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:1480 semapv:UnspecifiedMatching -OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:CAPN3 semapv:UnspecifiedMatching -OMIM:114240 CAPN3 skos:exactMatch ncbigene:825 semapv:UnspecifiedMatching -OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:1512 semapv:UnspecifiedMatching -OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:CASQ1 semapv:UnspecifiedMatching -OMIM:114250 CASQ1 skos:exactMatch ncbigene:844 semapv:UnspecifiedMatching -OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:1513 semapv:UnspecifiedMatching -OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:CASQ2 semapv:UnspecifiedMatching -OMIM:114251 CASQ2 skos:exactMatch ncbigene:845 semapv:UnspecifiedMatching -OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:1804 semapv:UnspecifiedMatching -OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:CD52 semapv:UnspecifiedMatching -OMIM:114280 CDW52 skos:exactMatch ncbigene:1043 semapv:UnspecifiedMatching -OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching -OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch UMLS:C0220666 semapv:UnspecifiedMatching -OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:8064 semapv:UnspecifiedMatching -OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:NUP214 semapv:UnspecifiedMatching -OMIM:114350 NUP214 skos:exactMatch ncbigene:8021 semapv:UnspecifiedMatching -OMIM:114480 breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching -OMIM:114480 breast cancer skos:exactMatch UMLS:C0006142 semapv:UnspecifiedMatching -OMIM:114480 breast cancer skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching -OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching -OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:210159 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C2239176 semapv:UnspecifiedMatching -OMIM:114610 CNR1 skos:exactMatch UMLS:C1413554 semapv:UnspecifiedMatching -OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:2159 semapv:UnspecifiedMatching -OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:CNR1 semapv:UnspecifiedMatching -OMIM:114610 CNR1 skos:exactMatch ncbigene:1268 semapv:UnspecifiedMatching -OMIM:114750 CA3 skos:exactMatch hgnc.symbol:1374 semapv:UnspecifiedMatching -OMIM:114750 CA3 skos:exactMatch hgnc.symbol:CA3 semapv:UnspecifiedMatching -OMIM:114750 CA3 skos:exactMatch ncbigene:761 semapv:UnspecifiedMatching -OMIM:114760 CA4 skos:exactMatch hgnc.symbol:1375 semapv:UnspecifiedMatching -OMIM:114760 CA4 skos:exactMatch hgnc.symbol:CA4 semapv:UnspecifiedMatching -OMIM:114760 CA4 skos:exactMatch ncbigene:762 semapv:UnspecifiedMatching -OMIM:114761 CA5A skos:exactMatch hgnc.symbol:1377 semapv:UnspecifiedMatching -OMIM:114761 CA5A skos:exactMatch hgnc.symbol:CA5A semapv:UnspecifiedMatching -OMIM:114761 CA5A skos:exactMatch ncbigene:763 semapv:UnspecifiedMatching -OMIM:114770 CA7 skos:exactMatch hgnc.symbol:1381 semapv:UnspecifiedMatching -OMIM:114770 CA7 skos:exactMatch hgnc.symbol:CA7 semapv:UnspecifiedMatching -OMIM:114770 CA7 skos:exactMatch ncbigene:766 semapv:UnspecifiedMatching -OMIM:114780 CA6 skos:exactMatch hgnc.symbol:1380 semapv:UnspecifiedMatching -OMIM:114780 CA6 skos:exactMatch hgnc.symbol:CA6 semapv:UnspecifiedMatching -OMIM:114780 CA6 skos:exactMatch ncbigene:765 semapv:UnspecifiedMatching -OMIM:114800 CA1 skos:exactMatch hgnc.symbol:1368 semapv:UnspecifiedMatching -OMIM:114800 CA1 skos:exactMatch hgnc.symbol:CA1 semapv:UnspecifiedMatching -OMIM:114800 CA1 skos:exactMatch ncbigene:759 semapv:UnspecifiedMatching -OMIM:114815 CA8 skos:exactMatch hgnc.symbol:1382 semapv:UnspecifiedMatching -OMIM:114815 CA8 skos:exactMatch hgnc.symbol:CA8 semapv:UnspecifiedMatching -OMIM:114815 CA8 skos:exactMatch ncbigene:767 semapv:UnspecifiedMatching -OMIM:114830 CBR1 skos:exactMatch UMLS:C1413154 semapv:UnspecifiedMatching -OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:1548 semapv:UnspecifiedMatching -OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:CBR1 semapv:UnspecifiedMatching -OMIM:114830 CBR1 skos:exactMatch ncbigene:873 semapv:UnspecifiedMatching -OMIM:114835 CES1 skos:exactMatch hgnc.symbol:1863 semapv:UnspecifiedMatching -OMIM:114835 CES1 skos:exactMatch hgnc.symbol:CES1 semapv:UnspecifiedMatching -OMIM:114835 CES1 skos:exactMatch ncbigene:1066 semapv:UnspecifiedMatching -OMIM:114840 CEL skos:exactMatch hgnc.symbol:1848 semapv:UnspecifiedMatching -OMIM:114840 CEL skos:exactMatch hgnc.symbol:CEL semapv:UnspecifiedMatching -OMIM:114840 CEL skos:exactMatch ncbigene:1056 semapv:UnspecifiedMatching -OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:2296 semapv:UnspecifiedMatching -OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:CPA1 semapv:UnspecifiedMatching -OMIM:114850 CPA1 skos:exactMatch ncbigene:1357 semapv:UnspecifiedMatching -OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:2298 semapv:UnspecifiedMatching -OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:CPA3 semapv:UnspecifiedMatching -OMIM:114851 CPA3 skos:exactMatch ncbigene:1359 semapv:UnspecifiedMatching -OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:2299 semapv:UnspecifiedMatching -OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:CPB1 semapv:UnspecifiedMatching -OMIM:114852 CPB1 skos:exactMatch ncbigene:1360 semapv:UnspecifiedMatching -OMIM:114855 CPE skos:exactMatch hgnc.symbol:2303 semapv:UnspecifiedMatching -OMIM:114855 CPE skos:exactMatch hgnc.symbol:CPE semapv:UnspecifiedMatching -OMIM:114855 CPE skos:exactMatch ncbigene:1363 semapv:UnspecifiedMatching -OMIM:114860 CPM skos:exactMatch hgnc.symbol:2311 semapv:UnspecifiedMatching -OMIM:114860 CPM skos:exactMatch hgnc.symbol:CPM semapv:UnspecifiedMatching -OMIM:114860 CPM skos:exactMatch ncbigene:1368 semapv:UnspecifiedMatching -OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:1817 semapv:UnspecifiedMatching -OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:CEACAM5 semapv:UnspecifiedMatching -OMIM:114890 CEACAM5 skos:exactMatch ncbigene:1048 semapv:UnspecifiedMatching -OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching -OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching -OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:300751 semapv:UnspecifiedMatching -OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching -OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch Orphanet:199285 semapv:UnspecifiedMatching -OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch UMLS:C2676023 semapv:UnspecifiedMatching -OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:2380 semapv:UnspecifiedMatching -OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:HAPLN1 semapv:UnspecifiedMatching -OMIM:115435 HAPLN1 skos:exactMatch ncbigene:1404 semapv:UnspecifiedMatching -OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:6907 semapv:UnspecifiedMatching -OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:MATN1 semapv:UnspecifiedMatching -OMIM:115437 MATN1 skos:exactMatch ncbigene:4146 semapv:UnspecifiedMatching -OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:2457 semapv:UnspecifiedMatching -OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:CSNK2A1 semapv:UnspecifiedMatching -OMIM:115440 CSNK2A1 skos:exactMatch ncbigene:1457 semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch UMLS:C1413762 semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:2460 semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:CSNK2B semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch ncbigene:1460 semapv:UnspecifiedMatching -OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:2459 semapv:UnspecifiedMatching -OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:CSNK2A2 semapv:UnspecifiedMatching -OMIM:115442 CSNK2A2 skos:exactMatch ncbigene:1459 semapv:UnspecifiedMatching -OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:2445 semapv:UnspecifiedMatching -OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:CSN1S1 semapv:UnspecifiedMatching -OMIM:115450 CSN1 skos:exactMatch ncbigene:1446 semapv:UnspecifiedMatching -OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:2447 semapv:UnspecifiedMatching -OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:CSN2 semapv:UnspecifiedMatching -OMIM:115460 CSN2 skos:exactMatch ncbigene:1447 semapv:UnspecifiedMatching -OMIM:115500 CAT skos:exactMatch hgnc.symbol:1516 semapv:UnspecifiedMatching -OMIM:115500 CAT skos:exactMatch hgnc.symbol:CAT semapv:UnspecifiedMatching -OMIM:115500 CAT skos:exactMatch ncbigene:847 semapv:UnspecifiedMatching -OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:12450 semapv:UnspecifiedMatching -OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:TYRP1 semapv:UnspecifiedMatching -OMIM:115501 TYRP1 skos:exactMatch ncbigene:7306 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98984 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98992 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching -OMIM:116790 COMT skos:exactMatch hgnc.symbol:2228 semapv:UnspecifiedMatching -OMIM:116790 COMT skos:exactMatch hgnc.symbol:COMT semapv:UnspecifiedMatching -OMIM:116790 COMT skos:exactMatch ncbigene:1312 semapv:UnspecifiedMatching -OMIM:116800 cataract 5, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C1861821 semapv:UnspecifiedMatching -OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C3888417 semapv:UnspecifiedMatching -OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:2509 semapv:UnspecifiedMatching -OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:CTNNA1 semapv:UnspecifiedMatching -OMIM:116805 CTNNA1 skos:exactMatch ncbigene:1495 semapv:UnspecifiedMatching -OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:2514 semapv:UnspecifiedMatching -OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:CTNNB1 semapv:UnspecifiedMatching -OMIM:116806 CTNNB1 skos:exactMatch ncbigene:1499 semapv:UnspecifiedMatching -OMIM:116810 CTSB skos:exactMatch hgnc.symbol:2527 semapv:UnspecifiedMatching -OMIM:116810 CTSB skos:exactMatch hgnc.symbol:CTSB semapv:UnspecifiedMatching -OMIM:116810 CTSB skos:exactMatch ncbigene:1508 semapv:UnspecifiedMatching -OMIM:116820 CTSH skos:exactMatch hgnc.symbol:2535 semapv:UnspecifiedMatching -OMIM:116820 CTSH skos:exactMatch hgnc.symbol:CTSH semapv:UnspecifiedMatching -OMIM:116820 CTSH skos:exactMatch ncbigene:1512 semapv:UnspecifiedMatching -OMIM:116830 CTSG skos:exactMatch hgnc.symbol:2532 semapv:UnspecifiedMatching -OMIM:116830 CTSG skos:exactMatch hgnc.symbol:CTSG semapv:UnspecifiedMatching -OMIM:116830 CTSG skos:exactMatch ncbigene:1511 semapv:UnspecifiedMatching -OMIM:116831 GZMH skos:exactMatch hgnc.symbol:4710 semapv:UnspecifiedMatching -OMIM:116831 GZMH skos:exactMatch hgnc.symbol:GZMH semapv:UnspecifiedMatching -OMIM:116831 GZMH skos:exactMatch ncbigene:2999 semapv:UnspecifiedMatching -OMIM:116840 CTSD skos:exactMatch hgnc.symbol:2529 semapv:UnspecifiedMatching -OMIM:116840 CTSD skos:exactMatch hgnc.symbol:CTSD semapv:UnspecifiedMatching -OMIM:116840 CTSD skos:exactMatch ncbigene:1509 semapv:UnspecifiedMatching -OMIM:116845 CTSS skos:exactMatch hgnc.symbol:2545 semapv:UnspecifiedMatching -OMIM:116845 CTSS skos:exactMatch hgnc.symbol:CTSS semapv:UnspecifiedMatching -OMIM:116845 CTSS skos:exactMatch ncbigene:1520 semapv:UnspecifiedMatching -OMIM:116860 cerebral cavernous malformations skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching -OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C1366911 semapv:UnspecifiedMatching -OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C2919945 semapv:UnspecifiedMatching -OMIM:116880 CTSL skos:exactMatch hgnc.symbol:2537 semapv:UnspecifiedMatching -OMIM:116880 CTSL skos:exactMatch hgnc.symbol:CTSL semapv:UnspecifiedMatching -OMIM:116880 CTSL skos:exactMatch ncbigene:1514 semapv:UnspecifiedMatching -OMIM:116890 CTSE skos:exactMatch hgnc.symbol:2530 semapv:UnspecifiedMatching -OMIM:116890 CTSE skos:exactMatch hgnc.symbol:CTSE semapv:UnspecifiedMatching -OMIM:116890 CTSE skos:exactMatch ncbigene:1510 semapv:UnspecifiedMatching -OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:2557 semapv:UnspecifiedMatching -OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:CUX1 semapv:UnspecifiedMatching -OMIM:116896 CUX1 skos:exactMatch ncbigene:1523 semapv:UnspecifiedMatching -OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:1833 semapv:UnspecifiedMatching -OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:CEBPA semapv:UnspecifiedMatching -OMIM:116897 CEBPA skos:exactMatch ncbigene:1050 semapv:UnspecifiedMatching -OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:1835 semapv:UnspecifiedMatching -OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:CEBPD semapv:UnspecifiedMatching -OMIM:116898 CEBPD skos:exactMatch ncbigene:1052 semapv:UnspecifiedMatching -OMIM:116899 CDKN1A skos:exactMatch UMLS:C0249197 semapv:UnspecifiedMatching -OMIM:116899 CDKN1A skos:exactMatch UMLS:C4015938 semapv:UnspecifiedMatching -OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:1784 semapv:UnspecifiedMatching -OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:CDKN1A semapv:UnspecifiedMatching -OMIM:116899 CDKN1A skos:exactMatch ncbigene:1026 semapv:UnspecifiedMatching -OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:19083 semapv:UnspecifiedMatching -OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:CKS1B semapv:UnspecifiedMatching -OMIM:116900 CKS1B skos:exactMatch ncbigene:1163 semapv:UnspecifiedMatching -OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:2000 semapv:UnspecifiedMatching -OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:CKS2 semapv:UnspecifiedMatching -OMIM:116901 CKS2 skos:exactMatch ncbigene:1164 semapv:UnspecifiedMatching -OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:2968 semapv:UnspecifiedMatching -OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:99842 semapv:UnspecifiedMatching -OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch UMLS:C0398738 semapv:UnspecifiedMatching -OMIM:116930 NCAM1 skos:exactMatch hgnc.symbol:7656 semapv:UnspecifiedMatching -OMIM:116930 NCAM1 skos:exactMatch hgnc.symbol:NCAM1 semapv:UnspecifiedMatching -OMIM:116930 NCAM1 skos:exactMatch ncbigene:4684 semapv:UnspecifiedMatching -OMIM:116940 CDK1 skos:exactMatch hgnc.symbol:1722 semapv:UnspecifiedMatching -OMIM:116940 CDK1 skos:exactMatch hgnc.symbol:CDK1 semapv:UnspecifiedMatching -OMIM:116940 CDK1 skos:exactMatch ncbigene:983 semapv:UnspecifiedMatching -OMIM:116945 MCM2 skos:exactMatch UMLS:C1334489 semapv:UnspecifiedMatching -OMIM:116945 MCM2 skos:exactMatch UMLS:C4310775 semapv:UnspecifiedMatching -OMIM:116945 MCM2 skos:exactMatch hgnc.symbol:6944 semapv:UnspecifiedMatching -OMIM:116945 MCM2 skos:exactMatch hgnc.symbol:MCM2 semapv:UnspecifiedMatching -OMIM:116945 MCM2 skos:exactMatch ncbigene:4171 semapv:UnspecifiedMatching -OMIM:116946 CDC27 skos:exactMatch hgnc.symbol:1728 semapv:UnspecifiedMatching -OMIM:116946 CDC27 skos:exactMatch hgnc.symbol:CDC27 semapv:UnspecifiedMatching -OMIM:116946 CDC27 skos:exactMatch ncbigene:996 semapv:UnspecifiedMatching -OMIM:116947 CDC25A skos:exactMatch hgnc.symbol:1725 semapv:UnspecifiedMatching -OMIM:116947 CDC25A skos:exactMatch hgnc.symbol:CDC25A semapv:UnspecifiedMatching -OMIM:116947 CDC25A skos:exactMatch ncbigene:993 semapv:UnspecifiedMatching -OMIM:116948 CDC34 skos:exactMatch hgnc.symbol:1734 semapv:UnspecifiedMatching -OMIM:116948 CDC34 skos:exactMatch hgnc.symbol:CDC34 semapv:UnspecifiedMatching -OMIM:116948 CDC34 skos:exactMatch ncbigene:997 semapv:UnspecifiedMatching -OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:1726 semapv:UnspecifiedMatching -OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:CDC25B semapv:UnspecifiedMatching -OMIM:116949 CDC25B skos:exactMatch ncbigene:994 semapv:UnspecifiedMatching -OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:1730 semapv:UnspecifiedMatching -OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:CDK11A semapv:UnspecifiedMatching -OMIM:116951 CDK11A skos:exactMatch ncbigene:728642 semapv:UnspecifiedMatching -OMIM:116952 CDC42 skos:exactMatch UMLS:C1366537 semapv:UnspecifiedMatching -OMIM:116952 CDC42 skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching -OMIM:116952 CDC42 skos:exactMatch hgnc.symbol:1736 semapv:UnspecifiedMatching -OMIM:116952 CDC42 skos:exactMatch hgnc.symbol:CDC42 semapv:UnspecifiedMatching -OMIM:116952 CDC42 skos:exactMatch ncbigene:998 semapv:UnspecifiedMatching -OMIM:116953 CDK2 skos:exactMatch hgnc.symbol:1771 semapv:UnspecifiedMatching -OMIM:116953 CDK2 skos:exactMatch hgnc.symbol:CDK2 semapv:UnspecifiedMatching -OMIM:116953 CDK2 skos:exactMatch ncbigene:1017 semapv:UnspecifiedMatching -OMIM:116955 CNBP skos:exactMatch hgnc.symbol:13164 semapv:UnspecifiedMatching -OMIM:116955 CNBP skos:exactMatch hgnc.symbol:CNBP semapv:UnspecifiedMatching -OMIM:116955 CNBP skos:exactMatch ncbigene:7555 semapv:UnspecifiedMatching -OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:9893 semapv:UnspecifiedMatching -OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:RBL1 semapv:UnspecifiedMatching -OMIM:116957 RBL1 skos:exactMatch ncbigene:5933 semapv:UnspecifiedMatching -OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:15773 semapv:UnspecifiedMatching -OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:MORF4 semapv:UnspecifiedMatching -OMIM:116960 MORF4 skos:exactMatch ncbigene:10934 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching -OMIM:117139 CENPA skos:exactMatch hgnc.symbol:1851 semapv:UnspecifiedMatching -OMIM:117139 CENPA skos:exactMatch hgnc.symbol:CENPA semapv:UnspecifiedMatching -OMIM:117139 CENPA skos:exactMatch ncbigene:1058 semapv:UnspecifiedMatching -OMIM:117140 CENPB skos:exactMatch UMLS:C1413339 semapv:UnspecifiedMatching -OMIM:117140 CENPB skos:exactMatch hgnc.symbol:1852 semapv:UnspecifiedMatching -OMIM:117140 CENPB skos:exactMatch hgnc.symbol:CENPB semapv:UnspecifiedMatching -OMIM:117140 CENPB skos:exactMatch ncbigene:1059 semapv:UnspecifiedMatching -OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:1854 semapv:UnspecifiedMatching -OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:CENPC semapv:UnspecifiedMatching -OMIM:117141 CENPC1 skos:exactMatch ncbigene:1060 semapv:UnspecifiedMatching -OMIM:117143 CENPE skos:exactMatch UMLS:C1413342 semapv:UnspecifiedMatching -OMIM:117143 CENPE skos:exactMatch UMLS:C4015080 semapv:UnspecifiedMatching -OMIM:117143 CENPE skos:exactMatch hgnc.symbol:1856 semapv:UnspecifiedMatching -OMIM:117143 CENPE skos:exactMatch hgnc.symbol:CENPE semapv:UnspecifiedMatching -OMIM:117143 CENPE skos:exactMatch ncbigene:1062 semapv:UnspecifiedMatching -OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch Orphanet:217012 semapv:UnspecifiedMatching -OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch UMLS:C1861736 semapv:UnspecifiedMatching -OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:1799 semapv:UnspecifiedMatching -OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:CDR2 semapv:UnspecifiedMatching -OMIM:117340 CDR2 skos:exactMatch ncbigene:1039 semapv:UnspecifiedMatching -OMIM:117550 sotos syndrome skos:exactMatch Orphanet:821 semapv:UnspecifiedMatching -OMIM:117550 sotos syndrome skos:exactMatch UMLS:C0175695 semapv:UnspecifiedMatching -OMIM:117550 sotos syndrome skos:exactMatch UMLS:C4551477 semapv:UnspecifiedMatching -OMIM:117700 CP skos:exactMatch hgnc.symbol:2295 semapv:UnspecifiedMatching -OMIM:117700 CP skos:exactMatch hgnc.symbol:CP semapv:UnspecifiedMatching -OMIM:117700 CP skos:exactMatch ncbigene:1356 semapv:UnspecifiedMatching -OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:5261 semapv:UnspecifiedMatching -OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:HSPD1 semapv:UnspecifiedMatching -OMIM:118190 HSPD1 skos:exactMatch ncbigene:3329 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0007959 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0751036 semapv:UnspecifiedMatching -OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch Orphanet:101081 semapv:UnspecifiedMatching -OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching -OMIM:118400 cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching -OMIM:118400 cherubism skos:exactMatch UMLS:C0008029 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch UMLS:C1413396 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:1943 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:CHN1 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch ncbigene:1123 semapv:UnspecifiedMatching -OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:2019 semapv:UnspecifiedMatching -OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:CLCN1 semapv:UnspecifiedMatching -OMIM:118425 CLCN1 skos:exactMatch ncbigene:1180 semapv:UnspecifiedMatching -OMIM:118440 CCK skos:exactMatch hgnc.symbol:1569 semapv:UnspecifiedMatching -OMIM:118440 CCK skos:exactMatch hgnc.symbol:CCK semapv:UnspecifiedMatching -OMIM:118440 CCK skos:exactMatch ncbigene:885 semapv:UnspecifiedMatching -OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:1570 semapv:UnspecifiedMatching -OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:CCKAR semapv:UnspecifiedMatching -OMIM:118444 CCKAR skos:exactMatch ncbigene:886 semapv:UnspecifiedMatching -OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:1571 semapv:UnspecifiedMatching -OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:CCKBR semapv:UnspecifiedMatching -OMIM:118445 CCKBR skos:exactMatch ncbigene:887 semapv:UnspecifiedMatching -OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:2651 semapv:UnspecifiedMatching -OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:CYP7A1 semapv:UnspecifiedMatching -OMIM:118455 CYP7A1 skos:exactMatch ncbigene:1581 semapv:UnspecifiedMatching -OMIM:118470 CETP skos:exactMatch hgnc.symbol:1869 semapv:UnspecifiedMatching -OMIM:118470 CETP skos:exactMatch hgnc.symbol:CETP semapv:UnspecifiedMatching -OMIM:118470 CETP skos:exactMatch ncbigene:1071 semapv:UnspecifiedMatching -OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:2590 semapv:UnspecifiedMatching -OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:CYP11A1 semapv:UnspecifiedMatching -OMIM:118485 CYP11A1 skos:exactMatch ncbigene:1583 semapv:UnspecifiedMatching -OMIM:118490 CHAT skos:exactMatch hgnc.symbol:1912 semapv:UnspecifiedMatching -OMIM:118490 CHAT skos:exactMatch hgnc.symbol:CHAT semapv:UnspecifiedMatching -OMIM:118490 CHAT skos:exactMatch ncbigene:1103 semapv:UnspecifiedMatching -OMIM:118491 CHKA skos:exactMatch hgnc.symbol:1937 semapv:UnspecifiedMatching -OMIM:118491 CHKA skos:exactMatch hgnc.symbol:CHKA semapv:UnspecifiedMatching -OMIM:118491 CHKA skos:exactMatch ncbigene:1119 semapv:UnspecifiedMatching -OMIM:118493 CHRM2 skos:exactMatch UMLS:C1413400 semapv:UnspecifiedMatching -OMIM:118493 CHRM2 skos:exactMatch hgnc.symbol:1951 semapv:UnspecifiedMatching -OMIM:118493 CHRM2 skos:exactMatch hgnc.symbol:CHRM2 semapv:UnspecifiedMatching -OMIM:118493 CHRM2 skos:exactMatch ncbigene:1129 semapv:UnspecifiedMatching -OMIM:118494 CHRM3 skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching -OMIM:118494 CHRM3 skos:exactMatch UMLS:C1332759 semapv:UnspecifiedMatching -OMIM:118494 CHRM3 skos:exactMatch hgnc.symbol:1952 semapv:UnspecifiedMatching -OMIM:118494 CHRM3 skos:exactMatch hgnc.symbol:CHRM3 semapv:UnspecifiedMatching -OMIM:118494 CHRM3 skos:exactMatch ncbigene:1131 semapv:UnspecifiedMatching -OMIM:118495 CHRM4 skos:exactMatch hgnc.symbol:1953 semapv:UnspecifiedMatching -OMIM:118495 CHRM4 skos:exactMatch hgnc.symbol:CHRM4 semapv:UnspecifiedMatching -OMIM:118495 CHRM4 skos:exactMatch ncbigene:1132 semapv:UnspecifiedMatching -OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:1954 semapv:UnspecifiedMatching -OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:CHRM5 semapv:UnspecifiedMatching -OMIM:118496 CHRM5 skos:exactMatch ncbigene:1133 semapv:UnspecifiedMatching -OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:1956 semapv:UnspecifiedMatching -OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:CHRNA2 semapv:UnspecifiedMatching -OMIM:118502 CHRNA2 skos:exactMatch ncbigene:1135 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1413403 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch UMLS:C2677571 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:1957 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:CHRNA3 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch ncbigene:1136 semapv:UnspecifiedMatching -OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:1958 semapv:UnspecifiedMatching -OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:CHRNA4 semapv:UnspecifiedMatching -OMIM:118504 CHRNA4 skos:exactMatch ncbigene:1137 semapv:UnspecifiedMatching -OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:1959 semapv:UnspecifiedMatching -OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:CHRNA5 semapv:UnspecifiedMatching -OMIM:118505 CHRNA5 skos:exactMatch ncbigene:1138 semapv:UnspecifiedMatching -OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:1962 semapv:UnspecifiedMatching -OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:CHRNB2 semapv:UnspecifiedMatching -OMIM:118507 CHRNB2 skos:exactMatch ncbigene:1141 semapv:UnspecifiedMatching -OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:1963 semapv:UnspecifiedMatching -OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:CHRNB3 semapv:UnspecifiedMatching -OMIM:118508 CHRNB3 skos:exactMatch ncbigene:1142 semapv:UnspecifiedMatching -OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:1964 semapv:UnspecifiedMatching -OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:CHRNB4 semapv:UnspecifiedMatching -OMIM:118509 CHRNB4 skos:exactMatch ncbigene:1143 semapv:UnspecifiedMatching -OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:1950 semapv:UnspecifiedMatching -OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:CHRM1 semapv:UnspecifiedMatching -OMIM:118510 CHRM1 skos:exactMatch ncbigene:1128 semapv:UnspecifiedMatching -OMIM:118511 CHRNA7 skos:exactMatch UMLS:C1413406 semapv:UnspecifiedMatching -OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:1960 semapv:UnspecifiedMatching -OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:CHRNA7 semapv:UnspecifiedMatching -OMIM:118511 CHRNA7 skos:exactMatch ncbigene:1139 semapv:UnspecifiedMatching -OMIM:118600 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching -OMIM:118600 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching -OMIM:118661 VCAN skos:exactMatch hgnc.symbol:2464 semapv:UnspecifiedMatching -OMIM:118661 VCAN skos:exactMatch hgnc.symbol:VCAN semapv:UnspecifiedMatching -OMIM:118661 VCAN skos:exactMatch ncbigene:1462 semapv:UnspecifiedMatching -OMIM:118700 chorea, benign hereditary skos:exactMatch Orphanet:1429 semapv:UnspecifiedMatching -OMIM:118700 chorea, benign hereditary skos:exactMatch UMLS:C0393584 semapv:UnspecifiedMatching -OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch Orphanet:98810 semapv:UnspecifiedMatching -OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching -OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:2441 semapv:UnspecifiedMatching -OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:CSH2 semapv:UnspecifiedMatching -OMIM:118820 CSH2 skos:exactMatch ncbigene:1443 semapv:UnspecifiedMatching -OMIM:118825 CHML skos:exactMatch hgnc.symbol:1941 semapv:UnspecifiedMatching -OMIM:118825 CHML skos:exactMatch hgnc.symbol:CHML semapv:UnspecifiedMatching -OMIM:118825 CHML skos:exactMatch ncbigene:1122 semapv:UnspecifiedMatching -OMIM:118850 CGA skos:exactMatch hgnc.symbol:1885 semapv:UnspecifiedMatching -OMIM:118850 CGA skos:exactMatch hgnc.symbol:CGA semapv:UnspecifiedMatching -OMIM:118850 CGA skos:exactMatch ncbigene:1081 semapv:UnspecifiedMatching -OMIM:118860 CGB skos:exactMatch hgnc.symbol:1886 semapv:UnspecifiedMatching -OMIM:118860 CGB skos:exactMatch hgnc.symbol:CGB3 semapv:UnspecifiedMatching -OMIM:118860 CGB skos:exactMatch ncbigene:1082 semapv:UnspecifiedMatching -OMIM:118888 CTRL skos:exactMatch hgnc.symbol:2524 semapv:UnspecifiedMatching -OMIM:118888 CTRL skos:exactMatch hgnc.symbol:CTRL semapv:UnspecifiedMatching -OMIM:118888 CTRL skos:exactMatch ncbigene:1506 semapv:UnspecifiedMatching -OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:2521 semapv:UnspecifiedMatching -OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:CTRB1 semapv:UnspecifiedMatching -OMIM:118890 CTRB1 skos:exactMatch ncbigene:1504 semapv:UnspecifiedMatching -OMIM:118910 CHGA skos:exactMatch hgnc.symbol:1929 semapv:UnspecifiedMatching -OMIM:118910 CHGA skos:exactMatch hgnc.symbol:CHGA semapv:UnspecifiedMatching -OMIM:118910 CHGA skos:exactMatch ncbigene:1113 semapv:UnspecifiedMatching -OMIM:118920 CHGB skos:exactMatch hgnc.symbol:1930 semapv:UnspecifiedMatching -OMIM:118920 CHGB skos:exactMatch hgnc.symbol:CHGB semapv:UnspecifiedMatching -OMIM:118920 CHGB skos:exactMatch ncbigene:1114 semapv:UnspecifiedMatching -OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:10575 semapv:UnspecifiedMatching -OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:SCG2 semapv:UnspecifiedMatching -OMIM:118930 SCG2 skos:exactMatch ncbigene:7857 semapv:UnspecifiedMatching -OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:2097 semapv:UnspecifiedMatching -OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:CMA1 semapv:UnspecifiedMatching -OMIM:118938 CMA1 skos:exactMatch ncbigene:1215 semapv:UnspecifiedMatching -OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:2588 semapv:UnspecifiedMatching -OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:CYMP semapv:UnspecifiedMatching -OMIM:118945 CNTF skos:exactMatch hgnc.symbol:2169 semapv:UnspecifiedMatching -OMIM:118945 CNTF skos:exactMatch hgnc.symbol:CNTF semapv:UnspecifiedMatching -OMIM:118945 CNTF skos:exactMatch ncbigene:1270 semapv:UnspecifiedMatching -OMIM:118946 CNTFR skos:exactMatch hgnc.symbol:2170 semapv:UnspecifiedMatching -OMIM:118946 CNTFR skos:exactMatch hgnc.symbol:CNTFR semapv:UnspecifiedMatching -OMIM:118946 CNTFR skos:exactMatch ncbigene:1271 semapv:UnspecifiedMatching -OMIM:118950 CS skos:exactMatch UMLS:C1413745 semapv:UnspecifiedMatching -OMIM:118950 CS skos:exactMatch hgnc.symbol:2422 semapv:UnspecifiedMatching -OMIM:118950 CS skos:exactMatch hgnc.symbol:CS semapv:UnspecifiedMatching -OMIM:118950 CS skos:exactMatch ncbigene:1431 semapv:UnspecifiedMatching -OMIM:118955 CLTC skos:exactMatch hgnc.symbol:2092 semapv:UnspecifiedMatching -OMIM:118955 CLTC skos:exactMatch hgnc.symbol:CLTC semapv:UnspecifiedMatching -OMIM:118955 CLTC skos:exactMatch ncbigene:1213 semapv:UnspecifiedMatching -OMIM:118960 CLTA skos:exactMatch hgnc.symbol:2090 semapv:UnspecifiedMatching -OMIM:118960 CLTA skos:exactMatch hgnc.symbol:CLTA semapv:UnspecifiedMatching -OMIM:118960 CLTA skos:exactMatch ncbigene:1211 semapv:UnspecifiedMatching -OMIM:118970 CLTB skos:exactMatch hgnc.symbol:2091 semapv:UnspecifiedMatching -OMIM:118970 CLTB skos:exactMatch hgnc.symbol:CLTB semapv:UnspecifiedMatching -OMIM:118970 CLTB skos:exactMatch ncbigene:1212 semapv:UnspecifiedMatching -OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:11319 semapv:UnspecifiedMatching -OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:ITPRID2 semapv:UnspecifiedMatching -OMIM:118990 ITPRID2 skos:exactMatch ncbigene:6744 semapv:UnspecifiedMatching -OMIM:119500 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching -OMIM:119500 popliteal pterygium syndrome skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching -OMIM:119900 digital clubbing, isolated congenital skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching -OMIM:119900 digital clubbing, isolated congenital skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch UMLS:C1332774 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746547 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746745 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:2204 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:COL4A3 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch ncbigene:1285 semapv:UnspecifiedMatching -OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:2203 semapv:UnspecifiedMatching -OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:COL4A2 semapv:UnspecifiedMatching -OMIM:120090 COL4A2 skos:exactMatch ncbigene:1284 semapv:UnspecifiedMatching -OMIM:120105 CLPS skos:exactMatch hgnc.symbol:2085 semapv:UnspecifiedMatching -OMIM:120105 CLPS skos:exactMatch hgnc.symbol:CLPS semapv:UnspecifiedMatching -OMIM:120105 CLPS skos:exactMatch ncbigene:1208 semapv:UnspecifiedMatching -OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:2185 semapv:UnspecifiedMatching -OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:COL10A1 semapv:UnspecifiedMatching -OMIM:120110 COL10A1 skos:exactMatch ncbigene:1300 semapv:UnspecifiedMatching -OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:2214 semapv:UnspecifiedMatching -OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:COL7A1 semapv:UnspecifiedMatching -OMIM:120120 COL7A1 skos:exactMatch ncbigene:1294 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C1413582 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C1867327 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C2673195 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C3281105 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193157 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193158 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch UMLS:C5231411 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:2202 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:COL4A1 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch ncbigene:1282 semapv:UnspecifiedMatching -OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:2206 semapv:UnspecifiedMatching -OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:COL4A4 semapv:UnspecifiedMatching -OMIM:120131 COL4A4 skos:exactMatch ncbigene:1286 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0023234 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0432214 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0542428 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0700635 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C0796173 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1413580 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836080 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836081 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836683 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C1852989 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C2020284 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C2745959 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C4225640 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch UMLS:C4551562 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:2200 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:COL2A1 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch ncbigene:1280 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C0023931 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C0029434 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C1332772 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015948 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015949 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015950 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015951 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015952 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:2197 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:COL1A1 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch ncbigene:1277 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C1332773 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C1851801 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015953 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C4303789 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310980 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310981 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:2198 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:COL1A2 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch ncbigene:1278 semapv:UnspecifiedMatching -OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:2196 semapv:UnspecifiedMatching -OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:COL19A1 semapv:UnspecifiedMatching -OMIM:120165 COL19A1 skos:exactMatch ncbigene:1310 semapv:UnspecifiedMatching -OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:2201 semapv:UnspecifiedMatching -OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:COL3A1 semapv:UnspecifiedMatching -OMIM:120180 COL3A1 skos:exactMatch ncbigene:1281 semapv:UnspecifiedMatching -OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:2210 semapv:UnspecifiedMatching -OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:COL5A2 semapv:UnspecifiedMatching -OMIM:120190 COL5A2 skos:exactMatch ncbigene:1290 semapv:UnspecifiedMatching -OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:2217 semapv:UnspecifiedMatching -OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:COL9A1 semapv:UnspecifiedMatching -OMIM:120210 COL9A1 skos:exactMatch ncbigene:1297 semapv:UnspecifiedMatching -OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:2209 semapv:UnspecifiedMatching -OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:COL5A1 semapv:UnspecifiedMatching -OMIM:120215 COL5A1 skos:exactMatch ncbigene:1289 semapv:UnspecifiedMatching -OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:14864 semapv:UnspecifiedMatching -OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:COL5A3 semapv:UnspecifiedMatching -OMIM:120216 COL5A3 skos:exactMatch ncbigene:50509 semapv:UnspecifiedMatching -OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:2211 semapv:UnspecifiedMatching -OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:COL6A1 semapv:UnspecifiedMatching -OMIM:120220 COL6A1 skos:exactMatch ncbigene:1291 semapv:UnspecifiedMatching -OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:2212 semapv:UnspecifiedMatching -OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:COL6A2 semapv:UnspecifiedMatching -OMIM:120240 COL6A2 skos:exactMatch ncbigene:1292 semapv:UnspecifiedMatching -OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:2213 semapv:UnspecifiedMatching -OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:COL6A3 semapv:UnspecifiedMatching -OMIM:120250 COL6A3 skos:exactMatch ncbigene:1293 semapv:UnspecifiedMatching -OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:2215 semapv:UnspecifiedMatching -OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:COL8A1 semapv:UnspecifiedMatching -OMIM:120251 COL8A1 skos:exactMatch ncbigene:1295 semapv:UnspecifiedMatching -OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:2216 semapv:UnspecifiedMatching -OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:COL8A2 semapv:UnspecifiedMatching -OMIM:120252 COL8A2 skos:exactMatch ncbigene:1296 semapv:UnspecifiedMatching -OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:2218 semapv:UnspecifiedMatching -OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:COL9A2 semapv:UnspecifiedMatching -OMIM:120260 COL9A2 skos:exactMatch ncbigene:1298 semapv:UnspecifiedMatching -OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:2219 semapv:UnspecifiedMatching -OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:COL9A3 semapv:UnspecifiedMatching -OMIM:120270 COL9A3 skos:exactMatch ncbigene:1299 semapv:UnspecifiedMatching -OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:2186 semapv:UnspecifiedMatching -OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:COL11A1 semapv:UnspecifiedMatching -OMIM:120280 COL11A1 skos:exactMatch ncbigene:1301 semapv:UnspecifiedMatching -OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:2187 semapv:UnspecifiedMatching -OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:COL11A2 semapv:UnspecifiedMatching -OMIM:120290 COL11A2 skos:exactMatch ncbigene:1302 semapv:UnspecifiedMatching -OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:2188 semapv:UnspecifiedMatching -OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:COL12A1 semapv:UnspecifiedMatching -OMIM:120320 COL12A1 skos:exactMatch ncbigene:1303 semapv:UnspecifiedMatching -OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:2191 semapv:UnspecifiedMatching -OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:COL14A1 semapv:UnspecifiedMatching -OMIM:120324 COL14A1 skos:exactMatch ncbigene:7373 semapv:UnspecifiedMatching -OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:2192 semapv:UnspecifiedMatching -OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:COL15A1 semapv:UnspecifiedMatching -OMIM:120325 COL15A1 skos:exactMatch ncbigene:1306 semapv:UnspecifiedMatching -OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:2193 semapv:UnspecifiedMatching -OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:COL16A1 semapv:UnspecifiedMatching -OMIM:120326 COL16A1 skos:exactMatch ncbigene:1307 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch UMLS:C1332771 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch hgnc.symbol:2195 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch hgnc.symbol:COL18A1 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch ncbigene:80781 semapv:UnspecifiedMatching -OMIM:120340 COL1AR skos:exactMatch hgnc.symbol:2199 semapv:UnspecifiedMatching -OMIM:120340 COL1AR skos:exactMatch hgnc.symbol:COL1AR semapv:UnspecifiedMatching -OMIM:120340 COL1AR skos:exactMatch ncbigene:1279 semapv:UnspecifiedMatching -OMIM:120350 COL13A1 skos:exactMatch hgnc.symbol:2190 semapv:UnspecifiedMatching -OMIM:120350 COL13A1 skos:exactMatch hgnc.symbol:COL13A1 semapv:UnspecifiedMatching -OMIM:120350 COL13A1 skos:exactMatch ncbigene:1305 semapv:UnspecifiedMatching -OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:7155 semapv:UnspecifiedMatching -OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:MMP1 semapv:UnspecifiedMatching -OMIM:120353 MMP1 skos:exactMatch ncbigene:4312 semapv:UnspecifiedMatching -OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:7175 semapv:UnspecifiedMatching -OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:MMP8 semapv:UnspecifiedMatching -OMIM:120355 MMP8 skos:exactMatch ncbigene:4317 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch UMLS:C1334522 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:7166 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:MMP2 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch ncbigene:4313 semapv:UnspecifiedMatching -OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:7176 semapv:UnspecifiedMatching -OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:MMP9 semapv:UnspecifiedMatching -OMIM:120361 MMP9 skos:exactMatch ncbigene:4318 semapv:UnspecifiedMatching -OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:2432 semapv:UnspecifiedMatching -OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:CSF1 semapv:UnspecifiedMatching -OMIM:120420 CSF1 skos:exactMatch ncbigene:1435 semapv:UnspecifiedMatching -OMIM:120435 lynch syndrome 1 skos:exactMatch Orphanet:144 semapv:UnspecifiedMatching -OMIM:120435 lynch syndrome 1 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C0879389 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C1333991 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C4015969 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:7127 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:MLH1 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch ncbigene:4292 semapv:UnspecifiedMatching -OMIM:120470 DCC skos:exactMatch hgnc.symbol:2701 semapv:UnspecifiedMatching -OMIM:120470 DCC skos:exactMatch hgnc.symbol:DCC semapv:UnspecifiedMatching -OMIM:120470 DCC skos:exactMatch ncbigene:1630 semapv:UnspecifiedMatching -OMIM:120520 MME skos:exactMatch hgnc.symbol:7154 semapv:UnspecifiedMatching -OMIM:120520 MME skos:exactMatch hgnc.symbol:MME semapv:UnspecifiedMatching -OMIM:120520 MME skos:exactMatch ncbigene:4311 semapv:UnspecifiedMatching -OMIM:120550 C1QA skos:exactMatch hgnc.symbol:1241 semapv:UnspecifiedMatching -OMIM:120550 C1QA skos:exactMatch hgnc.symbol:C1QA semapv:UnspecifiedMatching -OMIM:120550 C1QA skos:exactMatch ncbigene:712 semapv:UnspecifiedMatching -OMIM:120570 C1QB skos:exactMatch hgnc.symbol:1242 semapv:UnspecifiedMatching -OMIM:120570 C1QB skos:exactMatch hgnc.symbol:C1QB semapv:UnspecifiedMatching -OMIM:120570 C1QB skos:exactMatch ncbigene:713 semapv:UnspecifiedMatching -OMIM:120575 C1QC skos:exactMatch hgnc.symbol:1245 semapv:UnspecifiedMatching -OMIM:120575 C1QC skos:exactMatch hgnc.symbol:C1QC semapv:UnspecifiedMatching -OMIM:120575 C1QC skos:exactMatch ncbigene:714 semapv:UnspecifiedMatching -OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:15855 semapv:UnspecifiedMatching -OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:CD93 semapv:UnspecifiedMatching -OMIM:120577 C1QR1 skos:exactMatch ncbigene:22918 semapv:UnspecifiedMatching -OMIM:120580 C1S skos:exactMatch hgnc.symbol:1247 semapv:UnspecifiedMatching -OMIM:120580 C1S skos:exactMatch hgnc.symbol:C1S semapv:UnspecifiedMatching -OMIM:120580 C1S skos:exactMatch ncbigene:716 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch UMLS:C1413694 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch hgnc.symbol:2334 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch hgnc.symbol:CR1 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch ncbigene:1378 semapv:UnspecifiedMatching -OMIM:120650 CR2 skos:exactMatch hgnc.symbol:2336 semapv:UnspecifiedMatching -OMIM:120650 CR2 skos:exactMatch hgnc.symbol:CR2 semapv:UnspecifiedMatching -OMIM:120650 CR2 skos:exactMatch ncbigene:1380 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C1332655 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C1332656 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C2752037 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C4015971 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C4015972 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch UMLS:C4017429 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch hgnc.symbol:1318 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch hgnc.symbol:C3 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch ncbigene:718 semapv:UnspecifiedMatching -OMIM:120810 C4A skos:exactMatch UMLS:C1412999 semapv:UnspecifiedMatching -OMIM:120810 C4A skos:exactMatch UMLS:C3280642 semapv:UnspecifiedMatching -OMIM:120810 C4A skos:exactMatch hgnc.symbol:1323 semapv:UnspecifiedMatching -OMIM:120810 C4A skos:exactMatch hgnc.symbol:C4A semapv:UnspecifiedMatching -OMIM:120810 C4A skos:exactMatch ncbigene:720 semapv:UnspecifiedMatching -OMIM:120820 C4B skos:exactMatch UMLS:C1413000 semapv:UnspecifiedMatching -OMIM:120820 C4B skos:exactMatch hgnc.symbol:1324 semapv:UnspecifiedMatching -OMIM:120820 C4B skos:exactMatch hgnc.symbol:C4B semapv:UnspecifiedMatching -OMIM:120820 C4B skos:exactMatch ncbigene:721 semapv:UnspecifiedMatching -OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:1325 semapv:UnspecifiedMatching -OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:C4BPA semapv:UnspecifiedMatching -OMIM:120830 C4BPA skos:exactMatch ncbigene:722 semapv:UnspecifiedMatching -OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:1328 semapv:UnspecifiedMatching -OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:C4BPB semapv:UnspecifiedMatching -OMIM:120831 C4BPB skos:exactMatch ncbigene:725 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch UMLS:C1367710 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch UMLS:C3810402 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch hgnc.symbol:1331 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch hgnc.symbol:C5 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch ncbigene:727 semapv:UnspecifiedMatching -OMIM:120920 CD46 skos:exactMatch hgnc.symbol:6953 semapv:UnspecifiedMatching -OMIM:120920 CD46 skos:exactMatch hgnc.symbol:CD46 semapv:UnspecifiedMatching -OMIM:120920 CD46 skos:exactMatch ncbigene:4179 semapv:UnspecifiedMatching -OMIM:120930 C8G skos:exactMatch hgnc.symbol:1354 semapv:UnspecifiedMatching -OMIM:120930 C8G skos:exactMatch hgnc.symbol:C8G semapv:UnspecifiedMatching -OMIM:120930 C8G skos:exactMatch ncbigene:733 semapv:UnspecifiedMatching -OMIM:120940 C9 skos:exactMatch hgnc.symbol:1358 semapv:UnspecifiedMatching -OMIM:120940 C9 skos:exactMatch hgnc.symbol:C9 semapv:UnspecifiedMatching -OMIM:120940 C9 skos:exactMatch ncbigene:735 semapv:UnspecifiedMatching -OMIM:120950 C8A skos:exactMatch hgnc.symbol:1352 semapv:UnspecifiedMatching -OMIM:120950 C8A skos:exactMatch hgnc.symbol:C8A semapv:UnspecifiedMatching -OMIM:120950 C8A skos:exactMatch ncbigene:731 semapv:UnspecifiedMatching -OMIM:120960 C8B skos:exactMatch hgnc.symbol:1353 semapv:UnspecifiedMatching -OMIM:120960 C8B skos:exactMatch hgnc.symbol:C8B semapv:UnspecifiedMatching -OMIM:120960 C8B skos:exactMatch ncbigene:732 semapv:UnspecifiedMatching -OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:6149 semapv:UnspecifiedMatching -OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:ITGAM semapv:UnspecifiedMatching -OMIM:120980 ITGAM skos:exactMatch ncbigene:3684 semapv:UnspecifiedMatching -OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:2500 semapv:UnspecifiedMatching -OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:CCN2 semapv:UnspecifiedMatching -OMIM:121009 CCN2 skos:exactMatch ncbigene:1490 semapv:UnspecifiedMatching -OMIM:121010 PPBP skos:exactMatch hgnc.symbol:9240 semapv:UnspecifiedMatching -OMIM:121010 PPBP skos:exactMatch hgnc.symbol:PPBP semapv:UnspecifiedMatching -OMIM:121010 PPBP skos:exactMatch ncbigene:5473 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C1415077 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C1835672 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C2673759 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C2673760 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C2673761 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch UMLS:C5394556 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:4284 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:GJB2 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch ncbigene:2706 semapv:UnspecifiedMatching -OMIM:121012 GJA4 skos:exactMatch hgnc.symbol:4278 semapv:UnspecifiedMatching -OMIM:121012 GJA4 skos:exactMatch hgnc.symbol:GJA4 semapv:UnspecifiedMatching -OMIM:121012 GJA4 skos:exactMatch ncbigene:2701 semapv:UnspecifiedMatching -OMIM:121013 GJA5 skos:exactMatch hgnc.symbol:4279 semapv:UnspecifiedMatching -OMIM:121013 GJA5 skos:exactMatch hgnc.symbol:GJA5 semapv:UnspecifiedMatching -OMIM:121013 GJA5 skos:exactMatch ncbigene:2702 semapv:UnspecifiedMatching -OMIM:121014 GJA1 skos:exactMatch hgnc.symbol:4274 semapv:UnspecifiedMatching -OMIM:121014 GJA1 skos:exactMatch hgnc.symbol:GJA1 semapv:UnspecifiedMatching -OMIM:121014 GJA1 skos:exactMatch ncbigene:2697 semapv:UnspecifiedMatching -OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:4277 semapv:UnspecifiedMatching -OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:GJA3 semapv:UnspecifiedMatching -OMIM:121015 GJA3 skos:exactMatch ncbigene:2700 semapv:UnspecifiedMatching -OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch Orphanet:1949 semapv:UnspecifiedMatching -OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching -OMIM:121300 coproporphyria, hereditary skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching -OMIM:121300 coproporphyria, hereditary skos:exactMatch UMLS:C0162531 semapv:UnspecifiedMatching -OMIM:121360 CBFB skos:exactMatch hgnc.symbol:1539 semapv:UnspecifiedMatching -OMIM:121360 CBFB skos:exactMatch hgnc.symbol:CBFB semapv:UnspecifiedMatching -OMIM:121360 CBFB skos:exactMatch ncbigene:865 semapv:UnspecifiedMatching -OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch Orphanet:98956 semapv:UnspecifiedMatching -OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching -OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch Orphanet:98962 semapv:UnspecifiedMatching -OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching -OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching -OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching -OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching -OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching -OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching -OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching -OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching -OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching -OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:1540 semapv:UnspecifiedMatching -OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:SERPINA6 semapv:UnspecifiedMatching -OMIM:122500 SERPINA6 skos:exactMatch ncbigene:866 semapv:UnspecifiedMatching -OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:2356 semapv:UnspecifiedMatching -OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:CRHBP semapv:UnspecifiedMatching -OMIM:122559 CRHBP skos:exactMatch ncbigene:1393 semapv:UnspecifiedMatching -OMIM:122560 CRH skos:exactMatch hgnc.symbol:2355 semapv:UnspecifiedMatching -OMIM:122560 CRH skos:exactMatch hgnc.symbol:CRH semapv:UnspecifiedMatching -OMIM:122560 CRH skos:exactMatch ncbigene:1392 semapv:UnspecifiedMatching -OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:2357 semapv:UnspecifiedMatching -OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:CRHR1 semapv:UnspecifiedMatching -OMIM:122561 CRHR1 skos:exactMatch ncbigene:1394 semapv:UnspecifiedMatching -OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch Orphanet:1797 semapv:UnspecifiedMatching -OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching -OMIM:122700 coumarin resistance skos:exactMatch UMLS:C0750384 semapv:UnspecifiedMatching -OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:2610 semapv:UnspecifiedMatching -OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:CYP2A6 semapv:UnspecifiedMatching -OMIM:122720 CYP2A6 skos:exactMatch ncbigene:1548 semapv:UnspecifiedMatching -OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 semapv:UnspecifiedMatching -OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch UMLS:C1852510 semapv:UnspecifiedMatching -OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching -OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1852502 semapv:UnspecifiedMatching -OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:7392 semapv:UnspecifiedMatching -OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:MSX2 semapv:UnspecifiedMatching -OMIM:123101 MSX2 skos:exactMatch ncbigene:4488 semapv:UnspecifiedMatching -OMIM:123150 jackson-weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching -OMIM:123150 jackson-weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching -OMIM:123260 CRP skos:exactMatch hgnc.symbol:2367 semapv:UnspecifiedMatching -OMIM:123260 CRP skos:exactMatch hgnc.symbol:CRP semapv:UnspecifiedMatching -OMIM:123260 CRP skos:exactMatch ncbigene:1401 semapv:UnspecifiedMatching -OMIM:123280 CKB skos:exactMatch hgnc.symbol:1991 semapv:UnspecifiedMatching -OMIM:123280 CKB skos:exactMatch hgnc.symbol:CKB semapv:UnspecifiedMatching -OMIM:123280 CKB skos:exactMatch ncbigene:1152 semapv:UnspecifiedMatching -OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:1995 semapv:UnspecifiedMatching -OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:CKMT1B semapv:UnspecifiedMatching -OMIM:123290 CKMT1B skos:exactMatch ncbigene:1159 semapv:UnspecifiedMatching -OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:1996 semapv:UnspecifiedMatching -OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:CKMT2 semapv:UnspecifiedMatching -OMIM:123295 CKMT2 skos:exactMatch ncbigene:1160 semapv:UnspecifiedMatching -OMIM:123310 CKM skos:exactMatch hgnc.symbol:1994 semapv:UnspecifiedMatching -OMIM:123310 CKM skos:exactMatch hgnc.symbol:CKM semapv:UnspecifiedMatching -OMIM:123310 CKM skos:exactMatch ncbigene:1158 semapv:UnspecifiedMatching -OMIM:123450 cri-du-chat syndrome skos:exactMatch Orphanet:281 semapv:UnspecifiedMatching -OMIM:123450 cri-du-chat syndrome skos:exactMatch UMLS:C0010314 semapv:UnspecifiedMatching -OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:2388 semapv:UnspecifiedMatching -OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:CRYAA semapv:UnspecifiedMatching -OMIM:123580 CRYAA skos:exactMatch ncbigene:1409 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C0302254 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C1439328 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C3151236 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C3554649 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C4015991 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch UMLS:C4015992 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:2389 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:CRYAB semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch ncbigene:1410 semapv:UnspecifiedMatching -OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:2394 semapv:UnspecifiedMatching -OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:CRYBA1 semapv:UnspecifiedMatching -OMIM:123610 CRYBA1 skos:exactMatch ncbigene:1411 semapv:UnspecifiedMatching -OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:2398 semapv:UnspecifiedMatching -OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:CRYBB2 semapv:UnspecifiedMatching -OMIM:123620 CRYBB2 skos:exactMatch ncbigene:1415 semapv:UnspecifiedMatching -OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:2400 semapv:UnspecifiedMatching -OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:CRYBB3 semapv:UnspecifiedMatching -OMIM:123630 CRYBB3 skos:exactMatch ncbigene:1417 semapv:UnspecifiedMatching -OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:2396 semapv:UnspecifiedMatching -OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:CRYBA4 semapv:UnspecifiedMatching -OMIM:123631 CRYBA4 skos:exactMatch ncbigene:1413 semapv:UnspecifiedMatching -OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:2408 semapv:UnspecifiedMatching -OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:CRYGA semapv:UnspecifiedMatching -OMIM:123660 CRYGA skos:exactMatch ncbigene:1418 semapv:UnspecifiedMatching -OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:2409 semapv:UnspecifiedMatching -OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:CRYGB semapv:UnspecifiedMatching -OMIM:123670 CRYGB skos:exactMatch ncbigene:1419 semapv:UnspecifiedMatching -OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:2410 semapv:UnspecifiedMatching -OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:CRYGC semapv:UnspecifiedMatching -OMIM:123680 CRYGC skos:exactMatch ncbigene:1420 semapv:UnspecifiedMatching -OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:2411 semapv:UnspecifiedMatching -OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:CRYGD semapv:UnspecifiedMatching -OMIM:123690 CRYGD skos:exactMatch ncbigene:1421 semapv:UnspecifiedMatching -OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:2419 semapv:UnspecifiedMatching -OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:CRYZ semapv:UnspecifiedMatching -OMIM:123691 CRYZ skos:exactMatch ncbigene:1429 semapv:UnspecifiedMatching -OMIM:123695 PCYT1A skos:exactMatch UMLS:C1418396 semapv:UnspecifiedMatching -OMIM:123695 PCYT1A skos:exactMatch UMLS:C1837073 semapv:UnspecifiedMatching -OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:8754 semapv:UnspecifiedMatching -OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:PCYT1A semapv:UnspecifiedMatching -OMIM:123695 PCYT1A skos:exactMatch ncbigene:5130 semapv:UnspecifiedMatching -OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:2417 semapv:UnspecifiedMatching -OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:CRYGS semapv:UnspecifiedMatching -OMIM:123730 CRYGS skos:exactMatch ncbigene:1427 semapv:UnspecifiedMatching -OMIM:123740 CRYM skos:exactMatch hgnc.symbol:2418 semapv:UnspecifiedMatching -OMIM:123740 CRYM skos:exactMatch hgnc.symbol:CRYM semapv:UnspecifiedMatching -OMIM:123740 CRYM skos:exactMatch ncbigene:1428 semapv:UnspecifiedMatching -OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 semapv:UnspecifiedMatching -OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching -OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:783 semapv:UnspecifiedMatching -OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:ATF1 semapv:UnspecifiedMatching -OMIM:123803 ATF1 skos:exactMatch ncbigene:466 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch UMLS:C1418418 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch UMLS:C1862170 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:8778 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:PDE3A semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch ncbigene:5139 semapv:UnspecifiedMatching -OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:2345 semapv:UnspecifiedMatching -OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:CREB1 semapv:UnspecifiedMatching -OMIM:123810 CREB1 skos:exactMatch ncbigene:1385 semapv:UnspecifiedMatching -OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:784 semapv:UnspecifiedMatching -OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:ATF2 semapv:UnspecifiedMatching -OMIM:123811 ATF2 skos:exactMatch ncbigene:1386 semapv:UnspecifiedMatching -OMIM:123812 CREM skos:exactMatch hgnc.symbol:2352 semapv:UnspecifiedMatching -OMIM:123812 CREM skos:exactMatch hgnc.symbol:CREM semapv:UnspecifiedMatching -OMIM:123812 CREM skos:exactMatch ncbigene:1390 semapv:UnspecifiedMatching -OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:2148 semapv:UnspecifiedMatching -OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:CNGA1 semapv:UnspecifiedMatching -OMIM:123825 CNGA1 skos:exactMatch ncbigene:1259 semapv:UnspecifiedMatching -OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:1772 semapv:UnspecifiedMatching -OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:CDK3 semapv:UnspecifiedMatching -OMIM:123828 CDK3 skos:exactMatch ncbigene:1018 semapv:UnspecifiedMatching -OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:1773 semapv:UnspecifiedMatching -OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:CDK4 semapv:UnspecifiedMatching -OMIM:123829 CDK4 skos:exactMatch ncbigene:1019 semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch UMLS:C1413553 semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch hgnc.symbol:2158 semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch hgnc.symbol:CNP semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch ncbigene:1267 semapv:UnspecifiedMatching -OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:1774 semapv:UnspecifiedMatching -OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:CDK5 semapv:UnspecifiedMatching -OMIM:123831 CDK5 skos:exactMatch ncbigene:1020 semapv:UnspecifiedMatching -OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:1791 semapv:UnspecifiedMatching -OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:CDKN3 semapv:UnspecifiedMatching -OMIM:123832 CDKN3 skos:exactMatch ncbigene:1033 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch UMLS:C1413173 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch UMLS:C4014742 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:1583 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:CCND2 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch ncbigene:894 semapv:UnspecifiedMatching -OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:1585 semapv:UnspecifiedMatching -OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:CCND3 semapv:UnspecifiedMatching -OMIM:123834 CCND3 skos:exactMatch ncbigene:896 semapv:UnspecifiedMatching -OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:1578 semapv:UnspecifiedMatching -OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:CCNA2 semapv:UnspecifiedMatching -OMIM:123835 CCNA2 skos:exactMatch ncbigene:890 semapv:UnspecifiedMatching -OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:1579 semapv:UnspecifiedMatching -OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:CCNB1 semapv:UnspecifiedMatching -OMIM:123836 CCNB1 skos:exactMatch ncbigene:891 semapv:UnspecifiedMatching -OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:1589 semapv:UnspecifiedMatching -OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:CCNE1 semapv:UnspecifiedMatching -OMIM:123837 CCNE1 skos:exactMatch ncbigene:898 semapv:UnspecifiedMatching -OMIM:123838 CCNC skos:exactMatch hgnc.symbol:1581 semapv:UnspecifiedMatching -OMIM:123838 CCNC skos:exactMatch hgnc.symbol:CCNC semapv:UnspecifiedMatching -OMIM:123838 CCNC skos:exactMatch ncbigene:892 semapv:UnspecifiedMatching -OMIM:123840 PPIA skos:exactMatch hgnc.symbol:9253 semapv:UnspecifiedMatching -OMIM:123840 PPIA skos:exactMatch hgnc.symbol:PPIA semapv:UnspecifiedMatching -OMIM:123840 PPIA skos:exactMatch ncbigene:5478 semapv:UnspecifiedMatching -OMIM:123841 PPIB skos:exactMatch hgnc.symbol:9255 semapv:UnspecifiedMatching -OMIM:123841 PPIB skos:exactMatch hgnc.symbol:PPIB semapv:UnspecifiedMatching -OMIM:123841 PPIB skos:exactMatch ncbigene:5479 semapv:UnspecifiedMatching -OMIM:123842 PPIC skos:exactMatch hgnc.symbol:9256 semapv:UnspecifiedMatching -OMIM:123842 PPIC skos:exactMatch hgnc.symbol:PPIC semapv:UnspecifiedMatching -OMIM:123842 PPIC skos:exactMatch ncbigene:5480 semapv:UnspecifiedMatching -OMIM:123855 CST1 skos:exactMatch hgnc.symbol:2473 semapv:UnspecifiedMatching -OMIM:123855 CST1 skos:exactMatch hgnc.symbol:CST1 semapv:UnspecifiedMatching -OMIM:123855 CST1 skos:exactMatch ncbigene:1469 semapv:UnspecifiedMatching -OMIM:123856 CST2 skos:exactMatch hgnc.symbol:2474 semapv:UnspecifiedMatching -OMIM:123856 CST2 skos:exactMatch hgnc.symbol:CST2 semapv:UnspecifiedMatching -OMIM:123856 CST2 skos:exactMatch ncbigene:1470 semapv:UnspecifiedMatching -OMIM:123857 CST4 skos:exactMatch hgnc.symbol:2476 semapv:UnspecifiedMatching -OMIM:123857 CST4 skos:exactMatch hgnc.symbol:CST4 semapv:UnspecifiedMatching -OMIM:123857 CST4 skos:exactMatch ncbigene:1472 semapv:UnspecifiedMatching -OMIM:123858 CST5 skos:exactMatch hgnc.symbol:2477 semapv:UnspecifiedMatching -OMIM:123858 CST5 skos:exactMatch hgnc.symbol:CST5 semapv:UnspecifiedMatching -OMIM:123858 CST5 skos:exactMatch ncbigene:1473 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch UMLS:C1413126 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:1493 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:CARS1 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch ncbigene:833 semapv:UnspecifiedMatching -OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:2519 semapv:UnspecifiedMatching -OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:CTPS1 semapv:UnspecifiedMatching -OMIM:123860 CTPS1 skos:exactMatch ncbigene:1503 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch UMLS:C1413634 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:2265 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:COX4I1 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch ncbigene:1327 semapv:UnspecifiedMatching -OMIM:123866 COX5B skos:exactMatch hgnc.symbol:2269 semapv:UnspecifiedMatching -OMIM:123866 COX5B skos:exactMatch hgnc.symbol:COX5B semapv:UnspecifiedMatching -OMIM:123866 COX5B skos:exactMatch ncbigene:1329 semapv:UnspecifiedMatching -OMIM:123870 COX8A skos:exactMatch UMLS:C1413661 semapv:UnspecifiedMatching -OMIM:123870 COX8A skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching -OMIM:123870 COX8A skos:exactMatch hgnc.symbol:2294 semapv:UnspecifiedMatching -OMIM:123870 COX8A skos:exactMatch hgnc.symbol:COX8A semapv:UnspecifiedMatching -OMIM:123870 COX8A skos:exactMatch ncbigene:1351 semapv:UnspecifiedMatching -OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:2360 semapv:UnspecifiedMatching -OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:CRIP1 semapv:UnspecifiedMatching -OMIM:123875 CRIP1 skos:exactMatch ncbigene:1396 semapv:UnspecifiedMatching -OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:2469 semapv:UnspecifiedMatching -OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:CSRP1 semapv:UnspecifiedMatching -OMIM:123876 CSRP1 skos:exactMatch ncbigene:1465 semapv:UnspecifiedMatching -OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:10498 semapv:UnspecifiedMatching -OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:S100A8 semapv:UnspecifiedMatching -OMIM:123885 S100A8 skos:exactMatch ncbigene:6279 semapv:UnspecifiedMatching -OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:10499 semapv:UnspecifiedMatching -OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:S100A9 semapv:UnspecifiedMatching -OMIM:123886 S100A9 skos:exactMatch ncbigene:6280 semapv:UnspecifiedMatching -OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:5965 semapv:UnspecifiedMatching -OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:IL10RB semapv:UnspecifiedMatching -OMIM:123889 IL10RB skos:exactMatch ncbigene:3588 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C1332802 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C1833450 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C1852391 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C1857845 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C4015214 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch UMLS:C5436965 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:2505 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:CTLA4 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch ncbigene:1493 semapv:UnspecifiedMatching -OMIM:123900 EZR skos:exactMatch hgnc.symbol:12691 semapv:UnspecifiedMatching -OMIM:123900 EZR skos:exactMatch hgnc.symbol:EZR semapv:UnspecifiedMatching -OMIM:123900 EZR skos:exactMatch ncbigene:7430 semapv:UnspecifiedMatching -OMIM:123910 GZMB skos:exactMatch hgnc.symbol:4709 semapv:UnspecifiedMatching -OMIM:123910 GZMB skos:exactMatch hgnc.symbol:GZMB semapv:UnspecifiedMatching -OMIM:123910 GZMB skos:exactMatch ncbigene:3002 semapv:UnspecifiedMatching -OMIM:123920 CDA skos:exactMatch hgnc.symbol:1712 semapv:UnspecifiedMatching -OMIM:123920 CDA skos:exactMatch hgnc.symbol:CDA semapv:UnspecifiedMatching -OMIM:123920 CDA skos:exactMatch ncbigene:978 semapv:UnspecifiedMatching -OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:2615 semapv:UnspecifiedMatching -OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:CYP2B6 semapv:UnspecifiedMatching -OMIM:123930 CYP2B6 skos:exactMatch ncbigene:1555 semapv:UnspecifiedMatching -OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:6441 semapv:UnspecifiedMatching -OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:KRT4 semapv:UnspecifiedMatching -OMIM:123940 KRT4 skos:exactMatch ncbigene:3851 semapv:UnspecifiedMatching -OMIM:123970 CYCS skos:exactMatch hgnc.symbol:19986 semapv:UnspecifiedMatching -OMIM:123970 CYCS skos:exactMatch hgnc.symbol:CYCS semapv:UnspecifiedMatching -OMIM:123970 CYCS skos:exactMatch ncbigene:54205 semapv:UnspecifiedMatching -OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:2579 semapv:UnspecifiedMatching -OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:CYC1 semapv:UnspecifiedMatching -OMIM:123980 CYC1 skos:exactMatch ncbigene:1537 semapv:UnspecifiedMatching -OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:2287 semapv:UnspecifiedMatching -OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:COX7A1 semapv:UnspecifiedMatching -OMIM:123995 COX7A1 skos:exactMatch ncbigene:1346 semapv:UnspecifiedMatching -OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:2288 semapv:UnspecifiedMatching -OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:COX7A2 semapv:UnspecifiedMatching -OMIM:123996 COX7A2 skos:exactMatch ncbigene:1347 semapv:UnspecifiedMatching -OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:2290 semapv:UnspecifiedMatching -OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:COX7A2P2 semapv:UnspecifiedMatching -OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching -OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching -OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C1176140 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4016007 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4017437 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:2637 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:CYP3A4 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch ncbigene:1576 semapv:UnspecifiedMatching -OMIM:124015 POR skos:exactMatch hgnc.symbol:9208 semapv:UnspecifiedMatching -OMIM:124015 POR skos:exactMatch hgnc.symbol:POR semapv:UnspecifiedMatching -OMIM:124015 POR skos:exactMatch ncbigene:5447 semapv:UnspecifiedMatching -OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:2621 semapv:UnspecifiedMatching -OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:CYP2C19 semapv:UnspecifiedMatching -OMIM:124020 CYP2C19 skos:exactMatch ncbigene:1557 semapv:UnspecifiedMatching -OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:2625 semapv:UnspecifiedMatching -OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:CYP2D6 semapv:UnspecifiedMatching -OMIM:124030 CYP2D6 skos:exactMatch ncbigene:1565 semapv:UnspecifiedMatching -OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:2631 semapv:UnspecifiedMatching -OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:CYP2E1 semapv:UnspecifiedMatching -OMIM:124040 CYP2E1 skos:exactMatch ncbigene:1571 semapv:UnspecifiedMatching -OMIM:124050 DAO skos:exactMatch hgnc.symbol:2671 semapv:UnspecifiedMatching -OMIM:124050 DAO skos:exactMatch hgnc.symbol:DAO semapv:UnspecifiedMatching -OMIM:124050 DAO skos:exactMatch ncbigene:1610 semapv:UnspecifiedMatching -OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:2596 semapv:UnspecifiedMatching -OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:CYP1A2 semapv:UnspecifiedMatching -OMIM:124060 CYP1A2 skos:exactMatch ncbigene:1544 semapv:UnspecifiedMatching -OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:2632 semapv:UnspecifiedMatching -OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:CYP2F1 semapv:UnspecifiedMatching -OMIM:124070 CYP2F1 skos:exactMatch ncbigene:1572 semapv:UnspecifiedMatching -OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:2644 semapv:UnspecifiedMatching -OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:CYP4B1 semapv:UnspecifiedMatching -OMIM:124075 CYP4B1 skos:exactMatch ncbigene:1580 semapv:UnspecifiedMatching -OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:2592 semapv:UnspecifiedMatching -OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:CYP11B2 semapv:UnspecifiedMatching -OMIM:124080 CYP11B2 skos:exactMatch ncbigene:1585 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch UMLS:C1539128 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:2280 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:COX6B1 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch ncbigene:1340 semapv:UnspecifiedMatching -OMIM:124090 COX6C skos:exactMatch hgnc.symbol:2285 semapv:UnspecifiedMatching -OMIM:124090 COX6C skos:exactMatch hgnc.symbol:COX6C semapv:UnspecifiedMatching -OMIM:124090 COX6C skos:exactMatch ncbigene:1345 semapv:UnspecifiedMatching -OMIM:124092 IL10 skos:exactMatch hgnc.symbol:5962 semapv:UnspecifiedMatching -OMIM:124092 IL10 skos:exactMatch hgnc.symbol:IL10 semapv:UnspecifiedMatching -OMIM:124092 IL10 skos:exactMatch ncbigene:3586 semapv:UnspecifiedMatching -OMIM:124095 CSK skos:exactMatch hgnc.symbol:2444 semapv:UnspecifiedMatching -OMIM:124095 CSK skos:exactMatch hgnc.symbol:CSK semapv:UnspecifiedMatching -OMIM:124095 CSK skos:exactMatch ncbigene:1445 semapv:UnspecifiedMatching -OMIM:124097 DBP skos:exactMatch UMLS:C1413924 semapv:UnspecifiedMatching -OMIM:124097 DBP skos:exactMatch hgnc.symbol:2697 semapv:UnspecifiedMatching -OMIM:124097 DBP skos:exactMatch hgnc.symbol:DBP semapv:UnspecifiedMatching -OMIM:124097 DBP skos:exactMatch ncbigene:1628 semapv:UnspecifiedMatching -OMIM:124450 DDO skos:exactMatch hgnc.symbol:2727 semapv:UnspecifiedMatching -OMIM:124450 DDO skos:exactMatch hgnc.symbol:DDO semapv:UnspecifiedMatching -OMIM:124450 DDO skos:exactMatch ncbigene:8528 semapv:UnspecifiedMatching -OMIM:124500 vohwinkel syndrome skos:exactMatch Orphanet:494 semapv:UnspecifiedMatching -OMIM:124500 vohwinkel syndrome skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching -OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch Orphanet:494444 semapv:UnspecifiedMatching -OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching -OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:2761 semapv:UnspecifiedMatching -OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:DEFA1 semapv:UnspecifiedMatching -OMIM:125220 DEFA1 skos:exactMatch ncbigene:1667 semapv:UnspecifiedMatching -OMIM:125240 CD55 skos:exactMatch hgnc.symbol:2665 semapv:UnspecifiedMatching -OMIM:125240 CD55 skos:exactMatch hgnc.symbol:CD55 semapv:UnspecifiedMatching -OMIM:125240 CD55 skos:exactMatch ncbigene:1604 semapv:UnspecifiedMatching -OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching -OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:3212 semapv:UnspecifiedMatching -OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching -OMIM:125255 DCN skos:exactMatch hgnc.symbol:2705 semapv:UnspecifiedMatching -OMIM:125255 DCN skos:exactMatch hgnc.symbol:DCN semapv:UnspecifiedMatching -OMIM:125255 DCN skos:exactMatch ncbigene:1634 semapv:UnspecifiedMatching -OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:11458 semapv:UnspecifiedMatching -OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:SULT2A1 semapv:UnspecifiedMatching -OMIM:125263 SULT2A1 skos:exactMatch ncbigene:6822 semapv:UnspecifiedMatching -OMIM:125264 DEK skos:exactMatch hgnc.symbol:2768 semapv:UnspecifiedMatching -OMIM:125264 DEK skos:exactMatch hgnc.symbol:DEK semapv:UnspecifiedMatching -OMIM:125264 DEK skos:exactMatch ncbigene:7913 semapv:UnspecifiedMatching -OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:30077 semapv:UnspecifiedMatching -OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:REEP5 semapv:UnspecifiedMatching -OMIM:125265 REEP5 skos:exactMatch ncbigene:7905 semapv:UnspecifiedMatching -OMIM:125270 ALAD skos:exactMatch hgnc.symbol:395 semapv:UnspecifiedMatching -OMIM:125270 ALAD skos:exactMatch hgnc.symbol:ALAD semapv:UnspecifiedMatching -OMIM:125270 ALAD skos:exactMatch ncbigene:210 semapv:UnspecifiedMatching -OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:396 semapv:UnspecifiedMatching -OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:ALAS1 semapv:UnspecifiedMatching -OMIM:125290 ALAS1 skos:exactMatch ncbigene:211 semapv:UnspecifiedMatching -OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:3382 semapv:UnspecifiedMatching -OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:DMTN semapv:UnspecifiedMatching -OMIM:125305 EPB49 skos:exactMatch ncbigene:2039 semapv:UnspecifiedMatching -OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch Orphanet:136 semapv:UnspecifiedMatching -OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching -OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching -OMIM:125350 failure of tooth eruption, primary skos:exactMatch Orphanet:412206 semapv:UnspecifiedMatching -OMIM:125350 failure of tooth eruption, primary skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching -OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching -OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching -OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C2931846 semapv:UnspecifiedMatching -OMIM:125450 DCK skos:exactMatch hgnc.symbol:2704 semapv:UnspecifiedMatching -OMIM:125450 DCK skos:exactMatch hgnc.symbol:DCK semapv:UnspecifiedMatching -OMIM:125450 DCK skos:exactMatch ncbigene:1633 semapv:UnspecifiedMatching -OMIM:125480 major affective disorder 1 skos:exactMatch UMLS:C1852197 semapv:UnspecifiedMatching -OMIM:125485 DSPP skos:exactMatch hgnc.symbol:3054 semapv:UnspecifiedMatching -OMIM:125485 DSPP skos:exactMatch hgnc.symbol:DSPP semapv:UnspecifiedMatching -OMIM:125485 DSPP skos:exactMatch ncbigene:1834 semapv:UnspecifiedMatching -OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:2956 semapv:UnspecifiedMatching -OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:DNASE1 semapv:UnspecifiedMatching -OMIM:125505 DNASE1 skos:exactMatch ncbigene:1773 semapv:UnspecifiedMatching -OMIM:125597 DPT skos:exactMatch hgnc.symbol:3011 semapv:UnspecifiedMatching -OMIM:125597 DPT skos:exactMatch hgnc.symbol:DPT semapv:UnspecifiedMatching -OMIM:125597 DPT skos:exactMatch ncbigene:1805 semapv:UnspecifiedMatching -OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:3035 semapv:UnspecifiedMatching -OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:DSC1 semapv:UnspecifiedMatching -OMIM:125643 DSC1 skos:exactMatch ncbigene:1823 semapv:UnspecifiedMatching -OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:3036 semapv:UnspecifiedMatching -OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:DSC2 semapv:UnspecifiedMatching -OMIM:125645 DSC2 skos:exactMatch ncbigene:1824 semapv:UnspecifiedMatching -OMIM:125647 DSP skos:exactMatch hgnc.symbol:3052 semapv:UnspecifiedMatching -OMIM:125647 DSP skos:exactMatch hgnc.symbol:DSP semapv:UnspecifiedMatching -OMIM:125647 DSP skos:exactMatch ncbigene:1832 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch UMLS:C1413980 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch hgnc.symbol:2770 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch hgnc.symbol:DES semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch ncbigene:1674 semapv:UnspecifiedMatching -OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:3048 semapv:UnspecifiedMatching -OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:DSG1 semapv:UnspecifiedMatching -OMIM:125670 DSG1 skos:exactMatch ncbigene:1828 semapv:UnspecifiedMatching -OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:3049 semapv:UnspecifiedMatching -OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:DSG2 semapv:UnspecifiedMatching -OMIM:125671 DSG2 skos:exactMatch ncbigene:1829 semapv:UnspecifiedMatching -OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching -OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching -OMIM:125852 iia 1 diabetes mellitus 2 skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching -OMIM:125853 iia 2 diabetes mellitus skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:125855 DGKA skos:exactMatch hgnc.symbol:2849 semapv:UnspecifiedMatching -OMIM:125855 DGKA skos:exactMatch hgnc.symbol:DGKA semapv:UnspecifiedMatching -OMIM:125855 DGKA skos:exactMatch ncbigene:1606 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C0919428 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C2675718 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C2675719 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch UMLS:C2675722 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:2874 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:NQO1 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch ncbigene:1728 semapv:UnspecifiedMatching -OMIM:125950 DBI skos:exactMatch hgnc.symbol:2690 semapv:UnspecifiedMatching -OMIM:125950 DBI skos:exactMatch hgnc.symbol:DBI semapv:UnspecifiedMatching -OMIM:125950 DBI skos:exactMatch ncbigene:1622 semapv:UnspecifiedMatching -OMIM:126060 DHFR skos:exactMatch hgnc.symbol:2861 semapv:UnspecifiedMatching -OMIM:126060 DHFR skos:exactMatch hgnc.symbol:DHFR semapv:UnspecifiedMatching -OMIM:126060 DHFR skos:exactMatch ncbigene:1719 semapv:UnspecifiedMatching -OMIM:126063 DLST skos:exactMatch hgnc.symbol:2911 semapv:UnspecifiedMatching -OMIM:126063 DLST skos:exactMatch hgnc.symbol:DLST semapv:UnspecifiedMatching -OMIM:126063 DLST skos:exactMatch ncbigene:1743 semapv:UnspecifiedMatching -OMIM:126064 DHODH skos:exactMatch hgnc.symbol:2867 semapv:UnspecifiedMatching -OMIM:126064 DHODH skos:exactMatch hgnc.symbol:DHODH semapv:UnspecifiedMatching -OMIM:126064 DHODH skos:exactMatch ncbigene:1723 semapv:UnspecifiedMatching -OMIM:126065 CYP24A1 skos:exactMatch hgnc.symbol:2602 semapv:UnspecifiedMatching -OMIM:126065 CYP24A1 skos:exactMatch hgnc.symbol:CYP24A1 semapv:UnspecifiedMatching -OMIM:126065 CYP24A1 skos:exactMatch ncbigene:1591 semapv:UnspecifiedMatching -OMIM:126090 PCBD1 skos:exactMatch hgnc.symbol:8646 semapv:UnspecifiedMatching -OMIM:126090 PCBD1 skos:exactMatch hgnc.symbol:PCBD1 semapv:UnspecifiedMatching -OMIM:126090 PCBD1 skos:exactMatch ncbigene:5092 semapv:UnspecifiedMatching -OMIM:126110 ARNT skos:exactMatch hgnc.symbol:700 semapv:UnspecifiedMatching -OMIM:126110 ARNT skos:exactMatch hgnc.symbol:ARNT semapv:UnspecifiedMatching -OMIM:126110 ARNT skos:exactMatch ncbigene:405 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch UMLS:C1414142 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch UMLS:C4225375 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:3010 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:DPP6 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch ncbigene:1804 semapv:UnspecifiedMatching -OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:3059 semapv:UnspecifiedMatching -OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:HBEGF semapv:UnspecifiedMatching -OMIM:126150 HBEGF skos:exactMatch ncbigene:1839 semapv:UnspecifiedMatching -OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C1868685 semapv:UnspecifiedMatching -OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C3888106 semapv:UnspecifiedMatching -OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:2915 semapv:UnspecifiedMatching -OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:DLX2 semapv:UnspecifiedMatching -OMIM:126255 DLX2 skos:exactMatch ncbigene:1746 semapv:UnspecifiedMatching -OMIM:126330 DNCM skos:exactMatch ncbigene:1784 semapv:UnspecifiedMatching -OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:4095 semapv:UnspecifiedMatching -OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:GADD45A semapv:UnspecifiedMatching -OMIM:126335 GADD45A skos:exactMatch ncbigene:1647 semapv:UnspecifiedMatching -OMIM:126337 DDIT3 skos:exactMatch UMLS:C1413947 semapv:UnspecifiedMatching -OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:2726 semapv:UnspecifiedMatching -OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:DDIT3 semapv:UnspecifiedMatching -OMIM:126337 DDIT3 skos:exactMatch ncbigene:1649 semapv:UnspecifiedMatching -OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:3434 semapv:UnspecifiedMatching -OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:ERCC2 semapv:UnspecifiedMatching -OMIM:126340 ERCC2 skos:exactMatch ncbigene:2068 semapv:UnspecifiedMatching -OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:2960 semapv:UnspecifiedMatching -OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:DNASE2 semapv:UnspecifiedMatching -OMIM:126350 DNASE2 skos:exactMatch ncbigene:1777 semapv:UnspecifiedMatching -OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:2976 semapv:UnspecifiedMatching -OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:DNMT1 semapv:UnspecifiedMatching -OMIM:126375 DNMT1 skos:exactMatch ncbigene:1786 semapv:UnspecifiedMatching -OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:3433 semapv:UnspecifiedMatching -OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:ERCC1 semapv:UnspecifiedMatching -OMIM:126380 ERCC1 skos:exactMatch ncbigene:2067 semapv:UnspecifiedMatching -OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:6598 semapv:UnspecifiedMatching -OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:LIG1 semapv:UnspecifiedMatching -OMIM:126391 LIG1 skos:exactMatch ncbigene:3978 semapv:UnspecifiedMatching -OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:11986 semapv:UnspecifiedMatching -OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:TOP1 semapv:UnspecifiedMatching -OMIM:126420 TOP1 skos:exactMatch ncbigene:7150 semapv:UnspecifiedMatching -OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:11989 semapv:UnspecifiedMatching -OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:TOP2A semapv:UnspecifiedMatching -OMIM:126430 TOP2A skos:exactMatch ncbigene:7153 semapv:UnspecifiedMatching -OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:11990 semapv:UnspecifiedMatching -OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:TOP2B semapv:UnspecifiedMatching -OMIM:126431 TOP2B skos:exactMatch ncbigene:7155 semapv:UnspecifiedMatching -OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:3020 semapv:UnspecifiedMatching -OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:DRD1 semapv:UnspecifiedMatching -OMIM:126449 DRD1 skos:exactMatch ncbigene:1812 semapv:UnspecifiedMatching -OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:3023 semapv:UnspecifiedMatching -OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:DRD2 semapv:UnspecifiedMatching -OMIM:126450 DRD2 skos:exactMatch ncbigene:1813 semapv:UnspecifiedMatching -OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:3024 semapv:UnspecifiedMatching -OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:DRD3 semapv:UnspecifiedMatching -OMIM:126451 DRD3 skos:exactMatch ncbigene:1814 semapv:UnspecifiedMatching -OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:3025 semapv:UnspecifiedMatching -OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:DRD4 semapv:UnspecifiedMatching -OMIM:126452 DRD4 skos:exactMatch ncbigene:1815 semapv:UnspecifiedMatching -OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:3026 semapv:UnspecifiedMatching -OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:DRD5 semapv:UnspecifiedMatching -OMIM:126453 DRD5 skos:exactMatch ncbigene:1816 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch UMLS:C1420213 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4747621 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:11049 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:SLC6A3 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch ncbigene:6531 semapv:UnspecifiedMatching -OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching -OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching -OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1852020 semapv:UnspecifiedMatching -OMIM:126650 SLC26A3 skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching -OMIM:126650 SLC26A3 skos:exactMatch UMLS:C1335836 semapv:UnspecifiedMatching -OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:3018 semapv:UnspecifiedMatching -OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:SLC26A3 semapv:UnspecifiedMatching -OMIM:126650 SLC26A3 skos:exactMatch ncbigene:1811 semapv:UnspecifiedMatching -OMIM:126660 DBN1 skos:exactMatch hgnc.symbol:2695 semapv:UnspecifiedMatching -OMIM:126660 DBN1 skos:exactMatch hgnc.symbol:DBN1 semapv:UnspecifiedMatching -OMIM:126660 DBN1 skos:exactMatch ncbigene:1627 semapv:UnspecifiedMatching -OMIM:126700 basal laminar drusen skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching -OMIM:126700 basal laminar drusen skos:exactMatch UMLS:C0730295 semapv:UnspecifiedMatching -OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching -OMIM:128230 dystonia, dopa-responsive skos:exactMatch Orphanet:98808 semapv:UnspecifiedMatching -OMIM:128230 dystonia, dopa-responsive skos:exactMatch UMLS:C1851920 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch UMLS:C1413902 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch UMLS:C3151184 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch UMLS:C4225291 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:2666 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:DAG1 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch ncbigene:1605 semapv:UnspecifiedMatching -OMIM:128240 UTRN skos:exactMatch hgnc.symbol:12635 semapv:UnspecifiedMatching -OMIM:128240 UTRN skos:exactMatch hgnc.symbol:UTRN semapv:UnspecifiedMatching -OMIM:128240 UTRN skos:exactMatch ncbigene:7402 semapv:UnspecifiedMatching -OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:11161 semapv:UnspecifiedMatching -OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:SNRPE semapv:UnspecifiedMatching -OMIM:128260 SNRPE skos:exactMatch ncbigene:6635 semapv:UnspecifiedMatching -OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:3238 semapv:UnspecifiedMatching -OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:EGR1 semapv:UnspecifiedMatching -OMIM:128990 EGR1 skos:exactMatch ncbigene:1958 semapv:UnspecifiedMatching -OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:3241 semapv:UnspecifiedMatching -OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:EGR4 semapv:UnspecifiedMatching -OMIM:128992 EGR4 skos:exactMatch ncbigene:1961 semapv:UnspecifiedMatching -OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:3239 semapv:UnspecifiedMatching -OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:EGR2 semapv:UnspecifiedMatching -OMIM:129010 EGR2 skos:exactMatch ncbigene:1959 semapv:UnspecifiedMatching -OMIM:129190 NT5E skos:exactMatch hgnc.symbol:8021 semapv:UnspecifiedMatching -OMIM:129190 NT5E skos:exactMatch hgnc.symbol:NT5E semapv:UnspecifiedMatching -OMIM:129190 NT5E skos:exactMatch ncbigene:4907 semapv:UnspecifiedMatching -OMIM:129200 basan syndrome skos:exactMatch Orphanet:1658 semapv:UnspecifiedMatching -OMIM:129200 basan syndrome skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:3022 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching -OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch Orphanet:1899 semapv:UnspecifiedMatching -OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching -OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch Orphanet:75392 semapv:UnspecifiedMatching -OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C0268347 semapv:UnspecifiedMatching -OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C4551499 semapv:UnspecifiedMatching -OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:3308 semapv:UnspecifiedMatching -OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:CELA1 semapv:UnspecifiedMatching -OMIM:130120 CELA1 skos:exactMatch ncbigene:1990 semapv:UnspecifiedMatching -OMIM:130130 ELANE skos:exactMatch hgnc.symbol:3309 semapv:UnspecifiedMatching -OMIM:130130 ELANE skos:exactMatch hgnc.symbol:ELANE semapv:UnspecifiedMatching -OMIM:130130 ELANE skos:exactMatch ncbigene:1991 semapv:UnspecifiedMatching -OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:3311 semapv:UnspecifiedMatching -OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:SERPINB1 semapv:UnspecifiedMatching -OMIM:130135 SERPINB1 skos:exactMatch ncbigene:1992 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch UMLS:C0003499 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch UMLS:C1414382 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch hgnc.symbol:3327 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch hgnc.symbol:ELN semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch ncbigene:2006 semapv:UnspecifiedMatching -OMIM:130410 ETFB skos:exactMatch hgnc.symbol:3482 semapv:UnspecifiedMatching -OMIM:130410 ETFB skos:exactMatch hgnc.symbol:ETFB semapv:UnspecifiedMatching -OMIM:130410 ETFB skos:exactMatch ncbigene:2109 semapv:UnspecifiedMatching -OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:3377 semapv:UnspecifiedMatching -OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:EPB41 semapv:UnspecifiedMatching -OMIM:130500 EPB41 skos:exactMatch ncbigene:2035 semapv:UnspecifiedMatching -OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:3189 semapv:UnspecifiedMatching -OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:EEF1A1 semapv:UnspecifiedMatching -OMIM:130590 EEF1A1 skos:exactMatch ncbigene:1915 semapv:UnspecifiedMatching -OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:3211 semapv:UnspecifiedMatching -OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:EEF1D semapv:UnspecifiedMatching -OMIM:130592 EEF1D skos:exactMatch ncbigene:1936 semapv:UnspecifiedMatching -OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:3213 semapv:UnspecifiedMatching -OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:EEF1G semapv:UnspecifiedMatching -OMIM:130593 EEF1G skos:exactMatch ncbigene:1937 semapv:UnspecifiedMatching -OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:3214 semapv:UnspecifiedMatching -OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:EEF2 semapv:UnspecifiedMatching -OMIM:130610 EEF2 skos:exactMatch ncbigene:1938 semapv:UnspecifiedMatching -OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:10387 semapv:UnspecifiedMatching -OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:RPS14 semapv:UnspecifiedMatching -OMIM:130620 RPS14 skos:exactMatch ncbigene:6208 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:116 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:231120 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:238613 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C0004903 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C1851719 semapv:UnspecifiedMatching -OMIM:130660 EMILIN1 skos:exactMatch hgnc.symbol:19880 semapv:UnspecifiedMatching -OMIM:130660 EMILIN1 skos:exactMatch hgnc.symbol:EMILIN1 semapv:UnspecifiedMatching -OMIM:130660 EMILIN1 skos:exactMatch ncbigene:11117 semapv:UnspecifiedMatching -OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch Orphanet:2672 semapv:UnspecifiedMatching -OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch UMLS:C1851708 semapv:UnspecifiedMatching -OMIM:131170 ERV3 skos:exactMatch hgnc.symbol:3454 semapv:UnspecifiedMatching -OMIM:131170 ERV3 skos:exactMatch hgnc.symbol:ERV3-1 semapv:UnspecifiedMatching -OMIM:131170 ERV3 skos:exactMatch ncbigene:2086 semapv:UnspecifiedMatching -OMIM:131190 endogenous retroviral pol-like sequence-1 skos:exactMatch UMLS:C1414445 semapv:UnspecifiedMatching -OMIM:131195 ENG skos:exactMatch hgnc.symbol:3349 semapv:UnspecifiedMatching -OMIM:131195 ENG skos:exactMatch hgnc.symbol:ENG semapv:UnspecifiedMatching -OMIM:131195 ENG skos:exactMatch ncbigene:2022 semapv:UnspecifiedMatching -OMIM:131210 SELE skos:exactMatch hgnc.symbol:10718 semapv:UnspecifiedMatching -OMIM:131210 SELE skos:exactMatch hgnc.symbol:SELE semapv:UnspecifiedMatching -OMIM:131210 SELE skos:exactMatch ncbigene:6401 semapv:UnspecifiedMatching -OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:3665 semapv:UnspecifiedMatching -OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:FGF1 semapv:UnspecifiedMatching -OMIM:131220 FGF1 skos:exactMatch ncbigene:2246 semapv:UnspecifiedMatching -OMIM:131222 TYMP skos:exactMatch hgnc.symbol:3148 semapv:UnspecifiedMatching -OMIM:131222 TYMP skos:exactMatch hgnc.symbol:TYMP semapv:UnspecifiedMatching -OMIM:131222 TYMP skos:exactMatch ncbigene:1890 semapv:UnspecifiedMatching -OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:543 semapv:UnspecifiedMatching -OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:ANXA5 semapv:UnspecifiedMatching -OMIM:131230 ANXA5 skos:exactMatch ncbigene:308 semapv:UnspecifiedMatching -OMIM:131235 KDELR1 skos:exactMatch hgnc.symbol:6304 semapv:UnspecifiedMatching -OMIM:131235 KDELR1 skos:exactMatch hgnc.symbol:KDELR1 semapv:UnspecifiedMatching -OMIM:131235 KDELR1 skos:exactMatch ncbigene:10945 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch UMLS:C1414260 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch UMLS:C2748545 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch UMLS:C3810332 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch UMLS:C5436939 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch hgnc.symbol:3176 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch hgnc.symbol:EDN1 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch ncbigene:1906 semapv:UnspecifiedMatching -OMIM:131241 EDN2 skos:exactMatch UMLS:C1333329 semapv:UnspecifiedMatching -OMIM:131241 EDN2 skos:exactMatch hgnc.symbol:3177 semapv:UnspecifiedMatching -OMIM:131241 EDN2 skos:exactMatch hgnc.symbol:EDN2 semapv:UnspecifiedMatching -OMIM:131241 EDN2 skos:exactMatch ncbigene:1907 semapv:UnspecifiedMatching -OMIM:131242 EDN3 skos:exactMatch hgnc.symbol:3178 semapv:UnspecifiedMatching -OMIM:131242 EDN3 skos:exactMatch hgnc.symbol:EDN3 semapv:UnspecifiedMatching -OMIM:131242 EDN3 skos:exactMatch ncbigene:1908 semapv:UnspecifiedMatching -OMIM:131243 EDNRA skos:exactMatch hgnc.symbol:3179 semapv:UnspecifiedMatching -OMIM:131243 EDNRA skos:exactMatch hgnc.symbol:EDNRA semapv:UnspecifiedMatching -OMIM:131243 EDNRA skos:exactMatch ncbigene:1909 semapv:UnspecifiedMatching -OMIM:131244 EDNRB skos:exactMatch hgnc.symbol:3180 semapv:UnspecifiedMatching -OMIM:131244 EDNRB skos:exactMatch hgnc.symbol:EDNRB semapv:UnspecifiedMatching -OMIM:131244 EDNRB skos:exactMatch ncbigene:1910 semapv:UnspecifiedMatching -OMIM:131290 EN1 skos:exactMatch hgnc.symbol:3342 semapv:UnspecifiedMatching -OMIM:131290 EN1 skos:exactMatch hgnc.symbol:EN1 semapv:UnspecifiedMatching -OMIM:131290 EN1 skos:exactMatch ncbigene:2019 semapv:UnspecifiedMatching -OMIM:131310 EN2 skos:exactMatch hgnc.symbol:3343 semapv:UnspecifiedMatching -OMIM:131310 EN2 skos:exactMatch hgnc.symbol:EN2 semapv:UnspecifiedMatching -OMIM:131310 EN2 skos:exactMatch ncbigene:2020 semapv:UnspecifiedMatching -OMIM:131320 GATA3 skos:exactMatch hgnc.symbol:4172 semapv:UnspecifiedMatching -OMIM:131320 GATA3 skos:exactMatch hgnc.symbol:GATA3 semapv:UnspecifiedMatching -OMIM:131320 GATA3 skos:exactMatch ncbigene:2625 semapv:UnspecifiedMatching -OMIM:131330 PENK skos:exactMatch hgnc.symbol:8831 semapv:UnspecifiedMatching -OMIM:131330 PENK skos:exactMatch hgnc.symbol:PENK semapv:UnspecifiedMatching -OMIM:131330 PENK skos:exactMatch ncbigene:5179 semapv:UnspecifiedMatching -OMIM:131340 PDYN skos:exactMatch hgnc.symbol:8820 semapv:UnspecifiedMatching -OMIM:131340 PDYN skos:exactMatch hgnc.symbol:PDYN semapv:UnspecifiedMatching -OMIM:131340 PDYN skos:exactMatch ncbigene:5173 semapv:UnspecifiedMatching -OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:3353 semapv:UnspecifiedMatching -OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:ENO2 semapv:UnspecifiedMatching -OMIM:131360 ENO2 skos:exactMatch ncbigene:2026 semapv:UnspecifiedMatching -OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:3354 semapv:UnspecifiedMatching -OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:ENO3 semapv:UnspecifiedMatching -OMIM:131370 ENO3 skos:exactMatch ncbigene:2027 semapv:UnspecifiedMatching -OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:31670 semapv:UnspecifiedMatching -OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:ENO4 semapv:UnspecifiedMatching -OMIM:131375 ENO4 skos:exactMatch ncbigene:387712 semapv:UnspecifiedMatching -OMIM:131390 NID1 skos:exactMatch hgnc.symbol:7821 semapv:UnspecifiedMatching -OMIM:131390 NID1 skos:exactMatch hgnc.symbol:NID1 semapv:UnspecifiedMatching -OMIM:131390 NID1 skos:exactMatch ncbigene:4811 semapv:UnspecifiedMatching -OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:10046 semapv:UnspecifiedMatching -OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:RNASE3 semapv:UnspecifiedMatching -OMIM:131398 RNASE3 skos:exactMatch ncbigene:6037 semapv:UnspecifiedMatching -OMIM:131399 EPX skos:exactMatch hgnc.symbol:3423 semapv:UnspecifiedMatching -OMIM:131399 EPX skos:exactMatch hgnc.symbol:EPX semapv:UnspecifiedMatching -OMIM:131399 EPX skos:exactMatch ncbigene:8288 semapv:UnspecifiedMatching -OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:10045 semapv:UnspecifiedMatching -OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:RNASE2 semapv:UnspecifiedMatching -OMIM:131410 RNASE2 skos:exactMatch ncbigene:6036 semapv:UnspecifiedMatching -OMIM:131530 EGF skos:exactMatch hgnc.symbol:3229 semapv:UnspecifiedMatching -OMIM:131530 EGF skos:exactMatch hgnc.symbol:EGF semapv:UnspecifiedMatching -OMIM:131530 EGF skos:exactMatch ncbigene:1950 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C1414313 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C1851577 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C4016032 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch UMLS:C4016033 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch hgnc.symbol:3236 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch hgnc.symbol:EGFR semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch ncbigene:1956 semapv:UnspecifiedMatching -OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:3758 semapv:UnspecifiedMatching -OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:FLOT2 semapv:UnspecifiedMatching -OMIM:131560 FLOT2 skos:exactMatch ncbigene:2319 semapv:UnspecifiedMatching -OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch Orphanet:79410 semapv:UnspecifiedMatching -OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch UMLS:C0432321 semapv:UnspecifiedMatching -OMIM:132350 STX2 skos:exactMatch hgnc.symbol:3403 semapv:UnspecifiedMatching -OMIM:132350 STX2 skos:exactMatch hgnc.symbol:STX2 semapv:UnspecifiedMatching -OMIM:132350 STX2 skos:exactMatch ncbigene:2054 semapv:UnspecifiedMatching -OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch Orphanet:166011 semapv:UnspecifiedMatching -OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching -OMIM:132600 pilomatrixoma skos:exactMatch Orphanet:91414 semapv:UnspecifiedMatching -OMIM:132600 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching -OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:3401 semapv:UnspecifiedMatching -OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:EPHX1 semapv:UnspecifiedMatching -OMIM:132810 EPHX1 skos:exactMatch ncbigene:2052 semapv:UnspecifiedMatching -OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:3402 semapv:UnspecifiedMatching -OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:EPHX2 semapv:UnspecifiedMatching -OMIM:132811 EPHX2 skos:exactMatch ncbigene:2053 semapv:UnspecifiedMatching -OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:3143 semapv:UnspecifiedMatching -OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:EBVS1 semapv:UnspecifiedMatching -OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:7977 semapv:UnspecifiedMatching -OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:NR2F6 semapv:UnspecifiedMatching -OMIM:132880 NR2F6 skos:exactMatch ncbigene:2063 semapv:UnspecifiedMatching -OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:7975 semapv:UnspecifiedMatching -OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:NR2F1 semapv:UnspecifiedMatching -OMIM:132890 NR2F1 skos:exactMatch ncbigene:7025 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching -OMIM:133090 STOM skos:exactMatch hgnc.symbol:3383 semapv:UnspecifiedMatching -OMIM:133090 STOM skos:exactMatch hgnc.symbol:STOM semapv:UnspecifiedMatching -OMIM:133090 STOM skos:exactMatch ncbigene:2040 semapv:UnspecifiedMatching -OMIM:133170 EPO skos:exactMatch hgnc.symbol:3415 semapv:UnspecifiedMatching -OMIM:133170 EPO skos:exactMatch hgnc.symbol:EPO semapv:UnspecifiedMatching -OMIM:133170 EPO skos:exactMatch ncbigene:2056 semapv:UnspecifiedMatching -OMIM:133171 EPOR skos:exactMatch hgnc.symbol:3416 semapv:UnspecifiedMatching -OMIM:133171 EPOR skos:exactMatch hgnc.symbol:EPOR semapv:UnspecifiedMatching -OMIM:133171 EPOR skos:exactMatch ncbigene:2057 semapv:UnspecifiedMatching -OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:3462 semapv:UnspecifiedMatching -OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:ESA4 semapv:UnspecifiedMatching -OMIM:133220 ESA4 skos:exactMatch ncbigene:2090 semapv:UnspecifiedMatching -OMIM:133280 ESD skos:exactMatch hgnc.symbol:3465 semapv:UnspecifiedMatching -OMIM:133280 ESD skos:exactMatch hgnc.symbol:ESD semapv:UnspecifiedMatching -OMIM:133280 ESD skos:exactMatch ncbigene:2098 semapv:UnspecifiedMatching -OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:3464 semapv:UnspecifiedMatching -OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:ESB3 semapv:UnspecifiedMatching -OMIM:133290 ESB3 skos:exactMatch ncbigene:2097 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch UMLS:C1414461 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch UMLS:C3809250 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch UMLS:C4016037 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch UMLS:C4016038 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:3467 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:ESR1 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch ncbigene:2099 semapv:UnspecifiedMatching -OMIM:133435 RUNX1T1 skos:exactMatch hgnc.symbol:1535 semapv:UnspecifiedMatching -OMIM:133435 RUNX1T1 skos:exactMatch hgnc.symbol:RUNX1T1 semapv:UnspecifiedMatching -OMIM:133435 RUNX1T1 skos:exactMatch ncbigene:862 semapv:UnspecifiedMatching -OMIM:133440 EIF4E skos:exactMatch hgnc.symbol:3287 semapv:UnspecifiedMatching -OMIM:133440 EIF4E skos:exactMatch hgnc.symbol:EIF4E semapv:UnspecifiedMatching -OMIM:133440 EIF4E skos:exactMatch ncbigene:1977 semapv:UnspecifiedMatching -OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:3508 semapv:UnspecifiedMatching -OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:EWSR1 semapv:UnspecifiedMatching -OMIM:133450 EWSR1 skos:exactMatch ncbigene:2130 semapv:UnspecifiedMatching -OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:3435 semapv:UnspecifiedMatching -OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:ERCC3 semapv:UnspecifiedMatching -OMIM:133510 ERCC3 skos:exactMatch ncbigene:2071 semapv:UnspecifiedMatching -OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:3436 semapv:UnspecifiedMatching -OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:ERCC4 semapv:UnspecifiedMatching -OMIM:133520 ERCC4 skos:exactMatch ncbigene:2072 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch UMLS:C1333359 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch UMLS:C1851443 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch UMLS:C4016040 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:3437 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:ERCC5 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch ncbigene:2073 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90322 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90324 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching -OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:10939 semapv:UnspecifiedMatching -OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:SLC1A1 semapv:UnspecifiedMatching -OMIM:133550 SLC1A1 skos:exactMatch ncbigene:6505 semapv:UnspecifiedMatching -OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching -OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching -OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching -OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching -OMIM:134350 CFD skos:exactMatch hgnc.symbol:2771 semapv:UnspecifiedMatching -OMIM:134350 CFD skos:exactMatch hgnc.symbol:CFD semapv:UnspecifiedMatching -OMIM:134350 CFD skos:exactMatch ncbigene:1675 semapv:UnspecifiedMatching -OMIM:134370 CFH skos:exactMatch hgnc.symbol:4883 semapv:UnspecifiedMatching -OMIM:134370 CFH skos:exactMatch hgnc.symbol:CFH semapv:UnspecifiedMatching -OMIM:134370 CFH skos:exactMatch ncbigene:3075 semapv:UnspecifiedMatching -OMIM:134371 CFHR1 skos:exactMatch hgnc.symbol:4888 semapv:UnspecifiedMatching -OMIM:134371 CFHR1 skos:exactMatch hgnc.symbol:CFHR1 semapv:UnspecifiedMatching -OMIM:134371 CFHR1 skos:exactMatch ncbigene:3078 semapv:UnspecifiedMatching -OMIM:134390 F3 skos:exactMatch UMLS:C1333522 semapv:UnspecifiedMatching -OMIM:134390 F3 skos:exactMatch hgnc.symbol:3541 semapv:UnspecifiedMatching -OMIM:134390 F3 skos:exactMatch hgnc.symbol:F3 semapv:UnspecifiedMatching -OMIM:134390 F3 skos:exactMatch ncbigene:2152 semapv:UnspecifiedMatching -OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:3531 semapv:UnspecifiedMatching -OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:F13A1 semapv:UnspecifiedMatching -OMIM:134570 F13A1 skos:exactMatch ncbigene:2162 semapv:UnspecifiedMatching -OMIM:134580 F13B skos:exactMatch hgnc.symbol:3534 semapv:UnspecifiedMatching -OMIM:134580 F13B skos:exactMatch hgnc.symbol:F13B semapv:UnspecifiedMatching -OMIM:134580 F13B skos:exactMatch ncbigene:2165 semapv:UnspecifiedMatching -OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching -OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C0341703 semapv:UnspecifiedMatching -OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching -OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching -OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching -OMIM:134629 FDPS skos:exactMatch hgnc.symbol:3631 semapv:UnspecifiedMatching -OMIM:134629 FDPS skos:exactMatch hgnc.symbol:FDPS semapv:UnspecifiedMatching -OMIM:134629 FDPS skos:exactMatch ncbigene:2224 semapv:UnspecifiedMatching -OMIM:134635 FNTA skos:exactMatch hgnc.symbol:3782 semapv:UnspecifiedMatching -OMIM:134635 FNTA skos:exactMatch hgnc.symbol:FNTA semapv:UnspecifiedMatching -OMIM:134635 FNTA skos:exactMatch ncbigene:2339 semapv:UnspecifiedMatching -OMIM:134636 FNTB skos:exactMatch hgnc.symbol:3785 semapv:UnspecifiedMatching -OMIM:134636 FNTB skos:exactMatch hgnc.symbol:FNTB semapv:UnspecifiedMatching -OMIM:134636 FNTB skos:exactMatch ncbigene:2342 semapv:UnspecifiedMatching -OMIM:134637 FAS skos:exactMatch hgnc.symbol:11920 semapv:UnspecifiedMatching -OMIM:134637 FAS skos:exactMatch hgnc.symbol:FAS semapv:UnspecifiedMatching -OMIM:134637 FAS skos:exactMatch ncbigene:355 semapv:UnspecifiedMatching -OMIM:134638 FASLG skos:exactMatch hgnc.symbol:11936 semapv:UnspecifiedMatching -OMIM:134638 FASLG skos:exactMatch hgnc.symbol:FASLG semapv:UnspecifiedMatching -OMIM:134638 FASLG skos:exactMatch ncbigene:356 semapv:UnspecifiedMatching -OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:3556 semapv:UnspecifiedMatching -OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:FABP2 semapv:UnspecifiedMatching -OMIM:134640 FABP2 skos:exactMatch ncbigene:2169 semapv:UnspecifiedMatching -OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:3555 semapv:UnspecifiedMatching -OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:FABP1 semapv:UnspecifiedMatching -OMIM:134650 FABP1 skos:exactMatch ncbigene:2168 semapv:UnspecifiedMatching -OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:3557 semapv:UnspecifiedMatching -OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:FABP3 semapv:UnspecifiedMatching -OMIM:134651 FABP3 skos:exactMatch ncbigene:2170 semapv:UnspecifiedMatching -OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:4638 semapv:UnspecifiedMatching -OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:GSTP1 semapv:UnspecifiedMatching -OMIM:134660 GSTP1 skos:exactMatch ncbigene:2950 semapv:UnspecifiedMatching -OMIM:134690 FAU skos:exactMatch hgnc.symbol:3597 semapv:UnspecifiedMatching -OMIM:134690 FAU skos:exactMatch hgnc.symbol:FAU semapv:UnspecifiedMatching -OMIM:134690 FAU skos:exactMatch ncbigene:2197 semapv:UnspecifiedMatching -OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:3976 semapv:UnspecifiedMatching -OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:FTH1 semapv:UnspecifiedMatching -OMIM:134770 FTH1 skos:exactMatch ncbigene:2495 semapv:UnspecifiedMatching -OMIM:134790 FTL skos:exactMatch hgnc.symbol:3999 semapv:UnspecifiedMatching -OMIM:134790 FTL skos:exactMatch hgnc.symbol:FTL semapv:UnspecifiedMatching -OMIM:134790 FTL skos:exactMatch ncbigene:2512 semapv:UnspecifiedMatching -OMIM:134795 FBL skos:exactMatch hgnc.symbol:3599 semapv:UnspecifiedMatching -OMIM:134795 FBL skos:exactMatch hgnc.symbol:FBL semapv:UnspecifiedMatching -OMIM:134795 FBL skos:exactMatch ncbigene:2091 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C0265287 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C1414542 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C1858556 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C1861456 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C1869115 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C3280054 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C3541518 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016052 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016053 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016054 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016055 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016056 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016057 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016059 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4016060 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch UMLS:C4310796 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:3603 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:FBN1 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch ncbigene:2200 semapv:UnspecifiedMatching -OMIM:134820 FGA skos:exactMatch hgnc.symbol:3661 semapv:UnspecifiedMatching -OMIM:134820 FGA skos:exactMatch hgnc.symbol:FGA semapv:UnspecifiedMatching -OMIM:134820 FGA skos:exactMatch ncbigene:2243 semapv:UnspecifiedMatching -OMIM:134830 FGB skos:exactMatch hgnc.symbol:3662 semapv:UnspecifiedMatching -OMIM:134830 FGB skos:exactMatch hgnc.symbol:FGB semapv:UnspecifiedMatching -OMIM:134830 FGB skos:exactMatch ncbigene:2244 semapv:UnspecifiedMatching -OMIM:134850 FGG skos:exactMatch hgnc.symbol:3694 semapv:UnspecifiedMatching -OMIM:134850 FGG skos:exactMatch hgnc.symbol:FGG semapv:UnspecifiedMatching -OMIM:134850 FGG skos:exactMatch ncbigene:2266 semapv:UnspecifiedMatching -OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:3676 semapv:UnspecifiedMatching -OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:FGF2 semapv:UnspecifiedMatching -OMIM:134920 FGF2 skos:exactMatch ncbigene:2247 semapv:UnspecifiedMatching -OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:3684 semapv:UnspecifiedMatching -OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:FGF6 semapv:UnspecifiedMatching -OMIM:134921 FGF6 skos:exactMatch ncbigene:2251 semapv:UnspecifiedMatching -OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:3690 semapv:UnspecifiedMatching -OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:FGFR3 semapv:UnspecifiedMatching -OMIM:134934 FGFR3 skos:exactMatch ncbigene:2261 semapv:UnspecifiedMatching -OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:3691 semapv:UnspecifiedMatching -OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:FGFR4 semapv:UnspecifiedMatching -OMIM:134935 FGFR4 skos:exactMatch ncbigene:2264 semapv:UnspecifiedMatching -OMIM:135290 desmoid disease, hereditary skos:exactMatch Orphanet:873 semapv:UnspecifiedMatching -OMIM:135290 desmoid disease, hereditary skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching -OMIM:135600 FN1 skos:exactMatch hgnc.symbol:3778 semapv:UnspecifiedMatching -OMIM:135600 FN1 skos:exactMatch hgnc.symbol:FN1 semapv:UnspecifiedMatching -OMIM:135600 FN1 skos:exactMatch ncbigene:2335 semapv:UnspecifiedMatching -OMIM:135620 ITGA5 skos:exactMatch hgnc.symbol:6141 semapv:UnspecifiedMatching -OMIM:135620 ITGA5 skos:exactMatch hgnc.symbol:ITGA5 semapv:UnspecifiedMatching -OMIM:135620 ITGA5 skos:exactMatch ncbigene:3678 semapv:UnspecifiedMatching -OMIM:135630 ITGB1 skos:exactMatch hgnc.symbol:6153 semapv:UnspecifiedMatching -OMIM:135630 ITGB1 skos:exactMatch hgnc.symbol:ITGB1 semapv:UnspecifiedMatching -OMIM:135630 ITGB1 skos:exactMatch ncbigene:3688 semapv:UnspecifiedMatching -OMIM:135750 laurin-sandrow syndrome skos:exactMatch Orphanet:2378 semapv:UnspecifiedMatching -OMIM:135750 laurin-sandrow syndrome skos:exactMatch UMLS:C1851100 semapv:UnspecifiedMatching -OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:3600 semapv:UnspecifiedMatching -OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:FBLN1 semapv:UnspecifiedMatching -OMIM:135820 FBLN1 skos:exactMatch ncbigene:2192 semapv:UnspecifiedMatching -OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:3601 semapv:UnspecifiedMatching -OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:FBLN2 semapv:UnspecifiedMatching -OMIM:135821 FBLN2 skos:exactMatch ncbigene:2199 semapv:UnspecifiedMatching -OMIM:135900 coffin-siris syndrome 1 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching -OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C0265338 semapv:UnspecifiedMatching -OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching -OMIM:135940 FLG skos:exactMatch hgnc.symbol:3748 semapv:UnspecifiedMatching -OMIM:135940 FLG skos:exactMatch hgnc.symbol:FLG semapv:UnspecifiedMatching -OMIM:135940 FLG skos:exactMatch ncbigene:2312 semapv:UnspecifiedMatching -OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:3769 semapv:UnspecifiedMatching -OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:FMO1 semapv:UnspecifiedMatching -OMIM:136130 FMO1 skos:exactMatch ncbigene:2326 semapv:UnspecifiedMatching -OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:3772 semapv:UnspecifiedMatching -OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:FMO4 semapv:UnspecifiedMatching -OMIM:136131 FMO4 skos:exactMatch ncbigene:2329 semapv:UnspecifiedMatching -OMIM:136132 FMO3 skos:exactMatch hgnc.symbol:3771 semapv:UnspecifiedMatching -OMIM:136132 FMO3 skos:exactMatch hgnc.symbol:FMO3 semapv:UnspecifiedMatching -OMIM:136132 FMO3 skos:exactMatch ncbigene:2328 semapv:UnspecifiedMatching -OMIM:136350 FGFR1 skos:exactMatch hgnc.symbol:3688 semapv:UnspecifiedMatching -OMIM:136350 FGFR1 skos:exactMatch hgnc.symbol:FGFR1 semapv:UnspecifiedMatching -OMIM:136350 FGFR1 skos:exactMatch ncbigene:2260 semapv:UnspecifiedMatching -OMIM:136351 FLT3 skos:exactMatch hgnc.symbol:3765 semapv:UnspecifiedMatching -OMIM:136351 FLT3 skos:exactMatch hgnc.symbol:FLT3 semapv:UnspecifiedMatching -OMIM:136351 FLT3 skos:exactMatch ncbigene:2322 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch UMLS:C1333569 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch UMLS:C4016109 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:3767 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:FLT4 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch ncbigene:2324 semapv:UnspecifiedMatching -OMIM:136425 FOLR2 skos:exactMatch UMLS:C1414664 semapv:UnspecifiedMatching -OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:3793 semapv:UnspecifiedMatching -OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:FOLR2 semapv:UnspecifiedMatching -OMIM:136425 FOLR2 skos:exactMatch ncbigene:2350 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch UMLS:C1414662 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:3791 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:FOLR1 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch ncbigene:2348 semapv:UnspecifiedMatching -OMIM:136435 FSHR skos:exactMatch hgnc.symbol:3969 semapv:UnspecifiedMatching -OMIM:136435 FSHR skos:exactMatch hgnc.symbol:FSHR semapv:UnspecifiedMatching -OMIM:136435 FSHR skos:exactMatch ncbigene:2492 semapv:UnspecifiedMatching -OMIM:136440 KDSR skos:exactMatch hgnc.symbol:4021 semapv:UnspecifiedMatching -OMIM:136440 KDSR skos:exactMatch hgnc.symbol:KDSR semapv:UnspecifiedMatching -OMIM:136440 KDSR skos:exactMatch ncbigene:2531 semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch UMLS:C1414830 semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch hgnc.symbol:3971 semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch hgnc.symbol:FST semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch ncbigene:10468 semapv:UnspecifiedMatching -OMIM:136510 FPGS skos:exactMatch hgnc.symbol:3824 semapv:UnspecifiedMatching -OMIM:136510 FPGS skos:exactMatch hgnc.symbol:FPGS semapv:UnspecifiedMatching -OMIM:136510 FPGS skos:exactMatch ncbigene:2356 semapv:UnspecifiedMatching -OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:13718 semapv:UnspecifiedMatching -OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:FOSL1 semapv:UnspecifiedMatching -OMIM:136515 FOSL1 skos:exactMatch ncbigene:8061 semapv:UnspecifiedMatching -OMIM:136530 FSHB skos:exactMatch hgnc.symbol:3964 semapv:UnspecifiedMatching -OMIM:136530 FSHB skos:exactMatch hgnc.symbol:FSHB semapv:UnspecifiedMatching -OMIM:136530 FSHB skos:exactMatch ncbigene:2488 semapv:UnspecifiedMatching -OMIM:136533 FOXO1A skos:exactMatch hgnc.symbol:3819 semapv:UnspecifiedMatching -OMIM:136533 FOXO1A skos:exactMatch hgnc.symbol:FOXO1 semapv:UnspecifiedMatching -OMIM:136533 FOXO1A skos:exactMatch ncbigene:2308 semapv:UnspecifiedMatching -OMIM:136535 FMN1 skos:exactMatch hgnc.symbol:3768 semapv:UnspecifiedMatching -OMIM:136535 FMN1 skos:exactMatch hgnc.symbol:FMN1 semapv:UnspecifiedMatching -OMIM:136535 FMN1 skos:exactMatch ncbigene:342184 semapv:UnspecifiedMatching -OMIM:136537 FPR1 skos:exactMatch UMLS:C1333574 semapv:UnspecifiedMatching -OMIM:136537 FPR1 skos:exactMatch UMLS:C5394557 semapv:UnspecifiedMatching -OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:3826 semapv:UnspecifiedMatching -OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:FPR1 semapv:UnspecifiedMatching -OMIM:136537 FPR1 skos:exactMatch ncbigene:2357 semapv:UnspecifiedMatching -OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:3827 semapv:UnspecifiedMatching -OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:FPR2 semapv:UnspecifiedMatching -OMIM:136538 FPR2 skos:exactMatch ncbigene:2358 semapv:UnspecifiedMatching -OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:3828 semapv:UnspecifiedMatching -OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:FPR3 semapv:UnspecifiedMatching -OMIM:136539 FPR3 skos:exactMatch ncbigene:2359 semapv:UnspecifiedMatching -OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch Orphanet:75327 semapv:UnspecifiedMatching -OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching -OMIM:136760 frontonasal dysplasia 1 skos:exactMatch Orphanet:391474 semapv:UnspecifiedMatching -OMIM:136760 frontonasal dysplasia 1 skos:exactMatch UMLS:C1876203 semapv:UnspecifiedMatching -OMIM:136820 FUCA2 skos:exactMatch hgnc.symbol:4008 semapv:UnspecifiedMatching -OMIM:136820 FUCA2 skos:exactMatch hgnc.symbol:FUCA2 semapv:UnspecifiedMatching -OMIM:136820 FUCA2 skos:exactMatch ncbigene:2519 semapv:UnspecifiedMatching -OMIM:136835 FUT5 skos:exactMatch hgnc.symbol:4016 semapv:UnspecifiedMatching -OMIM:136835 FUT5 skos:exactMatch hgnc.symbol:FUT5 semapv:UnspecifiedMatching -OMIM:136835 FUT5 skos:exactMatch ncbigene:2527 semapv:UnspecifiedMatching -OMIM:136836 FUT6 skos:exactMatch hgnc.symbol:4017 semapv:UnspecifiedMatching -OMIM:136836 FUT6 skos:exactMatch hgnc.symbol:FUT6 semapv:UnspecifiedMatching -OMIM:136836 FUT6 skos:exactMatch ncbigene:2528 semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch UMLS:C1366530 semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch hgnc.symbol:3700 semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch hgnc.symbol:FH semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch ncbigene:2271 semapv:UnspecifiedMatching -OMIM:136950 FURIN skos:exactMatch hgnc.symbol:8568 semapv:UnspecifiedMatching -OMIM:136950 FURIN skos:exactMatch hgnc.symbol:FURIN semapv:UnspecifiedMatching -OMIM:136950 FURIN skos:exactMatch ncbigene:5045 semapv:UnspecifiedMatching -OMIM:137010 FEA skos:exactMatch ncbigene:7959 semapv:UnspecifiedMatching -OMIM:137020 GFUS skos:exactMatch hgnc.symbol:12390 semapv:UnspecifiedMatching -OMIM:137020 GFUS skos:exactMatch hgnc.symbol:GFUS semapv:UnspecifiedMatching -OMIM:137020 GFUS skos:exactMatch ncbigene:7264 semapv:UnspecifiedMatching -OMIM:137025 FYN skos:exactMatch hgnc.symbol:4037 semapv:UnspecifiedMatching -OMIM:137025 FYN skos:exactMatch hgnc.symbol:FYN semapv:UnspecifiedMatching -OMIM:137025 FYN skos:exactMatch ncbigene:2534 semapv:UnspecifiedMatching -OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:4543 semapv:UnspecifiedMatching -OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:GRK4 semapv:UnspecifiedMatching -OMIM:137026 GRK4 skos:exactMatch ncbigene:2868 semapv:UnspecifiedMatching -OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:4119 semapv:UnspecifiedMatching -OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:GALK2 semapv:UnspecifiedMatching -OMIM:137028 GALK2 skos:exactMatch ncbigene:2585 semapv:UnspecifiedMatching -OMIM:137030 GALM skos:exactMatch UMLS:C1428343 semapv:UnspecifiedMatching -OMIM:137030 GALM skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching -OMIM:137030 GALM skos:exactMatch hgnc.symbol:24063 semapv:UnspecifiedMatching -OMIM:137030 GALM skos:exactMatch hgnc.symbol:GALM semapv:UnspecifiedMatching -OMIM:137030 GALM skos:exactMatch ncbigene:130589 semapv:UnspecifiedMatching -OMIM:137035 GAL skos:exactMatch hgnc.symbol:4114 semapv:UnspecifiedMatching -OMIM:137035 GAL skos:exactMatch hgnc.symbol:GAL semapv:UnspecifiedMatching -OMIM:137035 GAL skos:exactMatch ncbigene:51083 semapv:UnspecifiedMatching -OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:924 semapv:UnspecifiedMatching -OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:B4GALT1 semapv:UnspecifiedMatching -OMIM:137060 B4GALT1 skos:exactMatch ncbigene:2683 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C1414860 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C1842675 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C2750729 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C3539195 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch UMLS:C4016110 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch hgnc.symbol:4010 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch hgnc.symbol:FUS semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch ncbigene:2521 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch UMLS:C1414909 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch UMLS:C4016111 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:4076 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:GABRA2 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch ncbigene:2555 semapv:UnspecifiedMatching -OMIM:137141 GABRA4 skos:exactMatch UMLS:C1414911 semapv:UnspecifiedMatching -OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:4078 semapv:UnspecifiedMatching -OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:GABRA4 semapv:UnspecifiedMatching -OMIM:137141 GABRA4 skos:exactMatch ncbigene:2557 semapv:UnspecifiedMatching -OMIM:137142 GABRA5 skos:exactMatch UMLS:C1414912 semapv:UnspecifiedMatching -OMIM:137142 GABRA5 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching -OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:4079 semapv:UnspecifiedMatching -OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:GABRA5 semapv:UnspecifiedMatching -OMIM:137142 GABRA5 skos:exactMatch ncbigene:2558 semapv:UnspecifiedMatching -OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:4080 semapv:UnspecifiedMatching -OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:GABRA6 semapv:UnspecifiedMatching -OMIM:137143 GABRA6 skos:exactMatch ncbigene:2559 semapv:UnspecifiedMatching -OMIM:137150 ABAT skos:exactMatch hgnc.symbol:23 semapv:UnspecifiedMatching -OMIM:137150 ABAT skos:exactMatch hgnc.symbol:ABAT semapv:UnspecifiedMatching -OMIM:137150 ABAT skos:exactMatch ncbigene:18 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C1414908 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C1970160 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C2749942 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch UMLS:C4013473 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:4075 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:GABRA1 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch ncbigene:2554 semapv:UnspecifiedMatching -OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:4090 semapv:UnspecifiedMatching -OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:GABRR1 semapv:UnspecifiedMatching -OMIM:137161 GABRR1 skos:exactMatch ncbigene:2569 semapv:UnspecifiedMatching -OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:4091 semapv:UnspecifiedMatching -OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:GABRR2 semapv:UnspecifiedMatching -OMIM:137162 GABRR2 skos:exactMatch ncbigene:2570 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch UMLS:C1414917 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch UMLS:C2751603 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch UMLS:C2751604 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch UMLS:C3150399 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch hgnc.symbol:4084 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch hgnc.symbol:GABRD semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch ncbigene:2563 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C1414920 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C1858674 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C1969810 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:4087 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:GABRG2 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch ncbigene:2566 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch UMLS:C1420206 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch UMLS:C4085238 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:11042 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:SLC6A1 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch ncbigene:6529 semapv:UnspecifiedMatching -OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:4086 semapv:UnspecifiedMatching -OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:GABRG1 semapv:UnspecifiedMatching -OMIM:137166 GABRG1 skos:exactMatch ncbigene:2565 semapv:UnspecifiedMatching -OMIM:137167 GGCX skos:exactMatch hgnc.symbol:4247 semapv:UnspecifiedMatching -OMIM:137167 GGCX skos:exactMatch hgnc.symbol:GGCX semapv:UnspecifiedMatching -OMIM:137167 GGCX skos:exactMatch ncbigene:2677 semapv:UnspecifiedMatching -OMIM:137168 GGT5 skos:exactMatch hgnc.symbol:4260 semapv:UnspecifiedMatching -OMIM:137168 GGT5 skos:exactMatch hgnc.symbol:GGT5 semapv:UnspecifiedMatching -OMIM:137168 GGT5 skos:exactMatch ncbigene:2687 semapv:UnspecifiedMatching -OMIM:137170 GGCT skos:exactMatch hgnc.symbol:21705 semapv:UnspecifiedMatching -OMIM:137170 GGCT skos:exactMatch hgnc.symbol:GGCT semapv:UnspecifiedMatching -OMIM:137170 GGCT skos:exactMatch ncbigene:79017 semapv:UnspecifiedMatching -OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:4251 semapv:UnspecifiedMatching -OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:GGT2P semapv:UnspecifiedMatching -OMIM:137181 GGT2 skos:exactMatch ncbigene:728441 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch UMLS:C1414914 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:4081 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:GABRB1 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch ncbigene:2560 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C1414916 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C2677087 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:4083 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:GABRB3 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch ncbigene:2562 semapv:UnspecifiedMatching -OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch Orphanet:324442 semapv:UnspecifiedMatching -OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch UMLS:C0242287 semapv:UnspecifiedMatching -OMIM:137207 LRRC32 skos:exactMatch UMLS:C1537607 semapv:UnspecifiedMatching -OMIM:137207 LRRC32 skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching -OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:4161 semapv:UnspecifiedMatching -OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:LRRC32 semapv:UnspecifiedMatching -OMIM:137207 LRRC32 skos:exactMatch ncbigene:2615 semapv:UnspecifiedMatching -OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:819 semapv:UnspecifiedMatching -OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:ATP4A semapv:UnspecifiedMatching -OMIM:137216 ATP4A skos:exactMatch ncbigene:495 semapv:UnspecifiedMatching -OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:820 semapv:UnspecifiedMatching -OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:ATP4B semapv:UnspecifiedMatching -OMIM:137217 ATP4B skos:exactMatch ncbigene:496 semapv:UnspecifiedMatching -OMIM:137240 GIP skos:exactMatch hgnc.symbol:4270 semapv:UnspecifiedMatching -OMIM:137240 GIP skos:exactMatch hgnc.symbol:GIP semapv:UnspecifiedMatching -OMIM:137240 GIP skos:exactMatch ncbigene:2695 semapv:UnspecifiedMatching -OMIM:137241 GIPR skos:exactMatch UMLS:C1333675 semapv:UnspecifiedMatching -OMIM:137241 GIPR skos:exactMatch hgnc.symbol:4271 semapv:UnspecifiedMatching -OMIM:137241 GIPR skos:exactMatch hgnc.symbol:GIPR semapv:UnspecifiedMatching -OMIM:137241 GIPR skos:exactMatch ncbigene:2696 semapv:UnspecifiedMatching -OMIM:137250 GAST skos:exactMatch hgnc.symbol:4164 semapv:UnspecifiedMatching -OMIM:137250 GAST skos:exactMatch hgnc.symbol:GAST semapv:UnspecifiedMatching -OMIM:137250 GAST skos:exactMatch ncbigene:2520 semapv:UnspecifiedMatching -OMIM:137260 GRP skos:exactMatch hgnc.symbol:4605 semapv:UnspecifiedMatching -OMIM:137260 GRP skos:exactMatch hgnc.symbol:GRP semapv:UnspecifiedMatching -OMIM:137260 GRP skos:exactMatch ncbigene:2922 semapv:UnspecifiedMatching -OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch Orphanet:2494 semapv:UnspecifiedMatching -OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C0017155 semapv:UnspecifiedMatching -OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C2936660 semapv:UnspecifiedMatching -OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:11530 semapv:UnspecifiedMatching -OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:TACSTD2 semapv:UnspecifiedMatching -OMIM:137290 TACSTD2 skos:exactMatch ncbigene:4070 semapv:UnspecifiedMatching -OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:4171 semapv:UnspecifiedMatching -OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:GATA2 semapv:UnspecifiedMatching -OMIM:137295 GATA2 skos:exactMatch ncbigene:2624 semapv:UnspecifiedMatching -OMIM:137350 GSN skos:exactMatch hgnc.symbol:4620 semapv:UnspecifiedMatching -OMIM:137350 GSN skos:exactMatch hgnc.symbol:GSN semapv:UnspecifiedMatching -OMIM:137350 GSN skos:exactMatch ncbigene:2934 semapv:UnspecifiedMatching -OMIM:137440 gerstmann-straussler disease skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching -OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching -OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C2931022 semapv:UnspecifiedMatching -OMIM:137570 SLC20A1 skos:exactMatch UMLS:C1456395 semapv:UnspecifiedMatching -OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:10946 semapv:UnspecifiedMatching -OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:SLC20A1 semapv:UnspecifiedMatching -OMIM:137570 SLC20A1 skos:exactMatch ncbigene:6574 semapv:UnspecifiedMatching -OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C0339573 semapv:UnspecifiedMatching -OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C1842026 semapv:UnspecifiedMatching -OMIM:137780 GFAP skos:exactMatch hgnc.symbol:4235 semapv:UnspecifiedMatching -OMIM:137780 GFAP skos:exactMatch hgnc.symbol:GFAP semapv:UnspecifiedMatching -OMIM:137780 GFAP skos:exactMatch ncbigene:2670 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:182067 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251630 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:301 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:360 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:94 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1621958 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1842010 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching -OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 semapv:UnspecifiedMatching -OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C1841989 semapv:UnspecifiedMatching -OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching -OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:7224 semapv:UnspecifiedMatching -OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:MPV17 semapv:UnspecifiedMatching -OMIM:137960 MPV17 skos:exactMatch ncbigene:4358 semapv:UnspecifiedMatching -OMIM:138030 GCG skos:exactMatch UMLS:C1333664 semapv:UnspecifiedMatching -OMIM:138030 GCG skos:exactMatch hgnc.symbol:4191 semapv:UnspecifiedMatching -OMIM:138030 GCG skos:exactMatch hgnc.symbol:GCG semapv:UnspecifiedMatching -OMIM:138030 GCG skos:exactMatch ncbigene:2641 semapv:UnspecifiedMatching -OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:4324 semapv:UnspecifiedMatching -OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:GLP1R semapv:UnspecifiedMatching -OMIM:138032 GLP1R skos:exactMatch ncbigene:2740 semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch UMLS:C1415011 semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch UMLS:C5394558 semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch hgnc.symbol:4192 semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch hgnc.symbol:GCGR semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch ncbigene:2642 semapv:UnspecifiedMatching -OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:7978 semapv:UnspecifiedMatching -OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:NR3C1 semapv:UnspecifiedMatching -OMIM:138040 NR3C1 skos:exactMatch ncbigene:2908 semapv:UnspecifiedMatching -OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:4592 semapv:UnspecifiedMatching -OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:NR3C1P1 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C1415014 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C1865290 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch hgnc.symbol:4195 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch hgnc.symbol:GCK semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch ncbigene:2645 semapv:UnspecifiedMatching -OMIM:138090 H6PD skos:exactMatch hgnc.symbol:4795 semapv:UnspecifiedMatching -OMIM:138090 H6PD skos:exactMatch hgnc.symbol:H6PD semapv:UnspecifiedMatching -OMIM:138090 H6PD skos:exactMatch ncbigene:9563 semapv:UnspecifiedMatching -OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:5238 semapv:UnspecifiedMatching -OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:HSPA5 semapv:UnspecifiedMatching -OMIM:138120 HSPA5 skos:exactMatch ncbigene:3309 semapv:UnspecifiedMatching -OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:4335 semapv:UnspecifiedMatching -OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:GLUD1 semapv:UnspecifiedMatching -OMIM:138130 GLUD1 skos:exactMatch ncbigene:2746 semapv:UnspecifiedMatching -OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:11005 semapv:UnspecifiedMatching -OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:SLC2A1 semapv:UnspecifiedMatching -OMIM:138140 SLC2A1 skos:exactMatch ncbigene:6513 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch UMLS:C1415182 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:4433 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:GOT2 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch ncbigene:2806 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch UMLS:C1420172 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3495427 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:11006 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:SLC2A2 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch ncbigene:6514 semapv:UnspecifiedMatching -OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:11007 semapv:UnspecifiedMatching -OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:SLC2A3 semapv:UnspecifiedMatching -OMIM:138170 SLC2A3 skos:exactMatch ncbigene:6515 semapv:UnspecifiedMatching -OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:4432 semapv:UnspecifiedMatching -OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:GOT1 semapv:UnspecifiedMatching -OMIM:138180 GOT1 skos:exactMatch ncbigene:2805 semapv:UnspecifiedMatching -OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:11009 semapv:UnspecifiedMatching -OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:SLC2A4 semapv:UnspecifiedMatching -OMIM:138190 SLC2A4 skos:exactMatch ncbigene:6517 semapv:UnspecifiedMatching -OMIM:138200 GPT skos:exactMatch hgnc.symbol:4552 semapv:UnspecifiedMatching -OMIM:138200 GPT skos:exactMatch hgnc.symbol:GPT semapv:UnspecifiedMatching -OMIM:138200 GPT skos:exactMatch ncbigene:2875 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch UMLS:C1512213 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:18062 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:GPT2 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch ncbigene:84706 semapv:UnspecifiedMatching -OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:11010 semapv:UnspecifiedMatching -OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:SLC2A5 semapv:UnspecifiedMatching -OMIM:138230 SLC2A5 skos:exactMatch ncbigene:6518 semapv:UnspecifiedMatching -OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:4581 semapv:UnspecifiedMatching -OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:GRIK3 semapv:UnspecifiedMatching -OMIM:138243 GRIK3 skos:exactMatch ncbigene:2899 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch UMLS:C1415294 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:4580 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:GRIK2 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch ncbigene:2898 semapv:UnspecifiedMatching -OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:4579 semapv:UnspecifiedMatching -OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:GRIK1 semapv:UnspecifiedMatching -OMIM:138245 GRIK1 skos:exactMatch ncbigene:2897 semapv:UnspecifiedMatching -OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:4574 semapv:UnspecifiedMatching -OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:GRIA4 semapv:UnspecifiedMatching -OMIM:138246 GRIA4 skos:exactMatch ncbigene:2893 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch UMLS:C1415288 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:4572 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:GRIA2 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch ncbigene:2891 semapv:UnspecifiedMatching -OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:4571 semapv:UnspecifiedMatching -OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:GRIA1 semapv:UnspecifiedMatching -OMIM:138248 GRIA1 skos:exactMatch ncbigene:2890 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C1415298 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693959 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693960 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693961 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693962 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693963 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693964 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693965 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:4584 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:GRIN1 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch ncbigene:2902 semapv:UnspecifiedMatching -OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:9722 semapv:UnspecifiedMatching -OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:ALDH18A1 semapv:UnspecifiedMatching -OMIM:138250 ALDH18A1 skos:exactMatch ncbigene:5832 semapv:UnspecifiedMatching -OMIM:138251 GRINA skos:exactMatch hgnc.symbol:4589 semapv:UnspecifiedMatching -OMIM:138251 GRINA skos:exactMatch hgnc.symbol:GRINA semapv:UnspecifiedMatching -OMIM:138251 GRINA skos:exactMatch ncbigene:2907 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch UMLS:C1415300 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch UMLS:C4540533 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:4586 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:GRIN2B semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch ncbigene:2904 semapv:UnspecifiedMatching -OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:4585 semapv:UnspecifiedMatching -OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:GRIN2A semapv:UnspecifiedMatching -OMIM:138253 GRIN2A skos:exactMatch ncbigene:2903 semapv:UnspecifiedMatching -OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:4587 semapv:UnspecifiedMatching -OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:GRIN2C semapv:UnspecifiedMatching -OMIM:138254 GRIN2C skos:exactMatch ncbigene:2905 semapv:UnspecifiedMatching -OMIM:138275 GAD2 skos:exactMatch UMLS:C1414926 semapv:UnspecifiedMatching -OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:4093 semapv:UnspecifiedMatching -OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:GAD2 semapv:UnspecifiedMatching -OMIM:138275 GAD2 skos:exactMatch ncbigene:2572 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C1415112 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch UMLS:C5193080 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch hgnc.symbol:4331 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch hgnc.symbol:GLS semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch ncbigene:2744 semapv:UnspecifiedMatching -OMIM:138290 GLUL skos:exactMatch hgnc.symbol:4341 semapv:UnspecifiedMatching -OMIM:138290 GLUL skos:exactMatch hgnc.symbol:GLUL semapv:UnspecifiedMatching -OMIM:138290 GLUL skos:exactMatch ncbigene:2752 semapv:UnspecifiedMatching -OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:4241 semapv:UnspecifiedMatching -OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:GFPT1 semapv:UnspecifiedMatching -OMIM:138292 GFPT1 skos:exactMatch ncbigene:2673 semapv:UnspecifiedMatching -OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:3418 semapv:UnspecifiedMatching -OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:EPRS1 semapv:UnspecifiedMatching -OMIM:138295 EPRS1 skos:exactMatch ncbigene:2058 semapv:UnspecifiedMatching -OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:3355 semapv:UnspecifiedMatching -OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:ENPEP semapv:UnspecifiedMatching -OMIM:138297 ENPEP skos:exactMatch ncbigene:2028 semapv:UnspecifiedMatching -OMIM:138300 GSR skos:exactMatch hgnc.symbol:4623 semapv:UnspecifiedMatching -OMIM:138300 GSR skos:exactMatch hgnc.symbol:GSR semapv:UnspecifiedMatching -OMIM:138300 GSR skos:exactMatch ncbigene:2936 semapv:UnspecifiedMatching -OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:4554 semapv:UnspecifiedMatching -OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:GPX2 semapv:UnspecifiedMatching -OMIM:138319 GPX2 skos:exactMatch ncbigene:2877 semapv:UnspecifiedMatching -OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:4553 semapv:UnspecifiedMatching -OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:GPX1 semapv:UnspecifiedMatching -OMIM:138320 GPX1 skos:exactMatch ncbigene:2876 semapv:UnspecifiedMatching -OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:4555 semapv:UnspecifiedMatching -OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:GPX3 semapv:UnspecifiedMatching -OMIM:138321 GPX3 skos:exactMatch ncbigene:2878 semapv:UnspecifiedMatching -OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:4556 semapv:UnspecifiedMatching -OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:GPX4 semapv:UnspecifiedMatching -OMIM:138322 GPX4 skos:exactMatch ncbigene:2879 semapv:UnspecifiedMatching -OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:7061 semapv:UnspecifiedMatching -OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:MGST1 semapv:UnspecifiedMatching -OMIM:138330 MGST1 skos:exactMatch ncbigene:4257 semapv:UnspecifiedMatching -OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:4636 semapv:UnspecifiedMatching -OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:GSTM4 semapv:UnspecifiedMatching -OMIM:138333 GSTM4 skos:exactMatch ncbigene:2948 semapv:UnspecifiedMatching -OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:4632 semapv:UnspecifiedMatching -OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:GSTM1 semapv:UnspecifiedMatching -OMIM:138350 GSTM1 skos:exactMatch ncbigene:2944 semapv:UnspecifiedMatching -OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:4626 semapv:UnspecifiedMatching -OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:GSTA1 semapv:UnspecifiedMatching -OMIM:138359 GSTA1 skos:exactMatch ncbigene:2938 semapv:UnspecifiedMatching -OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:4627 semapv:UnspecifiedMatching -OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:GSTA2 semapv:UnspecifiedMatching -OMIM:138360 GSTA2 skos:exactMatch ncbigene:2939 semapv:UnspecifiedMatching -OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:4634 semapv:UnspecifiedMatching -OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:GSTM2 semapv:UnspecifiedMatching -OMIM:138380 GSTM2 skos:exactMatch ncbigene:2946 semapv:UnspecifiedMatching -OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:4637 semapv:UnspecifiedMatching -OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:GSTM5 semapv:UnspecifiedMatching -OMIM:138385 GSTM5 skos:exactMatch ncbigene:2949 semapv:UnspecifiedMatching -OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:4635 semapv:UnspecifiedMatching -OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:GSTM3 semapv:UnspecifiedMatching -OMIM:138390 GSTM3 skos:exactMatch ncbigene:2947 semapv:UnspecifiedMatching -OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:4141 semapv:UnspecifiedMatching -OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:GAPDH semapv:UnspecifiedMatching -OMIM:138400 GAPDH skos:exactMatch ncbigene:2597 semapv:UnspecifiedMatching -OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:4455 semapv:UnspecifiedMatching -OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:GPD1 semapv:UnspecifiedMatching -OMIM:138420 GPD1 skos:exactMatch ncbigene:2819 semapv:UnspecifiedMatching -OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:4456 semapv:UnspecifiedMatching -OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:GPD2 semapv:UnspecifiedMatching -OMIM:138430 GPD2 skos:exactMatch ncbigene:2820 semapv:UnspecifiedMatching -OMIM:138440 GART skos:exactMatch hgnc.symbol:4163 semapv:UnspecifiedMatching -OMIM:138440 GART skos:exactMatch hgnc.symbol:GART semapv:UnspecifiedMatching -OMIM:138440 GART skos:exactMatch ncbigene:2618 semapv:UnspecifiedMatching -OMIM:138450 SHMT2 skos:exactMatch UMLS:C1420040 semapv:UnspecifiedMatching -OMIM:138450 SHMT2 skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching -OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:10852 semapv:UnspecifiedMatching -OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:SHMT2 semapv:UnspecifiedMatching -OMIM:138450 SHMT2 skos:exactMatch ncbigene:6472 semapv:UnspecifiedMatching -OMIM:138470 CFB skos:exactMatch hgnc.symbol:1037 semapv:UnspecifiedMatching -OMIM:138470 CFB skos:exactMatch hgnc.symbol:CFB semapv:UnspecifiedMatching -OMIM:138470 CFB skos:exactMatch ncbigene:629 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch UMLS:C1822742 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:29683 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:SLC25A32 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch ncbigene:81034 semapv:UnspecifiedMatching -OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:4326 semapv:UnspecifiedMatching -OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:GLRA1 semapv:UnspecifiedMatching -OMIM:138491 GLRA1 skos:exactMatch ncbigene:2741 semapv:UnspecifiedMatching -OMIM:138492 GLRB skos:exactMatch hgnc.symbol:4329 semapv:UnspecifiedMatching -OMIM:138492 GLRB skos:exactMatch hgnc.symbol:GLRB semapv:UnspecifiedMatching -OMIM:138492 GLRB skos:exactMatch ncbigene:2743 semapv:UnspecifiedMatching -OMIM:138550 PYGB skos:exactMatch hgnc.symbol:9723 semapv:UnspecifiedMatching -OMIM:138550 PYGB skos:exactMatch hgnc.symbol:PYGB semapv:UnspecifiedMatching -OMIM:138550 PYGB skos:exactMatch ncbigene:5834 semapv:UnspecifiedMatching -OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:4706 semapv:UnspecifiedMatching -OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:GYS1 semapv:UnspecifiedMatching -OMIM:138570 GYS1 skos:exactMatch ncbigene:2997 semapv:UnspecifiedMatching -OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:4707 semapv:UnspecifiedMatching -OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:GYS2 semapv:UnspecifiedMatching -OMIM:138571 GYS2 skos:exactMatch ncbigene:2998 semapv:UnspecifiedMatching -OMIM:138590 GYPE skos:exactMatch hgnc.symbol:4705 semapv:UnspecifiedMatching -OMIM:138590 GYPE skos:exactMatch hgnc.symbol:GYPE semapv:UnspecifiedMatching -OMIM:138590 GYPE skos:exactMatch ncbigene:2996 semapv:UnspecifiedMatching -OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:8498 semapv:UnspecifiedMatching -OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:ORM1 semapv:UnspecifiedMatching -OMIM:138600 ORM1 skos:exactMatch ncbigene:5004 semapv:UnspecifiedMatching -OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:8499 semapv:UnspecifiedMatching -OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:ORM2 semapv:UnspecifiedMatching -OMIM:138610 ORM2 skos:exactMatch ncbigene:5005 semapv:UnspecifiedMatching -OMIM:138670 A1BG skos:exactMatch hgnc.symbol:5 semapv:UnspecifiedMatching -OMIM:138670 A1BG skos:exactMatch hgnc.symbol:A1BG semapv:UnspecifiedMatching -OMIM:138670 A1BG skos:exactMatch ncbigene:1 semapv:UnspecifiedMatching -OMIM:138680 AHSG skos:exactMatch hgnc.symbol:349 semapv:UnspecifiedMatching -OMIM:138680 AHSG skos:exactMatch hgnc.symbol:AHSG semapv:UnspecifiedMatching -OMIM:138680 AHSG skos:exactMatch ncbigene:197 semapv:UnspecifiedMatching -OMIM:138700 APOH skos:exactMatch hgnc.symbol:616 semapv:UnspecifiedMatching -OMIM:138700 APOH skos:exactMatch hgnc.symbol:APOH semapv:UnspecifiedMatching -OMIM:138700 APOH skos:exactMatch ncbigene:350 semapv:UnspecifiedMatching -OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:4440 semapv:UnspecifiedMatching -OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:GP1BB semapv:UnspecifiedMatching -OMIM:138720 GP1BB skos:exactMatch ncbigene:2812 semapv:UnspecifiedMatching -OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:4323 semapv:UnspecifiedMatching -OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:GLO1 semapv:UnspecifiedMatching -OMIM:138750 GLO1 skos:exactMatch ncbigene:2739 semapv:UnspecifiedMatching -OMIM:138760 HAGH skos:exactMatch hgnc.symbol:4805 semapv:UnspecifiedMatching -OMIM:138760 HAGH skos:exactMatch hgnc.symbol:HAGH semapv:UnspecifiedMatching -OMIM:138760 HAGH skos:exactMatch ncbigene:3029 semapv:UnspecifiedMatching -OMIM:138770 gms syndrome skos:exactMatch Orphanet:2090 semapv:UnspecifiedMatching -OMIM:138770 gms syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching -OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:4421 semapv:UnspecifiedMatching -OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:GNRHR semapv:UnspecifiedMatching -OMIM:138850 GNRHR skos:exactMatch ncbigene:2798 semapv:UnspecifiedMatching -OMIM:138890 GSC skos:exactMatch hgnc.symbol:4612 semapv:UnspecifiedMatching -OMIM:138890 GSC skos:exactMatch hgnc.symbol:GSC semapv:UnspecifiedMatching -OMIM:138890 GSC skos:exactMatch ncbigene:145258 semapv:UnspecifiedMatching -OMIM:138900 uric acid concentration, serum, quantitative trait locus 1 skos:exactMatch UMLS:C1841837 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C0282513 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C1415311 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C3539123 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch UMLS:C4016134 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch hgnc.symbol:4601 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch hgnc.symbol:GRN semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch ncbigene:2896 semapv:UnspecifiedMatching -OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:2434 semapv:UnspecifiedMatching -OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:CSF2 semapv:UnspecifiedMatching -OMIM:138960 CSF2 skos:exactMatch ncbigene:1437 semapv:UnspecifiedMatching -OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:10643 semapv:UnspecifiedMatching -OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:CXCL6 semapv:UnspecifiedMatching -OMIM:138965 CXCL6 skos:exactMatch ncbigene:6372 semapv:UnspecifiedMatching -OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:2438 semapv:UnspecifiedMatching -OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:CSF3 semapv:UnspecifiedMatching -OMIM:138970 CSF3 skos:exactMatch ncbigene:1440 semapv:UnspecifiedMatching -OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:2439 semapv:UnspecifiedMatching -OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:CSF3R semapv:UnspecifiedMatching -OMIM:138971 CSF3R skos:exactMatch ncbigene:1441 semapv:UnspecifiedMatching -OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:1837 semapv:UnspecifiedMatching -OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:CEBPG semapv:UnspecifiedMatching -OMIM:138972 CEBPG skos:exactMatch ncbigene:1054 semapv:UnspecifiedMatching -OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:2436 semapv:UnspecifiedMatching -OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:CSF2RB semapv:UnspecifiedMatching -OMIM:138981 CSF2RB skos:exactMatch ncbigene:1439 semapv:UnspecifiedMatching -OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:10986 semapv:UnspecifiedMatching -OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:SLC25A16 semapv:UnspecifiedMatching -OMIM:139080 SLC25A16 skos:exactMatch ncbigene:8034 semapv:UnspecifiedMatching -OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:4603 semapv:UnspecifiedMatching -OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:CXCL2 semapv:UnspecifiedMatching -OMIM:139110 CXCL2 skos:exactMatch ncbigene:2920 semapv:UnspecifiedMatching -OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:4604 semapv:UnspecifiedMatching -OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:CXCL3 semapv:UnspecifiedMatching -OMIM:139111 CXCL3 skos:exactMatch ncbigene:2921 semapv:UnspecifiedMatching -OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:4400 semapv:UnspecifiedMatching -OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:GNB3 semapv:UnspecifiedMatching -OMIM:139130 GNB3 skos:exactMatch ncbigene:2784 semapv:UnspecifiedMatching -OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:7980 semapv:UnspecifiedMatching -OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:NR4A1 semapv:UnspecifiedMatching -OMIM:139139 NR4A1 skos:exactMatch ncbigene:3164 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch UMLS:C1419277 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch UMLS:C4747394 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:9871 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:RASA1 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch ncbigene:5921 semapv:UnspecifiedMatching -OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:4395 semapv:UnspecifiedMatching -OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:GNAZ semapv:UnspecifiedMatching -OMIM:139160 GNAZ skos:exactMatch ncbigene:2781 semapv:UnspecifiedMatching -OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:4386 semapv:UnspecifiedMatching -OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:GNAI2P1 semapv:UnspecifiedMatching -OMIM:139180 GNAI2P1 skos:exactMatch ncbigene:2772 semapv:UnspecifiedMatching -OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:4165 semapv:UnspecifiedMatching -OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:GAS1 semapv:UnspecifiedMatching -OMIM:139185 GAS1 skos:exactMatch ncbigene:2619 semapv:UnspecifiedMatching -OMIM:139190 GHRH skos:exactMatch hgnc.symbol:4265 semapv:UnspecifiedMatching -OMIM:139190 GHRH skos:exactMatch hgnc.symbol:GHRH semapv:UnspecifiedMatching -OMIM:139190 GHRH skos:exactMatch ncbigene:2691 semapv:UnspecifiedMatching -OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:4266 semapv:UnspecifiedMatching -OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:GHRHR semapv:UnspecifiedMatching -OMIM:139191 GHRHR skos:exactMatch ncbigene:2692 semapv:UnspecifiedMatching -OMIM:139200 GC skos:exactMatch hgnc.symbol:4187 semapv:UnspecifiedMatching -OMIM:139200 GC skos:exactMatch hgnc.symbol:GC semapv:UnspecifiedMatching -OMIM:139200 GC skos:exactMatch ncbigene:2638 semapv:UnspecifiedMatching -OMIM:139210 myhre syndrome skos:exactMatch Orphanet:2588 semapv:UnspecifiedMatching -OMIM:139210 myhre syndrome skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching -OMIM:139240 GH2 skos:exactMatch hgnc.symbol:4262 semapv:UnspecifiedMatching -OMIM:139240 GH2 skos:exactMatch hgnc.symbol:GH2 semapv:UnspecifiedMatching -OMIM:139240 GH2 skos:exactMatch ncbigene:2689 semapv:UnspecifiedMatching -OMIM:139250 GH1 skos:exactMatch hgnc.symbol:4261 semapv:UnspecifiedMatching -OMIM:139250 GH1 skos:exactMatch hgnc.symbol:GH1 semapv:UnspecifiedMatching -OMIM:139250 GH1 skos:exactMatch ncbigene:2688 semapv:UnspecifiedMatching -OMIM:139255 MT3 skos:exactMatch hgnc.symbol:7408 semapv:UnspecifiedMatching -OMIM:139255 MT3 skos:exactMatch hgnc.symbol:MT3 semapv:UnspecifiedMatching -OMIM:139255 MT3 skos:exactMatch ncbigene:4504 semapv:UnspecifiedMatching -OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:4621 semapv:UnspecifiedMatching -OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:GSPT1 semapv:UnspecifiedMatching -OMIM:139259 GSPT1 skos:exactMatch ncbigene:2935 semapv:UnspecifiedMatching -OMIM:139260 GDA skos:exactMatch hgnc.symbol:4212 semapv:UnspecifiedMatching -OMIM:139260 GDA skos:exactMatch hgnc.symbol:GDA semapv:UnspecifiedMatching -OMIM:139260 GDA skos:exactMatch ncbigene:9615 semapv:UnspecifiedMatching -OMIM:139265 GMPR skos:exactMatch UMLS:C1415135 semapv:UnspecifiedMatching -OMIM:139265 GMPR skos:exactMatch UMLS:C4016138 semapv:UnspecifiedMatching -OMIM:139265 GMPR skos:exactMatch hgnc.symbol:4376 semapv:UnspecifiedMatching -OMIM:139265 GMPR skos:exactMatch hgnc.symbol:GMPR semapv:UnspecifiedMatching -OMIM:139265 GMPR skos:exactMatch ncbigene:2766 semapv:UnspecifiedMatching -OMIM:139270 GUK1 skos:exactMatch hgnc.symbol:4693 semapv:UnspecifiedMatching -OMIM:139270 GUK1 skos:exactMatch hgnc.symbol:GUK1 semapv:UnspecifiedMatching -OMIM:139270 GUK1 skos:exactMatch ncbigene:2987 semapv:UnspecifiedMatching -OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc.symbol:4694 semapv:UnspecifiedMatching -OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc.symbol:GUK2 semapv:UnspecifiedMatching -OMIM:139310 GNAI1 skos:exactMatch hgnc.symbol:4384 semapv:UnspecifiedMatching -OMIM:139310 GNAI1 skos:exactMatch hgnc.symbol:GNAI1 semapv:UnspecifiedMatching -OMIM:139310 GNAI1 skos:exactMatch ncbigene:2770 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch UMLS:C1415146 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch hgnc.symbol:4389 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch hgnc.symbol:GNAO1 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch ncbigene:2775 semapv:UnspecifiedMatching -OMIM:139312 GNAL skos:exactMatch hgnc.symbol:4388 semapv:UnspecifiedMatching -OMIM:139312 GNAL skos:exactMatch hgnc.symbol:GNAL semapv:UnspecifiedMatching -OMIM:139312 GNAL skos:exactMatch ncbigene:2774 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch UMLS:C1415138 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch UMLS:C3809243 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:4379 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:GNA11 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch ncbigene:2767 semapv:UnspecifiedMatching -OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:4383 semapv:UnspecifiedMatching -OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:GNA15 semapv:UnspecifiedMatching -OMIM:139314 GNA15 skos:exactMatch ncbigene:2769 semapv:UnspecifiedMatching -OMIM:139320 GNAS skos:exactMatch hgnc.symbol:4392 semapv:UnspecifiedMatching -OMIM:139320 GNAS skos:exactMatch hgnc.symbol:GNAS semapv:UnspecifiedMatching -OMIM:139320 GNAS skos:exactMatch ncbigene:2778 semapv:UnspecifiedMatching -OMIM:139330 GNAT1 skos:exactMatch hgnc.symbol:4393 semapv:UnspecifiedMatching -OMIM:139330 GNAT1 skos:exactMatch hgnc.symbol:GNAT1 semapv:UnspecifiedMatching -OMIM:139330 GNAT1 skos:exactMatch ncbigene:2779 semapv:UnspecifiedMatching -OMIM:139340 GNAT2 skos:exactMatch hgnc.symbol:4394 semapv:UnspecifiedMatching -OMIM:139340 GNAT2 skos:exactMatch hgnc.symbol:GNAT2 semapv:UnspecifiedMatching -OMIM:139340 GNAT2 skos:exactMatch ncbigene:2780 semapv:UnspecifiedMatching -OMIM:139350 KRT1 skos:exactMatch hgnc.symbol:6412 semapv:UnspecifiedMatching -OMIM:139350 KRT1 skos:exactMatch hgnc.symbol:KRT1 semapv:UnspecifiedMatching -OMIM:139350 KRT1 skos:exactMatch ncbigene:3848 semapv:UnspecifiedMatching -OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:4385 semapv:UnspecifiedMatching -OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:GNAI2 semapv:UnspecifiedMatching -OMIM:139360 GNAI2 skos:exactMatch ncbigene:2771 semapv:UnspecifiedMatching -OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:4387 semapv:UnspecifiedMatching -OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:GNAI3 semapv:UnspecifiedMatching -OMIM:139370 GNAI3 skos:exactMatch ncbigene:2773 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch UMLS:C1333687 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch UMLS:C4016619 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch UMLS:C4310774 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch UMLS:C4310990 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:4396 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:GNB1 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch ncbigene:2782 semapv:UnspecifiedMatching -OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:4398 semapv:UnspecifiedMatching -OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:GNB2 semapv:UnspecifiedMatching -OMIM:139390 GNB2 skos:exactMatch ncbigene:2783 semapv:UnspecifiedMatching -OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:4412 semapv:UnspecifiedMatching -OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:GNGT2 semapv:UnspecifiedMatching -OMIM:139391 GNGT2 skos:exactMatch ncbigene:2793 semapv:UnspecifiedMatching -OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:4682 semapv:UnspecifiedMatching -OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:GUCA2A semapv:UnspecifiedMatching -OMIM:139392 GUCA2A skos:exactMatch ncbigene:2980 semapv:UnspecifiedMatching -OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:22800 semapv:UnspecifiedMatching -OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:GNAT3 semapv:UnspecifiedMatching -OMIM:139395 GNAT3 skos:exactMatch ncbigene:346562 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:4685 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:GUCY1A1 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch ncbigene:2982 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:4687 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch ncbigene:2983 semapv:UnspecifiedMatching -OMIM:139605 HES1 skos:exactMatch UMLS:C1415725 semapv:UnspecifiedMatching -OMIM:139605 HES1 skos:exactMatch hgnc.symbol:5192 semapv:UnspecifiedMatching -OMIM:139605 HES1 skos:exactMatch hgnc.symbol:HES1 semapv:UnspecifiedMatching -OMIM:139605 HES1 skos:exactMatch ncbigene:3280 semapv:UnspecifiedMatching -OMIM:140000 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching -OMIM:140000 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching -OMIM:140050 GZMA skos:exactMatch UMLS:C1415379 semapv:UnspecifiedMatching -OMIM:140050 GZMA skos:exactMatch hgnc.symbol:4708 semapv:UnspecifiedMatching -OMIM:140050 GZMA skos:exactMatch hgnc.symbol:GZMA semapv:UnspecifiedMatching -OMIM:140050 GZMA skos:exactMatch ncbigene:3001 semapv:UnspecifiedMatching -OMIM:140100 HP skos:exactMatch hgnc.symbol:5141 semapv:UnspecifiedMatching -OMIM:140100 HP skos:exactMatch hgnc.symbol:HP semapv:UnspecifiedMatching -OMIM:140100 HP skos:exactMatch ncbigene:3240 semapv:UnspecifiedMatching -OMIM:140210 HPR skos:exactMatch hgnc.symbol:5156 semapv:UnspecifiedMatching -OMIM:140210 HPR skos:exactMatch hgnc.symbol:HPR semapv:UnspecifiedMatching -OMIM:140210 HPR skos:exactMatch ncbigene:3250 semapv:UnspecifiedMatching -OMIM:140350 hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching -OMIM:140350 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching -OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:5232 semapv:UnspecifiedMatching -OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:HSPA1A semapv:UnspecifiedMatching -OMIM:140550 HSPA1A skos:exactMatch ncbigene:3303 semapv:UnspecifiedMatching -OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:5239 semapv:UnspecifiedMatching -OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:HSPA6 semapv:UnspecifiedMatching -OMIM:140555 HSPA6 skos:exactMatch ncbigene:3310 semapv:UnspecifiedMatching -OMIM:140556 HSPA7 skos:exactMatch UMLS:C1415763 semapv:UnspecifiedMatching -OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:5240 semapv:UnspecifiedMatching -OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:HSPA7 semapv:UnspecifiedMatching -OMIM:140556 HSPA7 skos:exactMatch ncbigene:3311 semapv:UnspecifiedMatching -OMIM:140559 HSPA1L skos:exactMatch UMLS:C1415757 semapv:UnspecifiedMatching -OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:5234 semapv:UnspecifiedMatching -OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:HSPA1L semapv:UnspecifiedMatching -OMIM:140559 HSPA1L skos:exactMatch ncbigene:3305 semapv:UnspecifiedMatching -OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:5235 semapv:UnspecifiedMatching -OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:HSPA2 semapv:UnspecifiedMatching -OMIM:140560 HSPA2 skos:exactMatch ncbigene:3306 semapv:UnspecifiedMatching -OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:5253 semapv:UnspecifiedMatching -OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:HSP90AA1 semapv:UnspecifiedMatching -OMIM:140571 HSP90AA1 skos:exactMatch ncbigene:3320 semapv:UnspecifiedMatching -OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:5258 semapv:UnspecifiedMatching -OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:HSP90AB1 semapv:UnspecifiedMatching -OMIM:140572 HSP90AB1 skos:exactMatch ncbigene:3326 semapv:UnspecifiedMatching -OMIM:140575 HSP90AA2P skos:exactMatch hgnc.symbol:5256 semapv:UnspecifiedMatching -OMIM:140575 HSP90AA2P skos:exactMatch hgnc.symbol:HSP90AA2P semapv:UnspecifiedMatching -OMIM:140575 HSP90AA2P skos:exactMatch ncbigene:3324 semapv:UnspecifiedMatching -OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:5224 semapv:UnspecifiedMatching -OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:HSF1 semapv:UnspecifiedMatching -OMIM:140580 HSF1 skos:exactMatch ncbigene:3297 semapv:UnspecifiedMatching -OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:5225 semapv:UnspecifiedMatching -OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:HSF2 semapv:UnspecifiedMatching -OMIM:140581 HSF2 skos:exactMatch ncbigene:3298 semapv:UnspecifiedMatching -OMIM:140750 ST5 skos:exactMatch hgnc.symbol:11350 semapv:UnspecifiedMatching -OMIM:140750 ST5 skos:exactMatch hgnc.symbol:DENND2B semapv:UnspecifiedMatching -OMIM:140750 ST5 skos:exactMatch ncbigene:6764 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch UMLS:C1826388 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:4862 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:NCKAP1L semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch ncbigene:3071 semapv:UnspecifiedMatching -OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:5013 semapv:UnspecifiedMatching -OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:HMOX1 semapv:UnspecifiedMatching -OMIM:141250 HMOX1 skos:exactMatch ncbigene:3162 semapv:UnspecifiedMatching -OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:5014 semapv:UnspecifiedMatching -OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:HMOX2 semapv:UnspecifiedMatching -OMIM:141251 HMOX2 skos:exactMatch ncbigene:3163 semapv:UnspecifiedMatching -OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching -OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching -OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:4823 semapv:UnspecifiedMatching -OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:HBA1 semapv:UnspecifiedMatching -OMIM:141800 HBA1 skos:exactMatch ncbigene:3039 semapv:UnspecifiedMatching -OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:4824 semapv:UnspecifiedMatching -OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:HBA2 semapv:UnspecifiedMatching -OMIM:141850 HBA2 skos:exactMatch ncbigene:3040 semapv:UnspecifiedMatching -OMIM:141900 HBB skos:exactMatch hgnc.symbol:4827 semapv:UnspecifiedMatching -OMIM:141900 HBB skos:exactMatch hgnc.symbol:HBB semapv:UnspecifiedMatching -OMIM:141900 HBB skos:exactMatch ncbigene:3043 semapv:UnspecifiedMatching -OMIM:142000 HBD skos:exactMatch hgnc.symbol:4829 semapv:UnspecifiedMatching -OMIM:142000 HBD skos:exactMatch hgnc.symbol:HBD semapv:UnspecifiedMatching -OMIM:142000 HBD skos:exactMatch ncbigene:3045 semapv:UnspecifiedMatching -OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:4830 semapv:UnspecifiedMatching -OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:HBE1 semapv:UnspecifiedMatching -OMIM:142100 HBE1 skos:exactMatch ncbigene:3046 semapv:UnspecifiedMatching -OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:4831 semapv:UnspecifiedMatching -OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:HBG1 semapv:UnspecifiedMatching -OMIM:142200 HBG1 skos:exactMatch ncbigene:3047 semapv:UnspecifiedMatching -OMIM:142210 HIST1H1D skos:exactMatch hgnc.symbol:4717 semapv:UnspecifiedMatching -OMIM:142210 HIST1H1D skos:exactMatch hgnc.symbol:H1-3 semapv:UnspecifiedMatching -OMIM:142210 HIST1H1D skos:exactMatch ncbigene:3007 semapv:UnspecifiedMatching -OMIM:142220 HIST1H1E skos:exactMatch hgnc.symbol:4718 semapv:UnspecifiedMatching -OMIM:142220 HIST1H1E skos:exactMatch hgnc.symbol:H1-4 semapv:UnspecifiedMatching -OMIM:142220 HIST1H1E skos:exactMatch ncbigene:3008 semapv:UnspecifiedMatching -OMIM:142230 CD34 skos:exactMatch hgnc.symbol:1662 semapv:UnspecifiedMatching -OMIM:142230 CD34 skos:exactMatch hgnc.symbol:CD34 semapv:UnspecifiedMatching -OMIM:142230 CD34 skos:exactMatch ncbigene:947 semapv:UnspecifiedMatching -OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:4833 semapv:UnspecifiedMatching -OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:HBQ1 semapv:UnspecifiedMatching -OMIM:142240 HBQ1 skos:exactMatch ncbigene:3049 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C0019025 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C1415486 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3151421 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891080 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891081 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891082 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891083 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891084 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891085 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891086 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891087 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891088 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891089 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891090 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891091 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891092 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891093 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891094 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891095 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891096 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891097 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891098 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891099 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891100 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891101 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C3891102 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016200 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016201 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016202 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016203 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4016204 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285097 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285103 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285104 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285105 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285224 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285225 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285226 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285227 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285228 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285229 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4285230 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch UMLS:C4310970 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:4832 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:HBG2 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch ncbigene:3048 semapv:UnspecifiedMatching -OMIM:142290 HPX skos:exactMatch hgnc.symbol:5171 semapv:UnspecifiedMatching -OMIM:142290 HPX skos:exactMatch hgnc.symbol:HPX semapv:UnspecifiedMatching -OMIM:142290 HPX skos:exactMatch ncbigene:3263 semapv:UnspecifiedMatching -OMIM:142310 HBZ skos:exactMatch hgnc.symbol:4835 semapv:UnspecifiedMatching -OMIM:142310 HBZ skos:exactMatch hgnc.symbol:HBZ semapv:UnspecifiedMatching -OMIM:142310 HBZ skos:exactMatch ncbigene:3050 semapv:UnspecifiedMatching -OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:4838 semapv:UnspecifiedMatching -OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:SERPIND1 semapv:UnspecifiedMatching -OMIM:142360 HCF2 skos:exactMatch ncbigene:3053 semapv:UnspecifiedMatching -OMIM:142370 HCK skos:exactMatch hgnc.symbol:4840 semapv:UnspecifiedMatching -OMIM:142370 HCK skos:exactMatch hgnc.symbol:HCK semapv:UnspecifiedMatching -OMIM:142370 HCK skos:exactMatch ncbigene:3055 semapv:UnspecifiedMatching -OMIM:142385 HLF skos:exactMatch hgnc.symbol:4977 semapv:UnspecifiedMatching -OMIM:142385 HLF skos:exactMatch hgnc.symbol:HLF semapv:UnspecifiedMatching -OMIM:142385 HLF skos:exactMatch ncbigene:3131 semapv:UnspecifiedMatching -OMIM:142408 MST1 skos:exactMatch hgnc.symbol:7380 semapv:UnspecifiedMatching -OMIM:142408 MST1 skos:exactMatch hgnc.symbol:MST1 semapv:UnspecifiedMatching -OMIM:142408 MST1 skos:exactMatch ncbigene:4485 semapv:UnspecifiedMatching -OMIM:142409 HGF skos:exactMatch hgnc.symbol:4893 semapv:UnspecifiedMatching -OMIM:142409 HGF skos:exactMatch hgnc.symbol:HGF semapv:UnspecifiedMatching -OMIM:142409 HGF skos:exactMatch ncbigene:3082 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1266042 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1420631 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1838100 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1840623 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C3276902 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:11621 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:HNF1A semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch ncbigene:6927 semapv:UnspecifiedMatching -OMIM:142440 HPN skos:exactMatch hgnc.symbol:5155 semapv:UnspecifiedMatching -OMIM:142440 HPN skos:exactMatch hgnc.symbol:HPN semapv:UnspecifiedMatching -OMIM:142440 HPN skos:exactMatch ncbigene:3249 semapv:UnspecifiedMatching -OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:7997 semapv:UnspecifiedMatching -OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:NRG1 semapv:UnspecifiedMatching -OMIM:142445 NRG1 skos:exactMatch ncbigene:3084 semapv:UnspecifiedMatching -OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:10659 semapv:UnspecifiedMatching -OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:SDC2 semapv:UnspecifiedMatching -OMIM:142460 SDC2 skos:exactMatch ncbigene:6383 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch UMLS:C1415793 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch UMLS:C4551479 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:5273 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:HSPG2 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch ncbigene:3339 semapv:UnspecifiedMatching -OMIM:142560 DDX39B skos:exactMatch UMLS:C1422269 semapv:UnspecifiedMatching -OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:13917 semapv:UnspecifiedMatching -OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:DDX39B semapv:UnspecifiedMatching -OMIM:142560 DDX39B skos:exactMatch ncbigene:7919 semapv:UnspecifiedMatching -OMIM:142570 HK3 skos:exactMatch hgnc.symbol:4925 semapv:UnspecifiedMatching -OMIM:142570 HK3 skos:exactMatch hgnc.symbol:HK3 semapv:UnspecifiedMatching -OMIM:142570 HK3 skos:exactMatch ncbigene:3101 semapv:UnspecifiedMatching -OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:13918 semapv:UnspecifiedMatching -OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:PRRC2A semapv:UnspecifiedMatching -OMIM:142580 PRRC2A skos:exactMatch ncbigene:7916 semapv:UnspecifiedMatching -OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:13919 semapv:UnspecifiedMatching -OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:BAG6 semapv:UnspecifiedMatching -OMIM:142590 BAG6 skos:exactMatch ncbigene:7917 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C1415554 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C3150343 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C4479526 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch UMLS:C5231404 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch hgnc.symbol:4922 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch hgnc.symbol:HK1 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch ncbigene:3098 semapv:UnspecifiedMatching -OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:13920 semapv:UnspecifiedMatching -OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:GPANK1 semapv:UnspecifiedMatching -OMIM:142610 GPANK1 skos:exactMatch ncbigene:7918 semapv:UnspecifiedMatching -OMIM:142620 ABHD16A skos:exactMatch UMLS:C1422273 semapv:UnspecifiedMatching -OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:13921 semapv:UnspecifiedMatching -OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:ABHD16A semapv:UnspecifiedMatching -OMIM:142620 ABHD16A skos:exactMatch ncbigene:7920 semapv:UnspecifiedMatching -OMIM:142622 HPCA skos:exactMatch hgnc.symbol:5144 semapv:UnspecifiedMatching -OMIM:142622 HPCA skos:exactMatch hgnc.symbol:HPCA semapv:UnspecifiedMatching -OMIM:142622 HPCA skos:exactMatch ncbigene:3208 semapv:UnspecifiedMatching -OMIM:142640 HRG skos:exactMatch hgnc.symbol:5181 semapv:UnspecifiedMatching -OMIM:142640 HRG skos:exactMatch hgnc.symbol:HRG semapv:UnspecifiedMatching -OMIM:142640 HRG skos:exactMatch ncbigene:3273 semapv:UnspecifiedMatching -OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch Orphanet:32960 semapv:UnspecifiedMatching -OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching -OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:4857 semapv:UnspecifiedMatching -OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:HDLBP semapv:UnspecifiedMatching -OMIM:142695 HDLBP skos:exactMatch ncbigene:3069 semapv:UnspecifiedMatching -OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:5283 semapv:UnspecifiedMatching -OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:HTN1 semapv:UnspecifiedMatching -OMIM:142701 HTN1 skos:exactMatch ncbigene:3346 semapv:UnspecifiedMatching -OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:5284 semapv:UnspecifiedMatching -OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:HTN3 semapv:UnspecifiedMatching -OMIM:142702 HTN3 skos:exactMatch ncbigene:3347 semapv:UnspecifiedMatching -OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:5183 semapv:UnspecifiedMatching -OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:HRH2 semapv:UnspecifiedMatching -OMIM:142703 HRH2 skos:exactMatch ncbigene:3274 semapv:UnspecifiedMatching -OMIM:142704 HDC skos:exactMatch hgnc.symbol:4855 semapv:UnspecifiedMatching -OMIM:142704 HDC skos:exactMatch hgnc.symbol:HDC semapv:UnspecifiedMatching -OMIM:142704 HDC skos:exactMatch ncbigene:3067 semapv:UnspecifiedMatching -OMIM:142705 HRC skos:exactMatch hgnc.symbol:5178 semapv:UnspecifiedMatching -OMIM:142705 HRC skos:exactMatch hgnc.symbol:HRC semapv:UnspecifiedMatching -OMIM:142705 HRC skos:exactMatch ncbigene:3270 semapv:UnspecifiedMatching -OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:4714 semapv:UnspecifiedMatching -OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:H1-0 semapv:UnspecifiedMatching -OMIM:142708 H1F0 skos:exactMatch ncbigene:3005 semapv:UnspecifiedMatching -OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:4715 semapv:UnspecifiedMatching -OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:H1-1 semapv:UnspecifiedMatching -OMIM:142709 HIST1H1A skos:exactMatch ncbigene:3024 semapv:UnspecifiedMatching -OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:4716 semapv:UnspecifiedMatching -OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:H1-2 semapv:UnspecifiedMatching -OMIM:142710 HIST1H1C skos:exactMatch ncbigene:3006 semapv:UnspecifiedMatching -OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:4719 semapv:UnspecifiedMatching -OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:H1-5 semapv:UnspecifiedMatching -OMIM:142711 HIST1H1B skos:exactMatch ncbigene:3009 semapv:UnspecifiedMatching -OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:4720 semapv:UnspecifiedMatching -OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:H1-6 semapv:UnspecifiedMatching -OMIM:142712 HIST1H1T skos:exactMatch ncbigene:3010 semapv:UnspecifiedMatching -OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:4736 semapv:UnspecifiedMatching -OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:H2AC18 semapv:UnspecifiedMatching -OMIM:142720 HIST2H2AA3 skos:exactMatch ncbigene:8337 semapv:UnspecifiedMatching -OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:4794 semapv:UnspecifiedMatching -OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:H4C14 semapv:UnspecifiedMatching -OMIM:142750 H4C14 skos:exactMatch ncbigene:8370 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch UMLS:C1415408 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:4741 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:H2AZ1 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch ncbigene:3015 semapv:UnspecifiedMatching -OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:9983 semapv:UnspecifiedMatching -OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:RFX2 semapv:UnspecifiedMatching -OMIM:142765 RFX2 skos:exactMatch ncbigene:5990 semapv:UnspecifiedMatching -OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:20503 semapv:UnspecifiedMatching -OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:H3C14 semapv:UnspecifiedMatching -OMIM:142780 HIST2H3C skos:exactMatch ncbigene:126961 semapv:UnspecifiedMatching -OMIM:142790 CD74 skos:exactMatch hgnc.symbol:1697 semapv:UnspecifiedMatching -OMIM:142790 CD74 skos:exactMatch hgnc.symbol:CD74 semapv:UnspecifiedMatching -OMIM:142790 CD74 skos:exactMatch ncbigene:972 semapv:UnspecifiedMatching -OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:4931 semapv:UnspecifiedMatching -OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:HLA-A semapv:UnspecifiedMatching -OMIM:142800 HLA-A skos:exactMatch ncbigene:3105 semapv:UnspecifiedMatching -OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:4816 semapv:UnspecifiedMatching -OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:HARS1 semapv:UnspecifiedMatching -OMIM:142810 HARS1 skos:exactMatch ncbigene:3035 semapv:UnspecifiedMatching -OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:4932 semapv:UnspecifiedMatching -OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:HLA-B semapv:UnspecifiedMatching -OMIM:142830 HLA-B skos:exactMatch ncbigene:3106 semapv:UnspecifiedMatching -OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:4933 semapv:UnspecifiedMatching -OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:HLA-C semapv:UnspecifiedMatching -OMIM:142840 HLA-C skos:exactMatch ncbigene:3107 semapv:UnspecifiedMatching -OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:4934 semapv:UnspecifiedMatching -OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:HLA-DMA semapv:UnspecifiedMatching -OMIM:142855 HLA-DMA skos:exactMatch ncbigene:3108 semapv:UnspecifiedMatching -OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:4935 semapv:UnspecifiedMatching -OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:HLA-DMB semapv:UnspecifiedMatching -OMIM:142856 HLA-DMB skos:exactMatch ncbigene:3109 semapv:UnspecifiedMatching -OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:4948 semapv:UnspecifiedMatching -OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:HLA-DRB1 semapv:UnspecifiedMatching -OMIM:142857 HLA-DRB1 skos:exactMatch ncbigene:3123 semapv:UnspecifiedMatching -OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:4940 semapv:UnspecifiedMatching -OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:HLA-DPB1 semapv:UnspecifiedMatching -OMIM:142858 HLA-DPB1 skos:exactMatch ncbigene:3115 semapv:UnspecifiedMatching -OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:4947 semapv:UnspecifiedMatching -OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:HLA-DRA semapv:UnspecifiedMatching -OMIM:142860 HLA-DRA skos:exactMatch ncbigene:3122 semapv:UnspecifiedMatching -OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:4964 semapv:UnspecifiedMatching -OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:HLA-G semapv:UnspecifiedMatching -OMIM:142871 HLA-G skos:exactMatch ncbigene:3135 semapv:UnspecifiedMatching -OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:4938 semapv:UnspecifiedMatching -OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:HLA-DPA1 semapv:UnspecifiedMatching -OMIM:142880 HLA-DPA1 skos:exactMatch ncbigene:3113 semapv:UnspecifiedMatching -OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:5006 semapv:UnspecifiedMatching -OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:HMGCR semapv:UnspecifiedMatching -OMIM:142910 HMGCR skos:exactMatch ncbigene:3156 semapv:UnspecifiedMatching -OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:4936 semapv:UnspecifiedMatching -OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:HLA-DOA semapv:UnspecifiedMatching -OMIM:142930 HLA-DNA skos:exactMatch ncbigene:3111 semapv:UnspecifiedMatching -OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:5007 semapv:UnspecifiedMatching -OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:HMGCS1 semapv:UnspecifiedMatching -OMIM:142940 HMGCS1 skos:exactMatch ncbigene:3157 semapv:UnspecifiedMatching -OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:5108 semapv:UnspecifiedMatching -OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:HOXA7 semapv:UnspecifiedMatching -OMIM:142950 HOXA7 skos:exactMatch ncbigene:3204 semapv:UnspecifiedMatching -OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:5107 semapv:UnspecifiedMatching -OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:HOXA6 semapv:UnspecifiedMatching -OMIM:142951 HOXA6 skos:exactMatch ncbigene:3203 semapv:UnspecifiedMatching -OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:5106 semapv:UnspecifiedMatching -OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:HOXA5 semapv:UnspecifiedMatching -OMIM:142952 HOXA5 skos:exactMatch ncbigene:3202 semapv:UnspecifiedMatching -OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:5105 semapv:UnspecifiedMatching -OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:HOXA4 semapv:UnspecifiedMatching -OMIM:142953 HOXA4 skos:exactMatch ncbigene:3201 semapv:UnspecifiedMatching -OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:5104 semapv:UnspecifiedMatching -OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:HOXA3 semapv:UnspecifiedMatching -OMIM:142954 HOXA3 skos:exactMatch ncbigene:3200 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch UMLS:C1415653 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:5099 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:HOXA1 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch ncbigene:3198 semapv:UnspecifiedMatching -OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:5109 semapv:UnspecifiedMatching -OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:HOXA9 semapv:UnspecifiedMatching -OMIM:142956 HOXA9 skos:exactMatch ncbigene:3205 semapv:UnspecifiedMatching -OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:5100 semapv:UnspecifiedMatching -OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:HOXA10 semapv:UnspecifiedMatching -OMIM:142957 HOXA10 skos:exactMatch ncbigene:3206 semapv:UnspecifiedMatching -OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:5101 semapv:UnspecifiedMatching -OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:HOXA11 semapv:UnspecifiedMatching -OMIM:142958 HOXA11 skos:exactMatch ncbigene:3207 semapv:UnspecifiedMatching -OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:5102 semapv:UnspecifiedMatching -OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:HOXA13 semapv:UnspecifiedMatching -OMIM:142959 HOXA13 skos:exactMatch ncbigene:3209 semapv:UnspecifiedMatching -OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:5116 semapv:UnspecifiedMatching -OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:HOXB5 semapv:UnspecifiedMatching -OMIM:142960 HOXB5 skos:exactMatch ncbigene:3215 semapv:UnspecifiedMatching -OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:5117 semapv:UnspecifiedMatching -OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:HOXB6 semapv:UnspecifiedMatching -OMIM:142961 HOXB6 skos:exactMatch ncbigene:3216 semapv:UnspecifiedMatching -OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:5118 semapv:UnspecifiedMatching -OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:HOXB7 semapv:UnspecifiedMatching -OMIM:142962 HOXB7 skos:exactMatch ncbigene:3217 semapv:UnspecifiedMatching -OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:5119 semapv:UnspecifiedMatching -OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:HOXB8 semapv:UnspecifiedMatching -OMIM:142963 HOXB8 skos:exactMatch ncbigene:3218 semapv:UnspecifiedMatching -OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:5120 semapv:UnspecifiedMatching -OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:HOXB9 semapv:UnspecifiedMatching -OMIM:142964 HOXB9 skos:exactMatch ncbigene:3219 semapv:UnspecifiedMatching -OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:5115 semapv:UnspecifiedMatching -OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:HOXB4 semapv:UnspecifiedMatching -OMIM:142965 HOXB4 skos:exactMatch ncbigene:3214 semapv:UnspecifiedMatching -OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:5114 semapv:UnspecifiedMatching -OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:HOXB3 semapv:UnspecifiedMatching -OMIM:142966 HOXB3 skos:exactMatch ncbigene:3213 semapv:UnspecifiedMatching -OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:5113 semapv:UnspecifiedMatching -OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:HOXB2 semapv:UnspecifiedMatching -OMIM:142967 HOXB2 skos:exactMatch ncbigene:3212 semapv:UnspecifiedMatching -OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:5111 semapv:UnspecifiedMatching -OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:HOXB1 semapv:UnspecifiedMatching -OMIM:142968 HOXB1 skos:exactMatch ncbigene:3211 semapv:UnspecifiedMatching -OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:5129 semapv:UnspecifiedMatching -OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:HOXC8 semapv:UnspecifiedMatching -OMIM:142970 HOXC8 skos:exactMatch ncbigene:3224 semapv:UnspecifiedMatching -OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:5130 semapv:UnspecifiedMatching -OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:HOXC9 semapv:UnspecifiedMatching -OMIM:142971 HOXC9 skos:exactMatch ncbigene:3225 semapv:UnspecifiedMatching -OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:5128 semapv:UnspecifiedMatching -OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:HOXC6 semapv:UnspecifiedMatching -OMIM:142972 HOXC6 skos:exactMatch ncbigene:3223 semapv:UnspecifiedMatching -OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:5127 semapv:UnspecifiedMatching -OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:HOXC5 semapv:UnspecifiedMatching -OMIM:142973 HOXC5 skos:exactMatch ncbigene:3222 semapv:UnspecifiedMatching -OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:5126 semapv:UnspecifiedMatching -OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:HOXC4 semapv:UnspecifiedMatching -OMIM:142974 HOXC4 skos:exactMatch ncbigene:3221 semapv:UnspecifiedMatching -OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:5124 semapv:UnspecifiedMatching -OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:HOXC12 semapv:UnspecifiedMatching -OMIM:142975 HOXC12 skos:exactMatch ncbigene:3228 semapv:UnspecifiedMatching -OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:5125 semapv:UnspecifiedMatching -OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:HOXC13 semapv:UnspecifiedMatching -OMIM:142976 HOXC13 skos:exactMatch ncbigene:3229 semapv:UnspecifiedMatching -OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:5137 semapv:UnspecifiedMatching -OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:HOXD3 semapv:UnspecifiedMatching -OMIM:142980 HOXD3 skos:exactMatch ncbigene:3232 semapv:UnspecifiedMatching -OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:5138 semapv:UnspecifiedMatching -OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:HOXD4 semapv:UnspecifiedMatching -OMIM:142981 HOXD4 skos:exactMatch ncbigene:3233 semapv:UnspecifiedMatching -OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:5140 semapv:UnspecifiedMatching -OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:HOXD9 semapv:UnspecifiedMatching -OMIM:142982 HOXD9 skos:exactMatch ncbigene:3235 semapv:UnspecifiedMatching -OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:7391 semapv:UnspecifiedMatching -OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:MSX1 semapv:UnspecifiedMatching -OMIM:142983 MSX1 skos:exactMatch ncbigene:4487 semapv:UnspecifiedMatching -OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:5133 semapv:UnspecifiedMatching -OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:HOXD10 semapv:UnspecifiedMatching -OMIM:142984 HOXD10 skos:exactMatch ncbigene:3236 semapv:UnspecifiedMatching -OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:5139 semapv:UnspecifiedMatching -OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:HOXD8 semapv:UnspecifiedMatching -OMIM:142985 HOXD8 skos:exactMatch ncbigene:3234 semapv:UnspecifiedMatching -OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:5134 semapv:UnspecifiedMatching -OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:HOXD11 semapv:UnspecifiedMatching -OMIM:142986 HOXD11 skos:exactMatch ncbigene:3237 semapv:UnspecifiedMatching -OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:5132 semapv:UnspecifiedMatching -OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:HOXD1 semapv:UnspecifiedMatching -OMIM:142987 HOXD1 skos:exactMatch ncbigene:3231 semapv:UnspecifiedMatching -OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:5135 semapv:UnspecifiedMatching -OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:HOXD12 semapv:UnspecifiedMatching -OMIM:142988 HOXD12 skos:exactMatch ncbigene:3238 semapv:UnspecifiedMatching -OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:5136 semapv:UnspecifiedMatching -OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:HOXD13 semapv:UnspecifiedMatching -OMIM:142989 HOXD13 skos:exactMatch ncbigene:3239 semapv:UnspecifiedMatching -OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:3507 semapv:UnspecifiedMatching -OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:EVX2 semapv:UnspecifiedMatching -OMIM:142991 EVX2 skos:exactMatch ncbigene:344191 semapv:UnspecifiedMatching -OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:5017 semapv:UnspecifiedMatching -OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:HMX1 semapv:UnspecifiedMatching -OMIM:142992 HMX1 skos:exactMatch ncbigene:3166 semapv:UnspecifiedMatching -OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:1975 semapv:UnspecifiedMatching -OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:VSX2 semapv:UnspecifiedMatching -OMIM:142993 VSX2 skos:exactMatch ncbigene:338917 semapv:UnspecifiedMatching -OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:4979 semapv:UnspecifiedMatching -OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:MNX1 semapv:UnspecifiedMatching -OMIM:142994 MNX1 skos:exactMatch ncbigene:3110 semapv:UnspecifiedMatching -OMIM:142995 HLX skos:exactMatch hgnc.symbol:4978 semapv:UnspecifiedMatching -OMIM:142995 HLX skos:exactMatch hgnc.symbol:HLX semapv:UnspecifiedMatching -OMIM:142995 HLX skos:exactMatch ncbigene:3142 semapv:UnspecifiedMatching -OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:3506 semapv:UnspecifiedMatching -OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:EVX1 semapv:UnspecifiedMatching -OMIM:142996 EVX1 skos:exactMatch ncbigene:2128 semapv:UnspecifiedMatching -OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:4962 semapv:UnspecifiedMatching -OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:HLA-E semapv:UnspecifiedMatching -OMIM:143010 HLA-E skos:exactMatch ncbigene:3133 semapv:UnspecifiedMatching -OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:1166 semapv:UnspecifiedMatching -OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:RASSF7 semapv:UnspecifiedMatching -OMIM:143023 RASSF7 skos:exactMatch ncbigene:8045 semapv:UnspecifiedMatching -OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:4413 semapv:UnspecifiedMatching -OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:GNL1 semapv:UnspecifiedMatching -OMIM:143024 GNL1 skos:exactMatch ncbigene:2794 semapv:UnspecifiedMatching -OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:5180 semapv:UnspecifiedMatching -OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:HRES1 semapv:UnspecifiedMatching -OMIM:143025 HRES1 skos:exactMatch ncbigene:3272 semapv:UnspecifiedMatching -OMIM:143030 CD9 skos:exactMatch UMLS:C1413246 semapv:UnspecifiedMatching -OMIM:143030 CD9 skos:exactMatch hgnc.symbol:1709 semapv:UnspecifiedMatching -OMIM:143030 CD9 skos:exactMatch hgnc.symbol:CD9 semapv:UnspecifiedMatching -OMIM:143030 CD9 skos:exactMatch ncbigene:928 semapv:UnspecifiedMatching -OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:4921 semapv:UnspecifiedMatching -OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:HIVEP2 semapv:UnspecifiedMatching -OMIM:143054 HIVEP2 skos:exactMatch ncbigene:3097 semapv:UnspecifiedMatching -OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:1599 semapv:UnspecifiedMatching -OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:CCNT1 semapv:UnspecifiedMatching -OMIM:143055 CCNT1 skos:exactMatch ncbigene:904 semapv:UnspecifiedMatching -OMIM:143089 FOXN2 skos:exactMatch hgnc.symbol:5281 semapv:UnspecifiedMatching -OMIM:143089 FOXN2 skos:exactMatch hgnc.symbol:FOXN2 semapv:UnspecifiedMatching -OMIM:143089 FOXN2 skos:exactMatch ncbigene:3344 semapv:UnspecifiedMatching -OMIM:143100 huntington disease skos:exactMatch Orphanet:248111 semapv:UnspecifiedMatching -OMIM:143100 huntington disease skos:exactMatch Orphanet:399 semapv:UnspecifiedMatching -OMIM:143100 huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching -OMIM:143110 HLA-F skos:exactMatch UMLS:C1415586 semapv:UnspecifiedMatching -OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:4963 semapv:UnspecifiedMatching -OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:HLA-F semapv:UnspecifiedMatching -OMIM:143110 HLA-F skos:exactMatch ncbigene:3134 semapv:UnspecifiedMatching -OMIM:143170 MEA1 skos:exactMatch hgnc.symbol:6986 semapv:UnspecifiedMatching -OMIM:143170 MEA1 skos:exactMatch hgnc.symbol:MEA1 semapv:UnspecifiedMatching -OMIM:143170 MEA1 skos:exactMatch ncbigene:4201 semapv:UnspecifiedMatching -OMIM:143450 HADHB skos:exactMatch hgnc.symbol:4803 semapv:UnspecifiedMatching -OMIM:143450 HADHB skos:exactMatch hgnc.symbol:HADHB semapv:UnspecifiedMatching -OMIM:143450 HADHB skos:exactMatch ncbigene:3032 semapv:UnspecifiedMatching -OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc.symbol:5285 semapv:UnspecifiedMatching -OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc.symbol:HTOR semapv:UnspecifiedMatching -OMIM:143465 attention deficit-hyperactivity disorder skos:exactMatch UMLS:C1263846 semapv:UnspecifiedMatching -OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching -OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C0745103 semapv:UnspecifiedMatching -OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C3276941 semapv:UnspecifiedMatching -OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching -OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C1704417 semapv:UnspecifiedMatching -OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C3888316 semapv:UnspecifiedMatching -OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch Orphanet:422526 semapv:UnspecifiedMatching -OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0007134 semapv:UnspecifiedMatching -OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching -OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C2750825 semapv:UnspecifiedMatching -OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch Orphanet:2790 semapv:UnspecifiedMatching -OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch UMLS:C0432273 semapv:UnspecifiedMatching -OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch Orphanet:1519 semapv:UnspecifiedMatching -OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch UMLS:C0796179 semapv:UnspecifiedMatching -OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:10522 semapv:UnspecifiedMatching -OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:ACSM3 semapv:UnspecifiedMatching -OMIM:145505 ACSM3 skos:exactMatch ncbigene:6296 semapv:UnspecifiedMatching -OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:165994 semapv:UnspecifiedMatching -OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching -OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch UMLS:C1840364 semapv:UnspecifiedMatching -OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch Orphanet:64748 semapv:UnspecifiedMatching -OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch UMLS:C0011195 semapv:UnspecifiedMatching -OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching -OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:93372 semapv:UnspecifiedMatching -OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch UMLS:C0342637 semapv:UnspecifiedMatching -OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:101049 semapv:UnspecifiedMatching -OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching -OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2239 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching -OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch Orphanet:2237 semapv:UnspecifiedMatching -OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch UMLS:C1840333 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247676 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching -OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching -OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching -OMIM:146550 hypotrichosis 4 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching -OMIM:146550 hypotrichosis 4 skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching -OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:5345 semapv:UnspecifiedMatching -OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:ICAM2 semapv:UnspecifiedMatching -OMIM:146630 ICAM2 skos:exactMatch ncbigene:3384 semapv:UnspecifiedMatching -OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:5346 semapv:UnspecifiedMatching -OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:ICAM3 semapv:UnspecifiedMatching -OMIM:146631 ICAM3 skos:exactMatch ncbigene:3385 semapv:UnspecifiedMatching -OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:6167 semapv:UnspecifiedMatching -OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:ITIH2 semapv:UnspecifiedMatching -OMIM:146640 ITIH2 skos:exactMatch ncbigene:3698 semapv:UnspecifiedMatching -OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:6168 semapv:UnspecifiedMatching -OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:ITIH3 semapv:UnspecifiedMatching -OMIM:146650 ITIH3 skos:exactMatch ncbigene:3699 semapv:UnspecifiedMatching -OMIM:146660 IL7 skos:exactMatch hgnc.symbol:6023 semapv:UnspecifiedMatching -OMIM:146660 IL7 skos:exactMatch hgnc.symbol:IL7 semapv:UnspecifiedMatching -OMIM:146660 IL7 skos:exactMatch ncbigene:3574 semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch UMLS:C1334123 semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch UMLS:C1837028 semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch hgnc.symbol:6024 semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch hgnc.symbol:IL7R semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch ncbigene:3575 semapv:UnspecifiedMatching -OMIM:146680 IDE skos:exactMatch UMLS:C1415875 semapv:UnspecifiedMatching -OMIM:146680 IDE skos:exactMatch hgnc.symbol:5381 semapv:UnspecifiedMatching -OMIM:146680 IDE skos:exactMatch hgnc.symbol:IDE semapv:UnspecifiedMatching -OMIM:146680 IDE skos:exactMatch ncbigene:3416 semapv:UnspecifiedMatching -OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:6052 semapv:UnspecifiedMatching -OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:IMPDH1 semapv:UnspecifiedMatching -OMIM:146690 IMPDH1 skos:exactMatch ncbigene:3614 semapv:UnspecifiedMatching -OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:6053 semapv:UnspecifiedMatching -OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:IMPDH2 semapv:UnspecifiedMatching -OMIM:146691 IMPDH2 skos:exactMatch ncbigene:3615 semapv:UnspecifiedMatching -OMIM:146700 ichthyosis vulgaris skos:exactMatch UMLS:C0079584 semapv:UnspecifiedMatching -OMIM:146710 IL2RB skos:exactMatch hgnc.symbol:6009 semapv:UnspecifiedMatching -OMIM:146710 IL2RB skos:exactMatch hgnc.symbol:IL2RB semapv:UnspecifiedMatching -OMIM:146710 IL2RB skos:exactMatch ncbigene:3560 semapv:UnspecifiedMatching -OMIM:146730 IGFBP1 skos:exactMatch hgnc.symbol:5469 semapv:UnspecifiedMatching -OMIM:146730 IGFBP1 skos:exactMatch hgnc.symbol:IGFBP1 semapv:UnspecifiedMatching -OMIM:146730 IGFBP1 skos:exactMatch ncbigene:3484 semapv:UnspecifiedMatching -OMIM:146731 IGFBP2 skos:exactMatch hgnc.symbol:5471 semapv:UnspecifiedMatching -OMIM:146731 IGFBP2 skos:exactMatch hgnc.symbol:IGFBP2 semapv:UnspecifiedMatching -OMIM:146731 IGFBP2 skos:exactMatch ncbigene:3485 semapv:UnspecifiedMatching -OMIM:146732 IGFBP3 skos:exactMatch hgnc.symbol:5472 semapv:UnspecifiedMatching -OMIM:146732 IGFBP3 skos:exactMatch hgnc.symbol:IGFBP3 semapv:UnspecifiedMatching -OMIM:146732 IGFBP3 skos:exactMatch ncbigene:3486 semapv:UnspecifiedMatching -OMIM:146733 IGFBP4 skos:exactMatch hgnc.symbol:5473 semapv:UnspecifiedMatching -OMIM:146733 IGFBP4 skos:exactMatch hgnc.symbol:IGFBP4 semapv:UnspecifiedMatching -OMIM:146733 IGFBP4 skos:exactMatch ncbigene:3487 semapv:UnspecifiedMatching -OMIM:146734 IGFBP5 skos:exactMatch hgnc.symbol:5474 semapv:UnspecifiedMatching -OMIM:146734 IGFBP5 skos:exactMatch hgnc.symbol:IGFBP5 semapv:UnspecifiedMatching -OMIM:146734 IGFBP5 skos:exactMatch ncbigene:3488 semapv:UnspecifiedMatching -OMIM:146735 IGFBP6 skos:exactMatch hgnc.symbol:5475 semapv:UnspecifiedMatching -OMIM:146735 IGFBP6 skos:exactMatch hgnc.symbol:IGFBP6 semapv:UnspecifiedMatching -OMIM:146735 IGFBP6 skos:exactMatch ncbigene:3489 semapv:UnspecifiedMatching -OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:6086 semapv:UnspecifiedMatching -OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:INSL3 semapv:UnspecifiedMatching -OMIM:146738 INSL3 skos:exactMatch ncbigene:3640 semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch UMLS:C1414555 semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:3619 semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:FCGR3A semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch ncbigene:2214 semapv:UnspecifiedMatching -OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch Orphanet:313 semapv:UnspecifiedMatching -OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch UMLS:C1414550 semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch UMLS:C4016211 semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch UMLS:C4017539 semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch hgnc.symbol:3613 semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch hgnc.symbol:FCGR1A semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch ncbigene:2209 semapv:UnspecifiedMatching -OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:5870 semapv:UnspecifiedMatching -OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:IGLL1 semapv:UnspecifiedMatching -OMIM:146770 IGLL1 skos:exactMatch ncbigene:3543 semapv:UnspecifiedMatching -OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:5717 semapv:UnspecifiedMatching -OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:IGKDEL semapv:UnspecifiedMatching -OMIM:146780 IGKDEL skos:exactMatch ncbigene:3515 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch UMLS:C1414553 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch UMLS:C1840270 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch UMLS:C1970029 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch UMLS:C4016213 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:3616 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:FCGR2A semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch ncbigene:2212 semapv:UnspecifiedMatching -OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching -OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching -OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:4942 semapv:UnspecifiedMatching -OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:HLA-DQA1 semapv:UnspecifiedMatching -OMIM:146880 HLA-DQA1 skos:exactMatch ncbigene:3117 semapv:UnspecifiedMatching -OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:5478 semapv:UnspecifiedMatching -OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:IGHA1 semapv:UnspecifiedMatching -OMIM:146900 IGHA1 skos:exactMatch ncbigene:3493 semapv:UnspecifiedMatching -OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching -OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching -OMIM:146910 IGHD@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching -OMIM:146920 ADAR skos:exactMatch hgnc.symbol:225 semapv:UnspecifiedMatching -OMIM:146920 ADAR skos:exactMatch hgnc.symbol:ADAR semapv:UnspecifiedMatching -OMIM:146920 ADAR skos:exactMatch ncbigene:103 semapv:UnspecifiedMatching -OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:6027 semapv:UnspecifiedMatching -OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:CXCR2 semapv:UnspecifiedMatching -OMIM:146928 CXCR2 skos:exactMatch ncbigene:3579 semapv:UnspecifiedMatching -OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:6026 semapv:UnspecifiedMatching -OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:CXCR1 semapv:UnspecifiedMatching -OMIM:146929 CXCR1 skos:exactMatch ncbigene:3577 semapv:UnspecifiedMatching -OMIM:146930 CXCL8 skos:exactMatch hgnc.symbol:6025 semapv:UnspecifiedMatching -OMIM:146930 CXCL8 skos:exactMatch hgnc.symbol:CXCL8 semapv:UnspecifiedMatching -OMIM:146930 CXCL8 skos:exactMatch ncbigene:3576 semapv:UnspecifiedMatching -OMIM:146931 IL9 skos:exactMatch UMLS:C1334127 semapv:UnspecifiedMatching -OMIM:146931 IL9 skos:exactMatch hgnc.symbol:6029 semapv:UnspecifiedMatching -OMIM:146931 IL9 skos:exactMatch hgnc.symbol:IL9 semapv:UnspecifiedMatching -OMIM:146931 IL9 skos:exactMatch ncbigene:3578 semapv:UnspecifiedMatching -OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:5964 semapv:UnspecifiedMatching -OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:IL10RA semapv:UnspecifiedMatching -OMIM:146933 IL10RA skos:exactMatch ncbigene:3587 semapv:UnspecifiedMatching -OMIM:146970 IGKJ@ skos:exactMatch ncbigene:7842 semapv:UnspecifiedMatching -OMIM:146980 IGKV@ skos:exactMatch ncbigene:3519 semapv:UnspecifiedMatching -OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:5479 semapv:UnspecifiedMatching -OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:IGHA2 semapv:UnspecifiedMatching -OMIM:147000 IGHA2 skos:exactMatch ncbigene:3494 semapv:UnspecifiedMatching -OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching -OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching -OMIM:147010 IGHJ@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching -OMIM:147020 IGHM skos:exactMatch hgnc.symbol:5541 semapv:UnspecifiedMatching -OMIM:147020 IGHM skos:exactMatch hgnc.symbol:IGHM semapv:UnspecifiedMatching -OMIM:147020 IGHM skos:exactMatch ncbigene:3507 semapv:UnspecifiedMatching -OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:5409 semapv:UnspecifiedMatching -OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:IFIT2 semapv:UnspecifiedMatching -OMIM:147040 IFIT2 skos:exactMatch ncbigene:3433 semapv:UnspecifiedMatching -OMIM:147045 FCAR skos:exactMatch hgnc.symbol:3608 semapv:UnspecifiedMatching -OMIM:147045 FCAR skos:exactMatch hgnc.symbol:FCAR semapv:UnspecifiedMatching -OMIM:147045 FCAR skos:exactMatch ncbigene:2204 semapv:UnspecifiedMatching -OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch Orphanet:2314 semapv:UnspecifiedMatching -OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C2936739 semapv:UnspecifiedMatching -OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C3887645 semapv:UnspecifiedMatching -OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching -OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching -OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching -OMIM:147070 IGHV@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching -OMIM:147100 IGHG1 skos:exactMatch UMLS:C1415978 semapv:UnspecifiedMatching -OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:5525 semapv:UnspecifiedMatching -OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:IGHG1 semapv:UnspecifiedMatching -OMIM:147100 IGHG1 skos:exactMatch ncbigene:3500 semapv:UnspecifiedMatching -OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:5526 semapv:UnspecifiedMatching -OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:IGHG2 semapv:UnspecifiedMatching -OMIM:147110 IGHG2 skos:exactMatch ncbigene:3501 semapv:UnspecifiedMatching -OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:5527 semapv:UnspecifiedMatching -OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:IGHG3 semapv:UnspecifiedMatching -OMIM:147120 IGHG3 skos:exactMatch ncbigene:3502 semapv:UnspecifiedMatching -OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:5528 semapv:UnspecifiedMatching -OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:IGHG4 semapv:UnspecifiedMatching -OMIM:147130 IGHG4 skos:exactMatch ncbigene:3503 semapv:UnspecifiedMatching -OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:7316 semapv:UnspecifiedMatching -OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:MS4A2 semapv:UnspecifiedMatching -OMIM:147138 MS4A2 skos:exactMatch ncbigene:2206 semapv:UnspecifiedMatching -OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:3611 semapv:UnspecifiedMatching -OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:FCER1G semapv:UnspecifiedMatching -OMIM:147139 FCER1G skos:exactMatch ncbigene:2207 semapv:UnspecifiedMatching -OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:3609 semapv:UnspecifiedMatching -OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:FCER1A semapv:UnspecifiedMatching -OMIM:147140 FCER1A skos:exactMatch ncbigene:2205 semapv:UnspecifiedMatching -OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:11633 semapv:UnspecifiedMatching -OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:TCF3 semapv:UnspecifiedMatching -OMIM:147141 TCF3 skos:exactMatch ncbigene:6929 semapv:UnspecifiedMatching -OMIM:147150 MX1 skos:exactMatch hgnc.symbol:7532 semapv:UnspecifiedMatching -OMIM:147150 MX1 skos:exactMatch hgnc.symbol:MX1 semapv:UnspecifiedMatching -OMIM:147150 MX1 skos:exactMatch ncbigene:4599 semapv:UnspecifiedMatching -OMIM:147170 IGHD skos:exactMatch hgnc.symbol:5480 semapv:UnspecifiedMatching -OMIM:147170 IGHD skos:exactMatch hgnc.symbol:IGHD semapv:UnspecifiedMatching -OMIM:147170 IGHD skos:exactMatch ncbigene:3495 semapv:UnspecifiedMatching -OMIM:147180 IGHE skos:exactMatch hgnc.symbol:5522 semapv:UnspecifiedMatching -OMIM:147180 IGHE skos:exactMatch hgnc.symbol:IGHE semapv:UnspecifiedMatching -OMIM:147180 IGHE skos:exactMatch ncbigene:3497 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch UMLS:C1416171 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch UMLS:C3553748 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:5724 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:RBPJ semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch ncbigene:3516 semapv:UnspecifiedMatching -OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:5767 semapv:UnspecifiedMatching -OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:IGKV1OR2-108 semapv:UnspecifiedMatching -OMIM:147185 IGKV1OR2108 skos:exactMatch ncbigene:28862 semapv:UnspecifiedMatching -OMIM:147200 IGKC skos:exactMatch hgnc.symbol:5716 semapv:UnspecifiedMatching -OMIM:147200 IGKC skos:exactMatch hgnc.symbol:IGKC semapv:UnspecifiedMatching -OMIM:147200 IGKC skos:exactMatch ncbigene:3514 semapv:UnspecifiedMatching -OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:5855 semapv:UnspecifiedMatching -OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:IGLC1 semapv:UnspecifiedMatching -OMIM:147220 IGLC1 skos:exactMatch ncbigene:3537 semapv:UnspecifiedMatching -OMIM:147230 IGLJ@ skos:exactMatch ncbigene:8217 semapv:UnspecifiedMatching -OMIM:147240 IGLV@ skos:exactMatch ncbigene:3546 semapv:UnspecifiedMatching -OMIM:147245 CD79B skos:exactMatch hgnc.symbol:1699 semapv:UnspecifiedMatching -OMIM:147245 CD79B skos:exactMatch hgnc.symbol:CD79B semapv:UnspecifiedMatching -OMIM:147245 CD79B skos:exactMatch ncbigene:974 semapv:UnspecifiedMatching -OMIM:147263 INPP1 skos:exactMatch hgnc.symbol:6071 semapv:UnspecifiedMatching -OMIM:147263 INPP1 skos:exactMatch hgnc.symbol:INPP1 semapv:UnspecifiedMatching -OMIM:147263 INPP1 skos:exactMatch ncbigene:3628 semapv:UnspecifiedMatching -OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:6077 semapv:UnspecifiedMatching -OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:INPP5B semapv:UnspecifiedMatching -OMIM:147264 INPP5B skos:exactMatch ncbigene:3633 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch UMLS:C0431401 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch UMLS:C1334148 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:6180 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:ITPR1 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch ncbigene:3708 semapv:UnspecifiedMatching -OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:6182 semapv:UnspecifiedMatching -OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:ITPR3 semapv:UnspecifiedMatching -OMIM:147267 ITPR3 skos:exactMatch ncbigene:3710 semapv:UnspecifiedMatching -OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:6166 semapv:UnspecifiedMatching -OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:ITIH1 semapv:UnspecifiedMatching -OMIM:147270 ITIH1 skos:exactMatch ncbigene:3697 semapv:UnspecifiedMatching -OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:5467 semapv:UnspecifiedMatching -OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:IGF2R semapv:UnspecifiedMatching -OMIM:147280 IGF2R skos:exactMatch ncbigene:3482 semapv:UnspecifiedMatching -OMIM:147290 INHBA skos:exactMatch hgnc.symbol:6066 semapv:UnspecifiedMatching -OMIM:147290 INHBA skos:exactMatch hgnc.symbol:INHBA semapv:UnspecifiedMatching -OMIM:147290 INHBA skos:exactMatch ncbigene:3624 semapv:UnspecifiedMatching -OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:10637 semapv:UnspecifiedMatching -OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:CXCL10 semapv:UnspecifiedMatching -OMIM:147310 CXCL10 skos:exactMatch ncbigene:3627 semapv:UnspecifiedMatching -OMIM:147360 IVL skos:exactMatch hgnc.symbol:6187 semapv:UnspecifiedMatching -OMIM:147360 IVL skos:exactMatch hgnc.symbol:IVL semapv:UnspecifiedMatching -OMIM:147360 IVL skos:exactMatch ncbigene:3713 semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch UMLS:C1334088 semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch UMLS:C1849157 semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:5465 semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:IGF1R semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch ncbigene:3480 semapv:UnspecifiedMatching -OMIM:147380 INHA skos:exactMatch hgnc.symbol:6065 semapv:UnspecifiedMatching -OMIM:147380 INHA skos:exactMatch hgnc.symbol:INHA semapv:UnspecifiedMatching -OMIM:147380 INHA skos:exactMatch ncbigene:3623 semapv:UnspecifiedMatching -OMIM:147390 INHBB skos:exactMatch hgnc.symbol:6067 semapv:UnspecifiedMatching -OMIM:147390 INHBB skos:exactMatch hgnc.symbol:INHBB semapv:UnspecifiedMatching -OMIM:147390 INHBB skos:exactMatch ncbigene:3625 semapv:UnspecifiedMatching -OMIM:147430 marsili syndrome skos:exactMatch UMLS:C1840219 semapv:UnspecifiedMatching -OMIM:147430 marsili syndrome skos:exactMatch UMLS:C4538468 semapv:UnspecifiedMatching -OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:6059 semapv:UnspecifiedMatching -OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:IDO1 semapv:UnspecifiedMatching -OMIM:147435 IDO1 skos:exactMatch ncbigene:3620 semapv:UnspecifiedMatching -OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:5464 semapv:UnspecifiedMatching -OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:IGF1 semapv:UnspecifiedMatching -OMIM:147440 IGF1 skos:exactMatch ncbigene:3479 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch UMLS:C1420306 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch UMLS:C3542025 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch UMLS:C5231422 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:11179 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:SOD1 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch ncbigene:6647 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C1420307 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C2675128 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch UMLS:C4016223 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:11180 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:SOD2 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch ncbigene:6648 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch UMLS:C1334091 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch UMLS:C4016224 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:5466 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:IGF2 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch ncbigene:3481 semapv:UnspecifiedMatching -OMIM:147485 IPP skos:exactMatch hgnc.symbol:6108 semapv:UnspecifiedMatching -OMIM:147485 IPP skos:exactMatch hgnc.symbol:IPP semapv:UnspecifiedMatching -OMIM:147485 IPP skos:exactMatch ncbigene:3652 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch UMLS:C0342800 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch UMLS:C1416514 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch hgnc.symbol:6176 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch hgnc.symbol:ITPA semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch ncbigene:3704 semapv:UnspecifiedMatching -OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:6178 semapv:UnspecifiedMatching -OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:ITPKA semapv:UnspecifiedMatching -OMIM:147521 ITPKA skos:exactMatch ncbigene:3706 semapv:UnspecifiedMatching -OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:6179 semapv:UnspecifiedMatching -OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:ITPKB semapv:UnspecifiedMatching -OMIM:147522 ITPKB skos:exactMatch ncbigene:3707 semapv:UnspecifiedMatching -OMIM:147545 IRS1 skos:exactMatch hgnc.symbol:6125 semapv:UnspecifiedMatching -OMIM:147545 IRS1 skos:exactMatch hgnc.symbol:IRS1 semapv:UnspecifiedMatching -OMIM:147545 IRS1 skos:exactMatch ncbigene:3667 semapv:UnspecifiedMatching -OMIM:147553 IFNW1 skos:exactMatch hgnc.symbol:5448 semapv:UnspecifiedMatching -OMIM:147553 IFNW1 skos:exactMatch hgnc.symbol:IFNW1 semapv:UnspecifiedMatching -OMIM:147553 IFNW1 skos:exactMatch ncbigene:3467 semapv:UnspecifiedMatching -OMIM:147556 ITGA6 skos:exactMatch hgnc.symbol:6142 semapv:UnspecifiedMatching -OMIM:147556 ITGA6 skos:exactMatch hgnc.symbol:ITGA6 semapv:UnspecifiedMatching -OMIM:147556 ITGA6 skos:exactMatch ncbigene:3655 semapv:UnspecifiedMatching -OMIM:147557 ITGB4 skos:exactMatch hgnc.symbol:6158 semapv:UnspecifiedMatching -OMIM:147557 ITGB4 skos:exactMatch hgnc.symbol:ITGB4 semapv:UnspecifiedMatching -OMIM:147557 ITGB4 skos:exactMatch ncbigene:3691 semapv:UnspecifiedMatching -OMIM:147558 ITGB6 skos:exactMatch hgnc.symbol:6161 semapv:UnspecifiedMatching -OMIM:147558 ITGB6 skos:exactMatch hgnc.symbol:ITGB6 semapv:UnspecifiedMatching -OMIM:147558 ITGB6 skos:exactMatch ncbigene:3694 semapv:UnspecifiedMatching -OMIM:147559 ITGB7 skos:exactMatch hgnc.symbol:6162 semapv:UnspecifiedMatching -OMIM:147559 ITGB7 skos:exactMatch hgnc.symbol:ITGB7 semapv:UnspecifiedMatching -OMIM:147559 ITGB7 skos:exactMatch ncbigene:3695 semapv:UnspecifiedMatching -OMIM:147561 ITGB5 skos:exactMatch hgnc.symbol:6160 semapv:UnspecifiedMatching -OMIM:147561 ITGB5 skos:exactMatch hgnc.symbol:ITGB5 semapv:UnspecifiedMatching -OMIM:147561 ITGB5 skos:exactMatch ncbigene:3693 semapv:UnspecifiedMatching -OMIM:147562 IFNA2 skos:exactMatch hgnc.symbol:5423 semapv:UnspecifiedMatching -OMIM:147562 IFNA2 skos:exactMatch hgnc.symbol:IFNA2 semapv:UnspecifiedMatching -OMIM:147562 IFNA2 skos:exactMatch ncbigene:3440 semapv:UnspecifiedMatching -OMIM:147563 IBSP skos:exactMatch hgnc.symbol:5341 semapv:UnspecifiedMatching -OMIM:147563 IBSP skos:exactMatch hgnc.symbol:IBSP semapv:UnspecifiedMatching -OMIM:147563 IBSP skos:exactMatch ncbigene:3381 semapv:UnspecifiedMatching -OMIM:147564 IFNA4 skos:exactMatch hgnc.symbol:5425 semapv:UnspecifiedMatching -OMIM:147564 IFNA4 skos:exactMatch hgnc.symbol:IFNA4 semapv:UnspecifiedMatching -OMIM:147564 IFNA4 skos:exactMatch ncbigene:3441 semapv:UnspecifiedMatching -OMIM:147565 IFNA5 skos:exactMatch hgnc.symbol:5426 semapv:UnspecifiedMatching -OMIM:147565 IFNA5 skos:exactMatch hgnc.symbol:IFNA5 semapv:UnspecifiedMatching -OMIM:147565 IFNA5 skos:exactMatch ncbigene:3442 semapv:UnspecifiedMatching -OMIM:147566 IFNA6 skos:exactMatch hgnc.symbol:5427 semapv:UnspecifiedMatching -OMIM:147566 IFNA6 skos:exactMatch hgnc.symbol:IFNA6 semapv:UnspecifiedMatching -OMIM:147566 IFNA6 skos:exactMatch ncbigene:3443 semapv:UnspecifiedMatching -OMIM:147567 IFNA7 skos:exactMatch hgnc.symbol:5428 semapv:UnspecifiedMatching -OMIM:147567 IFNA7 skos:exactMatch hgnc.symbol:IFNA7 semapv:UnspecifiedMatching -OMIM:147567 IFNA7 skos:exactMatch ncbigene:3444 semapv:UnspecifiedMatching -OMIM:147568 IFNA8 skos:exactMatch hgnc.symbol:5429 semapv:UnspecifiedMatching -OMIM:147568 IFNA8 skos:exactMatch hgnc.symbol:IFNA8 semapv:UnspecifiedMatching -OMIM:147568 IFNA8 skos:exactMatch ncbigene:3445 semapv:UnspecifiedMatching -OMIM:147569 IFNGR2 skos:exactMatch UMLS:C1334084 semapv:UnspecifiedMatching -OMIM:147569 IFNGR2 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching -OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:5440 semapv:UnspecifiedMatching -OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:IFNGR2 semapv:UnspecifiedMatching -OMIM:147569 IFNGR2 skos:exactMatch ncbigene:3460 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C1334085 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C2684859 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C2750389 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C2750460 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C4016227 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch hgnc.symbol:5438 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch hgnc.symbol:IFNG semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch ncbigene:3458 semapv:UnspecifiedMatching -OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:4053 semapv:UnspecifiedMatching -OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:ISG15 semapv:UnspecifiedMatching -OMIM:147571 ISG15 skos:exactMatch ncbigene:9636 semapv:UnspecifiedMatching -OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:4054 semapv:UnspecifiedMatching -OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:IFI6 semapv:UnspecifiedMatching -OMIM:147572 IFI6 skos:exactMatch ncbigene:2537 semapv:UnspecifiedMatching -OMIM:147573 IFNR skos:exactMatch hgnc.symbol:5447 semapv:UnspecifiedMatching -OMIM:147573 IFNR skos:exactMatch hgnc.symbol:IFNR semapv:UnspecifiedMatching -OMIM:147573 IFNR skos:exactMatch ncbigene:3466 semapv:UnspecifiedMatching -OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:6131 semapv:UnspecifiedMatching -OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:IRF9 semapv:UnspecifiedMatching -OMIM:147574 IRF9 skos:exactMatch ncbigene:10379 semapv:UnspecifiedMatching -OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:6116 semapv:UnspecifiedMatching -OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:IRF1 semapv:UnspecifiedMatching -OMIM:147575 IRF1 skos:exactMatch ncbigene:3659 semapv:UnspecifiedMatching -OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:6117 semapv:UnspecifiedMatching -OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:IRF2 semapv:UnspecifiedMatching -OMIM:147576 IRF2 skos:exactMatch ncbigene:3660 semapv:UnspecifiedMatching -OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:5418 semapv:UnspecifiedMatching -OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:IFNA10 semapv:UnspecifiedMatching -OMIM:147577 IFNA10 skos:exactMatch ncbigene:3446 semapv:UnspecifiedMatching -OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:5419 semapv:UnspecifiedMatching -OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:IFNA13 semapv:UnspecifiedMatching -OMIM:147578 IFNA13 skos:exactMatch ncbigene:3447 semapv:UnspecifiedMatching -OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:5420 semapv:UnspecifiedMatching -OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:IFNA14 semapv:UnspecifiedMatching -OMIM:147579 IFNA14 skos:exactMatch ncbigene:3448 semapv:UnspecifiedMatching -OMIM:147580 IFNA16 skos:exactMatch hgnc.symbol:5421 semapv:UnspecifiedMatching -OMIM:147580 IFNA16 skos:exactMatch hgnc.symbol:IFNA16 semapv:UnspecifiedMatching -OMIM:147580 IFNA16 skos:exactMatch ncbigene:3449 semapv:UnspecifiedMatching -OMIM:147582 IREB2 skos:exactMatch hgnc.symbol:6115 semapv:UnspecifiedMatching -OMIM:147582 IREB2 skos:exactMatch hgnc.symbol:IREB2 semapv:UnspecifiedMatching -OMIM:147582 IREB2 skos:exactMatch ncbigene:3658 semapv:UnspecifiedMatching -OMIM:147583 IFNA17 skos:exactMatch hgnc.symbol:5422 semapv:UnspecifiedMatching -OMIM:147583 IFNA17 skos:exactMatch hgnc.symbol:IFNA17 semapv:UnspecifiedMatching -OMIM:147583 IFNA17 skos:exactMatch ncbigene:3451 semapv:UnspecifiedMatching -OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:5424 semapv:UnspecifiedMatching -OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:IFNA21 semapv:UnspecifiedMatching -OMIM:147584 IFNA21 skos:exactMatch ncbigene:3452 semapv:UnspecifiedMatching -OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:5395 semapv:UnspecifiedMatching -OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:IFI16 semapv:UnspecifiedMatching -OMIM:147586 IFI16 skos:exactMatch ncbigene:3428 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C1334122 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C1840138 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C2675113 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C3538945 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C3837968 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C4016228 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch UMLS:C4016229 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch hgnc.symbol:6018 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch hgnc.symbol:IL6 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch ncbigene:3569 semapv:UnspecifiedMatching -OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:5343 semapv:UnspecifiedMatching -OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:ICA1 semapv:UnspecifiedMatching -OMIM:147625 ICA1 skos:exactMatch ncbigene:3382 semapv:UnspecifiedMatching -OMIM:147630 insulinomatosis and diabetes mellitus skos:exactMatch UMLS:C1578917 semapv:UnspecifiedMatching -OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:5434 semapv:UnspecifiedMatching -OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:IFNB1 semapv:UnspecifiedMatching -OMIM:147640 IFNB1 skos:exactMatch ncbigene:3456 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch UMLS:C1415877 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch UMLS:C3150909 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:5383 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:IDH2 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch ncbigene:3418 semapv:UnspecifiedMatching -OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:5417 semapv:UnspecifiedMatching -OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:IFNA1 semapv:UnspecifiedMatching -OMIM:147660 IFNA1 skos:exactMatch ncbigene:3439 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0021655 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0265344 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0271695 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0342278 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C0854110 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C1334133 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C1864952 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch hgnc.symbol:6091 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch hgnc.symbol:INSR semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch ncbigene:3643 semapv:UnspecifiedMatching -OMIM:147671 INSRR skos:exactMatch hgnc.symbol:6093 semapv:UnspecifiedMatching -OMIM:147671 INSRR skos:exactMatch hgnc.symbol:INSRR semapv:UnspecifiedMatching -OMIM:147671 INSRR skos:exactMatch ncbigene:3645 semapv:UnspecifiedMatching -OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:1499 semapv:UnspecifiedMatching -OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:CASP1 semapv:UnspecifiedMatching -OMIM:147678 CASP1 skos:exactMatch ncbigene:834 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch UMLS:C1416402 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch UMLS:C2675112 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch UMLS:C2748507 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch UMLS:C4016230 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:6000 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:IL1RN semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch ncbigene:3557 semapv:UnspecifiedMatching -OMIM:147680 IL2 skos:exactMatch hgnc.symbol:6001 semapv:UnspecifiedMatching -OMIM:147680 IL2 skos:exactMatch hgnc.symbol:IL2 semapv:UnspecifiedMatching -OMIM:147680 IL2 skos:exactMatch ncbigene:3558 semapv:UnspecifiedMatching -OMIM:147681 IL11 skos:exactMatch hgnc.symbol:5966 semapv:UnspecifiedMatching -OMIM:147681 IL11 skos:exactMatch hgnc.symbol:IL11 semapv:UnspecifiedMatching -OMIM:147681 IL11 skos:exactMatch ncbigene:3589 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch UMLS:C1334103 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch UMLS:C1869116 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch UMLS:C4017540 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch hgnc.symbol:5973 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch hgnc.symbol:IL13 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch ncbigene:3596 semapv:UnspecifiedMatching -OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:6036 semapv:UnspecifiedMatching -OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:FOXK2 semapv:UnspecifiedMatching -OMIM:147685 FOXK2 skos:exactMatch ncbigene:3607 semapv:UnspecifiedMatching -OMIM:147690 IFIT1 skos:exactMatch hgnc.symbol:5407 semapv:UnspecifiedMatching -OMIM:147690 IFIT1 skos:exactMatch hgnc.symbol:IFIT1 semapv:UnspecifiedMatching -OMIM:147690 IFIT1 skos:exactMatch ncbigene:3434 semapv:UnspecifiedMatching -OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:5382 semapv:UnspecifiedMatching -OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:IDH1 semapv:UnspecifiedMatching -OMIM:147700 IDH1 skos:exactMatch ncbigene:3417 semapv:UnspecifiedMatching -OMIM:147720 IL1B skos:exactMatch hgnc.symbol:5992 semapv:UnspecifiedMatching -OMIM:147720 IL1B skos:exactMatch hgnc.symbol:IL1B semapv:UnspecifiedMatching -OMIM:147720 IL1B skos:exactMatch ncbigene:3553 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch UMLS:C1334114 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch UMLS:C1853392 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch UMLS:C5436940 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:6008 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:IL2RA semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch ncbigene:3559 semapv:UnspecifiedMatching -OMIM:147740 IL3 skos:exactMatch hgnc.symbol:6011 semapv:UnspecifiedMatching -OMIM:147740 IL3 skos:exactMatch hgnc.symbol:IL3 semapv:UnspecifiedMatching -OMIM:147740 IL3 skos:exactMatch ncbigene:3562 semapv:UnspecifiedMatching -OMIM:147750 ivic syndrome skos:exactMatch Orphanet:2307 semapv:UnspecifiedMatching -OMIM:147750 ivic syndrome skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching -OMIM:147760 IL1A skos:exactMatch hgnc.symbol:5991 semapv:UnspecifiedMatching -OMIM:147760 IL1A skos:exactMatch hgnc.symbol:IL1A semapv:UnspecifiedMatching -OMIM:147760 IL1A skos:exactMatch ncbigene:3552 semapv:UnspecifiedMatching -OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 semapv:UnspecifiedMatching -OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch UMLS:C0796002 semapv:UnspecifiedMatching -OMIM:147780 IL4 skos:exactMatch UMLS:C1334119 semapv:UnspecifiedMatching -OMIM:147780 IL4 skos:exactMatch hgnc.symbol:6014 semapv:UnspecifiedMatching -OMIM:147780 IL4 skos:exactMatch hgnc.symbol:IL4 semapv:UnspecifiedMatching -OMIM:147780 IL4 skos:exactMatch ncbigene:3565 semapv:UnspecifiedMatching -OMIM:147781 IL4R skos:exactMatch hgnc.symbol:6015 semapv:UnspecifiedMatching -OMIM:147781 IL4R skos:exactMatch hgnc.symbol:IL4R semapv:UnspecifiedMatching -OMIM:147781 IL4R skos:exactMatch ncbigene:3566 semapv:UnspecifiedMatching -OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:5713 semapv:UnspecifiedMatching -OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:JCHAIN semapv:UnspecifiedMatching -OMIM:147790 JCHAIN skos:exactMatch ncbigene:3512 semapv:UnspecifiedMatching -OMIM:147791 jacobsen syndrome skos:exactMatch Orphanet:2308 semapv:UnspecifiedMatching -OMIM:147791 jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching -OMIM:147795 JAK1 skos:exactMatch UMLS:C1334290 semapv:UnspecifiedMatching -OMIM:147795 JAK1 skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching -OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:6190 semapv:UnspecifiedMatching -OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:JAK1 semapv:UnspecifiedMatching -OMIM:147795 JAK1 skos:exactMatch ncbigene:3716 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C1334291 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C2675105 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C3276959 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C3281125 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C4016233 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch UMLS:C4016234 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:6192 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:JAK2 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch ncbigene:3717 semapv:UnspecifiedMatching -OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:5993 semapv:UnspecifiedMatching -OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:IL1R1 semapv:UnspecifiedMatching -OMIM:147810 IL1R1 skos:exactMatch ncbigene:3554 semapv:UnspecifiedMatching -OMIM:147811 IL1R2 skos:exactMatch UMLS:C1416396 semapv:UnspecifiedMatching -OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:5994 semapv:UnspecifiedMatching -OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:IL1R2 semapv:UnspecifiedMatching -OMIM:147811 IL1R2 skos:exactMatch ncbigene:7850 semapv:UnspecifiedMatching -OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:5344 semapv:UnspecifiedMatching -OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:ICAM1 semapv:UnspecifiedMatching -OMIM:147840 ICAM1 skos:exactMatch ncbigene:3383 semapv:UnspecifiedMatching -OMIM:147850 IL5 skos:exactMatch hgnc.symbol:6016 semapv:UnspecifiedMatching -OMIM:147850 IL5 skos:exactMatch hgnc.symbol:IL5 semapv:UnspecifiedMatching -OMIM:147850 IL5 skos:exactMatch ncbigene:3567 semapv:UnspecifiedMatching -OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:6017 semapv:UnspecifiedMatching -OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:IL5RA semapv:UnspecifiedMatching -OMIM:147851 IL5RA skos:exactMatch ncbigene:3568 semapv:UnspecifiedMatching -OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:12780 semapv:UnspecifiedMatching -OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:WNT2 semapv:UnspecifiedMatching -OMIM:147870 WNT2 skos:exactMatch ncbigene:7472 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch UMLS:C1416409 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch UMLS:C3540094 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch UMLS:C3553493 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch hgnc.symbol:6019 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch hgnc.symbol:IL6R semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch ncbigene:3570 semapv:UnspecifiedMatching -OMIM:147890 MX2 skos:exactMatch hgnc.symbol:7533 semapv:UnspecifiedMatching -OMIM:147890 MX2 skos:exactMatch hgnc.symbol:MX2 semapv:UnspecifiedMatching -OMIM:147890 MX2 skos:exactMatch ncbigene:4600 semapv:UnspecifiedMatching -OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch Orphanet:1509 semapv:UnspecifiedMatching -OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching -OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch UMLS:C1868581 semapv:UnspecifiedMatching -OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:2883 semapv:UnspecifiedMatching -OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:DIO1 semapv:UnspecifiedMatching -OMIM:147892 DIO1 skos:exactMatch ncbigene:1733 semapv:UnspecifiedMatching -OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:6357 semapv:UnspecifiedMatching -OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:KLK1 semapv:UnspecifiedMatching -OMIM:147910 KLK1 skos:exactMatch ncbigene:3816 semapv:UnspecifiedMatching -OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:8948 semapv:UnspecifiedMatching -OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:SERPINA4 semapv:UnspecifiedMatching -OMIM:147935 SERPINA4 skos:exactMatch ncbigene:5267 semapv:UnspecifiedMatching -OMIM:147940 IAPP skos:exactMatch hgnc.symbol:5329 semapv:UnspecifiedMatching -OMIM:147940 IAPP skos:exactMatch hgnc.symbol:IAPP semapv:UnspecifiedMatching -OMIM:147940 IAPP skos:exactMatch ncbigene:3375 semapv:UnspecifiedMatching -OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:432 semapv:UnspecifiedMatching -OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching -OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching -OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:6363 semapv:UnspecifiedMatching -OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:KLK2 semapv:UnspecifiedMatching -OMIM:147960 KLK2 skos:exactMatch ncbigene:3817 semapv:UnspecifiedMatching -OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:6436 semapv:UnspecifiedMatching -OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:KRT19 semapv:UnspecifiedMatching -OMIM:148020 KRT19 skos:exactMatch ncbigene:3880 semapv:UnspecifiedMatching -OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:23604 semapv:UnspecifiedMatching -OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:KRTAP5-9 semapv:UnspecifiedMatching -OMIM:148021 KRTAP5-9 skos:exactMatch ncbigene:3846 semapv:UnspecifiedMatching -OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:23596 semapv:UnspecifiedMatching -OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:KRTAP5-1 semapv:UnspecifiedMatching -OMIM:148022 KRTAP5-1 skos:exactMatch ncbigene:387264 semapv:UnspecifiedMatching -OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:6421 semapv:UnspecifiedMatching -OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:KRT15 semapv:UnspecifiedMatching -OMIM:148030 KRT15 skos:exactMatch ncbigene:3866 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C0079295 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C0079299 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C0080333 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C0432316 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C1416742 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C1836284 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C3715082 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C4016235 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C4016236 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch UMLS:C4552092 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:6442 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:KRT5 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch ncbigene:3852 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch UMLS:C1416743 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:6443 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:KRT6A semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch ncbigene:3853 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch UMLS:C1416744 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:6444 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:KRT6B semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch ncbigene:3854 semapv:UnspecifiedMatching -OMIM:148043 KRT3 skos:exactMatch UMLS:C1416740 semapv:UnspecifiedMatching -OMIM:148043 KRT3 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching -OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:6440 semapv:UnspecifiedMatching -OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:KRT3 semapv:UnspecifiedMatching -OMIM:148043 KRT3 skos:exactMatch ncbigene:3850 semapv:UnspecifiedMatching -OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:6445 semapv:UnspecifiedMatching -OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:KRT7 semapv:UnspecifiedMatching -OMIM:148059 KRT7 skos:exactMatch ncbigene:3855 semapv:UnspecifiedMatching -OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:6446 semapv:UnspecifiedMatching -OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:KRT8 semapv:UnspecifiedMatching -OMIM:148060 KRT8 skos:exactMatch ncbigene:3856 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch UMLS:C1416716 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:6415 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:KRT13 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch ncbigene:3860 semapv:UnspecifiedMatching -OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:6416 semapv:UnspecifiedMatching -OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:KRT14 semapv:UnspecifiedMatching -OMIM:148066 KRT14 skos:exactMatch ncbigene:3861 semapv:UnspecifiedMatching -OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:6423 semapv:UnspecifiedMatching -OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:KRT16 semapv:UnspecifiedMatching -OMIM:148067 KRT16 skos:exactMatch ncbigene:3868 semapv:UnspecifiedMatching -OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:6427 semapv:UnspecifiedMatching -OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:KRT17 semapv:UnspecifiedMatching -OMIM:148069 KRT17 skos:exactMatch ncbigene:3872 semapv:UnspecifiedMatching -OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:6430 semapv:UnspecifiedMatching -OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:KRT18 semapv:UnspecifiedMatching -OMIM:148070 KRT18 skos:exactMatch ncbigene:3875 semapv:UnspecifiedMatching -OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:6413 semapv:UnspecifiedMatching -OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:KRT10 semapv:UnspecifiedMatching -OMIM:148080 KRT10 skos:exactMatch ncbigene:3858 semapv:UnspecifiedMatching -OMIM:148180 FGF7 skos:exactMatch UMLS:C0919507 semapv:UnspecifiedMatching -OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:3685 semapv:UnspecifiedMatching -OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:FGF7 semapv:UnspecifiedMatching -OMIM:148180 FGF7 skos:exactMatch ncbigene:2252 semapv:UnspecifiedMatching -OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching -OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching -OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:6388 semapv:UnspecifiedMatching -OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:KIF11 semapv:UnspecifiedMatching -OMIM:148760 KIF11 skos:exactMatch ncbigene:3832 semapv:UnspecifiedMatching -OMIM:149100 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching -OMIM:149200 bart-pumphrey syndrome skos:exactMatch Orphanet:2698 semapv:UnspecifiedMatching -OMIM:149200 bart-pumphrey syndrome skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching -OMIM:149400 hyperekplexia 1 skos:exactMatch Orphanet:3197 semapv:UnspecifiedMatching -OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C1835614 semapv:UnspecifiedMatching -OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C4551954 semapv:UnspecifiedMatching -OMIM:149750 LALBA skos:exactMatch hgnc.symbol:6480 semapv:UnspecifiedMatching -OMIM:149750 LALBA skos:exactMatch hgnc.symbol:LALBA semapv:UnspecifiedMatching -OMIM:149750 LALBA skos:exactMatch ncbigene:3906 semapv:UnspecifiedMatching -OMIM:150000 LDHA skos:exactMatch hgnc.symbol:6535 semapv:UnspecifiedMatching -OMIM:150000 LDHA skos:exactMatch hgnc.symbol:LDHA semapv:UnspecifiedMatching -OMIM:150000 LDHA skos:exactMatch ncbigene:3939 semapv:UnspecifiedMatching -OMIM:150100 LDHB skos:exactMatch hgnc.symbol:6541 semapv:UnspecifiedMatching -OMIM:150100 LDHB skos:exactMatch hgnc.symbol:LDHB semapv:UnspecifiedMatching -OMIM:150100 LDHB skos:exactMatch ncbigene:3945 semapv:UnspecifiedMatching -OMIM:150150 LDHC skos:exactMatch hgnc.symbol:6544 semapv:UnspecifiedMatching -OMIM:150150 LDHC skos:exactMatch hgnc.symbol:LDHC semapv:UnspecifiedMatching -OMIM:150150 LDHC skos:exactMatch ncbigene:3948 semapv:UnspecifiedMatching -OMIM:150200 CSH1 skos:exactMatch UMLS:C1413752 semapv:UnspecifiedMatching -OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:2440 semapv:UnspecifiedMatching -OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:CSH1 semapv:UnspecifiedMatching -OMIM:150200 CSH1 skos:exactMatch ncbigene:1442 semapv:UnspecifiedMatching -OMIM:150205 LPO skos:exactMatch hgnc.symbol:6678 semapv:UnspecifiedMatching -OMIM:150205 LPO skos:exactMatch hgnc.symbol:LPO semapv:UnspecifiedMatching -OMIM:150205 LPO skos:exactMatch ncbigene:4025 semapv:UnspecifiedMatching -OMIM:150210 LTF skos:exactMatch hgnc.symbol:6720 semapv:UnspecifiedMatching -OMIM:150210 LTF skos:exactMatch hgnc.symbol:LTF semapv:UnspecifiedMatching -OMIM:150210 LTF skos:exactMatch ncbigene:4057 semapv:UnspecifiedMatching -OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch Orphanet:502 semapv:UnspecifiedMatching -OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch UMLS:C0023003 semapv:UnspecifiedMatching -OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:6486 semapv:UnspecifiedMatching -OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:LAMB1 semapv:UnspecifiedMatching -OMIM:150240 LAMB1 skos:exactMatch ncbigene:3912 semapv:UnspecifiedMatching -OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:6492 semapv:UnspecifiedMatching -OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:LAMC1 semapv:UnspecifiedMatching -OMIM:150290 LAMC1 skos:exactMatch ncbigene:3915 semapv:UnspecifiedMatching -OMIM:150292 LAMC2 skos:exactMatch hgnc.symbol:6493 semapv:UnspecifiedMatching -OMIM:150292 LAMC2 skos:exactMatch hgnc.symbol:LAMC2 semapv:UnspecifiedMatching -OMIM:150292 LAMC2 skos:exactMatch ncbigene:3918 semapv:UnspecifiedMatching -OMIM:150310 LAMB3 skos:exactMatch hgnc.symbol:6490 semapv:UnspecifiedMatching -OMIM:150310 LAMB3 skos:exactMatch hgnc.symbol:LAMB3 semapv:UnspecifiedMatching -OMIM:150310 LAMB3 skos:exactMatch ncbigene:3914 semapv:UnspecifiedMatching -OMIM:150320 LAMA1 skos:exactMatch hgnc.symbol:6481 semapv:UnspecifiedMatching -OMIM:150320 LAMA1 skos:exactMatch hgnc.symbol:LAMA1 semapv:UnspecifiedMatching -OMIM:150320 LAMA1 skos:exactMatch ncbigene:284217 semapv:UnspecifiedMatching -OMIM:150325 LAMB2 skos:exactMatch hgnc.symbol:6487 semapv:UnspecifiedMatching -OMIM:150325 LAMB2 skos:exactMatch hgnc.symbol:LAMB2 semapv:UnspecifiedMatching -OMIM:150325 LAMB2 skos:exactMatch ncbigene:3913 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C0033300 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C0410190 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C0796031 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1416877 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1720860 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1854154 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C1857829 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C2750785 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C4016241 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C4016243 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch UMLS:C5399785 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch hgnc.symbol:6636 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch hgnc.symbol:LMNA semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch ncbigene:4000 semapv:UnspecifiedMatching -OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:6637 semapv:UnspecifiedMatching -OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:LMNB1 semapv:UnspecifiedMatching -OMIM:150340 LMNB1 skos:exactMatch ncbigene:4001 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch UMLS:C1416878 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch UMLS:C3887501 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch UMLS:C4225289 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:6638 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:LMNB2 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch ncbigene:84823 semapv:UnspecifiedMatching -OMIM:150370 RPSA skos:exactMatch hgnc.symbol:6502 semapv:UnspecifiedMatching -OMIM:150370 RPSA skos:exactMatch hgnc.symbol:RPSA semapv:UnspecifiedMatching -OMIM:150370 RPSA skos:exactMatch ncbigene:3921 semapv:UnspecifiedMatching -OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:6714 semapv:UnspecifiedMatching -OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:LTBP1 semapv:UnspecifiedMatching -OMIM:150390 LTBP1 skos:exactMatch ncbigene:4052 semapv:UnspecifiedMatching -OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching -OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:6561 semapv:UnspecifiedMatching -OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:LGALS1 semapv:UnspecifiedMatching -OMIM:150570 LGALS1 skos:exactMatch ncbigene:3956 semapv:UnspecifiedMatching -OMIM:150571 LGALS2 skos:exactMatch hgnc.symbol:6562 semapv:UnspecifiedMatching -OMIM:150571 LGALS2 skos:exactMatch hgnc.symbol:LGALS2 semapv:UnspecifiedMatching -OMIM:150571 LGALS2 skos:exactMatch ncbigene:3957 semapv:UnspecifiedMatching -OMIM:150699 leiomyoma, uterine skos:exactMatch UMLS:C0042133 semapv:UnspecifiedMatching -OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 semapv:UnspecifiedMatching -OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching -OMIM:151100 leopard syndrome 1 skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching -OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C0175704 semapv:UnspecifiedMatching -OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching -OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch Orphanet:85166 semapv:UnspecifiedMatching -OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching -OMIM:151290 B3GAT1 skos:exactMatch hgnc.symbol:921 semapv:UnspecifiedMatching -OMIM:151290 B3GAT1 skos:exactMatch hgnc.symbol:B3GAT1 semapv:UnspecifiedMatching -OMIM:151290 B3GAT1 skos:exactMatch ncbigene:27087 semapv:UnspecifiedMatching -OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:6656 semapv:UnspecifiedMatching -OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:LNPEP semapv:UnspecifiedMatching -OMIM:151300 LNPEP skos:exactMatch ncbigene:4012 semapv:UnspecifiedMatching -OMIM:151310 LEUT skos:exactMatch ncbigene:3343 semapv:UnspecifiedMatching -OMIM:151350 LARS1 skos:exactMatch UMLS:C1416799 semapv:UnspecifiedMatching -OMIM:151350 LARS1 skos:exactMatch UMLS:C3809522 semapv:UnspecifiedMatching -OMIM:151350 LARS1 skos:exactMatch hgnc.symbol:6512 semapv:UnspecifiedMatching -OMIM:151350 LARS1 skos:exactMatch hgnc.symbol:LARS1 semapv:UnspecifiedMatching -OMIM:151350 LARS1 skos:exactMatch ncbigene:51520 semapv:UnspecifiedMatching -OMIM:151385 RUNX1 skos:exactMatch hgnc.symbol:10471 semapv:UnspecifiedMatching -OMIM:151385 RUNX1 skos:exactMatch hgnc.symbol:RUNX1 semapv:UnspecifiedMatching -OMIM:151385 RUNX1 skos:exactMatch ncbigene:861 semapv:UnspecifiedMatching -OMIM:151410 BCR skos:exactMatch UMLS:C0812385 semapv:UnspecifiedMatching -OMIM:151410 BCR skos:exactMatch hgnc.symbol:1014 semapv:UnspecifiedMatching -OMIM:151410 BCR skos:exactMatch hgnc.symbol:BCR semapv:UnspecifiedMatching -OMIM:151410 BCR skos:exactMatch ncbigene:613 semapv:UnspecifiedMatching -OMIM:151430 BCL2 skos:exactMatch hgnc.symbol:990 semapv:UnspecifiedMatching -OMIM:151430 BCL2 skos:exactMatch hgnc.symbol:BCL2 semapv:UnspecifiedMatching -OMIM:151430 BCL2 skos:exactMatch ncbigene:596 semapv:UnspecifiedMatching -OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:6734 semapv:UnspecifiedMatching -OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:LYL1 semapv:UnspecifiedMatching -OMIM:151440 LYL1 skos:exactMatch ncbigene:4066 semapv:UnspecifiedMatching -OMIM:151441 BCL5 skos:exactMatch ncbigene:603 semapv:UnspecifiedMatching -OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:6510 semapv:UnspecifiedMatching -OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:STMN1 semapv:UnspecifiedMatching -OMIM:151442 STMN1 skos:exactMatch ncbigene:3925 semapv:UnspecifiedMatching -OMIM:151443 LIFR skos:exactMatch hgnc.symbol:6597 semapv:UnspecifiedMatching -OMIM:151443 LIFR skos:exactMatch hgnc.symbol:LIFR semapv:UnspecifiedMatching -OMIM:151443 LIFR skos:exactMatch ncbigene:3977 semapv:UnspecifiedMatching -OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:3612 semapv:UnspecifiedMatching -OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:FCER2 semapv:UnspecifiedMatching -OMIM:151445 FCER2 skos:exactMatch ncbigene:2208 semapv:UnspecifiedMatching -OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:9666 semapv:UnspecifiedMatching -OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:PTPRC semapv:UnspecifiedMatching -OMIM:151460 PTPRC skos:exactMatch ncbigene:5788 semapv:UnspecifiedMatching -OMIM:151510 ITGAX skos:exactMatch hgnc.symbol:6152 semapv:UnspecifiedMatching -OMIM:151510 ITGAX skos:exactMatch hgnc.symbol:ITGAX semapv:UnspecifiedMatching -OMIM:151510 ITGAX skos:exactMatch ncbigene:3687 semapv:UnspecifiedMatching -OMIM:151520 LTK skos:exactMatch hgnc.symbol:6721 semapv:UnspecifiedMatching -OMIM:151520 LTK skos:exactMatch hgnc.symbol:LTK semapv:UnspecifiedMatching -OMIM:151520 LTK skos:exactMatch ncbigene:4058 semapv:UnspecifiedMatching -OMIM:151523 CD37 skos:exactMatch hgnc.symbol:1666 semapv:UnspecifiedMatching -OMIM:151523 CD37 skos:exactMatch hgnc.symbol:CD37 semapv:UnspecifiedMatching -OMIM:151523 CD37 skos:exactMatch ncbigene:951 semapv:UnspecifiedMatching -OMIM:151525 CD53 skos:exactMatch hgnc.symbol:1686 semapv:UnspecifiedMatching -OMIM:151525 CD53 skos:exactMatch hgnc.symbol:CD53 semapv:UnspecifiedMatching -OMIM:151525 CD53 skos:exactMatch ncbigene:963 semapv:UnspecifiedMatching -OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:500 semapv:UnspecifiedMatching -OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:ANPEP semapv:UnspecifiedMatching -OMIM:151530 ANPEP skos:exactMatch ncbigene:290 semapv:UnspecifiedMatching -OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:6710 semapv:UnspecifiedMatching -OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:LTA4H semapv:UnspecifiedMatching -OMIM:151570 LTA4H skos:exactMatch ncbigene:4048 semapv:UnspecifiedMatching -OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch Orphanet:2387 semapv:UnspecifiedMatching -OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch UMLS:C0544855 semapv:UnspecifiedMatching -OMIM:151625 LGTN skos:exactMatch hgnc.symbol:39494 semapv:UnspecifiedMatching -OMIM:151625 LGTN skos:exactMatch hgnc.symbol:LGTN semapv:UnspecifiedMatching -OMIM:151625 LGTN skos:exactMatch ncbigene:100529141 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch UMLS:C1416867 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch UMLS:C2675071 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch UMLS:C3151466 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch hgnc.symbol:6619 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch hgnc.symbol:LIPC semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch ncbigene:3990 semapv:UnspecifiedMatching -OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:6525 semapv:UnspecifiedMatching -OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:LCN1 semapv:UnspecifiedMatching -OMIM:151675 LCN1 skos:exactMatch ncbigene:3933 semapv:UnspecifiedMatching -OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:533 semapv:UnspecifiedMatching -OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:ANXA1 semapv:UnspecifiedMatching -OMIM:151690 ANXA1 skos:exactMatch ncbigene:301 semapv:UnspecifiedMatching -OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:537 semapv:UnspecifiedMatching -OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:ANXA2 semapv:UnspecifiedMatching -OMIM:151740 ANXA2 skos:exactMatch ncbigene:302 semapv:UnspecifiedMatching -OMIM:151750 LIPE skos:exactMatch hgnc.symbol:6621 semapv:UnspecifiedMatching -OMIM:151750 LIPE skos:exactMatch hgnc.symbol:LIPE semapv:UnspecifiedMatching -OMIM:151750 LIPE skos:exactMatch ncbigene:3991 semapv:UnspecifiedMatching -OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch Orphanet:2398 semapv:UnspecifiedMatching -OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch UMLS:C0023804 semapv:UnspecifiedMatching -OMIM:151990 LBP skos:exactMatch hgnc.symbol:6517 semapv:UnspecifiedMatching -OMIM:151990 LBP skos:exactMatch hgnc.symbol:LBP semapv:UnspecifiedMatching -OMIM:151990 LBP skos:exactMatch ncbigene:3929 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch UMLS:C0065058 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch UMLS:C1835362 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch UMLS:C4016245 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch UMLS:C4016246 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch UMLS:C5436941 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch hgnc.symbol:6667 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch hgnc.symbol:LPA semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch ncbigene:4018 semapv:UnspecifiedMatching -OMIM:152310 TFPI skos:exactMatch hgnc.symbol:11760 semapv:UnspecifiedMatching -OMIM:152310 TFPI skos:exactMatch hgnc.symbol:TFPI semapv:UnspecifiedMatching -OMIM:152310 TFPI skos:exactMatch ncbigene:7035 semapv:UnspecifiedMatching -OMIM:152390 ALOX5 skos:exactMatch hgnc.symbol:435 semapv:UnspecifiedMatching -OMIM:152390 ALOX5 skos:exactMatch hgnc.symbol:ALOX5 semapv:UnspecifiedMatching -OMIM:152390 ALOX5 skos:exactMatch ncbigene:240 semapv:UnspecifiedMatching -OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:429 semapv:UnspecifiedMatching -OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:ALOX12 semapv:UnspecifiedMatching -OMIM:152391 ALOX12 skos:exactMatch ncbigene:239 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch UMLS:C1332082 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch UMLS:C5193165 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:433 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:ALOX15 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch ncbigene:246 semapv:UnspecifiedMatching -OMIM:152424 locus control region, beta skos:exactMatch ncbigene:109580095 semapv:UnspecifiedMatching -OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:3569 semapv:UnspecifiedMatching -OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:ACSL1 semapv:UnspecifiedMatching -OMIM:152425 ACSL1 skos:exactMatch ncbigene:2180 semapv:UnspecifiedMatching -OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:6251 semapv:UnspecifiedMatching -OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:KCNH2 semapv:UnspecifiedMatching -OMIM:152427 KCNH2 skos:exactMatch ncbigene:3757 semapv:UnspecifiedMatching -OMIM:152445 LOR skos:exactMatch hgnc.symbol:6663 semapv:UnspecifiedMatching -OMIM:152445 LOR skos:exactMatch hgnc.symbol:LORICRIN semapv:UnspecifiedMatching -OMIM:152445 LOR skos:exactMatch ncbigene:4014 semapv:UnspecifiedMatching -OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:4055 semapv:UnspecifiedMatching -OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:XRCC6 semapv:UnspecifiedMatching -OMIM:152690 XRCC6 skos:exactMatch ncbigene:2547 semapv:UnspecifiedMatching -OMIM:152700 systemic lupus erythematosus skos:exactMatch UMLS:C0024141 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch UMLS:C1415169 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch UMLS:C4016249 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:4419 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:GNRH1 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch ncbigene:2796 semapv:UnspecifiedMatching -OMIM:152780 LHB skos:exactMatch hgnc.symbol:6584 semapv:UnspecifiedMatching -OMIM:152780 LHB skos:exactMatch hgnc.symbol:LHB semapv:UnspecifiedMatching -OMIM:152780 LHB skos:exactMatch ncbigene:3972 semapv:UnspecifiedMatching -OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:6585 semapv:UnspecifiedMatching -OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:LHCGR semapv:UnspecifiedMatching -OMIM:152790 LHCGR skos:exactMatch ncbigene:3973 semapv:UnspecifiedMatching -OMIM:153100 lymphatic malformation 1 skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching -OMIM:153100 lymphatic malformation 1 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching -OMIM:153240 SELL skos:exactMatch hgnc.symbol:10720 semapv:UnspecifiedMatching -OMIM:153240 SELL skos:exactMatch hgnc.symbol:SELL semapv:UnspecifiedMatching -OMIM:153240 SELL skos:exactMatch ncbigene:6402 semapv:UnspecifiedMatching -OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:11923 semapv:UnspecifiedMatching -OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:TNFRSF8 semapv:UnspecifiedMatching -OMIM:153243 TNFRSF8 skos:exactMatch ncbigene:943 semapv:UnspecifiedMatching -OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:6551 semapv:UnspecifiedMatching -OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:LEF1 semapv:UnspecifiedMatching -OMIM:153245 LEF1 skos:exactMatch ncbigene:51176 semapv:UnspecifiedMatching -OMIM:153310 CLC skos:exactMatch hgnc.symbol:2014 semapv:UnspecifiedMatching -OMIM:153310 CLC skos:exactMatch hgnc.symbol:CLC semapv:UnspecifiedMatching -OMIM:153310 CLC skos:exactMatch ncbigene:1178 semapv:UnspecifiedMatching -OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:6499 semapv:UnspecifiedMatching -OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:LAMP1 semapv:UnspecifiedMatching -OMIM:153330 LAMP1 skos:exactMatch ncbigene:3916 semapv:UnspecifiedMatching -OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:6476 semapv:UnspecifiedMatching -OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:LAG3 semapv:UnspecifiedMatching -OMIM:153337 LAG3 skos:exactMatch ncbigene:3902 semapv:UnspecifiedMatching -OMIM:153340 CD5 skos:exactMatch hgnc.symbol:1685 semapv:UnspecifiedMatching -OMIM:153340 CD5 skos:exactMatch hgnc.symbol:CD5 semapv:UnspecifiedMatching -OMIM:153340 CD5 skos:exactMatch ncbigene:921 semapv:UnspecifiedMatching -OMIM:153370 ITGAL skos:exactMatch hgnc.symbol:6148 semapv:UnspecifiedMatching -OMIM:153370 ITGAL skos:exactMatch hgnc.symbol:ITGAL semapv:UnspecifiedMatching -OMIM:153370 ITGAL skos:exactMatch ncbigene:3683 semapv:UnspecifiedMatching -OMIM:153380 lymphocyte cytosol polypeptide, 20-kd skos:exactMatch ncbigene:7938 semapv:UnspecifiedMatching -OMIM:153390 LCK skos:exactMatch hgnc.symbol:6524 semapv:UnspecifiedMatching -OMIM:153390 LCK skos:exactMatch hgnc.symbol:LCK semapv:UnspecifiedMatching -OMIM:153390 LCK skos:exactMatch ncbigene:3932 semapv:UnspecifiedMatching -OMIM:153420 CD58 skos:exactMatch UMLS:C1332715 semapv:UnspecifiedMatching -OMIM:153420 CD58 skos:exactMatch hgnc.symbol:1688 semapv:UnspecifiedMatching -OMIM:153420 CD58 skos:exactMatch hgnc.symbol:CD58 semapv:UnspecifiedMatching -OMIM:153420 CD58 skos:exactMatch ncbigene:965 semapv:UnspecifiedMatching -OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:6528 semapv:UnspecifiedMatching -OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:LCP1 semapv:UnspecifiedMatching -OMIM:153430 LCP1 skos:exactMatch ncbigene:3936 semapv:UnspecifiedMatching -OMIM:153432 LSP1 skos:exactMatch UMLS:C1416925 semapv:UnspecifiedMatching -OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:6707 semapv:UnspecifiedMatching -OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:LSP1 semapv:UnspecifiedMatching -OMIM:153432 LSP1 skos:exactMatch ncbigene:4046 semapv:UnspecifiedMatching -OMIM:153435 LAKL skos:exactMatch ncbigene:3905 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch UMLS:C0812308 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch UMLS:C1835223 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch UMLS:C2750103 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch hgnc.symbol:6709 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch hgnc.symbol:LTA semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch ncbigene:4049 semapv:UnspecifiedMatching -OMIM:153450 LYZ skos:exactMatch hgnc.symbol:6740 semapv:UnspecifiedMatching -OMIM:153450 LYZ skos:exactMatch hgnc.symbol:LYZ semapv:UnspecifiedMatching -OMIM:153450 LYZ skos:exactMatch ncbigene:4069 semapv:UnspecifiedMatching -OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:9081 semapv:UnspecifiedMatching -OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:PLOD1 semapv:UnspecifiedMatching -OMIM:153454 PLOD1 skos:exactMatch ncbigene:5351 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch UMLS:C1334349 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch UMLS:C4016254 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch UMLS:C4284414 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch hgnc.symbol:6664 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch hgnc.symbol:LOX semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch ncbigene:4015 semapv:UnspecifiedMatching -OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:6665 semapv:UnspecifiedMatching -OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:LOXL1 semapv:UnspecifiedMatching -OMIM:153456 LOXL1 skos:exactMatch ncbigene:4016 semapv:UnspecifiedMatching -OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch Orphanet:33226 semapv:UnspecifiedMatching -OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch UMLS:C1835192 semapv:UnspecifiedMatching -OMIM:153615 CAPG skos:exactMatch hgnc.symbol:1474 semapv:UnspecifiedMatching -OMIM:153615 CAPG skos:exactMatch hgnc.symbol:CAPG semapv:UnspecifiedMatching -OMIM:153615 CAPG skos:exactMatch ncbigene:822 semapv:UnspecifiedMatching -OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:7228 semapv:UnspecifiedMatching -OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:MRC1 semapv:UnspecifiedMatching -OMIM:153618 MRC1 skos:exactMatch ncbigene:4360 semapv:UnspecifiedMatching -OMIM:153619 LGALS3 skos:exactMatch UMLS:C1416831 semapv:UnspecifiedMatching -OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:6563 semapv:UnspecifiedMatching -OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:LGALS3 semapv:UnspecifiedMatching -OMIM:153619 LGALS3 skos:exactMatch ncbigene:3958 semapv:UnspecifiedMatching -OMIM:153620 MIF skos:exactMatch hgnc.symbol:7097 semapv:UnspecifiedMatching -OMIM:153620 MIF skos:exactMatch hgnc.symbol:MIF semapv:UnspecifiedMatching -OMIM:153620 MIF skos:exactMatch ncbigene:4282 semapv:UnspecifiedMatching -OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:7376 semapv:UnspecifiedMatching -OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:MSR1 semapv:UnspecifiedMatching -OMIM:153622 MSR1 skos:exactMatch ncbigene:4481 semapv:UnspecifiedMatching -OMIM:153634 CD68 skos:exactMatch hgnc.symbol:1693 semapv:UnspecifiedMatching -OMIM:153634 CD68 skos:exactMatch hgnc.symbol:CD68 semapv:UnspecifiedMatching -OMIM:153634 CD68 skos:exactMatch ncbigene:968 semapv:UnspecifiedMatching -OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching -OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:8014 semapv:UnspecifiedMatching -OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:YBX1 semapv:UnspecifiedMatching -OMIM:154030 YBX1 skos:exactMatch ncbigene:4904 semapv:UnspecifiedMatching -OMIM:154040 NELFE skos:exactMatch hgnc.symbol:13974 semapv:UnspecifiedMatching -OMIM:154040 NELFE skos:exactMatch hgnc.symbol:NELFE semapv:UnspecifiedMatching -OMIM:154040 NELFE skos:exactMatch ncbigene:7936 semapv:UnspecifiedMatching -OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:6610 semapv:UnspecifiedMatching -OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:LIM2 semapv:UnspecifiedMatching -OMIM:154045 LIM2 skos:exactMatch ncbigene:3982 semapv:UnspecifiedMatching -OMIM:154050 MIP skos:exactMatch hgnc.symbol:7103 semapv:UnspecifiedMatching -OMIM:154050 MIP skos:exactMatch hgnc.symbol:MIP semapv:UnspecifiedMatching -OMIM:154050 MIP skos:exactMatch ncbigene:4284 semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch UMLS:C1417088 semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:6971 semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:MDH2 semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch ncbigene:4191 semapv:UnspecifiedMatching -OMIM:154200 MDH1 skos:exactMatch UMLS:C1417087 semapv:UnspecifiedMatching -OMIM:154200 MDH1 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching -OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:6970 semapv:UnspecifiedMatching -OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:MDH1 semapv:UnspecifiedMatching -OMIM:154200 MDH1 skos:exactMatch ncbigene:4190 semapv:UnspecifiedMatching -OMIM:154235 MAK skos:exactMatch hgnc.symbol:6816 semapv:UnspecifiedMatching -OMIM:154235 MAK skos:exactMatch hgnc.symbol:MAK semapv:UnspecifiedMatching -OMIM:154235 MAK skos:exactMatch ncbigene:4117 semapv:UnspecifiedMatching -OMIM:154250 ME1 skos:exactMatch hgnc.symbol:6983 semapv:UnspecifiedMatching -OMIM:154250 ME1 skos:exactMatch hgnc.symbol:ME1 semapv:UnspecifiedMatching -OMIM:154250 ME1 skos:exactMatch ncbigene:4199 semapv:UnspecifiedMatching -OMIM:154270 ME2 skos:exactMatch hgnc.symbol:6984 semapv:UnspecifiedMatching -OMIM:154270 ME2 skos:exactMatch hgnc.symbol:ME2 semapv:UnspecifiedMatching -OMIM:154270 ME2 skos:exactMatch ncbigene:4200 semapv:UnspecifiedMatching -OMIM:154280 SAI1 skos:exactMatch ncbigene:6298 semapv:UnspecifiedMatching -OMIM:154360 MGAM skos:exactMatch hgnc.symbol:7043 semapv:UnspecifiedMatching -OMIM:154360 MGAM skos:exactMatch hgnc.symbol:MGAM semapv:UnspecifiedMatching -OMIM:154360 MGAM skos:exactMatch ncbigene:8972 semapv:UnspecifiedMatching -OMIM:154365 PSMC2 skos:exactMatch hgnc.symbol:9548 semapv:UnspecifiedMatching -OMIM:154365 PSMC2 skos:exactMatch hgnc.symbol:PSMC2 semapv:UnspecifiedMatching -OMIM:154365 PSMC2 skos:exactMatch ncbigene:5701 semapv:UnspecifiedMatching -OMIM:154500 treacher collins syndrome 1 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching -OMIM:154500 treacher collins syndrome 1 skos:exactMatch UMLS:C0242387 semapv:UnspecifiedMatching -OMIM:154540 M6PR skos:exactMatch hgnc.symbol:6752 semapv:UnspecifiedMatching -OMIM:154540 M6PR skos:exactMatch hgnc.symbol:M6PR semapv:UnspecifiedMatching -OMIM:154540 M6PR skos:exactMatch ncbigene:4074 semapv:UnspecifiedMatching -OMIM:154545 MBL2 skos:exactMatch hgnc.symbol:6922 semapv:UnspecifiedMatching -OMIM:154545 MBL2 skos:exactMatch hgnc.symbol:MBL2 semapv:UnspecifiedMatching -OMIM:154545 MBL2 skos:exactMatch ncbigene:4153 semapv:UnspecifiedMatching -OMIM:154550 MPI skos:exactMatch hgnc.symbol:7216 semapv:UnspecifiedMatching -OMIM:154550 MPI skos:exactMatch hgnc.symbol:MPI semapv:UnspecifiedMatching -OMIM:154550 MPI skos:exactMatch ncbigene:4351 semapv:UnspecifiedMatching -OMIM:154580 MAN2C1 skos:exactMatch hgnc.symbol:6827 semapv:UnspecifiedMatching -OMIM:154580 MAN2C1 skos:exactMatch hgnc.symbol:MAN2C1 semapv:UnspecifiedMatching -OMIM:154580 MAN2C1 skos:exactMatch ncbigene:4123 semapv:UnspecifiedMatching -OMIM:154582 MAN2A1 skos:exactMatch hgnc.symbol:6824 semapv:UnspecifiedMatching -OMIM:154582 MAN2A1 skos:exactMatch hgnc.symbol:MAN2A1 semapv:UnspecifiedMatching -OMIM:154582 MAN2A1 skos:exactMatch ncbigene:4124 semapv:UnspecifiedMatching -OMIM:154780 marshall syndrome skos:exactMatch Orphanet:560 semapv:UnspecifiedMatching -OMIM:154780 marshall syndrome skos:exactMatch UMLS:C0265235 semapv:UnspecifiedMatching -OMIM:154790 PI5 skos:exactMatch hgnc.symbol:8949 semapv:UnspecifiedMatching -OMIM:154790 PI5 skos:exactMatch hgnc.symbol:SERPINB5 semapv:UnspecifiedMatching -OMIM:154790 PI5 skos:exactMatch ncbigene:5268 semapv:UnspecifiedMatching -OMIM:154870 MGP skos:exactMatch hgnc.symbol:7060 semapv:UnspecifiedMatching -OMIM:154870 MGP skos:exactMatch hgnc.symbol:MGP semapv:UnspecifiedMatching -OMIM:154870 MGP skos:exactMatch ncbigene:4256 semapv:UnspecifiedMatching -OMIM:154950 MAX skos:exactMatch hgnc.symbol:6913 semapv:UnspecifiedMatching -OMIM:154950 MAX skos:exactMatch hgnc.symbol:MAX semapv:UnspecifiedMatching -OMIM:154950 MAX skos:exactMatch ncbigene:4149 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:850 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0340978 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0398641 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0403445 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1842035 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1854520 semapv:UnspecifiedMatching -OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:189 semapv:UnspecifiedMatching -OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:ADAM11 semapv:UnspecifiedMatching -OMIM:155120 ADAM11 skos:exactMatch ncbigene:4185 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251863 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251867 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch UMLS:C1334970 semapv:UnspecifiedMatching -OMIM:155540 MC3R skos:exactMatch hgnc.symbol:6931 semapv:UnspecifiedMatching -OMIM:155540 MC3R skos:exactMatch hgnc.symbol:MC3R semapv:UnspecifiedMatching -OMIM:155540 MC3R skos:exactMatch ncbigene:4159 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch UMLS:C1417064 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch UMLS:C5193151 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch UMLS:C5193166 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch UMLS:C5193167 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch hgnc.symbol:6932 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch hgnc.symbol:MC4R semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch ncbigene:4160 semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch UMLS:C1420066 semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch hgnc.symbol:10880 semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch hgnc.symbol:PMEL semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch ncbigene:6490 semapv:UnspecifiedMatching -OMIM:155555 MC1R skos:exactMatch hgnc.symbol:6929 semapv:UnspecifiedMatching -OMIM:155555 MC1R skos:exactMatch hgnc.symbol:MC1R semapv:UnspecifiedMatching -OMIM:155555 MC1R skos:exactMatch ncbigene:4157 semapv:UnspecifiedMatching -OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:4602 semapv:UnspecifiedMatching -OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:CXCL1 semapv:UnspecifiedMatching -OMIM:155730 CXCL1 skos:exactMatch ncbigene:2919 semapv:UnspecifiedMatching -OMIM:155735 MCAM skos:exactMatch hgnc.symbol:6934 semapv:UnspecifiedMatching -OMIM:155735 MCAM skos:exactMatch hgnc.symbol:MCAM semapv:UnspecifiedMatching -OMIM:155735 MCAM skos:exactMatch ncbigene:4162 semapv:UnspecifiedMatching -OMIM:155740 CD63 skos:exactMatch hgnc.symbol:1692 semapv:UnspecifiedMatching -OMIM:155740 CD63 skos:exactMatch hgnc.symbol:CD63 semapv:UnspecifiedMatching -OMIM:155740 CD63 skos:exactMatch ncbigene:967 semapv:UnspecifiedMatching -OMIM:155750 MELTF skos:exactMatch hgnc.symbol:7037 semapv:UnspecifiedMatching -OMIM:155750 MELTF skos:exactMatch hgnc.symbol:MELTF semapv:UnspecifiedMatching -OMIM:155750 MELTF skos:exactMatch ncbigene:4241 semapv:UnspecifiedMatching -OMIM:155760 ACAN skos:exactMatch hgnc.symbol:319 semapv:UnspecifiedMatching -OMIM:155760 ACAN skos:exactMatch hgnc.symbol:ACAN semapv:UnspecifiedMatching -OMIM:155760 ACAN skos:exactMatch ncbigene:176 semapv:UnspecifiedMatching -OMIM:155950 melorheostosis, isolated skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching -OMIM:155950 melorheostosis, isolated skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching -OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:7203 semapv:UnspecifiedMatching -OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:CD200 semapv:UnspecifiedMatching -OMIM:155970 MOX2 skos:exactMatch ncbigene:4345 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch UMLS:C1417217 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch hgnc.symbol:7180 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch hgnc.symbol:MN1 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch ncbigene:4330 semapv:UnspecifiedMatching -OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:6482 semapv:UnspecifiedMatching -OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:LAMA2 semapv:UnspecifiedMatching -OMIM:156225 LAMA2 skos:exactMatch ncbigene:3908 semapv:UnspecifiedMatching -OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching -OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch UMLS:C1835007 semapv:UnspecifiedMatching -OMIM:156349 MT1B skos:exactMatch hgnc.symbol:7394 semapv:UnspecifiedMatching -OMIM:156349 MT1B skos:exactMatch hgnc.symbol:MT1B semapv:UnspecifiedMatching -OMIM:156349 MT1B skos:exactMatch ncbigene:4490 semapv:UnspecifiedMatching -OMIM:156350 MT1A skos:exactMatch hgnc.symbol:7393 semapv:UnspecifiedMatching -OMIM:156350 MT1A skos:exactMatch hgnc.symbol:MT1A semapv:UnspecifiedMatching -OMIM:156350 MT1A skos:exactMatch ncbigene:4489 semapv:UnspecifiedMatching -OMIM:156351 MT1E skos:exactMatch hgnc.symbol:7397 semapv:UnspecifiedMatching -OMIM:156351 MT1E skos:exactMatch hgnc.symbol:MT1E semapv:UnspecifiedMatching -OMIM:156351 MT1E skos:exactMatch ncbigene:4493 semapv:UnspecifiedMatching -OMIM:156352 MT1F skos:exactMatch hgnc.symbol:7398 semapv:UnspecifiedMatching -OMIM:156352 MT1F skos:exactMatch hgnc.symbol:MT1F semapv:UnspecifiedMatching -OMIM:156352 MT1F skos:exactMatch ncbigene:4494 semapv:UnspecifiedMatching -OMIM:156353 MT1G skos:exactMatch hgnc.symbol:7399 semapv:UnspecifiedMatching -OMIM:156353 MT1G skos:exactMatch hgnc.symbol:MT1G semapv:UnspecifiedMatching -OMIM:156353 MT1G skos:exactMatch ncbigene:4495 semapv:UnspecifiedMatching -OMIM:156354 MT1H skos:exactMatch hgnc.symbol:7400 semapv:UnspecifiedMatching -OMIM:156354 MT1H skos:exactMatch hgnc.symbol:MT1H semapv:UnspecifiedMatching -OMIM:156354 MT1H skos:exactMatch ncbigene:4496 semapv:UnspecifiedMatching -OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:7401 semapv:UnspecifiedMatching -OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:MT1IP semapv:UnspecifiedMatching -OMIM:156355 MT1IP skos:exactMatch ncbigene:644314 semapv:UnspecifiedMatching -OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:7402 semapv:UnspecifiedMatching -OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:MT1JP semapv:UnspecifiedMatching -OMIM:156356 MT1JP skos:exactMatch ncbigene:4498 semapv:UnspecifiedMatching -OMIM:156357 MT1K skos:exactMatch hgnc.symbol:14296 semapv:UnspecifiedMatching -OMIM:156357 MT1K skos:exactMatch hgnc.symbol:MT1M semapv:UnspecifiedMatching -OMIM:156357 MT1K skos:exactMatch ncbigene:4499 semapv:UnspecifiedMatching -OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:7404 semapv:UnspecifiedMatching -OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:MT1L semapv:UnspecifiedMatching -OMIM:156358 MT1LP skos:exactMatch ncbigene:4500 semapv:UnspecifiedMatching -OMIM:156359 MT1X skos:exactMatch hgnc.symbol:7405 semapv:UnspecifiedMatching -OMIM:156359 MT1X skos:exactMatch hgnc.symbol:MT1X semapv:UnspecifiedMatching -OMIM:156359 MT1X skos:exactMatch ncbigene:4501 semapv:UnspecifiedMatching -OMIM:156360 MT2A skos:exactMatch hgnc.symbol:7406 semapv:UnspecifiedMatching -OMIM:156360 MT2A skos:exactMatch hgnc.symbol:MT2A semapv:UnspecifiedMatching -OMIM:156360 MT2A skos:exactMatch ncbigene:4502 semapv:UnspecifiedMatching -OMIM:156490 NME1 skos:exactMatch hgnc.symbol:7849 semapv:UnspecifiedMatching -OMIM:156490 NME1 skos:exactMatch hgnc.symbol:NME1 semapv:UnspecifiedMatching -OMIM:156490 NME1 skos:exactMatch ncbigene:4830 semapv:UnspecifiedMatching -OMIM:156491 NME2 skos:exactMatch hgnc.symbol:7850 semapv:UnspecifiedMatching -OMIM:156491 NME2 skos:exactMatch hgnc.symbol:NME2 semapv:UnspecifiedMatching -OMIM:156491 NME2 skos:exactMatch ncbigene:4831 semapv:UnspecifiedMatching -OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:6916 semapv:UnspecifiedMatching -OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:MBD1 semapv:UnspecifiedMatching -OMIM:156535 MBD1 skos:exactMatch ncbigene:4152 semapv:UnspecifiedMatching -OMIM:156540 MTAP skos:exactMatch hgnc.symbol:7413 semapv:UnspecifiedMatching -OMIM:156540 MTAP skos:exactMatch hgnc.symbol:MTAP semapv:UnspecifiedMatching -OMIM:156540 MTAP skos:exactMatch ncbigene:4507 semapv:UnspecifiedMatching -OMIM:156550 kniest dysplasia skos:exactMatch Orphanet:485 semapv:UnspecifiedMatching -OMIM:156550 kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching -OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:6898 semapv:UnspecifiedMatching -OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:MARS1 semapv:UnspecifiedMatching -OMIM:156560 MARS1 skos:exactMatch ncbigene:4141 semapv:UnspecifiedMatching -OMIM:156565 MPG skos:exactMatch hgnc.symbol:7211 semapv:UnspecifiedMatching -OMIM:156565 MPG skos:exactMatch hgnc.symbol:MPG semapv:UnspecifiedMatching -OMIM:156565 MPG skos:exactMatch ncbigene:4350 semapv:UnspecifiedMatching -OMIM:156569 MGMT skos:exactMatch hgnc.symbol:7059 semapv:UnspecifiedMatching -OMIM:156569 MGMT skos:exactMatch hgnc.symbol:MGMT semapv:UnspecifiedMatching -OMIM:156569 MGMT skos:exactMatch ncbigene:4255 semapv:UnspecifiedMatching -OMIM:156570 MTR skos:exactMatch hgnc.symbol:7468 semapv:UnspecifiedMatching -OMIM:156570 MTR skos:exactMatch hgnc.symbol:MTR semapv:UnspecifiedMatching -OMIM:156570 MTR skos:exactMatch ncbigene:4548 semapv:UnspecifiedMatching -OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:7033 semapv:UnspecifiedMatching -OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:MFAP2 semapv:UnspecifiedMatching -OMIM:156790 MFAP2 skos:exactMatch ncbigene:4237 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C1417172 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch UMLS:C4310625 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch hgnc.symbol:7105 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch hgnc.symbol:MITF semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch ncbigene:4286 semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch UMLS:C1417004 semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:6836 semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:MAP1B semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch ncbigene:4131 semapv:UnspecifiedMatching -OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:6839 semapv:UnspecifiedMatching -OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:MAP2 semapv:UnspecifiedMatching -OMIM:157130 MAP2 skos:exactMatch ncbigene:4133 semapv:UnspecifiedMatching -OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:6862 semapv:UnspecifiedMatching -OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:MAP4 semapv:UnspecifiedMatching -OMIM:157132 MAP4 skos:exactMatch ncbigene:4134 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C1446659 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C1850077 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch hgnc.symbol:6893 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch hgnc.symbol:MAPT semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch ncbigene:4137 semapv:UnspecifiedMatching -OMIM:157145 MSMB skos:exactMatch hgnc.symbol:7372 semapv:UnspecifiedMatching -OMIM:157145 MSMB skos:exactMatch hgnc.symbol:MSMB semapv:UnspecifiedMatching -OMIM:157145 MSMB skos:exactMatch ncbigene:4477 semapv:UnspecifiedMatching -OMIM:157147 MTTP skos:exactMatch hgnc.symbol:7467 semapv:UnspecifiedMatching -OMIM:157147 MTTP skos:exactMatch hgnc.symbol:MTTP semapv:UnspecifiedMatching -OMIM:157147 MTTP skos:exactMatch ncbigene:4547 semapv:UnspecifiedMatching -OMIM:157560 minisatellite 33.6 skos:exactMatch UMLS:C1834872 semapv:UnspecifiedMatching -OMIM:157570 minisatellite 33.15 skos:exactMatch UMLS:C1834871 semapv:UnspecifiedMatching -OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching -OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch UMLS:C1834846 semapv:UnspecifiedMatching -OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:7707 semapv:UnspecifiedMatching -OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:NDUFS1 semapv:UnspecifiedMatching -OMIM:157655 NDUFS1 skos:exactMatch ncbigene:4719 semapv:UnspecifiedMatching -OMIM:157660 RMRP skos:exactMatch hgnc.symbol:10031 semapv:UnspecifiedMatching -OMIM:157660 RMRP skos:exactMatch hgnc.symbol:RMRP semapv:UnspecifiedMatching -OMIM:157660 RMRP skos:exactMatch ncbigene:6023 semapv:UnspecifiedMatching -OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:1727 semapv:UnspecifiedMatching -OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:CDC25C semapv:UnspecifiedMatching -OMIM:157680 CDC25C skos:exactMatch ncbigene:995 semapv:UnspecifiedMatching -OMIM:157700 mitral valve prolapse 1 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching -OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C0340364 semapv:UnspecifiedMatching -OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C1834819 semapv:UnspecifiedMatching -OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching -OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching -OMIM:157900 moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching -OMIM:157900 moebius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching -OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:9565 semapv:UnspecifiedMatching -OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:PSMD7 semapv:UnspecifiedMatching -OMIM:157970 PSMD7 skos:exactMatch ncbigene:5713 semapv:UnspecifiedMatching -OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:11026 semapv:UnspecifiedMatching -OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:SLC3A2 semapv:UnspecifiedMatching -OMIM:158070 SLC3A2 skos:exactMatch ncbigene:6520 semapv:UnspecifiedMatching -OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:10618 semapv:UnspecifiedMatching -OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:CCL2 semapv:UnspecifiedMatching -OMIM:158105 CCL2 skos:exactMatch ncbigene:6347 semapv:UnspecifiedMatching -OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:10634 semapv:UnspecifiedMatching -OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:CCL7 semapv:UnspecifiedMatching -OMIM:158106 CCL7 skos:exactMatch ncbigene:6354 semapv:UnspecifiedMatching -OMIM:158120 CD14 skos:exactMatch hgnc.symbol:1628 semapv:UnspecifiedMatching -OMIM:158120 CD14 skos:exactMatch hgnc.symbol:CD14 semapv:UnspecifiedMatching -OMIM:158120 CD14 skos:exactMatch ncbigene:929 semapv:UnspecifiedMatching -OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 semapv:UnspecifiedMatching -OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch UMLS:C0795830 semapv:UnspecifiedMatching -OMIM:158270 MLN skos:exactMatch hgnc.symbol:7141 semapv:UnspecifiedMatching -OMIM:158270 MLN skos:exactMatch hgnc.symbol:MLN semapv:UnspecifiedMatching -OMIM:158270 MLN skos:exactMatch ncbigene:4295 semapv:UnspecifiedMatching -OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch Orphanet:1839 semapv:UnspecifiedMatching -OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching -OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:7508 semapv:UnspecifiedMatching -OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:MUC1 semapv:UnspecifiedMatching -OMIM:158340 MUC1 skos:exactMatch ncbigene:4582 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch UMLS:C0919458 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:51 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:ABCC1 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch ncbigene:4363 semapv:UnspecifiedMatching -OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:7512 semapv:UnspecifiedMatching -OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:MUC2 semapv:UnspecifiedMatching -OMIM:158370 MUC2 skos:exactMatch ncbigene:4583 semapv:UnspecifiedMatching -OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:7513 semapv:UnspecifiedMatching -OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:MUC3A semapv:UnspecifiedMatching -OMIM:158371 MUC3A skos:exactMatch ncbigene:4584 semapv:UnspecifiedMatching -OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:7514 semapv:UnspecifiedMatching -OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:MUC4 semapv:UnspecifiedMatching -OMIM:158372 MUC4 skos:exactMatch ncbigene:4585 semapv:UnspecifiedMatching -OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:7515 semapv:UnspecifiedMatching -OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:MUC5AC semapv:UnspecifiedMatching -OMIM:158373 MUC5AC skos:exactMatch ncbigene:4586 semapv:UnspecifiedMatching -OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:7517 semapv:UnspecifiedMatching -OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:MUC6 semapv:UnspecifiedMatching -OMIM:158374 MUC6 skos:exactMatch ncbigene:4588 semapv:UnspecifiedMatching -OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:7518 semapv:UnspecifiedMatching -OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:MUC7 semapv:UnspecifiedMatching -OMIM:158375 MUC7 skos:exactMatch ncbigene:4589 semapv:UnspecifiedMatching -OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:10947 semapv:UnspecifiedMatching -OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:SLC20A2 semapv:UnspecifiedMatching -OMIM:158378 SLC20A2 skos:exactMatch ncbigene:6575 semapv:UnspecifiedMatching -OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:3499 semapv:UnspecifiedMatching -OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:EVI2A semapv:UnspecifiedMatching -OMIM:158380 EVI2A skos:exactMatch ncbigene:2123 semapv:UnspecifiedMatching -OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:3500 semapv:UnspecifiedMatching -OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:EVI2B semapv:UnspecifiedMatching -OMIM:158381 EVI2B skos:exactMatch ncbigene:2124 semapv:UnspecifiedMatching -OMIM:159350 MCC skos:exactMatch hgnc.symbol:6935 semapv:UnspecifiedMatching -OMIM:159350 MCC skos:exactMatch hgnc.symbol:MCC semapv:UnspecifiedMatching -OMIM:159350 MCC skos:exactMatch ncbigene:4163 semapv:UnspecifiedMatching -OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:7547 semapv:UnspecifiedMatching -OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:MYBL1 semapv:UnspecifiedMatching -OMIM:159405 MYBL1 skos:exactMatch ncbigene:4603 semapv:UnspecifiedMatching -OMIM:159430 MBP skos:exactMatch hgnc.symbol:6925 semapv:UnspecifiedMatching -OMIM:159430 MBP skos:exactMatch hgnc.symbol:MBP semapv:UnspecifiedMatching -OMIM:159430 MBP skos:exactMatch ncbigene:4155 semapv:UnspecifiedMatching -OMIM:159440 MPZ skos:exactMatch hgnc.symbol:7225 semapv:UnspecifiedMatching -OMIM:159440 MPZ skos:exactMatch hgnc.symbol:MPZ semapv:UnspecifiedMatching -OMIM:159440 MPZ skos:exactMatch ncbigene:4359 semapv:UnspecifiedMatching -OMIM:159460 MAG skos:exactMatch hgnc.symbol:6783 semapv:UnspecifiedMatching -OMIM:159460 MAG skos:exactMatch hgnc.symbol:MAG semapv:UnspecifiedMatching -OMIM:159460 MAG skos:exactMatch ncbigene:4099 semapv:UnspecifiedMatching -OMIM:159465 MOG skos:exactMatch hgnc.symbol:7197 semapv:UnspecifiedMatching -OMIM:159465 MOG skos:exactMatch hgnc.symbol:MOG semapv:UnspecifiedMatching -OMIM:159465 MOG skos:exactMatch ncbigene:4340 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch UMLS:C0812295 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch UMLS:C1327915 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch UMLS:C3277190 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch UMLS:C4016267 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch UMLS:C4016268 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch hgnc.symbol:7217 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch hgnc.symbol:MPL semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch ncbigene:4352 semapv:UnspecifiedMatching -OMIM:159540 LIF skos:exactMatch hgnc.symbol:6596 semapv:UnspecifiedMatching -OMIM:159540 LIF skos:exactMatch hgnc.symbol:LIF semapv:UnspecifiedMatching -OMIM:159540 LIF skos:exactMatch ncbigene:3976 semapv:UnspecifiedMatching -OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 semapv:UnspecifiedMatching -OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching -OMIM:159552 MCL1 skos:exactMatch UMLS:C1366587 semapv:UnspecifiedMatching -OMIM:159552 MCL1 skos:exactMatch UMLS:C1834590 semapv:UnspecifiedMatching -OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:6943 semapv:UnspecifiedMatching -OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:MCL1 semapv:UnspecifiedMatching -OMIM:159552 MCL1 skos:exactMatch ncbigene:4170 semapv:UnspecifiedMatching -OMIM:159553 MNDA skos:exactMatch hgnc.symbol:7183 semapv:UnspecifiedMatching -OMIM:159553 MNDA skos:exactMatch hgnc.symbol:MNDA semapv:UnspecifiedMatching -OMIM:159553 MNDA skos:exactMatch ncbigene:4332 semapv:UnspecifiedMatching -OMIM:159555 KMT2A skos:exactMatch UMLS:C0919528 semapv:UnspecifiedMatching -OMIM:159555 KMT2A skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching -OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:7132 semapv:UnspecifiedMatching -OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:KMT2A semapv:UnspecifiedMatching -OMIM:159555 KMT2A skos:exactMatch ncbigene:4297 semapv:UnspecifiedMatching -OMIM:159556 MLLT1 skos:exactMatch UMLS:C1334513 semapv:UnspecifiedMatching -OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:7134 semapv:UnspecifiedMatching -OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:MLLT1 semapv:UnspecifiedMatching -OMIM:159556 MLLT1 skos:exactMatch ncbigene:4298 semapv:UnspecifiedMatching -OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:7135 semapv:UnspecifiedMatching -OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:AFF1 semapv:UnspecifiedMatching -OMIM:159557 AFF1 skos:exactMatch ncbigene:4299 semapv:UnspecifiedMatching -OMIM:159558 MLLT3 skos:exactMatch UMLS:C1334515 semapv:UnspecifiedMatching -OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:7136 semapv:UnspecifiedMatching -OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:MLLT3 semapv:UnspecifiedMatching -OMIM:159558 MLLT3 skos:exactMatch ncbigene:4300 semapv:UnspecifiedMatching -OMIM:159559 AFDN skos:exactMatch hgnc.symbol:7137 semapv:UnspecifiedMatching -OMIM:159559 AFDN skos:exactMatch hgnc.symbol:AFDN semapv:UnspecifiedMatching -OMIM:159559 AFDN skos:exactMatch ncbigene:4301 semapv:UnspecifiedMatching -OMIM:159590 CD33 skos:exactMatch hgnc.symbol:1659 semapv:UnspecifiedMatching -OMIM:159590 CD33 skos:exactMatch hgnc.symbol:CD33 semapv:UnspecifiedMatching -OMIM:159590 CD33 skos:exactMatch ncbigene:945 semapv:UnspecifiedMatching -OMIM:159900 dystonia 11, myoclonic skos:exactMatch Orphanet:36899 semapv:UnspecifiedMatching -OMIM:159900 dystonia 11, myoclonic skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch UMLS:C1417574 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:7611 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:MYOD1 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch ncbigene:4654 semapv:UnspecifiedMatching -OMIM:159980 MYOG skos:exactMatch hgnc.symbol:7612 semapv:UnspecifiedMatching -OMIM:159980 MYOG skos:exactMatch hgnc.symbol:MYOG semapv:UnspecifiedMatching -OMIM:159980 MYOG skos:exactMatch ncbigene:4656 semapv:UnspecifiedMatching -OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:7565 semapv:UnspecifiedMatching -OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:MYF5 semapv:UnspecifiedMatching -OMIM:159990 MYF5 skos:exactMatch ncbigene:4617 semapv:UnspecifiedMatching -OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:7566 semapv:UnspecifiedMatching -OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:MYF6 semapv:UnspecifiedMatching -OMIM:159991 MYF6 skos:exactMatch ncbigene:4618 semapv:UnspecifiedMatching -OMIM:160000 MB skos:exactMatch hgnc.symbol:6915 semapv:UnspecifiedMatching -OMIM:160000 MB skos:exactMatch hgnc.symbol:MB semapv:UnspecifiedMatching -OMIM:160000 MB skos:exactMatch ncbigene:4151 semapv:UnspecifiedMatching -OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:37612 semapv:UnspecifiedMatching -OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:972 semapv:UnspecifiedMatching -OMIM:160120 episodic ataxia, iia 1 skos:exactMatch UMLS:C1719788 semapv:UnspecifiedMatching -OMIM:160700 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C1417541 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C3279790 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C3279791 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch UMLS:C4016269 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:7576 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:MYH6 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch ncbigene:4624 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C1417538 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C5193098 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:7573 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:MYH3 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch ncbigene:4621 semapv:UnspecifiedMatching -OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:7567 semapv:UnspecifiedMatching -OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:MYH1 semapv:UnspecifiedMatching -OMIM:160730 MYH1 skos:exactMatch ncbigene:4619 semapv:UnspecifiedMatching -OMIM:160740 MYH2 skos:exactMatch UMLS:C1417537 semapv:UnspecifiedMatching -OMIM:160740 MYH2 skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching -OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:7572 semapv:UnspecifiedMatching -OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:MYH2 semapv:UnspecifiedMatching -OMIM:160740 MYH2 skos:exactMatch ncbigene:4620 semapv:UnspecifiedMatching -OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:7578 semapv:UnspecifiedMatching -OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:MYH8 semapv:UnspecifiedMatching -OMIM:160741 MYH8 skos:exactMatch ncbigene:4626 semapv:UnspecifiedMatching -OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:7574 semapv:UnspecifiedMatching -OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:MYH4 semapv:UnspecifiedMatching -OMIM:160742 MYH4 skos:exactMatch ncbigene:4622 semapv:UnspecifiedMatching -OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:7569 semapv:UnspecifiedMatching -OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:MYH11 semapv:UnspecifiedMatching -OMIM:160745 MYH11 skos:exactMatch ncbigene:4629 semapv:UnspecifiedMatching -OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:7577 semapv:UnspecifiedMatching -OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:MYH7 semapv:UnspecifiedMatching -OMIM:160760 MYH7 skos:exactMatch ncbigene:4625 semapv:UnspecifiedMatching -OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:7585 semapv:UnspecifiedMatching -OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:MYL4 semapv:UnspecifiedMatching -OMIM:160770 MYL4 skos:exactMatch ncbigene:4635 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C1417544 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C1863659 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C4693968 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C4693969 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C4693970 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch UMLS:C5200934 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:7579 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:MYH9 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch ncbigene:4627 semapv:UnspecifiedMatching -OMIM:160776 MYH10 skos:exactMatch UMLS:C1417535 semapv:UnspecifiedMatching -OMIM:160776 MYH10 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:7568 semapv:UnspecifiedMatching -OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:MYH10 semapv:UnspecifiedMatching -OMIM:160776 MYH10 skos:exactMatch ncbigene:4628 semapv:UnspecifiedMatching -OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:7602 semapv:UnspecifiedMatching -OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:MYO5A semapv:UnspecifiedMatching -OMIM:160777 MYO5A skos:exactMatch ncbigene:4644 semapv:UnspecifiedMatching -OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:7582 semapv:UnspecifiedMatching -OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:MYL1 semapv:UnspecifiedMatching -OMIM:160780 MYL1 skos:exactMatch ncbigene:4632 semapv:UnspecifiedMatching -OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:7583 semapv:UnspecifiedMatching -OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:MYL2 semapv:UnspecifiedMatching -OMIM:160781 MYL2 skos:exactMatch ncbigene:4633 semapv:UnspecifiedMatching -OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:7586 semapv:UnspecifiedMatching -OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:MYL5 semapv:UnspecifiedMatching -OMIM:160782 MYL5 skos:exactMatch ncbigene:4636 semapv:UnspecifiedMatching -OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:7584 semapv:UnspecifiedMatching -OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:MYL3 semapv:UnspecifiedMatching -OMIM:160790 MYL3 skos:exactMatch ncbigene:4634 semapv:UnspecifiedMatching -OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:7550 semapv:UnspecifiedMatching -OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:MYBPC2 semapv:UnspecifiedMatching -OMIM:160793 MYBPC2 skos:exactMatch ncbigene:4606 semapv:UnspecifiedMatching -OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:7549 semapv:UnspecifiedMatching -OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:MYBPC1 semapv:UnspecifiedMatching -OMIM:160794 MYBPC1 skos:exactMatch ncbigene:4604 semapv:UnspecifiedMatching -OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:7552 semapv:UnspecifiedMatching -OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:MYBPH semapv:UnspecifiedMatching -OMIM:160795 MYBPH skos:exactMatch ncbigene:4608 semapv:UnspecifiedMatching -OMIM:160900 myotonic dystrophy 1 skos:exactMatch Orphanet:273 semapv:UnspecifiedMatching -OMIM:160900 myotonic dystrophy 1 skos:exactMatch UMLS:C3250443 semapv:UnspecifiedMatching -OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:7857 semapv:UnspecifiedMatching -OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:NMT1 semapv:UnspecifiedMatching -OMIM:160993 NMT1 skos:exactMatch ncbigene:4836 semapv:UnspecifiedMatching -OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:5046 semapv:UnspecifiedMatching -OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:HNRNPM semapv:UnspecifiedMatching -OMIM:160994 HNRNPM skos:exactMatch ncbigene:4670 semapv:UnspecifiedMatching -OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:7044 semapv:UnspecifiedMatching -OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:MGAT1 semapv:UnspecifiedMatching -OMIM:160995 MGAT1 skos:exactMatch ncbigene:4245 semapv:UnspecifiedMatching -OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:7856 semapv:UnspecifiedMatching -OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:NQO2 semapv:UnspecifiedMatching -OMIM:160998 NQO2 skos:exactMatch ncbigene:4835 semapv:UnspecifiedMatching -OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:7716 semapv:UnspecifiedMatching -OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:NDUFV1 semapv:UnspecifiedMatching -OMIM:161015 NDUFV1 skos:exactMatch ncbigene:4723 semapv:UnspecifiedMatching -OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:280654 semapv:UnspecifiedMatching -OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching -OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching -OMIM:161200 nail-patella syndrome skos:exactMatch Orphanet:2614 semapv:UnspecifiedMatching -OMIM:161200 nail-patella syndrome skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching -OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:6374 semapv:UnspecifiedMatching -OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:KLRC1 semapv:UnspecifiedMatching -OMIM:161555 KLRC1 skos:exactMatch ncbigene:3821 semapv:UnspecifiedMatching -OMIM:161560 IL12A skos:exactMatch UMLS:C1334101 semapv:UnspecifiedMatching -OMIM:161560 IL12A skos:exactMatch hgnc.symbol:5969 semapv:UnspecifiedMatching -OMIM:161560 IL12A skos:exactMatch hgnc.symbol:IL12A semapv:UnspecifiedMatching -OMIM:161560 IL12A skos:exactMatch ncbigene:3592 semapv:UnspecifiedMatching -OMIM:161561 IL12B skos:exactMatch hgnc.symbol:5970 semapv:UnspecifiedMatching -OMIM:161561 IL12B skos:exactMatch hgnc.symbol:IL12B semapv:UnspecifiedMatching -OMIM:161561 IL12B skos:exactMatch ncbigene:3593 semapv:UnspecifiedMatching -OMIM:161565 NKTR skos:exactMatch hgnc.symbol:7833 semapv:UnspecifiedMatching -OMIM:161565 NKTR skos:exactMatch hgnc.symbol:NKTR semapv:UnspecifiedMatching -OMIM:161565 NKTR skos:exactMatch ncbigene:4820 semapv:UnspecifiedMatching -OMIM:161650 NEB skos:exactMatch hgnc.symbol:7720 semapv:UnspecifiedMatching -OMIM:161650 NEB skos:exactMatch hgnc.symbol:NEB semapv:UnspecifiedMatching -OMIM:161650 NEB skos:exactMatch ncbigene:4703 semapv:UnspecifiedMatching -OMIM:162010 NGFR skos:exactMatch hgnc.symbol:7809 semapv:UnspecifiedMatching -OMIM:162010 NGFR skos:exactMatch hgnc.symbol:NGFR semapv:UnspecifiedMatching -OMIM:162010 NGFR skos:exactMatch ncbigene:4804 semapv:UnspecifiedMatching -OMIM:162030 NGF skos:exactMatch hgnc.symbol:7808 semapv:UnspecifiedMatching -OMIM:162030 NGF skos:exactMatch hgnc.symbol:NGF semapv:UnspecifiedMatching -OMIM:162030 NGF skos:exactMatch ncbigene:4803 semapv:UnspecifiedMatching -OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:4140 semapv:UnspecifiedMatching -OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:GAP43 semapv:UnspecifiedMatching -OMIM:162060 GAP43 skos:exactMatch ncbigene:2596 semapv:UnspecifiedMatching -OMIM:162080 NRL skos:exactMatch hgnc.symbol:8002 semapv:UnspecifiedMatching -OMIM:162080 NRL skos:exactMatch hgnc.symbol:NRL semapv:UnspecifiedMatching -OMIM:162080 NRL skos:exactMatch ncbigene:4901 semapv:UnspecifiedMatching -OMIM:162095 PTN skos:exactMatch hgnc.symbol:9630 semapv:UnspecifiedMatching -OMIM:162095 PTN skos:exactMatch hgnc.symbol:PTN semapv:UnspecifiedMatching -OMIM:162095 PTN skos:exactMatch ncbigene:5764 semapv:UnspecifiedMatching -OMIM:162096 MDK skos:exactMatch hgnc.symbol:6972 semapv:UnspecifiedMatching -OMIM:162096 MDK skos:exactMatch hgnc.symbol:MDK semapv:UnspecifiedMatching -OMIM:162096 MDK skos:exactMatch ncbigene:4192 semapv:UnspecifiedMatching -OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:8743 semapv:UnspecifiedMatching -OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:PCSK1 semapv:UnspecifiedMatching -OMIM:162150 PCSK1 skos:exactMatch ncbigene:5122 semapv:UnspecifiedMatching -OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:8744 semapv:UnspecifiedMatching -OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:PCSK2 semapv:UnspecifiedMatching -OMIM:162151 PCSK2 skos:exactMatch ncbigene:5126 semapv:UnspecifiedMatching -OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:363700 semapv:UnspecifiedMatching -OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching -OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching -OMIM:162230 NEFH skos:exactMatch hgnc.symbol:7737 semapv:UnspecifiedMatching -OMIM:162230 NEFH skos:exactMatch hgnc.symbol:NEFH semapv:UnspecifiedMatching -OMIM:162230 NEFH skos:exactMatch ncbigene:4744 semapv:UnspecifiedMatching -OMIM:162250 NEFM skos:exactMatch hgnc.symbol:7734 semapv:UnspecifiedMatching -OMIM:162250 NEFM skos:exactMatch hgnc.symbol:NEFM semapv:UnspecifiedMatching -OMIM:162250 NEFM skos:exactMatch ncbigene:4741 semapv:UnspecifiedMatching -OMIM:162280 NEFL skos:exactMatch hgnc.symbol:7739 semapv:UnspecifiedMatching -OMIM:162280 NEFL skos:exactMatch hgnc.symbol:NEFL semapv:UnspecifiedMatching -OMIM:162280 NEFL skos:exactMatch ncbigene:4747 semapv:UnspecifiedMatching -OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:11517 semapv:UnspecifiedMatching -OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:TAC1 semapv:UnspecifiedMatching -OMIM:162320 TAC1 skos:exactMatch ncbigene:6863 semapv:UnspecifiedMatching -OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:11527 semapv:UnspecifiedMatching -OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:TACR2 semapv:UnspecifiedMatching -OMIM:162321 TACR2 skos:exactMatch ncbigene:6865 semapv:UnspecifiedMatching -OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:11526 semapv:UnspecifiedMatching -OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:TACR1 semapv:UnspecifiedMatching -OMIM:162323 TACR1 skos:exactMatch ncbigene:6869 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch UMLS:C1420564 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch UMLS:C3553843 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch UMLS:C4016274 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:11521 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:TAC3 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch ncbigene:6866 semapv:UnspecifiedMatching -OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:11528 semapv:UnspecifiedMatching -OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:TACR3 semapv:UnspecifiedMatching -OMIM:162332 TACR3 skos:exactMatch ncbigene:6870 semapv:UnspecifiedMatching -OMIM:162340 NMB skos:exactMatch hgnc.symbol:7842 semapv:UnspecifiedMatching -OMIM:162340 NMB skos:exactMatch hgnc.symbol:NMB semapv:UnspecifiedMatching -OMIM:162340 NMB skos:exactMatch ncbigene:4828 semapv:UnspecifiedMatching -OMIM:162341 NMBR skos:exactMatch hgnc.symbol:7843 semapv:UnspecifiedMatching -OMIM:162341 NMBR skos:exactMatch hgnc.symbol:NMBR semapv:UnspecifiedMatching -OMIM:162341 NMBR skos:exactMatch ncbigene:4829 semapv:UnspecifiedMatching -OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:7817 semapv:UnspecifiedMatching -OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:NHLH1 semapv:UnspecifiedMatching -OMIM:162360 NHLH1 skos:exactMatch ncbigene:4807 semapv:UnspecifiedMatching -OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:7818 semapv:UnspecifiedMatching -OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:NHLH2 semapv:UnspecifiedMatching -OMIM:162361 NHLH2 skos:exactMatch ncbigene:4808 semapv:UnspecifiedMatching -OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching -OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C0020071 semapv:UnspecifiedMatching -OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching -OMIM:162640 NPY skos:exactMatch hgnc.symbol:7955 semapv:UnspecifiedMatching -OMIM:162640 NPY skos:exactMatch hgnc.symbol:NPY semapv:UnspecifiedMatching -OMIM:162640 NPY skos:exactMatch ncbigene:4852 semapv:UnspecifiedMatching -OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:7956 semapv:UnspecifiedMatching -OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:NPY1R semapv:UnspecifiedMatching -OMIM:162641 NPY1R skos:exactMatch ncbigene:4886 semapv:UnspecifiedMatching -OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:7957 semapv:UnspecifiedMatching -OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:NPY2R semapv:UnspecifiedMatching -OMIM:162642 NPY2R skos:exactMatch ncbigene:4887 semapv:UnspecifiedMatching -OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:2561 semapv:UnspecifiedMatching -OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:CXCR4 semapv:UnspecifiedMatching -OMIM:162643 CXCR4 skos:exactMatch ncbigene:7852 semapv:UnspecifiedMatching -OMIM:162650 NTS skos:exactMatch hgnc.symbol:8038 semapv:UnspecifiedMatching -OMIM:162650 NTS skos:exactMatch hgnc.symbol:NTS semapv:UnspecifiedMatching -OMIM:162650 NTS skos:exactMatch ncbigene:4922 semapv:UnspecifiedMatching -OMIM:162651 NTSR1 skos:exactMatch UMLS:C1417870 semapv:UnspecifiedMatching -OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:8039 semapv:UnspecifiedMatching -OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:NTSR1 semapv:UnspecifiedMatching -OMIM:162651 NTSR1 skos:exactMatch ncbigene:4923 semapv:UnspecifiedMatching -OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:8023 semapv:UnspecifiedMatching -OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:NTF3 semapv:UnspecifiedMatching -OMIM:162660 NTF3 skos:exactMatch ncbigene:4908 semapv:UnspecifiedMatching -OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:8024 semapv:UnspecifiedMatching -OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:NTF4 semapv:UnspecifiedMatching -OMIM:162662 NTF4 skos:exactMatch ncbigene:4909 semapv:UnspecifiedMatching -OMIM:162815 NAZC skos:exactMatch hgnc.symbol:913 semapv:UnspecifiedMatching -OMIM:162815 NAZC skos:exactMatch hgnc.symbol:AZU1 semapv:UnspecifiedMatching -OMIM:162815 NAZC skos:exactMatch ncbigene:566 semapv:UnspecifiedMatching -OMIM:162860 CD177 skos:exactMatch hgnc.symbol:30072 semapv:UnspecifiedMatching -OMIM:162860 CD177 skos:exactMatch hgnc.symbol:CD177 semapv:UnspecifiedMatching -OMIM:162860 CD177 skos:exactMatch ncbigene:57126 semapv:UnspecifiedMatching -OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch Orphanet:2612 semapv:UnspecifiedMatching -OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch UMLS:C4552097 semapv:UnspecifiedMatching -OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:7781 semapv:UnspecifiedMatching -OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:NFE2L1 semapv:UnspecifiedMatching -OMIM:163260 NFE2L1 skos:exactMatch ncbigene:4779 semapv:UnspecifiedMatching -OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:7876 semapv:UnspecifiedMatching -OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:NOS3 semapv:UnspecifiedMatching -OMIM:163729 NOS3 skos:exactMatch ncbigene:4846 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C1417760 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:7873 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:NOS2 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch ncbigene:4843 semapv:UnspecifiedMatching -OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:7872 semapv:UnspecifiedMatching -OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:NOS1 semapv:UnspecifiedMatching -OMIM:163731 NOS1 skos:exactMatch ncbigene:4842 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch UMLS:C0752347 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch UMLS:C1420276 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch UMLS:C1854182 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch UMLS:C1868595 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch hgnc.symbol:11138 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch hgnc.symbol:SNCA semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch ncbigene:6622 semapv:UnspecifiedMatching -OMIM:163905 HMGB1 skos:exactMatch hgnc.symbol:4983 semapv:UnspecifiedMatching -OMIM:163905 HMGB1 skos:exactMatch hgnc.symbol:HMGB1 semapv:UnspecifiedMatching -OMIM:163905 HMGB1 skos:exactMatch ncbigene:3146 semapv:UnspecifiedMatching -OMIM:163906 HMGB2 skos:exactMatch hgnc.symbol:5000 semapv:UnspecifiedMatching -OMIM:163906 HMGB2 skos:exactMatch hgnc.symbol:HMGB2 semapv:UnspecifiedMatching -OMIM:163906 HMGB2 skos:exactMatch ncbigene:3148 semapv:UnspecifiedMatching -OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:4986 semapv:UnspecifiedMatching -OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:HMGN2 semapv:UnspecifiedMatching -OMIM:163910 HMGN2 skos:exactMatch ncbigene:3151 semapv:UnspecifiedMatching -OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:4984 semapv:UnspecifiedMatching -OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:HMGN1 semapv:UnspecifiedMatching -OMIM:163920 HMGN1 skos:exactMatch ncbigene:3150 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0041409 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C1527404 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching -OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:11048 semapv:UnspecifiedMatching -OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:SLC6A2 semapv:UnspecifiedMatching -OMIM:163970 SLC6A2 skos:exactMatch ncbigene:6530 semapv:UnspecifiedMatching -OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:1818 semapv:UnspecifiedMatching -OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:CEACAM6 semapv:UnspecifiedMatching -OMIM:163980 CEACAM6 skos:exactMatch ncbigene:4680 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch UMLS:C1417707 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch hgnc.symbol:7788 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch hgnc.symbol:NFIX semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch ncbigene:4784 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch UMLS:C1334877 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:7797 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:NFKBIA semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch ncbigene:4792 semapv:UnspecifiedMatching -OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:8059 semapv:UnspecifiedMatching -OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:NUMA1 semapv:UnspecifiedMatching -OMIM:164009 NUMA1 skos:exactMatch ncbigene:4926 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch UMLS:C1418385 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch UMLS:C3554209 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:8740 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:CHMP1A semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch ncbigene:5119 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch UMLS:C1417708 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:7794 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:NFKB1 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch ncbigene:4790 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch UMLS:C0812286 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:7795 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:NFKB2 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch ncbigene:4791 semapv:UnspecifiedMatching -OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:7802 semapv:UnspecifiedMatching -OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:NFRKB semapv:UnspecifiedMatching -OMIM:164013 NFRKB skos:exactMatch ncbigene:4798 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch UMLS:C1335610 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch UMLS:C4748997 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch hgnc.symbol:9955 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch hgnc.symbol:RELA semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch ncbigene:5970 semapv:UnspecifiedMatching -OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:6912 semapv:UnspecifiedMatching -OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:MATR3 semapv:UnspecifiedMatching -OMIM:164015 MATR3 skos:exactMatch ncbigene:9782 semapv:UnspecifiedMatching -OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:5031 semapv:UnspecifiedMatching -OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:HNRNPA1 semapv:UnspecifiedMatching -OMIM:164017 HNRNPA1 skos:exactMatch ncbigene:3178 semapv:UnspecifiedMatching -OMIM:164020 HNRNPC skos:exactMatch UMLS:C1415637 semapv:UnspecifiedMatching -OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:5035 semapv:UnspecifiedMatching -OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:HNRNPC semapv:UnspecifiedMatching -OMIM:164020 HNRNPC skos:exactMatch ncbigene:3183 semapv:UnspecifiedMatching -OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:7867 semapv:UnspecifiedMatching -OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:NOP2 semapv:UnspecifiedMatching -OMIM:164031 NOP2 skos:exactMatch ncbigene:4839 semapv:UnspecifiedMatching -OMIM:164035 NCL skos:exactMatch hgnc.symbol:7667 semapv:UnspecifiedMatching -OMIM:164035 NCL skos:exactMatch hgnc.symbol:NCL semapv:UnspecifiedMatching -OMIM:164035 NCL skos:exactMatch ncbigene:4691 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch UMLS:C1334894 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:7910 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:NPM1 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch ncbigene:4869 semapv:UnspecifiedMatching -OMIM:164050 PNP skos:exactMatch hgnc.symbol:7892 semapv:UnspecifiedMatching -OMIM:164050 PNP skos:exactMatch hgnc.symbol:PNP semapv:UnspecifiedMatching -OMIM:164050 PNP skos:exactMatch ncbigene:4860 semapv:UnspecifiedMatching -OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:7637 semapv:UnspecifiedMatching -OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:NAP1L1 semapv:UnspecifiedMatching -OMIM:164060 NAP1L1 skos:exactMatch ncbigene:4673 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch UMLS:C1416825 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch UMLS:C3554224 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch UMLS:C4016279 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch hgnc.symbol:6553 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch hgnc.symbol:LEP semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch ncbigene:3952 semapv:UnspecifiedMatching -OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:9212 semapv:UnspecifiedMatching -OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:POU2F1 semapv:UnspecifiedMatching -OMIM:164175 POU2F1 skos:exactMatch ncbigene:5451 semapv:UnspecifiedMatching -OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:9213 semapv:UnspecifiedMatching -OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:POU2F2 semapv:UnspecifiedMatching -OMIM:164176 POU2F2 skos:exactMatch ncbigene:5452 semapv:UnspecifiedMatching -OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:9221 semapv:UnspecifiedMatching -OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:POU5F1 semapv:UnspecifiedMatching -OMIM:164177 POU5F1 skos:exactMatch ncbigene:5460 semapv:UnspecifiedMatching -OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching -OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C1834014 semapv:UnspecifiedMatching -OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C5231388 semapv:UnspecifiedMatching -OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:23380 semapv:UnspecifiedMatching -OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:OBP2A semapv:UnspecifiedMatching -OMIM:164320 OBP2A skos:exactMatch ncbigene:29991 semapv:UnspecifiedMatching -OMIM:164340 OMP skos:exactMatch hgnc.symbol:8136 semapv:UnspecifiedMatching -OMIM:164340 OMP skos:exactMatch hgnc.symbol:OMP semapv:UnspecifiedMatching -OMIM:164340 OMP skos:exactMatch ncbigene:4975 semapv:UnspecifiedMatching -OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:8183 semapv:UnspecifiedMatching -OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:OR1D2 semapv:UnspecifiedMatching -OMIM:164342 OR1D2 skos:exactMatch ncbigene:4991 semapv:UnspecifiedMatching -OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:3126 semapv:UnspecifiedMatching -OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:EBF1 semapv:UnspecifiedMatching -OMIM:164343 EBF1 skos:exactMatch ncbigene:1879 semapv:UnspecifiedMatching -OMIM:164345 OMG skos:exactMatch hgnc.symbol:8135 semapv:UnspecifiedMatching -OMIM:164345 OMG skos:exactMatch hgnc.symbol:OMG semapv:UnspecifiedMatching -OMIM:164345 OMG skos:exactMatch ncbigene:4974 semapv:UnspecifiedMatching -OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:8086 semapv:UnspecifiedMatching -OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:OAS1 semapv:UnspecifiedMatching -OMIM:164350 OAS1 skos:exactMatch ncbigene:4938 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch UMLS:C1412647 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:823 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:ATP5F1A semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch ncbigene:498 semapv:UnspecifiedMatching -OMIM:164690 ABL2 skos:exactMatch UMLS:C0812381 semapv:UnspecifiedMatching -OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:77 semapv:UnspecifiedMatching -OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:ABL2 semapv:UnspecifiedMatching -OMIM:164690 ABL2 skos:exactMatch ncbigene:27 semapv:UnspecifiedMatching -OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:3488 semapv:UnspecifiedMatching -OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:ETS1 semapv:UnspecifiedMatching -OMIM:164720 ETS1 skos:exactMatch ncbigene:2113 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C0812228 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C3277233 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C3554519 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:391 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:AKT1 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch ncbigene:207 semapv:UnspecifiedMatching -OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:392 semapv:UnspecifiedMatching -OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:AKT2 semapv:UnspecifiedMatching -OMIM:164731 AKT2 skos:exactMatch ncbigene:208 semapv:UnspecifiedMatching -OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:3489 semapv:UnspecifiedMatching -OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:ETS2 semapv:UnspecifiedMatching -OMIM:164740 ETS2 skos:exactMatch ncbigene:2114 semapv:UnspecifiedMatching -OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:12696 semapv:UnspecifiedMatching -OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:VIS1 semapv:UnspecifiedMatching -OMIM:164755 VIS1 skos:exactMatch ncbigene:7435 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C0812241 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C2674727 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3150970 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3150971 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3277236 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3836559 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch UMLS:C4016284 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch hgnc.symbol:1097 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch hgnc.symbol:BRAF semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch ncbigene:673 semapv:UnspecifiedMatching -OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:9829 semapv:UnspecifiedMatching -OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:RAF1 semapv:UnspecifiedMatching -OMIM:164760 RAF1 skos:exactMatch ncbigene:5894 semapv:UnspecifiedMatching -OMIM:164761 RET skos:exactMatch hgnc.symbol:9967 semapv:UnspecifiedMatching -OMIM:164761 RET skos:exactMatch hgnc.symbol:RET semapv:UnspecifiedMatching -OMIM:164761 RET skos:exactMatch ncbigene:5979 semapv:UnspecifiedMatching -OMIM:164762 CRK skos:exactMatch hgnc.symbol:2362 semapv:UnspecifiedMatching -OMIM:164762 CRK skos:exactMatch hgnc.symbol:CRK semapv:UnspecifiedMatching -OMIM:164762 CRK skos:exactMatch ncbigene:1398 semapv:UnspecifiedMatching -OMIM:164765 CTTN skos:exactMatch hgnc.symbol:3338 semapv:UnspecifiedMatching -OMIM:164765 CTTN skos:exactMatch hgnc.symbol:CTTN semapv:UnspecifiedMatching -OMIM:164765 CTTN skos:exactMatch ncbigene:2017 semapv:UnspecifiedMatching -OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:2433 semapv:UnspecifiedMatching -OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:CSF1R semapv:UnspecifiedMatching -OMIM:164770 CSF1R skos:exactMatch ncbigene:1436 semapv:UnspecifiedMatching -OMIM:164772 FOSB skos:exactMatch UMLS:C1333571 semapv:UnspecifiedMatching -OMIM:164772 FOSB skos:exactMatch hgnc.symbol:3797 semapv:UnspecifiedMatching -OMIM:164772 FOSB skos:exactMatch hgnc.symbol:FOSB semapv:UnspecifiedMatching -OMIM:164772 FOSB skos:exactMatch ncbigene:2354 semapv:UnspecifiedMatching -OMIM:164780 SKI skos:exactMatch hgnc.symbol:10896 semapv:UnspecifiedMatching -OMIM:164780 SKI skos:exactMatch hgnc.symbol:SKI semapv:UnspecifiedMatching -OMIM:164780 SKI skos:exactMatch ncbigene:6497 semapv:UnspecifiedMatching -OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:6973 semapv:UnspecifiedMatching -OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:MDM2 semapv:UnspecifiedMatching -OMIM:164785 MDM2 skos:exactMatch ncbigene:4193 semapv:UnspecifiedMatching -OMIM:164790 NRAS skos:exactMatch hgnc.symbol:7989 semapv:UnspecifiedMatching -OMIM:164790 NRAS skos:exactMatch hgnc.symbol:NRAS semapv:UnspecifiedMatching -OMIM:164790 NRAS skos:exactMatch ncbigene:4893 semapv:UnspecifiedMatching -OMIM:164795 OCM skos:exactMatch hgnc.symbol:8105 semapv:UnspecifiedMatching -OMIM:164795 OCM skos:exactMatch hgnc.symbol:OCM semapv:UnspecifiedMatching -OMIM:164795 OCM skos:exactMatch ncbigene:654231 semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch UMLS:C0087140 semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch hgnc.symbol:3796 semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch hgnc.symbol:FOS semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch ncbigene:2353 semapv:UnspecifiedMatching -OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:12774 semapv:UnspecifiedMatching -OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:WNT1 semapv:UnspecifiedMatching -OMIM:164820 WNT1 skos:exactMatch ncbigene:7471 semapv:UnspecifiedMatching -OMIM:164831 BMI1 skos:exactMatch UMLS:C1826623 semapv:UnspecifiedMatching -OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:1066 semapv:UnspecifiedMatching -OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:BMI1 semapv:UnspecifiedMatching -OMIM:164831 BMI1 skos:exactMatch ncbigene:648 semapv:UnspecifiedMatching -OMIM:164840 MYCN skos:exactMatch hgnc.symbol:7559 semapv:UnspecifiedMatching -OMIM:164840 MYCN skos:exactMatch hgnc.symbol:MYCN semapv:UnspecifiedMatching -OMIM:164840 MYCN skos:exactMatch ncbigene:4613 semapv:UnspecifiedMatching -OMIM:164850 MYCL skos:exactMatch UMLS:C0812289 semapv:UnspecifiedMatching -OMIM:164850 MYCL skos:exactMatch hgnc.symbol:7555 semapv:UnspecifiedMatching -OMIM:164850 MYCL skos:exactMatch hgnc.symbol:MYCL semapv:UnspecifiedMatching -OMIM:164850 MYCL skos:exactMatch ncbigene:4610 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C1336839 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C1417123 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C4016289 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C4016290 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C4084709 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch hgnc.symbol:7029 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch hgnc.symbol:MET semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch ncbigene:4233 semapv:UnspecifiedMatching -OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:3430 semapv:UnspecifiedMatching -OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:ERBB2 semapv:UnspecifiedMatching -OMIM:164870 ERBB2 skos:exactMatch ncbigene:2064 semapv:UnspecifiedMatching -OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:3492 semapv:UnspecifiedMatching -OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:ETV3 semapv:UnspecifiedMatching -OMIM:164873 ETV3 skos:exactMatch ncbigene:2117 semapv:UnspecifiedMatching -OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:3811 semapv:UnspecifiedMatching -OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:FOXG1 semapv:UnspecifiedMatching -OMIM:164874 FOXG1 skos:exactMatch ncbigene:2290 semapv:UnspecifiedMatching -OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:12657 semapv:UnspecifiedMatching -OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:VAV1 semapv:UnspecifiedMatching -OMIM:164875 VAV1 skos:exactMatch ncbigene:7409 semapv:UnspecifiedMatching -OMIM:164880 YES1 skos:exactMatch hgnc.symbol:12841 semapv:UnspecifiedMatching -OMIM:164880 YES1 skos:exactMatch hgnc.symbol:YES1 semapv:UnspecifiedMatching -OMIM:164880 YES1 skos:exactMatch ncbigene:7525 semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch UMLS:C0035018 semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch hgnc.symbol:9954 semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch hgnc.symbol:REL semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch ncbigene:5966 semapv:UnspecifiedMatching -OMIM:164920 KIT skos:exactMatch hgnc.symbol:6342 semapv:UnspecifiedMatching -OMIM:164920 KIT skos:exactMatch hgnc.symbol:KIT semapv:UnspecifiedMatching -OMIM:164920 KIT skos:exactMatch ncbigene:3815 semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch UMLS:C0919478 semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch hgnc.symbol:3697 semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch hgnc.symbol:FGR semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch ncbigene:2268 semapv:UnspecifiedMatching -OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:3681 semapv:UnspecifiedMatching -OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:FGF3 semapv:UnspecifiedMatching -OMIM:164950 FGF3 skos:exactMatch ncbigene:2248 semapv:UnspecifiedMatching -OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:7884 semapv:UnspecifiedMatching -OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:NOTCH4 semapv:UnspecifiedMatching -OMIM:164951 NOTCH4 skos:exactMatch ncbigene:4855 semapv:UnspecifiedMatching -OMIM:164953 LPSA skos:exactMatch ncbigene:8177 semapv:UnspecifiedMatching -OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:7885 semapv:UnspecifiedMatching -OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:CCN3 semapv:UnspecifiedMatching -OMIM:164958 CCN3 skos:exactMatch ncbigene:4856 semapv:UnspecifiedMatching -OMIM:164960 PIM1 skos:exactMatch hgnc.symbol:8986 semapv:UnspecifiedMatching -OMIM:164960 PIM1 skos:exactMatch hgnc.symbol:PIM1 semapv:UnspecifiedMatching -OMIM:164960 PIM1 skos:exactMatch ncbigene:5292 semapv:UnspecifiedMatching -OMIM:164975 WNT5A skos:exactMatch hgnc.symbol:12784 semapv:UnspecifiedMatching -OMIM:164975 WNT5A skos:exactMatch hgnc.symbol:WNT5A semapv:UnspecifiedMatching -OMIM:164975 WNT5A skos:exactMatch ncbigene:7474 semapv:UnspecifiedMatching -OMIM:164980 FGF4 skos:exactMatch hgnc.symbol:3682 semapv:UnspecifiedMatching -OMIM:164980 FGF4 skos:exactMatch hgnc.symbol:FGF4 semapv:UnspecifiedMatching -OMIM:164980 FGF4 skos:exactMatch ncbigene:2249 semapv:UnspecifiedMatching -OMIM:165020 ROS1 skos:exactMatch hgnc.symbol:10261 semapv:UnspecifiedMatching -OMIM:165020 ROS1 skos:exactMatch hgnc.symbol:ROS1 semapv:UnspecifiedMatching -OMIM:165020 ROS1 skos:exactMatch ncbigene:6098 semapv:UnspecifiedMatching -OMIM:165040 RAB8A skos:exactMatch hgnc.symbol:7007 semapv:UnspecifiedMatching -OMIM:165040 RAB8A skos:exactMatch hgnc.symbol:RAB8A semapv:UnspecifiedMatching -OMIM:165040 RAB8A skos:exactMatch ncbigene:4218 semapv:UnspecifiedMatching -OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:12348 semapv:UnspecifiedMatching -OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:TRU-TCA1-1 semapv:UnspecifiedMatching -OMIM:165060 TRU-TCA1-1 skos:exactMatch ncbigene:7234 semapv:UnspecifiedMatching -OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:3763 semapv:UnspecifiedMatching -OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:FLT1 semapv:UnspecifiedMatching -OMIM:165070 FLT1 skos:exactMatch ncbigene:2321 semapv:UnspecifiedMatching -OMIM:165080 ERG skos:exactMatch hgnc.symbol:3446 semapv:UnspecifiedMatching -OMIM:165080 ERG skos:exactMatch hgnc.symbol:ERG semapv:UnspecifiedMatching -OMIM:165080 ERG skos:exactMatch ncbigene:2078 semapv:UnspecifiedMatching -OMIM:165090 RRAS skos:exactMatch hgnc.symbol:10447 semapv:UnspecifiedMatching -OMIM:165090 RRAS skos:exactMatch hgnc.symbol:RRAS semapv:UnspecifiedMatching -OMIM:165090 RRAS skos:exactMatch ncbigene:6237 semapv:UnspecifiedMatching -OMIM:165095 OSM skos:exactMatch hgnc.symbol:8506 semapv:UnspecifiedMatching -OMIM:165095 OSM skos:exactMatch hgnc.symbol:OSM semapv:UnspecifiedMatching -OMIM:165095 OSM skos:exactMatch ncbigene:5008 semapv:UnspecifiedMatching -OMIM:165110 SEA skos:exactMatch hgnc.symbol:SEA semapv:UnspecifiedMatching -OMIM:165110 SEA skos:exactMatch ncbigene:6395 semapv:UnspecifiedMatching -OMIM:165120 LYN skos:exactMatch hgnc.symbol:6735 semapv:UnspecifiedMatching -OMIM:165120 LYN skos:exactMatch hgnc.symbol:LYN semapv:UnspecifiedMatching -OMIM:165120 LYN skos:exactMatch ncbigene:4067 semapv:UnspecifiedMatching -OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:9709 semapv:UnspecifiedMatching -OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:PVT1 semapv:UnspecifiedMatching -OMIM:165140 PVT1 skos:exactMatch ncbigene:5820 semapv:UnspecifiedMatching -OMIM:165160 JUN skos:exactMatch hgnc.symbol:6204 semapv:UnspecifiedMatching -OMIM:165160 JUN skos:exactMatch hgnc.symbol:JUN semapv:UnspecifiedMatching -OMIM:165160 JUN skos:exactMatch ncbigene:3725 semapv:UnspecifiedMatching -OMIM:165161 JUNB skos:exactMatch hgnc.symbol:6205 semapv:UnspecifiedMatching -OMIM:165161 JUNB skos:exactMatch hgnc.symbol:JUNB semapv:UnspecifiedMatching -OMIM:165161 JUNB skos:exactMatch ncbigene:3726 semapv:UnspecifiedMatching -OMIM:165162 JUND skos:exactMatch hgnc.symbol:6206 semapv:UnspecifiedMatching -OMIM:165162 JUND skos:exactMatch hgnc.symbol:JUND semapv:UnspecifiedMatching -OMIM:165162 JUND skos:exactMatch ncbigene:3727 semapv:UnspecifiedMatching -OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:11241 semapv:UnspecifiedMatching -OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:SPI1 semapv:UnspecifiedMatching -OMIM:165170 SPI1 skos:exactMatch ncbigene:6688 semapv:UnspecifiedMatching -OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:6899 semapv:UnspecifiedMatching -OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:MAS1 semapv:UnspecifiedMatching -OMIM:165180 MAS1 skos:exactMatch ncbigene:4142 semapv:UnspecifiedMatching -OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:3683 semapv:UnspecifiedMatching -OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:FGF5 semapv:UnspecifiedMatching -OMIM:165190 FGF5 skos:exactMatch ncbigene:2250 semapv:UnspecifiedMatching -OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:8153 semapv:UnspecifiedMatching -OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:OPRD1 semapv:UnspecifiedMatching -OMIM:165195 OPRD1 skos:exactMatch ncbigene:4985 semapv:UnspecifiedMatching -OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:8154 semapv:UnspecifiedMatching -OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:OPRK1 semapv:UnspecifiedMatching -OMIM:165196 OPRK1 skos:exactMatch ncbigene:4986 semapv:UnspecifiedMatching -OMIM:165215 MECOM skos:exactMatch hgnc.symbol:3498 semapv:UnspecifiedMatching -OMIM:165215 MECOM skos:exactMatch hgnc.symbol:MECOM semapv:UnspecifiedMatching -OMIM:165215 MECOM skos:exactMatch ncbigene:2122 semapv:UnspecifiedMatching -OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:4317 semapv:UnspecifiedMatching -OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:GLI1 semapv:UnspecifiedMatching -OMIM:165220 GLI1 skos:exactMatch ncbigene:2735 semapv:UnspecifiedMatching -OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:4318 semapv:UnspecifiedMatching -OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:GLI2 semapv:UnspecifiedMatching -OMIM:165230 GLI2 skos:exactMatch ncbigene:2736 semapv:UnspecifiedMatching -OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:4319 semapv:UnspecifiedMatching -OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:GLI3 semapv:UnspecifiedMatching -OMIM:165240 GLI3 skos:exactMatch ncbigene:2737 semapv:UnspecifiedMatching -OMIM:165250 ZNF875 skos:exactMatch hgnc.symbol:4928 semapv:UnspecifiedMatching -OMIM:165250 ZNF875 skos:exactMatch hgnc.symbol:ZNF875 semapv:UnspecifiedMatching -OMIM:165250 ZNF875 skos:exactMatch ncbigene:284459 semapv:UnspecifiedMatching -OMIM:165260 ZSCAN22 skos:exactMatch hgnc.symbol:4929 semapv:UnspecifiedMatching -OMIM:165260 ZSCAN22 skos:exactMatch hgnc.symbol:ZSCAN22 semapv:UnspecifiedMatching -OMIM:165260 ZSCAN22 skos:exactMatch ncbigene:342945 semapv:UnspecifiedMatching -OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:4930 semapv:UnspecifiedMatching -OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:ZBTB48 semapv:UnspecifiedMatching -OMIM:165270 ZBTB48 skos:exactMatch ncbigene:3104 semapv:UnspecifiedMatching -OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:4320 semapv:UnspecifiedMatching -OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:GLI4 semapv:UnspecifiedMatching -OMIM:165280 GLI4 skos:exactMatch ncbigene:2738 semapv:UnspecifiedMatching -OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch Orphanet:67036 semapv:UnspecifiedMatching -OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching -OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:12782 semapv:UnspecifiedMatching -OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:WNT3 semapv:UnspecifiedMatching -OMIM:165330 WNT3 skos:exactMatch ncbigene:7473 semapv:UnspecifiedMatching -OMIM:165340 SKIL skos:exactMatch hgnc.symbol:10897 semapv:UnspecifiedMatching -OMIM:165340 SKIL skos:exactMatch hgnc.symbol:SKIL semapv:UnspecifiedMatching -OMIM:165340 SKIL skos:exactMatch ncbigene:6498 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch UMLS:C0812242 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch UMLS:C4016300 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch UMLS:C4016301 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch hgnc.symbol:1541 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch hgnc.symbol:CBL semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch ncbigene:867 semapv:UnspecifiedMatching -OMIM:165370 RHOB skos:exactMatch hgnc.symbol:668 semapv:UnspecifiedMatching -OMIM:165370 RHOB skos:exactMatch hgnc.symbol:RHOB semapv:UnspecifiedMatching -OMIM:165370 RHOB skos:exactMatch ncbigene:388 semapv:UnspecifiedMatching -OMIM:165380 RHOC skos:exactMatch hgnc.symbol:669 semapv:UnspecifiedMatching -OMIM:165380 RHOC skos:exactMatch hgnc.symbol:RHOC semapv:UnspecifiedMatching -OMIM:165380 RHOC skos:exactMatch ncbigene:389 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch UMLS:C0812234 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch UMLS:C5231517 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch hgnc.symbol:667 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch hgnc.symbol:RHOA semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch ncbigene:387 semapv:UnspecifiedMatching -OMIM:165500 optic atrophy 1 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching -OMIM:165500 optic atrophy 1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching -OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch UMLS:C1417932 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch UMLS:C1417933 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch UMLS:C5436942 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:8109 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:ODC1 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch ncbigene:4953 semapv:UnspecifiedMatching -OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:251262 semapv:UnspecifiedMatching -OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:435804 semapv:UnspecifiedMatching -OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch UMLS:C3665488 semapv:UnspecifiedMatching -OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch Orphanet:2774 semapv:UnspecifiedMatching -OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching -OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:11255 semapv:UnspecifiedMatching -OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:SPP1 semapv:UnspecifiedMatching -OMIM:166490 SPP1 skos:exactMatch ncbigene:6696 semapv:UnspecifiedMatching -OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:1306 semapv:UnspecifiedMatching -OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:166119 semapv:UnspecifiedMatching -OMIM:166700 buschke-ollendorff syndrome skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching -OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching -OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch UMLS:C3714941 semapv:UnspecifiedMatching -OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:6746 semapv:UnspecifiedMatching -OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:NBR1 semapv:UnspecifiedMatching -OMIM:166945 NBR1 skos:exactMatch ncbigene:4077 semapv:UnspecifiedMatching -OMIM:167040 OSBP skos:exactMatch hgnc.symbol:8503 semapv:UnspecifiedMatching -OMIM:167040 OSBP skos:exactMatch hgnc.symbol:OSBP semapv:UnspecifiedMatching -OMIM:167040 OSBP skos:exactMatch ncbigene:5007 semapv:UnspecifiedMatching -OMIM:167050 OXT skos:exactMatch hgnc.symbol:8528 semapv:UnspecifiedMatching -OMIM:167050 OXT skos:exactMatch hgnc.symbol:OXT semapv:UnspecifiedMatching -OMIM:167050 OXT skos:exactMatch ncbigene:5020 semapv:UnspecifiedMatching -OMIM:167055 OXTR skos:exactMatch hgnc.symbol:8529 semapv:UnspecifiedMatching -OMIM:167055 OXTR skos:exactMatch hgnc.symbol:OXTR semapv:UnspecifiedMatching -OMIM:167055 OXTR skos:exactMatch ncbigene:5021 semapv:UnspecifiedMatching -OMIM:167200 pachyonychia congenita 1 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching -OMIM:167200 pachyonychia congenita 1 skos:exactMatch UMLS:C1706595 semapv:UnspecifiedMatching -OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch Orphanet:52430 semapv:UnspecifiedMatching -OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching -OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C4551951 semapv:UnspecifiedMatching -OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:8569 semapv:UnspecifiedMatching -OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:PCSK6 semapv:UnspecifiedMatching -OMIM:167405 PCSK6 skos:exactMatch ncbigene:5046 semapv:UnspecifiedMatching -OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:8616 semapv:UnspecifiedMatching -OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:PAX2 semapv:UnspecifiedMatching -OMIM:167409 PAX2 skos:exactMatch ncbigene:5076 semapv:UnspecifiedMatching -OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:8621 semapv:UnspecifiedMatching -OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:PAX7 semapv:UnspecifiedMatching -OMIM:167410 PAX7 skos:exactMatch ncbigene:5081 semapv:UnspecifiedMatching -OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:8615 semapv:UnspecifiedMatching -OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:PAX1 semapv:UnspecifiedMatching -OMIM:167411 PAX1 skos:exactMatch ncbigene:5075 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch UMLS:C1418275 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch UMLS:C2677132 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch UMLS:C4016306 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:8618 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:PAX4 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch ncbigene:5078 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch UMLS:C1335193 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch UMLS:C3809874 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:8619 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:PAX5 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch ncbigene:5079 semapv:UnspecifiedMatching -OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:8622 semapv:UnspecifiedMatching -OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:PAX8 semapv:UnspecifiedMatching -OMIM:167415 PAX8 skos:exactMatch ncbigene:7849 semapv:UnspecifiedMatching -OMIM:167416 PAX9 skos:exactMatch UMLS:C1418278 semapv:UnspecifiedMatching -OMIM:167416 PAX9 skos:exactMatch UMLS:C1970291 semapv:UnspecifiedMatching -OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:8623 semapv:UnspecifiedMatching -OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:PAX9 semapv:UnspecifiedMatching -OMIM:167416 PAX9 skos:exactMatch ncbigene:5083 semapv:UnspecifiedMatching -OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:9142 semapv:UnspecifiedMatching -OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:PRRX1 semapv:UnspecifiedMatching -OMIM:167420 PRRX1 skos:exactMatch ncbigene:5396 semapv:UnspecifiedMatching -OMIM:167770 REG1A skos:exactMatch hgnc.symbol:9951 semapv:UnspecifiedMatching -OMIM:167770 REG1A skos:exactMatch hgnc.symbol:REG1A semapv:UnspecifiedMatching -OMIM:167770 REG1A skos:exactMatch ncbigene:5967 semapv:UnspecifiedMatching -OMIM:167771 REG1B skos:exactMatch hgnc.symbol:9952 semapv:UnspecifiedMatching -OMIM:167771 REG1B skos:exactMatch hgnc.symbol:REG1B semapv:UnspecifiedMatching -OMIM:167771 REG1B skos:exactMatch ncbigene:5968 semapv:UnspecifiedMatching -OMIM:167780 PPY skos:exactMatch hgnc.symbol:9327 semapv:UnspecifiedMatching -OMIM:167780 PPY skos:exactMatch hgnc.symbol:PPY semapv:UnspecifiedMatching -OMIM:167780 PPY skos:exactMatch ncbigene:5539 semapv:UnspecifiedMatching -OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:11244 semapv:UnspecifiedMatching -OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:SPINK1 semapv:UnspecifiedMatching -OMIM:167790 SPINK1 skos:exactMatch ncbigene:6690 semapv:UnspecifiedMatching -OMIM:167800 pancreatitis, hereditary skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching -OMIM:167800 pancreatitis, hereditary skos:exactMatch UMLS:C0238339 semapv:UnspecifiedMatching -OMIM:167805 REG3A skos:exactMatch hgnc.symbol:8601 semapv:UnspecifiedMatching -OMIM:167805 REG3A skos:exactMatch hgnc.symbol:REG3A semapv:UnspecifiedMatching -OMIM:167805 REG3A skos:exactMatch ncbigene:5068 semapv:UnspecifiedMatching -OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:5166 semapv:UnspecifiedMatching -OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:HPV18I1 semapv:UnspecifiedMatching -OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:5167 semapv:UnspecifiedMatching -OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:HPV18I2 semapv:UnspecifiedMatching -OMIM:168360 ELAVL4 skos:exactMatch UMLS:C1414374 semapv:UnspecifiedMatching -OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:3315 semapv:UnspecifiedMatching -OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:ELAVL4 semapv:UnspecifiedMatching -OMIM:168360 ELAVL4 skos:exactMatch ncbigene:1996 semapv:UnspecifiedMatching -OMIM:168440 PTMS skos:exactMatch hgnc.symbol:9629 semapv:UnspecifiedMatching -OMIM:168440 PTMS skos:exactMatch hgnc.symbol:PTMS semapv:UnspecifiedMatching -OMIM:168440 PTMS skos:exactMatch ncbigene:5763 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch UMLS:C0221002 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch UMLS:C1419072 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch hgnc.symbol:9606 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch hgnc.symbol:PTH semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch ncbigene:5741 semapv:UnspecifiedMatching -OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:1582 semapv:UnspecifiedMatching -OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:CCND1 semapv:UnspecifiedMatching -OMIM:168461 CCND1 skos:exactMatch ncbigene:595 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C0265295 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C1419073 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch UMLS:C1859148 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:9608 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:PTH1R semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch ncbigene:5745 semapv:UnspecifiedMatching -OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:9607 semapv:UnspecifiedMatching -OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:PTHLH semapv:UnspecifiedMatching -OMIM:168470 PTHLH skos:exactMatch ncbigene:5744 semapv:UnspecifiedMatching -OMIM:168600 parkinson disease, late-onset skos:exactMatch UMLS:C3160718 semapv:UnspecifiedMatching -OMIM:168605 perry syndrome skos:exactMatch Orphanet:178509 semapv:UnspecifiedMatching -OMIM:168605 perry syndrome skos:exactMatch UMLS:C1868594 semapv:UnspecifiedMatching -OMIM:168730 PRH1 skos:exactMatch hgnc.symbol:9366 semapv:UnspecifiedMatching -OMIM:168730 PRH1 skos:exactMatch hgnc.symbol:PRH1 semapv:UnspecifiedMatching -OMIM:168730 PRH1 skos:exactMatch ncbigene:5554 semapv:UnspecifiedMatching -OMIM:168790 PRH2 skos:exactMatch hgnc.symbol:9367 semapv:UnspecifiedMatching -OMIM:168790 PRH2 skos:exactMatch hgnc.symbol:PRH2 semapv:UnspecifiedMatching -OMIM:168790 PRH2 skos:exactMatch ncbigene:5555 semapv:UnspecifiedMatching -OMIM:168810 PRB2 skos:exactMatch hgnc.symbol:9338 semapv:UnspecifiedMatching -OMIM:168810 PRB2 skos:exactMatch hgnc.symbol:PRB2 semapv:UnspecifiedMatching -OMIM:168810 PRB2 skos:exactMatch ncbigene:653247 semapv:UnspecifiedMatching -OMIM:168820 PON1 skos:exactMatch hgnc.symbol:9204 semapv:UnspecifiedMatching -OMIM:168820 PON1 skos:exactMatch hgnc.symbol:PON1 semapv:UnspecifiedMatching -OMIM:168820 PON1 skos:exactMatch ncbigene:5444 semapv:UnspecifiedMatching -OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:9339 semapv:UnspecifiedMatching -OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:PRB3 semapv:UnspecifiedMatching -OMIM:168840 PRB3 skos:exactMatch ncbigene:5544 semapv:UnspecifiedMatching -OMIM:168890 PVALB skos:exactMatch hgnc.symbol:9704 semapv:UnspecifiedMatching -OMIM:168890 PVALB skos:exactMatch hgnc.symbol:PVALB semapv:UnspecifiedMatching -OMIM:168890 PVALB skos:exactMatch ncbigene:5816 semapv:UnspecifiedMatching -OMIM:169190 CDK18 skos:exactMatch hgnc.symbol:8751 semapv:UnspecifiedMatching -OMIM:169190 CDK18 skos:exactMatch hgnc.symbol:CDK18 semapv:UnspecifiedMatching -OMIM:169190 CDK18 skos:exactMatch ncbigene:5129 semapv:UnspecifiedMatching -OMIM:169615 DSG3 skos:exactMatch hgnc.symbol:3050 semapv:UnspecifiedMatching -OMIM:169615 DSG3 skos:exactMatch hgnc.symbol:DSG3 semapv:UnspecifiedMatching -OMIM:169615 DSG3 skos:exactMatch ncbigene:1830 semapv:UnspecifiedMatching -OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc.symbol:8885 semapv:UnspecifiedMatching -OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc.symbol:PGA3 semapv:UnspecifiedMatching -OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:8886 semapv:UnspecifiedMatching -OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:PGA4 semapv:UnspecifiedMatching -OMIM:169720 PGA4 skos:exactMatch ncbigene:643847 semapv:UnspecifiedMatching -OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:8887 semapv:UnspecifiedMatching -OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:PGA5 semapv:UnspecifiedMatching -OMIM:169730 PGA5 skos:exactMatch ncbigene:5222 semapv:UnspecifiedMatching -OMIM:169740 PGC skos:exactMatch hgnc.symbol:8890 semapv:UnspecifiedMatching -OMIM:169740 PGC skos:exactMatch hgnc.symbol:PGC semapv:UnspecifiedMatching -OMIM:169740 PGC skos:exactMatch ncbigene:5225 semapv:UnspecifiedMatching -OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:24437 semapv:UnspecifiedMatching -OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:CNDP2 semapv:UnspecifiedMatching -OMIM:169800 CNDP2 skos:exactMatch ncbigene:55748 semapv:UnspecifiedMatching -OMIM:169900 PEPB skos:exactMatch hgnc.symbol:8838 semapv:UnspecifiedMatching -OMIM:169900 PEPB skos:exactMatch hgnc.symbol:PEPB semapv:UnspecifiedMatching -OMIM:169900 PEPB skos:exactMatch ncbigene:5182 semapv:UnspecifiedMatching -OMIM:170000 PEPC skos:exactMatch hgnc.symbol:8839 semapv:UnspecifiedMatching -OMIM:170000 PEPC skos:exactMatch hgnc.symbol:PEPC semapv:UnspecifiedMatching -OMIM:170000 PEPC skos:exactMatch ncbigene:5183 semapv:UnspecifiedMatching -OMIM:170200 PEPE skos:exactMatch hgnc.symbol:8841 semapv:UnspecifiedMatching -OMIM:170200 PEPE skos:exactMatch hgnc.symbol:PEPE semapv:UnspecifiedMatching -OMIM:170200 PEPE skos:exactMatch ncbigene:5185 semapv:UnspecifiedMatching -OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:18449 semapv:UnspecifiedMatching -OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:LAP3 semapv:UnspecifiedMatching -OMIM:170250 LAP3 skos:exactMatch ncbigene:51056 semapv:UnspecifiedMatching -OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:43 semapv:UnspecifiedMatching -OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:TAP1 semapv:UnspecifiedMatching -OMIM:170260 TAP1 skos:exactMatch ncbigene:6890 semapv:UnspecifiedMatching -OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:44 semapv:UnspecifiedMatching -OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:TAP2 semapv:UnspecifiedMatching -OMIM:170261 TAP2 skos:exactMatch ncbigene:6891 semapv:UnspecifiedMatching -OMIM:170270 PAM skos:exactMatch hgnc.symbol:8596 semapv:UnspecifiedMatching -OMIM:170270 PAM skos:exactMatch hgnc.symbol:PAM semapv:UnspecifiedMatching -OMIM:170270 PAM skos:exactMatch ncbigene:5066 semapv:UnspecifiedMatching -OMIM:170280 PRF1 skos:exactMatch hgnc.symbol:9360 semapv:UnspecifiedMatching -OMIM:170280 PRF1 skos:exactMatch hgnc.symbol:PRF1 semapv:UnspecifiedMatching -OMIM:170280 PRF1 skos:exactMatch ncbigene:5551 semapv:UnspecifiedMatching -OMIM:170285 NUP85 skos:exactMatch hgnc.symbol:8734 semapv:UnspecifiedMatching -OMIM:170285 NUP85 skos:exactMatch hgnc.symbol:NUP85 semapv:UnspecifiedMatching -OMIM:170285 NUP85 skos:exactMatch ncbigene:79902 semapv:UnspecifiedMatching -OMIM:170290 PLIN1 skos:exactMatch hgnc.symbol:9076 semapv:UnspecifiedMatching -OMIM:170290 PLIN1 skos:exactMatch hgnc.symbol:PLIN1 semapv:UnspecifiedMatching -OMIM:170290 PLIN1 skos:exactMatch ncbigene:5346 semapv:UnspecifiedMatching -OMIM:170710 PRPH skos:exactMatch hgnc.symbol:9461 semapv:UnspecifiedMatching -OMIM:170710 PRPH skos:exactMatch hgnc.symbol:PRPH semapv:UnspecifiedMatching -OMIM:170710 PRPH skos:exactMatch ncbigene:5630 semapv:UnspecifiedMatching -OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:9117 semapv:UnspecifiedMatching -OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:PMP2 semapv:UnspecifiedMatching -OMIM:170715 PMP2 skos:exactMatch ncbigene:5375 semapv:UnspecifiedMatching -OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:9717 semapv:UnspecifiedMatching -OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:PEX2 semapv:UnspecifiedMatching -OMIM:170993 PEX2 skos:exactMatch ncbigene:5828 semapv:UnspecifiedMatching -OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:67 semapv:UnspecifiedMatching -OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:ABCD3 semapv:UnspecifiedMatching -OMIM:170995 ABCD3 skos:exactMatch ncbigene:5825 semapv:UnspecifiedMatching -OMIM:170998 PPARA skos:exactMatch hgnc.symbol:9232 semapv:UnspecifiedMatching -OMIM:170998 PPARA skos:exactMatch hgnc.symbol:PPARA semapv:UnspecifiedMatching -OMIM:170998 PPARA skos:exactMatch ncbigene:5465 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch UMLS:C0376622 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch UMLS:C1861502 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch UMLS:C4016315 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch UMLS:C4016316 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch hgnc.symbol:40 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch hgnc.symbol:ABCB1 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch ncbigene:5243 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch UMLS:C1412071 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch UMLS:C1865643 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch UMLS:C3550019 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:45 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:ABCB4 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch ncbigene:5244 semapv:UnspecifiedMatching -OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:11453 semapv:UnspecifiedMatching -OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:SULT1A1 semapv:UnspecifiedMatching -OMIM:171150 SULT1A1 skos:exactMatch ncbigene:6817 semapv:UnspecifiedMatching -OMIM:171190 PNMT skos:exactMatch hgnc.symbol:9160 semapv:UnspecifiedMatching -OMIM:171190 PNMT skos:exactMatch hgnc.symbol:PNMT semapv:UnspecifiedMatching -OMIM:171190 PNMT skos:exactMatch ncbigene:5409 semapv:UnspecifiedMatching -OMIM:171300 pheochromocytoma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching -OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching -OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching -OMIM:171490 PDC skos:exactMatch hgnc.symbol:8759 semapv:UnspecifiedMatching -OMIM:171490 PDC skos:exactMatch hgnc.symbol:PDC semapv:UnspecifiedMatching -OMIM:171490 PDC skos:exactMatch ncbigene:5132 semapv:UnspecifiedMatching -OMIM:171500 ACP1 skos:exactMatch UMLS:C1412131 semapv:UnspecifiedMatching -OMIM:171500 ACP1 skos:exactMatch UMLS:C4016317 semapv:UnspecifiedMatching -OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:122 semapv:UnspecifiedMatching -OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:ACP1 semapv:UnspecifiedMatching -OMIM:171500 ACP1 skos:exactMatch ncbigene:52 semapv:UnspecifiedMatching -OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:124 semapv:UnspecifiedMatching -OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:ACP5 semapv:UnspecifiedMatching -OMIM:171640 ACP5 skos:exactMatch ncbigene:54 semapv:UnspecifiedMatching -OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:123 semapv:UnspecifiedMatching -OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:ACP2 semapv:UnspecifiedMatching -OMIM:171650 ACP2 skos:exactMatch ncbigene:53 semapv:UnspecifiedMatching -OMIM:171740 ALPI skos:exactMatch hgnc.symbol:437 semapv:UnspecifiedMatching -OMIM:171740 ALPI skos:exactMatch hgnc.symbol:ALPI semapv:UnspecifiedMatching -OMIM:171740 ALPI skos:exactMatch ncbigene:248 semapv:UnspecifiedMatching -OMIM:171760 ALPL skos:exactMatch hgnc.symbol:438 semapv:UnspecifiedMatching -OMIM:171760 ALPL skos:exactMatch hgnc.symbol:ALPL semapv:UnspecifiedMatching -OMIM:171760 ALPL skos:exactMatch ncbigene:249 semapv:UnspecifiedMatching -OMIM:171790 ACPP skos:exactMatch hgnc.symbol:125 semapv:UnspecifiedMatching -OMIM:171790 ACPP skos:exactMatch hgnc.symbol:ACP3 semapv:UnspecifiedMatching -OMIM:171790 ACPP skos:exactMatch ncbigene:55 semapv:UnspecifiedMatching -OMIM:171800 ALPP skos:exactMatch hgnc.symbol:439 semapv:UnspecifiedMatching -OMIM:171800 ALPP skos:exactMatch hgnc.symbol:ALPP semapv:UnspecifiedMatching -OMIM:171800 ALPP skos:exactMatch ncbigene:250 semapv:UnspecifiedMatching -OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:441 semapv:UnspecifiedMatching -OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:ALPG semapv:UnspecifiedMatching -OMIM:171810 ALPPL2 skos:exactMatch ncbigene:251 semapv:UnspecifiedMatching -OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:8979 semapv:UnspecifiedMatching -OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:PIK3R1 semapv:UnspecifiedMatching -OMIM:171833 PIK3R1 skos:exactMatch ncbigene:5295 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C1335212 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C1868358 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674643 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C3550023 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C3550024 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C3554518 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749056 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749057 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:8975 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:PIK3CA semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch ncbigene:5290 semapv:UnspecifiedMatching -OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:8873 semapv:UnspecifiedMatching -OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:PFKFB2 semapv:UnspecifiedMatching -OMIM:171835 PFKFB2 skos:exactMatch ncbigene:5208 semapv:UnspecifiedMatching -OMIM:171840 PFKP skos:exactMatch UMLS:C1418493 semapv:UnspecifiedMatching -OMIM:171840 PFKP skos:exactMatch hgnc.symbol:8878 semapv:UnspecifiedMatching -OMIM:171840 PFKP skos:exactMatch hgnc.symbol:PFKP semapv:UnspecifiedMatching -OMIM:171840 PFKP skos:exactMatch ncbigene:5214 semapv:UnspecifiedMatching -OMIM:171860 PFKL skos:exactMatch hgnc.symbol:8876 semapv:UnspecifiedMatching -OMIM:171860 PFKL skos:exactMatch hgnc.symbol:PFKL semapv:UnspecifiedMatching -OMIM:171860 PFKL skos:exactMatch ncbigene:5211 semapv:UnspecifiedMatching -OMIM:171885 PDE7A skos:exactMatch UMLS:C1418431 semapv:UnspecifiedMatching -OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:8791 semapv:UnspecifiedMatching -OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:PDE7A semapv:UnspecifiedMatching -OMIM:171885 PDE7A skos:exactMatch ncbigene:5150 semapv:UnspecifiedMatching -OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:8774 semapv:UnspecifiedMatching -OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:PDE1A semapv:UnspecifiedMatching -OMIM:171890 PDE1A skos:exactMatch ncbigene:5136 semapv:UnspecifiedMatching -OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:8775 semapv:UnspecifiedMatching -OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:PDE1B semapv:UnspecifiedMatching -OMIM:171891 PDE1B skos:exactMatch ncbigene:5153 semapv:UnspecifiedMatching -OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:8905 semapv:UnspecifiedMatching -OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:PGM1 semapv:UnspecifiedMatching -OMIM:171900 PGM1 skos:exactMatch ncbigene:5236 semapv:UnspecifiedMatching -OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:8906 semapv:UnspecifiedMatching -OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:PGM2 semapv:UnspecifiedMatching -OMIM:172000 PGM2 skos:exactMatch ncbigene:55276 semapv:UnspecifiedMatching -OMIM:172100 PGM3 skos:exactMatch UMLS:C1418518 semapv:UnspecifiedMatching -OMIM:172100 PGM3 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching -OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:8907 semapv:UnspecifiedMatching -OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:PGM3 semapv:UnspecifiedMatching -OMIM:172100 PGM3 skos:exactMatch ncbigene:5238 semapv:UnspecifiedMatching -OMIM:172200 PGD skos:exactMatch hgnc.symbol:8891 semapv:UnspecifiedMatching -OMIM:172200 PGD skos:exactMatch hgnc.symbol:PGD semapv:UnspecifiedMatching -OMIM:172200 PGD skos:exactMatch ncbigene:5226 semapv:UnspecifiedMatching -OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:8888 semapv:UnspecifiedMatching -OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:PGAM1 semapv:UnspecifiedMatching -OMIM:172250 PGAM1 skos:exactMatch ncbigene:5223 semapv:UnspecifiedMatching -OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:8898 semapv:UnspecifiedMatching -OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:PGK2 semapv:UnspecifiedMatching -OMIM:172270 PGK2 skos:exactMatch ncbigene:5232 semapv:UnspecifiedMatching -OMIM:172280 PGP skos:exactMatch hgnc.symbol:8909 semapv:UnspecifiedMatching -OMIM:172280 PGP skos:exactMatch hgnc.symbol:PGP semapv:UnspecifiedMatching -OMIM:172280 PGP skos:exactMatch ncbigene:283871 semapv:UnspecifiedMatching -OMIM:172400 GPI skos:exactMatch hgnc.symbol:4458 semapv:UnspecifiedMatching -OMIM:172400 GPI skos:exactMatch hgnc.symbol:GPI semapv:UnspecifiedMatching -OMIM:172400 GPI skos:exactMatch ncbigene:2821 semapv:UnspecifiedMatching -OMIM:172405 PLN skos:exactMatch hgnc.symbol:9080 semapv:UnspecifiedMatching -OMIM:172405 PLN skos:exactMatch hgnc.symbol:PLN semapv:UnspecifiedMatching -OMIM:172405 PLN skos:exactMatch ncbigene:5350 semapv:UnspecifiedMatching -OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:9030 semapv:UnspecifiedMatching -OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:PLA2G1B semapv:UnspecifiedMatching -OMIM:172410 PLA2G1B skos:exactMatch ncbigene:5319 semapv:UnspecifiedMatching -OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:9031 semapv:UnspecifiedMatching -OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:PLA2G2A semapv:UnspecifiedMatching -OMIM:172411 PLA2G2A skos:exactMatch ncbigene:5320 semapv:UnspecifiedMatching -OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:9065 semapv:UnspecifiedMatching -OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:PLCG1 semapv:UnspecifiedMatching -OMIM:172420 PLCG1 skos:exactMatch ncbigene:5335 semapv:UnspecifiedMatching -OMIM:172425 PLTP skos:exactMatch hgnc.symbol:9093 semapv:UnspecifiedMatching -OMIM:172425 PLTP skos:exactMatch hgnc.symbol:PLTP semapv:UnspecifiedMatching -OMIM:172425 PLTP skos:exactMatch ncbigene:5360 semapv:UnspecifiedMatching -OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:3350 semapv:UnspecifiedMatching -OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:ENO1 semapv:UnspecifiedMatching -OMIM:172430 ENO1 skos:exactMatch ncbigene:2023 semapv:UnspecifiedMatching -OMIM:172439 PAICS skos:exactMatch hgnc.symbol:8587 semapv:UnspecifiedMatching -OMIM:172439 PAICS skos:exactMatch hgnc.symbol:PAICS semapv:UnspecifiedMatching -OMIM:172439 PAICS skos:exactMatch ncbigene:10606 semapv:UnspecifiedMatching -OMIM:172450 PPAT skos:exactMatch hgnc.symbol:9238 semapv:UnspecifiedMatching -OMIM:172450 PPAT skos:exactMatch hgnc.symbol:PPAT semapv:UnspecifiedMatching -OMIM:172450 PPAT skos:exactMatch ncbigene:5471 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C1417420 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016262 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016322 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540543 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540670 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:7432 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:MTHFD1 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch ncbigene:4522 semapv:UnspecifiedMatching -OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:8930 semapv:UnspecifiedMatching -OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:PHKG1 semapv:UnspecifiedMatching -OMIM:172470 PHKG1 skos:exactMatch ncbigene:5260 semapv:UnspecifiedMatching -OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:8931 semapv:UnspecifiedMatching -OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:PHKG2 semapv:UnspecifiedMatching -OMIM:172471 PHKG2 skos:exactMatch ncbigene:5261 semapv:UnspecifiedMatching -OMIM:172480 PSPH skos:exactMatch hgnc.symbol:9577 semapv:UnspecifiedMatching -OMIM:172480 PSPH skos:exactMatch hgnc.symbol:PSPH semapv:UnspecifiedMatching -OMIM:172480 PSPH skos:exactMatch ncbigene:5723 semapv:UnspecifiedMatching -OMIM:172490 PHKB skos:exactMatch hgnc.symbol:8927 semapv:UnspecifiedMatching -OMIM:172490 PHKB skos:exactMatch hgnc.symbol:PHKB semapv:UnspecifiedMatching -OMIM:172490 PHKB skos:exactMatch ncbigene:5257 semapv:UnspecifiedMatching -OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:8824 semapv:UnspecifiedMatching -OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:SERPINF1 semapv:UnspecifiedMatching -OMIM:172860 SERPINF1 skos:exactMatch ncbigene:5176 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch UMLS:C1418759 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch UMLS:C2751608 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:9210 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:POU1F1 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch ncbigene:5449 semapv:UnspecifiedMatching -OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:10816 semapv:UnspecifiedMatching -OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:SCG5 semapv:UnspecifiedMatching -OMIM:173120 SGNE1 skos:exactMatch ncbigene:6447 semapv:UnspecifiedMatching -OMIM:173310 PAEP skos:exactMatch hgnc.symbol:8573 semapv:UnspecifiedMatching -OMIM:173310 PAEP skos:exactMatch hgnc.symbol:PAEP semapv:UnspecifiedMatching -OMIM:173310 PAEP skos:exactMatch ncbigene:5047 semapv:UnspecifiedMatching -OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:10074 semapv:UnspecifiedMatching -OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:RNH1 semapv:UnspecifiedMatching -OMIM:173320 RNH1 skos:exactMatch ncbigene:6050 semapv:UnspecifiedMatching -OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:8950 semapv:UnspecifiedMatching -OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:SERPINB6 semapv:UnspecifiedMatching -OMIM:173321 SERPINB6 skos:exactMatch ncbigene:5269 semapv:UnspecifiedMatching -OMIM:173325 JUP skos:exactMatch hgnc.symbol:6207 semapv:UnspecifiedMatching -OMIM:173325 JUP skos:exactMatch hgnc.symbol:JUP semapv:UnspecifiedMatching -OMIM:173325 JUP skos:exactMatch ncbigene:3728 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C1414407 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C1866432 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C2750078 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C3809781 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch UMLS:C5436943 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:3356 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:ENPP1 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch ncbigene:5167 semapv:UnspecifiedMatching -OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:9072 semapv:UnspecifiedMatching -OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:PLGLB1 semapv:UnspecifiedMatching -OMIM:173340 PLGLB1 skos:exactMatch ncbigene:5343 semapv:UnspecifiedMatching -OMIM:173350 PLG skos:exactMatch hgnc.symbol:9071 semapv:UnspecifiedMatching -OMIM:173350 PLG skos:exactMatch hgnc.symbol:PLG semapv:UnspecifiedMatching -OMIM:173350 PLG skos:exactMatch ncbigene:5340 semapv:UnspecifiedMatching -OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:8583 semapv:UnspecifiedMatching -OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:SERPINE1 semapv:UnspecifiedMatching -OMIM:173360 SERPINE1 skos:exactMatch ncbigene:5054 semapv:UnspecifiedMatching -OMIM:173370 PLAT skos:exactMatch hgnc.symbol:9051 semapv:UnspecifiedMatching -OMIM:173370 PLAT skos:exactMatch hgnc.symbol:PLAT semapv:UnspecifiedMatching -OMIM:173370 PLAT skos:exactMatch ncbigene:5327 semapv:UnspecifiedMatching -OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:8584 semapv:UnspecifiedMatching -OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:SERPINB2 semapv:UnspecifiedMatching -OMIM:173390 SERPINB2 skos:exactMatch ncbigene:5055 semapv:UnspecifiedMatching -OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:9053 semapv:UnspecifiedMatching -OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:PLAUR semapv:UnspecifiedMatching -OMIM:173391 PLAUR skos:exactMatch ncbigene:5329 semapv:UnspecifiedMatching -OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:9582 semapv:UnspecifiedMatching -OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:PTAFR semapv:UnspecifiedMatching -OMIM:173393 PTAFR skos:exactMatch ncbigene:5724 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C1335202 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C1866182 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C3554321 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:8804 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:PDGFRB semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch ncbigene:5159 semapv:UnspecifiedMatching -OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:8799 semapv:UnspecifiedMatching -OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:PDGFA semapv:UnspecifiedMatching -OMIM:173430 PDGFA skos:exactMatch ncbigene:5154 semapv:UnspecifiedMatching -OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:8823 semapv:UnspecifiedMatching -OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:PECAM1 semapv:UnspecifiedMatching -OMIM:173445 PECAM1 skos:exactMatch ncbigene:5175 semapv:UnspecifiedMatching -OMIM:173460 PF4 skos:exactMatch hgnc.symbol:8861 semapv:UnspecifiedMatching -OMIM:173460 PF4 skos:exactMatch hgnc.symbol:PF4 semapv:UnspecifiedMatching -OMIM:173460 PF4 skos:exactMatch ncbigene:5196 semapv:UnspecifiedMatching -OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:8862 semapv:UnspecifiedMatching -OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:PF4V1 semapv:UnspecifiedMatching -OMIM:173461 PF4V1 skos:exactMatch ncbigene:5197 semapv:UnspecifiedMatching -OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:6156 semapv:UnspecifiedMatching -OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:ITGB3 semapv:UnspecifiedMatching -OMIM:173470 ITGB3 skos:exactMatch ncbigene:3690 semapv:UnspecifiedMatching -OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:8803 semapv:UnspecifiedMatching -OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:PDGFRA semapv:UnspecifiedMatching -OMIM:173490 PDGFRA skos:exactMatch ncbigene:5156 semapv:UnspecifiedMatching -OMIM:173510 CD36 skos:exactMatch hgnc.symbol:1663 semapv:UnspecifiedMatching -OMIM:173510 CD36 skos:exactMatch hgnc.symbol:CD36 semapv:UnspecifiedMatching -OMIM:173510 CD36 skos:exactMatch ncbigene:948 semapv:UnspecifiedMatching -OMIM:173511 GP5 skos:exactMatch hgnc.symbol:4443 semapv:UnspecifiedMatching -OMIM:173511 GP5 skos:exactMatch hgnc.symbol:GP5 semapv:UnspecifiedMatching -OMIM:173511 GP5 skos:exactMatch ncbigene:2814 semapv:UnspecifiedMatching -OMIM:173515 GP9 skos:exactMatch hgnc.symbol:4444 semapv:UnspecifiedMatching -OMIM:173515 GP9 skos:exactMatch hgnc.symbol:GP9 semapv:UnspecifiedMatching -OMIM:173515 GP9 skos:exactMatch ncbigene:2815 semapv:UnspecifiedMatching -OMIM:173570 PLEK skos:exactMatch hgnc.symbol:9070 semapv:UnspecifiedMatching -OMIM:173570 PLEK skos:exactMatch hgnc.symbol:PLEK semapv:UnspecifiedMatching -OMIM:173570 PLEK skos:exactMatch ncbigene:5341 semapv:UnspecifiedMatching -OMIM:173610 SELP skos:exactMatch hgnc.symbol:10721 semapv:UnspecifiedMatching -OMIM:173610 SELP skos:exactMatch hgnc.symbol:SELP semapv:UnspecifiedMatching -OMIM:173610 SELP skos:exactMatch ncbigene:6403 semapv:UnspecifiedMatching -OMIM:173850 PVR skos:exactMatch hgnc.symbol:9705 semapv:UnspecifiedMatching -OMIM:173850 PVR skos:exactMatch hgnc.symbol:PVR semapv:UnspecifiedMatching -OMIM:173850 PVR skos:exactMatch ncbigene:5817 semapv:UnspecifiedMatching -OMIM:173870 PARP1 skos:exactMatch UMLS:C1538577 semapv:UnspecifiedMatching -OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:270 semapv:UnspecifiedMatching -OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:PARP1 semapv:UnspecifiedMatching -OMIM:173870 PARP1 skos:exactMatch ncbigene:142 semapv:UnspecifiedMatching -OMIM:173880 PIGR skos:exactMatch hgnc.symbol:8968 semapv:UnspecifiedMatching -OMIM:173880 PIGR skos:exactMatch hgnc.symbol:PIGR semapv:UnspecifiedMatching -OMIM:173880 PIGR skos:exactMatch ncbigene:5284 semapv:UnspecifiedMatching -OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:9009 semapv:UnspecifiedMatching -OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:PKD2 semapv:UnspecifiedMatching -OMIM:173910 PKD2 skos:exactMatch ncbigene:5311 semapv:UnspecifiedMatching -OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch Orphanet:2919 semapv:UnspecifiedMatching -OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching -OMIM:174760 POLB skos:exactMatch hgnc.symbol:9174 semapv:UnspecifiedMatching -OMIM:174760 POLB skos:exactMatch hgnc.symbol:POLB semapv:UnspecifiedMatching -OMIM:174760 POLB skos:exactMatch ncbigene:5423 semapv:UnspecifiedMatching -OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:9175 semapv:UnspecifiedMatching -OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:POLD1 semapv:UnspecifiedMatching -OMIM:174761 POLD1 skos:exactMatch ncbigene:5424 semapv:UnspecifiedMatching -OMIM:174762 POLE skos:exactMatch hgnc.symbol:9177 semapv:UnspecifiedMatching -OMIM:174762 POLE skos:exactMatch hgnc.symbol:POLE semapv:UnspecifiedMatching -OMIM:174762 POLE skos:exactMatch ncbigene:5426 semapv:UnspecifiedMatching -OMIM:174763 POLG skos:exactMatch hgnc.symbol:9179 semapv:UnspecifiedMatching -OMIM:174763 POLG skos:exactMatch hgnc.symbol:POLG semapv:UnspecifiedMatching -OMIM:174763 POLG skos:exactMatch ncbigene:5428 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:247806 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2674616 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2713442 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C2675650 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4551998 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0268322 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C2936779 semapv:UnspecifiedMatching -OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:6234 semapv:UnspecifiedMatching -OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:KCNC2 semapv:UnspecifiedMatching -OMIM:176256 KCNC2 skos:exactMatch ncbigene:3747 semapv:UnspecifiedMatching -OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:6225 semapv:UnspecifiedMatching -OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:KCNA6 semapv:UnspecifiedMatching -OMIM:176257 KCNA6 skos:exactMatch ncbigene:3742 semapv:UnspecifiedMatching -OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:6233 semapv:UnspecifiedMatching -OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:KCNC1 semapv:UnspecifiedMatching -OMIM:176258 KCNC1 skos:exactMatch ncbigene:3746 semapv:UnspecifiedMatching -OMIM:176260 KCNA1 skos:exactMatch hgnc.symbol:6218 semapv:UnspecifiedMatching -OMIM:176260 KCNA1 skos:exactMatch hgnc.symbol:KCNA1 semapv:UnspecifiedMatching -OMIM:176260 KCNA1 skos:exactMatch ncbigene:3736 semapv:UnspecifiedMatching -OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:6240 semapv:UnspecifiedMatching -OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:KCNE1 semapv:UnspecifiedMatching -OMIM:176261 KCNE1 skos:exactMatch ncbigene:3753 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch UMLS:C1416545 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:6220 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:KCNA2 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch ncbigene:3737 semapv:UnspecifiedMatching -OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:6221 semapv:UnspecifiedMatching -OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:KCNA3 semapv:UnspecifiedMatching -OMIM:176263 KCNA3 skos:exactMatch ncbigene:3738 semapv:UnspecifiedMatching -OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:6235 semapv:UnspecifiedMatching -OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:KCNC3 semapv:UnspecifiedMatching -OMIM:176264 KCNC3 skos:exactMatch ncbigene:3748 semapv:UnspecifiedMatching -OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:6236 semapv:UnspecifiedMatching -OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:KCNC4 semapv:UnspecifiedMatching -OMIM:176265 KCNC4 skos:exactMatch ncbigene:3749 semapv:UnspecifiedMatching -OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:6222 semapv:UnspecifiedMatching -OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:KCNA4 semapv:UnspecifiedMatching -OMIM:176266 KCNA4 skos:exactMatch ncbigene:3739 semapv:UnspecifiedMatching -OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:6224 semapv:UnspecifiedMatching -OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:KCNA5 semapv:UnspecifiedMatching -OMIM:176267 KCNA5 skos:exactMatch ncbigene:3741 semapv:UnspecifiedMatching -OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:6226 semapv:UnspecifiedMatching -OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:KCNA7 semapv:UnspecifiedMatching -OMIM:176268 KCNA7 skos:exactMatch ncbigene:3743 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177907 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177910 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:98754 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch UMLS:C0032897 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch UMLS:C1867858 semapv:UnspecifiedMatching -OMIM:176290 DLK1 skos:exactMatch UMLS:C1414069 semapv:UnspecifiedMatching -OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:2907 semapv:UnspecifiedMatching -OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:DLK1 semapv:UnspecifiedMatching -OMIM:176290 DLK1 skos:exactMatch ncbigene:8788 semapv:UnspecifiedMatching -OMIM:176300 TTR skos:exactMatch hgnc.symbol:12405 semapv:UnspecifiedMatching -OMIM:176300 TTR skos:exactMatch hgnc.symbol:TTR semapv:UnspecifiedMatching -OMIM:176300 TTR skos:exactMatch ncbigene:7276 semapv:UnspecifiedMatching -OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch Orphanet:2957 semapv:UnspecifiedMatching -OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch UMLS:C1867801 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C1418285 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C1418287 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4539968 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4540544 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4693971 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4693972 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch UMLS:C4693973 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:8632 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:PBX1 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch ncbigene:5087 semapv:UnspecifiedMatching -OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:8633 semapv:UnspecifiedMatching -OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:PBX2 semapv:UnspecifiedMatching -OMIM:176311 PBX2 skos:exactMatch ncbigene:5089 semapv:UnspecifiedMatching -OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:8634 semapv:UnspecifiedMatching -OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:PBX3 semapv:UnspecifiedMatching -OMIM:176312 PBX3 skos:exactMatch ncbigene:5090 semapv:UnspecifiedMatching -OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:8602 semapv:UnspecifiedMatching -OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:PAPPA semapv:UnspecifiedMatching -OMIM:176385 PAPPA skos:exactMatch ncbigene:5069 semapv:UnspecifiedMatching -OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:9514 semapv:UnspecifiedMatching -OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:PSG1 semapv:UnspecifiedMatching -OMIM:176390 PSG1 skos:exactMatch ncbigene:5669 semapv:UnspecifiedMatching -OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:9519 semapv:UnspecifiedMatching -OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:PSG2 semapv:UnspecifiedMatching -OMIM:176391 PSG2 skos:exactMatch ncbigene:5670 semapv:UnspecifiedMatching -OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:9520 semapv:UnspecifiedMatching -OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:PSG3 semapv:UnspecifiedMatching -OMIM:176392 PSG3 skos:exactMatch ncbigene:5671 semapv:UnspecifiedMatching -OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:9521 semapv:UnspecifiedMatching -OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:PSG4 semapv:UnspecifiedMatching -OMIM:176393 PSG4 skos:exactMatch ncbigene:5672 semapv:UnspecifiedMatching -OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:9522 semapv:UnspecifiedMatching -OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:PSG5 semapv:UnspecifiedMatching -OMIM:176394 PSG5 skos:exactMatch ncbigene:5673 semapv:UnspecifiedMatching -OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:9523 semapv:UnspecifiedMatching -OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:PSG6 semapv:UnspecifiedMatching -OMIM:176395 PSG6 skos:exactMatch ncbigene:5675 semapv:UnspecifiedMatching -OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:9524 semapv:UnspecifiedMatching -OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:PSG7 semapv:UnspecifiedMatching -OMIM:176396 PSG7 skos:exactMatch ncbigene:5676 semapv:UnspecifiedMatching -OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:9525 semapv:UnspecifiedMatching -OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:PSG8 semapv:UnspecifiedMatching -OMIM:176397 PSG8 skos:exactMatch ncbigene:440533 semapv:UnspecifiedMatching -OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:9526 semapv:UnspecifiedMatching -OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:PSG9 semapv:UnspecifiedMatching -OMIM:176398 PSG9 skos:exactMatch ncbigene:5678 semapv:UnspecifiedMatching -OMIM:176399 PSG10P skos:exactMatch UMLS:C1418992 semapv:UnspecifiedMatching -OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:9515 semapv:UnspecifiedMatching -OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:PSG10P semapv:UnspecifiedMatching -OMIM:176399 PSG10P skos:exactMatch ncbigene:653492 semapv:UnspecifiedMatching -OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:9516 semapv:UnspecifiedMatching -OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:PSG11 semapv:UnspecifiedMatching -OMIM:176401 PSG11 skos:exactMatch ncbigene:5680 semapv:UnspecifiedMatching -OMIM:176420 PZP skos:exactMatch hgnc.symbol:9750 semapv:UnspecifiedMatching -OMIM:176420 PZP skos:exactMatch hgnc.symbol:PZP semapv:UnspecifiedMatching -OMIM:176420 PZP skos:exactMatch ncbigene:5858 semapv:UnspecifiedMatching -OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:8882 semapv:UnspecifiedMatching -OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:PFN2 semapv:UnspecifiedMatching -OMIM:176590 PFN2 skos:exactMatch ncbigene:5217 semapv:UnspecifiedMatching -OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:8881 semapv:UnspecifiedMatching -OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:PFN1 semapv:UnspecifiedMatching -OMIM:176610 PFN1 skos:exactMatch ncbigene:5216 semapv:UnspecifiedMatching -OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:9369 semapv:UnspecifiedMatching -OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:PRIM1 semapv:UnspecifiedMatching -OMIM:176635 PRIM1 skos:exactMatch ncbigene:5557 semapv:UnspecifiedMatching -OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:9370 semapv:UnspecifiedMatching -OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:PRIM2 semapv:UnspecifiedMatching -OMIM:176636 PRIM2A skos:exactMatch ncbigene:5558 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C0022336 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C0206042 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C1418941 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C1847650 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C1864112 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C1867751 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C1867752 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C3805618 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C4016337 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch UMLS:C4016338 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch hgnc.symbol:9449 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch hgnc.symbol:PRNP semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch ncbigene:5621 semapv:UnspecifiedMatching -OMIM:176705 PHB skos:exactMatch hgnc.symbol:8912 semapv:UnspecifiedMatching -OMIM:176705 PHB skos:exactMatch hgnc.symbol:PHB1 semapv:UnspecifiedMatching -OMIM:176705 PHB skos:exactMatch ncbigene:5245 semapv:UnspecifiedMatching -OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:8546 semapv:UnspecifiedMatching -OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:P4HA1 semapv:UnspecifiedMatching -OMIM:176710 P4HA1 skos:exactMatch ncbigene:5033 semapv:UnspecifiedMatching -OMIM:176720 PIP skos:exactMatch hgnc.symbol:8993 semapv:UnspecifiedMatching -OMIM:176720 PIP skos:exactMatch hgnc.symbol:PIP semapv:UnspecifiedMatching -OMIM:176720 PIP skos:exactMatch ncbigene:5304 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C0342283 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C1337112 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch hgnc.symbol:6081 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch hgnc.symbol:INS semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch ncbigene:3630 semapv:UnspecifiedMatching -OMIM:176740 PCNA skos:exactMatch hgnc.symbol:8729 semapv:UnspecifiedMatching -OMIM:176740 PCNA skos:exactMatch hgnc.symbol:PCNA semapv:UnspecifiedMatching -OMIM:176740 PCNA skos:exactMatch ncbigene:5111 semapv:UnspecifiedMatching -OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:7107 semapv:UnspecifiedMatching -OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:MKI67 semapv:UnspecifiedMatching -OMIM:176741 MKI67 skos:exactMatch ncbigene:4288 semapv:UnspecifiedMatching -OMIM:176760 PRL skos:exactMatch hgnc.symbol:9445 semapv:UnspecifiedMatching -OMIM:176760 PRL skos:exactMatch hgnc.symbol:PRL semapv:UnspecifiedMatching -OMIM:176760 PRL skos:exactMatch ncbigene:5617 semapv:UnspecifiedMatching -OMIM:176761 PRLR skos:exactMatch hgnc.symbol:9446 semapv:UnspecifiedMatching -OMIM:176761 PRLR skos:exactMatch hgnc.symbol:PRLR semapv:UnspecifiedMatching -OMIM:176761 PRLR skos:exactMatch ncbigene:5618 semapv:UnspecifiedMatching -OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:9352 semapv:UnspecifiedMatching -OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:PRDX1 semapv:UnspecifiedMatching -OMIM:176763 PRDX1 skos:exactMatch ncbigene:5052 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0205990 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C1868686 semapv:UnspecifiedMatching -OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C2752090 semapv:UnspecifiedMatching -OMIM:176785 PRCP skos:exactMatch hgnc.symbol:9344 semapv:UnspecifiedMatching -OMIM:176785 PRCP skos:exactMatch hgnc.symbol:PRCP semapv:UnspecifiedMatching -OMIM:176785 PRCP skos:exactMatch ncbigene:5547 semapv:UnspecifiedMatching -OMIM:176790 P4HB skos:exactMatch hgnc.symbol:8548 semapv:UnspecifiedMatching -OMIM:176790 P4HB skos:exactMatch hgnc.symbol:P4HB semapv:UnspecifiedMatching -OMIM:176790 P4HB skos:exactMatch ncbigene:5034 semapv:UnspecifiedMatching -OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:9110 semapv:UnspecifiedMatching -OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:PMCHL1 semapv:UnspecifiedMatching -OMIM:176793 PMCHL1 skos:exactMatch ncbigene:5369 semapv:UnspecifiedMatching -OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:9111 semapv:UnspecifiedMatching -OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:PMCHL2 semapv:UnspecifiedMatching -OMIM:176794 PMCHL2 skos:exactMatch ncbigene:5370 semapv:UnspecifiedMatching -OMIM:176795 PMCH skos:exactMatch hgnc.symbol:9109 semapv:UnspecifiedMatching -OMIM:176795 PMCH skos:exactMatch hgnc.symbol:PMCH semapv:UnspecifiedMatching -OMIM:176795 PMCH skos:exactMatch ncbigene:5367 semapv:UnspecifiedMatching -OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:12930 semapv:UnspecifiedMatching -OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:ZBTB16 semapv:UnspecifiedMatching -OMIM:176797 ZBTB16 skos:exactMatch ncbigene:7704 semapv:UnspecifiedMatching -OMIM:176801 PSAP skos:exactMatch hgnc.symbol:9498 semapv:UnspecifiedMatching -OMIM:176801 PSAP skos:exactMatch hgnc.symbol:PSAP semapv:UnspecifiedMatching -OMIM:176801 PSAP skos:exactMatch ncbigene:5660 semapv:UnspecifiedMatching -OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:9593 semapv:UnspecifiedMatching -OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:PTGER1 semapv:UnspecifiedMatching -OMIM:176802 PTGER1 skos:exactMatch ncbigene:5731 semapv:UnspecifiedMatching -OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:9592 semapv:UnspecifiedMatching -OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:PTGDS semapv:UnspecifiedMatching -OMIM:176803 PTGDS skos:exactMatch ncbigene:5730 semapv:UnspecifiedMatching -OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:9594 semapv:UnspecifiedMatching -OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:PTGER2 semapv:UnspecifiedMatching -OMIM:176804 PTGER2 skos:exactMatch ncbigene:5732 semapv:UnspecifiedMatching -OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:9604 semapv:UnspecifiedMatching -OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:PTGS1 semapv:UnspecifiedMatching -OMIM:176805 PTGS1 skos:exactMatch ncbigene:5742 semapv:UnspecifiedMatching -OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:9595 semapv:UnspecifiedMatching -OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:PTGER3 semapv:UnspecifiedMatching -OMIM:176806 PTGER3 skos:exactMatch ncbigene:5733 semapv:UnspecifiedMatching -OMIM:176807 prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching -OMIM:176807 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching -OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:6364 semapv:UnspecifiedMatching -OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:KLK3 semapv:UnspecifiedMatching -OMIM:176820 KLK3 skos:exactMatch ncbigene:354 semapv:UnspecifiedMatching -OMIM:176830 POMC skos:exactMatch hgnc.symbol:9201 semapv:UnspecifiedMatching -OMIM:176830 POMC skos:exactMatch hgnc.symbol:POMC semapv:UnspecifiedMatching -OMIM:176830 POMC skos:exactMatch ncbigene:5443 semapv:UnspecifiedMatching -OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:9531 semapv:UnspecifiedMatching -OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:PSMA2 semapv:UnspecifiedMatching -OMIM:176842 PSMA2 skos:exactMatch ncbigene:5683 semapv:UnspecifiedMatching -OMIM:176843 PSMA3 skos:exactMatch hgnc.symbol:9532 semapv:UnspecifiedMatching -OMIM:176843 PSMA3 skos:exactMatch hgnc.symbol:PSMA3 semapv:UnspecifiedMatching -OMIM:176843 PSMA3 skos:exactMatch ncbigene:5684 semapv:UnspecifiedMatching -OMIM:176844 PSMA5 skos:exactMatch hgnc.symbol:9534 semapv:UnspecifiedMatching -OMIM:176844 PSMA5 skos:exactMatch hgnc.symbol:PSMA5 semapv:UnspecifiedMatching -OMIM:176844 PSMA5 skos:exactMatch ncbigene:5686 semapv:UnspecifiedMatching -OMIM:176846 PSMA4 skos:exactMatch hgnc.symbol:9533 semapv:UnspecifiedMatching -OMIM:176846 PSMA4 skos:exactMatch hgnc.symbol:PSMA4 semapv:UnspecifiedMatching -OMIM:176846 PSMA4 skos:exactMatch ncbigene:5685 semapv:UnspecifiedMatching -OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:9538 semapv:UnspecifiedMatching -OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:PSMB10 semapv:UnspecifiedMatching -OMIM:176847 PSMB10 skos:exactMatch ncbigene:5699 semapv:UnspecifiedMatching -OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:8728 semapv:UnspecifiedMatching -OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:PCMT1 semapv:UnspecifiedMatching -OMIM:176851 PCMT1 skos:exactMatch ncbigene:5110 semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch UMLS:C0077906 semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch UMLS:C1412376 semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch hgnc.symbol:453 semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch hgnc.symbol:AMBP semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch ncbigene:259 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C1539341 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:9437 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:EIF2AK2 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch ncbigene:5610 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch UMLS:C1334474 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch UMLS:C5394559 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:6840 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:MAP2K1 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch ncbigene:5604 semapv:UnspecifiedMatching -OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:1729 semapv:UnspecifiedMatching -OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:CDK11B semapv:UnspecifiedMatching -OMIM:176873 CDK11B skos:exactMatch ncbigene:984 semapv:UnspecifiedMatching -OMIM:176875 PPP1CA skos:exactMatch UMLS:C1335240 semapv:UnspecifiedMatching -OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:9281 semapv:UnspecifiedMatching -OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:PPP1CA semapv:UnspecifiedMatching -OMIM:176875 PPP1CA skos:exactMatch ncbigene:5499 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C0410530 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C1335280 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:9644 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:PTPN11 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch ncbigene:5781 semapv:UnspecifiedMatching -OMIM:176877 PTPN3 skos:exactMatch hgnc.symbol:9655 semapv:UnspecifiedMatching -OMIM:176877 PTPN3 skos:exactMatch hgnc.symbol:PTPN3 semapv:UnspecifiedMatching -OMIM:176877 PTPN3 skos:exactMatch ncbigene:5774 semapv:UnspecifiedMatching -OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:9656 semapv:UnspecifiedMatching -OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:PTPN4 semapv:UnspecifiedMatching -OMIM:176878 PTPN4 skos:exactMatch ncbigene:5775 semapv:UnspecifiedMatching -OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:9657 semapv:UnspecifiedMatching -OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:PTPN5 semapv:UnspecifiedMatching -OMIM:176879 PTPN5 skos:exactMatch ncbigene:84867 semapv:UnspecifiedMatching -OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:9456 semapv:UnspecifiedMatching -OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:PROS1 semapv:UnspecifiedMatching -OMIM:176880 PROS1 skos:exactMatch ncbigene:5627 semapv:UnspecifiedMatching -OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:9665 semapv:UnspecifiedMatching -OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:PTPRB semapv:UnspecifiedMatching -OMIM:176882 PTPRB skos:exactMatch ncbigene:5787 semapv:UnspecifiedMatching -OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:9658 semapv:UnspecifiedMatching -OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:PTPN6 semapv:UnspecifiedMatching -OMIM:176883 PTPN6 skos:exactMatch ncbigene:5777 semapv:UnspecifiedMatching -OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:9664 semapv:UnspecifiedMatching -OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:PTPRA semapv:UnspecifiedMatching -OMIM:176884 PTPRA skos:exactMatch ncbigene:5786 semapv:UnspecifiedMatching -OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:9642 semapv:UnspecifiedMatching -OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:PTPN1 semapv:UnspecifiedMatching -OMIM:176885 PTPN1 skos:exactMatch ncbigene:5770 semapv:UnspecifiedMatching -OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:9671 semapv:UnspecifiedMatching -OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:PTPRG semapv:UnspecifiedMatching -OMIM:176886 PTPRG skos:exactMatch ncbigene:5793 semapv:UnspecifiedMatching -OMIM:176887 PTPN2 skos:exactMatch UMLS:C1419100 semapv:UnspecifiedMatching -OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:9650 semapv:UnspecifiedMatching -OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:PTPN2 semapv:UnspecifiedMatching -OMIM:176887 PTPN2 skos:exactMatch ncbigene:5771 semapv:UnspecifiedMatching -OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:9675 semapv:UnspecifiedMatching -OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:PTPRM semapv:UnspecifiedMatching -OMIM:176888 PTPRM skos:exactMatch ncbigene:5797 semapv:UnspecifiedMatching -OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:9659 semapv:UnspecifiedMatching -OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:PTPN7 semapv:UnspecifiedMatching -OMIM:176889 PTPN7 skos:exactMatch ncbigene:5778 semapv:UnspecifiedMatching -OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:9685 semapv:UnspecifiedMatching -OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:PTPRZ1 semapv:UnspecifiedMatching -OMIM:176891 PTPRZ1 skos:exactMatch ncbigene:5803 semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch UMLS:C1418902 semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:9381 semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:PRKACB semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch ncbigene:5567 semapv:UnspecifiedMatching -OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:9382 semapv:UnspecifiedMatching -OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:PRKACG semapv:UnspecifiedMatching -OMIM:176893 PRKACG skos:exactMatch ncbigene:5568 semapv:UnspecifiedMatching -OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:9414 semapv:UnspecifiedMatching -OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:PRKG1 semapv:UnspecifiedMatching -OMIM:176894 PRKG1 skos:exactMatch ncbigene:5592 semapv:UnspecifiedMatching -OMIM:176895 PROZ skos:exactMatch hgnc.symbol:9460 semapv:UnspecifiedMatching -OMIM:176895 PROZ skos:exactMatch hgnc.symbol:PROZ semapv:UnspecifiedMatching -OMIM:176895 PROZ skos:exactMatch ncbigene:8858 semapv:UnspecifiedMatching -OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:9391 semapv:UnspecifiedMatching -OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:PRKAR2A semapv:UnspecifiedMatching -OMIM:176910 PRKAR2A skos:exactMatch ncbigene:5576 semapv:UnspecifiedMatching -OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:9390 semapv:UnspecifiedMatching -OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:PRKAR1B semapv:UnspecifiedMatching -OMIM:176911 PRKAR1B skos:exactMatch ncbigene:5575 semapv:UnspecifiedMatching -OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:9392 semapv:UnspecifiedMatching -OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:PRKAR2B semapv:UnspecifiedMatching -OMIM:176912 PRKAR2B skos:exactMatch ncbigene:5577 semapv:UnspecifiedMatching -OMIM:176914 PPP1CC skos:exactMatch UMLS:C1418821 semapv:UnspecifiedMatching -OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:9283 semapv:UnspecifiedMatching -OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:PPP1CC semapv:UnspecifiedMatching -OMIM:176914 PPP1CC skos:exactMatch ncbigene:5501 semapv:UnspecifiedMatching -OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:9299 semapv:UnspecifiedMatching -OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:PPP2CA semapv:UnspecifiedMatching -OMIM:176915 PPP2CA skos:exactMatch ncbigene:5515 semapv:UnspecifiedMatching -OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:9300 semapv:UnspecifiedMatching -OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:PPP2CB semapv:UnspecifiedMatching -OMIM:176916 PPP2CB skos:exactMatch ncbigene:5516 semapv:UnspecifiedMatching -OMIM:176930 F2 skos:exactMatch hgnc.symbol:3535 semapv:UnspecifiedMatching -OMIM:176930 F2 skos:exactMatch hgnc.symbol:F2 semapv:UnspecifiedMatching -OMIM:176930 F2 skos:exactMatch ncbigene:2147 semapv:UnspecifiedMatching -OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:10486 semapv:UnspecifiedMatching -OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:S100A1 semapv:UnspecifiedMatching -OMIM:176940 S100A1 skos:exactMatch ncbigene:6271 semapv:UnspecifiedMatching -OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:12440 semapv:UnspecifiedMatching -OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:TYK2 semapv:UnspecifiedMatching -OMIM:176941 TYK2 skos:exactMatch ncbigene:7297 semapv:UnspecifiedMatching -OMIM:176942 FER skos:exactMatch hgnc.symbol:3655 semapv:UnspecifiedMatching -OMIM:176942 FER skos:exactMatch hgnc.symbol:FER semapv:UnspecifiedMatching -OMIM:176942 FER skos:exactMatch ncbigene:2241 semapv:UnspecifiedMatching -OMIM:176943 FGFR2 skos:exactMatch hgnc.symbol:3689 semapv:UnspecifiedMatching -OMIM:176943 FGFR2 skos:exactMatch hgnc.symbol:FGFR2 semapv:UnspecifiedMatching -OMIM:176943 FGFR2 skos:exactMatch ncbigene:2263 semapv:UnspecifiedMatching -OMIM:176945 EPHA8 skos:exactMatch hgnc.symbol:3391 semapv:UnspecifiedMatching -OMIM:176945 EPHA8 skos:exactMatch hgnc.symbol:EPHA8 semapv:UnspecifiedMatching -OMIM:176945 EPHA8 skos:exactMatch ncbigene:2046 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch UMLS:C1333337 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016347 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016348 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016349 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:3386 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:EPHA2 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch ncbigene:1969 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch UMLS:C1421567 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch UMLS:C2931299 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch UMLS:C4310768 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:12858 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:ZAP70 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch ncbigene:7535 semapv:UnspecifiedMatching -OMIM:176948 MAPK1 skos:exactMatch UMLS:C1366882 semapv:UnspecifiedMatching -OMIM:176948 MAPK1 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching -OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:6871 semapv:UnspecifiedMatching -OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:MAPK1 semapv:UnspecifiedMatching -OMIM:176948 MAPK1 skos:exactMatch ncbigene:5594 semapv:UnspecifiedMatching -OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:6878 semapv:UnspecifiedMatching -OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:MAPK4 semapv:UnspecifiedMatching -OMIM:176949 MAPK4 skos:exactMatch ncbigene:5596 semapv:UnspecifiedMatching -OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:9393 semapv:UnspecifiedMatching -OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:PRKCA semapv:UnspecifiedMatching -OMIM:176960 PRKCA skos:exactMatch ncbigene:5578 semapv:UnspecifiedMatching -OMIM:176970 PRKCB skos:exactMatch UMLS:C1418913 semapv:UnspecifiedMatching -OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:9395 semapv:UnspecifiedMatching -OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:PRKCB semapv:UnspecifiedMatching -OMIM:176970 PRKCB skos:exactMatch ncbigene:5579 semapv:UnspecifiedMatching -OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:9401 semapv:UnspecifiedMatching -OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:PRKCE semapv:UnspecifiedMatching -OMIM:176975 PRKCE skos:exactMatch ncbigene:5581 semapv:UnspecifiedMatching -OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:9399 semapv:UnspecifiedMatching -OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:PRKCD semapv:UnspecifiedMatching -OMIM:176977 PRKCD skos:exactMatch ncbigene:5580 semapv:UnspecifiedMatching -OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:9402 semapv:UnspecifiedMatching -OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:PRKCG semapv:UnspecifiedMatching -OMIM:176980 PRKCG skos:exactMatch ncbigene:5582 semapv:UnspecifiedMatching -OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:4399 semapv:UnspecifiedMatching -OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:RACK1 semapv:UnspecifiedMatching -OMIM:176981 RACK1 skos:exactMatch ncbigene:10399 semapv:UnspecifiedMatching -OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:9412 semapv:UnspecifiedMatching -OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:PRKCZ semapv:UnspecifiedMatching -OMIM:176982 PRKCZ skos:exactMatch ncbigene:5590 semapv:UnspecifiedMatching -OMIM:176990 S100B skos:exactMatch hgnc.symbol:10500 semapv:UnspecifiedMatching -OMIM:176990 S100B skos:exactMatch hgnc.symbol:S100B semapv:UnspecifiedMatching -OMIM:176990 S100B skos:exactMatch ncbigene:6285 semapv:UnspecifiedMatching -OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:10495 semapv:UnspecifiedMatching -OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:S100A5 semapv:UnspecifiedMatching -OMIM:176991 S100A5 skos:exactMatch ncbigene:6276 semapv:UnspecifiedMatching -OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:10493 semapv:UnspecifiedMatching -OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:S100A3 semapv:UnspecifiedMatching -OMIM:176992 S100A3 skos:exactMatch ncbigene:6274 semapv:UnspecifiedMatching -OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:10492 semapv:UnspecifiedMatching -OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:S100A2 semapv:UnspecifiedMatching -OMIM:176993 S100A2 skos:exactMatch ncbigene:6273 semapv:UnspecifiedMatching -OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:8951 semapv:UnspecifiedMatching -OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:SERPINE2 semapv:UnspecifiedMatching -OMIM:177010 SERPINE2 skos:exactMatch ncbigene:5270 semapv:UnspecifiedMatching -OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:9529 semapv:UnspecifiedMatching -OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:PSKH1 semapv:UnspecifiedMatching -OMIM:177015 PSKH1 skos:exactMatch ncbigene:5681 semapv:UnspecifiedMatching -OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:9495 semapv:UnspecifiedMatching -OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:PRTN3 semapv:UnspecifiedMatching -OMIM:177020 PRTN3 skos:exactMatch ncbigene:5657 semapv:UnspecifiedMatching -OMIM:177040 SRGN skos:exactMatch hgnc.symbol:9361 semapv:UnspecifiedMatching -OMIM:177040 SRGN skos:exactMatch hgnc.symbol:SRGN semapv:UnspecifiedMatching -OMIM:177040 SRGN skos:exactMatch ncbigene:5552 semapv:UnspecifiedMatching -OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:9546 semapv:UnspecifiedMatching -OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:PSMB9 semapv:UnspecifiedMatching -OMIM:177045 PSMB9 skos:exactMatch ncbigene:5698 semapv:UnspecifiedMatching -OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:9545 semapv:UnspecifiedMatching -OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:PSMB8 semapv:UnspecifiedMatching -OMIM:177046 PSMB8 skos:exactMatch ncbigene:5696 semapv:UnspecifiedMatching -OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:9411 semapv:UnspecifiedMatching -OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:PRKCSH semapv:UnspecifiedMatching -OMIM:177060 PRKCSH skos:exactMatch ncbigene:5589 semapv:UnspecifiedMatching -OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:6759 semapv:UnspecifiedMatching -OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:MARCKS semapv:UnspecifiedMatching -OMIM:177061 MARCKS skos:exactMatch ncbigene:4082 semapv:UnspecifiedMatching -OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:3381 semapv:UnspecifiedMatching -OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:EPB42 semapv:UnspecifiedMatching -OMIM:177070 EPB42 skos:exactMatch ncbigene:2038 semapv:UnspecifiedMatching -OMIM:177075 MAF skos:exactMatch hgnc.symbol:6776 semapv:UnspecifiedMatching -OMIM:177075 MAF skos:exactMatch hgnc.symbol:MAF semapv:UnspecifiedMatching -OMIM:177075 MAF skos:exactMatch ncbigene:4094 semapv:UnspecifiedMatching -OMIM:177400 BCHE skos:exactMatch hgnc.symbol:983 semapv:UnspecifiedMatching -OMIM:177400 BCHE skos:exactMatch hgnc.symbol:BCHE semapv:UnspecifiedMatching -OMIM:177400 BCHE skos:exactMatch ncbigene:590 semapv:UnspecifiedMatching -OMIM:177900 psoriasis 1, susceptibility to skos:exactMatch UMLS:C1867449 semapv:UnspecifiedMatching -OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch Orphanet:65743 semapv:UnspecifiedMatching -OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching -OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:10802 semapv:UnspecifiedMatching -OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:SFTPC semapv:UnspecifiedMatching -OMIM:178620 SFTPC skos:exactMatch ncbigene:6440 semapv:UnspecifiedMatching -OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:10798 semapv:UnspecifiedMatching -OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:SFTPA1 semapv:UnspecifiedMatching -OMIM:178630 SFTPA1 skos:exactMatch ncbigene:653509 semapv:UnspecifiedMatching -OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:10803 semapv:UnspecifiedMatching -OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:SFTPD semapv:UnspecifiedMatching -OMIM:178635 SFTPD skos:exactMatch ncbigene:6441 semapv:UnspecifiedMatching -OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:10801 semapv:UnspecifiedMatching -OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:SFTPB semapv:UnspecifiedMatching -OMIM:178640 SFTPB skos:exactMatch ncbigene:6439 semapv:UnspecifiedMatching -OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:10799 semapv:UnspecifiedMatching -OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:SFTPA2 semapv:UnspecifiedMatching -OMIM:178642 SFTPA2 skos:exactMatch ncbigene:729238 semapv:UnspecifiedMatching -OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:7174 semapv:UnspecifiedMatching -OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:MMP7 semapv:UnspecifiedMatching -OMIM:178990 MMP7 skos:exactMatch ncbigene:4316 semapv:UnspecifiedMatching -OMIM:179020 PDXK skos:exactMatch hgnc.symbol:8819 semapv:UnspecifiedMatching -OMIM:179020 PDXK skos:exactMatch hgnc.symbol:PDXK semapv:UnspecifiedMatching -OMIM:179020 PDXK skos:exactMatch ncbigene:8566 semapv:UnspecifiedMatching -OMIM:179030 PPA1 skos:exactMatch hgnc.symbol:9226 semapv:UnspecifiedMatching -OMIM:179030 PPA1 skos:exactMatch hgnc.symbol:PPA1 semapv:UnspecifiedMatching -OMIM:179030 PPA1 skos:exactMatch ncbigene:5464 semapv:UnspecifiedMatching -OMIM:179035 PYCR1 skos:exactMatch hgnc.symbol:9721 semapv:UnspecifiedMatching -OMIM:179035 PYCR1 skos:exactMatch hgnc.symbol:PYCR1 semapv:UnspecifiedMatching -OMIM:179035 PYCR1 skos:exactMatch ncbigene:5831 semapv:UnspecifiedMatching -OMIM:179050 PKM skos:exactMatch hgnc.symbol:9021 semapv:UnspecifiedMatching -OMIM:179050 PKM skos:exactMatch hgnc.symbol:PKM semapv:UnspecifiedMatching -OMIM:179050 PKM skos:exactMatch ncbigene:5315 semapv:UnspecifiedMatching -OMIM:179060 PDHB skos:exactMatch UMLS:C1418439 semapv:UnspecifiedMatching -OMIM:179060 PDHB skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching -OMIM:179060 PDHB skos:exactMatch hgnc.symbol:8808 semapv:UnspecifiedMatching -OMIM:179060 PDHB skos:exactMatch hgnc.symbol:PDHB semapv:UnspecifiedMatching -OMIM:179060 PDHB skos:exactMatch ncbigene:5162 semapv:UnspecifiedMatching -OMIM:179061 PDHA2 skos:exactMatch hgnc.symbol:8807 semapv:UnspecifiedMatching -OMIM:179061 PDHA2 skos:exactMatch hgnc.symbol:PDHA2 semapv:UnspecifiedMatching -OMIM:179061 PDHA2 skos:exactMatch ncbigene:5161 semapv:UnspecifiedMatching -OMIM:179080 RABGGTB skos:exactMatch hgnc.symbol:9796 semapv:UnspecifiedMatching -OMIM:179080 RABGGTB skos:exactMatch hgnc.symbol:RABGGTB semapv:UnspecifiedMatching -OMIM:179080 RABGGTB skos:exactMatch ncbigene:5876 semapv:UnspecifiedMatching -OMIM:179095 UBE2B skos:exactMatch hgnc.symbol:12473 semapv:UnspecifiedMatching -OMIM:179095 UBE2B skos:exactMatch hgnc.symbol:UBE2B semapv:UnspecifiedMatching -OMIM:179095 UBE2B skos:exactMatch ncbigene:7320 semapv:UnspecifiedMatching -OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch Orphanet:3269 semapv:UnspecifiedMatching -OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching -OMIM:179410 RDX skos:exactMatch hgnc.symbol:9944 semapv:UnspecifiedMatching -OMIM:179410 RDX skos:exactMatch hgnc.symbol:RDX semapv:UnspecifiedMatching -OMIM:179410 RDX skos:exactMatch ncbigene:5962 semapv:UnspecifiedMatching -OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:9777 semapv:UnspecifiedMatching -OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:RAB3A semapv:UnspecifiedMatching -OMIM:179490 RAB3A skos:exactMatch ncbigene:5864 semapv:UnspecifiedMatching -OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:9859 semapv:UnspecifiedMatching -OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:RAP1GDS1 semapv:UnspecifiedMatching -OMIM:179502 RAP1GDS1 skos:exactMatch ncbigene:5910 semapv:UnspecifiedMatching -OMIM:179503 RRAD skos:exactMatch UMLS:C0919455 semapv:UnspecifiedMatching -OMIM:179503 RRAD skos:exactMatch UMLS:C1867391 semapv:UnspecifiedMatching -OMIM:179503 RRAD skos:exactMatch hgnc.symbol:10446 semapv:UnspecifiedMatching -OMIM:179503 RRAD skos:exactMatch hgnc.symbol:RRAD semapv:UnspecifiedMatching -OMIM:179503 RRAD skos:exactMatch ncbigene:6236 semapv:UnspecifiedMatching -OMIM:179505 RHOG skos:exactMatch UMLS:C1412519 semapv:UnspecifiedMatching -OMIM:179505 RHOG skos:exactMatch hgnc.symbol:672 semapv:UnspecifiedMatching -OMIM:179505 RHOG skos:exactMatch hgnc.symbol:RHOG semapv:UnspecifiedMatching -OMIM:179505 RHOG skos:exactMatch ncbigene:391 semapv:UnspecifiedMatching -OMIM:179508 RAB1 skos:exactMatch hgnc.symbol:9758 semapv:UnspecifiedMatching -OMIM:179508 RAB1 skos:exactMatch hgnc.symbol:RAB1A semapv:UnspecifiedMatching -OMIM:179508 RAB1 skos:exactMatch ncbigene:5861 semapv:UnspecifiedMatching -OMIM:179509 RAB2 skos:exactMatch hgnc.symbol:9763 semapv:UnspecifiedMatching -OMIM:179509 RAB2 skos:exactMatch hgnc.symbol:RAB2A semapv:UnspecifiedMatching -OMIM:179509 RAB2 skos:exactMatch ncbigene:5862 semapv:UnspecifiedMatching -OMIM:179510 RAB3B skos:exactMatch hgnc.symbol:9778 semapv:UnspecifiedMatching -OMIM:179510 RAB3B skos:exactMatch hgnc.symbol:RAB3B semapv:UnspecifiedMatching -OMIM:179510 RAB3B skos:exactMatch ncbigene:5865 semapv:UnspecifiedMatching -OMIM:179511 RAB4A skos:exactMatch hgnc.symbol:9781 semapv:UnspecifiedMatching -OMIM:179511 RAB4A skos:exactMatch hgnc.symbol:RAB4A semapv:UnspecifiedMatching -OMIM:179511 RAB4A skos:exactMatch ncbigene:5867 semapv:UnspecifiedMatching -OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:9783 semapv:UnspecifiedMatching -OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:RAB5A semapv:UnspecifiedMatching -OMIM:179512 RAB5A skos:exactMatch ncbigene:5868 semapv:UnspecifiedMatching -OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:9786 semapv:UnspecifiedMatching -OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:RAB6A semapv:UnspecifiedMatching -OMIM:179513 RAB6A skos:exactMatch ncbigene:5870 semapv:UnspecifiedMatching -OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:9784 semapv:UnspecifiedMatching -OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:RAB5B semapv:UnspecifiedMatching -OMIM:179514 RAB5B skos:exactMatch ncbigene:5869 semapv:UnspecifiedMatching -OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:9855 semapv:UnspecifiedMatching -OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:RAP1A semapv:UnspecifiedMatching -OMIM:179520 RAP1A skos:exactMatch ncbigene:5906 semapv:UnspecifiedMatching -OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:9857 semapv:UnspecifiedMatching -OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:RAP1B semapv:UnspecifiedMatching -OMIM:179530 RAP1B skos:exactMatch ncbigene:5908 semapv:UnspecifiedMatching -OMIM:179540 RAP2A skos:exactMatch UMLS:C1419269 semapv:UnspecifiedMatching -OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:9861 semapv:UnspecifiedMatching -OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:RAP2A semapv:UnspecifiedMatching -OMIM:179540 RAP2A skos:exactMatch ncbigene:5911 semapv:UnspecifiedMatching -OMIM:179541 RAP2B skos:exactMatch UMLS:C1419270 semapv:UnspecifiedMatching -OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:9862 semapv:UnspecifiedMatching -OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:RAP2B semapv:UnspecifiedMatching -OMIM:179541 RAP2B skos:exactMatch ncbigene:5912 semapv:UnspecifiedMatching -OMIM:179550 RALA skos:exactMatch UMLS:C0812284 semapv:UnspecifiedMatching -OMIM:179550 RALA skos:exactMatch hgnc.symbol:9839 semapv:UnspecifiedMatching -OMIM:179550 RALA skos:exactMatch hgnc.symbol:RALA semapv:UnspecifiedMatching -OMIM:179550 RALA skos:exactMatch ncbigene:5898 semapv:UnspecifiedMatching -OMIM:179551 RALB skos:exactMatch hgnc.symbol:9840 semapv:UnspecifiedMatching -OMIM:179551 RALB skos:exactMatch hgnc.symbol:RALB semapv:UnspecifiedMatching -OMIM:179551 RALB skos:exactMatch ncbigene:5899 semapv:UnspecifiedMatching -OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:10464 semapv:UnspecifiedMatching -OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:RSU1 semapv:UnspecifiedMatching -OMIM:179555 RSU1 skos:exactMatch ncbigene:6251 semapv:UnspecifiedMatching -OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:9670 semapv:UnspecifiedMatching -OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:PTPRF semapv:UnspecifiedMatching -OMIM:179590 PTPRF skos:exactMatch ncbigene:5792 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C1826711 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842914 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C2675552 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C4013102 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C4016358 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch UMLS:C4551999 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:9942 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:PRPH2 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch ncbigene:5961 semapv:UnspecifiedMatching -OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:3385 semapv:UnspecifiedMatching -OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:EPHA1 semapv:UnspecifiedMatching -OMIM:179610 EPHA1 skos:exactMatch ncbigene:2041 semapv:UnspecifiedMatching -OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:3387 semapv:UnspecifiedMatching -OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:EPHA3 semapv:UnspecifiedMatching -OMIM:179611 EPHA3 skos:exactMatch ncbigene:2042 semapv:UnspecifiedMatching -OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch Orphanet:96167 semapv:UnspecifiedMatching -OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch UMLS:C0795822 semapv:UnspecifiedMatching -OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:9831 semapv:UnspecifiedMatching -OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:RAG1 semapv:UnspecifiedMatching -OMIM:179615 RAG1 skos:exactMatch ncbigene:5896 semapv:UnspecifiedMatching -OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:9832 semapv:UnspecifiedMatching -OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:RAG2 semapv:UnspecifiedMatching -OMIM:179616 RAG2 skos:exactMatch ncbigene:5897 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch UMLS:C1419240 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch UMLS:C3281089 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch UMLS:C4016360 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:9817 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:RAD51 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch ncbigene:5888 semapv:UnspecifiedMatching -OMIM:179618 RCVRN skos:exactMatch UMLS:C1419326 semapv:UnspecifiedMatching -OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:9937 semapv:UnspecifiedMatching -OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:RCVRN semapv:UnspecifiedMatching -OMIM:179618 RCVRN skos:exactMatch ncbigene:5957 semapv:UnspecifiedMatching -OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:1913 semapv:UnspecifiedMatching -OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:RCC1 semapv:UnspecifiedMatching -OMIM:179710 RCC1 skos:exactMatch ncbigene:1104 semapv:UnspecifiedMatching -OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:10026 semapv:UnspecifiedMatching -OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:RLN1 semapv:UnspecifiedMatching -OMIM:179730 RLN1 skos:exactMatch ncbigene:6013 semapv:UnspecifiedMatching -OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:10027 semapv:UnspecifiedMatching -OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:RLN2 semapv:UnspecifiedMatching -OMIM:179740 RLN2 skos:exactMatch ncbigene:6019 semapv:UnspecifiedMatching -OMIM:179755 PRCC skos:exactMatch hgnc.symbol:9343 semapv:UnspecifiedMatching -OMIM:179755 PRCC skos:exactMatch hgnc.symbol:PRCC semapv:UnspecifiedMatching -OMIM:179755 PRCC skos:exactMatch ncbigene:5546 semapv:UnspecifiedMatching -OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:3002 semapv:UnspecifiedMatching -OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:DPEP1 semapv:UnspecifiedMatching -OMIM:179780 DPEP1 skos:exactMatch ncbigene:1800 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching -OMIM:179820 REN skos:exactMatch hgnc.symbol:9958 semapv:UnspecifiedMatching -OMIM:179820 REN skos:exactMatch hgnc.symbol:REN semapv:UnspecifiedMatching -OMIM:179820 REN skos:exactMatch ncbigene:5972 semapv:UnspecifiedMatching -OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:10289 semapv:UnspecifiedMatching -OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:RPA1 semapv:UnspecifiedMatching -OMIM:179835 RPA1 skos:exactMatch ncbigene:6117 semapv:UnspecifiedMatching -OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:10290 semapv:UnspecifiedMatching -OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:RPA2 semapv:UnspecifiedMatching -OMIM:179836 RPA2 skos:exactMatch ncbigene:6118 semapv:UnspecifiedMatching -OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:10291 semapv:UnspecifiedMatching -OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:RPA3 semapv:UnspecifiedMatching -OMIM:179837 RPA3 skos:exactMatch ncbigene:6119 semapv:UnspecifiedMatching -OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:10461 semapv:UnspecifiedMatching -OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:CLIP1 semapv:UnspecifiedMatching -OMIM:179838 CLIP1 skos:exactMatch ncbigene:6249 semapv:UnspecifiedMatching -OMIM:180040 RD3 skos:exactMatch hgnc.symbol:19689 semapv:UnspecifiedMatching -OMIM:180040 RD3 skos:exactMatch hgnc.symbol:RD3 semapv:UnspecifiedMatching -OMIM:180040 RD3 skos:exactMatch ncbigene:343035 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch UMLS:C1419622 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch UMLS:C1859844 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch UMLS:C3151086 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch hgnc.symbol:10294 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch hgnc.symbol:RPE65 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch ncbigene:6121 semapv:UnspecifiedMatching -OMIM:180071 PDE6A skos:exactMatch UMLS:C1418425 semapv:UnspecifiedMatching -OMIM:180071 PDE6A skos:exactMatch UMLS:C3151139 semapv:UnspecifiedMatching -OMIM:180071 PDE6A skos:exactMatch hgnc.symbol:8785 semapv:UnspecifiedMatching -OMIM:180071 PDE6A skos:exactMatch hgnc.symbol:PDE6A semapv:UnspecifiedMatching -OMIM:180071 PDE6A skos:exactMatch ncbigene:5145 semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch UMLS:C1418426 semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch UMLS:C1876182 semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch UMLS:C3151107 semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch hgnc.symbol:8786 semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch hgnc.symbol:PDE6B semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch ncbigene:5158 semapv:UnspecifiedMatching -OMIM:180073 PDE6G skos:exactMatch UMLS:C1418429 semapv:UnspecifiedMatching -OMIM:180073 PDE6G skos:exactMatch UMLS:C3150821 semapv:UnspecifiedMatching -OMIM:180073 PDE6G skos:exactMatch hgnc.symbol:8789 semapv:UnspecifiedMatching -OMIM:180073 PDE6G skos:exactMatch hgnc.symbol:PDE6G semapv:UnspecifiedMatching -OMIM:180073 PDE6G skos:exactMatch ncbigene:5148 semapv:UnspecifiedMatching -OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:10024 semapv:UnspecifiedMatching -OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:RLBP1 semapv:UnspecifiedMatching -OMIM:180090 RLBP1 skos:exactMatch ncbigene:6017 semapv:UnspecifiedMatching -OMIM:180190 RARG skos:exactMatch hgnc.symbol:9866 semapv:UnspecifiedMatching -OMIM:180190 RARG skos:exactMatch hgnc.symbol:RARG semapv:UnspecifiedMatching -OMIM:180190 RARG skos:exactMatch ncbigene:5916 semapv:UnspecifiedMatching -OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:9885 semapv:UnspecifiedMatching -OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:ARID4A semapv:UnspecifiedMatching -OMIM:180201 ARID4A skos:exactMatch ncbigene:5926 semapv:UnspecifiedMatching -OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:9886 semapv:UnspecifiedMatching -OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:KDM5A semapv:UnspecifiedMatching -OMIM:180202 KDM5A skos:exactMatch ncbigene:5927 semapv:UnspecifiedMatching -OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:9894 semapv:UnspecifiedMatching -OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:RBL2 semapv:UnspecifiedMatching -OMIM:180203 RBL2 skos:exactMatch ncbigene:5934 semapv:UnspecifiedMatching -OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch UMLS:C1867261 semapv:UnspecifiedMatching -OMIM:180220 RARB skos:exactMatch hgnc.symbol:9865 semapv:UnspecifiedMatching -OMIM:180220 RARB skos:exactMatch hgnc.symbol:RARB semapv:UnspecifiedMatching -OMIM:180220 RARB skos:exactMatch ncbigene:5915 semapv:UnspecifiedMatching -OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:2338 semapv:UnspecifiedMatching -OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:CRABP1 semapv:UnspecifiedMatching -OMIM:180230 CRABP1 skos:exactMatch ncbigene:1381 semapv:UnspecifiedMatching -OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:2339 semapv:UnspecifiedMatching -OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:CRABP2 semapv:UnspecifiedMatching -OMIM:180231 CRABP2 skos:exactMatch ncbigene:1382 semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch UMLS:C1366536 semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch hgnc.symbol:9864 semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch hgnc.symbol:RARA semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch ncbigene:5914 semapv:UnspecifiedMatching -OMIM:180245 RXRA skos:exactMatch hgnc.symbol:10477 semapv:UnspecifiedMatching -OMIM:180245 RXRA skos:exactMatch hgnc.symbol:RXRA semapv:UnspecifiedMatching -OMIM:180245 RXRA skos:exactMatch ncbigene:6256 semapv:UnspecifiedMatching -OMIM:180246 RXRB skos:exactMatch hgnc.symbol:10478 semapv:UnspecifiedMatching -OMIM:180246 RXRB skos:exactMatch hgnc.symbol:RXRB semapv:UnspecifiedMatching -OMIM:180246 RXRB skos:exactMatch ncbigene:6257 semapv:UnspecifiedMatching -OMIM:180247 RXRG skos:exactMatch hgnc.symbol:10479 semapv:UnspecifiedMatching -OMIM:180247 RXRG skos:exactMatch hgnc.symbol:RXRG semapv:UnspecifiedMatching -OMIM:180247 RXRG skos:exactMatch ncbigene:6258 semapv:UnspecifiedMatching -OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:9922 semapv:UnspecifiedMatching -OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:RBP4 semapv:UnspecifiedMatching -OMIM:180250 RBP4 skos:exactMatch ncbigene:5950 semapv:UnspecifiedMatching -OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:9919 semapv:UnspecifiedMatching -OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:RBP1 semapv:UnspecifiedMatching -OMIM:180260 RBP1 skos:exactMatch ncbigene:5947 semapv:UnspecifiedMatching -OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:9920 semapv:UnspecifiedMatching -OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:RBP2 semapv:UnspecifiedMatching -OMIM:180280 RBP2 skos:exactMatch ncbigene:5948 semapv:UnspecifiedMatching -OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:9921 semapv:UnspecifiedMatching -OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:RBP3 semapv:UnspecifiedMatching -OMIM:180290 RBP3 skos:exactMatch ncbigene:5949 semapv:UnspecifiedMatching -OMIM:180297 RHAG skos:exactMatch hgnc.symbol:10006 semapv:UnspecifiedMatching -OMIM:180297 RHAG skos:exactMatch hgnc.symbol:RHAG semapv:UnspecifiedMatching -OMIM:180297 RHAG skos:exactMatch ncbigene:6005 semapv:UnspecifiedMatching -OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C0003873 semapv:UnspecifiedMatching -OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching -OMIM:180370 TST skos:exactMatch hgnc.symbol:12388 semapv:UnspecifiedMatching -OMIM:180370 TST skos:exactMatch hgnc.symbol:TST semapv:UnspecifiedMatching -OMIM:180370 TST skos:exactMatch ncbigene:7263 semapv:UnspecifiedMatching -OMIM:180380 RHO skos:exactMatch hgnc.symbol:10012 semapv:UnspecifiedMatching -OMIM:180380 RHO skos:exactMatch hgnc.symbol:RHO semapv:UnspecifiedMatching -OMIM:180380 RHO skos:exactMatch ncbigene:6010 semapv:UnspecifiedMatching -OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:10013 semapv:UnspecifiedMatching -OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:GRK1 semapv:UnspecifiedMatching -OMIM:180381 GRK1 skos:exactMatch ncbigene:6011 semapv:UnspecifiedMatching -OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:6642 semapv:UnspecifiedMatching -OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:LMO2 semapv:UnspecifiedMatching -OMIM:180385 LMO2 skos:exactMatch ncbigene:4005 semapv:UnspecifiedMatching -OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:6643 semapv:UnspecifiedMatching -OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:LMO3 semapv:UnspecifiedMatching -OMIM:180386 LMO3 skos:exactMatch ncbigene:55885 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch UMLS:C1335649 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:10452 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:RRM2 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch ncbigene:6241 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch UMLS:C1335648 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:10451 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:RRM1 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch ncbigene:6240 semapv:UnspecifiedMatching -OMIM:180430 RPIA skos:exactMatch UMLS:C1291609 semapv:UnspecifiedMatching -OMIM:180430 RPIA skos:exactMatch UMLS:C1419625 semapv:UnspecifiedMatching -OMIM:180430 RPIA skos:exactMatch hgnc.symbol:10297 semapv:UnspecifiedMatching -OMIM:180430 RPIA skos:exactMatch hgnc.symbol:RPIA semapv:UnspecifiedMatching -OMIM:180430 RPIA skos:exactMatch ncbigene:22934 semapv:UnspecifiedMatching -OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:10050 semapv:UnspecifiedMatching -OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:RNASEL semapv:UnspecifiedMatching -OMIM:180435 RNASEL skos:exactMatch ncbigene:6041 semapv:UnspecifiedMatching -OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:10044 semapv:UnspecifiedMatching -OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:RNASE1 semapv:UnspecifiedMatching -OMIM:180440 RNASE1 skos:exactMatch ncbigene:6035 semapv:UnspecifiedMatching -OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:10082 semapv:UnspecifiedMatching -OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:RNR1 semapv:UnspecifiedMatching -OMIM:180450 RNR1 skos:exactMatch ncbigene:6052 semapv:UnspecifiedMatching -OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:10083 semapv:UnspecifiedMatching -OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:RNR2 semapv:UnspecifiedMatching -OMIM:180451 RNR2 skos:exactMatch ncbigene:6053 semapv:UnspecifiedMatching -OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:10084 semapv:UnspecifiedMatching -OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:RNR3 semapv:UnspecifiedMatching -OMIM:180452 RNR3 skos:exactMatch ncbigene:6054 semapv:UnspecifiedMatching -OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:10085 semapv:UnspecifiedMatching -OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:RNR4 semapv:UnspecifiedMatching -OMIM:180453 RNR4 skos:exactMatch ncbigene:6055 semapv:UnspecifiedMatching -OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:10086 semapv:UnspecifiedMatching -OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:RNR5 semapv:UnspecifiedMatching -OMIM:180454 RNR5 skos:exactMatch ncbigene:6056 semapv:UnspecifiedMatching -OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:10429 semapv:UnspecifiedMatching -OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:RPS6 semapv:UnspecifiedMatching -OMIM:180460 RPS6 skos:exactMatch ncbigene:6194 semapv:UnspecifiedMatching -OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:10406 semapv:UnspecifiedMatching -OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:RPS20P3 semapv:UnspecifiedMatching -OMIM:180463 RPS20A skos:exactMatch ncbigene:6225 semapv:UnspecifiedMatching -OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:10407 semapv:UnspecifiedMatching -OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:RPS20P4 semapv:UnspecifiedMatching -OMIM:180464 RPS20B skos:exactMatch ncbigene:6226 semapv:UnspecifiedMatching -OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:10413 semapv:UnspecifiedMatching -OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:RPS25 semapv:UnspecifiedMatching -OMIM:180465 RPS25 skos:exactMatch ncbigene:6230 semapv:UnspecifiedMatching -OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:10312 semapv:UnspecifiedMatching -OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:RPL19 semapv:UnspecifiedMatching -OMIM:180466 RPL19 skos:exactMatch ncbigene:6143 semapv:UnspecifiedMatching -OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:10333 semapv:UnspecifiedMatching -OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:RPL30 semapv:UnspecifiedMatching -OMIM:180467 RPL30 skos:exactMatch ncbigene:6156 semapv:UnspecifiedMatching -OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:10345 semapv:UnspecifiedMatching -OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:RPL35A semapv:UnspecifiedMatching -OMIM:180468 RPL35A skos:exactMatch ncbigene:6165 semapv:UnspecifiedMatching -OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:10346 semapv:UnspecifiedMatching -OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:RPL36AL semapv:UnspecifiedMatching -OMIM:180469 RPL36AL skos:exactMatch ncbigene:6166 semapv:UnspecifiedMatching -OMIM:180470 RPN1 skos:exactMatch UMLS:C1419697 semapv:UnspecifiedMatching -OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:10381 semapv:UnspecifiedMatching -OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:RPN1 semapv:UnspecifiedMatching -OMIM:180470 RPN1 skos:exactMatch ncbigene:6184 semapv:UnspecifiedMatching -OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:10384 semapv:UnspecifiedMatching -OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:RPS11 semapv:UnspecifiedMatching -OMIM:180471 RPS11 skos:exactMatch ncbigene:6205 semapv:UnspecifiedMatching -OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:10397 semapv:UnspecifiedMatching -OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:RPS17 semapv:UnspecifiedMatching -OMIM:180472 RPS17 skos:exactMatch ncbigene:6218 semapv:UnspecifiedMatching -OMIM:180473 RPS18 skos:exactMatch hgnc.symbol:10401 semapv:UnspecifiedMatching -OMIM:180473 RPS18 skos:exactMatch hgnc.symbol:RPS18 semapv:UnspecifiedMatching -OMIM:180473 RPS18 skos:exactMatch ncbigene:6222 semapv:UnspecifiedMatching -OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:10315 semapv:UnspecifiedMatching -OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:RPL22 semapv:UnspecifiedMatching -OMIM:180474 RPL22 skos:exactMatch ncbigene:6146 semapv:UnspecifiedMatching -OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:10302 semapv:UnspecifiedMatching -OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:RPL12 semapv:UnspecifiedMatching -OMIM:180475 RPL12 skos:exactMatch ncbigene:6136 semapv:UnspecifiedMatching -OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:10386 semapv:UnspecifiedMatching -OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:RPS13 semapv:UnspecifiedMatching -OMIM:180476 RPS13 skos:exactMatch ncbigene:6207 semapv:UnspecifiedMatching -OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:10409 semapv:UnspecifiedMatching -OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:RPS21 semapv:UnspecifiedMatching -OMIM:180477 RPS21 skos:exactMatch ncbigene:6227 semapv:UnspecifiedMatching -OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:10421 semapv:UnspecifiedMatching -OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:RPS3A semapv:UnspecifiedMatching -OMIM:180478 RPS3A skos:exactMatch ncbigene:6189 semapv:UnspecifiedMatching -OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:10353 semapv:UnspecifiedMatching -OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:RPL4 semapv:UnspecifiedMatching -OMIM:180479 RPL4 skos:exactMatch ncbigene:6124 semapv:UnspecifiedMatching -OMIM:180480 RPE skos:exactMatch hgnc.symbol:10293 semapv:UnspecifiedMatching -OMIM:180480 RPE skos:exactMatch hgnc.symbol:RPE semapv:UnspecifiedMatching -OMIM:180480 RPE skos:exactMatch ncbigene:6120 semapv:UnspecifiedMatching -OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:10382 semapv:UnspecifiedMatching -OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:RPN2 semapv:UnspecifiedMatching -OMIM:180490 RPN2 skos:exactMatch ncbigene:6185 semapv:UnspecifiedMatching -OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:10371 semapv:UnspecifiedMatching -OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:RPLP0 semapv:UnspecifiedMatching -OMIM:180510 RPLP0 skos:exactMatch ncbigene:6175 semapv:UnspecifiedMatching -OMIM:180520 RPLP1 skos:exactMatch hgnc.symbol:10372 semapv:UnspecifiedMatching -OMIM:180520 RPLP1 skos:exactMatch hgnc.symbol:RPLP1 semapv:UnspecifiedMatching -OMIM:180520 RPLP1 skos:exactMatch ncbigene:6176 semapv:UnspecifiedMatching -OMIM:180530 RPLP2 skos:exactMatch hgnc.symbol:10377 semapv:UnspecifiedMatching -OMIM:180530 RPLP2 skos:exactMatch hgnc.symbol:RPLP2 semapv:UnspecifiedMatching -OMIM:180530 RPLP2 skos:exactMatch ncbigene:6181 semapv:UnspecifiedMatching -OMIM:180535 RPS15 skos:exactMatch hgnc.symbol:10388 semapv:UnspecifiedMatching -OMIM:180535 RPS15 skos:exactMatch hgnc.symbol:RPS15 semapv:UnspecifiedMatching -OMIM:180535 RPS15 skos:exactMatch ncbigene:6209 semapv:UnspecifiedMatching -OMIM:180550 ring dermoid of cornea skos:exactMatch Orphanet:91481 semapv:UnspecifiedMatching -OMIM:180550 ring dermoid of cornea skos:exactMatch UMLS:C1867155 semapv:UnspecifiedMatching -OMIM:180610 RLF skos:exactMatch hgnc.symbol:10025 semapv:UnspecifiedMatching -OMIM:180610 RLF skos:exactMatch hgnc.symbol:RLF semapv:UnspecifiedMatching -OMIM:180610 RLF skos:exactMatch ncbigene:6018 semapv:UnspecifiedMatching -OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc.symbol:12322 semapv:UnspecifiedMatching -OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc.symbol:TRX-CAT2-1 semapv:UnspecifiedMatching -OMIM:180620 TRX-CAT2-1 skos:exactMatch ncbigene:7212 semapv:UnspecifiedMatching -OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:12318 semapv:UnspecifiedMatching -OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:TRX-CAT1-2 semapv:UnspecifiedMatching -OMIM:180621 TRX-CAT1-2 skos:exactMatch ncbigene:7210 semapv:UnspecifiedMatching -OMIM:180630 DDX5 skos:exactMatch UMLS:C1413963 semapv:UnspecifiedMatching -OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:2746 semapv:UnspecifiedMatching -OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:DDX5 semapv:UnspecifiedMatching -OMIM:180630 DDX5 skos:exactMatch ncbigene:1655 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch UMLS:C1421113 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:12265 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:TRE-TTC3-1 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch ncbigene:7193 semapv:UnspecifiedMatching -OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:10115 semapv:UnspecifiedMatching -OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:SNORA73A semapv:UnspecifiedMatching -OMIM:180645 SNORA73A skos:exactMatch ncbigene:6080 semapv:UnspecifiedMatching -OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:10107 semapv:UnspecifiedMatching -OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:SNORA62 semapv:UnspecifiedMatching -OMIM:180646 SNORA62 skos:exactMatch ncbigene:6044 semapv:UnspecifiedMatching -OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:10106 semapv:UnspecifiedMatching -OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:SNORA63 semapv:UnspecifiedMatching -OMIM:180647 SNORA63 skos:exactMatch ncbigene:6043 semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch UMLS:C1335231 semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch UMLS:C5231423 semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:9187 semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:POLR2A semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch ncbigene:5430 semapv:UnspecifiedMatching -OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:9188 semapv:UnspecifiedMatching -OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:POLR2B semapv:UnspecifiedMatching -OMIM:180661 POLR2B skos:exactMatch ncbigene:5431 semapv:UnspecifiedMatching -OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:9196 semapv:UnspecifiedMatching -OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:POLR2I semapv:UnspecifiedMatching -OMIM:180662 POLR2I skos:exactMatch ncbigene:5438 semapv:UnspecifiedMatching -OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:9189 semapv:UnspecifiedMatching -OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:POLR2C semapv:UnspecifiedMatching -OMIM:180663 POLR2C skos:exactMatch ncbigene:5432 semapv:UnspecifiedMatching -OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:9192 semapv:UnspecifiedMatching -OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:POLR2E semapv:UnspecifiedMatching -OMIM:180664 POLR2E skos:exactMatch ncbigene:5434 semapv:UnspecifiedMatching -OMIM:180680 RNU1A skos:exactMatch UMLS:C1419475 semapv:UnspecifiedMatching -OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:10128 semapv:UnspecifiedMatching -OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:RNU1-4 semapv:UnspecifiedMatching -OMIM:180680 RNU1A skos:exactMatch ncbigene:6060 semapv:UnspecifiedMatching -OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:10142 semapv:UnspecifiedMatching -OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:RNU2-1 semapv:UnspecifiedMatching -OMIM:180690 RNU2-1 skos:exactMatch ncbigene:6066 semapv:UnspecifiedMatching -OMIM:180691 RNU5A-1 skos:exactMatch hgnc.symbol:10211 semapv:UnspecifiedMatching -OMIM:180691 RNU5A-1 skos:exactMatch hgnc.symbol:RNU5A-1 semapv:UnspecifiedMatching -OMIM:180691 RNU5A-1 skos:exactMatch ncbigene:26831 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch UMLS:C1419574 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:10227 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:RNU6-1 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch ncbigene:26827 semapv:UnspecifiedMatching -OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:33189 semapv:UnspecifiedMatching -OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:SNORD3A semapv:UnspecifiedMatching -OMIM:180710 SNORD3A skos:exactMatch ncbigene:780851 semapv:UnspecifiedMatching -OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:10254 semapv:UnspecifiedMatching -OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:ROM1 semapv:UnspecifiedMatching -OMIM:180721 ROM1 skos:exactMatch ncbigene:6094 semapv:UnspecifiedMatching -OMIM:180740 SNRNP70 skos:exactMatch UMLS:C1420282 semapv:UnspecifiedMatching -OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:11150 semapv:UnspecifiedMatching -OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:SNRNP70 semapv:UnspecifiedMatching -OMIM:180740 SNRNP70 skos:exactMatch ncbigene:6625 semapv:UnspecifiedMatching -OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch Orphanet:3115 semapv:UnspecifiedMatching -OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching -OMIM:180860 silver-russell syndrome 1 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching -OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching -OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C5393125 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C1419778 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C1840365 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C2930980 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch UMLS:C4016368 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch hgnc.symbol:10483 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch hgnc.symbol:RYR1 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch ncbigene:6261 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch UMLS:C1419779 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch UMLS:C1832931 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch UMLS:C4016369 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:10484 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:RYR2 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch ncbigene:6262 semapv:UnspecifiedMatching -OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:10485 semapv:UnspecifiedMatching -OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:RYR3 semapv:UnspecifiedMatching -OMIM:180903 RYR3 skos:exactMatch ncbigene:6263 semapv:UnspecifiedMatching -OMIM:180950 salivary substance, clostridium botulinum iia skos:exactMatch UMLS:C1867056 semapv:UnspecifiedMatching -OMIM:180960 AHCY skos:exactMatch hgnc.symbol:343 semapv:UnspecifiedMatching -OMIM:180960 AHCY skos:exactMatch hgnc.symbol:AHCY semapv:UnspecifiedMatching -OMIM:180960 AHCY skos:exactMatch ncbigene:191 semapv:UnspecifiedMatching -OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:457 semapv:UnspecifiedMatching -OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:AMD1 semapv:UnspecifiedMatching -OMIM:180980 AMD1 skos:exactMatch ncbigene:262 semapv:UnspecifiedMatching -OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:9337 semapv:UnspecifiedMatching -OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:PRB1 semapv:UnspecifiedMatching -OMIM:180989 PRB1 skos:exactMatch ncbigene:5542 semapv:UnspecifiedMatching -OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:9340 semapv:UnspecifiedMatching -OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:PRB4 semapv:UnspecifiedMatching -OMIM:180990 PRB4 skos:exactMatch ncbigene:5545 semapv:UnspecifiedMatching -OMIM:181031 SAG skos:exactMatch hgnc.symbol:10521 semapv:UnspecifiedMatching -OMIM:181031 SAG skos:exactMatch hgnc.symbol:SAG semapv:UnspecifiedMatching -OMIM:181031 SAG skos:exactMatch ncbigene:6295 semapv:UnspecifiedMatching -OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:10539 semapv:UnspecifiedMatching -OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:TSPAN31 semapv:UnspecifiedMatching -OMIM:181035 TSPAN31 skos:exactMatch ncbigene:6302 semapv:UnspecifiedMatching -OMIM:181500 schizophrenia skos:exactMatch UMLS:C0036341 semapv:UnspecifiedMatching -OMIM:181500 schizophrenia skos:exactMatch UMLS:C4538533 semapv:UnspecifiedMatching -OMIM:181590 STIL skos:exactMatch UMLS:C1420065 semapv:UnspecifiedMatching -OMIM:181590 STIL skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching -OMIM:181590 STIL skos:exactMatch hgnc.symbol:10879 semapv:UnspecifiedMatching -OMIM:181590 STIL skos:exactMatch hgnc.symbol:STIL semapv:UnspecifiedMatching -OMIM:181590 STIL skos:exactMatch ncbigene:6491 semapv:UnspecifiedMatching -OMIM:182090 SSAV1 skos:exactMatch ncbigene:6739 semapv:UnspecifiedMatching -OMIM:182098 SCTR skos:exactMatch hgnc.symbol:10608 semapv:UnspecifiedMatching -OMIM:182098 SCTR skos:exactMatch hgnc.symbol:SCTR semapv:UnspecifiedMatching -OMIM:182098 SCTR skos:exactMatch ncbigene:6344 semapv:UnspecifiedMatching -OMIM:182099 SCT skos:exactMatch hgnc.symbol:10607 semapv:UnspecifiedMatching -OMIM:182099 SCT skos:exactMatch hgnc.symbol:SCT semapv:UnspecifiedMatching -OMIM:182099 SCT skos:exactMatch ncbigene:6343 semapv:UnspecifiedMatching -OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:4013 semapv:UnspecifiedMatching -OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:FUT2 semapv:UnspecifiedMatching -OMIM:182100 FUT2 skos:exactMatch ncbigene:2524 semapv:UnspecifiedMatching -OMIM:182115 CYTH1 skos:exactMatch hgnc.symbol:9501 semapv:UnspecifiedMatching -OMIM:182115 CYTH1 skos:exactMatch hgnc.symbol:CYTH1 semapv:UnspecifiedMatching -OMIM:182115 CYTH1 skos:exactMatch ncbigene:9267 semapv:UnspecifiedMatching -OMIM:182120 SPARC skos:exactMatch hgnc.symbol:11219 semapv:UnspecifiedMatching -OMIM:182120 SPARC skos:exactMatch hgnc.symbol:SPARC semapv:UnspecifiedMatching -OMIM:182120 SPARC skos:exactMatch ncbigene:6678 semapv:UnspecifiedMatching -OMIM:182125 SPR skos:exactMatch hgnc.symbol:11257 semapv:UnspecifiedMatching -OMIM:182125 SPR skos:exactMatch hgnc.symbol:SPR semapv:UnspecifiedMatching -OMIM:182125 SPR skos:exactMatch ncbigene:6697 semapv:UnspecifiedMatching -OMIM:182128 SDS skos:exactMatch hgnc.symbol:10691 semapv:UnspecifiedMatching -OMIM:182128 SDS skos:exactMatch hgnc.symbol:SDS semapv:UnspecifiedMatching -OMIM:182128 SDS skos:exactMatch ncbigene:10993 semapv:UnspecifiedMatching -OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:5287 semapv:UnspecifiedMatching -OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:HTR1B semapv:UnspecifiedMatching -OMIM:182131 HTR1B skos:exactMatch ncbigene:3351 semapv:UnspecifiedMatching -OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:5291 semapv:UnspecifiedMatching -OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:HTR1E semapv:UnspecifiedMatching -OMIM:182132 HTR1E skos:exactMatch ncbigene:3354 semapv:UnspecifiedMatching -OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:5289 semapv:UnspecifiedMatching -OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:HTR1D semapv:UnspecifiedMatching -OMIM:182133 HTR1D skos:exactMatch ncbigene:3352 semapv:UnspecifiedMatching -OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:5292 semapv:UnspecifiedMatching -OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:HTR1F semapv:UnspecifiedMatching -OMIM:182134 HTR1F skos:exactMatch ncbigene:3355 semapv:UnspecifiedMatching -OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:5293 semapv:UnspecifiedMatching -OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:HTR2A semapv:UnspecifiedMatching -OMIM:182135 HTR2A skos:exactMatch ncbigene:3356 semapv:UnspecifiedMatching -OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:5302 semapv:UnspecifiedMatching -OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:HTR7 semapv:UnspecifiedMatching -OMIM:182137 HTR7 skos:exactMatch ncbigene:3363 semapv:UnspecifiedMatching -OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:11050 semapv:UnspecifiedMatching -OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:SLC6A4 semapv:UnspecifiedMatching -OMIM:182138 SLC6A4 skos:exactMatch ncbigene:6532 semapv:UnspecifiedMatching -OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:5297 semapv:UnspecifiedMatching -OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:HTR3A semapv:UnspecifiedMatching -OMIM:182139 HTR3A skos:exactMatch ncbigene:3359 semapv:UnspecifiedMatching -OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:10742 semapv:UnspecifiedMatching -OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:SEMG1 semapv:UnspecifiedMatching -OMIM:182140 SEMG1 skos:exactMatch ncbigene:6406 semapv:UnspecifiedMatching -OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:10743 semapv:UnspecifiedMatching -OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:SEMG2 semapv:UnspecifiedMatching -OMIM:182141 SEMG2 skos:exactMatch ncbigene:6407 semapv:UnspecifiedMatching -OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:10850 semapv:UnspecifiedMatching -OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:SHMT1 semapv:UnspecifiedMatching -OMIM:182144 SHMT1 skos:exactMatch ncbigene:6470 semapv:UnspecifiedMatching -OMIM:182160 SPN skos:exactMatch hgnc.symbol:11249 semapv:UnspecifiedMatching -OMIM:182160 SPN skos:exactMatch hgnc.symbol:SPN semapv:UnspecifiedMatching -OMIM:182160 SPN skos:exactMatch ncbigene:6693 semapv:UnspecifiedMatching -OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:11300 semapv:UnspecifiedMatching -OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:SRP19 semapv:UnspecifiedMatching -OMIM:182175 SRP19 skos:exactMatch ncbigene:6728 semapv:UnspecifiedMatching -OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:11307 semapv:UnspecifiedMatching -OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:SRPRA semapv:UnspecifiedMatching -OMIM:182180 SRPRA skos:exactMatch ncbigene:6734 semapv:UnspecifiedMatching -OMIM:182205 SHBG skos:exactMatch hgnc.symbol:10839 semapv:UnspecifiedMatching -OMIM:182205 SHBG skos:exactMatch hgnc.symbol:SHBG semapv:UnspecifiedMatching -OMIM:182205 SHBG skos:exactMatch ncbigene:6462 semapv:UnspecifiedMatching -OMIM:182257 PI3 skos:exactMatch hgnc.symbol:8947 semapv:UnspecifiedMatching -OMIM:182257 PI3 skos:exactMatch hgnc.symbol:PI3 semapv:UnspecifiedMatching -OMIM:182257 PI3 skos:exactMatch ncbigene:5266 semapv:UnspecifiedMatching -OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:11259 semapv:UnspecifiedMatching -OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:SPRR1A semapv:UnspecifiedMatching -OMIM:182265 SPRR1A skos:exactMatch ncbigene:6698 semapv:UnspecifiedMatching -OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:11260 semapv:UnspecifiedMatching -OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:SPRR1B semapv:UnspecifiedMatching -OMIM:182266 SPRR1B skos:exactMatch ncbigene:6699 semapv:UnspecifiedMatching -OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:11261 semapv:UnspecifiedMatching -OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:SPRR2A semapv:UnspecifiedMatching -OMIM:182267 SPRR2A skos:exactMatch ncbigene:6700 semapv:UnspecifiedMatching -OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:11262 semapv:UnspecifiedMatching -OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:SPRR2B semapv:UnspecifiedMatching -OMIM:182268 SPRR2B skos:exactMatch ncbigene:6701 semapv:UnspecifiedMatching -OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:11263 semapv:UnspecifiedMatching -OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:SPRR2C semapv:UnspecifiedMatching -OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:11268 semapv:UnspecifiedMatching -OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:SPRR3 semapv:UnspecifiedMatching -OMIM:182271 SPRR3 skos:exactMatch ncbigene:6707 semapv:UnspecifiedMatching -OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:11164 semapv:UnspecifiedMatching -OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:SNRPN semapv:UnspecifiedMatching -OMIM:182279 SNRPN skos:exactMatch ncbigene:6638 semapv:UnspecifiedMatching -OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:10609 semapv:UnspecifiedMatching -OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:CCL1 semapv:UnspecifiedMatching -OMIM:182281 CCL1 skos:exactMatch ncbigene:6346 semapv:UnspecifiedMatching -OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:11153 semapv:UnspecifiedMatching -OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:SNRPB semapv:UnspecifiedMatching -OMIM:182282 SNRPB skos:exactMatch ncbigene:6628 semapv:UnspecifiedMatching -OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:10627 semapv:UnspecifiedMatching -OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:CCL3 semapv:UnspecifiedMatching -OMIM:182283 CCL3 skos:exactMatch ncbigene:6348 semapv:UnspecifiedMatching -OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:10630 semapv:UnspecifiedMatching -OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:CCL4 semapv:UnspecifiedMatching -OMIM:182284 CCL4 skos:exactMatch ncbigene:6351 semapv:UnspecifiedMatching -OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:11151 semapv:UnspecifiedMatching -OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:SNRPA semapv:UnspecifiedMatching -OMIM:182285 SNRPA skos:exactMatch ncbigene:6626 semapv:UnspecifiedMatching -OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:11068 semapv:UnspecifiedMatching -OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:SLC8A1 semapv:UnspecifiedMatching -OMIM:182305 SLC8A1 skos:exactMatch ncbigene:6546 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch UMLS:C1420234 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:11073 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:SLC9A3 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch ncbigene:6550 semapv:UnspecifiedMatching -OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:10929 semapv:UnspecifiedMatching -OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:SLC17A1 semapv:UnspecifiedMatching -OMIM:182308 SLC17A1 skos:exactMatch ncbigene:6568 semapv:UnspecifiedMatching -OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:11019 semapv:UnspecifiedMatching -OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:SLC34A1 semapv:UnspecifiedMatching -OMIM:182309 SLC34A1 skos:exactMatch ncbigene:6569 semapv:UnspecifiedMatching -OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:799 semapv:UnspecifiedMatching -OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:ATP1A1 semapv:UnspecifiedMatching -OMIM:182310 ATP1A1 skos:exactMatch ncbigene:476 semapv:UnspecifiedMatching -OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:804 semapv:UnspecifiedMatching -OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:ATP1B1 semapv:UnspecifiedMatching -OMIM:182330 ATP1B1 skos:exactMatch ncbigene:481 semapv:UnspecifiedMatching -OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:805 semapv:UnspecifiedMatching -OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:ATP1B2 semapv:UnspecifiedMatching -OMIM:182331 ATP1B2 skos:exactMatch ncbigene:482 semapv:UnspecifiedMatching -OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:800 semapv:UnspecifiedMatching -OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:ATP1A2 semapv:UnspecifiedMatching -OMIM:182340 ATP1A2 skos:exactMatch ncbigene:477 semapv:UnspecifiedMatching -OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:801 semapv:UnspecifiedMatching -OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:ATP1A3 semapv:UnspecifiedMatching -OMIM:182350 ATP1A3 skos:exactMatch ncbigene:478 semapv:UnspecifiedMatching -OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:13816 semapv:UnspecifiedMatching -OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:ATP12A semapv:UnspecifiedMatching -OMIM:182360 ATP12A skos:exactMatch ncbigene:479 semapv:UnspecifiedMatching -OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:11036 semapv:UnspecifiedMatching -OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:SLC5A1 semapv:UnspecifiedMatching -OMIM:182380 SLC5A1 skos:exactMatch ncbigene:6523 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch UMLS:C1420201 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch UMLS:C4016376 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:11037 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:SLC5A2 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch ncbigene:6524 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C1419856 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch UMLS:C4016377 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:10585 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:SCN1A semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch ncbigene:6323 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch UMLS:C1419858 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:10588 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:SCN2A semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch ncbigene:6326 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch UMLS:C1419861 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:10590 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:SCN3A semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch ncbigene:6328 semapv:UnspecifiedMatching -OMIM:182392 SCN7A skos:exactMatch UMLS:C1419865 semapv:UnspecifiedMatching -OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:10594 semapv:UnspecifiedMatching -OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:SCN7A semapv:UnspecifiedMatching -OMIM:182392 SCN7A skos:exactMatch ncbigene:6332 semapv:UnspecifiedMatching -OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:10905 semapv:UnspecifiedMatching -OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:SLC10A1 semapv:UnspecifiedMatching -OMIM:182396 SLC10A1 skos:exactMatch ncbigene:6554 semapv:UnspecifiedMatching -OMIM:182450 SST skos:exactMatch hgnc.symbol:11329 semapv:UnspecifiedMatching -OMIM:182450 SST skos:exactMatch hgnc.symbol:SST semapv:UnspecifiedMatching -OMIM:182450 SST skos:exactMatch ncbigene:6750 semapv:UnspecifiedMatching -OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:11330 semapv:UnspecifiedMatching -OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:SSTR1 semapv:UnspecifiedMatching -OMIM:182451 SSTR1 skos:exactMatch ncbigene:6751 semapv:UnspecifiedMatching -OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:11331 semapv:UnspecifiedMatching -OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:SSTR2 semapv:UnspecifiedMatching -OMIM:182452 SSTR2 skos:exactMatch ncbigene:6752 semapv:UnspecifiedMatching -OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:11332 semapv:UnspecifiedMatching -OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:SSTR3 semapv:UnspecifiedMatching -OMIM:182453 SSTR3 skos:exactMatch ncbigene:6753 semapv:UnspecifiedMatching -OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:11333 semapv:UnspecifiedMatching -OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:SSTR4 semapv:UnspecifiedMatching -OMIM:182454 SSTR4 skos:exactMatch ncbigene:6754 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch UMLS:C1335870 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch UMLS:C5436944 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:11334 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:SSTR5 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch ncbigene:6755 semapv:UnspecifiedMatching -OMIM:182465 SON skos:exactMatch hgnc.symbol:11183 semapv:UnspecifiedMatching -OMIM:182465 SON skos:exactMatch hgnc.symbol:SON semapv:UnspecifiedMatching -OMIM:182465 SON skos:exactMatch ncbigene:6651 semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch UMLS:C1420311 semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch hgnc.symbol:11184 semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch hgnc.symbol:SORD semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch ncbigene:6652 semapv:UnspecifiedMatching -OMIM:182520 SRI skos:exactMatch hgnc.symbol:11292 semapv:UnspecifiedMatching -OMIM:182520 SRI skos:exactMatch hgnc.symbol:SRI semapv:UnspecifiedMatching -OMIM:182520 SRI skos:exactMatch ncbigene:6717 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch UMLS:C1420314 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch UMLS:C4551558 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:11187 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:SOS1 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch ncbigene:6654 semapv:UnspecifiedMatching -OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:11756 semapv:UnspecifiedMatching -OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:TFF2 semapv:UnspecifiedMatching -OMIM:182590 TFF2 skos:exactMatch ncbigene:7032 semapv:UnspecifiedMatching -OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch Orphanet:100984 semapv:UnspecifiedMatching -OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch UMLS:C2931355 semapv:UnspecifiedMatching -OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:11275 semapv:UnspecifiedMatching -OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:SPTBN1 semapv:UnspecifiedMatching -OMIM:182790 SPTBN1 skos:exactMatch ncbigene:6711 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch UMLS:C1420386 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:11273 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:SPTAN1 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch ncbigene:6709 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch UMLS:C0520739 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch UMLS:C1420385 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch UMLS:C1851741 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch UMLS:C4016379 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310960 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310961 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:11272 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:SPTA1 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch ncbigene:6708 semapv:UnspecifiedMatching -OMIM:182870 SPTB skos:exactMatch hgnc.symbol:11274 semapv:UnspecifiedMatching -OMIM:182870 SPTB skos:exactMatch hgnc.symbol:SPTB semapv:UnspecifiedMatching -OMIM:182870 SPTB skos:exactMatch ncbigene:6710 semapv:UnspecifiedMatching -OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:8113 semapv:UnspecifiedMatching -OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:ODF1 semapv:UnspecifiedMatching -OMIM:182878 ODF1 skos:exactMatch ncbigene:4956 semapv:UnspecifiedMatching -OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:9447 semapv:UnspecifiedMatching -OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:PRM1 semapv:UnspecifiedMatching -OMIM:182880 PRM1 skos:exactMatch ncbigene:5619 semapv:UnspecifiedMatching -OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:13188 semapv:UnspecifiedMatching -OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:ZP2 semapv:UnspecifiedMatching -OMIM:182888 ZP2 skos:exactMatch ncbigene:7783 semapv:UnspecifiedMatching -OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:13189 semapv:UnspecifiedMatching -OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:ZP3 semapv:UnspecifiedMatching -OMIM:182889 ZP3 skos:exactMatch ncbigene:7784 semapv:UnspecifiedMatching -OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:9448 semapv:UnspecifiedMatching -OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:PRM2 semapv:UnspecifiedMatching -OMIM:182890 PRM2 skos:exactMatch ncbigene:5620 semapv:UnspecifiedMatching -OMIM:182891 SRM skos:exactMatch hgnc.symbol:11296 semapv:UnspecifiedMatching -OMIM:182891 SRM skos:exactMatch hgnc.symbol:SRM semapv:UnspecifiedMatching -OMIM:182891 SRM skos:exactMatch ncbigene:6723 semapv:UnspecifiedMatching -OMIM:182920 skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching -OMIM:182920 skos:exactMatch UMLS:C1866785 semapv:UnspecifiedMatching -OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 semapv:UnspecifiedMatching -OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch UMLS:C1866784 semapv:UnspecifiedMatching -OMIM:183600 split-hand/foot malformation 1 skos:exactMatch Orphanet:2440 semapv:UnspecifiedMatching -OMIM:183600 split-hand/foot malformation 1 skos:exactMatch UMLS:C2931019 semapv:UnspecifiedMatching -OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:3629 semapv:UnspecifiedMatching -OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:FDFT1 semapv:UnspecifiedMatching -OMIM:184420 FDFT1 skos:exactMatch ncbigene:2222 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch UMLS:C1420322 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch UMLS:C1859773 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch UMLS:C1859774 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:11195 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:SOX2 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch ncbigene:6657 semapv:UnspecifiedMatching -OMIM:184430 SOX4 skos:exactMatch UMLS:C1420327 semapv:UnspecifiedMatching -OMIM:184430 SOX4 skos:exactMatch UMLS:C4760583 semapv:UnspecifiedMatching -OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:11200 semapv:UnspecifiedMatching -OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:SOX4 semapv:UnspecifiedMatching -OMIM:184430 SOX4 skos:exactMatch ncbigene:6659 semapv:UnspecifiedMatching -OMIM:184470 STATH skos:exactMatch hgnc.symbol:11369 semapv:UnspecifiedMatching -OMIM:184470 STATH skos:exactMatch hgnc.symbol:STATH semapv:UnspecifiedMatching -OMIM:184470 STATH skos:exactMatch ncbigene:6779 semapv:UnspecifiedMatching -OMIM:184600 CSTA skos:exactMatch hgnc.symbol:2481 semapv:UnspecifiedMatching -OMIM:184600 CSTA skos:exactMatch hgnc.symbol:CSTA semapv:UnspecifiedMatching -OMIM:184600 CSTA skos:exactMatch ncbigene:1475 semapv:UnspecifiedMatching -OMIM:184745 KITLG skos:exactMatch hgnc.symbol:6343 semapv:UnspecifiedMatching -OMIM:184745 KITLG skos:exactMatch hgnc.symbol:KITLG semapv:UnspecifiedMatching -OMIM:184745 KITLG skos:exactMatch ncbigene:4254 semapv:UnspecifiedMatching -OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:11284 semapv:UnspecifiedMatching -OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:SRD5A1 semapv:UnspecifiedMatching -OMIM:184753 SRD5A1 skos:exactMatch ncbigene:6715 semapv:UnspecifiedMatching -OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:10606 semapv:UnspecifiedMatching -OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:SCP2 semapv:UnspecifiedMatching -OMIM:184755 SCP2 skos:exactMatch ncbigene:6342 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch UMLS:C1420398 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:11289 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:SREBF1 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch ncbigene:6720 semapv:UnspecifiedMatching -OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:7983 semapv:UnspecifiedMatching -OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:NR5A1 semapv:UnspecifiedMatching -OMIM:184757 NR5A1 skos:exactMatch ncbigene:2516 semapv:UnspecifiedMatching -OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:7173 semapv:UnspecifiedMatching -OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:MMP3 semapv:UnspecifiedMatching -OMIM:185250 MMP3 skos:exactMatch ncbigene:4314 semapv:UnspecifiedMatching -OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:7156 semapv:UnspecifiedMatching -OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:MMP10 semapv:UnspecifiedMatching -OMIM:185260 MMP10 skos:exactMatch ncbigene:4319 semapv:UnspecifiedMatching -OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:7157 semapv:UnspecifiedMatching -OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:MMP11 semapv:UnspecifiedMatching -OMIM:185261 MMP11 skos:exactMatch ncbigene:4320 semapv:UnspecifiedMatching -OMIM:185300 sturge-weber syndrome skos:exactMatch Orphanet:3205 semapv:UnspecifiedMatching -OMIM:185300 sturge-weber syndrome skos:exactMatch UMLS:C0038505 semapv:UnspecifiedMatching -OMIM:185430 CLU skos:exactMatch hgnc.symbol:2095 semapv:UnspecifiedMatching -OMIM:185430 CLU skos:exactMatch hgnc.symbol:CLU semapv:UnspecifiedMatching -OMIM:185430 CLU skos:exactMatch ncbigene:1191 semapv:UnspecifiedMatching -OMIM:185440 ST2 skos:exactMatch ncbigene:6761 semapv:UnspecifiedMatching -OMIM:185470 SDHB skos:exactMatch hgnc.symbol:10681 semapv:UnspecifiedMatching -OMIM:185470 SDHB skos:exactMatch hgnc.symbol:SDHB semapv:UnspecifiedMatching -OMIM:185470 SDHB skos:exactMatch ncbigene:6390 semapv:UnspecifiedMatching -OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:11181 semapv:UnspecifiedMatching -OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:SOD3 semapv:UnspecifiedMatching -OMIM:185490 SOD3 skos:exactMatch ncbigene:6649 semapv:UnspecifiedMatching -OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:11529 semapv:UnspecifiedMatching -OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:EPCAM semapv:UnspecifiedMatching -OMIM:185535 EPCAM skos:exactMatch ncbigene:4072 semapv:UnspecifiedMatching -OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:11509 semapv:UnspecifiedMatching -OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:SYT1 semapv:UnspecifiedMatching -OMIM:185605 SYT1 skos:exactMatch ncbigene:6857 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch UMLS:C1420527 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch UMLS:C4225246 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:11474 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:SURF1 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch ncbigene:6834 semapv:UnspecifiedMatching -OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:11475 semapv:UnspecifiedMatching -OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:SURF2 semapv:UnspecifiedMatching -OMIM:185630 SURF2 skos:exactMatch ncbigene:6835 semapv:UnspecifiedMatching -OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:10364 semapv:UnspecifiedMatching -OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:RPL7A semapv:UnspecifiedMatching -OMIM:185640 RPL7A skos:exactMatch ncbigene:6130 semapv:UnspecifiedMatching -OMIM:185641 MED22 skos:exactMatch hgnc.symbol:11477 semapv:UnspecifiedMatching -OMIM:185641 MED22 skos:exactMatch hgnc.symbol:MED22 semapv:UnspecifiedMatching -OMIM:185641 MED22 skos:exactMatch ncbigene:6837 semapv:UnspecifiedMatching -OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:11478 semapv:UnspecifiedMatching -OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:SURF6 semapv:UnspecifiedMatching -OMIM:185642 SURF6 skos:exactMatch ncbigene:6838 semapv:UnspecifiedMatching -OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:11476 semapv:UnspecifiedMatching -OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:SURF4 semapv:UnspecifiedMatching -OMIM:185660 SURF4 skos:exactMatch ncbigene:6836 semapv:UnspecifiedMatching -OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 semapv:UnspecifiedMatching -OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching -OMIM:185860 SV2A skos:exactMatch hgnc.symbol:20566 semapv:UnspecifiedMatching -OMIM:185860 SV2A skos:exactMatch hgnc.symbol:SV2A semapv:UnspecifiedMatching -OMIM:185860 SV2A skos:exactMatch ncbigene:9900 semapv:UnspecifiedMatching -OMIM:185861 SV2B skos:exactMatch hgnc.symbol:16874 semapv:UnspecifiedMatching -OMIM:185861 SV2B skos:exactMatch hgnc.symbol:SV2B semapv:UnspecifiedMatching -OMIM:185861 SV2B skos:exactMatch ncbigene:9899 semapv:UnspecifiedMatching -OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:12642 semapv:UnspecifiedMatching -OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:VAMP1 semapv:UnspecifiedMatching -OMIM:185880 VAMP1 skos:exactMatch ncbigene:6843 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch UMLS:C1421419 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231518 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231519 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:12643 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:VAMP2 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch ncbigene:6844 semapv:UnspecifiedMatching -OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:1527 semapv:UnspecifiedMatching -OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching -OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch UMLS:C1861380 semapv:UnspecifiedMatching -OMIM:186100 syndactyly, iia 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching -OMIM:186100 syndactyly, iia 3 skos:exactMatch UMLS:C1861366 semapv:UnspecifiedMatching -OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:10658 semapv:UnspecifiedMatching -OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:SDC1 semapv:UnspecifiedMatching -OMIM:186355 SDC1 skos:exactMatch ncbigene:6382 semapv:UnspecifiedMatching -OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:10660 semapv:UnspecifiedMatching -OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:SDC3 semapv:UnspecifiedMatching -OMIM:186357 SDC3 skos:exactMatch ncbigene:9672 semapv:UnspecifiedMatching -OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:545 semapv:UnspecifiedMatching -OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:ANXA7 semapv:UnspecifiedMatching -OMIM:186360 ANXA7 skos:exactMatch ncbigene:310 semapv:UnspecifiedMatching -OMIM:186590 STX1A skos:exactMatch hgnc.symbol:11433 semapv:UnspecifiedMatching -OMIM:186590 STX1A skos:exactMatch hgnc.symbol:STX1A semapv:UnspecifiedMatching -OMIM:186590 STX1A skos:exactMatch ncbigene:6804 semapv:UnspecifiedMatching -OMIM:186591 STX4 skos:exactMatch hgnc.symbol:11439 semapv:UnspecifiedMatching -OMIM:186591 STX4 skos:exactMatch hgnc.symbol:STX4 semapv:UnspecifiedMatching -OMIM:186591 STX4 skos:exactMatch ncbigene:6810 semapv:UnspecifiedMatching -OMIM:186711 CD27 skos:exactMatch hgnc.symbol:11922 semapv:UnspecifiedMatching -OMIM:186711 CD27 skos:exactMatch hgnc.symbol:CD27 semapv:UnspecifiedMatching -OMIM:186711 CD27 skos:exactMatch ncbigene:939 semapv:UnspecifiedMatching -OMIM:186720 CD6 skos:exactMatch hgnc.symbol:1691 semapv:UnspecifiedMatching -OMIM:186720 CD6 skos:exactMatch hgnc.symbol:CD6 semapv:UnspecifiedMatching -OMIM:186720 CD6 skos:exactMatch ncbigene:923 semapv:UnspecifiedMatching -OMIM:186730 CD8B skos:exactMatch hgnc.symbol:1707 semapv:UnspecifiedMatching -OMIM:186730 CD8B skos:exactMatch hgnc.symbol:CD8B semapv:UnspecifiedMatching -OMIM:186730 CD8B skos:exactMatch ncbigene:926 semapv:UnspecifiedMatching -OMIM:186740 CD3G skos:exactMatch hgnc.symbol:1675 semapv:UnspecifiedMatching -OMIM:186740 CD3G skos:exactMatch hgnc.symbol:CD3G semapv:UnspecifiedMatching -OMIM:186740 CD3G skos:exactMatch ncbigene:917 semapv:UnspecifiedMatching -OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:11845 semapv:UnspecifiedMatching -OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:TLN1 semapv:UnspecifiedMatching -OMIM:186745 TLN1 skos:exactMatch ncbigene:7094 semapv:UnspecifiedMatching -OMIM:186760 CD28 skos:exactMatch hgnc.symbol:1653 semapv:UnspecifiedMatching -OMIM:186760 CD28 skos:exactMatch hgnc.symbol:CD28 semapv:UnspecifiedMatching -OMIM:186760 CD28 skos:exactMatch ncbigene:940 semapv:UnspecifiedMatching -OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:5056 semapv:UnspecifiedMatching -OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:TLX1 semapv:UnspecifiedMatching -OMIM:186770 TLX1 skos:exactMatch ncbigene:3195 semapv:UnspecifiedMatching -OMIM:186780 CD247 skos:exactMatch hgnc.symbol:1677 semapv:UnspecifiedMatching -OMIM:186780 CD247 skos:exactMatch hgnc.symbol:CD247 semapv:UnspecifiedMatching -OMIM:186780 CD247 skos:exactMatch ncbigene:919 semapv:UnspecifiedMatching -OMIM:186790 CD3D skos:exactMatch hgnc.symbol:1673 semapv:UnspecifiedMatching -OMIM:186790 CD3D skos:exactMatch hgnc.symbol:CD3D semapv:UnspecifiedMatching -OMIM:186790 CD3D skos:exactMatch ncbigene:915 semapv:UnspecifiedMatching -OMIM:186810 TRDC skos:exactMatch hgnc.symbol:12253 semapv:UnspecifiedMatching -OMIM:186810 TRDC skos:exactMatch hgnc.symbol:TRDC semapv:UnspecifiedMatching -OMIM:186810 TRDC skos:exactMatch ncbigene:28526 semapv:UnspecifiedMatching -OMIM:186820 CD7 skos:exactMatch hgnc.symbol:1695 semapv:UnspecifiedMatching -OMIM:186820 CD7 skos:exactMatch hgnc.symbol:CD7 semapv:UnspecifiedMatching -OMIM:186820 CD7 skos:exactMatch ncbigene:924 semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch UMLS:C1332711 semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch UMLS:C3810127 semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch UMLS:C3810128 semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch hgnc.symbol:1674 semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch hgnc.symbol:CD3E semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch ncbigene:916 semapv:UnspecifiedMatching -OMIM:186845 CD81 skos:exactMatch hgnc.symbol:1701 semapv:UnspecifiedMatching -OMIM:186845 CD81 skos:exactMatch hgnc.symbol:CD81 semapv:UnspecifiedMatching -OMIM:186845 CD81 skos:exactMatch ncbigene:975 semapv:UnspecifiedMatching -OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:9549 semapv:UnspecifiedMatching -OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:PSMC3 semapv:UnspecifiedMatching -OMIM:186852 PSMC3 skos:exactMatch ncbigene:5702 semapv:UnspecifiedMatching -OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:11052 semapv:UnspecifiedMatching -OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:SLC6A6 semapv:UnspecifiedMatching -OMIM:186854 SLC6A6 skos:exactMatch ncbigene:6533 semapv:UnspecifiedMatching -OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:11557 semapv:UnspecifiedMatching -OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:TAL2 semapv:UnspecifiedMatching -OMIM:186855 TAL2 skos:exactMatch ncbigene:6887 semapv:UnspecifiedMatching -OMIM:186860 TCL4 skos:exactMatch ncbigene:6946 semapv:UnspecifiedMatching -OMIM:186880 TRAC skos:exactMatch UMLS:C1420886 semapv:UnspecifiedMatching -OMIM:186880 TRAC skos:exactMatch UMLS:C3809332 semapv:UnspecifiedMatching -OMIM:186880 TRAC skos:exactMatch hgnc.symbol:12029 semapv:UnspecifiedMatching -OMIM:186880 TRAC skos:exactMatch hgnc.symbol:TRAC semapv:UnspecifiedMatching -OMIM:186880 TRAC skos:exactMatch ncbigene:28755 semapv:UnspecifiedMatching -OMIM:186910 CD8A skos:exactMatch hgnc.symbol:1706 semapv:UnspecifiedMatching -OMIM:186910 CD8A skos:exactMatch hgnc.symbol:CD8A semapv:UnspecifiedMatching -OMIM:186910 CD8A skos:exactMatch ncbigene:925 semapv:UnspecifiedMatching -OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:6641 semapv:UnspecifiedMatching -OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:LMO1 semapv:UnspecifiedMatching -OMIM:186921 LMO1 skos:exactMatch ncbigene:4004 semapv:UnspecifiedMatching -OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:12156 semapv:UnspecifiedMatching -OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:TRBC1 semapv:UnspecifiedMatching -OMIM:186930 TRBC1 skos:exactMatch ncbigene:28639 semapv:UnspecifiedMatching -OMIM:186940 CD4 skos:exactMatch hgnc.symbol:1678 semapv:UnspecifiedMatching -OMIM:186940 CD4 skos:exactMatch hgnc.symbol:CD4 semapv:UnspecifiedMatching -OMIM:186940 CD4 skos:exactMatch ncbigene:920 semapv:UnspecifiedMatching -OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:3711 semapv:UnspecifiedMatching -OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:FKBP1A semapv:UnspecifiedMatching -OMIM:186945 FKBP1A skos:exactMatch ncbigene:2280 semapv:UnspecifiedMatching -OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:3718 semapv:UnspecifiedMatching -OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:FKBP2 semapv:UnspecifiedMatching -OMIM:186946 FKBP2 skos:exactMatch ncbigene:2286 semapv:UnspecifiedMatching -OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:3719 semapv:UnspecifiedMatching -OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:FKBP3 semapv:UnspecifiedMatching -OMIM:186947 FKBP3 skos:exactMatch ncbigene:2287 semapv:UnspecifiedMatching -OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:11648 semapv:UnspecifiedMatching -OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:TCL1A semapv:UnspecifiedMatching -OMIM:186960 TCL1A skos:exactMatch ncbigene:8115 semapv:UnspecifiedMatching -OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:12275 semapv:UnspecifiedMatching -OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:TRGC1 semapv:UnspecifiedMatching -OMIM:186970 TRGC1 skos:exactMatch ncbigene:6966 semapv:UnspecifiedMatching -OMIM:186973 ITK skos:exactMatch hgnc.symbol:6171 semapv:UnspecifiedMatching -OMIM:186973 ITK skos:exactMatch hgnc.symbol:ITK semapv:UnspecifiedMatching -OMIM:186973 ITK skos:exactMatch ncbigene:3702 semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch UMLS:C1420661 semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:11693 semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:TCTE1 semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch ncbigene:202500 semapv:UnspecifiedMatching -OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:11695 semapv:UnspecifiedMatching -OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:DYNLT2 semapv:UnspecifiedMatching -OMIM:186977 TCTE3 skos:exactMatch ncbigene:6991 semapv:UnspecifiedMatching -OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:11655 semapv:UnspecifiedMatching -OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:TCP1 semapv:UnspecifiedMatching -OMIM:186980 TCP1 skos:exactMatch ncbigene:6950 semapv:UnspecifiedMatching -OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:11658 semapv:UnspecifiedMatching -OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:TCP11 semapv:UnspecifiedMatching -OMIM:186982 TCP11 skos:exactMatch ncbigene:6954 semapv:UnspecifiedMatching -OMIM:186990 CD2 skos:exactMatch hgnc.symbol:1639 semapv:UnspecifiedMatching -OMIM:186990 CD2 skos:exactMatch hgnc.symbol:CD2 semapv:UnspecifiedMatching -OMIM:186990 CD2 skos:exactMatch ncbigene:914 semapv:UnspecifiedMatching -OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:10632 semapv:UnspecifiedMatching -OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:CCL5 semapv:UnspecifiedMatching -OMIM:187011 CCL5 skos:exactMatch ncbigene:6352 semapv:UnspecifiedMatching -OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:11656 semapv:UnspecifiedMatching -OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:TCP10L3 semapv:UnspecifiedMatching -OMIM:187020 TCP10 skos:exactMatch ncbigene:6953 semapv:UnspecifiedMatching -OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:11556 semapv:UnspecifiedMatching -OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:TAL1 semapv:UnspecifiedMatching -OMIM:187040 TAL1 skos:exactMatch ncbigene:6886 semapv:UnspecifiedMatching -OMIM:187270 TERT skos:exactMatch hgnc.symbol:11730 semapv:UnspecifiedMatching -OMIM:187270 TERT skos:exactMatch hgnc.symbol:TERT semapv:UnspecifiedMatching -OMIM:187270 TERT skos:exactMatch ncbigene:7015 semapv:UnspecifiedMatching -OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:1080 semapv:UnspecifiedMatching -OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:POLR3D semapv:UnspecifiedMatching -OMIM:187280 POLR3D skos:exactMatch ncbigene:661 semapv:UnspecifiedMatching -OMIM:187380 TNC skos:exactMatch hgnc.symbol:5318 semapv:UnspecifiedMatching -OMIM:187380 TNC skos:exactMatch hgnc.symbol:TNC semapv:UnspecifiedMatching -OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching -OMIM:187395 TDGF1 skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching -OMIM:187395 TDGF1 skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching -OMIM:187410 DNTT skos:exactMatch hgnc.symbol:2983 semapv:UnspecifiedMatching -OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching -OMIM:187410 DNTT skos:exactMatch ncbigene:1791 semapv:UnspecifiedMatching -OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:12024 semapv:UnspecifiedMatching -OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:CRISP2 semapv:UnspecifiedMatching -OMIM:187430 CRISP2 skos:exactMatch ncbigene:7180 semapv:UnspecifiedMatching -OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:11891 semapv:UnspecifiedMatching -OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:CLEC3B semapv:UnspecifiedMatching -OMIM:187520 CLEC3B skos:exactMatch ncbigene:7123 semapv:UnspecifiedMatching -OMIM:187680 TPMT skos:exactMatch hgnc.symbol:12014 semapv:UnspecifiedMatching -OMIM:187680 TPMT skos:exactMatch hgnc.symbol:TPMT semapv:UnspecifiedMatching -OMIM:187680 TPMT skos:exactMatch ncbigene:7172 semapv:UnspecifiedMatching -OMIM:187700 TXN skos:exactMatch hgnc.symbol:12435 semapv:UnspecifiedMatching -OMIM:187700 TXN skos:exactMatch hgnc.symbol:TXN semapv:UnspecifiedMatching -OMIM:187700 TXN skos:exactMatch ncbigene:7295 semapv:UnspecifiedMatching -OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:11572 semapv:UnspecifiedMatching -OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:TARS1 semapv:UnspecifiedMatching -OMIM:187790 TARS1 skos:exactMatch ncbigene:6897 semapv:UnspecifiedMatching -OMIM:187930 F2R skos:exactMatch hgnc.symbol:3537 semapv:UnspecifiedMatching -OMIM:187930 F2R skos:exactMatch hgnc.symbol:F2R semapv:UnspecifiedMatching -OMIM:187930 F2R skos:exactMatch ncbigene:2149 semapv:UnspecifiedMatching -OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching -OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching -OMIM:187950 thrombocythemia 1 skos:exactMatch UMLS:C3277671 semapv:UnspecifiedMatching -OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:9241 semapv:UnspecifiedMatching -OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:PPBPP1 semapv:UnspecifiedMatching -OMIM:188035 PPBPL1 skos:exactMatch ncbigene:728045 semapv:UnspecifiedMatching -OMIM:188040 THBD skos:exactMatch hgnc.symbol:11784 semapv:UnspecifiedMatching -OMIM:188040 THBD skos:exactMatch hgnc.symbol:THBD semapv:UnspecifiedMatching -OMIM:188040 THBD skos:exactMatch ncbigene:7056 semapv:UnspecifiedMatching -OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:11785 semapv:UnspecifiedMatching -OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:THBS1 semapv:UnspecifiedMatching -OMIM:188060 THBS1 skos:exactMatch ncbigene:7057 semapv:UnspecifiedMatching -OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:11786 semapv:UnspecifiedMatching -OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:THBS2 semapv:UnspecifiedMatching -OMIM:188061 THBS2 skos:exactMatch ncbigene:7058 semapv:UnspecifiedMatching -OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:11787 semapv:UnspecifiedMatching -OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:THBS3 semapv:UnspecifiedMatching -OMIM:188062 THBS3 skos:exactMatch ncbigene:7059 semapv:UnspecifiedMatching -OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:11608 semapv:UnspecifiedMatching -OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:TBXA2R semapv:UnspecifiedMatching -OMIM:188070 TBXA2R skos:exactMatch ncbigene:6915 semapv:UnspecifiedMatching -OMIM:188230 THY1 skos:exactMatch hgnc.symbol:11801 semapv:UnspecifiedMatching -OMIM:188230 THY1 skos:exactMatch hgnc.symbol:THY1 semapv:UnspecifiedMatching -OMIM:188230 THY1 skos:exactMatch ncbigene:7070 semapv:UnspecifiedMatching -OMIM:188250 TK2 skos:exactMatch hgnc.symbol:11831 semapv:UnspecifiedMatching -OMIM:188250 TK2 skos:exactMatch hgnc.symbol:TK2 semapv:UnspecifiedMatching -OMIM:188250 TK2 skos:exactMatch ncbigene:7084 semapv:UnspecifiedMatching -OMIM:188300 TK1 skos:exactMatch hgnc.symbol:11830 semapv:UnspecifiedMatching -OMIM:188300 TK1 skos:exactMatch hgnc.symbol:TK1 semapv:UnspecifiedMatching -OMIM:188300 TK1 skos:exactMatch ncbigene:7083 semapv:UnspecifiedMatching -OMIM:188340 CD1C skos:exactMatch hgnc.symbol:1636 semapv:UnspecifiedMatching -OMIM:188340 CD1C skos:exactMatch hgnc.symbol:CD1C semapv:UnspecifiedMatching -OMIM:188340 CD1C skos:exactMatch ncbigene:911 semapv:UnspecifiedMatching -OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:3061 semapv:UnspecifiedMatching -OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:DTYMK semapv:UnspecifiedMatching -OMIM:188345 DTYMK skos:exactMatch ncbigene:1841 semapv:UnspecifiedMatching -OMIM:188350 TYMS skos:exactMatch hgnc.symbol:12441 semapv:UnspecifiedMatching -OMIM:188350 TYMS skos:exactMatch hgnc.symbol:TYMS semapv:UnspecifiedMatching -OMIM:188350 TYMS skos:exactMatch ncbigene:7298 semapv:UnspecifiedMatching -OMIM:188360 CD1B skos:exactMatch hgnc.symbol:1635 semapv:UnspecifiedMatching -OMIM:188360 CD1B skos:exactMatch hgnc.symbol:CD1B semapv:UnspecifiedMatching -OMIM:188360 CD1B skos:exactMatch ncbigene:910 semapv:UnspecifiedMatching -OMIM:188370 CD1A skos:exactMatch hgnc.symbol:1634 semapv:UnspecifiedMatching -OMIM:188370 CD1A skos:exactMatch hgnc.symbol:CD1A semapv:UnspecifiedMatching -OMIM:188370 CD1A skos:exactMatch ncbigene:909 semapv:UnspecifiedMatching -OMIM:188380 TMPO skos:exactMatch hgnc.symbol:11875 semapv:UnspecifiedMatching -OMIM:188380 TMPO skos:exactMatch hgnc.symbol:TMPO semapv:UnspecifiedMatching -OMIM:188380 TMPO skos:exactMatch ncbigene:7112 semapv:UnspecifiedMatching -OMIM:188390 PTMA skos:exactMatch hgnc.symbol:9623 semapv:UnspecifiedMatching -OMIM:188390 PTMA skos:exactMatch hgnc.symbol:PTMA semapv:UnspecifiedMatching -OMIM:188390 PTMA skos:exactMatch ncbigene:5757 semapv:UnspecifiedMatching -OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:11879 semapv:UnspecifiedMatching -OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:TMSB10 semapv:UnspecifiedMatching -OMIM:188399 TMSB10 skos:exactMatch ncbigene:9168 semapv:UnspecifiedMatching -OMIM:188400 digeorge syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching -OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching -OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C1414025 semapv:UnspecifiedMatching -OMIM:188410 CD1D skos:exactMatch hgnc.symbol:1637 semapv:UnspecifiedMatching -OMIM:188410 CD1D skos:exactMatch hgnc.symbol:CD1D semapv:UnspecifiedMatching -OMIM:188410 CD1D skos:exactMatch ncbigene:912 semapv:UnspecifiedMatching -OMIM:188411 CD1E skos:exactMatch hgnc.symbol:1638 semapv:UnspecifiedMatching -OMIM:188411 CD1E skos:exactMatch hgnc.symbol:CD1E semapv:UnspecifiedMatching -OMIM:188411 CD1E skos:exactMatch ncbigene:913 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch UMLS:C1420709 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch UMLS:C1842444 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch hgnc.symbol:11764 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch hgnc.symbol:TG semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch ncbigene:7038 semapv:UnspecifiedMatching -OMIM:188540 TSHB skos:exactMatch hgnc.symbol:12372 semapv:UnspecifiedMatching -OMIM:188540 TSHB skos:exactMatch hgnc.symbol:TSHB semapv:UnspecifiedMatching -OMIM:188540 TSHB skos:exactMatch ncbigene:7252 semapv:UnspecifiedMatching -OMIM:188545 TRHR skos:exactMatch hgnc.symbol:12299 semapv:UnspecifiedMatching -OMIM:188545 TRHR skos:exactMatch hgnc.symbol:TRHR semapv:UnspecifiedMatching -OMIM:188545 TRHR skos:exactMatch ncbigene:7201 semapv:UnspecifiedMatching -OMIM:188595 TEF skos:exactMatch hgnc.symbol:11722 semapv:UnspecifiedMatching -OMIM:188595 TEF skos:exactMatch hgnc.symbol:TEF semapv:UnspecifiedMatching -OMIM:188595 TEF skos:exactMatch ncbigene:7008 semapv:UnspecifiedMatching -OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:11821 semapv:UnspecifiedMatching -OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:TIMP2 semapv:UnspecifiedMatching -OMIM:188825 TIMP2 skos:exactMatch ncbigene:7077 semapv:UnspecifiedMatching -OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:11822 semapv:UnspecifiedMatching -OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:TIMP3 semapv:UnspecifiedMatching -OMIM:188826 TIMP3 skos:exactMatch ncbigene:7078 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C0406810 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1418907 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1864846 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2607929 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016392 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016393 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016394 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:9388 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:PRKAR1A semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch ncbigene:5573 semapv:UnspecifiedMatching -OMIM:188840 TTN skos:exactMatch hgnc.symbol:12403 semapv:UnspecifiedMatching -OMIM:188840 TTN skos:exactMatch hgnc.symbol:TTN semapv:UnspecifiedMatching -OMIM:188840 TTN skos:exactMatch ncbigene:7273 semapv:UnspecifiedMatching -OMIM:188855 GNLY skos:exactMatch hgnc.symbol:4414 semapv:UnspecifiedMatching -OMIM:188855 GNLY skos:exactMatch hgnc.symbol:GNLY semapv:UnspecifiedMatching -OMIM:188855 GNLY skos:exactMatch ncbigene:10578 semapv:UnspecifiedMatching -OMIM:188860 MAL skos:exactMatch hgnc.symbol:6817 semapv:UnspecifiedMatching -OMIM:188860 MAL skos:exactMatch hgnc.symbol:MAL semapv:UnspecifiedMatching -OMIM:188860 MAL skos:exactMatch ncbigene:4118 semapv:UnspecifiedMatching -OMIM:189880 TRN-GTT2-7 skos:exactMatch UMLS:C5239945 semapv:UnspecifiedMatching -OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:54714 semapv:UnspecifiedMatching -OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:TRN-GTT2-7 semapv:UnspecifiedMatching -OMIM:189880 TRN-GTT2-7 skos:exactMatch ncbigene:7214 semapv:UnspecifiedMatching -OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:11748 semapv:UnspecifiedMatching -OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:TFCP2 semapv:UnspecifiedMatching -OMIM:189889 TFCP2 skos:exactMatch ncbigene:7024 semapv:UnspecifiedMatching -OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:1317 semapv:UnspecifiedMatching -OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:GCFC2 semapv:UnspecifiedMatching -OMIM:189901 TCF9 skos:exactMatch ncbigene:6936 semapv:UnspecifiedMatching -OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:11749 semapv:UnspecifiedMatching -OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:TFDP1 semapv:UnspecifiedMatching -OMIM:189902 TFDP1 skos:exactMatch ncbigene:7027 semapv:UnspecifiedMatching -OMIM:189903 NFYA skos:exactMatch hgnc.symbol:7804 semapv:UnspecifiedMatching -OMIM:189903 NFYA skos:exactMatch hgnc.symbol:NFYA semapv:UnspecifiedMatching -OMIM:189903 NFYA skos:exactMatch ncbigene:4800 semapv:UnspecifiedMatching -OMIM:189904 NFYB skos:exactMatch hgnc.symbol:7805 semapv:UnspecifiedMatching -OMIM:189904 NFYB skos:exactMatch hgnc.symbol:NFYB semapv:UnspecifiedMatching -OMIM:189904 NFYB skos:exactMatch ncbigene:4801 semapv:UnspecifiedMatching -OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:11652 semapv:UnspecifiedMatching -OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:TCN1 semapv:UnspecifiedMatching -OMIM:189905 TCN1 skos:exactMatch ncbigene:6947 semapv:UnspecifiedMatching -OMIM:189906 SP1 skos:exactMatch hgnc.symbol:11205 semapv:UnspecifiedMatching -OMIM:189906 SP1 skos:exactMatch hgnc.symbol:SP1 semapv:UnspecifiedMatching -OMIM:189906 SP1 skos:exactMatch ncbigene:6667 semapv:UnspecifiedMatching -OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:11630 semapv:UnspecifiedMatching -OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:HNF1B semapv:UnspecifiedMatching -OMIM:189907 HNF1B skos:exactMatch ncbigene:6928 semapv:UnspecifiedMatching -OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:11639 semapv:UnspecifiedMatching -OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:TCF7 semapv:UnspecifiedMatching -OMIM:189908 TCF7 skos:exactMatch ncbigene:6932 semapv:UnspecifiedMatching -OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:11642 semapv:UnspecifiedMatching -OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:ZEB1 semapv:UnspecifiedMatching -OMIM:189909 ZEB1 skos:exactMatch ncbigene:6935 semapv:UnspecifiedMatching -OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:16293 semapv:UnspecifiedMatching -OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:TRS-AGA2-3 semapv:UnspecifiedMatching -OMIM:189910 TRS-AGA2-3 skos:exactMatch ncbigene:23437 semapv:UnspecifiedMatching -OMIM:189911 TRG-CCC1-1 skos:exactMatch UMLS:C3891582 semapv:UnspecifiedMatching -OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:38580 semapv:UnspecifiedMatching -OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:TRG-CCC1-1 semapv:UnspecifiedMatching -OMIM:189911 TRG-CCC1-1 skos:exactMatch ncbigene:7195 semapv:UnspecifiedMatching -OMIM:189912 TRP-TGG3-1 skos:exactMatch UMLS:C1421167 semapv:UnspecifiedMatching -OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:12332 semapv:UnspecifiedMatching -OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:TRP-TGG3-1 semapv:UnspecifiedMatching -OMIM:189912 TRP-TGG3-1 skos:exactMatch ncbigene:7219 semapv:UnspecifiedMatching -OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:12350 semapv:UnspecifiedMatching -OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:TRT-TGT6-1 semapv:UnspecifiedMatching -OMIM:189913 TRT-TGT6-1 skos:exactMatch ncbigene:7236 semapv:UnspecifiedMatching -OMIM:189918 TRK-TTT3-5 skos:exactMatch UMLS:C1421153 semapv:UnspecifiedMatching -OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:12314 semapv:UnspecifiedMatching -OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:TRK-TTT3-5 semapv:UnspecifiedMatching -OMIM:189918 TRK-TTT3-5 skos:exactMatch ncbigene:7206 semapv:UnspecifiedMatching -OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:12341 semapv:UnspecifiedMatching -OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:TRQ-CTG1-5 semapv:UnspecifiedMatching -OMIM:189919 TRQ-CTG1-5 skos:exactMatch ncbigene:7228 semapv:UnspecifiedMatching -OMIM:189920 TRL-TAG1-1 skos:exactMatch UMLS:C1421155 semapv:UnspecifiedMatching -OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:12316 semapv:UnspecifiedMatching -OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:TRL-TAG1-1 semapv:UnspecifiedMatching -OMIM:189920 TRL-TAG1-1 skos:exactMatch ncbigene:7208 semapv:UnspecifiedMatching -OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:12353 semapv:UnspecifiedMatching -OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:TRV-AAC1-4 semapv:UnspecifiedMatching -OMIM:189921 TRV-AAC1-4 skos:exactMatch ncbigene:7239 semapv:UnspecifiedMatching -OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:12342 semapv:UnspecifiedMatching -OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:TRQ-TTG1-1 semapv:UnspecifiedMatching -OMIM:189923 TRQ-TTG1-1 skos:exactMatch ncbigene:7229 semapv:UnspecifiedMatching -OMIM:189930 TRP-AGG2-5 skos:exactMatch UMLS:C1421165 semapv:UnspecifiedMatching -OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:12330 semapv:UnspecifiedMatching -OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:TRP-AGG2-5 semapv:UnspecifiedMatching -OMIM:189930 TRP-AGG2-5 skos:exactMatch ncbigene:7217 semapv:UnspecifiedMatching -OMIM:189931 TRP-AGG2-6 skos:exactMatch UMLS:C1421166 semapv:UnspecifiedMatching -OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:12331 semapv:UnspecifiedMatching -OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:TRP-AGG2-6 semapv:UnspecifiedMatching -OMIM:189931 TRP-AGG2-6 skos:exactMatch ncbigene:7218 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch UMLS:C1421154 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:12315 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:TRL-AAG2-3 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch ncbigene:7207 semapv:UnspecifiedMatching -OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:12351 semapv:UnspecifiedMatching -OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:TRT-TGT3-1 semapv:UnspecifiedMatching -OMIM:189933 TRT-TGT3-1 skos:exactMatch ncbigene:7237 semapv:UnspecifiedMatching -OMIM:189940 TPR skos:exactMatch hgnc.symbol:12017 semapv:UnspecifiedMatching -OMIM:189940 TPR skos:exactMatch hgnc.symbol:TPR semapv:UnspecifiedMatching -OMIM:189940 TPR skos:exactMatch ncbigene:7175 semapv:UnspecifiedMatching -OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:4650 semapv:UnspecifiedMatching -OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:GTF2E1 semapv:UnspecifiedMatching -OMIM:189962 GTF2E1 skos:exactMatch ncbigene:2960 semapv:UnspecifiedMatching -OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:4648 semapv:UnspecifiedMatching -OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:GTF2B semapv:UnspecifiedMatching -OMIM:189963 GTF2B skos:exactMatch ncbigene:2959 semapv:UnspecifiedMatching -OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:4651 semapv:UnspecifiedMatching -OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:GTF2E2 semapv:UnspecifiedMatching -OMIM:189964 GTF2E2 skos:exactMatch ncbigene:2961 semapv:UnspecifiedMatching -OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:1834 semapv:UnspecifiedMatching -OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:CEBPB semapv:UnspecifiedMatching -OMIM:189965 CEBPB skos:exactMatch ncbigene:1051 semapv:UnspecifiedMatching -OMIM:189967 TEAD1 skos:exactMatch UMLS:C1420679 semapv:UnspecifiedMatching -OMIM:189967 TEAD1 skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching -OMIM:189967 TEAD1 skos:exactMatch hgnc.symbol:11714 semapv:UnspecifiedMatching -OMIM:189967 TEAD1 skos:exactMatch hgnc.symbol:TEAD1 semapv:UnspecifiedMatching -OMIM:189967 TEAD1 skos:exactMatch ncbigene:7003 semapv:UnspecifiedMatching -OMIM:189968 GTF2F1 skos:exactMatch hgnc.symbol:4652 semapv:UnspecifiedMatching -OMIM:189968 GTF2F1 skos:exactMatch hgnc.symbol:GTF2F1 semapv:UnspecifiedMatching -OMIM:189968 GTF2F1 skos:exactMatch ncbigene:2962 semapv:UnspecifiedMatching -OMIM:189969 GTF2F2 skos:exactMatch hgnc.symbol:4653 semapv:UnspecifiedMatching -OMIM:189969 GTF2F2 skos:exactMatch hgnc.symbol:GTF2F2 semapv:UnspecifiedMatching -OMIM:189969 GTF2F2 skos:exactMatch ncbigene:2963 semapv:UnspecifiedMatching -OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:4411 semapv:UnspecifiedMatching -OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:GNGT1 semapv:UnspecifiedMatching -OMIM:189970 GNGT1 skos:exactMatch ncbigene:2792 semapv:UnspecifiedMatching -OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:3113 semapv:UnspecifiedMatching -OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:E2F1 semapv:UnspecifiedMatching -OMIM:189971 E2F1 skos:exactMatch ncbigene:1869 semapv:UnspecifiedMatching -OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:4655 semapv:UnspecifiedMatching -OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:GTF2H1 semapv:UnspecifiedMatching -OMIM:189972 GTF2H1 skos:exactMatch ncbigene:2965 semapv:UnspecifiedMatching -OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:3316 semapv:UnspecifiedMatching -OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:ELF1 semapv:UnspecifiedMatching -OMIM:189973 ELF1 skos:exactMatch ncbigene:1997 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch UMLS:C1412097 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch UMLS:C4016396 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch UMLS:C5193173 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch hgnc.symbol:76 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch hgnc.symbol:ABL1 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch ncbigene:25 semapv:UnspecifiedMatching -OMIM:189990 MYB skos:exactMatch hgnc.symbol:7545 semapv:UnspecifiedMatching -OMIM:189990 MYB skos:exactMatch hgnc.symbol:MYB semapv:UnspecifiedMatching -OMIM:189990 MYB skos:exactMatch ncbigene:4602 semapv:UnspecifiedMatching -OMIM:190000 TF skos:exactMatch hgnc.symbol:11740 semapv:UnspecifiedMatching -OMIM:190000 TF skos:exactMatch hgnc.symbol:TF semapv:UnspecifiedMatching -OMIM:190000 TF skos:exactMatch ncbigene:7018 semapv:UnspecifiedMatching -OMIM:190010 TFRC skos:exactMatch hgnc.symbol:11763 semapv:UnspecifiedMatching -OMIM:190010 TFRC skos:exactMatch hgnc.symbol:TFRC semapv:UnspecifiedMatching -OMIM:190010 TFRC skos:exactMatch ncbigene:7037 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C0079471 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C3277679 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4016398 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4017653 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4225656 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4225657 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch UMLS:C4479707 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch hgnc.symbol:5173 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch hgnc.symbol:HRAS semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch ncbigene:3265 semapv:UnspecifiedMatching -OMIM:190030 FES skos:exactMatch hgnc.symbol:3657 semapv:UnspecifiedMatching -OMIM:190030 FES skos:exactMatch hgnc.symbol:FES semapv:UnspecifiedMatching -OMIM:190030 FES skos:exactMatch ncbigene:2242 semapv:UnspecifiedMatching -OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:8800 semapv:UnspecifiedMatching -OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:PDGFB semapv:UnspecifiedMatching -OMIM:190040 PDGFB skos:exactMatch ncbigene:5155 semapv:UnspecifiedMatching -OMIM:190060 MOS skos:exactMatch hgnc.symbol:7199 semapv:UnspecifiedMatching -OMIM:190060 MOS skos:exactMatch hgnc.symbol:MOS semapv:UnspecifiedMatching -OMIM:190060 MOS skos:exactMatch ncbigene:4342 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1537502 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016400 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016401 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016402 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016403 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016404 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4016405 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C4693979 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch UMLS:C5193174 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch hgnc.symbol:6407 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch hgnc.symbol:KRAS semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch ncbigene:3845 semapv:UnspecifiedMatching -OMIM:190080 MYC skos:exactMatch UMLS:C0086661 semapv:UnspecifiedMatching -OMIM:190080 MYC skos:exactMatch UMLS:C5193175 semapv:UnspecifiedMatching -OMIM:190080 MYC skos:exactMatch hgnc.symbol:7553 semapv:UnspecifiedMatching -OMIM:190080 MYC skos:exactMatch hgnc.symbol:MYC semapv:UnspecifiedMatching -OMIM:190080 MYC skos:exactMatch ncbigene:4609 semapv:UnspecifiedMatching -OMIM:190090 SRC skos:exactMatch hgnc.symbol:11283 semapv:UnspecifiedMatching -OMIM:190090 SRC skos:exactMatch hgnc.symbol:SRC semapv:UnspecifiedMatching -OMIM:190090 SRC skos:exactMatch ncbigene:6714 semapv:UnspecifiedMatching -OMIM:190120 THRA skos:exactMatch hgnc.symbol:11796 semapv:UnspecifiedMatching -OMIM:190120 THRA skos:exactMatch hgnc.symbol:THRA semapv:UnspecifiedMatching -OMIM:190120 THRA skos:exactMatch ncbigene:7067 semapv:UnspecifiedMatching -OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:3431 semapv:UnspecifiedMatching -OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:ERBB3 semapv:UnspecifiedMatching -OMIM:190151 ERBB3 skos:exactMatch ncbigene:2065 semapv:UnspecifiedMatching -OMIM:190160 THRB skos:exactMatch hgnc.symbol:11799 semapv:UnspecifiedMatching -OMIM:190160 THRB skos:exactMatch hgnc.symbol:THRB semapv:UnspecifiedMatching -OMIM:190160 THRB skos:exactMatch ncbigene:7068 semapv:UnspecifiedMatching -OMIM:190170 TGFA skos:exactMatch UMLS:C1336620 semapv:UnspecifiedMatching -OMIM:190170 TGFA skos:exactMatch hgnc.symbol:11765 semapv:UnspecifiedMatching -OMIM:190170 TGFA skos:exactMatch hgnc.symbol:TGFA semapv:UnspecifiedMatching -OMIM:190170 TGFA skos:exactMatch ncbigene:7039 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C0011989 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C1366557 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C1968974 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C4016407 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch UMLS:C4748708 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:11766 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:TGFB1 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch ncbigene:7040 semapv:UnspecifiedMatching -OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:11772 semapv:UnspecifiedMatching -OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:TGFBR1 semapv:UnspecifiedMatching -OMIM:190181 TGFBR1 skos:exactMatch ncbigene:7046 semapv:UnspecifiedMatching -OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:11773 semapv:UnspecifiedMatching -OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:TGFBR2 semapv:UnspecifiedMatching -OMIM:190182 TGFBR2 skos:exactMatch ncbigene:7048 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch UMLS:C1420713 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch UMLS:C4016409 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:11777 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:TGM1 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch ncbigene:7051 semapv:UnspecifiedMatching -OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:11778 semapv:UnspecifiedMatching -OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:TGM2 semapv:UnspecifiedMatching -OMIM:190196 TGM2 skos:exactMatch ncbigene:7052 semapv:UnspecifiedMatching -OMIM:190197 CNTN2 skos:exactMatch UMLS:C1413560 semapv:UnspecifiedMatching -OMIM:190197 CNTN2 skos:exactMatch UMLS:C3809374 semapv:UnspecifiedMatching -OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:2172 semapv:UnspecifiedMatching -OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:CNTN2 semapv:UnspecifiedMatching -OMIM:190197 CNTN2 skos:exactMatch ncbigene:6900 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch UMLS:C1334889 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch UMLS:C3887892 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch UMLS:C4014970 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:7881 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:NOTCH1 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch ncbigene:4851 semapv:UnspecifiedMatching -OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:11768 semapv:UnspecifiedMatching -OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:TGFB2 semapv:UnspecifiedMatching -OMIM:190220 TGFB2 skos:exactMatch ncbigene:7042 semapv:UnspecifiedMatching -OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:11769 semapv:UnspecifiedMatching -OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:TGFB3 semapv:UnspecifiedMatching -OMIM:190230 TGFB3 skos:exactMatch ncbigene:7043 semapv:UnspecifiedMatching -OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:11951 semapv:UnspecifiedMatching -OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:TNP1 semapv:UnspecifiedMatching -OMIM:190231 TNP1 skos:exactMatch ncbigene:7141 semapv:UnspecifiedMatching -OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:11952 semapv:UnspecifiedMatching -OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:TNP2 semapv:UnspecifiedMatching -OMIM:190232 TNP2 skos:exactMatch ncbigene:7142 semapv:UnspecifiedMatching -OMIM:190300 tremor, hereditary essential, 1 skos:exactMatch UMLS:C1860861 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch UMLS:C1420150 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch UMLS:C2746066 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:10979 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:SLC25A1 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch ncbigene:6576 semapv:UnspecifiedMatching -OMIM:190330 trichomegaly skos:exactMatch Orphanet:411788 semapv:UnspecifiedMatching -OMIM:190330 trichomegaly skos:exactMatch UMLS:C0854699 semapv:UnspecifiedMatching -OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching -OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching -OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching -OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching -OMIM:190370 TCHH skos:exactMatch hgnc.symbol:11791 semapv:UnspecifiedMatching -OMIM:190370 TCHH skos:exactMatch hgnc.symbol:TCHH semapv:UnspecifiedMatching -OMIM:190370 TCHH skos:exactMatch ncbigene:7062 semapv:UnspecifiedMatching -OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:12009 semapv:UnspecifiedMatching -OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:TPI1 semapv:UnspecifiedMatching -OMIM:190450 TPI1 skos:exactMatch ncbigene:7167 semapv:UnspecifiedMatching -OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:12016 semapv:UnspecifiedMatching -OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:TPP2 semapv:UnspecifiedMatching -OMIM:190470 TPP2 skos:exactMatch ncbigene:7174 semapv:UnspecifiedMatching -OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:12862 semapv:UnspecifiedMatching -OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:ZFP36 semapv:UnspecifiedMatching -OMIM:190700 ZFP36 skos:exactMatch ncbigene:7538 semapv:UnspecifiedMatching -OMIM:190920 TPBG skos:exactMatch hgnc.symbol:12004 semapv:UnspecifiedMatching -OMIM:190920 TPBG skos:exactMatch hgnc.symbol:TPBG semapv:UnspecifiedMatching -OMIM:190920 TPBG skos:exactMatch ncbigene:7162 semapv:UnspecifiedMatching -OMIM:190930 TMOD1 skos:exactMatch hgnc.symbol:11871 semapv:UnspecifiedMatching -OMIM:190930 TMOD1 skos:exactMatch hgnc.symbol:TMOD1 semapv:UnspecifiedMatching -OMIM:190930 TMOD1 skos:exactMatch ncbigene:7111 semapv:UnspecifiedMatching -OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:12011 semapv:UnspecifiedMatching -OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:TPM2 semapv:UnspecifiedMatching -OMIM:190990 TPM2 skos:exactMatch ncbigene:7169 semapv:UnspecifiedMatching -OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:12010 semapv:UnspecifiedMatching -OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:TPM1 semapv:UnspecifiedMatching -OMIM:191010 TPM1 skos:exactMatch ncbigene:7168 semapv:UnspecifiedMatching -OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:12012 semapv:UnspecifiedMatching -OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:TPM3 semapv:UnspecifiedMatching -OMIM:191030 TPM3 skos:exactMatch ncbigene:7170 semapv:UnspecifiedMatching -OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:11944 semapv:UnspecifiedMatching -OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:TNNC2 semapv:UnspecifiedMatching -OMIM:191039 TNNC2 skos:exactMatch ncbigene:7125 semapv:UnspecifiedMatching -OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:11943 semapv:UnspecifiedMatching -OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:TNNC1 semapv:UnspecifiedMatching -OMIM:191040 TNNC1 skos:exactMatch ncbigene:7134 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch UMLS:C1420827 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:11948 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:TNNT1 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch ncbigene:7138 semapv:UnspecifiedMatching -OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:11945 semapv:UnspecifiedMatching -OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:TNNI1 semapv:UnspecifiedMatching -OMIM:191042 TNNI1 skos:exactMatch ncbigene:7135 semapv:UnspecifiedMatching -OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:11946 semapv:UnspecifiedMatching -OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:TNNI2 semapv:UnspecifiedMatching -OMIM:191043 TNNI2 skos:exactMatch ncbigene:7136 semapv:UnspecifiedMatching -OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:11947 semapv:UnspecifiedMatching -OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:TNNI3 semapv:UnspecifiedMatching -OMIM:191044 TNNI3 skos:exactMatch ncbigene:7137 semapv:UnspecifiedMatching -OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:11949 semapv:UnspecifiedMatching -OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:TNNT2 semapv:UnspecifiedMatching -OMIM:191045 TNNT2 skos:exactMatch ncbigene:7139 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch UMLS:C1421476 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:12729 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:WARS1 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch ncbigene:7453 semapv:UnspecifiedMatching -OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:12008 semapv:UnspecifiedMatching -OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:TPH1 semapv:UnspecifiedMatching -OMIM:191060 TPH1 skos:exactMatch ncbigene:7166 semapv:UnspecifiedMatching -OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:11708 semapv:UnspecifiedMatching -OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:TDO2 semapv:UnspecifiedMatching -OMIM:191070 TDO2 skos:exactMatch ncbigene:6999 semapv:UnspecifiedMatching -OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:12019 semapv:UnspecifiedMatching -OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:TPSAB1 semapv:UnspecifiedMatching -OMIM:191080 TPSAB1 skos:exactMatch ncbigene:7177 semapv:UnspecifiedMatching -OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:14120 semapv:UnspecifiedMatching -OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:TPSB2 semapv:UnspecifiedMatching -OMIM:191081 TPSB2 skos:exactMatch ncbigene:64499 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch UMLS:C0694895 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch UMLS:C1847648 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch UMLS:C1860707 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:12363 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:TSC2 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch ncbigene:7249 semapv:UnspecifiedMatching -OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:12407 semapv:UnspecifiedMatching -OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:TUBA4A semapv:UnspecifiedMatching -OMIM:191110 TUBA4A skos:exactMatch ncbigene:7277 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch UMLS:C1421231 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch UMLS:C4014283 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch UMLS:C4551592 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch hgnc.symbol:20778 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch hgnc.symbol:TUBB semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch ncbigene:203068 semapv:UnspecifiedMatching -OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:12417 semapv:UnspecifiedMatching -OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:TUBG1 semapv:UnspecifiedMatching -OMIM:191135 TUBG1 skos:exactMatch ncbigene:7283 semapv:UnspecifiedMatching -OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:11853 semapv:UnspecifiedMatching -OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:TM4SF1 semapv:UnspecifiedMatching -OMIM:191155 TM4SF1 skos:exactMatch ncbigene:4071 semapv:UnspecifiedMatching -OMIM:191160 TNF skos:exactMatch hgnc.symbol:11892 semapv:UnspecifiedMatching -OMIM:191160 TNF skos:exactMatch hgnc.symbol:TNF semapv:UnspecifiedMatching -OMIM:191160 TNF skos:exactMatch ncbigene:7124 semapv:UnspecifiedMatching -OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:11894 semapv:UnspecifiedMatching -OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:TNFAIP1 semapv:UnspecifiedMatching -OMIM:191161 TNFAIP1 skos:exactMatch ncbigene:7126 semapv:UnspecifiedMatching -OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:11896 semapv:UnspecifiedMatching -OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:TNFAIP3 semapv:UnspecifiedMatching -OMIM:191163 TNFAIP3 skos:exactMatch ncbigene:7128 semapv:UnspecifiedMatching -OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:3221 semapv:UnspecifiedMatching -OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:EFNA1 semapv:UnspecifiedMatching -OMIM:191164 EFNA1 skos:exactMatch ncbigene:1942 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0024305 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0029463 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0079419 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0205770 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0206624 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C0431109 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1835398 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1851161 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1859973 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C2674060 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C2675080 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C3553606 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4016419 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4748488 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch UMLS:C4749067 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch hgnc.symbol:11998 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch hgnc.symbol:TP53 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch ncbigene:7157 semapv:UnspecifiedMatching -OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:12028 semapv:UnspecifiedMatching -OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:HSP90B1 semapv:UnspecifiedMatching -OMIM:191175 HSP90B1 skos:exactMatch ncbigene:7184 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1363984 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:11916 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:TNFRSF1A semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch ncbigene:7132 semapv:UnspecifiedMatching -OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:11917 semapv:UnspecifiedMatching -OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:TNFRSF1B semapv:UnspecifiedMatching -OMIM:191191 TNFRSF1B skos:exactMatch ncbigene:7133 semapv:UnspecifiedMatching -OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:6860 semapv:UnspecifiedMatching -OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:MAP3K8 semapv:UnspecifiedMatching -OMIM:191195 MAP3K8 skos:exactMatch ncbigene:1326 semapv:UnspecifiedMatching -OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:12443 semapv:UnspecifiedMatching -OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:TYRL semapv:UnspecifiedMatching -OMIM:191275 DCT skos:exactMatch hgnc.symbol:2709 semapv:UnspecifiedMatching -OMIM:191275 DCT skos:exactMatch hgnc.symbol:DCT semapv:UnspecifiedMatching -OMIM:191275 DCT skos:exactMatch ncbigene:1638 semapv:UnspecifiedMatching -OMIM:191290 TH skos:exactMatch hgnc.symbol:11782 semapv:UnspecifiedMatching -OMIM:191290 TH skos:exactMatch hgnc.symbol:TH semapv:UnspecifiedMatching -OMIM:191290 TH skos:exactMatch ncbigene:7054 semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch UMLS:C1332419 semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch hgnc.symbol:1057 semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch hgnc.symbol:BLK semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch ncbigene:640 semapv:UnspecifiedMatching -OMIM:191306 KDR skos:exactMatch hgnc.symbol:6307 semapv:UnspecifiedMatching -OMIM:191306 KDR skos:exactMatch hgnc.symbol:KDR semapv:UnspecifiedMatching -OMIM:191306 KDR skos:exactMatch ncbigene:3791 semapv:UnspecifiedMatching -OMIM:191311 DDR2 skos:exactMatch hgnc.symbol:2731 semapv:UnspecifiedMatching -OMIM:191311 DDR2 skos:exactMatch hgnc.symbol:DDR2 semapv:UnspecifiedMatching -OMIM:191311 DDR2 skos:exactMatch ncbigene:4921 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch UMLS:C0020074 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch UMLS:C0919487 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch UMLS:C1833921 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch hgnc.symbol:8031 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch hgnc.symbol:NTRK1 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch ncbigene:4914 semapv:UnspecifiedMatching -OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:8033 semapv:UnspecifiedMatching -OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:NTRK3 semapv:UnspecifiedMatching -OMIM:191316 NTRK3 skos:exactMatch ncbigene:4916 semapv:UnspecifiedMatching -OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:12453 semapv:UnspecifiedMatching -OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:U2AF1 semapv:UnspecifiedMatching -OMIM:191317 U2AF1 skos:exactMatch ncbigene:7307 semapv:UnspecifiedMatching -OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:23156 semapv:UnspecifiedMatching -OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:U2AF2 semapv:UnspecifiedMatching -OMIM:191318 U2AF2 skos:exactMatch ncbigene:11338 semapv:UnspecifiedMatching -OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:12458 semapv:UnspecifiedMatching -OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:UBA52 semapv:UnspecifiedMatching -OMIM:191321 UBA52 skos:exactMatch ncbigene:7311 semapv:UnspecifiedMatching -OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:12471 semapv:UnspecifiedMatching -OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:UBA7 semapv:UnspecifiedMatching -OMIM:191325 UBA7 skos:exactMatch ncbigene:7318 semapv:UnspecifiedMatching -OMIM:191327 UQCRFS1 skos:exactMatch UMLS:C1421371 semapv:UnspecifiedMatching -OMIM:191327 UQCRFS1 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching -OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:12587 semapv:UnspecifiedMatching -OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:UQCRFS1 semapv:UnspecifiedMatching -OMIM:191327 UQCRFS1 skos:exactMatch ncbigene:7386 semapv:UnspecifiedMatching -OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:12585 semapv:UnspecifiedMatching -OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:UQCRC1 semapv:UnspecifiedMatching -OMIM:191328 UQCRC1 skos:exactMatch ncbigene:7384 semapv:UnspecifiedMatching -OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:12586 semapv:UnspecifiedMatching -OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:UQCRC2 semapv:UnspecifiedMatching -OMIM:191329 UQCRC2 skos:exactMatch ncbigene:7385 semapv:UnspecifiedMatching -OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:12582 semapv:UnspecifiedMatching -OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:UQCRB semapv:UnspecifiedMatching -OMIM:191330 UQCRB skos:exactMatch ncbigene:7381 semapv:UnspecifiedMatching -OMIM:191339 UBB skos:exactMatch hgnc.symbol:12463 semapv:UnspecifiedMatching -OMIM:191339 UBB skos:exactMatch hgnc.symbol:UBB semapv:UnspecifiedMatching -OMIM:191339 UBB skos:exactMatch ncbigene:7314 semapv:UnspecifiedMatching -OMIM:191340 UBC skos:exactMatch hgnc.symbol:12468 semapv:UnspecifiedMatching -OMIM:191340 UBC skos:exactMatch hgnc.symbol:UBC semapv:UnspecifiedMatching -OMIM:191340 UBC skos:exactMatch ncbigene:7316 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch UMLS:C1421309 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch UMLS:C3150899 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch UMLS:C3809665 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:12513 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:UCHL1 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch ncbigene:7345 semapv:UnspecifiedMatching -OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:10417 semapv:UnspecifiedMatching -OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:RPS27A semapv:UnspecifiedMatching -OMIM:191343 RPS27A skos:exactMatch ncbigene:6233 semapv:UnspecifiedMatching -OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:2995 semapv:UnspecifiedMatching -OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:DPAGT1 semapv:UnspecifiedMatching -OMIM:191350 DPAGT1 skos:exactMatch ncbigene:1798 semapv:UnspecifiedMatching -OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:29905 semapv:UnspecifiedMatching -OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:CSDE1 semapv:UnspecifiedMatching -OMIM:191510 CSDE1 skos:exactMatch ncbigene:7812 semapv:UnspecifiedMatching -OMIM:191523 USF1 skos:exactMatch hgnc.symbol:12593 semapv:UnspecifiedMatching -OMIM:191523 USF1 skos:exactMatch hgnc.symbol:USF1 semapv:UnspecifiedMatching -OMIM:191523 USF1 skos:exactMatch ncbigene:7391 semapv:UnspecifiedMatching -OMIM:191525 UNG skos:exactMatch hgnc.symbol:12572 semapv:UnspecifiedMatching -OMIM:191525 UNG skos:exactMatch hgnc.symbol:UNG semapv:UnspecifiedMatching -OMIM:191525 UNG skos:exactMatch ncbigene:7374 semapv:UnspecifiedMatching -OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:12575 semapv:UnspecifiedMatching -OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:UOX semapv:UnspecifiedMatching -OMIM:191710 CMPK1 skos:exactMatch hgnc.symbol:18170 semapv:UnspecifiedMatching -OMIM:191710 CMPK1 skos:exactMatch hgnc.symbol:CMPK1 semapv:UnspecifiedMatching -OMIM:191710 CMPK1 skos:exactMatch ncbigene:51727 semapv:UnspecifiedMatching -OMIM:191720 NT5C skos:exactMatch hgnc.symbol:17144 semapv:UnspecifiedMatching -OMIM:191720 NT5C skos:exactMatch hgnc.symbol:NT5C semapv:UnspecifiedMatching -OMIM:191720 NT5C skos:exactMatch ncbigene:30833 semapv:UnspecifiedMatching -OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:12576 semapv:UnspecifiedMatching -OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:UPP1 semapv:UnspecifiedMatching -OMIM:191730 UPP1 skos:exactMatch ncbigene:7378 semapv:UnspecifiedMatching -OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:12530 semapv:UnspecifiedMatching -OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:UGT1A1 semapv:UnspecifiedMatching -OMIM:191740 UGT1A1 skos:exactMatch ncbigene:54658 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch UMLS:C1421321 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:12527 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:UGP2 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch ncbigene:7360 semapv:UnspecifiedMatching -OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C0403645 semapv:UnspecifiedMatching -OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching -OMIM:191840 PLAU skos:exactMatch hgnc.symbol:9052 semapv:UnspecifiedMatching -OMIM:191840 PLAU skos:exactMatch hgnc.symbol:PLAU semapv:UnspecifiedMatching -OMIM:191840 PLAU skos:exactMatch ncbigene:5328 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch UMLS:C1421351 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch UMLS:C1835934 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch UMLS:C1859040 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch UMLS:C4551496 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch hgnc.symbol:12559 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch hgnc.symbol:UMOD semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch ncbigene:7369 semapv:UnspecifiedMatching -OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:12523 semapv:UnspecifiedMatching -OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:SCGB1A1 semapv:UnspecifiedMatching -OMIM:192020 SCGB1A1 skos:exactMatch ncbigene:7356 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C0694872 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C1708349 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C3469524 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C3549742 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C4016426 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C4016427 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C4016428 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch UMLS:C4551988 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:1748 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:CDH1 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch ncbigene:999 semapv:UnspecifiedMatching -OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:865 semapv:UnspecifiedMatching -OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:ATP6V0A1 semapv:UnspecifiedMatching -OMIM:192130 ATP6V0A1 skos:exactMatch ncbigene:535 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C1412673 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:853 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:ATP6V1B1 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch ncbigene:525 semapv:UnspecifiedMatching -OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:12651 semapv:UnspecifiedMatching -OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:VARS1 semapv:UnspecifiedMatching -OMIM:192150 VARS1 skos:exactMatch ncbigene:7407 semapv:UnspecifiedMatching -OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:12663 semapv:UnspecifiedMatching -OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:VCAM1 semapv:UnspecifiedMatching -OMIM:192225 VCAM1 skos:exactMatch ncbigene:7412 semapv:UnspecifiedMatching -OMIM:192240 VEGFA skos:exactMatch hgnc.symbol:12680 semapv:UnspecifiedMatching -OMIM:192240 VEGFA skos:exactMatch hgnc.symbol:VEGFA semapv:UnspecifiedMatching -OMIM:192240 VEGFA skos:exactMatch ncbigene:7422 semapv:UnspecifiedMatching -OMIM:192320 VIP skos:exactMatch hgnc.symbol:12693 semapv:UnspecifiedMatching -OMIM:192320 VIP skos:exactMatch hgnc.symbol:VIP semapv:UnspecifiedMatching -OMIM:192320 VIP skos:exactMatch ncbigene:7432 semapv:UnspecifiedMatching -OMIM:192321 VIPR1 skos:exactMatch UMLS:C1336936 semapv:UnspecifiedMatching -OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:12694 semapv:UnspecifiedMatching -OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:VIPR1 semapv:UnspecifiedMatching -OMIM:192321 VIPR1 skos:exactMatch ncbigene:7433 semapv:UnspecifiedMatching -OMIM:192340 AVP skos:exactMatch hgnc.symbol:894 semapv:UnspecifiedMatching -OMIM:192340 AVP skos:exactMatch hgnc.symbol:AVP semapv:UnspecifiedMatching -OMIM:192340 AVP skos:exactMatch ncbigene:551 semapv:UnspecifiedMatching -OMIM:192430 velocardiofacial syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching -OMIM:192430 velocardiofacial syndrome skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching -OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch Orphanet:3201 semapv:UnspecifiedMatching -OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch UMLS:C1860471 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C3277700 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C4551647 semapv:UnspecifiedMatching -OMIM:192968 ITGA1 skos:exactMatch UMLS:C1442490 semapv:UnspecifiedMatching -OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:6134 semapv:UnspecifiedMatching -OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:ITGA1 semapv:UnspecifiedMatching -OMIM:192968 ITGA1 skos:exactMatch ncbigene:3672 semapv:UnspecifiedMatching -OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:6137 semapv:UnspecifiedMatching -OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:ITGA2 semapv:UnspecifiedMatching -OMIM:192974 ITGA2 skos:exactMatch ncbigene:3673 semapv:UnspecifiedMatching -OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:6140 semapv:UnspecifiedMatching -OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:ITGA4 semapv:UnspecifiedMatching -OMIM:192975 ITGA4 skos:exactMatch ncbigene:3676 semapv:UnspecifiedMatching -OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:12698 semapv:UnspecifiedMatching -OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:VLDLR semapv:UnspecifiedMatching -OMIM:192977 VLDLR skos:exactMatch ncbigene:7436 semapv:UnspecifiedMatching -OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:10935 semapv:UnspecifiedMatching -OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:SLC18A2 semapv:UnspecifiedMatching -OMIM:193001 SLC18A2 skos:exactMatch ncbigene:6571 semapv:UnspecifiedMatching -OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:10934 semapv:UnspecifiedMatching -OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:SLC18A1 semapv:UnspecifiedMatching -OMIM:193002 SLC18A1 skos:exactMatch ncbigene:6570 semapv:UnspecifiedMatching -OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:12690 semapv:UnspecifiedMatching -OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:VIL1 semapv:UnspecifiedMatching -OMIM:193040 VIL1 skos:exactMatch ncbigene:7429 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch UMLS:C1421451 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch UMLS:C4479666 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch UMLS:C4479667 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch hgnc.symbol:12692 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch hgnc.symbol:VIM semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch ncbigene:7431 semapv:UnspecifiedMatching -OMIM:193065 VCL skos:exactMatch hgnc.symbol:12665 semapv:UnspecifiedMatching -OMIM:193065 VCL skos:exactMatch hgnc.symbol:VCL semapv:UnspecifiedMatching -OMIM:193065 VCL skos:exactMatch ncbigene:7414 semapv:UnspecifiedMatching -OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:3749 semapv:UnspecifiedMatching -OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:FLI1 semapv:UnspecifiedMatching -OMIM:193067 FLI1 skos:exactMatch ncbigene:2313 semapv:UnspecifiedMatching -OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch Orphanet:89937 semapv:UnspecifiedMatching -OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch UMLS:C0342642 semapv:UnspecifiedMatching -OMIM:193190 VTN skos:exactMatch hgnc.symbol:12724 semapv:UnspecifiedMatching -OMIM:193190 VTN skos:exactMatch hgnc.symbol:VTN semapv:UnspecifiedMatching -OMIM:193190 VTN skos:exactMatch ncbigene:7448 semapv:UnspecifiedMatching -OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:6150 semapv:UnspecifiedMatching -OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:ITGAV semapv:UnspecifiedMatching -OMIM:193210 ITGAV skos:exactMatch ncbigene:3685 semapv:UnspecifiedMatching -OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:263347 semapv:UnspecifiedMatching -OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 semapv:UnspecifiedMatching -OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching -OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching -OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:12672 semapv:UnspecifiedMatching -OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:VDAC2 semapv:UnspecifiedMatching -OMIM:193245 VDAC2 skos:exactMatch ncbigene:7417 semapv:UnspecifiedMatching -OMIM:193300 von hippel-lindau syndrome skos:exactMatch Orphanet:892 semapv:UnspecifiedMatching -OMIM:193300 von hippel-lindau syndrome skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching -OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching -OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching -OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch UMLS:C1847800 semapv:UnspecifiedMatching -OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching -OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching -OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching -OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:12761 semapv:UnspecifiedMatching -OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:WEE1 semapv:UnspecifiedMatching -OMIM:193525 WEE1 skos:exactMatch ncbigene:7465 semapv:UnspecifiedMatching -OMIM:194050 williams-beuren syndrome skos:exactMatch Orphanet:904 semapv:UnspecifiedMatching -OMIM:194050 williams-beuren syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching -OMIM:194070 wilms tumor 1 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching -OMIM:194070 wilms tumor 1 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching -OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch UMLS:C0043202 semapv:UnspecifiedMatching -OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:12801 semapv:UnspecifiedMatching -OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:XBP1 semapv:UnspecifiedMatching -OMIM:194355 XBP1 skos:exactMatch ncbigene:7494 semapv:UnspecifiedMatching -OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:12828 semapv:UnspecifiedMatching -OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:XRCC1 semapv:UnspecifiedMatching -OMIM:194360 XRCC1 skos:exactMatch ncbigene:7515 semapv:UnspecifiedMatching -OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:12831 semapv:UnspecifiedMatching -OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:XRCC4 semapv:UnspecifiedMatching -OMIM:194363 XRCC4 skos:exactMatch ncbigene:7518 semapv:UnspecifiedMatching -OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:12833 semapv:UnspecifiedMatching -OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:XRCC5 semapv:UnspecifiedMatching -OMIM:194364 XRCC5 skos:exactMatch ncbigene:7520 semapv:UnspecifiedMatching -OMIM:194450 yeast factor skos:exactMatch UMLS:C1860230 semapv:UnspecifiedMatching -OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:910 semapv:UnspecifiedMatching -OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:AZGP1 semapv:UnspecifiedMatching -OMIM:194460 AZGP1 skos:exactMatch ncbigene:563 semapv:UnspecifiedMatching -OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:12861 semapv:UnspecifiedMatching -OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:ZFP3 semapv:UnspecifiedMatching -OMIM:194480 ZFP3 skos:exactMatch ncbigene:124961 semapv:UnspecifiedMatching -OMIM:194490 zinc finger protein 1 skos:exactMatch UMLS:C1421587 semapv:UnspecifiedMatching -OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:12991 semapv:UnspecifiedMatching -OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:ZNF2 semapv:UnspecifiedMatching -OMIM:194500 ZNF2 skos:exactMatch ncbigene:7549 semapv:UnspecifiedMatching -OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:13089 semapv:UnspecifiedMatching -OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:ZNF3 semapv:UnspecifiedMatching -OMIM:194510 ZNF3 skos:exactMatch ncbigene:7551 semapv:UnspecifiedMatching -OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:13096 semapv:UnspecifiedMatching -OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:ZNF33A semapv:UnspecifiedMatching -OMIM:194521 ZNF33A skos:exactMatch ncbigene:7581 semapv:UnspecifiedMatching -OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:13097 semapv:UnspecifiedMatching -OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:ZNF33B semapv:UnspecifiedMatching -OMIM:194522 ZNF33B skos:exactMatch ncbigene:7582 semapv:UnspecifiedMatching -OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:12969 semapv:UnspecifiedMatching -OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:ZNF18 semapv:UnspecifiedMatching -OMIM:194524 ZNF18 skos:exactMatch ncbigene:7566 semapv:UnspecifiedMatching -OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:12981 semapv:UnspecifiedMatching -OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:ZNF19 semapv:UnspecifiedMatching -OMIM:194525 ZNF19 skos:exactMatch ncbigene:7567 semapv:UnspecifiedMatching -OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:13098 semapv:UnspecifiedMatching -OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:ZNF34 semapv:UnspecifiedMatching -OMIM:194526 ZNF34 skos:exactMatch ncbigene:80778 semapv:UnspecifiedMatching -OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:13023 semapv:UnspecifiedMatching -OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:ZNF23 semapv:UnspecifiedMatching -OMIM:194527 ZNF23 skos:exactMatch ncbigene:7571 semapv:UnspecifiedMatching -OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:13043 semapv:UnspecifiedMatching -OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:ZNF25 semapv:UnspecifiedMatching -OMIM:194528 ZNF25 skos:exactMatch ncbigene:219749 semapv:UnspecifiedMatching -OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:13012 semapv:UnspecifiedMatching -OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:ZNF22 semapv:UnspecifiedMatching -OMIM:194529 ZNF22 skos:exactMatch ncbigene:7570 semapv:UnspecifiedMatching -OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:13139 semapv:UnspecifiedMatching -OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:ZNF7 semapv:UnspecifiedMatching -OMIM:194531 ZNF7 skos:exactMatch ncbigene:7553 semapv:UnspecifiedMatching -OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:13154 semapv:UnspecifiedMatching -OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:ZNF8 semapv:UnspecifiedMatching -OMIM:194532 ZNF8 skos:exactMatch ncbigene:7554 semapv:UnspecifiedMatching -OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:13099 semapv:UnspecifiedMatching -OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:ZNF35 semapv:UnspecifiedMatching -OMIM:194533 ZNF35 skos:exactMatch ncbigene:7584 semapv:UnspecifiedMatching -OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:13032 semapv:UnspecifiedMatching -OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:ZNF24 semapv:UnspecifiedMatching -OMIM:194534 ZNF24 skos:exactMatch ncbigene:7572 semapv:UnspecifiedMatching -OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:13080 semapv:UnspecifiedMatching -OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:ZNF29P semapv:UnspecifiedMatching -OMIM:194535 ZNF29P skos:exactMatch ncbigene:7577 semapv:UnspecifiedMatching -OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:12902 semapv:UnspecifiedMatching -OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:ZNF12 semapv:UnspecifiedMatching -OMIM:194536 ZNF12 skos:exactMatch ncbigene:7559 semapv:UnspecifiedMatching -OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:13053 semapv:UnspecifiedMatching -OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:ZNF26 semapv:UnspecifiedMatching -OMIM:194537 ZNF26 skos:exactMatch ncbigene:7574 semapv:UnspecifiedMatching -OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:12879 semapv:UnspecifiedMatching -OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:ZNF10 semapv:UnspecifiedMatching -OMIM:194538 ZNF10 skos:exactMatch ncbigene:7556 semapv:UnspecifiedMatching -OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:13095 semapv:UnspecifiedMatching -OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:ZNF32 semapv:UnspecifiedMatching -OMIM:194539 ZNF32 skos:exactMatch ncbigene:7580 semapv:UnspecifiedMatching -OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:4920 semapv:UnspecifiedMatching -OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:HIVEP1 semapv:UnspecifiedMatching -OMIM:194540 HIVEP1 skos:exactMatch ncbigene:3096 semapv:UnspecifiedMatching -OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:13112 semapv:UnspecifiedMatching -OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:ZBTB25 semapv:UnspecifiedMatching -OMIM:194541 ZBTB25 skos:exactMatch ncbigene:7597 semapv:UnspecifiedMatching -OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:13110 semapv:UnspecifiedMatching -OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:ZNF44 semapv:UnspecifiedMatching -OMIM:194542 ZNF44 skos:exactMatch ncbigene:51710 semapv:UnspecifiedMatching -OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:13138 semapv:UnspecifiedMatching -OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:ZNF69 semapv:UnspecifiedMatching -OMIM:194543 ZNF69 skos:exactMatch ncbigene:7620 semapv:UnspecifiedMatching -OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:13140 semapv:UnspecifiedMatching -OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:ZNF70 semapv:UnspecifiedMatching -OMIM:194544 ZNF70 skos:exactMatch ncbigene:7621 semapv:UnspecifiedMatching -OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:13141 semapv:UnspecifiedMatching -OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:ZNF71 semapv:UnspecifiedMatching -OMIM:194545 ZNF71 skos:exactMatch ncbigene:58491 semapv:UnspecifiedMatching -OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:13142 semapv:UnspecifiedMatching -OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:ZNF72P semapv:UnspecifiedMatching -OMIM:194546 ZNF72 skos:exactMatch ncbigene:100287084 semapv:UnspecifiedMatching -OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:13143 semapv:UnspecifiedMatching -OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:ZNF73P semapv:UnspecifiedMatching -OMIM:194547 ZNF73 skos:exactMatch ncbigene:105379427 semapv:UnspecifiedMatching -OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:13144 semapv:UnspecifiedMatching -OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:ZNF74 semapv:UnspecifiedMatching -OMIM:194548 ZNF74 skos:exactMatch ncbigene:7625 semapv:UnspecifiedMatching -OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:13149 semapv:UnspecifiedMatching -OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:ZNF76 semapv:UnspecifiedMatching -OMIM:194549 ZNF76 skos:exactMatch ncbigene:7629 semapv:UnspecifiedMatching -OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:13108 semapv:UnspecifiedMatching -OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:MZF1 semapv:UnspecifiedMatching -OMIM:194550 MZF1 skos:exactMatch ncbigene:7593 semapv:UnspecifiedMatching -OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:13150 semapv:UnspecifiedMatching -OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:ZNF77 semapv:UnspecifiedMatching -OMIM:194551 ZNF77 skos:exactMatch ncbigene:58492 semapv:UnspecifiedMatching -OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:13153 semapv:UnspecifiedMatching -OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:ZNF79 semapv:UnspecifiedMatching -OMIM:194552 ZNF79 skos:exactMatch ncbigene:7633 semapv:UnspecifiedMatching -OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:13155 semapv:UnspecifiedMatching -OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:ZNF80 semapv:UnspecifiedMatching -OMIM:194553 ZNF80 skos:exactMatch ncbigene:7634 semapv:UnspecifiedMatching -OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:13111 semapv:UnspecifiedMatching -OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:ZNF45 semapv:UnspecifiedMatching -OMIM:194554 ZNF45 skos:exactMatch ncbigene:7596 semapv:UnspecifiedMatching -OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:13017 semapv:UnspecifiedMatching -OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:ZNF224 semapv:UnspecifiedMatching -OMIM:194555 ZNF224 skos:exactMatch ncbigene:7767 semapv:UnspecifiedMatching -OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:12924 semapv:UnspecifiedMatching -OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:ZNF14 semapv:UnspecifiedMatching -OMIM:194556 ZNF14 skos:exactMatch ncbigene:7561 semapv:UnspecifiedMatching -OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:12992 semapv:UnspecifiedMatching -OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:ZNF20 semapv:UnspecifiedMatching -OMIM:194557 ZNF20 skos:exactMatch ncbigene:7568 semapv:UnspecifiedMatching -OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:13158 semapv:UnspecifiedMatching -OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:ZNF83 semapv:UnspecifiedMatching -OMIM:194558 ZNF83 skos:exactMatch ncbigene:55769 semapv:UnspecifiedMatching -OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:12897 semapv:UnspecifiedMatching -OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:ZNF117 semapv:UnspecifiedMatching -OMIM:194624 ZNF117 skos:exactMatch ncbigene:51351 semapv:UnspecifiedMatching -OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:12904 semapv:UnspecifiedMatching -OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:ZNF121 semapv:UnspecifiedMatching -OMIM:194628 ZNF121 skos:exactMatch ncbigene:7675 semapv:UnspecifiedMatching -OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:12906 semapv:UnspecifiedMatching -OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:ZNF123P semapv:UnspecifiedMatching -OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:12907 semapv:UnspecifiedMatching -OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:ZNF124 semapv:UnspecifiedMatching -OMIM:194631 ZNF124 skos:exactMatch ncbigene:7678 semapv:UnspecifiedMatching -OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:12926 semapv:UnspecifiedMatching -OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:ZNF141 semapv:UnspecifiedMatching -OMIM:194648 ZNF141 skos:exactMatch ncbigene:7700 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch UMLS:C1421864 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:13187 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:ZP1 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch ncbigene:22917 semapv:UnspecifiedMatching -OMIM:200350 ACACA skos:exactMatch hgnc.symbol:84 semapv:UnspecifiedMatching -OMIM:200350 ACACA skos:exactMatch hgnc.symbol:ACACA semapv:UnspecifiedMatching -OMIM:200350 ACACA skos:exactMatch ncbigene:31 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:932 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching -OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:418 semapv:UnspecifiedMatching -OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 semapv:UnspecifiedMatching -OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch UMLS:C2936858 semapv:UnspecifiedMatching -OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching -OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch UMLS:C1859966 semapv:UnspecifiedMatching -OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching -OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching -OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch Orphanet:363717 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch UMLS:C0270726 semapv:UnspecifiedMatching -OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching -OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C1859878 semapv:UnspecifiedMatching -OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C4551986 semapv:UnspecifiedMatching -OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:228346 semapv:UnspecifiedMatching -OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching -OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching -OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:228340 semapv:UnspecifiedMatching -OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching -OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching -OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching -OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching -OMIM:207800 argininemia skos:exactMatch Orphanet:90 semapv:UnspecifiedMatching -OMIM:207800 argininemia skos:exactMatch UMLS:C0268548 semapv:UnspecifiedMatching -OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch Orphanet:51608 semapv:UnspecifiedMatching -OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C1859727 semapv:UnspecifiedMatching -OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching -OMIM:208050 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 semapv:UnspecifiedMatching -OMIM:208050 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching -OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies skos:exactMatch UMLS:C1859723 semapv:UnspecifiedMatching -OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch Orphanet:1143 semapv:UnspecifiedMatching -OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C1859721 semapv:UnspecifiedMatching -OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching -OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching -OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch UMLS:C1276035 semapv:UnspecifiedMatching -OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch Orphanet:1159 semapv:UnspecifiedMatching -OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch UMLS:C0432215 semapv:UnspecifiedMatching -OMIM:208400 aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:UnspecifiedMatching -OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching -OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C2931840 semapv:UnspecifiedMatching -OMIM:208530 right atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching -OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C0175707 semapv:UnspecifiedMatching -OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching -OMIM:208900 ataxia-telangiectasia skos:exactMatch Orphanet:100 semapv:UnspecifiedMatching -OMIM:208900 ataxia-telangiectasia skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching -OMIM:209850 autism skos:exactMatch UMLS:C0004352 semapv:UnspecifiedMatching -OMIM:209850 autism skos:exactMatch UMLS:C1510586 semapv:UnspecifiedMatching -OMIM:209850 autism skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching -OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:966 semapv:UnspecifiedMatching -OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:BBS1 semapv:UnspecifiedMatching -OMIM:209901 BBS1 skos:exactMatch ncbigene:582 semapv:UnspecifiedMatching -OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:319569 semapv:UnspecifiedMatching -OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching -OMIM:209950 immunodeficiency 27a skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching -OMIM:210000 behr syndrome skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:101022 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching -OMIM:210600 seckel syndrome 1 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching -OMIM:210600 seckel syndrome 1 skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching -OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch Orphanet:2636 semapv:UnspecifiedMatching -OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching -OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:4012 semapv:UnspecifiedMatching -OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:FUT1 semapv:UnspecifiedMatching -OMIM:211100 FUT1 skos:exactMatch ncbigene:2523 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C1876187 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C4692564 semapv:UnspecifiedMatching -OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching -OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch UMLS:C1859359 semapv:UnspecifiedMatching -OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch Orphanet:79318 semapv:UnspecifiedMatching -OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching -OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch Orphanet:79329 semapv:UnspecifiedMatching -OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch UMLS:C2931008 semapv:UnspecifiedMatching -OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch Orphanet:158 semapv:UnspecifiedMatching -OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching -OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching -OMIM:212750 celiac disease, susceptibility to, 1 skos:exactMatch UMLS:C1859310 semapv:UnspecifiedMatching -OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch Orphanet:2246 semapv:UnspecifiedMatching -OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching -OMIM:213300 joubert syndrome 1 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching -OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C0431399 semapv:UnspecifiedMatching -OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C4551568 semapv:UnspecifiedMatching -OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching -OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch UMLS:C4551624 semapv:UnspecifiedMatching -OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch Orphanet:1394 semapv:UnspecifiedMatching -OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching -OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching -OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching -OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching -OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching -OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching -OMIM:215300 chondrosarcoma skos:exactMatch Orphanet:55880 semapv:UnspecifiedMatching -OMIM:215300 chondrosarcoma skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching -OMIM:216340 yunis-varon syndrome skos:exactMatch Orphanet:3472 semapv:UnspecifiedMatching -OMIM:216340 yunis-varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching -OMIM:216360 coach syndrome 1 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching -OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C1857662 semapv:UnspecifiedMatching -OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching -OMIM:216550 cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching -OMIM:216550 cohen syndrome skos:exactMatch UMLS:C0265223 semapv:UnspecifiedMatching -OMIM:217030 CFI skos:exactMatch hgnc.symbol:5394 semapv:UnspecifiedMatching -OMIM:217030 CFI skos:exactMatch hgnc.symbol:CFI semapv:UnspecifiedMatching -OMIM:217030 CFI skos:exactMatch ncbigene:3426 semapv:UnspecifiedMatching -OMIM:217050 C6 skos:exactMatch hgnc.symbol:1339 semapv:UnspecifiedMatching -OMIM:217050 C6 skos:exactMatch hgnc.symbol:C6 semapv:UnspecifiedMatching -OMIM:217050 C6 skos:exactMatch ncbigene:729 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch UMLS:C1413019 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch UMLS:C4017564 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch hgnc.symbol:1346 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch hgnc.symbol:C7 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch ncbigene:730 semapv:UnspecifiedMatching -OMIM:217080 jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching -OMIM:217080 jalili syndrome skos:exactMatch UMLS:C3495589 semapv:UnspecifiedMatching -OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch Orphanet:1338 semapv:UnspecifiedMatching -OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching -OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch Orphanet:1490 semapv:UnspecifiedMatching -OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch UMLS:C1857572 semapv:UnspecifiedMatching -OMIM:218040 costello syndrome skos:exactMatch Orphanet:3071 semapv:UnspecifiedMatching -OMIM:218040 costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching -OMIM:218040 costello syndrome skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching -OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching -OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching -OMIM:219500 cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching -OMIM:219500 cystathioninuria skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching -OMIM:219500 cystathioninuria skos:exactMatch UMLS:C3495552 semapv:UnspecifiedMatching -OMIM:219700 cystic fibrosis skos:exactMatch Orphanet:586 semapv:UnspecifiedMatching -OMIM:219700 cystic fibrosis skos:exactMatch UMLS:C0010674 semapv:UnspecifiedMatching -OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C0268237 semapv:UnspecifiedMatching -OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching -OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching -OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching -OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching -OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching -OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C4551776 semapv:UnspecifiedMatching -OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C0011854 semapv:UnspecifiedMatching -OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C5435660 semapv:UnspecifiedMatching -OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:2753 semapv:UnspecifiedMatching -OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:DECR1 semapv:UnspecifiedMatching -OMIM:222745 DECR1 skos:exactMatch ncbigene:1666 semapv:UnspecifiedMatching -OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch Orphanet:38874 semapv:UnspecifiedMatching -OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching -OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C3495551 semapv:UnspecifiedMatching -OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching -OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching -OMIM:223360 orthostatic hypotension 1 skos:exactMatch Orphanet:230 semapv:UnspecifiedMatching -OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C0342687 semapv:UnspecifiedMatching -OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C4746777 semapv:UnspecifiedMatching -OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch Orphanet:239 semapv:UnspecifiedMatching -OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch UMLS:C0265286 semapv:UnspecifiedMatching -OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch Orphanet:1764 semapv:UnspecifiedMatching -OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching -OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching -OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching -OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching -OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching -OMIM:225000 rosselli-gulienetti syndrome skos:exactMatch UMLS:C0796139 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1833538 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching -OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching -OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch UMLS:C1857041 semapv:UnspecifiedMatching -OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch Orphanet:221126 semapv:UnspecifiedMatching -OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C1856972 semapv:UnspecifiedMatching -OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C3203738 semapv:UnspecifiedMatching -OMIM:226200 enterokinase deficiency skos:exactMatch Orphanet:168601 semapv:UnspecifiedMatching -OMIM:226200 enterokinase deficiency skos:exactMatch UMLS:C0268416 semapv:UnspecifiedMatching -OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch Orphanet:566175 semapv:UnspecifiedMatching -OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch UMLS:C4538570 semapv:UnspecifiedMatching -OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch Orphanet:79404 semapv:UnspecifiedMatching -OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch UMLS:C0079683 semapv:UnspecifiedMatching -OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching -OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch UMLS:C1856934 semapv:UnspecifiedMatching -OMIM:226960 lowry-wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching -OMIM:226960 lowry-wood syndrome skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching -OMIM:227400 factor 5 deficiency skos:exactMatch Orphanet:326 semapv:UnspecifiedMatching -OMIM:227400 factor 5 deficiency skos:exactMatch UMLS:C0015499 semapv:UnspecifiedMatching -OMIM:228000 farber lipogranulomatosis skos:exactMatch Orphanet:333 semapv:UnspecifiedMatching -OMIM:228000 farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching -OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching -OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C0432284 semapv:UnspecifiedMatching -OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching -OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch Orphanet:2639 semapv:UnspecifiedMatching -OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching -OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:6371 semapv:UnspecifiedMatching -OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:KLKB1 semapv:UnspecifiedMatching -OMIM:229000 KLKB1 skos:exactMatch ncbigene:3818 semapv:UnspecifiedMatching -OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch Orphanet:51208 semapv:UnspecifiedMatching -OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching -OMIM:229600 fructose intolerance, hereditary skos:exactMatch Orphanet:469 semapv:UnspecifiedMatching -OMIM:229600 fructose intolerance, hereditary skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:79237 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching -OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching -OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching -OMIM:230400 galactosemia 1 skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching -OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching -OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching -OMIM:230800 gaucher disease, iia 1 skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching -OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching -OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:77261 semapv:UnspecifiedMatching -OMIM:231000 gaucher disease, iia 3 skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching -OMIM:231070 geroderma osteodysplasticum skos:exactMatch Orphanet:2078 semapv:UnspecifiedMatching -OMIM:231070 geroderma osteodysplasticum skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching -OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching -OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch UMLS:C1856465 semapv:UnspecifiedMatching -OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:3483 semapv:UnspecifiedMatching -OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:ETFDH semapv:UnspecifiedMatching -OMIM:231675 ETFDH skos:exactMatch ncbigene:2110 semapv:UnspecifiedMatching -OMIM:231970 gluteal muscles, absence of skos:exactMatch UMLS:C1856398 semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch UMLS:C1418303 semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch hgnc.symbol:8653 semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch hgnc.symbol:PCCA semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch ncbigene:5095 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch UMLS:C1418304 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch hgnc.symbol:8654 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch hgnc.symbol:PCCB semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch ncbigene:5096 semapv:UnspecifiedMatching -OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching -OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:79258 semapv:UnspecifiedMatching -OMIM:232200 glycogen storage disease ia skos:exactMatch UMLS:C2919796 semapv:UnspecifiedMatching -OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching -OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:79259 semapv:UnspecifiedMatching -OMIM:232220 glycogen storage disease ib skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching -OMIM:232300 glycogen storage disease 2 skos:exactMatch Orphanet:365 semapv:UnspecifiedMatching -OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching -OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C2931347 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch Orphanet:366 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968739 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968740 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968741 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968742 semapv:UnspecifiedMatching -OMIM:232700 glycogen storage disease 6 skos:exactMatch Orphanet:369 semapv:UnspecifiedMatching -OMIM:232700 glycogen storage disease 6 skos:exactMatch UMLS:C0017925 semapv:UnspecifiedMatching -OMIM:233100 renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching -OMIM:233100 renal glucosuria skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching -OMIM:233420 46,xy sex reversal 7 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching -OMIM:233420 46,xy sex reversal 7 skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching -OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching -OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching -OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216866 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch UMLS:C0018523 semapv:UnspecifiedMatching -OMIM:234500 hartnup disorder skos:exactMatch Orphanet:2116 semapv:UnspecifiedMatching -OMIM:234500 hartnup disorder skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261552 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0078982 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0266667 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching -OMIM:236690 hydrocephalus, normal-pressure, 1 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:1041 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch UMLS:C0455988 semapv:UnspecifiedMatching -OMIM:236800 hydroxykynureninuria skos:exactMatch Orphanet:79155 semapv:UnspecifiedMatching -OMIM:236800 hydroxykynureninuria skos:exactMatch UMLS:C0268474 semapv:UnspecifiedMatching -OMIM:238300 GLDC skos:exactMatch hgnc.symbol:4313 semapv:UnspecifiedMatching -OMIM:238300 GLDC skos:exactMatch hgnc.symbol:GLDC semapv:UnspecifiedMatching -OMIM:238300 GLDC skos:exactMatch ncbigene:2731 semapv:UnspecifiedMatching -OMIM:238310 AMT skos:exactMatch hgnc.symbol:473 semapv:UnspecifiedMatching -OMIM:238310 AMT skos:exactMatch hgnc.symbol:AMT semapv:UnspecifiedMatching -OMIM:238310 AMT skos:exactMatch ncbigene:275 semapv:UnspecifiedMatching -OMIM:238330 GCSH skos:exactMatch hgnc.symbol:4208 semapv:UnspecifiedMatching -OMIM:238330 GCSH skos:exactMatch hgnc.symbol:GCSH semapv:UnspecifiedMatching -OMIM:238330 GCSH skos:exactMatch ncbigene:2653 semapv:UnspecifiedMatching -OMIM:238331 DLD skos:exactMatch hgnc.symbol:2898 semapv:UnspecifiedMatching -OMIM:238331 DLD skos:exactMatch hgnc.symbol:DLD semapv:UnspecifiedMatching -OMIM:238331 DLD skos:exactMatch ncbigene:1738 semapv:UnspecifiedMatching -OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch Orphanet:2203 semapv:UnspecifiedMatching -OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching -OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch Orphanet:415 semapv:UnspecifiedMatching -OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch UMLS:C0268540 semapv:UnspecifiedMatching -OMIM:240400 hypoascorbemia skos:exactMatch hgnc.symbol:4695 semapv:UnspecifiedMatching -OMIM:240400 hypoascorbemia skos:exactMatch hgnc.symbol:GULOP semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247623 semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247651 semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch UMLS:C0268412 semapv:UnspecifiedMatching -OMIM:241800 pallister-hall-like syndrome skos:exactMatch Orphanet:2113 semapv:UnspecifiedMatching -OMIM:241800 pallister-hall-like syndrome skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching -OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching -OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch Orphanet:83471 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C0152094 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C1744558 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch UMLS:C1425144 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch UMLS:C1865872 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch hgnc.symbol:17870 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch hgnc.symbol:INVS semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch ncbigene:27130 semapv:UnspecifiedMatching -OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch Orphanet:2995 semapv:UnspecifiedMatching -OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1853623 semapv:UnspecifiedMatching -OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1855722 semapv:UnspecifiedMatching -OMIM:243910 arima syndrome skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching -OMIM:243910 arima syndrome skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:98861 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4317124 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551720 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551906 semapv:UnspecifiedMatching -OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch Orphanet:832 semapv:UnspecifiedMatching -OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch UMLS:C0342792 semapv:UnspecifiedMatching -OMIM:245450 d-lactic aciduria with gout skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching -OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 semapv:UnspecifiedMatching -OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C1855548 semapv:UnspecifiedMatching -OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching -OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch Orphanet:284139 semapv:UnspecifiedMatching -OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching -OMIM:246530 LTC4S skos:exactMatch UMLS:C1416932 semapv:UnspecifiedMatching -OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:6719 semapv:UnspecifiedMatching -OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:LTC4S semapv:UnspecifiedMatching -OMIM:246530 LTC4S skos:exactMatch ncbigene:4056 semapv:UnspecifiedMatching -OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:9155 semapv:UnspecifiedMatching -OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:PNLIP semapv:UnspecifiedMatching -OMIM:246600 PNLIP skos:exactMatch ncbigene:5406 semapv:UnspecifiedMatching -OMIM:247980 LIPB skos:exactMatch hgnc.symbol:6618 semapv:UnspecifiedMatching -OMIM:247980 LIPB skos:exactMatch hgnc.symbol:LIPB semapv:UnspecifiedMatching -OMIM:247980 LIPB skos:exactMatch ncbigene:3989 semapv:UnspecifiedMatching -OMIM:248200 stargardt disease 1 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching -OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching -OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching -OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C4282180 semapv:UnspecifiedMatching -OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch Orphanet:943 semapv:UnspecifiedMatching -OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309288 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching -OMIM:248610 DBT skos:exactMatch hgnc.symbol:2698 semapv:UnspecifiedMatching -OMIM:248610 DBT skos:exactMatch hgnc.symbol:DBT semapv:UnspecifiedMatching -OMIM:248610 DBT skos:exactMatch ncbigene:1629 semapv:UnspecifiedMatching -OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:987 semapv:UnspecifiedMatching -OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:BCKDHB semapv:UnspecifiedMatching -OMIM:248611 BCKDHB skos:exactMatch ncbigene:594 semapv:UnspecifiedMatching -OMIM:248800 marinesco-sjogren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching -OMIM:248800 marinesco-sjogren syndrome skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching -OMIM:248900 mast syndrome skos:exactMatch Orphanet:101001 semapv:UnspecifiedMatching -OMIM:248900 mast syndrome skos:exactMatch UMLS:C1855346 semapv:UnspecifiedMatching -OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch Orphanet:2135 semapv:UnspecifiedMatching -OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch UMLS:C3151493 semapv:UnspecifiedMatching -OMIM:249000 meckel syndrome, iia 1 skos:exactMatch Orphanet:564 semapv:UnspecifiedMatching -OMIM:249000 meckel syndrome, iia 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching -OMIM:249100 familial mediterranean fever skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching -OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching -OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C5399837 semapv:UnspecifiedMatching -OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 semapv:UnspecifiedMatching -OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch UMLS:C0342287 semapv:UnspecifiedMatching -OMIM:249700 langer mesomelic dysplasia skos:exactMatch Orphanet:2632 semapv:UnspecifiedMatching -OMIM:249700 langer mesomelic dysplasia skos:exactMatch UMLS:C0432230 semapv:UnspecifiedMatching -OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching -OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch UMLS:C0268262 semapv:UnspecifiedMatching -OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch Orphanet:93317 semapv:UnspecifiedMatching -OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch UMLS:C1855229 semapv:UnspecifiedMatching -OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching -OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:27 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:289916 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:79312 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch UMLS:C1855114 semapv:UnspecifiedMatching -OMIM:251170 MVK skos:exactMatch hgnc.symbol:7530 semapv:UnspecifiedMatching -OMIM:251170 MVK skos:exactMatch hgnc.symbol:MVK semapv:UnspecifiedMatching -OMIM:251170 MVK skos:exactMatch ncbigene:4598 semapv:UnspecifiedMatching -OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching -OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching -OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching -OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C3489725 semapv:UnspecifiedMatching -OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C4552078 semapv:UnspecifiedMatching -OMIM:251450 desbuquois dysplasia 1 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching -OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C0432242 semapv:UnspecifiedMatching -OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching -OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy skos:exactMatch UMLS:C5193007 semapv:UnspecifiedMatching -OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch Orphanet:2597 semapv:UnspecifiedMatching -OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch UMLS:C1855033 semapv:UnspecifiedMatching -OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching -OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching -OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching -OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch Orphanet:3208 semapv:UnspecifiedMatching -OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1855008 semapv:UnspecifiedMatching -OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching -OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C1854978 semapv:UnspecifiedMatching -OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch UMLS:C0026708 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch UMLS:C0086431 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch UMLS:C0086795 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch UMLS:C1442485 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch UMLS:C4016443 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch hgnc.symbol:5391 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch hgnc.symbol:IDUA semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch ncbigene:3425 semapv:UnspecifiedMatching -OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching -OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:79269 semapv:UnspecifiedMatching -OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch UMLS:C0086647 semapv:UnspecifiedMatching -OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching -OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:79270 semapv:UnspecifiedMatching -OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch UMLS:C0086648 semapv:UnspecifiedMatching -OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching -OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:79271 semapv:UnspecifiedMatching -OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch UMLS:C0086649 semapv:UnspecifiedMatching -OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching -OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:79272 semapv:UnspecifiedMatching -OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch UMLS:C0086650 semapv:UnspecifiedMatching -OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:309297 semapv:UnspecifiedMatching -OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching -OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch UMLS:C0086651 semapv:UnspecifiedMatching -OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:309310 semapv:UnspecifiedMatching -OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching -OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching -OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching -OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching -OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch Orphanet:584 semapv:UnspecifiedMatching -OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching -OMIM:253260 biotinidase deficiency skos:exactMatch Orphanet:79241 semapv:UnspecifiedMatching -OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching -OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C1854698 semapv:UnspecifiedMatching -OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching -OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching -OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch UMLS:C1869123 semapv:UnspecifiedMatching -OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch Orphanet:268 semapv:UnspecifiedMatching -OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching -OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch Orphanet:1878 semapv:UnspecifiedMatching -OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch UMLS:C0270968 semapv:UnspecifiedMatching -OMIM:254450 myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatching -OMIM:254450 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching -OMIM:254600 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching -OMIM:254600 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching -OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching -OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching -OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching -OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching -OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch Orphanet:169186 semapv:UnspecifiedMatching -OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching -OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching -OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching -OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching -OMIM:255995 congenital myopathy 13 skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching -OMIM:255995 congenital myopathy 13 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching -OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch Orphanet:2613 semapv:UnspecifiedMatching -OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching -OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching -OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching -OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching -OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch Orphanet:643 semapv:UnspecifiedMatching -OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching -OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching -OMIM:257150 neutrophil actin dysfunction skos:exactMatch UMLS:C1850380 semapv:UnspecifiedMatching -OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching -OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C0220756 semapv:UnspecifiedMatching -OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching -OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching -OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:2506 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:293843 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching -OMIM:257980 odontoonychodermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching -OMIM:257980 odontoonychodermal dysplasia skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching -OMIM:258040 oeis complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching -OMIM:258040 oeis complex skos:exactMatch Orphanet:93929 semapv:UnspecifiedMatching -OMIM:258040 oeis complex skos:exactMatch UMLS:C1850321 semapv:UnspecifiedMatching -OMIM:258150 spermatogenic failure 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching -OMIM:258150 spermatogenic failure 1 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching -OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch Orphanet:254886 semapv:UnspecifiedMatching -OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching -OMIM:258480 opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching -OMIM:258480 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching -OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching -OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching -OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch Orphanet:141007 semapv:UnspecifiedMatching -OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch UMLS:C0796102 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:1525 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:2796 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C0029411 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching -OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching -OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching -OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching -OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch UMLS:C0410422 semapv:UnspecifiedMatching -OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch Orphanet:2785 semapv:UnspecifiedMatching -OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch UMLS:C0345407 semapv:UnspecifiedMatching -OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching -OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:93598 semapv:UnspecifiedMatching -OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching -OMIM:260350 pancreatic cancer skos:exactMatch Orphanet:1333 semapv:UnspecifiedMatching -OMIM:260350 pancreatic cancer skos:exactMatch UMLS:C0235974 semapv:UnspecifiedMatching -OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching -OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C0272170 semapv:UnspecifiedMatching -OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C4692625 semapv:UnspecifiedMatching -OMIM:261000 intrinsic factor deficiency skos:exactMatch Orphanet:332 semapv:UnspecifiedMatching -OMIM:261000 intrinsic factor deficiency skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching -OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching -OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4016819 semapv:UnspecifiedMatching -OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching -OMIM:261600 phenylketonuria skos:exactMatch Orphanet:2209 semapv:UnspecifiedMatching -OMIM:261600 phenylketonuria skos:exactMatch Orphanet:716 semapv:UnspecifiedMatching -OMIM:261600 phenylketonuria skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching -OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:90695 semapv:UnspecifiedMatching -OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:95494 semapv:UnspecifiedMatching -OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0242343 semapv:UnspecifiedMatching -OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching -OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching -OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching -OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching -OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch UMLS:C0024507 semapv:UnspecifiedMatching -OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching -OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:238583 semapv:UnspecifiedMatching -OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch UMLS:C1849700 semapv:UnspecifiedMatching -OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch Orphanet:3455 semapv:UnspecifiedMatching -OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch UMLS:C0406586 semapv:UnspecifiedMatching -OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 semapv:UnspecifiedMatching -OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch UMLS:C0432206 semapv:UnspecifiedMatching -OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch Orphanet:2971 semapv:UnspecifiedMatching -OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching -OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch Orphanet:2166 semapv:UnspecifiedMatching -OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch UMLS:C1849649 semapv:UnspecifiedMatching -OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching -OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch UMLS:C0268689 semapv:UnspecifiedMatching -OMIM:264900 F11 skos:exactMatch hgnc.symbol:3529 semapv:UnspecifiedMatching -OMIM:264900 F11 skos:exactMatch hgnc.symbol:F11 semapv:UnspecifiedMatching -OMIM:264900 F11 skos:exactMatch ncbigene:2160 semapv:UnspecifiedMatching -OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch Orphanet:2414 semapv:UnspecifiedMatching -OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch UMLS:C1849554 semapv:UnspecifiedMatching -OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 semapv:UnspecifiedMatching -OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching -OMIM:265900 pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatching -OMIM:265900 pyle disease skos:exactMatch UMLS:C0265294 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching -OMIM:266600 inflammatory bowel disease (crohn disease) 1 skos:exactMatch UMLS:C0010346 semapv:UnspecifiedMatching -OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching -OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching -OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C0403554 semapv:UnspecifiedMatching -OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching -OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching -OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C0272199 semapv:UnspecifiedMatching -OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C4551514 semapv:UnspecifiedMatching -OMIM:267750 knobloch syndrome 1 skos:exactMatch Orphanet:1571 semapv:UnspecifiedMatching -OMIM:267750 knobloch syndrome 1 skos:exactMatch UMLS:C1849409 semapv:UnspecifiedMatching -OMIM:267750 knobloch syndrome 1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching -OMIM:268000 retinitis pigmentosa skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:268000 retinitis pigmentosa skos:exactMatch UMLS:C0035334 semapv:UnspecifiedMatching -OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch Orphanet:3087 semapv:UnspecifiedMatching -OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch UMLS:C1849399 semapv:UnspecifiedMatching -OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch Orphanet:3084 semapv:UnspecifiedMatching -OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch UMLS:C0796072 semapv:UnspecifiedMatching -OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch Orphanet:3103 semapv:UnspecifiedMatching -OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch UMLS:C0392475 semapv:UnspecifiedMatching -OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch Orphanet:3102 semapv:UnspecifiedMatching -OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch UMLS:C1849348 semapv:UnspecifiedMatching -OMIM:268700 saccharopinuria skos:exactMatch Orphanet:3124 semapv:UnspecifiedMatching -OMIM:268700 saccharopinuria skos:exactMatch UMLS:C0268556 semapv:UnspecifiedMatching -OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch Orphanet:93268 semapv:UnspecifiedMatching -OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch UMLS:C0432198 semapv:UnspecifiedMatching -OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching -OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C0037221 semapv:UnspecifiedMatching -OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C3495537 semapv:UnspecifiedMatching -OMIM:270150 sjogren syndrome skos:exactMatch Orphanet:289390 semapv:UnspecifiedMatching -OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C0086981 semapv:UnspecifiedMatching -OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C1527336 semapv:UnspecifiedMatching -OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch Orphanet:100998 semapv:UnspecifiedMatching -OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching -OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch Orphanet:100986 semapv:UnspecifiedMatching -OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching -OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch Orphanet:93357 semapv:UnspecifiedMatching -OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch UMLS:C1300260 semapv:UnspecifiedMatching -OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch Orphanet:93359 semapv:UnspecifiedMatching -OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch UMLS:C0432243 semapv:UnspecifiedMatching -OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch Orphanet:93358 semapv:UnspecifiedMatching -OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch UMLS:C1849011 semapv:UnspecifiedMatching -OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching -OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching -OMIM:272200 multiple sulfatase deficiency skos:exactMatch Orphanet:585 semapv:UnspecifiedMatching -OMIM:272200 multiple sulfatase deficiency skos:exactMatch UMLS:C0268263 semapv:UnspecifiedMatching -OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:833 semapv:UnspecifiedMatching -OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching -OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching -OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching -OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1832409 semapv:UnspecifiedMatching -OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1848947 semapv:UnspecifiedMatching -OMIM:272950 teebi-shaltout syndrome skos:exactMatch Orphanet:3291 semapv:UnspecifiedMatching -OMIM:272950 teebi-shaltout syndrome skos:exactMatch UMLS:C1848912 semapv:UnspecifiedMatching -OMIM:273250 46,xy sex reversal 11 skos:exactMatch Orphanet:983 semapv:UnspecifiedMatching -OMIM:273250 46,xy sex reversal 11 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching -OMIM:273900 thrombocytopenia 3 skos:exactMatch Orphanet:168629 semapv:UnspecifiedMatching -OMIM:273900 thrombocytopenia 3 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching -OMIM:273900 thrombocytopenia 3 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching -OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 semapv:UnspecifiedMatching -OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch UMLS:C0175703 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:54057 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:93583 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1956258 semapv:UnspecifiedMatching -OMIM:274180 TBXAS1 skos:exactMatch UMLS:C1420620 semapv:UnspecifiedMatching -OMIM:274180 TBXAS1 skos:exactMatch UMLS:C4016444 semapv:UnspecifiedMatching -OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:11609 semapv:UnspecifiedMatching -OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:TBXAS1 semapv:UnspecifiedMatching -OMIM:274180 TBXAS1 skos:exactMatch ncbigene:6916 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494547 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494550 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500464 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500481 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502363 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502366 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch UMLS:C1168401 semapv:UnspecifiedMatching -OMIM:275360 TREH skos:exactMatch hgnc.symbol:12266 semapv:UnspecifiedMatching -OMIM:275360 TREH skos:exactMatch hgnc.symbol:TREH semapv:UnspecifiedMatching -OMIM:275360 TREH skos:exactMatch ncbigene:11181 semapv:UnspecifiedMatching -OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch Orphanet:3363 semapv:UnspecifiedMatching -OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch UMLS:C1848745 semapv:UnspecifiedMatching -OMIM:275630 chanarin-dorfman syndrome skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching -OMIM:275630 chanarin-dorfman syndrome skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching -OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:9475 semapv:UnspecifiedMatching -OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:PRSS1 semapv:UnspecifiedMatching -OMIM:276000 PRSS1 skos:exactMatch ncbigene:5644 semapv:UnspecifiedMatching -OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching -OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C0265325 semapv:UnspecifiedMatching -OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching -OMIM:276600 tyrosinemia, iia 2 skos:exactMatch Orphanet:28378 semapv:UnspecifiedMatching -OMIM:276600 tyrosinemia, iia 2 skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching -OMIM:276700 tyrosinemia, iia 1 skos:exactMatch Orphanet:882 semapv:UnspecifiedMatching -OMIM:276700 tyrosinemia, iia 1 skos:exactMatch UMLS:C0268490 semapv:UnspecifiedMatching -OMIM:276710 tyrosinemia, iia 3 skos:exactMatch Orphanet:69723 semapv:UnspecifiedMatching -OMIM:276710 tyrosinemia, iia 3 skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching -OMIM:276901 usher syndrome, iia 2a skos:exactMatch Orphanet:231178 semapv:UnspecifiedMatching -OMIM:276901 usher syndrome, iia 2a skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching -OMIM:276901 usher syndrome, iia 2a skos:exactMatch UMLS:C1848634 semapv:UnspecifiedMatching -OMIM:276903 MYO7A skos:exactMatch hgnc.symbol:7606 semapv:UnspecifiedMatching -OMIM:276903 MYO7A skos:exactMatch hgnc.symbol:MYO7A semapv:UnspecifiedMatching -OMIM:276903 MYO7A skos:exactMatch ncbigene:4647 semapv:UnspecifiedMatching -OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:231169 semapv:UnspecifiedMatching -OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching -OMIM:276904 usher syndrome, iia 1c skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching -OMIM:277100 valinemia skos:exactMatch UMLS:C0268573 semapv:UnspecifiedMatching -OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching -OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C0403814 semapv:UnspecifiedMatching -OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C5393224 semapv:UnspecifiedMatching -OMIM:277590 weaver syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching -OMIM:277590 weaver syndrome skos:exactMatch UMLS:C0265210 semapv:UnspecifiedMatching -OMIM:277900 wilson disease skos:exactMatch Orphanet:905 semapv:UnspecifiedMatching -OMIM:277900 wilson disease skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching -OMIM:277950 winchester syndrome skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching -OMIM:277950 winchester syndrome skos:exactMatch UMLS:C0432289 semapv:UnspecifiedMatching -OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching -OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:220295 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C1968561 semapv:UnspecifiedMatching -OMIM:300002 ARSD skos:exactMatch hgnc.symbol:717 semapv:UnspecifiedMatching -OMIM:300002 ARSD skos:exactMatch hgnc.symbol:ARSD semapv:UnspecifiedMatching -OMIM:300002 ARSD skos:exactMatch ncbigene:414 semapv:UnspecifiedMatching -OMIM:300003 ARSF skos:exactMatch hgnc.symbol:721 semapv:UnspecifiedMatching -OMIM:300003 ARSF skos:exactMatch hgnc.symbol:ARSF semapv:UnspecifiedMatching -OMIM:300003 ARSF skos:exactMatch ncbigene:416 semapv:UnspecifiedMatching -OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching -OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching -OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:6990 semapv:UnspecifiedMatching -OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:MECP2 semapv:UnspecifiedMatching -OMIM:300005 MECP2 skos:exactMatch ncbigene:4204 semapv:UnspecifiedMatching -OMIM:300006 CETN2 skos:exactMatch UMLS:C1413351 semapv:UnspecifiedMatching -OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:1867 semapv:UnspecifiedMatching -OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:CETN2 semapv:UnspecifiedMatching -OMIM:300006 CETN2 skos:exactMatch ncbigene:1069 semapv:UnspecifiedMatching -OMIM:300007 IL9R skos:exactMatch UMLS:C1416413 semapv:UnspecifiedMatching -OMIM:300007 IL9R skos:exactMatch hgnc.symbol:6030 semapv:UnspecifiedMatching -OMIM:300007 IL9R skos:exactMatch hgnc.symbol:IL9R semapv:UnspecifiedMatching -OMIM:300007 IL9R skos:exactMatch ncbigene:3581 semapv:UnspecifiedMatching -OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:2023 semapv:UnspecifiedMatching -OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:CLCN5 semapv:UnspecifiedMatching -OMIM:300008 CLCN5 skos:exactMatch ncbigene:1184 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch UMLS:C0268353 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch UMLS:C1412688 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch UMLS:C1845359 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch UMLS:C4016446 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch UMLS:C4016447 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch hgnc.symbol:869 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch hgnc.symbol:ATP7A semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch ncbigene:538 semapv:UnspecifiedMatching -OMIM:300012 SMARCA1 skos:exactMatch hgnc.symbol:11097 semapv:UnspecifiedMatching -OMIM:300012 SMARCA1 skos:exactMatch hgnc.symbol:SMARCA1 semapv:UnspecifiedMatching -OMIM:300012 SMARCA1 skos:exactMatch ncbigene:6594 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch UMLS:C1538918 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch UMLS:C3275447 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch hgnc.symbol:18704 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch hgnc.symbol:NAA10 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch ncbigene:8260 semapv:UnspecifiedMatching -OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:816 semapv:UnspecifiedMatching -OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:ATP2B3 semapv:UnspecifiedMatching -OMIM:300014 ATP2B3 skos:exactMatch ncbigene:492 semapv:UnspecifiedMatching -OMIM:300015 ASMT skos:exactMatch hgnc.symbol:750 semapv:UnspecifiedMatching -OMIM:300015 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching -OMIM:300015 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching -OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:6796 semapv:UnspecifiedMatching -OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:MAGEA1 semapv:UnspecifiedMatching -OMIM:300016 MAGEA1 skos:exactMatch ncbigene:4100 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C0262436 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C0265251 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C1414635 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C1844696 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C1845902 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C2746068 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C2748918 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C3806579 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4016451 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4225601 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4225602 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch UMLS:C4281559 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch hgnc.symbol:3754 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch hgnc.symbol:FLNA semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch ncbigene:2316 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch UMLS:C1415493 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:4839 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:HCFC1 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch ncbigene:3054 semapv:UnspecifiedMatching -OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:9101 semapv:UnspecifiedMatching -OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:PLXNA3 semapv:UnspecifiedMatching -OMIM:300022 PLXNA3 skos:exactMatch ncbigene:55558 semapv:UnspecifiedMatching -OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:674 semapv:UnspecifiedMatching -OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:ARHGAP4 semapv:UnspecifiedMatching -OMIM:300023 ARHGAP4 skos:exactMatch ncbigene:393 semapv:UnspecifiedMatching -OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:12942 semapv:UnspecifiedMatching -OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:ZNF157 semapv:UnspecifiedMatching -OMIM:300024 ZNF157 skos:exactMatch ncbigene:7712 semapv:UnspecifiedMatching -OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:1808 semapv:UnspecifiedMatching -OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:CDX4 semapv:UnspecifiedMatching -OMIM:300025 CDX4 skos:exactMatch ncbigene:1046 semapv:UnspecifiedMatching -OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:7638 semapv:UnspecifiedMatching -OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:NAP1L2 semapv:UnspecifiedMatching -OMIM:300026 NAP1L2 skos:exactMatch ncbigene:4674 semapv:UnspecifiedMatching -OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:9900 semapv:UnspecifiedMatching -OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:RBM3 semapv:UnspecifiedMatching -OMIM:300027 RBM3 skos:exactMatch ncbigene:5935 semapv:UnspecifiedMatching -OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:23019 semapv:UnspecifiedMatching -OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:ZRSR2 semapv:UnspecifiedMatching -OMIM:300028 ZRSR2 skos:exactMatch ncbigene:8233 semapv:UnspecifiedMatching -OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:17125 semapv:UnspecifiedMatching -OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:TMEM185A semapv:UnspecifiedMatching -OMIM:300031 FAM11A skos:exactMatch ncbigene:84548 semapv:UnspecifiedMatching -OMIM:300032 ATRX skos:exactMatch hgnc.symbol:886 semapv:UnspecifiedMatching -OMIM:300032 ATRX skos:exactMatch hgnc.symbol:ATRX semapv:UnspecifiedMatching -OMIM:300032 ATRX skos:exactMatch ncbigene:546 semapv:UnspecifiedMatching -OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:7139 semapv:UnspecifiedMatching -OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:FOXO4 semapv:UnspecifiedMatching -OMIM:300033 FOXO4 skos:exactMatch ncbigene:4303 semapv:UnspecifiedMatching -OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:338 semapv:UnspecifiedMatching -OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:AGTR2 semapv:UnspecifiedMatching -OMIM:300034 AGTR2 skos:exactMatch ncbigene:186 semapv:UnspecifiedMatching -OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:3226 semapv:UnspecifiedMatching -OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:EFNB1 semapv:UnspecifiedMatching -OMIM:300035 EFNB1 skos:exactMatch ncbigene:1947 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1420219 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1845862 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:11055 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:SLC6A8 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch ncbigene:6535 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch UMLS:C1415195 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch UMLS:C4016454 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:4451 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:GPC3 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch ncbigene:2719 semapv:UnspecifiedMatching -OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:8542 semapv:UnspecifiedMatching -OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:P2RY4 semapv:UnspecifiedMatching -OMIM:300038 P2RY4 skos:exactMatch ncbigene:5030 semapv:UnspecifiedMatching -OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:9217 semapv:UnspecifiedMatching -OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:POU3F4 semapv:UnspecifiedMatching -OMIM:300039 POU3F4 skos:exactMatch ncbigene:5456 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch UMLS:C1822777 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch UMLS:C5394560 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch UMLS:C5394561 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:11111 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:SMC1A semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch ncbigene:8243 semapv:UnspecifiedMatching -OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:4691 semapv:UnspecifiedMatching -OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:GUCY2F semapv:UnspecifiedMatching -OMIM:300041 GUCY2F skos:exactMatch ncbigene:2986 semapv:UnspecifiedMatching -OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:11835 semapv:UnspecifiedMatching -OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:TKTL1 semapv:UnspecifiedMatching -OMIM:300044 TKTL1 skos:exactMatch ncbigene:8277 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1845235 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C4551969 semapv:UnspecifiedMatching -OMIM:300050 USP11 skos:exactMatch hgnc.symbol:12609 semapv:UnspecifiedMatching -OMIM:300050 USP11 skos:exactMatch hgnc.symbol:USP11 semapv:UnspecifiedMatching -OMIM:300050 USP11 skos:exactMatch ncbigene:8237 semapv:UnspecifiedMatching -OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:4461 semapv:UnspecifiedMatching -OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:GPM6B semapv:UnspecifiedMatching -OMIM:300051 GPM6B skos:exactMatch ncbigene:2824 semapv:UnspecifiedMatching -OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:3032 semapv:UnspecifiedMatching -OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:DRP2 semapv:UnspecifiedMatching -OMIM:300052 DRP2 skos:exactMatch ncbigene:1821 semapv:UnspecifiedMatching -OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:11486 semapv:UnspecifiedMatching -OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:VAMP7 semapv:UnspecifiedMatching -OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch ncbigene:6845 semapv:UnspecifiedMatching -OMIM:300056 HCCS skos:exactMatch hgnc.symbol:4837 semapv:UnspecifiedMatching -OMIM:300056 HCCS skos:exactMatch hgnc.symbol:HCCS semapv:UnspecifiedMatching -OMIM:300056 HCCS skos:exactMatch ncbigene:3052 semapv:UnspecifiedMatching -OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:13705 semapv:UnspecifiedMatching -OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:TMEM187 semapv:UnspecifiedMatching -OMIM:300059 TMEM187 skos:exactMatch ncbigene:8269 semapv:UnspecifiedMatching -OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:26058 semapv:UnspecifiedMatching -OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:LAGE3 semapv:UnspecifiedMatching -OMIM:300060 LAGE3 skos:exactMatch ncbigene:8270 semapv:UnspecifiedMatching -OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:13054 semapv:UnspecifiedMatching -OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:ZMYM3 semapv:UnspecifiedMatching -OMIM:300061 ZMYM3 skos:exactMatch ncbigene:9203 semapv:UnspecifiedMatching -OMIM:300065 CENPI skos:exactMatch hgnc.symbol:3968 semapv:UnspecifiedMatching -OMIM:300065 CENPI skos:exactMatch hgnc.symbol:CENPI semapv:UnspecifiedMatching -OMIM:300065 CENPI skos:exactMatch ncbigene:2491 semapv:UnspecifiedMatching -OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:3670 semapv:UnspecifiedMatching -OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:FGF13 semapv:UnspecifiedMatching -OMIM:300070 FGF13 skos:exactMatch ncbigene:2258 semapv:UnspecifiedMatching -OMIM:300072 USP9X skos:exactMatch hgnc.symbol:12632 semapv:UnspecifiedMatching -OMIM:300072 USP9X skos:exactMatch hgnc.symbol:USP9X semapv:UnspecifiedMatching -OMIM:300072 USP9X skos:exactMatch ncbigene:8239 semapv:UnspecifiedMatching -OMIM:300074 XCE skos:exactMatch hgnc.symbol:12804 semapv:UnspecifiedMatching -OMIM:300074 XCE skos:exactMatch hgnc.symbol:XCE semapv:UnspecifiedMatching -OMIM:300074 XCE skos:exactMatch ncbigene:7497 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0265252 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0796225 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C1419744 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C4016455 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:10432 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:RPS6KA3 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch ncbigene:6197 semapv:UnspecifiedMatching -OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:7683 semapv:UnspecifiedMatching -OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:NDUFA1 semapv:UnspecifiedMatching -OMIM:300078 NDUFA1 skos:exactMatch ncbigene:4694 semapv:UnspecifiedMatching -OMIM:300079 XIAP skos:exactMatch hgnc.symbol:592 semapv:UnspecifiedMatching -OMIM:300079 XIAP skos:exactMatch hgnc.symbol:XIAP semapv:UnspecifiedMatching -OMIM:300079 XIAP skos:exactMatch ncbigene:331 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch UMLS:C1419296 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:9896 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:RBM10 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch ncbigene:8241 semapv:UnspecifiedMatching -OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:2957 semapv:UnspecifiedMatching -OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:DNASE1L1 semapv:UnspecifiedMatching -OMIM:300081 DNASE1L1 skos:exactMatch ncbigene:1774 semapv:UnspecifiedMatching -OMIM:300083 PRKX skos:exactMatch hgnc.symbol:9441 semapv:UnspecifiedMatching -OMIM:300083 PRKX skos:exactMatch hgnc.symbol:PRKX semapv:UnspecifiedMatching -OMIM:300083 PRKX skos:exactMatch ncbigene:5613 semapv:UnspecifiedMatching -OMIM:300084 NONO skos:exactMatch hgnc.symbol:7871 semapv:UnspecifiedMatching -OMIM:300084 NONO skos:exactMatch hgnc.symbol:NONO semapv:UnspecifiedMatching -OMIM:300084 NONO skos:exactMatch ncbigene:4841 semapv:UnspecifiedMatching -OMIM:300086 LPAR4 skos:exactMatch UMLS:C1415216 semapv:UnspecifiedMatching -OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:4478 semapv:UnspecifiedMatching -OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:LPAR4 semapv:UnspecifiedMatching -OMIM:300086 LPAR4 skos:exactMatch ncbigene:2846 semapv:UnspecifiedMatching -OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:101039 semapv:UnspecifiedMatching -OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching -OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching -OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:5386 semapv:UnspecifiedMatching -OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:IDH3G semapv:UnspecifiedMatching -OMIM:300089 IDH3G skos:exactMatch ncbigene:3421 semapv:UnspecifiedMatching -OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:11326 semapv:UnspecifiedMatching -OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:SSR4 semapv:UnspecifiedMatching -OMIM:300090 SSR4 skos:exactMatch ncbigene:6748 semapv:UnspecifiedMatching -OMIM:300091 FIGF skos:exactMatch hgnc.symbol:3708 semapv:UnspecifiedMatching -OMIM:300091 FIGF skos:exactMatch hgnc.symbol:VEGFD semapv:UnspecifiedMatching -OMIM:300091 FIGF skos:exactMatch ncbigene:2277 semapv:UnspecifiedMatching -OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:2563 semapv:UnspecifiedMatching -OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:TEX28 semapv:UnspecifiedMatching -OMIM:300092 TEX28 skos:exactMatch ncbigene:1527 semapv:UnspecifiedMatching -OMIM:300093 GABRE skos:exactMatch hgnc.symbol:4085 semapv:UnspecifiedMatching -OMIM:300093 GABRE skos:exactMatch hgnc.symbol:GABRE semapv:UnspecifiedMatching -OMIM:300093 GABRE skos:exactMatch ncbigene:2564 semapv:UnspecifiedMatching -OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:10923 semapv:UnspecifiedMatching -OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:SLC16A2 semapv:UnspecifiedMatching -OMIM:300095 SLC16A2 skos:exactMatch ncbigene:6567 semapv:UnspecifiedMatching -OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:11854 semapv:UnspecifiedMatching -OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:TSPAN7 semapv:UnspecifiedMatching -OMIM:300096 TSPAN7 skos:exactMatch ncbigene:7102 semapv:UnspecifiedMatching -OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:6808 semapv:UnspecifiedMatching -OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:MAGEB1 semapv:UnspecifiedMatching -OMIM:300097 MAGEB1 skos:exactMatch ncbigene:4112 semapv:UnspecifiedMatching -OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:6809 semapv:UnspecifiedMatching -OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:MAGEB2 semapv:UnspecifiedMatching -OMIM:300098 MAGEB2 skos:exactMatch ncbigene:4113 semapv:UnspecifiedMatching -OMIM:300101 BMX skos:exactMatch hgnc.symbol:1079 semapv:UnspecifiedMatching -OMIM:300101 BMX skos:exactMatch hgnc.symbol:BMX semapv:UnspecifiedMatching -OMIM:300101 BMX skos:exactMatch ncbigene:660 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch UMLS:C1538687 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:24887 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:PNPLA4 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch ncbigene:8228 semapv:UnspecifiedMatching -OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:630 semapv:UnspecifiedMatching -OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:SHROOM2 semapv:UnspecifiedMatching -OMIM:300103 SHROOM2 skos:exactMatch ncbigene:357 semapv:UnspecifiedMatching -OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:4226 semapv:UnspecifiedMatching -OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:GDI1 semapv:UnspecifiedMatching -OMIM:300104 GDI1 skos:exactMatch ncbigene:2664 semapv:UnspecifiedMatching -OMIM:300105 SMS skos:exactMatch hgnc.symbol:11123 semapv:UnspecifiedMatching -OMIM:300105 SMS skos:exactMatch hgnc.symbol:SMS semapv:UnspecifiedMatching -OMIM:300105 SMS skos:exactMatch ncbigene:6611 semapv:UnspecifiedMatching -OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:1113 semapv:UnspecifiedMatching -OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:BRS3 semapv:UnspecifiedMatching -OMIM:300107 BRS3 skos:exactMatch ncbigene:680 semapv:UnspecifiedMatching -OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:2877 semapv:UnspecifiedMatching -OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:DIAPH2 semapv:UnspecifiedMatching -OMIM:300108 DIAPH2 skos:exactMatch ncbigene:1730 semapv:UnspecifiedMatching -OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:9243 semapv:UnspecifiedMatching -OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:PPEF1 semapv:UnspecifiedMatching -OMIM:300109 PPEF1 skos:exactMatch ncbigene:5475 semapv:UnspecifiedMatching -OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:1393 semapv:UnspecifiedMatching -OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:CACNA1F semapv:UnspecifiedMatching -OMIM:300110 CACNA1F skos:exactMatch ncbigene:778 semapv:UnspecifiedMatching -OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:6645 semapv:UnspecifiedMatching -OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:PRICKLE3 semapv:UnspecifiedMatching -OMIM:300111 PRICKLE3 skos:exactMatch ncbigene:4007 semapv:UnspecifiedMatching -OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:9087 semapv:UnspecifiedMatching -OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:PLP2 semapv:UnspecifiedMatching -OMIM:300112 PLP2 skos:exactMatch ncbigene:5355 semapv:UnspecifiedMatching -OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:7423 semapv:UnspecifiedMatching -OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:MTCP1 semapv:UnspecifiedMatching -OMIM:300116 MTCP1 skos:exactMatch ncbigene:4515 semapv:UnspecifiedMatching -OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:7639 semapv:UnspecifiedMatching -OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:NAP1L3 semapv:UnspecifiedMatching -OMIM:300117 NAP1L3 skos:exactMatch ncbigene:4675 semapv:UnspecifiedMatching -OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:676 semapv:UnspecifiedMatching -OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:ARHGAP6 semapv:UnspecifiedMatching -OMIM:300118 ARHGAP6 skos:exactMatch ncbigene:395 semapv:UnspecifiedMatching -OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:5974 semapv:UnspecifiedMatching -OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:IL13RA1 semapv:UnspecifiedMatching -OMIM:300119 IL13RA1 skos:exactMatch ncbigene:3597 semapv:UnspecifiedMatching -OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:2568 semapv:UnspecifiedMatching -OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:MAMLD1 semapv:UnspecifiedMatching -OMIM:300120 MAMLD1 skos:exactMatch ncbigene:10046 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch UMLS:C1413938 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch UMLS:C1848070 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch UMLS:C4551968 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch hgnc.symbol:2714 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch hgnc.symbol:DCX semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch ncbigene:1641 semapv:UnspecifiedMatching -OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:30189 semapv:UnspecifiedMatching -OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:GTPBP6 semapv:UnspecifiedMatching -OMIM:300124 GTPBP6 skos:exactMatch ncbigene:8225 semapv:UnspecifiedMatching -OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:2890 semapv:UnspecifiedMatching -OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:DKC1 semapv:UnspecifiedMatching -OMIM:300126 DKC1 skos:exactMatch ncbigene:1736 semapv:UnspecifiedMatching -OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:8148 semapv:UnspecifiedMatching -OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:OPHN1 semapv:UnspecifiedMatching -OMIM:300127 OPHN1 skos:exactMatch ncbigene:4983 semapv:UnspecifiedMatching -OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:12637 semapv:UnspecifiedMatching -OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:KDM6A semapv:UnspecifiedMatching -OMIM:300128 KDM6A skos:exactMatch ncbigene:7403 semapv:UnspecifiedMatching -OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:5975 semapv:UnspecifiedMatching -OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:IL13RA2 semapv:UnspecifiedMatching -OMIM:300130 IL13RA2 skos:exactMatch ncbigene:3598 semapv:UnspecifiedMatching -OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:9091 semapv:UnspecifiedMatching -OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:PLS3 semapv:UnspecifiedMatching -OMIM:300131 PLS3 skos:exactMatch ncbigene:5358 semapv:UnspecifiedMatching -OMIM:300132 TRO skos:exactMatch hgnc.symbol:12326 semapv:UnspecifiedMatching -OMIM:300132 TRO skos:exactMatch hgnc.symbol:TRO semapv:UnspecifiedMatching -OMIM:300132 TRO skos:exactMatch ncbigene:7216 semapv:UnspecifiedMatching -OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:12662 semapv:UnspecifiedMatching -OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:VBP1 semapv:UnspecifiedMatching -OMIM:300133 VBP1 skos:exactMatch ncbigene:7411 semapv:UnspecifiedMatching -OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:3076 semapv:UnspecifiedMatching -OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:DUSP9 semapv:UnspecifiedMatching -OMIM:300134 DUSP9 skos:exactMatch ncbigene:1852 semapv:UnspecifiedMatching -OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:48 semapv:UnspecifiedMatching -OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:ABCB7 semapv:UnspecifiedMatching -OMIM:300135 ABCB7 skos:exactMatch ncbigene:22 semapv:UnspecifiedMatching -OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching -OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:5948 semapv:UnspecifiedMatching -OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:IGSF1 semapv:UnspecifiedMatching -OMIM:300137 IGSF1 skos:exactMatch ncbigene:3547 semapv:UnspecifiedMatching -OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:2063 semapv:UnspecifiedMatching -OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:CLIC2 semapv:UnspecifiedMatching -OMIM:300138 CLIC2 skos:exactMatch ncbigene:1193 semapv:UnspecifiedMatching -OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:5461 semapv:UnspecifiedMatching -OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:IGBP1 semapv:UnspecifiedMatching -OMIM:300139 IGBP1 skos:exactMatch ncbigene:3476 semapv:UnspecifiedMatching -OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:8592 semapv:UnspecifiedMatching -OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:PAK3 semapv:UnspecifiedMatching -OMIM:300142 PAK3 skos:exactMatch ncbigene:5063 semapv:UnspecifiedMatching -OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:4336 semapv:UnspecifiedMatching -OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:GLUD2 semapv:UnspecifiedMatching -OMIM:300144 GLUD2 skos:exactMatch ncbigene:2747 semapv:UnspecifiedMatching -OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:12823 semapv:UnspecifiedMatching -OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:XPNPEP2 semapv:UnspecifiedMatching -OMIM:300145 XPNPEP2 skos:exactMatch ncbigene:7512 semapv:UnspecifiedMatching -OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:1483 semapv:UnspecifiedMatching -OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:CAPN6 semapv:UnspecifiedMatching -OMIM:300146 CAPN6 skos:exactMatch ncbigene:827 semapv:UnspecifiedMatching -OMIM:300148 mehmo syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching -OMIM:300148 mehmo syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching -OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:1986 semapv:UnspecifiedMatching -OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:CITED1 semapv:UnspecifiedMatching -OMIM:300149 CITED1 skos:exactMatch ncbigene:4435 semapv:UnspecifiedMatching -OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:10991 semapv:UnspecifiedMatching -OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:SLC25A5 semapv:UnspecifiedMatching -OMIM:300150 SLC25A5 skos:exactMatch ncbigene:292 semapv:UnspecifiedMatching -OMIM:300151 SLC25A6 skos:exactMatch hgnc.symbol:10992 semapv:UnspecifiedMatching -OMIM:300151 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching -OMIM:300151 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching -OMIM:300152 MAGEB3 skos:exactMatch hgnc.symbol:6810 semapv:UnspecifiedMatching -OMIM:300152 MAGEB3 skos:exactMatch hgnc.symbol:MAGEB3 semapv:UnspecifiedMatching -OMIM:300152 MAGEB3 skos:exactMatch ncbigene:4114 semapv:UnspecifiedMatching -OMIM:300153 MAGEB4 skos:exactMatch hgnc.symbol:6811 semapv:UnspecifiedMatching -OMIM:300153 MAGEB4 skos:exactMatch hgnc.symbol:MAGEB4 semapv:UnspecifiedMatching -OMIM:300153 MAGEB4 skos:exactMatch ncbigene:4115 semapv:UnspecifiedMatching -OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:14865 semapv:UnspecifiedMatching -OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:ESX1 semapv:UnspecifiedMatching -OMIM:300154 ESX1L skos:exactMatch ncbigene:80712 semapv:UnspecifiedMatching -OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:2491 semapv:UnspecifiedMatching -OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:CTAG1B semapv:UnspecifiedMatching -OMIM:300156 CTAG1B skos:exactMatch ncbigene:1485 semapv:UnspecifiedMatching -OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:3571 semapv:UnspecifiedMatching -OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:ACSL4 semapv:UnspecifiedMatching -OMIM:300157 ACSL4 skos:exactMatch ncbigene:2182 semapv:UnspecifiedMatching -OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:11881 semapv:UnspecifiedMatching -OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:TMSB4X semapv:UnspecifiedMatching -OMIM:300159 TMSB4X skos:exactMatch ncbigene:7114 semapv:UnspecifiedMatching -OMIM:300160 DDX3X skos:exactMatch UMLS:C1413962 semapv:UnspecifiedMatching -OMIM:300160 DDX3X skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching -OMIM:300160 DDX3X skos:exactMatch hgnc.symbol:2745 semapv:UnspecifiedMatching -OMIM:300160 DDX3X skos:exactMatch hgnc.symbol:DDX3X semapv:UnspecifiedMatching -OMIM:300160 DDX3X skos:exactMatch ncbigene:1654 semapv:UnspecifiedMatching -OMIM:300161 EIF2S3 skos:exactMatch hgnc.symbol:3267 semapv:UnspecifiedMatching -OMIM:300161 EIF2S3 skos:exactMatch hgnc.symbol:EIF2S3 semapv:UnspecifiedMatching -OMIM:300161 EIF2S3 skos:exactMatch ncbigene:1968 semapv:UnspecifiedMatching -OMIM:300162 ASMTL skos:exactMatch hgnc.symbol:751 semapv:UnspecifiedMatching -OMIM:300162 ASMTL skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching -OMIM:300162 ASMTL skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C1414612 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C2678055 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C2678061 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C2749106 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C4225599 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch UMLS:C4225600 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch hgnc.symbol:3702 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch hgnc.symbol:FHL1 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch ncbigene:2273 semapv:UnspecifiedMatching -OMIM:300164 INE1 skos:exactMatch hgnc.symbol:6060 semapv:UnspecifiedMatching -OMIM:300164 INE1 skos:exactMatch hgnc.symbol:INE1 semapv:UnspecifiedMatching -OMIM:300164 INE1 skos:exactMatch ncbigene:8552 semapv:UnspecifiedMatching -OMIM:300165 INE2 skos:exactMatch hgnc.symbol:6061 semapv:UnspecifiedMatching -OMIM:300165 INE2 skos:exactMatch hgnc.symbol:INE2 semapv:UnspecifiedMatching -OMIM:300165 INE2 skos:exactMatch ncbigene:8551 semapv:UnspecifiedMatching -OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching -OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching -OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch UMLS:C1846265 semapv:UnspecifiedMatching -OMIM:300167 HEPH skos:exactMatch hgnc.symbol:4866 semapv:UnspecifiedMatching -OMIM:300167 HEPH skos:exactMatch hgnc.symbol:HEPH semapv:UnspecifiedMatching -OMIM:300167 HEPH skos:exactMatch ncbigene:9843 semapv:UnspecifiedMatching -OMIM:300168 GPC4 skos:exactMatch UMLS:C1415196 semapv:UnspecifiedMatching -OMIM:300168 GPC4 skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching -OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:4452 semapv:UnspecifiedMatching -OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:GPC4 semapv:UnspecifiedMatching -OMIM:300168 GPC4 skos:exactMatch ncbigene:2239 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C1826618 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch UMLS:C5231520 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:8768 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:AIFM1 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch ncbigene:9131 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1413833 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:2567 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:OFD1 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch ncbigene:8481 semapv:UnspecifiedMatching -OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:7449 semapv:UnspecifiedMatching -OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:MTMR1 semapv:UnspecifiedMatching -OMIM:300171 MTMR1 skos:exactMatch ncbigene:8776 semapv:UnspecifiedMatching -OMIM:300172 CASK skos:exactMatch hgnc.symbol:1497 semapv:UnspecifiedMatching -OMIM:300172 CASK skos:exactMatch hgnc.symbol:CASK semapv:UnspecifiedMatching -OMIM:300172 CASK skos:exactMatch ncbigene:8573 semapv:UnspecifiedMatching -OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:6800 semapv:UnspecifiedMatching -OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:MAGEA2 semapv:UnspecifiedMatching -OMIM:300173 MAGEA2 skos:exactMatch ncbigene:4101 semapv:UnspecifiedMatching -OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:6801 semapv:UnspecifiedMatching -OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:MAGEA3 semapv:UnspecifiedMatching -OMIM:300174 MAGEA3 skos:exactMatch ncbigene:4102 semapv:UnspecifiedMatching -OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:6802 semapv:UnspecifiedMatching -OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:MAGEA4 semapv:UnspecifiedMatching -OMIM:300175 MAGEA4 skos:exactMatch ncbigene:4103 semapv:UnspecifiedMatching -OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:6804 semapv:UnspecifiedMatching -OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:MAGEA6 semapv:UnspecifiedMatching -OMIM:300176 MAGEA6 skos:exactMatch ncbigene:4105 semapv:UnspecifiedMatching -OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:6799 semapv:UnspecifiedMatching -OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:MAGEA12 semapv:UnspecifiedMatching -OMIM:300177 MAGEA12 skos:exactMatch ncbigene:4111 semapv:UnspecifiedMatching -OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:447 semapv:UnspecifiedMatching -OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:ZBED1 semapv:UnspecifiedMatching -OMIM:300178 ZBED1 skos:exactMatch ncbigene:9189 semapv:UnspecifiedMatching -OMIM:300180 ARSL skos:exactMatch hgnc.symbol:719 semapv:UnspecifiedMatching -OMIM:300180 ARSL skos:exactMatch hgnc.symbol:ARSL semapv:UnspecifiedMatching -OMIM:300180 ARSL skos:exactMatch ncbigene:415 semapv:UnspecifiedMatching -OMIM:300181 TSIX skos:exactMatch hgnc.symbol:12377 semapv:UnspecifiedMatching -OMIM:300181 TSIX skos:exactMatch hgnc.symbol:TSIX semapv:UnspecifiedMatching -OMIM:300181 TSIX skos:exactMatch ncbigene:9383 semapv:UnspecifiedMatching -OMIM:300182 MED14 skos:exactMatch hgnc.symbol:2370 semapv:UnspecifiedMatching -OMIM:300182 MED14 skos:exactMatch hgnc.symbol:MED14 semapv:UnspecifiedMatching -OMIM:300182 MED14 skos:exactMatch ncbigene:9282 semapv:UnspecifiedMatching -OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:374 semapv:UnspecifiedMatching -OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:AKAP4 semapv:UnspecifiedMatching -OMIM:300185 AKAP4 skos:exactMatch ncbigene:8852 semapv:UnspecifiedMatching -OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:3250 semapv:UnspecifiedMatching -OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:EIF1AX semapv:UnspecifiedMatching -OMIM:300186 EIF1AX skos:exactMatch ncbigene:1964 semapv:UnspecifiedMatching -OMIM:300187 SRPX skos:exactMatch hgnc.symbol:11309 semapv:UnspecifiedMatching -OMIM:300187 SRPX skos:exactMatch hgnc.symbol:SRPX semapv:UnspecifiedMatching -OMIM:300187 SRPX skos:exactMatch ncbigene:8406 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch UMLS:C0220769 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch UMLS:C1537677 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch hgnc.symbol:11957 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch hgnc.symbol:MED12 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch ncbigene:9968 semapv:UnspecifiedMatching -OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:2902 semapv:UnspecifiedMatching -OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:DLG3 semapv:UnspecifiedMatching -OMIM:300189 DLG3 skos:exactMatch ncbigene:1741 semapv:UnspecifiedMatching -OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:10823 semapv:UnspecifiedMatching -OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:SH3BGRL semapv:UnspecifiedMatching -OMIM:300190 SH3BGRL skos:exactMatch ncbigene:6451 semapv:UnspecifiedMatching -OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:11858 semapv:UnspecifiedMatching -OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:TSPAN6 semapv:UnspecifiedMatching -OMIM:300191 TSPAN6 skos:exactMatch ncbigene:7105 semapv:UnspecifiedMatching -OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:11336 semapv:UnspecifiedMatching -OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:SSX2 semapv:UnspecifiedMatching -OMIM:300192 SSX2 skos:exactMatch ncbigene:6757 semapv:UnspecifiedMatching -OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:5004 semapv:UnspecifiedMatching -OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:HMGB3 semapv:UnspecifiedMatching -OMIM:300193 HMGB3 skos:exactMatch ncbigene:3149 semapv:UnspecifiedMatching -OMIM:300194 amme complex skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching -OMIM:300194 amme complex skos:exactMatch UMLS:C1846242 semapv:UnspecifiedMatching -OMIM:300195 AMMECR1 skos:exactMatch hgnc.symbol:467 semapv:UnspecifiedMatching -OMIM:300195 AMMECR1 skos:exactMatch hgnc.symbol:AMMECR1 semapv:UnspecifiedMatching -OMIM:300195 AMMECR1 skos:exactMatch ncbigene:9949 semapv:UnspecifiedMatching -OMIM:300196 TBL1X skos:exactMatch hgnc.symbol:11585 semapv:UnspecifiedMatching -OMIM:300196 TBL1X skos:exactMatch hgnc.symbol:TBL1X semapv:UnspecifiedMatching -OMIM:300196 TBL1X skos:exactMatch ncbigene:6907 semapv:UnspecifiedMatching -OMIM:300197 ATP6AP1 skos:exactMatch UMLS:C1412687 semapv:UnspecifiedMatching -OMIM:300197 ATP6AP1 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching -OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:868 semapv:UnspecifiedMatching -OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:ATP6AP1 semapv:UnspecifiedMatching -OMIM:300197 ATP6AP1 skos:exactMatch ncbigene:537 semapv:UnspecifiedMatching -OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:4700 semapv:UnspecifiedMatching -OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:GYG2 semapv:UnspecifiedMatching -OMIM:300198 GYG2 skos:exactMatch ncbigene:8908 semapv:UnspecifiedMatching -OMIM:300199 RBMX skos:exactMatch hgnc.symbol:9910 semapv:UnspecifiedMatching -OMIM:300199 RBMX skos:exactMatch hgnc.symbol:RBMX semapv:UnspecifiedMatching -OMIM:300199 RBMX skos:exactMatch ncbigene:27316 semapv:UnspecifiedMatching -OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:17451 semapv:UnspecifiedMatching -OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:CYSLTR1 semapv:UnspecifiedMatching -OMIM:300201 CYSLTR1 skos:exactMatch ncbigene:10800 semapv:UnspecifiedMatching -OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:23068 semapv:UnspecifiedMatching -OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:TRAPPC2 semapv:UnspecifiedMatching -OMIM:300202 TRAPPC2 skos:exactMatch ncbigene:6399 semapv:UnspecifiedMatching -OMIM:300203 CDKL5 skos:exactMatch UMLS:C1420484 semapv:UnspecifiedMatching -OMIM:300203 CDKL5 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching -OMIM:300203 CDKL5 skos:exactMatch hgnc.symbol:11411 semapv:UnspecifiedMatching -OMIM:300203 CDKL5 skos:exactMatch hgnc.symbol:CDKL5 semapv:UnspecifiedMatching -OMIM:300203 CDKL5 skos:exactMatch ncbigene:6792 semapv:UnspecifiedMatching -OMIM:300204 MID2 skos:exactMatch hgnc.symbol:7096 semapv:UnspecifiedMatching -OMIM:300204 MID2 skos:exactMatch hgnc.symbol:MID2 semapv:UnspecifiedMatching -OMIM:300204 MID2 skos:exactMatch ncbigene:11043 semapv:UnspecifiedMatching -OMIM:300205 EBP skos:exactMatch hgnc.symbol:3133 semapv:UnspecifiedMatching -OMIM:300205 EBP skos:exactMatch hgnc.symbol:EBP semapv:UnspecifiedMatching -OMIM:300205 EBP skos:exactMatch ncbigene:10682 semapv:UnspecifiedMatching -OMIM:300206 IL1RAPL1 skos:exactMatch hgnc.symbol:5996 semapv:UnspecifiedMatching -OMIM:300206 IL1RAPL1 skos:exactMatch hgnc.symbol:IL1RAPL1 semapv:UnspecifiedMatching -OMIM:300206 IL1RAPL1 skos:exactMatch ncbigene:11141 semapv:UnspecifiedMatching -OMIM:300207 GPR50 skos:exactMatch hgnc.symbol:4506 semapv:UnspecifiedMatching -OMIM:300207 GPR50 skos:exactMatch hgnc.symbol:GPR50 semapv:UnspecifiedMatching -OMIM:300207 GPR50 skos:exactMatch ncbigene:9248 semapv:UnspecifiedMatching -OMIM:300208 SCML2 skos:exactMatch UMLS:C1419852 semapv:UnspecifiedMatching -OMIM:300208 SCML2 skos:exactMatch hgnc.symbol:10581 semapv:UnspecifiedMatching -OMIM:300208 SCML2 skos:exactMatch hgnc.symbol:SCML2 semapv:UnspecifiedMatching -OMIM:300208 SCML2 skos:exactMatch ncbigene:10389 semapv:UnspecifiedMatching -OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch Orphanet:79022 semapv:UnspecifiedMatching -OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching -OMIM:300212 RGN skos:exactMatch hgnc.symbol:9989 semapv:UnspecifiedMatching -OMIM:300212 RGN skos:exactMatch hgnc.symbol:RGN semapv:UnspecifiedMatching -OMIM:300212 RGN skos:exactMatch ncbigene:9104 semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:2569 semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:RTL8C semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch ncbigene:8933 semapv:UnspecifiedMatching -OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:9105 semapv:UnspecifiedMatching -OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:PLXNB3 semapv:UnspecifiedMatching -OMIM:300214 PLXNB3 skos:exactMatch ncbigene:5365 semapv:UnspecifiedMatching -OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching -OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching -OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:9835 semapv:UnspecifiedMatching -OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:RAI2 semapv:UnspecifiedMatching -OMIM:300217 RAI2 skos:exactMatch ncbigene:10742 semapv:UnspecifiedMatching -OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:6173 semapv:UnspecifiedMatching -OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:ITM2A semapv:UnspecifiedMatching -OMIM:300222 ITM2A skos:exactMatch ncbigene:9452 semapv:UnspecifiedMatching -OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:6812 semapv:UnspecifiedMatching -OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:MAGEC1 semapv:UnspecifiedMatching -OMIM:300223 MAGEC1 skos:exactMatch ncbigene:9947 semapv:UnspecifiedMatching -OMIM:300224 MAGED1 skos:exactMatch hgnc.symbol:6813 semapv:UnspecifiedMatching -OMIM:300224 MAGED1 skos:exactMatch hgnc.symbol:MAGED1 semapv:UnspecifiedMatching -OMIM:300224 MAGED1 skos:exactMatch ncbigene:9500 semapv:UnspecifiedMatching -OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:7889 semapv:UnspecifiedMatching -OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:NOX1 semapv:UnspecifiedMatching -OMIM:300225 NOX1 skos:exactMatch ncbigene:27035 semapv:UnspecifiedMatching -OMIM:300226 SMPX skos:exactMatch hgnc.symbol:11122 semapv:UnspecifiedMatching -OMIM:300226 SMPX skos:exactMatch hgnc.symbol:SMPX semapv:UnspecifiedMatching -OMIM:300226 SMPX skos:exactMatch ncbigene:23676 semapv:UnspecifiedMatching -OMIM:300227 SCML1 skos:exactMatch UMLS:C1419851 semapv:UnspecifiedMatching -OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:10580 semapv:UnspecifiedMatching -OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:SCML1 semapv:UnspecifiedMatching -OMIM:300227 SCML1 skos:exactMatch ncbigene:6322 semapv:UnspecifiedMatching -OMIM:300229 VCX skos:exactMatch hgnc.symbol:12667 semapv:UnspecifiedMatching -OMIM:300229 VCX skos:exactMatch hgnc.symbol:VCX semapv:UnspecifiedMatching -OMIM:300229 VCX skos:exactMatch ncbigene:26609 semapv:UnspecifiedMatching -OMIM:300230 CA5B skos:exactMatch hgnc.symbol:1378 semapv:UnspecifiedMatching -OMIM:300230 CA5B skos:exactMatch hgnc.symbol:CA5B semapv:UnspecifiedMatching -OMIM:300230 CA5B skos:exactMatch ncbigene:11238 semapv:UnspecifiedMatching -OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:11079 semapv:UnspecifiedMatching -OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:SLC9A6 semapv:UnspecifiedMatching -OMIM:300231 SLC9A6 skos:exactMatch ncbigene:10479 semapv:UnspecifiedMatching -OMIM:300234 UXT skos:exactMatch hgnc.symbol:12641 semapv:UnspecifiedMatching -OMIM:300234 UXT skos:exactMatch hgnc.symbol:UXT semapv:UnspecifiedMatching -OMIM:300234 UXT skos:exactMatch ncbigene:8409 semapv:UnspecifiedMatching -OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:13198 semapv:UnspecifiedMatching -OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:ZXDA semapv:UnspecifiedMatching -OMIM:300235 ZXDA skos:exactMatch ncbigene:7789 semapv:UnspecifiedMatching -OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:13199 semapv:UnspecifiedMatching -OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:ZXDB semapv:UnspecifiedMatching -OMIM:300236 ZXDB skos:exactMatch ncbigene:158586 semapv:UnspecifiedMatching -OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:11616 semapv:UnspecifiedMatching -OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:TCEAL1 semapv:UnspecifiedMatching -OMIM:300237 TCEAL1 skos:exactMatch ncbigene:9338 semapv:UnspecifiedMatching -OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:3235 semapv:UnspecifiedMatching -OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:EGFL6 semapv:UnspecifiedMatching -OMIM:300239 EGFL6 skos:exactMatch ncbigene:25975 semapv:UnspecifiedMatching -OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:4490 semapv:UnspecifiedMatching -OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:GPR34 semapv:UnspecifiedMatching -OMIM:300241 GPR34 skos:exactMatch ncbigene:2857 semapv:UnspecifiedMatching -OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:10984 semapv:UnspecifiedMatching -OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:SLC25A14 semapv:UnspecifiedMatching -OMIM:300242 SLC25A14 skos:exactMatch ncbigene:9016 semapv:UnspecifiedMatching -OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch Orphanet:85278 semapv:UnspecifiedMatching -OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch UMLS:C2678194 semapv:UnspecifiedMatching -OMIM:300244 terminal osseous dysplasia skos:exactMatch Orphanet:88630 semapv:UnspecifiedMatching -OMIM:300244 terminal osseous dysplasia skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching -OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:8656 semapv:UnspecifiedMatching -OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:PCDH11X semapv:UnspecifiedMatching -OMIM:300246 PCDH11X skos:exactMatch ncbigene:27328 semapv:UnspecifiedMatching -OMIM:300247 BMP15 skos:exactMatch hgnc.symbol:1068 semapv:UnspecifiedMatching -OMIM:300247 BMP15 skos:exactMatch hgnc.symbol:BMP15 semapv:UnspecifiedMatching -OMIM:300247 BMP15 skos:exactMatch ncbigene:9210 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C1416380 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C4749069 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C5394562 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch UMLS:C5394563 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:5961 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:IKBKG semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch ncbigene:8517 semapv:UnspecifiedMatching -OMIM:300249 TIMM17B skos:exactMatch UMLS:C1424892 semapv:UnspecifiedMatching -OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:17310 semapv:UnspecifiedMatching -OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:TIMM17B semapv:UnspecifiedMatching -OMIM:300249 TIMM17B skos:exactMatch ncbigene:10245 semapv:UnspecifiedMatching -OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:8992 semapv:UnspecifiedMatching -OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:PIN4 semapv:UnspecifiedMatching -OMIM:300252 PIN4 skos:exactMatch ncbigene:5303 semapv:UnspecifiedMatching -OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:18186 semapv:UnspecifiedMatching -OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:GPR173 semapv:UnspecifiedMatching -OMIM:300253 GPR173 skos:exactMatch ncbigene:54328 semapv:UnspecifiedMatching -OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:11479 semapv:UnspecifiedMatching -OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:SUV39H1 semapv:UnspecifiedMatching -OMIM:300254 SUV39H1 skos:exactMatch ncbigene:6839 semapv:UnspecifiedMatching -OMIM:300255 OGT skos:exactMatch hgnc.symbol:8127 semapv:UnspecifiedMatching -OMIM:300255 OGT skos:exactMatch hgnc.symbol:OGT semapv:UnspecifiedMatching -OMIM:300255 OGT skos:exactMatch ncbigene:8473 semapv:UnspecifiedMatching -OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:4800 semapv:UnspecifiedMatching -OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:HSD17B10 semapv:UnspecifiedMatching -OMIM:300256 HSD17B10 skos:exactMatch ncbigene:3028 semapv:UnspecifiedMatching -OMIM:300257 danon disease skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching -OMIM:300257 danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching -OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching -OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching -OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching -OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching -OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:12509 semapv:UnspecifiedMatching -OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:UBQLN2 semapv:UnspecifiedMatching -OMIM:300264 UBQLN2 skos:exactMatch ncbigene:29978 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C1421583 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch UMLS:C4016468 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:12874 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:ZIC3 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch ncbigene:7547 semapv:UnspecifiedMatching -OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:685 semapv:UnspecifiedMatching -OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:ARHGEF6 semapv:UnspecifiedMatching -OMIM:300267 ARHGEF6 skos:exactMatch ncbigene:9459 semapv:UnspecifiedMatching -OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:13315 semapv:UnspecifiedMatching -OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:HDAC8 semapv:UnspecifiedMatching -OMIM:300269 HDAC8 skos:exactMatch ncbigene:55869 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch UMLS:C1333895 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch UMLS:C3275476 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:14064 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:HDAC6 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch ncbigene:10013 semapv:UnspecifiedMatching -OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:13398 semapv:UnspecifiedMatching -OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:NSDHL semapv:UnspecifiedMatching -OMIM:300275 NSDHL skos:exactMatch ncbigene:50814 semapv:UnspecifiedMatching -OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:17756 semapv:UnspecifiedMatching -OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:EDA2R semapv:UnspecifiedMatching -OMIM:300276 EDA2R skos:exactMatch ncbigene:60401 semapv:UnspecifiedMatching -OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:5997 semapv:UnspecifiedMatching -OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:IL1RAPL2 semapv:UnspecifiedMatching -OMIM:300277 IL1RAPL2 skos:exactMatch ncbigene:26280 semapv:UnspecifiedMatching -OMIM:300278 NYX skos:exactMatch hgnc.symbol:8082 semapv:UnspecifiedMatching -OMIM:300278 NYX skos:exactMatch hgnc.symbol:NYX semapv:UnspecifiedMatching -OMIM:300278 NYX skos:exactMatch ncbigene:60506 semapv:UnspecifiedMatching -OMIM:300280 uruguay faciocardiomusculoskeletal syndrome skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching -OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:6237 semapv:UnspecifiedMatching -OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:KCND1 semapv:UnspecifiedMatching -OMIM:300281 KCND1 skos:exactMatch ncbigene:3750 semapv:UnspecifiedMatching -OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:2259 semapv:UnspecifiedMatching -OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:ENOX2 semapv:UnspecifiedMatching -OMIM:300282 ENOX2 skos:exactMatch ncbigene:10495 semapv:UnspecifiedMatching -OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:6112 semapv:UnspecifiedMatching -OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:IRAK1 semapv:UnspecifiedMatching -OMIM:300283 IRAK1 skos:exactMatch ncbigene:3654 semapv:UnspecifiedMatching -OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:9792 semapv:UnspecifiedMatching -OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:RAB9A semapv:UnspecifiedMatching -OMIM:300284 RAB9 skos:exactMatch ncbigene:9367 semapv:UnspecifiedMatching -OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:14090 semapv:UnspecifiedMatching -OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:RAB9B semapv:UnspecifiedMatching -OMIM:300285 RAB9B skos:exactMatch ncbigene:51209 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch UMLS:C1416663 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:6351 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:KLF8 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch ncbigene:11279 semapv:UnspecifiedMatching -OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:4108 semapv:UnspecifiedMatching -OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:PAGE4 semapv:UnspecifiedMatching -OMIM:300287 PAGE4 skos:exactMatch ncbigene:9506 semapv:UnspecifiedMatching -OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:4107 semapv:UnspecifiedMatching -OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:PAGE1 semapv:UnspecifiedMatching -OMIM:300288 PAGE1 skos:exactMatch ncbigene:8712 semapv:UnspecifiedMatching -OMIM:300289 XAGE1B skos:exactMatch hgnc.symbol:25400 semapv:UnspecifiedMatching -OMIM:300289 XAGE1B skos:exactMatch hgnc.symbol:XAGE1B semapv:UnspecifiedMatching -OMIM:300289 XAGE1B skos:exactMatch ncbigene:653067 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:69088 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1845919 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846006 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching -OMIM:300292 FOXP3 skos:exactMatch UMLS:C0342288 semapv:UnspecifiedMatching -OMIM:300292 FOXP3 skos:exactMatch UMLS:C1416467 semapv:UnspecifiedMatching -OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:6106 semapv:UnspecifiedMatching -OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:FOXP3 semapv:UnspecifiedMatching -OMIM:300292 FOXP3 skos:exactMatch ncbigene:50943 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C1423501 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3806745 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3887525 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C4746956 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:15455 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:MBTPS2 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch ncbigene:51360 semapv:UnspecifiedMatching -OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:8987 semapv:UnspecifiedMatching -OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:PIM2 semapv:UnspecifiedMatching -OMIM:300295 PIM2 skos:exactMatch ncbigene:11040 semapv:UnspecifiedMatching -OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:9044 semapv:UnspecifiedMatching -OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:PLAC1 semapv:UnspecifiedMatching -OMIM:300296 PLAC1 skos:exactMatch ncbigene:10761 semapv:UnspecifiedMatching -OMIM:300297 APLN skos:exactMatch hgnc.symbol:16665 semapv:UnspecifiedMatching -OMIM:300297 APLN skos:exactMatch hgnc.symbol:APLN semapv:UnspecifiedMatching -OMIM:300297 APLN skos:exactMatch ncbigene:8862 semapv:UnspecifiedMatching -OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:20439 semapv:UnspecifiedMatching -OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:UPF3B semapv:UnspecifiedMatching -OMIM:300298 UPF3B skos:exactMatch ncbigene:65109 semapv:UnspecifiedMatching -OMIM:300300 BTK skos:exactMatch hgnc.symbol:1133 semapv:UnspecifiedMatching -OMIM:300300 BTK skos:exactMatch hgnc.symbol:BTK semapv:UnspecifiedMatching -OMIM:300300 BTK skos:exactMatch ncbigene:695 semapv:UnspecifiedMatching -OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:11694 semapv:UnspecifiedMatching -OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:DYNLT3 semapv:UnspecifiedMatching -OMIM:300302 DYNLT3 skos:exactMatch ncbigene:6990 semapv:UnspecifiedMatching -OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:10435 semapv:UnspecifiedMatching -OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:RPS6KA6 semapv:UnspecifiedMatching -OMIM:300303 RPS6KA6 skos:exactMatch ncbigene:27330 semapv:UnspecifiedMatching -OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:2555 semapv:UnspecifiedMatching -OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:CUL4B semapv:UnspecifiedMatching -OMIM:300304 CUL4B skos:exactMatch ncbigene:8450 semapv:UnspecifiedMatching -OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:11218 semapv:UnspecifiedMatching -OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:SPANXA1 semapv:UnspecifiedMatching -OMIM:300305 SPANXA1 skos:exactMatch ncbigene:30014 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch UMLS:C1420611 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch UMLS:C1844830 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch UMLS:C1844831 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch UMLS:C1844862 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:11600 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:TBX22 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch ncbigene:50945 semapv:UnspecifiedMatching -OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:3987 semapv:UnspecifiedMatching -OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:FTHL17 semapv:UnspecifiedMatching -OMIM:300308 FTHL17 skos:exactMatch ncbigene:53940 semapv:UnspecifiedMatching -OMIM:300309 USP26 skos:exactMatch hgnc.symbol:13485 semapv:UnspecifiedMatching -OMIM:300309 USP26 skos:exactMatch hgnc.symbol:USP26 semapv:UnspecifiedMatching -OMIM:300309 USP26 skos:exactMatch ncbigene:83844 semapv:UnspecifiedMatching -OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:11733 semapv:UnspecifiedMatching -OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:TEX11 semapv:UnspecifiedMatching -OMIM:300311 TEX11 skos:exactMatch ncbigene:56159 semapv:UnspecifiedMatching -OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:11735 semapv:UnspecifiedMatching -OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:TEX13A semapv:UnspecifiedMatching -OMIM:300312 TEX13A skos:exactMatch ncbigene:56157 semapv:UnspecifiedMatching -OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:11736 semapv:UnspecifiedMatching -OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:TEX13B semapv:UnspecifiedMatching -OMIM:300313 TEX13B skos:exactMatch ncbigene:56156 semapv:UnspecifiedMatching -OMIM:300314 TAF7L skos:exactMatch UMLS:C1420574 semapv:UnspecifiedMatching -OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:11548 semapv:UnspecifiedMatching -OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:TAF7L semapv:UnspecifiedMatching -OMIM:300314 TAF7L skos:exactMatch ncbigene:54457 semapv:UnspecifiedMatching -OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:8072 semapv:UnspecifiedMatching -OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:NXF2 semapv:UnspecifiedMatching -OMIM:300315 NXF2 skos:exactMatch ncbigene:56001 semapv:UnspecifiedMatching -OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:8073 semapv:UnspecifiedMatching -OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:NXF3 semapv:UnspecifiedMatching -OMIM:300316 NXF3 skos:exactMatch ncbigene:56000 semapv:UnspecifiedMatching -OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:9963 semapv:UnspecifiedMatching -OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:REPS2 semapv:UnspecifiedMatching -OMIM:300317 REPS2 skos:exactMatch ncbigene:9185 semapv:UnspecifiedMatching -OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:8074 semapv:UnspecifiedMatching -OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:NXF4 semapv:UnspecifiedMatching -OMIM:300318 NXF4 skos:exactMatch ncbigene:55999 semapv:UnspecifiedMatching -OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:8075 semapv:UnspecifiedMatching -OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:NXF5 semapv:UnspecifiedMatching -OMIM:300319 NXF5 skos:exactMatch ncbigene:55998 semapv:UnspecifiedMatching -OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:18151 semapv:UnspecifiedMatching -OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:NXT2 semapv:UnspecifiedMatching -OMIM:300320 NXT2 skos:exactMatch ncbigene:55916 semapv:UnspecifiedMatching -OMIM:300322 lesch-nyhan syndrome skos:exactMatch Orphanet:510 semapv:UnspecifiedMatching -OMIM:300322 lesch-nyhan syndrome skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching -OMIM:300323 hyperuricemia, hprt-related skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching -OMIM:300323 hyperuricemia, hprt-related skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching -OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:11337 semapv:UnspecifiedMatching -OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:SSX3 semapv:UnspecifiedMatching -OMIM:300325 SSX3 skos:exactMatch ncbigene:10214 semapv:UnspecifiedMatching -OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:11338 semapv:UnspecifiedMatching -OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:SSX4 semapv:UnspecifiedMatching -OMIM:300326 SSX4 skos:exactMatch ncbigene:6759 semapv:UnspecifiedMatching -OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:11339 semapv:UnspecifiedMatching -OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:SSX5 semapv:UnspecifiedMatching -OMIM:300327 SSX5 skos:exactMatch ncbigene:6758 semapv:UnspecifiedMatching -OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:6241 semapv:UnspecifiedMatching -OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:KCNE5 semapv:UnspecifiedMatching -OMIM:300328 KCNE1L skos:exactMatch ncbigene:23630 semapv:UnspecifiedMatching -OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:16682 semapv:UnspecifiedMatching -OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:ZBTB33 semapv:UnspecifiedMatching -OMIM:300329 ZBTB33 skos:exactMatch ncbigene:10009 semapv:UnspecifiedMatching -OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:14331 semapv:UnspecifiedMatching -OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:SPANXC semapv:UnspecifiedMatching -OMIM:300330 SPANXC skos:exactMatch ncbigene:64663 semapv:UnspecifiedMatching -OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:6154 semapv:UnspecifiedMatching -OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:ITGB1BP2 semapv:UnspecifiedMatching -OMIM:300332 ITGB1BP2 skos:exactMatch ncbigene:26548 semapv:UnspecifiedMatching -OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:9773 semapv:UnspecifiedMatching -OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:RAB33A semapv:UnspecifiedMatching -OMIM:300333 RAB33A skos:exactMatch ncbigene:9363 semapv:UnspecifiedMatching -OMIM:300334 TRPC5 skos:exactMatch UMLS:C1421172 semapv:UnspecifiedMatching -OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:12337 semapv:UnspecifiedMatching -OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:TRPC5 semapv:UnspecifiedMatching -OMIM:300334 TRPC5 skos:exactMatch ncbigene:7224 semapv:UnspecifiedMatching -OMIM:300335 ACE2 skos:exactMatch UMLS:C1422064 semapv:UnspecifiedMatching -OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:13557 semapv:UnspecifiedMatching -OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:ACE2 semapv:UnspecifiedMatching -OMIM:300335 ACE2 skos:exactMatch ncbigene:59272 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch UMLS:C1422546 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch UMLS:C1845540 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch UMLS:C3151708 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:14289 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:NLGN3 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch ncbigene:54413 semapv:UnspecifiedMatching -OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:2149 semapv:UnspecifiedMatching -OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:CNGA2 semapv:UnspecifiedMatching -OMIM:300338 CNGA2 skos:exactMatch ncbigene:1260 semapv:UnspecifiedMatching -OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:13417 semapv:UnspecifiedMatching -OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:PPP2R3B semapv:UnspecifiedMatching -OMIM:300339 PPP2R3B skos:exactMatch ncbigene:28227 semapv:UnspecifiedMatching -OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:6803 semapv:UnspecifiedMatching -OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:MAGEA5P semapv:UnspecifiedMatching -OMIM:300340 MAGEA5 skos:exactMatch ncbigene:4104 semapv:UnspecifiedMatching -OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:6806 semapv:UnspecifiedMatching -OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:MAGEA8 semapv:UnspecifiedMatching -OMIM:300341 MAGEA8 skos:exactMatch ncbigene:4107 semapv:UnspecifiedMatching -OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:6807 semapv:UnspecifiedMatching -OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:MAGEA9 semapv:UnspecifiedMatching -OMIM:300342 MAGEA9 skos:exactMatch ncbigene:4108 semapv:UnspecifiedMatching -OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:6797 semapv:UnspecifiedMatching -OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:MAGEA10 semapv:UnspecifiedMatching -OMIM:300343 MAGEA10 skos:exactMatch ncbigene:4109 semapv:UnspecifiedMatching -OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:6798 semapv:UnspecifiedMatching -OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:MAGEA11 semapv:UnspecifiedMatching -OMIM:300344 MAGEA11 skos:exactMatch ncbigene:4110 semapv:UnspecifiedMatching -OMIM:300346 HTATSF1 skos:exactMatch UMLS:C1415794 semapv:UnspecifiedMatching -OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:5276 semapv:UnspecifiedMatching -OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:HTATSF1 semapv:UnspecifiedMatching -OMIM:300346 HTATSF1 skos:exactMatch ncbigene:27336 semapv:UnspecifiedMatching -OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:16972 semapv:UnspecifiedMatching -OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:DIAPH2-AS1 semapv:UnspecifiedMatching -OMIM:300347 DIAPH2AS1 skos:exactMatch ncbigene:10824 semapv:UnspecifiedMatching -OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:6355 semapv:UnspecifiedMatching -OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:KLHL4 semapv:UnspecifiedMatching -OMIM:300348 KLHL4 skos:exactMatch ncbigene:56062 semapv:UnspecifiedMatching -OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:14454 semapv:UnspecifiedMatching -OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:GABRQ semapv:UnspecifiedMatching -OMIM:300349 GABRQ skos:exactMatch ncbigene:55879 semapv:UnspecifiedMatching -OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:29861 semapv:UnspecifiedMatching -OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:CHRDL1 semapv:UnspecifiedMatching -OMIM:300350 CHRDL1 skos:exactMatch ncbigene:91851 semapv:UnspecifiedMatching -OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:17032 semapv:UnspecifiedMatching -OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:VSIG4 semapv:UnspecifiedMatching -OMIM:300353 VSIG4 skos:exactMatch ncbigene:11326 semapv:UnspecifiedMatching -OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:11817 semapv:UnspecifiedMatching -OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:TIMM8A semapv:UnspecifiedMatching -OMIM:300356 TIMM8A skos:exactMatch ncbigene:1678 semapv:UnspecifiedMatching -OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:14281 semapv:UnspecifiedMatching -OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching -OMIM:300357 CRLF2 skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching -OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:14543 semapv:UnspecifiedMatching -OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:WNK3 semapv:UnspecifiedMatching -OMIM:300358 WNK3 skos:exactMatch ncbigene:65267 semapv:UnspecifiedMatching -OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:30369 semapv:UnspecifiedMatching -OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:SAGE1 semapv:UnspecifiedMatching -OMIM:300359 SAGE1 skos:exactMatch ncbigene:55511 semapv:UnspecifiedMatching -OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:13388 semapv:UnspecifiedMatching -OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:BEX3 semapv:UnspecifiedMatching -OMIM:300361 NGFRAP1 skos:exactMatch ncbigene:27018 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch UMLS:C1538939 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:18073 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:ARMCX1 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch ncbigene:51309 semapv:UnspecifiedMatching -OMIM:300363 ARMCX2 skos:exactMatch UMLS:C1538940 semapv:UnspecifiedMatching -OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:16869 semapv:UnspecifiedMatching -OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:ARMCX2 semapv:UnspecifiedMatching -OMIM:300363 ARMCX2 skos:exactMatch ncbigene:9823 semapv:UnspecifiedMatching -OMIM:300364 ARMCX3 skos:exactMatch UMLS:C1538941 semapv:UnspecifiedMatching -OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:24065 semapv:UnspecifiedMatching -OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:ARMCX3 semapv:UnspecifiedMatching -OMIM:300364 ARMCX3 skos:exactMatch ncbigene:51566 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch UMLS:C1336639 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch UMLS:C5436946 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:15631 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:TLR7 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch ncbigene:51284 semapv:UnspecifiedMatching -OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:15632 semapv:UnspecifiedMatching -OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:TLR8 semapv:UnspecifiedMatching -OMIM:300366 TLR8 skos:exactMatch ncbigene:51311 semapv:UnspecifiedMatching -OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:17123 semapv:UnspecifiedMatching -OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:SLC9A7 semapv:UnspecifiedMatching -OMIM:300368 SLC9A7 skos:exactMatch ncbigene:84679 semapv:UnspecifiedMatching -OMIM:300369 GCNA skos:exactMatch hgnc.symbol:15805 semapv:UnspecifiedMatching -OMIM:300369 GCNA skos:exactMatch hgnc.symbol:GCNA semapv:UnspecifiedMatching -OMIM:300369 GCNA skos:exactMatch ncbigene:93953 semapv:UnspecifiedMatching -OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:12270 semapv:UnspecifiedMatching -OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:TREX2 semapv:UnspecifiedMatching -OMIM:300370 TREX2 skos:exactMatch ncbigene:11219 semapv:UnspecifiedMatching -OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:61 semapv:UnspecifiedMatching -OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:ABCD1 semapv:UnspecifiedMatching -OMIM:300371 ABCD1 skos:exactMatch ncbigene:215 semapv:UnspecifiedMatching -OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching -OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching -OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:13867 semapv:UnspecifiedMatching -OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:SH3KBP1 semapv:UnspecifiedMatching -OMIM:300374 SH3KBP1 skos:exactMatch ncbigene:30011 semapv:UnspecifiedMatching -OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:13817 semapv:UnspecifiedMatching -OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:CHST7 semapv:UnspecifiedMatching -OMIM:300375 CHST7 skos:exactMatch ncbigene:56548 semapv:UnspecifiedMatching -OMIM:300377 DMD skos:exactMatch hgnc.symbol:2928 semapv:UnspecifiedMatching -OMIM:300377 DMD skos:exactMatch hgnc.symbol:DMD semapv:UnspecifiedMatching -OMIM:300377 DMD skos:exactMatch ncbigene:1756 semapv:UnspecifiedMatching -OMIM:300379 RLIM skos:exactMatch hgnc.symbol:13429 semapv:UnspecifiedMatching -OMIM:300379 RLIM skos:exactMatch hgnc.symbol:RLIM semapv:UnspecifiedMatching -OMIM:300379 RLIM skos:exactMatch ncbigene:51132 semapv:UnspecifiedMatching -OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:2520 semapv:UnspecifiedMatching -OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:CTPS2 semapv:UnspecifiedMatching -OMIM:300380 CTPS2 skos:exactMatch ncbigene:56474 semapv:UnspecifiedMatching -OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:12976 semapv:UnspecifiedMatching -OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:ZNF185 semapv:UnspecifiedMatching -OMIM:300381 ZNF185 skos:exactMatch ncbigene:7739 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C1425272 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C1846172 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch hgnc.symbol:18060 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch hgnc.symbol:ARX semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch ncbigene:170302 semapv:UnspecifiedMatching -OMIM:300383 CFP skos:exactMatch hgnc.symbol:8864 semapv:UnspecifiedMatching -OMIM:300383 CFP skos:exactMatch hgnc.symbol:CFP semapv:UnspecifiedMatching -OMIM:300383 CFP skos:exactMatch ncbigene:5199 semapv:UnspecifiedMatching -OMIM:300384 EMD skos:exactMatch hgnc.symbol:3331 semapv:UnspecifiedMatching -OMIM:300384 EMD skos:exactMatch hgnc.symbol:EMD semapv:UnspecifiedMatching -OMIM:300384 EMD skos:exactMatch ncbigene:2010 semapv:UnspecifiedMatching -OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:8013 semapv:UnspecifiedMatching -OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:HMGN5 semapv:UnspecifiedMatching -OMIM:300385 NSBP1 skos:exactMatch ncbigene:79366 semapv:UnspecifiedMatching -OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:11935 semapv:UnspecifiedMatching -OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:CD40LG semapv:UnspecifiedMatching -OMIM:300386 CD40LG skos:exactMatch ncbigene:959 semapv:UnspecifiedMatching -OMIM:300390 CHM skos:exactMatch hgnc.symbol:1940 semapv:UnspecifiedMatching -OMIM:300390 CHM skos:exactMatch hgnc.symbol:CHM semapv:UnspecifiedMatching -OMIM:300390 CHM skos:exactMatch ncbigene:1121 semapv:UnspecifiedMatching -OMIM:300391 AMELX skos:exactMatch hgnc.symbol:461 semapv:UnspecifiedMatching -OMIM:300391 AMELX skos:exactMatch hgnc.symbol:AMELX semapv:UnspecifiedMatching -OMIM:300391 AMELX skos:exactMatch ncbigene:265 semapv:UnspecifiedMatching -OMIM:300392 WAS skos:exactMatch hgnc.symbol:12731 semapv:UnspecifiedMatching -OMIM:300392 WAS skos:exactMatch hgnc.symbol:WAS semapv:UnspecifiedMatching -OMIM:300392 WAS skos:exactMatch ncbigene:7454 semapv:UnspecifiedMatching -OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:14963 semapv:UnspecifiedMatching -OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:GPR101 semapv:UnspecifiedMatching -OMIM:300393 GPR101 skos:exactMatch ncbigene:83550 semapv:UnspecifiedMatching -OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:11577 semapv:UnspecifiedMatching -OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:TAFAZZIN semapv:UnspecifiedMatching -OMIM:300394 TAFAZZIN skos:exactMatch ncbigene:6901 semapv:UnspecifiedMatching -OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:19073 semapv:UnspecifiedMatching -OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:THOC2 semapv:UnspecifiedMatching -OMIM:300395 THOC2 skos:exactMatch ncbigene:57187 semapv:UnspecifiedMatching -OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:2492 semapv:UnspecifiedMatching -OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:CTAG2 semapv:UnspecifiedMatching -OMIM:300396 CTAG2 skos:exactMatch ncbigene:30848 semapv:UnspecifiedMatching -OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:16695 semapv:UnspecifiedMatching -OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:BCAP31 semapv:UnspecifiedMatching -OMIM:300398 BCAP31 skos:exactMatch ncbigene:10134 semapv:UnspecifiedMatching -OMIM:300399 PCSK1N skos:exactMatch UMLS:C1424886 semapv:UnspecifiedMatching -OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:17301 semapv:UnspecifiedMatching -OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:PCSK1N semapv:UnspecifiedMatching -OMIM:300399 PCSK1N skos:exactMatch ncbigene:27344 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C0751604 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C0751915 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C1418654 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C4016483 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch UMLS:C4016484 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:9086 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:PLP1 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch ncbigene:5354 semapv:UnspecifiedMatching -OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:6548 semapv:UnspecifiedMatching -OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:LDOC1 semapv:UnspecifiedMatching -OMIM:300402 LDOC1 skos:exactMatch ncbigene:23641 semapv:UnspecifiedMatching -OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:20372 semapv:UnspecifiedMatching -OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:NDUFB11 semapv:UnspecifiedMatching -OMIM:300403 NDUFB11 skos:exactMatch ncbigene:54539 semapv:UnspecifiedMatching -OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:25410 semapv:UnspecifiedMatching -OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:RAB40AL semapv:UnspecifiedMatching -OMIM:300405 RAB40AL skos:exactMatch ncbigene:282808 semapv:UnspecifiedMatching -OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:13629 semapv:UnspecifiedMatching -OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:PABPC5 semapv:UnspecifiedMatching -OMIM:300407 PABPC5 skos:exactMatch ncbigene:140886 semapv:UnspecifiedMatching -OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:18706 semapv:UnspecifiedMatching -OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:GRIPAP1 semapv:UnspecifiedMatching -OMIM:300408 GRIPAP1 skos:exactMatch ncbigene:56850 semapv:UnspecifiedMatching -OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:16849 semapv:UnspecifiedMatching -OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:MORF4L2 semapv:UnspecifiedMatching -OMIM:300409 MORF4L2 skos:exactMatch ncbigene:9643 semapv:UnspecifiedMatching -OMIM:300410 AMOT skos:exactMatch hgnc.symbol:17810 semapv:UnspecifiedMatching -OMIM:300410 AMOT skos:exactMatch hgnc.symbol:AMOT semapv:UnspecifiedMatching -OMIM:300410 AMOT skos:exactMatch ncbigene:154796 semapv:UnspecifiedMatching -OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:18570 semapv:UnspecifiedMatching -OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:TGIF2LX semapv:UnspecifiedMatching -OMIM:300411 TGIF2LX skos:exactMatch ncbigene:90316 semapv:UnspecifiedMatching -OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:20564 semapv:UnspecifiedMatching -OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:MBNL3 semapv:UnspecifiedMatching -OMIM:300413 MBNL3 skos:exactMatch ncbigene:55796 semapv:UnspecifiedMatching -OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:18145 semapv:UnspecifiedMatching -OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:PHF6 semapv:UnspecifiedMatching -OMIM:300414 PHF6 skos:exactMatch ncbigene:84295 semapv:UnspecifiedMatching -OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:7448 semapv:UnspecifiedMatching -OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:MTM1 semapv:UnspecifiedMatching -OMIM:300415 MTM1 skos:exactMatch ncbigene:4534 semapv:UnspecifiedMatching -OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:4112 semapv:UnspecifiedMatching -OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:XAGE2 semapv:UnspecifiedMatching -OMIM:300416 XAGE2 skos:exactMatch ncbigene:9502 semapv:UnspecifiedMatching -OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:24834 semapv:UnspecifiedMatching -OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:GPRASP1 semapv:UnspecifiedMatching -OMIM:300417 GPRASP1 skos:exactMatch ncbigene:9737 semapv:UnspecifiedMatching -OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:4622 semapv:UnspecifiedMatching -OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:GSPT2 semapv:UnspecifiedMatching -OMIM:300418 GSPT2 skos:exactMatch ncbigene:23708 semapv:UnspecifiedMatching -OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching -OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching -OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:16648 semapv:UnspecifiedMatching -OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:PJA1 semapv:UnspecifiedMatching -OMIM:300420 PJA1 skos:exactMatch ncbigene:64219 semapv:UnspecifiedMatching -OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching -OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:93952 semapv:UnspecifiedMatching -OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching -OMIM:300424 retinitis pigmentosa 23 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:300424 retinitis pigmentosa 23 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch UMLS:C1136249 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch UMLS:C1538067 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch UMLS:C1845539 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch UMLS:C3151722 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:14287 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:NLGN4X semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch ncbigene:57502 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1422758 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:14561 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:ARHGEF9 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch ncbigene:23229 semapv:UnspecifiedMatching -OMIM:300431 atkin-flaitz syndrome skos:exactMatch Orphanet:1193 semapv:UnspecifiedMatching -OMIM:300431 atkin-flaitz syndrome skos:exactMatch UMLS:C0796206 semapv:UnspecifiedMatching -OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:16090 semapv:UnspecifiedMatching -OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:PGRMC1 semapv:UnspecifiedMatching -OMIM:300435 PGRMC1 skos:exactMatch ncbigene:10857 semapv:UnspecifiedMatching -OMIM:300437 ERAS skos:exactMatch hgnc.symbol:5174 semapv:UnspecifiedMatching -OMIM:300437 ERAS skos:exactMatch hgnc.symbol:ERAS semapv:UnspecifiedMatching -OMIM:300437 ERAS skos:exactMatch ncbigene:3266 semapv:UnspecifiedMatching -OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:21153 semapv:UnspecifiedMatching -OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:RNF128 semapv:UnspecifiedMatching -OMIM:300439 RNF128 skos:exactMatch ncbigene:79589 semapv:UnspecifiedMatching -OMIM:300440 NKRF skos:exactMatch hgnc.symbol:19374 semapv:UnspecifiedMatching -OMIM:300440 NKRF skos:exactMatch hgnc.symbol:NKRF semapv:UnspecifiedMatching -OMIM:300440 NKRF skos:exactMatch ncbigene:55922 semapv:UnspecifiedMatching -OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:15975 semapv:UnspecifiedMatching -OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:SASH3 semapv:UnspecifiedMatching -OMIM:300441 SASH3 skos:exactMatch ncbigene:54440 semapv:UnspecifiedMatching -OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:11061 semapv:UnspecifiedMatching -OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:SLC7A3 semapv:UnspecifiedMatching -OMIM:300443 SLC7A3 skos:exactMatch ncbigene:84889 semapv:UnspecifiedMatching -OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:11047 semapv:UnspecifiedMatching -OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:SLC6A14 semapv:UnspecifiedMatching -OMIM:300444 SLC6A14 skos:exactMatch ncbigene:11254 semapv:UnspecifiedMatching -OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:14455 semapv:UnspecifiedMatching -OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:H2AB3 semapv:UnspecifiedMatching -OMIM:300445 H2AB3 skos:exactMatch ncbigene:83740 semapv:UnspecifiedMatching -OMIM:300446 RHOXF1 skos:exactMatch UMLS:C1845515 semapv:UnspecifiedMatching -OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:29993 semapv:UnspecifiedMatching -OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:RHOXF1 semapv:UnspecifiedMatching -OMIM:300446 RHOXF1 skos:exactMatch ncbigene:158800 semapv:UnspecifiedMatching -OMIM:300447 RHOXF2 skos:exactMatch UMLS:C1845514 semapv:UnspecifiedMatching -OMIM:300447 RHOXF2 skos:exactMatch hgnc.symbol:30011 semapv:UnspecifiedMatching -OMIM:300447 RHOXF2 skos:exactMatch hgnc.symbol:RHOXF2 semapv:UnspecifiedMatching -OMIM:300447 RHOXF2 skos:exactMatch ncbigene:84528 semapv:UnspecifiedMatching -OMIM:300450 FATE1 skos:exactMatch hgnc.symbol:24683 semapv:UnspecifiedMatching -OMIM:300450 FATE1 skos:exactMatch hgnc.symbol:FATE1 semapv:UnspecifiedMatching -OMIM:300450 FATE1 skos:exactMatch ncbigene:89885 semapv:UnspecifiedMatching -OMIM:300451 EDA skos:exactMatch hgnc.symbol:3157 semapv:UnspecifiedMatching -OMIM:300451 EDA skos:exactMatch hgnc.symbol:EDA semapv:UnspecifiedMatching -OMIM:300451 EDA skos:exactMatch ncbigene:1896 semapv:UnspecifiedMatching -OMIM:300452 INGX skos:exactMatch hgnc.symbol:6064 semapv:UnspecifiedMatching -OMIM:300452 INGX skos:exactMatch hgnc.symbol:INGX semapv:UnspecifiedMatching -OMIM:300452 INGX skos:exactMatch ncbigene:27160 semapv:UnspecifiedMatching -OMIM:300453 FAM50A skos:exactMatch UMLS:C1539454 semapv:UnspecifiedMatching -OMIM:300453 FAM50A skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching -OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:18786 semapv:UnspecifiedMatching -OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:FAM50A semapv:UnspecifiedMatching -OMIM:300453 FAM50A skos:exactMatch ncbigene:9130 semapv:UnspecifiedMatching -OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:18709 semapv:UnspecifiedMatching -OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:CCNB3 semapv:UnspecifiedMatching -OMIM:300456 CCNB3 skos:exactMatch ncbigene:85417 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch UMLS:C1417725 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch UMLS:C4049004 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch hgnc.symbol:7820 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch hgnc.symbol:NHS semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch ncbigene:4810 semapv:UnspecifiedMatching -OMIM:300459 TNMD skos:exactMatch hgnc.symbol:17757 semapv:UnspecifiedMatching -OMIM:300459 TNMD skos:exactMatch hgnc.symbol:TNMD semapv:UnspecifiedMatching -OMIM:300459 TNMD skos:exactMatch ncbigene:64102 semapv:UnspecifiedMatching -OMIM:300460 PCDH19 skos:exactMatch UMLS:C1422530 semapv:UnspecifiedMatching -OMIM:300460 PCDH19 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching -OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:14270 semapv:UnspecifiedMatching -OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:PCDH19 semapv:UnspecifiedMatching -OMIM:300460 PCDH19 skos:exactMatch ncbigene:57526 semapv:UnspecifiedMatching -OMIM:300461 OTC skos:exactMatch hgnc.symbol:8512 semapv:UnspecifiedMatching -OMIM:300461 OTC skos:exactMatch hgnc.symbol:OTC semapv:UnspecifiedMatching -OMIM:300461 OTC skos:exactMatch ncbigene:5009 semapv:UnspecifiedMatching -OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:24061 semapv:UnspecifiedMatching -OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:AKAP14 semapv:UnspecifiedMatching -OMIM:300462 AKAP14 skos:exactMatch ncbigene:158798 semapv:UnspecifiedMatching -OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:9330 semapv:UnspecifiedMatching -OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:PQBP1 semapv:UnspecifiedMatching -OMIM:300463 PQBP1 skos:exactMatch ncbigene:10084 semapv:UnspecifiedMatching -OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:23795 semapv:UnspecifiedMatching -OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:MAGEB5 semapv:UnspecifiedMatching -OMIM:300466 MAGEB5 skos:exactMatch ncbigene:347541 semapv:UnspecifiedMatching -OMIM:300467 MAGEB6 skos:exactMatch hgnc.symbol:23796 semapv:UnspecifiedMatching -OMIM:300467 MAGEB6 skos:exactMatch hgnc.symbol:MAGEB6 semapv:UnspecifiedMatching -OMIM:300467 MAGEB6 skos:exactMatch ncbigene:158809 semapv:UnspecifiedMatching -OMIM:300468 MAGEC2 skos:exactMatch hgnc.symbol:13574 semapv:UnspecifiedMatching -OMIM:300468 MAGEC2 skos:exactMatch hgnc.symbol:MAGEC2 semapv:UnspecifiedMatching -OMIM:300468 MAGEC2 skos:exactMatch ncbigene:51438 semapv:UnspecifiedMatching -OMIM:300469 MAGEC3 skos:exactMatch hgnc.symbol:23798 semapv:UnspecifiedMatching -OMIM:300469 MAGEC3 skos:exactMatch hgnc.symbol:MAGEC3 semapv:UnspecifiedMatching -OMIM:300469 MAGEC3 skos:exactMatch ncbigene:139081 semapv:UnspecifiedMatching -OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:16353 semapv:UnspecifiedMatching -OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:MAGED2 semapv:UnspecifiedMatching -OMIM:300470 MAGED2 skos:exactMatch ncbigene:10916 semapv:UnspecifiedMatching -OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:7960 semapv:UnspecifiedMatching -OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:NR0B1 semapv:UnspecifiedMatching -OMIM:300473 NR0B1 skos:exactMatch ncbigene:190 semapv:UnspecifiedMatching -OMIM:300474 GK skos:exactMatch hgnc.symbol:4289 semapv:UnspecifiedMatching -OMIM:300474 GK skos:exactMatch hgnc.symbol:GK semapv:UnspecifiedMatching -OMIM:300474 GK skos:exactMatch ncbigene:2710 semapv:UnspecifiedMatching -OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:18403 semapv:UnspecifiedMatching -OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:FAM9A semapv:UnspecifiedMatching -OMIM:300477 FAM9A skos:exactMatch ncbigene:171482 semapv:UnspecifiedMatching -OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:18404 semapv:UnspecifiedMatching -OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:FAM9B semapv:UnspecifiedMatching -OMIM:300478 FAM9B skos:exactMatch ncbigene:171483 semapv:UnspecifiedMatching -OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:18405 semapv:UnspecifiedMatching -OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:FAM9C semapv:UnspecifiedMatching -OMIM:300479 FAM9C skos:exactMatch ncbigene:171484 semapv:UnspecifiedMatching -OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:30681 semapv:UnspecifiedMatching -OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:TAB3 semapv:UnspecifiedMatching -OMIM:300480 TAB3 skos:exactMatch ncbigene:257397 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch UMLS:C1413844 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch UMLS:C1970859 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch UMLS:C4016486 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch hgnc.symbol:2578 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch hgnc.symbol:CYBB semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch ncbigene:1536 semapv:UnspecifiedMatching -OMIM:300482 GAB3 skos:exactMatch hgnc.symbol:17515 semapv:UnspecifiedMatching -OMIM:300482 GAB3 skos:exactMatch hgnc.symbol:GAB3 semapv:UnspecifiedMatching -OMIM:300482 GAB3 skos:exactMatch ncbigene:139716 semapv:UnspecifiedMatching -OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch Orphanet:2755 semapv:UnspecifiedMatching -OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch UMLS:C0152096 semapv:UnspecifiedMatching -OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch UMLS:C0796101 semapv:UnspecifiedMatching -OMIM:300485 BCOR skos:exactMatch hgnc.symbol:20893 semapv:UnspecifiedMatching -OMIM:300485 BCOR skos:exactMatch hgnc.symbol:BCOR semapv:UnspecifiedMatching -OMIM:300485 BCOR skos:exactMatch ncbigene:54880 semapv:UnspecifiedMatching -OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:24027 semapv:UnspecifiedMatching -OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:ACTRT1 semapv:UnspecifiedMatching -OMIM:300487 ACTRT1 skos:exactMatch ncbigene:139741 semapv:UnspecifiedMatching -OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:10820 semapv:UnspecifiedMatching -OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:SH2D1A semapv:UnspecifiedMatching -OMIM:300490 SH2D1A skos:exactMatch ncbigene:4068 semapv:UnspecifiedMatching -OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:13749 semapv:UnspecifiedMatching -OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:FAM3A semapv:UnspecifiedMatching -OMIM:300492 FAM3A skos:exactMatch ncbigene:60343 semapv:UnspecifiedMatching -OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:14328 semapv:UnspecifiedMatching -OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:SPANXA2 semapv:UnspecifiedMatching -OMIM:300493 SPANXA2 skos:exactMatch ncbigene:728712 semapv:UnspecifiedMatching -OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:13254 semapv:UnspecifiedMatching -OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:FTSJ1 semapv:UnspecifiedMatching -OMIM:300499 FTSJ1 skos:exactMatch ncbigene:24140 semapv:UnspecifiedMatching -OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:8806 semapv:UnspecifiedMatching -OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:PDHA1 semapv:UnspecifiedMatching -OMIM:300502 PDHA1 skos:exactMatch ncbigene:5160 semapv:UnspecifiedMatching -OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:3051 semapv:UnspecifiedMatching -OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:TSC22D3 semapv:UnspecifiedMatching -OMIM:300506 TSC22D3 skos:exactMatch ncbigene:1831 semapv:UnspecifiedMatching -OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:27252 semapv:UnspecifiedMatching -OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:H2BW1 semapv:UnspecifiedMatching -OMIM:300507 H2BFWT skos:exactMatch ncbigene:158983 semapv:UnspecifiedMatching -OMIM:300508 UTP14A skos:exactMatch UMLS:C1540168 semapv:UnspecifiedMatching -OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:10665 semapv:UnspecifiedMatching -OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:UTP14A semapv:UnspecifiedMatching -OMIM:300508 UTP14A skos:exactMatch ncbigene:10813 semapv:UnspecifiedMatching -OMIM:300510 ovarian dysgenesis 2 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching -OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845294 semapv:UnspecifiedMatching -OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845295 semapv:UnspecifiedMatching -OMIM:300512 WDR13 skos:exactMatch hgnc.symbol:14352 semapv:UnspecifiedMatching -OMIM:300512 WDR13 skos:exactMatch hgnc.symbol:WDR13 semapv:UnspecifiedMatching -OMIM:300512 WDR13 skos:exactMatch ncbigene:64743 semapv:UnspecifiedMatching -OMIM:300513 GPR119 skos:exactMatch hgnc.symbol:19060 semapv:UnspecifiedMatching -OMIM:300513 GPR119 skos:exactMatch hgnc.symbol:GPR119 semapv:UnspecifiedMatching -OMIM:300513 GPR119 skos:exactMatch ncbigene:139760 semapv:UnspecifiedMatching -OMIM:300515 FANCB skos:exactMatch hgnc.symbol:3583 semapv:UnspecifiedMatching -OMIM:300515 FANCB skos:exactMatch hgnc.symbol:FANCB semapv:UnspecifiedMatching -OMIM:300515 FANCB skos:exactMatch ncbigene:2187 semapv:UnspecifiedMatching -OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:13554 semapv:UnspecifiedMatching -OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:ATP11C semapv:UnspecifiedMatching -OMIM:300516 ATP11C skos:exactMatch ncbigene:286410 semapv:UnspecifiedMatching -OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:33147 semapv:UnspecifiedMatching -OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:SPIN2B semapv:UnspecifiedMatching -OMIM:300517 SPIN2B skos:exactMatch ncbigene:474343 semapv:UnspecifiedMatching -OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:2041 semapv:UnspecifiedMatching -OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:CLDN2 semapv:UnspecifiedMatching -OMIM:300520 CLDN2 skos:exactMatch ncbigene:9075 semapv:UnspecifiedMatching -OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:13339 semapv:UnspecifiedMatching -OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:KIF4A semapv:UnspecifiedMatching -OMIM:300521 KIF4A skos:exactMatch ncbigene:24137 semapv:UnspecifiedMatching -OMIM:300522 IQSEC2 skos:exactMatch hgnc.symbol:29059 semapv:UnspecifiedMatching -OMIM:300522 IQSEC2 skos:exactMatch hgnc.symbol:IQSEC2 semapv:UnspecifiedMatching -OMIM:300522 IQSEC2 skos:exactMatch ncbigene:23096 semapv:UnspecifiedMatching -OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:280270 semapv:UnspecifiedMatching -OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:59 semapv:UnspecifiedMatching -OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch UMLS:C0795889 semapv:UnspecifiedMatching -OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:29433 semapv:UnspecifiedMatching -OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:NEXMIF semapv:UnspecifiedMatching -OMIM:300524 NEXMIF skos:exactMatch ncbigene:340533 semapv:UnspecifiedMatching -OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:15524 semapv:UnspecifiedMatching -OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:P2RY8 semapv:UnspecifiedMatching -OMIM:300525 P2RY8 skos:exactMatch ncbigene:286530 semapv:UnspecifiedMatching -OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:28912 semapv:UnspecifiedMatching -OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:WDR45 semapv:UnspecifiedMatching -OMIM:300526 WDR45 skos:exactMatch ncbigene:11152 semapv:UnspecifiedMatching -OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:17621 semapv:UnspecifiedMatching -OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:NUDT10 semapv:UnspecifiedMatching -OMIM:300527 NUDT10 skos:exactMatch ncbigene:170685 semapv:UnspecifiedMatching -OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:18011 semapv:UnspecifiedMatching -OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:NUDT11 semapv:UnspecifiedMatching -OMIM:300528 NUDT11 skos:exactMatch ncbigene:55190 semapv:UnspecifiedMatching -OMIM:300529 P2RY10 skos:exactMatch hgnc.symbol:19906 semapv:UnspecifiedMatching -OMIM:300529 P2RY10 skos:exactMatch hgnc.symbol:P2RY10 semapv:UnspecifiedMatching -OMIM:300529 P2RY10 skos:exactMatch ncbigene:27334 semapv:UnspecifiedMatching -OMIM:300531 SPRY3 skos:exactMatch hgnc.symbol:11271 semapv:UnspecifiedMatching -OMIM:300531 SPRY3 skos:exactMatch hgnc.symbol:SPRY3 semapv:UnspecifiedMatching -OMIM:300531 SPRY3 skos:exactMatch ncbigene:10251 semapv:UnspecifiedMatching -OMIM:300532 VCX2 skos:exactMatch hgnc.symbol:18158 semapv:UnspecifiedMatching -OMIM:300532 VCX2 skos:exactMatch hgnc.symbol:VCX2 semapv:UnspecifiedMatching -OMIM:300532 VCX2 skos:exactMatch ncbigene:51480 semapv:UnspecifiedMatching -OMIM:300533 VCX3A skos:exactMatch hgnc.symbol:18159 semapv:UnspecifiedMatching -OMIM:300533 VCX3A skos:exactMatch hgnc.symbol:VCX3A semapv:UnspecifiedMatching -OMIM:300533 VCX3A skos:exactMatch ncbigene:51481 semapv:UnspecifiedMatching -OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch Orphanet:85279 semapv:UnspecifiedMatching -OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch UMLS:C1845243 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch UMLS:C1417931 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch hgnc.symbol:8108 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch hgnc.symbol:OCRL semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch ncbigene:4952 semapv:UnspecifiedMatching -OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:897 semapv:UnspecifiedMatching -OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:AVPR2 semapv:UnspecifiedMatching -OMIM:300538 AVPR2 skos:exactMatch ncbigene:554 semapv:UnspecifiedMatching -OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:32979 semapv:UnspecifiedMatching -OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:HAUS7 semapv:UnspecifiedMatching -OMIM:300540 HAUS7 skos:exactMatch ncbigene:55559 semapv:UnspecifiedMatching -OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:19652 semapv:UnspecifiedMatching -OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:SSX6P semapv:UnspecifiedMatching -OMIM:300541 SSX6 skos:exactMatch ncbigene:280657 semapv:UnspecifiedMatching -OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:19653 semapv:UnspecifiedMatching -OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:SSX7 semapv:UnspecifiedMatching -OMIM:300542 SSX7 skos:exactMatch ncbigene:280658 semapv:UnspecifiedMatching -OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:19654 semapv:UnspecifiedMatching -OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:SSX8P semapv:UnspecifiedMatching -OMIM:300543 SSX8 skos:exactMatch ncbigene:280659 semapv:UnspecifiedMatching -OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:19655 semapv:UnspecifiedMatching -OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:SSX9P semapv:UnspecifiedMatching -OMIM:300544 SSX9 skos:exactMatch ncbigene:280660 semapv:UnspecifiedMatching -OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:19133 semapv:UnspecifiedMatching -OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:HS6ST2 semapv:UnspecifiedMatching -OMIM:300545 HS6ST2 skos:exactMatch ncbigene:90161 semapv:UnspecifiedMatching -OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:3663 semapv:UnspecifiedMatching -OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:FGD1 semapv:UnspecifiedMatching -OMIM:300546 FGD1 skos:exactMatch ncbigene:2245 semapv:UnspecifiedMatching -OMIM:300547 STK26 skos:exactMatch UMLS:C1845191 semapv:UnspecifiedMatching -OMIM:300547 STK26 skos:exactMatch hgnc.symbol:18174 semapv:UnspecifiedMatching -OMIM:300547 STK26 skos:exactMatch hgnc.symbol:STK26 semapv:UnspecifiedMatching -OMIM:300547 STK26 skos:exactMatch ncbigene:51765 semapv:UnspecifiedMatching -OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:24092 semapv:UnspecifiedMatching -OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:MAGEH1 semapv:UnspecifiedMatching -OMIM:300548 MAGEH1 skos:exactMatch ncbigene:28986 semapv:UnspecifiedMatching -OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:19340 semapv:UnspecifiedMatching -OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:MAGEA2B semapv:UnspecifiedMatching -OMIM:300549 MAGEA2B skos:exactMatch ncbigene:266740 semapv:UnspecifiedMatching -OMIM:300550 PHEX skos:exactMatch hgnc.symbol:8918 semapv:UnspecifiedMatching -OMIM:300550 PHEX skos:exactMatch hgnc.symbol:PHEX semapv:UnspecifiedMatching -OMIM:300550 PHEX skos:exactMatch ncbigene:5251 semapv:UnspecifiedMatching -OMIM:300552 MID1 skos:exactMatch hgnc.symbol:7095 semapv:UnspecifiedMatching -OMIM:300552 MID1 skos:exactMatch hgnc.symbol:MID1 semapv:UnspecifiedMatching -OMIM:300552 MID1 skos:exactMatch ncbigene:4281 semapv:UnspecifiedMatching -OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:17342 semapv:UnspecifiedMatching -OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:BRWD3 semapv:UnspecifiedMatching -OMIM:300553 BRWD3 skos:exactMatch ncbigene:254065 semapv:UnspecifiedMatching -OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching -OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:93622 semapv:UnspecifiedMatching -OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch UMLS:C1845168 semapv:UnspecifiedMatching -OMIM:300555 dent disease 2 skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching -OMIM:300555 dent disease 2 skos:exactMatch Orphanet:93623 semapv:UnspecifiedMatching -OMIM:300555 dent disease 2 skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1425435 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C3806722 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:18305 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:ATP6AP2 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch ncbigene:10159 semapv:UnspecifiedMatching -OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:20672 semapv:UnspecifiedMatching -OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:PHF8 semapv:UnspecifiedMatching -OMIM:300560 PHF8 skos:exactMatch ncbigene:23133 semapv:UnspecifiedMatching -OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:13449 semapv:UnspecifiedMatching -OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:SLITRK2 semapv:UnspecifiedMatching -OMIM:300561 SLITRK2 skos:exactMatch ncbigene:84631 semapv:UnspecifiedMatching -OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:23502 semapv:UnspecifiedMatching -OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:SLITRK4 semapv:UnspecifiedMatching -OMIM:300562 SLITRK4 skos:exactMatch ncbigene:139065 semapv:UnspecifiedMatching -OMIM:300564 TSPYL2 skos:exactMatch hgnc.symbol:24358 semapv:UnspecifiedMatching -OMIM:300564 TSPYL2 skos:exactMatch hgnc.symbol:TSPYL2 semapv:UnspecifiedMatching -OMIM:300564 TSPYL2 skos:exactMatch ncbigene:64061 semapv:UnspecifiedMatching -OMIM:300566 LHFPL1 skos:exactMatch hgnc.symbol:6587 semapv:UnspecifiedMatching -OMIM:300566 LHFPL1 skos:exactMatch hgnc.symbol:LHFPL1 semapv:UnspecifiedMatching -OMIM:300566 LHFPL1 skos:exactMatch ncbigene:340596 semapv:UnspecifiedMatching -OMIM:300567 PGAM4 skos:exactMatch hgnc.symbol:21731 semapv:UnspecifiedMatching -OMIM:300567 PGAM4 skos:exactMatch hgnc.symbol:PGAM4 semapv:UnspecifiedMatching -OMIM:300567 PGAM4 skos:exactMatch ncbigene:441531 semapv:UnspecifiedMatching -OMIM:300568 MIR221 skos:exactMatch hgnc.symbol:31601 semapv:UnspecifiedMatching -OMIM:300568 MIR221 skos:exactMatch hgnc.symbol:MIR221 semapv:UnspecifiedMatching -OMIM:300568 MIR221 skos:exactMatch ncbigene:407006 semapv:UnspecifiedMatching -OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:31602 semapv:UnspecifiedMatching -OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:MIR222 semapv:UnspecifiedMatching -OMIM:300569 MIR222 skos:exactMatch ncbigene:407007 semapv:UnspecifiedMatching -OMIM:300570 YY2 skos:exactMatch hgnc.symbol:31684 semapv:UnspecifiedMatching -OMIM:300570 YY2 skos:exactMatch hgnc.symbol:YY2 semapv:UnspecifiedMatching -OMIM:300570 YY2 skos:exactMatch ncbigene:404281 semapv:UnspecifiedMatching -OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:4516 semapv:UnspecifiedMatching -OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:ADGRG2 semapv:UnspecifiedMatching -OMIM:300572 ADGRG2 skos:exactMatch ncbigene:10149 semapv:UnspecifiedMatching -OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:17625 semapv:UnspecifiedMatching -OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:ZNF674 semapv:UnspecifiedMatching -OMIM:300573 ZNF674 skos:exactMatch ncbigene:641339 semapv:UnspecifiedMatching -OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:4540 semapv:UnspecifiedMatching -OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:CXCR3 semapv:UnspecifiedMatching -OMIM:300574 CXCR3 skos:exactMatch ncbigene:2833 semapv:UnspecifiedMatching -OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:25117 semapv:UnspecifiedMatching -OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:RIPPLY1 semapv:UnspecifiedMatching -OMIM:300575 RIPPLY1 skos:exactMatch ncbigene:92129 semapv:UnspecifiedMatching -OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:20342 semapv:UnspecifiedMatching -OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:ZDHHC15 semapv:UnspecifiedMatching -OMIM:300576 ZDHHC15 skos:exactMatch ncbigene:158866 semapv:UnspecifiedMatching -OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:29215 semapv:UnspecifiedMatching -OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:SHROOM4 semapv:UnspecifiedMatching -OMIM:300579 SHROOM4 skos:exactMatch ncbigene:57477 semapv:UnspecifiedMatching -OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:20985 semapv:UnspecifiedMatching -OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:VGLL1 semapv:UnspecifiedMatching -OMIM:300583 VGLL1 skos:exactMatch ncbigene:51442 semapv:UnspecifiedMatching -OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:26007 semapv:UnspecifiedMatching -OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:KRBOX4 semapv:UnspecifiedMatching -OMIM:300585 ZNF673 skos:exactMatch ncbigene:55634 semapv:UnspecifiedMatching -OMIM:300586 ARSH skos:exactMatch hgnc.symbol:32488 semapv:UnspecifiedMatching -OMIM:300586 ARSH skos:exactMatch hgnc.symbol:ARSH semapv:UnspecifiedMatching -OMIM:300586 ARSH skos:exactMatch ncbigene:347527 semapv:UnspecifiedMatching -OMIM:300587 MCTS1 skos:exactMatch hgnc.symbol:23357 semapv:UnspecifiedMatching -OMIM:300587 MCTS1 skos:exactMatch hgnc.symbol:MCTS1 semapv:UnspecifiedMatching -OMIM:300587 MCTS1 skos:exactMatch ncbigene:28985 semapv:UnspecifiedMatching -OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:8117 semapv:UnspecifiedMatching -OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:TENM1 semapv:UnspecifiedMatching -OMIM:300588 TENM1 skos:exactMatch ncbigene:10178 semapv:UnspecifiedMatching -OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching -OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching -OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:27397 semapv:UnspecifiedMatching -OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:CT47A11 semapv:UnspecifiedMatching -OMIM:300592 CT47A11 skos:exactMatch ncbigene:255313 semapv:UnspecifiedMatching -OMIM:300593 SPACA5 skos:exactMatch hgnc.symbol:31353 semapv:UnspecifiedMatching -OMIM:300593 SPACA5 skos:exactMatch hgnc.symbol:SPACA5 semapv:UnspecifiedMatching -OMIM:300593 SPACA5 skos:exactMatch ncbigene:389852 semapv:UnspecifiedMatching -OMIM:300594 GAGE1 skos:exactMatch hgnc.symbol:4098 semapv:UnspecifiedMatching -OMIM:300594 GAGE1 skos:exactMatch hgnc.symbol:GAGE1 semapv:UnspecifiedMatching -OMIM:300594 GAGE1 skos:exactMatch ncbigene:2543 semapv:UnspecifiedMatching -OMIM:300595 GAGE2C skos:exactMatch hgnc.symbol:31958 semapv:UnspecifiedMatching -OMIM:300595 GAGE2C skos:exactMatch hgnc.symbol:GAGE2C semapv:UnspecifiedMatching -OMIM:300595 GAGE2C skos:exactMatch ncbigene:2574 semapv:UnspecifiedMatching -OMIM:300597 GAGE4 skos:exactMatch hgnc.symbol:4101 semapv:UnspecifiedMatching -OMIM:300597 GAGE4 skos:exactMatch hgnc.symbol:GAGE4 semapv:UnspecifiedMatching -OMIM:300597 GAGE4 skos:exactMatch ncbigene:2576 semapv:UnspecifiedMatching -OMIM:300598 GAGE5 skos:exactMatch hgnc.symbol:4102 semapv:UnspecifiedMatching -OMIM:300598 GAGE5 skos:exactMatch hgnc.symbol:GAGE5 semapv:UnspecifiedMatching -OMIM:300598 GAGE5 skos:exactMatch ncbigene:2577 semapv:UnspecifiedMatching -OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:4103 semapv:UnspecifiedMatching -OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:GAGE6 semapv:UnspecifiedMatching -OMIM:300599 GAGE6 skos:exactMatch ncbigene:2578 semapv:UnspecifiedMatching -OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:4104 semapv:UnspecifiedMatching -OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:GAGE7 semapv:UnspecifiedMatching -OMIM:300601 GAGE7 skos:exactMatch ncbigene:2579 semapv:UnspecifiedMatching -OMIM:300603 POF1B skos:exactMatch hgnc.symbol:13711 semapv:UnspecifiedMatching -OMIM:300603 POF1B skos:exactMatch hgnc.symbol:POF1B semapv:UnspecifiedMatching -OMIM:300603 POF1B skos:exactMatch ncbigene:79983 semapv:UnspecifiedMatching -OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching -OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching -OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch UMLS:C1424566 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:16814 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:DACH2 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch ncbigene:117154 semapv:UnspecifiedMatching -OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:7370 semapv:UnspecifiedMatching -OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:MSL3 semapv:UnspecifiedMatching -OMIM:300609 MSL3 skos:exactMatch ncbigene:10943 semapv:UnspecifiedMatching -OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:5042 semapv:UnspecifiedMatching -OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:HNRNPH2 semapv:UnspecifiedMatching -OMIM:300610 HNRNPH2 skos:exactMatch ncbigene:3188 semapv:UnspecifiedMatching -OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:24338 semapv:UnspecifiedMatching -OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:C1GALT1C1 semapv:UnspecifiedMatching -OMIM:300611 C1GALT1C1 skos:exactMatch ncbigene:29071 semapv:UnspecifiedMatching -OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch Orphanet:139583 semapv:UnspecifiedMatching -OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching -OMIM:300616 LUZP4 skos:exactMatch hgnc.symbol:24971 semapv:UnspecifiedMatching -OMIM:300616 LUZP4 skos:exactMatch hgnc.symbol:LUZP4 semapv:UnspecifiedMatching -OMIM:300616 LUZP4 skos:exactMatch ncbigene:51213 semapv:UnspecifiedMatching -OMIM:300617 BRCC3 skos:exactMatch UMLS:C1826632 semapv:UnspecifiedMatching -OMIM:300617 BRCC3 skos:exactMatch hgnc.symbol:24185 semapv:UnspecifiedMatching -OMIM:300617 BRCC3 skos:exactMatch hgnc.symbol:BRCC3 semapv:UnspecifiedMatching -OMIM:300617 BRCC3 skos:exactMatch ncbigene:79184 semapv:UnspecifiedMatching -OMIM:300618 PHF16 skos:exactMatch hgnc.symbol:22982 semapv:UnspecifiedMatching -OMIM:300618 PHF16 skos:exactMatch hgnc.symbol:JADE3 semapv:UnspecifiedMatching -OMIM:300618 PHF16 skos:exactMatch ncbigene:9767 semapv:UnspecifiedMatching -OMIM:300620 VSIG1 skos:exactMatch hgnc.symbol:28675 semapv:UnspecifiedMatching -OMIM:300620 VSIG1 skos:exactMatch hgnc.symbol:VSIG1 semapv:UnspecifiedMatching -OMIM:300620 VSIG1 skos:exactMatch ncbigene:340547 semapv:UnspecifiedMatching -OMIM:300621 SPIN2A skos:exactMatch hgnc.symbol:20694 semapv:UnspecifiedMatching -OMIM:300621 SPIN2A skos:exactMatch hgnc.symbol:SPIN2A semapv:UnspecifiedMatching -OMIM:300621 SPIN2A skos:exactMatch ncbigene:54466 semapv:UnspecifiedMatching -OMIM:300625 CT83 skos:exactMatch hgnc.symbol:33494 semapv:UnspecifiedMatching -OMIM:300625 CT83 skos:exactMatch hgnc.symbol:CT83 semapv:UnspecifiedMatching -OMIM:300625 CT83 skos:exactMatch ncbigene:203413 semapv:UnspecifiedMatching -OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:17186 semapv:UnspecifiedMatching -OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:ASB11 semapv:UnspecifiedMatching -OMIM:300626 ASB11 skos:exactMatch ncbigene:140456 semapv:UnspecifiedMatching -OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:21039 semapv:UnspecifiedMatching -OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:ZNF449 semapv:UnspecifiedMatching -OMIM:300627 ZNF449 skos:exactMatch ncbigene:203523 semapv:UnspecifiedMatching -OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:8079 semapv:UnspecifiedMatching -OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:FRMD7 semapv:UnspecifiedMatching -OMIM:300628 FRMD7 skos:exactMatch ncbigene:90167 semapv:UnspecifiedMatching -OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:560 semapv:UnspecifiedMatching -OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:AP1S2 semapv:UnspecifiedMatching -OMIM:300629 AP1S2 skos:exactMatch ncbigene:8905 semapv:UnspecifiedMatching -OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:29437 semapv:UnspecifiedMatching -OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:CLTRN semapv:UnspecifiedMatching -OMIM:300631 CLTRN skos:exactMatch ncbigene:57393 semapv:UnspecifiedMatching -OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:28034 semapv:UnspecifiedMatching -OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:PDZD11 semapv:UnspecifiedMatching -OMIM:300632 PDZD11 skos:exactMatch ncbigene:51248 semapv:UnspecifiedMatching -OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:21167 semapv:UnspecifiedMatching -OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:PDZD4 semapv:UnspecifiedMatching -OMIM:300634 PDZD4 skos:exactMatch ncbigene:57595 semapv:UnspecifiedMatching -OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319605 semapv:UnspecifiedMatching -OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319612 semapv:UnspecifiedMatching -OMIM:300636 immunodeficiency 33 skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching -OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:4105 semapv:UnspecifiedMatching -OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:GAGE12I semapv:UnspecifiedMatching -OMIM:300637 GAGE12I skos:exactMatch ncbigene:26748 semapv:UnspecifiedMatching -OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:4106 semapv:UnspecifiedMatching -OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:GAGE8 semapv:UnspecifiedMatching -OMIM:300638 GAGE8 skos:exactMatch ncbigene:100101629 semapv:UnspecifiedMatching -OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:30557 semapv:UnspecifiedMatching -OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:SLC25A43 semapv:UnspecifiedMatching -OMIM:300641 SLC25A43 skos:exactMatch ncbigene:203427 semapv:UnspecifiedMatching -OMIM:300642 SRPX2 skos:exactMatch hgnc.symbol:30668 semapv:UnspecifiedMatching -OMIM:300642 SRPX2 skos:exactMatch hgnc.symbol:SRPX2 semapv:UnspecifiedMatching -OMIM:300642 SRPX2 skos:exactMatch ncbigene:27286 semapv:UnspecifiedMatching -OMIM:300644 GLA skos:exactMatch hgnc.symbol:4296 semapv:UnspecifiedMatching -OMIM:300644 GLA skos:exactMatch hgnc.symbol:GLA semapv:UnspecifiedMatching -OMIM:300644 GLA skos:exactMatch ncbigene:2717 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C1425540 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:18475 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:ZDHHC9 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch ncbigene:51114 semapv:UnspecifiedMatching -OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:26837 semapv:UnspecifiedMatching -OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:AMER1 semapv:UnspecifiedMatching -OMIM:300647 AMER1 skos:exactMatch ncbigene:139285 semapv:UnspecifiedMatching -OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:33267 semapv:UnspecifiedMatching -OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:CT45A1 semapv:UnspecifiedMatching -OMIM:300648 CT45A1 skos:exactMatch ncbigene:541466 semapv:UnspecifiedMatching -OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:18070 semapv:UnspecifiedMatching -OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:SLC38A5 semapv:UnspecifiedMatching -OMIM:300649 SLC38A5 skos:exactMatch ncbigene:92745 semapv:UnspecifiedMatching -OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching -OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching -OMIM:300651 PORCN skos:exactMatch hgnc.symbol:17652 semapv:UnspecifiedMatching -OMIM:300651 PORCN skos:exactMatch hgnc.symbol:PORCN semapv:UnspecifiedMatching -OMIM:300651 PORCN skos:exactMatch ncbigene:64840 semapv:UnspecifiedMatching -OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:26440 semapv:UnspecifiedMatching -OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:FAAH2 semapv:UnspecifiedMatching -OMIM:300654 FAAH2 skos:exactMatch ncbigene:158584 semapv:UnspecifiedMatching -OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:22931 semapv:UnspecifiedMatching -OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:KLHL13 semapv:UnspecifiedMatching -OMIM:300655 KLHL13 skos:exactMatch ncbigene:90293 semapv:UnspecifiedMatching -OMIM:300656 UPRT skos:exactMatch UMLS:C1823601 semapv:UnspecifiedMatching -OMIM:300656 UPRT skos:exactMatch hgnc.symbol:28334 semapv:UnspecifiedMatching -OMIM:300656 UPRT skos:exactMatch hgnc.symbol:UPRT semapv:UnspecifiedMatching -OMIM:300656 UPRT skos:exactMatch ncbigene:139596 semapv:UnspecifiedMatching -OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:24198 semapv:UnspecifiedMatching -OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:CTAG1A semapv:UnspecifiedMatching -OMIM:300657 CTAG1A skos:exactMatch ncbigene:246100 semapv:UnspecifiedMatching -OMIM:300658 NDP skos:exactMatch hgnc.symbol:7678 semapv:UnspecifiedMatching -OMIM:300658 NDP skos:exactMatch hgnc.symbol:NDP semapv:UnspecifiedMatching -OMIM:300658 NDP skos:exactMatch ncbigene:4693 semapv:UnspecifiedMatching -OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:32599 semapv:UnspecifiedMatching -OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:SNORA11 semapv:UnspecifiedMatching -OMIM:300662 SNORA11 skos:exactMatch ncbigene:677799 semapv:UnspecifiedMatching -OMIM:300663 ATG4A skos:exactMatch UMLS:C1825494 semapv:UnspecifiedMatching -OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:16489 semapv:UnspecifiedMatching -OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:ATG4A semapv:UnspecifiedMatching -OMIM:300663 ATG4A skos:exactMatch ncbigene:115201 semapv:UnspecifiedMatching -OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:33174 semapv:UnspecifiedMatching -OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:SPANXN1 semapv:UnspecifiedMatching -OMIM:300664 SPANXN1 skos:exactMatch ncbigene:494118 semapv:UnspecifiedMatching -OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:33175 semapv:UnspecifiedMatching -OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:SPANXN2 semapv:UnspecifiedMatching -OMIM:300665 SPANXN2 skos:exactMatch ncbigene:494119 semapv:UnspecifiedMatching -OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:33176 semapv:UnspecifiedMatching -OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:SPANXN3 semapv:UnspecifiedMatching -OMIM:300666 SPANXN3 skos:exactMatch ncbigene:139067 semapv:UnspecifiedMatching -OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:33177 semapv:UnspecifiedMatching -OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:SPANXN4 semapv:UnspecifiedMatching -OMIM:300667 SPANXN4 skos:exactMatch ncbigene:441525 semapv:UnspecifiedMatching -OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:33178 semapv:UnspecifiedMatching -OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:SPANXN5 semapv:UnspecifiedMatching -OMIM:300668 SPANXN5 skos:exactMatch ncbigene:494197 semapv:UnspecifiedMatching -OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:14329 semapv:UnspecifiedMatching -OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:SPANXB1 semapv:UnspecifiedMatching -OMIM:300669 SPANXB1 skos:exactMatch ncbigene:728695 semapv:UnspecifiedMatching -OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:14332 semapv:UnspecifiedMatching -OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:SPANXD semapv:UnspecifiedMatching -OMIM:300670 SPANXD skos:exactMatch ncbigene:64648 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching -OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:25235 semapv:UnspecifiedMatching -OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:MOSPD1 semapv:UnspecifiedMatching -OMIM:300674 MOSPD1 skos:exactMatch ncbigene:56180 semapv:UnspecifiedMatching -OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:18742 semapv:UnspecifiedMatching -OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:PNMA3 semapv:UnspecifiedMatching -OMIM:300675 PNMA3 skos:exactMatch ncbigene:29944 semapv:UnspecifiedMatching -OMIM:300677 TXLNG skos:exactMatch UMLS:C1425616 semapv:UnspecifiedMatching -OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:18578 semapv:UnspecifiedMatching -OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:TXLNG semapv:UnspecifiedMatching -OMIM:300677 TXLNG skos:exactMatch ncbigene:55787 semapv:UnspecifiedMatching -OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:20476 semapv:UnspecifiedMatching -OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:DUSP21 semapv:UnspecifiedMatching -OMIM:300678 DUSP21 skos:exactMatch ncbigene:63904 semapv:UnspecifiedMatching -OMIM:300680 PNCK skos:exactMatch hgnc.symbol:13415 semapv:UnspecifiedMatching -OMIM:300680 PNCK skos:exactMatch hgnc.symbol:PNCK semapv:UnspecifiedMatching -OMIM:300680 PNCK skos:exactMatch ncbigene:139728 semapv:UnspecifiedMatching -OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:23483 semapv:UnspecifiedMatching -OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:DOCK11 semapv:UnspecifiedMatching -OMIM:300681 DOCK11 skos:exactMatch ncbigene:139818 semapv:UnspecifiedMatching -OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:31881 semapv:UnspecifiedMatching -OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:MIR424 semapv:UnspecifiedMatching -OMIM:300682 MIR424 skos:exactMatch ncbigene:494336 semapv:UnspecifiedMatching -OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:15848 semapv:UnspecifiedMatching -OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:SEPTIN6 semapv:UnspecifiedMatching -OMIM:300683 SEPT6 skos:exactMatch ncbigene:23157 semapv:UnspecifiedMatching -OMIM:300684 XKRX skos:exactMatch hgnc.symbol:29845 semapv:UnspecifiedMatching -OMIM:300684 XKRX skos:exactMatch hgnc.symbol:XKRX semapv:UnspecifiedMatching -OMIM:300684 XKRX skos:exactMatch ncbigene:402415 semapv:UnspecifiedMatching -OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:30798 semapv:UnspecifiedMatching -OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:PRRG3 semapv:UnspecifiedMatching -OMIM:300685 PRRG3 skos:exactMatch ncbigene:79057 semapv:UnspecifiedMatching -OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:26069 semapv:UnspecifiedMatching -OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:MIR448 semapv:UnspecifiedMatching -OMIM:300686 MIR448 skos:exactMatch ncbigene:554212 semapv:UnspecifiedMatching -OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:20794 semapv:UnspecifiedMatching -OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:ERCC6L semapv:UnspecifiedMatching -OMIM:300687 ERCC6L skos:exactMatch ncbigene:54821 semapv:UnspecifiedMatching -OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:25657 semapv:UnspecifiedMatching -OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:BCORL1 semapv:UnspecifiedMatching -OMIM:300688 BCORL1 skos:exactMatch ncbigene:63035 semapv:UnspecifiedMatching -OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:19161 semapv:UnspecifiedMatching -OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:STARD8 semapv:UnspecifiedMatching -OMIM:300689 STARD8 skos:exactMatch ncbigene:9754 semapv:UnspecifiedMatching -OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:1036 semapv:UnspecifiedMatching -OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:BEX1 semapv:UnspecifiedMatching -OMIM:300690 BEX1 skos:exactMatch ncbigene:55859 semapv:UnspecifiedMatching -OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:30933 semapv:UnspecifiedMatching -OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:BEX2 semapv:UnspecifiedMatching -OMIM:300691 BEX2 skos:exactMatch ncbigene:84707 semapv:UnspecifiedMatching -OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:25475 semapv:UnspecifiedMatching -OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:BEX4 semapv:UnspecifiedMatching -OMIM:300692 BEX4 skos:exactMatch ncbigene:56271 semapv:UnspecifiedMatching -OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:27990 semapv:UnspecifiedMatching -OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:BEX5 semapv:UnspecifiedMatching -OMIM:300693 BEX5 skos:exactMatch ncbigene:340542 semapv:UnspecifiedMatching -OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:31603 semapv:UnspecifiedMatching -OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:MIR223 semapv:UnspecifiedMatching -OMIM:300694 MIR223 skos:exactMatch ncbigene:407008 semapv:UnspecifiedMatching -OMIM:300697 HUWE1 skos:exactMatch UMLS:C1537395 semapv:UnspecifiedMatching -OMIM:300697 HUWE1 skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching -OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:30892 semapv:UnspecifiedMatching -OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:HUWE1 semapv:UnspecifiedMatching -OMIM:300697 HUWE1 skos:exactMatch ncbigene:10075 semapv:UnspecifiedMatching -OMIM:300698 TMEM47 skos:exactMatch hgnc.symbol:18515 semapv:UnspecifiedMatching -OMIM:300698 TMEM47 skos:exactMatch hgnc.symbol:TMEM47 semapv:UnspecifiedMatching -OMIM:300698 TMEM47 skos:exactMatch ncbigene:83604 semapv:UnspecifiedMatching -OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch Orphanet:364028 semapv:UnspecifiedMatching -OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch UMLS:C2678051 semapv:UnspecifiedMatching -OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:27273 semapv:UnspecifiedMatching -OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:ZCCHC12 semapv:UnspecifiedMatching -OMIM:300701 ZCCHC12 skos:exactMatch ncbigene:170261 semapv:UnspecifiedMatching -OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:23793 semapv:UnspecifiedMatching -OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:MAGED4 semapv:UnspecifiedMatching -OMIM:300702 MAGED4 skos:exactMatch ncbigene:728239 semapv:UnspecifiedMatching -OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:28434 semapv:UnspecifiedMatching -OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:CCNQ semapv:UnspecifiedMatching -OMIM:300708 CCNQ skos:exactMatch ncbigene:92002 semapv:UnspecifiedMatching -OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:25402 semapv:UnspecifiedMatching -OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:OTUD5 semapv:UnspecifiedMatching -OMIM:300713 OTUD5 skos:exactMatch ncbigene:55593 semapv:UnspecifiedMatching -OMIM:300714 OTUD6A skos:exactMatch hgnc.symbol:32312 semapv:UnspecifiedMatching -OMIM:300714 OTUD6A skos:exactMatch hgnc.symbol:OTUD6A semapv:UnspecifiedMatching -OMIM:300714 OTUD6A skos:exactMatch ncbigene:139562 semapv:UnspecifiedMatching -OMIM:300715 MAGT1 skos:exactMatch hgnc.symbol:28880 semapv:UnspecifiedMatching -OMIM:300715 MAGT1 skos:exactMatch hgnc.symbol:MAGT1 semapv:UnspecifiedMatching -OMIM:300715 MAGT1 skos:exactMatch ncbigene:84061 semapv:UnspecifiedMatching -OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching -OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch UMLS:C2678034 semapv:UnspecifiedMatching -OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:4099 semapv:UnspecifiedMatching -OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:GAGE2A semapv:UnspecifiedMatching -OMIM:300720 GAGE2A skos:exactMatch ncbigene:729447 semapv:UnspecifiedMatching -OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:31484 semapv:UnspecifiedMatching -OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:MIRLET7F2 semapv:UnspecifiedMatching -OMIM:300721 MIRLET7F2 skos:exactMatch ncbigene:406889 semapv:UnspecifiedMatching -OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:31576 semapv:UnspecifiedMatching -OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:MIR19B2 semapv:UnspecifiedMatching -OMIM:300722 MIR19B2 skos:exactMatch ncbigene:406981 semapv:UnspecifiedMatching -OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:15588 semapv:UnspecifiedMatching -OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:SYTL4 semapv:UnspecifiedMatching -OMIM:300723 SYTL4 skos:exactMatch ncbigene:94121 semapv:UnspecifiedMatching -OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:19701 semapv:UnspecifiedMatching -OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:CNKSR2 semapv:UnspecifiedMatching -OMIM:300724 CNKSR2 skos:exactMatch ncbigene:22866 semapv:UnspecifiedMatching -OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:19901 semapv:UnspecifiedMatching -OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:RRAGB semapv:UnspecifiedMatching -OMIM:300725 RRAGB skos:exactMatch ncbigene:10325 semapv:UnspecifiedMatching -OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:31957 semapv:UnspecifiedMatching -OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:GAGE2B semapv:UnspecifiedMatching -OMIM:300726 GAGE2B skos:exactMatch ncbigene:645037 semapv:UnspecifiedMatching -OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:28402 semapv:UnspecifiedMatching -OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:GAGE12C semapv:UnspecifiedMatching -OMIM:300727 GAGE12C skos:exactMatch ncbigene:729422 semapv:UnspecifiedMatching -OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:31904 semapv:UnspecifiedMatching -OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:GAGE12D semapv:UnspecifiedMatching -OMIM:300728 GAGE12D skos:exactMatch ncbigene:100132399 semapv:UnspecifiedMatching -OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:31905 semapv:UnspecifiedMatching -OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:GAGE12E semapv:UnspecifiedMatching -OMIM:300729 GAGE12E skos:exactMatch ncbigene:729431 semapv:UnspecifiedMatching -OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:31906 semapv:UnspecifiedMatching -OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:GAGE12F semapv:UnspecifiedMatching -OMIM:300730 GAGE12F skos:exactMatch ncbigene:100008586 semapv:UnspecifiedMatching -OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:31907 semapv:UnspecifiedMatching -OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:GAGE12G semapv:UnspecifiedMatching -OMIM:300731 GAGE12G skos:exactMatch ncbigene:645073 semapv:UnspecifiedMatching -OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:31908 semapv:UnspecifiedMatching -OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:GAGE12H semapv:UnspecifiedMatching -OMIM:300732 GAGE12H skos:exactMatch ncbigene:729442 semapv:UnspecifiedMatching -OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:17778 semapv:UnspecifiedMatching -OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:GAGE12J semapv:UnspecifiedMatching -OMIM:300733 GAGE12J skos:exactMatch ncbigene:729396 semapv:UnspecifiedMatching -OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:29081 semapv:UnspecifiedMatching -OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:GAGE13 semapv:UnspecifiedMatching -OMIM:300734 GAGE13 skos:exactMatch ncbigene:645051 semapv:UnspecifiedMatching -OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:31959 semapv:UnspecifiedMatching -OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:GAGE2D semapv:UnspecifiedMatching -OMIM:300735 GAGE2D skos:exactMatch ncbigene:729408 semapv:UnspecifiedMatching -OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:31960 semapv:UnspecifiedMatching -OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:GAGE2E semapv:UnspecifiedMatching -OMIM:300736 GAGE2E skos:exactMatch ncbigene:26749 semapv:UnspecifiedMatching -OMIM:300737 GAGE10 skos:exactMatch hgnc.symbol:30968 semapv:UnspecifiedMatching -OMIM:300737 GAGE10 skos:exactMatch hgnc.symbol:GAGE10 semapv:UnspecifiedMatching -OMIM:300737 GAGE10 skos:exactMatch ncbigene:102724473 semapv:UnspecifiedMatching -OMIM:300738 PAGE2 skos:exactMatch hgnc.symbol:31804 semapv:UnspecifiedMatching -OMIM:300738 PAGE2 skos:exactMatch hgnc.symbol:PAGE2 semapv:UnspecifiedMatching -OMIM:300738 PAGE2 skos:exactMatch ncbigene:203569 semapv:UnspecifiedMatching -OMIM:300739 PAGE3 skos:exactMatch hgnc.symbol:4110 semapv:UnspecifiedMatching -OMIM:300739 PAGE3 skos:exactMatch hgnc.symbol:PAGE3 semapv:UnspecifiedMatching -OMIM:300739 PAGE3 skos:exactMatch ncbigene:139793 semapv:UnspecifiedMatching -OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:14618 semapv:UnspecifiedMatching -OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:XAGE3 semapv:UnspecifiedMatching -OMIM:300740 XAGE3 skos:exactMatch ncbigene:170626 semapv:UnspecifiedMatching -OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:16949 semapv:UnspecifiedMatching -OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:FAM120C semapv:UnspecifiedMatching -OMIM:300741 FAM120C skos:exactMatch ncbigene:54954 semapv:UnspecifiedMatching -OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:4111 semapv:UnspecifiedMatching -OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:XAGE1A semapv:UnspecifiedMatching -OMIM:300742 XAGE1A skos:exactMatch ncbigene:653220 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C1366464 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C3275410 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C4016495 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C4016496 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C4016497 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch hgnc.symbol:3551 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch hgnc.symbol:F9 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch ncbigene:2158 semapv:UnspecifiedMatching -OMIM:300747 STS skos:exactMatch hgnc.symbol:11425 semapv:UnspecifiedMatching -OMIM:300747 STS skos:exactMatch hgnc.symbol:STS semapv:UnspecifiedMatching -OMIM:300747 STS skos:exactMatch ncbigene:412 semapv:UnspecifiedMatching -OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:4533 semapv:UnspecifiedMatching -OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:GPR82 semapv:UnspecifiedMatching -OMIM:300748 GPR82 skos:exactMatch ncbigene:27197 semapv:UnspecifiedMatching -OMIM:300753 APOO skos:exactMatch hgnc.symbol:28727 semapv:UnspecifiedMatching -OMIM:300753 APOO skos:exactMatch hgnc.symbol:APOO semapv:UnspecifiedMatching -OMIM:300753 APOO skos:exactMatch ncbigene:79135 semapv:UnspecifiedMatching -OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:17306 semapv:UnspecifiedMatching -OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:TAF9B semapv:UnspecifiedMatching -OMIM:300754 TAF9B skos:exactMatch ncbigene:51616 semapv:UnspecifiedMatching -OMIM:300757 RP2 skos:exactMatch hgnc.symbol:10274 semapv:UnspecifiedMatching -OMIM:300757 RP2 skos:exactMatch hgnc.symbol:RP2 semapv:UnspecifiedMatching -OMIM:300757 RP2 skos:exactMatch ncbigene:6102 semapv:UnspecifiedMatching -OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:24934 semapv:UnspecifiedMatching -OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:MAGEE1 semapv:UnspecifiedMatching -OMIM:300759 MAGEE1 skos:exactMatch ncbigene:57692 semapv:UnspecifiedMatching -OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:24935 semapv:UnspecifiedMatching -OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:MAGEE2 semapv:UnspecifiedMatching -OMIM:300760 MAGEE2 skos:exactMatch ncbigene:139599 semapv:UnspecifiedMatching -OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:25377 semapv:UnspecifiedMatching -OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:MAGEB10 semapv:UnspecifiedMatching -OMIM:300761 MAGEB10 skos:exactMatch ncbigene:139422 semapv:UnspecifiedMatching -OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:21188 semapv:UnspecifiedMatching -OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:MAGEB16 semapv:UnspecifiedMatching -OMIM:300762 MAGEB16 skos:exactMatch ncbigene:139604 semapv:UnspecifiedMatching -OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:17418 semapv:UnspecifiedMatching -OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:MAGEB17 semapv:UnspecifiedMatching -OMIM:300763 MAGEB17 skos:exactMatch ncbigene:645864 semapv:UnspecifiedMatching -OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:31909 semapv:UnspecifiedMatching -OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:MAGEA9B semapv:UnspecifiedMatching -OMIM:300764 MAGEA9B skos:exactMatch ncbigene:728269 semapv:UnspecifiedMatching -OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:22880 semapv:UnspecifiedMatching -OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:MAGED4B semapv:UnspecifiedMatching -OMIM:300765 MAGED4B skos:exactMatch ncbigene:81557 semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch UMLS:C2239784 semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch hgnc.symbol:29873 semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch hgnc.symbol:NKAP semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch ncbigene:79576 semapv:UnspecifiedMatching -OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:30305 semapv:UnspecifiedMatching -OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:RPA4 semapv:UnspecifiedMatching -OMIM:300767 RPA4 skos:exactMatch ncbigene:29935 semapv:UnspecifiedMatching -OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:2582 semapv:UnspecifiedMatching -OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:CYLC1 semapv:UnspecifiedMatching -OMIM:300768 CYLC1 skos:exactMatch ncbigene:1538 semapv:UnspecifiedMatching -OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:31604 semapv:UnspecifiedMatching -OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:MIR224 semapv:UnspecifiedMatching -OMIM:300769 MIR224 skos:exactMatch ncbigene:407009 semapv:UnspecifiedMatching -OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:28336 semapv:UnspecifiedMatching -OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:TCEAL7 semapv:UnspecifiedMatching -OMIM:300771 TCEAL7 skos:exactMatch ncbigene:56849 semapv:UnspecifiedMatching -OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:24603 semapv:UnspecifiedMatching -OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:TFDP3 semapv:UnspecifiedMatching -OMIM:300772 TFDP3 skos:exactMatch ncbigene:51270 semapv:UnspecifiedMatching -OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:17889 semapv:UnspecifiedMatching -OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:APEX2 semapv:UnspecifiedMatching -OMIM:300773 APEX2 skos:exactMatch ncbigene:27301 semapv:UnspecifiedMatching -OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:16499 semapv:UnspecifiedMatching -OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:RAB39B semapv:UnspecifiedMatching -OMIM:300774 RAB39B skos:exactMatch ncbigene:116442 semapv:UnspecifiedMatching -OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:3319 semapv:UnspecifiedMatching -OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:ELF4 semapv:UnspecifiedMatching -OMIM:300775 ELF4 skos:exactMatch ncbigene:2000 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch UMLS:C1823172 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:30881 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:ALG13 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch ncbigene:79868 semapv:UnspecifiedMatching -OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:18308 semapv:UnspecifiedMatching -OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:TMLHE semapv:UnspecifiedMatching -OMIM:300777 TMLHE skos:exactMatch ncbigene:55217 semapv:UnspecifiedMatching -OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching -OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching -OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:33282 semapv:UnspecifiedMatching -OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:CT47A1 semapv:UnspecifiedMatching -OMIM:300780 CT47A1 skos:exactMatch ncbigene:728096 semapv:UnspecifiedMatching -OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:33283 semapv:UnspecifiedMatching -OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:CT47A2 semapv:UnspecifiedMatching -OMIM:300781 CT47A2 skos:exactMatch ncbigene:728090 semapv:UnspecifiedMatching -OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:33284 semapv:UnspecifiedMatching -OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:CT47A3 semapv:UnspecifiedMatching -OMIM:300782 CT47A3 skos:exactMatch ncbigene:728082 semapv:UnspecifiedMatching -OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:33285 semapv:UnspecifiedMatching -OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:CT47A4 semapv:UnspecifiedMatching -OMIM:300783 CT47A4 skos:exactMatch ncbigene:728075 semapv:UnspecifiedMatching -OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:33286 semapv:UnspecifiedMatching -OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:CT47A5 semapv:UnspecifiedMatching -OMIM:300784 CT47A5 skos:exactMatch ncbigene:728072 semapv:UnspecifiedMatching -OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:33287 semapv:UnspecifiedMatching -OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:CT47A6 semapv:UnspecifiedMatching -OMIM:300785 CT47A6 skos:exactMatch ncbigene:728062 semapv:UnspecifiedMatching -OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:33288 semapv:UnspecifiedMatching -OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:CT47A7 semapv:UnspecifiedMatching -OMIM:300786 CT47A7 skos:exactMatch ncbigene:653282 semapv:UnspecifiedMatching -OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:33289 semapv:UnspecifiedMatching -OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:CT47A8 semapv:UnspecifiedMatching -OMIM:300787 CT47A8 skos:exactMatch ncbigene:728049 semapv:UnspecifiedMatching -OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:33290 semapv:UnspecifiedMatching -OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:CT47A9 semapv:UnspecifiedMatching -OMIM:300788 CT47A9 skos:exactMatch ncbigene:728042 semapv:UnspecifiedMatching -OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:33291 semapv:UnspecifiedMatching -OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:CT47A10 semapv:UnspecifiedMatching -OMIM:300789 CT47A10 skos:exactMatch ncbigene:728036 semapv:UnspecifiedMatching -OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:33293 semapv:UnspecifiedMatching -OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:CT47B1 semapv:UnspecifiedMatching -OMIM:300790 CT47B1 skos:exactMatch ncbigene:643311 semapv:UnspecifiedMatching -OMIM:300791 NRK skos:exactMatch hgnc.symbol:25391 semapv:UnspecifiedMatching -OMIM:300791 NRK skos:exactMatch hgnc.symbol:NRK semapv:UnspecifiedMatching -OMIM:300791 NRK skos:exactMatch ncbigene:203447 semapv:UnspecifiedMatching -OMIM:300792 MIR106A skos:exactMatch UMLS:C1537763 semapv:UnspecifiedMatching -OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:31494 semapv:UnspecifiedMatching -OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:MIR106A semapv:UnspecifiedMatching -OMIM:300792 MIR106A skos:exactMatch ncbigene:406899 semapv:UnspecifiedMatching -OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:28400 semapv:UnspecifiedMatching -OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:CT45A2 semapv:UnspecifiedMatching -OMIM:300793 CT45A2 skos:exactMatch ncbigene:728911 semapv:UnspecifiedMatching -OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:33268 semapv:UnspecifiedMatching -OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:CT45A3 semapv:UnspecifiedMatching -OMIM:300794 CT45A3 skos:exactMatch ncbigene:441519 semapv:UnspecifiedMatching -OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:33270 semapv:UnspecifiedMatching -OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:CT45A5 semapv:UnspecifiedMatching -OMIM:300796 CT45A5 skos:exactMatch ncbigene:441521 semapv:UnspecifiedMatching -OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:33271 semapv:UnspecifiedMatching -OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:CT45A6 semapv:UnspecifiedMatching -OMIM:300797 CT45A6 skos:exactMatch ncbigene:541465 semapv:UnspecifiedMatching -OMIM:300798 PHKA2 skos:exactMatch hgnc.symbol:8926 semapv:UnspecifiedMatching -OMIM:300798 PHKA2 skos:exactMatch hgnc.symbol:PHKA2 semapv:UnspecifiedMatching -OMIM:300798 PHKA2 skos:exactMatch ncbigene:5256 semapv:UnspecifiedMatching -OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:163953 semapv:UnspecifiedMatching -OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching -OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching -OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:39081 semapv:UnspecifiedMatching -OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:FMR1-AS1 semapv:UnspecifiedMatching -OMIM:300805 FMR1AS1 skos:exactMatch ncbigene:100126270 semapv:UnspecifiedMatching -OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:3776 semapv:UnspecifiedMatching -OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:AFF2 semapv:UnspecifiedMatching -OMIM:300806 AFF2 skos:exactMatch ncbigene:2334 semapv:UnspecifiedMatching -OMIM:300807 thrombophilia, x-linked, due to factor 9 defect skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching -OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:20145 semapv:UnspecifiedMatching -OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:GPR143 semapv:UnspecifiedMatching -OMIM:300808 GPR143 skos:exactMatch ncbigene:4935 semapv:UnspecifiedMatching -OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:31649 semapv:UnspecifiedMatching -OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:MIR98 semapv:UnspecifiedMatching -OMIM:300810 MIR98 skos:exactMatch ncbigene:407054 semapv:UnspecifiedMatching -OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:31492 semapv:UnspecifiedMatching -OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:MIR105-1 semapv:UnspecifiedMatching -OMIM:300811 MIR105-1 skos:exactMatch ncbigene:406897 semapv:UnspecifiedMatching -OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:31493 semapv:UnspecifiedMatching -OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:MIR105-2 semapv:UnspecifiedMatching -OMIM:300812 MIR105-2 skos:exactMatch ncbigene:406898 semapv:UnspecifiedMatching -OMIM:300814 nystagmus 6, congenital, X-linked skos:exactMatch UMLS:C3151752 semapv:UnspecifiedMatching -OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:26233 semapv:UnspecifiedMatching -OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:EFHC2 semapv:UnspecifiedMatching -OMIM:300817 EFHC2 skos:exactMatch ncbigene:80258 semapv:UnspecifiedMatching -OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch Orphanet:447 semapv:UnspecifiedMatching -OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch UMLS:C3806670 semapv:UnspecifiedMatching -OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:28855 semapv:UnspecifiedMatching -OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:ZNF630 semapv:UnspecifiedMatching -OMIM:300819 ZNF630 skos:exactMatch ncbigene:57232 semapv:UnspecifiedMatching -OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:31689 semapv:UnspecifiedMatching -OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:MAP3K15 semapv:UnspecifiedMatching -OMIM:300820 MAP3K15 skos:exactMatch ncbigene:389840 semapv:UnspecifiedMatching -OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:4206 semapv:UnspecifiedMatching -OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:OPN1MW semapv:UnspecifiedMatching -OMIM:300821 OPN1MW skos:exactMatch ncbigene:2652 semapv:UnspecifiedMatching -OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:9936 semapv:UnspecifiedMatching -OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:OPN1LW semapv:UnspecifiedMatching -OMIM:300822 OPN1LW skos:exactMatch ncbigene:5956 semapv:UnspecifiedMatching -OMIM:300823 IDS skos:exactMatch hgnc.symbol:5389 semapv:UnspecifiedMatching -OMIM:300823 IDS skos:exactMatch hgnc.symbol:IDS semapv:UnspecifiedMatching -OMIM:300823 IDS skos:exactMatch ncbigene:3423 semapv:UnspecifiedMatching -OMIM:300824 opn1lw and opn1mw genes, controller of skos:exactMatch ncbigene:107604627 semapv:UnspecifiedMatching -OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:9890 semapv:UnspecifiedMatching -OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:RBBP7 semapv:UnspecifiedMatching -OMIM:300825 RBBP7 skos:exactMatch ncbigene:5931 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch UMLS:C1420449 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:11355 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:STAG2 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch ncbigene:10735 semapv:UnspecifiedMatching -OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:3672 semapv:UnspecifiedMatching -OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:FGF16 semapv:UnspecifiedMatching -OMIM:300827 FGF16 skos:exactMatch ncbigene:8823 semapv:UnspecifiedMatching -OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:26392 semapv:UnspecifiedMatching -OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:PTCHD1 semapv:UnspecifiedMatching -OMIM:300828 PTCHD1 skos:exactMatch ncbigene:139411 semapv:UnspecifiedMatching -OMIM:300831 ck syndrome skos:exactMatch Orphanet:251383 semapv:UnspecifiedMatching -OMIM:300831 ck syndrome skos:exactMatch UMLS:C3151781 semapv:UnspecifiedMatching -OMIM:300832 JPX skos:exactMatch hgnc.symbol:37191 semapv:UnspecifiedMatching -OMIM:300832 JPX skos:exactMatch hgnc.symbol:JPX semapv:UnspecifiedMatching -OMIM:300832 JPX skos:exactMatch ncbigene:554203 semapv:UnspecifiedMatching -OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch Orphanet:363727 semapv:UnspecifiedMatching -OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch UMLS:C3550856 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch UMLS:C1416536 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch UMLS:C4016502 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:6211 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:ANOS1 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch ncbigene:3730 semapv:UnspecifiedMatching -OMIM:300837 DGKK skos:exactMatch hgnc.symbol:32395 semapv:UnspecifiedMatching -OMIM:300837 DGKK skos:exactMatch hgnc.symbol:DGKK semapv:UnspecifiedMatching -OMIM:300837 DGKK skos:exactMatch ncbigene:139189 semapv:UnspecifiedMatching -OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:29007 semapv:UnspecifiedMatching -OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:FRMPD4 semapv:UnspecifiedMatching -OMIM:300838 FRMPD4 skos:exactMatch ncbigene:9758 semapv:UnspecifiedMatching -OMIM:300839 RS1 skos:exactMatch hgnc.symbol:10457 semapv:UnspecifiedMatching -OMIM:300839 RS1 skos:exactMatch hgnc.symbol:RS1 semapv:UnspecifiedMatching -OMIM:300839 RS1 skos:exactMatch ncbigene:6247 semapv:UnspecifiedMatching -OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:28911 semapv:UnspecifiedMatching -OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:PRAF2 semapv:UnspecifiedMatching -OMIM:300840 PRAF2 skos:exactMatch ncbigene:11230 semapv:UnspecifiedMatching -OMIM:300841 F8 skos:exactMatch hgnc.symbol:3546 semapv:UnspecifiedMatching -OMIM:300841 F8 skos:exactMatch hgnc.symbol:F8 semapv:UnspecifiedMatching -OMIM:300841 F8 skos:exactMatch ncbigene:2157 semapv:UnspecifiedMatching -OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:18237 semapv:UnspecifiedMatching -OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:CD99L2 semapv:UnspecifiedMatching -OMIM:300846 CD99L2 skos:exactMatch ncbigene:83692 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch UMLS:C1824547 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:28909 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:CCDC22 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch ncbigene:28952 semapv:UnspecifiedMatching -OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:17152 semapv:UnspecifiedMatching -OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:ACOT9 semapv:UnspecifiedMatching -OMIM:300862 ACOT9 skos:exactMatch ncbigene:23597 semapv:UnspecifiedMatching -OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:32138 semapv:UnspecifiedMatching -OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:MIR503 semapv:UnspecifiedMatching -OMIM:300865 MIR503 skos:exactMatch ncbigene:574506 semapv:UnspecifiedMatching -OMIM:300866 MIR510 skos:exactMatch hgnc.symbol:32147 semapv:UnspecifiedMatching -OMIM:300866 MIR510 skos:exactMatch hgnc.symbol:MIR510 semapv:UnspecifiedMatching -OMIM:300866 MIR510 skos:exactMatch ncbigene:574515 semapv:UnspecifiedMatching -OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 semapv:UnspecifiedMatching -OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching -OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:28746 semapv:UnspecifiedMatching -OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:FUNDC1 semapv:UnspecifiedMatching -OMIM:300871 FUNDC1 skos:exactMatch ncbigene:139341 semapv:UnspecifiedMatching -OMIM:300873 GNL3L skos:exactMatch hgnc.symbol:25553 semapv:UnspecifiedMatching -OMIM:300873 GNL3L skos:exactMatch hgnc.symbol:GNL3L semapv:UnspecifiedMatching -OMIM:300873 GNL3L skos:exactMatch ncbigene:54552 semapv:UnspecifiedMatching -OMIM:300874 MIR508 skos:exactMatch hgnc.symbol:32145 semapv:UnspecifiedMatching -OMIM:300874 MIR508 skos:exactMatch hgnc.symbol:MIR508 semapv:UnspecifiedMatching -OMIM:300874 MIR508 skos:exactMatch ncbigene:574513 semapv:UnspecifiedMatching -OMIM:300875 MIR509-1 skos:exactMatch hgnc.symbol:32146 semapv:UnspecifiedMatching -OMIM:300875 MIR509-1 skos:exactMatch hgnc.symbol:MIR509-1 semapv:UnspecifiedMatching -OMIM:300875 MIR509-1 skos:exactMatch ncbigene:574514 semapv:UnspecifiedMatching -OMIM:300876 MIR509-3 skos:exactMatch hgnc.symbol:33675 semapv:UnspecifiedMatching -OMIM:300876 MIR509-3 skos:exactMatch hgnc.symbol:MIR509-3 semapv:UnspecifiedMatching -OMIM:300876 MIR509-3 skos:exactMatch ncbigene:100126337 semapv:UnspecifiedMatching -OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:32143 semapv:UnspecifiedMatching -OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:MIR506 semapv:UnspecifiedMatching -OMIM:300877 MIR506 skos:exactMatch ncbigene:574511 semapv:UnspecifiedMatching -OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:13910 semapv:UnspecifiedMatching -OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:DMRTC1 semapv:UnspecifiedMatching -OMIM:300878 DMRTC1 skos:exactMatch ncbigene:63947 semapv:UnspecifiedMatching -OMIM:300879 XG skos:exactMatch hgnc.symbol:12806 semapv:UnspecifiedMatching -OMIM:300879 XG skos:exactMatch hgnc.symbol:XG semapv:UnspecifiedMatching -OMIM:300879 XG skos:exactMatch ncbigene:7499 semapv:UnspecifiedMatching -OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:9555 semapv:UnspecifiedMatching -OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:PSMD10 semapv:UnspecifiedMatching -OMIM:300880 PSMD10 skos:exactMatch ncbigene:5716 semapv:UnspecifiedMatching -OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching -OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch UMLS:C3550903 semapv:UnspecifiedMatching -OMIM:300883 SNX12 skos:exactMatch hgnc.symbol:14976 semapv:UnspecifiedMatching -OMIM:300883 SNX12 skos:exactMatch hgnc.symbol:SNX12 semapv:UnspecifiedMatching -OMIM:300883 SNX12 skos:exactMatch ncbigene:29934 semapv:UnspecifiedMatching -OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch Orphanet:324422 semapv:UnspecifiedMatching -OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching -OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching -OMIM:300885 COX7B skos:exactMatch hgnc.symbol:2291 semapv:UnspecifiedMatching -OMIM:300885 COX7B skos:exactMatch hgnc.symbol:COX7B semapv:UnspecifiedMatching -OMIM:300885 COX7B skos:exactMatch ncbigene:1349 semapv:UnspecifiedMatching -OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch Orphanet:329235 semapv:UnspecifiedMatching -OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch UMLS:C3550963 semapv:UnspecifiedMatching -OMIM:300889 ZC3H12B skos:exactMatch hgnc.symbol:17407 semapv:UnspecifiedMatching -OMIM:300889 ZC3H12B skos:exactMatch hgnc.symbol:ZC3H12B semapv:UnspecifiedMatching -OMIM:300889 ZC3H12B skos:exactMatch ncbigene:340554 semapv:UnspecifiedMatching -OMIM:300890 ASB9 skos:exactMatch hgnc.symbol:17184 semapv:UnspecifiedMatching -OMIM:300890 ASB9 skos:exactMatch hgnc.symbol:ASB9 semapv:UnspecifiedMatching -OMIM:300890 ASB9 skos:exactMatch ncbigene:140462 semapv:UnspecifiedMatching -OMIM:300891 ASB12 skos:exactMatch hgnc.symbol:19763 semapv:UnspecifiedMatching -OMIM:300891 ASB12 skos:exactMatch hgnc.symbol:ASB12 semapv:UnspecifiedMatching -OMIM:300891 ASB12 skos:exactMatch ncbigene:142689 semapv:UnspecifiedMatching -OMIM:300892 LINC00850 skos:exactMatch hgnc.symbol:45092 semapv:UnspecifiedMatching -OMIM:300892 LINC00850 skos:exactMatch hgnc.symbol:LINC00850 semapv:UnspecifiedMatching -OMIM:300892 LINC00850 skos:exactMatch ncbigene:101241891 semapv:UnspecifiedMatching -OMIM:300893 MIR502 skos:exactMatch hgnc.symbol:32136 semapv:UnspecifiedMatching -OMIM:300893 MIR502 skos:exactMatch hgnc.symbol:MIR502 semapv:UnspecifiedMatching -OMIM:300893 MIR502 skos:exactMatch ncbigene:574504 semapv:UnspecifiedMatching -OMIM:300895 ohdo syndrome, X-linked skos:exactMatch Orphanet:293707 semapv:UnspecifiedMatching -OMIM:300895 ohdo syndrome, X-linked skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching -OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch Orphanet:356961 semapv:UnspecifiedMatching -OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch UMLS:C1537464 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:24931 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:ZC4H2 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch ncbigene:55906 semapv:UnspecifiedMatching -OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:48926 semapv:UnspecifiedMatching -OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:CDR1-AS semapv:UnspecifiedMatching -OMIM:300898 CDR1AS skos:exactMatch ncbigene:103611090 semapv:UnspecifiedMatching -OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:10350 semapv:UnspecifiedMatching -OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:RPL39 semapv:UnspecifiedMatching -OMIM:300899 RPL39 skos:exactMatch ncbigene:6170 semapv:UnspecifiedMatching -OMIM:300901 XACT skos:exactMatch hgnc.symbol:45056 semapv:UnspecifiedMatching -OMIM:300901 XACT skos:exactMatch hgnc.symbol:XACT semapv:UnspecifiedMatching -OMIM:300901 XACT skos:exactMatch ncbigene:105463123 semapv:UnspecifiedMatching -OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:10359 semapv:UnspecifiedMatching -OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:RPL36A semapv:UnspecifiedMatching -OMIM:300902 RPL36A skos:exactMatch ncbigene:6173 semapv:UnspecifiedMatching -OMIM:300903 GPR174 skos:exactMatch UMLS:C1539610 semapv:UnspecifiedMatching -OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:30245 semapv:UnspecifiedMatching -OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:GPR174 semapv:UnspecifiedMatching -OMIM:300903 GPR174 skos:exactMatch ncbigene:84636 semapv:UnspecifiedMatching -OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:6128 semapv:UnspecifiedMatching -OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:IRS4 semapv:UnspecifiedMatching -OMIM:300904 IRS4 skos:exactMatch ncbigene:8471 semapv:UnspecifiedMatching -OMIM:300906 PDK3 skos:exactMatch hgnc.symbol:8811 semapv:UnspecifiedMatching -OMIM:300906 PDK3 skos:exactMatch hgnc.symbol:PDK3 semapv:UnspecifiedMatching -OMIM:300906 PDK3 skos:exactMatch ncbigene:5165 semapv:UnspecifiedMatching -OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:2484 semapv:UnspecifiedMatching -OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:CSTF2 semapv:UnspecifiedMatching -OMIM:300907 CSTF2 skos:exactMatch ncbigene:1478 semapv:UnspecifiedMatching -OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:22082 semapv:UnspecifiedMatching -OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:VMA21 semapv:UnspecifiedMatching -OMIM:300913 VMA21 skos:exactMatch ncbigene:203547 semapv:UnspecifiedMatching -OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:18743 semapv:UnspecifiedMatching -OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:PNMA5 semapv:UnspecifiedMatching -OMIM:300916 PNMA5 skos:exactMatch ncbigene:114824 semapv:UnspecifiedMatching -OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:28248 semapv:UnspecifiedMatching -OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:PNMA6A semapv:UnspecifiedMatching -OMIM:300917 PNMA6A skos:exactMatch ncbigene:84968 semapv:UnspecifiedMatching -OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:24173 semapv:UnspecifiedMatching -OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:ATXN3L semapv:UnspecifiedMatching -OMIM:300920 ATXN3L skos:exactMatch ncbigene:92552 semapv:UnspecifiedMatching -OMIM:300921 BHLHB9 skos:exactMatch hgnc.symbol:GPRASP3 semapv:UnspecifiedMatching -OMIM:300921 BHLHB9 skos:exactMatch ncbigene:80823 semapv:UnspecifiedMatching -OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:1934 semapv:UnspecifiedMatching -OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:CHIC1 semapv:UnspecifiedMatching -OMIM:300922 CHIC1 skos:exactMatch ncbigene:53344 semapv:UnspecifiedMatching -OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:23252 semapv:UnspecifiedMatching -OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:AWAT1 semapv:UnspecifiedMatching -OMIM:300924 AWAT1 skos:exactMatch ncbigene:158833 semapv:UnspecifiedMatching -OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:23251 semapv:UnspecifiedMatching -OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:AWAT2 semapv:UnspecifiedMatching -OMIM:300925 AWAT2 skos:exactMatch ncbigene:158835 semapv:UnspecifiedMatching -OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:23250 semapv:UnspecifiedMatching -OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:DGAT2L6 semapv:UnspecifiedMatching -OMIM:300926 DGAT2L6 skos:exactMatch ncbigene:347516 semapv:UnspecifiedMatching -OMIM:300927 PRDX4 skos:exactMatch hgnc.symbol:17169 semapv:UnspecifiedMatching -OMIM:300927 PRDX4 skos:exactMatch hgnc.symbol:PRDX4 semapv:UnspecifiedMatching -OMIM:300927 PRDX4 skos:exactMatch ncbigene:10549 semapv:UnspecifiedMatching -OMIM:300929 MIR718 skos:exactMatch hgnc.symbol:37317 semapv:UnspecifiedMatching -OMIM:300929 MIR718 skos:exactMatch hgnc.symbol:MIR718 semapv:UnspecifiedMatching -OMIM:300929 MIR718 skos:exactMatch ncbigene:100313781 semapv:UnspecifiedMatching -OMIM:300930 MAP7D3 skos:exactMatch hgnc.symbol:25742 semapv:UnspecifiedMatching -OMIM:300930 MAP7D3 skos:exactMatch hgnc.symbol:MAP7D3 semapv:UnspecifiedMatching -OMIM:300930 MAP7D3 skos:exactMatch ncbigene:79649 semapv:UnspecifiedMatching -OMIM:300931 PIR skos:exactMatch hgnc.symbol:30048 semapv:UnspecifiedMatching -OMIM:300931 PIR skos:exactMatch hgnc.symbol:PIR semapv:UnspecifiedMatching -OMIM:300931 PIR skos:exactMatch ncbigene:8544 semapv:UnspecifiedMatching -OMIM:300933 PIH1D3 skos:exactMatch hgnc.symbol:28570 semapv:UnspecifiedMatching -OMIM:300933 PIH1D3 skos:exactMatch hgnc.symbol:DNAAF6 semapv:UnspecifiedMatching -OMIM:300933 PIH1D3 skos:exactMatch ncbigene:139212 semapv:UnspecifiedMatching -OMIM:300935 PRRG1 skos:exactMatch hgnc.symbol:9469 semapv:UnspecifiedMatching -OMIM:300935 PRRG1 skos:exactMatch hgnc.symbol:PRRG1 semapv:UnspecifiedMatching -OMIM:300935 PRRG1 skos:exactMatch ncbigene:5638 semapv:UnspecifiedMatching -OMIM:300936 FTX skos:exactMatch hgnc.symbol:37190 semapv:UnspecifiedMatching -OMIM:300936 FTX skos:exactMatch hgnc.symbol:FTX semapv:UnspecifiedMatching -OMIM:300936 FTX skos:exactMatch ncbigene:100302692 semapv:UnspecifiedMatching -OMIM:300937 ARHGAP36 skos:exactMatch hgnc.symbol:26388 semapv:UnspecifiedMatching -OMIM:300937 ARHGAP36 skos:exactMatch hgnc.symbol:ARHGAP36 semapv:UnspecifiedMatching -OMIM:300937 ARHGAP36 skos:exactMatch ncbigene:158763 semapv:UnspecifiedMatching -OMIM:300938 MXRA5 skos:exactMatch hgnc.symbol:7539 semapv:UnspecifiedMatching -OMIM:300938 MXRA5 skos:exactMatch hgnc.symbol:MXRA5 semapv:UnspecifiedMatching -OMIM:300938 MXRA5 skos:exactMatch ncbigene:25878 semapv:UnspecifiedMatching -OMIM:300939 TMSB15A skos:exactMatch hgnc.symbol:30744 semapv:UnspecifiedMatching -OMIM:300939 TMSB15A skos:exactMatch hgnc.symbol:TMSB15A semapv:UnspecifiedMatching -OMIM:300939 TMSB15A skos:exactMatch ncbigene:11013 semapv:UnspecifiedMatching -OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:25974 semapv:UnspecifiedMatching -OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:GDPD2 semapv:UnspecifiedMatching -OMIM:300940 GDPD2 skos:exactMatch ncbigene:54857 semapv:UnspecifiedMatching -OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:31894 semapv:UnspecifiedMatching -OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:SLC25A53 semapv:UnspecifiedMatching -OMIM:300941 SLC25A53 skos:exactMatch ncbigene:401612 semapv:UnspecifiedMatching -OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:24294 semapv:UnspecifiedMatching -OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:CSAG1 semapv:UnspecifiedMatching -OMIM:300944 CSAG1 skos:exactMatch ncbigene:158511 semapv:UnspecifiedMatching -OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:25455 semapv:UnspecifiedMatching -OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:TSR2 semapv:UnspecifiedMatching -OMIM:300945 TSR2 skos:exactMatch ncbigene:90121 semapv:UnspecifiedMatching -OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:28910 semapv:UnspecifiedMatching -OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:CCDC120 semapv:UnspecifiedMatching -OMIM:300947 CCDC120 skos:exactMatch ncbigene:90060 semapv:UnspecifiedMatching -OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:8755 semapv:UnspecifiedMatching -OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:PCYT1B semapv:UnspecifiedMatching -OMIM:300948 PCYT1B skos:exactMatch ncbigene:9468 semapv:UnspecifiedMatching -OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:30469 semapv:UnspecifiedMatching -OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:FOXR2 semapv:UnspecifiedMatching -OMIM:300949 FOXR2 skos:exactMatch ncbigene:139628 semapv:UnspecifiedMatching -OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:32024 semapv:UnspecifiedMatching -OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:MIR20B semapv:UnspecifiedMatching -OMIM:300950 MIR20B skos:exactMatch ncbigene:574032 semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch UMLS:C1538859 semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:12974 semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:RNF113A semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch ncbigene:7737 semapv:UnspecifiedMatching -OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching -OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching -OMIM:300954 EOLA1 skos:exactMatch UMLS:C1824828 semapv:UnspecifiedMatching -OMIM:300954 EOLA1 skos:exactMatch hgnc.symbol:28089 semapv:UnspecifiedMatching -OMIM:300954 EOLA1 skos:exactMatch hgnc.symbol:EOLA1 semapv:UnspecifiedMatching -OMIM:300954 EOLA1 skos:exactMatch ncbigene:91966 semapv:UnspecifiedMatching -OMIM:300955 APOOL skos:exactMatch hgnc.symbol:24009 semapv:UnspecifiedMatching -OMIM:300955 APOOL skos:exactMatch hgnc.symbol:APOOL semapv:UnspecifiedMatching -OMIM:300955 APOOL skos:exactMatch ncbigene:139322 semapv:UnspecifiedMatching -OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:18615 semapv:UnspecifiedMatching -OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:BRAFP1 semapv:UnspecifiedMatching -OMIM:300956 BRAFP1 skos:exactMatch ncbigene:286494 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796242 semapv:UnspecifiedMatching -OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching -OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching -OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:25866 semapv:UnspecifiedMatching -OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:DIPK2B semapv:UnspecifiedMatching -OMIM:300959 DIPK2B skos:exactMatch ncbigene:79742 semapv:UnspecifiedMatching -OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:20715 semapv:UnspecifiedMatching -OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:MID1IP1 semapv:UnspecifiedMatching -OMIM:300961 MID1IP1 skos:exactMatch ncbigene:58526 semapv:UnspecifiedMatching -OMIM:300962 GEMIN8 skos:exactMatch UMLS:C1825340 semapv:UnspecifiedMatching -OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:26044 semapv:UnspecifiedMatching -OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:GEMIN8 semapv:UnspecifiedMatching -OMIM:300962 GEMIN8 skos:exactMatch ncbigene:54960 semapv:UnspecifiedMatching -OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:25726 semapv:UnspecifiedMatching -OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:LAS1L semapv:UnspecifiedMatching -OMIM:300964 LAS1L skos:exactMatch ncbigene:81887 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:29245 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:RTL9 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch ncbigene:57529 semapv:UnspecifiedMatching -OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:25169 semapv:UnspecifiedMatching -OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:GPRASP2 semapv:UnspecifiedMatching -OMIM:300969 GPRASP2 skos:exactMatch ncbigene:114928 semapv:UnspecifiedMatching -OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:23485 semapv:UnspecifiedMatching -OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:MORC4 semapv:UnspecifiedMatching -OMIM:300970 MORC4 skos:exactMatch ncbigene:79710 semapv:UnspecifiedMatching -OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching -OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:93604 semapv:UnspecifiedMatching -OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch UMLS:C4310820 semapv:UnspecifiedMatching -OMIM:300972 immunodeficiency 47 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching -OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:51580 semapv:UnspecifiedMatching -OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:RHOXF1P1 semapv:UnspecifiedMatching -OMIM:300973 RHOXF1P1 skos:exactMatch ncbigene:101928941 semapv:UnspecifiedMatching -OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:23148 semapv:UnspecifiedMatching -OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:PLCXD1 semapv:UnspecifiedMatching -OMIM:300974 PLCXD1 skos:exactMatch ncbigene:55344 semapv:UnspecifiedMatching -OMIM:300975 USP27X skos:exactMatch hgnc.symbol:13486 semapv:UnspecifiedMatching -OMIM:300975 USP27X skos:exactMatch hgnc.symbol:USP27X semapv:UnspecifiedMatching -OMIM:300975 USP27X skos:exactMatch ncbigene:389856 semapv:UnspecifiedMatching -OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:28399 semapv:UnspecifiedMatching -OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:TENT5D semapv:UnspecifiedMatching -OMIM:300976 FAM46D skos:exactMatch ncbigene:169966 semapv:UnspecifiedMatching -OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:29347 semapv:UnspecifiedMatching -OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:KLHL15 semapv:UnspecifiedMatching -OMIM:300980 KLHL15 skos:exactMatch ncbigene:80311 semapv:UnspecifiedMatching -OMIM:300981 VCX3B skos:exactMatch hgnc.symbol:31838 semapv:UnspecifiedMatching -OMIM:300981 VCX3B skos:exactMatch hgnc.symbol:VCX3B semapv:UnspecifiedMatching -OMIM:300981 VCX3B skos:exactMatch ncbigene:425054 semapv:UnspecifiedMatching -OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching -OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch UMLS:C4310810 semapv:UnspecifiedMatching -OMIM:300992 NBDY skos:exactMatch hgnc.symbol:50713 semapv:UnspecifiedMatching -OMIM:300992 NBDY skos:exactMatch hgnc.symbol:NBDY semapv:UnspecifiedMatching -OMIM:300992 NBDY skos:exactMatch ncbigene:550643 semapv:UnspecifiedMatching -OMIM:300993 PASD1 skos:exactMatch hgnc.symbol:20686 semapv:UnspecifiedMatching -OMIM:300993 PASD1 skos:exactMatch hgnc.symbol:PASD1 semapv:UnspecifiedMatching -OMIM:300993 PASD1 skos:exactMatch ncbigene:139135 semapv:UnspecifiedMatching -OMIM:300994 HDX skos:exactMatch hgnc.symbol:26411 semapv:UnspecifiedMatching -OMIM:300994 HDX skos:exactMatch hgnc.symbol:HDX semapv:UnspecifiedMatching -OMIM:300994 HDX skos:exactMatch ncbigene:139324 semapv:UnspecifiedMatching -OMIM:300995 KIAA1210 skos:exactMatch hgnc.symbol:29218 semapv:UnspecifiedMatching -OMIM:300995 KIAA1210 skos:exactMatch hgnc.symbol:KIAA1210 semapv:UnspecifiedMatching -OMIM:300995 KIAA1210 skos:exactMatch ncbigene:57481 semapv:UnspecifiedMatching -OMIM:300996 YIPF6 skos:exactMatch UMLS:C1823891 semapv:UnspecifiedMatching -OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:28304 semapv:UnspecifiedMatching -OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:YIPF6 semapv:UnspecifiedMatching -OMIM:300996 YIPF6 skos:exactMatch ncbigene:286451 semapv:UnspecifiedMatching -OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:49627 semapv:UnspecifiedMatching -OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:FIRRE semapv:UnspecifiedMatching -OMIM:300999 FIRRE skos:exactMatch ncbigene:286467 semapv:UnspecifiedMatching -OMIM:301000 wiskott-aldrich syndrome skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching -OMIM:301000 wiskott-aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching -OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:50863 semapv:UnspecifiedMatching -OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:DANT1 semapv:UnspecifiedMatching -OMIM:301001 DANT1 skos:exactMatch ncbigene:106029310 semapv:UnspecifiedMatching -OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:11402 semapv:UnspecifiedMatching -OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:SRPK3 semapv:UnspecifiedMatching -OMIM:301002 SRPK3 skos:exactMatch ncbigene:26576 semapv:UnspecifiedMatching -OMIM:301003 GPKOW skos:exactMatch hgnc.symbol:30677 semapv:UnspecifiedMatching -OMIM:301003 GPKOW skos:exactMatch hgnc.symbol:GPKOW semapv:UnspecifiedMatching -OMIM:301003 GPKOW skos:exactMatch ncbigene:27238 semapv:UnspecifiedMatching -OMIM:301004 DANT2 skos:exactMatch hgnc.symbol:50862 semapv:UnspecifiedMatching -OMIM:301004 DANT2 skos:exactMatch hgnc.symbol:DANT2 semapv:UnspecifiedMatching -OMIM:301004 DANT2 skos:exactMatch ncbigene:642776 semapv:UnspecifiedMatching -OMIM:301005 FRMPD3 skos:exactMatch hgnc.symbol:29382 semapv:UnspecifiedMatching -OMIM:301005 FRMPD3 skos:exactMatch hgnc.symbol:FRMPD3 semapv:UnspecifiedMatching -OMIM:301005 FRMPD3 skos:exactMatch ncbigene:84443 semapv:UnspecifiedMatching -OMIM:301007 ZMAT1 skos:exactMatch hgnc.symbol:29377 semapv:UnspecifiedMatching -OMIM:301007 ZMAT1 skos:exactMatch hgnc.symbol:ZMAT1 semapv:UnspecifiedMatching -OMIM:301007 ZMAT1 skos:exactMatch ncbigene:84460 semapv:UnspecifiedMatching -OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:29992 semapv:UnspecifiedMatching -OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:PAGE5 semapv:UnspecifiedMatching -OMIM:301009 PAGE5 skos:exactMatch ncbigene:90737 semapv:UnspecifiedMatching -OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:28612 semapv:UnspecifiedMatching -OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:TMSB15B semapv:UnspecifiedMatching -OMIM:301011 TMSB15B skos:exactMatch ncbigene:286527 semapv:UnspecifiedMatching -OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:26239 semapv:UnspecifiedMatching -OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:STEEP1 semapv:UnspecifiedMatching -OMIM:301012 STEEP1 skos:exactMatch ncbigene:63932 semapv:UnspecifiedMatching -OMIM:301016 RAP2C skos:exactMatch UMLS:C1427380 semapv:UnspecifiedMatching -OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:21165 semapv:UnspecifiedMatching -OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:RAP2C semapv:UnspecifiedMatching -OMIM:301016 RAP2C skos:exactMatch ncbigene:57826 semapv:UnspecifiedMatching -OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:16324 semapv:UnspecifiedMatching -OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:PPP1R2C semapv:UnspecifiedMatching -OMIM:301017 PPP1R2C skos:exactMatch ncbigene:80316 semapv:UnspecifiedMatching -OMIM:301019 KANTR skos:exactMatch hgnc.symbol:49510 semapv:UnspecifiedMatching -OMIM:301019 KANTR skos:exactMatch hgnc.symbol:KANTR semapv:UnspecifiedMatching -OMIM:301019 KANTR skos:exactMatch ncbigene:102723508 semapv:UnspecifiedMatching -OMIM:301022 mullegama-klein-martinez syndrome skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching -OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:32795 semapv:UnspecifiedMatching -OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:MIR532 semapv:UnspecifiedMatching -OMIM:301023 MIR532 skos:exactMatch ncbigene:693124 semapv:UnspecifiedMatching -OMIM:301024 intellectual developmental disorder, X-linked 108 skos:exactMatch UMLS:C5193009 semapv:UnspecifiedMatching -OMIM:301026 keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching -OMIM:301026 keipert syndrome skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching -OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:24715 semapv:UnspecifiedMatching -OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:TBC1D8B semapv:UnspecifiedMatching -OMIM:301027 TBC1D8B skos:exactMatch ncbigene:54885 semapv:UnspecifiedMatching -OMIM:301032 basilicata-akhtar syndrome skos:exactMatch UMLS:C5231394 semapv:UnspecifiedMatching -OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:18399 semapv:UnspecifiedMatching -OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:DHRSX semapv:UnspecifiedMatching -OMIM:301034 DHRSX skos:exactMatch ncbigene:207063 semapv:UnspecifiedMatching -OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:33738 semapv:UnspecifiedMatching -OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:EZHIP semapv:UnspecifiedMatching -OMIM:301036 EZHIP skos:exactMatch ncbigene:340602 semapv:UnspecifiedMatching -OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:22516 semapv:UnspecifiedMatching -OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:H2AB1 semapv:UnspecifiedMatching -OMIM:301037 H2AB1 skos:exactMatch ncbigene:474382 semapv:UnspecifiedMatching -OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:18298 semapv:UnspecifiedMatching -OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:H2AB2 semapv:UnspecifiedMatching -OMIM:301038 H2AB2 skos:exactMatch ncbigene:474381 semapv:UnspecifiedMatching -OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching -OMIM:301041 wieacker-wolff syndrome, female-restricted skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching -OMIM:301042 FUNDC2 skos:exactMatch UMLS:C1539540 semapv:UnspecifiedMatching -OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:24925 semapv:UnspecifiedMatching -OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:FUNDC2 semapv:UnspecifiedMatching -OMIM:301042 FUNDC2 skos:exactMatch ncbigene:65991 semapv:UnspecifiedMatching -OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching -OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:93925 semapv:UnspecifiedMatching -OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching -OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching -OMIM:301045 congenital disorder of glycosylation, iia iir skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching -OMIM:301046 ARMCX4 skos:exactMatch UMLS:C1538942 semapv:UnspecifiedMatching -OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:28615 semapv:UnspecifiedMatching -OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:ARMCX4 semapv:UnspecifiedMatching -OMIM:301046 ARMCX4 skos:exactMatch ncbigene:100131755 semapv:UnspecifiedMatching -OMIM:301047 ARMCX5 skos:exactMatch UMLS:C1538943 semapv:UnspecifiedMatching -OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:25772 semapv:UnspecifiedMatching -OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:ARMCX5 semapv:UnspecifiedMatching -OMIM:301047 ARMCX5 skos:exactMatch ncbigene:64860 semapv:UnspecifiedMatching -OMIM:301048 ARMCX6 skos:exactMatch UMLS:C1538944 semapv:UnspecifiedMatching -OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:26094 semapv:UnspecifiedMatching -OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:ARMCX6 semapv:UnspecifiedMatching -OMIM:301048 ARMCX6 skos:exactMatch ncbigene:54470 semapv:UnspecifiedMatching -OMIM:301049 TASL skos:exactMatch UMLS:C1539172 semapv:UnspecifiedMatching -OMIM:301049 TASL skos:exactMatch hgnc.symbol:25667 semapv:UnspecifiedMatching -OMIM:301049 TASL skos:exactMatch hgnc.symbol:TASL semapv:UnspecifiedMatching -OMIM:301049 TASL skos:exactMatch ncbigene:80231 semapv:UnspecifiedMatching -OMIM:301051 immunodeficiency 74, covid19-related, X-linked skos:exactMatch UMLS:C5435745 semapv:UnspecifiedMatching -OMIM:301052 warfarin sensitivity, X-linked skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching -OMIM:301053 MIR505 skos:exactMatch UMLS:C1826059 semapv:UnspecifiedMatching -OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:32140 semapv:UnspecifiedMatching -OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:MIR505 semapv:UnspecifiedMatching -OMIM:301053 MIR505 skos:exactMatch ncbigene:574508 semapv:UnspecifiedMatching -OMIM:301054 vexas syndrome skos:exactMatch UMLS:C5435753 semapv:UnspecifiedMatching -OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:2332 semapv:UnspecifiedMatching -OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:CPXCR1 semapv:UnspecifiedMatching -OMIM:301055 CPXCR1 skos:exactMatch ncbigene:53336 semapv:UnspecifiedMatching -OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:26708 semapv:UnspecifiedMatching -OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:CFAP47 semapv:UnspecifiedMatching -OMIM:301057 CFAP47 skos:exactMatch ncbigene:286464 semapv:UnspecifiedMatching -OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:16825 semapv:UnspecifiedMatching -OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:MTMR8 semapv:UnspecifiedMatching -OMIM:301061 MTMR8 skos:exactMatch ncbigene:55613 semapv:UnspecifiedMatching -OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:33139 semapv:UnspecifiedMatching -OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:MIR766 semapv:UnspecifiedMatching -OMIM:301062 MIR766 skos:exactMatch ncbigene:768218 semapv:UnspecifiedMatching -OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:30930 semapv:UnspecifiedMatching -OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:XAGE5 semapv:UnspecifiedMatching -OMIM:301063 XAGE5 skos:exactMatch ncbigene:170627 semapv:UnspecifiedMatching -OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:28515 semapv:UnspecifiedMatching -OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:MAGEB18 semapv:UnspecifiedMatching -OMIM:301064 MAGEB18 skos:exactMatch ncbigene:286514 semapv:UnspecifiedMatching -OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:18283 semapv:UnspecifiedMatching -OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:RAB40A semapv:UnspecifiedMatching -OMIM:301065 RAB40A skos:exactMatch ncbigene:142684 semapv:UnspecifiedMatching -OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:25301 semapv:UnspecifiedMatching -OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:FAM47C semapv:UnspecifiedMatching -OMIM:301067 FAM47C skos:exactMatch ncbigene:442444 semapv:UnspecifiedMatching -OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:30512 semapv:UnspecifiedMatching -OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:WDR44 semapv:UnspecifiedMatching -OMIM:301070 WDR44 skos:exactMatch ncbigene:54521 semapv:UnspecifiedMatching -OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:808 semapv:UnspecifiedMatching -OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:ATP1B4 semapv:UnspecifiedMatching -OMIM:301073 ATP1B4 skos:exactMatch ncbigene:23439 semapv:UnspecifiedMatching -OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:20083 semapv:UnspecifiedMatching -OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:DDX53 semapv:UnspecifiedMatching -OMIM:301079 DDX53 skos:exactMatch ncbigene:168400 semapv:UnspecifiedMatching -OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:28277 semapv:UnspecifiedMatching -OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:TCEANC semapv:UnspecifiedMatching -OMIM:301084 TCEANC skos:exactMatch ncbigene:170082 semapv:UnspecifiedMatching -OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:18992 semapv:UnspecifiedMatching -OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:ADGRG4 semapv:UnspecifiedMatching -OMIM:301085 ADGRG4 skos:exactMatch ncbigene:139378 semapv:UnspecifiedMatching -OMIM:301086 MOSPD2 skos:exactMatch hgnc.symbol:28381 semapv:UnspecifiedMatching -OMIM:301086 MOSPD2 skos:exactMatch hgnc.symbol:MOSPD2 semapv:UnspecifiedMatching -OMIM:301086 MOSPD2 skos:exactMatch ncbigene:158747 semapv:UnspecifiedMatching -OMIM:301087 FGF13AS1 skos:exactMatch hgnc.symbol:44264 semapv:UnspecifiedMatching -OMIM:301087 FGF13AS1 skos:exactMatch hgnc.symbol:FGF13-AS1 semapv:UnspecifiedMatching -OMIM:301087 FGF13AS1 skos:exactMatch ncbigene:100129662 semapv:UnspecifiedMatching -OMIM:301088 CMC4 skos:exactMatch hgnc.symbol:35428 semapv:UnspecifiedMatching -OMIM:301088 CMC4 skos:exactMatch hgnc.symbol:CMC4 semapv:UnspecifiedMatching -OMIM:301088 CMC4 skos:exactMatch ncbigene:100272147 semapv:UnspecifiedMatching -OMIM:301089 WWC3 skos:exactMatch hgnc.symbol:29237 semapv:UnspecifiedMatching -OMIM:301089 WWC3 skos:exactMatch hgnc.symbol:WWC3 semapv:UnspecifiedMatching -OMIM:301089 WWC3 skos:exactMatch ncbigene:55841 semapv:UnspecifiedMatching -OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:31644 semapv:UnspecifiedMatching -OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:MIR92A2 semapv:UnspecifiedMatching -OMIM:301092 MIR92A2 skos:exactMatch ncbigene:407049 semapv:UnspecifiedMatching -OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:33737 semapv:UnspecifiedMatching -OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:NHSL2 semapv:UnspecifiedMatching -OMIM:301093 NHSL2 skos:exactMatch ncbigene:340527 semapv:UnspecifiedMatching -OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:16847 semapv:UnspecifiedMatching -OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:CSAG2 semapv:UnspecifiedMatching -OMIM:301096 CSAG2 skos:exactMatch ncbigene:102723547 semapv:UnspecifiedMatching -OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:26237 semapv:UnspecifiedMatching -OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:CSAG3 semapv:UnspecifiedMatching -OMIM:301097 CSAG3 skos:exactMatch ncbigene:389903 semapv:UnspecifiedMatching -OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:28100 semapv:UnspecifiedMatching -OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:MMGT1 semapv:UnspecifiedMatching -OMIM:301098 MMGT1 skos:exactMatch ncbigene:93380 semapv:UnspecifiedMatching -OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:28601 semapv:UnspecifiedMatching -OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:TMEM31 semapv:UnspecifiedMatching -OMIM:301102 TMEM31 skos:exactMatch ncbigene:203562 semapv:UnspecifiedMatching -OMIM:301103 MPC1L skos:exactMatch hgnc.symbol:44205 semapv:UnspecifiedMatching -OMIM:301103 MPC1L skos:exactMatch hgnc.symbol:MPC1L semapv:UnspecifiedMatching -OMIM:301103 MPC1L skos:exactMatch ncbigene:347411 semapv:UnspecifiedMatching -OMIM:301104 PPP1R3F skos:exactMatch hgnc.symbol:14944 semapv:UnspecifiedMatching -OMIM:301104 PPP1R3F skos:exactMatch hgnc.symbol:PPP1R3F semapv:UnspecifiedMatching -OMIM:301104 PPP1R3F skos:exactMatch ncbigene:89801 semapv:UnspecifiedMatching -OMIM:301105 CT55 skos:exactMatch hgnc.symbol:26047 semapv:UnspecifiedMatching -OMIM:301105 CT55 skos:exactMatch hgnc.symbol:CT55 semapv:UnspecifiedMatching -OMIM:301105 CT55 skos:exactMatch ncbigene:54967 semapv:UnspecifiedMatching -OMIM:301112 GLOD5 skos:exactMatch hgnc.symbol:33358 semapv:UnspecifiedMatching -OMIM:301112 GLOD5 skos:exactMatch hgnc.symbol:GLOD5 semapv:UnspecifiedMatching -OMIM:301112 GLOD5 skos:exactMatch ncbigene:392465 semapv:UnspecifiedMatching -OMIM:301113 SPIN4 skos:exactMatch hgnc.symbol:27040 semapv:UnspecifiedMatching -OMIM:301113 SPIN4 skos:exactMatch hgnc.symbol:SPIN4 semapv:UnspecifiedMatching -OMIM:301113 SPIN4 skos:exactMatch ncbigene:139886 semapv:UnspecifiedMatching -OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:397 semapv:UnspecifiedMatching -OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:ALAS2 semapv:UnspecifiedMatching -OMIM:301300 ALAS2 skos:exactMatch ncbigene:212 semapv:UnspecifiedMatching -OMIM:301500 fabry disease skos:exactMatch Orphanet:324 semapv:UnspecifiedMatching -OMIM:301500 fabry disease skos:exactMatch UMLS:C0002986 semapv:UnspecifiedMatching -OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:710 semapv:UnspecifiedMatching -OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:ARR3 semapv:UnspecifiedMatching -OMIM:301770 ARR3 skos:exactMatch ncbigene:407 semapv:UnspecifiedMatching -OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:716 semapv:UnspecifiedMatching -OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:ARSC2 semapv:UnspecifiedMatching -OMIM:301780 ARSC2 skos:exactMatch ncbigene:413 semapv:UnspecifiedMatching -OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching -OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching -OMIM:301870 BGN skos:exactMatch hgnc.symbol:1044 semapv:UnspecifiedMatching -OMIM:301870 BGN skos:exactMatch hgnc.symbol:BGN semapv:UnspecifiedMatching -OMIM:301870 BGN skos:exactMatch ncbigene:633 semapv:UnspecifiedMatching -OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch Orphanet:127 semapv:UnspecifiedMatching -OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch UMLS:C0265339 semapv:UnspecifiedMatching -OMIM:302020 S100G skos:exactMatch hgnc.symbol:1436 semapv:UnspecifiedMatching -OMIM:302020 S100G skos:exactMatch hgnc.symbol:S100G semapv:UnspecifiedMatching -OMIM:302020 S100G skos:exactMatch ncbigene:795 semapv:UnspecifiedMatching -OMIM:302350 nance-horan syndrome skos:exactMatch Orphanet:627 semapv:UnspecifiedMatching -OMIM:302350 nance-horan syndrome skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching -OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:1798 semapv:UnspecifiedMatching -OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:CDR1 semapv:UnspecifiedMatching -OMIM:302650 CDR1 skos:exactMatch ncbigene:1038 semapv:UnspecifiedMatching -OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:2022 semapv:UnspecifiedMatching -OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:CLCN4 semapv:UnspecifiedMatching -OMIM:302910 CLCN4 skos:exactMatch ncbigene:1183 semapv:UnspecifiedMatching -OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:2207 semapv:UnspecifiedMatching -OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:COL4A5 semapv:UnspecifiedMatching -OMIM:303630 COL4A5 skos:exactMatch ncbigene:1287 semapv:UnspecifiedMatching -OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:2208 semapv:UnspecifiedMatching -OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:COL4A6 semapv:UnspecifiedMatching -OMIM:303631 COL4A6 skos:exactMatch ncbigene:1288 semapv:UnspecifiedMatching -OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:4283 semapv:UnspecifiedMatching -OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:GJB1 semapv:UnspecifiedMatching -OMIM:304040 GJB1 skos:exactMatch ncbigene:2705 semapv:UnspecifiedMatching -OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:7219 semapv:UnspecifiedMatching -OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:MPP1 semapv:UnspecifiedMatching -OMIM:305360 MPP1 skos:exactMatch ncbigene:4354 semapv:UnspecifiedMatching -OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:11820 semapv:UnspecifiedMatching -OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:TIMP1 semapv:UnspecifiedMatching -OMIM:305370 TIMP1 skos:exactMatch ncbigene:7076 semapv:UnspecifiedMatching -OMIM:305371 GATA1 skos:exactMatch hgnc.symbol:4170 semapv:UnspecifiedMatching -OMIM:305371 GATA1 skos:exactMatch hgnc.symbol:GATA1 semapv:UnspecifiedMatching -OMIM:305371 GATA1 skos:exactMatch ncbigene:2623 semapv:UnspecifiedMatching -OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:3547 semapv:UnspecifiedMatching -OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:F8A1 semapv:UnspecifiedMatching -OMIM:305423 F8A1 skos:exactMatch ncbigene:8263 semapv:UnspecifiedMatching -OMIM:305600 focal dermal hypoplasia skos:exactMatch Orphanet:2092 semapv:UnspecifiedMatching -OMIM:305600 focal dermal hypoplasia skos:exactMatch UMLS:C0016395 semapv:UnspecifiedMatching -OMIM:305660 GABRA3 skos:exactMatch hgnc.symbol:4077 semapv:UnspecifiedMatching -OMIM:305660 GABRA3 skos:exactMatch hgnc.symbol:GABRA3 semapv:UnspecifiedMatching -OMIM:305660 GABRA3 skos:exactMatch ncbigene:2556 semapv:UnspecifiedMatching -OMIM:305670 GRPR skos:exactMatch hgnc.symbol:4609 semapv:UnspecifiedMatching -OMIM:305670 GRPR skos:exactMatch hgnc.symbol:GRPR semapv:UnspecifiedMatching -OMIM:305670 GRPR skos:exactMatch ncbigene:2925 semapv:UnspecifiedMatching -OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching -OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch UMLS:C1384583 semapv:UnspecifiedMatching -OMIM:305900 G6PD skos:exactMatch hgnc.symbol:4057 semapv:UnspecifiedMatching -OMIM:305900 G6PD skos:exactMatch hgnc.symbol:G6PD semapv:UnspecifiedMatching -OMIM:305900 G6PD skos:exactMatch ncbigene:2539 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch UMLS:C1333710 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch UMLS:C5436947 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:4573 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:GRIA3 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch ncbigene:2892 semapv:UnspecifiedMatching -OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:4327 semapv:UnspecifiedMatching -OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:GLRA2 semapv:UnspecifiedMatching -OMIM:305990 GLRA2 skos:exactMatch ncbigene:2742 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C1844412 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C2748941 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C3694531 semapv:UnspecifiedMatching -OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching -OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching -OMIM:306250 CSF2RA skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching -OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching -OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:16818 semapv:UnspecifiedMatching -OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:PUDP semapv:UnspecifiedMatching -OMIM:306480 HDHD1A skos:exactMatch ncbigene:8226 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:169802 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:169805 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:169808 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching -OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching -OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching -OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C1415701 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C1845892 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017591 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017592 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017593 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017594 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017595 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017596 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017597 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017598 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017599 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017600 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017601 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017602 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017603 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017604 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017605 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017606 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017796 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310993 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310994 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310995 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310996 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310997 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310998 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310999 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311000 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311001 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311002 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311003 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311004 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311005 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:5157 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:HPRT1 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch ncbigene:3251 semapv:UnspecifiedMatching -OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch Orphanet:139 semapv:UnspecifiedMatching -OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching -OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch Orphanet:431 semapv:UnspecifiedMatching -OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching -OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching -OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:85284 semapv:UnspecifiedMatching -OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching -OMIM:308300 incontinentia pigmenti skos:exactMatch Orphanet:464 semapv:UnspecifiedMatching -OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching -OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C2930820 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C4552072 semapv:UnspecifiedMatching -OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:6010 semapv:UnspecifiedMatching -OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:IL2RG semapv:UnspecifiedMatching -OMIM:308380 IL2RG skos:exactMatch ncbigene:3561 semapv:UnspecifiedMatching -OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching -OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching -OMIM:308385 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching -OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:6470 semapv:UnspecifiedMatching -OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:L1CAM semapv:UnspecifiedMatching -OMIM:308840 L1CAM skos:exactMatch ncbigene:3897 semapv:UnspecifiedMatching -OMIM:308960 leukemia, acute, X-linked skos:exactMatch UMLS:C3501854 semapv:UnspecifiedMatching -OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching -OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching -OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C2713392 semapv:UnspecifiedMatching -OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:6501 semapv:UnspecifiedMatching -OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:LAMP2 semapv:UnspecifiedMatching -OMIM:309060 LAMP2 skos:exactMatch ncbigene:3920 semapv:UnspecifiedMatching -OMIM:309400 menkes disease skos:exactMatch Orphanet:565 semapv:UnspecifiedMatching -OMIM:309400 menkes disease skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching -OMIM:309510 partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching -OMIM:309510 partington syndrome skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching -OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching -OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching -OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:3775 semapv:UnspecifiedMatching -OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:FMR1 semapv:UnspecifiedMatching -OMIM:309550 FMR1 skos:exactMatch ncbigene:2332 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:85328 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C0796003 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C0796272 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching -OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching -OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching -OMIM:309845 MSN skos:exactMatch hgnc.symbol:7373 semapv:UnspecifiedMatching -OMIM:309845 MSN skos:exactMatch hgnc.symbol:MSN semapv:UnspecifiedMatching -OMIM:309845 MSN skos:exactMatch ncbigene:4478 semapv:UnspecifiedMatching -OMIM:309850 MAOA skos:exactMatch hgnc.symbol:6833 semapv:UnspecifiedMatching -OMIM:309850 MAOA skos:exactMatch hgnc.symbol:MAOA semapv:UnspecifiedMatching -OMIM:309850 MAOA skos:exactMatch ncbigene:4128 semapv:UnspecifiedMatching -OMIM:309860 MAOB skos:exactMatch hgnc.symbol:6834 semapv:UnspecifiedMatching -OMIM:309860 MAOB skos:exactMatch hgnc.symbol:MAOB semapv:UnspecifiedMatching -OMIM:309860 MAOB skos:exactMatch ncbigene:4129 semapv:UnspecifiedMatching -OMIM:309950 muscular dystrophy, hemizygous lethal iia skos:exactMatch UMLS:C1839671 semapv:UnspecifiedMatching -OMIM:310310 MYCL2 skos:exactMatch hgnc.symbol:7556 semapv:UnspecifiedMatching -OMIM:310310 MYCL2 skos:exactMatch hgnc.symbol:MYCLP1 semapv:UnspecifiedMatching -OMIM:310310 MYCL2 skos:exactMatch ncbigene:4611 semapv:UnspecifiedMatching -OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching -OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch UMLS:C1839615 semapv:UnspecifiedMatching -OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch Orphanet:101078 semapv:UnspecifiedMatching -OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching -OMIM:311010 ARAF skos:exactMatch hgnc.symbol:646 semapv:UnspecifiedMatching -OMIM:311010 ARAF skos:exactMatch hgnc.symbol:ARAF semapv:UnspecifiedMatching -OMIM:311010 ARAF skos:exactMatch ncbigene:369 semapv:UnspecifiedMatching -OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:6940 semapv:UnspecifiedMatching -OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:MCF2 semapv:UnspecifiedMatching -OMIM:311030 MCF2 skos:exactMatch ncbigene:4168 semapv:UnspecifiedMatching -OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:3321 semapv:UnspecifiedMatching -OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:ELK1 semapv:UnspecifiedMatching -OMIM:311040 ELK1 skos:exactMatch ncbigene:2002 semapv:UnspecifiedMatching -OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:8092 semapv:UnspecifiedMatching -OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:TBC1D25 semapv:UnspecifiedMatching -OMIM:311240 TBC1D25 skos:exactMatch ncbigene:4943 semapv:UnspecifiedMatching -OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch Orphanet:664 semapv:UnspecifiedMatching -OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C0085215 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C3494522 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching -OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:8749 semapv:UnspecifiedMatching -OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:CDK16 semapv:UnspecifiedMatching -OMIM:311550 CDK16 skos:exactMatch ncbigene:5127 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch UMLS:C0024790 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch UMLS:C1418558 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch UMLS:C1418559 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch hgnc.symbol:8957 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch hgnc.symbol:PIGA semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch ncbigene:5277 semapv:UnspecifiedMatching -OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:8872 semapv:UnspecifiedMatching -OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:PFKFB1 semapv:UnspecifiedMatching -OMIM:311790 PFKFB1 skos:exactMatch ncbigene:5207 semapv:UnspecifiedMatching -OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:8896 semapv:UnspecifiedMatching -OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:PGK1 semapv:UnspecifiedMatching -OMIM:311800 PGK1 skos:exactMatch ncbigene:5230 semapv:UnspecifiedMatching -OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:9462 semapv:UnspecifiedMatching -OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:PRPS1 semapv:UnspecifiedMatching -OMIM:311850 PRPS1 skos:exactMatch ncbigene:5631 semapv:UnspecifiedMatching -OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:9465 semapv:UnspecifiedMatching -OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:PRPS2 semapv:UnspecifiedMatching -OMIM:311860 PRPS2 skos:exactMatch ncbigene:5634 semapv:UnspecifiedMatching -OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:8925 semapv:UnspecifiedMatching -OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:PHKA1 semapv:UnspecifiedMatching -OMIM:311870 PHKA1 skos:exactMatch ncbigene:5255 semapv:UnspecifiedMatching -OMIM:311900 tarp syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching -OMIM:311900 tarp syndrome skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching -OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:9173 semapv:UnspecifiedMatching -OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:POLA1 semapv:UnspecifiedMatching -OMIM:312040 POLA1 skos:exactMatch ncbigene:5422 semapv:UnspecifiedMatching -OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:12505 semapv:UnspecifiedMatching -OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:UBL4A semapv:UnspecifiedMatching -OMIM:312070 UBL4A skos:exactMatch ncbigene:8266 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280210 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching -OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:22979 semapv:UnspecifiedMatching -OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:SLC10A3 semapv:UnspecifiedMatching -OMIM:312090 SLC10A3 skos:exactMatch ncbigene:8273 semapv:UnspecifiedMatching -OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:18783 semapv:UnspecifiedMatching -OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching -OMIM:312095 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:79243 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0034345 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0751597 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C1839413 semapv:UnspecifiedMatching -OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:10298 semapv:UnspecifiedMatching -OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:RPL10 semapv:UnspecifiedMatching -OMIM:312173 RPL10 skos:exactMatch ncbigene:6134 semapv:UnspecifiedMatching -OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:12472 semapv:UnspecifiedMatching -OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:UBE2A semapv:UnspecifiedMatching -OMIM:312180 UBE2A skos:exactMatch ncbigene:7319 semapv:UnspecifiedMatching -OMIM:312420 RENBP skos:exactMatch hgnc.symbol:9959 semapv:UnspecifiedMatching -OMIM:312420 RENBP skos:exactMatch hgnc.symbol:RENBP semapv:UnspecifiedMatching -OMIM:312420 RENBP skos:exactMatch ncbigene:5973 semapv:UnspecifiedMatching -OMIM:312610 RPGR skos:exactMatch hgnc.symbol:10295 semapv:UnspecifiedMatching -OMIM:312610 RPGR skos:exactMatch hgnc.symbol:RPGR semapv:UnspecifiedMatching -OMIM:312610 RPGR skos:exactMatch ncbigene:6103 semapv:UnspecifiedMatching -OMIM:312750 rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching -OMIM:312750 rett syndrome skos:exactMatch Orphanet:778 semapv:UnspecifiedMatching -OMIM:312750 rett syndrome skos:exactMatch UMLS:C0035372 semapv:UnspecifiedMatching -OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:10424 semapv:UnspecifiedMatching -OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:RPS4X semapv:UnspecifiedMatching -OMIM:312760 RPS4X skos:exactMatch ncbigene:6191 semapv:UnspecifiedMatching -OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:11335 semapv:UnspecifiedMatching -OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:SSX1 semapv:UnspecifiedMatching -OMIM:312820 SSX1 skos:exactMatch ncbigene:6756 semapv:UnspecifiedMatching -OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:5295 semapv:UnspecifiedMatching -OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:HTR2C semapv:UnspecifiedMatching -OMIM:312861 HTR2C skos:exactMatch ncbigene:3358 semapv:UnspecifiedMatching -OMIM:312865 SHOX skos:exactMatch hgnc.symbol:10853 semapv:UnspecifiedMatching -OMIM:312865 SHOX skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching -OMIM:312865 SHOX skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching -OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch Orphanet:373 semapv:UnspecifiedMatching -OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching -OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:10540 semapv:UnspecifiedMatching -OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:SAT1 semapv:UnspecifiedMatching -OMIM:313020 SAT1 skos:exactMatch ncbigene:6303 semapv:UnspecifiedMatching -OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:11199 semapv:UnspecifiedMatching -OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:SOX3 semapv:UnspecifiedMatching -OMIM:313430 SOX3 skos:exactMatch ncbigene:6658 semapv:UnspecifiedMatching -OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:11494 semapv:UnspecifiedMatching -OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:SYN1 semapv:UnspecifiedMatching -OMIM:313440 SYN1 skos:exactMatch ncbigene:6853 semapv:UnspecifiedMatching -OMIM:313470 CD99 skos:exactMatch hgnc.symbol:7082 semapv:UnspecifiedMatching -OMIM:313470 CD99 skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching -OMIM:313470 CD99 skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching -OMIM:313475 SYP skos:exactMatch hgnc.symbol:11506 semapv:UnspecifiedMatching -OMIM:313475 SYP skos:exactMatch hgnc.symbol:SYP semapv:UnspecifiedMatching -OMIM:313475 SYP skos:exactMatch ncbigene:6855 semapv:UnspecifiedMatching -OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:11535 semapv:UnspecifiedMatching -OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:TAF1 semapv:UnspecifiedMatching -OMIM:313650 TAF1 skos:exactMatch ncbigene:6872 semapv:UnspecifiedMatching -OMIM:313700 AR skos:exactMatch hgnc.symbol:644 semapv:UnspecifiedMatching -OMIM:313700 AR skos:exactMatch hgnc.symbol:AR semapv:UnspecifiedMatching -OMIM:313700 AR skos:exactMatch ncbigene:367 semapv:UnspecifiedMatching -OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching -OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching -OMIM:313900 thrombocytopenia 1 skos:exactMatch UMLS:C1839163 semapv:UnspecifiedMatching -OMIM:314200 TBG skos:exactMatch hgnc.symbol:11583 semapv:UnspecifiedMatching -OMIM:314200 TBG skos:exactMatch hgnc.symbol:SERPINA7 semapv:UnspecifiedMatching -OMIM:314200 TBG skos:exactMatch ncbigene:6906 semapv:UnspecifiedMatching -OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:11752 semapv:UnspecifiedMatching -OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:TFE3 semapv:UnspecifiedMatching -OMIM:314310 TFE3 skos:exactMatch ncbigene:7030 semapv:UnspecifiedMatching -OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch Orphanet:3369 semapv:UnspecifiedMatching -OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch UMLS:C1839125 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch UMLS:C1421268 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch UMLS:C5436948 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:12469 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:UBA1 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch ncbigene:7317 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch UMLS:C1420188 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch UMLS:C4016594 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:11022 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:SLC35A2 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch ncbigene:7355 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:3454 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C1839735 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch UMLS:C1421536 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch UMLS:C1848138 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch hgnc.symbol:12810 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch hgnc.symbol:XIST semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch ncbigene:7503 semapv:UnspecifiedMatching -OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:11114 semapv:UnspecifiedMatching -OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:KDM5C semapv:UnspecifiedMatching -OMIM:314690 KDM5C skos:exactMatch ncbigene:8242 semapv:UnspecifiedMatching -OMIM:314850 XK skos:exactMatch hgnc.symbol:12811 semapv:UnspecifiedMatching -OMIM:314850 XK skos:exactMatch hgnc.symbol:XK semapv:UnspecifiedMatching -OMIM:314850 XK skos:exactMatch ncbigene:7504 semapv:UnspecifiedMatching -OMIM:314980 ZFX skos:exactMatch hgnc.symbol:12869 semapv:UnspecifiedMatching -OMIM:314980 ZFX skos:exactMatch hgnc.symbol:ZFX semapv:UnspecifiedMatching -OMIM:314980 ZFX skos:exactMatch ncbigene:7543 semapv:UnspecifiedMatching -OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:13128 semapv:UnspecifiedMatching -OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:ZNF711 semapv:UnspecifiedMatching -OMIM:314990 ZNF711 skos:exactMatch ncbigene:7552 semapv:UnspecifiedMatching -OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:13001 semapv:UnspecifiedMatching -OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:ZNF182 semapv:UnspecifiedMatching -OMIM:314993 ZNF182 skos:exactMatch ncbigene:7569 semapv:UnspecifiedMatching -OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:13107 semapv:UnspecifiedMatching -OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:ZNF41 semapv:UnspecifiedMatching -OMIM:314995 ZNF41 skos:exactMatch ncbigene:7592 semapv:UnspecifiedMatching -OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:13145 semapv:UnspecifiedMatching -OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:ZNF75D semapv:UnspecifiedMatching -OMIM:314997 ZNF75D skos:exactMatch ncbigene:7626 semapv:UnspecifiedMatching -OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:13156 semapv:UnspecifiedMatching -OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:ZNF81 semapv:UnspecifiedMatching -OMIM:314998 ZNF81 skos:exactMatch ncbigene:347344 semapv:UnspecifiedMatching -OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:2682 semapv:UnspecifiedMatching -OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:DAZ1 semapv:UnspecifiedMatching -OMIM:400003 DAZ1 skos:exactMatch ncbigene:1617 semapv:UnspecifiedMatching -OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:12633 semapv:UnspecifiedMatching -OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:USP9Y semapv:UnspecifiedMatching -OMIM:400005 USP9Y skos:exactMatch ncbigene:8287 semapv:UnspecifiedMatching -OMIM:400006 RBMY1A1 skos:exactMatch UMLS:C1419310 semapv:UnspecifiedMatching -OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:9912 semapv:UnspecifiedMatching -OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:RBMY1A1 semapv:UnspecifiedMatching -OMIM:400006 RBMY1A1 skos:exactMatch ncbigene:5940 semapv:UnspecifiedMatching -OMIM:400008 PRKY skos:exactMatch hgnc.symbol:9444 semapv:UnspecifiedMatching -OMIM:400008 PRKY skos:exactMatch hgnc.symbol:PRKY semapv:UnspecifiedMatching -OMIM:400008 PRKY skos:exactMatch ncbigene:5616 semapv:UnspecifiedMatching -OMIM:400009 UTY skos:exactMatch hgnc.symbol:12638 semapv:UnspecifiedMatching -OMIM:400009 UTY skos:exactMatch hgnc.symbol:UTY semapv:UnspecifiedMatching -OMIM:400009 UTY skos:exactMatch ncbigene:7404 semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch UMLS:C1413926 semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:2699 semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:DDX3Y semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch ncbigene:8653 semapv:UnspecifiedMatching -OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:751 semapv:UnspecifiedMatching -OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching -OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching -OMIM:400012 VCY skos:exactMatch hgnc.symbol:12668 semapv:UnspecifiedMatching -OMIM:400012 VCY skos:exactMatch hgnc.symbol:VCY semapv:UnspecifiedMatching -OMIM:400012 VCY skos:exactMatch ncbigene:9084 semapv:UnspecifiedMatching -OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:13508 semapv:UnspecifiedMatching -OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:BPY2 semapv:UnspecifiedMatching -OMIM:400013 BPY2 skos:exactMatch ncbigene:9083 semapv:UnspecifiedMatching -OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:3252 semapv:UnspecifiedMatching -OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:EIF1AY semapv:UnspecifiedMatching -OMIM:400014 EIF1AY skos:exactMatch ncbigene:9086 semapv:UnspecifiedMatching -OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:18571 semapv:UnspecifiedMatching -OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:XKRY semapv:UnspecifiedMatching -OMIM:400015 xk-related protein on y chromosome skos:exactMatch ncbigene:9082 semapv:UnspecifiedMatching -OMIM:400016 CDY1 skos:exactMatch UMLS:C1413303 semapv:UnspecifiedMatching -OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:1809 semapv:UnspecifiedMatching -OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:CDY1 semapv:UnspecifiedMatching -OMIM:400016 CDY1 skos:exactMatch ncbigene:9085 semapv:UnspecifiedMatching -OMIM:400017 TMSB4Y skos:exactMatch hgnc.symbol:11882 semapv:UnspecifiedMatching -OMIM:400017 TMSB4Y skos:exactMatch hgnc.symbol:TMSB4Y semapv:UnspecifiedMatching -OMIM:400017 TMSB4Y skos:exactMatch ncbigene:9087 semapv:UnspecifiedMatching -OMIM:400018 CDY2A skos:exactMatch UMLS:C1824691 semapv:UnspecifiedMatching -OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:1810 semapv:UnspecifiedMatching -OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:CDY2A semapv:UnspecifiedMatching -OMIM:400018 CDY2A skos:exactMatch ncbigene:9426 semapv:UnspecifiedMatching -OMIM:400019 PRY skos:exactMatch hgnc.symbol:14024 semapv:UnspecifiedMatching -OMIM:400019 PRY skos:exactMatch hgnc.symbol:PRY semapv:UnspecifiedMatching -OMIM:400019 PRY skos:exactMatch ncbigene:9081 semapv:UnspecifiedMatching -OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:10853 semapv:UnspecifiedMatching -OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching -OMIM:400020 SHOXY skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching -OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:15813 semapv:UnspecifiedMatching -OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:PCDH11Y semapv:UnspecifiedMatching -OMIM:400022 PCDH11Y skos:exactMatch ncbigene:83259 semapv:UnspecifiedMatching -OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:14281 semapv:UnspecifiedMatching -OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching -OMIM:400023 CRLF2Y skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching -OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:18569 semapv:UnspecifiedMatching -OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:TGIF2LY semapv:UnspecifiedMatching -OMIM:400025 TGIF2LY skos:exactMatch ncbigene:90655 semapv:UnspecifiedMatching -OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:15964 semapv:UnspecifiedMatching -OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:DAZ2 semapv:UnspecifiedMatching -OMIM:400026 DAZ2 skos:exactMatch ncbigene:57055 semapv:UnspecifiedMatching -OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:15965 semapv:UnspecifiedMatching -OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:DAZ3 semapv:UnspecifiedMatching -OMIM:400027 DAZ3 skos:exactMatch ncbigene:57054 semapv:UnspecifiedMatching -OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:15529 semapv:UnspecifiedMatching -OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:NLGN4Y semapv:UnspecifiedMatching -OMIM:400028 NLGN4Y skos:exactMatch ncbigene:22829 semapv:UnspecifiedMatching -OMIM:400029 HSFY skos:exactMatch hgnc.symbol:18568 semapv:UnspecifiedMatching -OMIM:400029 HSFY skos:exactMatch hgnc.symbol:HSFY1 semapv:UnspecifiedMatching -OMIM:400029 HSFY skos:exactMatch ncbigene:86614 semapv:UnspecifiedMatching -OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:18501 semapv:UnspecifiedMatching -OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:RPS4Y2 semapv:UnspecifiedMatching -OMIM:400030 RPS4Y2 skos:exactMatch ncbigene:140032 semapv:UnspecifiedMatching -OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:18473 semapv:UnspecifiedMatching -OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:TXLNGY semapv:UnspecifiedMatching -OMIM:400031 TXLNGY skos:exactMatch ncbigene:246126 semapv:UnspecifiedMatching -OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:18502 semapv:UnspecifiedMatching -OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:TBL1Y semapv:UnspecifiedMatching -OMIM:400033 TBL1Y skos:exactMatch ncbigene:90665 semapv:UnspecifiedMatching -OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:16478 semapv:UnspecifiedMatching -OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:CSPG4P1Y semapv:UnspecifiedMatching -OMIM:400034 CSPG4P1Y skos:exactMatch ncbigene:114758 semapv:UnspecifiedMatching -OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:16479 semapv:UnspecifiedMatching -OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:GOLGA2P2Y semapv:UnspecifiedMatching -OMIM:400035 GOLGA2P2Y skos:exactMatch ncbigene:84559 semapv:UnspecifiedMatching -OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:16480 semapv:UnspecifiedMatching -OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:TTTY3 semapv:UnspecifiedMatching -OMIM:400036 TTTY3 skos:exactMatch ncbigene:114760 semapv:UnspecifiedMatching -OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:16481 semapv:UnspecifiedMatching -OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:TTTY4 semapv:UnspecifiedMatching -OMIM:400037 TTTY4 skos:exactMatch ncbigene:114761 semapv:UnspecifiedMatching -OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:16482 semapv:UnspecifiedMatching -OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:TTTY5 semapv:UnspecifiedMatching -OMIM:400038 TTTY5 skos:exactMatch ncbigene:83863 semapv:UnspecifiedMatching -OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:16483 semapv:UnspecifiedMatching -OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:TTTY6 semapv:UnspecifiedMatching -OMIM:400039 TTTY6 skos:exactMatch ncbigene:84672 semapv:UnspecifiedMatching -OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:18841 semapv:UnspecifiedMatching -OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:TTTY17A semapv:UnspecifiedMatching -OMIM:400040 TTTY17 skos:exactMatch ncbigene:252949 semapv:UnspecifiedMatching -OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:21504 semapv:UnspecifiedMatching -OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:PRY2 semapv:UnspecifiedMatching -OMIM:400041 PRY2 skos:exactMatch ncbigene:442862 semapv:UnspecifiedMatching -OMIM:400044 46,xy sex reversal 1 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching -OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching -OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748898 semapv:UnspecifiedMatching -OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748899 semapv:UnspecifiedMatching -OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:2138 semapv:UnspecifiedMatching -OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:393 semapv:UnspecifiedMatching -OMIM:400045 46,xx sex reversal 1 skos:exactMatch UMLS:C2748895 semapv:UnspecifiedMatching -OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:15966 semapv:UnspecifiedMatching -OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:DAZ4 semapv:UnspecifiedMatching -OMIM:400048 DAZ4 skos:exactMatch ncbigene:57135 semapv:UnspecifiedMatching -OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:31751 semapv:UnspecifiedMatching -OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:VCY1B semapv:UnspecifiedMatching -OMIM:400050 VCY1B skos:exactMatch ncbigene:353513 semapv:UnspecifiedMatching -OMIM:402500 ASMT skos:exactMatch hgnc.symbol:750 semapv:UnspecifiedMatching -OMIM:402500 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching -OMIM:402500 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching -OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:10992 semapv:UnspecifiedMatching -OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching -OMIM:403000 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching -OMIM:410000 AMELY skos:exactMatch hgnc.symbol:462 semapv:UnspecifiedMatching -OMIM:410000 AMELY skos:exactMatch hgnc.symbol:AMELY semapv:UnspecifiedMatching -OMIM:410000 AMELY skos:exactMatch ncbigene:266 semapv:UnspecifiedMatching -OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching -OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching -OMIM:425000 CSF2RY skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching -OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:11115 semapv:UnspecifiedMatching -OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:KDM5D semapv:UnspecifiedMatching -OMIM:426000 KDM5D skos:exactMatch ncbigene:8284 semapv:UnspecifiedMatching -OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching -OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching -OMIM:430000 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching -OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:7082 semapv:UnspecifiedMatching -OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching -OMIM:450000 cd99 antigen, y chromosome skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching -OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:18783 semapv:UnspecifiedMatching -OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching -OMIM:465000 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching -OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:10425 semapv:UnspecifiedMatching -OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:RPS4Y1 semapv:UnspecifiedMatching -OMIM:470000 RPS4Y1 skos:exactMatch ncbigene:6192 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch UMLS:C1420418 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch hgnc.symbol:11311 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch hgnc.symbol:SRY semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch ncbigene:6736 semapv:UnspecifiedMatching -OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:12381 semapv:UnspecifiedMatching -OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:TSPY1 semapv:UnspecifiedMatching -OMIM:480100 TSPY1 skos:exactMatch ncbigene:7258 semapv:UnspecifiedMatching -OMIM:490000 ZFY skos:exactMatch hgnc.symbol:12870 semapv:UnspecifiedMatching -OMIM:490000 ZFY skos:exactMatch hgnc.symbol:ZFY semapv:UnspecifiedMatching -OMIM:490000 ZFY skos:exactMatch ncbigene:7544 semapv:UnspecifiedMatching -OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 semapv:UnspecifiedMatching -OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching -OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:7455 semapv:UnspecifiedMatching -OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:MT-ND1 semapv:UnspecifiedMatching -OMIM:516000 MTND1 skos:exactMatch ncbigene:4535 semapv:UnspecifiedMatching -OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:7456 semapv:UnspecifiedMatching -OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:MT-ND2 semapv:UnspecifiedMatching -OMIM:516001 MTND2 skos:exactMatch ncbigene:4536 semapv:UnspecifiedMatching -OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:7458 semapv:UnspecifiedMatching -OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:MT-ND3 semapv:UnspecifiedMatching -OMIM:516002 MTND3 skos:exactMatch ncbigene:4537 semapv:UnspecifiedMatching -OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:7459 semapv:UnspecifiedMatching -OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:MT-ND4 semapv:UnspecifiedMatching -OMIM:516003 MTND4 skos:exactMatch ncbigene:4538 semapv:UnspecifiedMatching -OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:7460 semapv:UnspecifiedMatching -OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:MT-ND4L semapv:UnspecifiedMatching -OMIM:516004 MTND4L skos:exactMatch ncbigene:4539 semapv:UnspecifiedMatching -OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:7461 semapv:UnspecifiedMatching -OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:MT-ND5 semapv:UnspecifiedMatching -OMIM:516005 MTND5 skos:exactMatch ncbigene:4540 semapv:UnspecifiedMatching -OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:7462 semapv:UnspecifiedMatching -OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:MT-ND6 semapv:UnspecifiedMatching -OMIM:516006 MTND6 skos:exactMatch ncbigene:4541 semapv:UnspecifiedMatching -OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:7427 semapv:UnspecifiedMatching -OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:MT-CYB semapv:UnspecifiedMatching -OMIM:516020 MTCYB skos:exactMatch ncbigene:4519 semapv:UnspecifiedMatching -OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:7419 semapv:UnspecifiedMatching -OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:MT-CO1 semapv:UnspecifiedMatching -OMIM:516030 MTCO1 skos:exactMatch ncbigene:4512 semapv:UnspecifiedMatching -OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:7421 semapv:UnspecifiedMatching -OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:MT-CO2 semapv:UnspecifiedMatching -OMIM:516040 MTCO2 skos:exactMatch ncbigene:4513 semapv:UnspecifiedMatching -OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:7422 semapv:UnspecifiedMatching -OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:MT-CO3 semapv:UnspecifiedMatching -OMIM:516050 MTCO3 skos:exactMatch ncbigene:4514 semapv:UnspecifiedMatching -OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:7414 semapv:UnspecifiedMatching -OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:MT-ATP6 semapv:UnspecifiedMatching -OMIM:516060 MTATP6 skos:exactMatch ncbigene:4508 semapv:UnspecifiedMatching -OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:7415 semapv:UnspecifiedMatching -OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:MT-ATP8 semapv:UnspecifiedMatching -OMIM:516070 MTATP8 skos:exactMatch ncbigene:4509 semapv:UnspecifiedMatching -OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:7470 semapv:UnspecifiedMatching -OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:MT-RNR1 semapv:UnspecifiedMatching -OMIM:561000 MTRNR1 skos:exactMatch ncbigene:4549 semapv:UnspecifiedMatching -OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:7471 semapv:UnspecifiedMatching -OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:MT-RNR2 semapv:UnspecifiedMatching -OMIM:561010 MTRNR2 skos:exactMatch ncbigene:4550 semapv:UnspecifiedMatching -OMIM:590000 MTTA skos:exactMatch hgnc.symbol:7475 semapv:UnspecifiedMatching -OMIM:590000 MTTA skos:exactMatch hgnc.symbol:MT-TA semapv:UnspecifiedMatching -OMIM:590000 MTTA skos:exactMatch ncbigene:4553 semapv:UnspecifiedMatching -OMIM:590005 MTTR skos:exactMatch hgnc.symbol:7496 semapv:UnspecifiedMatching -OMIM:590005 MTTR skos:exactMatch hgnc.symbol:MT-TR semapv:UnspecifiedMatching -OMIM:590005 MTTR skos:exactMatch ncbigene:4573 semapv:UnspecifiedMatching -OMIM:590010 MTTN skos:exactMatch hgnc.symbol:7493 semapv:UnspecifiedMatching -OMIM:590010 MTTN skos:exactMatch hgnc.symbol:MT-TN semapv:UnspecifiedMatching -OMIM:590010 MTTN skos:exactMatch ncbigene:4570 semapv:UnspecifiedMatching -OMIM:590015 MTTD skos:exactMatch hgnc.symbol:7478 semapv:UnspecifiedMatching -OMIM:590015 MTTD skos:exactMatch hgnc.symbol:MT-TD semapv:UnspecifiedMatching -OMIM:590015 MTTD skos:exactMatch ncbigene:4555 semapv:UnspecifiedMatching -OMIM:590020 MTTC skos:exactMatch hgnc.symbol:7477 semapv:UnspecifiedMatching -OMIM:590020 MTTC skos:exactMatch hgnc.symbol:MT-TC semapv:UnspecifiedMatching -OMIM:590020 MTTC skos:exactMatch ncbigene:4511 semapv:UnspecifiedMatching -OMIM:590025 MTTE skos:exactMatch hgnc.symbol:7479 semapv:UnspecifiedMatching -OMIM:590025 MTTE skos:exactMatch hgnc.symbol:MT-TE semapv:UnspecifiedMatching -OMIM:590025 MTTE skos:exactMatch ncbigene:4556 semapv:UnspecifiedMatching -OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:7495 semapv:UnspecifiedMatching -OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:MT-TQ semapv:UnspecifiedMatching -OMIM:590030 MTTQ skos:exactMatch ncbigene:4572 semapv:UnspecifiedMatching -OMIM:590035 MTTG skos:exactMatch hgnc.symbol:7486 semapv:UnspecifiedMatching -OMIM:590035 MTTG skos:exactMatch hgnc.symbol:MT-TG semapv:UnspecifiedMatching -OMIM:590035 MTTG skos:exactMatch ncbigene:4563 semapv:UnspecifiedMatching -OMIM:590040 MTTH skos:exactMatch hgnc.symbol:7487 semapv:UnspecifiedMatching -OMIM:590040 MTTH skos:exactMatch hgnc.symbol:MT-TH semapv:UnspecifiedMatching -OMIM:590040 MTTH skos:exactMatch ncbigene:4564 semapv:UnspecifiedMatching -OMIM:590045 MTTI skos:exactMatch hgnc.symbol:7488 semapv:UnspecifiedMatching -OMIM:590045 MTTI skos:exactMatch hgnc.symbol:MT-TI semapv:UnspecifiedMatching -OMIM:590045 MTTI skos:exactMatch ncbigene:4565 semapv:UnspecifiedMatching -OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:7490 semapv:UnspecifiedMatching -OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:MT-TL1 semapv:UnspecifiedMatching -OMIM:590050 MTTL1 skos:exactMatch ncbigene:4567 semapv:UnspecifiedMatching -OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:7491 semapv:UnspecifiedMatching -OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:MT-TL2 semapv:UnspecifiedMatching -OMIM:590055 MTTL2 skos:exactMatch ncbigene:4568 semapv:UnspecifiedMatching -OMIM:590060 MTTK skos:exactMatch hgnc.symbol:7489 semapv:UnspecifiedMatching -OMIM:590060 MTTK skos:exactMatch hgnc.symbol:MT-TK semapv:UnspecifiedMatching -OMIM:590060 MTTK skos:exactMatch ncbigene:4566 semapv:UnspecifiedMatching -OMIM:590065 MTTM skos:exactMatch hgnc.symbol:7492 semapv:UnspecifiedMatching -OMIM:590065 MTTM skos:exactMatch hgnc.symbol:MT-TM semapv:UnspecifiedMatching -OMIM:590065 MTTM skos:exactMatch ncbigene:4569 semapv:UnspecifiedMatching -OMIM:590070 MTTF skos:exactMatch hgnc.symbol:7481 semapv:UnspecifiedMatching -OMIM:590070 MTTF skos:exactMatch hgnc.symbol:MT-TF semapv:UnspecifiedMatching -OMIM:590070 MTTF skos:exactMatch ncbigene:4558 semapv:UnspecifiedMatching -OMIM:590075 MTTP skos:exactMatch hgnc.symbol:7494 semapv:UnspecifiedMatching -OMIM:590075 MTTP skos:exactMatch hgnc.symbol:MT-TP semapv:UnspecifiedMatching -OMIM:590075 MTTP skos:exactMatch ncbigene:4571 semapv:UnspecifiedMatching -OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:7497 semapv:UnspecifiedMatching -OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:MT-TS1 semapv:UnspecifiedMatching -OMIM:590080 MTTS1 skos:exactMatch ncbigene:4574 semapv:UnspecifiedMatching -OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:7498 semapv:UnspecifiedMatching -OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:MT-TS2 semapv:UnspecifiedMatching -OMIM:590085 MTTS2 skos:exactMatch ncbigene:4575 semapv:UnspecifiedMatching -OMIM:590090 MTTT skos:exactMatch hgnc.symbol:7499 semapv:UnspecifiedMatching -OMIM:590090 MTTT skos:exactMatch hgnc.symbol:MT-TT semapv:UnspecifiedMatching -OMIM:590090 MTTT skos:exactMatch ncbigene:4576 semapv:UnspecifiedMatching -OMIM:590095 MTTW skos:exactMatch hgnc.symbol:7501 semapv:UnspecifiedMatching -OMIM:590095 MTTW skos:exactMatch hgnc.symbol:MT-TW semapv:UnspecifiedMatching -OMIM:590095 MTTW skos:exactMatch ncbigene:4578 semapv:UnspecifiedMatching -OMIM:590100 MTTY skos:exactMatch hgnc.symbol:7502 semapv:UnspecifiedMatching -OMIM:590100 MTTY skos:exactMatch hgnc.symbol:MT-TY semapv:UnspecifiedMatching -OMIM:590100 MTTY skos:exactMatch ncbigene:4579 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C0023264 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C1538016 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C4016634 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch UMLS:C5435765 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch hgnc.symbol:7500 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch hgnc.symbol:MT-TV semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch ncbigene:4577 semapv:UnspecifiedMatching -OMIM:600002 eiken syndrome skos:exactMatch Orphanet:79106 semapv:UnspecifiedMatching -OMIM:600002 eiken syndrome skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching -OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:1402 semapv:UnspecifiedMatching -OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:CACNB2 semapv:UnspecifiedMatching -OMIM:600003 CACNB2 skos:exactMatch ncbigene:783 semapv:UnspecifiedMatching -OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:3389 semapv:UnspecifiedMatching -OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:EPHA5 semapv:UnspecifiedMatching -OMIM:600004 EPHA5 skos:exactMatch ncbigene:2044 semapv:UnspecifiedMatching -OMIM:600005 CIITA skos:exactMatch hgnc.symbol:7067 semapv:UnspecifiedMatching -OMIM:600005 CIITA skos:exactMatch hgnc.symbol:CIITA semapv:UnspecifiedMatching -OMIM:600005 CIITA skos:exactMatch ncbigene:4261 semapv:UnspecifiedMatching -OMIM:600006 RFX1 skos:exactMatch UMLS:C1419359 semapv:UnspecifiedMatching -OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:9982 semapv:UnspecifiedMatching -OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:RFX1 semapv:UnspecifiedMatching -OMIM:600006 RFX1 skos:exactMatch ncbigene:5989 semapv:UnspecifiedMatching -OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:3766 semapv:UnspecifiedMatching -OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:FLT3LG semapv:UnspecifiedMatching -OMIM:600007 FLT3LG skos:exactMatch ncbigene:2323 semapv:UnspecifiedMatching -OMIM:600008 NNMT skos:exactMatch hgnc.symbol:7861 semapv:UnspecifiedMatching -OMIM:600008 NNMT skos:exactMatch hgnc.symbol:NNMT semapv:UnspecifiedMatching -OMIM:600008 NNMT skos:exactMatch ncbigene:4837 semapv:UnspecifiedMatching -OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:5397 semapv:UnspecifiedMatching -OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:IFI27 semapv:UnspecifiedMatching -OMIM:600009 IFI27 skos:exactMatch ncbigene:3429 semapv:UnspecifiedMatching -OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:6090 semapv:UnspecifiedMatching -OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:INSM1 semapv:UnspecifiedMatching -OMIM:600010 INSM1 skos:exactMatch ncbigene:3642 semapv:UnspecifiedMatching -OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:3395 semapv:UnspecifiedMatching -OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:EPHB4 semapv:UnspecifiedMatching -OMIM:600011 EPHB4 skos:exactMatch ncbigene:2050 semapv:UnspecifiedMatching -OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:12486 semapv:UnspecifiedMatching -OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:UBE2L1 semapv:UnspecifiedMatching -OMIM:600012 UBE2L1 skos:exactMatch ncbigene:283556 semapv:UnspecifiedMatching -OMIM:600013 YY1 skos:exactMatch hgnc.symbol:12856 semapv:UnspecifiedMatching -OMIM:600013 YY1 skos:exactMatch hgnc.symbol:YY1 semapv:UnspecifiedMatching -OMIM:600013 YY1 skos:exactMatch ncbigene:7528 semapv:UnspecifiedMatching -OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:11098 semapv:UnspecifiedMatching -OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:SMARCA2 semapv:UnspecifiedMatching -OMIM:600014 SMARCA2 skos:exactMatch ncbigene:6595 semapv:UnspecifiedMatching -OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:2171 semapv:UnspecifiedMatching -OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:CNTN1 semapv:UnspecifiedMatching -OMIM:600016 CNTN1 skos:exactMatch ncbigene:1272 semapv:UnspecifiedMatching -OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:10661 semapv:UnspecifiedMatching -OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:SDC4 semapv:UnspecifiedMatching -OMIM:600017 SDC4 skos:exactMatch ncbigene:6385 semapv:UnspecifiedMatching -OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:8156 semapv:UnspecifiedMatching -OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:OPRM1 semapv:UnspecifiedMatching -OMIM:600018 OPRM1 skos:exactMatch ncbigene:4988 semapv:UnspecifiedMatching -OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:2571 semapv:UnspecifiedMatching -OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:CYB561 semapv:UnspecifiedMatching -OMIM:600019 CYB561 skos:exactMatch ncbigene:1534 semapv:UnspecifiedMatching -OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:7534 semapv:UnspecifiedMatching -OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:MXI1 semapv:UnspecifiedMatching -OMIM:600020 MXI1 skos:exactMatch ncbigene:4601 semapv:UnspecifiedMatching -OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:6761 semapv:UnspecifiedMatching -OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:MXD1 semapv:UnspecifiedMatching -OMIM:600021 MXD1 skos:exactMatch ncbigene:4084 semapv:UnspecifiedMatching -OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:9602 semapv:UnspecifiedMatching -OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:PTGIR semapv:UnspecifiedMatching -OMIM:600022 PTGIR skos:exactMatch ncbigene:5739 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch UMLS:C1413269 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:1750 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:CDH11 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch ncbigene:1009 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch UMLS:C0748397 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch UMLS:C1416802 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch UMLS:C2931048 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch UMLS:C4747922 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch hgnc.symbol:6518 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch hgnc.symbol:LBR semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch ncbigene:3930 semapv:UnspecifiedMatching -OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:6387 semapv:UnspecifiedMatching -OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:KLC1 semapv:UnspecifiedMatching -OMIM:600025 KLC1 skos:exactMatch ncbigene:3831 semapv:UnspecifiedMatching -OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:11168 semapv:UnspecifiedMatching -OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:SNTB1 semapv:UnspecifiedMatching -OMIM:600026 SNTB1 skos:exactMatch ncbigene:6641 semapv:UnspecifiedMatching -OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:11169 semapv:UnspecifiedMatching -OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:SNTB2 semapv:UnspecifiedMatching -OMIM:600027 SNTB2 skos:exactMatch ncbigene:6645 semapv:UnspecifiedMatching -OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:2918 semapv:UnspecifiedMatching -OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:DLX5 semapv:UnspecifiedMatching -OMIM:600028 DLX5 skos:exactMatch ncbigene:1749 semapv:UnspecifiedMatching -OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:2914 semapv:UnspecifiedMatching -OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:DLX1 semapv:UnspecifiedMatching -OMIM:600029 DLX1 skos:exactMatch ncbigene:1745 semapv:UnspecifiedMatching -OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:2919 semapv:UnspecifiedMatching -OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:DLX6 semapv:UnspecifiedMatching -OMIM:600030 DLX6 skos:exactMatch ncbigene:1750 semapv:UnspecifiedMatching -OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:1936 semapv:UnspecifiedMatching -OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:CHIT1 semapv:UnspecifiedMatching -OMIM:600031 CHIT1 skos:exactMatch ncbigene:1118 semapv:UnspecifiedMatching -OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:11761 semapv:UnspecifiedMatching -OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:TFPI2 semapv:UnspecifiedMatching -OMIM:600033 TFPI2 skos:exactMatch ncbigene:7980 semapv:UnspecifiedMatching -OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:3340 semapv:UnspecifiedMatching -OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:EMX1 semapv:UnspecifiedMatching -OMIM:600034 EMX1 skos:exactMatch ncbigene:2016 semapv:UnspecifiedMatching -OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:3341 semapv:UnspecifiedMatching -OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:EMX2 semapv:UnspecifiedMatching -OMIM:600035 EMX2 skos:exactMatch ncbigene:2018 semapv:UnspecifiedMatching -OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:8521 semapv:UnspecifiedMatching -OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:OTX1 semapv:UnspecifiedMatching -OMIM:600036 OTX1 skos:exactMatch ncbigene:5013 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch UMLS:C1418202 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch UMLS:C1864690 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch UMLS:C3149814 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch UMLS:C3151440 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch UMLS:C4225589 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:8522 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:OTX2 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch ncbigene:5015 semapv:UnspecifiedMatching -OMIM:600038 MATK skos:exactMatch hgnc.symbol:6906 semapv:UnspecifiedMatching -OMIM:600038 MATK skos:exactMatch hgnc.symbol:MATK semapv:UnspecifiedMatching -OMIM:600038 MATK skos:exactMatch ncbigene:4145 semapv:UnspecifiedMatching -OMIM:600039 BCL2L1 skos:exactMatch UMLS:C1332397 semapv:UnspecifiedMatching -OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:992 semapv:UnspecifiedMatching -OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:BCL2L1 semapv:UnspecifiedMatching -OMIM:600039 BCL2L1 skos:exactMatch ncbigene:598 semapv:UnspecifiedMatching -OMIM:600040 BAX skos:exactMatch hgnc.symbol:959 semapv:UnspecifiedMatching -OMIM:600040 BAX skos:exactMatch hgnc.symbol:BAX semapv:UnspecifiedMatching -OMIM:600040 BAX skos:exactMatch ncbigene:581 semapv:UnspecifiedMatching -OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:8541 semapv:UnspecifiedMatching -OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:P2RY2 semapv:UnspecifiedMatching -OMIM:600041 P2RY2 skos:exactMatch ncbigene:5029 semapv:UnspecifiedMatching -OMIM:600042 MC5R skos:exactMatch hgnc.symbol:6933 semapv:UnspecifiedMatching -OMIM:600042 MC5R skos:exactMatch hgnc.symbol:MC5R semapv:UnspecifiedMatching -OMIM:600042 MC5R skos:exactMatch ncbigene:4161 semapv:UnspecifiedMatching -OMIM:600043 SULT1E1 skos:exactMatch hgnc.symbol:11377 semapv:UnspecifiedMatching -OMIM:600043 SULT1E1 skos:exactMatch hgnc.symbol:SULT1E1 semapv:UnspecifiedMatching -OMIM:600043 SULT1E1 skos:exactMatch ncbigene:6783 semapv:UnspecifiedMatching -OMIM:600044 THPO skos:exactMatch hgnc.symbol:11795 semapv:UnspecifiedMatching -OMIM:600044 THPO skos:exactMatch hgnc.symbol:THPO semapv:UnspecifiedMatching -OMIM:600044 THPO skos:exactMatch ncbigene:7066 semapv:UnspecifiedMatching -OMIM:600045 DDB1 skos:exactMatch hgnc.symbol:2717 semapv:UnspecifiedMatching -OMIM:600045 DDB1 skos:exactMatch hgnc.symbol:DDB1 semapv:UnspecifiedMatching -OMIM:600045 DDB1 skos:exactMatch ncbigene:1642 semapv:UnspecifiedMatching -OMIM:600046 ABCA1 skos:exactMatch hgnc.symbol:29 semapv:UnspecifiedMatching -OMIM:600046 ABCA1 skos:exactMatch hgnc.symbol:ABCA1 semapv:UnspecifiedMatching -OMIM:600046 ABCA1 skos:exactMatch ncbigene:19 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch UMLS:C1412061 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394564 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394565 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:32 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:ABCA2 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch ncbigene:20 semapv:UnspecifiedMatching -OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:6850 semapv:UnspecifiedMatching -OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:MAP3K11 semapv:UnspecifiedMatching -OMIM:600050 MAP3K11 skos:exactMatch ncbigene:4296 semapv:UnspecifiedMatching -OMIM:600051 EPS15 skos:exactMatch UMLS:C1333343 semapv:UnspecifiedMatching -OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:3419 semapv:UnspecifiedMatching -OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:EPS15 semapv:UnspecifiedMatching -OMIM:600051 EPS15 skos:exactMatch ncbigene:2060 semapv:UnspecifiedMatching -OMIM:600052 APLNR skos:exactMatch hgnc.symbol:339 semapv:UnspecifiedMatching -OMIM:600052 APLNR skos:exactMatch hgnc.symbol:APLNR semapv:UnspecifiedMatching -OMIM:600052 APLNR skos:exactMatch ncbigene:187 semapv:UnspecifiedMatching -OMIM:600053 CNGA3 skos:exactMatch hgnc.symbol:2150 semapv:UnspecifiedMatching -OMIM:600053 CNGA3 skos:exactMatch hgnc.symbol:CNGA3 semapv:UnspecifiedMatching -OMIM:600053 CNGA3 skos:exactMatch ncbigene:1261 semapv:UnspecifiedMatching -OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching -OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:93930 semapv:UnspecifiedMatching -OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch UMLS:C1838703 semapv:UnspecifiedMatching -OMIM:600058 TXK skos:exactMatch hgnc.symbol:12434 semapv:UnspecifiedMatching -OMIM:600058 TXK skos:exactMatch hgnc.symbol:TXK semapv:UnspecifiedMatching -OMIM:600058 TXK skos:exactMatch ncbigene:7294 semapv:UnspecifiedMatching -OMIM:600059 retinitis pigmentosa 13 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:600059 retinitis pigmentosa 13 skos:exactMatch UMLS:C1838702 semapv:UnspecifiedMatching -OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:9812 semapv:UnspecifiedMatching -OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:RAD23A semapv:UnspecifiedMatching -OMIM:600061 RAD23A skos:exactMatch ncbigene:5886 semapv:UnspecifiedMatching -OMIM:600062 RAD23B skos:exactMatch UMLS:C1419237 semapv:UnspecifiedMatching -OMIM:600062 RAD23B skos:exactMatch hgnc.symbol:9813 semapv:UnspecifiedMatching -OMIM:600062 RAD23B skos:exactMatch hgnc.symbol:RAD23B semapv:UnspecifiedMatching -OMIM:600062 RAD23B skos:exactMatch ncbigene:5887 semapv:UnspecifiedMatching -OMIM:600063 TROVE2 skos:exactMatch hgnc.symbol:11313 semapv:UnspecifiedMatching -OMIM:600063 TROVE2 skos:exactMatch hgnc.symbol:RO60 semapv:UnspecifiedMatching -OMIM:600063 TROVE2 skos:exactMatch ncbigene:6738 semapv:UnspecifiedMatching -OMIM:600064 KRTAP11-1 skos:exactMatch hgnc.symbol:18922 semapv:UnspecifiedMatching -OMIM:600064 KRTAP11-1 skos:exactMatch hgnc.symbol:KRTAP11-1 semapv:UnspecifiedMatching -OMIM:600064 KRTAP11-1 skos:exactMatch ncbigene:337880 semapv:UnspecifiedMatching -OMIM:600065 ITGB2 skos:exactMatch hgnc.symbol:6155 semapv:UnspecifiedMatching -OMIM:600065 ITGB2 skos:exactMatch hgnc.symbol:ITGB2 semapv:UnspecifiedMatching -OMIM:600065 ITGB2 skos:exactMatch ncbigene:3689 semapv:UnspecifiedMatching -OMIM:600066 EPHA6 skos:exactMatch hgnc.symbol:19296 semapv:UnspecifiedMatching -OMIM:600066 EPHA6 skos:exactMatch hgnc.symbol:EPHA6 semapv:UnspecifiedMatching -OMIM:600066 EPHA6 skos:exactMatch ncbigene:285220 semapv:UnspecifiedMatching -OMIM:600067 UGT2B4 skos:exactMatch hgnc.symbol:12553 semapv:UnspecifiedMatching -OMIM:600067 UGT2B4 skos:exactMatch hgnc.symbol:UGT2B4 semapv:UnspecifiedMatching -OMIM:600067 UGT2B4 skos:exactMatch ncbigene:7363 semapv:UnspecifiedMatching -OMIM:600068 UGT2B7 skos:exactMatch hgnc.symbol:12554 semapv:UnspecifiedMatching -OMIM:600068 UGT2B7 skos:exactMatch hgnc.symbol:UGT2B7 semapv:UnspecifiedMatching -OMIM:600068 UGT2B7 skos:exactMatch ncbigene:7364 semapv:UnspecifiedMatching -OMIM:600069 UGT2B15 skos:exactMatch hgnc.symbol:12546 semapv:UnspecifiedMatching -OMIM:600069 UGT2B15 skos:exactMatch hgnc.symbol:UGT2B15 semapv:UnspecifiedMatching -OMIM:600069 UGT2B15 skos:exactMatch ncbigene:7366 semapv:UnspecifiedMatching -OMIM:600070 UGT2B10 skos:exactMatch hgnc.symbol:12544 semapv:UnspecifiedMatching -OMIM:600070 UGT2B10 skos:exactMatch hgnc.symbol:UGT2B10 semapv:UnspecifiedMatching -OMIM:600070 UGT2B10 skos:exactMatch ncbigene:7365 semapv:UnspecifiedMatching -OMIM:600073 LRP2 skos:exactMatch hgnc.symbol:6694 semapv:UnspecifiedMatching -OMIM:600073 LRP2 skos:exactMatch hgnc.symbol:LRP2 semapv:UnspecifiedMatching -OMIM:600073 LRP2 skos:exactMatch ncbigene:4036 semapv:UnspecifiedMatching -OMIM:600074 CD24 skos:exactMatch hgnc.symbol:1645 semapv:UnspecifiedMatching -OMIM:600074 CD24 skos:exactMatch hgnc.symbol:CD24 semapv:UnspecifiedMatching -OMIM:600074 CD24 skos:exactMatch ncbigene:100133941 semapv:UnspecifiedMatching -OMIM:600075 TBP skos:exactMatch hgnc.symbol:11588 semapv:UnspecifiedMatching -OMIM:600075 TBP skos:exactMatch hgnc.symbol:TBP semapv:UnspecifiedMatching -OMIM:600075 TBP skos:exactMatch ncbigene:6908 semapv:UnspecifiedMatching -OMIM:600076 TNS1 skos:exactMatch hgnc.symbol:11973 semapv:UnspecifiedMatching -OMIM:600076 TNS1 skos:exactMatch hgnc.symbol:TNS1 semapv:UnspecifiedMatching -OMIM:600076 TNS1 skos:exactMatch ncbigene:7145 semapv:UnspecifiedMatching -OMIM:600079 PTPN12 skos:exactMatch hgnc.symbol:9645 semapv:UnspecifiedMatching -OMIM:600079 PTPN12 skos:exactMatch hgnc.symbol:PTPN12 semapv:UnspecifiedMatching -OMIM:600079 PTPN12 skos:exactMatch ncbigene:5782 semapv:UnspecifiedMatching -OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching -OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching -OMIM:600085 SYK skos:exactMatch hgnc.symbol:11491 semapv:UnspecifiedMatching -OMIM:600085 SYK skos:exactMatch hgnc.symbol:SYK semapv:UnspecifiedMatching -OMIM:600085 SYK skos:exactMatch ncbigene:6850 semapv:UnspecifiedMatching -OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:256 semapv:UnspecifiedMatching -OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:ADH7 semapv:UnspecifiedMatching -OMIM:600086 ADH7 skos:exactMatch ncbigene:131 semapv:UnspecifiedMatching -OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:12422 semapv:UnspecifiedMatching -OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:TUFT1 semapv:UnspecifiedMatching -OMIM:600087 TUFT1 skos:exactMatch ncbigene:7286 semapv:UnspecifiedMatching -OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching -OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch UMLS:C1335647 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch UMLS:C5231432 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:17271 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:RRAS2 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch ncbigene:22800 semapv:UnspecifiedMatching -OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:11512 semapv:UnspecifiedMatching -OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:SYT4 semapv:UnspecifiedMatching -OMIM:600103 SYT4 skos:exactMatch ncbigene:6860 semapv:UnspecifiedMatching -OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:11510 semapv:UnspecifiedMatching -OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:SYT2 semapv:UnspecifiedMatching -OMIM:600104 SYT2 skos:exactMatch ncbigene:127833 semapv:UnspecifiedMatching -OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:6076 semapv:UnspecifiedMatching -OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:INPP5A semapv:UnspecifiedMatching -OMIM:600106 INPP5A skos:exactMatch ncbigene:3632 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch UMLS:C0432225 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch UMLS:C1417202 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch UMLS:C4016643 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch hgnc.symbol:7159 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch hgnc.symbol:MMP13 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch ncbigene:4322 semapv:UnspecifiedMatching -OMIM:600111 SLC1A3 skos:exactMatch hgnc.symbol:10941 semapv:UnspecifiedMatching -OMIM:600111 SLC1A3 skos:exactMatch hgnc.symbol:SLC1A3 semapv:UnspecifiedMatching -OMIM:600111 SLC1A3 skos:exactMatch ncbigene:6507 semapv:UnspecifiedMatching -OMIM:600112 DYNC1H1 skos:exactMatch hgnc.symbol:2961 semapv:UnspecifiedMatching -OMIM:600112 DYNC1H1 skos:exactMatch hgnc.symbol:DYNC1H1 semapv:UnspecifiedMatching -OMIM:600112 DYNC1H1 skos:exactMatch ncbigene:1778 semapv:UnspecifiedMatching -OMIM:600114 CCT3 skos:exactMatch hgnc.symbol:1616 semapv:UnspecifiedMatching -OMIM:600114 CCT3 skos:exactMatch hgnc.symbol:CCT3 semapv:UnspecifiedMatching -OMIM:600114 CCT3 skos:exactMatch ncbigene:7203 semapv:UnspecifiedMatching -OMIM:600119 SGCA skos:exactMatch hgnc.symbol:10805 semapv:UnspecifiedMatching -OMIM:600119 SGCA skos:exactMatch hgnc.symbol:SGCA semapv:UnspecifiedMatching -OMIM:600119 SGCA skos:exactMatch ncbigene:6442 semapv:UnspecifiedMatching -OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch Orphanet:1352 semapv:UnspecifiedMatching -OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch UMLS:C1838606 semapv:UnspecifiedMatching -OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:5033 semapv:UnspecifiedMatching -OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:HNRNPA2B1 semapv:UnspecifiedMatching -OMIM:600124 HNRNPA2B1 skos:exactMatch ncbigene:3181 semapv:UnspecifiedMatching -OMIM:600126 PDE4A skos:exactMatch UMLS:C1418420 semapv:UnspecifiedMatching -OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:8780 semapv:UnspecifiedMatching -OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:PDE4A semapv:UnspecifiedMatching -OMIM:600126 PDE4A skos:exactMatch ncbigene:5141 semapv:UnspecifiedMatching -OMIM:600127 PDE4B skos:exactMatch UMLS:C1418421 semapv:UnspecifiedMatching -OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:8781 semapv:UnspecifiedMatching -OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:PDE4B semapv:UnspecifiedMatching -OMIM:600127 PDE4B skos:exactMatch ncbigene:5142 semapv:UnspecifiedMatching -OMIM:600128 PDE4C skos:exactMatch UMLS:C1418422 semapv:UnspecifiedMatching -OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:8782 semapv:UnspecifiedMatching -OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:PDE4C semapv:UnspecifiedMatching -OMIM:600128 PDE4C skos:exactMatch ncbigene:5143 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C1418423 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C4016646 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C4016647 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch UMLS:C4016648 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:8783 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:PDE4D semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch ncbigene:5144 semapv:UnspecifiedMatching -OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:604 semapv:UnspecifiedMatching -OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:APOBEC1 semapv:UnspecifiedMatching -OMIM:600130 APOBEC1 skos:exactMatch ncbigene:339 semapv:UnspecifiedMatching -OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:6484 semapv:UnspecifiedMatching -OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:LAMA4 semapv:UnspecifiedMatching -OMIM:600133 LAMA4 skos:exactMatch ncbigene:3910 semapv:UnspecifiedMatching -OMIM:600135 CTXN1 skos:exactMatch UMLS:C1429080 semapv:UnspecifiedMatching -OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:31108 semapv:UnspecifiedMatching -OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:CTXN1 semapv:UnspecifiedMatching -OMIM:600135 CTXN1 skos:exactMatch ncbigene:404217 semapv:UnspecifiedMatching -OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:6861 semapv:UnspecifiedMatching -OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:MAP3K9 semapv:UnspecifiedMatching -OMIM:600136 MAP3K9 skos:exactMatch ncbigene:4293 semapv:UnspecifiedMatching -OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:6849 semapv:UnspecifiedMatching -OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:MAP3K10 semapv:UnspecifiedMatching -OMIM:600137 MAP3K10 skos:exactMatch ncbigene:4294 semapv:UnspecifiedMatching -OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:2348 semapv:UnspecifiedMatching -OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:CREBBP semapv:UnspecifiedMatching -OMIM:600140 CREBBP skos:exactMatch ncbigene:1387 semapv:UnspecifiedMatching -OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:5269 semapv:UnspecifiedMatching -OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:HSPE1 semapv:UnspecifiedMatching -OMIM:600141 HSPE1 skos:exactMatch ncbigene:3336 semapv:UnspecifiedMatching -OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch Orphanet:199354 semapv:UnspecifiedMatching -OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching -OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:6181 semapv:UnspecifiedMatching -OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:ITPR2 semapv:UnspecifiedMatching -OMIM:600144 ITPR2 skos:exactMatch ncbigene:3709 semapv:UnspecifiedMatching -OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:7013 semapv:UnspecifiedMatching -OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:MEOX1 semapv:UnspecifiedMatching -OMIM:600147 MEOX1 skos:exactMatch ncbigene:4222 semapv:UnspecifiedMatching -OMIM:600148 GK2 skos:exactMatch hgnc.symbol:4291 semapv:UnspecifiedMatching -OMIM:600148 GK2 skos:exactMatch hgnc.symbol:GK2 semapv:UnspecifiedMatching -OMIM:600148 GK2 skos:exactMatch ncbigene:2712 semapv:UnspecifiedMatching -OMIM:600149 glycerol kinase 3 pseudogene skos:exactMatch hgnc.symbol:GK3 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1416602 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1836173 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4539985 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4540548 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:6284 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:KCNMA1 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch ncbigene:3778 semapv:UnspecifiedMatching -OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching -OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching -OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:10697 semapv:UnspecifiedMatching -OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:SEC13 semapv:UnspecifiedMatching -OMIM:600152 SEC13 skos:exactMatch ncbigene:6396 semapv:UnspecifiedMatching -OMIM:600153 PIGF skos:exactMatch hgnc.symbol:8962 semapv:UnspecifiedMatching -OMIM:600153 PIGF skos:exactMatch hgnc.symbol:PIGF semapv:UnspecifiedMatching -OMIM:600153 PIGF skos:exactMatch ncbigene:5281 semapv:UnspecifiedMatching -OMIM:600154 PIGH skos:exactMatch hgnc.symbol:8964 semapv:UnspecifiedMatching -OMIM:600154 PIGH skos:exactMatch hgnc.symbol:PIGH semapv:UnspecifiedMatching -OMIM:600154 PIGH skos:exactMatch ncbigene:5283 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch UMLS:C1412434 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:554 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:AP1B1 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch ncbigene:162 semapv:UnspecifiedMatching -OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:1787 semapv:UnspecifiedMatching -OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:CDKN2A semapv:UnspecifiedMatching -OMIM:600160 CDKN2A skos:exactMatch ncbigene:1029 semapv:UnspecifiedMatching -OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:30089 semapv:UnspecifiedMatching -OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:PWAR1 semapv:UnspecifiedMatching -OMIM:600161 PWAR1 skos:exactMatch ncbigene:145624 semapv:UnspecifiedMatching -OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:30090 semapv:UnspecifiedMatching -OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:PWAR5 semapv:UnspecifiedMatching -OMIM:600162 PWAR5 skos:exactMatch ncbigene:8123 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C0038644 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C0428908 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1419864 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1832680 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1837845 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1838527 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1859062 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1861983 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1861984 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C1879286 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C2751898 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C3276240 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C3276241 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C4016652 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch UMLS:C4551804 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:10593 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:SCN5A semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch ncbigene:6331 semapv:UnspecifiedMatching -OMIM:600164 GEM skos:exactMatch hgnc.symbol:4234 semapv:UnspecifiedMatching -OMIM:600164 GEM skos:exactMatch hgnc.symbol:GEM semapv:UnspecifiedMatching -OMIM:600164 GEM skos:exactMatch ncbigene:2669 semapv:UnspecifiedMatching -OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:5182 semapv:UnspecifiedMatching -OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:HRH1 semapv:UnspecifiedMatching -OMIM:600167 HRH1 skos:exactMatch ncbigene:3269 semapv:UnspecifiedMatching -OMIM:600168 MST1R skos:exactMatch hgnc.symbol:7381 semapv:UnspecifiedMatching -OMIM:600168 MST1R skos:exactMatch hgnc.symbol:MST1R semapv:UnspecifiedMatching -OMIM:600168 MST1R skos:exactMatch ncbigene:4486 semapv:UnspecifiedMatching -OMIM:600169 MICA skos:exactMatch hgnc.symbol:7090 semapv:UnspecifiedMatching -OMIM:600169 MICA skos:exactMatch hgnc.symbol:MICA semapv:UnspecifiedMatching -OMIM:600169 MICA skos:exactMatch ncbigene:100507436 semapv:UnspecifiedMatching -OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:636 semapv:UnspecifiedMatching -OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:AQP3 semapv:UnspecifiedMatching -OMIM:600170 AQP3 skos:exactMatch ncbigene:360 semapv:UnspecifiedMatching -OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:7428 semapv:UnspecifiedMatching -OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:MTF1 semapv:UnspecifiedMatching -OMIM:600172 MTF1 skos:exactMatch ncbigene:4520 semapv:UnspecifiedMatching -OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:6193 semapv:UnspecifiedMatching -OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:JAK3 semapv:UnspecifiedMatching -OMIM:600173 JAK3 skos:exactMatch ncbigene:3718 semapv:UnspecifiedMatching -OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:9001 semapv:UnspecifiedMatching -OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:PITPNA semapv:UnspecifiedMatching -OMIM:600174 PITPNA skos:exactMatch ncbigene:5306 semapv:UnspecifiedMatching -OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:6835 semapv:UnspecifiedMatching -OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:MAP1A semapv:UnspecifiedMatching -OMIM:600178 MAP1A skos:exactMatch ncbigene:4130 semapv:UnspecifiedMatching -OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:4689 semapv:UnspecifiedMatching -OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:GUCY2D semapv:UnspecifiedMatching -OMIM:600179 GUCY2D skos:exactMatch ncbigene:3000 semapv:UnspecifiedMatching -OMIM:600181 LCN2 skos:exactMatch UMLS:C1416806 semapv:UnspecifiedMatching -OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:6526 semapv:UnspecifiedMatching -OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:LCN2 semapv:UnspecifiedMatching -OMIM:600181 LCN2 skos:exactMatch ncbigene:3934 semapv:UnspecifiedMatching -OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:11063 semapv:UnspecifiedMatching -OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:SLC7A5 semapv:UnspecifiedMatching -OMIM:600182 SLC7A5 skos:exactMatch ncbigene:8140 semapv:UnspecifiedMatching -OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:3069 semapv:UnspecifiedMatching -OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:DUSP3 semapv:UnspecifiedMatching -OMIM:600183 DUSP3 skos:exactMatch ncbigene:1845 semapv:UnspecifiedMatching -OMIM:600184 CRAT skos:exactMatch hgnc.symbol:2342 semapv:UnspecifiedMatching -OMIM:600184 CRAT skos:exactMatch hgnc.symbol:CRAT semapv:UnspecifiedMatching -OMIM:600184 CRAT skos:exactMatch ncbigene:1384 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C0598034 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C2675520 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C2751641 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C3150546 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:1101 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:BRCA2 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch ncbigene:675 semapv:UnspecifiedMatching -OMIM:600187 EIF5A skos:exactMatch hgnc.symbol:3300 semapv:UnspecifiedMatching -OMIM:600187 EIF5A skos:exactMatch hgnc.symbol:EIF5A semapv:UnspecifiedMatching -OMIM:600187 EIF5A skos:exactMatch ncbigene:1984 semapv:UnspecifiedMatching -OMIM:600188 TLE5 skos:exactMatch UMLS:C1412268 semapv:UnspecifiedMatching -OMIM:600188 TLE5 skos:exactMatch hgnc.symbol:307 semapv:UnspecifiedMatching -OMIM:600188 TLE5 skos:exactMatch hgnc.symbol:TLE5 semapv:UnspecifiedMatching -OMIM:600188 TLE5 skos:exactMatch ncbigene:166 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch UMLS:C1420752 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:11837 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:TLE1 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch ncbigene:7088 semapv:UnspecifiedMatching -OMIM:600190 TLE3 skos:exactMatch UMLS:C1420754 semapv:UnspecifiedMatching -OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:11839 semapv:UnspecifiedMatching -OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:TLE3 semapv:UnspecifiedMatching -OMIM:600190 TLE3 skos:exactMatch ncbigene:7090 semapv:UnspecifiedMatching -OMIM:600192 SS18 skos:exactMatch hgnc.symbol:11340 semapv:UnspecifiedMatching -OMIM:600192 SS18 skos:exactMatch hgnc.symbol:SS18 semapv:UnspecifiedMatching -OMIM:600192 SS18 skos:exactMatch ncbigene:6760 semapv:UnspecifiedMatching -OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:6439 semapv:UnspecifiedMatching -OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:KRT2 semapv:UnspecifiedMatching -OMIM:600194 KRT2 skos:exactMatch ncbigene:3849 semapv:UnspecifiedMatching -OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch Orphanet:2451 semapv:UnspecifiedMatching -OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch UMLS:C1838437 semapv:UnspecifiedMatching -OMIM:600197 MAFK skos:exactMatch UMLS:C1416968 semapv:UnspecifiedMatching -OMIM:600197 MAFK skos:exactMatch hgnc.symbol:6782 semapv:UnspecifiedMatching -OMIM:600197 MAFK skos:exactMatch hgnc.symbol:MAFK semapv:UnspecifiedMatching -OMIM:600197 MAFK skos:exactMatch ncbigene:7975 semapv:UnspecifiedMatching -OMIM:600201 ASIP skos:exactMatch hgnc.symbol:745 semapv:UnspecifiedMatching -OMIM:600201 ASIP skos:exactMatch hgnc.symbol:ASIP semapv:UnspecifiedMatching -OMIM:600201 ASIP skos:exactMatch ncbigene:434 semapv:UnspecifiedMatching -OMIM:600202 dyslexia, susceptibility to, 2 skos:exactMatch UMLS:C1838436 semapv:UnspecifiedMatching -OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:3420 semapv:UnspecifiedMatching -OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:EPS8 semapv:UnspecifiedMatching -OMIM:600206 EPS8 skos:exactMatch ncbigene:2059 semapv:UnspecifiedMatching -OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:5145 semapv:UnspecifiedMatching -OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:HPCAL1 semapv:UnspecifiedMatching -OMIM:600207 HPCAL1 skos:exactMatch ncbigene:3241 semapv:UnspecifiedMatching -OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:10473 semapv:UnspecifiedMatching -OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:RUNX3 semapv:UnspecifiedMatching -OMIM:600210 RUNX3 skos:exactMatch ncbigene:864 semapv:UnspecifiedMatching -OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:10472 semapv:UnspecifiedMatching -OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:RUNX2 semapv:UnspecifiedMatching -OMIM:600211 RUNX2 skos:exactMatch ncbigene:860 semapv:UnspecifiedMatching -OMIM:600212 FASN skos:exactMatch hgnc.symbol:3594 semapv:UnspecifiedMatching -OMIM:600212 FASN skos:exactMatch hgnc.symbol:FASN semapv:UnspecifiedMatching -OMIM:600212 FASN skos:exactMatch ncbigene:2194 semapv:UnspecifiedMatching -OMIM:600214 AGER skos:exactMatch hgnc.symbol:320 semapv:UnspecifiedMatching -OMIM:600214 AGER skos:exactMatch hgnc.symbol:AGER semapv:UnspecifiedMatching -OMIM:600214 AGER skos:exactMatch ncbigene:177 semapv:UnspecifiedMatching -OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:7032 semapv:UnspecifiedMatching -OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:MFAP1 semapv:UnspecifiedMatching -OMIM:600215 MFAP1 skos:exactMatch ncbigene:4236 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch UMLS:C1335226 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch UMLS:C3280914 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch hgnc.symbol:9066 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch hgnc.symbol:PLCG2 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch ncbigene:5336 semapv:UnspecifiedMatching -OMIM:600221 TEK skos:exactMatch hgnc.symbol:11724 semapv:UnspecifiedMatching -OMIM:600221 TEK skos:exactMatch hgnc.symbol:TEK semapv:UnspecifiedMatching -OMIM:600221 TEK skos:exactMatch ncbigene:7010 semapv:UnspecifiedMatching -OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:11809 semapv:UnspecifiedMatching -OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:TIE1 semapv:UnspecifiedMatching -OMIM:600222 TIE1 skos:exactMatch ncbigene:7075 semapv:UnspecifiedMatching -OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:4193 semapv:UnspecifiedMatching -OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:GCH1 semapv:UnspecifiedMatching -OMIM:600225 GCH1 skos:exactMatch ncbigene:2643 semapv:UnspecifiedMatching -OMIM:600227 CCNF skos:exactMatch hgnc.symbol:1591 semapv:UnspecifiedMatching -OMIM:600227 CCNF skos:exactMatch hgnc.symbol:CCNF semapv:UnspecifiedMatching -OMIM:600227 CCNF skos:exactMatch ncbigene:899 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C1419868 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch UMLS:C4748292 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:10599 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:SCNN1A semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch ncbigene:6337 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch UMLS:C1420122 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:10942 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:SLC1A4 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch ncbigene:6509 semapv:UnspecifiedMatching -OMIM:600230 PLCB3 skos:exactMatch UMLS:C1335225 semapv:UnspecifiedMatching -OMIM:600230 PLCB3 skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching -OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:9056 semapv:UnspecifiedMatching -OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:PLCB3 semapv:UnspecifiedMatching -OMIM:600230 PLCB3 skos:exactMatch ncbigene:5331 semapv:UnspecifiedMatching -OMIM:600232 GABRB2 skos:exactMatch hgnc.symbol:4082 semapv:UnspecifiedMatching -OMIM:600232 GABRB2 skos:exactMatch hgnc.symbol:GABRB2 semapv:UnspecifiedMatching -OMIM:600232 GABRB2 skos:exactMatch ncbigene:2561 semapv:UnspecifiedMatching -OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:4088 semapv:UnspecifiedMatching -OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:GABRG3 semapv:UnspecifiedMatching -OMIM:600233 GABRG3 skos:exactMatch ncbigene:2567 semapv:UnspecifiedMatching -OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:5008 semapv:UnspecifiedMatching -OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:HMGCS2 semapv:UnspecifiedMatching -OMIM:600234 HMGCS2 skos:exactMatch ncbigene:3158 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch UMLS:C1419857 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch UMLS:C2748541 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch UMLS:C3809311 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:10586 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:SCN1B semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch ncbigene:6324 semapv:UnspecifiedMatching -OMIM:600236 CENPF skos:exactMatch hgnc.symbol:1857 semapv:UnspecifiedMatching -OMIM:600236 CENPF skos:exactMatch hgnc.symbol:CENPF semapv:UnspecifiedMatching -OMIM:600236 CENPF skos:exactMatch ncbigene:1063 semapv:UnspecifiedMatching -OMIM:600237 HIRA skos:exactMatch UMLS:C1415549 semapv:UnspecifiedMatching -OMIM:600237 HIRA skos:exactMatch hgnc.symbol:4916 semapv:UnspecifiedMatching -OMIM:600237 HIRA skos:exactMatch hgnc.symbol:HIRA semapv:UnspecifiedMatching -OMIM:600237 HIRA skos:exactMatch ncbigene:7290 semapv:UnspecifiedMatching -OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:11779 semapv:UnspecifiedMatching -OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:TGM3 semapv:UnspecifiedMatching -OMIM:600238 TGM3 skos:exactMatch ncbigene:7053 semapv:UnspecifiedMatching -OMIM:600239 CMKLR2 skos:exactMatch hgnc.symbol:4463 semapv:UnspecifiedMatching -OMIM:600239 CMKLR2 skos:exactMatch hgnc.symbol:CMKLR2 semapv:UnspecifiedMatching -OMIM:600239 CMKLR2 skos:exactMatch ncbigene:2825 semapv:UnspecifiedMatching -OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:4474 semapv:UnspecifiedMatching -OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:CCR10 semapv:UnspecifiedMatching -OMIM:600240 CCR10 skos:exactMatch ncbigene:2826 semapv:UnspecifiedMatching -OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:4484 semapv:UnspecifiedMatching -OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:GPR3 semapv:UnspecifiedMatching -OMIM:600241 GPR3 skos:exactMatch ncbigene:2827 semapv:UnspecifiedMatching -OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:1608 semapv:UnspecifiedMatching -OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:CCR7 semapv:UnspecifiedMatching -OMIM:600242 CCR7 skos:exactMatch ncbigene:1236 semapv:UnspecifiedMatching -OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:2664 semapv:UnspecifiedMatching -OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:DAD1 semapv:UnspecifiedMatching -OMIM:600243 DAD1 skos:exactMatch ncbigene:1603 semapv:UnspecifiedMatching -OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:8760 semapv:UnspecifiedMatching -OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:PDCD1 semapv:UnspecifiedMatching -OMIM:600244 PDCD1 skos:exactMatch ncbigene:5133 semapv:UnspecifiedMatching -OMIM:600245 FMOD skos:exactMatch hgnc.symbol:3774 semapv:UnspecifiedMatching -OMIM:600245 FMOD skos:exactMatch hgnc.symbol:FMOD semapv:UnspecifiedMatching -OMIM:600245 FMOD skos:exactMatch ncbigene:2331 semapv:UnspecifiedMatching -OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:3326 semapv:UnspecifiedMatching -OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:ELK4 semapv:UnspecifiedMatching -OMIM:600246 ELK4 skos:exactMatch ncbigene:2005 semapv:UnspecifiedMatching -OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:3325 semapv:UnspecifiedMatching -OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:ELK3 semapv:UnspecifiedMatching -OMIM:600247 ELK3 skos:exactMatch ncbigene:2004 semapv:UnspecifiedMatching -OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:3978 semapv:UnspecifiedMatching -OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:ALDH1L1 semapv:UnspecifiedMatching -OMIM:600249 ALDH1L1 skos:exactMatch ncbigene:10840 semapv:UnspecifiedMatching -OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:10645 semapv:UnspecifiedMatching -OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:XCL1 semapv:UnspecifiedMatching -OMIM:600250 XCL1 skos:exactMatch ncbigene:6375 semapv:UnspecifiedMatching -OMIM:600253 AHR skos:exactMatch UMLS:C0596123 semapv:UnspecifiedMatching -OMIM:600253 AHR skos:exactMatch UMLS:C5193041 semapv:UnspecifiedMatching -OMIM:600253 AHR skos:exactMatch hgnc.symbol:348 semapv:UnspecifiedMatching -OMIM:600253 AHR skos:exactMatch hgnc.symbol:AHR semapv:UnspecifiedMatching -OMIM:600253 AHR skos:exactMatch ncbigene:196 semapv:UnspecifiedMatching -OMIM:600258 PMS1 skos:exactMatch hgnc.symbol:9121 semapv:UnspecifiedMatching -OMIM:600258 PMS1 skos:exactMatch hgnc.symbol:PMS1 semapv:UnspecifiedMatching -OMIM:600258 PMS1 skos:exactMatch ncbigene:5378 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch UMLS:C0879391 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch UMLS:C1838333 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:9122 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:PMS2 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch ncbigene:5395 semapv:UnspecifiedMatching -OMIM:600262 PTGS2 skos:exactMatch UMLS:C1367485 semapv:UnspecifiedMatching -OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:9605 semapv:UnspecifiedMatching -OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:PTGS2 semapv:UnspecifiedMatching -OMIM:600262 PTGS2 skos:exactMatch ncbigene:5743 semapv:UnspecifiedMatching -OMIM:600263 helicobacter pylori infection, susceptibility to skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching -OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:896 semapv:UnspecifiedMatching -OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:AVPR1B semapv:UnspecifiedMatching -OMIM:600264 AVPR1B skos:exactMatch ncbigene:553 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1420088 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1864868 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch UMLS:C2936833 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:10907 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:SLC11A1 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch ncbigene:6556 semapv:UnspecifiedMatching -OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:9646 semapv:UnspecifiedMatching -OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:PTPN13 semapv:UnspecifiedMatching -OMIM:600267 PTPN13 skos:exactMatch ncbigene:5783 semapv:UnspecifiedMatching -OMIM:600268 oculoectodermal syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching -OMIM:600268 oculoectodermal syndrome skos:exactMatch UMLS:C1838329 semapv:UnspecifiedMatching -OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:8738 semapv:UnspecifiedMatching -OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:PCOLCE semapv:UnspecifiedMatching -OMIM:600270 PCOLCE skos:exactMatch ncbigene:5118 semapv:UnspecifiedMatching -OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:3037 semapv:UnspecifiedMatching -OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:DSC3 semapv:UnspecifiedMatching -OMIM:600271 DSC3 skos:exactMatch ncbigene:1825 semapv:UnspecifiedMatching -OMIM:600272 COIL skos:exactMatch hgnc.symbol:2184 semapv:UnspecifiedMatching -OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching -OMIM:600272 COIL skos:exactMatch ncbigene:8161 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching -OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:7882 semapv:UnspecifiedMatching -OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:NOTCH2 semapv:UnspecifiedMatching -OMIM:600275 NOTCH2 skos:exactMatch ncbigene:4853 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1417768 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1851710 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch UMLS:C3809084 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:7883 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:NOTCH3 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch ncbigene:4854 semapv:UnspecifiedMatching -OMIM:600277 ID3 skos:exactMatch hgnc.symbol:5362 semapv:UnspecifiedMatching -OMIM:600277 ID3 skos:exactMatch hgnc.symbol:ID3 semapv:UnspecifiedMatching -OMIM:600277 ID3 skos:exactMatch ncbigene:3399 semapv:UnspecifiedMatching -OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:9858 semapv:UnspecifiedMatching -OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:RAP1GAP semapv:UnspecifiedMatching -OMIM:600278 RAP1GAP skos:exactMatch ncbigene:5909 semapv:UnspecifiedMatching -OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:9713 semapv:UnspecifiedMatching -OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:PEX19 semapv:UnspecifiedMatching -OMIM:600279 PEX19 skos:exactMatch ncbigene:5824 semapv:UnspecifiedMatching -OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:8041 semapv:UnspecifiedMatching -OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:NUBP1 semapv:UnspecifiedMatching -OMIM:600280 NUBP1 skos:exactMatch ncbigene:4682 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch UMLS:C1415629 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch UMLS:C1852093 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch UMLS:C4014962 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:5024 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:HNF4A semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch ncbigene:3172 semapv:UnspecifiedMatching -OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:4582 semapv:UnspecifiedMatching -OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:GRIK4 semapv:UnspecifiedMatching -OMIM:600282 GRIK4 skos:exactMatch ncbigene:2900 semapv:UnspecifiedMatching -OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:4583 semapv:UnspecifiedMatching -OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:GRIK5 semapv:UnspecifiedMatching -OMIM:600283 GRIK5 skos:exactMatch ncbigene:2901 semapv:UnspecifiedMatching -OMIM:600284 ELL skos:exactMatch hgnc.symbol:23114 semapv:UnspecifiedMatching -OMIM:600284 ELL skos:exactMatch hgnc.symbol:ELL semapv:UnspecifiedMatching -OMIM:600284 ELL skos:exactMatch ncbigene:8178 semapv:UnspecifiedMatching -OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:3477 semapv:UnspecifiedMatching -OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:ETF1 semapv:UnspecifiedMatching -OMIM:600285 ETF1 skos:exactMatch ncbigene:2107 semapv:UnspecifiedMatching -OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:8983 semapv:UnspecifiedMatching -OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:PI4KA semapv:UnspecifiedMatching -OMIM:600286 PI4KA skos:exactMatch ncbigene:5297 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch UMLS:C1414988 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:4162 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:GARS1 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch ncbigene:2617 semapv:UnspecifiedMatching -OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:5022 semapv:UnspecifiedMatching -OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:FOXA2 semapv:UnspecifiedMatching -OMIM:600288 FOXA2 skos:exactMatch ncbigene:3170 semapv:UnspecifiedMatching -OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:6876 semapv:UnspecifiedMatching -OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:MAPK14 semapv:UnspecifiedMatching -OMIM:600289 MAPK14 skos:exactMatch ncbigene:1432 semapv:UnspecifiedMatching -OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:234 semapv:UnspecifiedMatching -OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:ADCY3 semapv:UnspecifiedMatching -OMIM:600291 ADCY3 skos:exactMatch ncbigene:109 semapv:UnspecifiedMatching -OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:235 semapv:UnspecifiedMatching -OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:ADCY4 semapv:UnspecifiedMatching -OMIM:600292 ADCY4 skos:exactMatch ncbigene:196883 semapv:UnspecifiedMatching -OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:236 semapv:UnspecifiedMatching -OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:ADCY5 semapv:UnspecifiedMatching -OMIM:600293 ADCY5 skos:exactMatch ncbigene:111 semapv:UnspecifiedMatching -OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:237 semapv:UnspecifiedMatching -OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:ADCY6 semapv:UnspecifiedMatching -OMIM:600294 ADCY6 skos:exactMatch ncbigene:112 semapv:UnspecifiedMatching -OMIM:600295 NPPB skos:exactMatch hgnc.symbol:7940 semapv:UnspecifiedMatching -OMIM:600295 NPPB skos:exactMatch hgnc.symbol:NPPB semapv:UnspecifiedMatching -OMIM:600295 NPPB skos:exactMatch ncbigene:4879 semapv:UnspecifiedMatching -OMIM:600296 NPPC skos:exactMatch hgnc.symbol:7941 semapv:UnspecifiedMatching -OMIM:600296 NPPC skos:exactMatch hgnc.symbol:NPPC semapv:UnspecifiedMatching -OMIM:600296 NPPC skos:exactMatch ncbigene:4880 semapv:UnspecifiedMatching -OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:1806 semapv:UnspecifiedMatching -OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:CDX2 semapv:UnspecifiedMatching -OMIM:600297 CDX2 skos:exactMatch ncbigene:1045 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch UMLS:C1416889 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:6653 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:LMX1A semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch ncbigene:4009 semapv:UnspecifiedMatching -OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:8727 semapv:UnspecifiedMatching -OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:PCM1 semapv:UnspecifiedMatching -OMIM:600299 PCM1 skos:exactMatch ncbigene:5108 semapv:UnspecifiedMatching -OMIM:600300 SLC1A2 skos:exactMatch UMLS:C1420120 semapv:UnspecifiedMatching -OMIM:600300 SLC1A2 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching -OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:10940 semapv:UnspecifiedMatching -OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:SLC1A2 semapv:UnspecifiedMatching -OMIM:600300 SLC1A2 skos:exactMatch ncbigene:6506 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch UMLS:C1412109 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:91 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:ACADSB semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch ncbigene:36 semapv:UnspecifiedMatching -OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:4568 semapv:UnspecifiedMatching -OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:RAPGEF1 semapv:UnspecifiedMatching -OMIM:600303 RAPGEF1 skos:exactMatch ncbigene:2889 semapv:UnspecifiedMatching -OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:2703 semapv:UnspecifiedMatching -OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:ECI1 semapv:UnspecifiedMatching -OMIM:600305 ECI1 skos:exactMatch ncbigene:1632 semapv:UnspecifiedMatching -OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:9542 semapv:UnspecifiedMatching -OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:PSMB5 semapv:UnspecifiedMatching -OMIM:600306 PSMB5 skos:exactMatch ncbigene:5693 semapv:UnspecifiedMatching -OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:9543 semapv:UnspecifiedMatching -OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:PSMB6 semapv:UnspecifiedMatching -OMIM:600307 PSMB6 skos:exactMatch ncbigene:5694 semapv:UnspecifiedMatching -OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:637 semapv:UnspecifiedMatching -OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:AQP4 semapv:UnspecifiedMatching -OMIM:600308 AQP4 skos:exactMatch ncbigene:361 semapv:UnspecifiedMatching -OMIM:600310 COMP skos:exactMatch hgnc.symbol:2227 semapv:UnspecifiedMatching -OMIM:600310 COMP skos:exactMatch hgnc.symbol:COMP semapv:UnspecifiedMatching -OMIM:600310 COMP skos:exactMatch ncbigene:1311 semapv:UnspecifiedMatching -OMIM:600311 GZMM skos:exactMatch hgnc.symbol:4712 semapv:UnspecifiedMatching -OMIM:600311 GZMM skos:exactMatch hgnc.symbol:GZMM semapv:UnspecifiedMatching -OMIM:600311 GZMM skos:exactMatch ncbigene:3004 semapv:UnspecifiedMatching -OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:8048 semapv:UnspecifiedMatching -OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:NUDT1 semapv:UnspecifiedMatching -OMIM:600312 NUDT1 skos:exactMatch ncbigene:4521 semapv:UnspecifiedMatching -OMIM:600314 SHB skos:exactMatch hgnc.symbol:10838 semapv:UnspecifiedMatching -OMIM:600314 SHB skos:exactMatch hgnc.symbol:SHB semapv:UnspecifiedMatching -OMIM:600314 SHB skos:exactMatch ncbigene:6461 semapv:UnspecifiedMatching -OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:11918 semapv:UnspecifiedMatching -OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:TNFRSF4 semapv:UnspecifiedMatching -OMIM:600315 TNFRSF4 skos:exactMatch ncbigene:7293 semapv:UnspecifiedMatching -OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:12013 semapv:UnspecifiedMatching -OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:TPM4 semapv:UnspecifiedMatching -OMIM:600317 TPM4 skos:exactMatch ncbigene:7171 semapv:UnspecifiedMatching -OMIM:600318 iia 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching -OMIM:600319 iia 1 diabetes mellitus 4 skos:exactMatch UMLS:C1838261 semapv:UnspecifiedMatching -OMIM:600320 iia 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching -OMIM:600321 iia 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch UMLS:C1420270 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch UMLS:C4225364 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:11132 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:SNAP25 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch ncbigene:6616 semapv:UnspecifiedMatching -OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:9991 semapv:UnspecifiedMatching -OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:RGS1 semapv:UnspecifiedMatching -OMIM:600323 RGS1 skos:exactMatch ncbigene:5996 semapv:UnspecifiedMatching -OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:10642 semapv:UnspecifiedMatching -OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:CXCL5 semapv:UnspecifiedMatching -OMIM:600324 CXCL5 skos:exactMatch ncbigene:6374 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch UMLS:C0812257 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:2747 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:DDX6 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch ncbigene:1656 semapv:UnspecifiedMatching -OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:11511 semapv:UnspecifiedMatching -OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:SYT3 semapv:UnspecifiedMatching -OMIM:600327 SYT3 skos:exactMatch ncbigene:84258 semapv:UnspecifiedMatching -OMIM:600328 MLLT6 skos:exactMatch UMLS:C1334517 semapv:UnspecifiedMatching -OMIM:600328 MLLT6 skos:exactMatch hgnc.symbol:7138 semapv:UnspecifiedMatching -OMIM:600328 MLLT6 skos:exactMatch hgnc.symbol:MLLT6 semapv:UnspecifiedMatching -OMIM:600328 MLLT6 skos:exactMatch ncbigene:4302 semapv:UnspecifiedMatching -OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:10936 semapv:UnspecifiedMatching -OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:SLC18A3 semapv:UnspecifiedMatching -OMIM:600336 SLC18A3 skos:exactMatch ncbigene:6572 semapv:UnspecifiedMatching -OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:1029 semapv:UnspecifiedMatching -OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:BDKRB1 semapv:UnspecifiedMatching -OMIM:600337 BDKRB1 skos:exactMatch ncbigene:623 semapv:UnspecifiedMatching -OMIM:600338 AADAC skos:exactMatch hgnc.symbol:17 semapv:UnspecifiedMatching -OMIM:600338 AADAC skos:exactMatch hgnc.symbol:AADAC semapv:UnspecifiedMatching -OMIM:600338 AADAC skos:exactMatch ncbigene:13 semapv:UnspecifiedMatching -OMIM:600339 HDGF skos:exactMatch hgnc.symbol:4856 semapv:UnspecifiedMatching -OMIM:600339 HDGF skos:exactMatch hgnc.symbol:HDGF semapv:UnspecifiedMatching -OMIM:600339 HDGF skos:exactMatch ncbigene:3068 semapv:UnspecifiedMatching -OMIM:600340 PLLP skos:exactMatch hgnc.symbol:18553 semapv:UnspecifiedMatching -OMIM:600340 PLLP skos:exactMatch hgnc.symbol:PLLP semapv:UnspecifiedMatching -OMIM:600340 PLLP skos:exactMatch ncbigene:51090 semapv:UnspecifiedMatching -OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:12446 semapv:UnspecifiedMatching -OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:TYRO3 semapv:UnspecifiedMatching -OMIM:600341 TYRO3 skos:exactMatch ncbigene:7301 semapv:UnspecifiedMatching -OMIM:600342 RGR skos:exactMatch hgnc.symbol:9990 semapv:UnspecifiedMatching -OMIM:600342 RGR skos:exactMatch hgnc.symbol:RGR semapv:UnspecifiedMatching -OMIM:600342 RGR skos:exactMatch ncbigene:5995 semapv:UnspecifiedMatching -OMIM:600345 BTC skos:exactMatch hgnc.symbol:1121 semapv:UnspecifiedMatching -OMIM:600345 BTC skos:exactMatch hgnc.symbol:BTC semapv:UnspecifiedMatching -OMIM:600345 BTC skos:exactMatch ncbigene:685 semapv:UnspecifiedMatching -OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:12929 semapv:UnspecifiedMatching -OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:PCGF2 semapv:UnspecifiedMatching -OMIM:600346 PCGF2 skos:exactMatch ncbigene:7703 semapv:UnspecifiedMatching -OMIM:600347 BCAN skos:exactMatch hgnc.symbol:23059 semapv:UnspecifiedMatching -OMIM:600347 BCAN skos:exactMatch hgnc.symbol:BCAN semapv:UnspecifiedMatching -OMIM:600347 BCAN skos:exactMatch ncbigene:63827 semapv:UnspecifiedMatching -OMIM:600349 ID1 skos:exactMatch hgnc.symbol:5360 semapv:UnspecifiedMatching -OMIM:600349 ID1 skos:exactMatch hgnc.symbol:ID1 semapv:UnspecifiedMatching -OMIM:600349 ID1 skos:exactMatch ncbigene:3397 semapv:UnspecifiedMatching -OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:10497 semapv:UnspecifiedMatching -OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:S100A7 semapv:UnspecifiedMatching -OMIM:600353 S100A7 skos:exactMatch ncbigene:6278 semapv:UnspecifiedMatching -OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:11117 semapv:UnspecifiedMatching -OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:SMN1 semapv:UnspecifiedMatching -OMIM:600354 SMN1 skos:exactMatch ncbigene:6606 semapv:UnspecifiedMatching -OMIM:600355 NAIP skos:exactMatch hgnc.symbol:7634 semapv:UnspecifiedMatching -OMIM:600355 NAIP skos:exactMatch hgnc.symbol:NAIP semapv:UnspecifiedMatching -OMIM:600355 NAIP skos:exactMatch ncbigene:4671 semapv:UnspecifiedMatching -OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:10441 semapv:UnspecifiedMatching -OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:RPS8 semapv:UnspecifiedMatching -OMIM:600357 RPS8 skos:exactMatch ncbigene:6202 semapv:UnspecifiedMatching -OMIM:600358 GMPS skos:exactMatch hgnc.symbol:4378 semapv:UnspecifiedMatching -OMIM:600358 GMPS skos:exactMatch hgnc.symbol:GMPS semapv:UnspecifiedMatching -OMIM:600358 GMPS skos:exactMatch ncbigene:8833 semapv:UnspecifiedMatching -OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:6255 semapv:UnspecifiedMatching -OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:KCNJ1 semapv:UnspecifiedMatching -OMIM:600359 KCNJ1 skos:exactMatch ncbigene:3758 semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch UMLS:C1414634 semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch hgnc.symbol:3750 semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch hgnc.symbol:FLII semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch ncbigene:2314 semapv:UnspecifiedMatching -OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:4678 semapv:UnspecifiedMatching -OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:GUCA1A semapv:UnspecifiedMatching -OMIM:600364 GUCA1A skos:exactMatch ncbigene:2978 semapv:UnspecifiedMatching -OMIM:600365 ABR skos:exactMatch hgnc.symbol:81 semapv:UnspecifiedMatching -OMIM:600365 ABR skos:exactMatch hgnc.symbol:ABR semapv:UnspecifiedMatching -OMIM:600365 ABR skos:exactMatch ncbigene:29 semapv:UnspecifiedMatching -OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:6132 semapv:UnspecifiedMatching -OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:ISL1 semapv:UnspecifiedMatching -OMIM:600366 ISL1 skos:exactMatch ncbigene:3670 semapv:UnspecifiedMatching -OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:2485 semapv:UnspecifiedMatching -OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:CSTF3 semapv:UnspecifiedMatching -OMIM:600367 CSTF3 skos:exactMatch ncbigene:1479 semapv:UnspecifiedMatching -OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:2483 semapv:UnspecifiedMatching -OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:CSTF1 semapv:UnspecifiedMatching -OMIM:600369 CSTF1 skos:exactMatch ncbigene:1477 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1420160 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:10989 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:SLC25A3 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch ncbigene:5250 semapv:UnspecifiedMatching -OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:7723 semapv:UnspecifiedMatching -OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:NEDD1 semapv:UnspecifiedMatching -OMIM:600372 NEDD1 skos:exactMatch ncbigene:121441 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch UMLS:C1412749 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch UMLS:C2936864 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:969 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:BBS4 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch ncbigene:585 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch UMLS:C1337031 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch UMLS:C4310651 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:12829 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:XRCC2 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch ncbigene:7516 semapv:UnspecifiedMatching -OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:4132 semapv:UnspecifiedMatching -OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:GALR1 semapv:UnspecifiedMatching -OMIM:600377 GALR1 skos:exactMatch ncbigene:2587 semapv:UnspecifiedMatching -OMIM:600378 IMMT skos:exactMatch hgnc.symbol:6047 semapv:UnspecifiedMatching -OMIM:600378 IMMT skos:exactMatch hgnc.symbol:IMMT semapv:UnspecifiedMatching -OMIM:600378 IMMT skos:exactMatch ncbigene:10989 semapv:UnspecifiedMatching -OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:7622 semapv:UnspecifiedMatching -OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:MYT1 semapv:UnspecifiedMatching -OMIM:600379 MYT1 skos:exactMatch ncbigene:4661 semapv:UnspecifiedMatching -OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:7965 semapv:UnspecifiedMatching -OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:NR1H2 semapv:UnspecifiedMatching -OMIM:600380 NR1H2 skos:exactMatch ncbigene:7376 semapv:UnspecifiedMatching -OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:6467 semapv:UnspecifiedMatching -OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:KTN1 semapv:UnspecifiedMatching -OMIM:600381 KTN1 skos:exactMatch ncbigene:3895 semapv:UnspecifiedMatching -OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:24321 semapv:UnspecifiedMatching -OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:DENND4A semapv:UnspecifiedMatching -OMIM:600382 myc promoter-binding protein skos:exactMatch ncbigene:10260 semapv:UnspecifiedMatching -OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:238 semapv:UnspecifiedMatching -OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:ADCY7 semapv:UnspecifiedMatching -OMIM:600385 ADCY7 skos:exactMatch ncbigene:113 semapv:UnspecifiedMatching -OMIM:600386 ID2 skos:exactMatch hgnc.symbol:5361 semapv:UnspecifiedMatching -OMIM:600386 ID2 skos:exactMatch hgnc.symbol:ID2 semapv:UnspecifiedMatching -OMIM:600386 ID2 skos:exactMatch ncbigene:3398 semapv:UnspecifiedMatching -OMIM:600387 BST1 skos:exactMatch hgnc.symbol:1118 semapv:UnspecifiedMatching -OMIM:600387 BST1 skos:exactMatch hgnc.symbol:BST1 semapv:UnspecifiedMatching -OMIM:600387 BST1 skos:exactMatch ncbigene:683 semapv:UnspecifiedMatching -OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:7015 semapv:UnspecifiedMatching -OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:MEP1A semapv:UnspecifiedMatching -OMIM:600388 MEP1A skos:exactMatch ncbigene:4224 semapv:UnspecifiedMatching -OMIM:600389 MEP1B skos:exactMatch UMLS:C1417118 semapv:UnspecifiedMatching -OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:7020 semapv:UnspecifiedMatching -OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:MEP1B semapv:UnspecifiedMatching -OMIM:600389 MEP1B skos:exactMatch ncbigene:4225 semapv:UnspecifiedMatching -OMIM:600390 USF2 skos:exactMatch hgnc.symbol:12594 semapv:UnspecifiedMatching -OMIM:600390 USF2 skos:exactMatch hgnc.symbol:USF2 semapv:UnspecifiedMatching -OMIM:600390 USF2 skos:exactMatch ncbigene:7392 semapv:UnspecifiedMatching -OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:4203 semapv:UnspecifiedMatching -OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:GCNT1 semapv:UnspecifiedMatching -OMIM:600391 GCNT1 skos:exactMatch ncbigene:2650 semapv:UnspecifiedMatching -OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:9824 semapv:UnspecifiedMatching -OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:RAD52 semapv:UnspecifiedMatching -OMIM:600392 RAD52 skos:exactMatch ncbigene:5893 semapv:UnspecifiedMatching -OMIM:600393 FEN1 skos:exactMatch UMLS:C1414583 semapv:UnspecifiedMatching -OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:3650 semapv:UnspecifiedMatching -OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:FEN1 semapv:UnspecifiedMatching -OMIM:600393 FEN1 skos:exactMatch ncbigene:2237 semapv:UnspecifiedMatching -OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:4449 semapv:UnspecifiedMatching -OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:GPC1 semapv:UnspecifiedMatching -OMIM:600395 GPC1 skos:exactMatch ncbigene:2817 semapv:UnspecifiedMatching -OMIM:600396 DHX8 skos:exactMatch UMLS:C1413965 semapv:UnspecifiedMatching -OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:2749 semapv:UnspecifiedMatching -OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:DHX8 semapv:UnspecifiedMatching -OMIM:600396 DHX8 skos:exactMatch ncbigene:1659 semapv:UnspecifiedMatching -OMIM:600397 KCNB1 skos:exactMatch UMLS:C1416554 semapv:UnspecifiedMatching -OMIM:600397 KCNB1 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching -OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:6231 semapv:UnspecifiedMatching -OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:KCNB1 semapv:UnspecifiedMatching -OMIM:600397 KCNB1 skos:exactMatch ncbigene:3745 semapv:UnspecifiedMatching -OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:12948 semapv:UnspecifiedMatching -OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:ZNF160 semapv:UnspecifiedMatching -OMIM:600398 ZNF160 skos:exactMatch ncbigene:90338 semapv:UnspecifiedMatching -OMIM:600400 PREP skos:exactMatch hgnc.symbol:9358 semapv:UnspecifiedMatching -OMIM:600400 PREP skos:exactMatch hgnc.symbol:PREP semapv:UnspecifiedMatching -OMIM:600400 PREP skos:exactMatch ncbigene:5550 semapv:UnspecifiedMatching -OMIM:600403 FAP skos:exactMatch hgnc.symbol:3590 semapv:UnspecifiedMatching -OMIM:600403 FAP skos:exactMatch hgnc.symbol:FAP semapv:UnspecifiedMatching -OMIM:600403 FAP skos:exactMatch ncbigene:2191 semapv:UnspecifiedMatching -OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:9970 semapv:UnspecifiedMatching -OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:RFC2 semapv:UnspecifiedMatching -OMIM:600404 RFC2 skos:exactMatch ncbigene:5982 semapv:UnspecifiedMatching -OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:9971 semapv:UnspecifiedMatching -OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:RFC3 semapv:UnspecifiedMatching -OMIM:600405 RFC3 skos:exactMatch ncbigene:5983 semapv:UnspecifiedMatching -OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:9973 semapv:UnspecifiedMatching -OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:RFC5 semapv:UnspecifiedMatching -OMIM:600407 RFC5 skos:exactMatch ncbigene:5985 semapv:UnspecifiedMatching -OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:2730 semapv:UnspecifiedMatching -OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:DDR1 semapv:UnspecifiedMatching -OMIM:600408 DDR1 skos:exactMatch ncbigene:780 semapv:UnspecifiedMatching -OMIM:600409 PPARD skos:exactMatch hgnc.symbol:9235 semapv:UnspecifiedMatching -OMIM:600409 PPARD skos:exactMatch hgnc.symbol:PPARD semapv:UnspecifiedMatching -OMIM:600409 PPARD skos:exactMatch ncbigene:5467 semapv:UnspecifiedMatching -OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:11898 semapv:UnspecifiedMatching -OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:TNFAIP6 semapv:UnspecifiedMatching -OMIM:600410 TNFAIP6 skos:exactMatch ncbigene:7130 semapv:UnspecifiedMatching -OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:4182 semapv:UnspecifiedMatching -OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:GBP1 semapv:UnspecifiedMatching -OMIM:600411 GBP1 skos:exactMatch ncbigene:2633 semapv:UnspecifiedMatching -OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:4183 semapv:UnspecifiedMatching -OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:GBP2 semapv:UnspecifiedMatching -OMIM:600412 GBP2 skos:exactMatch ncbigene:2634 semapv:UnspecifiedMatching -OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:4184 semapv:UnspecifiedMatching -OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:GBP3 semapv:UnspecifiedMatching -OMIM:600413 GBP3 skos:exactMatch ncbigene:2635 semapv:UnspecifiedMatching -OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:9719 semapv:UnspecifiedMatching -OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:PEX5 semapv:UnspecifiedMatching -OMIM:600414 PEX5 skos:exactMatch ncbigene:5830 semapv:UnspecifiedMatching -OMIM:600415 TTPA skos:exactMatch hgnc.symbol:12404 semapv:UnspecifiedMatching -OMIM:600415 TTPA skos:exactMatch hgnc.symbol:TTPA semapv:UnspecifiedMatching -OMIM:600415 TTPA skos:exactMatch ncbigene:7274 semapv:UnspecifiedMatching -OMIM:600417 NT5C2 skos:exactMatch UMLS:C1417862 semapv:UnspecifiedMatching -OMIM:600417 NT5C2 skos:exactMatch UMLS:C4016664 semapv:UnspecifiedMatching -OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:8022 semapv:UnspecifiedMatching -OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:NT5C2 semapv:UnspecifiedMatching -OMIM:600417 NT5C2 skos:exactMatch ncbigene:22978 semapv:UnspecifiedMatching -OMIM:600418 AMPH skos:exactMatch hgnc.symbol:471 semapv:UnspecifiedMatching -OMIM:600418 AMPH skos:exactMatch hgnc.symbol:AMPH semapv:UnspecifiedMatching -OMIM:600418 AMPH skos:exactMatch ncbigene:273 semapv:UnspecifiedMatching -OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:4328 semapv:UnspecifiedMatching -OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:GLRA3 semapv:UnspecifiedMatching -OMIM:600421 GLRA3 skos:exactMatch ncbigene:8001 semapv:UnspecifiedMatching -OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:3561 semapv:UnspecifiedMatching -OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:FABP6 semapv:UnspecifiedMatching -OMIM:600422 FABP6 skos:exactMatch ncbigene:2172 semapv:UnspecifiedMatching -OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:3146 semapv:UnspecifiedMatching -OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:ECE1 semapv:UnspecifiedMatching -OMIM:600423 ECE1 skos:exactMatch ncbigene:1889 semapv:UnspecifiedMatching -OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:10937 semapv:UnspecifiedMatching -OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:SLC19A1 semapv:UnspecifiedMatching -OMIM:600424 SLC19A1 skos:exactMatch ncbigene:6573 semapv:UnspecifiedMatching -OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:3114 semapv:UnspecifiedMatching -OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:E2F2 semapv:UnspecifiedMatching -OMIM:600426 E2F2 skos:exactMatch ncbigene:1870 semapv:UnspecifiedMatching -OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:3115 semapv:UnspecifiedMatching -OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:E2F3 semapv:UnspecifiedMatching -OMIM:600427 E2F3 skos:exactMatch ncbigene:1871 semapv:UnspecifiedMatching -OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:12658 semapv:UnspecifiedMatching -OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:VAV2 semapv:UnspecifiedMatching -OMIM:600428 VAV2 skos:exactMatch ncbigene:7410 semapv:UnspecifiedMatching -OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:4204 semapv:UnspecifiedMatching -OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:GCNT2 semapv:UnspecifiedMatching -OMIM:600429 GCNT2 skos:exactMatch ncbigene:2651 semapv:UnspecifiedMatching -OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:1788 semapv:UnspecifiedMatching -OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:CDKN2B semapv:UnspecifiedMatching -OMIM:600431 CDKN2B skos:exactMatch ncbigene:1030 semapv:UnspecifiedMatching -OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:1543 semapv:UnspecifiedMatching -OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:CBLN1 semapv:UnspecifiedMatching -OMIM:600432 CBLN1 skos:exactMatch ncbigene:869 semapv:UnspecifiedMatching -OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:1544 semapv:UnspecifiedMatching -OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:CBLN2 semapv:UnspecifiedMatching -OMIM:600433 CBLN2 skos:exactMatch ncbigene:147381 semapv:UnspecifiedMatching -OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:3559 semapv:UnspecifiedMatching -OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:FABP4 semapv:UnspecifiedMatching -OMIM:600434 FABP4 skos:exactMatch ncbigene:2167 semapv:UnspecifiedMatching -OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:2499 semapv:UnspecifiedMatching -OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:CTF1 semapv:UnspecifiedMatching -OMIM:600435 CTF1 skos:exactMatch ncbigene:1489 semapv:UnspecifiedMatching -OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:4641 semapv:UnspecifiedMatching -OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:GSTT1 semapv:UnspecifiedMatching -OMIM:600436 GSTT1 skos:exactMatch ncbigene:2952 semapv:UnspecifiedMatching -OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:4642 semapv:UnspecifiedMatching -OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:GSTT2 semapv:UnspecifiedMatching -OMIM:600437 GSTT2 skos:exactMatch ncbigene:2953 semapv:UnspecifiedMatching -OMIM:600438 TFAM skos:exactMatch UMLS:C1420696 semapv:UnspecifiedMatching -OMIM:600438 TFAM skos:exactMatch UMLS:C4310690 semapv:UnspecifiedMatching -OMIM:600438 TFAM skos:exactMatch hgnc.symbol:11741 semapv:UnspecifiedMatching -OMIM:600438 TFAM skos:exactMatch hgnc.symbol:TFAM semapv:UnspecifiedMatching -OMIM:600438 TFAM skos:exactMatch ncbigene:7019 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch UMLS:C1420424 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch hgnc.symbol:11317 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch hgnc.symbol:SSBP1 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch ncbigene:6742 semapv:UnspecifiedMatching -OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:3346 semapv:UnspecifiedMatching -OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:ENDOG semapv:UnspecifiedMatching -OMIM:600440 ENDOG skos:exactMatch ncbigene:2021 semapv:UnspecifiedMatching -OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:4168 semapv:UnspecifiedMatching -OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:GAS6 semapv:UnspecifiedMatching -OMIM:600441 GAS6 skos:exactMatch ncbigene:2621 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch UMLS:C1412495 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch UMLS:C1838359 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:638 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:AQP5 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch ncbigene:362 semapv:UnspecifiedMatching -OMIM:600443 GLRX skos:exactMatch hgnc.symbol:4330 semapv:UnspecifiedMatching -OMIM:600443 GLRX skos:exactMatch hgnc.symbol:GLRX semapv:UnspecifiedMatching -OMIM:600443 GLRX skos:exactMatch ncbigene:2745 semapv:UnspecifiedMatching -OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:11038 semapv:UnspecifiedMatching -OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:SLC5A3 semapv:UnspecifiedMatching -OMIM:600444 SLC5A3 skos:exactMatch ncbigene:6526 semapv:UnspecifiedMatching -OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:268 semapv:UnspecifiedMatching -OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:ADORA3 semapv:UnspecifiedMatching -OMIM:600445 ADORA3 skos:exactMatch ncbigene:140 semapv:UnspecifiedMatching -OMIM:600446 ADORA2B skos:exactMatch UMLS:C1412247 semapv:UnspecifiedMatching -OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:264 semapv:UnspecifiedMatching -OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:ADORA2B semapv:UnspecifiedMatching -OMIM:600446 ADORA2B skos:exactMatch ncbigene:136 semapv:UnspecifiedMatching -OMIM:600447 MAP3K12 skos:exactMatch hgnc.symbol:6851 semapv:UnspecifiedMatching -OMIM:600447 MAP3K12 skos:exactMatch hgnc.symbol:MAP3K12 semapv:UnspecifiedMatching -OMIM:600447 MAP3K12 skos:exactMatch ncbigene:7786 semapv:UnspecifiedMatching -OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:9410 semapv:UnspecifiedMatching -OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:PRKCQ semapv:UnspecifiedMatching -OMIM:600448 PRKCQ skos:exactMatch ncbigene:5588 semapv:UnspecifiedMatching -OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:384 semapv:UnspecifiedMatching -OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:AKR1C1 semapv:UnspecifiedMatching -OMIM:600449 AKR1C1 skos:exactMatch ncbigene:1645 semapv:UnspecifiedMatching -OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:385 semapv:UnspecifiedMatching -OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:AKR1C2 semapv:UnspecifiedMatching -OMIM:600450 AKR1C2 skos:exactMatch ncbigene:1646 semapv:UnspecifiedMatching -OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:387 semapv:UnspecifiedMatching -OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:AKR1C4 semapv:UnspecifiedMatching -OMIM:600451 AKR1C4 skos:exactMatch ncbigene:1109 semapv:UnspecifiedMatching -OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:12932 semapv:UnspecifiedMatching -OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:TRIM25 semapv:UnspecifiedMatching -OMIM:600453 TRIM25 skos:exactMatch ncbigene:7706 semapv:UnspecifiedMatching -OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:10420 semapv:UnspecifiedMatching -OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:RPS3 semapv:UnspecifiedMatching -OMIM:600454 RPS3 skos:exactMatch ncbigene:6188 semapv:UnspecifiedMatching -OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:10114 semapv:UnspecifiedMatching -OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:SNORD15A semapv:UnspecifiedMatching -OMIM:600455 RNU15A skos:exactMatch ncbigene:6079 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch UMLS:C1334909 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch UMLS:C3151303 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:8032 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:NTRK2 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch ncbigene:4915 semapv:UnspecifiedMatching -OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:409 semapv:UnspecifiedMatching -OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:ALDH1A3 semapv:UnspecifiedMatching -OMIM:600463 ALDH1A3 skos:exactMatch ncbigene:220 semapv:UnspecifiedMatching -OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:659 semapv:UnspecifiedMatching -OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:ARF6 semapv:UnspecifiedMatching -OMIM:600464 ARF6 skos:exactMatch ncbigene:382 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch UMLS:C1412404 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:494 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:ANK3 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch ncbigene:288 semapv:UnspecifiedMatching -OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:410 semapv:UnspecifiedMatching -OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:ALDH3B1 semapv:UnspecifiedMatching -OMIM:600466 ALDH3B1 skos:exactMatch ncbigene:221 semapv:UnspecifiedMatching -OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:7658 semapv:UnspecifiedMatching -OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:NCBP1 semapv:UnspecifiedMatching -OMIM:600469 NCBP1 skos:exactMatch ncbigene:4686 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch UMLS:C1421581 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:12872 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:ZIC1 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch ncbigene:7545 semapv:UnspecifiedMatching -OMIM:600471 DEFA6 skos:exactMatch UMLS:C1413977 semapv:UnspecifiedMatching -OMIM:600471 DEFA6 skos:exactMatch hgnc.symbol:2765 semapv:UnspecifiedMatching -OMIM:600471 DEFA6 skos:exactMatch hgnc.symbol:DEFA6 semapv:UnspecifiedMatching -OMIM:600471 DEFA6 skos:exactMatch ncbigene:1671 semapv:UnspecifiedMatching -OMIM:600472 DEFA5 skos:exactMatch UMLS:C1413976 semapv:UnspecifiedMatching -OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:2764 semapv:UnspecifiedMatching -OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:DEFA5 semapv:UnspecifiedMatching -OMIM:600472 DEFA5 skos:exactMatch ncbigene:1670 semapv:UnspecifiedMatching -OMIM:600473 PURA skos:exactMatch hgnc.symbol:9701 semapv:UnspecifiedMatching -OMIM:600473 PURA skos:exactMatch hgnc.symbol:PURA semapv:UnspecifiedMatching -OMIM:600473 PURA skos:exactMatch ncbigene:5813 semapv:UnspecifiedMatching -OMIM:600474 CAMP skos:exactMatch hgnc.symbol:1472 semapv:UnspecifiedMatching -OMIM:600474 CAMP skos:exactMatch hgnc.symbol:CAMP semapv:UnspecifiedMatching -OMIM:600474 CAMP skos:exactMatch ncbigene:820 semapv:UnspecifiedMatching -OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:11543 semapv:UnspecifiedMatching -OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:TAF10 semapv:UnspecifiedMatching -OMIM:600475 TAF10 skos:exactMatch ncbigene:6881 semapv:UnspecifiedMatching -OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:11078 semapv:UnspecifiedMatching -OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:SLC9A5 semapv:UnspecifiedMatching -OMIM:600477 SLC9A5 skos:exactMatch ncbigene:6553 semapv:UnspecifiedMatching -OMIM:600478 SKIC2 skos:exactMatch hgnc.symbol:SKIC2 semapv:UnspecifiedMatching -OMIM:600478 SKIC2 skos:exactMatch ncbigene:6499 semapv:UnspecifiedMatching -OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:11623 semapv:UnspecifiedMatching -OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:TCF12 semapv:UnspecifiedMatching -OMIM:600480 TCF12 skos:exactMatch ncbigene:6938 semapv:UnspecifiedMatching -OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:11290 semapv:UnspecifiedMatching -OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:SREBF2 semapv:UnspecifiedMatching -OMIM:600481 SREBF2 skos:exactMatch ncbigene:6721 semapv:UnspecifiedMatching -OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:3686 semapv:UnspecifiedMatching -OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:FGF8 semapv:UnspecifiedMatching -OMIM:600483 FGF8 skos:exactMatch ncbigene:2253 semapv:UnspecifiedMatching -OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:8746 semapv:UnspecifiedMatching -OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:PCSK4 semapv:UnspecifiedMatching -OMIM:600487 PCSK4 skos:exactMatch ncbigene:54760 semapv:UnspecifiedMatching -OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:8747 semapv:UnspecifiedMatching -OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:PCSK5 semapv:UnspecifiedMatching -OMIM:600488 PCSK5 skos:exactMatch ncbigene:5125 semapv:UnspecifiedMatching -OMIM:600489 NFATC1 skos:exactMatch UMLS:C1417694 semapv:UnspecifiedMatching -OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:7775 semapv:UnspecifiedMatching -OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:NFATC1 semapv:UnspecifiedMatching -OMIM:600489 NFATC1 skos:exactMatch ncbigene:4772 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch UMLS:C1417695 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:7776 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:NFATC2 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch ncbigene:4773 semapv:UnspecifiedMatching -OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:7034 semapv:UnspecifiedMatching -OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:MFAP3 semapv:UnspecifiedMatching -OMIM:600491 MFAP3 skos:exactMatch ncbigene:4238 semapv:UnspecifiedMatching -OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:7782 semapv:UnspecifiedMatching -OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:NFE2L2 semapv:UnspecifiedMatching -OMIM:600492 NFE2L2 skos:exactMatch ncbigene:4780 semapv:UnspecifiedMatching -OMIM:600493 ADGRE1 skos:exactMatch hgnc.symbol:3336 semapv:UnspecifiedMatching -OMIM:600493 ADGRE1 skos:exactMatch hgnc.symbol:ADGRE1 semapv:UnspecifiedMatching -OMIM:600493 ADGRE1 skos:exactMatch ncbigene:2015 semapv:UnspecifiedMatching -OMIM:600494 POU3F2 skos:exactMatch hgnc.symbol:9215 semapv:UnspecifiedMatching -OMIM:600494 POU3F2 skos:exactMatch hgnc.symbol:POU3F2 semapv:UnspecifiedMatching -OMIM:600494 POU3F2 skos:exactMatch ncbigene:5454 semapv:UnspecifiedMatching -OMIM:600495 EIF4G1 skos:exactMatch hgnc.symbol:3296 semapv:UnspecifiedMatching -OMIM:600495 EIF4G1 skos:exactMatch hgnc.symbol:EIF4G1 semapv:UnspecifiedMatching -OMIM:600495 EIF4G1 skos:exactMatch ncbigene:1981 semapv:UnspecifiedMatching -OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:9377 semapv:UnspecifiedMatching -OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:PRKAA2 semapv:UnspecifiedMatching -OMIM:600497 PRKAA2 skos:exactMatch ncbigene:5563 semapv:UnspecifiedMatching -OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:5542 semapv:UnspecifiedMatching -OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:IGHMBP2 semapv:UnspecifiedMatching -OMIM:600502 IGHMBP2 skos:exactMatch ncbigene:3508 semapv:UnspecifiedMatching -OMIM:600503 SUB1 skos:exactMatch UMLS:C1709390 semapv:UnspecifiedMatching -OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:19985 semapv:UnspecifiedMatching -OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:SUB1 semapv:UnspecifiedMatching -OMIM:600503 SUB1 skos:exactMatch ncbigene:10923 semapv:UnspecifiedMatching -OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:6265 semapv:UnspecifiedMatching -OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:KCNJ4 semapv:UnspecifiedMatching -OMIM:600504 KCNJ4 skos:exactMatch ncbigene:3761 semapv:UnspecifiedMatching -OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:2451 semapv:UnspecifiedMatching -OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:CSNK1A1 semapv:UnspecifiedMatching -OMIM:600505 CSNK1A1 skos:exactMatch ncbigene:1452 semapv:UnspecifiedMatching -OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:7664 semapv:UnspecifiedMatching -OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:NCK1 semapv:UnspecifiedMatching -OMIM:600508 NCK1 skos:exactMatch ncbigene:4690 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C1412082 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C2931832 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394566 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:59 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:ABCC8 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch ncbigene:6833 semapv:UnspecifiedMatching -OMIM:600514 RELN skos:exactMatch hgnc.symbol:9957 semapv:UnspecifiedMatching -OMIM:600514 RELN skos:exactMatch hgnc.symbol:RELN semapv:UnspecifiedMatching -OMIM:600514 RELN skos:exactMatch ncbigene:5649 semapv:UnspecifiedMatching -OMIM:600515 P2RY12 skos:exactMatch UMLS:C1425330 semapv:UnspecifiedMatching -OMIM:600515 P2RY12 skos:exactMatch UMLS:C1853278 semapv:UnspecifiedMatching -OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:18124 semapv:UnspecifiedMatching -OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:P2RY12 semapv:UnspecifiedMatching -OMIM:600515 P2RY12 skos:exactMatch ncbigene:64805 semapv:UnspecifiedMatching -OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:949 semapv:UnspecifiedMatching -OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:BAK1 semapv:UnspecifiedMatching -OMIM:600516 BAK1 skos:exactMatch ncbigene:578 semapv:UnspecifiedMatching -OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:10569 semapv:UnspecifiedMatching -OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:SERPINB3 semapv:UnspecifiedMatching -OMIM:600517 SERPINB3 skos:exactMatch ncbigene:6317 semapv:UnspecifiedMatching -OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:10570 semapv:UnspecifiedMatching -OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:SERPINB4 semapv:UnspecifiedMatching -OMIM:600518 SERPINB4 skos:exactMatch ncbigene:6318 semapv:UnspecifiedMatching -OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:4647 semapv:UnspecifiedMatching -OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:GTF2A2 semapv:UnspecifiedMatching -OMIM:600519 GTF2A2 skos:exactMatch ncbigene:2958 semapv:UnspecifiedMatching -OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:4646 semapv:UnspecifiedMatching -OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:GTF2A1 semapv:UnspecifiedMatching -OMIM:600520 GTF2A1 skos:exactMatch ncbigene:2957 semapv:UnspecifiedMatching -OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:6901 semapv:UnspecifiedMatching -OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:MASP1 semapv:UnspecifiedMatching -OMIM:600521 MASP1 skos:exactMatch ncbigene:5648 semapv:UnspecifiedMatching -OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:9035 semapv:UnspecifiedMatching -OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:PLA2G4A semapv:UnspecifiedMatching -OMIM:600522 PLA2G4A skos:exactMatch ncbigene:5321 semapv:UnspecifiedMatching -OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:10908 semapv:UnspecifiedMatching -OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:SLC11A2 semapv:UnspecifiedMatching -OMIM:600523 SLC11A2 skos:exactMatch ncbigene:4891 semapv:UnspecifiedMatching -OMIM:600524 RYK skos:exactMatch hgnc.symbol:10481 semapv:UnspecifiedMatching -OMIM:600524 RYK skos:exactMatch hgnc.symbol:RYK semapv:UnspecifiedMatching -OMIM:600524 RYK skos:exactMatch ncbigene:6259 semapv:UnspecifiedMatching -OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:2916 semapv:UnspecifiedMatching -OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:DLX3 semapv:UnspecifiedMatching -OMIM:600525 DLX3 skos:exactMatch ncbigene:1747 semapv:UnspecifiedMatching -OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:3332 semapv:UnspecifiedMatching -OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:MARK2 semapv:UnspecifiedMatching -OMIM:600526 MARK2 skos:exactMatch ncbigene:2011 semapv:UnspecifiedMatching -OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:3227 semapv:UnspecifiedMatching -OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:EFNB2 semapv:UnspecifiedMatching -OMIM:600527 EFNB2 skos:exactMatch ncbigene:1948 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C1413688 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C4749072 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch UMLS:C4749136 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:2328 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:CPT1A semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch ncbigene:1374 semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch UMLS:C1332121 semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch hgnc.symbol:890 semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch hgnc.symbol:AUH semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch ncbigene:549 semapv:UnspecifiedMatching -OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:11072 semapv:UnspecifiedMatching -OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:SLC9A2 semapv:UnspecifiedMatching -OMIM:600530 SLC9A2 skos:exactMatch ncbigene:6549 semapv:UnspecifiedMatching -OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:11077 semapv:UnspecifiedMatching -OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:SLC9A4 semapv:UnspecifiedMatching -OMIM:600531 SLC9A4 skos:exactMatch ncbigene:389015 semapv:UnspecifiedMatching -OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:7717 semapv:UnspecifiedMatching -OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:NDUFV2 semapv:UnspecifiedMatching -OMIM:600532 NDUFV2 skos:exactMatch ncbigene:4729 semapv:UnspecifiedMatching -OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:15511 semapv:UnspecifiedMatching -OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:VANGL2 semapv:UnspecifiedMatching -OMIM:600533 VANGL2 skos:exactMatch ncbigene:57216 semapv:UnspecifiedMatching -OMIM:600534 BST2 skos:exactMatch hgnc.symbol:1119 semapv:UnspecifiedMatching -OMIM:600534 BST2 skos:exactMatch hgnc.symbol:BST2 semapv:UnspecifiedMatching -OMIM:600534 BST2 skos:exactMatch ncbigene:684 semapv:UnspecifiedMatching -OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:7014 semapv:UnspecifiedMatching -OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:MEOX2 semapv:UnspecifiedMatching -OMIM:600535 MEOX2 skos:exactMatch ncbigene:4223 semapv:UnspecifiedMatching -OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:6143 semapv:UnspecifiedMatching -OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:ITGA7 semapv:UnspecifiedMatching -OMIM:600536 ITGA7 skos:exactMatch ncbigene:3679 semapv:UnspecifiedMatching -OMIM:600537 RECQL skos:exactMatch hgnc.symbol:9948 semapv:UnspecifiedMatching -OMIM:600537 RECQL skos:exactMatch hgnc.symbol:RECQL semapv:UnspecifiedMatching -OMIM:600537 RECQL skos:exactMatch ncbigene:5965 semapv:UnspecifiedMatching -OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:9353 semapv:UnspecifiedMatching -OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:PRDX2 semapv:UnspecifiedMatching -OMIM:600538 PRDX2 skos:exactMatch ncbigene:7001 semapv:UnspecifiedMatching -OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:9404 semapv:UnspecifiedMatching -OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:PRKCI semapv:UnspecifiedMatching -OMIM:600539 PRKCI skos:exactMatch ncbigene:5584 semapv:UnspecifiedMatching -OMIM:600540 SP4 skos:exactMatch hgnc.symbol:11209 semapv:UnspecifiedMatching -OMIM:600540 SP4 skos:exactMatch hgnc.symbol:SP4 semapv:UnspecifiedMatching -OMIM:600540 SP4 skos:exactMatch ncbigene:6671 semapv:UnspecifiedMatching -OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:3490 semapv:UnspecifiedMatching -OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:ETV1 semapv:UnspecifiedMatching -OMIM:600541 ETV1 skos:exactMatch ncbigene:2115 semapv:UnspecifiedMatching -OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:7982 semapv:UnspecifiedMatching -OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:NR4A3 semapv:UnspecifiedMatching -OMIM:600542 NR4A3 skos:exactMatch ncbigene:8013 semapv:UnspecifiedMatching -OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:3432 semapv:UnspecifiedMatching -OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:ERBB4 semapv:UnspecifiedMatching -OMIM:600543 ERBB4 skos:exactMatch ncbigene:2066 semapv:UnspecifiedMatching -OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:10920 semapv:UnspecifiedMatching -OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:SLC15A1 semapv:UnspecifiedMatching -OMIM:600544 SLC15A1 skos:exactMatch ncbigene:6564 semapv:UnspecifiedMatching -OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:1564 semapv:UnspecifiedMatching -OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:KYAT1 semapv:UnspecifiedMatching -OMIM:600547 CCBL1 skos:exactMatch ncbigene:883 semapv:UnspecifiedMatching -OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:5244 semapv:UnspecifiedMatching -OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:HSPA9 semapv:UnspecifiedMatching -OMIM:600548 HSPA9 skos:exactMatch ncbigene:3313 semapv:UnspecifiedMatching -OMIM:600549 IK skos:exactMatch hgnc.symbol:5958 semapv:UnspecifiedMatching -OMIM:600549 IK skos:exactMatch hgnc.symbol:IK semapv:UnspecifiedMatching -OMIM:600549 IK skos:exactMatch ncbigene:3550 semapv:UnspecifiedMatching -OMIM:600550 CTSO skos:exactMatch hgnc.symbol:2542 semapv:UnspecifiedMatching -OMIM:600550 CTSO skos:exactMatch hgnc.symbol:CTSO semapv:UnspecifiedMatching -OMIM:600550 CTSO skos:exactMatch ncbigene:1519 semapv:UnspecifiedMatching -OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:4497 semapv:UnspecifiedMatching -OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:GPR4 semapv:UnspecifiedMatching -OMIM:600551 GPR4 skos:exactMatch ncbigene:2828 semapv:UnspecifiedMatching -OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:1625 semapv:UnspecifiedMatching -OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:XCR1 semapv:UnspecifiedMatching -OMIM:600552 XCR1 skos:exactMatch ncbigene:2829 semapv:UnspecifiedMatching -OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:4515 semapv:UnspecifiedMatching -OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:GPR6 semapv:UnspecifiedMatching -OMIM:600553 GPR6 skos:exactMatch ncbigene:2830 semapv:UnspecifiedMatching -OMIM:600554 IL15 skos:exactMatch UMLS:C1334105 semapv:UnspecifiedMatching -OMIM:600554 IL15 skos:exactMatch hgnc.symbol:5977 semapv:UnspecifiedMatching -OMIM:600554 IL15 skos:exactMatch hgnc.symbol:IL15 semapv:UnspecifiedMatching -OMIM:600554 IL15 skos:exactMatch ncbigene:3600 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch UMLS:C1335872 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch UMLS:C3151088 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch UMLS:C4013950 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:11362 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:STAT1 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch ncbigene:6772 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch UMLS:C1335873 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch UMLS:C4225260 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:11363 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:STAT2 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch ncbigene:6773 semapv:UnspecifiedMatching -OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:11365 semapv:UnspecifiedMatching -OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:STAT4 semapv:UnspecifiedMatching -OMIM:600558 STAT4 skos:exactMatch ncbigene:6775 semapv:UnspecifiedMatching -OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:10840 semapv:UnspecifiedMatching -OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:SHC1 semapv:UnspecifiedMatching -OMIM:600560 SHC1 skos:exactMatch ncbigene:6464 semapv:UnspecifiedMatching -OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:1751 semapv:UnspecifiedMatching -OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:CDH12 semapv:UnspecifiedMatching -OMIM:600562 CDH12 skos:exactMatch ncbigene:1010 semapv:UnspecifiedMatching -OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:9600 semapv:UnspecifiedMatching -OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:PTGFR semapv:UnspecifiedMatching -OMIM:600563 PTGFR skos:exactMatch ncbigene:5737 semapv:UnspecifiedMatching -OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:6169 semapv:UnspecifiedMatching -OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:ITIH4 semapv:UnspecifiedMatching -OMIM:600564 ITIH4 skos:exactMatch ncbigene:3700 semapv:UnspecifiedMatching -OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:8008 semapv:UnspecifiedMatching -OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:NRXN1 semapv:UnspecifiedMatching -OMIM:600565 NRXN1 skos:exactMatch ncbigene:9378 semapv:UnspecifiedMatching -OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:8009 semapv:UnspecifiedMatching -OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:NRXN2 semapv:UnspecifiedMatching -OMIM:600566 NRXN2 skos:exactMatch ncbigene:9379 semapv:UnspecifiedMatching -OMIM:600567 NRXN3 skos:exactMatch UMLS:C1417853 semapv:UnspecifiedMatching -OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:8010 semapv:UnspecifiedMatching -OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:NRXN3 semapv:UnspecifiedMatching -OMIM:600567 NRXN3 skos:exactMatch ncbigene:9369 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch UMLS:C1422548 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:14291 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:NLGN1 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch ncbigene:22871 semapv:UnspecifiedMatching -OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:2020 semapv:UnspecifiedMatching -OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:CLCN2 semapv:UnspecifiedMatching -OMIM:600570 CLCN2 skos:exactMatch ncbigene:1181 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch UMLS:C1419346 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch UMLS:C3887929 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch UMLS:C4225584 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch UMLS:C4539942 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch hgnc.symbol:9966 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch hgnc.symbol:REST semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch ncbigene:5978 semapv:UnspecifiedMatching -OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:10789 semapv:UnspecifiedMatching -OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:SRSF7 semapv:UnspecifiedMatching -OMIM:600572 SRSF7 skos:exactMatch ncbigene:6432 semapv:UnspecifiedMatching -OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:11541 semapv:UnspecifiedMatching -OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:TAF7 semapv:UnspecifiedMatching -OMIM:600573 TAF7 skos:exactMatch ncbigene:6879 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch UMLS:C1416947 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch UMLS:C3810283 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch UMLS:C4225280 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:6742 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:LZTR1 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch ncbigene:8216 semapv:UnspecifiedMatching -OMIM:600575 TSN skos:exactMatch hgnc.symbol:12379 semapv:UnspecifiedMatching -OMIM:600575 TSN skos:exactMatch hgnc.symbol:TSN semapv:UnspecifiedMatching -OMIM:600575 TSN skos:exactMatch ncbigene:7247 semapv:UnspecifiedMatching -OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:4173 semapv:UnspecifiedMatching -OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:GATA4 semapv:UnspecifiedMatching -OMIM:600576 GATA4 skos:exactMatch ncbigene:2626 semapv:UnspecifiedMatching -OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:6595 semapv:UnspecifiedMatching -OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:LHX3 semapv:UnspecifiedMatching -OMIM:600577 LHX3 skos:exactMatch ncbigene:8022 semapv:UnspecifiedMatching -OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:8253 semapv:UnspecifiedMatching -OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:OR2H2 semapv:UnspecifiedMatching -OMIM:600578 OR2H3 skos:exactMatch ncbigene:7932 semapv:UnspecifiedMatching -OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:9678 semapv:UnspecifiedMatching -OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:PTPRO semapv:UnspecifiedMatching -OMIM:600579 PTPRO skos:exactMatch ncbigene:5800 semapv:UnspecifiedMatching -OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:2021 semapv:UnspecifiedMatching -OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:CLCN3 semapv:UnspecifiedMatching -OMIM:600580 CLCN3 skos:exactMatch ncbigene:1182 semapv:UnspecifiedMatching -OMIM:600581 ID4 skos:exactMatch hgnc.symbol:5363 semapv:UnspecifiedMatching -OMIM:600581 ID4 skos:exactMatch hgnc.symbol:ID4 semapv:UnspecifiedMatching -OMIM:600581 ID4 skos:exactMatch ncbigene:3400 semapv:UnspecifiedMatching -OMIM:600582 ASPH skos:exactMatch hgnc.symbol:757 semapv:UnspecifiedMatching -OMIM:600582 ASPH skos:exactMatch hgnc.symbol:ASPH semapv:UnspecifiedMatching -OMIM:600582 ASPH skos:exactMatch ncbigene:444 semapv:UnspecifiedMatching -OMIM:600583 TEC skos:exactMatch hgnc.symbol:11719 semapv:UnspecifiedMatching -OMIM:600583 TEC skos:exactMatch hgnc.symbol:TEC semapv:UnspecifiedMatching -OMIM:600583 TEC skos:exactMatch ncbigene:7006 semapv:UnspecifiedMatching -OMIM:600584 NKX2-5 skos:exactMatch hgnc.symbol:2488 semapv:UnspecifiedMatching -OMIM:600584 NKX2-5 skos:exactMatch hgnc.symbol:NKX2-5 semapv:UnspecifiedMatching -OMIM:600584 NKX2-5 skos:exactMatch ncbigene:1482 semapv:UnspecifiedMatching -OMIM:600585 TGM4 skos:exactMatch hgnc.symbol:11780 semapv:UnspecifiedMatching -OMIM:600585 TGM4 skos:exactMatch hgnc.symbol:TGM4 semapv:UnspecifiedMatching -OMIM:600585 TGM4 skos:exactMatch ncbigene:7047 semapv:UnspecifiedMatching -OMIM:600586 ECT2 skos:exactMatch hgnc.symbol:3155 semapv:UnspecifiedMatching -OMIM:600586 ECT2 skos:exactMatch hgnc.symbol:ECT2 semapv:UnspecifiedMatching -OMIM:600586 ECT2 skos:exactMatch ncbigene:1894 semapv:UnspecifiedMatching -OMIM:600587 POMZP3 skos:exactMatch hgnc.symbol:9203 semapv:UnspecifiedMatching -OMIM:600587 POMZP3 skos:exactMatch hgnc.symbol:POMZP3 semapv:UnspecifiedMatching -OMIM:600587 POMZP3 skos:exactMatch ncbigene:22932 semapv:UnspecifiedMatching -OMIM:600589 SRF skos:exactMatch hgnc.symbol:11291 semapv:UnspecifiedMatching -OMIM:600589 SRF skos:exactMatch hgnc.symbol:SRF semapv:UnspecifiedMatching -OMIM:600589 SRF skos:exactMatch ncbigene:6722 semapv:UnspecifiedMatching -OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:9282 semapv:UnspecifiedMatching -OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:PPP1CB semapv:UnspecifiedMatching -OMIM:600590 PPP1CB skos:exactMatch ncbigene:5500 semapv:UnspecifiedMatching -OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:11134 semapv:UnspecifiedMatching -OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:SNAPC1 semapv:UnspecifiedMatching -OMIM:600591 SNAPC1 skos:exactMatch ncbigene:6617 semapv:UnspecifiedMatching -OMIM:600592 MCM7 skos:exactMatch UMLS:C1334494 semapv:UnspecifiedMatching -OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:6950 semapv:UnspecifiedMatching -OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:MCM7 semapv:UnspecifiedMatching -OMIM:600592 MCM7 skos:exactMatch ncbigene:4176 semapv:UnspecifiedMatching -OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:2845 semapv:UnspecifiedMatching -OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:DGCR2 semapv:UnspecifiedMatching -OMIM:600594 DGCR2 skos:exactMatch ncbigene:9993 semapv:UnspecifiedMatching -OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:20606 semapv:UnspecifiedMatching -OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:IFT88 semapv:UnspecifiedMatching -OMIM:600595 IFT88 skos:exactMatch ncbigene:8100 semapv:UnspecifiedMatching -OMIM:600596 MFAP4 skos:exactMatch hgnc.symbol:7035 semapv:UnspecifiedMatching -OMIM:600596 MFAP4 skos:exactMatch hgnc.symbol:MFAP4 semapv:UnspecifiedMatching -OMIM:600596 MFAP4 skos:exactMatch ncbigene:4239 semapv:UnspecifiedMatching -OMIM:600597 PLCL1 skos:exactMatch hgnc.symbol:9063 semapv:UnspecifiedMatching -OMIM:600597 PLCL1 skos:exactMatch hgnc.symbol:PLCL1 semapv:UnspecifiedMatching -OMIM:600597 PLCL1 skos:exactMatch ncbigene:5334 semapv:UnspecifiedMatching -OMIM:600599 KLF1 skos:exactMatch hgnc.symbol:6345 semapv:UnspecifiedMatching -OMIM:600599 KLF1 skos:exactMatch hgnc.symbol:KLF1 semapv:UnspecifiedMatching -OMIM:600599 KLF1 skos:exactMatch ncbigene:10661 semapv:UnspecifiedMatching -OMIM:600600 EPHB1 skos:exactMatch hgnc.symbol:3392 semapv:UnspecifiedMatching -OMIM:600600 EPHB1 skos:exactMatch hgnc.symbol:EPHB1 semapv:UnspecifiedMatching -OMIM:600600 EPHB1 skos:exactMatch ncbigene:2047 semapv:UnspecifiedMatching -OMIM:600605 MTX1 skos:exactMatch hgnc.symbol:7504 semapv:UnspecifiedMatching -OMIM:600605 MTX1 skos:exactMatch hgnc.symbol:MTX1 semapv:UnspecifiedMatching -OMIM:600605 MTX1 skos:exactMatch ncbigene:4580 semapv:UnspecifiedMatching -OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:11644 semapv:UnspecifiedMatching -OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:VPS72 semapv:UnspecifiedMatching -OMIM:600607 VPS72 skos:exactMatch ncbigene:6944 semapv:UnspecifiedMatching -OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:8547 semapv:UnspecifiedMatching -OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:P4HA2 semapv:UnspecifiedMatching -OMIM:600608 P4HA2 skos:exactMatch ncbigene:8974 semapv:UnspecifiedMatching -OMIM:600609 GABPA skos:exactMatch hgnc.symbol:4071 semapv:UnspecifiedMatching -OMIM:600609 GABPA skos:exactMatch hgnc.symbol:GABPA semapv:UnspecifiedMatching -OMIM:600609 GABPA skos:exactMatch ncbigene:2551 semapv:UnspecifiedMatching -OMIM:600610 GABPB skos:exactMatch hgnc.symbol:4074 semapv:UnspecifiedMatching -OMIM:600610 GABPB skos:exactMatch hgnc.symbol:GABPB1 semapv:UnspecifiedMatching -OMIM:600610 GABPB skos:exactMatch ncbigene:2553 semapv:UnspecifiedMatching -OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:3720 semapv:UnspecifiedMatching -OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:FKBP4 semapv:UnspecifiedMatching -OMIM:600611 FKBP4 skos:exactMatch ncbigene:2288 semapv:UnspecifiedMatching -OMIM:600613 NBL1 skos:exactMatch hgnc.symbol:7650 semapv:UnspecifiedMatching -OMIM:600613 NBL1 skos:exactMatch hgnc.symbol:NBL1 semapv:UnspecifiedMatching -OMIM:600613 NBL1 skos:exactMatch ncbigene:4681 semapv:UnspecifiedMatching -OMIM:600614 S100P skos:exactMatch hgnc.symbol:10504 semapv:UnspecifiedMatching -OMIM:600614 S100P skos:exactMatch hgnc.symbol:S100P semapv:UnspecifiedMatching -OMIM:600614 S100P skos:exactMatch ncbigene:6286 semapv:UnspecifiedMatching -OMIM:600615 LGALS7 skos:exactMatch hgnc.symbol:6568 semapv:UnspecifiedMatching -OMIM:600615 LGALS7 skos:exactMatch hgnc.symbol:LGALS7 semapv:UnspecifiedMatching -OMIM:600615 LGALS7 skos:exactMatch ncbigene:3963 semapv:UnspecifiedMatching -OMIM:600616 LUM skos:exactMatch hgnc.symbol:6724 semapv:UnspecifiedMatching -OMIM:600616 LUM skos:exactMatch hgnc.symbol:LUM semapv:UnspecifiedMatching -OMIM:600616 LUM skos:exactMatch ncbigene:4060 semapv:UnspecifiedMatching -OMIM:600617 STAR skos:exactMatch hgnc.symbol:11359 semapv:UnspecifiedMatching -OMIM:600617 STAR skos:exactMatch hgnc.symbol:STAR semapv:UnspecifiedMatching -OMIM:600617 STAR skos:exactMatch ncbigene:6770 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch UMLS:C0796520 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch UMLS:C4015537 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:3495 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:ETV6 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch ncbigene:2120 semapv:UnspecifiedMatching -OMIM:600620 FKBP1B skos:exactMatch UMLS:C1414619 semapv:UnspecifiedMatching -OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:3712 semapv:UnspecifiedMatching -OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:FKBP1B semapv:UnspecifiedMatching -OMIM:600620 FKBP1B skos:exactMatch ncbigene:2281 semapv:UnspecifiedMatching -OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:10577 semapv:UnspecifiedMatching -OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:STMN2 semapv:UnspecifiedMatching -OMIM:600621 STMN2 skos:exactMatch ncbigene:11075 semapv:UnspecifiedMatching -OMIM:600623 CD82 skos:exactMatch hgnc.symbol:6210 semapv:UnspecifiedMatching -OMIM:600623 CD82 skos:exactMatch hgnc.symbol:CD82 semapv:UnspecifiedMatching -OMIM:600623 CD82 skos:exactMatch ncbigene:3732 semapv:UnspecifiedMatching -OMIM:600625 orofacial cleft 11 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C1833563 semapv:UnspecifiedMatching -OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C2677434 semapv:UnspecifiedMatching -OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:6564 semapv:UnspecifiedMatching -OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:LGALS3BP semapv:UnspecifiedMatching -OMIM:600626 LGALS3BP skos:exactMatch ncbigene:3959 semapv:UnspecifiedMatching -OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:4937 semapv:UnspecifiedMatching -OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:HLA-DOB semapv:UnspecifiedMatching -OMIM:600629 HLA-DOB skos:exactMatch ncbigene:3112 semapv:UnspecifiedMatching -OMIM:600632 OPCML skos:exactMatch hgnc.symbol:8143 semapv:UnspecifiedMatching -OMIM:600632 OPCML skos:exactMatch hgnc.symbol:OPCML semapv:UnspecifiedMatching -OMIM:600632 OPCML skos:exactMatch ncbigene:4978 semapv:UnspecifiedMatching -OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:11757 semapv:UnspecifiedMatching -OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:TFF3 semapv:UnspecifiedMatching -OMIM:600633 TFF3 skos:exactMatch ncbigene:7033 semapv:UnspecifiedMatching -OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:11825 semapv:UnspecifiedMatching -OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:NKX2-1 semapv:UnspecifiedMatching -OMIM:600635 NKX2-1 skos:exactMatch ncbigene:7080 semapv:UnspecifiedMatching -OMIM:600636 CASP3 skos:exactMatch UMLS:C1413132 semapv:UnspecifiedMatching -OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:1504 semapv:UnspecifiedMatching -OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:CASP3 semapv:UnspecifiedMatching -OMIM:600636 CASP3 skos:exactMatch ncbigene:836 semapv:UnspecifiedMatching -OMIM:600637 SLC1A6 skos:exactMatch hgnc.symbol:10944 semapv:UnspecifiedMatching -OMIM:600637 SLC1A6 skos:exactMatch hgnc.symbol:SLC1A6 semapv:UnspecifiedMatching -OMIM:600637 SLC1A6 skos:exactMatch ncbigene:6511 semapv:UnspecifiedMatching -OMIM:600639 CASP2 skos:exactMatch hgnc.symbol:1503 semapv:UnspecifiedMatching -OMIM:600639 CASP2 skos:exactMatch hgnc.symbol:CASP2 semapv:UnspecifiedMatching -OMIM:600639 CASP2 skos:exactMatch ncbigene:835 semapv:UnspecifiedMatching -OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:11455 semapv:UnspecifiedMatching -OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:SULT1A3 semapv:UnspecifiedMatching -OMIM:600641 SULT1A3 skos:exactMatch ncbigene:6818 semapv:UnspecifiedMatching -OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:13880 semapv:UnspecifiedMatching -OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:MYO1G semapv:UnspecifiedMatching -OMIM:600642 MYO1G skos:exactMatch ncbigene:64005 semapv:UnspecifiedMatching -OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:9706 semapv:UnspecifiedMatching -OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:NECTIN1 semapv:UnspecifiedMatching -OMIM:600644 NECTIN1 skos:exactMatch ncbigene:5818 semapv:UnspecifiedMatching -OMIM:600646 PROCR skos:exactMatch hgnc.symbol:9452 semapv:UnspecifiedMatching -OMIM:600646 PROCR skos:exactMatch hgnc.symbol:PROCR semapv:UnspecifiedMatching -OMIM:600646 PROCR skos:exactMatch ncbigene:10544 semapv:UnspecifiedMatching -OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:5018 semapv:UnspecifiedMatching -OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:HMX2 semapv:UnspecifiedMatching -OMIM:600647 HMX2 skos:exactMatch ncbigene:3167 semapv:UnspecifiedMatching -OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:2330 semapv:UnspecifiedMatching -OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:CPT2 semapv:UnspecifiedMatching -OMIM:600650 CPT2 skos:exactMatch ncbigene:1376 semapv:UnspecifiedMatching -OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:9568 semapv:UnspecifiedMatching -OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:PSME1 semapv:UnspecifiedMatching -OMIM:600654 PSME1 skos:exactMatch ncbigene:5720 semapv:UnspecifiedMatching -OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:3208 semapv:UnspecifiedMatching -OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:EEF1B2 semapv:UnspecifiedMatching -OMIM:600655 EEF1B2 skos:exactMatch ncbigene:1933 semapv:UnspecifiedMatching -OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:9322 semapv:UnspecifiedMatching -OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:PPP5C semapv:UnspecifiedMatching -OMIM:600658 PPP5C skos:exactMatch ncbigene:5536 semapv:UnspecifiedMatching -OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:3118 semapv:UnspecifiedMatching -OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:E2F4 semapv:UnspecifiedMatching -OMIM:600659 E2F4 skos:exactMatch ncbigene:1874 semapv:UnspecifiedMatching -OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:6993 semapv:UnspecifiedMatching -OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:MEF2A semapv:UnspecifiedMatching -OMIM:600660 MEF2A skos:exactMatch ncbigene:4205 semapv:UnspecifiedMatching -OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:6995 semapv:UnspecifiedMatching -OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:MEF2B semapv:UnspecifiedMatching -OMIM:600661 MEF2B skos:exactMatch ncbigene:100271849 semapv:UnspecifiedMatching -OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:6996 semapv:UnspecifiedMatching -OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:MEF2C semapv:UnspecifiedMatching -OMIM:600662 MEF2C skos:exactMatch ncbigene:4208 semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch UMLS:C1417103 semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:6997 semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:MEF2D semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch ncbigene:4209 semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch UMLS:C1413419 semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch hgnc.symbol:1974 semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch hgnc.symbol:CHUK semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch ncbigene:1147 semapv:UnspecifiedMatching -OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:7463 semapv:UnspecifiedMatching -OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:MTNR1A semapv:UnspecifiedMatching -OMIM:600665 MTNR1A skos:exactMatch ncbigene:4543 semapv:UnspecifiedMatching -OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:4040 semapv:UnspecifiedMatching -OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:FZD2 semapv:UnspecifiedMatching -OMIM:600667 FZD2 skos:exactMatch ncbigene:2535 semapv:UnspecifiedMatching -OMIM:600668 chondrocalcinosis 1 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching -OMIM:600668 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching -OMIM:600673 UBTF skos:exactMatch hgnc.symbol:12511 semapv:UnspecifiedMatching -OMIM:600673 UBTF skos:exactMatch hgnc.symbol:UBTF semapv:UnspecifiedMatching -OMIM:600673 UBTF skos:exactMatch ncbigene:7343 semapv:UnspecifiedMatching -OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:12830 semapv:UnspecifiedMatching -OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:XRCC3 semapv:UnspecifiedMatching -OMIM:600675 XRCC3 skos:exactMatch ncbigene:7517 semapv:UnspecifiedMatching -OMIM:600676 CATR1 skos:exactMatch hgnc.symbol:1525 semapv:UnspecifiedMatching -OMIM:600676 CATR1 skos:exactMatch hgnc.symbol:CATR1 semapv:UnspecifiedMatching -OMIM:600676 CATR1 skos:exactMatch ncbigene:856 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch UMLS:C0879393 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch UMLS:C1833477 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:7329 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:MSH6 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch ncbigene:2956 semapv:UnspecifiedMatching -OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:6263 semapv:UnspecifiedMatching -OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:KCNJ2 semapv:UnspecifiedMatching -OMIM:600681 KCNJ2 skos:exactMatch ncbigene:3759 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1420102 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1855577 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016683 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016684 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:10922 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:SLC16A1 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch ncbigene:6566 semapv:UnspecifiedMatching -OMIM:600684 LY9 skos:exactMatch hgnc.symbol:6730 semapv:UnspecifiedMatching -OMIM:600684 LY9 skos:exactMatch hgnc.symbol:LY9 semapv:UnspecifiedMatching -OMIM:600684 LY9 skos:exactMatch ncbigene:4063 semapv:UnspecifiedMatching -OMIM:600685 KPNA2 skos:exactMatch UMLS:C1416700 semapv:UnspecifiedMatching -OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:6395 semapv:UnspecifiedMatching -OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:KPNA2 semapv:UnspecifiedMatching -OMIM:600685 KPNA2 skos:exactMatch ncbigene:3838 semapv:UnspecifiedMatching -OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:6394 semapv:UnspecifiedMatching -OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:KPNA1 semapv:UnspecifiedMatching -OMIM:600686 KPNA1 skos:exactMatch ncbigene:3836 semapv:UnspecifiedMatching -OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:11805 semapv:UnspecifiedMatching -OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:TIAM1 semapv:UnspecifiedMatching -OMIM:600687 TIAM1 skos:exactMatch ncbigene:7074 semapv:UnspecifiedMatching -OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:2297 semapv:UnspecifiedMatching -OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:CPA2 semapv:UnspecifiedMatching -OMIM:600688 CPA2 skos:exactMatch ncbigene:1358 semapv:UnspecifiedMatching -OMIM:600690 TCTA skos:exactMatch hgnc.symbol:11692 semapv:UnspecifiedMatching -OMIM:600690 TCTA skos:exactMatch hgnc.symbol:TCTA semapv:UnspecifiedMatching -OMIM:600690 TCTA skos:exactMatch ncbigene:6988 semapv:UnspecifiedMatching -OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:10995 semapv:UnspecifiedMatching -OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:SLC27A1 semapv:UnspecifiedMatching -OMIM:600691 SLC27A1 skos:exactMatch ncbigene:376497 semapv:UnspecifiedMatching -OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:11950 semapv:UnspecifiedMatching -OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:TNNT3 semapv:UnspecifiedMatching -OMIM:600692 TNNT3 skos:exactMatch ncbigene:7140 semapv:UnspecifiedMatching -OMIM:600693 PTBP1 skos:exactMatch UMLS:C1419054 semapv:UnspecifiedMatching -OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:9583 semapv:UnspecifiedMatching -OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:PTBP1 semapv:UnspecifiedMatching -OMIM:600693 PTBP1 skos:exactMatch ncbigene:5725 semapv:UnspecifiedMatching -OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:6021 semapv:UnspecifiedMatching -OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:IL6ST semapv:UnspecifiedMatching -OMIM:600694 IL6ST skos:exactMatch ncbigene:3572 semapv:UnspecifiedMatching -OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:3149 semapv:UnspecifiedMatching -OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:ECH1 semapv:UnspecifiedMatching -OMIM:600696 ECH1 skos:exactMatch ncbigene:1891 semapv:UnspecifiedMatching -OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:9888 semapv:UnspecifiedMatching -OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:RBBP5 semapv:UnspecifiedMatching -OMIM:600697 RBBP5 skos:exactMatch ncbigene:5929 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch UMLS:C1333906 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:5009 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:HMGA2 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch ncbigene:8091 semapv:UnspecifiedMatching -OMIM:600700 LPP skos:exactMatch hgnc.symbol:6679 semapv:UnspecifiedMatching -OMIM:600700 LPP skos:exactMatch hgnc.symbol:LPP semapv:UnspecifiedMatching -OMIM:600700 LPP skos:exactMatch ncbigene:4026 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch UMLS:C1333903 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:5010 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:HMGA1 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch ncbigene:3159 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C1419866 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C3280415 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch UMLS:C5193184 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:10596 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:SCN8A semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch ncbigene:6334 semapv:UnspecifiedMatching -OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:11304 semapv:UnspecifiedMatching -OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:SRP9 semapv:UnspecifiedMatching -OMIM:600707 SRP9 skos:exactMatch ncbigene:6726 semapv:UnspecifiedMatching -OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:11299 semapv:UnspecifiedMatching -OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:SRP14 semapv:UnspecifiedMatching -OMIM:600708 SRP14 skos:exactMatch ncbigene:6727 semapv:UnspecifiedMatching -OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:5330 semapv:UnspecifiedMatching -OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:IARS1 semapv:UnspecifiedMatching -OMIM:600709 IARS1 skos:exactMatch ncbigene:3376 semapv:UnspecifiedMatching -OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:3493 semapv:UnspecifiedMatching -OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:ETV4 semapv:UnspecifiedMatching -OMIM:600711 ETV4 skos:exactMatch ncbigene:2118 semapv:UnspecifiedMatching -OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:5044 semapv:UnspecifiedMatching -OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:HNRNPK semapv:UnspecifiedMatching -OMIM:600712 HNRNPK skos:exactMatch ncbigene:3190 semapv:UnspecifiedMatching -OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:5208 semapv:UnspecifiedMatching -OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:HSD11B1 semapv:UnspecifiedMatching -OMIM:600713 HSD11B1 skos:exactMatch ncbigene:3290 semapv:UnspecifiedMatching -OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:3064 semapv:UnspecifiedMatching -OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:DUSP1 semapv:UnspecifiedMatching -OMIM:600714 DUSP1 skos:exactMatch ncbigene:1843 semapv:UnspecifiedMatching -OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:11788 semapv:UnspecifiedMatching -OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:THBS4 semapv:UnspecifiedMatching -OMIM:600715 THBS4 skos:exactMatch ncbigene:7060 semapv:UnspecifiedMatching -OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:9652 semapv:UnspecifiedMatching -OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:PTPN22 semapv:UnspecifiedMatching -OMIM:600716 PTPN22 skos:exactMatch ncbigene:26191 semapv:UnspecifiedMatching -OMIM:600719 NOS2B skos:exactMatch UMLS:C1417761 semapv:UnspecifiedMatching -OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:7874 semapv:UnspecifiedMatching -OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:NOS2P2 semapv:UnspecifiedMatching -OMIM:600719 NOS2B skos:exactMatch ncbigene:201288 semapv:UnspecifiedMatching -OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch UMLS:C1417762 semapv:UnspecifiedMatching -OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:7875 semapv:UnspecifiedMatching -OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:NOS2P1 semapv:UnspecifiedMatching -OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:9325 semapv:UnspecifiedMatching -OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:PPT1 semapv:UnspecifiedMatching -OMIM:600722 PPT1 skos:exactMatch ncbigene:5538 semapv:UnspecifiedMatching -OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:7220 semapv:UnspecifiedMatching -OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:MPP2 semapv:UnspecifiedMatching -OMIM:600723 MPP2 skos:exactMatch ncbigene:4355 semapv:UnspecifiedMatching -OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:2151 semapv:UnspecifiedMatching -OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:CNGB1 semapv:UnspecifiedMatching -OMIM:600724 CNGB1 skos:exactMatch ncbigene:1258 semapv:UnspecifiedMatching -OMIM:600725 SHH skos:exactMatch hgnc.symbol:10848 semapv:UnspecifiedMatching -OMIM:600725 SHH skos:exactMatch hgnc.symbol:SHH semapv:UnspecifiedMatching -OMIM:600725 SHH skos:exactMatch ncbigene:6469 semapv:UnspecifiedMatching -OMIM:600726 IHH skos:exactMatch hgnc.symbol:5956 semapv:UnspecifiedMatching -OMIM:600726 IHH skos:exactMatch hgnc.symbol:IHH semapv:UnspecifiedMatching -OMIM:600726 IHH skos:exactMatch ncbigene:3549 semapv:UnspecifiedMatching -OMIM:600727 NFIA skos:exactMatch hgnc.symbol:7784 semapv:UnspecifiedMatching -OMIM:600727 NFIA skos:exactMatch hgnc.symbol:NFIA semapv:UnspecifiedMatching -OMIM:600727 NFIA skos:exactMatch ncbigene:4774 semapv:UnspecifiedMatching -OMIM:600728 NFIB skos:exactMatch hgnc.symbol:7785 semapv:UnspecifiedMatching -OMIM:600728 NFIB skos:exactMatch hgnc.symbol:NFIB semapv:UnspecifiedMatching -OMIM:600728 NFIB skos:exactMatch ncbigene:4781 semapv:UnspecifiedMatching -OMIM:600729 NFIC skos:exactMatch hgnc.symbol:7786 semapv:UnspecifiedMatching -OMIM:600729 NFIC skos:exactMatch hgnc.symbol:NFIC semapv:UnspecifiedMatching -OMIM:600729 NFIC skos:exactMatch ncbigene:4782 semapv:UnspecifiedMatching -OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:4522 semapv:UnspecifiedMatching -OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:NPBWR1 semapv:UnspecifiedMatching -OMIM:600730 NPBWR1 skos:exactMatch ncbigene:2831 semapv:UnspecifiedMatching -OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:4530 semapv:UnspecifiedMatching -OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:NPBWR2 semapv:UnspecifiedMatching -OMIM:600731 GPR8 skos:exactMatch ncbigene:2832 semapv:UnspecifiedMatching -OMIM:600732 ARL4D skos:exactMatch UMLS:C1824202 semapv:UnspecifiedMatching -OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:656 semapv:UnspecifiedMatching -OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:ARL4D semapv:UnspecifiedMatching -OMIM:600732 ARL4D skos:exactMatch ncbigene:379 semapv:UnspecifiedMatching -OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:6107 semapv:UnspecifiedMatching -OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:PDX1 semapv:UnspecifiedMatching -OMIM:600733 PDX1 skos:exactMatch ncbigene:3651 semapv:UnspecifiedMatching -OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:6266 semapv:UnspecifiedMatching -OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:KCNJ5 semapv:UnspecifiedMatching -OMIM:600734 KCNJ5 skos:exactMatch ncbigene:3762 semapv:UnspecifiedMatching -OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:5399 semapv:UnspecifiedMatching -OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:IFI35 semapv:UnspecifiedMatching -OMIM:600735 IFI35 skos:exactMatch ncbigene:3430 semapv:UnspecifiedMatching -OMIM:600738 SELPLG skos:exactMatch UMLS:C1419941 semapv:UnspecifiedMatching -OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:10722 semapv:UnspecifiedMatching -OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:SELPLG semapv:UnspecifiedMatching -OMIM:600738 SELPLG skos:exactMatch ncbigene:6404 semapv:UnspecifiedMatching -OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:10842 semapv:UnspecifiedMatching -OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:SHC1P2 semapv:UnspecifiedMatching -OMIM:600739 SHCL1 skos:exactMatch ncbigene:6466 semapv:UnspecifiedMatching -OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:11774 semapv:UnspecifiedMatching -OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:TGFBR3 semapv:UnspecifiedMatching -OMIM:600742 TGFBR3 skos:exactMatch ncbigene:7049 semapv:UnspecifiedMatching -OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:11745 semapv:UnspecifiedMatching -OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:TFAP4 semapv:UnspecifiedMatching -OMIM:600743 TFAP4 skos:exactMatch ncbigene:7023 semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch UMLS:C1420699 semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch hgnc.symbol:11753 semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch hgnc.symbol:TFEB semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch ncbigene:7942 semapv:UnspecifiedMatching -OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:611 semapv:UnspecifiedMatching -OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:APOC4 semapv:UnspecifiedMatching -OMIM:600745 APOC4 skos:exactMatch ncbigene:346 semapv:UnspecifiedMatching -OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:1805 semapv:UnspecifiedMatching -OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:CDX1 semapv:UnspecifiedMatching -OMIM:600746 CDX1 skos:exactMatch ncbigene:1044 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch UMLS:C1420608 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch UMLS:C4748741 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:11597 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:TBX2 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch ncbigene:6909 semapv:UnspecifiedMatching -OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:11723 semapv:UnspecifiedMatching -OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:TMBIM6 semapv:UnspecifiedMatching -OMIM:600748 TMBIM6 skos:exactMatch ncbigene:7009 semapv:UnspecifiedMatching -OMIM:600749 CEBPE skos:exactMatch hgnc.symbol:1836 semapv:UnspecifiedMatching -OMIM:600749 CEBPE skos:exactMatch hgnc.symbol:CEBPE semapv:UnspecifiedMatching -OMIM:600749 CEBPE skos:exactMatch ncbigene:1053 semapv:UnspecifiedMatching -OMIM:600750 NPTX2 skos:exactMatch hgnc.symbol:7953 semapv:UnspecifiedMatching -OMIM:600750 NPTX2 skos:exactMatch hgnc.symbol:NPTX2 semapv:UnspecifiedMatching -OMIM:600750 NPTX2 skos:exactMatch ncbigene:4885 semapv:UnspecifiedMatching -OMIM:600751 SIGLEC1 skos:exactMatch hgnc.symbol:11127 semapv:UnspecifiedMatching -OMIM:600751 SIGLEC1 skos:exactMatch hgnc.symbol:SIGLEC1 semapv:UnspecifiedMatching -OMIM:600751 SIGLEC1 skos:exactMatch ncbigene:6614 semapv:UnspecifiedMatching -OMIM:600752 GPR12 skos:exactMatch hgnc.symbol:4466 semapv:UnspecifiedMatching -OMIM:600752 GPR12 skos:exactMatch hgnc.symbol:GPR12 semapv:UnspecifiedMatching -OMIM:600752 GPR12 skos:exactMatch ncbigene:2835 semapv:UnspecifiedMatching -OMIM:600753 GLG1 skos:exactMatch hgnc.symbol:4316 semapv:UnspecifiedMatching -OMIM:600753 GLG1 skos:exactMatch hgnc.symbol:GLG1 semapv:UnspecifiedMatching -OMIM:600753 GLG1 skos:exactMatch ncbigene:2734 semapv:UnspecifiedMatching -OMIM:600754 MMP14 skos:exactMatch hgnc.symbol:7160 semapv:UnspecifiedMatching -OMIM:600754 MMP14 skos:exactMatch hgnc.symbol:MMP14 semapv:UnspecifiedMatching -OMIM:600754 MMP14 skos:exactMatch ncbigene:4323 semapv:UnspecifiedMatching -OMIM:600755 SYN2 skos:exactMatch hgnc.symbol:11495 semapv:UnspecifiedMatching -OMIM:600755 SYN2 skos:exactMatch hgnc.symbol:SYN2 semapv:UnspecifiedMatching -OMIM:600755 SYN2 skos:exactMatch ncbigene:6854 semapv:UnspecifiedMatching -OMIM:600756 PTPA skos:exactMatch hgnc.symbol:9308 semapv:UnspecifiedMatching -OMIM:600756 PTPA skos:exactMatch hgnc.symbol:PTPA semapv:UnspecifiedMatching -OMIM:600756 PTPA skos:exactMatch ncbigene:5524 semapv:UnspecifiedMatching -OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:9611 semapv:UnspecifiedMatching -OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:PTK2 semapv:UnspecifiedMatching -OMIM:600758 PTK2 skos:exactMatch ncbigene:5747 semapv:UnspecifiedMatching -OMIM:600759 PSEN2 skos:exactMatch hgnc.symbol:9509 semapv:UnspecifiedMatching -OMIM:600759 PSEN2 skos:exactMatch hgnc.symbol:PSEN2 semapv:UnspecifiedMatching -OMIM:600759 PSEN2 skos:exactMatch ncbigene:5664 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch UMLS:C0221043 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch UMLS:C1419869 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch UMLS:C2749757 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:10600 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:SCNN1B semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch ncbigene:6338 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch UMLS:C1419871 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch UMLS:C2751324 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:10602 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:SCNN1G semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch ncbigene:6340 semapv:UnspecifiedMatching -OMIM:600762 human papillomavirus e5 central sequence-like 1 skos:exactMatch UMLS:C1415711 semapv:UnspecifiedMatching -OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:12022 semapv:UnspecifiedMatching -OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:TPT1 semapv:UnspecifiedMatching -OMIM:600763 TPT1 skos:exactMatch ncbigene:7178 semapv:UnspecifiedMatching -OMIM:600764 MR1 skos:exactMatch UMLS:C1415592 semapv:UnspecifiedMatching -OMIM:600764 MR1 skos:exactMatch hgnc.symbol:4975 semapv:UnspecifiedMatching -OMIM:600764 MR1 skos:exactMatch hgnc.symbol:MR1 semapv:UnspecifiedMatching -OMIM:600764 MR1 skos:exactMatch ncbigene:3140 semapv:UnspecifiedMatching -OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:4227 semapv:UnspecifiedMatching -OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:GDI2 semapv:UnspecifiedMatching -OMIM:600767 GDI2 skos:exactMatch ncbigene:2665 semapv:UnspecifiedMatching -OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:9661 semapv:UnspecifiedMatching -OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:PTPN9 semapv:UnspecifiedMatching -OMIM:600768 PTPN9 skos:exactMatch ncbigene:5780 semapv:UnspecifiedMatching -OMIM:600769 TSPAN8 skos:exactMatch UMLS:C1540088 semapv:UnspecifiedMatching -OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:11855 semapv:UnspecifiedMatching -OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:TSPAN8 semapv:UnspecifiedMatching -OMIM:600769 TSPAN8 skos:exactMatch ncbigene:7103 semapv:UnspecifiedMatching -OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:7516 semapv:UnspecifiedMatching -OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:MUC5B semapv:UnspecifiedMatching -OMIM:600770 MUC5B skos:exactMatch ncbigene:727897 semapv:UnspecifiedMatching -OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:11544 semapv:UnspecifiedMatching -OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:TAF11 semapv:UnspecifiedMatching -OMIM:600772 TAF11 skos:exactMatch ncbigene:6882 semapv:UnspecifiedMatching -OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:11545 semapv:UnspecifiedMatching -OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:TAF12 semapv:UnspecifiedMatching -OMIM:600773 TAF12 skos:exactMatch ncbigene:6883 semapv:UnspecifiedMatching -OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:11546 semapv:UnspecifiedMatching -OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:TAF13 semapv:UnspecifiedMatching -OMIM:600774 TAF13 skos:exactMatch ncbigene:6884 semapv:UnspecifiedMatching -OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:12397 semapv:UnspecifiedMatching -OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:TTF1 semapv:UnspecifiedMatching -OMIM:600777 TTF1 skos:exactMatch ncbigene:7270 semapv:UnspecifiedMatching -OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:1785 semapv:UnspecifiedMatching -OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:CDKN1B semapv:UnspecifiedMatching -OMIM:600778 CDKN1B skos:exactMatch ncbigene:1027 semapv:UnspecifiedMatching -OMIM:600781 PYY skos:exactMatch hgnc.symbol:9748 semapv:UnspecifiedMatching -OMIM:600781 PYY skos:exactMatch hgnc.symbol:PYY semapv:UnspecifiedMatching -OMIM:600781 PYY skos:exactMatch ncbigene:5697 semapv:UnspecifiedMatching -OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:11513 semapv:UnspecifiedMatching -OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:SYT5 semapv:UnspecifiedMatching -OMIM:600782 SYT5 skos:exactMatch ncbigene:6861 semapv:UnspecifiedMatching -OMIM:600783 HARS2 skos:exactMatch UMLS:C1415474 semapv:UnspecifiedMatching -OMIM:600783 HARS2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching -OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:4817 semapv:UnspecifiedMatching -OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:HARS2 semapv:UnspecifiedMatching -OMIM:600783 HARS2 skos:exactMatch ncbigene:23438 semapv:UnspecifiedMatching -OMIM:600784 GZMK skos:exactMatch hgnc.symbol:4711 semapv:UnspecifiedMatching -OMIM:600784 GZMK skos:exactMatch hgnc.symbol:GZMK semapv:UnspecifiedMatching -OMIM:600784 GZMK skos:exactMatch ncbigene:3003 semapv:UnspecifiedMatching -OMIM:600786 ELOA skos:exactMatch hgnc.symbol:11620 semapv:UnspecifiedMatching -OMIM:600786 ELOA skos:exactMatch hgnc.symbol:ELOA semapv:UnspecifiedMatching -OMIM:600786 ELOA skos:exactMatch ncbigene:6924 semapv:UnspecifiedMatching -OMIM:600787 ELOB skos:exactMatch hgnc.symbol:11619 semapv:UnspecifiedMatching -OMIM:600787 ELOB skos:exactMatch hgnc.symbol:ELOB semapv:UnspecifiedMatching -OMIM:600787 ELOB skos:exactMatch ncbigene:6923 semapv:UnspecifiedMatching -OMIM:600788 ELOC skos:exactMatch hgnc.symbol:11617 semapv:UnspecifiedMatching -OMIM:600788 ELOC skos:exactMatch hgnc.symbol:ELOC semapv:UnspecifiedMatching -OMIM:600788 ELOC skos:exactMatch ncbigene:6921 semapv:UnspecifiedMatching -OMIM:600789 RPL23L skos:exactMatch hgnc.symbol:10322 semapv:UnspecifiedMatching -OMIM:600789 RPL23L skos:exactMatch hgnc.symbol:MRPL23 semapv:UnspecifiedMatching -OMIM:600789 RPL23L skos:exactMatch ncbigene:6150 semapv:UnspecifiedMatching -OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching -OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C1833308 semapv:UnspecifiedMatching -OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching -OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:10766 semapv:UnspecifiedMatching -OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:SF3A2 semapv:UnspecifiedMatching -OMIM:600796 SF3A2 skos:exactMatch ncbigene:8175 semapv:UnspecifiedMatching -OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:6126 semapv:UnspecifiedMatching -OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:IRS2 semapv:UnspecifiedMatching -OMIM:600797 IRS2 skos:exactMatch ncbigene:8660 semapv:UnspecifiedMatching -OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:9707 semapv:UnspecifiedMatching -OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:NECTIN2 semapv:UnspecifiedMatching -OMIM:600798 NECTIN2 skos:exactMatch ncbigene:5819 semapv:UnspecifiedMatching -OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:1078 semapv:UnspecifiedMatching -OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:BMPR2 semapv:UnspecifiedMatching -OMIM:600799 BMPR2 skos:exactMatch ncbigene:659 semapv:UnspecifiedMatching -OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:7626 semapv:UnspecifiedMatching -OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:NAB1 semapv:UnspecifiedMatching -OMIM:600800 NAB1 skos:exactMatch ncbigene:4664 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch UMLS:C1442506 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:7464 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:MTNR1B semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch ncbigene:4544 semapv:UnspecifiedMatching -OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:6483 semapv:UnspecifiedMatching -OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:LAMA3 semapv:UnspecifiedMatching -OMIM:600805 LAMA3 skos:exactMatch ncbigene:3909 semapv:UnspecifiedMatching -OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:2155 semapv:UnspecifiedMatching -OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:CNN1 semapv:UnspecifiedMatching -OMIM:600806 CNN1 skos:exactMatch ncbigene:1264 semapv:UnspecifiedMatching -OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:9059 semapv:UnspecifiedMatching -OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:PLCB4 semapv:UnspecifiedMatching -OMIM:600810 PLCB4 skos:exactMatch ncbigene:5332 semapv:UnspecifiedMatching -OMIM:600811 DDB2 skos:exactMatch hgnc.symbol:2718 semapv:UnspecifiedMatching -OMIM:600811 DDB2 skos:exactMatch hgnc.symbol:DDB2 semapv:UnspecifiedMatching -OMIM:600811 DDB2 skos:exactMatch ncbigene:1643 semapv:UnspecifiedMatching -OMIM:600812 SRSF1 skos:exactMatch UMLS:C1419989 semapv:UnspecifiedMatching -OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:10780 semapv:UnspecifiedMatching -OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:SRSF1 semapv:UnspecifiedMatching -OMIM:600812 SRSF1 skos:exactMatch ncbigene:6426 semapv:UnspecifiedMatching -OMIM:600813 SRSF2 skos:exactMatch UMLS:C1419992 semapv:UnspecifiedMatching -OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:10783 semapv:UnspecifiedMatching -OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:SRSF2 semapv:UnspecifiedMatching -OMIM:600813 SRSF2 skos:exactMatch ncbigene:6427 semapv:UnspecifiedMatching -OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:7230 semapv:UnspecifiedMatching -OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:MRE11 semapv:UnspecifiedMatching -OMIM:600814 MRE11 skos:exactMatch ncbigene:4361 semapv:UnspecifiedMatching -OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:9176 semapv:UnspecifiedMatching -OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:POLD2 semapv:UnspecifiedMatching -OMIM:600815 POLD2 skos:exactMatch ncbigene:5425 semapv:UnspecifiedMatching -OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:5241 semapv:UnspecifiedMatching -OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:HSPA8 semapv:UnspecifiedMatching -OMIM:600816 HSPA8 skos:exactMatch ncbigene:3312 semapv:UnspecifiedMatching -OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:12722 semapv:UnspecifiedMatching -OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:VSNL1 semapv:UnspecifiedMatching -OMIM:600817 VSNL1 skos:exactMatch ncbigene:7447 semapv:UnspecifiedMatching -OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:11553 semapv:UnspecifiedMatching -OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:TAGLN semapv:UnspecifiedMatching -OMIM:600818 TAGLN skos:exactMatch ncbigene:6876 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch UMLS:C1414872 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:4023 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:FXR1 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch ncbigene:8087 semapv:UnspecifiedMatching -OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:649 semapv:UnspecifiedMatching -OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:ARCN1 semapv:UnspecifiedMatching -OMIM:600820 ARCN1 skos:exactMatch ncbigene:372 semapv:UnspecifiedMatching -OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:895 semapv:UnspecifiedMatching -OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:AVPR1A semapv:UnspecifiedMatching -OMIM:600821 AVPR1A skos:exactMatch ncbigene:552 semapv:UnspecifiedMatching -OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:11542 semapv:UnspecifiedMatching -OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:TAF9 semapv:UnspecifiedMatching -OMIM:600822 TAF9 skos:exactMatch ncbigene:6880 semapv:UnspecifiedMatching -OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:9491 semapv:UnspecifiedMatching -OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:PRSS8 semapv:UnspecifiedMatching -OMIM:600823 PRSS8 skos:exactMatch ncbigene:5652 semapv:UnspecifiedMatching -OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:2472 semapv:UnspecifiedMatching -OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:CSRP3 semapv:UnspecifiedMatching -OMIM:600824 CSRP3 skos:exactMatch ncbigene:8048 semapv:UnspecifiedMatching -OMIM:600825 RORA skos:exactMatch hgnc.symbol:10258 semapv:UnspecifiedMatching -OMIM:600825 RORA skos:exactMatch hgnc.symbol:RORA semapv:UnspecifiedMatching -OMIM:600825 RORA skos:exactMatch ncbigene:6095 semapv:UnspecifiedMatching -OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:2465 semapv:UnspecifiedMatching -OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:NCAN semapv:UnspecifiedMatching -OMIM:600826 CSPG3 skos:exactMatch ncbigene:1463 semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch UMLS:C1418427 semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch UMLS:C2751308 semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch UMLS:C2751309 semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:8787 semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:PDE6C semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch ncbigene:5146 semapv:UnspecifiedMatching -OMIM:600828 ATP5PO skos:exactMatch UMLS:C1412671 semapv:UnspecifiedMatching -OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:850 semapv:UnspecifiedMatching -OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:ATP5PO semapv:UnspecifiedMatching -OMIM:600828 ATP5PO skos:exactMatch ncbigene:539 semapv:UnspecifiedMatching -OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:6080 semapv:UnspecifiedMatching -OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:INPPL1 semapv:UnspecifiedMatching -OMIM:600829 INPPL1 skos:exactMatch ncbigene:3636 semapv:UnspecifiedMatching -OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:12962 semapv:UnspecifiedMatching -OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:TRIM26 semapv:UnspecifiedMatching -OMIM:600830 TRIM26 skos:exactMatch ncbigene:7726 semapv:UnspecifiedMatching -OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:2674 semapv:UnspecifiedMatching -OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:DAPK1 semapv:UnspecifiedMatching -OMIM:600831 DAPK1 skos:exactMatch ncbigene:1612 semapv:UnspecifiedMatching -OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:13233 semapv:UnspecifiedMatching -OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:ANP32A semapv:UnspecifiedMatching -OMIM:600832 ANP32A skos:exactMatch ncbigene:8125 semapv:UnspecifiedMatching -OMIM:600833 ST7 skos:exactMatch hgnc.symbol:11351 semapv:UnspecifiedMatching -OMIM:600833 ST7 skos:exactMatch hgnc.symbol:ST7 semapv:UnspecifiedMatching -OMIM:600833 ST7 skos:exactMatch ncbigene:7982 semapv:UnspecifiedMatching -OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:12953 semapv:UnspecifiedMatching -OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:ZNF165 semapv:UnspecifiedMatching -OMIM:600834 ZNF165 skos:exactMatch ncbigene:7718 semapv:UnspecifiedMatching -OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:10672 semapv:UnspecifiedMatching -OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:CXCL12 semapv:UnspecifiedMatching -OMIM:600835 CXCL12 skos:exactMatch ncbigene:6387 semapv:UnspecifiedMatching -OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:2395 semapv:UnspecifiedMatching -OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:CRYBA2 semapv:UnspecifiedMatching -OMIM:600836 CRYBA2 skos:exactMatch ncbigene:1412 semapv:UnspecifiedMatching -OMIM:600837 GDNF skos:exactMatch hgnc.symbol:4232 semapv:UnspecifiedMatching -OMIM:600837 GDNF skos:exactMatch hgnc.symbol:GDNF semapv:UnspecifiedMatching -OMIM:600837 GDNF skos:exactMatch ncbigene:2668 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C1421504 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394567 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394592 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:12765 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:FOXN1 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch ncbigene:8456 semapv:UnspecifiedMatching -OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:10910 semapv:UnspecifiedMatching -OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:SLC12A1 semapv:UnspecifiedMatching -OMIM:600839 SLC12A1 skos:exactMatch ncbigene:6557 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch UMLS:C1420091 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:10911 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:SLC12A2 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch ncbigene:6558 semapv:UnspecifiedMatching -OMIM:600842 GCKR skos:exactMatch UMLS:C1415015 semapv:UnspecifiedMatching -OMIM:600842 GCKR skos:exactMatch UMLS:C3150714 semapv:UnspecifiedMatching -OMIM:600842 GCKR skos:exactMatch hgnc.symbol:4196 semapv:UnspecifiedMatching -OMIM:600842 GCKR skos:exactMatch hgnc.symbol:GCKR semapv:UnspecifiedMatching -OMIM:600842 GCKR skos:exactMatch ncbigene:2646 semapv:UnspecifiedMatching -OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:8534 semapv:UnspecifiedMatching -OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:P2RX3 semapv:UnspecifiedMatching -OMIM:600843 P2RX3 skos:exactMatch ncbigene:5024 semapv:UnspecifiedMatching -OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:15459 semapv:UnspecifiedMatching -OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:P2RX2 semapv:UnspecifiedMatching -OMIM:600844 P2RX2 skos:exactMatch ncbigene:22953 semapv:UnspecifiedMatching -OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:8533 semapv:UnspecifiedMatching -OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:P2RX1 semapv:UnspecifiedMatching -OMIM:600845 P2RX1 skos:exactMatch ncbigene:5023 semapv:UnspecifiedMatching -OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:8535 semapv:UnspecifiedMatching -OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:P2RX4 semapv:UnspecifiedMatching -OMIM:600846 P2RX4 skos:exactMatch ncbigene:5025 semapv:UnspecifiedMatching -OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:7673 semapv:UnspecifiedMatching -OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:NCOR2 semapv:UnspecifiedMatching -OMIM:600848 NCOR2 skos:exactMatch ncbigene:9612 semapv:UnspecifiedMatching -OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:7672 semapv:UnspecifiedMatching -OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:NCOR1 semapv:UnspecifiedMatching -OMIM:600849 NCOR1 skos:exactMatch ncbigene:9611 semapv:UnspecifiedMatching -OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:7680 semapv:UnspecifiedMatching -OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:NDST1 semapv:UnspecifiedMatching -OMIM:600853 NDST1 skos:exactMatch ncbigene:3340 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch UMLS:C1414204 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch UMLS:C3279839 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:3091 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:DYRK1A semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch ncbigene:1859 semapv:UnspecifiedMatching -OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:1786 semapv:UnspecifiedMatching -OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:CDKN1C semapv:UnspecifiedMatching -OMIM:600856 CDKN1C skos:exactMatch ncbigene:1028 semapv:UnspecifiedMatching -OMIM:600857 SDHA skos:exactMatch hgnc.symbol:10680 semapv:UnspecifiedMatching -OMIM:600857 SDHA skos:exactMatch hgnc.symbol:SDHA semapv:UnspecifiedMatching -OMIM:600857 SDHA skos:exactMatch ncbigene:6389 semapv:UnspecifiedMatching -OMIM:600858 cardiomyopathy, familial hypertrophic, 6 skos:exactMatch UMLS:C1833236 semapv:UnspecifiedMatching -OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:20609 semapv:UnspecifiedMatching -OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:AIMP2 semapv:UnspecifiedMatching -OMIM:600859 AIMP2 skos:exactMatch ncbigene:7965 semapv:UnspecifiedMatching -OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:4662 semapv:UnspecifiedMatching -OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:GTF3A semapv:UnspecifiedMatching -OMIM:600860 GTF3A skos:exactMatch ncbigene:2971 semapv:UnspecifiedMatching -OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:9998 semapv:UnspecifiedMatching -OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:RGS2 semapv:UnspecifiedMatching -OMIM:600861 RGS2 skos:exactMatch ncbigene:5997 semapv:UnspecifiedMatching -OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:5175 semapv:UnspecifiedMatching -OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:AGFG1 semapv:UnspecifiedMatching -OMIM:600862 AGFG1 skos:exactMatch ncbigene:3267 semapv:UnspecifiedMatching -OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:2453 semapv:UnspecifiedMatching -OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:CSNK1E semapv:UnspecifiedMatching -OMIM:600863 CSNK1E skos:exactMatch ncbigene:1454 semapv:UnspecifiedMatching -OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:2452 semapv:UnspecifiedMatching -OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:CSNK1D semapv:UnspecifiedMatching -OMIM:600864 CSNK1D skos:exactMatch ncbigene:1453 semapv:UnspecifiedMatching -OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:10467 semapv:UnspecifiedMatching -OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:RTN1 semapv:UnspecifiedMatching -OMIM:600865 RTN1 skos:exactMatch ncbigene:6252 semapv:UnspecifiedMatching -OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:8762 semapv:UnspecifiedMatching -OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:PDCD2 semapv:UnspecifiedMatching -OMIM:600866 PDCD2 skos:exactMatch ncbigene:5134 semapv:UnspecifiedMatching -OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:11324 semapv:UnspecifiedMatching -OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:SSR2 semapv:UnspecifiedMatching -OMIM:600867 SSR2 skos:exactMatch ncbigene:6746 semapv:UnspecifiedMatching -OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:11323 semapv:UnspecifiedMatching -OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:SSR1 semapv:UnspecifiedMatching -OMIM:600868 SSR1 skos:exactMatch ncbigene:6745 semapv:UnspecifiedMatching -OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:4545 semapv:UnspecifiedMatching -OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:GRK6 semapv:UnspecifiedMatching -OMIM:600869 GRK6 skos:exactMatch ncbigene:2870 semapv:UnspecifiedMatching -OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:4544 semapv:UnspecifiedMatching -OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:GRK5 semapv:UnspecifiedMatching -OMIM:600870 GRK5 skos:exactMatch ncbigene:2869 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch UMLS:C1415044 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:4237 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:GFI1 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch ncbigene:2672 semapv:UnspecifiedMatching -OMIM:600873 CTBS skos:exactMatch hgnc.symbol:2496 semapv:UnspecifiedMatching -OMIM:600873 CTBS skos:exactMatch hgnc.symbol:CTBS semapv:UnspecifiedMatching -OMIM:600873 CTBS skos:exactMatch ncbigene:1486 semapv:UnspecifiedMatching -OMIM:600874 GNG5 skos:exactMatch hgnc.symbol:4408 semapv:UnspecifiedMatching -OMIM:600874 GNG5 skos:exactMatch hgnc.symbol:GNG5 semapv:UnspecifiedMatching -OMIM:600874 GNG5 skos:exactMatch ncbigene:2787 semapv:UnspecifiedMatching -OMIM:600875 ACYP1 skos:exactMatch hgnc.symbol:179 semapv:UnspecifiedMatching -OMIM:600875 ACYP1 skos:exactMatch hgnc.symbol:ACYP1 semapv:UnspecifiedMatching -OMIM:600875 ACYP1 skos:exactMatch ncbigene:97 semapv:UnspecifiedMatching -OMIM:600876 STX3 skos:exactMatch hgnc.symbol:11438 semapv:UnspecifiedMatching -OMIM:600876 STX3 skos:exactMatch hgnc.symbol:STX3 semapv:UnspecifiedMatching -OMIM:600876 STX3 skos:exactMatch ncbigene:6809 semapv:UnspecifiedMatching -OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:6267 semapv:UnspecifiedMatching -OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:KCNJ6 semapv:UnspecifiedMatching -OMIM:600877 KCNJ6 skos:exactMatch ncbigene:3763 semapv:UnspecifiedMatching -OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:7996 semapv:UnspecifiedMatching -OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:NRF1 semapv:UnspecifiedMatching -OMIM:600879 NRF1 skos:exactMatch ncbigene:4899 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:441452 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch UMLS:C1833229 semapv:UnspecifiedMatching -OMIM:600883 iia 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching -OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:7326 semapv:UnspecifiedMatching -OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:MSH3 semapv:UnspecifiedMatching -OMIM:600887 MSH3 skos:exactMatch ncbigene:4437 semapv:UnspecifiedMatching -OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:13209 semapv:UnspecifiedMatching -OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:ARHGEF5 semapv:UnspecifiedMatching -OMIM:600888 ARHGEF5 skos:exactMatch ncbigene:7984 semapv:UnspecifiedMatching -OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:4890 semapv:UnspecifiedMatching -OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:CFHR2 semapv:UnspecifiedMatching -OMIM:600889 CFHR2 skos:exactMatch ncbigene:3080 semapv:UnspecifiedMatching -OMIM:600890 HADHA skos:exactMatch hgnc.symbol:4801 semapv:UnspecifiedMatching -OMIM:600890 HADHA skos:exactMatch hgnc.symbol:HADHA semapv:UnspecifiedMatching -OMIM:600890 HADHA skos:exactMatch ncbigene:3030 semapv:UnspecifiedMatching -OMIM:600892 SIM2 skos:exactMatch UMLS:C1420068 semapv:UnspecifiedMatching -OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:10883 semapv:UnspecifiedMatching -OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:SIM2 semapv:UnspecifiedMatching -OMIM:600892 SIM2 skos:exactMatch ncbigene:6493 semapv:UnspecifiedMatching -OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:4464 semapv:UnspecifiedMatching -OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:PRLHR semapv:UnspecifiedMatching -OMIM:600895 PRLHR skos:exactMatch ncbigene:2834 semapv:UnspecifiedMatching -OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:4468 semapv:UnspecifiedMatching -OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:UTS2R semapv:UnspecifiedMatching -OMIM:600896 GPR14 skos:exactMatch ncbigene:2837 semapv:UnspecifiedMatching -OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:4281 semapv:UnspecifiedMatching -OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:GJA8 semapv:UnspecifiedMatching -OMIM:600897 GJA8 skos:exactMatch ncbigene:2703 semapv:UnspecifiedMatching -OMIM:600898 SOX11 skos:exactMatch UMLS:C1420318 semapv:UnspecifiedMatching -OMIM:600898 SOX11 skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching -OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:11191 semapv:UnspecifiedMatching -OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:SOX11 semapv:UnspecifiedMatching -OMIM:600898 SOX11 skos:exactMatch ncbigene:6664 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch UMLS:C1335262 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch UMLS:C4016698 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch UMLS:C4016699 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:9413 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:PRKDC semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch ncbigene:5591 semapv:UnspecifiedMatching -OMIM:600900 SGCB skos:exactMatch hgnc.symbol:10806 semapv:UnspecifiedMatching -OMIM:600900 SGCB skos:exactMatch hgnc.symbol:SGCB semapv:UnspecifiedMatching -OMIM:600900 SGCB skos:exactMatch ncbigene:6443 semapv:UnspecifiedMatching -OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:19685 semapv:UnspecifiedMatching -OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:SEPHS1 semapv:UnspecifiedMatching -OMIM:600902 SEPHS1 skos:exactMatch ncbigene:22929 semapv:UnspecifiedMatching -OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:773 semapv:UnspecifiedMatching -OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:ASTN1 semapv:UnspecifiedMatching -OMIM:600904 ASTN1 skos:exactMatch ncbigene:460 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch UMLS:C1416926 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch UMLS:C4225300 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch hgnc.symbol:6708 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch hgnc.symbol:LSS semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch ncbigene:4047 semapv:UnspecifiedMatching -OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:6087 semapv:UnspecifiedMatching -OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:INSL4 semapv:UnspecifiedMatching -OMIM:600910 INSL4 skos:exactMatch ncbigene:3641 semapv:UnspecifiedMatching -OMIM:600911 MPPED2 skos:exactMatch hgnc.symbol:1180 semapv:UnspecifiedMatching -OMIM:600911 MPPED2 skos:exactMatch hgnc.symbol:MPPED2 semapv:UnspecifiedMatching -OMIM:600911 MPPED2 skos:exactMatch ncbigene:744 semapv:UnspecifiedMatching -OMIM:600912 TCF19 skos:exactMatch hgnc.symbol:11629 semapv:UnspecifiedMatching -OMIM:600912 TCF19 skos:exactMatch hgnc.symbol:TCF19 semapv:UnspecifiedMatching -OMIM:600912 TCF19 skos:exactMatch ncbigene:6941 semapv:UnspecifiedMatching -OMIM:600914 SRSF5 skos:exactMatch hgnc.symbol:10787 semapv:UnspecifiedMatching -OMIM:600914 SRSF5 skos:exactMatch hgnc.symbol:SRSF5 semapv:UnspecifiedMatching -OMIM:600914 SRSF5 skos:exactMatch ncbigene:6430 semapv:UnspecifiedMatching -OMIM:600915 NES skos:exactMatch hgnc.symbol:7756 semapv:UnspecifiedMatching -OMIM:600915 NES skos:exactMatch hgnc.symbol:NES semapv:UnspecifiedMatching -OMIM:600915 NES skos:exactMatch ncbigene:10763 semapv:UnspecifiedMatching -OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:6074 semapv:UnspecifiedMatching -OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:INPP4A semapv:UnspecifiedMatching -OMIM:600916 INPP4A skos:exactMatch ncbigene:3631 semapv:UnspecifiedMatching -OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:9291 semapv:UnspecifiedMatching -OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:PPP1R3A semapv:UnspecifiedMatching -OMIM:600917 PPP1R3A skos:exactMatch ncbigene:5506 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch UMLS:C1333540 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:3687 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:FGF9 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch ncbigene:2254 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch UMLS:C1334539 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch UMLS:C1608393 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch hgnc.symbol:7590 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch hgnc.symbol:MYLK semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch ncbigene:4638 semapv:UnspecifiedMatching -OMIM:600923 PPOX skos:exactMatch hgnc.symbol:9280 semapv:UnspecifiedMatching -OMIM:600923 PPOX skos:exactMatch hgnc.symbol:PPOX semapv:UnspecifiedMatching -OMIM:600923 PPOX skos:exactMatch ncbigene:5498 semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch UMLS:C1415043 semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch hgnc.symbol:4236 semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch hgnc.symbol:GFER semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch ncbigene:2671 semapv:UnspecifiedMatching -OMIM:600925 PTPRJ skos:exactMatch UMLS:C1335288 semapv:UnspecifiedMatching -OMIM:600925 PTPRJ skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching -OMIM:600925 PTPRJ skos:exactMatch hgnc.symbol:9673 semapv:UnspecifiedMatching -OMIM:600925 PTPRJ skos:exactMatch hgnc.symbol:PTPRJ semapv:UnspecifiedMatching -OMIM:600925 PTPRJ skos:exactMatch ncbigene:5795 semapv:UnspecifiedMatching -OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:9669 semapv:UnspecifiedMatching -OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:PTPRE semapv:UnspecifiedMatching -OMIM:600926 PTPRE skos:exactMatch ncbigene:5791 semapv:UnspecifiedMatching -OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:1790 semapv:UnspecifiedMatching -OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:CDKN2D semapv:UnspecifiedMatching -OMIM:600927 CDKN2D skos:exactMatch ncbigene:1032 semapv:UnspecifiedMatching -OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:14124 semapv:UnspecifiedMatching -OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:NPRL3 semapv:UnspecifiedMatching -OMIM:600928 NPRL3 skos:exactMatch ncbigene:8131 semapv:UnspecifiedMatching -OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:2397 semapv:UnspecifiedMatching -OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:CRYBB1 semapv:UnspecifiedMatching -OMIM:600929 CRYBB1 skos:exactMatch ncbigene:1414 semapv:UnspecifiedMatching -OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:11217 semapv:UnspecifiedMatching -OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:SPAM1 semapv:UnspecifiedMatching -OMIM:600930 SPAM1 skos:exactMatch ncbigene:6677 semapv:UnspecifiedMatching -OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:6270 semapv:UnspecifiedMatching -OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:KCNJ9 semapv:UnspecifiedMatching -OMIM:600932 KCNJ9 skos:exactMatch ncbigene:3765 semapv:UnspecifiedMatching -OMIM:600933 F2RL1 skos:exactMatch hgnc.symbol:3538 semapv:UnspecifiedMatching -OMIM:600933 F2RL1 skos:exactMatch hgnc.symbol:F2RL1 semapv:UnspecifiedMatching -OMIM:600933 F2RL1 skos:exactMatch ncbigene:2150 semapv:UnspecifiedMatching -OMIM:600934 FOLH1 skos:exactMatch hgnc.symbol:3788 semapv:UnspecifiedMatching -OMIM:600934 FOLH1 skos:exactMatch hgnc.symbol:FOLH1 semapv:UnspecifiedMatching -OMIM:600934 FOLH1 skos:exactMatch ncbigene:2346 semapv:UnspecifiedMatching -OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:6269 semapv:UnspecifiedMatching -OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:KCNJ8 semapv:UnspecifiedMatching -OMIM:600935 KCNJ8 skos:exactMatch ncbigene:3764 semapv:UnspecifiedMatching -OMIM:600936 HMMR skos:exactMatch hgnc.symbol:5012 semapv:UnspecifiedMatching -OMIM:600936 HMMR skos:exactMatch hgnc.symbol:HMMR semapv:UnspecifiedMatching -OMIM:600936 HMMR skos:exactMatch ncbigene:3161 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1416578 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C3152078 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C4225365 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394568 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:6257 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:KCNJ11 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch ncbigene:3767 semapv:UnspecifiedMatching -OMIM:600938 RBBP6 skos:exactMatch hgnc.symbol:9889 semapv:UnspecifiedMatching -OMIM:600938 RBBP6 skos:exactMatch hgnc.symbol:RBBP6 semapv:UnspecifiedMatching -OMIM:600938 RBBP6 skos:exactMatch ncbigene:5930 semapv:UnspecifiedMatching -OMIM:600939 IL11RA skos:exactMatch hgnc.symbol:5967 semapv:UnspecifiedMatching -OMIM:600939 IL11RA skos:exactMatch hgnc.symbol:IL11RA semapv:UnspecifiedMatching -OMIM:600939 IL11RA skos:exactMatch ncbigene:3590 semapv:UnspecifiedMatching -OMIM:600940 LIG3 skos:exactMatch hgnc.symbol:6600 semapv:UnspecifiedMatching -OMIM:600940 LIG3 skos:exactMatch hgnc.symbol:LIG3 semapv:UnspecifiedMatching -OMIM:600940 LIG3 skos:exactMatch ncbigene:3980 semapv:UnspecifiedMatching -OMIM:600941 BLVRB skos:exactMatch hgnc.symbol:1063 semapv:UnspecifiedMatching -OMIM:600941 BLVRB skos:exactMatch hgnc.symbol:BLVRB semapv:UnspecifiedMatching -OMIM:600941 BLVRB skos:exactMatch ncbigene:645 semapv:UnspecifiedMatching -OMIM:600943 SERPINH1 skos:exactMatch hgnc.symbol:1546 semapv:UnspecifiedMatching -OMIM:600943 SERPINH1 skos:exactMatch hgnc.symbol:SERPINH1 semapv:UnspecifiedMatching -OMIM:600943 SERPINH1 skos:exactMatch ncbigene:871 semapv:UnspecifiedMatching -OMIM:600944 DHPS skos:exactMatch hgnc.symbol:2869 semapv:UnspecifiedMatching -OMIM:600944 DHPS skos:exactMatch hgnc.symbol:DHPS semapv:UnspecifiedMatching -OMIM:600944 DHPS skos:exactMatch ncbigene:1725 semapv:UnspecifiedMatching -OMIM:600945 UCN skos:exactMatch hgnc.symbol:12516 semapv:UnspecifiedMatching -OMIM:600945 UCN skos:exactMatch hgnc.symbol:UCN semapv:UnspecifiedMatching -OMIM:600945 UCN skos:exactMatch ncbigene:7349 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C0271568 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C1415063 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C1858656 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C3888131 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C4016705 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C4016706 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch UMLS:C4016707 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch hgnc.symbol:4263 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch hgnc.symbol:GHR semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch ncbigene:2690 semapv:UnspecifiedMatching -OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:4812 semapv:UnspecifiedMatching -OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:HAP1 semapv:UnspecifiedMatching -OMIM:600947 HAP1 skos:exactMatch ncbigene:9001 semapv:UnspecifiedMatching -OMIM:600948 MOBP skos:exactMatch hgnc.symbol:7189 semapv:UnspecifiedMatching -OMIM:600948 MOBP skos:exactMatch hgnc.symbol:MOBP semapv:UnspecifiedMatching -OMIM:600948 MOBP skos:exactMatch ncbigene:4336 semapv:UnspecifiedMatching -OMIM:600950 AANAT skos:exactMatch hgnc.symbol:19 semapv:UnspecifiedMatching -OMIM:600950 AANAT skos:exactMatch hgnc.symbol:AANAT semapv:UnspecifiedMatching -OMIM:600950 AANAT skos:exactMatch ncbigene:15 semapv:UnspecifiedMatching -OMIM:600951 TERF1 skos:exactMatch hgnc.symbol:11728 semapv:UnspecifiedMatching -OMIM:600951 TERF1 skos:exactMatch hgnc.symbol:TERF1 semapv:UnspecifiedMatching -OMIM:600951 TERF1 skos:exactMatch ncbigene:7013 semapv:UnspecifiedMatching -OMIM:600953 IL18 skos:exactMatch UMLS:C1334109 semapv:UnspecifiedMatching -OMIM:600953 IL18 skos:exactMatch hgnc.symbol:5986 semapv:UnspecifiedMatching -OMIM:600953 IL18 skos:exactMatch hgnc.symbol:IL18 semapv:UnspecifiedMatching -OMIM:600953 IL18 skos:exactMatch ncbigene:3606 semapv:UnspecifiedMatching -OMIM:600954 DAP skos:exactMatch hgnc.symbol:2672 semapv:UnspecifiedMatching -OMIM:600954 DAP skos:exactMatch hgnc.symbol:DAP semapv:UnspecifiedMatching -OMIM:600954 DAP skos:exactMatch ncbigene:1611 semapv:UnspecifiedMatching -OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:465 semapv:UnspecifiedMatching -OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:AMHR2 semapv:UnspecifiedMatching -OMIM:600956 AMHR2 skos:exactMatch ncbigene:269 semapv:UnspecifiedMatching -OMIM:600957 AMH skos:exactMatch hgnc.symbol:464 semapv:UnspecifiedMatching -OMIM:600957 AMH skos:exactMatch hgnc.symbol:AMH semapv:UnspecifiedMatching -OMIM:600957 AMH skos:exactMatch ncbigene:268 semapv:UnspecifiedMatching -OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:7551 semapv:UnspecifiedMatching -OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:MYBPC3 semapv:UnspecifiedMatching -OMIM:600958 MYBPC3 skos:exactMatch ncbigene:4607 semapv:UnspecifiedMatching -OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:2231 semapv:UnspecifiedMatching -OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:COPB1 semapv:UnspecifiedMatching -OMIM:600959 COPB1 skos:exactMatch ncbigene:1315 semapv:UnspecifiedMatching -OMIM:600960 SET skos:exactMatch hgnc.symbol:10760 semapv:UnspecifiedMatching -OMIM:600960 SET skos:exactMatch hgnc.symbol:SET semapv:UnspecifiedMatching -OMIM:600960 SET skos:exactMatch ncbigene:6418 semapv:UnspecifiedMatching -OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:10891 semapv:UnspecifiedMatching -OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:SIX5 semapv:UnspecifiedMatching -OMIM:600963 SIX5 skos:exactMatch ncbigene:147912 semapv:UnspecifiedMatching -OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:6628 semapv:UnspecifiedMatching -OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:LLGL1 semapv:UnspecifiedMatching -OMIM:600966 LLGL1 skos:exactMatch ncbigene:3996 semapv:UnspecifiedMatching -OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:3119 semapv:UnspecifiedMatching -OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:E2F5 semapv:UnspecifiedMatching -OMIM:600967 E2F5 skos:exactMatch ncbigene:1875 semapv:UnspecifiedMatching -OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:10912 semapv:UnspecifiedMatching -OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:SLC12A3 semapv:UnspecifiedMatching -OMIM:600968 SLC12A3 skos:exactMatch ncbigene:6559 semapv:UnspecifiedMatching -OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:7605 semapv:UnspecifiedMatching -OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:MYO6 semapv:UnspecifiedMatching -OMIM:600970 MYO6 skos:exactMatch ncbigene:4646 semapv:UnspecifiedMatching -OMIM:600976 FAT1 skos:exactMatch UMLS:C0812278 semapv:UnspecifiedMatching -OMIM:600976 FAT1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:3595 semapv:UnspecifiedMatching -OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:FAT1 semapv:UnspecifiedMatching -OMIM:600976 FAT1 skos:exactMatch ncbigene:2195 semapv:UnspecifiedMatching -OMIM:600978 LTB skos:exactMatch hgnc.symbol:6711 semapv:UnspecifiedMatching -OMIM:600978 LTB skos:exactMatch hgnc.symbol:LTB semapv:UnspecifiedMatching -OMIM:600978 LTB skos:exactMatch ncbigene:4050 semapv:UnspecifiedMatching -OMIM:600979 LTBR skos:exactMatch hgnc.symbol:6718 semapv:UnspecifiedMatching -OMIM:600979 LTBR skos:exactMatch hgnc.symbol:LTBR semapv:UnspecifiedMatching -OMIM:600979 LTBR skos:exactMatch ncbigene:4055 semapv:UnspecifiedMatching -OMIM:600980 DMP1 skos:exactMatch hgnc.symbol:2932 semapv:UnspecifiedMatching -OMIM:600980 DMP1 skos:exactMatch hgnc.symbol:DMP1 semapv:UnspecifiedMatching -OMIM:600980 DMP1 skos:exactMatch ncbigene:1758 semapv:UnspecifiedMatching -OMIM:600981 PGM5 skos:exactMatch hgnc.symbol:8908 semapv:UnspecifiedMatching -OMIM:600981 PGM5 skos:exactMatch hgnc.symbol:PGM5 semapv:UnspecifiedMatching -OMIM:600981 PGM5 skos:exactMatch ncbigene:5239 semapv:UnspecifiedMatching -OMIM:600982 MAP3K1 skos:exactMatch hgnc.symbol:6848 semapv:UnspecifiedMatching -OMIM:600982 MAP3K1 skos:exactMatch hgnc.symbol:MAP3K1 semapv:UnspecifiedMatching -OMIM:600982 MAP3K1 skos:exactMatch ncbigene:4214 semapv:UnspecifiedMatching -OMIM:600983 NR3C2 skos:exactMatch hgnc.symbol:7979 semapv:UnspecifiedMatching -OMIM:600983 NR3C2 skos:exactMatch hgnc.symbol:NR3C2 semapv:UnspecifiedMatching -OMIM:600983 NR3C2 skos:exactMatch ncbigene:4306 semapv:UnspecifiedMatching -OMIM:600984 ATF6B skos:exactMatch hgnc.symbol:2349 semapv:UnspecifiedMatching -OMIM:600984 ATF6B skos:exactMatch hgnc.symbol:ATF6B semapv:UnspecifiedMatching -OMIM:600984 ATF6B skos:exactMatch ncbigene:1388 semapv:UnspecifiedMatching -OMIM:600985 TNXB skos:exactMatch hgnc.symbol:11976 semapv:UnspecifiedMatching -OMIM:600985 TNXB skos:exactMatch hgnc.symbol:TNXB semapv:UnspecifiedMatching -OMIM:600985 TNXB skos:exactMatch ncbigene:7148 semapv:UnspecifiedMatching -OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:19019 semapv:UnspecifiedMatching -OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:TRIM46 semapv:UnspecifiedMatching -OMIM:600986 TRIM46 skos:exactMatch ncbigene:80128 semapv:UnspecifiedMatching -OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:6825 semapv:UnspecifiedMatching -OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:MAN2A2 semapv:UnspecifiedMatching -OMIM:600988 MAN2A2 skos:exactMatch ncbigene:4122 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C0345893 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C0694891 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832940 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:6770 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:SMAD4 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch ncbigene:4089 semapv:UnspecifiedMatching -OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:3393 semapv:UnspecifiedMatching -OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:EPHB2 semapv:UnspecifiedMatching -OMIM:600997 EPHB2 skos:exactMatch ncbigene:2048 semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch UMLS:C1333685 semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch UMLS:C3806954 semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch UMLS:C4016711 semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:4390 semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:GNAQ semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch ncbigene:2776 semapv:UnspecifiedMatching -OMIM:600999 MAZ skos:exactMatch hgnc.symbol:6914 semapv:UnspecifiedMatching -OMIM:600999 MAZ skos:exactMatch hgnc.symbol:MAZ semapv:UnspecifiedMatching -OMIM:600999 MAZ skos:exactMatch ncbigene:4150 semapv:UnspecifiedMatching -OMIM:601002 GSS skos:exactMatch hgnc.symbol:4624 semapv:UnspecifiedMatching -OMIM:601002 GSS skos:exactMatch hgnc.symbol:GSS semapv:UnspecifiedMatching -OMIM:601002 GSS skos:exactMatch ncbigene:2937 semapv:UnspecifiedMatching -OMIM:601007 LEPR skos:exactMatch hgnc.symbol:6554 semapv:UnspecifiedMatching -OMIM:601007 LEPR skos:exactMatch hgnc.symbol:LEPR semapv:UnspecifiedMatching -OMIM:601007 LEPR skos:exactMatch ncbigene:3953 semapv:UnspecifiedMatching -OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:11827 semapv:UnspecifiedMatching -OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:TJP1 semapv:UnspecifiedMatching -OMIM:601009 TJP1 skos:exactMatch ncbigene:7082 semapv:UnspecifiedMatching -OMIM:601010 TCF15 skos:exactMatch UMLS:C1420633 semapv:UnspecifiedMatching -OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:11627 semapv:UnspecifiedMatching -OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:TCF15 semapv:UnspecifiedMatching -OMIM:601010 TCF15 skos:exactMatch ncbigene:6939 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C0752124 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C1456413 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C1720416 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832885 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832903 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C4016713 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:1388 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:CACNA1A semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch ncbigene:773 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch UMLS:C1413056 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch UMLS:C5193128 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:1389 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:CACNA1B semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch ncbigene:774 semapv:UnspecifiedMatching -OMIM:601013 CACNA1E skos:exactMatch UMLS:C1413059 semapv:UnspecifiedMatching -OMIM:601013 CACNA1E skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching -OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:1392 semapv:UnspecifiedMatching -OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:CACNA1E semapv:UnspecifiedMatching -OMIM:601013 CACNA1E skos:exactMatch ncbigene:777 semapv:UnspecifiedMatching -OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:2900 semapv:UnspecifiedMatching -OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:DLG1 semapv:UnspecifiedMatching -OMIM:601014 DLG1 skos:exactMatch ncbigene:1739 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch UMLS:C1422736 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:14537 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:NPC2 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch ncbigene:10577 semapv:UnspecifiedMatching -OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:11167 semapv:UnspecifiedMatching -OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:SNTA1 semapv:UnspecifiedMatching -OMIM:601017 SNTA1 skos:exactMatch ncbigene:6640 semapv:UnspecifiedMatching -OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:11056 semapv:UnspecifiedMatching -OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:SLC6A9 semapv:UnspecifiedMatching -OMIM:601019 SLC6A9 skos:exactMatch ncbigene:6536 semapv:UnspecifiedMatching -OMIM:601020 CD86 skos:exactMatch hgnc.symbol:1705 semapv:UnspecifiedMatching -OMIM:601020 CD86 skos:exactMatch hgnc.symbol:CD86 semapv:UnspecifiedMatching -OMIM:601020 CD86 skos:exactMatch ncbigene:942 semapv:UnspecifiedMatching -OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:8068 semapv:UnspecifiedMatching -OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:NUP98 semapv:UnspecifiedMatching -OMIM:601021 NUP98 skos:exactMatch ncbigene:4928 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1417711 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:7800 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:NFKBIL1 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch ncbigene:4795 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C1421437 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C4225244 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C5436950 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C5436951 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C5436952 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch UMLS:C5436953 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch hgnc.symbol:12666 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch hgnc.symbol:VCP semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch ncbigene:7415 semapv:UnspecifiedMatching -OMIM:601024 AP2M1 skos:exactMatch UMLS:C1412444 semapv:UnspecifiedMatching -OMIM:601024 AP2M1 skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching -OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:564 semapv:UnspecifiedMatching -OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:AP2M1 semapv:UnspecifiedMatching -OMIM:601024 AP2M1 skos:exactMatch ncbigene:1173 semapv:UnspecifiedMatching -OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:563 semapv:UnspecifiedMatching -OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:AP2B1 semapv:UnspecifiedMatching -OMIM:601025 AP2B1 skos:exactMatch ncbigene:163 semapv:UnspecifiedMatching -OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:561 semapv:UnspecifiedMatching -OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:AP2A1 semapv:UnspecifiedMatching -OMIM:601026 AP2A1 skos:exactMatch ncbigene:160 semapv:UnspecifiedMatching -OMIM:601028 CD47 skos:exactMatch hgnc.symbol:1682 semapv:UnspecifiedMatching -OMIM:601028 CD47 skos:exactMatch hgnc.symbol:CD47 semapv:UnspecifiedMatching -OMIM:601028 CD47 skos:exactMatch ncbigene:961 semapv:UnspecifiedMatching -OMIM:601029 MEST skos:exactMatch UMLS:C1417122 semapv:UnspecifiedMatching -OMIM:601029 MEST skos:exactMatch hgnc.symbol:7028 semapv:UnspecifiedMatching -OMIM:601029 MEST skos:exactMatch hgnc.symbol:MEST semapv:UnspecifiedMatching -OMIM:601029 MEST skos:exactMatch ncbigene:4232 semapv:UnspecifiedMatching -OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:10047 semapv:UnspecifiedMatching -OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:RNASE4 semapv:UnspecifiedMatching -OMIM:601030 RNASE4 skos:exactMatch ncbigene:6038 semapv:UnspecifiedMatching -OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:19973 semapv:UnspecifiedMatching -OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:RHPN1 semapv:UnspecifiedMatching -OMIM:601031 RHPN1 skos:exactMatch ncbigene:114822 semapv:UnspecifiedMatching -OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:9405 semapv:UnspecifiedMatching -OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:PKN1 semapv:UnspecifiedMatching -OMIM:601032 PKN1 skos:exactMatch ncbigene:5585 semapv:UnspecifiedMatching -OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:6485 semapv:UnspecifiedMatching -OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:LAMA5 semapv:UnspecifiedMatching -OMIM:601033 LAMA5 skos:exactMatch ncbigene:3911 semapv:UnspecifiedMatching -OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:5041 semapv:UnspecifiedMatching -OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:HNRNPH1 semapv:UnspecifiedMatching -OMIM:601035 HNRNPH1 skos:exactMatch ncbigene:3187 semapv:UnspecifiedMatching -OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:5039 semapv:UnspecifiedMatching -OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:HNRNPF semapv:UnspecifiedMatching -OMIM:601037 HNRNPF skos:exactMatch ncbigene:3185 semapv:UnspecifiedMatching -OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:2885 semapv:UnspecifiedMatching -OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:DIO3 semapv:UnspecifiedMatching -OMIM:601038 DIO3 skos:exactMatch ncbigene:1735 semapv:UnspecifiedMatching -OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:1664 semapv:UnspecifiedMatching -OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:SCARB1 semapv:UnspecifiedMatching -OMIM:601040 SCARB1 skos:exactMatch ncbigene:949 semapv:UnspecifiedMatching -OMIM:601041 TLE2 skos:exactMatch UMLS:C1420753 semapv:UnspecifiedMatching -OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:11838 semapv:UnspecifiedMatching -OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:TLE2 semapv:UnspecifiedMatching -OMIM:601041 TLE2 skos:exactMatch ncbigene:7089 semapv:UnspecifiedMatching -OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:2515 semapv:UnspecifiedMatching -OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:CTNND1 semapv:UnspecifiedMatching -OMIM:601045 CTNND1 skos:exactMatch ncbigene:1500 semapv:UnspecifiedMatching -OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:7158 semapv:UnspecifiedMatching -OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:MMP12 semapv:UnspecifiedMatching -OMIM:601046 MMP12 skos:exactMatch ncbigene:4321 semapv:UnspecifiedMatching -OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:1527 semapv:UnspecifiedMatching -OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:CAV1 semapv:UnspecifiedMatching -OMIM:601047 CAV1 skos:exactMatch ncbigene:857 semapv:UnspecifiedMatching -OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:1528 semapv:UnspecifiedMatching -OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:CAV2 semapv:UnspecifiedMatching -OMIM:601048 CAV2 skos:exactMatch ncbigene:858 semapv:UnspecifiedMatching -OMIM:601051 MSLN skos:exactMatch hgnc.symbol:7371 semapv:UnspecifiedMatching -OMIM:601051 MSLN skos:exactMatch hgnc.symbol:MSLN semapv:UnspecifiedMatching -OMIM:601051 MSLN skos:exactMatch ncbigene:10232 semapv:UnspecifiedMatching -OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:8988 semapv:UnspecifiedMatching -OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:PIN1 semapv:UnspecifiedMatching -OMIM:601052 PIN1 skos:exactMatch ncbigene:5300 semapv:UnspecifiedMatching -OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:9103 semapv:UnspecifiedMatching -OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:PLXNB1 semapv:UnspecifiedMatching -OMIM:601053 PLXNB1 skos:exactMatch ncbigene:5364 semapv:UnspecifiedMatching -OMIM:601054 PLXNA2 skos:exactMatch UMLS:C1418661 semapv:UnspecifiedMatching -OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:9100 semapv:UnspecifiedMatching -OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:PLXNA2 semapv:UnspecifiedMatching -OMIM:601054 PLXNA2 skos:exactMatch ncbigene:5362 semapv:UnspecifiedMatching -OMIM:601055 PLXNA1 skos:exactMatch UMLS:C1418660 semapv:UnspecifiedMatching -OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:9099 semapv:UnspecifiedMatching -OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:PLXNA1 semapv:UnspecifiedMatching -OMIM:601055 PLXNA1 skos:exactMatch ncbigene:5361 semapv:UnspecifiedMatching -OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:991 semapv:UnspecifiedMatching -OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:BCL2A1 semapv:UnspecifiedMatching -OMIM:601056 BCL2A1 skos:exactMatch ncbigene:597 semapv:UnspecifiedMatching -OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:8765 semapv:UnspecifiedMatching -OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:PDCD6 semapv:UnspecifiedMatching -OMIM:601057 PDCD6 skos:exactMatch ncbigene:10016 semapv:UnspecifiedMatching -OMIM:601058 H3F3B skos:exactMatch hgnc.symbol:4765 semapv:UnspecifiedMatching -OMIM:601058 H3F3B skos:exactMatch hgnc.symbol:H3-3B semapv:UnspecifiedMatching -OMIM:601058 H3F3B skos:exactMatch ncbigene:3021 semapv:UnspecifiedMatching -OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:3357 semapv:UnspecifiedMatching -OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:ENPP2 semapv:UnspecifiedMatching -OMIM:601060 ENPP2 skos:exactMatch ncbigene:5168 semapv:UnspecifiedMatching -OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:11159 semapv:UnspecifiedMatching -OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:SNRPD2 semapv:UnspecifiedMatching -OMIM:601061 SNRPD2 skos:exactMatch ncbigene:6633 semapv:UnspecifiedMatching -OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:11160 semapv:UnspecifiedMatching -OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:SNRPD3 semapv:UnspecifiedMatching -OMIM:601062 SNRPD3 skos:exactMatch ncbigene:6634 semapv:UnspecifiedMatching -OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:11158 semapv:UnspecifiedMatching -OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:SNRPD1 semapv:UnspecifiedMatching -OMIM:601063 SNRPD1 skos:exactMatch ncbigene:6632 semapv:UnspecifiedMatching -OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:1107 semapv:UnspecifiedMatching -OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:ZFP36L1 semapv:UnspecifiedMatching -OMIM:601064 ZFP36L1 skos:exactMatch ncbigene:677 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch UMLS:C1412054 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch UMLS:C2750090 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:20 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:AARS1 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch ncbigene:16 semapv:UnspecifiedMatching -OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:8526 semapv:UnspecifiedMatching -OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:OXA1L semapv:UnspecifiedMatching -OMIM:601066 OXA1L skos:exactMatch ncbigene:5018 semapv:UnspecifiedMatching -OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:13031 semapv:UnspecifiedMatching -OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:ZNF239 semapv:UnspecifiedMatching -OMIM:601069 ZNF239 skos:exactMatch ncbigene:8187 semapv:UnspecifiedMatching -OMIM:601070 IL15RA skos:exactMatch hgnc.symbol:5978 semapv:UnspecifiedMatching -OMIM:601070 IL15RA skos:exactMatch hgnc.symbol:IL15RA semapv:UnspecifiedMatching -OMIM:601070 IL15RA skos:exactMatch ncbigene:3601 semapv:UnspecifiedMatching -OMIM:601074 CELF1 skos:exactMatch hgnc.symbol:2549 semapv:UnspecifiedMatching -OMIM:601074 CELF1 skos:exactMatch hgnc.symbol:CELF1 semapv:UnspecifiedMatching -OMIM:601074 CELF1 skos:exactMatch ncbigene:10658 semapv:UnspecifiedMatching -OMIM:601077 KRT31 skos:exactMatch hgnc.symbol:6448 semapv:UnspecifiedMatching -OMIM:601077 KRT31 skos:exactMatch hgnc.symbol:KRT31 semapv:UnspecifiedMatching -OMIM:601077 KRT31 skos:exactMatch ncbigene:3881 semapv:UnspecifiedMatching -OMIM:601078 KRT82 skos:exactMatch hgnc.symbol:6459 semapv:UnspecifiedMatching -OMIM:601078 KRT82 skos:exactMatch hgnc.symbol:KRT82 semapv:UnspecifiedMatching -OMIM:601078 KRT82 skos:exactMatch ncbigene:3888 semapv:UnspecifiedMatching -OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc.symbol:12456 semapv:UnspecifiedMatching -OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc.symbol:ZRSR2P1 semapv:UnspecifiedMatching -OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:23020 semapv:UnspecifiedMatching -OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:U2AF1L4 semapv:UnspecifiedMatching -OMIM:601080 U2AF1L4 skos:exactMatch ncbigene:199746 semapv:UnspecifiedMatching -OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:66 semapv:UnspecifiedMatching -OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:ABCD2 semapv:UnspecifiedMatching -OMIM:601081 ABCD2 skos:exactMatch ncbigene:225 semapv:UnspecifiedMatching -OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:12484 semapv:UnspecifiedMatching -OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:UBE2H semapv:UnspecifiedMatching -OMIM:601082 UBE2H skos:exactMatch ncbigene:7328 semapv:UnspecifiedMatching -OMIM:601088 ayme-gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching -OMIM:601088 ayme-gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching -OMIM:601089 FOXF1 skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching -OMIM:601089 FOXF1 skos:exactMatch UMLS:C1414677 semapv:UnspecifiedMatching -OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:3809 semapv:UnspecifiedMatching -OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:FOXF1 semapv:UnspecifiedMatching -OMIM:601089 FOXF1 skos:exactMatch ncbigene:2294 semapv:UnspecifiedMatching -OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:3800 semapv:UnspecifiedMatching -OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:FOXC1 semapv:UnspecifiedMatching -OMIM:601090 FOXC1 skos:exactMatch ncbigene:2296 semapv:UnspecifiedMatching -OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:3802 semapv:UnspecifiedMatching -OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:FOXD1 semapv:UnspecifiedMatching -OMIM:601091 FOXD1 skos:exactMatch ncbigene:2297 semapv:UnspecifiedMatching -OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:3805 semapv:UnspecifiedMatching -OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:FOXD4 semapv:UnspecifiedMatching -OMIM:601092 FOXD4 skos:exactMatch ncbigene:2298 semapv:UnspecifiedMatching -OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:3815 semapv:UnspecifiedMatching -OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:FOXI1 semapv:UnspecifiedMatching -OMIM:601093 FOXI1 skos:exactMatch ncbigene:2299 semapv:UnspecifiedMatching -OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:3808 semapv:UnspecifiedMatching -OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:FOXE3 semapv:UnspecifiedMatching -OMIM:601094 FOXE3 skos:exactMatch ncbigene:2301 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C0393814 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C1418677 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C1832783 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C2677379 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C3495591 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C4016264 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C4016716 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch UMLS:C4016717 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:9118 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:PMP22 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch ncbigene:5376 semapv:UnspecifiedMatching -OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch Orphanet:101083 semapv:UnspecifiedMatching -OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching -OMIM:601099 SLA skos:exactMatch hgnc.symbol:10902 semapv:UnspecifiedMatching -OMIM:601099 SLA skos:exactMatch hgnc.symbol:SLA semapv:UnspecifiedMatching -OMIM:601099 SLA skos:exactMatch ncbigene:6503 semapv:UnspecifiedMatching -OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:11375 semapv:UnspecifiedMatching -OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:HSPA13 semapv:UnspecifiedMatching -OMIM:601100 HSPA13 skos:exactMatch ncbigene:6782 semapv:UnspecifiedMatching -OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:3284 semapv:UnspecifiedMatching -OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:EIF4A2 semapv:UnspecifiedMatching -OMIM:601102 EIF4A2 skos:exactMatch ncbigene:1974 semapv:UnspecifiedMatching -OMIM:601103 MFAP5 skos:exactMatch hgnc.symbol:29673 semapv:UnspecifiedMatching -OMIM:601103 MFAP5 skos:exactMatch hgnc.symbol:MFAP5 semapv:UnspecifiedMatching -OMIM:601103 MFAP5 skos:exactMatch ncbigene:8076 semapv:UnspecifiedMatching -OMIM:601105 CTSK skos:exactMatch hgnc.symbol:2536 semapv:UnspecifiedMatching -OMIM:601105 CTSK skos:exactMatch hgnc.symbol:CTSK semapv:UnspecifiedMatching -OMIM:601105 CTSK skos:exactMatch ncbigene:1513 semapv:UnspecifiedMatching -OMIM:601107 ABCC2 skos:exactMatch hgnc.symbol:53 semapv:UnspecifiedMatching -OMIM:601107 ABCC2 skos:exactMatch hgnc.symbol:ABCC2 semapv:UnspecifiedMatching -OMIM:601107 ABCC2 skos:exactMatch ncbigene:1244 semapv:UnspecifiedMatching -OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:5301 semapv:UnspecifiedMatching -OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:HTR6 semapv:UnspecifiedMatching -OMIM:601109 HTR6 skos:exactMatch ncbigene:3362 semapv:UnspecifiedMatching -OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:12437 semapv:UnspecifiedMatching -OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:TXNRD1 semapv:UnspecifiedMatching -OMIM:601112 TXNRD1 skos:exactMatch ncbigene:7296 semapv:UnspecifiedMatching -OMIM:601113 HSPA4 skos:exactMatch UMLS:C1415760 semapv:UnspecifiedMatching -OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:5237 semapv:UnspecifiedMatching -OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:HSPA4 semapv:UnspecifiedMatching -OMIM:601113 HSPA4 skos:exactMatch ncbigene:3308 semapv:UnspecifiedMatching -OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:7221 semapv:UnspecifiedMatching -OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:MPP3 semapv:UnspecifiedMatching -OMIM:601114 MPP3 skos:exactMatch ncbigene:4356 semapv:UnspecifiedMatching -OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:4595 semapv:UnspecifiedMatching -OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:GRM3 semapv:UnspecifiedMatching -OMIM:601115 GRM3 skos:exactMatch ncbigene:2913 semapv:UnspecifiedMatching -OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:4600 semapv:UnspecifiedMatching -OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:GRM8 semapv:UnspecifiedMatching -OMIM:601116 GRM8 skos:exactMatch ncbigene:2918 semapv:UnspecifiedMatching -OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:11793 semapv:UnspecifiedMatching -OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:THOP1 semapv:UnspecifiedMatching -OMIM:601117 THOP1 skos:exactMatch ncbigene:7064 semapv:UnspecifiedMatching -OMIM:601118 CAMLG skos:exactMatch hgnc.symbol:1471 semapv:UnspecifiedMatching -OMIM:601118 CAMLG skos:exactMatch hgnc.symbol:CAMLG semapv:UnspecifiedMatching -OMIM:601118 CAMLG skos:exactMatch ncbigene:819 semapv:UnspecifiedMatching -OMIM:601119 CLPP skos:exactMatch hgnc.symbol:2084 semapv:UnspecifiedMatching -OMIM:601119 CLPP skos:exactMatch hgnc.symbol:CLPP semapv:UnspecifiedMatching -OMIM:601119 CLPP skos:exactMatch ncbigene:8192 semapv:UnspecifiedMatching -OMIM:601120 CDH5 skos:exactMatch hgnc.symbol:1764 semapv:UnspecifiedMatching -OMIM:601120 CDH5 skos:exactMatch hgnc.symbol:CDH5 semapv:UnspecifiedMatching -OMIM:601120 CDH5 skos:exactMatch ncbigene:1003 semapv:UnspecifiedMatching -OMIM:601121 PGF skos:exactMatch hgnc.symbol:8893 semapv:UnspecifiedMatching -OMIM:601121 PGF skos:exactMatch hgnc.symbol:PGF semapv:UnspecifiedMatching -OMIM:601121 PGF skos:exactMatch ncbigene:5228 semapv:UnspecifiedMatching -OMIM:601122 HTR2B skos:exactMatch hgnc.symbol:5294 semapv:UnspecifiedMatching -OMIM:601122 HTR2B skos:exactMatch hgnc.symbol:HTR2B semapv:UnspecifiedMatching -OMIM:601122 HTR2B skos:exactMatch ncbigene:3357 semapv:UnspecifiedMatching -OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:10869 semapv:UnspecifiedMatching -OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:ST8SIA1 semapv:UnspecifiedMatching -OMIM:601123 ST8SIA1 skos:exactMatch ncbigene:6489 semapv:UnspecifiedMatching -OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:10728 semapv:UnspecifiedMatching -OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:SEMA3F semapv:UnspecifiedMatching -OMIM:601124 SEMA3F skos:exactMatch ncbigene:6405 semapv:UnspecifiedMatching -OMIM:601125 HK2 skos:exactMatch hgnc.symbol:4923 semapv:UnspecifiedMatching -OMIM:601125 HK2 skos:exactMatch hgnc.symbol:HK2 semapv:UnspecifiedMatching -OMIM:601125 HK2 skos:exactMatch ncbigene:3099 semapv:UnspecifiedMatching -OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:11870 semapv:UnspecifiedMatching -OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:TMF1 semapv:UnspecifiedMatching -OMIM:601126 TMF1 skos:exactMatch ncbigene:7110 semapv:UnspecifiedMatching -OMIM:601128 H3F3A skos:exactMatch UMLS:C1415427 semapv:UnspecifiedMatching -OMIM:601128 H3F3A skos:exactMatch hgnc.symbol:4764 semapv:UnspecifiedMatching -OMIM:601128 H3F3A skos:exactMatch hgnc.symbol:H3-3A semapv:UnspecifiedMatching -OMIM:601128 H3F3A skos:exactMatch ncbigene:3020 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch UMLS:C1413873 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693948 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693986 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693987 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch hgnc.symbol:2622 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch hgnc.symbol:CYP2C8 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch ncbigene:1558 semapv:UnspecifiedMatching -OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:2623 semapv:UnspecifiedMatching -OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:CYP2C9 semapv:UnspecifiedMatching -OMIM:601130 CYP2C9 skos:exactMatch ncbigene:1559 semapv:UnspecifiedMatching -OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:2620 semapv:UnspecifiedMatching -OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:CYP2C18 semapv:UnspecifiedMatching -OMIM:601131 CYP2C18 skos:exactMatch ncbigene:1562 semapv:UnspecifiedMatching -OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:6465 semapv:UnspecifiedMatching -OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:KSR1 semapv:UnspecifiedMatching -OMIM:601132 KSR1 skos:exactMatch ncbigene:8844 semapv:UnspecifiedMatching -OMIM:601133 CYP2G1P skos:exactMatch UMLS:C1413879 semapv:UnspecifiedMatching -OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:2633 semapv:UnspecifiedMatching -OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:CYP2G1P semapv:UnspecifiedMatching -OMIM:601133 CYP2G1P skos:exactMatch ncbigene:22952 semapv:UnspecifiedMatching -OMIM:601134 STT3A skos:exactMatch UMLS:C1823138 semapv:UnspecifiedMatching -OMIM:601134 STT3A skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching -OMIM:601134 STT3A skos:exactMatch hgnc.symbol:6172 semapv:UnspecifiedMatching -OMIM:601134 STT3A skos:exactMatch hgnc.symbol:STT3A semapv:UnspecifiedMatching -OMIM:601134 STT3A skos:exactMatch ncbigene:3703 semapv:UnspecifiedMatching -OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:4186 semapv:UnspecifiedMatching -OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:GBX2 semapv:UnspecifiedMatching -OMIM:601135 GBX2 skos:exactMatch ncbigene:2637 semapv:UnspecifiedMatching -OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:4690 semapv:UnspecifiedMatching -OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:GUCY2EP semapv:UnspecifiedMatching -OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:12964 semapv:UnspecifiedMatching -OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:ZNF175 semapv:UnspecifiedMatching -OMIM:601139 ZNF175 skos:exactMatch ncbigene:7728 semapv:UnspecifiedMatching -OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:9057 semapv:UnspecifiedMatching -OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:PPP1R14B semapv:UnspecifiedMatching -OMIM:601140 PPP1R14B skos:exactMatch ncbigene:26472 semapv:UnspecifiedMatching -OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:6228 semapv:UnspecifiedMatching -OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:KCNAB1 semapv:UnspecifiedMatching -OMIM:601141 KCNAB1 skos:exactMatch ncbigene:7881 semapv:UnspecifiedMatching -OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:6229 semapv:UnspecifiedMatching -OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:KCNAB2 semapv:UnspecifiedMatching -OMIM:601142 KCNAB2 skos:exactMatch ncbigene:8514 semapv:UnspecifiedMatching -OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:2711 semapv:UnspecifiedMatching -OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:DCTN1 semapv:UnspecifiedMatching -OMIM:601143 DCTN1 skos:exactMatch ncbigene:1639 semapv:UnspecifiedMatching -OMIM:601145 CSTB skos:exactMatch hgnc.symbol:2482 semapv:UnspecifiedMatching -OMIM:601145 CSTB skos:exactMatch hgnc.symbol:CSTB semapv:UnspecifiedMatching -OMIM:601145 CSTB skos:exactMatch ncbigene:1476 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C1333666 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C1832702 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C2930970 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C3554446 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:4220 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:GDF5 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch ncbigene:8200 semapv:UnspecifiedMatching -OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:4221 semapv:UnspecifiedMatching -OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:GDF6 semapv:UnspecifiedMatching -OMIM:601147 GDF6 skos:exactMatch ncbigene:392255 semapv:UnspecifiedMatching -OMIM:601148 SMCP skos:exactMatch hgnc.symbol:6962 semapv:UnspecifiedMatching -OMIM:601148 SMCP skos:exactMatch hgnc.symbol:SMCP semapv:UnspecifiedMatching -OMIM:601148 SMCP skos:exactMatch ncbigene:4184 semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch UMLS:C1415878 semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:5384 semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:IDH3A semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch ncbigene:3419 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch UMLS:C1413953 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:2736 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:DDX11 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch ncbigene:1663 semapv:UnspecifiedMatching -OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch UMLS:C1413954 semapv:UnspecifiedMatching -OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:2737 semapv:UnspecifiedMatching -OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:DDX12P semapv:UnspecifiedMatching -OMIM:601153 FHIT skos:exactMatch hgnc.symbol:3701 semapv:UnspecifiedMatching -OMIM:601153 FHIT skos:exactMatch hgnc.symbol:FHIT semapv:UnspecifiedMatching -OMIM:601153 FHIT skos:exactMatch ncbigene:2272 semapv:UnspecifiedMatching -OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:17102 semapv:UnspecifiedMatching -OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:ARHGAP45 semapv:UnspecifiedMatching -OMIM:601155 HMHA1 skos:exactMatch ncbigene:23526 semapv:UnspecifiedMatching -OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:10610 semapv:UnspecifiedMatching -OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:CCL11 semapv:UnspecifiedMatching -OMIM:601156 CCL11 skos:exactMatch ncbigene:6356 semapv:UnspecifiedMatching -OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:2763 semapv:UnspecifiedMatching -OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:DEFA4 semapv:UnspecifiedMatching -OMIM:601157 DEFA4 skos:exactMatch ncbigene:1669 semapv:UnspecifiedMatching -OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:6881 semapv:UnspecifiedMatching -OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:MAPK8 semapv:UnspecifiedMatching -OMIM:601158 MAPK8 skos:exactMatch ncbigene:5599 semapv:UnspecifiedMatching -OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:1602 semapv:UnspecifiedMatching -OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:CCR1 semapv:UnspecifiedMatching -OMIM:601159 CCR1 skos:exactMatch ncbigene:1230 semapv:UnspecifiedMatching -OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:4469 semapv:UnspecifiedMatching -OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:GPR15 semapv:UnspecifiedMatching -OMIM:601166 GPR15 skos:exactMatch ncbigene:2838 semapv:UnspecifiedMatching -OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:8539 semapv:UnspecifiedMatching -OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:P2RY1 semapv:UnspecifiedMatching -OMIM:601167 P2RY1 skos:exactMatch ncbigene:5028 semapv:UnspecifiedMatching -OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:3015 semapv:UnspecifiedMatching -OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:DPYSL3 semapv:UnspecifiedMatching -OMIM:601168 DPYSL3 skos:exactMatch ncbigene:1809 semapv:UnspecifiedMatching -OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:2466 semapv:UnspecifiedMatching -OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:CSPG4 semapv:UnspecifiedMatching -OMIM:601172 CSPG4 skos:exactMatch ncbigene:1464 semapv:UnspecifiedMatching -OMIM:601175 ARL2 skos:exactMatch UMLS:C1412537 semapv:UnspecifiedMatching -OMIM:601175 ARL2 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching -OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:693 semapv:UnspecifiedMatching -OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:ARL2 semapv:UnspecifiedMatching -OMIM:601175 ARL2 skos:exactMatch ncbigene:402 semapv:UnspecifiedMatching -OMIM:601176 GCLM skos:exactMatch hgnc.symbol:4312 semapv:UnspecifiedMatching -OMIM:601176 GCLM skos:exactMatch hgnc.symbol:GCLM semapv:UnspecifiedMatching -OMIM:601176 GCLM skos:exactMatch ncbigene:2730 semapv:UnspecifiedMatching -OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:655 semapv:UnspecifiedMatching -OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:ARF4 semapv:UnspecifiedMatching -OMIM:601177 ARF4 skos:exactMatch ncbigene:378 semapv:UnspecifiedMatching -OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:6743 semapv:UnspecifiedMatching -OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:CAPRIN1 semapv:UnspecifiedMatching -OMIM:601178 CAPRIN1 skos:exactMatch ncbigene:4076 semapv:UnspecifiedMatching -OMIM:601179 RAN skos:exactMatch hgnc.symbol:9846 semapv:UnspecifiedMatching -OMIM:601179 RAN skos:exactMatch hgnc.symbol:RAN semapv:UnspecifiedMatching -OMIM:601179 RAN skos:exactMatch ncbigene:5901 semapv:UnspecifiedMatching -OMIM:601180 RANBP1 skos:exactMatch hgnc.symbol:9847 semapv:UnspecifiedMatching -OMIM:601180 RANBP1 skos:exactMatch hgnc.symbol:RANBP1 semapv:UnspecifiedMatching -OMIM:601180 RANBP1 skos:exactMatch ncbigene:5902 semapv:UnspecifiedMatching -OMIM:601181 RANBP2 skos:exactMatch hgnc.symbol:9848 semapv:UnspecifiedMatching -OMIM:601181 RANBP2 skos:exactMatch hgnc.symbol:RANBP2 semapv:UnspecifiedMatching -OMIM:601181 RANBP2 skos:exactMatch ncbigene:5903 semapv:UnspecifiedMatching -OMIM:601182 ORC2 skos:exactMatch hgnc.symbol:8488 semapv:UnspecifiedMatching -OMIM:601182 ORC2 skos:exactMatch hgnc.symbol:ORC2 semapv:UnspecifiedMatching -OMIM:601182 ORC2 skos:exactMatch ncbigene:4999 semapv:UnspecifiedMatching -OMIM:601183 CRIP2 skos:exactMatch hgnc.symbol:2361 semapv:UnspecifiedMatching -OMIM:601183 CRIP2 skos:exactMatch hgnc.symbol:CRIP2 semapv:UnspecifiedMatching -OMIM:601183 CRIP2 skos:exactMatch ncbigene:1397 semapv:UnspecifiedMatching -OMIM:601184 DNAJC3 skos:exactMatch hgnc.symbol:9439 semapv:UnspecifiedMatching -OMIM:601184 DNAJC3 skos:exactMatch hgnc.symbol:DNAJC3 semapv:UnspecifiedMatching -OMIM:601184 DNAJC3 skos:exactMatch ncbigene:5611 semapv:UnspecifiedMatching -OMIM:601185 STC1 skos:exactMatch hgnc.symbol:11373 semapv:UnspecifiedMatching -OMIM:601185 STC1 skos:exactMatch hgnc.symbol:STC1 semapv:UnspecifiedMatching -OMIM:601185 STC1 skos:exactMatch ncbigene:6781 semapv:UnspecifiedMatching -OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:9199 semapv:UnspecifiedMatching -OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:POLR2L semapv:UnspecifiedMatching -OMIM:601189 POLR2L skos:exactMatch ncbigene:5441 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch UMLS:C1418430 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch UMLS:C1864900 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch UMLS:C3552227 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:8790 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:PDE6H semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch ncbigene:5149 semapv:UnspecifiedMatching -OMIM:601191 ERH skos:exactMatch UMLS:C1414443 semapv:UnspecifiedMatching -OMIM:601191 ERH skos:exactMatch hgnc.symbol:3447 semapv:UnspecifiedMatching -OMIM:601191 ERH skos:exactMatch hgnc.symbol:ERH semapv:UnspecifiedMatching -OMIM:601191 ERH skos:exactMatch ncbigene:2079 semapv:UnspecifiedMatching -OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:9038 semapv:UnspecifiedMatching -OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:PLA2G5 semapv:UnspecifiedMatching -OMIM:601192 PLA2G5 skos:exactMatch ncbigene:5322 semapv:UnspecifiedMatching -OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:304 semapv:UnspecifiedMatching -OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:CRISP1 semapv:UnspecifiedMatching -OMIM:601193 CRISP1 skos:exactMatch ncbigene:167 semapv:UnspecifiedMatching -OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:11847 semapv:UnspecifiedMatching -OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:TLR1 semapv:UnspecifiedMatching -OMIM:601194 TLR1 skos:exactMatch ncbigene:7096 semapv:UnspecifiedMatching -OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:9347 semapv:UnspecifiedMatching -OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:PRDM2 semapv:UnspecifiedMatching -OMIM:601196 PRDM2 skos:exactMatch ncbigene:7799 semapv:UnspecifiedMatching -OMIM:601197 TUB skos:exactMatch hgnc.symbol:12406 semapv:UnspecifiedMatching -OMIM:601197 TUB skos:exactMatch hgnc.symbol:TUB semapv:UnspecifiedMatching -OMIM:601197 TUB skos:exactMatch ncbigene:7275 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:428 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C3715128 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C4048195 semapv:UnspecifiedMatching -OMIM:601199 CASR skos:exactMatch hgnc.symbol:1514 semapv:UnspecifiedMatching -OMIM:601199 CASR skos:exactMatch hgnc.symbol:CASR semapv:UnspecifiedMatching -OMIM:601199 CASR skos:exactMatch ncbigene:846 semapv:UnspecifiedMatching -OMIM:601201 methylation modifier for class 1 hla skos:exactMatch ncbigene:7795 semapv:UnspecifiedMatching -OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:5998 semapv:UnspecifiedMatching -OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:IL1RL1 semapv:UnspecifiedMatching -OMIM:601203 IL1RL1 skos:exactMatch ncbigene:9173 semapv:UnspecifiedMatching -OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:9601 semapv:UnspecifiedMatching -OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:PTGFRN semapv:UnspecifiedMatching -OMIM:601204 PTGFRN skos:exactMatch ncbigene:5738 semapv:UnspecifiedMatching -OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:10887 semapv:UnspecifiedMatching -OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:SIX1 semapv:UnspecifiedMatching -OMIM:601205 SIX1 skos:exactMatch ncbigene:6495 semapv:UnspecifiedMatching -OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:9211 semapv:UnspecifiedMatching -OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:POU2AF1 semapv:UnspecifiedMatching -OMIM:601206 POU2AF1 skos:exactMatch ncbigene:5450 semapv:UnspecifiedMatching -OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:2856 semapv:UnspecifiedMatching -OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:DGKQ semapv:UnspecifiedMatching -OMIM:601207 DGKQ skos:exactMatch ncbigene:1609 semapv:UnspecifiedMatching -OMIM:601208 iia 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching -OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:8647 semapv:UnspecifiedMatching -OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:PCBP1 semapv:UnspecifiedMatching -OMIM:601209 PCBP1 skos:exactMatch ncbigene:5093 semapv:UnspecifiedMatching -OMIM:601210 PCBP2 skos:exactMatch hgnc.symbol:8648 semapv:UnspecifiedMatching -OMIM:601210 PCBP2 skos:exactMatch hgnc.symbol:PCBP2 semapv:UnspecifiedMatching -OMIM:601210 PCBP2 skos:exactMatch ncbigene:5094 semapv:UnspecifiedMatching -OMIM:601211 ADGRE5 skos:exactMatch hgnc.symbol:1711 semapv:UnspecifiedMatching -OMIM:601211 ADGRE5 skos:exactMatch hgnc.symbol:ADGRE5 semapv:UnspecifiedMatching -OMIM:601211 ADGRE5 skos:exactMatch ncbigene:976 semapv:UnspecifiedMatching -OMIM:601212 PTK2B skos:exactMatch hgnc.symbol:9612 semapv:UnspecifiedMatching -OMIM:601212 PTK2B skos:exactMatch hgnc.symbol:PTK2B semapv:UnspecifiedMatching -OMIM:601212 PTK2B skos:exactMatch ncbigene:2185 semapv:UnspecifiedMatching -OMIM:601213 RNS4I skos:exactMatch hgnc.symbol:69 semapv:UnspecifiedMatching -OMIM:601213 RNS4I skos:exactMatch hgnc.symbol:ABCE1 semapv:UnspecifiedMatching -OMIM:601213 RNS4I skos:exactMatch ncbigene:6059 semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch UMLS:C1332120 semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch hgnc.symbol:882 semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch hgnc.symbol:ATR semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch ncbigene:545 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch UMLS:C1412216 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:226 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:ADARB1 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch ncbigene:104 semapv:UnspecifiedMatching -OMIM:601224 potocki-shaffer syndrome skos:exactMatch Orphanet:52022 semapv:UnspecifiedMatching -OMIM:601224 potocki-shaffer syndrome skos:exactMatch UMLS:C1832588 semapv:UnspecifiedMatching -OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:3085 semapv:UnspecifiedMatching -OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:DVL1P1 semapv:UnspecifiedMatching -OMIM:601225 DVL1L1 skos:exactMatch ncbigene:8215 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch UMLS:C1414805 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch UMLS:C4225259 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch hgnc.symbol:3942 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch hgnc.symbol:MTOR semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch ncbigene:2475 semapv:UnspecifiedMatching -OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:8978 semapv:UnspecifiedMatching -OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:PIK3CG semapv:UnspecifiedMatching -OMIM:601232 PIK3CG skos:exactMatch ncbigene:5294 semapv:UnspecifiedMatching -OMIM:601233 INHBC skos:exactMatch hgnc.symbol:6068 semapv:UnspecifiedMatching -OMIM:601233 INHBC skos:exactMatch hgnc.symbol:INHBC semapv:UnspecifiedMatching -OMIM:601233 INHBC skos:exactMatch ncbigene:3626 semapv:UnspecifiedMatching -OMIM:601234 NACA skos:exactMatch hgnc.symbol:7629 semapv:UnspecifiedMatching -OMIM:601234 NACA skos:exactMatch hgnc.symbol:NACA semapv:UnspecifiedMatching -OMIM:601234 NACA skos:exactMatch ncbigene:4666 semapv:UnspecifiedMatching -OMIM:601235 DDX10 skos:exactMatch UMLS:C1413952 semapv:UnspecifiedMatching -OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:2735 semapv:UnspecifiedMatching -OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:DDX10 semapv:UnspecifiedMatching -OMIM:601235 DDX10 skos:exactMatch ncbigene:1662 semapv:UnspecifiedMatching -OMIM:601236 DAB2 skos:exactMatch hgnc.symbol:2662 semapv:UnspecifiedMatching -OMIM:601236 DAB2 skos:exactMatch hgnc.symbol:DAB2 semapv:UnspecifiedMatching -OMIM:601236 DAB2 skos:exactMatch ncbigene:1601 semapv:UnspecifiedMatching -OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:12968 semapv:UnspecifiedMatching -OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:RNF112 semapv:UnspecifiedMatching -OMIM:601237 RNF112 skos:exactMatch ncbigene:7732 semapv:UnspecifiedMatching -OMIM:601239 DTNA skos:exactMatch hgnc.symbol:3057 semapv:UnspecifiedMatching -OMIM:601239 DTNA skos:exactMatch hgnc.symbol:DTNA semapv:UnspecifiedMatching -OMIM:601239 DTNA skos:exactMatch ncbigene:1837 semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch UMLS:C1414963 semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch hgnc.symbol:4136 semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch hgnc.symbol:GAMT semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch ncbigene:2593 semapv:UnspecifiedMatching -OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:4852 semapv:UnspecifiedMatching -OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:HDAC1 semapv:UnspecifiedMatching -OMIM:601241 HDAC1 skos:exactMatch ncbigene:3065 semapv:UnspecifiedMatching -OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:6838 semapv:UnspecifiedMatching -OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:MAP1LC3A semapv:UnspecifiedMatching -OMIM:601242 MAP1LC3A skos:exactMatch ncbigene:84557 semapv:UnspecifiedMatching -OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:11992 semapv:UnspecifiedMatching -OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:TOP3A semapv:UnspecifiedMatching -OMIM:601243 TOP3A skos:exactMatch ncbigene:7156 semapv:UnspecifiedMatching -OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:4684 semapv:UnspecifiedMatching -OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:GUCY1A2 semapv:UnspecifiedMatching -OMIM:601244 GUCY1A2 skos:exactMatch ncbigene:2977 semapv:UnspecifiedMatching -OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:1911 semapv:UnspecifiedMatching -OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:CHAF1B semapv:UnspecifiedMatching -OMIM:601245 CHAF1B skos:exactMatch ncbigene:8208 semapv:UnspecifiedMatching -OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:1910 semapv:UnspecifiedMatching -OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:CHAF1A semapv:UnspecifiedMatching -OMIM:601246 CHAF1A skos:exactMatch ncbigene:10036 semapv:UnspecifiedMatching -OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:11188 semapv:UnspecifiedMatching -OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:SOS2 semapv:UnspecifiedMatching -OMIM:601247 SOS2 skos:exactMatch ncbigene:6655 semapv:UnspecifiedMatching -OMIM:601248 BIN1 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching -OMIM:601248 BIN1 skos:exactMatch UMLS:C1332412 semapv:UnspecifiedMatching -OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:1052 semapv:UnspecifiedMatching -OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:BIN1 semapv:UnspecifiedMatching -OMIM:601248 BIN1 skos:exactMatch ncbigene:274 semapv:UnspecifiedMatching -OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:9466 semapv:UnspecifiedMatching -OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:PRPSAP1 semapv:UnspecifiedMatching -OMIM:601249 PRPSAP1 skos:exactMatch ncbigene:5635 semapv:UnspecifiedMatching -OMIM:601250 MSRA skos:exactMatch hgnc.symbol:7377 semapv:UnspecifiedMatching -OMIM:601250 MSRA skos:exactMatch hgnc.symbol:MSRA semapv:UnspecifiedMatching -OMIM:601250 MSRA skos:exactMatch ncbigene:4482 semapv:UnspecifiedMatching -OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:3623 semapv:UnspecifiedMatching -OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:FCN1 semapv:UnspecifiedMatching -OMIM:601252 FCN1 skos:exactMatch ncbigene:2219 semapv:UnspecifiedMatching -OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:1529 semapv:UnspecifiedMatching -OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:CAV3 semapv:UnspecifiedMatching -OMIM:601253 CAV3 skos:exactMatch ncbigene:859 semapv:UnspecifiedMatching -OMIM:601254 MAP2K6 skos:exactMatch UMLS:C1334475 semapv:UnspecifiedMatching -OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:6846 semapv:UnspecifiedMatching -OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:MAP2K6 semapv:UnspecifiedMatching -OMIM:601254 MAP2K6 skos:exactMatch ncbigene:5608 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C1412698 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C1835896 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C3280168 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:888 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:KIF1A semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch ncbigene:547 semapv:UnspecifiedMatching -OMIM:601257 DDX1 skos:exactMatch UMLS:C1333209 semapv:UnspecifiedMatching -OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:2734 semapv:UnspecifiedMatching -OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:DDX1 semapv:UnspecifiedMatching -OMIM:601257 DDX1 skos:exactMatch ncbigene:1653 semapv:UnspecifiedMatching -OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:2634 semapv:UnspecifiedMatching -OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:CYP2J2 semapv:UnspecifiedMatching -OMIM:601258 CYP2J2 skos:exactMatch ncbigene:1573 semapv:UnspecifiedMatching -OMIM:601259 AMBN skos:exactMatch hgnc.symbol:452 semapv:UnspecifiedMatching -OMIM:601259 AMBN skos:exactMatch hgnc.symbol:AMBN semapv:UnspecifiedMatching -OMIM:601259 AMBN skos:exactMatch ncbigene:258 semapv:UnspecifiedMatching -OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:13101 semapv:UnspecifiedMatching -OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:ZKSCAN1 semapv:UnspecifiedMatching -OMIM:601260 ZKSCAN1 skos:exactMatch ncbigene:7586 semapv:UnspecifiedMatching -OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:13104 semapv:UnspecifiedMatching -OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:ZSCAN21 semapv:UnspecifiedMatching -OMIM:601261 ZSCAN21 skos:exactMatch ncbigene:7589 semapv:UnspecifiedMatching -OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:12947 semapv:UnspecifiedMatching -OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:ZNF16 semapv:UnspecifiedMatching -OMIM:601262 ZNF16 skos:exactMatch ncbigene:7564 semapv:UnspecifiedMatching -OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:6842 semapv:UnspecifiedMatching -OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:MAP2K2 semapv:UnspecifiedMatching -OMIM:601263 MAP2K2 skos:exactMatch ncbigene:5605 semapv:UnspecifiedMatching -OMIM:601265 NODAL skos:exactMatch hgnc.symbol:7865 semapv:UnspecifiedMatching -OMIM:601265 NODAL skos:exactMatch hgnc.symbol:NODAL semapv:UnspecifiedMatching -OMIM:601265 NODAL skos:exactMatch ncbigene:4838 semapv:UnspecifiedMatching -OMIM:601266 DUT skos:exactMatch hgnc.symbol:3078 semapv:UnspecifiedMatching -OMIM:601266 DUT skos:exactMatch hgnc.symbol:DUT semapv:UnspecifiedMatching -OMIM:601266 DUT skos:exactMatch ncbigene:1854 semapv:UnspecifiedMatching -OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:1603 semapv:UnspecifiedMatching -OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:CCR2 semapv:UnspecifiedMatching -OMIM:601267 CCR2 skos:exactMatch ncbigene:729230 semapv:UnspecifiedMatching -OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:1604 semapv:UnspecifiedMatching -OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:CCR3 semapv:UnspecifiedMatching -OMIM:601268 CCR3 skos:exactMatch ncbigene:1232 semapv:UnspecifiedMatching -OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:1243 semapv:UnspecifiedMatching -OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:C1QBP semapv:UnspecifiedMatching -OMIM:601269 C1QBP skos:exactMatch ncbigene:708 semapv:UnspecifiedMatching -OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:2646 semapv:UnspecifiedMatching -OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:CYP4F3 semapv:UnspecifiedMatching -OMIM:601270 CYP4F3 skos:exactMatch ncbigene:4051 semapv:UnspecifiedMatching -OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:4683 semapv:UnspecifiedMatching -OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:GUCA2B semapv:UnspecifiedMatching -OMIM:601271 GUCA2B skos:exactMatch ncbigene:2981 semapv:UnspecifiedMatching -OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:11172 semapv:UnspecifiedMatching -OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:SNX1 semapv:UnspecifiedMatching -OMIM:601272 SNX1 skos:exactMatch ncbigene:6642 semapv:UnspecifiedMatching -OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:2093 semapv:UnspecifiedMatching -OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:CLTCL1 semapv:UnspecifiedMatching -OMIM:601273 CLTCL1 skos:exactMatch ncbigene:8218 semapv:UnspecifiedMatching -OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:18429 semapv:UnspecifiedMatching -OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:PTGR1 semapv:UnspecifiedMatching -OMIM:601274 PTGR1 skos:exactMatch ncbigene:22949 semapv:UnspecifiedMatching -OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:4460 semapv:UnspecifiedMatching -OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:GPM6A semapv:UnspecifiedMatching -OMIM:601275 GPM6A skos:exactMatch ncbigene:2823 semapv:UnspecifiedMatching -OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:12966 semapv:UnspecifiedMatching -OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:ZNF177 semapv:UnspecifiedMatching -OMIM:601276 ZNF177 skos:exactMatch ncbigene:7730 semapv:UnspecifiedMatching -OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:3954 semapv:UnspecifiedMatching -OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:FRG1 semapv:UnspecifiedMatching -OMIM:601278 FRG1 skos:exactMatch ncbigene:2483 semapv:UnspecifiedMatching -OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:2846 semapv:UnspecifiedMatching -OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:DGCR6 semapv:UnspecifiedMatching -OMIM:601279 DGCR6 skos:exactMatch ncbigene:8214 semapv:UnspecifiedMatching -OMIM:601280 MAB21L1 skos:exactMatch hgnc.symbol:6757 semapv:UnspecifiedMatching -OMIM:601280 MAB21L1 skos:exactMatch hgnc.symbol:MAB21L1 semapv:UnspecifiedMatching -OMIM:601280 MAB21L1 skos:exactMatch ncbigene:4081 semapv:UnspecifiedMatching -OMIM:601281 SEMA3B skos:exactMatch hgnc.symbol:10724 semapv:UnspecifiedMatching -OMIM:601281 SEMA3B skos:exactMatch hgnc.symbol:SEMA3B semapv:UnspecifiedMatching -OMIM:601281 SEMA3B skos:exactMatch ncbigene:7869 semapv:UnspecifiedMatching -OMIM:601282 PLEC skos:exactMatch hgnc.symbol:9069 semapv:UnspecifiedMatching -OMIM:601282 PLEC skos:exactMatch hgnc.symbol:PLEC semapv:UnspecifiedMatching -OMIM:601282 PLEC skos:exactMatch ncbigene:5339 semapv:UnspecifiedMatching -OMIM:601283 iia 2 diabetes mellitus 1 skos:exactMatch UMLS:C1832544 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1366767 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1832529 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1838163 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch hgnc.symbol:175 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch hgnc.symbol:ACVRL1 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch ncbigene:94 semapv:UnspecifiedMatching -OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:10845 semapv:UnspecifiedMatching -OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:SEM1 semapv:UnspecifiedMatching -OMIM:601285 SEM1 skos:exactMatch ncbigene:7979 semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch UMLS:C1421564 semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:12855 semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:YWHAZ semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch ncbigene:7534 semapv:UnspecifiedMatching -OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:12849 semapv:UnspecifiedMatching -OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:YWHAB semapv:UnspecifiedMatching -OMIM:601289 YWHAB skos:exactMatch ncbigene:7529 semapv:UnspecifiedMatching -OMIM:601290 SFN skos:exactMatch hgnc.symbol:10773 semapv:UnspecifiedMatching -OMIM:601290 SFN skos:exactMatch hgnc.symbol:SFN semapv:UnspecifiedMatching -OMIM:601290 SFN skos:exactMatch ncbigene:2810 semapv:UnspecifiedMatching -OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:12555 semapv:UnspecifiedMatching -OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:UGT8 semapv:UnspecifiedMatching -OMIM:601291 UGT8 skos:exactMatch ncbigene:7368 semapv:UnspecifiedMatching -OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:11454 semapv:UnspecifiedMatching -OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:SULT1A2 semapv:UnspecifiedMatching -OMIM:601292 SULT1A2 skos:exactMatch ncbigene:6799 semapv:UnspecifiedMatching -OMIM:601293 RHEB skos:exactMatch hgnc.symbol:10011 semapv:UnspecifiedMatching -OMIM:601293 RHEB skos:exactMatch hgnc.symbol:RHEB semapv:UnspecifiedMatching -OMIM:601293 RHEB skos:exactMatch ncbigene:6009 semapv:UnspecifiedMatching -OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:10906 semapv:UnspecifiedMatching -OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:SLC10A2 semapv:UnspecifiedMatching -OMIM:601295 SLC10A2 skos:exactMatch ncbigene:6555 semapv:UnspecifiedMatching -OMIM:601296 MUSK skos:exactMatch hgnc.symbol:7525 semapv:UnspecifiedMatching -OMIM:601296 MUSK skos:exactMatch hgnc.symbol:MUSK semapv:UnspecifiedMatching -OMIM:601296 MUSK skos:exactMatch ncbigene:4593 semapv:UnspecifiedMatching -OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:11196 semapv:UnspecifiedMatching -OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:SOX15 semapv:UnspecifiedMatching -OMIM:601297 SOX15 skos:exactMatch ncbigene:6665 semapv:UnspecifiedMatching -OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:1076 semapv:UnspecifiedMatching -OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:BMPR1A semapv:UnspecifiedMatching -OMIM:601299 BMPR1A skos:exactMatch ncbigene:657 semapv:UnspecifiedMatching -OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:172 semapv:UnspecifiedMatching -OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:ACVR1B semapv:UnspecifiedMatching -OMIM:601300 ACVR1B skos:exactMatch ncbigene:91 semapv:UnspecifiedMatching -OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:9260 semapv:UnspecifiedMatching -OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:PPIL1 semapv:UnspecifiedMatching -OMIM:601301 PPIL1 skos:exactMatch ncbigene:51645 semapv:UnspecifiedMatching -OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:9317 semapv:UnspecifiedMatching -OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:PPP3R1 semapv:UnspecifiedMatching -OMIM:601302 PPP3R1 skos:exactMatch ncbigene:5534 semapv:UnspecifiedMatching -OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:1989 semapv:UnspecifiedMatching -OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:TBCB semapv:UnspecifiedMatching -OMIM:601303 CKAP1 skos:exactMatch ncbigene:1155 semapv:UnspecifiedMatching -OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:7819 semapv:UnspecifiedMatching -OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:SNU13 semapv:UnspecifiedMatching -OMIM:601304 SNU13 skos:exactMatch ncbigene:4809 semapv:UnspecifiedMatching -OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:5300 semapv:UnspecifiedMatching -OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:HTR5A semapv:UnspecifiedMatching -OMIM:601305 HTR5A skos:exactMatch ncbigene:3361 semapv:UnspecifiedMatching -OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:4844 semapv:UnspecifiedMatching -OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:HCLS1 semapv:UnspecifiedMatching -OMIM:601306 HCLS1 skos:exactMatch ncbigene:3059 semapv:UnspecifiedMatching -OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:9585 semapv:UnspecifiedMatching -OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:PTCH1 semapv:UnspecifiedMatching -OMIM:601309 PTCH1 skos:exactMatch ncbigene:5727 semapv:UnspecifiedMatching -OMIM:601310 CYP4A11 skos:exactMatch hgnc.symbol:2642 semapv:UnspecifiedMatching -OMIM:601310 CYP4A11 skos:exactMatch hgnc.symbol:CYP4A11 semapv:UnspecifiedMatching -OMIM:601310 CYP4A11 skos:exactMatch ncbigene:1579 semapv:UnspecifiedMatching -OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:11178 semapv:UnspecifiedMatching -OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:SOAT2 semapv:UnspecifiedMatching -OMIM:601311 SOAT2 skos:exactMatch ncbigene:8435 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch UMLS:C1418599 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch UMLS:C4016726 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:9008 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:PKD1 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch ncbigene:5310 semapv:UnspecifiedMatching -OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:4912 semapv:UnspecifiedMatching -OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:HINT1 semapv:UnspecifiedMatching -OMIM:601314 HINT1 skos:exactMatch ncbigene:3094 semapv:UnspecifiedMatching -OMIM:601318 iia 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching -OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:8043 semapv:UnspecifiedMatching -OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:NUCB1 semapv:UnspecifiedMatching -OMIM:601323 NUCB1 skos:exactMatch ncbigene:4924 semapv:UnspecifiedMatching -OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:5036 semapv:UnspecifiedMatching -OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:HNRNPD semapv:UnspecifiedMatching -OMIM:601324 HNRNPD skos:exactMatch ncbigene:3184 semapv:UnspecifiedMatching -OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:2173 semapv:UnspecifiedMatching -OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:CNTN3 semapv:UnspecifiedMatching -OMIM:601325 CNTN3 skos:exactMatch ncbigene:5067 semapv:UnspecifiedMatching -OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:8514 semapv:UnspecifiedMatching -OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:CLDN11 semapv:UnspecifiedMatching -OMIM:601326 CLDN11 skos:exactMatch ncbigene:5010 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch UMLS:C1419860 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch UMLS:C3809312 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:10589 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:SCN2B semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch ncbigene:6327 semapv:UnspecifiedMatching -OMIM:601328 SCNN1D skos:exactMatch UMLS:C1419870 semapv:UnspecifiedMatching -OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:10601 semapv:UnspecifiedMatching -OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:SCNN1D semapv:UnspecifiedMatching -OMIM:601328 SCNN1D skos:exactMatch ncbigene:6339 semapv:UnspecifiedMatching -OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:6613 semapv:UnspecifiedMatching -OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:LIMK1 semapv:UnspecifiedMatching -OMIM:601329 LIMK1 skos:exactMatch ncbigene:3984 semapv:UnspecifiedMatching -OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:4688 semapv:UnspecifiedMatching -OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:GUCY2C semapv:UnspecifiedMatching -OMIM:601330 GUCY2C skos:exactMatch ncbigene:2984 semapv:UnspecifiedMatching -OMIM:601332 MKX skos:exactMatch hgnc.symbol:23729 semapv:UnspecifiedMatching -OMIM:601332 MKX skos:exactMatch hgnc.symbol:MKX semapv:UnspecifiedMatching -OMIM:601332 MKX skos:exactMatch ncbigene:283078 semapv:UnspecifiedMatching -OMIM:601333 SUPT6H skos:exactMatch UMLS:C0812269 semapv:UnspecifiedMatching -OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:11470 semapv:UnspecifiedMatching -OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:SUPT6H semapv:UnspecifiedMatching -OMIM:601333 SUPT6H skos:exactMatch ncbigene:6830 semapv:UnspecifiedMatching -OMIM:601334 KLC3 skos:exactMatch hgnc.symbol:20717 semapv:UnspecifiedMatching -OMIM:601334 KLC3 skos:exactMatch hgnc.symbol:KLC3 semapv:UnspecifiedMatching -OMIM:601334 KLC3 skos:exactMatch ncbigene:147700 semapv:UnspecifiedMatching -OMIM:601335 MAP2K4 skos:exactMatch hgnc.symbol:6844 semapv:UnspecifiedMatching -OMIM:601335 MAP2K4 skos:exactMatch hgnc.symbol:MAP2K4 semapv:UnspecifiedMatching -OMIM:601335 MAP2K4 skos:exactMatch ncbigene:6416 semapv:UnspecifiedMatching -OMIM:601336 MOGS skos:exactMatch hgnc.symbol:24862 semapv:UnspecifiedMatching -OMIM:601336 MOGS skos:exactMatch hgnc.symbol:MOGS semapv:UnspecifiedMatching -OMIM:601336 MOGS skos:exactMatch ncbigene:7841 semapv:UnspecifiedMatching -OMIM:601337 RFX3 skos:exactMatch UMLS:C1419361 semapv:UnspecifiedMatching -OMIM:601337 RFX3 skos:exactMatch hgnc.symbol:9984 semapv:UnspecifiedMatching -OMIM:601337 RFX3 skos:exactMatch hgnc.symbol:RFX3 semapv:UnspecifiedMatching -OMIM:601337 RFX3 skos:exactMatch ncbigene:5991 semapv:UnspecifiedMatching -OMIM:601340 MIA skos:exactMatch hgnc.symbol:7076 semapv:UnspecifiedMatching -OMIM:601340 MIA skos:exactMatch hgnc.symbol:MIA semapv:UnspecifiedMatching -OMIM:601340 MIA skos:exactMatch ncbigene:8190 semapv:UnspecifiedMatching -OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:2431 semapv:UnspecifiedMatching -OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:CSE1L semapv:UnspecifiedMatching -OMIM:601342 CSE1L skos:exactMatch ncbigene:1434 semapv:UnspecifiedMatching -OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch Orphanet:1027 semapv:UnspecifiedMatching -OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching -OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:4215 semapv:UnspecifiedMatching -OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:GDF10 semapv:UnspecifiedMatching -OMIM:601361 GDF10 skos:exactMatch ncbigene:2662 semapv:UnspecifiedMatching -OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:1753 semapv:UnspecifiedMatching -OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:CDH13 semapv:UnspecifiedMatching -OMIM:601364 CDH13 skos:exactMatch ncbigene:1012 semapv:UnspecifiedMatching -OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:3084 semapv:UnspecifiedMatching -OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:DVL1 semapv:UnspecifiedMatching -OMIM:601365 DVL1 skos:exactMatch ncbigene:1855 semapv:UnspecifiedMatching -OMIM:601366 SMAD2 skos:exactMatch UMLS:C1334468 semapv:UnspecifiedMatching -OMIM:601366 SMAD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:6768 semapv:UnspecifiedMatching -OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:SMAD2 semapv:UnspecifiedMatching -OMIM:601366 SMAD2 skos:exactMatch ncbigene:4087 semapv:UnspecifiedMatching -OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:3087 semapv:UnspecifiedMatching -OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:DVL3 semapv:UnspecifiedMatching -OMIM:601368 DVL3 skos:exactMatch ncbigene:1857 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C1332700 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C1835867 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C1836031 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C1836230 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C2677247 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016727 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016728 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016729 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016730 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4016731 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch UMLS:C4017844 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:1606 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:CCR5 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch ncbigene:1234 semapv:UnspecifiedMatching -OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:3224 semapv:UnspecifiedMatching -OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:EFNA4 semapv:UnspecifiedMatching -OMIM:601380 EFNA4 skos:exactMatch ncbigene:1945 semapv:UnspecifiedMatching -OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:3223 semapv:UnspecifiedMatching -OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:EFNA3 semapv:UnspecifiedMatching -OMIM:601381 EFNA3 skos:exactMatch ncbigene:1944 semapv:UnspecifiedMatching -OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:639 semapv:UnspecifiedMatching -OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:AQP6 semapv:UnspecifiedMatching -OMIM:601383 AQP6 skos:exactMatch ncbigene:363 semapv:UnspecifiedMatching -OMIM:601384 LY6E skos:exactMatch hgnc.symbol:6727 semapv:UnspecifiedMatching -OMIM:601384 LY6E skos:exactMatch hgnc.symbol:LY6E semapv:UnspecifiedMatching -OMIM:601384 LY6E skos:exactMatch ncbigene:4061 semapv:UnspecifiedMatching -OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:30242 semapv:UnspecifiedMatching -OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:TUSC3 semapv:UnspecifiedMatching -OMIM:601385 TUSC3 skos:exactMatch ncbigene:7991 semapv:UnspecifiedMatching -OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:15971 semapv:UnspecifiedMatching -OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:TSG101 semapv:UnspecifiedMatching -OMIM:601387 TSG101 skos:exactMatch ncbigene:7251 semapv:UnspecifiedMatching -OMIM:601388 iia 1 diabetes mellitus 12 skos:exactMatch UMLS:C1832392 semapv:UnspecifiedMatching -OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:10611 semapv:UnspecifiedMatching -OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:CCL13 semapv:UnspecifiedMatching -OMIM:601391 CCL13 skos:exactMatch ncbigene:6357 semapv:UnspecifiedMatching -OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:10612 semapv:UnspecifiedMatching -OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:CCL14 semapv:UnspecifiedMatching -OMIM:601392 CCL14 skos:exactMatch ncbigene:6358 semapv:UnspecifiedMatching -OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:10613 semapv:UnspecifiedMatching -OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:CCL15 semapv:UnspecifiedMatching -OMIM:601393 CCL15 skos:exactMatch ncbigene:6359 semapv:UnspecifiedMatching -OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:10614 semapv:UnspecifiedMatching -OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:CCL16 semapv:UnspecifiedMatching -OMIM:601394 CCL16 skos:exactMatch ncbigene:6360 semapv:UnspecifiedMatching -OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:10628 semapv:UnspecifiedMatching -OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:CCL3L1 semapv:UnspecifiedMatching -OMIM:601395 CCL3L1 skos:exactMatch ncbigene:6349 semapv:UnspecifiedMatching -OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:12789 semapv:UnspecifiedMatching -OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:WNT8B semapv:UnspecifiedMatching -OMIM:601396 WNT8B skos:exactMatch ncbigene:7479 semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch UMLS:C1420562 semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch UMLS:C3810343 semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch hgnc.symbol:11515 semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch hgnc.symbol:TBXT semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch ncbigene:6862 semapv:UnspecifiedMatching -OMIM:601398 VEGFB skos:exactMatch hgnc.symbol:12681 semapv:UnspecifiedMatching -OMIM:601398 VEGFB skos:exactMatch hgnc.symbol:VEGFB semapv:UnspecifiedMatching -OMIM:601398 VEGFB skos:exactMatch ncbigene:7423 semapv:UnspecifiedMatching -OMIM:601401 MLF2 skos:exactMatch hgnc.symbol:7126 semapv:UnspecifiedMatching -OMIM:601401 MLF2 skos:exactMatch hgnc.symbol:MLF2 semapv:UnspecifiedMatching -OMIM:601401 MLF2 skos:exactMatch ncbigene:8079 semapv:UnspecifiedMatching -OMIM:601402 MLF1 skos:exactMatch hgnc.symbol:7125 semapv:UnspecifiedMatching -OMIM:601402 MLF1 skos:exactMatch hgnc.symbol:MLF1 semapv:UnspecifiedMatching -OMIM:601402 MLF1 skos:exactMatch ncbigene:4291 semapv:UnspecifiedMatching -OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:2987 semapv:UnspecifiedMatching -OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:DOCK1 semapv:UnspecifiedMatching -OMIM:601403 DOCK1 skos:exactMatch ncbigene:1793 semapv:UnspecifiedMatching -OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:4519 semapv:UnspecifiedMatching -OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:GPR68 semapv:UnspecifiedMatching -OMIM:601404 GPR68 skos:exactMatch ncbigene:8111 semapv:UnspecifiedMatching -OMIM:601405 CTRC skos:exactMatch hgnc.symbol:2523 semapv:UnspecifiedMatching -OMIM:601405 CTRC skos:exactMatch hgnc.symbol:CTRC semapv:UnspecifiedMatching -OMIM:601405 CTRC skos:exactMatch ncbigene:11330 semapv:UnspecifiedMatching -OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:1004 semapv:UnspecifiedMatching -OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:BCL7A semapv:UnspecifiedMatching -OMIM:601406 BCL7A skos:exactMatch ncbigene:605 semapv:UnspecifiedMatching -OMIM:601407 iia 2 diabetes mellitus 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch UMLS:C1421709 semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:13013 semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:KAT6A semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch ncbigene:7994 semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch UMLS:C1333931 semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:5275 semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:KAT5 semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch ncbigene:10524 semapv:UnspecifiedMatching -OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching -OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch UMLS:C1832386 semapv:UnspecifiedMatching -OMIM:601411 SGCD skos:exactMatch hgnc.symbol:10807 semapv:UnspecifiedMatching -OMIM:601411 SGCD skos:exactMatch hgnc.symbol:SGCD semapv:UnspecifiedMatching -OMIM:601411 SGCD skos:exactMatch ncbigene:6444 semapv:UnspecifiedMatching -OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching -OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:2884 semapv:UnspecifiedMatching -OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:DIO2 semapv:UnspecifiedMatching -OMIM:601413 DIO2 skos:exactMatch ncbigene:1734 semapv:UnspecifiedMatching -OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:7548 semapv:UnspecifiedMatching -OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:MYBL2 semapv:UnspecifiedMatching -OMIM:601415 MYBL2 skos:exactMatch ncbigene:4605 semapv:UnspecifiedMatching -OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:4927 semapv:UnspecifiedMatching -OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:SLC39A7 semapv:UnspecifiedMatching -OMIM:601416 SLC39A7 skos:exactMatch ncbigene:7922 semapv:UnspecifiedMatching -OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:3554 semapv:UnspecifiedMatching -OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:HSD17B8 semapv:UnspecifiedMatching -OMIM:601417 HSD17B8 skos:exactMatch ncbigene:7923 semapv:UnspecifiedMatching -OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:10448 semapv:UnspecifiedMatching -OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:RRBP1 semapv:UnspecifiedMatching -OMIM:601418 RRBP1 skos:exactMatch ncbigene:6238 semapv:UnspecifiedMatching -OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch Orphanet:98909 semapv:UnspecifiedMatching -OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching -OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:6215 semapv:UnspecifiedMatching -OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:KARS1 semapv:UnspecifiedMatching -OMIM:601421 KARS1 skos:exactMatch ncbigene:3735 semapv:UnspecifiedMatching -OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:14985 semapv:UnspecifiedMatching -OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:LUZP1 semapv:UnspecifiedMatching -OMIM:601422 LUZP1 skos:exactMatch ncbigene:7798 semapv:UnspecifiedMatching -OMIM:601423 TDG skos:exactMatch hgnc.symbol:11700 semapv:UnspecifiedMatching -OMIM:601423 TDG skos:exactMatch hgnc.symbol:TDG semapv:UnspecifiedMatching -OMIM:601423 TDG skos:exactMatch ncbigene:6996 semapv:UnspecifiedMatching -OMIM:601424 OXCT1 skos:exactMatch hgnc.symbol:8527 semapv:UnspecifiedMatching -OMIM:601424 OXCT1 skos:exactMatch hgnc.symbol:OXCT1 semapv:UnspecifiedMatching -OMIM:601424 OXCT1 skos:exactMatch ncbigene:5019 semapv:UnspecifiedMatching -OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:11612 semapv:UnspecifiedMatching -OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:TCEA1 semapv:UnspecifiedMatching -OMIM:601425 TCEA1 skos:exactMatch ncbigene:6917 semapv:UnspecifiedMatching -OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:7972 semapv:UnspecifiedMatching -OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:NR2C2 semapv:UnspecifiedMatching -OMIM:601426 NR2C2 skos:exactMatch ncbigene:7182 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1832361 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1846059 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:34016 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:RNU4ATAC semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch ncbigene:100151683 semapv:UnspecifiedMatching -OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:34017 semapv:UnspecifiedMatching -OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:RNU6ATAC semapv:UnspecifiedMatching -OMIM:601429 RNU6ATAC skos:exactMatch ncbigene:100151684 semapv:UnspecifiedMatching -OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:9962 semapv:UnspecifiedMatching -OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:UPF1 semapv:UnspecifiedMatching -OMIM:601430 UPF1 skos:exactMatch ncbigene:5976 semapv:UnspecifiedMatching -OMIM:601431 TRA-TGC7-1 skos:exactMatch UMLS:C1420951 semapv:UnspecifiedMatching -OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:12098 semapv:UnspecifiedMatching -OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:TRA-TGC7-1 semapv:UnspecifiedMatching -OMIM:601431 TRA-TGC7-1 skos:exactMatch ncbigene:7154 semapv:UnspecifiedMatching -OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:12345 semapv:UnspecifiedMatching -OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:TRR-TCG4-1 semapv:UnspecifiedMatching -OMIM:601432 TRR-TCG4-1 skos:exactMatch ncbigene:7232 semapv:UnspecifiedMatching -OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:10899 semapv:UnspecifiedMatching -OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:SKP1 semapv:UnspecifiedMatching -OMIM:601434 SKP1 skos:exactMatch ncbigene:6500 semapv:UnspecifiedMatching -OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:10900 semapv:UnspecifiedMatching -OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:SKP1P2 semapv:UnspecifiedMatching -OMIM:601435 SKP1P2 skos:exactMatch ncbigene:728622 semapv:UnspecifiedMatching -OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:10901 semapv:UnspecifiedMatching -OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:SKP2 semapv:UnspecifiedMatching -OMIM:601436 SKP2 skos:exactMatch ncbigene:6502 semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch UMLS:C1414557 semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:3621 semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:FCGRT semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch ncbigene:2217 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch UMLS:C0795905 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch UMLS:C1412083 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch UMLS:C3279695 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:60 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:ABCC9 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch ncbigene:10060 semapv:UnspecifiedMatching -OMIM:601440 DGKE skos:exactMatch hgnc.symbol:2852 semapv:UnspecifiedMatching -OMIM:601440 DGKE skos:exactMatch hgnc.symbol:DGKE semapv:UnspecifiedMatching -OMIM:601440 DGKE skos:exactMatch ncbigene:8526 semapv:UnspecifiedMatching -OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:2857 semapv:UnspecifiedMatching -OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:DGKZ semapv:UnspecifiedMatching -OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch ncbigene:8525 semapv:UnspecifiedMatching -OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:1874 semapv:UnspecifiedMatching -OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:CFL1 semapv:UnspecifiedMatching -OMIM:601442 CFL1 skos:exactMatch ncbigene:1072 semapv:UnspecifiedMatching -OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:1875 semapv:UnspecifiedMatching -OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:CFL2 semapv:UnspecifiedMatching -OMIM:601443 CFL2 skos:exactMatch ncbigene:1073 semapv:UnspecifiedMatching -OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:4200 semapv:UnspecifiedMatching -OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:BLOC1S1 semapv:UnspecifiedMatching -OMIM:601444 BLOC1S1 skos:exactMatch ncbigene:2647 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch UMLS:C1417641 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch UMLS:C4748803 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:7704 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:NDUFB9 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch ncbigene:4715 semapv:UnspecifiedMatching -OMIM:601447 USP5 skos:exactMatch hgnc.symbol:12628 semapv:UnspecifiedMatching -OMIM:601447 USP5 skos:exactMatch hgnc.symbol:USP5 semapv:UnspecifiedMatching -OMIM:601447 USP5 skos:exactMatch ncbigene:8078 semapv:UnspecifiedMatching -OMIM:601448 NPAT skos:exactMatch hgnc.symbol:7896 semapv:UnspecifiedMatching -OMIM:601448 NPAT skos:exactMatch hgnc.symbol:NPAT semapv:UnspecifiedMatching -OMIM:601448 NPAT skos:exactMatch ncbigene:4863 semapv:UnspecifiedMatching -OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:7178 semapv:UnspecifiedMatching -OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:MMRN1 semapv:UnspecifiedMatching -OMIM:601456 MMRN1 skos:exactMatch ncbigene:22915 semapv:UnspecifiedMatching -OMIM:601459 PNOC skos:exactMatch hgnc.symbol:9163 semapv:UnspecifiedMatching -OMIM:601459 PNOC skos:exactMatch hgnc.symbol:PNOC semapv:UnspecifiedMatching -OMIM:601459 PNOC skos:exactMatch ncbigene:5368 semapv:UnspecifiedMatching -OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:10955 semapv:UnspecifiedMatching -OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:SLCO2A1 semapv:UnspecifiedMatching -OMIM:601460 SLCO2A1 skos:exactMatch ncbigene:6578 semapv:UnspecifiedMatching -OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:797 semapv:UnspecifiedMatching -OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:ATOH1 semapv:UnspecifiedMatching -OMIM:601461 ATOH1 skos:exactMatch ncbigene:474 semapv:UnspecifiedMatching -OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:4818 semapv:UnspecifiedMatching -OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:HAS1 semapv:UnspecifiedMatching -OMIM:601463 HAS1 skos:exactMatch ncbigene:3036 semapv:UnspecifiedMatching -OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:6473 semapv:UnspecifiedMatching -OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:AFF3 semapv:UnspecifiedMatching -OMIM:601464 AFF3 skos:exactMatch ncbigene:3899 semapv:UnspecifiedMatching -OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:2858 semapv:UnspecifiedMatching -OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:DGUOK semapv:UnspecifiedMatching -OMIM:601465 DGUOK skos:exactMatch ncbigene:1716 semapv:UnspecifiedMatching -OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:6763 semapv:UnspecifiedMatching -OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:MAD2L1 semapv:UnspecifiedMatching -OMIM:601467 MAD2L1 skos:exactMatch ncbigene:4085 semapv:UnspecifiedMatching -OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:6904 semapv:UnspecifiedMatching -OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:MAT2A semapv:UnspecifiedMatching -OMIM:601468 MAT2A skos:exactMatch ncbigene:4144 semapv:UnspecifiedMatching -OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:9609 semapv:UnspecifiedMatching -OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:PTH2R semapv:UnspecifiedMatching -OMIM:601469 PTH2R skos:exactMatch ncbigene:5746 semapv:UnspecifiedMatching -OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:2558 semapv:UnspecifiedMatching -OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:CX3CR1 semapv:UnspecifiedMatching -OMIM:601470 CX3CR1 skos:exactMatch ncbigene:1524 semapv:UnspecifiedMatching -OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching -OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching -OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:13146 semapv:UnspecifiedMatching -OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:ZNF75A semapv:UnspecifiedMatching -OMIM:601473 ZNF75A skos:exactMatch ncbigene:7627 semapv:UnspecifiedMatching -OMIM:601475 PWP2 skos:exactMatch UMLS:C1419145 semapv:UnspecifiedMatching -OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:9711 semapv:UnspecifiedMatching -OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:PWP2 semapv:UnspecifiedMatching -OMIM:601475 PWP2 skos:exactMatch ncbigene:5822 semapv:UnspecifiedMatching -OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:29612 semapv:UnspecifiedMatching -OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:LAPTM5 semapv:UnspecifiedMatching -OMIM:601476 LAPTM5 skos:exactMatch ncbigene:7805 semapv:UnspecifiedMatching -OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:7595 semapv:UnspecifiedMatching -OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:MYO1A semapv:UnspecifiedMatching -OMIM:601478 MYO1A skos:exactMatch ncbigene:4640 semapv:UnspecifiedMatching -OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:7599 semapv:UnspecifiedMatching -OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:MYO1E semapv:UnspecifiedMatching -OMIM:601479 MYO1E skos:exactMatch ncbigene:4643 semapv:UnspecifiedMatching -OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:7600 semapv:UnspecifiedMatching -OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:MYO1F semapv:UnspecifiedMatching -OMIM:601480 MYO1F skos:exactMatch ncbigene:4542 semapv:UnspecifiedMatching -OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:7593 semapv:UnspecifiedMatching -OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:MYO10 semapv:UnspecifiedMatching -OMIM:601481 MYO10 skos:exactMatch ncbigene:4651 semapv:UnspecifiedMatching -OMIM:601482 DR1 skos:exactMatch hgnc.symbol:3017 semapv:UnspecifiedMatching -OMIM:601482 DR1 skos:exactMatch hgnc.symbol:DR1 semapv:UnspecifiedMatching -OMIM:601482 DR1 skos:exactMatch ncbigene:1810 semapv:UnspecifiedMatching -OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:8826 semapv:UnspecifiedMatching -OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:PEG3 semapv:UnspecifiedMatching -OMIM:601483 PEG3 skos:exactMatch ncbigene:5178 semapv:UnspecifiedMatching -OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:10751 semapv:UnspecifiedMatching -OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:SELENOP semapv:UnspecifiedMatching -OMIM:601484 SELENOP skos:exactMatch ncbigene:6414 semapv:UnspecifiedMatching -OMIM:601485 STX1B skos:exactMatch hgnc.symbol:18539 semapv:UnspecifiedMatching -OMIM:601485 STX1B skos:exactMatch hgnc.symbol:STX1B semapv:UnspecifiedMatching -OMIM:601485 STX1B skos:exactMatch ncbigene:112755 semapv:UnspecifiedMatching -OMIM:601486 DAZL skos:exactMatch hgnc.symbol:2685 semapv:UnspecifiedMatching -OMIM:601486 DAZL skos:exactMatch hgnc.symbol:DAZL semapv:UnspecifiedMatching -OMIM:601486 DAZL skos:exactMatch ncbigene:1618 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C0028756 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C1335238 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C1720861 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C1832250 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C1832251 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C1832253 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C4016735 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C4016737 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C4016738 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C5193186 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch UMLS:C5436966 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch hgnc.symbol:9236 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch hgnc.symbol:PPARG semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch ncbigene:5468 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch UMLS:C1417610 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:7662 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:NCF4 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch ncbigene:4689 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch UMLS:C1456383 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch UMLS:C3900122 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:5468 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:IGFALS semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch ncbigene:3483 semapv:UnspecifiedMatching -OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:7780 semapv:UnspecifiedMatching -OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:NFE2 semapv:UnspecifiedMatching -OMIM:601490 NFE2 skos:exactMatch ncbigene:4778 semapv:UnspecifiedMatching -OMIM:601491 IPW skos:exactMatch hgnc.symbol:6109 semapv:UnspecifiedMatching -OMIM:601491 IPW skos:exactMatch hgnc.symbol:IPW semapv:UnspecifiedMatching -OMIM:601491 IPW skos:exactMatch ncbigene:3653 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:54260 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C1832244 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C3152137 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C4225414 semapv:UnspecifiedMatching -OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:4243 semapv:UnspecifiedMatching -OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:GFRA1 semapv:UnspecifiedMatching -OMIM:601496 GFRA1 skos:exactMatch ncbigene:2674 semapv:UnspecifiedMatching -OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:937 semapv:UnspecifiedMatching -OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:BAG1 semapv:UnspecifiedMatching -OMIM:601497 BAG1 skos:exactMatch ncbigene:573 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C1418478 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C3553936 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C3553937 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch UMLS:C4693988 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:8859 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:PEX6 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch ncbigene:5190 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch UMLS:C1364142 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch UMLS:C4310933 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch hgnc.symbol:11119 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch hgnc.symbol:SMO semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch ncbigene:6608 semapv:UnspecifiedMatching -OMIM:601501 VPS35 skos:exactMatch hgnc.symbol:13487 semapv:UnspecifiedMatching -OMIM:601501 VPS35 skos:exactMatch hgnc.symbol:VPS35 semapv:UnspecifiedMatching -OMIM:601501 VPS35 skos:exactMatch ncbigene:55737 semapv:UnspecifiedMatching -OMIM:601502 FCGR1B skos:exactMatch UMLS:C1414551 semapv:UnspecifiedMatching -OMIM:601502 FCGR1B skos:exactMatch hgnc.symbol:3614 semapv:UnspecifiedMatching -OMIM:601502 FCGR1B skos:exactMatch hgnc.symbol:FCGR1BP semapv:UnspecifiedMatching -OMIM:601502 FCGR1B skos:exactMatch ncbigene:2210 semapv:UnspecifiedMatching -OMIM:601503 FCGR1CP skos:exactMatch UMLS:C1414552 semapv:UnspecifiedMatching -OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:3615 semapv:UnspecifiedMatching -OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:FCGR1CP semapv:UnspecifiedMatching -OMIM:601503 FCGR1CP skos:exactMatch ncbigene:100132417 semapv:UnspecifiedMatching -OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:10698 semapv:UnspecifiedMatching -OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:SEC14L1 semapv:UnspecifiedMatching -OMIM:601504 SEC14L1 skos:exactMatch ncbigene:6397 semapv:UnspecifiedMatching -OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:12931 semapv:UnspecifiedMatching -OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:ZNF146 semapv:UnspecifiedMatching -OMIM:601505 ZNF146 skos:exactMatch ncbigene:7705 semapv:UnspecifiedMatching -OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:7729 semapv:UnspecifiedMatching -OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:SEPTIN2 semapv:UnspecifiedMatching -OMIM:601506 SEPT2 skos:exactMatch ncbigene:4735 semapv:UnspecifiedMatching -OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:2013 semapv:UnspecifiedMatching -OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:AP3S1 semapv:UnspecifiedMatching -OMIM:601507 AP3S1 skos:exactMatch ncbigene:1176 semapv:UnspecifiedMatching -OMIM:601509 GGH skos:exactMatch hgnc.symbol:4248 semapv:UnspecifiedMatching -OMIM:601509 GGH skos:exactMatch hgnc.symbol:GGH semapv:UnspecifiedMatching -OMIM:601509 GGH skos:exactMatch ncbigene:8836 semapv:UnspecifiedMatching -OMIM:601510 SCAP skos:exactMatch hgnc.symbol:30634 semapv:UnspecifiedMatching -OMIM:601510 SCAP skos:exactMatch hgnc.symbol:SCAP semapv:UnspecifiedMatching -OMIM:601510 SCAP skos:exactMatch ncbigene:22937 semapv:UnspecifiedMatching -OMIM:601511 STAT5A skos:exactMatch UMLS:C1335875 semapv:UnspecifiedMatching -OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:11366 semapv:UnspecifiedMatching -OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:STAT5A semapv:UnspecifiedMatching -OMIM:601511 STAT5A skos:exactMatch ncbigene:6776 semapv:UnspecifiedMatching -OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:11368 semapv:UnspecifiedMatching -OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:STAT6 semapv:UnspecifiedMatching -OMIM:601512 STAT6 skos:exactMatch ncbigene:6778 semapv:UnspecifiedMatching -OMIM:601513 FGF12 skos:exactMatch UMLS:C1414597 semapv:UnspecifiedMatching -OMIM:601513 FGF12 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching -OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:3668 semapv:UnspecifiedMatching -OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:FGF12 semapv:UnspecifiedMatching -OMIM:601513 FGF12 skos:exactMatch ncbigene:2257 semapv:UnspecifiedMatching -OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:3667 semapv:UnspecifiedMatching -OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:FGF11 semapv:UnspecifiedMatching -OMIM:601514 FGF11 skos:exactMatch ncbigene:2256 semapv:UnspecifiedMatching -OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:3671 semapv:UnspecifiedMatching -OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:FGF14 semapv:UnspecifiedMatching -OMIM:601515 FGF14 skos:exactMatch ncbigene:2259 semapv:UnspecifiedMatching -OMIM:601516 SF1 skos:exactMatch hgnc.symbol:12950 semapv:UnspecifiedMatching -OMIM:601516 SF1 skos:exactMatch hgnc.symbol:SF1 semapv:UnspecifiedMatching -OMIM:601516 SF1 skos:exactMatch ncbigene:7536 semapv:UnspecifiedMatching -OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:10555 semapv:UnspecifiedMatching -OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:ATXN2 semapv:UnspecifiedMatching -OMIM:601517 ATXN2 skos:exactMatch ncbigene:6311 semapv:UnspecifiedMatching -OMIM:601519 ATP5ME skos:exactMatch UMLS:C1412667 semapv:UnspecifiedMatching -OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:846 semapv:UnspecifiedMatching -OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:ATP5ME semapv:UnspecifiedMatching -OMIM:601519 ATP5ME skos:exactMatch ncbigene:521 semapv:UnspecifiedMatching -OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:10615 semapv:UnspecifiedMatching -OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:CCL17 semapv:UnspecifiedMatching -OMIM:601520 CCL17 skos:exactMatch ncbigene:6361 semapv:UnspecifiedMatching -OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:3466 semapv:UnspecifiedMatching -OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:ESM1 semapv:UnspecifiedMatching -OMIM:601521 ESM1 skos:exactMatch ncbigene:11082 semapv:UnspecifiedMatching -OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:4567 semapv:UnspecifiedMatching -OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:GRB7 semapv:UnspecifiedMatching -OMIM:601522 GRB7 skos:exactMatch ncbigene:2886 semapv:UnspecifiedMatching -OMIM:601523 GRB10 skos:exactMatch UMLS:C1366512 semapv:UnspecifiedMatching -OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:4564 semapv:UnspecifiedMatching -OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:GRB10 semapv:UnspecifiedMatching -OMIM:601523 GRB10 skos:exactMatch ncbigene:2887 semapv:UnspecifiedMatching -OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:4565 semapv:UnspecifiedMatching -OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:GRB14 semapv:UnspecifiedMatching -OMIM:601524 GRB14 skos:exactMatch ncbigene:2888 semapv:UnspecifiedMatching -OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:1932 semapv:UnspecifiedMatching -OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:CHI3L1 semapv:UnspecifiedMatching -OMIM:601525 CHI3L1 skos:exactMatch ncbigene:1116 semapv:UnspecifiedMatching -OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:1933 semapv:UnspecifiedMatching -OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:CHI3L2 semapv:UnspecifiedMatching -OMIM:601526 CHI3L2 skos:exactMatch ncbigene:1117 semapv:UnspecifiedMatching -OMIM:601527 ALX1 skos:exactMatch UMLS:C1413127 semapv:UnspecifiedMatching -OMIM:601527 ALX1 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching -OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:1494 semapv:UnspecifiedMatching -OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:ALX1 semapv:UnspecifiedMatching -OMIM:601527 ALX1 skos:exactMatch ncbigene:8092 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch UMLS:C1336933 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch UMLS:C4747769 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:12682 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:VEGFC semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch ncbigene:7424 semapv:UnspecifiedMatching -OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:7971 semapv:UnspecifiedMatching -OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:NR2C1 semapv:UnspecifiedMatching -OMIM:601529 NR2C1 skos:exactMatch ncbigene:7181 semapv:UnspecifiedMatching -OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:11280 semapv:UnspecifiedMatching -OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:SQSTM1 semapv:UnspecifiedMatching -OMIM:601530 SQSTM1 skos:exactMatch ncbigene:8878 semapv:UnspecifiedMatching -OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:6713 semapv:UnspecifiedMatching -OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:LTB4R semapv:UnspecifiedMatching -OMIM:601531 LTB4R skos:exactMatch ncbigene:1241 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch UMLS:C1332665 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:1507 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:CASP6 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch ncbigene:839 semapv:UnspecifiedMatching -OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:198 semapv:UnspecifiedMatching -OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:ADAM2 semapv:UnspecifiedMatching -OMIM:601533 ADAM2 skos:exactMatch ncbigene:2515 semapv:UnspecifiedMatching -OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:6264 semapv:UnspecifiedMatching -OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:KCNJ3 semapv:UnspecifiedMatching -OMIM:601534 KCNJ3 skos:exactMatch ncbigene:3760 semapv:UnspecifiedMatching -OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:3225 semapv:UnspecifiedMatching -OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:EFNA5 semapv:UnspecifiedMatching -OMIM:601535 EFNA5 skos:exactMatch ncbigene:1946 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching -OMIM:601538 PROP1 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching -OMIM:601538 PROP1 skos:exactMatch UMLS:C1418947 semapv:UnspecifiedMatching -OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:9455 semapv:UnspecifiedMatching -OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:PROP1 semapv:UnspecifiedMatching -OMIM:601538 PROP1 skos:exactMatch ncbigene:5626 semapv:UnspecifiedMatching -OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:1103 semapv:UnspecifiedMatching -OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:BRD2 semapv:UnspecifiedMatching -OMIM:601540 BRD2 skos:exactMatch ncbigene:6046 semapv:UnspecifiedMatching -OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:1104 semapv:UnspecifiedMatching -OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:BRD3 semapv:UnspecifiedMatching -OMIM:601541 BRD3 skos:exactMatch ncbigene:8019 semapv:UnspecifiedMatching -OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:9005 semapv:UnspecifiedMatching -OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:PITX2 semapv:UnspecifiedMatching -OMIM:601542 PITX2 skos:exactMatch ncbigene:5308 semapv:UnspecifiedMatching -OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch UMLS:C1832187 semapv:UnspecifiedMatching -OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching -OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:8574 semapv:UnspecifiedMatching -OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:PAFAH1B1 semapv:UnspecifiedMatching -OMIM:601545 PAFAH1B1 skos:exactMatch ncbigene:5048 semapv:UnspecifiedMatching -OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:9459 semapv:UnspecifiedMatching -OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:PROX1 semapv:UnspecifiedMatching -OMIM:601546 PROX1 skos:exactMatch ncbigene:5629 semapv:UnspecifiedMatching -OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:3218 semapv:UnspecifiedMatching -OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:EFEMP1 semapv:UnspecifiedMatching -OMIM:601548 EFEMP1 skos:exactMatch ncbigene:2202 semapv:UnspecifiedMatching -OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:11697 semapv:UnspecifiedMatching -OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:DYNLT1 semapv:UnspecifiedMatching -OMIM:601554 DYNLT1 skos:exactMatch ncbigene:6993 semapv:UnspecifiedMatching -OMIM:601555 RND2 skos:exactMatch hgnc.symbol:18315 semapv:UnspecifiedMatching -OMIM:601555 RND2 skos:exactMatch hgnc.symbol:RND2 semapv:UnspecifiedMatching -OMIM:601555 RND2 skos:exactMatch ncbigene:8153 semapv:UnspecifiedMatching -OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:10548 semapv:UnspecifiedMatching -OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:ATXN1 semapv:UnspecifiedMatching -OMIM:601556 ATXN1 skos:exactMatch ncbigene:6310 semapv:UnspecifiedMatching -OMIM:601557 ACACB skos:exactMatch hgnc.symbol:85 semapv:UnspecifiedMatching -OMIM:601557 ACACB skos:exactMatch hgnc.symbol:ACACB semapv:UnspecifiedMatching -OMIM:601557 ACACB skos:exactMatch ncbigene:32 semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch UMLS:C1426009 semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:19097 semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:RBPMS semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch ncbigene:11030 semapv:UnspecifiedMatching -OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:15476 semapv:UnspecifiedMatching -OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:DYNLL1 semapv:UnspecifiedMatching -OMIM:601562 DYNLL1 skos:exactMatch ncbigene:8655 semapv:UnspecifiedMatching -OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:9483 semapv:UnspecifiedMatching -OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:PRSS2 semapv:UnspecifiedMatching -OMIM:601564 PRSS2 skos:exactMatch ncbigene:5645 semapv:UnspecifiedMatching -OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:5358 semapv:UnspecifiedMatching -OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:IRF8 semapv:UnspecifiedMatching -OMIM:601565 IRF8 skos:exactMatch ncbigene:3394 semapv:UnspecifiedMatching -OMIM:601566 ING1 skos:exactMatch hgnc.symbol:6062 semapv:UnspecifiedMatching -OMIM:601566 ING1 skos:exactMatch hgnc.symbol:ING1 semapv:UnspecifiedMatching -OMIM:601566 ING1 skos:exactMatch ncbigene:3621 semapv:UnspecifiedMatching -OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:6631 semapv:UnspecifiedMatching -OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:LMAN1 semapv:UnspecifiedMatching -OMIM:601567 LMAN1 skos:exactMatch ncbigene:3998 semapv:UnspecifiedMatching -OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:245 semapv:UnspecifiedMatching -OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:ADD3 semapv:UnspecifiedMatching -OMIM:601568 ADD3 skos:exactMatch ncbigene:120 semapv:UnspecifiedMatching -OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:12482 semapv:UnspecifiedMatching -OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:UBE2G1 semapv:UnspecifiedMatching -OMIM:601569 UBE2G1 skos:exactMatch ncbigene:7326 semapv:UnspecifiedMatching -OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:12786 semapv:UnspecifiedMatching -OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:WNT7A semapv:UnspecifiedMatching -OMIM:601570 WNT7A skos:exactMatch ncbigene:7476 semapv:UnspecifiedMatching -OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:1490 semapv:UnspecifiedMatching -OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:CAPZA2 semapv:UnspecifiedMatching -OMIM:601571 CAPZA2 skos:exactMatch ncbigene:830 semapv:UnspecifiedMatching -OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:1491 semapv:UnspecifiedMatching -OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:CAPZB semapv:UnspecifiedMatching -OMIM:601572 CAPZB skos:exactMatch ncbigene:832 semapv:UnspecifiedMatching -OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:3527 semapv:UnspecifiedMatching -OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:EZH2 semapv:UnspecifiedMatching -OMIM:601573 EZH2 skos:exactMatch ncbigene:2146 semapv:UnspecifiedMatching -OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:11547 semapv:UnspecifiedMatching -OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:TAF15 semapv:UnspecifiedMatching -OMIM:601574 TAF15 skos:exactMatch ncbigene:8148 semapv:UnspecifiedMatching -OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:3798 semapv:UnspecifiedMatching -OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:FOSL2 semapv:UnspecifiedMatching -OMIM:601575 FOSL2 skos:exactMatch ncbigene:2355 semapv:UnspecifiedMatching -OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:9681 semapv:UnspecifiedMatching -OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:PTPRS semapv:UnspecifiedMatching -OMIM:601576 PTPRS skos:exactMatch ncbigene:5802 semapv:UnspecifiedMatching -OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:9667 semapv:UnspecifiedMatching -OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:PTPRCAP semapv:UnspecifiedMatching -OMIM:601577 PTPRCAP skos:exactMatch ncbigene:5790 semapv:UnspecifiedMatching -OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:1592 semapv:UnspecifiedMatching -OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:CCNG1 semapv:UnspecifiedMatching -OMIM:601578 CCNG1 skos:exactMatch ncbigene:900 semapv:UnspecifiedMatching -OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:8095 semapv:UnspecifiedMatching -OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:OAZ1 semapv:UnspecifiedMatching -OMIM:601579 OAZ1 skos:exactMatch ncbigene:4946 semapv:UnspecifiedMatching -OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:1488 semapv:UnspecifiedMatching -OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:CAPZA1 semapv:UnspecifiedMatching -OMIM:601580 CAPZA1 skos:exactMatch ncbigene:829 semapv:UnspecifiedMatching -OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:7994 semapv:UnspecifiedMatching -OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:NRCAM semapv:UnspecifiedMatching -OMIM:601581 NRCAM skos:exactMatch ncbigene:4897 semapv:UnspecifiedMatching -OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:6079 semapv:UnspecifiedMatching -OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:INPP5D semapv:UnspecifiedMatching -OMIM:601582 INPP5D skos:exactMatch ncbigene:3635 semapv:UnspecifiedMatching -OMIM:601583 wilms tumor 5 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching -OMIM:601583 wilms tumor 5 skos:exactMatch UMLS:C1832099 semapv:UnspecifiedMatching -OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:9635 semapv:UnspecifiedMatching -OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:PTP4A2 semapv:UnspecifiedMatching -OMIM:601584 PTP4A2 skos:exactMatch ncbigene:8073 semapv:UnspecifiedMatching -OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:9634 semapv:UnspecifiedMatching -OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:PTP4A1 semapv:UnspecifiedMatching -OMIM:601585 PTP4A1 skos:exactMatch ncbigene:7803 semapv:UnspecifiedMatching -OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:9596 semapv:UnspecifiedMatching -OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:PTGER4 semapv:UnspecifiedMatching -OMIM:601586 PTGER4 skos:exactMatch ncbigene:5734 semapv:UnspecifiedMatching -OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:9872 semapv:UnspecifiedMatching -OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:RASA2 semapv:UnspecifiedMatching -OMIM:601589 RASA2 skos:exactMatch ncbigene:5922 semapv:UnspecifiedMatching -OMIM:601590 EVPL skos:exactMatch hgnc.symbol:3503 semapv:UnspecifiedMatching -OMIM:601590 EVPL skos:exactMatch hgnc.symbol:EVPL semapv:UnspecifiedMatching -OMIM:601590 EVPL skos:exactMatch ncbigene:2125 semapv:UnspecifiedMatching -OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:9416 semapv:UnspecifiedMatching -OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:PRKG2 semapv:UnspecifiedMatching -OMIM:601591 PRKG2 skos:exactMatch ncbigene:5593 semapv:UnspecifiedMatching -OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:9863 semapv:UnspecifiedMatching -OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:RAPSN semapv:UnspecifiedMatching -OMIM:601592 RAPSN skos:exactMatch ncbigene:5913 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch UMLS:C1332381 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:952 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:BARD1 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch ncbigene:580 semapv:UnspecifiedMatching -OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:6196 semapv:UnspecifiedMatching -OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:JARID2 semapv:UnspecifiedMatching -OMIM:601594 JARID2 skos:exactMatch ncbigene:3720 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch UMLS:C1416962 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:6767 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:SMAD1 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch ncbigene:4086 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch UMLS:C1366526 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:1131 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:BTG2 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch ncbigene:7832 semapv:UnspecifiedMatching -OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:9668 semapv:UnspecifiedMatching -OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:PTPRD semapv:UnspecifiedMatching -OMIM:601598 PTPRD skos:exactMatch ncbigene:5789 semapv:UnspecifiedMatching -OMIM:601599 SSPN skos:exactMatch hgnc.symbol:11322 semapv:UnspecifiedMatching -OMIM:601599 SSPN skos:exactMatch hgnc.symbol:SSPN semapv:UnspecifiedMatching -OMIM:601599 SSPN skos:exactMatch ncbigene:8082 semapv:UnspecifiedMatching -OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:3494 semapv:UnspecifiedMatching -OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:ETV5 semapv:UnspecifiedMatching -OMIM:601600 ETV5 skos:exactMatch ncbigene:2119 semapv:UnspecifiedMatching -OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:11743 semapv:UnspecifiedMatching -OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:TFAP2B semapv:UnspecifiedMatching -OMIM:601601 TFAP2B skos:exactMatch ncbigene:7021 semapv:UnspecifiedMatching -OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:11744 semapv:UnspecifiedMatching -OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:TFAP2C semapv:UnspecifiedMatching -OMIM:601602 TFAP2C skos:exactMatch ncbigene:7022 semapv:UnspecifiedMatching -OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:6529 semapv:UnspecifiedMatching -OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:LCP2 semapv:UnspecifiedMatching -OMIM:601603 LCP2 skos:exactMatch ncbigene:3937 semapv:UnspecifiedMatching -OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:5971 semapv:UnspecifiedMatching -OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:IL12RB1 semapv:UnspecifiedMatching -OMIM:601604 IL12RB1 skos:exactMatch ncbigene:3594 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C0812273 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C2750405 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C3553248 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4016745 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4048809 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:11103 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:SMARCB1 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch ncbigene:6598 semapv:UnspecifiedMatching -OMIM:601609 HADH skos:exactMatch hgnc.symbol:4799 semapv:UnspecifiedMatching -OMIM:601609 HADH skos:exactMatch hgnc.symbol:HADH semapv:UnspecifiedMatching -OMIM:601609 HADH skos:exactMatch ncbigene:3033 semapv:UnspecifiedMatching -OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:1135 semapv:UnspecifiedMatching -OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:BTN1A1 semapv:UnspecifiedMatching -OMIM:601610 BTN1A1 skos:exactMatch ncbigene:696 semapv:UnspecifiedMatching -OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:10919 semapv:UnspecifiedMatching -OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:SLC14A2 semapv:UnspecifiedMatching -OMIM:601611 SLC14A2 skos:exactMatch ncbigene:8170 semapv:UnspecifiedMatching -OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:1060 semapv:UnspecifiedMatching -OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:CXCR5 semapv:UnspecifiedMatching -OMIM:601613 CXCR5 skos:exactMatch ncbigene:643 semapv:UnspecifiedMatching -OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:8029 semapv:UnspecifiedMatching -OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:NTN1 semapv:UnspecifiedMatching -OMIM:601614 NTN1 skos:exactMatch ncbigene:9423 semapv:UnspecifiedMatching -OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:33 semapv:UnspecifiedMatching -OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:ABCA3 semapv:UnspecifiedMatching -OMIM:601615 ABCA3 skos:exactMatch ncbigene:21 semapv:UnspecifiedMatching -OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:9940 semapv:UnspecifiedMatching -OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:RDH5 semapv:UnspecifiedMatching -OMIM:601617 RDH5 skos:exactMatch ncbigene:5959 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch UMLS:C1420321 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch UMLS:C1843004 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:11194 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:SOX18 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch ncbigene:54345 semapv:UnspecifiedMatching -OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:9842 semapv:UnspecifiedMatching -OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:RALGDS semapv:UnspecifiedMatching -OMIM:601619 RALGDS skos:exactMatch ncbigene:5900 semapv:UnspecifiedMatching -OMIM:601620 TBX5 skos:exactMatch UMLS:C0265264 semapv:UnspecifiedMatching -OMIM:601620 TBX5 skos:exactMatch UMLS:C1420615 semapv:UnspecifiedMatching -OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:11604 semapv:UnspecifiedMatching -OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:TBX5 semapv:UnspecifiedMatching -OMIM:601620 TBX5 skos:exactMatch ncbigene:6910 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch UMLS:C1420613 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch UMLS:C1866994 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:11602 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:TBX3 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch ncbigene:6926 semapv:UnspecifiedMatching -OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:12428 semapv:UnspecifiedMatching -OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:TWIST1 semapv:UnspecifiedMatching -OMIM:601622 TWIST1 skos:exactMatch ncbigene:7291 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch UMLS:C1421293 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:12496 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:UBE3A semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch ncbigene:7337 semapv:UnspecifiedMatching -OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:3624 semapv:UnspecifiedMatching -OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:FCN2 semapv:UnspecifiedMatching -OMIM:601624 FCN2 skos:exactMatch ncbigene:2220 semapv:UnspecifiedMatching -OMIM:601625 ART1 skos:exactMatch hgnc.symbol:723 semapv:UnspecifiedMatching -OMIM:601625 ART1 skos:exactMatch hgnc.symbol:ART1 semapv:UnspecifiedMatching -OMIM:601625 ART1 skos:exactMatch ncbigene:417 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:167714 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319465 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319480 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86845 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86846 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86851 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98277 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch UMLS:C0023467 semapv:UnspecifiedMatching -OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:11118 semapv:UnspecifiedMatching -OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:SMN2 semapv:UnspecifiedMatching -OMIM:601627 SMN2 skos:exactMatch ncbigene:6607 semapv:UnspecifiedMatching -OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:8742 semapv:UnspecifiedMatching -OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:PCP4 semapv:UnspecifiedMatching -OMIM:601629 PCP4 skos:exactMatch ncbigene:5121 semapv:UnspecifiedMatching -OMIM:601632 POU4F1 skos:exactMatch UMLS:C1418765 semapv:UnspecifiedMatching -OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:9218 semapv:UnspecifiedMatching -OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:POU4F1 semapv:UnspecifiedMatching -OMIM:601632 POU4F1 skos:exactMatch ncbigene:5457 semapv:UnspecifiedMatching -OMIM:601633 NSF skos:exactMatch hgnc.symbol:8016 semapv:UnspecifiedMatching -OMIM:601633 NSF skos:exactMatch hgnc.symbol:NSF semapv:UnspecifiedMatching -OMIM:601633 NSF skos:exactMatch ncbigene:4905 semapv:UnspecifiedMatching -OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:4819 semapv:UnspecifiedMatching -OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:HAS2 semapv:UnspecifiedMatching -OMIM:601636 HAS2 skos:exactMatch ncbigene:3037 semapv:UnspecifiedMatching -OMIM:601637 CYP51A1 skos:exactMatch UMLS:C1413892 semapv:UnspecifiedMatching -OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:2649 semapv:UnspecifiedMatching -OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:CYP51A1 semapv:UnspecifiedMatching -OMIM:601637 CYP51A1 skos:exactMatch ncbigene:1595 semapv:UnspecifiedMatching -OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:17160 semapv:UnspecifiedMatching -OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:ARFIP2 semapv:UnspecifiedMatching -OMIM:601638 ARFIP2 skos:exactMatch ncbigene:23647 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch UMLS:C1418901 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:9380 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:PRKACA semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch ncbigene:5566 semapv:UnspecifiedMatching -OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:120 semapv:UnspecifiedMatching -OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:ACOX2 semapv:UnspecifiedMatching -OMIM:601641 ACOX2 skos:exactMatch ncbigene:8309 semapv:UnspecifiedMatching -OMIM:601642 IL12RB2 skos:exactMatch hgnc.symbol:5972 semapv:UnspecifiedMatching -OMIM:601642 IL12RB2 skos:exactMatch hgnc.symbol:IL12RB2 semapv:UnspecifiedMatching -OMIM:601642 IL12RB2 skos:exactMatch ncbigene:3595 semapv:UnspecifiedMatching -OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:9309 semapv:UnspecifiedMatching -OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:PPP2R5A semapv:UnspecifiedMatching -OMIM:601643 PPP2R5A skos:exactMatch ncbigene:5525 semapv:UnspecifiedMatching -OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:9310 semapv:UnspecifiedMatching -OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:PPP2R5B semapv:UnspecifiedMatching -OMIM:601644 PPP2R5B skos:exactMatch ncbigene:5526 semapv:UnspecifiedMatching -OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:9311 semapv:UnspecifiedMatching -OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:PPP2R5C semapv:UnspecifiedMatching -OMIM:601645 PPP2R5C skos:exactMatch ncbigene:5527 semapv:UnspecifiedMatching -OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:9312 semapv:UnspecifiedMatching -OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:PPP2R5D semapv:UnspecifiedMatching -OMIM:601646 PPP2R5D skos:exactMatch ncbigene:5528 semapv:UnspecifiedMatching -OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:9313 semapv:UnspecifiedMatching -OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:PPP2R5E semapv:UnspecifiedMatching -OMIM:601647 PPP2R5E skos:exactMatch ncbigene:5529 semapv:UnspecifiedMatching -OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:9561 semapv:UnspecifiedMatching -OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:PSMD4 semapv:UnspecifiedMatching -OMIM:601648 PSMD4 skos:exactMatch ncbigene:5710 semapv:UnspecifiedMatching -OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:7640 semapv:UnspecifiedMatching -OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:NAP1L4 semapv:UnspecifiedMatching -OMIM:601651 NAP1L4 skos:exactMatch ncbigene:4676 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch UMLS:C1417573 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch UMLS:C1842028 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch UMLS:C1866550 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch UMLS:C4016749 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch UMLS:C4016750 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch hgnc.symbol:7610 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch hgnc.symbol:MYOC semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch ncbigene:4653 semapv:UnspecifiedMatching -OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:3519 semapv:UnspecifiedMatching -OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:EYA1 semapv:UnspecifiedMatching -OMIM:601653 EYA1 skos:exactMatch ncbigene:2138 semapv:UnspecifiedMatching -OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:3520 semapv:UnspecifiedMatching -OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:EYA2 semapv:UnspecifiedMatching -OMIM:601654 EYA2 skos:exactMatch ncbigene:2139 semapv:UnspecifiedMatching -OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:3521 semapv:UnspecifiedMatching -OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:EYA3 semapv:UnspecifiedMatching -OMIM:601655 EYA3 skos:exactMatch ncbigene:2140 semapv:UnspecifiedMatching -OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:4174 semapv:UnspecifiedMatching -OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:GATA6 semapv:UnspecifiedMatching -OMIM:601656 GATA6 skos:exactMatch ncbigene:2627 semapv:UnspecifiedMatching -OMIM:601657 EPYC skos:exactMatch hgnc.symbol:3053 semapv:UnspecifiedMatching -OMIM:601657 EPYC skos:exactMatch hgnc.symbol:EPYC semapv:UnspecifiedMatching -OMIM:601657 EPYC skos:exactMatch ncbigene:1833 semapv:UnspecifiedMatching -OMIM:601658 OC90 skos:exactMatch hgnc.symbol:8100 semapv:UnspecifiedMatching -OMIM:601658 OC90 skos:exactMatch hgnc.symbol:OC90 semapv:UnspecifiedMatching -OMIM:601658 OC90 skos:exactMatch ncbigene:729330 semapv:UnspecifiedMatching -OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:1273 semapv:UnspecifiedMatching -OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:GATD3 semapv:UnspecifiedMatching -OMIM:601659 GATD3A skos:exactMatch ncbigene:8209 semapv:UnspecifiedMatching -OMIM:601661 UBE2I skos:exactMatch UMLS:C1421283 semapv:UnspecifiedMatching -OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:12485 semapv:UnspecifiedMatching -OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:UBE2I semapv:UnspecifiedMatching -OMIM:601661 UBE2I skos:exactMatch ncbigene:7329 semapv:UnspecifiedMatching -OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:400 semapv:UnspecifiedMatching -OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:ALCAM semapv:UnspecifiedMatching -OMIM:601662 ALCAM skos:exactMatch ncbigene:214 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch UMLS:C1414462 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch UMLS:C4748626 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:3468 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:ESR2 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch ncbigene:2100 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1540207 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:30859 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:SNRNP200 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch ncbigene:23020 semapv:UnspecifiedMatching -OMIM:601666 iia 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching -OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:484 semapv:UnspecifiedMatching -OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:ANGPT1 semapv:UnspecifiedMatching -OMIM:601667 ANGPT1 skos:exactMatch ncbigene:284 semapv:UnspecifiedMatching -OMIM:601670 DPF1 skos:exactMatch hgnc.symbol:20225 semapv:UnspecifiedMatching -OMIM:601670 DPF1 skos:exactMatch hgnc.symbol:DPF1 semapv:UnspecifiedMatching -OMIM:601670 DPF1 skos:exactMatch ncbigene:8193 semapv:UnspecifiedMatching -OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:9964 semapv:UnspecifiedMatching -OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:DPF2 semapv:UnspecifiedMatching -OMIM:601671 DPF2 skos:exactMatch ncbigene:5977 semapv:UnspecifiedMatching -OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:17427 semapv:UnspecifiedMatching -OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:DPF3 semapv:UnspecifiedMatching -OMIM:601672 DPF3 skos:exactMatch ncbigene:8110 semapv:UnspecifiedMatching -OMIM:601673 ELAVL2 skos:exactMatch UMLS:C1414372 semapv:UnspecifiedMatching -OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:3313 semapv:UnspecifiedMatching -OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:ELAVL2 semapv:UnspecifiedMatching -OMIM:601673 ELAVL2 skos:exactMatch ncbigene:1993 semapv:UnspecifiedMatching -OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:3526 semapv:UnspecifiedMatching -OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:EZH1 semapv:UnspecifiedMatching -OMIM:601674 EZH1 skos:exactMatch ncbigene:2145 semapv:UnspecifiedMatching -OMIM:601677 NDUFA5 skos:exactMatch UMLS:C1417625 semapv:UnspecifiedMatching -OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:7688 semapv:UnspecifiedMatching -OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:NDUFA5 semapv:UnspecifiedMatching -OMIM:601677 NDUFA5 skos:exactMatch ncbigene:4698 semapv:UnspecifiedMatching -OMIM:601679 GTF2I skos:exactMatch hgnc.symbol:4659 semapv:UnspecifiedMatching -OMIM:601679 GTF2I skos:exactMatch hgnc.symbol:GTF2I semapv:UnspecifiedMatching -OMIM:601679 GTF2I skos:exactMatch ncbigene:2969 semapv:UnspecifiedMatching -OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:9552 semapv:UnspecifiedMatching -OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:PSMC5 semapv:UnspecifiedMatching -OMIM:601681 PSMC5 skos:exactMatch ncbigene:5705 semapv:UnspecifiedMatching -OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:2244 semapv:UnspecifiedMatching -OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:COQ7 semapv:UnspecifiedMatching -OMIM:601683 COQ7 skos:exactMatch ncbigene:10229 semapv:UnspecifiedMatching -OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:10430 semapv:UnspecifiedMatching -OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:RPS6KA1 semapv:UnspecifiedMatching -OMIM:601684 RPS6KA1 skos:exactMatch ncbigene:6195 semapv:UnspecifiedMatching -OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:10431 semapv:UnspecifiedMatching -OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:RPS6KA2 semapv:UnspecifiedMatching -OMIM:601685 RPS6KA2 skos:exactMatch ncbigene:6196 semapv:UnspecifiedMatching -OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:11726 semapv:UnspecifiedMatching -OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:TEP1 semapv:UnspecifiedMatching -OMIM:601686 TEP1 skos:exactMatch ncbigene:7011 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch UMLS:C1416715 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:6414 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:KRT12 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch ncbigene:3859 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch UMLS:C1415699 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch hgnc.symbol:5154 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch hgnc.symbol:HPGD semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch ncbigene:3248 semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch UMLS:C1420572 semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch UMLS:C4014449 semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:11538 semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:TAF4B semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch ncbigene:6875 semapv:UnspecifiedMatching -OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:9040 semapv:UnspecifiedMatching -OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:PLA2G7 semapv:UnspecifiedMatching -OMIM:601690 PLA2G7 skos:exactMatch ncbigene:7941 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1412063 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858080 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1866422 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch UMLS:C1970573 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:34 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:ABCA4 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch ncbigene:24 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C0339278 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1336623 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:11771 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:TGFBI semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch ncbigene:7045 semapv:UnspecifiedMatching -OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:12518 semapv:UnspecifiedMatching -OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:UCP2 semapv:UnspecifiedMatching -OMIM:601693 UCP2 skos:exactMatch ncbigene:7351 semapv:UnspecifiedMatching -OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:2446 semapv:UnspecifiedMatching -OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:CSN3 semapv:UnspecifiedMatching -OMIM:601695 CSN3 skos:exactMatch ncbigene:1448 semapv:UnspecifiedMatching -OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:8952 semapv:UnspecifiedMatching -OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:SERPINB8 semapv:UnspecifiedMatching -OMIM:601697 SERPINB8 skos:exactMatch ncbigene:5271 semapv:UnspecifiedMatching -OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:9677 semapv:UnspecifiedMatching -OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:PTPRN2 semapv:UnspecifiedMatching -OMIM:601698 PTPRN2 skos:exactMatch ncbigene:5799 semapv:UnspecifiedMatching -OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:9603 semapv:UnspecifiedMatching -OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:PTGIS semapv:UnspecifiedMatching -OMIM:601699 PTGIS skos:exactMatch ncbigene:5740 semapv:UnspecifiedMatching -OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:10251 semapv:UnspecifiedMatching -OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:ROCK1 semapv:UnspecifiedMatching -OMIM:601702 ROCK1 skos:exactMatch ncbigene:6093 semapv:UnspecifiedMatching -OMIM:601703 VASP skos:exactMatch hgnc.symbol:12652 semapv:UnspecifiedMatching -OMIM:601703 VASP skos:exactMatch hgnc.symbol:VASP semapv:UnspecifiedMatching -OMIM:601703 VASP skos:exactMatch ncbigene:7408 semapv:UnspecifiedMatching -OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:7098 semapv:UnspecifiedMatching -OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:CXCL9 semapv:UnspecifiedMatching -OMIM:601704 CXCL9 skos:exactMatch ncbigene:4283 semapv:UnspecifiedMatching -OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching -OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching -OMIM:601707 curry-jones syndrome skos:exactMatch Orphanet:1553 semapv:UnspecifiedMatching -OMIM:601707 curry-jones syndrome skos:exactMatch UMLS:C0795915 semapv:UnspecifiedMatching -OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:3299 semapv:UnspecifiedMatching -OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:EIF5 semapv:UnspecifiedMatching -OMIM:601710 EIF5 skos:exactMatch ncbigene:1983 semapv:UnspecifiedMatching -OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:12031 semapv:UnspecifiedMatching -OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:TRAF1 semapv:UnspecifiedMatching -OMIM:601711 TRAF1 skos:exactMatch ncbigene:7185 semapv:UnspecifiedMatching -OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:590 semapv:UnspecifiedMatching -OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:BIRC2 semapv:UnspecifiedMatching -OMIM:601712 BIRC2 skos:exactMatch ncbigene:329 semapv:UnspecifiedMatching -OMIM:601713 GMFB skos:exactMatch hgnc.symbol:4373 semapv:UnspecifiedMatching -OMIM:601713 GMFB skos:exactMatch hgnc.symbol:GMFB semapv:UnspecifiedMatching -OMIM:601713 GMFB skos:exactMatch ncbigene:2764 semapv:UnspecifiedMatching -OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:11717 semapv:UnspecifiedMatching -OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:TEAD4 semapv:UnspecifiedMatching -OMIM:601714 TEAD4 skos:exactMatch ncbigene:7004 semapv:UnspecifiedMatching -OMIM:601716 STAU1 skos:exactMatch UMLS:C1823131 semapv:UnspecifiedMatching -OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:11370 semapv:UnspecifiedMatching -OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:STAU1 semapv:UnspecifiedMatching -OMIM:601716 STAU1 skos:exactMatch ncbigene:6780 semapv:UnspecifiedMatching -OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:11445 semapv:UnspecifiedMatching -OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:STXBP2 semapv:UnspecifiedMatching -OMIM:601717 STXBP2 skos:exactMatch ncbigene:6813 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C1420614 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch UMLS:C5231525 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:11603 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:TBX4 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch ncbigene:9496 semapv:UnspecifiedMatching -OMIM:601720 KIN skos:exactMatch UMLS:C1416642 semapv:UnspecifiedMatching -OMIM:601720 KIN skos:exactMatch hgnc.symbol:6327 semapv:UnspecifiedMatching -OMIM:601720 KIN skos:exactMatch hgnc.symbol:KIN semapv:UnspecifiedMatching -OMIM:601720 KIN skos:exactMatch ncbigene:22944 semapv:UnspecifiedMatching -OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:591 semapv:UnspecifiedMatching -OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:BIRC3 semapv:UnspecifiedMatching -OMIM:601721 BIRC3 skos:exactMatch ncbigene:330 semapv:UnspecifiedMatching -OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:4043 semapv:UnspecifiedMatching -OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:FZD5 semapv:UnspecifiedMatching -OMIM:601723 FZD5 skos:exactMatch ncbigene:7855 semapv:UnspecifiedMatching -OMIM:601724 NEUROD1 skos:exactMatch hgnc.symbol:7762 semapv:UnspecifiedMatching -OMIM:601724 NEUROD1 skos:exactMatch hgnc.symbol:NEUROD1 semapv:UnspecifiedMatching -OMIM:601724 NEUROD1 skos:exactMatch ncbigene:4760 semapv:UnspecifiedMatching -OMIM:601725 NEUROD2 skos:exactMatch UMLS:C1417684 semapv:UnspecifiedMatching -OMIM:601725 NEUROD2 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching -OMIM:601725 NEUROD2 skos:exactMatch hgnc.symbol:7763 semapv:UnspecifiedMatching -OMIM:601725 NEUROD2 skos:exactMatch hgnc.symbol:NEUROD2 semapv:UnspecifiedMatching -OMIM:601725 NEUROD2 skos:exactMatch ncbigene:4761 semapv:UnspecifiedMatching -OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:7764 semapv:UnspecifiedMatching -OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:NEUROG1 semapv:UnspecifiedMatching -OMIM:601726 NEUROG1 skos:exactMatch ncbigene:4762 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C0018553 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C0025286 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C0391826 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C0694888 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C1854416 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C1866398 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C2751642 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch UMLS:C4016742 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch hgnc.symbol:9588 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch hgnc.symbol:PTEN semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch ncbigene:5728 semapv:UnspecifiedMatching -OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:11715 semapv:UnspecifiedMatching -OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:TEAD2 semapv:UnspecifiedMatching -OMIM:601729 TEAD2 skos:exactMatch ncbigene:8463 semapv:UnspecifiedMatching -OMIM:601730 PIGC skos:exactMatch hgnc.symbol:8960 semapv:UnspecifiedMatching -OMIM:601730 PIGC skos:exactMatch hgnc.symbol:PIGC semapv:UnspecifiedMatching -OMIM:601730 PIGC skos:exactMatch ncbigene:5279 semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch UMLS:C1412625 semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch UMLS:C4225570 semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch hgnc.symbol:794 semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch hgnc.symbol:ATIC semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch ncbigene:471 semapv:UnspecifiedMatching -OMIM:601732 SMARCC1 skos:exactMatch UMLS:C1335845 semapv:UnspecifiedMatching -OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:11104 semapv:UnspecifiedMatching -OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:SMARCC1 semapv:UnspecifiedMatching -OMIM:601732 SMARCC1 skos:exactMatch ncbigene:6599 semapv:UnspecifiedMatching -OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:7063 semapv:UnspecifiedMatching -OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:MGST2 semapv:UnspecifiedMatching -OMIM:601733 MGST2 skos:exactMatch ncbigene:4258 semapv:UnspecifiedMatching -OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:11105 semapv:UnspecifiedMatching -OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:SMARCC2 semapv:UnspecifiedMatching -OMIM:601734 SMARCC2 skos:exactMatch ncbigene:6601 semapv:UnspecifiedMatching -OMIM:601735 SMARCD1 skos:exactMatch UMLS:C1335847 semapv:UnspecifiedMatching -OMIM:601735 SMARCD1 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching -OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:11106 semapv:UnspecifiedMatching -OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:SMARCD1 semapv:UnspecifiedMatching -OMIM:601735 SMARCD1 skos:exactMatch ncbigene:6602 semapv:UnspecifiedMatching -OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:11107 semapv:UnspecifiedMatching -OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:SMARCD2 semapv:UnspecifiedMatching -OMIM:601736 SMARCD2 skos:exactMatch ncbigene:6603 semapv:UnspecifiedMatching -OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:11108 semapv:UnspecifiedMatching -OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:SMARCD3 semapv:UnspecifiedMatching -OMIM:601737 SMARCD3 skos:exactMatch ncbigene:6604 semapv:UnspecifiedMatching -OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:3515 semapv:UnspecifiedMatching -OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:EXTL1 semapv:UnspecifiedMatching -OMIM:601738 EXTL1 skos:exactMatch ncbigene:2134 semapv:UnspecifiedMatching -OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:7000 semapv:UnspecifiedMatching -OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:MEIS1 semapv:UnspecifiedMatching -OMIM:601739 MEIS1 skos:exactMatch ncbigene:4211 semapv:UnspecifiedMatching -OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:7001 semapv:UnspecifiedMatching -OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:MEIS2 semapv:UnspecifiedMatching -OMIM:601740 MEIS2 skos:exactMatch ncbigene:4212 semapv:UnspecifiedMatching -OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:2556 semapv:UnspecifiedMatching -OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:CUL5 semapv:UnspecifiedMatching -OMIM:601741 CUL5 skos:exactMatch ncbigene:8065 semapv:UnspecifiedMatching -OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:16384 semapv:UnspecifiedMatching -OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:TRIM28 semapv:UnspecifiedMatching -OMIM:601742 TRIM28 skos:exactMatch ncbigene:10155 semapv:UnspecifiedMatching -OMIM:601743 OSMR skos:exactMatch hgnc.symbol:8507 semapv:UnspecifiedMatching -OMIM:601743 OSMR skos:exactMatch hgnc.symbol:OSMR semapv:UnspecifiedMatching -OMIM:601743 OSMR skos:exactMatch ncbigene:9180 semapv:UnspecifiedMatching -OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:6272 semapv:UnspecifiedMatching -OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:KCNK1 semapv:UnspecifiedMatching -OMIM:601745 KCNK1 skos:exactMatch ncbigene:3775 semapv:UnspecifiedMatching -OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:16931 semapv:UnspecifiedMatching -OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:HYOU1 semapv:UnspecifiedMatching -OMIM:601746 HYOU1 skos:exactMatch ncbigene:10525 semapv:UnspecifiedMatching -OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:660 semapv:UnspecifiedMatching -OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:TRIM23 semapv:UnspecifiedMatching -OMIM:601747 TRIM23 skos:exactMatch ncbigene:373 semapv:UnspecifiedMatching -OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:4656 semapv:UnspecifiedMatching -OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:GTF2H2 semapv:UnspecifiedMatching -OMIM:601748 GTF2H2 skos:exactMatch ncbigene:2966 semapv:UnspecifiedMatching -OMIM:601749 GLMN skos:exactMatch hgnc.symbol:14373 semapv:UnspecifiedMatching -OMIM:601749 GLMN skos:exactMatch hgnc.symbol:GLMN semapv:UnspecifiedMatching -OMIM:601749 GLMN skos:exactMatch ncbigene:11146 semapv:UnspecifiedMatching -OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:4657 semapv:UnspecifiedMatching -OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:GTF2H3 semapv:UnspecifiedMatching -OMIM:601750 GTF2H3 skos:exactMatch ncbigene:2967 semapv:UnspecifiedMatching -OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:4479 semapv:UnspecifiedMatching -OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:MCHR1 semapv:UnspecifiedMatching -OMIM:601751 MCHR1 skos:exactMatch ncbigene:2847 semapv:UnspecifiedMatching -OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:3363 semapv:UnspecifiedMatching -OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:ENTPD1 semapv:UnspecifiedMatching -OMIM:601752 ENTPD1 skos:exactMatch ncbigene:953 semapv:UnspecifiedMatching -OMIM:601753 PPID skos:exactMatch hgnc.symbol:9257 semapv:UnspecifiedMatching -OMIM:601753 PPID skos:exactMatch hgnc.symbol:PPID semapv:UnspecifiedMatching -OMIM:601753 PPID skos:exactMatch ncbigene:5481 semapv:UnspecifiedMatching -OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:12520 semapv:UnspecifiedMatching -OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:UFD1 semapv:UnspecifiedMatching -OMIM:601754 UFD1L skos:exactMatch ncbigene:7353 semapv:UnspecifiedMatching -OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:16817 semapv:UnspecifiedMatching -OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:ESS2 semapv:UnspecifiedMatching -OMIM:601755 ESS2 skos:exactMatch ncbigene:8220 semapv:UnspecifiedMatching -OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:4125 semapv:UnspecifiedMatching -OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:GALNT3 semapv:UnspecifiedMatching -OMIM:601756 GALNT3 skos:exactMatch ncbigene:2591 semapv:UnspecifiedMatching -OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:8860 semapv:UnspecifiedMatching -OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:PEX7 semapv:UnspecifiedMatching -OMIM:601757 PEX7 skos:exactMatch ncbigene:5191 semapv:UnspecifiedMatching -OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:8854 semapv:UnspecifiedMatching -OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:PEX12 semapv:UnspecifiedMatching -OMIM:601758 PEX12 skos:exactMatch ncbigene:5193 semapv:UnspecifiedMatching -OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:4658 semapv:UnspecifiedMatching -OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:GTF2H4 semapv:UnspecifiedMatching -OMIM:601760 GTF2H4 skos:exactMatch ncbigene:2968 semapv:UnspecifiedMatching -OMIM:601761 CASP7 skos:exactMatch hgnc.symbol:1508 semapv:UnspecifiedMatching -OMIM:601761 CASP7 skos:exactMatch hgnc.symbol:CASP7 semapv:UnspecifiedMatching -OMIM:601761 CASP7 skos:exactMatch ncbigene:840 semapv:UnspecifiedMatching -OMIM:601762 CASP10 skos:exactMatch hgnc.symbol:1500 semapv:UnspecifiedMatching -OMIM:601762 CASP10 skos:exactMatch hgnc.symbol:CASP10 semapv:UnspecifiedMatching -OMIM:601762 CASP10 skos:exactMatch ncbigene:843 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C1332667 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C1846545 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C1968897 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch UMLS:C4016759 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:1509 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:CASP8 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch ncbigene:841 semapv:UnspecifiedMatching -OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:4047 semapv:UnspecifiedMatching -OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:FZD9 semapv:UnspecifiedMatching -OMIM:601766 FZD9 skos:exactMatch ncbigene:8326 semapv:UnspecifiedMatching -OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:4913 semapv:UnspecifiedMatching -OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:HIP1 semapv:UnspecifiedMatching -OMIM:601767 HIP1 skos:exactMatch ncbigene:3092 semapv:UnspecifiedMatching -OMIM:601768 SH3GL1 skos:exactMatch hgnc.symbol:10830 semapv:UnspecifiedMatching -OMIM:601768 SH3GL1 skos:exactMatch hgnc.symbol:SH3GL1 semapv:UnspecifiedMatching -OMIM:601768 SH3GL1 skos:exactMatch ncbigene:6455 semapv:UnspecifiedMatching -OMIM:601769 VDR skos:exactMatch hgnc.symbol:12679 semapv:UnspecifiedMatching -OMIM:601769 VDR skos:exactMatch hgnc.symbol:VDR semapv:UnspecifiedMatching -OMIM:601769 VDR skos:exactMatch ncbigene:7421 semapv:UnspecifiedMatching -OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:7959 semapv:UnspecifiedMatching -OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:NPY6R semapv:UnspecifiedMatching -OMIM:601770 NPY6R skos:exactMatch ncbigene:4888 semapv:UnspecifiedMatching -OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:2597 semapv:UnspecifiedMatching -OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:CYP1B1 semapv:UnspecifiedMatching -OMIM:601771 CYP1B1 skos:exactMatch ncbigene:1545 semapv:UnspecifiedMatching -OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:4739 semapv:UnspecifiedMatching -OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:H2AX semapv:UnspecifiedMatching -OMIM:601772 H2AFX skos:exactMatch ncbigene:3014 semapv:UnspecifiedMatching -OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:9676 semapv:UnspecifiedMatching -OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:PTPRN semapv:UnspecifiedMatching -OMIM:601773 PTPRN skos:exactMatch ncbigene:5798 semapv:UnspecifiedMatching -OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:7049 semapv:UnspecifiedMatching -OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:MGAT5 semapv:UnspecifiedMatching -OMIM:601774 MGAT5 skos:exactMatch ncbigene:4249 semapv:UnspecifiedMatching -OMIM:601778 POLRMT skos:exactMatch hgnc.symbol:9200 semapv:UnspecifiedMatching -OMIM:601778 POLRMT skos:exactMatch hgnc.symbol:POLRMT semapv:UnspecifiedMatching -OMIM:601778 POLRMT skos:exactMatch ncbigene:5442 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:228363 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching -OMIM:601782 TESK1 skos:exactMatch hgnc.symbol:11731 semapv:UnspecifiedMatching -OMIM:601782 TESK1 skos:exactMatch hgnc.symbol:TESK1 semapv:UnspecifiedMatching -OMIM:601782 TESK1 skos:exactMatch ncbigene:7016 semapv:UnspecifiedMatching -OMIM:601783 MAP6 skos:exactMatch hgnc.symbol:6868 semapv:UnspecifiedMatching -OMIM:601783 MAP6 skos:exactMatch hgnc.symbol:MAP6 semapv:UnspecifiedMatching -OMIM:601783 MAP6 skos:exactMatch ncbigene:4135 semapv:UnspecifiedMatching -OMIM:601784 ASIC2 skos:exactMatch hgnc.symbol:99 semapv:UnspecifiedMatching -OMIM:601784 ASIC2 skos:exactMatch hgnc.symbol:ASIC2 semapv:UnspecifiedMatching -OMIM:601784 ASIC2 skos:exactMatch ncbigene:40 semapv:UnspecifiedMatching -OMIM:601785 PMM2 skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching -OMIM:601785 PMM2 skos:exactMatch UMLS:C1418674 semapv:UnspecifiedMatching -OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:9115 semapv:UnspecifiedMatching -OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:PMM2 semapv:UnspecifiedMatching -OMIM:601785 PMM2 skos:exactMatch ncbigene:5373 semapv:UnspecifiedMatching -OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:9114 semapv:UnspecifiedMatching -OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:PMM1 semapv:UnspecifiedMatching -OMIM:601786 PMM1 skos:exactMatch ncbigene:5372 semapv:UnspecifiedMatching -OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:11539 semapv:UnspecifiedMatching -OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:TAF5 semapv:UnspecifiedMatching -OMIM:601787 TAF5 skos:exactMatch ncbigene:6877 semapv:UnspecifiedMatching -OMIM:601788 MSTN skos:exactMatch hgnc.symbol:4223 semapv:UnspecifiedMatching -OMIM:601788 MSTN skos:exactMatch hgnc.symbol:MSTN semapv:UnspecifiedMatching -OMIM:601788 MSTN skos:exactMatch ncbigene:2660 semapv:UnspecifiedMatching -OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:8855 semapv:UnspecifiedMatching -OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:PEX13 semapv:UnspecifiedMatching -OMIM:601789 PEX13 skos:exactMatch ncbigene:5194 semapv:UnspecifiedMatching -OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:9329 semapv:UnspecifiedMatching -OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:NPY4R semapv:UnspecifiedMatching -OMIM:601790 PPYR1 skos:exactMatch ncbigene:5540 semapv:UnspecifiedMatching -OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:8856 semapv:UnspecifiedMatching -OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:PEX14 semapv:UnspecifiedMatching -OMIM:601791 PEX14 skos:exactMatch ncbigene:5195 semapv:UnspecifiedMatching -OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:9288 semapv:UnspecifiedMatching -OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:PPP1R2 semapv:UnspecifiedMatching -OMIM:601792 PPP1R2 skos:exactMatch ncbigene:5504 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch UMLS:C1366765 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:6877 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:MAPK3 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch ncbigene:5595 semapv:UnspecifiedMatching -OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:11537 semapv:UnspecifiedMatching -OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:TAF4 semapv:UnspecifiedMatching -OMIM:601796 TAF4 skos:exactMatch ncbigene:6874 semapv:UnspecifiedMatching -OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:356 semapv:UnspecifiedMatching -OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:CRYBG1 semapv:UnspecifiedMatching -OMIM:601797 CRYBG1 skos:exactMatch ncbigene:202 semapv:UnspecifiedMatching -OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:4417 semapv:UnspecifiedMatching -OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:GNPDA1 semapv:UnspecifiedMatching -OMIM:601798 GNPDA1 skos:exactMatch ncbigene:10007 semapv:UnspecifiedMatching -OMIM:601799 PI9 skos:exactMatch hgnc.symbol:8955 semapv:UnspecifiedMatching -OMIM:601799 PI9 skos:exactMatch hgnc.symbol:SERPINB9 semapv:UnspecifiedMatching -OMIM:601799 PI9 skos:exactMatch ncbigene:5272 semapv:UnspecifiedMatching -OMIM:601801 SP2 skos:exactMatch hgnc.symbol:11207 semapv:UnspecifiedMatching -OMIM:601801 SP2 skos:exactMatch hgnc.symbol:SP2 semapv:UnspecifiedMatching -OMIM:601801 SP2 skos:exactMatch ncbigene:6668 semapv:UnspecifiedMatching -OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:4877 semapv:UnspecifiedMatching -OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:HESX1 semapv:UnspecifiedMatching -OMIM:601802 HESX1 skos:exactMatch ncbigene:8820 semapv:UnspecifiedMatching -OMIM:601804 SP3 skos:exactMatch hgnc.symbol:11208 semapv:UnspecifiedMatching -OMIM:601804 SP3 skos:exactMatch hgnc.symbol:SP3 semapv:UnspecifiedMatching -OMIM:601804 SP3 skos:exactMatch ncbigene:6670 semapv:UnspecifiedMatching -OMIM:601805 GPER1 skos:exactMatch hgnc.symbol:4485 semapv:UnspecifiedMatching -OMIM:601805 GPER1 skos:exactMatch hgnc.symbol:GPER1 semapv:UnspecifiedMatching -OMIM:601805 GPER1 skos:exactMatch ncbigene:2852 semapv:UnspecifiedMatching -OMIM:601806 MCM6 skos:exactMatch hgnc.symbol:6949 semapv:UnspecifiedMatching -OMIM:601806 MCM6 skos:exactMatch hgnc.symbol:MCM6 semapv:UnspecifiedMatching -OMIM:601806 MCM6 skos:exactMatch ncbigene:4175 semapv:UnspecifiedMatching -OMIM:601807 MMP19 skos:exactMatch hgnc.symbol:7165 semapv:UnspecifiedMatching -OMIM:601807 MMP19 skos:exactMatch hgnc.symbol:MMP19 semapv:UnspecifiedMatching -OMIM:601807 MMP19 skos:exactMatch ncbigene:4327 semapv:UnspecifiedMatching -OMIM:601810 DNA2 skos:exactMatch hgnc.symbol:2939 semapv:UnspecifiedMatching -OMIM:601810 DNA2 skos:exactMatch hgnc.symbol:DNA2 semapv:UnspecifiedMatching -OMIM:601810 DNA2 skos:exactMatch ncbigene:1763 semapv:UnspecifiedMatching -OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch Orphanet:891 semapv:UnspecifiedMatching -OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch UMLS:C1866176 semapv:UnspecifiedMatching -OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:4026 semapv:UnspecifiedMatching -OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:FXYD2 semapv:UnspecifiedMatching -OMIM:601814 FXYD2 skos:exactMatch ncbigene:486 semapv:UnspecifiedMatching -OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch Orphanet:79351 semapv:UnspecifiedMatching -OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching -OMIM:601817 NME3 skos:exactMatch UMLS:C1417742 semapv:UnspecifiedMatching -OMIM:601817 NME3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601817 NME3 skos:exactMatch hgnc.symbol:7851 semapv:UnspecifiedMatching -OMIM:601817 NME3 skos:exactMatch hgnc.symbol:NME3 semapv:UnspecifiedMatching -OMIM:601817 NME3 skos:exactMatch ncbigene:4832 semapv:UnspecifiedMatching -OMIM:601818 NME4 skos:exactMatch hgnc.symbol:7852 semapv:UnspecifiedMatching -OMIM:601818 NME4 skos:exactMatch hgnc.symbol:NME4 semapv:UnspecifiedMatching -OMIM:601818 NME4 skos:exactMatch ncbigene:4833 semapv:UnspecifiedMatching -OMIM:601819 BPTF skos:exactMatch hgnc.symbol:3581 semapv:UnspecifiedMatching -OMIM:601819 BPTF skos:exactMatch hgnc.symbol:BPTF semapv:UnspecifiedMatching -OMIM:601819 BPTF skos:exactMatch ncbigene:2186 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276580 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:79644 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C0027773 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C3888018 semapv:UnspecifiedMatching -OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:10242 semapv:UnspecifiedMatching -OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:RNY1 semapv:UnspecifiedMatching -OMIM:601821 RNY1 skos:exactMatch ncbigene:6084 semapv:UnspecifiedMatching -OMIM:601822 RNY3 skos:exactMatch UMLS:C1419590 semapv:UnspecifiedMatching -OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:10243 semapv:UnspecifiedMatching -OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:RNY3 semapv:UnspecifiedMatching -OMIM:601822 RNY3 skos:exactMatch ncbigene:6085 semapv:UnspecifiedMatching -OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:10244 semapv:UnspecifiedMatching -OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:RNY4 semapv:UnspecifiedMatching -OMIM:601823 RNY4 skos:exactMatch ncbigene:6086 semapv:UnspecifiedMatching -OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:10248 semapv:UnspecifiedMatching -OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:RNY5 semapv:UnspecifiedMatching -OMIM:601824 RNY5 skos:exactMatch ncbigene:6090 semapv:UnspecifiedMatching -OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:7714 semapv:UnspecifiedMatching -OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:NDUFS7 semapv:UnspecifiedMatching -OMIM:601825 NDUFS7 skos:exactMatch ncbigene:374291 semapv:UnspecifiedMatching -OMIM:601826 DGKD skos:exactMatch hgnc.symbol:2851 semapv:UnspecifiedMatching -OMIM:601826 DGKD skos:exactMatch hgnc.symbol:DGKD semapv:UnspecifiedMatching -OMIM:601826 DGKD skos:exactMatch ncbigene:8527 semapv:UnspecifiedMatching -OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:7981 semapv:UnspecifiedMatching -OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:NR4A2 semapv:UnspecifiedMatching -OMIM:601828 NR4A2 skos:exactMatch ncbigene:4929 semapv:UnspecifiedMatching -OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:4760 semapv:UnspecifiedMatching -OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:H2BC21 semapv:UnspecifiedMatching -OMIM:601831 HIST2H2BE skos:exactMatch ncbigene:8349 semapv:UnspecifiedMatching -OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:10331 semapv:UnspecifiedMatching -OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:RPL29 semapv:UnspecifiedMatching -OMIM:601832 RPL29 skos:exactMatch ncbigene:6159 semapv:UnspecifiedMatching -OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:352 semapv:UnspecifiedMatching -OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:AIF1 semapv:UnspecifiedMatching -OMIM:601833 AIF1 skos:exactMatch ncbigene:199 semapv:UnspecifiedMatching -OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:1609 semapv:UnspecifiedMatching -OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:CCR8 semapv:UnspecifiedMatching -OMIM:601834 CCR8 skos:exactMatch ncbigene:1237 semapv:UnspecifiedMatching -OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:1607 semapv:UnspecifiedMatching -OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:CCR6 semapv:UnspecifiedMatching -OMIM:601835 CCR6 skos:exactMatch ncbigene:1235 semapv:UnspecifiedMatching -OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:17060 semapv:UnspecifiedMatching -OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:KIFAP3 semapv:UnspecifiedMatching -OMIM:601836 KIFAP3 skos:exactMatch ncbigene:22920 semapv:UnspecifiedMatching -OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:6601 semapv:UnspecifiedMatching -OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:LIG4 semapv:UnspecifiedMatching -OMIM:601837 LIG4 skos:exactMatch ncbigene:3981 semapv:UnspecifiedMatching -OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:6177 semapv:UnspecifiedMatching -OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:ITPK1 semapv:UnspecifiedMatching -OMIM:601838 ITPK1 skos:exactMatch ncbigene:3705 semapv:UnspecifiedMatching -OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:3394 semapv:UnspecifiedMatching -OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:EPHB3 semapv:UnspecifiedMatching -OMIM:601839 EPHB3 skos:exactMatch ncbigene:2049 semapv:UnspecifiedMatching -OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:8723 semapv:UnspecifiedMatching -OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:SERPINA5 semapv:UnspecifiedMatching -OMIM:601841 SERPINA5 skos:exactMatch ncbigene:5104 semapv:UnspecifiedMatching -OMIM:601843 SLC5A5 skos:exactMatch hgnc.symbol:11040 semapv:UnspecifiedMatching -OMIM:601843 SLC5A5 skos:exactMatch hgnc.symbol:SLC5A5 semapv:UnspecifiedMatching -OMIM:601843 SLC5A5 skos:exactMatch ncbigene:6528 semapv:UnspecifiedMatching -OMIM:601844 WNK4 skos:exactMatch hgnc.symbol:14544 semapv:UnspecifiedMatching -OMIM:601844 WNK4 skos:exactMatch hgnc.symbol:WNK4 semapv:UnspecifiedMatching -OMIM:601844 WNK4 skos:exactMatch ncbigene:65266 semapv:UnspecifiedMatching -OMIM:601845 GSC2 skos:exactMatch hgnc.symbol:4613 semapv:UnspecifiedMatching -OMIM:601845 GSC2 skos:exactMatch hgnc.symbol:GSC2 semapv:UnspecifiedMatching -OMIM:601845 GSC2 skos:exactMatch ncbigene:2928 semapv:UnspecifiedMatching -OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant skos:exactMatch UMLS:C1866139 semapv:UnspecifiedMatching -OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:172 semapv:UnspecifiedMatching -OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:79304 semapv:UnspecifiedMatching -OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch UMLS:C3489789 semapv:UnspecifiedMatching -OMIM:601848 TOMM20 skos:exactMatch UMLS:C1427202 semapv:UnspecifiedMatching -OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:20947 semapv:UnspecifiedMatching -OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:TOMM20 semapv:UnspecifiedMatching -OMIM:601848 TOMM20 skos:exactMatch ncbigene:9804 semapv:UnspecifiedMatching -OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:2082 semapv:UnspecifiedMatching -OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:CLOCK semapv:UnspecifiedMatching -OMIM:601851 CLOCK skos:exactMatch ncbigene:9575 semapv:UnspecifiedMatching -OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:5348 semapv:UnspecifiedMatching -OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:ICAM5 semapv:UnspecifiedMatching -OMIM:601852 ICAM5 skos:exactMatch ncbigene:7087 semapv:UnspecifiedMatching -OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch Orphanet:1532 semapv:UnspecifiedMatching -OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch UMLS:C0795959 semapv:UnspecifiedMatching -OMIM:601854 DGKG skos:exactMatch hgnc.symbol:2853 semapv:UnspecifiedMatching -OMIM:601854 DGKG skos:exactMatch hgnc.symbol:DGKG semapv:UnspecifiedMatching -OMIM:601854 DGKG skos:exactMatch ncbigene:1608 semapv:UnspecifiedMatching -OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:681 semapv:UnspecifiedMatching -OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:ARHGEF1 semapv:UnspecifiedMatching -OMIM:601855 ARHGEF1 skos:exactMatch ncbigene:9138 semapv:UnspecifiedMatching -OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:13003 semapv:UnspecifiedMatching -OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:ZNF211 semapv:UnspecifiedMatching -OMIM:601856 ZNF211 skos:exactMatch ncbigene:10520 semapv:UnspecifiedMatching -OMIM:601858 CLGN skos:exactMatch hgnc.symbol:2060 semapv:UnspecifiedMatching -OMIM:601858 CLGN skos:exactMatch hgnc.symbol:CLGN semapv:UnspecifiedMatching -OMIM:601858 CLGN skos:exactMatch ncbigene:1047 semapv:UnspecifiedMatching -OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:5213 semapv:UnspecifiedMatching -OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:HSD17B4 semapv:UnspecifiedMatching -OMIM:601860 HSD17B4 skos:exactMatch ncbigene:3295 semapv:UnspecifiedMatching -OMIM:601861 RFXAP skos:exactMatch UMLS:C1419365 semapv:UnspecifiedMatching -OMIM:601861 RFXAP skos:exactMatch UMLS:C1859537 semapv:UnspecifiedMatching -OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:9988 semapv:UnspecifiedMatching -OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:RFXAP semapv:UnspecifiedMatching -OMIM:601861 RFXAP skos:exactMatch ncbigene:5994 semapv:UnspecifiedMatching -OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:9986 semapv:UnspecifiedMatching -OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:RFX5 semapv:UnspecifiedMatching -OMIM:601863 RFX5 skos:exactMatch ncbigene:5993 semapv:UnspecifiedMatching -OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:9082 semapv:UnspecifiedMatching -OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:PLOD2 semapv:UnspecifiedMatching -OMIM:601865 PLOD2 skos:exactMatch ncbigene:5352 semapv:UnspecifiedMatching -OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:10732 semapv:UnspecifiedMatching -OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:SEMA4D semapv:UnspecifiedMatching -OMIM:601866 SEMA4D skos:exactMatch ncbigene:10507 semapv:UnspecifiedMatching -OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:806 semapv:UnspecifiedMatching -OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:ATP1B3 semapv:UnspecifiedMatching -OMIM:601867 ATP1B3 skos:exactMatch ncbigene:483 semapv:UnspecifiedMatching -OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:16672 semapv:UnspecifiedMatching -OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:METAP2 semapv:UnspecifiedMatching -OMIM:601870 METAP2 skos:exactMatch ncbigene:10988 semapv:UnspecifiedMatching -OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:2470 semapv:UnspecifiedMatching -OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:CSRP2 semapv:UnspecifiedMatching -OMIM:601871 CSRP2 skos:exactMatch ncbigene:1466 semapv:UnspecifiedMatching -OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:11060 semapv:UnspecifiedMatching -OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:SLC7A2 semapv:UnspecifiedMatching -OMIM:601872 SLC7A2 skos:exactMatch ncbigene:6542 semapv:UnspecifiedMatching -OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:4117 semapv:UnspecifiedMatching -OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:B4GALNT1 semapv:UnspecifiedMatching -OMIM:601873 B4GALNT1 skos:exactMatch ncbigene:2583 semapv:UnspecifiedMatching -OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:17064 semapv:UnspecifiedMatching -OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:ELL2 semapv:UnspecifiedMatching -OMIM:601874 ELL2 skos:exactMatch ncbigene:22936 semapv:UnspecifiedMatching -OMIM:601877 LEFTY2 skos:exactMatch UMLS:C1537561 semapv:UnspecifiedMatching -OMIM:601877 LEFTY2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:3122 semapv:UnspecifiedMatching -OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:LEFTY2 semapv:UnspecifiedMatching -OMIM:601877 LEFTY2 skos:exactMatch ncbigene:7044 semapv:UnspecifiedMatching -OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:11810 semapv:UnspecifiedMatching -OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:KLF10 semapv:UnspecifiedMatching -OMIM:601878 KLF10 skos:exactMatch ncbigene:7071 semapv:UnspecifiedMatching -OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:6570 semapv:UnspecifiedMatching -OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:LGALS9 semapv:UnspecifiedMatching -OMIM:601879 LGALS9 skos:exactMatch ncbigene:3965 semapv:UnspecifiedMatching -OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:10647 semapv:UnspecifiedMatching -OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:CX3CL1 semapv:UnspecifiedMatching -OMIM:601880 CX3CL1 skos:exactMatch ncbigene:6376 semapv:UnspecifiedMatching -OMIM:601881 RAX skos:exactMatch hgnc.symbol:18662 semapv:UnspecifiedMatching -OMIM:601881 RAX skos:exactMatch hgnc.symbol:RAX semapv:UnspecifiedMatching -OMIM:601881 RAX skos:exactMatch ncbigene:30062 semapv:UnspecifiedMatching -OMIM:601882 DFFA skos:exactMatch hgnc.symbol:2772 semapv:UnspecifiedMatching -OMIM:601882 DFFA skos:exactMatch hgnc.symbol:DFFA semapv:UnspecifiedMatching -OMIM:601882 DFFA skos:exactMatch ncbigene:1676 semapv:UnspecifiedMatching -OMIM:601883 DFFB skos:exactMatch hgnc.symbol:2773 semapv:UnspecifiedMatching -OMIM:601883 DFFB skos:exactMatch hgnc.symbol:DFFB semapv:UnspecifiedMatching -OMIM:601883 DFFB skos:exactMatch ncbigene:1677 semapv:UnspecifiedMatching -OMIM:601885 cataract 14, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:601885 cataract 14, multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching -OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:739 semapv:UnspecifiedMatching -OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:ASCL2 semapv:UnspecifiedMatching -OMIM:601886 ASCL2 skos:exactMatch ncbigene:430 semapv:UnspecifiedMatching -OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching -OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch UMLS:C1866077 semapv:UnspecifiedMatching -OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:1007 semapv:UnspecifiedMatching -OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:NBEAP1 semapv:UnspecifiedMatching -OMIM:601889 NBEAP1 skos:exactMatch ncbigene:606 semapv:UnspecifiedMatching -OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:9618 semapv:UnspecifiedMatching -OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:PTK7 semapv:UnspecifiedMatching -OMIM:601890 PTK7 skos:exactMatch ncbigene:5754 semapv:UnspecifiedMatching -OMIM:601891 CST6 skos:exactMatch hgnc.symbol:2478 semapv:UnspecifiedMatching -OMIM:601891 CST6 skos:exactMatch hgnc.symbol:CST6 semapv:UnspecifiedMatching -OMIM:601891 CST6 skos:exactMatch ncbigene:1474 semapv:UnspecifiedMatching -OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:6396 semapv:UnspecifiedMatching -OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:KPNA3 semapv:UnspecifiedMatching -OMIM:601892 KPNA3 skos:exactMatch ncbigene:3839 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch UMLS:C1336674 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch hgnc.symbol:12303 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch hgnc.symbol:TRIO semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch ncbigene:7204 semapv:UnspecifiedMatching -OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:12032 semapv:UnspecifiedMatching -OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:TRAF2 semapv:UnspecifiedMatching -OMIM:601895 TRAF2 skos:exactMatch ncbigene:7186 semapv:UnspecifiedMatching -OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:12033 semapv:UnspecifiedMatching -OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:TRAF3 semapv:UnspecifiedMatching -OMIM:601896 TRAF3 skos:exactMatch ncbigene:7187 semapv:UnspecifiedMatching -OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:12933 semapv:UnspecifiedMatching -OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:ZNF148 semapv:UnspecifiedMatching -OMIM:601897 ZNF148 skos:exactMatch ncbigene:7707 semapv:UnspecifiedMatching -OMIM:601898 GHSR skos:exactMatch hgnc.symbol:4267 semapv:UnspecifiedMatching -OMIM:601898 GHSR skos:exactMatch hgnc.symbol:GHSR semapv:UnspecifiedMatching -OMIM:601898 GHSR skos:exactMatch ncbigene:2693 semapv:UnspecifiedMatching -OMIM:601899 STAM skos:exactMatch hgnc.symbol:11357 semapv:UnspecifiedMatching -OMIM:601899 STAM skos:exactMatch hgnc.symbol:STAM semapv:UnspecifiedMatching -OMIM:601899 STAM skos:exactMatch ncbigene:8027 semapv:UnspecifiedMatching -OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:6119 semapv:UnspecifiedMatching -OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:IRF4 semapv:UnspecifiedMatching -OMIM:601900 IRF4 skos:exactMatch ncbigene:3662 semapv:UnspecifiedMatching -OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:11069 semapv:UnspecifiedMatching -OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:SLC8A2 semapv:UnspecifiedMatching -OMIM:601901 SLC8A2 skos:exactMatch ncbigene:6543 semapv:UnspecifiedMatching -OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:8487 semapv:UnspecifiedMatching -OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:ORC1 semapv:UnspecifiedMatching -OMIM:601902 ORC1 skos:exactMatch ncbigene:4998 semapv:UnspecifiedMatching -OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:12547 semapv:UnspecifiedMatching -OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:UGT2B17 semapv:UnspecifiedMatching -OMIM:601903 UGT2B17 skos:exactMatch ncbigene:7367 semapv:UnspecifiedMatching -OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:9795 semapv:UnspecifiedMatching -OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:RABGGTA semapv:UnspecifiedMatching -OMIM:601905 RABGGTA skos:exactMatch ncbigene:5875 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch UMLS:C1421511 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch UMLS:C4310730 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:12775 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:WNT10B semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch ncbigene:7480 semapv:UnspecifiedMatching -OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:7754 semapv:UnspecifiedMatching -OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:NEO1 semapv:UnspecifiedMatching -OMIM:601907 NEO1 skos:exactMatch ncbigene:4756 semapv:UnspecifiedMatching -OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:4475 semapv:UnspecifiedMatching -OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:GPR20 semapv:UnspecifiedMatching -OMIM:601908 GPR20 skos:exactMatch ncbigene:2843 semapv:UnspecifiedMatching -OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:4476 semapv:UnspecifiedMatching -OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:GPR21 semapv:UnspecifiedMatching -OMIM:601909 GPR21 skos:exactMatch ncbigene:2844 semapv:UnspecifiedMatching -OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:4477 semapv:UnspecifiedMatching -OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:GPR22 semapv:UnspecifiedMatching -OMIM:601910 GPR22 skos:exactMatch ncbigene:2845 semapv:UnspecifiedMatching -OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:2917 semapv:UnspecifiedMatching -OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:DLX4 semapv:UnspecifiedMatching -OMIM:601911 DLX4 skos:exactMatch ncbigene:1748 semapv:UnspecifiedMatching -OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:12502 semapv:UnspecifiedMatching -OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:SUMO1 semapv:UnspecifiedMatching -OMIM:601912 SUMO1 skos:exactMatch ncbigene:7341 semapv:UnspecifiedMatching -OMIM:601913 GET3 skos:exactMatch hgnc.symbol:752 semapv:UnspecifiedMatching -OMIM:601913 GET3 skos:exactMatch hgnc.symbol:GET3 semapv:UnspecifiedMatching -OMIM:601913 GET3 skos:exactMatch ncbigene:439 semapv:UnspecifiedMatching -OMIM:601914 PRELP skos:exactMatch hgnc.symbol:9357 semapv:UnspecifiedMatching -OMIM:601914 PRELP skos:exactMatch hgnc.symbol:PRELP semapv:UnspecifiedMatching -OMIM:601914 PRELP skos:exactMatch ncbigene:5549 semapv:UnspecifiedMatching -OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:11823 semapv:UnspecifiedMatching -OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:TIMP4 semapv:UnspecifiedMatching -OMIM:601915 TIMP4 skos:exactMatch ncbigene:7079 semapv:UnspecifiedMatching -OMIM:601916 MANF skos:exactMatch hgnc.symbol:15461 semapv:UnspecifiedMatching -OMIM:601916 MANF skos:exactMatch hgnc.symbol:MANF semapv:UnspecifiedMatching -OMIM:601916 MANF skos:exactMatch ncbigene:7873 semapv:UnspecifiedMatching -OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:411 semapv:UnspecifiedMatching -OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:ALDH3B2 semapv:UnspecifiedMatching -OMIM:601917 ALDH3B2 skos:exactMatch ncbigene:222 semapv:UnspecifiedMatching -OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:4224 semapv:UnspecifiedMatching -OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:GDF9 semapv:UnspecifiedMatching -OMIM:601918 GDF9 skos:exactMatch ncbigene:2661 semapv:UnspecifiedMatching -OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:3539 semapv:UnspecifiedMatching -OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:F2RL2 semapv:UnspecifiedMatching -OMIM:601919 F2RL2 skos:exactMatch ncbigene:2151 semapv:UnspecifiedMatching -OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:6188 semapv:UnspecifiedMatching -OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:JAG1 semapv:UnspecifiedMatching -OMIM:601920 JAG1 skos:exactMatch ncbigene:182 semapv:UnspecifiedMatching -OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:485 semapv:UnspecifiedMatching -OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:ANGPT2 semapv:UnspecifiedMatching -OMIM:601922 ANGPT2 skos:exactMatch ncbigene:285 semapv:UnspecifiedMatching -OMIM:601924 COPA skos:exactMatch hgnc.symbol:2230 semapv:UnspecifiedMatching -OMIM:601924 COPA skos:exactMatch hgnc.symbol:COPA semapv:UnspecifiedMatching -OMIM:601924 COPA skos:exactMatch ncbigene:1314 semapv:UnspecifiedMatching -OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:678 semapv:UnspecifiedMatching -OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:ARHGDIA semapv:UnspecifiedMatching -OMIM:601925 ARHGDIA skos:exactMatch ncbigene:396 semapv:UnspecifiedMatching -OMIM:601926 THRSP skos:exactMatch UMLS:C1420727 semapv:UnspecifiedMatching -OMIM:601926 THRSP skos:exactMatch hgnc.symbol:11800 semapv:UnspecifiedMatching -OMIM:601926 THRSP skos:exactMatch hgnc.symbol:THRSP semapv:UnspecifiedMatching -OMIM:601926 THRSP skos:exactMatch ncbigene:7069 semapv:UnspecifiedMatching -OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching -OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch UMLS:C2677167 semapv:UnspecifiedMatching -OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:6463 semapv:UnspecifiedMatching -OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:KRT86 semapv:UnspecifiedMatching -OMIM:601928 KRT86 skos:exactMatch ncbigene:3892 semapv:UnspecifiedMatching -OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:813 semapv:UnspecifiedMatching -OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:ATP2A3 semapv:UnspecifiedMatching -OMIM:601929 ATP2A3 skos:exactMatch ncbigene:489 semapv:UnspecifiedMatching -OMIM:601930 BNC1 skos:exactMatch UMLS:C1538957 semapv:UnspecifiedMatching -OMIM:601930 BNC1 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching -OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:1081 semapv:UnspecifiedMatching -OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:BNC1 semapv:UnspecifiedMatching -OMIM:601930 BNC1 skos:exactMatch ncbigene:646 semapv:UnspecifiedMatching -OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:995 semapv:UnspecifiedMatching -OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:BCL2L2 semapv:UnspecifiedMatching -OMIM:601931 BCL2L2 skos:exactMatch ncbigene:599 semapv:UnspecifiedMatching -OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:7519 semapv:UnspecifiedMatching -OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:MUC8 semapv:UnspecifiedMatching -OMIM:601932 MUC8 skos:exactMatch ncbigene:100129528 semapv:UnspecifiedMatching -OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:2384 semapv:UnspecifiedMatching -OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:CRY1 semapv:UnspecifiedMatching -OMIM:601933 CRY1 skos:exactMatch ncbigene:1407 semapv:UnspecifiedMatching -OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:4549 semapv:UnspecifiedMatching -OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:GPS1 semapv:UnspecifiedMatching -OMIM:601934 GPS1 skos:exactMatch ncbigene:2873 semapv:UnspecifiedMatching -OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:4550 semapv:UnspecifiedMatching -OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:GPS2 semapv:UnspecifiedMatching -OMIM:601935 GPS2 skos:exactMatch ncbigene:2874 semapv:UnspecifiedMatching -OMIM:601936 PAWR skos:exactMatch hgnc.symbol:8614 semapv:UnspecifiedMatching -OMIM:601936 PAWR skos:exactMatch hgnc.symbol:PAWR semapv:UnspecifiedMatching -OMIM:601936 PAWR skos:exactMatch ncbigene:5074 semapv:UnspecifiedMatching -OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:7670 semapv:UnspecifiedMatching -OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:NCOA3 semapv:UnspecifiedMatching -OMIM:601937 NCOA3 skos:exactMatch ncbigene:8202 semapv:UnspecifiedMatching -OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:11305 semapv:UnspecifiedMatching -OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:SRPK1 semapv:UnspecifiedMatching -OMIM:601939 SRPK1 skos:exactMatch ncbigene:6732 semapv:UnspecifiedMatching -OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:10786 semapv:UnspecifiedMatching -OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:SRSF4 semapv:UnspecifiedMatching -OMIM:601940 SRSF4 skos:exactMatch ncbigene:6429 semapv:UnspecifiedMatching -OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching -OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching -OMIM:601942 iia 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching -OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:10791 semapv:UnspecifiedMatching -OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:SRSF9 semapv:UnspecifiedMatching -OMIM:601943 SRSF9 skos:exactMatch ncbigene:8683 semapv:UnspecifiedMatching -OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:10788 semapv:UnspecifiedMatching -OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:SRSF6 semapv:UnspecifiedMatching -OMIM:601944 SRSF6 skos:exactMatch ncbigene:6431 semapv:UnspecifiedMatching -OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:10790 semapv:UnspecifiedMatching -OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:SFSWAP semapv:UnspecifiedMatching -OMIM:601945 SFSWAP skos:exactMatch ncbigene:6433 semapv:UnspecifiedMatching -OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:11198 semapv:UnspecifiedMatching -OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:SOX12 semapv:UnspecifiedMatching -OMIM:601947 SOX12 skos:exactMatch ncbigene:6666 semapv:UnspecifiedMatching -OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:1404 semapv:UnspecifiedMatching -OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:CACNB4 semapv:UnspecifiedMatching -OMIM:601949 CACNB4 skos:exactMatch ncbigene:785 semapv:UnspecifiedMatching -OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:19762 semapv:UnspecifiedMatching -OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:ZFPM1 semapv:UnspecifiedMatching -OMIM:601950 ZFPM1 skos:exactMatch ncbigene:161882 semapv:UnspecifiedMatching -OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:2068 semapv:UnspecifiedMatching -OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:CLK1 semapv:UnspecifiedMatching -OMIM:601951 CLK1 skos:exactMatch ncbigene:1195 semapv:UnspecifiedMatching -OMIM:601953 CCNH skos:exactMatch hgnc.symbol:1594 semapv:UnspecifiedMatching -OMIM:601953 CCNH skos:exactMatch hgnc.symbol:CCNH semapv:UnspecifiedMatching -OMIM:601953 CCNH skos:exactMatch ncbigene:902 semapv:UnspecifiedMatching -OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:1778 semapv:UnspecifiedMatching -OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:CDK7 semapv:UnspecifiedMatching -OMIM:601955 CDK7 skos:exactMatch ncbigene:1022 semapv:UnspecifiedMatching -OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:4244 semapv:UnspecifiedMatching -OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:GFRA2 semapv:UnspecifiedMatching -OMIM:601956 GFRA2 skos:exactMatch ncbigene:2675 semapv:UnspecifiedMatching -OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:1403 semapv:UnspecifiedMatching -OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:CACNB3 semapv:UnspecifiedMatching -OMIM:601958 CACNB3 skos:exactMatch ncbigene:784 semapv:UnspecifiedMatching -OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:11399 semapv:UnspecifiedMatching -OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:NEK4 semapv:UnspecifiedMatching -OMIM:601959 NEK4 skos:exactMatch ncbigene:6787 semapv:UnspecifiedMatching -OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:10619 semapv:UnspecifiedMatching -OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:CCL20 semapv:UnspecifiedMatching -OMIM:601960 CCL20 skos:exactMatch ncbigene:6364 semapv:UnspecifiedMatching -OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:5186 semapv:UnspecifiedMatching -OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:PRMT2 semapv:UnspecifiedMatching -OMIM:601961 PRMT2 skos:exactMatch ncbigene:3275 semapv:UnspecifiedMatching -OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:11566 semapv:UnspecifiedMatching -OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:TAPBP semapv:UnspecifiedMatching -OMIM:601962 TAPBP skos:exactMatch ncbigene:6892 semapv:UnspecifiedMatching -OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:12391 semapv:UnspecifiedMatching -OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:TTC1 semapv:UnspecifiedMatching -OMIM:601963 TTC1 skos:exactMatch ncbigene:7265 semapv:UnspecifiedMatching -OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:12392 semapv:UnspecifiedMatching -OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:DNAJC7 semapv:UnspecifiedMatching -OMIM:601964 DNAJC7 skos:exactMatch ncbigene:7266 semapv:UnspecifiedMatching -OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:3167 semapv:UnspecifiedMatching -OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:S1PR3 semapv:UnspecifiedMatching -OMIM:601965 S1PR3 skos:exactMatch ncbigene:1903 semapv:UnspecifiedMatching -OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:10458 semapv:UnspecifiedMatching -OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:RSC1A1 semapv:UnspecifiedMatching -OMIM:601966 RSC1A1 skos:exactMatch ncbigene:6248 semapv:UnspecifiedMatching -OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:12787 semapv:UnspecifiedMatching -OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:WNT7B semapv:UnspecifiedMatching -OMIM:601967 WNT7B skos:exactMatch ncbigene:7477 semapv:UnspecifiedMatching -OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:12781 semapv:UnspecifiedMatching -OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:WNT2B semapv:UnspecifiedMatching -OMIM:601968 WNT2B skos:exactMatch ncbigene:7482 semapv:UnspecifiedMatching -OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:2926 semapv:UnspecifiedMatching -OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:DMBT1 semapv:UnspecifiedMatching -OMIM:601969 DMBT1 skos:exactMatch ncbigene:1755 semapv:UnspecifiedMatching -OMIM:601970 VIPR2 skos:exactMatch UMLS:C1421452 semapv:UnspecifiedMatching -OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:12695 semapv:UnspecifiedMatching -OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:VIPR2 semapv:UnspecifiedMatching -OMIM:601970 VIPR2 skos:exactMatch ncbigene:7434 semapv:UnspecifiedMatching -OMIM:601972 RORB skos:exactMatch hgnc.symbol:10259 semapv:UnspecifiedMatching -OMIM:601972 RORB skos:exactMatch hgnc.symbol:RORB semapv:UnspecifiedMatching -OMIM:601972 RORB skos:exactMatch ncbigene:6096 semapv:UnspecifiedMatching -OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:9868 semapv:UnspecifiedMatching -OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:RARRES2 semapv:UnspecifiedMatching -OMIM:601973 RARRES2 skos:exactMatch ncbigene:5919 semapv:UnspecifiedMatching -OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:3165 semapv:UnspecifiedMatching -OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:S1PR1 semapv:UnspecifiedMatching -OMIM:601974 S1PR1 skos:exactMatch ncbigene:1901 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch UMLS:C1418612 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:9023 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:PKP1 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch ncbigene:5317 semapv:UnspecifiedMatching -OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching -OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching -OMIM:601977 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching -OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:8157 semapv:UnspecifiedMatching -OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:SIGMAR1 semapv:UnspecifiedMatching -OMIM:601978 SIGMAR1 skos:exactMatch ncbigene:10280 semapv:UnspecifiedMatching -OMIM:601980 LIPF skos:exactMatch hgnc.symbol:6622 semapv:UnspecifiedMatching -OMIM:601980 LIPF skos:exactMatch hgnc.symbol:LIPF semapv:UnspecifiedMatching -OMIM:601980 LIPF skos:exactMatch ncbigene:8513 semapv:UnspecifiedMatching -OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:10048 semapv:UnspecifiedMatching -OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:RNASE6 semapv:UnspecifiedMatching -OMIM:601981 RNASE6 skos:exactMatch ncbigene:6039 semapv:UnspecifiedMatching -OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:8125 semapv:UnspecifiedMatching -OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:OGG1 semapv:UnspecifiedMatching -OMIM:601982 OGG1 skos:exactMatch ncbigene:4968 semapv:UnspecifiedMatching -OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:6863 semapv:UnspecifiedMatching -OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:MAP4K1 semapv:UnspecifiedMatching -OMIM:601983 MAP4K1 skos:exactMatch ncbigene:11184 semapv:UnspecifiedMatching -OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:7671 semapv:UnspecifiedMatching -OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:NCOA4 semapv:UnspecifiedMatching -OMIM:601984 NCOA4 skos:exactMatch ncbigene:8031 semapv:UnspecifiedMatching -OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:18782 semapv:UnspecifiedMatching -OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:CCDC6 semapv:UnspecifiedMatching -OMIM:601985 CCDC6 skos:exactMatch ncbigene:8030 semapv:UnspecifiedMatching -OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:2329 semapv:UnspecifiedMatching -OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:CPT1B semapv:UnspecifiedMatching -OMIM:601987 CPT1B skos:exactMatch ncbigene:1375 semapv:UnspecifiedMatching -OMIM:601988 LIMK2 skos:exactMatch hgnc.symbol:6614 semapv:UnspecifiedMatching -OMIM:601988 LIMK2 skos:exactMatch hgnc.symbol:LIMK2 semapv:UnspecifiedMatching -OMIM:601988 LIMK2 skos:exactMatch ncbigene:3985 semapv:UnspecifiedMatching -OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:10490 semapv:UnspecifiedMatching -OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:S100A13 semapv:UnspecifiedMatching -OMIM:601989 S100A13 skos:exactMatch ncbigene:6284 semapv:UnspecifiedMatching -OMIM:601990 TP73 skos:exactMatch hgnc.symbol:12003 semapv:UnspecifiedMatching -OMIM:601990 TP73 skos:exactMatch hgnc.symbol:TP73 semapv:UnspecifiedMatching -OMIM:601990 TP73 skos:exactMatch ncbigene:7161 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch UMLS:C1334891 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394569 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394570 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394571 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:7887 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:NOVA2 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch ncbigene:4858 semapv:UnspecifiedMatching -OMIM:601993 NCOA2 skos:exactMatch UMLS:C1334867 semapv:UnspecifiedMatching -OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:7669 semapv:UnspecifiedMatching -OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:NCOA2 semapv:UnspecifiedMatching -OMIM:601993 NCOA2 skos:exactMatch ncbigene:10499 semapv:UnspecifiedMatching -OMIM:601995 TNR skos:exactMatch hgnc.symbol:11953 semapv:UnspecifiedMatching -OMIM:601995 TNR skos:exactMatch hgnc.symbol:TNR semapv:UnspecifiedMatching -OMIM:601995 TNR skos:exactMatch ncbigene:7143 semapv:UnspecifiedMatching -OMIM:601997 BID skos:exactMatch hgnc.symbol:1050 semapv:UnspecifiedMatching -OMIM:601997 BID skos:exactMatch hgnc.symbol:BID semapv:UnspecifiedMatching -OMIM:601997 BID skos:exactMatch ncbigene:637 semapv:UnspecifiedMatching -OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:3471 semapv:UnspecifiedMatching -OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:ESRRA semapv:UnspecifiedMatching -OMIM:601998 ESRRA skos:exactMatch ncbigene:2101 semapv:UnspecifiedMatching -OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:6593 semapv:UnspecifiedMatching -OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:LHX1 semapv:UnspecifiedMatching -OMIM:601999 LHX1 skos:exactMatch ncbigene:3975 semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch UMLS:C1426947 semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:20454 semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:POLR1B semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch ncbigene:84172 semapv:UnspecifiedMatching -OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:7958 semapv:UnspecifiedMatching -OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:NPY5R semapv:UnspecifiedMatching -OMIM:602001 NPY5R skos:exactMatch ncbigene:4889 semapv:UnspecifiedMatching -OMIM:602002 ZYX skos:exactMatch hgnc.symbol:13200 semapv:UnspecifiedMatching -OMIM:602002 ZYX skos:exactMatch hgnc.symbol:ZYX semapv:UnspecifiedMatching -OMIM:602002 ZYX skos:exactMatch ncbigene:7791 semapv:UnspecifiedMatching -OMIM:602003 LRMP skos:exactMatch hgnc.symbol:6690 semapv:UnspecifiedMatching -OMIM:602003 LRMP skos:exactMatch hgnc.symbol:IRAG2 semapv:UnspecifiedMatching -OMIM:602003 LRMP skos:exactMatch ncbigene:4033 semapv:UnspecifiedMatching -OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:9617 semapv:UnspecifiedMatching -OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:PTK6 semapv:UnspecifiedMatching -OMIM:602004 PTK6 skos:exactMatch ncbigene:5753 semapv:UnspecifiedMatching -OMIM:602005 SORL1 skos:exactMatch UMLS:C1420312 semapv:UnspecifiedMatching -OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:11185 semapv:UnspecifiedMatching -OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:SORL1 semapv:UnspecifiedMatching -OMIM:602005 SORL1 skos:exactMatch ncbigene:6653 semapv:UnspecifiedMatching -OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:6887 semapv:UnspecifiedMatching -OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:MAPKAPK2 semapv:UnspecifiedMatching -OMIM:602006 MAPKAPK2 skos:exactMatch ncbigene:9261 semapv:UnspecifiedMatching -OMIM:602007 CRKL skos:exactMatch hgnc.symbol:2363 semapv:UnspecifiedMatching -OMIM:602007 CRKL skos:exactMatch hgnc.symbol:CRKL semapv:UnspecifiedMatching -OMIM:602007 CRKL skos:exactMatch ncbigene:1399 semapv:UnspecifiedMatching -OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:6402 semapv:UnspecifiedMatching -OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:IPO5 semapv:UnspecifiedMatching -OMIM:602008 IPO5 skos:exactMatch ncbigene:3843 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch UMLS:C1413648 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:2279 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:COX6A2 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch ncbigene:1339 semapv:UnspecifiedMatching -OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:10782 semapv:UnspecifiedMatching -OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:SRSF11 semapv:UnspecifiedMatching -OMIM:602010 SRSF11 skos:exactMatch ncbigene:9295 semapv:UnspecifiedMatching -OMIM:602011 suppressor of tumorigenicity 11 skos:exactMatch UMLS:C1420440 semapv:UnspecifiedMatching -OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:3364 semapv:UnspecifiedMatching -OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:ENTPD2 semapv:UnspecifiedMatching -OMIM:602012 ENTPD2 skos:exactMatch ncbigene:954 semapv:UnspecifiedMatching -OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:9194 semapv:UnspecifiedMatching -OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:POLR2G semapv:UnspecifiedMatching -OMIM:602013 POLR2G skos:exactMatch ncbigene:5436 semapv:UnspecifiedMatching -OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:8114 semapv:UnspecifiedMatching -OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:ODF2 semapv:UnspecifiedMatching -OMIM:602015 ODF2 skos:exactMatch ncbigene:4957 semapv:UnspecifiedMatching -OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:6347 semapv:UnspecifiedMatching -OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:KLF2 semapv:UnspecifiedMatching -OMIM:602016 KLF2 skos:exactMatch ncbigene:10365 semapv:UnspecifiedMatching -OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:9537 semapv:UnspecifiedMatching -OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:PSMB1 semapv:UnspecifiedMatching -OMIM:602017 PSMB1 skos:exactMatch ncbigene:5689 semapv:UnspecifiedMatching -OMIM:602018 NRTN skos:exactMatch hgnc.symbol:8007 semapv:UnspecifiedMatching -OMIM:602018 NRTN skos:exactMatch hgnc.symbol:NRTN semapv:UnspecifiedMatching -OMIM:602018 NRTN skos:exactMatch ncbigene:4902 semapv:UnspecifiedMatching -OMIM:602019 SQLE skos:exactMatch hgnc.symbol:11279 semapv:UnspecifiedMatching -OMIM:602019 SQLE skos:exactMatch hgnc.symbol:SQLE semapv:UnspecifiedMatching -OMIM:602019 SQLE skos:exactMatch ncbigene:6713 semapv:UnspecifiedMatching -OMIM:602020 MAFG skos:exactMatch UMLS:C0812300 semapv:UnspecifiedMatching -OMIM:602020 MAFG skos:exactMatch hgnc.symbol:6781 semapv:UnspecifiedMatching -OMIM:602020 MAFG skos:exactMatch hgnc.symbol:MAFG semapv:UnspecifiedMatching -OMIM:602020 MAFG skos:exactMatch ncbigene:4097 semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch UMLS:C1417581 semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:7618 semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:PPP1R12A semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch ncbigene:4659 semapv:UnspecifiedMatching -OMIM:602022 MALL skos:exactMatch hgnc.symbol:6818 semapv:UnspecifiedMatching -OMIM:602022 MALL skos:exactMatch hgnc.symbol:MALL semapv:UnspecifiedMatching -OMIM:602022 MALL skos:exactMatch ncbigene:7851 semapv:UnspecifiedMatching -OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:2027 semapv:UnspecifiedMatching -OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:CLCNKB semapv:UnspecifiedMatching -OMIM:602023 CLCNKB skos:exactMatch ncbigene:1188 semapv:UnspecifiedMatching -OMIM:602024 CLCNKA skos:exactMatch hgnc.symbol:2026 semapv:UnspecifiedMatching -OMIM:602024 CLCNKA skos:exactMatch hgnc.symbol:CLCNKA semapv:UnspecifiedMatching -OMIM:602024 CLCNKA skos:exactMatch ncbigene:1187 semapv:UnspecifiedMatching -OMIM:602026 PHYH skos:exactMatch hgnc.symbol:8940 semapv:UnspecifiedMatching -OMIM:602026 PHYH skos:exactMatch hgnc.symbol:PHYH semapv:UnspecifiedMatching -OMIM:602026 PHYH skos:exactMatch ncbigene:5264 semapv:UnspecifiedMatching -OMIM:602027 TERF2 skos:exactMatch UMLS:C1336605 semapv:UnspecifiedMatching -OMIM:602027 TERF2 skos:exactMatch hgnc.symbol:11729 semapv:UnspecifiedMatching -OMIM:602027 TERF2 skos:exactMatch hgnc.symbol:TERF2 semapv:UnspecifiedMatching -OMIM:602027 TERF2 skos:exactMatch ncbigene:7014 semapv:UnspecifiedMatching -OMIM:602030 FUT7 skos:exactMatch UMLS:C1414868 semapv:UnspecifiedMatching -OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:4018 semapv:UnspecifiedMatching -OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:FUT7 semapv:UnspecifiedMatching -OMIM:602030 FUT7 skos:exactMatch ncbigene:2529 semapv:UnspecifiedMatching -OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:8895 semapv:UnspecifiedMatching -OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:PGGT1B semapv:UnspecifiedMatching -OMIM:602031 PGGT1B skos:exactMatch ncbigene:5229 semapv:UnspecifiedMatching -OMIM:602033 EML1 skos:exactMatch hgnc.symbol:3330 semapv:UnspecifiedMatching -OMIM:602033 EML1 skos:exactMatch hgnc.symbol:EML1 semapv:UnspecifiedMatching -OMIM:602033 EML1 skos:exactMatch ncbigene:2009 semapv:UnspecifiedMatching -OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:2358 semapv:UnspecifiedMatching -OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:CRHR2 semapv:UnspecifiedMatching -OMIM:602034 CRHR2 skos:exactMatch ncbigene:1395 semapv:UnspecifiedMatching -OMIM:602035 PPP4C skos:exactMatch UMLS:C1418850 semapv:UnspecifiedMatching -OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:9319 semapv:UnspecifiedMatching -OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:PPP4C semapv:UnspecifiedMatching -OMIM:602035 PPP4C skos:exactMatch ncbigene:5531 semapv:UnspecifiedMatching -OMIM:602037 RHOH skos:exactMatch hgnc.symbol:686 semapv:UnspecifiedMatching -OMIM:602037 RHOH skos:exactMatch hgnc.symbol:RHOH semapv:UnspecifiedMatching -OMIM:602037 RHOH skos:exactMatch ncbigene:399 semapv:UnspecifiedMatching -OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:3074 semapv:UnspecifiedMatching -OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:DUSP8 semapv:UnspecifiedMatching -OMIM:602038 DUSP8 skos:exactMatch ncbigene:1850 semapv:UnspecifiedMatching -OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:3271 semapv:UnspecifiedMatching -OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:EIF3A semapv:UnspecifiedMatching -OMIM:602039 EIF3A skos:exactMatch ncbigene:8661 semapv:UnspecifiedMatching -OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:7657 semapv:UnspecifiedMatching -OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:NCAM2 semapv:UnspecifiedMatching -OMIM:602040 NCAM2 skos:exactMatch ncbigene:4685 semapv:UnspecifiedMatching -OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:7838 semapv:UnspecifiedMatching -OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:NKX3-1 semapv:UnspecifiedMatching -OMIM:602041 NKX3-1 skos:exactMatch ncbigene:4824 semapv:UnspecifiedMatching -OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:4472 semapv:UnspecifiedMatching -OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:GPR18 semapv:UnspecifiedMatching -OMIM:602042 GPR18 skos:exactMatch ncbigene:2841 semapv:UnspecifiedMatching -OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:4486 semapv:UnspecifiedMatching -OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:GPR31 semapv:UnspecifiedMatching -OMIM:602043 GPR31 skos:exactMatch ncbigene:2853 semapv:UnspecifiedMatching -OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:12519 semapv:UnspecifiedMatching -OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:UCP3 semapv:UnspecifiedMatching -OMIM:602044 UCP3 skos:exactMatch ncbigene:7352 semapv:UnspecifiedMatching -OMIM:602045 RING1 skos:exactMatch hgnc.symbol:10018 semapv:UnspecifiedMatching -OMIM:602045 RING1 skos:exactMatch hgnc.symbol:RING1 semapv:UnspecifiedMatching -OMIM:602045 RING1 skos:exactMatch ncbigene:6015 semapv:UnspecifiedMatching -OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:4606 semapv:UnspecifiedMatching -OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:PDIA3 semapv:UnspecifiedMatching -OMIM:602046 PDIA3 skos:exactMatch ncbigene:2923 semapv:UnspecifiedMatching -OMIM:602047 PDE3B skos:exactMatch UMLS:C1418419 semapv:UnspecifiedMatching -OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:8779 semapv:UnspecifiedMatching -OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:PDE3B semapv:UnspecifiedMatching -OMIM:602047 PDE3B skos:exactMatch ncbigene:5140 semapv:UnspecifiedMatching -OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:9801 semapv:UnspecifiedMatching -OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:RAC1 semapv:UnspecifiedMatching -OMIM:602048 RAC1 skos:exactMatch ncbigene:5879 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C1419228 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:9802 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:RAC2 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch ncbigene:5880 semapv:UnspecifiedMatching -OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:9803 semapv:UnspecifiedMatching -OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:RAC3 semapv:UnspecifiedMatching -OMIM:602050 RAC3 skos:exactMatch ncbigene:5881 semapv:UnspecifiedMatching -OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:8989 semapv:UnspecifiedMatching -OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:PIN1P1 semapv:UnspecifiedMatching -OMIM:602051 PIN1L skos:exactMatch ncbigene:5301 semapv:UnspecifiedMatching -OMIM:602052 GAK skos:exactMatch hgnc.symbol:4113 semapv:UnspecifiedMatching -OMIM:602052 GAK skos:exactMatch hgnc.symbol:GAK semapv:UnspecifiedMatching -OMIM:602052 GAK skos:exactMatch ncbigene:2580 semapv:UnspecifiedMatching -OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:2235 semapv:UnspecifiedMatching -OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:KLF6 semapv:UnspecifiedMatching -OMIM:602053 KLF6 skos:exactMatch ncbigene:1316 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C1420603 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch UMLS:C4016770 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:11592 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:TBX1 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch ncbigene:6899 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch UMLS:C1416450 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:6083 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:INSIG1 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch ncbigene:3638 semapv:UnspecifiedMatching -OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:2766 semapv:UnspecifiedMatching -OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:DEFB1 semapv:UnspecifiedMatching -OMIM:602056 DEFB1 skos:exactMatch ncbigene:1672 semapv:UnspecifiedMatching -OMIM:602058 PI10 skos:exactMatch hgnc.symbol:8942 semapv:UnspecifiedMatching -OMIM:602058 PI10 skos:exactMatch hgnc.symbol:SERPINB10 semapv:UnspecifiedMatching -OMIM:602058 PI10 skos:exactMatch ncbigene:5273 semapv:UnspecifiedMatching -OMIM:602059 ISLR skos:exactMatch hgnc.symbol:6133 semapv:UnspecifiedMatching -OMIM:602059 ISLR skos:exactMatch hgnc.symbol:ISLR semapv:UnspecifiedMatching -OMIM:602059 ISLR skos:exactMatch ncbigene:3671 semapv:UnspecifiedMatching -OMIM:602060 TMPRSS2 skos:exactMatch UMLS:C1336641 semapv:UnspecifiedMatching -OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:11876 semapv:UnspecifiedMatching -OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:TMPRSS2 semapv:UnspecifiedMatching -OMIM:602060 TMPRSS2 skos:exactMatch ncbigene:7113 semapv:UnspecifiedMatching -OMIM:602061 EREG skos:exactMatch hgnc.symbol:3443 semapv:UnspecifiedMatching -OMIM:602061 EREG skos:exactMatch hgnc.symbol:EREG semapv:UnspecifiedMatching -OMIM:602061 EREG skos:exactMatch ncbigene:2069 semapv:UnspecifiedMatching -OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:7824 semapv:UnspecifiedMatching -OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:NINJ1 semapv:UnspecifiedMatching -OMIM:602062 NINJ1 skos:exactMatch ncbigene:4814 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch UMLS:C1420580 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:11559 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:TALDO1 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch ncbigene:6888 semapv:UnspecifiedMatching -OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:6050 semapv:UnspecifiedMatching -OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:IMPA1 semapv:UnspecifiedMatching -OMIM:602064 IMPA1 skos:exactMatch ncbigene:3612 semapv:UnspecifiedMatching -OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:227 semapv:UnspecifiedMatching -OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:ADARB2 semapv:UnspecifiedMatching -OMIM:602065 ADARB2 skos:exactMatch ncbigene:105 semapv:UnspecifiedMatching -OMIM:602069 NRP1 skos:exactMatch hgnc.symbol:8004 semapv:UnspecifiedMatching -OMIM:602069 NRP1 skos:exactMatch hgnc.symbol:NRP1 semapv:UnspecifiedMatching -OMIM:602069 NRP1 skos:exactMatch ncbigene:8829 semapv:UnspecifiedMatching -OMIM:602070 NRP2 skos:exactMatch hgnc.symbol:8005 semapv:UnspecifiedMatching -OMIM:602070 NRP2 skos:exactMatch hgnc.symbol:NRP2 semapv:UnspecifiedMatching -OMIM:602070 NRP2 skos:exactMatch ncbigene:8828 semapv:UnspecifiedMatching -OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:2277 semapv:UnspecifiedMatching -OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:COX6A1 semapv:UnspecifiedMatching -OMIM:602072 COX6A1 skos:exactMatch ncbigene:1337 semapv:UnspecifiedMatching -OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:2673 semapv:UnspecifiedMatching -OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:DAP3 semapv:UnspecifiedMatching -OMIM:602074 DAP3 skos:exactMatch ncbigene:7818 semapv:UnspecifiedMatching -OMIM:602075 SATB1 skos:exactMatch UMLS:C1419822 semapv:UnspecifiedMatching -OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:10541 semapv:UnspecifiedMatching -OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:SATB1 semapv:UnspecifiedMatching -OMIM:602075 SATB1 skos:exactMatch ncbigene:6304 semapv:UnspecifiedMatching -OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:12716 semapv:UnspecifiedMatching -OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:TRPV1 semapv:UnspecifiedMatching -OMIM:602076 TRPV1 skos:exactMatch ncbigene:7442 semapv:UnspecifiedMatching -OMIM:602079 trimethylaminuria skos:exactMatch Orphanet:468726 semapv:UnspecifiedMatching -OMIM:602079 trimethylaminuria skos:exactMatch UMLS:C0342739 semapv:UnspecifiedMatching -OMIM:602080 paget disease of bone 2, early-onset skos:exactMatch UMLS:C4085251 semapv:UnspecifiedMatching -OMIM:602081 speech-language disorder 1 skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching -OMIM:602081 speech-language disorder 1 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching -OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:6716 semapv:UnspecifiedMatching -OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:LTBP3 semapv:UnspecifiedMatching -OMIM:602090 LTBP3 skos:exactMatch ncbigene:4054 semapv:UnspecifiedMatching -OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:6715 semapv:UnspecifiedMatching -OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:LTBP2 semapv:UnspecifiedMatching -OMIM:602091 LTBP2 skos:exactMatch ncbigene:4053 semapv:UnspecifiedMatching -OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching -OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching -OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:11015 semapv:UnspecifiedMatching -OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:SLC30A4 semapv:UnspecifiedMatching -OMIM:602095 SLC30A4 skos:exactMatch ncbigene:7782 semapv:UnspecifiedMatching -OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:9077 semapv:UnspecifiedMatching -OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:PLK1 semapv:UnspecifiedMatching -OMIM:602098 PLK1 skos:exactMatch ncbigene:5347 semapv:UnspecifiedMatching -OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:9022 semapv:UnspecifiedMatching -OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:PKNOX1 semapv:UnspecifiedMatching -OMIM:602100 PKNOX1 skos:exactMatch ncbigene:5316 semapv:UnspecifiedMatching -OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:2047 semapv:UnspecifiedMatching -OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:CLDN5 semapv:UnspecifiedMatching -OMIM:602101 CLDN5 skos:exactMatch ncbigene:7122 semapv:UnspecifiedMatching -OMIM:602102 SUPT5H skos:exactMatch UMLS:C0812268 semapv:UnspecifiedMatching -OMIM:602102 SUPT5H skos:exactMatch hgnc.symbol:11469 semapv:UnspecifiedMatching -OMIM:602102 SUPT5H skos:exactMatch hgnc.symbol:SUPT5H semapv:UnspecifiedMatching -OMIM:602102 SUPT5H skos:exactMatch ncbigene:6829 semapv:UnspecifiedMatching -OMIM:602103 TRAPPC10 skos:exactMatch hgnc.symbol:11868 semapv:UnspecifiedMatching -OMIM:602103 TRAPPC10 skos:exactMatch hgnc.symbol:TRAPPC10 semapv:UnspecifiedMatching -OMIM:602103 TRAPPC10 skos:exactMatch ncbigene:7109 semapv:UnspecifiedMatching -OMIM:602104 SH3BP2 skos:exactMatch hgnc.symbol:10825 semapv:UnspecifiedMatching -OMIM:602104 SH3BP2 skos:exactMatch hgnc.symbol:SH3BP2 semapv:UnspecifiedMatching -OMIM:602104 SH3BP2 skos:exactMatch ncbigene:6452 semapv:UnspecifiedMatching -OMIM:602105 MSH4 skos:exactMatch hgnc.symbol:7327 semapv:UnspecifiedMatching -OMIM:602105 MSH4 skos:exactMatch hgnc.symbol:MSH4 semapv:UnspecifiedMatching -OMIM:602105 MSH4 skos:exactMatch ncbigene:4438 semapv:UnspecifiedMatching -OMIM:602106 KCNJ15 skos:exactMatch hgnc.symbol:6261 semapv:UnspecifiedMatching -OMIM:602106 KCNJ15 skos:exactMatch hgnc.symbol:KCNJ15 semapv:UnspecifiedMatching -OMIM:602106 KCNJ15 skos:exactMatch ncbigene:3772 semapv:UnspecifiedMatching -OMIM:602108 MATN2 skos:exactMatch hgnc.symbol:6908 semapv:UnspecifiedMatching -OMIM:602108 MATN2 skos:exactMatch hgnc.symbol:MATN2 semapv:UnspecifiedMatching -OMIM:602108 MATN2 skos:exactMatch ncbigene:4147 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch UMLS:C1417043 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch UMLS:C1846843 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch UMLS:C3887526 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch hgnc.symbol:6909 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch hgnc.symbol:MATN3 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch ncbigene:4148 semapv:UnspecifiedMatching -OMIM:602110 SLC29A2 skos:exactMatch hgnc.symbol:11004 semapv:UnspecifiedMatching -OMIM:602110 SLC29A2 skos:exactMatch hgnc.symbol:SLC29A2 semapv:UnspecifiedMatching -OMIM:602110 SLC29A2 skos:exactMatch ncbigene:3177 semapv:UnspecifiedMatching -OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch Orphanet:1040 semapv:UnspecifiedMatching -OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch Orphanet:93356 semapv:UnspecifiedMatching -OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching -OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch UMLS:C2748495 semapv:UnspecifiedMatching -OMIM:602112 MPPED1 skos:exactMatch hgnc.symbol:1306 semapv:UnspecifiedMatching -OMIM:602112 MPPED1 skos:exactMatch hgnc.symbol:MPPED1 semapv:UnspecifiedMatching -OMIM:602112 MPPED1 skos:exactMatch ncbigene:758 semapv:UnspecifiedMatching -OMIM:602113 KMT2D skos:exactMatch hgnc.symbol:7133 semapv:UnspecifiedMatching -OMIM:602113 KMT2D skos:exactMatch hgnc.symbol:KMT2D semapv:UnspecifiedMatching -OMIM:602113 KMT2D skos:exactMatch ncbigene:8085 semapv:UnspecifiedMatching -OMIM:602115 FGF10 skos:exactMatch hgnc.symbol:3666 semapv:UnspecifiedMatching -OMIM:602115 FGF10 skos:exactMatch hgnc.symbol:FGF10 semapv:UnspecifiedMatching -OMIM:602115 FGF10 skos:exactMatch ncbigene:2255 semapv:UnspecifiedMatching -OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:24859 semapv:UnspecifiedMatching -OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:YEATS4 semapv:UnspecifiedMatching -OMIM:602116 YEATS4 skos:exactMatch ncbigene:8089 semapv:UnspecifiedMatching -OMIM:602117 NDN skos:exactMatch hgnc.symbol:7675 semapv:UnspecifiedMatching -OMIM:602117 NDN skos:exactMatch hgnc.symbol:NDN semapv:UnspecifiedMatching -OMIM:602117 NDN skos:exactMatch ncbigene:4692 semapv:UnspecifiedMatching -OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:1915 semapv:UnspecifiedMatching -OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:CHD1 semapv:UnspecifiedMatching -OMIM:602118 CHD1 skos:exactMatch ncbigene:1105 semapv:UnspecifiedMatching -OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:1917 semapv:UnspecifiedMatching -OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:CHD2 semapv:UnspecifiedMatching -OMIM:602119 CHD2 skos:exactMatch ncbigene:1106 semapv:UnspecifiedMatching -OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:1918 semapv:UnspecifiedMatching -OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:CHD3 semapv:UnspecifiedMatching -OMIM:602120 CHD3 skos:exactMatch ncbigene:1107 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1414047 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4225261 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4479674 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:2876 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:DIAPH1 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch ncbigene:1729 semapv:UnspecifiedMatching -OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:11303 semapv:UnspecifiedMatching -OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:SRP72 semapv:UnspecifiedMatching -OMIM:602122 SRP72 skos:exactMatch ncbigene:6731 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch UMLS:C1413102 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:1463 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:CAMK2G semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch ncbigene:818 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch UMLS:C1413629 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch hgnc.symbol:2260 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch hgnc.symbol:COX10 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch ncbigene:1352 semapv:UnspecifiedMatching -OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:12860 semapv:UnspecifiedMatching -OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:ZBTB14 semapv:UnspecifiedMatching -OMIM:602126 ZBTB14 skos:exactMatch ncbigene:7541 semapv:UnspecifiedMatching -OMIM:602127 SMTN skos:exactMatch hgnc.symbol:11126 semapv:UnspecifiedMatching -OMIM:602127 SMTN skos:exactMatch hgnc.symbol:SMTN semapv:UnspecifiedMatching -OMIM:602127 SMTN skos:exactMatch ncbigene:6525 semapv:UnspecifiedMatching -OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:16955 semapv:UnspecifiedMatching -OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:GAS2L1 semapv:UnspecifiedMatching -OMIM:602128 GAS2L1 skos:exactMatch ncbigene:10634 semapv:UnspecifiedMatching -OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:7609 semapv:UnspecifiedMatching -OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:MYO9B semapv:UnspecifiedMatching -OMIM:602129 MYO9B skos:exactMatch ncbigene:4650 semapv:UnspecifiedMatching -OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:6888 semapv:UnspecifiedMatching -OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:MAPKAPK3 semapv:UnspecifiedMatching -OMIM:602130 MAPKAPK3 skos:exactMatch ncbigene:7867 semapv:UnspecifiedMatching -OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:12385 semapv:UnspecifiedMatching -OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:PHLDA2 semapv:UnspecifiedMatching -OMIM:602131 PHLDA2 skos:exactMatch ncbigene:7262 semapv:UnspecifiedMatching -OMIM:602132 MIA2 skos:exactMatch UMLS:C1425512 semapv:UnspecifiedMatching -OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:18432 semapv:UnspecifiedMatching -OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:MIA2 semapv:UnspecifiedMatching -OMIM:602132 MIA2 skos:exactMatch ncbigene:4253 semapv:UnspecifiedMatching -OMIM:602133 PFAS skos:exactMatch hgnc.symbol:8863 semapv:UnspecifiedMatching -OMIM:602133 PFAS skos:exactMatch hgnc.symbol:PFAS semapv:UnspecifiedMatching -OMIM:602133 PFAS skos:exactMatch ncbigene:5198 semapv:UnspecifiedMatching -OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:14353 semapv:UnspecifiedMatching -OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:DNALI1 semapv:UnspecifiedMatching -OMIM:602135 DNALI1 skos:exactMatch ncbigene:7802 semapv:UnspecifiedMatching -OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:8850 semapv:UnspecifiedMatching -OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:PEX1 semapv:UnspecifiedMatching -OMIM:602136 PEX1 skos:exactMatch ncbigene:5189 semapv:UnspecifiedMatching -OMIM:602137 NDUFA2 skos:exactMatch UMLS:C1417622 semapv:UnspecifiedMatching -OMIM:602137 NDUFA2 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching -OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:7685 semapv:UnspecifiedMatching -OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:NDUFA2 semapv:UnspecifiedMatching -OMIM:602137 NDUFA2 skos:exactMatch ncbigene:4695 semapv:UnspecifiedMatching -OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:7690 semapv:UnspecifiedMatching -OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:NDUFA6 semapv:UnspecifiedMatching -OMIM:602138 NDUFA6 skos:exactMatch ncbigene:4700 semapv:UnspecifiedMatching -OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:7691 semapv:UnspecifiedMatching -OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:NDUFA7 semapv:UnspecifiedMatching -OMIM:602139 NDUFA7 skos:exactMatch ncbigene:4701 semapv:UnspecifiedMatching -OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:7703 semapv:UnspecifiedMatching -OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:NDUFB8 semapv:UnspecifiedMatching -OMIM:602140 NDUFB8 skos:exactMatch ncbigene:4714 semapv:UnspecifiedMatching -OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:7715 semapv:UnspecifiedMatching -OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:NDUFS8 semapv:UnspecifiedMatching -OMIM:602141 NDUFS8 skos:exactMatch ncbigene:4728 semapv:UnspecifiedMatching -OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:9060 semapv:UnspecifiedMatching -OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:PLCD1 semapv:UnspecifiedMatching -OMIM:602142 PLCD1 skos:exactMatch ncbigene:5333 semapv:UnspecifiedMatching -OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:12000 semapv:UnspecifiedMatching -OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:TP53BP2 semapv:UnspecifiedMatching -OMIM:602143 TP53BP2 skos:exactMatch ncbigene:7159 semapv:UnspecifiedMatching -OMIM:602144 BRDT skos:exactMatch hgnc.symbol:1105 semapv:UnspecifiedMatching -OMIM:602144 BRDT skos:exactMatch hgnc.symbol:BRDT semapv:UnspecifiedMatching -OMIM:602144 BRDT skos:exactMatch ncbigene:676 semapv:UnspecifiedMatching -OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:8550 semapv:UnspecifiedMatching -OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:PA2G4 semapv:UnspecifiedMatching -OMIM:602145 PA2G4 skos:exactMatch ncbigene:5036 semapv:UnspecifiedMatching -OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:21734 semapv:UnspecifiedMatching -OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:LHX4 semapv:UnspecifiedMatching -OMIM:602146 LHX4 skos:exactMatch ncbigene:89884 semapv:UnspecifiedMatching -OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:11189 semapv:UnspecifiedMatching -OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:SOX1 semapv:UnspecifiedMatching -OMIM:602148 SOX1 skos:exactMatch ncbigene:6656 semapv:UnspecifiedMatching -OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:9004 semapv:UnspecifiedMatching -OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:PITX1 semapv:UnspecifiedMatching -OMIM:602149 PITX1 skos:exactMatch ncbigene:5307 semapv:UnspecifiedMatching -OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:11094 semapv:UnspecifiedMatching -OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:SNAI2 semapv:UnspecifiedMatching -OMIM:602150 SNAI2 skos:exactMatch ncbigene:6591 semapv:UnspecifiedMatching -OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:3086 semapv:UnspecifiedMatching -OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:DVL2 semapv:UnspecifiedMatching -OMIM:602151 DVL2 skos:exactMatch ncbigene:1856 semapv:UnspecifiedMatching -OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:6458 semapv:UnspecifiedMatching -OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:KRT81 semapv:UnspecifiedMatching -OMIM:602153 KRT81 skos:exactMatch ncbigene:3887 semapv:UnspecifiedMatching -OMIM:602154 noncoding transcript 1n t cells skos:exactMatch ncbigene:7956 semapv:UnspecifiedMatching -OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:30307 semapv:UnspecifiedMatching -OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:UBXN8 semapv:UnspecifiedMatching -OMIM:602155 UBXN8 skos:exactMatch ncbigene:7993 semapv:UnspecifiedMatching -OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:7886 semapv:UnspecifiedMatching -OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:NOVA1 semapv:UnspecifiedMatching -OMIM:602157 NOVA1 skos:exactMatch ncbigene:4857 semapv:UnspecifiedMatching -OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:2080 semapv:UnspecifiedMatching -OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:CLNS1A semapv:UnspecifiedMatching -OMIM:602158 CLNS1A skos:exactMatch ncbigene:1207 semapv:UnspecifiedMatching -OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:2255 semapv:UnspecifiedMatching -OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:CORO2A semapv:UnspecifiedMatching -OMIM:602159 CORO2A skos:exactMatch ncbigene:7464 semapv:UnspecifiedMatching -OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:11751 semapv:UnspecifiedMatching -OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:TFDP2 semapv:UnspecifiedMatching -OMIM:602160 TFDP2 skos:exactMatch ncbigene:7029 semapv:UnspecifiedMatching -OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:9569 semapv:UnspecifiedMatching -OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:PSME2 semapv:UnspecifiedMatching -OMIM:602161 PSME2 skos:exactMatch ncbigene:5721 semapv:UnspecifiedMatching -OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:11487 semapv:UnspecifiedMatching -OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:SYCP1 semapv:UnspecifiedMatching -OMIM:602162 SYCP1 skos:exactMatch ncbigene:6847 semapv:UnspecifiedMatching -OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:12478 semapv:UnspecifiedMatching -OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:UBE2E2 semapv:UnspecifiedMatching -OMIM:602163 UBE2E2 skos:exactMatch ncbigene:7325 semapv:UnspecifiedMatching -OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:5299 semapv:UnspecifiedMatching -OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:HTR4 semapv:UnspecifiedMatching -OMIM:602164 HTR4 skos:exactMatch ncbigene:3360 semapv:UnspecifiedMatching -OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:9975 semapv:UnspecifiedMatching -OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:TRIM27 semapv:UnspecifiedMatching -OMIM:602165 TRIM27 skos:exactMatch ncbigene:5987 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch UMLS:C1412447 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:567 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:AP3B2 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch ncbigene:8120 semapv:UnspecifiedMatching -OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:3473 semapv:UnspecifiedMatching -OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:ESRRB semapv:UnspecifiedMatching -OMIM:602167 ESRRB skos:exactMatch ncbigene:2103 semapv:UnspecifiedMatching -OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:12718 semapv:UnspecifiedMatching -OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:VRK1 semapv:UnspecifiedMatching -OMIM:602168 VRK1 skos:exactMatch ncbigene:7443 semapv:UnspecifiedMatching -OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:12719 semapv:UnspecifiedMatching -OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:VRK2 semapv:UnspecifiedMatching -OMIM:602169 VRK2 skos:exactMatch ncbigene:7444 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch UMLS:C1417530 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch UMLS:C3549870 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:7562 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:MYD88 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch ncbigene:4615 semapv:UnspecifiedMatching -OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:4445 semapv:UnspecifiedMatching -OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:GPA33 semapv:UnspecifiedMatching -OMIM:602171 GPA33 skos:exactMatch ncbigene:10223 semapv:UnspecifiedMatching -OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:2653 semapv:UnspecifiedMatching -OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:CYP8B1 semapv:UnspecifiedMatching -OMIM:602172 CYP8B1 skos:exactMatch ncbigene:1582 semapv:UnspecifiedMatching -OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:11846 semapv:UnspecifiedMatching -OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:SEC62 semapv:UnspecifiedMatching -OMIM:602173 SEC62 skos:exactMatch ncbigene:7095 semapv:UnspecifiedMatching -OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:4480 semapv:UnspecifiedMatching -OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:GPR25 semapv:UnspecifiedMatching -OMIM:602174 GPR25 skos:exactMatch ncbigene:2848 semapv:UnspecifiedMatching -OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:9539 semapv:UnspecifiedMatching -OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:PSMB2 semapv:UnspecifiedMatching -OMIM:602175 PSMB2 skos:exactMatch ncbigene:5690 semapv:UnspecifiedMatching -OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:9540 semapv:UnspecifiedMatching -OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:PSMB3 semapv:UnspecifiedMatching -OMIM:602176 PSMB3 skos:exactMatch ncbigene:5691 semapv:UnspecifiedMatching -OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:9541 semapv:UnspecifiedMatching -OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:PSMB4 semapv:UnspecifiedMatching -OMIM:602177 PSMB4 skos:exactMatch ncbigene:5692 semapv:UnspecifiedMatching -OMIM:602178 CHAD skos:exactMatch hgnc.symbol:1909 semapv:UnspecifiedMatching -OMIM:602178 CHAD skos:exactMatch hgnc.symbol:CHAD semapv:UnspecifiedMatching -OMIM:602178 CHAD skos:exactMatch ncbigene:1101 semapv:UnspecifiedMatching -OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:5247 semapv:UnspecifiedMatching -OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:HSPB2 semapv:UnspecifiedMatching -OMIM:602179 HSPB2 skos:exactMatch ncbigene:3316 semapv:UnspecifiedMatching -OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:10885 semapv:UnspecifiedMatching -OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:SIPA1 semapv:UnspecifiedMatching -OMIM:602180 SIPA1 skos:exactMatch ncbigene:6494 semapv:UnspecifiedMatching -OMIM:602181 SND1 skos:exactMatch hgnc.symbol:30646 semapv:UnspecifiedMatching -OMIM:602181 SND1 skos:exactMatch hgnc.symbol:SND1 semapv:UnspecifiedMatching -OMIM:602181 SND1 skos:exactMatch ncbigene:27044 semapv:UnspecifiedMatching -OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:3358 semapv:UnspecifiedMatching -OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:ENPP3 semapv:UnspecifiedMatching -OMIM:602182 ENPP3 skos:exactMatch ncbigene:5169 semapv:UnspecifiedMatching -OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:951 semapv:UnspecifiedMatching -OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:NKX3-2 semapv:UnspecifiedMatching -OMIM:602183 NKX3-2 skos:exactMatch ncbigene:579 semapv:UnspecifiedMatching -OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:7719 semapv:UnspecifiedMatching -OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:NDUFV3 semapv:UnspecifiedMatching -OMIM:602184 NDUFV3 skos:exactMatch ncbigene:4731 semapv:UnspecifiedMatching -OMIM:602186 VGF skos:exactMatch hgnc.symbol:12684 semapv:UnspecifiedMatching -OMIM:602186 VGF skos:exactMatch hgnc.symbol:VGF semapv:UnspecifiedMatching -OMIM:602186 VGF skos:exactMatch ncbigene:7425 semapv:UnspecifiedMatching -OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:12986 semapv:UnspecifiedMatching -OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:ZNF195 semapv:UnspecifiedMatching -OMIM:602187 ZNF195 skos:exactMatch ncbigene:7748 semapv:UnspecifiedMatching -OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:3388 semapv:UnspecifiedMatching -OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:EPHA4 semapv:UnspecifiedMatching -OMIM:602188 EPHA4 skos:exactMatch ncbigene:2043 semapv:UnspecifiedMatching -OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:9999 semapv:UnspecifiedMatching -OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:RGS3 semapv:UnspecifiedMatching -OMIM:602189 RGS3 skos:exactMatch ncbigene:5998 semapv:UnspecifiedMatching -OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:3390 semapv:UnspecifiedMatching -OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:EPHA7 semapv:UnspecifiedMatching -OMIM:602190 EPHA7 skos:exactMatch ncbigene:2045 semapv:UnspecifiedMatching -OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:3318 semapv:UnspecifiedMatching -OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:ELF3 semapv:UnspecifiedMatching -OMIM:602191 ELF3 skos:exactMatch ncbigene:1999 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch UMLS:C0406811 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch UMLS:C1412181 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch UMLS:C4016772 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:188 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:ADAM10 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch ncbigene:102 semapv:UnspecifiedMatching -OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:11003 semapv:UnspecifiedMatching -OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:SLC29A1 semapv:UnspecifiedMatching -OMIM:602193 SLC29A1 skos:exactMatch ncbigene:2030 semapv:UnspecifiedMatching -OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:9476 semapv:UnspecifiedMatching -OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:HTRA1 semapv:UnspecifiedMatching -OMIM:602194 HTRA1 skos:exactMatch ncbigene:5654 semapv:UnspecifiedMatching -OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:5246 semapv:UnspecifiedMatching -OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:HSPB1 semapv:UnspecifiedMatching -OMIM:602195 HSPB1 skos:exactMatch ncbigene:3315 semapv:UnspecifiedMatching -OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:14002 semapv:UnspecifiedMatching -OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:CDK2AP1 semapv:UnspecifiedMatching -OMIM:602198 CDK2AP1 skos:exactMatch ncbigene:8099 semapv:UnspecifiedMatching -OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:3153 semapv:UnspecifiedMatching -OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:ECM1 semapv:UnspecifiedMatching -OMIM:602201 ECM1 skos:exactMatch ncbigene:1893 semapv:UnspecifiedMatching -OMIM:602202 DDOST skos:exactMatch hgnc.symbol:2728 semapv:UnspecifiedMatching -OMIM:602202 DDOST skos:exactMatch hgnc.symbol:DDOST semapv:UnspecifiedMatching -OMIM:602202 DDOST skos:exactMatch ncbigene:1650 semapv:UnspecifiedMatching -OMIM:602203 SLN skos:exactMatch hgnc.symbol:11089 semapv:UnspecifiedMatching -OMIM:602203 SLN skos:exactMatch hgnc.symbol:SLN semapv:UnspecifiedMatching -OMIM:602203 SLN skos:exactMatch ncbigene:6588 semapv:UnspecifiedMatching -OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:1049 semapv:UnspecifiedMatching -OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:BICD1 semapv:UnspecifiedMatching -OMIM:602204 BICD1 skos:exactMatch ncbigene:636 semapv:UnspecifiedMatching -OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:16523 semapv:UnspecifiedMatching -OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:RAB17 semapv:UnspecifiedMatching -OMIM:602206 RAB17 skos:exactMatch ncbigene:64284 semapv:UnspecifiedMatching -OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:14244 semapv:UnspecifiedMatching -OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:RAB18 semapv:UnspecifiedMatching -OMIM:602207 RAB18 skos:exactMatch ncbigene:22931 semapv:UnspecifiedMatching -OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:6256 semapv:UnspecifiedMatching -OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:KCNJ10 semapv:UnspecifiedMatching -OMIM:602208 KCNJ10 skos:exactMatch ncbigene:3766 semapv:UnspecifiedMatching -OMIM:602209 RREB1 skos:exactMatch UMLS:C1419758 semapv:UnspecifiedMatching -OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:10449 semapv:UnspecifiedMatching -OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:RREB1 semapv:UnspecifiedMatching -OMIM:602209 RREB1 skos:exactMatch ncbigene:6239 semapv:UnspecifiedMatching -OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:3277 semapv:UnspecifiedMatching -OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:EIF3E semapv:UnspecifiedMatching -OMIM:602210 EIF3E skos:exactMatch ncbigene:3646 semapv:UnspecifiedMatching -OMIM:602211 FOXD2 skos:exactMatch UMLS:C1414671 semapv:UnspecifiedMatching -OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:3803 semapv:UnspecifiedMatching -OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:FOXD2 semapv:UnspecifiedMatching -OMIM:602211 FOXD2 skos:exactMatch ncbigene:2306 semapv:UnspecifiedMatching -OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:10857 semapv:UnspecifiedMatching -OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:SIAH1 semapv:UnspecifiedMatching -OMIM:602212 SIAH1 skos:exactMatch ncbigene:6477 semapv:UnspecifiedMatching -OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:10858 semapv:UnspecifiedMatching -OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:SIAH2 semapv:UnspecifiedMatching -OMIM:602213 SIAH2 skos:exactMatch ncbigene:6478 semapv:UnspecifiedMatching -OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:2455 semapv:UnspecifiedMatching -OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:CSNK1G2 semapv:UnspecifiedMatching -OMIM:602214 CSNK1G2 skos:exactMatch ncbigene:1455 semapv:UnspecifiedMatching -OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:2767 semapv:UnspecifiedMatching -OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:DEFB4A semapv:UnspecifiedMatching -OMIM:602215 DEFB4A skos:exactMatch ncbigene:1673 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C0031269 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C0694883 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch UMLS:C4016776 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch hgnc.symbol:11389 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch hgnc.symbol:STK11 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch ncbigene:6794 semapv:UnspecifiedMatching -OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:10662 semapv:UnspecifiedMatching -OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:SDCBP semapv:UnspecifiedMatching -OMIM:602217 SDCBP skos:exactMatch ncbigene:6386 semapv:UnspecifiedMatching -OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:10524 semapv:UnspecifiedMatching -OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:SALL1 semapv:UnspecifiedMatching -OMIM:602218 SALL1 skos:exactMatch ncbigene:6299 semapv:UnspecifiedMatching -OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:10526 semapv:UnspecifiedMatching -OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:SALL2 semapv:UnspecifiedMatching -OMIM:602219 SALL2 skos:exactMatch ncbigene:6297 semapv:UnspecifiedMatching -OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:16954 semapv:UnspecifiedMatching -OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:RASL10A semapv:UnspecifiedMatching -OMIM:602220 RASL10A skos:exactMatch ncbigene:10633 semapv:UnspecifiedMatching -OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:12989 semapv:UnspecifiedMatching -OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:ZMYM2 semapv:UnspecifiedMatching -OMIM:602221 ZMYM2 skos:exactMatch ncbigene:7750 semapv:UnspecifiedMatching -OMIM:602223 EIF4EBP1 skos:exactMatch hgnc.symbol:3288 semapv:UnspecifiedMatching -OMIM:602223 EIF4EBP1 skos:exactMatch hgnc.symbol:EIF4EBP1 semapv:UnspecifiedMatching -OMIM:602223 EIF4EBP1 skos:exactMatch ncbigene:1978 semapv:UnspecifiedMatching -OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:3289 semapv:UnspecifiedMatching -OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:EIF4EBP2 semapv:UnspecifiedMatching -OMIM:602224 EIF4EBP2 skos:exactMatch ncbigene:1979 semapv:UnspecifiedMatching -OMIM:602225 CRX skos:exactMatch hgnc.symbol:2383 semapv:UnspecifiedMatching -OMIM:602225 CRX skos:exactMatch hgnc.symbol:CRX semapv:UnspecifiedMatching -OMIM:602225 CRX skos:exactMatch ncbigene:1406 semapv:UnspecifiedMatching -OMIM:602226 CD180 skos:exactMatch hgnc.symbol:6726 semapv:UnspecifiedMatching -OMIM:602226 CD180 skos:exactMatch hgnc.symbol:CD180 semapv:UnspecifiedMatching -OMIM:602226 CD180 skos:exactMatch ncbigene:4064 semapv:UnspecifiedMatching -OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:10617 semapv:UnspecifiedMatching -OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:CCL19 semapv:UnspecifiedMatching -OMIM:602227 CCL19 skos:exactMatch ncbigene:6363 semapv:UnspecifiedMatching -OMIM:602228 TCF7L2 skos:exactMatch UMLS:C1420644 semapv:UnspecifiedMatching -OMIM:602228 TCF7L2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:11641 semapv:UnspecifiedMatching -OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:TCF7L2 semapv:UnspecifiedMatching -OMIM:602228 TCF7L2 skos:exactMatch ncbigene:6934 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch UMLS:C1420317 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch UMLS:C1836727 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch UMLS:C2748472 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch UMLS:C2750452 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch UMLS:C4016778 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:11190 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:SOX10 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch ncbigene:6663 semapv:UnspecifiedMatching -OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:10822 semapv:UnspecifiedMatching -OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:SH3BGR semapv:UnspecifiedMatching -OMIM:602230 SH3BGR skos:exactMatch ncbigene:6450 semapv:UnspecifiedMatching -OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:11124 semapv:UnspecifiedMatching -OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:SUMO3 semapv:UnspecifiedMatching -OMIM:602231 SUMO3 skos:exactMatch ncbigene:6612 semapv:UnspecifiedMatching -OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:6297 semapv:UnspecifiedMatching -OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:KCNQ3 semapv:UnspecifiedMatching -OMIM:602232 KCNQ3 skos:exactMatch ncbigene:3786 semapv:UnspecifiedMatching -OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:576 semapv:UnspecifiedMatching -OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:APAF1 semapv:UnspecifiedMatching -OMIM:602233 APAF1 skos:exactMatch ncbigene:317 semapv:UnspecifiedMatching -OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:1511 semapv:UnspecifiedMatching -OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:CASP9 semapv:UnspecifiedMatching -OMIM:602234 CASP9 skos:exactMatch ncbigene:842 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch UMLS:C1416614 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149075 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:6296 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:KCNQ2 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch ncbigene:3785 semapv:UnspecifiedMatching -OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:17097 semapv:UnspecifiedMatching -OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:EXOSC2 semapv:UnspecifiedMatching -OMIM:602238 EXOSC2 skos:exactMatch ncbigene:23404 semapv:UnspecifiedMatching -OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:2603 semapv:UnspecifiedMatching -OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:CYP26A1 semapv:UnspecifiedMatching -OMIM:602239 CYP26A1 skos:exactMatch ncbigene:1592 semapv:UnspecifiedMatching -OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:12983 semapv:UnspecifiedMatching -OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:ZKSCAN8 semapv:UnspecifiedMatching -OMIM:602240 ZNF192 skos:exactMatch ncbigene:7745 semapv:UnspecifiedMatching -OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:7104 semapv:UnspecifiedMatching -OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:MIPEP semapv:UnspecifiedMatching -OMIM:602241 MIPEP skos:exactMatch ncbigene:4285 semapv:UnspecifiedMatching -OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:565 semapv:UnspecifiedMatching -OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:AP2S1 semapv:UnspecifiedMatching -OMIM:602242 AP2S1 skos:exactMatch ncbigene:1175 semapv:UnspecifiedMatching -OMIM:602243 CD151 skos:exactMatch hgnc.symbol:1630 semapv:UnspecifiedMatching -OMIM:602243 CD151 skos:exactMatch hgnc.symbol:CD151 semapv:UnspecifiedMatching -OMIM:602243 CD151 skos:exactMatch ncbigene:977 semapv:UnspecifiedMatching -OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:2959 semapv:UnspecifiedMatching -OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:DNASE1L3 semapv:UnspecifiedMatching -OMIM:602244 DNASE1L3 skos:exactMatch ncbigene:1776 semapv:UnspecifiedMatching -OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:4669 semapv:UnspecifiedMatching -OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:GTPBP1 semapv:UnspecifiedMatching -OMIM:602245 GTPBP1 skos:exactMatch ncbigene:9567 semapv:UnspecifiedMatching -OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:12984 semapv:UnspecifiedMatching -OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:ZSCAN9 semapv:UnspecifiedMatching -OMIM:602246 ZNF193 skos:exactMatch ncbigene:7746 semapv:UnspecifiedMatching -OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:11924 semapv:UnspecifiedMatching -OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:TNFRSF9 semapv:UnspecifiedMatching -OMIM:602250 TNFRSF9 skos:exactMatch ncbigene:3604 semapv:UnspecifiedMatching -OMIM:602251 TIMM10 skos:exactMatch UMLS:C1420738 semapv:UnspecifiedMatching -OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:11814 semapv:UnspecifiedMatching -OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:TIMM10 semapv:UnspecifiedMatching -OMIM:602251 TIMM10 skos:exactMatch ncbigene:26519 semapv:UnspecifiedMatching -OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:6348 semapv:UnspecifiedMatching -OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:KLF4 semapv:UnspecifiedMatching -OMIM:602253 KLF4 skos:exactMatch ncbigene:9314 semapv:UnspecifiedMatching -OMIM:602254 SRRD skos:exactMatch hgnc.symbol:33910 semapv:UnspecifiedMatching -OMIM:602254 SRRD skos:exactMatch hgnc.symbol:SRRD semapv:UnspecifiedMatching -OMIM:602254 SRRD skos:exactMatch ncbigene:402055 semapv:UnspecifiedMatching -OMIM:602255 STK25 skos:exactMatch hgnc.symbol:11404 semapv:UnspecifiedMatching -OMIM:602255 STK25 skos:exactMatch hgnc.symbol:STK25 semapv:UnspecifiedMatching -OMIM:602255 STK25 skos:exactMatch ncbigene:10494 semapv:UnspecifiedMatching -OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:9244 semapv:UnspecifiedMatching -OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:PPEF2 semapv:UnspecifiedMatching -OMIM:602256 PPEF2 skos:exactMatch ncbigene:5470 semapv:UnspecifiedMatching -OMIM:602257 SCARB2 skos:exactMatch hgnc.symbol:1665 semapv:UnspecifiedMatching -OMIM:602257 SCARB2 skos:exactMatch hgnc.symbol:SCARB2 semapv:UnspecifiedMatching -OMIM:602257 SCARB2 skos:exactMatch ncbigene:950 semapv:UnspecifiedMatching -OMIM:602259 TTC3 skos:exactMatch hgnc.symbol:12393 semapv:UnspecifiedMatching -OMIM:602259 TTC3 skos:exactMatch hgnc.symbol:TTC3 semapv:UnspecifiedMatching -OMIM:602259 TTC3 skos:exactMatch ncbigene:7267 semapv:UnspecifiedMatching -OMIM:602260 PER1 skos:exactMatch hgnc.symbol:8845 semapv:UnspecifiedMatching -OMIM:602260 PER1 skos:exactMatch hgnc.symbol:PER1 semapv:UnspecifiedMatching -OMIM:602260 PER1 skos:exactMatch ncbigene:5187 semapv:UnspecifiedMatching -OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:7161 semapv:UnspecifiedMatching -OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:MMP15 semapv:UnspecifiedMatching -OMIM:602261 MMP15 skos:exactMatch ncbigene:4324 semapv:UnspecifiedMatching -OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:7162 semapv:UnspecifiedMatching -OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:MMP16 semapv:UnspecifiedMatching -OMIM:602262 MMP16 skos:exactMatch ncbigene:4325 semapv:UnspecifiedMatching -OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:11251 semapv:UnspecifiedMatching -OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:SPOCK1 semapv:UnspecifiedMatching -OMIM:602264 SPOCK1 skos:exactMatch ncbigene:6695 semapv:UnspecifiedMatching -OMIM:602265 NEDD9 skos:exactMatch UMLS:C1417664 semapv:UnspecifiedMatching -OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:7733 semapv:UnspecifiedMatching -OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:NEDD9 semapv:UnspecifiedMatching -OMIM:602265 NEDD9 skos:exactMatch ncbigene:4739 semapv:UnspecifiedMatching -OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:215 semapv:UnspecifiedMatching -OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:ADAM8 semapv:UnspecifiedMatching -OMIM:602267 ADAM8 skos:exactMatch ncbigene:101 semapv:UnspecifiedMatching -OMIM:602268 AOC2 skos:exactMatch hgnc.symbol:549 semapv:UnspecifiedMatching -OMIM:602268 AOC2 skos:exactMatch hgnc.symbol:AOC2 semapv:UnspecifiedMatching -OMIM:602268 AOC2 skos:exactMatch ncbigene:314 semapv:UnspecifiedMatching -OMIM:602269 ARVCF skos:exactMatch UMLS:C1412567 semapv:UnspecifiedMatching -OMIM:602269 ARVCF skos:exactMatch hgnc.symbol:728 semapv:UnspecifiedMatching -OMIM:602269 ARVCF skos:exactMatch hgnc.symbol:ARVCF semapv:UnspecifiedMatching -OMIM:602269 ARVCF skos:exactMatch ncbigene:421 semapv:UnspecifiedMatching -OMIM:602270 ATOX1 skos:exactMatch hgnc.symbol:798 semapv:UnspecifiedMatching -OMIM:602270 ATOX1 skos:exactMatch hgnc.symbol:ATOX1 semapv:UnspecifiedMatching -OMIM:602270 ATOX1 skos:exactMatch ncbigene:475 semapv:UnspecifiedMatching -OMIM:602272 TCF4 skos:exactMatch hgnc.symbol:11634 semapv:UnspecifiedMatching -OMIM:602272 TCF4 skos:exactMatch hgnc.symbol:TCF4 semapv:UnspecifiedMatching -OMIM:602272 TCF4 skos:exactMatch ncbigene:6925 semapv:UnspecifiedMatching -OMIM:602273 GALNT1 skos:exactMatch hgnc.symbol:4123 semapv:UnspecifiedMatching -OMIM:602273 GALNT1 skos:exactMatch hgnc.symbol:GALNT1 semapv:UnspecifiedMatching -OMIM:602273 GALNT1 skos:exactMatch ncbigene:2589 semapv:UnspecifiedMatching -OMIM:602274 GALNT2 skos:exactMatch UMLS:C1414952 semapv:UnspecifiedMatching -OMIM:602274 GALNT2 skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching -OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:4124 semapv:UnspecifiedMatching -OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:GALNT2 semapv:UnspecifiedMatching -OMIM:602274 GALNT2 skos:exactMatch ncbigene:2590 semapv:UnspecifiedMatching -OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:4679 semapv:UnspecifiedMatching -OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:GUCA1B semapv:UnspecifiedMatching -OMIM:602275 GUCA1B skos:exactMatch ncbigene:2979 semapv:UnspecifiedMatching -OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:11531 semapv:UnspecifiedMatching -OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:TADA2A semapv:UnspecifiedMatching -OMIM:602276 TADA2A skos:exactMatch ncbigene:6871 semapv:UnspecifiedMatching -OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:12975 semapv:UnspecifiedMatching -OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:ZNF184 semapv:UnspecifiedMatching -OMIM:602277 ZNF184 skos:exactMatch ncbigene:7738 semapv:UnspecifiedMatching -OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:7727 semapv:UnspecifiedMatching -OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:NEDD4 semapv:UnspecifiedMatching -OMIM:602278 NEDD4 skos:exactMatch ncbigene:4734 semapv:UnspecifiedMatching -OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:8565 semapv:UnspecifiedMatching -OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:PABPN1 semapv:UnspecifiedMatching -OMIM:602279 PABPN1 skos:exactMatch ncbigene:8106 semapv:UnspecifiedMatching -OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:12423 semapv:UnspecifiedMatching -OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:TULP1 semapv:UnspecifiedMatching -OMIM:602280 TULP1 skos:exactMatch ncbigene:7287 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch UMLS:C1334502 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:7036 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:MFGE8 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch ncbigene:4240 semapv:UnspecifiedMatching -OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:3166 semapv:UnspecifiedMatching -OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:LPAR1 semapv:UnspecifiedMatching -OMIM:602282 LPAR1 skos:exactMatch ncbigene:1902 semapv:UnspecifiedMatching -OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:10635 semapv:UnspecifiedMatching -OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:CCL8 semapv:UnspecifiedMatching -OMIM:602283 CCL8 skos:exactMatch ncbigene:6355 semapv:UnspecifiedMatching -OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:1075 semapv:UnspecifiedMatching -OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:BMP8B semapv:UnspecifiedMatching -OMIM:602284 BMP8B skos:exactMatch ncbigene:656 semapv:UnspecifiedMatching -OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:7163 semapv:UnspecifiedMatching -OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:MMP17 semapv:UnspecifiedMatching -OMIM:602285 MMP17 skos:exactMatch ncbigene:4326 semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch UMLS:C1419827 semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch hgnc.symbol:10547 semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch hgnc.symbol:SC5D semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch ncbigene:6309 semapv:UnspecifiedMatching -OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:13799 semapv:UnspecifiedMatching -OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:ERP29 semapv:UnspecifiedMatching -OMIM:602287 ERP29 skos:exactMatch ncbigene:10961 semapv:UnspecifiedMatching -OMIM:602288 RTKN skos:exactMatch hgnc.symbol:10466 semapv:UnspecifiedMatching -OMIM:602288 RTKN skos:exactMatch hgnc.symbol:RTKN semapv:UnspecifiedMatching -OMIM:602288 RTKN skos:exactMatch ncbigene:6242 semapv:UnspecifiedMatching -OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:3019 semapv:UnspecifiedMatching -OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:DRAP1 semapv:UnspecifiedMatching -OMIM:602289 DRAP1 skos:exactMatch ncbigene:10589 semapv:UnspecifiedMatching -OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:16380 semapv:UnspecifiedMatching -OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:TRIM32 semapv:UnspecifiedMatching -OMIM:602290 TRIM32 skos:exactMatch ncbigene:22954 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch UMLS:C1414683 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231528 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231529 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:3816 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:FOXJ1 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch ncbigene:2302 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch UMLS:C1414247 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:3151 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:ECHS1 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch ncbigene:1892 semapv:UnspecifiedMatching -OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:16920 semapv:UnspecifiedMatching -OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:CIB1 semapv:UnspecifiedMatching -OMIM:602293 CIB1 skos:exactMatch ncbigene:10519 semapv:UnspecifiedMatching -OMIM:602294 FOXA1 skos:exactMatch UMLS:C1415626 semapv:UnspecifiedMatching -OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:5021 semapv:UnspecifiedMatching -OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:FOXA1 semapv:UnspecifiedMatching -OMIM:602294 FOXA1 skos:exactMatch ncbigene:3169 semapv:UnspecifiedMatching -OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:5023 semapv:UnspecifiedMatching -OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:FOXA3 semapv:UnspecifiedMatching -OMIM:602295 FOXA3 skos:exactMatch ncbigene:3171 semapv:UnspecifiedMatching -OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:574 semapv:UnspecifiedMatching -OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:AP4M1 semapv:UnspecifiedMatching -OMIM:602296 AP4M1 skos:exactMatch ncbigene:9179 semapv:UnspecifiedMatching -OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:3228 semapv:UnspecifiedMatching -OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:EFNB3 semapv:UnspecifiedMatching -OMIM:602297 EFNB3 skos:exactMatch ncbigene:1949 semapv:UnspecifiedMatching -OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:9788 semapv:UnspecifiedMatching -OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:RAB7A semapv:UnspecifiedMatching -OMIM:602298 RAB7 skos:exactMatch ncbigene:7879 semapv:UnspecifiedMatching -OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:24240 semapv:UnspecifiedMatching -OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:GAL3ST1 semapv:UnspecifiedMatching -OMIM:602300 GAL3ST1 skos:exactMatch ncbigene:9514 semapv:UnspecifiedMatching -OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:4201 semapv:UnspecifiedMatching -OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:KAT2A semapv:UnspecifiedMatching -OMIM:602301 KAT2A skos:exactMatch ncbigene:2648 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C1415713 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C1859592 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C1859877 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch hgnc.symbol:5172 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch hgnc.symbol:HR semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch ncbigene:55806 semapv:UnspecifiedMatching -OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:8638 semapv:UnspecifiedMatching -OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:KAT2B semapv:UnspecifiedMatching -OMIM:602303 KAT2B skos:exactMatch ncbigene:8850 semapv:UnspecifiedMatching -OMIM:602304 NR1D2 skos:exactMatch UMLS:C1417822 semapv:UnspecifiedMatching -OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:7963 semapv:UnspecifiedMatching -OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:NR1D2 semapv:UnspecifiedMatching -OMIM:602304 NR1D2 skos:exactMatch ncbigene:9975 semapv:UnspecifiedMatching -OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:9769 semapv:UnspecifiedMatching -OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:RGL2 semapv:UnspecifiedMatching -OMIM:602306 RGL2 skos:exactMatch ncbigene:5863 semapv:UnspecifiedMatching -OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:17004 semapv:UnspecifiedMatching -OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:WWP1 semapv:UnspecifiedMatching -OMIM:602307 WWP1 skos:exactMatch ncbigene:11059 semapv:UnspecifiedMatching -OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:16804 semapv:UnspecifiedMatching -OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:WWP2 semapv:UnspecifiedMatching -OMIM:602308 WWP2 skos:exactMatch ncbigene:11060 semapv:UnspecifiedMatching -OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:12424 semapv:UnspecifiedMatching -OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:TULP2 semapv:UnspecifiedMatching -OMIM:602309 TULP2 skos:exactMatch ncbigene:7288 semapv:UnspecifiedMatching -OMIM:602310 RBMS1 skos:exactMatch UMLS:C1419305 semapv:UnspecifiedMatching -OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:9907 semapv:UnspecifiedMatching -OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:RBMS1 semapv:UnspecifiedMatching -OMIM:602310 RBMS1 skos:exactMatch ncbigene:5937 semapv:UnspecifiedMatching -OMIM:602311 AGRP skos:exactMatch hgnc.symbol:330 semapv:UnspecifiedMatching -OMIM:602311 AGRP skos:exactMatch hgnc.symbol:AGRP semapv:UnspecifiedMatching -OMIM:602311 AGRP skos:exactMatch ncbigene:181 semapv:UnspecifiedMatching -OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:8525 semapv:UnspecifiedMatching -OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:OVOL1 semapv:UnspecifiedMatching -OMIM:602313 OVOL1 skos:exactMatch ncbigene:5017 semapv:UnspecifiedMatching -OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:6472 semapv:UnspecifiedMatching -OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:LAD1 semapv:UnspecifiedMatching -OMIM:602314 LAD1 skos:exactMatch ncbigene:3898 semapv:UnspecifiedMatching -OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:6843 semapv:UnspecifiedMatching -OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:MAP2K3 semapv:UnspecifiedMatching -OMIM:602315 MAP2K3 skos:exactMatch ncbigene:5606 semapv:UnspecifiedMatching -OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:16753 semapv:UnspecifiedMatching -OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:PRDX6 semapv:UnspecifiedMatching -OMIM:602316 PRDX6 skos:exactMatch ncbigene:9588 semapv:UnspecifiedMatching -OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:11353 semapv:UnspecifiedMatching -OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:STAC semapv:UnspecifiedMatching -OMIM:602317 STAC1 skos:exactMatch ncbigene:6769 semapv:UnspecifiedMatching -OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:21463 semapv:UnspecifiedMatching -OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:MTERF1 semapv:UnspecifiedMatching -OMIM:602318 MTERF1 skos:exactMatch ncbigene:7978 semapv:UnspecifiedMatching -OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:7750 semapv:UnspecifiedMatching -OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:NELL1 semapv:UnspecifiedMatching -OMIM:602319 NELL1 skos:exactMatch ncbigene:4745 semapv:UnspecifiedMatching -OMIM:602320 NELL2 skos:exactMatch UMLS:C1417677 semapv:UnspecifiedMatching -OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:7751 semapv:UnspecifiedMatching -OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:NELL2 semapv:UnspecifiedMatching -OMIM:602320 NELL2 skos:exactMatch ncbigene:4753 semapv:UnspecifiedMatching -OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:16906 semapv:UnspecifiedMatching -OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:GSTK1 semapv:UnspecifiedMatching -OMIM:602321 GSTK1 skos:exactMatch ncbigene:373156 semapv:UnspecifiedMatching -OMIM:602322 TERC skos:exactMatch hgnc.symbol:11727 semapv:UnspecifiedMatching -OMIM:602322 TERC skos:exactMatch hgnc.symbol:TERC semapv:UnspecifiedMatching -OMIM:602322 TERC skos:exactMatch ncbigene:7012 semapv:UnspecifiedMatching -OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:6258 semapv:UnspecifiedMatching -OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:KCNJ12 semapv:UnspecifiedMatching -OMIM:602323 KCNJ12 skos:exactMatch ncbigene:3768 semapv:UnspecifiedMatching -OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:5043 semapv:UnspecifiedMatching -OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:HNRNPH3 semapv:UnspecifiedMatching -OMIM:602324 HNRNPH3 skos:exactMatch ncbigene:3189 semapv:UnspecifiedMatching -OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:3297 semapv:UnspecifiedMatching -OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:EIF4G2 semapv:UnspecifiedMatching -OMIM:602325 EIF4G2 skos:exactMatch ncbigene:1982 semapv:UnspecifiedMatching -OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:10317 semapv:UnspecifiedMatching -OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:RPL23A semapv:UnspecifiedMatching -OMIM:602326 RPL23A skos:exactMatch ncbigene:6147 semapv:UnspecifiedMatching -OMIM:602327 PSD skos:exactMatch hgnc.symbol:9507 semapv:UnspecifiedMatching -OMIM:602327 PSD skos:exactMatch hgnc.symbol:PSD semapv:UnspecifiedMatching -OMIM:602327 PSD skos:exactMatch ncbigene:5662 semapv:UnspecifiedMatching -OMIM:602329 SEL1L skos:exactMatch UMLS:C1419939 semapv:UnspecifiedMatching -OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:10717 semapv:UnspecifiedMatching -OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:SEL1L semapv:UnspecifiedMatching -OMIM:602329 SEL1L skos:exactMatch ncbigene:6400 semapv:UnspecifiedMatching -OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:78 semapv:UnspecifiedMatching -OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:ABLIM1 semapv:UnspecifiedMatching -OMIM:602330 ABLIM1 skos:exactMatch ncbigene:3983 semapv:UnspecifiedMatching -OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:8491 semapv:UnspecifiedMatching -OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:ORC5 semapv:UnspecifiedMatching -OMIM:602331 ORC5 skos:exactMatch ncbigene:5001 semapv:UnspecifiedMatching -OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:1112 semapv:UnspecifiedMatching -OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:NCAPH semapv:UnspecifiedMatching -OMIM:602332 NCAPH skos:exactMatch ncbigene:23397 semapv:UnspecifiedMatching -OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:3333 semapv:UnspecifiedMatching -OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:EMP1 semapv:UnspecifiedMatching -OMIM:602333 EMP1 skos:exactMatch ncbigene:2012 semapv:UnspecifiedMatching -OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:3334 semapv:UnspecifiedMatching -OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:EMP2 semapv:UnspecifiedMatching -OMIM:602334 EMP2 skos:exactMatch ncbigene:2013 semapv:UnspecifiedMatching -OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:3335 semapv:UnspecifiedMatching -OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:EMP3 semapv:UnspecifiedMatching -OMIM:602335 EMP3 skos:exactMatch ncbigene:2014 semapv:UnspecifiedMatching -OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:10256 semapv:UnspecifiedMatching -OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:ROR1 semapv:UnspecifiedMatching -OMIM:602336 ROR1 skos:exactMatch ncbigene:4919 semapv:UnspecifiedMatching -OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:10257 semapv:UnspecifiedMatching -OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:ROR2 semapv:UnspecifiedMatching -OMIM:602337 ROR2 skos:exactMatch ncbigene:4920 semapv:UnspecifiedMatching -OMIM:602338 PRPF4B skos:exactMatch hgnc.symbol:PRP4K semapv:UnspecifiedMatching -OMIM:602338 PRPF4B skos:exactMatch ncbigene:8899 semapv:UnspecifiedMatching -OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:10921 semapv:UnspecifiedMatching -OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:SLC15A2 semapv:UnspecifiedMatching -OMIM:602339 SLC15A2 skos:exactMatch ncbigene:6565 semapv:UnspecifiedMatching -OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:3818 semapv:UnspecifiedMatching -OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:FOXM1 semapv:UnspecifiedMatching -OMIM:602341 FOXM1 skos:exactMatch ncbigene:2305 semapv:UnspecifiedMatching -OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:12333 semapv:UnspecifiedMatching -OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:TRPC1 semapv:UnspecifiedMatching -OMIM:602343 TRPC1 skos:exactMatch ncbigene:7220 semapv:UnspecifiedMatching -OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:8579 semapv:UnspecifiedMatching -OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:PAFAH2 semapv:UnspecifiedMatching -OMIM:602344 PAFAH2 skos:exactMatch ncbigene:5051 semapv:UnspecifiedMatching -OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:12335 semapv:UnspecifiedMatching -OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:TRPC3 semapv:UnspecifiedMatching -OMIM:602345 TRPC3 skos:exactMatch ncbigene:7222 semapv:UnspecifiedMatching -OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:8011 semapv:UnspecifiedMatching -OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:CNTNAP1 semapv:UnspecifiedMatching -OMIM:602346 CNTNAP1 skos:exactMatch ncbigene:8506 semapv:UnspecifiedMatching -OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:11136 semapv:UnspecifiedMatching -OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:SNAPC3 semapv:UnspecifiedMatching -OMIM:602348 SNAPC3 skos:exactMatch ncbigene:6619 semapv:UnspecifiedMatching -OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:8030 semapv:UnspecifiedMatching -OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:NTN3 semapv:UnspecifiedMatching -OMIM:602349 NTN3 skos:exactMatch ncbigene:4917 semapv:UnspecifiedMatching -OMIM:602350 NRGN skos:exactMatch hgnc.symbol:8000 semapv:UnspecifiedMatching -OMIM:602350 NRGN skos:exactMatch hgnc.symbol:NRGN semapv:UnspecifiedMatching -OMIM:602350 NRGN skos:exactMatch ncbigene:4900 semapv:UnspecifiedMatching -OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:2121 semapv:UnspecifiedMatching -OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:CMKLR1 semapv:UnspecifiedMatching -OMIM:602351 CMKLR1 skos:exactMatch ncbigene:1240 semapv:UnspecifiedMatching -OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:4420 semapv:UnspecifiedMatching -OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:GNRH2 semapv:UnspecifiedMatching -OMIM:602352 GNRH2 skos:exactMatch ncbigene:2797 semapv:UnspecifiedMatching -OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:11767 semapv:UnspecifiedMatching -OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:TGFB1I1 semapv:UnspecifiedMatching -OMIM:602353 TGFB1I1 skos:exactMatch ncbigene:7041 semapv:UnspecifiedMatching -OMIM:602354 LAT skos:exactMatch hgnc.symbol:18874 semapv:UnspecifiedMatching -OMIM:602354 LAT skos:exactMatch hgnc.symbol:LAT semapv:UnspecifiedMatching -OMIM:602354 LAT skos:exactMatch ncbigene:27040 semapv:UnspecifiedMatching -OMIM:602355 TRAF6 skos:exactMatch UMLS:C1336666 semapv:UnspecifiedMatching -OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:12036 semapv:UnspecifiedMatching -OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:TRAF6 semapv:UnspecifiedMatching -OMIM:602355 TRAF6 skos:exactMatch ncbigene:7189 semapv:UnspecifiedMatching -OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:12035 semapv:UnspecifiedMatching -OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:TRAF5 semapv:UnspecifiedMatching -OMIM:602356 TRAF5 skos:exactMatch ncbigene:7188 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch UMLS:C1823857 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:12736 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:WIPF1 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch ncbigene:7456 semapv:UnspecifiedMatching -OMIM:602358 HCRT skos:exactMatch hgnc.symbol:4847 semapv:UnspecifiedMatching -OMIM:602358 HCRT skos:exactMatch hgnc.symbol:HCRT semapv:UnspecifiedMatching -OMIM:602358 HCRT skos:exactMatch ncbigene:3060 semapv:UnspecifiedMatching -OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:4025 semapv:UnspecifiedMatching -OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:FXYD1 semapv:UnspecifiedMatching -OMIM:602359 FXYD1 skos:exactMatch ncbigene:5348 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch UMLS:C1414997 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch UMLS:C2675179 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch hgnc.symbol:4175 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch hgnc.symbol:GATM semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch ncbigene:2628 semapv:UnspecifiedMatching -OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:9854 semapv:UnspecifiedMatching -OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:RANGAP1 semapv:UnspecifiedMatching -OMIM:602362 RANGAP1 skos:exactMatch ncbigene:5905 semapv:UnspecifiedMatching -OMIM:602364 CTSW skos:exactMatch hgnc.symbol:2546 semapv:UnspecifiedMatching -OMIM:602364 CTSW skos:exactMatch hgnc.symbol:CTSW semapv:UnspecifiedMatching -OMIM:602364 CTSW skos:exactMatch ncbigene:1521 semapv:UnspecifiedMatching -OMIM:602365 CTSC skos:exactMatch hgnc.symbol:2528 semapv:UnspecifiedMatching -OMIM:602365 CTSC skos:exactMatch hgnc.symbol:CTSC semapv:UnspecifiedMatching -OMIM:602365 CTSC skos:exactMatch ncbigene:1075 semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch UMLS:C1334128 semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch hgnc.symbol:6040 semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch hgnc.symbol:ILK semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch ncbigene:3611 semapv:UnspecifiedMatching -OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:7952 semapv:UnspecifiedMatching -OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:NPTX1 semapv:UnspecifiedMatching -OMIM:602367 NPTX1 skos:exactMatch ncbigene:4884 semapv:UnspecifiedMatching -OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:4576 semapv:UnspecifiedMatching -OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:GRID2 semapv:UnspecifiedMatching -OMIM:602368 GRID2 skos:exactMatch ncbigene:2895 semapv:UnspecifiedMatching -OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:2654 semapv:UnspecifiedMatching -OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:CCN1 semapv:UnspecifiedMatching -OMIM:602369 CCN1 skos:exactMatch ncbigene:3491 semapv:UnspecifiedMatching -OMIM:602370 GML skos:exactMatch hgnc.symbol:4375 semapv:UnspecifiedMatching -OMIM:602370 GML skos:exactMatch hgnc.symbol:GML semapv:UnspecifiedMatching -OMIM:602370 GML skos:exactMatch ncbigene:2765 semapv:UnspecifiedMatching -OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:3570 semapv:UnspecifiedMatching -OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:ACSL3 semapv:UnspecifiedMatching -OMIM:602371 ACSL3 skos:exactMatch ncbigene:2181 semapv:UnspecifiedMatching -OMIM:602372 ZAN skos:exactMatch hgnc.symbol:12857 semapv:UnspecifiedMatching -OMIM:602372 ZAN skos:exactMatch hgnc.symbol:ZAN semapv:UnspecifiedMatching -OMIM:602372 ZAN skos:exactMatch ncbigene:7455 semapv:UnspecifiedMatching -OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:2156 semapv:UnspecifiedMatching -OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:CNN2 semapv:UnspecifiedMatching -OMIM:602373 CNN2 skos:exactMatch ncbigene:1265 semapv:UnspecifiedMatching -OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:2157 semapv:UnspecifiedMatching -OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:CNN3 semapv:UnspecifiedMatching -OMIM:602374 CNN3 skos:exactMatch ncbigene:1266 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch UMLS:C1419694 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:10378 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:MRPL12 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch ncbigene:6182 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1334082 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch UMLS:C4225252 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:5433 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:IFNAR2 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch ncbigene:3455 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch UMLS:C1414118 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:2972 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:DNM1 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch ncbigene:1759 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch UMLS:C1414120 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch UMLS:C1847902 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch UMLS:C4551952 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:2974 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:DNM2 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch ncbigene:1785 semapv:UnspecifiedMatching -OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:12578 semapv:UnspecifiedMatching -OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:UPK1B semapv:UnspecifiedMatching -OMIM:602380 UPK1B skos:exactMatch ncbigene:7348 semapv:UnspecifiedMatching -OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:7627 semapv:UnspecifiedMatching -OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:NAB2 semapv:UnspecifiedMatching -OMIM:602381 NAB2 skos:exactMatch ncbigene:4665 semapv:UnspecifiedMatching -OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:9067 semapv:UnspecifiedMatching -OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:PLD1 semapv:UnspecifiedMatching -OMIM:602382 PLD1 skos:exactMatch ncbigene:5337 semapv:UnspecifiedMatching -OMIM:602383 OGN skos:exactMatch hgnc.symbol:8126 semapv:UnspecifiedMatching -OMIM:602383 OGN skos:exactMatch hgnc.symbol:OGN semapv:UnspecifiedMatching -OMIM:602383 OGN skos:exactMatch ncbigene:4969 semapv:UnspecifiedMatching -OMIM:602384 PLD2 skos:exactMatch hgnc.symbol:9068 semapv:UnspecifiedMatching -OMIM:602384 PLD2 skos:exactMatch hgnc.symbol:PLD2 semapv:UnspecifiedMatching -OMIM:602384 PLD2 skos:exactMatch ncbigene:5338 semapv:UnspecifiedMatching -OMIM:602385 SULT1C2 skos:exactMatch hgnc.symbol:11456 semapv:UnspecifiedMatching -OMIM:602385 SULT1C2 skos:exactMatch hgnc.symbol:SULT1C2 semapv:UnspecifiedMatching -OMIM:602385 SULT1C2 skos:exactMatch ncbigene:6819 semapv:UnspecifiedMatching -OMIM:602386 ZNF212 skos:exactMatch hgnc.symbol:13004 semapv:UnspecifiedMatching -OMIM:602386 ZNF212 skos:exactMatch hgnc.symbol:ZNF212 semapv:UnspecifiedMatching -OMIM:602386 ZNF212 skos:exactMatch ncbigene:7988 semapv:UnspecifiedMatching -OMIM:602387 RBMS2 skos:exactMatch hgnc.symbol:9909 semapv:UnspecifiedMatching -OMIM:602387 RBMS2 skos:exactMatch hgnc.symbol:RBMS2 semapv:UnspecifiedMatching -OMIM:602387 RBMS2 skos:exactMatch ncbigene:5939 semapv:UnspecifiedMatching -OMIM:602388 SYMPK skos:exactMatch hgnc.symbol:22935 semapv:UnspecifiedMatching -OMIM:602388 SYMPK skos:exactMatch hgnc.symbol:SYMPK semapv:UnspecifiedMatching -OMIM:602388 SYMPK skos:exactMatch ncbigene:8189 semapv:UnspecifiedMatching -OMIM:602389 TUFM skos:exactMatch hgnc.symbol:12420 semapv:UnspecifiedMatching -OMIM:602389 TUFM skos:exactMatch hgnc.symbol:TUFM semapv:UnspecifiedMatching -OMIM:602389 TUFM skos:exactMatch ncbigene:7284 semapv:UnspecifiedMatching -OMIM:602391 PEMT skos:exactMatch hgnc.symbol:8830 semapv:UnspecifiedMatching -OMIM:602391 PEMT skos:exactMatch hgnc.symbol:PEMT semapv:UnspecifiedMatching -OMIM:602391 PEMT skos:exactMatch ncbigene:10400 semapv:UnspecifiedMatching -OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:4848 semapv:UnspecifiedMatching -OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:HCRTR1 semapv:UnspecifiedMatching -OMIM:602392 HCRTR1 skos:exactMatch ncbigene:3061 semapv:UnspecifiedMatching -OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:4849 semapv:UnspecifiedMatching -OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:HCRTR2 semapv:UnspecifiedMatching -OMIM:602393 HCRTR2 skos:exactMatch ncbigene:3062 semapv:UnspecifiedMatching -OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:15608 semapv:UnspecifiedMatching -OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:NOLC1 semapv:UnspecifiedMatching -OMIM:602394 NOLC1 skos:exactMatch ncbigene:9221 semapv:UnspecifiedMatching -OMIM:602395 GPAM skos:exactMatch hgnc.symbol:24865 semapv:UnspecifiedMatching -OMIM:602395 GPAM skos:exactMatch hgnc.symbol:GPAM semapv:UnspecifiedMatching -OMIM:602395 GPAM skos:exactMatch ncbigene:57678 semapv:UnspecifiedMatching -OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:546 semapv:UnspecifiedMatching -OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:ANXA8 semapv:UnspecifiedMatching -OMIM:602396 ANXA8 skos:exactMatch ncbigene:653145 semapv:UnspecifiedMatching -OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:3706 semapv:UnspecifiedMatching -OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:ATP8B1 semapv:UnspecifiedMatching -OMIM:602397 ATP8B1 skos:exactMatch ncbigene:5205 semapv:UnspecifiedMatching -OMIM:602399 MAPK12 skos:exactMatch UMLS:C1366897 semapv:UnspecifiedMatching -OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:6874 semapv:UnspecifiedMatching -OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:MAPK12 semapv:UnspecifiedMatching -OMIM:602399 MAPK12 skos:exactMatch ncbigene:6300 semapv:UnspecifiedMatching -OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:3801 semapv:UnspecifiedMatching -OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:FOXC2 semapv:UnspecifiedMatching -OMIM:602402 FOXC2 skos:exactMatch ncbigene:2303 semapv:UnspecifiedMatching -OMIM:602403 BLMH skos:exactMatch hgnc.symbol:1059 semapv:UnspecifiedMatching -OMIM:602403 BLMH skos:exactMatch hgnc.symbol:BLMH semapv:UnspecifiedMatching -OMIM:602403 BLMH skos:exactMatch ncbigene:642 semapv:UnspecifiedMatching -OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:4807 semapv:UnspecifiedMatching -OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:HAND1 semapv:UnspecifiedMatching -OMIM:602406 HAND1 skos:exactMatch ncbigene:9421 semapv:UnspecifiedMatching -OMIM:602407 HAND2 skos:exactMatch UMLS:C1415467 semapv:UnspecifiedMatching -OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:4808 semapv:UnspecifiedMatching -OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:HAND2 semapv:UnspecifiedMatching -OMIM:602407 HAND2 skos:exactMatch ncbigene:9464 semapv:UnspecifiedMatching -OMIM:602408 NR1D1 skos:exactMatch UMLS:C1417821 semapv:UnspecifiedMatching -OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:7962 semapv:UnspecifiedMatching -OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:NR1D1 semapv:UnspecifiedMatching -OMIM:602408 NR1D1 skos:exactMatch ncbigene:9572 semapv:UnspecifiedMatching -OMIM:602409 MLLT10 skos:exactMatch UMLS:C1423947 semapv:UnspecifiedMatching -OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:16063 semapv:UnspecifiedMatching -OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:MLLT10 semapv:UnspecifiedMatching -OMIM:602409 MLLT10 skos:exactMatch ncbigene:8028 semapv:UnspecifiedMatching -OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:14255 semapv:UnspecifiedMatching -OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:BRPF1 semapv:UnspecifiedMatching -OMIM:602410 BRPF1 skos:exactMatch ncbigene:7862 semapv:UnspecifiedMatching -OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:3516 semapv:UnspecifiedMatching -OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:EXTL2 semapv:UnspecifiedMatching -OMIM:602411 EXTL2 skos:exactMatch ncbigene:2135 semapv:UnspecifiedMatching -OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:10411 semapv:UnspecifiedMatching -OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:RPS24 semapv:UnspecifiedMatching -OMIM:602412 RPS24 skos:exactMatch ncbigene:6229 semapv:UnspecifiedMatching -OMIM:602413 SDHC skos:exactMatch hgnc.symbol:10682 semapv:UnspecifiedMatching -OMIM:602413 SDHC skos:exactMatch hgnc.symbol:SDHC semapv:UnspecifiedMatching -OMIM:602413 SDHC skos:exactMatch ncbigene:6391 semapv:UnspecifiedMatching -OMIM:602414 APBA1 skos:exactMatch UMLS:C1412456 semapv:UnspecifiedMatching -OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:578 semapv:UnspecifiedMatching -OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:APBA1 semapv:UnspecifiedMatching -OMIM:602414 APBA1 skos:exactMatch ncbigene:320 semapv:UnspecifiedMatching -OMIM:602415 DTNB skos:exactMatch hgnc.symbol:3058 semapv:UnspecifiedMatching -OMIM:602415 DTNB skos:exactMatch hgnc.symbol:DTNB semapv:UnspecifiedMatching -OMIM:602415 DTNB skos:exactMatch ncbigene:1838 semapv:UnspecifiedMatching -OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:571 semapv:UnspecifiedMatching -OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:AP3S2 semapv:UnspecifiedMatching -OMIM:602416 AP3S2 skos:exactMatch ncbigene:10239 semapv:UnspecifiedMatching -OMIM:602418 weyers ulnar ray/oligodactyly syndrome skos:exactMatch UMLS:C1865566 semapv:UnspecifiedMatching -OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:3240 semapv:UnspecifiedMatching -OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:EGR3 semapv:UnspecifiedMatching -OMIM:602419 EGR3 skos:exactMatch ncbigene:1960 semapv:UnspecifiedMatching -OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:6219 semapv:UnspecifiedMatching -OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:KCNA10 semapv:UnspecifiedMatching -OMIM:602420 KCNA10 skos:exactMatch ncbigene:3744 semapv:UnspecifiedMatching -OMIM:602421 CFTR skos:exactMatch hgnc.symbol:1884 semapv:UnspecifiedMatching -OMIM:602421 CFTR skos:exactMatch hgnc.symbol:CFTR semapv:UnspecifiedMatching -OMIM:602421 CFTR skos:exactMatch ncbigene:1080 semapv:UnspecifiedMatching -OMIM:602422 SLBP skos:exactMatch hgnc.symbol:10904 semapv:UnspecifiedMatching -OMIM:602422 SLBP skos:exactMatch hgnc.symbol:SLBP semapv:UnspecifiedMatching -OMIM:602422 SLBP skos:exactMatch ncbigene:7884 semapv:UnspecifiedMatching -OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:7966 semapv:UnspecifiedMatching -OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:NR1H3 semapv:UnspecifiedMatching -OMIM:602423 NR1H3 skos:exactMatch ncbigene:10062 semapv:UnspecifiedMatching -OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:2934 semapv:UnspecifiedMatching -OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:DMRT1 semapv:UnspecifiedMatching -OMIM:602424 DMRT1 skos:exactMatch ncbigene:1761 semapv:UnspecifiedMatching -OMIM:602425 MAP3K4 skos:exactMatch hgnc.symbol:6856 semapv:UnspecifiedMatching -OMIM:602425 MAP3K4 skos:exactMatch hgnc.symbol:MAP3K4 semapv:UnspecifiedMatching -OMIM:602425 MAP3K4 skos:exactMatch ncbigene:4216 semapv:UnspecifiedMatching -OMIM:602426 NVL skos:exactMatch hgnc.symbol:8070 semapv:UnspecifiedMatching -OMIM:602426 NVL skos:exactMatch hgnc.symbol:NVL semapv:UnspecifiedMatching -OMIM:602426 NVL skos:exactMatch ncbigene:4931 semapv:UnspecifiedMatching -OMIM:602427 TBX6 skos:exactMatch UMLS:C1420616 semapv:UnspecifiedMatching -OMIM:602427 TBX6 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching -OMIM:602427 TBX6 skos:exactMatch hgnc.symbol:11605 semapv:UnspecifiedMatching -OMIM:602427 TBX6 skos:exactMatch hgnc.symbol:TBX6 semapv:UnspecifiedMatching -OMIM:602427 TBX6 skos:exactMatch ncbigene:6911 semapv:UnspecifiedMatching -OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:4820 semapv:UnspecifiedMatching -OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:HAS3 semapv:UnspecifiedMatching -OMIM:602428 HAS3 skos:exactMatch ncbigene:3038 semapv:UnspecifiedMatching -OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:10249 semapv:UnspecifiedMatching -OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:ROBO1 semapv:UnspecifiedMatching -OMIM:602430 ROBO1 skos:exactMatch ncbigene:6091 semapv:UnspecifiedMatching -OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:10250 semapv:UnspecifiedMatching -OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:ROBO2 semapv:UnspecifiedMatching -OMIM:602431 ROBO2 skos:exactMatch ncbigene:6092 semapv:UnspecifiedMatching -OMIM:602432 OPTN skos:exactMatch hgnc.symbol:17142 semapv:UnspecifiedMatching -OMIM:602432 OPTN skos:exactMatch hgnc.symbol:OPTN semapv:UnspecifiedMatching -OMIM:602432 OPTN skos:exactMatch ncbigene:10133 semapv:UnspecifiedMatching -OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:891 semapv:UnspecifiedMatching -OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:AUP1 semapv:UnspecifiedMatching -OMIM:602434 AUP1 skos:exactMatch ncbigene:550 semapv:UnspecifiedMatching -OMIM:602435 PPIE skos:exactMatch hgnc.symbol:9258 semapv:UnspecifiedMatching -OMIM:602435 PPIE skos:exactMatch hgnc.symbol:PPIE semapv:UnspecifiedMatching -OMIM:602435 PPIE skos:exactMatch ncbigene:10450 semapv:UnspecifiedMatching -OMIM:602436 MICB skos:exactMatch hgnc.symbol:7091 semapv:UnspecifiedMatching -OMIM:602436 MICB skos:exactMatch hgnc.symbol:MICB semapv:UnspecifiedMatching -OMIM:602436 MICB skos:exactMatch ncbigene:4277 semapv:UnspecifiedMatching -OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:4194 semapv:UnspecifiedMatching -OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:GCHFR semapv:UnspecifiedMatching -OMIM:602437 GCHFR skos:exactMatch ncbigene:2644 semapv:UnspecifiedMatching -OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:5227 semapv:UnspecifiedMatching -OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:HSF4 semapv:UnspecifiedMatching -OMIM:602438 HSF4 skos:exactMatch ncbigene:3299 semapv:UnspecifiedMatching -OMIM:602441 CISH skos:exactMatch hgnc.symbol:1984 semapv:UnspecifiedMatching -OMIM:602441 CISH skos:exactMatch hgnc.symbol:CISH semapv:UnspecifiedMatching -OMIM:602441 CISH skos:exactMatch ncbigene:1154 semapv:UnspecifiedMatching -OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:6183 semapv:UnspecifiedMatching -OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:ITSN1 semapv:UnspecifiedMatching -OMIM:602442 ITSN1 skos:exactMatch ncbigene:6453 semapv:UnspecifiedMatching -OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:12822 semapv:UnspecifiedMatching -OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:XPNPEP1 semapv:UnspecifiedMatching -OMIM:602443 XPNPEP1 skos:exactMatch ncbigene:7511 semapv:UnspecifiedMatching -OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:11628 semapv:UnspecifiedMatching -OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:ZNF354A semapv:UnspecifiedMatching -OMIM:602444 ZNF354A skos:exactMatch ncbigene:6940 semapv:UnspecifiedMatching -OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:8943 semapv:UnspecifiedMatching -OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:SERPINI1 semapv:UnspecifiedMatching -OMIM:602445 SERPINI1 skos:exactMatch ncbigene:5274 semapv:UnspecifiedMatching -OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:4453 semapv:UnspecifiedMatching -OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:GPC5 semapv:UnspecifiedMatching -OMIM:602446 GPC5 skos:exactMatch ncbigene:2262 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch UMLS:C1418755 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch UMLS:C4016795 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch hgnc.symbol:9205 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch hgnc.symbol:PON2 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch ncbigene:5445 semapv:UnspecifiedMatching -OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:6857 semapv:UnspecifiedMatching -OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:MAP3K5 semapv:UnspecifiedMatching -OMIM:602448 MAP3K5 skos:exactMatch ncbigene:4217 semapv:UnspecifiedMatching -OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:367 semapv:UnspecifiedMatching -OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:AKAP1 semapv:UnspecifiedMatching -OMIM:602449 AKAP1 skos:exactMatch ncbigene:8165 semapv:UnspecifiedMatching -OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:8543 semapv:UnspecifiedMatching -OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:P2RY6 semapv:UnspecifiedMatching -OMIM:602451 P2RY6 skos:exactMatch ncbigene:5031 semapv:UnspecifiedMatching -OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:1148 semapv:UnspecifiedMatching -OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:BUB1 semapv:UnspecifiedMatching -OMIM:602452 BUB1 skos:exactMatch ncbigene:699 semapv:UnspecifiedMatching -OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:6146 semapv:UnspecifiedMatching -OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:ITGAD semapv:UnspecifiedMatching -OMIM:602453 ITGAD skos:exactMatch ncbigene:3681 semapv:UnspecifiedMatching -OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:9683 semapv:UnspecifiedMatching -OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:PTPRU semapv:UnspecifiedMatching -OMIM:602454 PTPRU skos:exactMatch ncbigene:10076 semapv:UnspecifiedMatching -OMIM:602457 FADD skos:exactMatch hgnc.symbol:3573 semapv:UnspecifiedMatching -OMIM:602457 FADD skos:exactMatch hgnc.symbol:FADD semapv:UnspecifiedMatching -OMIM:602457 FADD skos:exactMatch ncbigene:8772 semapv:UnspecifiedMatching -OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:11186 semapv:UnspecifiedMatching -OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:SORT1 semapv:UnspecifiedMatching -OMIM:602458 SORT1 skos:exactMatch ncbigene:6272 semapv:UnspecifiedMatching -OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:9220 semapv:UnspecifiedMatching -OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:POU4F3 semapv:UnspecifiedMatching -OMIM:602460 POU4F3 skos:exactMatch ncbigene:5459 semapv:UnspecifiedMatching -OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:9662 semapv:UnspecifiedMatching -OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:SIRPA semapv:UnspecifiedMatching -OMIM:602461 PTPNS1 skos:exactMatch ncbigene:140885 semapv:UnspecifiedMatching -OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:2365 semapv:UnspecifiedMatching -OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:CRMP1 semapv:UnspecifiedMatching -OMIM:602462 CRMP1 skos:exactMatch ncbigene:1400 semapv:UnspecifiedMatching -OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:3014 semapv:UnspecifiedMatching -OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:DPYSL2 semapv:UnspecifiedMatching -OMIM:602463 DPYSL2 skos:exactMatch ncbigene:1808 semapv:UnspecifiedMatching -OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:12034 semapv:UnspecifiedMatching -OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:TRAF4 semapv:UnspecifiedMatching -OMIM:602464 TRAF4 skos:exactMatch ncbigene:9618 semapv:UnspecifiedMatching -OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:11269 semapv:UnspecifiedMatching -OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:SPRY1 semapv:UnspecifiedMatching -OMIM:602465 SPRY1 skos:exactMatch ncbigene:10252 semapv:UnspecifiedMatching -OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:11270 semapv:UnspecifiedMatching -OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:SPRY2 semapv:UnspecifiedMatching -OMIM:602466 SPRY2 skos:exactMatch ncbigene:10253 semapv:UnspecifiedMatching -OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:14946 semapv:UnspecifiedMatching -OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:PPP1R9A semapv:UnspecifiedMatching -OMIM:602468 PPP1R9A skos:exactMatch ncbigene:55607 semapv:UnspecifiedMatching -OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:3795 semapv:UnspecifiedMatching -OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:FOLR3 semapv:UnspecifiedMatching -OMIM:602469 FOLR3 skos:exactMatch ncbigene:2352 semapv:UnspecifiedMatching -OMIM:602470 PSCA skos:exactMatch hgnc.symbol:9500 semapv:UnspecifiedMatching -OMIM:602470 PSCA skos:exactMatch hgnc.symbol:PSCA semapv:UnspecifiedMatching -OMIM:602470 PSCA skos:exactMatch ncbigene:8000 semapv:UnspecifiedMatching -OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:29650 semapv:UnspecifiedMatching -OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:PKMYT1 semapv:UnspecifiedMatching -OMIM:602474 PKMYT1 skos:exactMatch ncbigene:9088 semapv:UnspecifiedMatching -OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:2977 semapv:UnspecifiedMatching -OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:TRDMT1 semapv:UnspecifiedMatching -OMIM:602478 TRDMT1 skos:exactMatch ncbigene:1787 semapv:UnspecifiedMatching -OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:9214 semapv:UnspecifiedMatching -OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:POU3F1 semapv:UnspecifiedMatching -OMIM:602479 POU3F1 skos:exactMatch ncbigene:5453 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch UMLS:C1418763 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch UMLS:C5231424 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:9216 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:POU3F3 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch ncbigene:5455 semapv:UnspecifiedMatching -OMIM:602486 POP1 skos:exactMatch hgnc.symbol:30129 semapv:UnspecifiedMatching -OMIM:602486 POP1 skos:exactMatch hgnc.symbol:POP1 semapv:UnspecifiedMatching -OMIM:602486 POP1 skos:exactMatch ncbigene:10940 semapv:UnspecifiedMatching -OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:16897 semapv:UnspecifiedMatching -OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:RIDA semapv:UnspecifiedMatching -OMIM:602487 HRSP12 skos:exactMatch ncbigene:10247 semapv:UnspecifiedMatching -OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:9502 semapv:UnspecifiedMatching -OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:CYTH2 semapv:UnspecifiedMatching -OMIM:602488 CYTH2 skos:exactMatch ncbigene:9266 semapv:UnspecifiedMatching -OMIM:602489 KHDRBS1 skos:exactMatch UMLS:C1425322 semapv:UnspecifiedMatching -OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:18116 semapv:UnspecifiedMatching -OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:KHDRBS1 semapv:UnspecifiedMatching -OMIM:602489 KHDRBS1 skos:exactMatch ncbigene:10657 semapv:UnspecifiedMatching -OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:8001 semapv:UnspecifiedMatching -OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:NRIP1 semapv:UnspecifiedMatching -OMIM:602490 NRIP1 skos:exactMatch ncbigene:8204 semapv:UnspecifiedMatching -OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:9692 semapv:UnspecifiedMatching -OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:PTX3 semapv:UnspecifiedMatching -OMIM:602492 PTX3 skos:exactMatch ncbigene:5806 semapv:UnspecifiedMatching -OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:12640 semapv:UnspecifiedMatching -OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:UVRAG semapv:UnspecifiedMatching -OMIM:602493 UVRAG skos:exactMatch ncbigene:7405 semapv:UnspecifiedMatching -OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:10622 semapv:UnspecifiedMatching -OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:CCL23 semapv:UnspecifiedMatching -OMIM:602494 CCL23 skos:exactMatch ncbigene:6368 semapv:UnspecifiedMatching -OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:10623 semapv:UnspecifiedMatching -OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:CCL24 semapv:UnspecifiedMatching -OMIM:602495 CCL24 skos:exactMatch ncbigene:6369 semapv:UnspecifiedMatching -OMIM:602496 MPST skos:exactMatch hgnc.symbol:7223 semapv:UnspecifiedMatching -OMIM:602496 MPST skos:exactMatch hgnc.symbol:MPST semapv:UnspecifiedMatching -OMIM:602496 MPST skos:exactMatch ncbigene:4357 semapv:UnspecifiedMatching -OMIM:602498 TFG skos:exactMatch hgnc.symbol:11758 semapv:UnspecifiedMatching -OMIM:602498 TFG skos:exactMatch hgnc.symbol:TFG semapv:UnspecifiedMatching -OMIM:602498 TFG skos:exactMatch ncbigene:10342 semapv:UnspecifiedMatching -OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:4429 semapv:UnspecifiedMatching -OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:GOLGB1 semapv:UnspecifiedMatching -OMIM:602500 GOLGB1 skos:exactMatch ncbigene:2804 semapv:UnspecifiedMatching -OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 semapv:UnspecifiedMatching -OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch UMLS:C1865285 semapv:UnspecifiedMatching -OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:4424 semapv:UnspecifiedMatching -OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:GOLGA1 semapv:UnspecifiedMatching -OMIM:602502 GOLGA1 skos:exactMatch ncbigene:2800 semapv:UnspecifiedMatching -OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:3944 semapv:UnspecifiedMatching -OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:FRAT1 semapv:UnspecifiedMatching -OMIM:602503 FRAT1 skos:exactMatch ncbigene:10023 semapv:UnspecifiedMatching -OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:10854 semapv:UnspecifiedMatching -OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:SHOX2 semapv:UnspecifiedMatching -OMIM:602504 SHOX2 skos:exactMatch ncbigene:6474 semapv:UnspecifiedMatching -OMIM:602505 PXN skos:exactMatch hgnc.symbol:9718 semapv:UnspecifiedMatching -OMIM:602505 PXN skos:exactMatch hgnc.symbol:PXN semapv:UnspecifiedMatching -OMIM:602505 PXN skos:exactMatch ncbigene:5829 semapv:UnspecifiedMatching -OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:12859 semapv:UnspecifiedMatching -OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:RNF103 semapv:UnspecifiedMatching -OMIM:602507 RNF103 skos:exactMatch ncbigene:7844 semapv:UnspecifiedMatching -OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:8575 semapv:UnspecifiedMatching -OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:PAFAH1B2 semapv:UnspecifiedMatching -OMIM:602508 PAFAH1B2 skos:exactMatch ncbigene:5049 semapv:UnspecifiedMatching -OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:4427 semapv:UnspecifiedMatching -OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:GOLGA4 semapv:UnspecifiedMatching -OMIM:602509 GOLGA4 skos:exactMatch ncbigene:2803 semapv:UnspecifiedMatching -OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:9672 semapv:UnspecifiedMatching -OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:PTPRH semapv:UnspecifiedMatching -OMIM:602510 PTPRH skos:exactMatch ncbigene:5794 semapv:UnspecifiedMatching -OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:9994 semapv:UnspecifiedMatching -OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:RGS12 semapv:UnspecifiedMatching -OMIM:602512 RGS12 skos:exactMatch ncbigene:6002 semapv:UnspecifiedMatching -OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:9996 semapv:UnspecifiedMatching -OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:RGS14 semapv:UnspecifiedMatching -OMIM:602513 RGS14 skos:exactMatch ncbigene:10636 semapv:UnspecifiedMatching -OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:9997 semapv:UnspecifiedMatching -OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:RGS16 semapv:UnspecifiedMatching -OMIM:602514 RGS16 skos:exactMatch ncbigene:6004 semapv:UnspecifiedMatching -OMIM:602515 GPLD1 skos:exactMatch UMLS:C1415202 semapv:UnspecifiedMatching -OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:4459 semapv:UnspecifiedMatching -OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:GPLD1 semapv:UnspecifiedMatching -OMIM:602515 GPLD1 skos:exactMatch ncbigene:2822 semapv:UnspecifiedMatching -OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:10000 semapv:UnspecifiedMatching -OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:RGS4 semapv:UnspecifiedMatching -OMIM:602516 RGS4 skos:exactMatch ncbigene:5999 semapv:UnspecifiedMatching -OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:10003 semapv:UnspecifiedMatching -OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:RGS7 semapv:UnspecifiedMatching -OMIM:602517 RGS7 skos:exactMatch ncbigene:6000 semapv:UnspecifiedMatching -OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:6565 semapv:UnspecifiedMatching -OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:LGALS4 semapv:UnspecifiedMatching -OMIM:602518 LGALS4 skos:exactMatch ncbigene:3960 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch UMLS:C1421408 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch hgnc.symbol:12630 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch hgnc.symbol:USP7 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch ncbigene:7874 semapv:UnspecifiedMatching -OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:6845 semapv:UnspecifiedMatching -OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:MAP2K5 semapv:UnspecifiedMatching -OMIM:602520 MAP2K5 skos:exactMatch ncbigene:5607 semapv:UnspecifiedMatching -OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:6880 semapv:UnspecifiedMatching -OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:MAPK7 semapv:UnspecifiedMatching -OMIM:602521 MAPK7 skos:exactMatch ncbigene:5598 semapv:UnspecifiedMatching -OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:3039 semapv:UnspecifiedMatching -OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:DSCAM semapv:UnspecifiedMatching -OMIM:602523 DSCAM skos:exactMatch ncbigene:1826 semapv:UnspecifiedMatching -OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:8809 semapv:UnspecifiedMatching -OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:PDK1 semapv:UnspecifiedMatching -OMIM:602524 PDK1 skos:exactMatch ncbigene:5163 semapv:UnspecifiedMatching -OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:8810 semapv:UnspecifiedMatching -OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:PDK2 semapv:UnspecifiedMatching -OMIM:602525 PDK2 skos:exactMatch ncbigene:5164 semapv:UnspecifiedMatching -OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:8812 semapv:UnspecifiedMatching -OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:PDK4 semapv:UnspecifiedMatching -OMIM:602527 PDK4 skos:exactMatch ncbigene:5166 semapv:UnspecifiedMatching -OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:12408 semapv:UnspecifiedMatching -OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:TUBA3C semapv:UnspecifiedMatching -OMIM:602528 TUBA3C skos:exactMatch ncbigene:7278 semapv:UnspecifiedMatching -OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:20766 semapv:UnspecifiedMatching -OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:TUBA1A semapv:UnspecifiedMatching -OMIM:602529 TUBA1A skos:exactMatch ncbigene:7846 semapv:UnspecifiedMatching -OMIM:602530 TUBA1B skos:exactMatch UMLS:C1865268 semapv:UnspecifiedMatching -OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:18809 semapv:UnspecifiedMatching -OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:TUBA1B semapv:UnspecifiedMatching -OMIM:602530 TUBA1B skos:exactMatch ncbigene:10376 semapv:UnspecifiedMatching -OMIM:602531 grange syndrome skos:exactMatch Orphanet:79094 semapv:UnspecifiedMatching -OMIM:602531 grange syndrome skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching -OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:50866 semapv:UnspecifiedMatching -OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:RNF217-AS1 semapv:UnspecifiedMatching -OMIM:602532 RNF217AS1 skos:exactMatch ncbigene:7955 semapv:UnspecifiedMatching -OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:16369 semapv:UnspecifiedMatching -OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:PARK7 semapv:UnspecifiedMatching -OMIM:602533 DJ1 skos:exactMatch ncbigene:11315 semapv:UnspecifiedMatching -OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:11131 semapv:UnspecifiedMatching -OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:SNAP23 semapv:UnspecifiedMatching -OMIM:602534 SNAP23 skos:exactMatch ncbigene:8773 semapv:UnspecifiedMatching -OMIM:602535 marshall-smith syndrome skos:exactMatch Orphanet:561 semapv:UnspecifiedMatching -OMIM:602535 marshall-smith syndrome skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching -OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:17063 semapv:UnspecifiedMatching -OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:RAB3GAP1 semapv:UnspecifiedMatching -OMIM:602536 RAB3GAP1 skos:exactMatch ncbigene:22930 semapv:UnspecifiedMatching -OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:1482 semapv:UnspecifiedMatching -OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:CAPN5 semapv:UnspecifiedMatching -OMIM:602537 CAPN5 skos:exactMatch ncbigene:726 semapv:UnspecifiedMatching -OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:2550 semapv:UnspecifiedMatching -OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:CELF2 semapv:UnspecifiedMatching -OMIM:602538 CELF2 skos:exactMatch ncbigene:10659 semapv:UnspecifiedMatching -OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:6855 semapv:UnspecifiedMatching -OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:MAP3K3 semapv:UnspecifiedMatching -OMIM:602539 MAP3K3 skos:exactMatch ncbigene:4215 semapv:UnspecifiedMatching -OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching -OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching -OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:1125 semapv:UnspecifiedMatching -OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:BTF3 semapv:UnspecifiedMatching -OMIM:602542 BTF3 skos:exactMatch ncbigene:689 semapv:UnspecifiedMatching -OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:1126 semapv:UnspecifiedMatching -OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:BTF3P11 semapv:UnspecifiedMatching -OMIM:602543 BTF3P11 skos:exactMatch ncbigene:690 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C1418270 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch hgnc.symbol:8607 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch hgnc.symbol:PRKN semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch ncbigene:5071 semapv:UnspecifiedMatching -OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:9674 semapv:UnspecifiedMatching -OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:PTPRK semapv:UnspecifiedMatching -OMIM:602545 PTPRK skos:exactMatch ncbigene:5796 semapv:UnspecifiedMatching -OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:10870 semapv:UnspecifiedMatching -OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:ST8SIA2 semapv:UnspecifiedMatching -OMIM:602546 ST8SIA2 skos:exactMatch ncbigene:8128 semapv:UnspecifiedMatching -OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:10871 semapv:UnspecifiedMatching -OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:ST8SIA4 semapv:UnspecifiedMatching -OMIM:602547 ST8SIA4 skos:exactMatch ncbigene:7903 semapv:UnspecifiedMatching -OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:8155 semapv:UnspecifiedMatching -OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:OPRL1 semapv:UnspecifiedMatching -OMIM:602548 OPRL1 skos:exactMatch ncbigene:4987 semapv:UnspecifiedMatching -OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:9406 semapv:UnspecifiedMatching -OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:PKN2 semapv:UnspecifiedMatching -OMIM:602549 PKN2 skos:exactMatch ncbigene:5586 semapv:UnspecifiedMatching -OMIM:602550 BMAL1 skos:exactMatch UMLS:C1412544 semapv:UnspecifiedMatching -OMIM:602550 BMAL1 skos:exactMatch hgnc.symbol:BMAL1 semapv:UnspecifiedMatching -OMIM:602550 BMAL1 skos:exactMatch ncbigene:406 semapv:UnspecifiedMatching -OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:8067 semapv:UnspecifiedMatching -OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:NUP88 semapv:UnspecifiedMatching -OMIM:602552 NUP88 skos:exactMatch ncbigene:4927 semapv:UnspecifiedMatching -OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch Orphanet:93352 semapv:UnspecifiedMatching -OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching -OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:12825 semapv:UnspecifiedMatching -OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:XPO1 semapv:UnspecifiedMatching -OMIM:602559 XPO1 skos:exactMatch ncbigene:7514 semapv:UnspecifiedMatching -OMIM:602563 NKX6-1 skos:exactMatch UMLS:C1417738 semapv:UnspecifiedMatching -OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:7839 semapv:UnspecifiedMatching -OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:NKX6-1 semapv:UnspecifiedMatching -OMIM:602563 NKX6-1 skos:exactMatch ncbigene:4825 semapv:UnspecifiedMatching -OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:10624 semapv:UnspecifiedMatching -OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:CCL25 semapv:UnspecifiedMatching -OMIM:602565 CCL25 skos:exactMatch ncbigene:6370 semapv:UnspecifiedMatching -OMIM:602566 P2RX7 skos:exactMatch UMLS:C1418215 semapv:UnspecifiedMatching -OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:8537 semapv:UnspecifiedMatching -OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:P2RX7 semapv:UnspecifiedMatching -OMIM:602566 P2RX7 skos:exactMatch ncbigene:5027 semapv:UnspecifiedMatching -OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:6616 semapv:UnspecifiedMatching -OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:LIMS1 semapv:UnspecifiedMatching -OMIM:602567 LIMS1 skos:exactMatch ncbigene:3987 semapv:UnspecifiedMatching -OMIM:602568 MTRR skos:exactMatch hgnc.symbol:7473 semapv:UnspecifiedMatching -OMIM:602568 MTRR skos:exactMatch hgnc.symbol:MTRR semapv:UnspecifiedMatching -OMIM:602568 MTRR skos:exactMatch ncbigene:4552 semapv:UnspecifiedMatching -OMIM:602569 SNCB skos:exactMatch hgnc.symbol:11140 semapv:UnspecifiedMatching -OMIM:602569 SNCB skos:exactMatch hgnc.symbol:SNCB semapv:UnspecifiedMatching -OMIM:602569 SNCB skos:exactMatch ncbigene:6620 semapv:UnspecifiedMatching -OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:6189 semapv:UnspecifiedMatching -OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:JAG2 semapv:UnspecifiedMatching -OMIM:602570 JAG2 skos:exactMatch ncbigene:3714 semapv:UnspecifiedMatching -OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:9901 semapv:UnspecifiedMatching -OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:RBM4 semapv:UnspecifiedMatching -OMIM:602571 RBM4 skos:exactMatch ncbigene:5936 semapv:UnspecifiedMatching -OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:535 semapv:UnspecifiedMatching -OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:ANXA11 semapv:UnspecifiedMatching -OMIM:602572 ANXA11 skos:exactMatch ncbigene:311 semapv:UnspecifiedMatching -OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:536 semapv:UnspecifiedMatching -OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:ANXA13 semapv:UnspecifiedMatching -OMIM:602573 ANXA13 skos:exactMatch ncbigene:312 semapv:UnspecifiedMatching -OMIM:602574 TECTA skos:exactMatch hgnc.symbol:11720 semapv:UnspecifiedMatching -OMIM:602574 TECTA skos:exactMatch hgnc.symbol:TECTA semapv:UnspecifiedMatching -OMIM:602574 TECTA skos:exactMatch ncbigene:7007 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch UMLS:C1416890 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:6654 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:LMX1B semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch ncbigene:4010 semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch UMLS:C1416828 semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch UMLS:C1853296 semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch hgnc.symbol:6560 semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch hgnc.symbol:LFNG semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch ncbigene:3955 semapv:UnspecifiedMatching -OMIM:602577 MFNG skos:exactMatch hgnc.symbol:7038 semapv:UnspecifiedMatching -OMIM:602577 MFNG skos:exactMatch hgnc.symbol:MFNG semapv:UnspecifiedMatching -OMIM:602577 MFNG skos:exactMatch ncbigene:4242 semapv:UnspecifiedMatching -OMIM:602578 RFNG skos:exactMatch hgnc.symbol:9974 semapv:UnspecifiedMatching -OMIM:602578 RFNG skos:exactMatch hgnc.symbol:RFNG semapv:UnspecifiedMatching -OMIM:602578 RFNG skos:exactMatch ncbigene:5986 semapv:UnspecifiedMatching -OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:4425 semapv:UnspecifiedMatching -OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:GOLGA2 semapv:UnspecifiedMatching -OMIM:602580 GOLGA2 skos:exactMatch ncbigene:2801 semapv:UnspecifiedMatching -OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:4426 semapv:UnspecifiedMatching -OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:GOLGA3 semapv:UnspecifiedMatching -OMIM:602581 GOLGA3 skos:exactMatch ncbigene:2802 semapv:UnspecifiedMatching -OMIM:602582 DTX1 skos:exactMatch UMLS:C1333256 semapv:UnspecifiedMatching -OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:3060 semapv:UnspecifiedMatching -OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:DTX1 semapv:UnspecifiedMatching -OMIM:602582 DTX1 skos:exactMatch ncbigene:1840 semapv:UnspecifiedMatching -OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:4494 semapv:UnspecifiedMatching -OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:GPR37 semapv:UnspecifiedMatching -OMIM:602583 GPR37 skos:exactMatch ncbigene:2861 semapv:UnspecifiedMatching -OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:9935 semapv:UnspecifiedMatching -OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:RCN2 semapv:UnspecifiedMatching -OMIM:602584 RCN2 skos:exactMatch ncbigene:5955 semapv:UnspecifiedMatching -OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:24157 semapv:UnspecifiedMatching -OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:ACOT7 semapv:UnspecifiedMatching -OMIM:602587 ACOT7 skos:exactMatch ncbigene:11332 semapv:UnspecifiedMatching -OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:4019 semapv:UnspecifiedMatching -OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:FUT8 semapv:UnspecifiedMatching -OMIM:602589 FUT8 skos:exactMatch ncbigene:2530 semapv:UnspecifiedMatching -OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:8590 semapv:UnspecifiedMatching -OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:PAK1 semapv:UnspecifiedMatching -OMIM:602590 PAK1 skos:exactMatch ncbigene:5058 semapv:UnspecifiedMatching -OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:6318 semapv:UnspecifiedMatching -OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:KIF2A semapv:UnspecifiedMatching -OMIM:602591 KIF2A skos:exactMatch ncbigene:3796 semapv:UnspecifiedMatching -OMIM:602592 CD5L skos:exactMatch hgnc.symbol:1690 semapv:UnspecifiedMatching -OMIM:602592 CD5L skos:exactMatch hgnc.symbol:CD5L semapv:UnspecifiedMatching -OMIM:602592 CD5L skos:exactMatch ncbigene:922 semapv:UnspecifiedMatching -OMIM:602593 CDSN skos:exactMatch hgnc.symbol:1802 semapv:UnspecifiedMatching -OMIM:602593 CDSN skos:exactMatch hgnc.symbol:CDSN semapv:UnspecifiedMatching -OMIM:602593 CDSN skos:exactMatch ncbigene:1041 semapv:UnspecifiedMatching -OMIM:602595 GEMIN2 skos:exactMatch UMLS:C1420069 semapv:UnspecifiedMatching -OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:10884 semapv:UnspecifiedMatching -OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:GEMIN2 semapv:UnspecifiedMatching -OMIM:602595 GEMIN2 skos:exactMatch ncbigene:8487 semapv:UnspecifiedMatching -OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:1008 semapv:UnspecifiedMatching -OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:BCL9 semapv:UnspecifiedMatching -OMIM:602597 BCL9 skos:exactMatch ncbigene:607 semapv:UnspecifiedMatching -OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:17890 semapv:UnspecifiedMatching -OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:HPGDS semapv:UnspecifiedMatching -OMIM:602598 HPGDS skos:exactMatch ncbigene:27306 semapv:UnspecifiedMatching -OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:6700 semapv:UnspecifiedMatching -OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:LRP8 semapv:UnspecifiedMatching -OMIM:602600 LRP8 skos:exactMatch ncbigene:7804 semapv:UnspecifiedMatching -OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:8133 semapv:UnspecifiedMatching -OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:OLR1 semapv:UnspecifiedMatching -OMIM:602601 OLR1 skos:exactMatch ncbigene:4973 semapv:UnspecifiedMatching -OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:10707 semapv:UnspecifiedMatching -OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:SECTM1 semapv:UnspecifiedMatching -OMIM:602602 SECTM1 skos:exactMatch ncbigene:6398 semapv:UnspecifiedMatching -OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:6815 semapv:UnspecifiedMatching -OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:MAGOH semapv:UnspecifiedMatching -OMIM:602603 MAGOH skos:exactMatch ncbigene:4116 semapv:UnspecifiedMatching -OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:24323 semapv:UnspecifiedMatching -OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:CARTPT semapv:UnspecifiedMatching -OMIM:602606 CARTPT skos:exactMatch ncbigene:9607 semapv:UnspecifiedMatching -OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:10963 semapv:UnspecifiedMatching -OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:SLC22A1 semapv:UnspecifiedMatching -OMIM:602607 SLC22A1 skos:exactMatch ncbigene:6580 semapv:UnspecifiedMatching -OMIM:602608 SLC22A2 skos:exactMatch UMLS:C1420137 semapv:UnspecifiedMatching -OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:10966 semapv:UnspecifiedMatching -OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:SLC22A2 semapv:UnspecifiedMatching -OMIM:602608 SLC22A2 skos:exactMatch ncbigene:6582 semapv:UnspecifiedMatching -OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:8974 semapv:UnspecifiedMatching -OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:PIK3C3 semapv:UnspecifiedMatching -OMIM:602609 PIK3C3 skos:exactMatch ncbigene:5289 semapv:UnspecifiedMatching -OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:8982 semapv:UnspecifiedMatching -OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:PIK3R4 semapv:UnspecifiedMatching -OMIM:602610 PIK3R4 skos:exactMatch ncbigene:30849 semapv:UnspecifiedMatching -OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:6859 semapv:UnspecifiedMatching -OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:MAP3K7 semapv:UnspecifiedMatching -OMIM:602614 MAP3K7 skos:exactMatch ncbigene:6885 semapv:UnspecifiedMatching -OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:18157 semapv:UnspecifiedMatching -OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:TAB1 semapv:UnspecifiedMatching -OMIM:602615 TAB1 skos:exactMatch ncbigene:10454 semapv:UnspecifiedMatching -OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:7045 semapv:UnspecifiedMatching -OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:MGAT2 semapv:UnspecifiedMatching -OMIM:602616 MGAT2 skos:exactMatch ncbigene:4247 semapv:UnspecifiedMatching -OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:3806 semapv:UnspecifiedMatching -OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:FOXE1 semapv:UnspecifiedMatching -OMIM:602617 FOXE1 skos:exactMatch ncbigene:2304 semapv:UnspecifiedMatching -OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:2494 semapv:UnspecifiedMatching -OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:CTBP1 semapv:UnspecifiedMatching -OMIM:602618 CTBP1 skos:exactMatch ncbigene:1487 semapv:UnspecifiedMatching -OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:2495 semapv:UnspecifiedMatching -OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:CTBP2 semapv:UnspecifiedMatching -OMIM:602619 CTBP2 skos:exactMatch ncbigene:1488 semapv:UnspecifiedMatching -OMIM:602620 LGMN skos:exactMatch hgnc.symbol:9472 semapv:UnspecifiedMatching -OMIM:602620 LGMN skos:exactMatch hgnc.symbol:LGMN semapv:UnspecifiedMatching -OMIM:602620 LGMN skos:exactMatch ncbigene:5641 semapv:UnspecifiedMatching -OMIM:602621 CXADR skos:exactMatch hgnc.symbol:2559 semapv:UnspecifiedMatching -OMIM:602621 CXADR skos:exactMatch hgnc.symbol:CXADR semapv:UnspecifiedMatching -OMIM:602621 CXADR skos:exactMatch ncbigene:1525 semapv:UnspecifiedMatching -OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:2958 semapv:UnspecifiedMatching -OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:DNASE1L2 semapv:UnspecifiedMatching -OMIM:602622 DNASE1L2 skos:exactMatch ncbigene:1775 semapv:UnspecifiedMatching -OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:3721 semapv:UnspecifiedMatching -OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:FKBP5 semapv:UnspecifiedMatching -OMIM:602623 FKBP5 skos:exactMatch ncbigene:2289 semapv:UnspecifiedMatching -OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:946 semapv:UnspecifiedMatching -OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:MAGI1 semapv:UnspecifiedMatching -OMIM:602625 MAGI1 skos:exactMatch ncbigene:9223 semapv:UnspecifiedMatching -OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:5995 semapv:UnspecifiedMatching -OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:IL1RAP semapv:UnspecifiedMatching -OMIM:602626 IL1RAP skos:exactMatch ncbigene:3556 semapv:UnspecifiedMatching -OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:1744 semapv:UnspecifiedMatching -OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:CDC6 semapv:UnspecifiedMatching -OMIM:602627 CDC6 skos:exactMatch ncbigene:990 semapv:UnspecifiedMatching -OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:1928 semapv:UnspecifiedMatching -OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:FOXN3 semapv:UnspecifiedMatching -OMIM:602628 FOXN3 skos:exactMatch ncbigene:1112 semapv:UnspecifiedMatching -OMIM:602630 TGIF skos:exactMatch hgnc.symbol:11776 semapv:UnspecifiedMatching -OMIM:602630 TGIF skos:exactMatch hgnc.symbol:TGIF1 semapv:UnspecifiedMatching -OMIM:602630 TGIF skos:exactMatch ncbigene:7050 semapv:UnspecifiedMatching -OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:10964 semapv:UnspecifiedMatching -OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:SLC22A18 semapv:UnspecifiedMatching -OMIM:602631 SLC22A18 skos:exactMatch ncbigene:5002 semapv:UnspecifiedMatching -OMIM:602632 PODXL skos:exactMatch hgnc.symbol:9171 semapv:UnspecifiedMatching -OMIM:602632 PODXL skos:exactMatch hgnc.symbol:PODXL semapv:UnspecifiedMatching -OMIM:602632 PODXL skos:exactMatch ncbigene:5420 semapv:UnspecifiedMatching -OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:3703 semapv:UnspecifiedMatching -OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:FHL2 semapv:UnspecifiedMatching -OMIM:602633 FHL2 skos:exactMatch ncbigene:2274 semapv:UnspecifiedMatching -OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:6968 semapv:UnspecifiedMatching -OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:DNAJB9 semapv:UnspecifiedMatching -OMIM:602634 DNAJB9 skos:exactMatch ncbigene:4189 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C1422833 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394572 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394573 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:14677 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:DEAF1 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch ncbigene:10522 semapv:UnspecifiedMatching -OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:9296 semapv:UnspecifiedMatching -OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:PPP1R8 semapv:UnspecifiedMatching -OMIM:602636 PPP1R8 skos:exactMatch ncbigene:5511 semapv:UnspecifiedMatching -OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:11256 semapv:UnspecifiedMatching -OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:SPP2 semapv:UnspecifiedMatching -OMIM:602637 SPP2 skos:exactMatch ncbigene:6694 semapv:UnspecifiedMatching -OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:6947 semapv:UnspecifiedMatching -OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:MCM4 semapv:UnspecifiedMatching -OMIM:602638 MCM4 skos:exactMatch ncbigene:4173 semapv:UnspecifiedMatching -OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:23536 semapv:UnspecifiedMatching -OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:NAALADL1 semapv:UnspecifiedMatching -OMIM:602640 NAALADL1 skos:exactMatch ncbigene:10004 semapv:UnspecifiedMatching -OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:3282 semapv:UnspecifiedMatching -OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:EIF4A1 semapv:UnspecifiedMatching -OMIM:602641 EIF4A1 skos:exactMatch ncbigene:1973 semapv:UnspecifiedMatching -OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:11926 semapv:UnspecifiedMatching -OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:TNFSF11 semapv:UnspecifiedMatching -OMIM:602642 TNFSF11 skos:exactMatch ncbigene:8600 semapv:UnspecifiedMatching -OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:11909 semapv:UnspecifiedMatching -OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:TNFRSF11B semapv:UnspecifiedMatching -OMIM:602643 TNFRSF11B skos:exactMatch ncbigene:4982 semapv:UnspecifiedMatching -OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:11859 semapv:UnspecifiedMatching -OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:TSPAN4 semapv:UnspecifiedMatching -OMIM:602644 TSPAN4 skos:exactMatch ncbigene:7106 semapv:UnspecifiedMatching -OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:10725 semapv:UnspecifiedMatching -OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:SEMA3C semapv:UnspecifiedMatching -OMIM:602645 SEMA3C skos:exactMatch ncbigene:10512 semapv:UnspecifiedMatching -OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:4492 semapv:UnspecifiedMatching -OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:GPR35 semapv:UnspecifiedMatching -OMIM:602646 GPR35 skos:exactMatch ncbigene:2859 semapv:UnspecifiedMatching -OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:8071 semapv:UnspecifiedMatching -OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:NXF1 semapv:UnspecifiedMatching -OMIM:602647 NXF1 skos:exactMatch ncbigene:10482 semapv:UnspecifiedMatching -OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:1565 semapv:UnspecifiedMatching -OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:ACKR2 semapv:UnspecifiedMatching -OMIM:602648 ACKR2 skos:exactMatch ncbigene:1238 semapv:UnspecifiedMatching -OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:1982 semapv:UnspecifiedMatching -OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:CIRBP semapv:UnspecifiedMatching -OMIM:602649 CIRBP skos:exactMatch ncbigene:1153 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch UMLS:C1420368 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch hgnc.symbol:11254 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch hgnc.symbol:SPOP semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch ncbigene:8405 semapv:UnspecifiedMatching -OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:7995 semapv:UnspecifiedMatching -OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:NRDC semapv:UnspecifiedMatching -OMIM:602651 NRD1 skos:exactMatch ncbigene:4898 semapv:UnspecifiedMatching -OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:6367 semapv:UnspecifiedMatching -OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:KLK6 semapv:UnspecifiedMatching -OMIM:602652 KLK6 skos:exactMatch ncbigene:5653 semapv:UnspecifiedMatching -OMIM:602653 TECTB skos:exactMatch hgnc.symbol:11721 semapv:UnspecifiedMatching -OMIM:602653 TECTB skos:exactMatch hgnc.symbol:TECTB semapv:UnspecifiedMatching -OMIM:602653 TECTB skos:exactMatch ncbigene:6975 semapv:UnspecifiedMatching -OMIM:602654 FARP1 skos:exactMatch UMLS:C1414533 semapv:UnspecifiedMatching -OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:3591 semapv:UnspecifiedMatching -OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:FARP1 semapv:UnspecifiedMatching -OMIM:602654 FARP1 skos:exactMatch ncbigene:10160 semapv:UnspecifiedMatching -OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:13813 semapv:UnspecifiedMatching -OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:SLC4A1AP semapv:UnspecifiedMatching -OMIM:602655 SLC4A1AP skos:exactMatch ncbigene:22950 semapv:UnspecifiedMatching -OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:8028 semapv:UnspecifiedMatching -OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:NTHL1 semapv:UnspecifiedMatching -OMIM:602656 NTHL1 skos:exactMatch ncbigene:4913 semapv:UnspecifiedMatching -OMIM:602658 PDE2A skos:exactMatch UMLS:C1418417 semapv:UnspecifiedMatching -OMIM:602658 PDE2A skos:exactMatch UMLS:C5436894 semapv:UnspecifiedMatching -OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:8777 semapv:UnspecifiedMatching -OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:PDE2A semapv:UnspecifiedMatching -OMIM:602658 PDE2A skos:exactMatch ncbigene:5138 semapv:UnspecifiedMatching -OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:7181 semapv:UnspecifiedMatching -OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:MNAT1 semapv:UnspecifiedMatching -OMIM:602659 MNAT1 skos:exactMatch ncbigene:4331 semapv:UnspecifiedMatching -OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:20771 semapv:UnspecifiedMatching -OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:TUBB4B semapv:UnspecifiedMatching -OMIM:602660 TUBB4B skos:exactMatch ncbigene:10383 semapv:UnspecifiedMatching -OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:20772 semapv:UnspecifiedMatching -OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:TUBB3 semapv:UnspecifiedMatching -OMIM:602661 TUBB3 skos:exactMatch ncbigene:10381 semapv:UnspecifiedMatching -OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:20774 semapv:UnspecifiedMatching -OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:TUBB4A semapv:UnspecifiedMatching -OMIM:602662 TUBB4A skos:exactMatch ncbigene:10382 semapv:UnspecifiedMatching -OMIM:602663 PRLH skos:exactMatch hgnc.symbol:17945 semapv:UnspecifiedMatching -OMIM:602663 PRLH skos:exactMatch hgnc.symbol:PRLH semapv:UnspecifiedMatching -OMIM:602663 PRLH skos:exactMatch ncbigene:51052 semapv:UnspecifiedMatching -OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:1505 semapv:UnspecifiedMatching -OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:CASP4 semapv:UnspecifiedMatching -OMIM:602664 CASP4 skos:exactMatch ncbigene:837 semapv:UnspecifiedMatching -OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:1506 semapv:UnspecifiedMatching -OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:CASP5 semapv:UnspecifiedMatching -OMIM:602665 CASP5 skos:exactMatch ncbigene:838 semapv:UnspecifiedMatching -OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:7594 semapv:UnspecifiedMatching -OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:MYO15A semapv:UnspecifiedMatching -OMIM:602666 MYO15A skos:exactMatch ncbigene:51168 semapv:UnspecifiedMatching -OMIM:602667 NBN skos:exactMatch hgnc.symbol:7652 semapv:UnspecifiedMatching -OMIM:602667 NBN skos:exactMatch hgnc.symbol:NBN semapv:UnspecifiedMatching -OMIM:602667 NBN skos:exactMatch ncbigene:4683 semapv:UnspecifiedMatching -OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:9006 semapv:UnspecifiedMatching -OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:PITX3 semapv:UnspecifiedMatching -OMIM:602669 PITX3 skos:exactMatch ncbigene:5309 semapv:UnspecifiedMatching -OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:9178 semapv:UnspecifiedMatching -OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:POLE2 semapv:UnspecifiedMatching -OMIM:602670 POLE2 skos:exactMatch ncbigene:5427 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0342749 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch UMLS:C1414895 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:4061 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:SLC37A4 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch ncbigene:2542 semapv:UnspecifiedMatching -OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:9762 semapv:UnspecifiedMatching -OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:RAB13 semapv:UnspecifiedMatching -OMIM:602672 RAB13 skos:exactMatch ncbigene:5872 semapv:UnspecifiedMatching -OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:6358 semapv:UnspecifiedMatching -OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:KLK10 semapv:UnspecifiedMatching -OMIM:602673 KLK10 skos:exactMatch ncbigene:5655 semapv:UnspecifiedMatching -OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:10078 semapv:UnspecifiedMatching -OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:RNPEP semapv:UnspecifiedMatching -OMIM:602675 RNPEP skos:exactMatch ncbigene:6051 semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch UMLS:C1418428 semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:8788 semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:PDE6D semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch ncbigene:5147 semapv:UnspecifiedMatching -OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:10068 semapv:UnspecifiedMatching -OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:RNF5 semapv:UnspecifiedMatching -OMIM:602677 RNF5 skos:exactMatch ncbigene:6048 semapv:UnspecifiedMatching -OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:6897 semapv:UnspecifiedMatching -OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:MARK3 semapv:UnspecifiedMatching -OMIM:602678 MARK3 skos:exactMatch ncbigene:4140 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch UMLS:C1418398 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:8756 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:PCYT2 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch ncbigene:5833 semapv:UnspecifiedMatching -OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:675 semapv:UnspecifiedMatching -OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:ARHGAP5 semapv:UnspecifiedMatching -OMIM:602680 ARHGAP5 skos:exactMatch ncbigene:394 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch UMLS:C1333573 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:3821 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:FOXO3 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch ncbigene:2309 semapv:UnspecifiedMatching -OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:943 semapv:UnspecifiedMatching -OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:ADGRB1 semapv:UnspecifiedMatching -OMIM:602682 ADGRB1 skos:exactMatch ncbigene:575 semapv:UnspecifiedMatching -OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:944 semapv:UnspecifiedMatching -OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:ADGRB2 semapv:UnspecifiedMatching -OMIM:602683 ADGRB2 skos:exactMatch ncbigene:576 semapv:UnspecifiedMatching -OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:945 semapv:UnspecifiedMatching -OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:ADGRB3 semapv:UnspecifiedMatching -OMIM:602684 ADGRB3 skos:exactMatch ncbigene:577 semapv:UnspecifiedMatching -OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:6762 semapv:UnspecifiedMatching -OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:MAD1L1 semapv:UnspecifiedMatching -OMIM:602686 MAD1L1 skos:exactMatch ncbigene:8379 semapv:UnspecifiedMatching -OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:5034 semapv:UnspecifiedMatching -OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:HNRNPAB semapv:UnspecifiedMatching -OMIM:602688 HNRNPAB skos:exactMatch ncbigene:3182 semapv:UnspecifiedMatching -OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:11148 semapv:UnspecifiedMatching -OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:FSCN1 semapv:UnspecifiedMatching -OMIM:602689 FSCN1 skos:exactMatch ncbigene:6624 semapv:UnspecifiedMatching -OMIM:602690 SDHD skos:exactMatch hgnc.symbol:10683 semapv:UnspecifiedMatching -OMIM:602690 SDHD skos:exactMatch hgnc.symbol:SDHD semapv:UnspecifiedMatching -OMIM:602690 SDHD skos:exactMatch ncbigene:6392 semapv:UnspecifiedMatching -OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:7668 semapv:UnspecifiedMatching -OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:NCOA1 semapv:UnspecifiedMatching -OMIM:602691 NCOA1 skos:exactMatch ncbigene:8648 semapv:UnspecifiedMatching -OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:17001 semapv:UnspecifiedMatching -OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:GLIPR1 semapv:UnspecifiedMatching -OMIM:602692 GLIPR1 skos:exactMatch ncbigene:11010 semapv:UnspecifiedMatching -OMIM:602693 MCM3 skos:exactMatch UMLS:C1334490 semapv:UnspecifiedMatching -OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:6945 semapv:UnspecifiedMatching -OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:MCM3 semapv:UnspecifiedMatching -OMIM:602693 MCM3 skos:exactMatch ncbigene:4172 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1417647 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:7711 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:NDUFS4 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch ncbigene:4724 semapv:UnspecifiedMatching -OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:11927 semapv:UnspecifiedMatching -OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:TNFSF12 semapv:UnspecifiedMatching -OMIM:602695 TNFSF12 skos:exactMatch ncbigene:8742 semapv:UnspecifiedMatching -OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:6948 semapv:UnspecifiedMatching -OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:MCM5 semapv:UnspecifiedMatching -OMIM:602696 MCM5 skos:exactMatch ncbigene:4174 semapv:UnspecifiedMatching -OMIM:602697 P2RY11 skos:exactMatch hgnc.symbol:8540 semapv:UnspecifiedMatching -OMIM:602697 P2RY11 skos:exactMatch hgnc.symbol:P2RY11 semapv:UnspecifiedMatching -OMIM:602697 P2RY11 skos:exactMatch ncbigene:5032 semapv:UnspecifiedMatching -OMIM:602698 NFATC3 skos:exactMatch UMLS:C1417696 semapv:UnspecifiedMatching -OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:7777 semapv:UnspecifiedMatching -OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:NFATC3 semapv:UnspecifiedMatching -OMIM:602698 NFATC3 skos:exactMatch ncbigene:4775 semapv:UnspecifiedMatching -OMIM:602699 NFATC4 skos:exactMatch UMLS:C1417697 semapv:UnspecifiedMatching -OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:7778 semapv:UnspecifiedMatching -OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:NFATC4 semapv:UnspecifiedMatching -OMIM:602699 NFATC4 skos:exactMatch ncbigene:4776 semapv:UnspecifiedMatching -OMIM:602700 EP300 skos:exactMatch hgnc.symbol:3373 semapv:UnspecifiedMatching -OMIM:602700 EP300 skos:exactMatch hgnc.symbol:EP300 semapv:UnspecifiedMatching -OMIM:602700 EP300 skos:exactMatch ncbigene:2033 semapv:UnspecifiedMatching -OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:16643 semapv:UnspecifiedMatching -OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:SLMAP semapv:UnspecifiedMatching -OMIM:602701 SLMAP skos:exactMatch ncbigene:7871 semapv:UnspecifiedMatching -OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:16893 semapv:UnspecifiedMatching -OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:PLIN3 semapv:UnspecifiedMatching -OMIM:602702 PLIN3 skos:exactMatch ncbigene:10226 semapv:UnspecifiedMatching -OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:6217 semapv:UnspecifiedMatching -OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:KATNB1 semapv:UnspecifiedMatching -OMIM:602703 KATNB1 skos:exactMatch ncbigene:10300 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch UMLS:C1417089 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:6974 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:MDM4 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch ncbigene:4194 semapv:UnspecifiedMatching -OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:11496 semapv:UnspecifiedMatching -OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:SYN3 semapv:UnspecifiedMatching -OMIM:602705 SYN3 skos:exactMatch ncbigene:8224 semapv:UnspecifiedMatching -OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:9547 semapv:UnspecifiedMatching -OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:PSMC1 semapv:UnspecifiedMatching -OMIM:602706 PSMC1 skos:exactMatch ncbigene:5700 semapv:UnspecifiedMatching -OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:9551 semapv:UnspecifiedMatching -OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:PSMC4 semapv:UnspecifiedMatching -OMIM:602707 PSMC4 skos:exactMatch ncbigene:5704 semapv:UnspecifiedMatching -OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:9553 semapv:UnspecifiedMatching -OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:PSMC6 semapv:UnspecifiedMatching -OMIM:602708 PSMC6 skos:exactMatch ncbigene:5706 semapv:UnspecifiedMatching -OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:581 semapv:UnspecifiedMatching -OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:APBB1 semapv:UnspecifiedMatching -OMIM:602709 APBB1 skos:exactMatch ncbigene:322 semapv:UnspecifiedMatching -OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:582 semapv:UnspecifiedMatching -OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:APBB2 semapv:UnspecifiedMatching -OMIM:602710 APBB2 skos:exactMatch ncbigene:323 semapv:UnspecifiedMatching -OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:20708 semapv:UnspecifiedMatching -OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:APBB3 semapv:UnspecifiedMatching -OMIM:602711 APBB3 skos:exactMatch ncbigene:10307 semapv:UnspecifiedMatching -OMIM:602712 APBA2 skos:exactMatch UMLS:C1412457 semapv:UnspecifiedMatching -OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:579 semapv:UnspecifiedMatching -OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:APBA2 semapv:UnspecifiedMatching -OMIM:602712 APBA2 skos:exactMatch ncbigene:321 semapv:UnspecifiedMatching -OMIM:602713 ADAM9 skos:exactMatch hgnc.symbol:216 semapv:UnspecifiedMatching -OMIM:602713 ADAM9 skos:exactMatch hgnc.symbol:ADAM9 semapv:UnspecifiedMatching -OMIM:602713 ADAM9 skos:exactMatch ncbigene:8754 semapv:UnspecifiedMatching -OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:190 semapv:UnspecifiedMatching -OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:ADAM12 semapv:UnspecifiedMatching -OMIM:602714 ADAM12 skos:exactMatch ncbigene:8038 semapv:UnspecifiedMatching -OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:6647 semapv:UnspecifiedMatching -OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:LMOD1 semapv:UnspecifiedMatching -OMIM:602715 LMOD1 skos:exactMatch ncbigene:25802 semapv:UnspecifiedMatching -OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:7908 semapv:UnspecifiedMatching -OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:NPHS1 semapv:UnspecifiedMatching -OMIM:602716 NPHS1 skos:exactMatch ncbigene:4868 semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch UMLS:C1415302 semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:4588 semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:GRIN2D semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch ncbigene:2906 semapv:UnspecifiedMatching -OMIM:602718 TRA2A skos:exactMatch UMLS:C1864500 semapv:UnspecifiedMatching -OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:16645 semapv:UnspecifiedMatching -OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:TRA2A semapv:UnspecifiedMatching -OMIM:602718 TRA2A skos:exactMatch ncbigene:29896 semapv:UnspecifiedMatching -OMIM:602719 TRA2B skos:exactMatch UMLS:C1419990 semapv:UnspecifiedMatching -OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:10781 semapv:UnspecifiedMatching -OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:TRA2B semapv:UnspecifiedMatching -OMIM:602719 TRA2B skos:exactMatch ncbigene:6434 semapv:UnspecifiedMatching -OMIM:602720 PON3 skos:exactMatch hgnc.symbol:9206 semapv:UnspecifiedMatching -OMIM:602720 PON3 skos:exactMatch hgnc.symbol:PON3 semapv:UnspecifiedMatching -OMIM:602720 PON3 skos:exactMatch ncbigene:5446 semapv:UnspecifiedMatching -OMIM:602721 DMC1 skos:exactMatch hgnc.symbol:2927 semapv:UnspecifiedMatching -OMIM:602721 DMC1 skos:exactMatch hgnc.symbol:DMC1 semapv:UnspecifiedMatching -OMIM:602721 DMC1 skos:exactMatch ncbigene:11144 semapv:UnspecifiedMatching -OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching -OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching -OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching -OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:9164 semapv:UnspecifiedMatching -OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:SEPTIN5 semapv:UnspecifiedMatching -OMIM:602724 SEPT5 skos:exactMatch ncbigene:5413 semapv:UnspecifiedMatching -OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:5457 semapv:UnspecifiedMatching -OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:IFRD2 semapv:UnspecifiedMatching -OMIM:602725 IFRD2 skos:exactMatch ncbigene:7866 semapv:UnspecifiedMatching -OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:2024 semapv:UnspecifiedMatching -OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:CLCN6 semapv:UnspecifiedMatching -OMIM:602726 CLCN6 skos:exactMatch ncbigene:1185 semapv:UnspecifiedMatching -OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:2025 semapv:UnspecifiedMatching -OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:CLCN7 semapv:UnspecifiedMatching -OMIM:602727 CLCN7 skos:exactMatch ncbigene:1186 semapv:UnspecifiedMatching -OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:19000 semapv:UnspecifiedMatching -OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:SCARA3 semapv:UnspecifiedMatching -OMIM:602728 SCARA3 skos:exactMatch ncbigene:51435 semapv:UnspecifiedMatching -OMIM:602729 GABRP skos:exactMatch hgnc.symbol:4089 semapv:UnspecifiedMatching -OMIM:602729 GABRP skos:exactMatch hgnc.symbol:GABRP semapv:UnspecifiedMatching -OMIM:602729 GABRP skos:exactMatch ncbigene:2568 semapv:UnspecifiedMatching -OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:174 semapv:UnspecifiedMatching -OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:ACVR2B semapv:UnspecifiedMatching -OMIM:602730 ACVR2B skos:exactMatch ncbigene:93 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch UMLS:C1414885 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:4036 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:FYB1 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch ncbigene:2533 semapv:UnspecifiedMatching -OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:673 semapv:UnspecifiedMatching -OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:ARHGAP1 semapv:UnspecifiedMatching -OMIM:602732 ARHGAP1 skos:exactMatch ncbigene:392 semapv:UnspecifiedMatching -OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:412 semapv:UnspecifiedMatching -OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:ALDH9A1 semapv:UnspecifiedMatching -OMIM:602733 ALDH9A1 skos:exactMatch ncbigene:223 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch UMLS:C1418657 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:9090 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:PLS1 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch ncbigene:5357 semapv:UnspecifiedMatching -OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:9934 semapv:UnspecifiedMatching -OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:RCN1 semapv:UnspecifiedMatching -OMIM:602735 RCN1 skos:exactMatch ncbigene:5954 semapv:UnspecifiedMatching -OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:843 semapv:UnspecifiedMatching -OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:ATP5MC3 semapv:UnspecifiedMatching -OMIM:602736 ATP5MC3 skos:exactMatch ncbigene:518 semapv:UnspecifiedMatching -OMIM:602737 CCL21 skos:exactMatch UMLS:C1332684 semapv:UnspecifiedMatching -OMIM:602737 CCL21 skos:exactMatch hgnc.symbol:10620 semapv:UnspecifiedMatching -OMIM:602737 CCL21 skos:exactMatch hgnc.symbol:CCL21 semapv:UnspecifiedMatching -OMIM:602737 CCL21 skos:exactMatch ncbigene:6366 semapv:UnspecifiedMatching -OMIM:602738 KPNB1 skos:exactMatch hgnc.symbol:6400 semapv:UnspecifiedMatching -OMIM:602738 KPNB1 skos:exactMatch hgnc.symbol:KPNB1 semapv:UnspecifiedMatching -OMIM:602738 KPNB1 skos:exactMatch ncbigene:3837 semapv:UnspecifiedMatching -OMIM:602739 PRKAA1 skos:exactMatch hgnc.symbol:9376 semapv:UnspecifiedMatching -OMIM:602739 PRKAA1 skos:exactMatch hgnc.symbol:PRKAA1 semapv:UnspecifiedMatching -OMIM:602739 PRKAA1 skos:exactMatch ncbigene:5562 semapv:UnspecifiedMatching -OMIM:602740 PRKAB1 skos:exactMatch hgnc.symbol:9378 semapv:UnspecifiedMatching -OMIM:602740 PRKAB1 skos:exactMatch hgnc.symbol:PRKAB1 semapv:UnspecifiedMatching -OMIM:602740 PRKAB1 skos:exactMatch ncbigene:5564 semapv:UnspecifiedMatching -OMIM:602741 PRKAB2 skos:exactMatch hgnc.symbol:9379 semapv:UnspecifiedMatching -OMIM:602741 PRKAB2 skos:exactMatch hgnc.symbol:PRKAB2 semapv:UnspecifiedMatching -OMIM:602741 PRKAB2 skos:exactMatch ncbigene:5565 semapv:UnspecifiedMatching -OMIM:602742 PRKAG1 skos:exactMatch hgnc.symbol:9385 semapv:UnspecifiedMatching -OMIM:602742 PRKAG1 skos:exactMatch hgnc.symbol:PRKAG1 semapv:UnspecifiedMatching -OMIM:602742 PRKAG1 skos:exactMatch ncbigene:5571 semapv:UnspecifiedMatching -OMIM:602743 PRKAG2 skos:exactMatch hgnc.symbol:9386 semapv:UnspecifiedMatching -OMIM:602743 PRKAG2 skos:exactMatch hgnc.symbol:PRKAG2 semapv:UnspecifiedMatching -OMIM:602743 PRKAG2 skos:exactMatch ncbigene:51422 semapv:UnspecifiedMatching -OMIM:602744 GNPAT skos:exactMatch hgnc.symbol:4416 semapv:UnspecifiedMatching -OMIM:602744 GNPAT skos:exactMatch hgnc.symbol:GNPAT semapv:UnspecifiedMatching -OMIM:602744 GNPAT skos:exactMatch ncbigene:8443 semapv:UnspecifiedMatching -OMIM:602745 PIP5K1B skos:exactMatch hgnc.symbol:8995 semapv:UnspecifiedMatching -OMIM:602745 PIP5K1B skos:exactMatch hgnc.symbol:PIP5K1B semapv:UnspecifiedMatching -OMIM:602745 PIP5K1B skos:exactMatch ncbigene:8395 semapv:UnspecifiedMatching -OMIM:602746 TNFRSF14 skos:exactMatch hgnc.symbol:11912 semapv:UnspecifiedMatching -OMIM:602746 TNFRSF14 skos:exactMatch hgnc.symbol:TNFRSF14 semapv:UnspecifiedMatching -OMIM:602746 TNFRSF14 skos:exactMatch ncbigene:8764 semapv:UnspecifiedMatching -OMIM:602747 DUSP4 skos:exactMatch hgnc.symbol:3070 semapv:UnspecifiedMatching -OMIM:602747 DUSP4 skos:exactMatch hgnc.symbol:DUSP4 semapv:UnspecifiedMatching -OMIM:602747 DUSP4 skos:exactMatch ncbigene:1846 semapv:UnspecifiedMatching -OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:3072 semapv:UnspecifiedMatching -OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:DUSP6 semapv:UnspecifiedMatching -OMIM:602748 DUSP6 skos:exactMatch ncbigene:1848 semapv:UnspecifiedMatching -OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:3073 semapv:UnspecifiedMatching -OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:DUSP7 semapv:UnspecifiedMatching -OMIM:602749 DUSP7 skos:exactMatch ncbigene:1849 semapv:UnspecifiedMatching -OMIM:602750 DDT skos:exactMatch hgnc.symbol:2732 semapv:UnspecifiedMatching -OMIM:602750 DDT skos:exactMatch hgnc.symbol:DDT semapv:UnspecifiedMatching -OMIM:602750 DDT skos:exactMatch ncbigene:1652 semapv:UnspecifiedMatching -OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:935 semapv:UnspecifiedMatching -OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:BACH1 semapv:UnspecifiedMatching -OMIM:602751 BACH1 skos:exactMatch ncbigene:571 semapv:UnspecifiedMatching -OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:9849 semapv:UnspecifiedMatching -OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:RGPD8 semapv:UnspecifiedMatching -OMIM:602752 RGPD8 skos:exactMatch ncbigene:727851 semapv:UnspecifiedMatching -OMIM:602753 PHOX2A skos:exactMatch hgnc.symbol:691 semapv:UnspecifiedMatching -OMIM:602753 PHOX2A skos:exactMatch hgnc.symbol:PHOX2A semapv:UnspecifiedMatching -OMIM:602753 PHOX2A skos:exactMatch ncbigene:401 semapv:UnspecifiedMatching -OMIM:602754 KCNN4 skos:exactMatch hgnc.symbol:6293 semapv:UnspecifiedMatching -OMIM:602754 KCNN4 skos:exactMatch hgnc.symbol:KCNN4 semapv:UnspecifiedMatching -OMIM:602754 KCNN4 skos:exactMatch ncbigene:3783 semapv:UnspecifiedMatching -OMIM:602755 CCNB2 skos:exactMatch hgnc.symbol:1580 semapv:UnspecifiedMatching -OMIM:602755 CCNB2 skos:exactMatch hgnc.symbol:CCNB2 semapv:UnspecifiedMatching -OMIM:602755 CCNB2 skos:exactMatch ncbigene:9133 semapv:UnspecifiedMatching -OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:3222 semapv:UnspecifiedMatching -OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:EFNA2 semapv:UnspecifiedMatching -OMIM:602756 EFNA2 skos:exactMatch ncbigene:1943 semapv:UnspecifiedMatching -OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:3396 semapv:UnspecifiedMatching -OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:EPHB6 semapv:UnspecifiedMatching -OMIM:602757 EPHB6 skos:exactMatch ncbigene:2051 semapv:UnspecifiedMatching -OMIM:602758 PI4KB skos:exactMatch UMLS:C1335216 semapv:UnspecifiedMatching -OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:8984 semapv:UnspecifiedMatching -OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:PI4KB semapv:UnspecifiedMatching -OMIM:602758 PI4KB skos:exactMatch ncbigene:5298 semapv:UnspecifiedMatching -OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:6449 semapv:UnspecifiedMatching -OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:KRT32 semapv:UnspecifiedMatching -OMIM:602760 KRT32 skos:exactMatch ncbigene:3882 semapv:UnspecifiedMatching -OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:6450 semapv:UnspecifiedMatching -OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:KRT33A semapv:UnspecifiedMatching -OMIM:602761 KRT33A skos:exactMatch ncbigene:3883 semapv:UnspecifiedMatching -OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:6451 semapv:UnspecifiedMatching -OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:KRT33B semapv:UnspecifiedMatching -OMIM:602762 KRT33B skos:exactMatch ncbigene:3884 semapv:UnspecifiedMatching -OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:6452 semapv:UnspecifiedMatching -OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:KRT34 semapv:UnspecifiedMatching -OMIM:602763 KRT34 skos:exactMatch ncbigene:3885 semapv:UnspecifiedMatching -OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:6453 semapv:UnspecifiedMatching -OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:KRT35 semapv:UnspecifiedMatching -OMIM:602764 KRT35 skos:exactMatch ncbigene:3886 semapv:UnspecifiedMatching -OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:6460 semapv:UnspecifiedMatching -OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:KRT83 semapv:UnspecifiedMatching -OMIM:602765 KRT83 skos:exactMatch ncbigene:3889 semapv:UnspecifiedMatching -OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:6461 semapv:UnspecifiedMatching -OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:KRT84 semapv:UnspecifiedMatching -OMIM:602766 KRT84 skos:exactMatch ncbigene:3890 semapv:UnspecifiedMatching -OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:6462 semapv:UnspecifiedMatching -OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:KRT85 semapv:UnspecifiedMatching -OMIM:602767 KRT85 skos:exactMatch ncbigene:3891 semapv:UnspecifiedMatching -OMIM:602768 DLL3 skos:exactMatch UMLS:C0265343 semapv:UnspecifiedMatching -OMIM:602768 DLL3 skos:exactMatch UMLS:C1414071 semapv:UnspecifiedMatching -OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:2909 semapv:UnspecifiedMatching -OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:DLL3 semapv:UnspecifiedMatching -OMIM:602768 DLL3 skos:exactMatch ncbigene:10683 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C1414123 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:2978 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:DNMT3A semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch ncbigene:1788 semapv:UnspecifiedMatching -OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:1552 semapv:UnspecifiedMatching -OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:CBX2 semapv:UnspecifiedMatching -OMIM:602770 CBX2 skos:exactMatch ncbigene:84733 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch UMLS:C1424449 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:16628 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:SLC49A4 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch ncbigene:84925 semapv:UnspecifiedMatching -OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:9820 semapv:UnspecifiedMatching -OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:RAD51C semapv:UnspecifiedMatching -OMIM:602774 RAD51C skos:exactMatch ncbigene:5889 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch UMLS:C1423500 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:15454 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:SHOC2 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch ncbigene:8036 semapv:UnspecifiedMatching -OMIM:602776 REV3L skos:exactMatch hgnc.symbol:9968 semapv:UnspecifiedMatching -OMIM:602776 REV3L skos:exactMatch hgnc.symbol:REV3L semapv:UnspecifiedMatching -OMIM:602776 REV3L skos:exactMatch ncbigene:5980 semapv:UnspecifiedMatching -OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:11137 semapv:UnspecifiedMatching -OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:SNAPC4 semapv:UnspecifiedMatching -OMIM:602777 SNAPC4 skos:exactMatch ncbigene:6621 semapv:UnspecifiedMatching -OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:7985 semapv:UnspecifiedMatching -OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:NR6A1 semapv:UnspecifiedMatching -OMIM:602778 NR6A1 skos:exactMatch ncbigene:2649 semapv:UnspecifiedMatching -OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:3540 semapv:UnspecifiedMatching -OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:F2RL3 semapv:UnspecifiedMatching -OMIM:602779 F2RL3 skos:exactMatch ncbigene:9002 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch UMLS:C1415498 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:4845 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:HCN1 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch ncbigene:348980 semapv:UnspecifiedMatching -OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:4846 semapv:UnspecifiedMatching -OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:HCN2 semapv:UnspecifiedMatching -OMIM:602781 HCN2 skos:exactMatch ncbigene:610 semapv:UnspecifiedMatching -OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:11237 semapv:UnspecifiedMatching -OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:SPG7 semapv:UnspecifiedMatching -OMIM:602783 SPG7 skos:exactMatch ncbigene:6687 semapv:UnspecifiedMatching -OMIM:602784 CORT skos:exactMatch hgnc.symbol:2257 semapv:UnspecifiedMatching -OMIM:602784 CORT skos:exactMatch hgnc.symbol:CORT semapv:UnspecifiedMatching -OMIM:602784 CORT skos:exactMatch ncbigene:1325 semapv:UnspecifiedMatching -OMIM:602785 H1FX skos:exactMatch hgnc.symbol:4722 semapv:UnspecifiedMatching -OMIM:602785 H1FX skos:exactMatch hgnc.symbol:H1-10 semapv:UnspecifiedMatching -OMIM:602785 H1FX skos:exactMatch ncbigene:8971 semapv:UnspecifiedMatching -OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:4724 semapv:UnspecifiedMatching -OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:H2AC8 semapv:UnspecifiedMatching -OMIM:602786 HIST1H2AE skos:exactMatch ncbigene:3012 semapv:UnspecifiedMatching -OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:4725 semapv:UnspecifiedMatching -OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:H2AC13 semapv:UnspecifiedMatching -OMIM:602787 HIST1H2AI skos:exactMatch ncbigene:8329 semapv:UnspecifiedMatching -OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:4726 semapv:UnspecifiedMatching -OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:H2AC15 semapv:UnspecifiedMatching -OMIM:602788 HIST1H2AK skos:exactMatch ncbigene:8330 semapv:UnspecifiedMatching -OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:3704 semapv:UnspecifiedMatching -OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:FHL3 semapv:UnspecifiedMatching -OMIM:602790 FHL3 skos:exactMatch ncbigene:2275 semapv:UnspecifiedMatching -OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:4727 semapv:UnspecifiedMatching -OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:H2AC14 semapv:UnspecifiedMatching -OMIM:602791 HIST1H2AJ skos:exactMatch ncbigene:8331 semapv:UnspecifiedMatching -OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:4729 semapv:UnspecifiedMatching -OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:H2AC7 semapv:UnspecifiedMatching -OMIM:602792 HIST1H2AD skos:exactMatch ncbigene:3013 semapv:UnspecifiedMatching -OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:4730 semapv:UnspecifiedMatching -OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:H2AC16 semapv:UnspecifiedMatching -OMIM:602793 HIST1H2AL skos:exactMatch ncbigene:8332 semapv:UnspecifiedMatching -OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:4733 semapv:UnspecifiedMatching -OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:H2AC6 semapv:UnspecifiedMatching -OMIM:602794 HIST1H2AC skos:exactMatch ncbigene:8334 semapv:UnspecifiedMatching -OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:4734 semapv:UnspecifiedMatching -OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:H2AC4 semapv:UnspecifiedMatching -OMIM:602795 HIST1H2AB skos:exactMatch ncbigene:8335 semapv:UnspecifiedMatching -OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:4735 semapv:UnspecifiedMatching -OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:H2AC17 semapv:UnspecifiedMatching -OMIM:602796 HIST1H2AM skos:exactMatch ncbigene:8336 semapv:UnspecifiedMatching -OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:4738 semapv:UnspecifiedMatching -OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:H2AC20 semapv:UnspecifiedMatching -OMIM:602797 HIST2H2AC skos:exactMatch ncbigene:8338 semapv:UnspecifiedMatching -OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:4746 semapv:UnspecifiedMatching -OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:H2BC8 semapv:UnspecifiedMatching -OMIM:602798 HIST1H2BG skos:exactMatch ncbigene:8339 semapv:UnspecifiedMatching -OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:4747 semapv:UnspecifiedMatching -OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:H2BC5 semapv:UnspecifiedMatching -OMIM:602799 HIST1H2BD skos:exactMatch ncbigene:3017 semapv:UnspecifiedMatching -OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:4748 semapv:UnspecifiedMatching -OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:H2BC13 semapv:UnspecifiedMatching -OMIM:602800 HIST1H2BL skos:exactMatch ncbigene:8340 semapv:UnspecifiedMatching -OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:4749 semapv:UnspecifiedMatching -OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:H2BC15 semapv:UnspecifiedMatching -OMIM:602801 HIST1H2BN skos:exactMatch ncbigene:8341 semapv:UnspecifiedMatching -OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:4750 semapv:UnspecifiedMatching -OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:H2BC14 semapv:UnspecifiedMatching -OMIM:602802 HIST1H2BM skos:exactMatch ncbigene:8342 semapv:UnspecifiedMatching -OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:4751 semapv:UnspecifiedMatching -OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:H2BC3 semapv:UnspecifiedMatching -OMIM:602803 HIST1H2BB skos:exactMatch ncbigene:3018 semapv:UnspecifiedMatching -OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:4752 semapv:UnspecifiedMatching -OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:H2BC7 semapv:UnspecifiedMatching -OMIM:602804 HIST1H2BF skos:exactMatch ncbigene:8343 semapv:UnspecifiedMatching -OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:4753 semapv:UnspecifiedMatching -OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:H2BC6 semapv:UnspecifiedMatching -OMIM:602805 HIST1H2BE skos:exactMatch ncbigene:8344 semapv:UnspecifiedMatching -OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:4755 semapv:UnspecifiedMatching -OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:H2BC9 semapv:UnspecifiedMatching -OMIM:602806 HIST1H2BH skos:exactMatch ncbigene:8345 semapv:UnspecifiedMatching -OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:4756 semapv:UnspecifiedMatching -OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:H2BC10 semapv:UnspecifiedMatching -OMIM:602807 HIST1H2BI skos:exactMatch ncbigene:8346 semapv:UnspecifiedMatching -OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:4758 semapv:UnspecifiedMatching -OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:H2BC17 semapv:UnspecifiedMatching -OMIM:602808 HIST1H2BO skos:exactMatch ncbigene:8348 semapv:UnspecifiedMatching -OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:6324 semapv:UnspecifiedMatching -OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:KIF5B semapv:UnspecifiedMatching -OMIM:602809 KIF5B skos:exactMatch ncbigene:3799 semapv:UnspecifiedMatching -OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:4766 semapv:UnspecifiedMatching -OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:H3C1 semapv:UnspecifiedMatching -OMIM:602810 HIST1H3A skos:exactMatch ncbigene:8350 semapv:UnspecifiedMatching -OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:4767 semapv:UnspecifiedMatching -OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:H3C4 semapv:UnspecifiedMatching -OMIM:602811 HIST1H3D skos:exactMatch ncbigene:8351 semapv:UnspecifiedMatching -OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:4768 semapv:UnspecifiedMatching -OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:H3C3 semapv:UnspecifiedMatching -OMIM:602812 HIST1H3C skos:exactMatch ncbigene:8352 semapv:UnspecifiedMatching -OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:4769 semapv:UnspecifiedMatching -OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:H3C6 semapv:UnspecifiedMatching -OMIM:602813 HIST1H3E skos:exactMatch ncbigene:8353 semapv:UnspecifiedMatching -OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:4771 semapv:UnspecifiedMatching -OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:H3C11 semapv:UnspecifiedMatching -OMIM:602814 HIST1H3I skos:exactMatch ncbigene:8354 semapv:UnspecifiedMatching -OMIM:602815 HIST1H3G skos:exactMatch hgnc.symbol:4772 semapv:UnspecifiedMatching -OMIM:602815 HIST1H3G skos:exactMatch hgnc.symbol:H3C8 semapv:UnspecifiedMatching -OMIM:602815 HIST1H3G skos:exactMatch ncbigene:8355 semapv:UnspecifiedMatching -OMIM:602816 HIST1H3F skos:exactMatch hgnc.symbol:4773 semapv:UnspecifiedMatching -OMIM:602816 HIST1H3F skos:exactMatch hgnc.symbol:H3C7 semapv:UnspecifiedMatching -OMIM:602816 HIST1H3F skos:exactMatch ncbigene:8968 semapv:UnspecifiedMatching -OMIM:602817 HIST1H3J skos:exactMatch hgnc.symbol:4774 semapv:UnspecifiedMatching -OMIM:602817 HIST1H3J skos:exactMatch hgnc.symbol:H3C12 semapv:UnspecifiedMatching -OMIM:602817 HIST1H3J skos:exactMatch ncbigene:8356 semapv:UnspecifiedMatching -OMIM:602818 HIST1H3H skos:exactMatch hgnc.symbol:4775 semapv:UnspecifiedMatching -OMIM:602818 HIST1H3H skos:exactMatch hgnc.symbol:H3C10 semapv:UnspecifiedMatching -OMIM:602818 HIST1H3H skos:exactMatch ncbigene:8357 semapv:UnspecifiedMatching -OMIM:602819 HIST1H3B skos:exactMatch hgnc.symbol:4776 semapv:UnspecifiedMatching -OMIM:602819 HIST1H3B skos:exactMatch hgnc.symbol:H3C2 semapv:UnspecifiedMatching -OMIM:602819 HIST1H3B skos:exactMatch ncbigene:8358 semapv:UnspecifiedMatching -OMIM:602820 HIST3H3 skos:exactMatch hgnc.symbol:4778 semapv:UnspecifiedMatching -OMIM:602820 HIST3H3 skos:exactMatch hgnc.symbol:H3-4 semapv:UnspecifiedMatching -OMIM:602820 HIST3H3 skos:exactMatch ncbigene:8290 semapv:UnspecifiedMatching -OMIM:602821 KIF5A skos:exactMatch hgnc.symbol:6323 semapv:UnspecifiedMatching -OMIM:602821 KIF5A skos:exactMatch hgnc.symbol:KIF5A semapv:UnspecifiedMatching -OMIM:602821 KIF5A skos:exactMatch ncbigene:3798 semapv:UnspecifiedMatching -OMIM:602822 H4C1 skos:exactMatch hgnc.symbol:4781 semapv:UnspecifiedMatching -OMIM:602822 H4C1 skos:exactMatch hgnc.symbol:H4C1 semapv:UnspecifiedMatching -OMIM:602822 H4C1 skos:exactMatch ncbigene:8359 semapv:UnspecifiedMatching -OMIM:602823 H4C4 skos:exactMatch hgnc.symbol:4782 semapv:UnspecifiedMatching -OMIM:602823 H4C4 skos:exactMatch hgnc.symbol:H4C4 semapv:UnspecifiedMatching -OMIM:602823 H4C4 skos:exactMatch ncbigene:8360 semapv:UnspecifiedMatching -OMIM:602824 H4C6 skos:exactMatch hgnc.symbol:4783 semapv:UnspecifiedMatching -OMIM:602824 H4C6 skos:exactMatch hgnc.symbol:H4C6 semapv:UnspecifiedMatching -OMIM:602824 H4C6 skos:exactMatch ncbigene:8361 semapv:UnspecifiedMatching -OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:4784 semapv:UnspecifiedMatching -OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:H4C12 semapv:UnspecifiedMatching -OMIM:602825 H4C12 skos:exactMatch ncbigene:8362 semapv:UnspecifiedMatching -OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:4785 semapv:UnspecifiedMatching -OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:H4C11 semapv:UnspecifiedMatching -OMIM:602826 H4C11 skos:exactMatch ncbigene:8363 semapv:UnspecifiedMatching -OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:4787 semapv:UnspecifiedMatching -OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:H4C3 semapv:UnspecifiedMatching -OMIM:602827 H4C3 skos:exactMatch ncbigene:8364 semapv:UnspecifiedMatching -OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:4788 semapv:UnspecifiedMatching -OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:H4C8 semapv:UnspecifiedMatching -OMIM:602828 H4C8 skos:exactMatch ncbigene:8365 semapv:UnspecifiedMatching -OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:4789 semapv:UnspecifiedMatching -OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:H4C2 semapv:UnspecifiedMatching -OMIM:602829 H4C2 skos:exactMatch ncbigene:8366 semapv:UnspecifiedMatching -OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:4790 semapv:UnspecifiedMatching -OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:H4C5 semapv:UnspecifiedMatching -OMIM:602830 H4C5 skos:exactMatch ncbigene:8367 semapv:UnspecifiedMatching -OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:4791 semapv:UnspecifiedMatching -OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:H4C13 semapv:UnspecifiedMatching -OMIM:602831 H4C13 skos:exactMatch ncbigene:8368 semapv:UnspecifiedMatching -OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:4792 semapv:UnspecifiedMatching -OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:H4C7 semapv:UnspecifiedMatching -OMIM:602832 H4C7 skos:exactMatch ncbigene:8369 semapv:UnspecifiedMatching -OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:4793 semapv:UnspecifiedMatching -OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:H4C9 semapv:UnspecifiedMatching -OMIM:602833 H4C9 skos:exactMatch ncbigene:8294 semapv:UnspecifiedMatching -OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:4167 semapv:UnspecifiedMatching -OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:GAS2 semapv:UnspecifiedMatching -OMIM:602835 GAS2 skos:exactMatch ncbigene:2620 semapv:UnspecifiedMatching -OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:8536 semapv:UnspecifiedMatching -OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:P2RX5 semapv:UnspecifiedMatching -OMIM:602836 P2RX5 skos:exactMatch ncbigene:5026 semapv:UnspecifiedMatching -OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:5229 semapv:UnspecifiedMatching -OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:DNAJA1 semapv:UnspecifiedMatching -OMIM:602837 DNAJA1 skos:exactMatch ncbigene:3301 semapv:UnspecifiedMatching -OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:8972 semapv:UnspecifiedMatching -OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:PIK3C2B semapv:UnspecifiedMatching -OMIM:602838 PIK3C2B skos:exactMatch ncbigene:5287 semapv:UnspecifiedMatching -OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:8977 semapv:UnspecifiedMatching -OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:PIK3CD semapv:UnspecifiedMatching -OMIM:602839 PIK3CD skos:exactMatch ncbigene:5293 semapv:UnspecifiedMatching -OMIM:602840 CD70 skos:exactMatch hgnc.symbol:11937 semapv:UnspecifiedMatching -OMIM:602840 CD70 skos:exactMatch hgnc.symbol:CD70 semapv:UnspecifiedMatching -OMIM:602840 CD70 skos:exactMatch ncbigene:970 semapv:UnspecifiedMatching -OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:553 semapv:UnspecifiedMatching -OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:AOX1 semapv:UnspecifiedMatching -OMIM:602841 AOX1 skos:exactMatch ncbigene:316 semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch UMLS:C1333683 semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch hgnc.symbol:17493 semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch hgnc.symbol:GMNN semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch ncbigene:51053 semapv:UnspecifiedMatching -OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:679 semapv:UnspecifiedMatching -OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:ARHGDIB semapv:UnspecifiedMatching -OMIM:602843 ARHGDIB skos:exactMatch ncbigene:397 semapv:UnspecifiedMatching -OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:680 semapv:UnspecifiedMatching -OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:ARHGDIG semapv:UnspecifiedMatching -OMIM:602844 ARHGDIG skos:exactMatch ncbigene:398 semapv:UnspecifiedMatching -OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:6321 semapv:UnspecifiedMatching -OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:KIF3C semapv:UnspecifiedMatching -OMIM:602845 KIF3C skos:exactMatch ncbigene:3797 semapv:UnspecifiedMatching -OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:4914 semapv:UnspecifiedMatching -OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:UBE2K semapv:UnspecifiedMatching -OMIM:602846 UBE2K skos:exactMatch ncbigene:3093 semapv:UnspecifiedMatching -OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:4757 semapv:UnspecifiedMatching -OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:H2BC4 semapv:UnspecifiedMatching -OMIM:602847 HIST1H2BC skos:exactMatch ncbigene:8347 semapv:UnspecifiedMatching -OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:19874 semapv:UnspecifiedMatching -OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:BRD8 semapv:UnspecifiedMatching -OMIM:602848 BRD8 skos:exactMatch ncbigene:10902 semapv:UnspecifiedMatching -OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:10067 semapv:UnspecifiedMatching -OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:RNF4 semapv:UnspecifiedMatching -OMIM:602850 RNF4 skos:exactMatch ncbigene:6047 semapv:UnspecifiedMatching -OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:17416 semapv:UnspecifiedMatching -OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:ADGRV1 semapv:UnspecifiedMatching -OMIM:602851 ADGRV1 skos:exactMatch ncbigene:84059 semapv:UnspecifiedMatching -OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:8049 semapv:UnspecifiedMatching -OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:NUDT2 semapv:UnspecifiedMatching -OMIM:602852 NUDT2 skos:exactMatch ncbigene:318 semapv:UnspecifiedMatching -OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:9680 semapv:UnspecifiedMatching -OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:PTPRR semapv:UnspecifiedMatching -OMIM:602853 PTPRR skos:exactMatch ncbigene:5801 semapv:UnspecifiedMatching -OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:9530 semapv:UnspecifiedMatching -OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:PSMA1 semapv:UnspecifiedMatching -OMIM:602854 PSMA1 skos:exactMatch ncbigene:5682 semapv:UnspecifiedMatching -OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:9535 semapv:UnspecifiedMatching -OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:PSMA6 semapv:UnspecifiedMatching -OMIM:602855 PSMA6 skos:exactMatch ncbigene:5687 semapv:UnspecifiedMatching -OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:9992 semapv:UnspecifiedMatching -OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:RGS10 semapv:UnspecifiedMatching -OMIM:602856 RGS10 skos:exactMatch ncbigene:6001 semapv:UnspecifiedMatching -OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:1944 semapv:UnspecifiedMatching -OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:CHN2 semapv:UnspecifiedMatching -OMIM:602857 CHN2 skos:exactMatch ncbigene:1124 semapv:UnspecifiedMatching -OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:2860 semapv:UnspecifiedMatching -OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:DHCR7 semapv:UnspecifiedMatching -OMIM:602858 DHCR7 skos:exactMatch ncbigene:1717 semapv:UnspecifiedMatching -OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:8851 semapv:UnspecifiedMatching -OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:PEX10 semapv:UnspecifiedMatching -OMIM:602859 PEX10 skos:exactMatch ncbigene:5192 semapv:UnspecifiedMatching -OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:1149 semapv:UnspecifiedMatching -OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:BUB1B semapv:UnspecifiedMatching -OMIM:602860 BUB1B skos:exactMatch ncbigene:701 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch UMLS:C1418613 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:9024 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:PKP2 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch ncbigene:5318 semapv:UnspecifiedMatching -OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:12457 semapv:UnspecifiedMatching -OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:UAP1 semapv:UnspecifiedMatching -OMIM:602862 UAP1 skos:exactMatch ncbigene:6675 semapv:UnspecifiedMatching -OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:12778 semapv:UnspecifiedMatching -OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:WNT9A semapv:UnspecifiedMatching -OMIM:602863 WNT9A skos:exactMatch ncbigene:7483 semapv:UnspecifiedMatching -OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:12779 semapv:UnspecifiedMatching -OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:WNT9B semapv:UnspecifiedMatching -OMIM:602864 WNT9B skos:exactMatch ncbigene:7484 semapv:UnspecifiedMatching -OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:2687 semapv:UnspecifiedMatching -OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:BRINP1 semapv:UnspecifiedMatching -OMIM:602865 BRINP1 skos:exactMatch ncbigene:1620 semapv:UnspecifiedMatching -OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:100 semapv:UnspecifiedMatching -OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:ASIC1 semapv:UnspecifiedMatching -OMIM:602866 ASIC1 skos:exactMatch ncbigene:41 semapv:UnspecifiedMatching -OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:5476 semapv:UnspecifiedMatching -OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:IGFBP7 semapv:UnspecifiedMatching -OMIM:602867 IGFBP7 skos:exactMatch ncbigene:3490 semapv:UnspecifiedMatching -OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:1743 semapv:UnspecifiedMatching -OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:CDC5L semapv:UnspecifiedMatching -OMIM:602868 CDC5L skos:exactMatch ncbigene:988 semapv:UnspecifiedMatching -OMIM:602869 HNRNPU skos:exactMatch UMLS:C1415649 semapv:UnspecifiedMatching -OMIM:602869 HNRNPU skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching -OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:5048 semapv:UnspecifiedMatching -OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:HNRNPU semapv:UnspecifiedMatching -OMIM:602869 HNRNPU skos:exactMatch ncbigene:3192 semapv:UnspecifiedMatching -OMIM:602870 IMPG1 skos:exactMatch hgnc.symbol:6055 semapv:UnspecifiedMatching -OMIM:602870 IMPG1 skos:exactMatch hgnc.symbol:IMPG1 semapv:UnspecifiedMatching -OMIM:602870 IMPG1 skos:exactMatch ncbigene:3617 semapv:UnspecifiedMatching -OMIM:602871 PPL skos:exactMatch hgnc.symbol:9273 semapv:UnspecifiedMatching -OMIM:602871 PPL skos:exactMatch hgnc.symbol:PPL semapv:UnspecifiedMatching -OMIM:602871 PPL skos:exactMatch ncbigene:5493 semapv:UnspecifiedMatching -OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:2062 semapv:UnspecifiedMatching -OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:CLIC1 semapv:UnspecifiedMatching -OMIM:602872 CLIC1 skos:exactMatch ncbigene:1192 semapv:UnspecifiedMatching -OMIM:602873 NRAP skos:exactMatch hgnc.symbol:7988 semapv:UnspecifiedMatching -OMIM:602873 NRAP skos:exactMatch hgnc.symbol:NRAP semapv:UnspecifiedMatching -OMIM:602873 NRAP skos:exactMatch ncbigene:4892 semapv:UnspecifiedMatching -OMIM:602874 UGCG skos:exactMatch hgnc.symbol:12524 semapv:UnspecifiedMatching -OMIM:602874 UGCG skos:exactMatch hgnc.symbol:UGCG semapv:UnspecifiedMatching -OMIM:602874 UGCG skos:exactMatch ncbigene:7357 semapv:UnspecifiedMatching -OMIM:602876 OCLN skos:exactMatch hgnc.symbol:8104 semapv:UnspecifiedMatching -OMIM:602876 OCLN skos:exactMatch hgnc.symbol:OCLN semapv:UnspecifiedMatching -OMIM:602876 OCLN skos:exactMatch ncbigene:100506658 semapv:UnspecifiedMatching -OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:9295 semapv:UnspecifiedMatching -OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:PPP1R7 semapv:UnspecifiedMatching -OMIM:602877 PPP1R7 skos:exactMatch ncbigene:5510 semapv:UnspecifiedMatching -OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:11014 semapv:UnspecifiedMatching -OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:SLC30A3 semapv:UnspecifiedMatching -OMIM:602878 SLC30A3 skos:exactMatch ncbigene:7781 semapv:UnspecifiedMatching -OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:3378 semapv:UnspecifiedMatching -OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:EPB41L1 semapv:UnspecifiedMatching -OMIM:602879 EPB41L1 skos:exactMatch ncbigene:2036 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C0040761 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C1415031 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:4214 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:GDF1 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch ncbigene:2657 semapv:UnspecifiedMatching -OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:8919 semapv:UnspecifiedMatching -OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:PHF1 semapv:UnspecifiedMatching -OMIM:602881 PHF1 skos:exactMatch ncbigene:5252 semapv:UnspecifiedMatching -OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:6550 semapv:UnspecifiedMatching -OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:LECT2 semapv:UnspecifiedMatching -OMIM:602882 LECT2 skos:exactMatch ncbigene:3950 semapv:UnspecifiedMatching -OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:10956 semapv:UnspecifiedMatching -OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:SLCO1A2 semapv:UnspecifiedMatching -OMIM:602883 SLCO1A2 skos:exactMatch ncbigene:6579 semapv:UnspecifiedMatching -OMIM:602884 GMDS skos:exactMatch hgnc.symbol:4369 semapv:UnspecifiedMatching -OMIM:602884 GMDS skos:exactMatch hgnc.symbol:GMDS semapv:UnspecifiedMatching -OMIM:602884 GMDS skos:exactMatch ncbigene:2762 semapv:UnspecifiedMatching -OMIM:602885 MLNR skos:exactMatch hgnc.symbol:4495 semapv:UnspecifiedMatching -OMIM:602885 MLNR skos:exactMatch hgnc.symbol:MLNR semapv:UnspecifiedMatching -OMIM:602885 MLNR skos:exactMatch ncbigene:2862 semapv:UnspecifiedMatching -OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:4496 semapv:UnspecifiedMatching -OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:GPR39 semapv:UnspecifiedMatching -OMIM:602886 GPR39 skos:exactMatch ncbigene:2863 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch UMLS:C1333226 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:2903 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:DLG4 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch ncbigene:1742 semapv:UnspecifiedMatching -OMIM:602888 BHMT skos:exactMatch hgnc.symbol:1047 semapv:UnspecifiedMatching -OMIM:602888 BHMT skos:exactMatch hgnc.symbol:BHMT semapv:UnspecifiedMatching -OMIM:602888 BHMT skos:exactMatch ncbigene:635 semapv:UnspecifiedMatching -OMIM:602890 KLRB1 skos:exactMatch hgnc.symbol:6373 semapv:UnspecifiedMatching -OMIM:602890 KLRB1 skos:exactMatch hgnc.symbol:KLRB1 semapv:UnspecifiedMatching -OMIM:602890 KLRB1 skos:exactMatch ncbigene:3820 semapv:UnspecifiedMatching -OMIM:602891 KLRC2 skos:exactMatch hgnc.symbol:6375 semapv:UnspecifiedMatching -OMIM:602891 KLRC2 skos:exactMatch hgnc.symbol:KLRC2 semapv:UnspecifiedMatching -OMIM:602891 KLRC2 skos:exactMatch ncbigene:3822 semapv:UnspecifiedMatching -OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:6376 semapv:UnspecifiedMatching -OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:KLRC3 semapv:UnspecifiedMatching -OMIM:602892 KLRC3 skos:exactMatch ncbigene:3823 semapv:UnspecifiedMatching -OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:6377 semapv:UnspecifiedMatching -OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:KLRC4 semapv:UnspecifiedMatching -OMIM:602893 KLRC4 skos:exactMatch ncbigene:8302 semapv:UnspecifiedMatching -OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:6378 semapv:UnspecifiedMatching -OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:KLRD1 semapv:UnspecifiedMatching -OMIM:602894 KLRD1 skos:exactMatch ncbigene:3824 semapv:UnspecifiedMatching -OMIM:602895 SAFB skos:exactMatch hgnc.symbol:10520 semapv:UnspecifiedMatching -OMIM:602895 SAFB skos:exactMatch hgnc.symbol:SAFB semapv:UnspecifiedMatching -OMIM:602895 SAFB skos:exactMatch ncbigene:6294 semapv:UnspecifiedMatching -OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:6886 semapv:UnspecifiedMatching -OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:MAPK9 semapv:UnspecifiedMatching -OMIM:602896 MAPK9 skos:exactMatch ncbigene:5601 semapv:UnspecifiedMatching -OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:6872 semapv:UnspecifiedMatching -OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:MAPK10 semapv:UnspecifiedMatching -OMIM:602897 MAPK10 skos:exactMatch ncbigene:5602 semapv:UnspecifiedMatching -OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:6873 semapv:UnspecifiedMatching -OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:MAPK11 semapv:UnspecifiedMatching -OMIM:602898 MAPK11 skos:exactMatch ncbigene:5600 semapv:UnspecifiedMatching -OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:6875 semapv:UnspecifiedMatching -OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:MAPK13 semapv:UnspecifiedMatching -OMIM:602899 MAPK13 skos:exactMatch ncbigene:5603 semapv:UnspecifiedMatching -OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:2979 semapv:UnspecifiedMatching -OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:DNMT3B semapv:UnspecifiedMatching -OMIM:602900 DNMT3B skos:exactMatch ncbigene:1789 semapv:UnspecifiedMatching -OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:6401 semapv:UnspecifiedMatching -OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:TNPO1 semapv:UnspecifiedMatching -OMIM:602901 TNPO1 skos:exactMatch ncbigene:3842 semapv:UnspecifiedMatching -OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:1123 semapv:UnspecifiedMatching -OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:KLF9 semapv:UnspecifiedMatching -OMIM:602902 KLF9 skos:exactMatch ncbigene:687 semapv:UnspecifiedMatching -OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:6349 semapv:UnspecifiedMatching -OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:KLF5 semapv:UnspecifiedMatching -OMIM:602903 KLF5 skos:exactMatch ncbigene:688 semapv:UnspecifiedMatching -OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:6879 semapv:UnspecifiedMatching -OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:MAPK6 semapv:UnspecifiedMatching -OMIM:602904 MAPK6 skos:exactMatch ncbigene:5597 semapv:UnspecifiedMatching -OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:6300 semapv:UnspecifiedMatching -OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:KCNS1 semapv:UnspecifiedMatching -OMIM:602905 KCNS1 skos:exactMatch ncbigene:3787 semapv:UnspecifiedMatching -OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:6301 semapv:UnspecifiedMatching -OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:KCNS2 semapv:UnspecifiedMatching -OMIM:602906 KCNS2 skos:exactMatch ncbigene:3788 semapv:UnspecifiedMatching -OMIM:602907 CETN3 skos:exactMatch UMLS:C1413352 semapv:UnspecifiedMatching -OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:1868 semapv:UnspecifiedMatching -OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:CETN3 semapv:UnspecifiedMatching -OMIM:602907 CETN3 skos:exactMatch ncbigene:1070 semapv:UnspecifiedMatching -OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:9892 semapv:UnspecifiedMatching -OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:RBBP9 semapv:UnspecifiedMatching -OMIM:602908 RBBP9 skos:exactMatch ncbigene:10741 semapv:UnspecifiedMatching -OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:2046 semapv:UnspecifiedMatching -OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:CLDN4 semapv:UnspecifiedMatching -OMIM:602909 CLDN4 skos:exactMatch ncbigene:1364 semapv:UnspecifiedMatching -OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:2045 semapv:UnspecifiedMatching -OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:CLDN3 semapv:UnspecifiedMatching -OMIM:602910 CLDN3 skos:exactMatch ncbigene:1365 semapv:UnspecifiedMatching -OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:1406 semapv:UnspecifiedMatching -OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:CACNG2 semapv:UnspecifiedMatching -OMIM:602911 CACNG2 skos:exactMatch ncbigene:10369 semapv:UnspecifiedMatching -OMIM:602912 EIF6 skos:exactMatch UMLS:C1416500 semapv:UnspecifiedMatching -OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:6159 semapv:UnspecifiedMatching -OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:EIF6 semapv:UnspecifiedMatching -OMIM:602912 EIF6 skos:exactMatch ncbigene:3692 semapv:UnspecifiedMatching -OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:2154 semapv:UnspecifiedMatching -OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:PLK3 semapv:UnspecifiedMatching -OMIM:602913 PLK3 skos:exactMatch ncbigene:1263 semapv:UnspecifiedMatching -OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:643 semapv:UnspecifiedMatching -OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:AQP9 semapv:UnspecifiedMatching -OMIM:602914 AQP9 skos:exactMatch ncbigene:366 semapv:UnspecifiedMatching -OMIM:602915 GET1 skos:exactMatch hgnc.symbol:12790 semapv:UnspecifiedMatching -OMIM:602915 GET1 skos:exactMatch hgnc.symbol:GET1 semapv:UnspecifiedMatching -OMIM:602915 GET1 skos:exactMatch ncbigene:7485 semapv:UnspecifiedMatching -OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:12477 semapv:UnspecifiedMatching -OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:UBE2E1 semapv:UnspecifiedMatching -OMIM:602916 UBE2E1 skos:exactMatch ncbigene:7324 semapv:UnspecifiedMatching -OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:3040 semapv:UnspecifiedMatching -OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:RCAN1 semapv:UnspecifiedMatching -OMIM:602917 RCAN1 skos:exactMatch ncbigene:1827 semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch UMLS:C1414534 semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch hgnc.symbol:3592 semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch hgnc.symbol:FARSA semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch ncbigene:2193 semapv:UnspecifiedMatching -OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:2990 semapv:UnspecifiedMatching -OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:DOK1 semapv:UnspecifiedMatching -OMIM:602919 DOK1 skos:exactMatch ncbigene:1796 semapv:UnspecifiedMatching -OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:6513 semapv:UnspecifiedMatching -OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:LASP1 semapv:UnspecifiedMatching -OMIM:602920 LASP1 skos:exactMatch ncbigene:3927 semapv:UnspecifiedMatching -OMIM:602921 PSPN skos:exactMatch hgnc.symbol:9579 semapv:UnspecifiedMatching -OMIM:602921 PSPN skos:exactMatch hgnc.symbol:PSPN semapv:UnspecifiedMatching -OMIM:602921 PSPN skos:exactMatch ncbigene:5623 semapv:UnspecifiedMatching -OMIM:602923 RBBP4 skos:exactMatch hgnc.symbol:9887 semapv:UnspecifiedMatching -OMIM:602923 RBBP4 skos:exactMatch hgnc.symbol:RBBP4 semapv:UnspecifiedMatching -OMIM:602923 RBBP4 skos:exactMatch ncbigene:5928 semapv:UnspecifiedMatching -OMIM:602924 RND3 skos:exactMatch hgnc.symbol:671 semapv:UnspecifiedMatching -OMIM:602924 RND3 skos:exactMatch hgnc.symbol:RND3 semapv:UnspecifiedMatching -OMIM:602924 RND3 skos:exactMatch ncbigene:390 semapv:UnspecifiedMatching -OMIM:602925 PIK3CB skos:exactMatch hgnc.symbol:8976 semapv:UnspecifiedMatching -OMIM:602925 PIK3CB skos:exactMatch hgnc.symbol:PIK3CB semapv:UnspecifiedMatching -OMIM:602925 PIK3CB skos:exactMatch ncbigene:5291 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch UMLS:C1420506 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch hgnc.symbol:11444 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch hgnc.symbol:STXBP1 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch ncbigene:6812 semapv:UnspecifiedMatching -OMIM:602927 GPR19 skos:exactMatch hgnc.symbol:4473 semapv:UnspecifiedMatching -OMIM:602927 GPR19 skos:exactMatch hgnc.symbol:GPR19 semapv:UnspecifiedMatching -OMIM:602927 GPR19 skos:exactMatch ncbigene:2842 semapv:UnspecifiedMatching -OMIM:602928 TMOD2 skos:exactMatch hgnc.symbol:11872 semapv:UnspecifiedMatching -OMIM:602928 TMOD2 skos:exactMatch hgnc.symbol:TMOD2 semapv:UnspecifiedMatching -OMIM:602928 TMOD2 skos:exactMatch ncbigene:29767 semapv:UnspecifiedMatching -OMIM:602929 VWA5A skos:exactMatch hgnc.symbol:6658 semapv:UnspecifiedMatching -OMIM:602929 VWA5A skos:exactMatch hgnc.symbol:VWA5A semapv:UnspecifiedMatching -OMIM:602929 VWA5A skos:exactMatch ncbigene:4013 semapv:UnspecifiedMatching -OMIM:602930 REXO4 skos:exactMatch UMLS:C1826806 semapv:UnspecifiedMatching -OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:12820 semapv:UnspecifiedMatching -OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:REXO4 semapv:UnspecifiedMatching -OMIM:602930 REXO4 skos:exactMatch ncbigene:57109 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch UMLS:C1334469 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch UMLS:C3542024 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch UMLS:C4479677 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:6772 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:SMAD6 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch ncbigene:4091 semapv:UnspecifiedMatching -OMIM:602932 SMAD7 skos:exactMatch UMLS:C1334470 semapv:UnspecifiedMatching -OMIM:602932 SMAD7 skos:exactMatch UMLS:C2677123 semapv:UnspecifiedMatching -OMIM:602932 SMAD7 skos:exactMatch hgnc.symbol:6773 semapv:UnspecifiedMatching -OMIM:602932 SMAD7 skos:exactMatch hgnc.symbol:SMAD7 semapv:UnspecifiedMatching -OMIM:602932 SMAD7 skos:exactMatch ncbigene:4092 semapv:UnspecifiedMatching -OMIM:602933 TRIP6 skos:exactMatch hgnc.symbol:12311 semapv:UnspecifiedMatching -OMIM:602933 TRIP6 skos:exactMatch hgnc.symbol:TRIP6 semapv:UnspecifiedMatching -OMIM:602933 TRIP6 skos:exactMatch ncbigene:7205 semapv:UnspecifiedMatching -OMIM:602934 SDF2 skos:exactMatch hgnc.symbol:10675 semapv:UnspecifiedMatching -OMIM:602934 SDF2 skos:exactMatch hgnc.symbol:SDF2 semapv:UnspecifiedMatching -OMIM:602934 SDF2 skos:exactMatch ncbigene:6388 semapv:UnspecifiedMatching -OMIM:602935 FAAH skos:exactMatch hgnc.symbol:3553 semapv:UnspecifiedMatching -OMIM:602935 FAAH skos:exactMatch hgnc.symbol:FAAH semapv:UnspecifiedMatching -OMIM:602935 FAAH skos:exactMatch ncbigene:2166 semapv:UnspecifiedMatching -OMIM:602937 CITED2 skos:exactMatch hgnc.symbol:1987 semapv:UnspecifiedMatching -OMIM:602937 CITED2 skos:exactMatch hgnc.symbol:CITED2 semapv:UnspecifiedMatching -OMIM:602937 CITED2 skos:exactMatch ncbigene:10370 semapv:UnspecifiedMatching -OMIM:602938 BAAT skos:exactMatch hgnc.symbol:932 semapv:UnspecifiedMatching -OMIM:602938 BAAT skos:exactMatch hgnc.symbol:BAAT semapv:UnspecifiedMatching -OMIM:602938 BAAT skos:exactMatch ncbigene:570 semapv:UnspecifiedMatching -OMIM:602939 FOXS1 skos:exactMatch hgnc.symbol:3735 semapv:UnspecifiedMatching -OMIM:602939 FOXS1 skos:exactMatch hgnc.symbol:FOXS1 semapv:UnspecifiedMatching -OMIM:602939 FOXS1 skos:exactMatch ncbigene:2307 semapv:UnspecifiedMatching -OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:7142 semapv:UnspecifiedMatching -OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:MARCKSL1 semapv:UnspecifiedMatching -OMIM:602940 MARCKSL1 skos:exactMatch ncbigene:65108 semapv:UnspecifiedMatching -OMIM:602941 BCAR1 skos:exactMatch UMLS:C1366459 semapv:UnspecifiedMatching -OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:971 semapv:UnspecifiedMatching -OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:BCAR1 semapv:UnspecifiedMatching -OMIM:602941 BCAR1 skos:exactMatch ncbigene:9564 semapv:UnspecifiedMatching -OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:3501 semapv:UnspecifiedMatching -OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:EVI5 semapv:UnspecifiedMatching -OMIM:602942 EVI5 skos:exactMatch ncbigene:7813 semapv:UnspecifiedMatching -OMIM:602943 RORC skos:exactMatch UMLS:C1419603 semapv:UnspecifiedMatching -OMIM:602943 RORC skos:exactMatch UMLS:C4225266 semapv:UnspecifiedMatching -OMIM:602943 RORC skos:exactMatch hgnc.symbol:10260 semapv:UnspecifiedMatching -OMIM:602943 RORC skos:exactMatch hgnc.symbol:RORC semapv:UnspecifiedMatching -OMIM:602943 RORC skos:exactMatch ncbigene:6097 semapv:UnspecifiedMatching -OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:3120 semapv:UnspecifiedMatching -OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:E2F6 semapv:UnspecifiedMatching -OMIM:602944 E2F6 skos:exactMatch ncbigene:1876 semapv:UnspecifiedMatching -OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:19422 semapv:UnspecifiedMatching -OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:TADA3 semapv:UnspecifiedMatching -OMIM:602945 TADA3 skos:exactMatch ncbigene:10474 semapv:UnspecifiedMatching -OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:17305 semapv:UnspecifiedMatching -OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:TAF6L semapv:UnspecifiedMatching -OMIM:602946 TAF6L skos:exactMatch ncbigene:10629 semapv:UnspecifiedMatching -OMIM:602947 SUPT3H skos:exactMatch UMLS:C0812266 semapv:UnspecifiedMatching -OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:11466 semapv:UnspecifiedMatching -OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:SUPT3H semapv:UnspecifiedMatching -OMIM:602947 SUPT3H skos:exactMatch ncbigene:8464 semapv:UnspecifiedMatching -OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:9822 semapv:UnspecifiedMatching -OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:RAD51B semapv:UnspecifiedMatching -OMIM:602948 RAD51B skos:exactMatch ncbigene:5890 semapv:UnspecifiedMatching -OMIM:602949 SAP18 skos:exactMatch hgnc.symbol:10530 semapv:UnspecifiedMatching -OMIM:602949 SAP18 skos:exactMatch hgnc.symbol:SAP18 semapv:UnspecifiedMatching -OMIM:602949 SAP18 skos:exactMatch ncbigene:10284 semapv:UnspecifiedMatching -OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:5187 semapv:UnspecifiedMatching -OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:PRMT1 semapv:UnspecifiedMatching -OMIM:602950 PRMT1 skos:exactMatch ncbigene:3276 semapv:UnspecifiedMatching -OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:12863 semapv:UnspecifiedMatching -OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:ZFP37 semapv:UnspecifiedMatching -OMIM:602951 ZFP37 skos:exactMatch ncbigene:7539 semapv:UnspecifiedMatching -OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:12766 semapv:UnspecifiedMatching -OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:NSD2 semapv:UnspecifiedMatching -OMIM:602952 NSD2 skos:exactMatch ncbigene:7468 semapv:UnspecifiedMatching -OMIM:602953 HEY1 skos:exactMatch UMLS:C1415524 semapv:UnspecifiedMatching -OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:4880 semapv:UnspecifiedMatching -OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:HEY1 semapv:UnspecifiedMatching -OMIM:602953 HEY1 skos:exactMatch ncbigene:23462 semapv:UnspecifiedMatching -OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:9823 semapv:UnspecifiedMatching -OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:RAD51D semapv:UnspecifiedMatching -OMIM:602954 RAD51D skos:exactMatch ncbigene:5892 semapv:UnspecifiedMatching -OMIM:602955 TAF6 skos:exactMatch hgnc.symbol:11540 semapv:UnspecifiedMatching -OMIM:602955 TAF6 skos:exactMatch hgnc.symbol:TAF6 semapv:UnspecifiedMatching -OMIM:602955 TAF6 skos:exactMatch ncbigene:6878 semapv:UnspecifiedMatching -OMIM:602956 FANCG skos:exactMatch hgnc.symbol:3588 semapv:UnspecifiedMatching -OMIM:602956 FANCG skos:exactMatch hgnc.symbol:FANCG semapv:UnspecifiedMatching -OMIM:602956 FANCG skos:exactMatch ncbigene:2189 semapv:UnspecifiedMatching -OMIM:602957 CCL22 skos:exactMatch hgnc.symbol:10621 semapv:UnspecifiedMatching -OMIM:602957 CCL22 skos:exactMatch hgnc.symbol:CCL22 semapv:UnspecifiedMatching -OMIM:602957 CCL22 skos:exactMatch ncbigene:6367 semapv:UnspecifiedMatching -OMIM:602958 SGK1 skos:exactMatch hgnc.symbol:10810 semapv:UnspecifiedMatching -OMIM:602958 SGK1 skos:exactMatch hgnc.symbol:SGK1 semapv:UnspecifiedMatching -OMIM:602958 SGK1 skos:exactMatch ncbigene:6446 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch UMLS:C1414273 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:3192 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:EEF1A2 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch ncbigene:1917 semapv:UnspecifiedMatching -OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:12474 semapv:UnspecifiedMatching -OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:UBE2D1 semapv:UnspecifiedMatching -OMIM:602961 UBE2D1 skos:exactMatch ncbigene:7321 semapv:UnspecifiedMatching -OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:12475 semapv:UnspecifiedMatching -OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:UBE2D2 semapv:UnspecifiedMatching -OMIM:602962 UBE2D2 skos:exactMatch ncbigene:7322 semapv:UnspecifiedMatching -OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:12476 semapv:UnspecifiedMatching -OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:UBE2D3 semapv:UnspecifiedMatching -OMIM:602963 UBE2D3 skos:exactMatch ncbigene:7323 semapv:UnspecifiedMatching -OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:12380 semapv:UnspecifiedMatching -OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:TSNAX semapv:UnspecifiedMatching -OMIM:602964 TSNAX skos:exactMatch ncbigene:7257 semapv:UnspecifiedMatching -OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:3562 semapv:UnspecifiedMatching -OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:FABP7 semapv:UnspecifiedMatching -OMIM:602965 FABP7 skos:exactMatch ncbigene:2173 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching -OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:13009 semapv:UnspecifiedMatching -OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:ZNF217 semapv:UnspecifiedMatching -OMIM:602967 ZNF217 skos:exactMatch ncbigene:7764 semapv:UnspecifiedMatching -OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:974 semapv:UnspecifiedMatching -OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:BCAS1 semapv:UnspecifiedMatching -OMIM:602968 BCAS1 skos:exactMatch ncbigene:8537 semapv:UnspecifiedMatching -OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:3474 semapv:UnspecifiedMatching -OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:ESRRG semapv:UnspecifiedMatching -OMIM:602969 ESRRG skos:exactMatch ncbigene:2104 semapv:UnspecifiedMatching -OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:6397 semapv:UnspecifiedMatching -OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:KPNA4 semapv:UnspecifiedMatching -OMIM:602970 KPNA4 skos:exactMatch ncbigene:3840 semapv:UnspecifiedMatching -OMIM:602971 TBCC skos:exactMatch hgnc.symbol:11580 semapv:UnspecifiedMatching -OMIM:602971 TBCC skos:exactMatch hgnc.symbol:TBCC semapv:UnspecifiedMatching -OMIM:602971 TBCC skos:exactMatch ncbigene:6903 semapv:UnspecifiedMatching -OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:8793 semapv:UnspecifiedMatching -OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:PDE8A semapv:UnspecifiedMatching -OMIM:602972 PDE8A skos:exactMatch ncbigene:5151 semapv:UnspecifiedMatching -OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:8795 semapv:UnspecifiedMatching -OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:PDE9A semapv:UnspecifiedMatching -OMIM:602973 PDE9A skos:exactMatch ncbigene:5152 semapv:UnspecifiedMatching -OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:640 semapv:UnspecifiedMatching -OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:AQP7 semapv:UnspecifiedMatching -OMIM:602974 AQP7 skos:exactMatch ncbigene:364 semapv:UnspecifiedMatching -OMIM:602976 MLX skos:exactMatch hgnc.symbol:11645 semapv:UnspecifiedMatching -OMIM:602976 MLX skos:exactMatch hgnc.symbol:MLX semapv:UnspecifiedMatching -OMIM:602976 MLX skos:exactMatch ncbigene:6945 semapv:UnspecifiedMatching -OMIM:602977 GP2 skos:exactMatch hgnc.symbol:4441 semapv:UnspecifiedMatching -OMIM:602977 GP2 skos:exactMatch hgnc.symbol:GP2 semapv:UnspecifiedMatching -OMIM:602977 GP2 skos:exactMatch ncbigene:2813 semapv:UnspecifiedMatching -OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:3182 semapv:UnspecifiedMatching -OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:PHC1 semapv:UnspecifiedMatching -OMIM:602978 PHC1 skos:exactMatch ncbigene:1911 semapv:UnspecifiedMatching -OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:3183 semapv:UnspecifiedMatching -OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:PHC2 semapv:UnspecifiedMatching -OMIM:602979 PHC2 skos:exactMatch ncbigene:1912 semapv:UnspecifiedMatching -OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:11306 semapv:UnspecifiedMatching -OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:SRPK2 semapv:UnspecifiedMatching -OMIM:602980 SRPK2 skos:exactMatch ncbigene:6733 semapv:UnspecifiedMatching -OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:303 semapv:UnspecifiedMatching -OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:AEBP1 semapv:UnspecifiedMatching -OMIM:602981 AEBP1 skos:exactMatch ncbigene:165 semapv:UnspecifiedMatching -OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:6290 semapv:UnspecifiedMatching -OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:KCNN1 semapv:UnspecifiedMatching -OMIM:602982 KCNN1 skos:exactMatch ncbigene:3780 semapv:UnspecifiedMatching -OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:6292 semapv:UnspecifiedMatching -OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:KCNN3 semapv:UnspecifiedMatching -OMIM:602983 KCNN3 skos:exactMatch ncbigene:3782 semapv:UnspecifiedMatching -OMIM:602984 MED6 skos:exactMatch hgnc.symbol:19970 semapv:UnspecifiedMatching -OMIM:602984 MED6 skos:exactMatch hgnc.symbol:MED6 semapv:UnspecifiedMatching -OMIM:602984 MED6 skos:exactMatch ncbigene:10001 semapv:UnspecifiedMatching -OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:7708 semapv:UnspecifiedMatching -OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:NDUFS2 semapv:UnspecifiedMatching -OMIM:602985 NDUFS2 skos:exactMatch ncbigene:4720 semapv:UnspecifiedMatching -OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:3030 semapv:UnspecifiedMatching -OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:DRG2 semapv:UnspecifiedMatching -OMIM:602986 DRG2 skos:exactMatch ncbigene:1819 semapv:UnspecifiedMatching -OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:8776 semapv:UnspecifiedMatching -OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:PDE1C semapv:UnspecifiedMatching -OMIM:602987 PDE1C skos:exactMatch ncbigene:5137 semapv:UnspecifiedMatching -OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:8659 semapv:UnspecifiedMatching -OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:PCDH7 semapv:UnspecifiedMatching -OMIM:602988 PCDH7 skos:exactMatch ncbigene:5099 semapv:UnspecifiedMatching -OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:2069 semapv:UnspecifiedMatching -OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:CLK2 semapv:UnspecifiedMatching -OMIM:602989 CLK2 skos:exactMatch ncbigene:1196 semapv:UnspecifiedMatching -OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:2071 semapv:UnspecifiedMatching -OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:CLK3 semapv:UnspecifiedMatching -OMIM:602990 CLK3 skos:exactMatch ncbigene:1198 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch UMLS:C0342282 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch UMLS:C1417753 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch UMLS:C1861305 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch UMLS:C1866656 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch UMLS:C3714899 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch hgnc.symbol:7866 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch hgnc.symbol:NOG semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch ncbigene:9241 semapv:UnspecifiedMatching -OMIM:602992 LAIR1 skos:exactMatch hgnc.symbol:6477 semapv:UnspecifiedMatching -OMIM:602992 LAIR1 skos:exactMatch hgnc.symbol:LAIR1 semapv:UnspecifiedMatching -OMIM:602992 LAIR1 skos:exactMatch ncbigene:3903 semapv:UnspecifiedMatching -OMIM:602993 LAIR2 skos:exactMatch hgnc.symbol:6478 semapv:UnspecifiedMatching -OMIM:602993 LAIR2 skos:exactMatch hgnc.symbol:LAIR2 semapv:UnspecifiedMatching -OMIM:602993 LAIR2 skos:exactMatch ncbigene:3904 semapv:UnspecifiedMatching -OMIM:602995 UBE2V1 skos:exactMatch hgnc.symbol:12494 semapv:UnspecifiedMatching -OMIM:602995 UBE2V1 skos:exactMatch hgnc.symbol:UBE2V1 semapv:UnspecifiedMatching -OMIM:602995 UBE2V1 skos:exactMatch ncbigene:7335 semapv:UnspecifiedMatching -OMIM:602996 IER3 skos:exactMatch hgnc.symbol:5392 semapv:UnspecifiedMatching -OMIM:602996 IER3 skos:exactMatch hgnc.symbol:IER3 semapv:UnspecifiedMatching -OMIM:602996 IER3 skos:exactMatch ncbigene:8870 semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch UMLS:C1413823 semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch hgnc.symbol:2548 semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch hgnc.symbol:CUBN semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch ncbigene:8029 semapv:UnspecifiedMatching -OMIM:602998 SNCG skos:exactMatch hgnc.symbol:11141 semapv:UnspecifiedMatching -OMIM:602998 SNCG skos:exactMatch hgnc.symbol:SNCG semapv:UnspecifiedMatching -OMIM:602998 SNCG skos:exactMatch ncbigene:6623 semapv:UnspecifiedMatching -OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:9293 semapv:UnspecifiedMatching -OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:PPP1R3C semapv:UnspecifiedMatching -OMIM:602999 PPP1R3C skos:exactMatch ncbigene:5507 semapv:UnspecifiedMatching -OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:5359 semapv:UnspecifiedMatching -OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:MRPL58 semapv:UnspecifiedMatching -OMIM:603000 MRPL58 skos:exactMatch ncbigene:3396 semapv:UnspecifiedMatching -OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:12495 semapv:UnspecifiedMatching -OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:UBE2V2 semapv:UnspecifiedMatching -OMIM:603001 UBE2V2 skos:exactMatch ncbigene:7336 semapv:UnspecifiedMatching -OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:19998 semapv:UnspecifiedMatching -OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:TNPO2 semapv:UnspecifiedMatching -OMIM:603002 TNPO2 skos:exactMatch ncbigene:30000 semapv:UnspecifiedMatching -OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:4179 semapv:UnspecifiedMatching -OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:NIPSNAP2 semapv:UnspecifiedMatching -OMIM:603004 NIPSNAP2 skos:exactMatch ncbigene:2631 semapv:UnspecifiedMatching -OMIM:603005 PAPSS2 skos:exactMatch hgnc.symbol:8604 semapv:UnspecifiedMatching -OMIM:603005 PAPSS2 skos:exactMatch hgnc.symbol:PAPSS2 semapv:UnspecifiedMatching -OMIM:603005 PAPSS2 skos:exactMatch ncbigene:9060 semapv:UnspecifiedMatching -OMIM:603006 CDH4 skos:exactMatch hgnc.symbol:1763 semapv:UnspecifiedMatching -OMIM:603006 CDH4 skos:exactMatch hgnc.symbol:CDH4 semapv:UnspecifiedMatching -OMIM:603006 CDH4 skos:exactMatch ncbigene:1002 semapv:UnspecifiedMatching -OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:1765 semapv:UnspecifiedMatching -OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:CDH6 semapv:UnspecifiedMatching -OMIM:603007 CDH6 skos:exactMatch ncbigene:1004 semapv:UnspecifiedMatching -OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:1767 semapv:UnspecifiedMatching -OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:CDH8 semapv:UnspecifiedMatching -OMIM:603008 CDH8 skos:exactMatch ncbigene:1006 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C1414209 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch UMLS:C4551973 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch hgnc.symbol:3097 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch hgnc.symbol:DYSF semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch ncbigene:8291 semapv:UnspecifiedMatching -OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:10755 semapv:UnspecifiedMatching -OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:SERF1A semapv:UnspecifiedMatching -OMIM:603011 SERF1A skos:exactMatch ncbigene:8293 semapv:UnspecifiedMatching -OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:5233 semapv:UnspecifiedMatching -OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:HSPA1B semapv:UnspecifiedMatching -OMIM:603012 HSPA1B skos:exactMatch ncbigene:3304 semapv:UnspecifiedMatching -OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:6847 semapv:UnspecifiedMatching -OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:MAP2K7 semapv:UnspecifiedMatching -OMIM:603014 MAP2K7 skos:exactMatch ncbigene:5609 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch UMLS:C1336677 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch UMLS:C5193193 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch UMLS:C5193194 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch UMLS:C5193229 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:12347 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:TRRAP semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch ncbigene:8295 semapv:UnspecifiedMatching -OMIM:603016 CDH19 skos:exactMatch hgnc.symbol:1758 semapv:UnspecifiedMatching -OMIM:603016 CDH19 skos:exactMatch hgnc.symbol:CDH19 semapv:UnspecifiedMatching -OMIM:603016 CDH19 skos:exactMatch ncbigene:28513 semapv:UnspecifiedMatching -OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:1756 semapv:UnspecifiedMatching -OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:CDH17 semapv:UnspecifiedMatching -OMIM:603017 CDH17 skos:exactMatch ncbigene:1015 semapv:UnspecifiedMatching -OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:917 semapv:UnspecifiedMatching -OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:B3GALT2 semapv:UnspecifiedMatching -OMIM:603018 B3GALT2 skos:exactMatch ncbigene:8707 semapv:UnspecifiedMatching -OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:1757 semapv:UnspecifiedMatching -OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:CDH18 semapv:UnspecifiedMatching -OMIM:603019 CDH18 skos:exactMatch ncbigene:1016 semapv:UnspecifiedMatching -OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:314 semapv:UnspecifiedMatching -OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:AFG3L1P semapv:UnspecifiedMatching -OMIM:603020 AFG3L1P skos:exactMatch ncbigene:172 semapv:UnspecifiedMatching -OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:10380 semapv:UnspecifiedMatching -OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:MRPS12 semapv:UnspecifiedMatching -OMIM:603021 MRPS12 skos:exactMatch ncbigene:6183 semapv:UnspecifiedMatching -OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:3121 semapv:UnspecifiedMatching -OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:E4F1 semapv:UnspecifiedMatching -OMIM:603022 E4F1 skos:exactMatch ncbigene:1877 semapv:UnspecifiedMatching -OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:13176 semapv:UnspecifiedMatching -OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:IKZF1 semapv:UnspecifiedMatching -OMIM:603023 IKZF1 skos:exactMatch ncbigene:10320 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch UMLS:C1420251 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch UMLS:C3553247 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch UMLS:C4310916 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:11110 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:ARID1A semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch ncbigene:8289 semapv:UnspecifiedMatching -OMIM:603025 PICALM skos:exactMatch hgnc.symbol:15514 semapv:UnspecifiedMatching -OMIM:603025 PICALM skos:exactMatch hgnc.symbol:PICALM semapv:UnspecifiedMatching -OMIM:603025 PICALM skos:exactMatch ncbigene:8301 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch UMLS:C1418629 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:9045 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:PLAG1 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch ncbigene:5324 semapv:UnspecifiedMatching -OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:3607 semapv:UnspecifiedMatching -OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:FBP2 semapv:UnspecifiedMatching -OMIM:603027 FBP2 skos:exactMatch ncbigene:8789 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch UMLS:C1336634 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch UMLS:C1858438 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch UMLS:C1968668 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:11848 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:TLR2 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch ncbigene:7097 semapv:UnspecifiedMatching -OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:11849 semapv:UnspecifiedMatching -OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:TLR3 semapv:UnspecifiedMatching -OMIM:603029 TLR3 skos:exactMatch ncbigene:7098 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch UMLS:C1336636 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch UMLS:C4310915 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:11850 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:TLR4 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch ncbigene:7099 semapv:UnspecifiedMatching -OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:11851 semapv:UnspecifiedMatching -OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:TLR5 semapv:UnspecifiedMatching -OMIM:603031 TLR5 skos:exactMatch ncbigene:7100 semapv:UnspecifiedMatching -OMIM:603032 SNN skos:exactMatch hgnc.symbol:11149 semapv:UnspecifiedMatching -OMIM:603032 SNN skos:exactMatch hgnc.symbol:SNN semapv:UnspecifiedMatching -OMIM:603032 SNN skos:exactMatch ncbigene:8303 semapv:UnspecifiedMatching -OMIM:603033 COLQ skos:exactMatch hgnc.symbol:2226 semapv:UnspecifiedMatching -OMIM:603033 COLQ skos:exactMatch hgnc.symbol:COLQ semapv:UnspecifiedMatching -OMIM:603033 COLQ skos:exactMatch ncbigene:8292 semapv:UnspecifiedMatching -OMIM:603035 IL16 skos:exactMatch hgnc.symbol:5980 semapv:UnspecifiedMatching -OMIM:603035 IL16 skos:exactMatch hgnc.symbol:IL16 semapv:UnspecifiedMatching -OMIM:603035 IL16 skos:exactMatch ncbigene:3603 semapv:UnspecifiedMatching -OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:6552 semapv:UnspecifiedMatching -OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:LEFTY1 semapv:UnspecifiedMatching -OMIM:603037 LEFTY1 skos:exactMatch ncbigene:10637 semapv:UnspecifiedMatching -OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:11214 semapv:UnspecifiedMatching -OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:SPAG4 semapv:UnspecifiedMatching -OMIM:603038 SPAG4 skos:exactMatch ncbigene:6676 semapv:UnspecifiedMatching -OMIM:603039 MNT skos:exactMatch hgnc.symbol:7188 semapv:UnspecifiedMatching -OMIM:603039 MNT skos:exactMatch hgnc.symbol:MNT semapv:UnspecifiedMatching -OMIM:603039 MNT skos:exactMatch ncbigene:4335 semapv:UnspecifiedMatching -OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching -OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching -OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C4551995 semapv:UnspecifiedMatching -OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:11125 semapv:UnspecifiedMatching -OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:SUMO2 semapv:UnspecifiedMatching -OMIM:603042 SUMO2 skos:exactMatch ncbigene:6613 semapv:UnspecifiedMatching -OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:8017 semapv:UnspecifiedMatching -OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:NSMAF semapv:UnspecifiedMatching -OMIM:603043 NSMAF skos:exactMatch ncbigene:8439 semapv:UnspecifiedMatching -OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:9046 semapv:UnspecifiedMatching -OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:PLAGL1 semapv:UnspecifiedMatching -OMIM:603044 PLAGL1 skos:exactMatch ncbigene:5325 semapv:UnspecifiedMatching -OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:17023 semapv:UnspecifiedMatching -OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:RNF139 semapv:UnspecifiedMatching -OMIM:603046 RNF139 skos:exactMatch ncbigene:11236 semapv:UnspecifiedMatching -OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:4446 semapv:UnspecifiedMatching -OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:GPAA1 semapv:UnspecifiedMatching -OMIM:603048 GPAA1 skos:exactMatch ncbigene:8733 semapv:UnspecifiedMatching -OMIM:603049 TXNL1 skos:exactMatch hgnc.symbol:12436 semapv:UnspecifiedMatching -OMIM:603049 TXNL1 skos:exactMatch hgnc.symbol:TXNL1 semapv:UnspecifiedMatching -OMIM:603049 TXNL1 skos:exactMatch ncbigene:9352 semapv:UnspecifiedMatching -OMIM:603050 ABI1 skos:exactMatch hgnc.symbol:11320 semapv:UnspecifiedMatching -OMIM:603050 ABI1 skos:exactMatch hgnc.symbol:ABI1 semapv:UnspecifiedMatching -OMIM:603050 ABI1 skos:exactMatch ncbigene:10006 semapv:UnspecifiedMatching -OMIM:603051 AGPS skos:exactMatch hgnc.symbol:327 semapv:UnspecifiedMatching -OMIM:603051 AGPS skos:exactMatch hgnc.symbol:AGPS semapv:UnspecifiedMatching -OMIM:603051 AGPS skos:exactMatch ncbigene:8540 semapv:UnspecifiedMatching -OMIM:603052 CPSF4 skos:exactMatch hgnc.symbol:2327 semapv:UnspecifiedMatching -OMIM:603052 CPSF4 skos:exactMatch hgnc.symbol:CPSF4 semapv:UnspecifiedMatching -OMIM:603052 CPSF4 skos:exactMatch ncbigene:10898 semapv:UnspecifiedMatching -OMIM:603053 HAT1 skos:exactMatch hgnc.symbol:4821 semapv:UnspecifiedMatching -OMIM:603053 HAT1 skos:exactMatch hgnc.symbol:HAT1 semapv:UnspecifiedMatching -OMIM:603053 HAT1 skos:exactMatch ncbigene:8520 semapv:UnspecifiedMatching -OMIM:603054 GREM1 skos:exactMatch hgnc.symbol:2001 semapv:UnspecifiedMatching -OMIM:603054 GREM1 skos:exactMatch hgnc.symbol:GREM1 semapv:UnspecifiedMatching -OMIM:603054 GREM1 skos:exactMatch ncbigene:26585 semapv:UnspecifiedMatching -OMIM:603055 SKIIP skos:exactMatch hgnc.symbol:16696 semapv:UnspecifiedMatching -OMIM:603055 SKIIP skos:exactMatch hgnc.symbol:SNW1 semapv:UnspecifiedMatching -OMIM:603055 SKIIP skos:exactMatch ncbigene:22938 semapv:UnspecifiedMatching -OMIM:603056 ORC4 skos:exactMatch hgnc.symbol:8490 semapv:UnspecifiedMatching -OMIM:603056 ORC4 skos:exactMatch hgnc.symbol:ORC4 semapv:UnspecifiedMatching -OMIM:603056 ORC4 skos:exactMatch ncbigene:5000 semapv:UnspecifiedMatching -OMIM:603057 DCHS1 skos:exactMatch hgnc.symbol:13681 semapv:UnspecifiedMatching -OMIM:603057 DCHS1 skos:exactMatch hgnc.symbol:DCHS1 semapv:UnspecifiedMatching -OMIM:603057 DCHS1 skos:exactMatch ncbigene:8642 semapv:UnspecifiedMatching -OMIM:603058 PCDHGB4 skos:exactMatch hgnc.symbol:8711 semapv:UnspecifiedMatching -OMIM:603058 PCDHGB4 skos:exactMatch hgnc.symbol:PCDHGB4 semapv:UnspecifiedMatching -OMIM:603058 PCDHGB4 skos:exactMatch ncbigene:8641 semapv:UnspecifiedMatching -OMIM:603059 PCDHGA12 skos:exactMatch hgnc.symbol:8699 semapv:UnspecifiedMatching -OMIM:603059 PCDHGA12 skos:exactMatch hgnc.symbol:PCDHGA12 semapv:UnspecifiedMatching -OMIM:603059 PCDHGA12 skos:exactMatch ncbigene:26025 semapv:UnspecifiedMatching -OMIM:603060 KIF1C skos:exactMatch hgnc.symbol:6317 semapv:UnspecifiedMatching -OMIM:603060 KIF1C skos:exactMatch hgnc.symbol:KIF1C semapv:UnspecifiedMatching -OMIM:603060 KIF1C skos:exactMatch ncbigene:10749 semapv:UnspecifiedMatching -OMIM:603061 ENSA skos:exactMatch hgnc.symbol:3360 semapv:UnspecifiedMatching -OMIM:603061 ENSA skos:exactMatch hgnc.symbol:ENSA semapv:UnspecifiedMatching -OMIM:603061 ENSA skos:exactMatch ncbigene:2029 semapv:UnspecifiedMatching -OMIM:603062 TGOLN2 skos:exactMatch hgnc.symbol:15450 semapv:UnspecifiedMatching -OMIM:603062 TGOLN2 skos:exactMatch hgnc.symbol:TGOLN2 semapv:UnspecifiedMatching -OMIM:603062 TGOLN2 skos:exactMatch ncbigene:10618 semapv:UnspecifiedMatching -OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:1027 semapv:UnspecifiedMatching -OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:BDH1 semapv:UnspecifiedMatching -OMIM:603063 BDH1 skos:exactMatch ncbigene:622 semapv:UnspecifiedMatching -OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:12545 semapv:UnspecifiedMatching -OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:UGT2B11 semapv:UnspecifiedMatching -OMIM:603064 UGT2B11 skos:exactMatch ncbigene:10720 semapv:UnspecifiedMatching -OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:7968 semapv:UnspecifiedMatching -OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:NR1I2 semapv:UnspecifiedMatching -OMIM:603065 NR1I2 skos:exactMatch ncbigene:8856 semapv:UnspecifiedMatching -OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:9083 semapv:UnspecifiedMatching -OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:PLOD3 semapv:UnspecifiedMatching -OMIM:603066 PLOD3 skos:exactMatch ncbigene:8985 semapv:UnspecifiedMatching -OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:3068 semapv:UnspecifiedMatching -OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:DUSP2 semapv:UnspecifiedMatching -OMIM:603068 DUSP2 skos:exactMatch ncbigene:1844 semapv:UnspecifiedMatching -OMIM:603069 DUSP5 skos:exactMatch hgnc.symbol:3071 semapv:UnspecifiedMatching -OMIM:603069 DUSP5 skos:exactMatch hgnc.symbol:DUSP5 semapv:UnspecifiedMatching -OMIM:603069 DUSP5 skos:exactMatch ncbigene:1847 semapv:UnspecifiedMatching -OMIM:603070 RAD51AP1 skos:exactMatch hgnc.symbol:16956 semapv:UnspecifiedMatching -OMIM:603070 RAD51AP1 skos:exactMatch hgnc.symbol:RAD51AP1 semapv:UnspecifiedMatching -OMIM:603070 RAD51AP1 skos:exactMatch ncbigene:10635 semapv:UnspecifiedMatching -OMIM:603071 GPR17 skos:exactMatch hgnc.symbol:4471 semapv:UnspecifiedMatching -OMIM:603071 GPR17 skos:exactMatch hgnc.symbol:GPR17 semapv:UnspecifiedMatching -OMIM:603071 GPR17 skos:exactMatch ncbigene:2840 semapv:UnspecifiedMatching -OMIM:603072 AURKA skos:exactMatch hgnc.symbol:11393 semapv:UnspecifiedMatching -OMIM:603072 AURKA skos:exactMatch hgnc.symbol:AURKA semapv:UnspecifiedMatching -OMIM:603072 AURKA skos:exactMatch ncbigene:6790 semapv:UnspecifiedMatching -OMIM:603073 ZIC2 skos:exactMatch hgnc.symbol:12873 semapv:UnspecifiedMatching -OMIM:603073 ZIC2 skos:exactMatch hgnc.symbol:ZIC2 semapv:UnspecifiedMatching -OMIM:603073 ZIC2 skos:exactMatch ncbigene:7546 semapv:UnspecifiedMatching -OMIM:603074 PAFAH1B3 skos:exactMatch hgnc.symbol:8576 semapv:UnspecifiedMatching -OMIM:603074 PAFAH1B3 skos:exactMatch hgnc.symbol:PAFAH1B3 semapv:UnspecifiedMatching -OMIM:603074 PAFAH1B3 skos:exactMatch ncbigene:5050 semapv:UnspecifiedMatching -OMIM:603076 ABCG1 skos:exactMatch hgnc.symbol:73 semapv:UnspecifiedMatching -OMIM:603076 ABCG1 skos:exactMatch hgnc.symbol:ABCG1 semapv:UnspecifiedMatching -OMIM:603076 ABCG1 skos:exactMatch ncbigene:9619 semapv:UnspecifiedMatching -OMIM:603078 CHEK1 skos:exactMatch hgnc.symbol:1925 semapv:UnspecifiedMatching -OMIM:603078 CHEK1 skos:exactMatch hgnc.symbol:CHEK1 semapv:UnspecifiedMatching -OMIM:603078 CHEK1 skos:exactMatch ncbigene:1111 semapv:UnspecifiedMatching -OMIM:603079 CBX4 skos:exactMatch hgnc.symbol:1554 semapv:UnspecifiedMatching -OMIM:603079 CBX4 skos:exactMatch hgnc.symbol:CBX4 semapv:UnspecifiedMatching -OMIM:603079 CBX4 skos:exactMatch ncbigene:8535 semapv:UnspecifiedMatching -OMIM:603080 SLC6A12 skos:exactMatch hgnc.symbol:11045 semapv:UnspecifiedMatching -OMIM:603080 SLC6A12 skos:exactMatch hgnc.symbol:SLC6A12 semapv:UnspecifiedMatching -OMIM:603080 SLC6A12 skos:exactMatch ncbigene:6539 semapv:UnspecifiedMatching -OMIM:603081 ADPRH skos:exactMatch hgnc.symbol:269 semapv:UnspecifiedMatching -OMIM:603081 ADPRH skos:exactMatch hgnc.symbol:ADPRH semapv:UnspecifiedMatching -OMIM:603081 ADPRH skos:exactMatch ncbigene:141 semapv:UnspecifiedMatching -OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:5045 semapv:UnspecifiedMatching -OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:HNRNPL semapv:UnspecifiedMatching -OMIM:603083 HNRNPL skos:exactMatch ncbigene:3191 semapv:UnspecifiedMatching -OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:2678 semapv:UnspecifiedMatching -OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:DARS1 semapv:UnspecifiedMatching -OMIM:603084 DARS1 skos:exactMatch ncbigene:1615 semapv:UnspecifiedMatching -OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:11016 semapv:UnspecifiedMatching -OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:SLC31A1 semapv:UnspecifiedMatching -OMIM:603085 SLC31A1 skos:exactMatch ncbigene:1317 semapv:UnspecifiedMatching -OMIM:603086 ART3 skos:exactMatch hgnc.symbol:725 semapv:UnspecifiedMatching -OMIM:603086 ART3 skos:exactMatch hgnc.symbol:ART3 semapv:UnspecifiedMatching -OMIM:603086 ART3 skos:exactMatch ncbigene:419 semapv:UnspecifiedMatching -OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:11017 semapv:UnspecifiedMatching -OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:SLC31A2 semapv:UnspecifiedMatching -OMIM:603088 SLC31A2 skos:exactMatch ncbigene:1318 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch UMLS:C1332380 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch UMLS:C3280492 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:950 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:BAP1 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch ncbigene:8314 semapv:UnspecifiedMatching -OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:12515 semapv:UnspecifiedMatching -OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:UCHL3 semapv:UnspecifiedMatching -OMIM:603090 UCHL3 skos:exactMatch ncbigene:7347 semapv:UnspecifiedMatching -OMIM:603091 USP12 skos:exactMatch hgnc.symbol:20485 semapv:UnspecifiedMatching -OMIM:603091 USP12 skos:exactMatch hgnc.symbol:USP12 semapv:UnspecifiedMatching -OMIM:603091 USP12 skos:exactMatch ncbigene:219333 semapv:UnspecifiedMatching -OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:3066 semapv:UnspecifiedMatching -OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:DUSP11 semapv:UnspecifiedMatching -OMIM:603092 DUSP11 skos:exactMatch ncbigene:8446 semapv:UnspecifiedMatching -OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:916 semapv:UnspecifiedMatching -OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:B3GALT1 semapv:UnspecifiedMatching -OMIM:603093 B3GALT1 skos:exactMatch ncbigene:8708 semapv:UnspecifiedMatching -OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:918 semapv:UnspecifiedMatching -OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:B3GALNT1 semapv:UnspecifiedMatching -OMIM:603094 B3GALNT1 skos:exactMatch ncbigene:8706 semapv:UnspecifiedMatching -OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:919 semapv:UnspecifiedMatching -OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:B3GALT4 semapv:UnspecifiedMatching -OMIM:603095 B3GALT4 skos:exactMatch ncbigene:8705 semapv:UnspecifiedMatching -OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:856 semapv:UnspecifiedMatching -OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:ATP6V1C1 semapv:UnspecifiedMatching -OMIM:603097 ATP6V1C1 skos:exactMatch ncbigene:528 semapv:UnspecifiedMatching -OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:324 semapv:UnspecifiedMatching -OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:AGPAT1 semapv:UnspecifiedMatching -OMIM:603099 AGPAT1 skos:exactMatch ncbigene:10554 semapv:UnspecifiedMatching -OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:325 semapv:UnspecifiedMatching -OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:AGPAT2 semapv:UnspecifiedMatching -OMIM:603100 AGPAT2 skos:exactMatch ncbigene:10555 semapv:UnspecifiedMatching -OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:2300 semapv:UnspecifiedMatching -OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:CPB2 semapv:UnspecifiedMatching -OMIM:603101 CPB2 skos:exactMatch ncbigene:1361 semapv:UnspecifiedMatching -OMIM:603102 CPD skos:exactMatch hgnc.symbol:2301 semapv:UnspecifiedMatching -OMIM:603102 CPD skos:exactMatch hgnc.symbol:CPD semapv:UnspecifiedMatching -OMIM:603102 CPD skos:exactMatch ncbigene:1362 semapv:UnspecifiedMatching -OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:2312 semapv:UnspecifiedMatching -OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:CPN1 semapv:UnspecifiedMatching -OMIM:603103 CPN1 skos:exactMatch ncbigene:1369 semapv:UnspecifiedMatching -OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:2313 semapv:UnspecifiedMatching -OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:CPN2 semapv:UnspecifiedMatching -OMIM:603104 CPN2 skos:exactMatch ncbigene:1370 semapv:UnspecifiedMatching -OMIM:603105 CPZ skos:exactMatch hgnc.symbol:2333 semapv:UnspecifiedMatching -OMIM:603105 CPZ skos:exactMatch hgnc.symbol:CPZ semapv:UnspecifiedMatching -OMIM:603105 CPZ skos:exactMatch ncbigene:8532 semapv:UnspecifiedMatching -OMIM:603106 NNAT skos:exactMatch hgnc.symbol:7860 semapv:UnspecifiedMatching -OMIM:603106 NNAT skos:exactMatch hgnc.symbol:NNAT semapv:UnspecifiedMatching -OMIM:603106 NNAT skos:exactMatch ncbigene:4826 semapv:UnspecifiedMatching -OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:11631 semapv:UnspecifiedMatching -OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:TCF20 semapv:UnspecifiedMatching -OMIM:603107 TCF20 skos:exactMatch ncbigene:6942 semapv:UnspecifiedMatching -OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:6890 semapv:UnspecifiedMatching -OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:MAPRE1 semapv:UnspecifiedMatching -OMIM:603108 MAPRE1 skos:exactMatch ncbigene:22919 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch UMLS:C0919432 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch UMLS:C3151087 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:6769 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:SMAD3 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch ncbigene:4088 semapv:UnspecifiedMatching -OMIM:603110 SMAD5 skos:exactMatch UMLS:C1416963 semapv:UnspecifiedMatching -OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:6771 semapv:UnspecifiedMatching -OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:SMAD5 semapv:UnspecifiedMatching -OMIM:603110 SMAD5 skos:exactMatch ncbigene:4090 semapv:UnspecifiedMatching -OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:11109 semapv:UnspecifiedMatching -OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:SMARCE1 semapv:UnspecifiedMatching -OMIM:603111 SMARCE1 skos:exactMatch ncbigene:6605 semapv:UnspecifiedMatching -OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:10489 semapv:UnspecifiedMatching -OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:S100A12 semapv:UnspecifiedMatching -OMIM:603112 S100A12 skos:exactMatch ncbigene:6283 semapv:UnspecifiedMatching -OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:9303 semapv:UnspecifiedMatching -OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:PPP2R1B semapv:UnspecifiedMatching -OMIM:603113 PPP2R1B skos:exactMatch ncbigene:5519 semapv:UnspecifiedMatching -OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:10488 semapv:UnspecifiedMatching -OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:S100A11 semapv:UnspecifiedMatching -OMIM:603114 S100A11 skos:exactMatch ncbigene:6282 semapv:UnspecifiedMatching -OMIM:603115 DHX9 skos:exactMatch UMLS:C1413966 semapv:UnspecifiedMatching -OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:2750 semapv:UnspecifiedMatching -OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:DHX9 semapv:UnspecifiedMatching -OMIM:603115 DHX9 skos:exactMatch ncbigene:1660 semapv:UnspecifiedMatching -OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:1755 semapv:UnspecifiedMatching -OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:CDH16 semapv:UnspecifiedMatching -OMIM:603118 CDH16 skos:exactMatch ncbigene:1014 semapv:UnspecifiedMatching -OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:9756 semapv:UnspecifiedMatching -OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:QSOX1 semapv:UnspecifiedMatching -OMIM:603120 QSOX1 skos:exactMatch ncbigene:5768 semapv:UnspecifiedMatching -OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:2988 semapv:UnspecifiedMatching -OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:DOCK2 semapv:UnspecifiedMatching -OMIM:603122 DOCK2 skos:exactMatch ncbigene:1794 semapv:UnspecifiedMatching -OMIM:603123 DOCK3 skos:exactMatch UMLS:C1414129 semapv:UnspecifiedMatching -OMIM:603123 DOCK3 skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching -OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:2989 semapv:UnspecifiedMatching -OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:DOCK3 semapv:UnspecifiedMatching -OMIM:603123 DOCK3 skos:exactMatch ncbigene:1795 semapv:UnspecifiedMatching -OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:12483 semapv:UnspecifiedMatching -OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:UBE2G2 semapv:UnspecifiedMatching -OMIM:603124 UBE2G2 skos:exactMatch ncbigene:7327 semapv:UnspecifiedMatching -OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:12020 semapv:UnspecifiedMatching -OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:TPST1 semapv:UnspecifiedMatching -OMIM:603125 TPST1 skos:exactMatch ncbigene:8460 semapv:UnspecifiedMatching -OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:12021 semapv:UnspecifiedMatching -OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:TPST2 semapv:UnspecifiedMatching -OMIM:603126 TPST2 skos:exactMatch ncbigene:8459 semapv:UnspecifiedMatching -OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:4169 semapv:UnspecifiedMatching -OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:GAS7 semapv:UnspecifiedMatching -OMIM:603127 GAS7 skos:exactMatch ncbigene:8522 semapv:UnspecifiedMatching -OMIM:603128 SIM1 skos:exactMatch UMLS:C1420067 semapv:UnspecifiedMatching -OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:10882 semapv:UnspecifiedMatching -OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:SIM1 semapv:UnspecifiedMatching -OMIM:603128 SIM1 skos:exactMatch ncbigene:6492 semapv:UnspecifiedMatching -OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:6644 semapv:UnspecifiedMatching -OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:LMO4 semapv:UnspecifiedMatching -OMIM:603129 LMO4 skos:exactMatch ncbigene:8543 semapv:UnspecifiedMatching -OMIM:603130 ATRN skos:exactMatch hgnc.symbol:885 semapv:UnspecifiedMatching -OMIM:603130 ATRN skos:exactMatch hgnc.symbol:ATRN semapv:UnspecifiedMatching -OMIM:603130 ATRN skos:exactMatch ncbigene:8455 semapv:UnspecifiedMatching -OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:9119 semapv:UnspecifiedMatching -OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:PMPCB semapv:UnspecifiedMatching -OMIM:603131 PMPCB skos:exactMatch ncbigene:9512 semapv:UnspecifiedMatching -OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:12980 semapv:UnspecifiedMatching -OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:ZNF189 semapv:UnspecifiedMatching -OMIM:603132 ZNF189 skos:exactMatch ncbigene:7743 semapv:UnspecifiedMatching -OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:2551 semapv:UnspecifiedMatching -OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:CUL1 semapv:UnspecifiedMatching -OMIM:603134 CUL1 skos:exactMatch ncbigene:8454 semapv:UnspecifiedMatching -OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:2552 semapv:UnspecifiedMatching -OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:CUL2 semapv:UnspecifiedMatching -OMIM:603135 CUL2 skos:exactMatch ncbigene:8453 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch UMLS:C1332811 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch UMLS:C3469606 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:2553 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:CUL3 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch ncbigene:8452 semapv:UnspecifiedMatching -OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:2554 semapv:UnspecifiedMatching -OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:CUL4A semapv:UnspecifiedMatching -OMIM:603137 CUL4A skos:exactMatch ncbigene:8451 semapv:UnspecifiedMatching -OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:9807 semapv:UnspecifiedMatching -OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:RAD17 semapv:UnspecifiedMatching -OMIM:603139 RAD17 skos:exactMatch ncbigene:5884 semapv:UnspecifiedMatching -OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:8997 semapv:UnspecifiedMatching -OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:PIP4K2A semapv:UnspecifiedMatching -OMIM:603140 PIP4K2A skos:exactMatch ncbigene:5305 semapv:UnspecifiedMatching -OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:9249 semapv:UnspecifiedMatching -OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:PPFIBP1 semapv:UnspecifiedMatching -OMIM:603141 PPFIBP1 skos:exactMatch ncbigene:8496 semapv:UnspecifiedMatching -OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:9250 semapv:UnspecifiedMatching -OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:PPFIBP2 semapv:UnspecifiedMatching -OMIM:603142 PPFIBP2 skos:exactMatch ncbigene:8495 semapv:UnspecifiedMatching -OMIM:603143 PPFIA2 skos:exactMatch UMLS:C1418786 semapv:UnspecifiedMatching -OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:9246 semapv:UnspecifiedMatching -OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:PPFIA2 semapv:UnspecifiedMatching -OMIM:603143 PPFIA2 skos:exactMatch ncbigene:8499 semapv:UnspecifiedMatching -OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:9247 semapv:UnspecifiedMatching -OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:PPFIA3 semapv:UnspecifiedMatching -OMIM:603144 PPFIA3 skos:exactMatch ncbigene:8541 semapv:UnspecifiedMatching -OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:9248 semapv:UnspecifiedMatching -OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:PPFIA4 semapv:UnspecifiedMatching -OMIM:603145 PPFIA4 skos:exactMatch ncbigene:8497 semapv:UnspecifiedMatching -OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:9567 semapv:UnspecifiedMatching -OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:PSMD9 semapv:UnspecifiedMatching -OMIM:603146 PSMD9 skos:exactMatch ncbigene:5715 semapv:UnspecifiedMatching -OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch Orphanet:79320 semapv:UnspecifiedMatching -OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching -OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:785 semapv:UnspecifiedMatching -OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:ATF3 semapv:UnspecifiedMatching -OMIM:603148 ATF3 skos:exactMatch ncbigene:467 semapv:UnspecifiedMatching -OMIM:603149 IL17A skos:exactMatch UMLS:C1825592 semapv:UnspecifiedMatching -OMIM:603149 IL17A skos:exactMatch hgnc.symbol:5981 semapv:UnspecifiedMatching -OMIM:603149 IL17A skos:exactMatch hgnc.symbol:IL17A semapv:UnspecifiedMatching -OMIM:603149 IL17A skos:exactMatch ncbigene:3605 semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch UMLS:C1412658 semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch UMLS:C4748269 semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:837 semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:ATP5F1D semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch ncbigene:513 semapv:UnspecifiedMatching -OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:1717 semapv:UnspecifiedMatching -OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:SEPTIN7 semapv:UnspecifiedMatching -OMIM:603151 SEPT7 skos:exactMatch ncbigene:989 semapv:UnspecifiedMatching -OMIM:603152 ATP5PF skos:exactMatch UMLS:C1412668 semapv:UnspecifiedMatching -OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:847 semapv:UnspecifiedMatching -OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:ATP5PF semapv:UnspecifiedMatching -OMIM:603152 ATP5PF skos:exactMatch ncbigene:522 semapv:UnspecifiedMatching -OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:9806 semapv:UnspecifiedMatching -OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:RAD1 semapv:UnspecifiedMatching -OMIM:603153 RAD1 skos:exactMatch ncbigene:5810 semapv:UnspecifiedMatching -OMIM:603154 PNN skos:exactMatch hgnc.symbol:9162 semapv:UnspecifiedMatching -OMIM:603154 PNN skos:exactMatch hgnc.symbol:PNN semapv:UnspecifiedMatching -OMIM:603154 PNN skos:exactMatch ncbigene:5411 semapv:UnspecifiedMatching -OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:9647 semapv:UnspecifiedMatching -OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:PTPN14 semapv:UnspecifiedMatching -OMIM:603155 PTPN14 skos:exactMatch ncbigene:5784 semapv:UnspecifiedMatching -OMIM:603156 BPHL skos:exactMatch hgnc.symbol:1094 semapv:UnspecifiedMatching -OMIM:603156 BPHL skos:exactMatch hgnc.symbol:BPHL semapv:UnspecifiedMatching -OMIM:603156 BPHL skos:exactMatch ncbigene:670 semapv:UnspecifiedMatching -OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:8980 semapv:UnspecifiedMatching -OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:PIK3R2 semapv:UnspecifiedMatching -OMIM:603157 PIK3R2 skos:exactMatch ncbigene:5296 semapv:UnspecifiedMatching -OMIM:603158 USP8 skos:exactMatch hgnc.symbol:12631 semapv:UnspecifiedMatching -OMIM:603158 USP8 skos:exactMatch hgnc.symbol:USP8 semapv:UnspecifiedMatching -OMIM:603158 USP8 skos:exactMatch ncbigene:9101 semapv:UnspecifiedMatching -OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:6695 semapv:UnspecifiedMatching -OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:LRP3 semapv:UnspecifiedMatching -OMIM:603159 LRP3 skos:exactMatch ncbigene:4037 semapv:UnspecifiedMatching -OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:3368 semapv:UnspecifiedMatching -OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:ENTPD6 semapv:UnspecifiedMatching -OMIM:603160 ENTPD6 skos:exactMatch ncbigene:955 semapv:UnspecifiedMatching -OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:3365 semapv:UnspecifiedMatching -OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:ENTPD3 semapv:UnspecifiedMatching -OMIM:603161 ENTPD3 skos:exactMatch ncbigene:956 semapv:UnspecifiedMatching -OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:3367 semapv:UnspecifiedMatching -OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:ENTPD5 semapv:UnspecifiedMatching -OMIM:603162 ENTPD5 skos:exactMatch ncbigene:957 semapv:UnspecifiedMatching -OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:17036 semapv:UnspecifiedMatching -OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:SCRG1 semapv:UnspecifiedMatching -OMIM:603163 SCRG1 skos:exactMatch ncbigene:11341 semapv:UnspecifiedMatching -OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:8858 semapv:UnspecifiedMatching -OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:PEX3 semapv:UnspecifiedMatching -OMIM:603164 PEX3 skos:exactMatch ncbigene:8504 semapv:UnspecifiedMatching -OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:6864 semapv:UnspecifiedMatching -OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:MAP4K2 semapv:UnspecifiedMatching -OMIM:603166 MAP4K2 skos:exactMatch ncbigene:5871 semapv:UnspecifiedMatching -OMIM:603167 BAD skos:exactMatch hgnc.symbol:936 semapv:UnspecifiedMatching -OMIM:603167 BAD skos:exactMatch hgnc.symbol:BAD semapv:UnspecifiedMatching -OMIM:603167 BAD skos:exactMatch ncbigene:572 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch UMLS:C1421350 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:12558 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:ULK1 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch ncbigene:8408 semapv:UnspecifiedMatching -OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:2547 semapv:UnspecifiedMatching -OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:CTSZ semapv:UnspecifiedMatching -OMIM:603169 CTSZ skos:exactMatch ncbigene:1522 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch UMLS:C1420681 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:11716 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:TEAD3 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch ncbigene:7005 semapv:UnspecifiedMatching -OMIM:603171 NEDD8 skos:exactMatch UMLS:C1417663 semapv:UnspecifiedMatching -OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:7732 semapv:UnspecifiedMatching -OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:NEDD8 semapv:UnspecifiedMatching -OMIM:603171 NEDD8 skos:exactMatch ncbigene:4738 semapv:UnspecifiedMatching -OMIM:603172 UBA3 skos:exactMatch hgnc.symbol:12470 semapv:UnspecifiedMatching -OMIM:603172 UBA3 skos:exactMatch hgnc.symbol:UBA3 semapv:UnspecifiedMatching -OMIM:603172 UBA3 skos:exactMatch ncbigene:9039 semapv:UnspecifiedMatching -OMIM:603173 UBE2M skos:exactMatch hgnc.symbol:12491 semapv:UnspecifiedMatching -OMIM:603173 UBE2M skos:exactMatch hgnc.symbol:UBE2M semapv:UnspecifiedMatching -OMIM:603173 UBE2M skos:exactMatch ncbigene:9040 semapv:UnspecifiedMatching -OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:12647 semapv:UnspecifiedMatching -OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:VAMP8 semapv:UnspecifiedMatching -OMIM:603177 VAMP8 skos:exactMatch ncbigene:8673 semapv:UnspecifiedMatching -OMIM:603178 ALDH6A1 skos:exactMatch UMLS:C1417216 semapv:UnspecifiedMatching -OMIM:603178 ALDH6A1 skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching -OMIM:603178 ALDH6A1 skos:exactMatch hgnc.symbol:7179 semapv:UnspecifiedMatching -OMIM:603178 ALDH6A1 skos:exactMatch hgnc.symbol:ALDH6A1 semapv:UnspecifiedMatching -OMIM:603178 ALDH6A1 skos:exactMatch ncbigene:4329 semapv:UnspecifiedMatching -OMIM:603179 CA9 skos:exactMatch hgnc.symbol:1383 semapv:UnspecifiedMatching -OMIM:603179 CA9 skos:exactMatch hgnc.symbol:CA9 semapv:UnspecifiedMatching -OMIM:603179 CA9 skos:exactMatch ncbigene:768 semapv:UnspecifiedMatching -OMIM:603180 XPOT skos:exactMatch hgnc.symbol:12826 semapv:UnspecifiedMatching -OMIM:603180 XPOT skos:exactMatch hgnc.symbol:XPOT semapv:UnspecifiedMatching -OMIM:603180 XPOT skos:exactMatch ncbigene:11260 semapv:UnspecifiedMatching -OMIM:603181 ILF2 skos:exactMatch hgnc.symbol:6037 semapv:UnspecifiedMatching -OMIM:603181 ILF2 skos:exactMatch hgnc.symbol:ILF2 semapv:UnspecifiedMatching -OMIM:603181 ILF2 skos:exactMatch ncbigene:3608 semapv:UnspecifiedMatching -OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:6038 semapv:UnspecifiedMatching -OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:ILF3 semapv:UnspecifiedMatching -OMIM:603182 ILF3 skos:exactMatch ncbigene:3609 semapv:UnspecifiedMatching -OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:10468 semapv:UnspecifiedMatching -OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:RTN2 semapv:UnspecifiedMatching -OMIM:603183 RTN2 skos:exactMatch ncbigene:6253 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch UMLS:C1413289 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:1779 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:CDK8 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch ncbigene:1024 semapv:UnspecifiedMatching -OMIM:603185 NASP skos:exactMatch hgnc.symbol:7644 semapv:UnspecifiedMatching -OMIM:603185 NASP skos:exactMatch hgnc.symbol:NASP semapv:UnspecifiedMatching -OMIM:603185 NASP skos:exactMatch ncbigene:4678 semapv:UnspecifiedMatching -OMIM:603186 DAXX skos:exactMatch hgnc.symbol:2681 semapv:UnspecifiedMatching -OMIM:603186 DAXX skos:exactMatch hgnc.symbol:DAXX semapv:UnspecifiedMatching -OMIM:603186 DAXX skos:exactMatch ncbigene:1616 semapv:UnspecifiedMatching -OMIM:603187 CETN1 skos:exactMatch UMLS:C1413350 semapv:UnspecifiedMatching -OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:1866 semapv:UnspecifiedMatching -OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:CETN1 semapv:UnspecifiedMatching -OMIM:603187 CETN1 skos:exactMatch ncbigene:1068 semapv:UnspecifiedMatching -OMIM:603189 STX5 skos:exactMatch hgnc.symbol:11440 semapv:UnspecifiedMatching -OMIM:603189 STX5 skos:exactMatch hgnc.symbol:STX5 semapv:UnspecifiedMatching -OMIM:603189 STX5 skos:exactMatch ncbigene:6811 semapv:UnspecifiedMatching -OMIM:603190 PRMT3 skos:exactMatch hgnc.symbol:30163 semapv:UnspecifiedMatching -OMIM:603190 PRMT3 skos:exactMatch hgnc.symbol:PRMT3 semapv:UnspecifiedMatching -OMIM:603190 PRMT3 skos:exactMatch ncbigene:10196 semapv:UnspecifiedMatching -OMIM:603191 CFAP410 skos:exactMatch hgnc.symbol:1260 semapv:UnspecifiedMatching -OMIM:603191 CFAP410 skos:exactMatch hgnc.symbol:CFAP410 semapv:UnspecifiedMatching -OMIM:603191 CFAP410 skos:exactMatch ncbigene:755 semapv:UnspecifiedMatching -OMIM:603192 ATP5G1 skos:exactMatch hgnc.symbol:841 semapv:UnspecifiedMatching -OMIM:603192 ATP5G1 skos:exactMatch hgnc.symbol:ATP5MC1 semapv:UnspecifiedMatching -OMIM:603192 ATP5G1 skos:exactMatch ncbigene:516 semapv:UnspecifiedMatching -OMIM:603193 ATP5G2 skos:exactMatch hgnc.symbol:842 semapv:UnspecifiedMatching -OMIM:603193 ATP5G2 skos:exactMatch hgnc.symbol:ATP5MC2 semapv:UnspecifiedMatching -OMIM:603193 ATP5G2 skos:exactMatch ncbigene:517 semapv:UnspecifiedMatching -OMIM:603195 GPR32 skos:exactMatch hgnc.symbol:4487 semapv:UnspecifiedMatching -OMIM:603195 GPR32 skos:exactMatch hgnc.symbol:GPR32 semapv:UnspecifiedMatching -OMIM:603195 GPR32 skos:exactMatch ncbigene:2854 semapv:UnspecifiedMatching -OMIM:603196 COCH skos:exactMatch hgnc.symbol:2180 semapv:UnspecifiedMatching -OMIM:603196 COCH skos:exactMatch hgnc.symbol:COCH semapv:UnspecifiedMatching -OMIM:603196 COCH skos:exactMatch ncbigene:1690 semapv:UnspecifiedMatching -OMIM:603197 PNPLA6 skos:exactMatch hgnc.symbol:16268 semapv:UnspecifiedMatching -OMIM:603197 PNPLA6 skos:exactMatch hgnc.symbol:PNPLA6 semapv:UnspecifiedMatching -OMIM:603197 PNPLA6 skos:exactMatch ncbigene:10908 semapv:UnspecifiedMatching -OMIM:603198 CAVIN1 skos:exactMatch hgnc.symbol:9688 semapv:UnspecifiedMatching -OMIM:603198 CAVIN1 skos:exactMatch hgnc.symbol:CAVIN1 semapv:UnspecifiedMatching -OMIM:603198 CAVIN1 skos:exactMatch ncbigene:284119 semapv:UnspecifiedMatching -OMIM:603199 PATJ skos:exactMatch hgnc.symbol:28881 semapv:UnspecifiedMatching -OMIM:603199 PATJ skos:exactMatch hgnc.symbol:PATJ semapv:UnspecifiedMatching -OMIM:603199 PATJ skos:exactMatch ncbigene:10207 semapv:UnspecifiedMatching -OMIM:603200 RFXANK skos:exactMatch UMLS:C1419364 semapv:UnspecifiedMatching -OMIM:603200 RFXANK skos:exactMatch UMLS:C1859535 semapv:UnspecifiedMatching -OMIM:603200 RFXANK skos:exactMatch hgnc.symbol:9987 semapv:UnspecifiedMatching -OMIM:603200 RFXANK skos:exactMatch hgnc.symbol:RFXANK semapv:UnspecifiedMatching -OMIM:603200 RFXANK skos:exactMatch ncbigene:8625 semapv:UnspecifiedMatching -OMIM:603201 ABCB11 skos:exactMatch hgnc.symbol:42 semapv:UnspecifiedMatching -OMIM:603201 ABCB11 skos:exactMatch hgnc.symbol:ABCB11 semapv:UnspecifiedMatching -OMIM:603201 ABCB11 skos:exactMatch ncbigene:8647 semapv:UnspecifiedMatching -OMIM:603202 LCT skos:exactMatch hgnc.symbol:6530 semapv:UnspecifiedMatching -OMIM:603202 LCT skos:exactMatch hgnc.symbol:LCT semapv:UnspecifiedMatching -OMIM:603202 LCT skos:exactMatch ncbigene:3938 semapv:UnspecifiedMatching -OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:1593 semapv:UnspecifiedMatching -OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:CCNG2 semapv:UnspecifiedMatching -OMIM:603203 CCNG2 skos:exactMatch ncbigene:901 semapv:UnspecifiedMatching -OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:7198 semapv:UnspecifiedMatching -OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:MORC1 semapv:UnspecifiedMatching -OMIM:603205 MORC1 skos:exactMatch ncbigene:27136 semapv:UnspecifiedMatching -OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:17793 semapv:UnspecifiedMatching -OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:VTI1B semapv:UnspecifiedMatching -OMIM:603207 VTI1B skos:exactMatch ncbigene:10490 semapv:UnspecifiedMatching -OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:6259 semapv:UnspecifiedMatching -OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:KCNJ13 semapv:UnspecifiedMatching -OMIM:603208 KCNJ13 skos:exactMatch ncbigene:3769 semapv:UnspecifiedMatching -OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:2098 semapv:UnspecifiedMatching -OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:CMAHP semapv:UnspecifiedMatching -OMIM:603210 JRK skos:exactMatch UMLS:C1416531 semapv:UnspecifiedMatching -OMIM:603210 JRK skos:exactMatch hgnc.symbol:6199 semapv:UnspecifiedMatching -OMIM:603210 JRK skos:exactMatch hgnc.symbol:JRK semapv:UnspecifiedMatching -OMIM:603210 JRK skos:exactMatch ncbigene:8629 semapv:UnspecifiedMatching -OMIM:603211 JRKL skos:exactMatch hgnc.symbol:6200 semapv:UnspecifiedMatching -OMIM:603211 JRKL skos:exactMatch hgnc.symbol:JRKL semapv:UnspecifiedMatching -OMIM:603211 JRKL skos:exactMatch ncbigene:8690 semapv:UnspecifiedMatching -OMIM:603212 BFSP2 skos:exactMatch hgnc.symbol:1041 semapv:UnspecifiedMatching -OMIM:603212 BFSP2 skos:exactMatch hgnc.symbol:BFSP2 semapv:UnspecifiedMatching -OMIM:603212 BFSP2 skos:exactMatch ncbigene:8419 semapv:UnspecifiedMatching -OMIM:603213 KIF22 skos:exactMatch hgnc.symbol:6391 semapv:UnspecifiedMatching -OMIM:603213 KIF22 skos:exactMatch hgnc.symbol:KIF22 semapv:UnspecifiedMatching -OMIM:603213 KIF22 skos:exactMatch ncbigene:3835 semapv:UnspecifiedMatching -OMIM:603214 ABCD4 skos:exactMatch hgnc.symbol:68 semapv:UnspecifiedMatching -OMIM:603214 ABCD4 skos:exactMatch hgnc.symbol:ABCD4 semapv:UnspecifiedMatching -OMIM:603214 ABCD4 skos:exactMatch ncbigene:5826 semapv:UnspecifiedMatching -OMIM:603215 NAPA skos:exactMatch hgnc.symbol:7641 semapv:UnspecifiedMatching -OMIM:603215 NAPA skos:exactMatch hgnc.symbol:NAPA semapv:UnspecifiedMatching -OMIM:603215 NAPA skos:exactMatch ncbigene:8775 semapv:UnspecifiedMatching -OMIM:603216 NAPG skos:exactMatch hgnc.symbol:7642 semapv:UnspecifiedMatching -OMIM:603216 NAPG skos:exactMatch hgnc.symbol:NAPG semapv:UnspecifiedMatching -OMIM:603216 NAPG skos:exactMatch ncbigene:8774 semapv:UnspecifiedMatching -OMIM:603217 STX7 skos:exactMatch hgnc.symbol:11442 semapv:UnspecifiedMatching -OMIM:603217 STX7 skos:exactMatch hgnc.symbol:STX7 semapv:UnspecifiedMatching -OMIM:603217 STX7 skos:exactMatch ncbigene:8417 semapv:UnspecifiedMatching -OMIM:603219 KCNK2 skos:exactMatch hgnc.symbol:6277 semapv:UnspecifiedMatching -OMIM:603219 KCNK2 skos:exactMatch hgnc.symbol:KCNK2 semapv:UnspecifiedMatching -OMIM:603219 KCNK2 skos:exactMatch ncbigene:3776 semapv:UnspecifiedMatching -OMIM:603220 KCNK3 skos:exactMatch UMLS:C1416596 semapv:UnspecifiedMatching -OMIM:603220 KCNK3 skos:exactMatch UMLS:C3809198 semapv:UnspecifiedMatching -OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:6278 semapv:UnspecifiedMatching -OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:KCNK3 semapv:UnspecifiedMatching -OMIM:603220 KCNK3 skos:exactMatch ncbigene:3777 semapv:UnspecifiedMatching -OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:32688 semapv:UnspecifiedMatching -OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:SNHG1 semapv:UnspecifiedMatching -OMIM:603222 u22 host gene skos:exactMatch ncbigene:23642 semapv:UnspecifiedMatching -OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:10145 semapv:UnspecifiedMatching -OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:SNORD22 semapv:UnspecifiedMatching -OMIM:603223 RNU22 skos:exactMatch ncbigene:9304 semapv:UnspecifiedMatching -OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:10147 semapv:UnspecifiedMatching -OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:SNORD25 semapv:UnspecifiedMatching -OMIM:603224 RNU25 skos:exactMatch ncbigene:9303 semapv:UnspecifiedMatching -OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:10148 semapv:UnspecifiedMatching -OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:SNORD26 semapv:UnspecifiedMatching -OMIM:603225 RNU26 skos:exactMatch ncbigene:9302 semapv:UnspecifiedMatching -OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:10149 semapv:UnspecifiedMatching -OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:SNORD27 semapv:UnspecifiedMatching -OMIM:603226 RNU27 skos:exactMatch ncbigene:9301 semapv:UnspecifiedMatching -OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:10150 semapv:UnspecifiedMatching -OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:SNORD28 semapv:UnspecifiedMatching -OMIM:603227 RNU28 skos:exactMatch ncbigene:9300 semapv:UnspecifiedMatching -OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:10151 semapv:UnspecifiedMatching -OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:SNORD29 semapv:UnspecifiedMatching -OMIM:603228 RNU29 skos:exactMatch ncbigene:9297 semapv:UnspecifiedMatching -OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:10157 semapv:UnspecifiedMatching -OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:SNORD30 semapv:UnspecifiedMatching -OMIM:603229 RNU30 skos:exactMatch ncbigene:9299 semapv:UnspecifiedMatching -OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:10158 semapv:UnspecifiedMatching -OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:SNORD31 semapv:UnspecifiedMatching -OMIM:603230 RNU31 skos:exactMatch ncbigene:9298 semapv:UnspecifiedMatching -OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:12993 semapv:UnspecifiedMatching -OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:ZNF200 semapv:UnspecifiedMatching -OMIM:603231 ZNF200 skos:exactMatch ncbigene:7752 semapv:UnspecifiedMatching -OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:8194 semapv:UnspecifiedMatching -OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:OR1F1 semapv:UnspecifiedMatching -OMIM:603232 OR1F1 skos:exactMatch ncbigene:4992 semapv:UnspecifiedMatching -OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:57 semapv:UnspecifiedMatching -OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:ABCC6 semapv:UnspecifiedMatching -OMIM:603234 ABCC6 skos:exactMatch ncbigene:368 semapv:UnspecifiedMatching -OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:10752 semapv:UnspecifiedMatching -OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:SELENOW semapv:UnspecifiedMatching -OMIM:603235 SELENOW skos:exactMatch ncbigene:6415 semapv:UnspecifiedMatching -OMIM:603236 MVD skos:exactMatch hgnc.symbol:7529 semapv:UnspecifiedMatching -OMIM:603236 MVD skos:exactMatch hgnc.symbol:MVD semapv:UnspecifiedMatching -OMIM:603236 MVD skos:exactMatch ncbigene:4597 semapv:UnspecifiedMatching -OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:3379 semapv:UnspecifiedMatching -OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:EPB41L2 semapv:UnspecifiedMatching -OMIM:603237 EPB41L2 skos:exactMatch ncbigene:2037 semapv:UnspecifiedMatching -OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:10118 semapv:UnspecifiedMatching -OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:SNHG3 semapv:UnspecifiedMatching -OMIM:603238 RNU17D skos:exactMatch ncbigene:8420 semapv:UnspecifiedMatching -OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:10116 semapv:UnspecifiedMatching -OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:SNORA73B semapv:UnspecifiedMatching -OMIM:603239 SNORA73B skos:exactMatch ncbigene:26768 semapv:UnspecifiedMatching -OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:10965 semapv:UnspecifiedMatching -OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:SLC22A18AS semapv:UnspecifiedMatching -OMIM:603240 SLC22A18AS skos:exactMatch ncbigene:5003 semapv:UnspecifiedMatching -OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:6705 semapv:UnspecifiedMatching -OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:LSAMP semapv:UnspecifiedMatching -OMIM:603241 LSAMP skos:exactMatch ncbigene:4045 semapv:UnspecifiedMatching -OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:2053 semapv:UnspecifiedMatching -OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:CLEC2B semapv:UnspecifiedMatching -OMIM:603242 CLEC2B skos:exactMatch ncbigene:9976 semapv:UnspecifiedMatching -OMIM:603243 AMFR skos:exactMatch hgnc.symbol:463 semapv:UnspecifiedMatching -OMIM:603243 AMFR skos:exactMatch hgnc.symbol:AMFR semapv:UnspecifiedMatching -OMIM:603243 AMFR skos:exactMatch ncbigene:267 semapv:UnspecifiedMatching -OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:5194 semapv:UnspecifiedMatching -OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:HS3ST1 semapv:UnspecifiedMatching -OMIM:603244 HS3ST1 skos:exactMatch ncbigene:9957 semapv:UnspecifiedMatching -OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:16364 semapv:UnspecifiedMatching -OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:NKX2-8 semapv:UnspecifiedMatching -OMIM:603245 NKX2-8 skos:exactMatch ncbigene:26257 semapv:UnspecifiedMatching -OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:4664 semapv:UnspecifiedMatching -OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:GTF3C1 semapv:UnspecifiedMatching -OMIM:603246 GTF3C1 skos:exactMatch ncbigene:2975 semapv:UnspecifiedMatching -OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:10996 semapv:UnspecifiedMatching -OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:SLC27A2 semapv:UnspecifiedMatching -OMIM:603247 SLC27A2 skos:exactMatch ncbigene:11001 semapv:UnspecifiedMatching -OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:1077 semapv:UnspecifiedMatching -OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:BMPR1B semapv:UnspecifiedMatching -OMIM:603248 BMPR1B skos:exactMatch ncbigene:658 semapv:UnspecifiedMatching -OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:7827 semapv:UnspecifiedMatching -OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:NIPSNAP1 semapv:UnspecifiedMatching -OMIM:603249 NIPSNAP1 skos:exactMatch ncbigene:8508 semapv:UnspecifiedMatching -OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:3810 semapv:UnspecifiedMatching -OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:FOXF2 semapv:UnspecifiedMatching -OMIM:603250 FOXF2 skos:exactMatch ncbigene:2295 semapv:UnspecifiedMatching -OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:1780 semapv:UnspecifiedMatching -OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:CDK9 semapv:UnspecifiedMatching -OMIM:603251 CDK9 skos:exactMatch ncbigene:1025 semapv:UnspecifiedMatching -OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:3817 semapv:UnspecifiedMatching -OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:FOXL1 semapv:UnspecifiedMatching -OMIM:603252 FOXL1 skos:exactMatch ncbigene:2300 semapv:UnspecifiedMatching -OMIM:603253 CST7 skos:exactMatch hgnc.symbol:2479 semapv:UnspecifiedMatching -OMIM:603253 CST7 skos:exactMatch hgnc.symbol:CST7 semapv:UnspecifiedMatching -OMIM:603253 CST7 skos:exactMatch ncbigene:8530 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch UMLS:C1335843 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch UMLS:C2750074 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch UMLS:C3553249 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:11100 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:SMARCA4 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch ncbigene:6597 semapv:UnspecifiedMatching -OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:7803 semapv:UnspecifiedMatching -OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:NFX1 semapv:UnspecifiedMatching -OMIM:603255 NFX1 skos:exactMatch ncbigene:4799 semapv:UnspecifiedMatching -OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:6702 semapv:UnspecifiedMatching -OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:LRRFIP1 semapv:UnspecifiedMatching -OMIM:603256 LRRFIP1 skos:exactMatch ncbigene:9208 semapv:UnspecifiedMatching -OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:11099 semapv:UnspecifiedMatching -OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:HLTF semapv:UnspecifiedMatching -OMIM:603257 SMARCA3 skos:exactMatch ncbigene:6596 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch UMLS:C1442489 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:5960 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:IKBKB semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch ncbigene:3551 semapv:UnspecifiedMatching -OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:955 semapv:UnspecifiedMatching -OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:BARX1 semapv:UnspecifiedMatching -OMIM:603260 BARX1 skos:exactMatch ncbigene:56033 semapv:UnspecifiedMatching -OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:8998 semapv:UnspecifiedMatching -OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:PIP4K2B semapv:UnspecifiedMatching -OMIM:603261 PIP4K2B skos:exactMatch ncbigene:8396 semapv:UnspecifiedMatching -OMIM:603262 PAPSS1 skos:exactMatch hgnc.symbol:8603 semapv:UnspecifiedMatching -OMIM:603262 PAPSS1 skos:exactMatch hgnc.symbol:PAPSS1 semapv:UnspecifiedMatching -OMIM:603262 PAPSS1 skos:exactMatch ncbigene:9061 semapv:UnspecifiedMatching -OMIM:603263 CA12 skos:exactMatch hgnc.symbol:1371 semapv:UnspecifiedMatching -OMIM:603263 CA12 skos:exactMatch hgnc.symbol:CA12 semapv:UnspecifiedMatching -OMIM:603263 CA12 skos:exactMatch ncbigene:771 semapv:UnspecifiedMatching -OMIM:603264 RHBDL1 skos:exactMatch hgnc.symbol:10007 semapv:UnspecifiedMatching -OMIM:603264 RHBDL1 skos:exactMatch hgnc.symbol:RHBDL1 semapv:UnspecifiedMatching -OMIM:603264 RHBDL1 skos:exactMatch ncbigene:9028 semapv:UnspecifiedMatching -OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:3031 semapv:UnspecifiedMatching -OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:ARID3A semapv:UnspecifiedMatching -OMIM:603265 ARID3A skos:exactMatch ncbigene:1820 semapv:UnspecifiedMatching -OMIM:603266 iia 1 diabetes mellitus 17 skos:exactMatch UMLS:C1864068 semapv:UnspecifiedMatching -OMIM:603267 CAPN15 skos:exactMatch UMLS:C1420309 semapv:UnspecifiedMatching -OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:11182 semapv:UnspecifiedMatching -OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:CAPN15 semapv:UnspecifiedMatching -OMIM:603267 CAPN15 skos:exactMatch ncbigene:6650 semapv:UnspecifiedMatching -OMIM:603268 NDST2 skos:exactMatch hgnc.symbol:7681 semapv:UnspecifiedMatching -OMIM:603268 NDST2 skos:exactMatch hgnc.symbol:NDST2 semapv:UnspecifiedMatching -OMIM:603268 NDST2 skos:exactMatch ncbigene:8509 semapv:UnspecifiedMatching -OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:16988 semapv:UnspecifiedMatching -OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:SRSF8 semapv:UnspecifiedMatching -OMIM:603269 SRSF8 skos:exactMatch ncbigene:10929 semapv:UnspecifiedMatching -OMIM:603270 ATP5PB skos:exactMatch UMLS:C1412661 semapv:UnspecifiedMatching -OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:840 semapv:UnspecifiedMatching -OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:ATP5PB semapv:UnspecifiedMatching -OMIM:603270 ATP5PB skos:exactMatch ncbigene:515 semapv:UnspecifiedMatching -OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:9651 semapv:UnspecifiedMatching -OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:PTPN21 semapv:UnspecifiedMatching -OMIM:603271 PTPN21 skos:exactMatch ncbigene:11099 semapv:UnspecifiedMatching -OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:19700 semapv:UnspecifiedMatching -OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:CNKSR1 semapv:UnspecifiedMatching -OMIM:603272 CNKSR1 skos:exactMatch ncbigene:10256 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1422009 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1854442 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1858562 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch hgnc.symbol:15979 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch hgnc.symbol:TP63 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch ncbigene:8626 semapv:UnspecifiedMatching -OMIM:603275 PIP5K1A skos:exactMatch hgnc.symbol:8994 semapv:UnspecifiedMatching -OMIM:603275 PIP5K1A skos:exactMatch hgnc.symbol:PIP5K1A semapv:UnspecifiedMatching -OMIM:603275 PIP5K1A skos:exactMatch ncbigene:8394 semapv:UnspecifiedMatching -OMIM:603276 RGS5 skos:exactMatch hgnc.symbol:10001 semapv:UnspecifiedMatching -OMIM:603276 RGS5 skos:exactMatch hgnc.symbol:RGS5 semapv:UnspecifiedMatching -OMIM:603276 RGS5 skos:exactMatch ncbigene:8490 semapv:UnspecifiedMatching -OMIM:603277 CHD4 skos:exactMatch hgnc.symbol:1919 semapv:UnspecifiedMatching -OMIM:603277 CHD4 skos:exactMatch hgnc.symbol:CHD4 semapv:UnspecifiedMatching -OMIM:603277 CHD4 skos:exactMatch ncbigene:1108 semapv:UnspecifiedMatching -OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch UMLS:C4551527 semapv:UnspecifiedMatching -OMIM:603279 ERDA1 skos:exactMatch hgnc.symbol:3442 semapv:UnspecifiedMatching -OMIM:603279 ERDA1 skos:exactMatch hgnc.symbol:ERDA1 semapv:UnspecifiedMatching -OMIM:603279 ERDA1 skos:exactMatch ncbigene:9030 semapv:UnspecifiedMatching -OMIM:603281 OASL skos:exactMatch hgnc.symbol:8090 semapv:UnspecifiedMatching -OMIM:603281 OASL skos:exactMatch hgnc.symbol:OASL semapv:UnspecifiedMatching -OMIM:603281 OASL skos:exactMatch ncbigene:8638 semapv:UnspecifiedMatching -OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc.symbol:12995 semapv:UnspecifiedMatching -OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc.symbol:ZNF204P semapv:UnspecifiedMatching -OMIM:603283 TRDN skos:exactMatch hgnc.symbol:12261 semapv:UnspecifiedMatching -OMIM:603283 TRDN skos:exactMatch hgnc.symbol:TRDN semapv:UnspecifiedMatching -OMIM:603283 TRDN skos:exactMatch ncbigene:10345 semapv:UnspecifiedMatching -OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching -OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch UMLS:C1864040 semapv:UnspecifiedMatching -OMIM:603286 KISS1 skos:exactMatch hgnc.symbol:6341 semapv:UnspecifiedMatching -OMIM:603286 KISS1 skos:exactMatch hgnc.symbol:KISS1 semapv:UnspecifiedMatching -OMIM:603286 KISS1 skos:exactMatch ncbigene:3814 semapv:UnspecifiedMatching -OMIM:603287 PNPO skos:exactMatch hgnc.symbol:30260 semapv:UnspecifiedMatching -OMIM:603287 PNPO skos:exactMatch hgnc.symbol:PNPO semapv:UnspecifiedMatching -OMIM:603287 PNPO skos:exactMatch ncbigene:55163 semapv:UnspecifiedMatching -OMIM:603288 KERA skos:exactMatch hgnc.symbol:6309 semapv:UnspecifiedMatching -OMIM:603288 KERA skos:exactMatch hgnc.symbol:KERA semapv:UnspecifiedMatching -OMIM:603288 KERA skos:exactMatch ncbigene:11081 semapv:UnspecifiedMatching -OMIM:603289 DAPK3 skos:exactMatch hgnc.symbol:2676 semapv:UnspecifiedMatching -OMIM:603289 DAPK3 skos:exactMatch hgnc.symbol:DAPK3 semapv:UnspecifiedMatching -OMIM:603289 DAPK3 skos:exactMatch ncbigene:1613 semapv:UnspecifiedMatching -OMIM:603290 SHANK2 skos:exactMatch hgnc.symbol:14295 semapv:UnspecifiedMatching -OMIM:603290 SHANK2 skos:exactMatch hgnc.symbol:SHANK2 semapv:UnspecifiedMatching -OMIM:603290 SHANK2 skos:exactMatch ncbigene:22941 semapv:UnspecifiedMatching -OMIM:603291 BNIP1 skos:exactMatch hgnc.symbol:1082 semapv:UnspecifiedMatching -OMIM:603291 BNIP1 skos:exactMatch hgnc.symbol:BNIP1 semapv:UnspecifiedMatching -OMIM:603291 BNIP1 skos:exactMatch ncbigene:662 semapv:UnspecifiedMatching -OMIM:603292 BNIP2 skos:exactMatch hgnc.symbol:1083 semapv:UnspecifiedMatching -OMIM:603292 BNIP2 skos:exactMatch hgnc.symbol:BNIP2 semapv:UnspecifiedMatching -OMIM:603292 BNIP2 skos:exactMatch ncbigene:663 semapv:UnspecifiedMatching -OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:1084 semapv:UnspecifiedMatching -OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:BNIP3 semapv:UnspecifiedMatching -OMIM:603293 BNIP3 skos:exactMatch ncbigene:664 semapv:UnspecifiedMatching -OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:6946 semapv:UnspecifiedMatching -OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:MCM3AP semapv:UnspecifiedMatching -OMIM:603294 MCM3AP skos:exactMatch ncbigene:8888 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch UMLS:C1416964 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch UMLS:C3888002 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:6774 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:SMAD9 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch ncbigene:4093 semapv:UnspecifiedMatching -OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:15606 semapv:UnspecifiedMatching -OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:LAMTOR3 semapv:UnspecifiedMatching -OMIM:603296 LAMTOR3 skos:exactMatch ncbigene:8649 semapv:UnspecifiedMatching -OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:2962 semapv:UnspecifiedMatching -OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:DYNC2H1 semapv:UnspecifiedMatching -OMIM:603297 DYNC2H1 skos:exactMatch ncbigene:79659 semapv:UnspecifiedMatching -OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:9326 semapv:UnspecifiedMatching -OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:PPT2 semapv:UnspecifiedMatching -OMIM:603298 PPT2 skos:exactMatch ncbigene:9374 semapv:UnspecifiedMatching -OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:11895 semapv:UnspecifiedMatching -OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:TNFAIP2 semapv:UnspecifiedMatching -OMIM:603300 TNFAIP2 skos:exactMatch ncbigene:7127 semapv:UnspecifiedMatching -OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:11811 semapv:UnspecifiedMatching -OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:KLF11 semapv:UnspecifiedMatching -OMIM:603301 KLF11 skos:exactMatch ncbigene:8462 semapv:UnspecifiedMatching -OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:240 semapv:UnspecifiedMatching -OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:ADCY9 semapv:UnspecifiedMatching -OMIM:603302 ADCY9 skos:exactMatch ncbigene:115 semapv:UnspecifiedMatching -OMIM:603303 TNKS skos:exactMatch hgnc.symbol:11941 semapv:UnspecifiedMatching -OMIM:603303 TNKS skos:exactMatch hgnc.symbol:TNKS semapv:UnspecifiedMatching -OMIM:603303 TNKS skos:exactMatch ncbigene:8658 semapv:UnspecifiedMatching -OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:6113 semapv:UnspecifiedMatching -OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:IRAK2 semapv:UnspecifiedMatching -OMIM:603304 IRAK2 skos:exactMatch ncbigene:3656 semapv:UnspecifiedMatching -OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:6250 semapv:UnspecifiedMatching -OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:KCNH1 semapv:UnspecifiedMatching -OMIM:603305 KCNH1 skos:exactMatch ncbigene:3756 semapv:UnspecifiedMatching -OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:11632 semapv:UnspecifiedMatching -OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:TCF21 semapv:UnspecifiedMatching -OMIM:603306 TCF21 skos:exactMatch ncbigene:6943 semapv:UnspecifiedMatching -OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:1040 semapv:UnspecifiedMatching -OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:BFSP1 semapv:UnspecifiedMatching -OMIM:603307 BFSP1 skos:exactMatch ncbigene:631 semapv:UnspecifiedMatching -OMIM:603308 CTSV skos:exactMatch hgnc.symbol:2538 semapv:UnspecifiedMatching -OMIM:603308 CTSV skos:exactMatch hgnc.symbol:CTSV semapv:UnspecifiedMatching -OMIM:603308 CTSV skos:exactMatch ncbigene:1515 semapv:UnspecifiedMatching -OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:1733 semapv:UnspecifiedMatching -OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:CDK13 semapv:UnspecifiedMatching -OMIM:603309 CDK13 skos:exactMatch ncbigene:8621 semapv:UnspecifiedMatching -OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:8784 semapv:UnspecifiedMatching -OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:PDE5A semapv:UnspecifiedMatching -OMIM:603310 PDE5A skos:exactMatch ncbigene:8654 semapv:UnspecifiedMatching -OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:1745 semapv:UnspecifiedMatching -OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:CDC7 semapv:UnspecifiedMatching -OMIM:603311 CDC7 skos:exactMatch ncbigene:8317 semapv:UnspecifiedMatching -OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:964 semapv:UnspecifiedMatching -OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:BBOX1 semapv:UnspecifiedMatching -OMIM:603312 BBOX1 skos:exactMatch ncbigene:8424 semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch UMLS:C1538264 semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch UMLS:C4016828 semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:31088 semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:ALG10B semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch ncbigene:144245 semapv:UnspecifiedMatching -OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:10999 semapv:UnspecifiedMatching -OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:SLC27A5 semapv:UnspecifiedMatching -OMIM:603314 SLC27A5 skos:exactMatch ncbigene:10998 semapv:UnspecifiedMatching -OMIM:603315 NCS1 skos:exactMatch UMLS:C1414814 semapv:UnspecifiedMatching -OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:3953 semapv:UnspecifiedMatching -OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:NCS1 semapv:UnspecifiedMatching -OMIM:603315 NCS1 skos:exactMatch ncbigene:23413 semapv:UnspecifiedMatching -OMIM:603316 CMAS skos:exactMatch hgnc.symbol:18290 semapv:UnspecifiedMatching -OMIM:603316 CMAS skos:exactMatch hgnc.symbol:CMAS semapv:UnspecifiedMatching -OMIM:603316 CMAS skos:exactMatch ncbigene:55907 semapv:UnspecifiedMatching -OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:9679 semapv:UnspecifiedMatching -OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:PTPRQ semapv:UnspecifiedMatching -OMIM:603317 PTPRQ skos:exactMatch ncbigene:374462 semapv:UnspecifiedMatching -OMIM:603319 ANXA9 skos:exactMatch hgnc.symbol:547 semapv:UnspecifiedMatching -OMIM:603319 ANXA9 skos:exactMatch hgnc.symbol:ANXA9 semapv:UnspecifiedMatching -OMIM:603319 ANXA9 skos:exactMatch ncbigene:8416 semapv:UnspecifiedMatching -OMIM:603320 MMP23A skos:exactMatch hgnc.symbol:7170 semapv:UnspecifiedMatching -OMIM:603320 MMP23A skos:exactMatch hgnc.symbol:MMP23A semapv:UnspecifiedMatching -OMIM:603320 MMP23A skos:exactMatch ncbigene:8511 semapv:UnspecifiedMatching -OMIM:603321 MMP23B skos:exactMatch hgnc.symbol:7171 semapv:UnspecifiedMatching -OMIM:603321 MMP23B skos:exactMatch hgnc.symbol:MMP23B semapv:UnspecifiedMatching -OMIM:603321 MMP23B skos:exactMatch ncbigene:8510 semapv:UnspecifiedMatching -OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:7701 semapv:UnspecifiedMatching -OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:NDUFB6 semapv:UnspecifiedMatching -OMIM:603322 NDUFB6 skos:exactMatch ncbigene:4712 semapv:UnspecifiedMatching -OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:4285 semapv:UnspecifiedMatching -OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:GJB3 semapv:UnspecifiedMatching -OMIM:603324 GJB3 skos:exactMatch ncbigene:2707 semapv:UnspecifiedMatching -OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:9298 semapv:UnspecifiedMatching -OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:PPP1R9B semapv:UnspecifiedMatching -OMIM:603325 PPP1R9B skos:exactMatch ncbigene:84687 semapv:UnspecifiedMatching -OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:9294 semapv:UnspecifiedMatching -OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:PPP1R3D semapv:UnspecifiedMatching -OMIM:603326 PPP1R3D skos:exactMatch ncbigene:5509 semapv:UnspecifiedMatching -OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:9850 semapv:UnspecifiedMatching -OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:RANBP3 semapv:UnspecifiedMatching -OMIM:603327 RANBP3 skos:exactMatch ncbigene:8498 semapv:UnspecifiedMatching -OMIM:603328 MSI1 skos:exactMatch UMLS:C1417335 semapv:UnspecifiedMatching -OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:7330 semapv:UnspecifiedMatching -OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:MSI1 semapv:UnspecifiedMatching -OMIM:603328 MSI1 skos:exactMatch ncbigene:4440 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch UMLS:C1414104 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch UMLS:C4749090 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:2953 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:DNAH9 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch ncbigene:1770 semapv:UnspecifiedMatching -OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:2964 semapv:UnspecifiedMatching -OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:DYNC1I2 semapv:UnspecifiedMatching -OMIM:603331 DYNC1I2 skos:exactMatch ncbigene:1781 semapv:UnspecifiedMatching -OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:2940 semapv:UnspecifiedMatching -OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:DNAH1 semapv:UnspecifiedMatching -OMIM:603332 DNAH1 skos:exactMatch ncbigene:25981 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch UMLS:C1414099 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:2948 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:DNAH2 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch ncbigene:146754 semapv:UnspecifiedMatching -OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:2949 semapv:UnspecifiedMatching -OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:DNAH3 semapv:UnspecifiedMatching -OMIM:603334 DNAH3 skos:exactMatch ncbigene:55567 semapv:UnspecifiedMatching -OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:2950 semapv:UnspecifiedMatching -OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:DNAH5 semapv:UnspecifiedMatching -OMIM:603335 DNAH5 skos:exactMatch ncbigene:1767 semapv:UnspecifiedMatching -OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:2951 semapv:UnspecifiedMatching -OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:DNAH6 semapv:UnspecifiedMatching -OMIM:603336 DNAH6 skos:exactMatch ncbigene:1768 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch UMLS:C1414103 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:2952 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:DNAH8 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch ncbigene:1769 semapv:UnspecifiedMatching -OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:2942 semapv:UnspecifiedMatching -OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:DNAH11 semapv:UnspecifiedMatching -OMIM:603339 DNAH11 skos:exactMatch ncbigene:8701 semapv:UnspecifiedMatching -OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:2943 semapv:UnspecifiedMatching -OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:DNAH12 semapv:UnspecifiedMatching -OMIM:603340 DNAH12 skos:exactMatch ncbigene:201625 semapv:UnspecifiedMatching -OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:2945 semapv:UnspecifiedMatching -OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:DNAH14 semapv:UnspecifiedMatching -OMIM:603341 DNAH14 skos:exactMatch ncbigene:127602 semapv:UnspecifiedMatching -OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:9828 semapv:UnspecifiedMatching -OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:RAE1 semapv:UnspecifiedMatching -OMIM:603343 RAE1 skos:exactMatch ncbigene:8480 semapv:UnspecifiedMatching -OMIM:603344 USO1 skos:exactMatch hgnc.symbol:30904 semapv:UnspecifiedMatching -OMIM:603344 USO1 skos:exactMatch hgnc.symbol:USO1 semapv:UnspecifiedMatching -OMIM:603344 USO1 skos:exactMatch ncbigene:8615 semapv:UnspecifiedMatching -OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:11030 semapv:UnspecifiedMatching -OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:SLC4A4 semapv:UnspecifiedMatching -OMIM:603345 SLC4A4 skos:exactMatch ncbigene:8671 semapv:UnspecifiedMatching -OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:7894 semapv:UnspecifiedMatching -OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:NPAS1 semapv:UnspecifiedMatching -OMIM:603346 NPAS1 skos:exactMatch ncbigene:4861 semapv:UnspecifiedMatching -OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:7895 semapv:UnspecifiedMatching -OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:NPAS2 semapv:UnspecifiedMatching -OMIM:603347 NPAS2 skos:exactMatch ncbigene:4862 semapv:UnspecifiedMatching -OMIM:603348 HIF1A skos:exactMatch UMLS:C1333897 semapv:UnspecifiedMatching -OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:4910 semapv:UnspecifiedMatching -OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:HIF1A semapv:UnspecifiedMatching -OMIM:603348 HIF1A skos:exactMatch ncbigene:3091 semapv:UnspecifiedMatching -OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:3374 semapv:UnspecifiedMatching -OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:EPAS1 semapv:UnspecifiedMatching -OMIM:603349 EPAS1 skos:exactMatch ncbigene:2034 semapv:UnspecifiedMatching -OMIM:603350 OAS2 skos:exactMatch UMLS:C1417913 semapv:UnspecifiedMatching -OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:8087 semapv:UnspecifiedMatching -OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:OAS2 semapv:UnspecifiedMatching -OMIM:603350 OAS2 skos:exactMatch ncbigene:4939 semapv:UnspecifiedMatching -OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:8088 semapv:UnspecifiedMatching -OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:OAS3 semapv:UnspecifiedMatching -OMIM:603351 OAS3 skos:exactMatch ncbigene:4940 semapv:UnspecifiedMatching -OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:593 semapv:UnspecifiedMatching -OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:BIRC5 semapv:UnspecifiedMatching -OMIM:603352 BIRC5 skos:exactMatch ncbigene:332 semapv:UnspecifiedMatching -OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:11033 semapv:UnspecifiedMatching -OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:SLC4A7 semapv:UnspecifiedMatching -OMIM:603353 SLC4A7 skos:exactMatch ncbigene:9497 semapv:UnspecifiedMatching -OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:4185 semapv:UnspecifiedMatching -OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:GBX1 semapv:UnspecifiedMatching -OMIM:603354 GBX1 skos:exactMatch ncbigene:2636 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch UMLS:C1423502 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch UMLS:C5193071 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:15456 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:MBTPS1 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch ncbigene:8720 semapv:UnspecifiedMatching -OMIM:603356 CD164 skos:exactMatch hgnc.symbol:1632 semapv:UnspecifiedMatching -OMIM:603356 CD164 skos:exactMatch hgnc.symbol:CD164 semapv:UnspecifiedMatching -OMIM:603356 CD164 skos:exactMatch ncbigene:8763 semapv:UnspecifiedMatching -OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:13902 semapv:UnspecifiedMatching -OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:SERPINB7 semapv:UnspecifiedMatching -OMIM:603357 SERPINB7 skos:exactMatch ncbigene:8710 semapv:UnspecifiedMatching -OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:7692 semapv:UnspecifiedMatching -OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:NDUFA8 semapv:UnspecifiedMatching -OMIM:603359 NDUFA8 skos:exactMatch ncbigene:4702 semapv:UnspecifiedMatching -OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:8857 semapv:UnspecifiedMatching -OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:PEX16 semapv:UnspecifiedMatching -OMIM:603360 PEX16 skos:exactMatch ncbigene:9409 semapv:UnspecifiedMatching -OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:11921 semapv:UnspecifiedMatching -OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:TNFRSF6B semapv:UnspecifiedMatching -OMIM:603361 TNFRSF6B skos:exactMatch ncbigene:8771 semapv:UnspecifiedMatching -OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:10832 semapv:UnspecifiedMatching -OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:SH3GL3 semapv:UnspecifiedMatching -OMIM:603362 SH3GL3 skos:exactMatch ncbigene:6457 semapv:UnspecifiedMatching -OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:1888 semapv:UnspecifiedMatching -OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:CGGBP1 semapv:UnspecifiedMatching -OMIM:603363 CGGBP1 skos:exactMatch ncbigene:8545 semapv:UnspecifiedMatching -OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:10785 semapv:UnspecifiedMatching -OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:SRSF3 semapv:UnspecifiedMatching -OMIM:603364 SRSF3 skos:exactMatch ncbigene:6428 semapv:UnspecifiedMatching -OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:4917 semapv:UnspecifiedMatching -OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:HIRIP3 semapv:UnspecifiedMatching -OMIM:603365 HIRIP3 skos:exactMatch ncbigene:8479 semapv:UnspecifiedMatching -OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:11910 semapv:UnspecifiedMatching -OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:TNFRSF25 semapv:UnspecifiedMatching -OMIM:603366 TNFRSF25 skos:exactMatch ncbigene:8718 semapv:UnspecifiedMatching -OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:1777 semapv:UnspecifiedMatching -OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:CDK6 semapv:UnspecifiedMatching -OMIM:603368 CDK6 skos:exactMatch ncbigene:1021 semapv:UnspecifiedMatching -OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:1789 semapv:UnspecifiedMatching -OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:CDKN2C semapv:UnspecifiedMatching -OMIM:603369 CDKN2C skos:exactMatch ncbigene:1031 semapv:UnspecifiedMatching -OMIM:603370 UGDH skos:exactMatch UMLS:C1442771 semapv:UnspecifiedMatching -OMIM:603370 UGDH skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching -OMIM:603370 UGDH skos:exactMatch hgnc.symbol:12525 semapv:UnspecifiedMatching -OMIM:603370 UGDH skos:exactMatch hgnc.symbol:UGDH semapv:UnspecifiedMatching -OMIM:603370 UGDH skos:exactMatch ncbigene:7358 semapv:UnspecifiedMatching -OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:4315 semapv:UnspecifiedMatching -OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:GLE1 semapv:UnspecifiedMatching -OMIM:603371 GLE1 skos:exactMatch ncbigene:2733 semapv:UnspecifiedMatching -OMIM:603372 TSHR skos:exactMatch hgnc.symbol:12373 semapv:UnspecifiedMatching -OMIM:603372 TSHR skos:exactMatch hgnc.symbol:TSHR semapv:UnspecifiedMatching -OMIM:603372 TSHR skos:exactMatch ncbigene:7253 semapv:UnspecifiedMatching -OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch Orphanet:99819 semapv:UnspecifiedMatching -OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch UMLS:C1863959 semapv:UnspecifiedMatching -OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:11101 semapv:UnspecifiedMatching -OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:SMARCA5 semapv:UnspecifiedMatching -OMIM:603375 SMARCA5 skos:exactMatch ncbigene:8467 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch UMLS:C1420140 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:10969 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:SLC22A5 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch ncbigene:6584 semapv:UnspecifiedMatching -OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:10532 semapv:UnspecifiedMatching -OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:SAP30 semapv:UnspecifiedMatching -OMIM:603378 SAP30 skos:exactMatch ncbigene:8819 semapv:UnspecifiedMatching -OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:6110 semapv:UnspecifiedMatching -OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:IQGAP1 semapv:UnspecifiedMatching -OMIM:603379 IQGAP1 skos:exactMatch ncbigene:8826 semapv:UnspecifiedMatching -OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:17787 semapv:UnspecifiedMatching -OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:LIN7A semapv:UnspecifiedMatching -OMIM:603380 LIN7A skos:exactMatch ncbigene:8825 semapv:UnspecifiedMatching -OMIM:603381 FLNB skos:exactMatch hgnc.symbol:3755 semapv:UnspecifiedMatching -OMIM:603381 FLNB skos:exactMatch hgnc.symbol:FLNB semapv:UnspecifiedMatching -OMIM:603381 FLNB skos:exactMatch ncbigene:2317 semapv:UnspecifiedMatching -OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:7328 semapv:UnspecifiedMatching -OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:MSH5 semapv:UnspecifiedMatching -OMIM:603382 MSH5 skos:exactMatch ncbigene:4439 semapv:UnspecifiedMatching -OMIM:603383 glaucoma 1, open angle, f skos:exactMatch UMLS:C1863926 semapv:UnspecifiedMatching -OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:11497 semapv:UnspecifiedMatching -OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:SYNGAP1 semapv:UnspecifiedMatching -OMIM:603384 SYNGAP1 skos:exactMatch ncbigene:8831 semapv:UnspecifiedMatching -OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:621 semapv:UnspecifiedMatching -OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:NAE1 semapv:UnspecifiedMatching -OMIM:603385 NAE1 skos:exactMatch ncbigene:8883 semapv:UnspecifiedMatching -OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:8794 semapv:UnspecifiedMatching -OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:PDE8B semapv:UnspecifiedMatching -OMIM:603390 PDE8B skos:exactMatch ncbigene:8622 semapv:UnspecifiedMatching -OMIM:603392 BIK skos:exactMatch hgnc.symbol:1051 semapv:UnspecifiedMatching -OMIM:603392 BIK skos:exactMatch hgnc.symbol:BIK semapv:UnspecifiedMatching -OMIM:603392 BIK skos:exactMatch ncbigene:638 semapv:UnspecifiedMatching -OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:11212 semapv:UnspecifiedMatching -OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:SPAG1 semapv:UnspecifiedMatching -OMIM:603395 SPAG1 skos:exactMatch ncbigene:6674 semapv:UnspecifiedMatching -OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:13076 semapv:UnspecifiedMatching -OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:ZNF282 semapv:UnspecifiedMatching -OMIM:603397 ZNF282 skos:exactMatch ncbigene:8427 semapv:UnspecifiedMatching -OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:12769 semapv:UnspecifiedMatching -OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:CCN4 semapv:UnspecifiedMatching -OMIM:603398 CCN4 skos:exactMatch ncbigene:8840 semapv:UnspecifiedMatching -OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:12770 semapv:UnspecifiedMatching -OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:CCN5 semapv:UnspecifiedMatching -OMIM:603399 CCN5 skos:exactMatch ncbigene:8839 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch UMLS:C1421509 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch UMLS:C5436955 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:12771 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:CCN6 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch ncbigene:8838 semapv:UnspecifiedMatching -OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:566 semapv:UnspecifiedMatching -OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:AP3B1 semapv:UnspecifiedMatching -OMIM:603401 AP3B1 skos:exactMatch ncbigene:8546 semapv:UnspecifiedMatching -OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:121 semapv:UnspecifiedMatching -OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:ACOX3 semapv:UnspecifiedMatching -OMIM:603402 ACOX3 skos:exactMatch ncbigene:8310 semapv:UnspecifiedMatching -OMIM:603403 DHX15 skos:exactMatch UMLS:C1413955 semapv:UnspecifiedMatching -OMIM:603403 DHX15 skos:exactMatch hgnc.symbol:2738 semapv:UnspecifiedMatching -OMIM:603403 DHX15 skos:exactMatch hgnc.symbol:DHX15 semapv:UnspecifiedMatching -OMIM:603403 DHX15 skos:exactMatch ncbigene:1665 semapv:UnspecifiedMatching -OMIM:603404 ZNF169 skos:exactMatch hgnc.symbol:12957 semapv:UnspecifiedMatching -OMIM:603404 ZNF169 skos:exactMatch hgnc.symbol:ZNF169 semapv:UnspecifiedMatching -OMIM:603404 ZNF169 skos:exactMatch ncbigene:169841 semapv:UnspecifiedMatching -OMIM:603405 DHX16 skos:exactMatch UMLS:C1333208 semapv:UnspecifiedMatching -OMIM:603405 DHX16 skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching -OMIM:603405 DHX16 skos:exactMatch hgnc.symbol:2739 semapv:UnspecifiedMatching -OMIM:603405 DHX16 skos:exactMatch hgnc.symbol:DHX16 semapv:UnspecifiedMatching -OMIM:603405 DHX16 skos:exactMatch ncbigene:8449 semapv:UnspecifiedMatching -OMIM:603406 TRIM24 skos:exactMatch hgnc.symbol:11812 semapv:UnspecifiedMatching -OMIM:603406 TRIM24 skos:exactMatch hgnc.symbol:TRIM24 semapv:UnspecifiedMatching -OMIM:603406 TRIM24 skos:exactMatch ncbigene:8805 semapv:UnspecifiedMatching -OMIM:603407 PABPC4 skos:exactMatch hgnc.symbol:8557 semapv:UnspecifiedMatching -OMIM:603407 PABPC4 skos:exactMatch hgnc.symbol:PABPC4 semapv:UnspecifiedMatching -OMIM:603407 PABPC4 skos:exactMatch ncbigene:8761 semapv:UnspecifiedMatching -OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:4038 semapv:UnspecifiedMatching -OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:FZD1 semapv:UnspecifiedMatching -OMIM:603408 FZD1 skos:exactMatch ncbigene:8321 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch UMLS:C1333587 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:4044 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:FZD6 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch ncbigene:8323 semapv:UnspecifiedMatching -OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:4045 semapv:UnspecifiedMatching -OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:FZD7 semapv:UnspecifiedMatching -OMIM:603410 FZD7 skos:exactMatch ncbigene:8324 semapv:UnspecifiedMatching -OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:1737 semapv:UnspecifiedMatching -OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:CDC42BPA semapv:UnspecifiedMatching -OMIM:603412 CDC42BPA skos:exactMatch ncbigene:8476 semapv:UnspecifiedMatching -OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:11804 semapv:UnspecifiedMatching -OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:TIAL1 semapv:UnspecifiedMatching -OMIM:603413 TIAL1 skos:exactMatch ncbigene:7073 semapv:UnspecifiedMatching -OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:11863 semapv:UnspecifiedMatching -OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:TM7SF2 semapv:UnspecifiedMatching -OMIM:603414 TM7SF2 skos:exactMatch ncbigene:7108 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C1419867 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C1833661 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C4012054 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:10597 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:SCN9A semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch ncbigene:6335 semapv:UnspecifiedMatching -OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:10314 semapv:UnspecifiedMatching -OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:RPL21P1 semapv:UnspecifiedMatching -OMIM:603417 RABIF skos:exactMatch hgnc.symbol:9797 semapv:UnspecifiedMatching -OMIM:603417 RABIF skos:exactMatch hgnc.symbol:RABIF semapv:UnspecifiedMatching -OMIM:603417 RABIF skos:exactMatch ncbigene:5877 semapv:UnspecifiedMatching -OMIM:603418 AKR7A2 skos:exactMatch hgnc.symbol:389 semapv:UnspecifiedMatching -OMIM:603418 AKR7A2 skos:exactMatch hgnc.symbol:AKR7A2 semapv:UnspecifiedMatching -OMIM:603418 AKR7A2 skos:exactMatch ncbigene:8574 semapv:UnspecifiedMatching -OMIM:603419 SGTA skos:exactMatch hgnc.symbol:10819 semapv:UnspecifiedMatching -OMIM:603419 SGTA skos:exactMatch hgnc.symbol:SGTA semapv:UnspecifiedMatching -OMIM:603419 SGTA skos:exactMatch ncbigene:6449 semapv:UnspecifiedMatching -OMIM:603420 CALU skos:exactMatch hgnc.symbol:1458 semapv:UnspecifiedMatching -OMIM:603420 CALU skos:exactMatch hgnc.symbol:CALU semapv:UnspecifiedMatching -OMIM:603420 CALU skos:exactMatch ncbigene:813 semapv:UnspecifiedMatching -OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:11866 semapv:UnspecifiedMatching -OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:TMEFF1 semapv:UnspecifiedMatching -OMIM:603421 TMEFF1 skos:exactMatch ncbigene:8577 semapv:UnspecifiedMatching -OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:16501 semapv:UnspecifiedMatching -OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:PDLIM4 semapv:UnspecifiedMatching -OMIM:603422 PDLIM4 skos:exactMatch ncbigene:8572 semapv:UnspecifiedMatching -OMIM:603423 PRDM1 skos:exactMatch UMLS:C1335253 semapv:UnspecifiedMatching -OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:9346 semapv:UnspecifiedMatching -OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:PRDM1 semapv:UnspecifiedMatching -OMIM:603423 PRDM1 skos:exactMatch ncbigene:639 semapv:UnspecifiedMatching -OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:9438 semapv:UnspecifiedMatching -OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:PRKRA semapv:UnspecifiedMatching -OMIM:603424 PRKRA skos:exactMatch ncbigene:8575 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch UMLS:C1412536 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:692 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:ARL1 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch ncbigene:400 semapv:UnspecifiedMatching -OMIM:603426 PER2 skos:exactMatch hgnc.symbol:8846 semapv:UnspecifiedMatching -OMIM:603426 PER2 skos:exactMatch hgnc.symbol:PER2 semapv:UnspecifiedMatching -OMIM:603426 PER2 skos:exactMatch ncbigene:8864 semapv:UnspecifiedMatching -OMIM:603427 PER3 skos:exactMatch hgnc.symbol:8847 semapv:UnspecifiedMatching -OMIM:603427 PER3 skos:exactMatch hgnc.symbol:PER3 semapv:UnspecifiedMatching -OMIM:603427 PER3 skos:exactMatch ncbigene:8863 semapv:UnspecifiedMatching -OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:12998 semapv:UnspecifiedMatching -OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:ZNF207 semapv:UnspecifiedMatching -OMIM:603428 ZNF207 skos:exactMatch ncbigene:7756 semapv:UnspecifiedMatching -OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:70 semapv:UnspecifiedMatching -OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:ABCF1 semapv:UnspecifiedMatching -OMIM:603429 ABCF1 skos:exactMatch ncbigene:23 semapv:UnspecifiedMatching -OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:12994 semapv:UnspecifiedMatching -OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:ZNF202 semapv:UnspecifiedMatching -OMIM:603430 ZNF202 skos:exactMatch ncbigene:7753 semapv:UnspecifiedMatching -OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:12741 semapv:UnspecifiedMatching -OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:EIF4H semapv:UnspecifiedMatching -OMIM:603431 EIF4H skos:exactMatch ncbigene:7458 semapv:UnspecifiedMatching -OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:2586 semapv:UnspecifiedMatching -OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:CLIP2 semapv:UnspecifiedMatching -OMIM:603432 CLIP2 skos:exactMatch ncbigene:7461 semapv:UnspecifiedMatching -OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:12928 semapv:UnspecifiedMatching -OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:ZNF143 semapv:UnspecifiedMatching -OMIM:603433 ZNF143 skos:exactMatch ncbigene:7702 semapv:UnspecifiedMatching -OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:8822 semapv:UnspecifiedMatching -OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:PEA15 semapv:UnspecifiedMatching -OMIM:603434 PEA15 skos:exactMatch ncbigene:8682 semapv:UnspecifiedMatching -OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:4557 semapv:UnspecifiedMatching -OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:GPX5 semapv:UnspecifiedMatching -OMIM:603435 GPX5 skos:exactMatch ncbigene:2880 semapv:UnspecifiedMatching -OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:12996 semapv:UnspecifiedMatching -OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:ZNF205 semapv:UnspecifiedMatching -OMIM:603436 ZNF205 skos:exactMatch ncbigene:7755 semapv:UnspecifiedMatching -OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:2428 semapv:UnspecifiedMatching -OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:YBX3 semapv:UnspecifiedMatching -OMIM:603437 YBX3 skos:exactMatch ncbigene:8531 semapv:UnspecifiedMatching -OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:8750 semapv:UnspecifiedMatching -OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:CDK17 semapv:UnspecifiedMatching -OMIM:603440 CDK17 skos:exactMatch ncbigene:5128 semapv:UnspecifiedMatching -OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:1781 semapv:UnspecifiedMatching -OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:CDKL1 semapv:UnspecifiedMatching -OMIM:603441 CDKL1 skos:exactMatch ncbigene:8814 semapv:UnspecifiedMatching -OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:1782 semapv:UnspecifiedMatching -OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:CDKL2 semapv:UnspecifiedMatching -OMIM:603442 CDKL2 skos:exactMatch ncbigene:8999 semapv:UnspecifiedMatching -OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:10518 semapv:UnspecifiedMatching -OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:VPS52 semapv:UnspecifiedMatching -OMIM:603443 VPS52 skos:exactMatch ncbigene:6293 semapv:UnspecifiedMatching -OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:4004 semapv:UnspecifiedMatching -OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:FUBP1 semapv:UnspecifiedMatching -OMIM:603444 FUBP1 skos:exactMatch ncbigene:8880 semapv:UnspecifiedMatching -OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:6316 semapv:UnspecifiedMatching -OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:KHSRP semapv:UnspecifiedMatching -OMIM:603445 KHSRP skos:exactMatch ncbigene:8570 semapv:UnspecifiedMatching -OMIM:603447 HRK skos:exactMatch hgnc.symbol:5185 semapv:UnspecifiedMatching -OMIM:603447 HRK skos:exactMatch hgnc.symbol:HRK semapv:UnspecifiedMatching -OMIM:603447 HRK skos:exactMatch ncbigene:8739 semapv:UnspecifiedMatching -OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:2661 semapv:UnspecifiedMatching -OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:DAB1 semapv:UnspecifiedMatching -OMIM:603448 DAB1 skos:exactMatch ncbigene:1600 semapv:UnspecifiedMatching -OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:10474 semapv:UnspecifiedMatching -OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:RUVBL1 semapv:UnspecifiedMatching -OMIM:603449 RUVBL1 skos:exactMatch ncbigene:8607 semapv:UnspecifiedMatching -OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:6533 semapv:UnspecifiedMatching -OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:LDB2 semapv:UnspecifiedMatching -OMIM:603450 LDB2 skos:exactMatch ncbigene:9079 semapv:UnspecifiedMatching -OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:6532 semapv:UnspecifiedMatching -OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:LDB1 semapv:UnspecifiedMatching -OMIM:603451 LDB1 skos:exactMatch ncbigene:8861 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch UMLS:C1335623 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:10019 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:RIPK1 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch ncbigene:8737 semapv:UnspecifiedMatching -OMIM:603454 CRADD skos:exactMatch hgnc.symbol:2340 semapv:UnspecifiedMatching -OMIM:603454 CRADD skos:exactMatch hgnc.symbol:CRADD semapv:UnspecifiedMatching -OMIM:603454 CRADD skos:exactMatch ncbigene:8738 semapv:UnspecifiedMatching -OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:10020 semapv:UnspecifiedMatching -OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:RIPK2 semapv:UnspecifiedMatching -OMIM:603455 RIPK2 skos:exactMatch ncbigene:8767 semapv:UnspecifiedMatching -OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:3004 semapv:UnspecifiedMatching -OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:DPH2 semapv:UnspecifiedMatching -OMIM:603456 DPH2 skos:exactMatch ncbigene:1802 semapv:UnspecifiedMatching -OMIM:603458 ELAVL3 skos:exactMatch UMLS:C1414373 semapv:UnspecifiedMatching -OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:3314 semapv:UnspecifiedMatching -OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:ELAVL3 semapv:UnspecifiedMatching -OMIM:603458 ELAVL3 skos:exactMatch ncbigene:1995 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch UMLS:C1413285 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:1775 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:CDK5R1 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch ncbigene:8851 semapv:UnspecifiedMatching -OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:1720 semapv:UnspecifiedMatching -OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:CDC16 semapv:UnspecifiedMatching -OMIM:603461 CDC16 skos:exactMatch ncbigene:8881 semapv:UnspecifiedMatching -OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:1724 semapv:UnspecifiedMatching -OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:CDC23 semapv:UnspecifiedMatching -OMIM:603462 CDC23 skos:exactMatch ncbigene:8697 semapv:UnspecifiedMatching -OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:1770 semapv:UnspecifiedMatching -OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:CDK10 semapv:UnspecifiedMatching -OMIM:603464 CDK10 skos:exactMatch ncbigene:8558 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch UMLS:C1332724 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch UMLS:C4310738 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:1739 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:CDC45 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch ncbigene:8318 semapv:UnspecifiedMatching -OMIM:603466 ELAVL1 skos:exactMatch UMLS:C1414371 semapv:UnspecifiedMatching -OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:3312 semapv:UnspecifiedMatching -OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:ELAVL1 semapv:UnspecifiedMatching -OMIM:603466 ELAVL1 skos:exactMatch ncbigene:1994 semapv:UnspecifiedMatching -OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:758 semapv:UnspecifiedMatching -OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:ASS1 semapv:UnspecifiedMatching -OMIM:603470 ASS1 skos:exactMatch ncbigene:445 semapv:UnspecifiedMatching -OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 semapv:UnspecifiedMatching -OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching -OMIM:603473 LATS1 skos:exactMatch UMLS:C1367460 semapv:UnspecifiedMatching -OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:6514 semapv:UnspecifiedMatching -OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:LATS1 semapv:UnspecifiedMatching -OMIM:603473 LATS1 skos:exactMatch ncbigene:9113 semapv:UnspecifiedMatching -OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:10402 semapv:UnspecifiedMatching -OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:RPS19 semapv:UnspecifiedMatching -OMIM:603474 RPS19 skos:exactMatch ncbigene:6223 semapv:UnspecifiedMatching -OMIM:603475 CHRD skos:exactMatch hgnc.symbol:1949 semapv:UnspecifiedMatching -OMIM:603475 CHRD skos:exactMatch hgnc.symbol:CHRD semapv:UnspecifiedMatching -OMIM:603475 CHRD skos:exactMatch ncbigene:8646 semapv:UnspecifiedMatching -OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:2350 semapv:UnspecifiedMatching -OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:CREBL2 semapv:UnspecifiedMatching -OMIM:603476 CREBL2 skos:exactMatch ncbigene:1389 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch UMLS:C1823197 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:29629 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:BUD31 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch ncbigene:8896 semapv:UnspecifiedMatching -OMIM:603478 USP1 skos:exactMatch hgnc.symbol:12607 semapv:UnspecifiedMatching -OMIM:603478 USP1 skos:exactMatch hgnc.symbol:USP1 semapv:UnspecifiedMatching -OMIM:603478 USP1 skos:exactMatch ncbigene:7398 semapv:UnspecifiedMatching -OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:3154 semapv:UnspecifiedMatching -OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:ECM2 semapv:UnspecifiedMatching -OMIM:603479 ECM2 skos:exactMatch ncbigene:1842 semapv:UnspecifiedMatching -OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:9558 semapv:UnspecifiedMatching -OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:PSMD13 semapv:UnspecifiedMatching -OMIM:603481 PSMD13 skos:exactMatch ncbigene:5719 semapv:UnspecifiedMatching -OMIM:603482 BTRC skos:exactMatch hgnc.symbol:1144 semapv:UnspecifiedMatching -OMIM:603482 BTRC skos:exactMatch hgnc.symbol:BTRC semapv:UnspecifiedMatching -OMIM:603482 BTRC skos:exactMatch ncbigene:8945 semapv:UnspecifiedMatching -OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:3290 semapv:UnspecifiedMatching -OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:EIF4EBP3 semapv:UnspecifiedMatching -OMIM:603483 EIF4EBP3 skos:exactMatch ncbigene:8637 semapv:UnspecifiedMatching -OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:9341 semapv:UnspecifiedMatching -OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:PRC1 semapv:UnspecifiedMatching -OMIM:603484 PRC1 skos:exactMatch ncbigene:9055 semapv:UnspecifiedMatching -OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:15910 semapv:UnspecifiedMatching -OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:NFS1 semapv:UnspecifiedMatching -OMIM:603485 NFS1 skos:exactMatch ncbigene:9054 semapv:UnspecifiedMatching -OMIM:603486 USP4 skos:exactMatch hgnc.symbol:12627 semapv:UnspecifiedMatching -OMIM:603486 USP4 skos:exactMatch hgnc.symbol:USP4 semapv:UnspecifiedMatching -OMIM:603486 USP4 skos:exactMatch ncbigene:7375 semapv:UnspecifiedMatching -OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:7571 semapv:UnspecifiedMatching -OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:MYH13 semapv:UnspecifiedMatching -OMIM:603487 MYH13 skos:exactMatch ncbigene:8735 semapv:UnspecifiedMatching -OMIM:603488 AAMP skos:exactMatch hgnc.symbol:18 semapv:UnspecifiedMatching -OMIM:603488 AAMP skos:exactMatch hgnc.symbol:AAMP semapv:UnspecifiedMatching -OMIM:603488 AAMP skos:exactMatch ncbigene:14 semapv:UnspecifiedMatching -OMIM:603489 CILP skos:exactMatch hgnc.symbol:1980 semapv:UnspecifiedMatching -OMIM:603489 CILP skos:exactMatch hgnc.symbol:CILP semapv:UnspecifiedMatching -OMIM:603489 CILP skos:exactMatch ncbigene:8483 semapv:UnspecifiedMatching -OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:12783 semapv:UnspecifiedMatching -OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:WNT4 semapv:UnspecifiedMatching -OMIM:603490 WNT4 skos:exactMatch ncbigene:54361 semapv:UnspecifiedMatching -OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:5950 semapv:UnspecifiedMatching -OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:IGSF3 semapv:UnspecifiedMatching -OMIM:603491 IGSF3 skos:exactMatch ncbigene:3321 semapv:UnspecifiedMatching -OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:10903 semapv:UnspecifiedMatching -OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:SLAMF1 semapv:UnspecifiedMatching -OMIM:603492 SLAMF1 skos:exactMatch ncbigene:6504 semapv:UnspecifiedMatching -OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:6280 semapv:UnspecifiedMatching -OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:KCNK5 semapv:UnspecifiedMatching -OMIM:603493 KCNK5 skos:exactMatch ncbigene:8645 semapv:UnspecifiedMatching -OMIM:603494 URI1 skos:exactMatch hgnc.symbol:13236 semapv:UnspecifiedMatching -OMIM:603494 URI1 skos:exactMatch hgnc.symbol:URI1 semapv:UnspecifiedMatching -OMIM:603494 URI1 skos:exactMatch ncbigene:8725 semapv:UnspecifiedMatching -OMIM:603495 AURKC skos:exactMatch UMLS:C0403812 semapv:UnspecifiedMatching -OMIM:603495 AURKC skos:exactMatch UMLS:C1420465 semapv:UnspecifiedMatching -OMIM:603495 AURKC skos:exactMatch hgnc.symbol:11391 semapv:UnspecifiedMatching -OMIM:603495 AURKC skos:exactMatch hgnc.symbol:AURKC semapv:UnspecifiedMatching -OMIM:603495 AURKC skos:exactMatch ncbigene:6795 semapv:UnspecifiedMatching -OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:3093 semapv:UnspecifiedMatching -OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:DYRK2 semapv:UnspecifiedMatching -OMIM:603496 DYRK2 skos:exactMatch ncbigene:8445 semapv:UnspecifiedMatching -OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:3094 semapv:UnspecifiedMatching -OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:DYRK3 semapv:UnspecifiedMatching -OMIM:603497 DYRK3 skos:exactMatch ncbigene:8444 semapv:UnspecifiedMatching -OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:11121 semapv:UnspecifiedMatching -OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:SMPD2 semapv:UnspecifiedMatching -OMIM:603498 SMPD2 skos:exactMatch ncbigene:6610 semapv:UnspecifiedMatching -OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:11908 semapv:UnspecifiedMatching -OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:TNFRSF11A semapv:UnspecifiedMatching -OMIM:603499 TNFRSF11A skos:exactMatch ncbigene:8792 semapv:UnspecifiedMatching -OMIM:603500 TRADD skos:exactMatch hgnc.symbol:12030 semapv:UnspecifiedMatching -OMIM:603500 TRADD skos:exactMatch hgnc.symbol:TRADD semapv:UnspecifiedMatching -OMIM:603500 TRADD skos:exactMatch ncbigene:8717 semapv:UnspecifiedMatching -OMIM:603501 PARG skos:exactMatch hgnc.symbol:8605 semapv:UnspecifiedMatching -OMIM:603501 PARG skos:exactMatch hgnc.symbol:PARG semapv:UnspecifiedMatching -OMIM:603501 PARG skos:exactMatch ncbigene:8505 semapv:UnspecifiedMatching -OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:5456 semapv:UnspecifiedMatching -OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:IFRD1 semapv:UnspecifiedMatching -OMIM:603502 IFRD1 skos:exactMatch ncbigene:3475 semapv:UnspecifiedMatching -OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:3005 semapv:UnspecifiedMatching -OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:DPM1 semapv:UnspecifiedMatching -OMIM:603503 DPM1 skos:exactMatch ncbigene:8813 semapv:UnspecifiedMatching -OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:1718 semapv:UnspecifiedMatching -OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:CDC14A semapv:UnspecifiedMatching -OMIM:603504 CDC14A skos:exactMatch ncbigene:8556 semapv:UnspecifiedMatching -OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:1719 semapv:UnspecifiedMatching -OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:CDC14B semapv:UnspecifiedMatching -OMIM:603505 CDC14B skos:exactMatch ncbigene:8555 semapv:UnspecifiedMatching -OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:6697 semapv:UnspecifiedMatching -OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:LRP5 semapv:UnspecifiedMatching -OMIM:603506 LRP5 skos:exactMatch ncbigene:4041 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch UMLS:C1416918 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch UMLS:C1970440 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch UMLS:C4225231 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:6698 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:LRP6 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch ncbigene:4040 semapv:UnspecifiedMatching -OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:7613 semapv:UnspecifiedMatching -OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:MYOM1 semapv:UnspecifiedMatching -OMIM:603508 MYOM1 skos:exactMatch ncbigene:8736 semapv:UnspecifiedMatching -OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:7614 semapv:UnspecifiedMatching -OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:MYOM2 semapv:UnspecifiedMatching -OMIM:603509 MYOM2 skos:exactMatch ncbigene:9172 semapv:UnspecifiedMatching -OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:10073 semapv:UnspecifiedMatching -OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:RNGTT semapv:UnspecifiedMatching -OMIM:603512 RNGTT skos:exactMatch ncbigene:8732 semapv:UnspecifiedMatching -OMIM:603514 RNMT skos:exactMatch hgnc.symbol:10075 semapv:UnspecifiedMatching -OMIM:603514 RNMT skos:exactMatch hgnc.symbol:RNMT semapv:UnspecifiedMatching -OMIM:603514 RNMT skos:exactMatch ncbigene:8731 semapv:UnspecifiedMatching -OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:2442 semapv:UnspecifiedMatching -OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:CSHL1 semapv:UnspecifiedMatching -OMIM:603515 CSHL1 skos:exactMatch ncbigene:1444 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C1367449 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C3276200 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4015195 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016841 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016842 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016843 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016844 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016845 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch UMLS:C4016846 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:989 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:BCL10 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch ncbigene:8915 semapv:UnspecifiedMatching -OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:11802 semapv:UnspecifiedMatching -OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:TIA1 semapv:UnspecifiedMatching -OMIM:603518 TIA1 skos:exactMatch ncbigene:7072 semapv:UnspecifiedMatching -OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:16900 semapv:UnspecifiedMatching -OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:SMNDC1 semapv:UnspecifiedMatching -OMIM:603519 SMNDC1 skos:exactMatch ncbigene:10285 semapv:UnspecifiedMatching -OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:11155 semapv:UnspecifiedMatching -OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:SNRPB2 semapv:UnspecifiedMatching -OMIM:603520 SNRPB2 skos:exactMatch ncbigene:6629 semapv:UnspecifiedMatching -OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:11152 semapv:UnspecifiedMatching -OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:SNRPA1 semapv:UnspecifiedMatching -OMIM:603521 SNRPA1 skos:exactMatch ncbigene:6627 semapv:UnspecifiedMatching -OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:11157 semapv:UnspecifiedMatching -OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:SNRPC semapv:UnspecifiedMatching -OMIM:603522 SNRPC skos:exactMatch ncbigene:6631 semapv:UnspecifiedMatching -OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:1914 semapv:UnspecifiedMatching -OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:RCBTB2 semapv:UnspecifiedMatching -OMIM:603524 RCBTB2 skos:exactMatch ncbigene:1102 semapv:UnspecifiedMatching -OMIM:603525 NMI skos:exactMatch hgnc.symbol:7854 semapv:UnspecifiedMatching -OMIM:603525 NMI skos:exactMatch hgnc.symbol:NMI semapv:UnspecifiedMatching -OMIM:603525 NMI skos:exactMatch ncbigene:9111 semapv:UnspecifiedMatching -OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:7410 semapv:UnspecifiedMatching -OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:MTA1 semapv:UnspecifiedMatching -OMIM:603526 MTA1 skos:exactMatch ncbigene:9112 semapv:UnspecifiedMatching -OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:3003 semapv:UnspecifiedMatching -OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:DPH1 semapv:UnspecifiedMatching -OMIM:603527 DPH1 skos:exactMatch ncbigene:1801 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch UMLS:C1412439 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:559 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:AP1S1 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch ncbigene:1174 semapv:UnspecifiedMatching -OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:555 semapv:UnspecifiedMatching -OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:AP1G1 semapv:UnspecifiedMatching -OMIM:603533 AP1G1 skos:exactMatch ncbigene:164 semapv:UnspecifiedMatching -OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:556 semapv:UnspecifiedMatching -OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:AP1G2 semapv:UnspecifiedMatching -OMIM:603534 AP1G2 skos:exactMatch ncbigene:8906 semapv:UnspecifiedMatching -OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:13667 semapv:UnspecifiedMatching -OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:AP1M1 semapv:UnspecifiedMatching -OMIM:603535 AP1M1 skos:exactMatch ncbigene:8907 semapv:UnspecifiedMatching -OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:4005 semapv:UnspecifiedMatching -OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:FUBP3 semapv:UnspecifiedMatching -OMIM:603536 FUBP3 skos:exactMatch ncbigene:8939 semapv:UnspecifiedMatching -OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:6298 semapv:UnspecifiedMatching -OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:KCNQ4 semapv:UnspecifiedMatching -OMIM:603537 KCNQ4 skos:exactMatch ncbigene:9132 semapv:UnspecifiedMatching -OMIM:603538 KMO skos:exactMatch hgnc.symbol:6381 semapv:UnspecifiedMatching -OMIM:603538 KMO skos:exactMatch hgnc.symbol:KMO semapv:UnspecifiedMatching -OMIM:603538 KMO skos:exactMatch ncbigene:8564 semapv:UnspecifiedMatching -OMIM:603539 CTSF skos:exactMatch hgnc.symbol:2531 semapv:UnspecifiedMatching -OMIM:603539 CTSF skos:exactMatch hgnc.symbol:CTSF semapv:UnspecifiedMatching -OMIM:603539 CTSF skos:exactMatch ncbigene:8722 semapv:UnspecifiedMatching -OMIM:603540 GABBR1 skos:exactMatch UMLS:C1414904 semapv:UnspecifiedMatching -OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:4070 semapv:UnspecifiedMatching -OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:GABBR1 semapv:UnspecifiedMatching -OMIM:603540 GABBR1 skos:exactMatch ncbigene:2550 semapv:UnspecifiedMatching -OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:11162 semapv:UnspecifiedMatching -OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:SNRPF semapv:UnspecifiedMatching -OMIM:603541 SNRPF skos:exactMatch ncbigene:6636 semapv:UnspecifiedMatching -OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:11163 semapv:UnspecifiedMatching -OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:SNRPG semapv:UnspecifiedMatching -OMIM:603542 SNRPG skos:exactMatch ncbigene:6637 semapv:UnspecifiedMatching -OMIM:603543 limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching -OMIM:603543 limb-mammary syndrome skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching -OMIM:603544 CCNK skos:exactMatch hgnc.symbol:1596 semapv:UnspecifiedMatching -OMIM:603544 CCNK skos:exactMatch hgnc.symbol:CCNK semapv:UnspecifiedMatching -OMIM:603544 CCNK skos:exactMatch ncbigene:8812 semapv:UnspecifiedMatching -OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:6917 semapv:UnspecifiedMatching -OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:MBD2 semapv:UnspecifiedMatching -OMIM:603547 MBD2 skos:exactMatch ncbigene:8932 semapv:UnspecifiedMatching -OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:1800 semapv:UnspecifiedMatching -OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:CDS1 semapv:UnspecifiedMatching -OMIM:603548 CDS1 skos:exactMatch ncbigene:1040 semapv:UnspecifiedMatching -OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:1801 semapv:UnspecifiedMatching -OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:CDS2 semapv:UnspecifiedMatching -OMIM:603549 CDS2 skos:exactMatch ncbigene:8760 semapv:UnspecifiedMatching -OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:3522 semapv:UnspecifiedMatching -OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:EYA4 semapv:UnspecifiedMatching -OMIM:603550 EYA4 skos:exactMatch ncbigene:2070 semapv:UnspecifiedMatching -OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:5321 semapv:UnspecifiedMatching -OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:HYAL2 semapv:UnspecifiedMatching -OMIM:603551 HYAL2 skos:exactMatch ncbigene:8692 semapv:UnspecifiedMatching -OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching -OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch UMLS:C1863728 semapv:UnspecifiedMatching -OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching -OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch UMLS:C1863727 semapv:UnspecifiedMatching -OMIM:603554 omenn syndrome skos:exactMatch Orphanet:39041 semapv:UnspecifiedMatching -OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching -OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2931884 semapv:UnspecifiedMatching -OMIM:603555 SUPT4H1 skos:exactMatch UMLS:C1420523 semapv:UnspecifiedMatching -OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:11467 semapv:UnspecifiedMatching -OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:SUPT4H1 semapv:UnspecifiedMatching -OMIM:603555 SUPT4H1 skos:exactMatch ncbigene:6827 semapv:UnspecifiedMatching -OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:7450 semapv:UnspecifiedMatching -OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:MTMR2 semapv:UnspecifiedMatching -OMIM:603557 MTMR2 skos:exactMatch ncbigene:8898 semapv:UnspecifiedMatching -OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:7451 semapv:UnspecifiedMatching -OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:MTMR3 semapv:UnspecifiedMatching -OMIM:603558 MTMR3 skos:exactMatch ncbigene:8897 semapv:UnspecifiedMatching -OMIM:603559 MTMR4 skos:exactMatch hgnc.symbol:7452 semapv:UnspecifiedMatching -OMIM:603559 MTMR4 skos:exactMatch hgnc.symbol:MTMR4 semapv:UnspecifiedMatching -OMIM:603559 MTMR4 skos:exactMatch ncbigene:9110 semapv:UnspecifiedMatching -OMIM:603560 SBF1 skos:exactMatch hgnc.symbol:10542 semapv:UnspecifiedMatching -OMIM:603560 SBF1 skos:exactMatch hgnc.symbol:SBF1 semapv:UnspecifiedMatching -OMIM:603560 SBF1 skos:exactMatch ncbigene:6305 semapv:UnspecifiedMatching -OMIM:603561 MTMR6 skos:exactMatch hgnc.symbol:7453 semapv:UnspecifiedMatching -OMIM:603561 MTMR6 skos:exactMatch hgnc.symbol:MTMR6 semapv:UnspecifiedMatching -OMIM:603561 MTMR6 skos:exactMatch ncbigene:9107 semapv:UnspecifiedMatching -OMIM:603562 MTMR7 skos:exactMatch hgnc.symbol:7454 semapv:UnspecifiedMatching -OMIM:603562 MTMR7 skos:exactMatch hgnc.symbol:MTMR7 semapv:UnspecifiedMatching -OMIM:603562 MTMR7 skos:exactMatch ncbigene:9108 semapv:UnspecifiedMatching -OMIM:603564 DPM2 skos:exactMatch hgnc.symbol:3006 semapv:UnspecifiedMatching -OMIM:603564 DPM2 skos:exactMatch hgnc.symbol:DPM2 semapv:UnspecifiedMatching -OMIM:603564 DPM2 skos:exactMatch ncbigene:8818 semapv:UnspecifiedMatching -OMIM:603565 GALNT4 skos:exactMatch hgnc.symbol:4126 semapv:UnspecifiedMatching -OMIM:603565 GALNT4 skos:exactMatch hgnc.symbol:GALNT4 semapv:UnspecifiedMatching -OMIM:603565 GALNT4 skos:exactMatch ncbigene:8693 semapv:UnspecifiedMatching -OMIM:603566 PIAS1 skos:exactMatch hgnc.symbol:2752 semapv:UnspecifiedMatching -OMIM:603566 PIAS1 skos:exactMatch hgnc.symbol:PIAS1 semapv:UnspecifiedMatching -OMIM:603566 PIAS1 skos:exactMatch ncbigene:8554 semapv:UnspecifiedMatching -OMIM:603567 PIAS2 skos:exactMatch hgnc.symbol:17311 semapv:UnspecifiedMatching -OMIM:603567 PIAS2 skos:exactMatch hgnc.symbol:PIAS2 semapv:UnspecifiedMatching -OMIM:603567 PIAS2 skos:exactMatch ncbigene:9063 semapv:UnspecifiedMatching -OMIM:603568 RNU73 skos:exactMatch hgnc.symbol:10235 semapv:UnspecifiedMatching -OMIM:603568 RNU73 skos:exactMatch hgnc.symbol:SNORD73A semapv:UnspecifiedMatching -OMIM:603568 RNU73 skos:exactMatch ncbigene:8944 semapv:UnspecifiedMatching -OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:12705 semapv:UnspecifiedMatching -OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:VNN1 semapv:UnspecifiedMatching -OMIM:603570 VNN1 skos:exactMatch ncbigene:8876 semapv:UnspecifiedMatching -OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:12706 semapv:UnspecifiedMatching -OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:VNN2 semapv:UnspecifiedMatching -OMIM:603571 VNN2 skos:exactMatch ncbigene:8875 semapv:UnspecifiedMatching -OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:6918 semapv:UnspecifiedMatching -OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:MBD3 semapv:UnspecifiedMatching -OMIM:603573 MBD3 skos:exactMatch ncbigene:53615 semapv:UnspecifiedMatching -OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:6919 semapv:UnspecifiedMatching -OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:MBD4 semapv:UnspecifiedMatching -OMIM:603574 MBD4 skos:exactMatch ncbigene:8930 semapv:UnspecifiedMatching -OMIM:603575 NME5 skos:exactMatch UMLS:C1417744 semapv:UnspecifiedMatching -OMIM:603575 NME5 skos:exactMatch hgnc.symbol:7853 semapv:UnspecifiedMatching -OMIM:603575 NME5 skos:exactMatch hgnc.symbol:NME5 semapv:UnspecifiedMatching -OMIM:603575 NME5 skos:exactMatch ncbigene:8382 semapv:UnspecifiedMatching -OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:7146 semapv:UnspecifiedMatching -OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:TRPM1 semapv:UnspecifiedMatching -OMIM:603576 TRPM1 skos:exactMatch ncbigene:4308 semapv:UnspecifiedMatching -OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:7870 semapv:UnspecifiedMatching -OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:NOL4 semapv:UnspecifiedMatching -OMIM:603577 NOL4 skos:exactMatch ncbigene:8715 semapv:UnspecifiedMatching -OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:8524 semapv:UnspecifiedMatching -OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:OVGP1 semapv:UnspecifiedMatching -OMIM:603578 OVGP1 skos:exactMatch ncbigene:5016 semapv:UnspecifiedMatching -OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:11451 semapv:UnspecifiedMatching -OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:RIOK3 semapv:UnspecifiedMatching -OMIM:603579 RIOK3 skos:exactMatch ncbigene:8780 semapv:UnspecifiedMatching -OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:8660 semapv:UnspecifiedMatching -OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:PCDH8 semapv:UnspecifiedMatching -OMIM:603580 PCDH8 skos:exactMatch ncbigene:5100 semapv:UnspecifiedMatching -OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:8661 semapv:UnspecifiedMatching -OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:PCDH9 semapv:UnspecifiedMatching -OMIM:603581 PCDH9 skos:exactMatch ncbigene:5101 semapv:UnspecifiedMatching -OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:11993 semapv:UnspecifiedMatching -OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:TOP3B semapv:UnspecifiedMatching -OMIM:603582 TOP3B skos:exactMatch ncbigene:8940 semapv:UnspecifiedMatching -OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:2901 semapv:UnspecifiedMatching -OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:DLG2 semapv:UnspecifiedMatching -OMIM:603583 DLG2 skos:exactMatch ncbigene:1740 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch UMLS:C1366909 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch hgnc.symbol:6766 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch hgnc.symbol:MADD semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch ncbigene:8567 semapv:UnspecifiedMatching -OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch UMLS:C1970343 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch UMLS:C1416798 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:6511 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:LARGE1 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch ncbigene:9215 semapv:UnspecifiedMatching -OMIM:603591 USP13 skos:exactMatch hgnc.symbol:12611 semapv:UnspecifiedMatching -OMIM:603591 USP13 skos:exactMatch hgnc.symbol:USP13 semapv:UnspecifiedMatching -OMIM:603591 USP13 skos:exactMatch ncbigene:8975 semapv:UnspecifiedMatching -OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:11065 semapv:UnspecifiedMatching -OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:SLC7A7 semapv:UnspecifiedMatching -OMIM:603593 SLC7A7 skos:exactMatch ncbigene:9056 semapv:UnspecifiedMatching -OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:11934 semapv:UnspecifiedMatching -OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:TNFSF4 semapv:UnspecifiedMatching -OMIM:603594 TNFSF4 skos:exactMatch ncbigene:7292 semapv:UnspecifiedMatching -OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:19383 semapv:UnspecifiedMatching -OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:SOCS1 semapv:UnspecifiedMatching -OMIM:603597 SOCS1 skos:exactMatch ncbigene:8651 semapv:UnspecifiedMatching -OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:11925 semapv:UnspecifiedMatching -OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:TNFSF10 semapv:UnspecifiedMatching -OMIM:603598 TNFSF10 skos:exactMatch ncbigene:8743 semapv:UnspecifiedMatching -OMIM:603599 CFLAR skos:exactMatch UMLS:C1413357 semapv:UnspecifiedMatching -OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:1876 semapv:UnspecifiedMatching -OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:CFLAR semapv:UnspecifiedMatching -OMIM:603599 CFLAR skos:exactMatch ncbigene:8837 semapv:UnspecifiedMatching -OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:8971 semapv:UnspecifiedMatching -OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:PIK3C2A semapv:UnspecifiedMatching -OMIM:603601 PIK3C2A skos:exactMatch ncbigene:5286 semapv:UnspecifiedMatching -OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:9037 semapv:UnspecifiedMatching -OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:PLA2G4C semapv:UnspecifiedMatching -OMIM:603602 PLA2G4C skos:exactMatch ncbigene:8605 semapv:UnspecifiedMatching -OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:9029 semapv:UnspecifiedMatching -OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:PLA2G10 semapv:UnspecifiedMatching -OMIM:603603 PLA2G10 skos:exactMatch ncbigene:8399 semapv:UnspecifiedMatching -OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:9039 semapv:UnspecifiedMatching -OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:PLA2G6 semapv:UnspecifiedMatching -OMIM:603604 PLA2G6 skos:exactMatch ncbigene:8398 semapv:UnspecifiedMatching -OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:10648 semapv:UnspecifiedMatching -OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:AIMP1 semapv:UnspecifiedMatching -OMIM:603605 AIMP1 skos:exactMatch ncbigene:9255 semapv:UnspecifiedMatching -OMIM:603606 RPS6KA4 skos:exactMatch hgnc.symbol:10433 semapv:UnspecifiedMatching -OMIM:603606 RPS6KA4 skos:exactMatch hgnc.symbol:RPS6KA4 semapv:UnspecifiedMatching -OMIM:603606 RPS6KA4 skos:exactMatch ncbigene:8986 semapv:UnspecifiedMatching -OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:10434 semapv:UnspecifiedMatching -OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:RPS6KA5 semapv:UnspecifiedMatching -OMIM:603607 RPS6KA5 skos:exactMatch ncbigene:9252 semapv:UnspecifiedMatching -OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:1549 semapv:UnspecifiedMatching -OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:CBR3 semapv:UnspecifiedMatching -OMIM:603608 CBR3 skos:exactMatch ncbigene:874 semapv:UnspecifiedMatching -OMIM:603609 FPGT skos:exactMatch hgnc.symbol:3825 semapv:UnspecifiedMatching -OMIM:603609 FPGT skos:exactMatch hgnc.symbol:FPGT semapv:UnspecifiedMatching -OMIM:603609 FPGT skos:exactMatch ncbigene:8790 semapv:UnspecifiedMatching -OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:12569 semapv:UnspecifiedMatching -OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:UNC5C semapv:UnspecifiedMatching -OMIM:603610 UNC5C skos:exactMatch ncbigene:8633 semapv:UnspecifiedMatching -OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:11904 semapv:UnspecifiedMatching -OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:TNFRSF10A semapv:UnspecifiedMatching -OMIM:603611 TNFRSF10A skos:exactMatch ncbigene:8797 semapv:UnspecifiedMatching -OMIM:603612 TNFRSF10B skos:exactMatch hgnc.symbol:11905 semapv:UnspecifiedMatching -OMIM:603612 TNFRSF10B skos:exactMatch hgnc.symbol:TNFRSF10B semapv:UnspecifiedMatching -OMIM:603612 TNFRSF10B skos:exactMatch ncbigene:8795 semapv:UnspecifiedMatching -OMIM:603613 TNFRSF10C skos:exactMatch hgnc.symbol:11906 semapv:UnspecifiedMatching -OMIM:603613 TNFRSF10C skos:exactMatch hgnc.symbol:TNFRSF10C semapv:UnspecifiedMatching -OMIM:603613 TNFRSF10C skos:exactMatch ncbigene:8794 semapv:UnspecifiedMatching -OMIM:603614 TNFRSF10D skos:exactMatch hgnc.symbol:11907 semapv:UnspecifiedMatching -OMIM:603614 TNFRSF10D skos:exactMatch hgnc.symbol:TNFRSF10D semapv:UnspecifiedMatching -OMIM:603614 TNFRSF10D skos:exactMatch ncbigene:8793 semapv:UnspecifiedMatching -OMIM:603615 RAD54L skos:exactMatch hgnc.symbol:9826 semapv:UnspecifiedMatching -OMIM:603615 RAD54L skos:exactMatch hgnc.symbol:RAD54L semapv:UnspecifiedMatching -OMIM:603615 RAD54L skos:exactMatch ncbigene:8438 semapv:UnspecifiedMatching -OMIM:603616 RABEP1 skos:exactMatch hgnc.symbol:17677 semapv:UnspecifiedMatching -OMIM:603616 RABEP1 skos:exactMatch hgnc.symbol:RABEP1 semapv:UnspecifiedMatching -OMIM:603616 RABEP1 skos:exactMatch ncbigene:9135 semapv:UnspecifiedMatching -OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:10975 semapv:UnspecifiedMatching -OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:SLC24A1 semapv:UnspecifiedMatching -OMIM:603617 SLC24A1 skos:exactMatch ncbigene:9187 semapv:UnspecifiedMatching -OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:1723 semapv:UnspecifiedMatching -OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:CDC20 semapv:UnspecifiedMatching -OMIM:603618 CDC20 skos:exactMatch ncbigene:991 semapv:UnspecifiedMatching -OMIM:603619 FZR1 skos:exactMatch UMLS:C1428414 semapv:UnspecifiedMatching -OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:24824 semapv:UnspecifiedMatching -OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:FZR1 semapv:UnspecifiedMatching -OMIM:603619 FZR1 skos:exactMatch ncbigene:51343 semapv:UnspecifiedMatching -OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:9527 semapv:UnspecifiedMatching -OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:PSIP1 semapv:UnspecifiedMatching -OMIM:603620 PSIP1 skos:exactMatch ncbigene:11168 semapv:UnspecifiedMatching -OMIM:603621 FOXH1 skos:exactMatch hgnc.symbol:3814 semapv:UnspecifiedMatching -OMIM:603621 FOXH1 skos:exactMatch hgnc.symbol:FOXH1 semapv:UnspecifiedMatching -OMIM:603621 FOXH1 skos:exactMatch ncbigene:8928 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch UMLS:C1337037 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch UMLS:C1842237 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:12840 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:YARS1 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch ncbigene:8565 semapv:UnspecifiedMatching -OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:10404 semapv:UnspecifiedMatching -OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:RPS2 semapv:UnspecifiedMatching -OMIM:603624 RPS2 skos:exactMatch ncbigene:6187 semapv:UnspecifiedMatching -OMIM:603625 LY6H skos:exactMatch hgnc.symbol:6728 semapv:UnspecifiedMatching -OMIM:603625 LY6H skos:exactMatch hgnc.symbol:LY6H semapv:UnspecifiedMatching -OMIM:603625 LY6H skos:exactMatch ncbigene:4062 semapv:UnspecifiedMatching -OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:8655 semapv:UnspecifiedMatching -OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:PCDH1 semapv:UnspecifiedMatching -OMIM:603626 PCDH1 skos:exactMatch ncbigene:5097 semapv:UnspecifiedMatching -OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:8716 semapv:UnspecifiedMatching -OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:PCDHGC3 semapv:UnspecifiedMatching -OMIM:603627 PCDHGC3 skos:exactMatch ncbigene:5098 semapv:UnspecifiedMatching -OMIM:603628 MSC skos:exactMatch hgnc.symbol:7321 semapv:UnspecifiedMatching -OMIM:603628 MSC skos:exactMatch hgnc.symbol:MSC semapv:UnspecifiedMatching -OMIM:603628 MSC skos:exactMatch ncbigene:9242 semapv:UnspecifiedMatching -OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:10426 semapv:UnspecifiedMatching -OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:RPS5 semapv:UnspecifiedMatching -OMIM:603630 RPS5 skos:exactMatch ncbigene:6193 semapv:UnspecifiedMatching -OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:10442 semapv:UnspecifiedMatching -OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:RPS9 semapv:UnspecifiedMatching -OMIM:603631 RPS9 skos:exactMatch ncbigene:6203 semapv:UnspecifiedMatching -OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:10383 semapv:UnspecifiedMatching -OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:RPS10 semapv:UnspecifiedMatching -OMIM:603632 RPS10 skos:exactMatch ncbigene:6204 semapv:UnspecifiedMatching -OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:10419 semapv:UnspecifiedMatching -OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:RPS29 semapv:UnspecifiedMatching -OMIM:603633 RPS29 skos:exactMatch ncbigene:6235 semapv:UnspecifiedMatching -OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:10360 semapv:UnspecifiedMatching -OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:RPL5 semapv:UnspecifiedMatching -OMIM:603634 RPL5 skos:exactMatch ncbigene:6125 semapv:UnspecifiedMatching -OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:10144 semapv:UnspecifiedMatching -OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:SNORD21 semapv:UnspecifiedMatching -OMIM:603635 SNORD21 skos:exactMatch ncbigene:6083 semapv:UnspecifiedMatching -OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:10313 semapv:UnspecifiedMatching -OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:RPL21 semapv:UnspecifiedMatching -OMIM:603636 RPL21 skos:exactMatch ncbigene:6144 semapv:UnspecifiedMatching -OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:10329 semapv:UnspecifiedMatching -OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:RPL27A semapv:UnspecifiedMatching -OMIM:603637 RPL27A skos:exactMatch ncbigene:6157 semapv:UnspecifiedMatching -OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:10330 semapv:UnspecifiedMatching -OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:RPL28 semapv:UnspecifiedMatching -OMIM:603638 RPL28 skos:exactMatch ncbigene:6158 semapv:UnspecifiedMatching -OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:195 semapv:UnspecifiedMatching -OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:ADAM17 semapv:UnspecifiedMatching -OMIM:603639 ADAM17 skos:exactMatch ncbigene:6868 semapv:UnspecifiedMatching -OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:197 semapv:UnspecifiedMatching -OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:ADAM19 semapv:UnspecifiedMatching -OMIM:603640 ADAM19 skos:exactMatch ncbigene:8728 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch UMLS:C1419872 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:10603 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:SCO1 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch ncbigene:6341 semapv:UnspecifiedMatching -OMIM:603645 GATB skos:exactMatch UMLS:C1418468 semapv:UnspecifiedMatching -OMIM:603645 GATB skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching -OMIM:603645 GATB skos:exactMatch hgnc.symbol:8849 semapv:UnspecifiedMatching -OMIM:603645 GATB skos:exactMatch hgnc.symbol:GATB semapv:UnspecifiedMatching -OMIM:603645 GATB skos:exactMatch ncbigene:5188 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch UMLS:C1413632 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch hgnc.symbol:2263 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch hgnc.symbol:COX15 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch ncbigene:1355 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C0266006 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C1412777 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C1864002 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch UMLS:C4016851 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:1020 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:BCS1L semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch ncbigene:617 semapv:UnspecifiedMatching -OMIM:603648 COX11 skos:exactMatch hgnc.symbol:2261 semapv:UnspecifiedMatching -OMIM:603648 COX11 skos:exactMatch hgnc.symbol:COX11 semapv:UnspecifiedMatching -OMIM:603648 COX11 skos:exactMatch ncbigene:1353 semapv:UnspecifiedMatching -OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:970 semapv:UnspecifiedMatching -OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:BBS5 semapv:UnspecifiedMatching -OMIM:603650 BBS5 skos:exactMatch ncbigene:129880 semapv:UnspecifiedMatching -OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:12336 semapv:UnspecifiedMatching -OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:TRPC4 semapv:UnspecifiedMatching -OMIM:603651 TRPC4 skos:exactMatch ncbigene:7223 semapv:UnspecifiedMatching -OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:12338 semapv:UnspecifiedMatching -OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:TRPC6 semapv:UnspecifiedMatching -OMIM:603652 TRPC6 skos:exactMatch ncbigene:7225 semapv:UnspecifiedMatching -OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:10928 semapv:UnspecifiedMatching -OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:SLC16A7 semapv:UnspecifiedMatching -OMIM:603654 SLC16A7 skos:exactMatch ncbigene:9194 semapv:UnspecifiedMatching -OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:12644 semapv:UnspecifiedMatching -OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:VAMP3 semapv:UnspecifiedMatching -OMIM:603657 VAMP3 skos:exactMatch ncbigene:9341 semapv:UnspecifiedMatching -OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:10440 semapv:UnspecifiedMatching -OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:RPS7 semapv:UnspecifiedMatching -OMIM:603658 RPS7 skos:exactMatch ncbigene:6201 semapv:UnspecifiedMatching -OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:4325 semapv:UnspecifiedMatching -OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:GLP2R semapv:UnspecifiedMatching -OMIM:603659 GLP2R skos:exactMatch ncbigene:9340 semapv:UnspecifiedMatching -OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:10385 semapv:UnspecifiedMatching -OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:RPS12 semapv:UnspecifiedMatching -OMIM:603660 RPS12 skos:exactMatch ncbigene:6206 semapv:UnspecifiedMatching -OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:10307 semapv:UnspecifiedMatching -OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:RPL17 semapv:UnspecifiedMatching -OMIM:603661 RPL17 skos:exactMatch ncbigene:6139 semapv:UnspecifiedMatching -OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:10316 semapv:UnspecifiedMatching -OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:RPL23 semapv:UnspecifiedMatching -OMIM:603662 RPL23 skos:exactMatch ncbigene:9349 semapv:UnspecifiedMatching -OMIM:603665 STC2 skos:exactMatch hgnc.symbol:11374 semapv:UnspecifiedMatching -OMIM:603665 STC2 skos:exactMatch hgnc.symbol:STC2 semapv:UnspecifiedMatching -OMIM:603665 STC2 skos:exactMatch ncbigene:8614 semapv:UnspecifiedMatching -OMIM:603666 STX16 skos:exactMatch hgnc.symbol:11431 semapv:UnspecifiedMatching -OMIM:603666 STX16 skos:exactMatch hgnc.symbol:STX16 semapv:UnspecifiedMatching -OMIM:603666 STX16 skos:exactMatch ncbigene:8675 semapv:UnspecifiedMatching -OMIM:603667 SLC25A12 skos:exactMatch UMLS:C1420153 semapv:UnspecifiedMatching -OMIM:603667 SLC25A12 skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching -OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:10982 semapv:UnspecifiedMatching -OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:SLC25A12 semapv:UnspecifiedMatching -OMIM:603667 SLC25A12 skos:exactMatch ncbigene:8604 semapv:UnspecifiedMatching -OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:10784 semapv:UnspecifiedMatching -OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:SCAF11 semapv:UnspecifiedMatching -OMIM:603668 SCAF11 skos:exactMatch ncbigene:9169 semapv:UnspecifiedMatching -OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:1536 semapv:UnspecifiedMatching -OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:CBFA2T2 semapv:UnspecifiedMatching -OMIM:603672 CBFA2T2 skos:exactMatch ncbigene:9139 semapv:UnspecifiedMatching -OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:9586 semapv:UnspecifiedMatching -OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:PTCH2 semapv:UnspecifiedMatching -OMIM:603673 PTCH2 skos:exactMatch ncbigene:8643 semapv:UnspecifiedMatching -OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:10389 semapv:UnspecifiedMatching -OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:RPS15A semapv:UnspecifiedMatching -OMIM:603674 RPS15A skos:exactMatch ncbigene:6210 semapv:UnspecifiedMatching -OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:10396 semapv:UnspecifiedMatching -OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:RPS16 semapv:UnspecifiedMatching -OMIM:603675 RPS16 skos:exactMatch ncbigene:6217 semapv:UnspecifiedMatching -OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:12492 semapv:UnspecifiedMatching -OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:UBE2N semapv:UnspecifiedMatching -OMIM:603679 UBE2N skos:exactMatch ncbigene:7334 semapv:UnspecifiedMatching -OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:10561 semapv:UnspecifiedMatching -OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:ATXN8OS semapv:UnspecifiedMatching -OMIM:603680 ATXN8OS skos:exactMatch ncbigene:6315 semapv:UnspecifiedMatching -OMIM:603681 OTOF skos:exactMatch hgnc.symbol:8515 semapv:UnspecifiedMatching -OMIM:603681 OTOF skos:exactMatch hgnc.symbol:OTOF semapv:UnspecifiedMatching -OMIM:603681 OTOF skos:exactMatch ncbigene:9381 semapv:UnspecifiedMatching -OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:10405 semapv:UnspecifiedMatching -OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:RPS20 semapv:UnspecifiedMatching -OMIM:603682 RPS20 skos:exactMatch ncbigene:6224 semapv:UnspecifiedMatching -OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:10410 semapv:UnspecifiedMatching -OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:RPS23 semapv:UnspecifiedMatching -OMIM:603683 RPS23 skos:exactMatch ncbigene:6228 semapv:UnspecifiedMatching -OMIM:603684 LIPG skos:exactMatch hgnc.symbol:6623 semapv:UnspecifiedMatching -OMIM:603684 LIPG skos:exactMatch hgnc.symbol:LIPG semapv:UnspecifiedMatching -OMIM:603684 LIPG skos:exactMatch ncbigene:9388 semapv:UnspecifiedMatching -OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:10418 semapv:UnspecifiedMatching -OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:RPS28 semapv:UnspecifiedMatching -OMIM:603685 RPS28 skos:exactMatch ncbigene:6234 semapv:UnspecifiedMatching -OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:10369 semapv:UnspecifiedMatching -OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:RPL9 semapv:UnspecifiedMatching -OMIM:603686 RPL9 skos:exactMatch ncbigene:6133 semapv:UnspecifiedMatching -OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:15472 semapv:UnspecifiedMatching -OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:ALDH1A2 semapv:UnspecifiedMatching -OMIM:603687 ALDH1A2 skos:exactMatch ncbigene:8854 semapv:UnspecifiedMatching -OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:95 semapv:UnspecifiedMatching -OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:SLC33A1 semapv:UnspecifiedMatching -OMIM:603690 SLC33A1 skos:exactMatch ncbigene:9197 semapv:UnspecifiedMatching -OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:4133 semapv:UnspecifiedMatching -OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:GALR2 semapv:UnspecifiedMatching -OMIM:603691 GALR2 skos:exactMatch ncbigene:8811 semapv:UnspecifiedMatching -OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:4134 semapv:UnspecifiedMatching -OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:GALR3 semapv:UnspecifiedMatching -OMIM:603692 GALR3 skos:exactMatch ncbigene:8484 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1424490 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1857781 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch UMLS:C4015129 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:16700 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:ZFPM2 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch ncbigene:23414 semapv:UnspecifiedMatching -OMIM:603694 iia 2 diabetes mellitus 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching -OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:4686 semapv:UnspecifiedMatching -OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:GUCY1B2 semapv:UnspecifiedMatching -OMIM:603695 GUCY1B2 skos:exactMatch ncbigene:2974 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:9165 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:SEPTIN4 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch ncbigene:5414 semapv:UnspecifiedMatching -OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:434 semapv:UnspecifiedMatching -OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:ALOX15B semapv:UnspecifiedMatching -OMIM:603697 ALOX15B skos:exactMatch ncbigene:247 semapv:UnspecifiedMatching -OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:4181 semapv:UnspecifiedMatching -OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:GBF1 semapv:UnspecifiedMatching -OMIM:603698 GBF1 skos:exactMatch ncbigene:8729 semapv:UnspecifiedMatching -OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:12776 semapv:UnspecifiedMatching -OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:WNT11 semapv:UnspecifiedMatching -OMIM:603699 WNT11 skos:exactMatch ncbigene:7481 semapv:UnspecifiedMatching -OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:436 semapv:UnspecifiedMatching -OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:ALOX5AP semapv:UnspecifiedMatching -OMIM:603700 ALOX5AP skos:exactMatch ncbigene:241 semapv:UnspecifiedMatching -OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:10414 semapv:UnspecifiedMatching -OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:RPS26 semapv:UnspecifiedMatching -OMIM:603701 RPS26 skos:exactMatch ncbigene:6231 semapv:UnspecifiedMatching -OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:10416 semapv:UnspecifiedMatching -OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:RPS27 semapv:UnspecifiedMatching -OMIM:603702 RPS27 skos:exactMatch ncbigene:6232 semapv:UnspecifiedMatching -OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:10362 semapv:UnspecifiedMatching -OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:RPL6 semapv:UnspecifiedMatching -OMIM:603703 RPL6 skos:exactMatch ncbigene:6128 semapv:UnspecifiedMatching -OMIM:603704 RPL26 skos:exactMatch hgnc.symbol:10327 semapv:UnspecifiedMatching -OMIM:603704 RPL26 skos:exactMatch hgnc.symbol:RPL26 semapv:UnspecifiedMatching -OMIM:603704 RPL26 skos:exactMatch ncbigene:6154 semapv:UnspecifiedMatching -OMIM:603705 ANGPT4 skos:exactMatch hgnc.symbol:487 semapv:UnspecifiedMatching -OMIM:603705 ANGPT4 skos:exactMatch hgnc.symbol:ANGPT4 semapv:UnspecifiedMatching -OMIM:603705 ANGPT4 skos:exactMatch ncbigene:51378 semapv:UnspecifiedMatching -OMIM:603706 SEMA4F skos:exactMatch UMLS:C1419952 semapv:UnspecifiedMatching -OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:10734 semapv:UnspecifiedMatching -OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:SEMA4F semapv:UnspecifiedMatching -OMIM:603706 SEMA4F skos:exactMatch ncbigene:10505 semapv:UnspecifiedMatching -OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:7190 semapv:UnspecifiedMatching -OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:MOCS1 semapv:UnspecifiedMatching -OMIM:603707 MOCS1 skos:exactMatch ncbigene:4337 semapv:UnspecifiedMatching -OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:7193 semapv:UnspecifiedMatching -OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:MOCS2 semapv:UnspecifiedMatching -OMIM:603708 MOCS2 skos:exactMatch ncbigene:4338 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch UMLS:C1412192 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:201 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:ADAM22 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch ncbigene:53616 semapv:UnspecifiedMatching -OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:202 semapv:UnspecifiedMatching -OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:ADAM23 semapv:UnspecifiedMatching -OMIM:603710 ADAM23 skos:exactMatch ncbigene:8745 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1413894 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch UMLS:C3151147 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch hgnc.symbol:2652 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch hgnc.symbol:CYP7B1 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch ncbigene:9420 semapv:UnspecifiedMatching -OMIM:603712 ADAM20 skos:exactMatch hgnc.symbol:199 semapv:UnspecifiedMatching -OMIM:603712 ADAM20 skos:exactMatch hgnc.symbol:ADAM20 semapv:UnspecifiedMatching -OMIM:603712 ADAM20 skos:exactMatch ncbigene:8748 semapv:UnspecifiedMatching -OMIM:603713 ADAM21 skos:exactMatch hgnc.symbol:200 semapv:UnspecifiedMatching -OMIM:603713 ADAM21 skos:exactMatch hgnc.symbol:ADAM21 semapv:UnspecifiedMatching -OMIM:603713 ADAM21 skos:exactMatch ncbigene:8747 semapv:UnspecifiedMatching -OMIM:603714 SIX3 skos:exactMatch hgnc.symbol:10889 semapv:UnspecifiedMatching -OMIM:603714 SIX3 skos:exactMatch hgnc.symbol:SIX3 semapv:UnspecifiedMatching -OMIM:603714 SIX3 skos:exactMatch ncbigene:6496 semapv:UnspecifiedMatching -OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:4197 semapv:UnspecifiedMatching -OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:GCM1 semapv:UnspecifiedMatching -OMIM:603715 GCM1 skos:exactMatch ncbigene:8521 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch UMLS:C1415017 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch UMLS:C4479229 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:4198 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:GCM2 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch ncbigene:9247 semapv:UnspecifiedMatching -OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:861 semapv:UnspecifiedMatching -OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:ATP6V0B semapv:UnspecifiedMatching -OMIM:603717 ATP6V0B skos:exactMatch ncbigene:533 semapv:UnspecifiedMatching -OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:2032 semapv:UnspecifiedMatching -OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:CLDN1 semapv:UnspecifiedMatching -OMIM:603718 CLDN1 skos:exactMatch ncbigene:9076 semapv:UnspecifiedMatching -OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:1151 semapv:UnspecifiedMatching -OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:BUB3 semapv:UnspecifiedMatching -OMIM:603719 BUB3 skos:exactMatch ncbigene:9184 semapv:UnspecifiedMatching -OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:12488 semapv:UnspecifiedMatching -OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:UBE2L3 semapv:UnspecifiedMatching -OMIM:603721 UBE2L3 skos:exactMatch ncbigene:7332 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch UMLS:C1416379 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:5959 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:ELP1 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch ncbigene:8518 semapv:UnspecifiedMatching -OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:3673 semapv:UnspecifiedMatching -OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:FGF17 semapv:UnspecifiedMatching -OMIM:603725 FGF17 skos:exactMatch ncbigene:8822 semapv:UnspecifiedMatching -OMIM:603726 FGF18 skos:exactMatch hgnc.symbol:3674 semapv:UnspecifiedMatching -OMIM:603726 FGF18 skos:exactMatch hgnc.symbol:FGF18 semapv:UnspecifiedMatching -OMIM:603726 FGF18 skos:exactMatch ncbigene:8817 semapv:UnspecifiedMatching -OMIM:603727 QARS1 skos:exactMatch hgnc.symbol:9751 semapv:UnspecifiedMatching -OMIM:603727 QARS1 skos:exactMatch hgnc.symbol:QARS1 semapv:UnspecifiedMatching -OMIM:603727 QARS1 skos:exactMatch ncbigene:5859 semapv:UnspecifiedMatching -OMIM:603728 NUMB skos:exactMatch UMLS:C1417890 semapv:UnspecifiedMatching -OMIM:603728 NUMB skos:exactMatch hgnc.symbol:8060 semapv:UnspecifiedMatching -OMIM:603728 NUMB skos:exactMatch hgnc.symbol:NUMB semapv:UnspecifiedMatching -OMIM:603728 NUMB skos:exactMatch ncbigene:8650 semapv:UnspecifiedMatching -OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:10817 semapv:UnspecifiedMatching -OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:SGPL1 semapv:UnspecifiedMatching -OMIM:603729 SGPL1 skos:exactMatch ncbigene:8879 semapv:UnspecifiedMatching -OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:11240 semapv:UnspecifiedMatching -OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:SPHK1 semapv:UnspecifiedMatching -OMIM:603730 SPHK1 skos:exactMatch ncbigene:8877 semapv:UnspecifiedMatching -OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:9207 semapv:UnspecifiedMatching -OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:CNOT8 semapv:UnspecifiedMatching -OMIM:603731 CNOT8 skos:exactMatch ncbigene:9337 semapv:UnspecifiedMatching -OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:2385 semapv:UnspecifiedMatching -OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:CRY2 semapv:UnspecifiedMatching -OMIM:603732 CRY2 skos:exactMatch ncbigene:1408 semapv:UnspecifiedMatching -OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:9225 semapv:UnspecifiedMatching -OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:SLC43A1 semapv:UnspecifiedMatching -OMIM:603733 SLC43A1 skos:exactMatch ncbigene:8501 semapv:UnspecifiedMatching -OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:6118 semapv:UnspecifiedMatching -OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:IRF3 semapv:UnspecifiedMatching -OMIM:603734 IRF3 skos:exactMatch ncbigene:3661 semapv:UnspecifiedMatching -OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:550 semapv:UnspecifiedMatching -OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:AOC3 semapv:UnspecifiedMatching -OMIM:603735 AOC3 skos:exactMatch ncbigene:8639 semapv:UnspecifiedMatching -OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch Orphanet:3047 semapv:UnspecifiedMatching -OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching -OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:1127 semapv:UnspecifiedMatching -OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:BTF3P12 semapv:UnspecifiedMatching -OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:1128 semapv:UnspecifiedMatching -OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:BTF3P13 semapv:UnspecifiedMatching -OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch UMLS:C1863556 semapv:UnspecifiedMatching -OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:430 semapv:UnspecifiedMatching -OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:ALOX12B semapv:UnspecifiedMatching -OMIM:603741 ALOX12B skos:exactMatch ncbigene:242 semapv:UnspecifiedMatching -OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:11085 semapv:UnspecifiedMatching -OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:SLIT1 semapv:UnspecifiedMatching -OMIM:603742 SLIT1 skos:exactMatch ncbigene:6585 semapv:UnspecifiedMatching -OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:618 semapv:UnspecifiedMatching -OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:APOL1 semapv:UnspecifiedMatching -OMIM:603743 APOL1 skos:exactMatch ncbigene:8542 semapv:UnspecifiedMatching -OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:11087 semapv:UnspecifiedMatching -OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:SLIT3 semapv:UnspecifiedMatching -OMIM:603745 SLIT3 skos:exactMatch ncbigene:6586 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch UMLS:C1420244 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:11086 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:SLIT2 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch ncbigene:9353 semapv:UnspecifiedMatching -OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:12007 semapv:UnspecifiedMatching -OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:TPD52L2 semapv:UnspecifiedMatching -OMIM:603747 TPD52L2 skos:exactMatch ncbigene:7165 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch UMLS:C1421174 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:12339 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:TRPM2 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch ncbigene:7226 semapv:UnspecifiedMatching -OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:642 semapv:UnspecifiedMatching -OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:AQP8 semapv:UnspecifiedMatching -OMIM:603750 AQP8 skos:exactMatch ncbigene:343 semapv:UnspecifiedMatching -OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:3170 semapv:UnspecifiedMatching -OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:S1PR4 semapv:UnspecifiedMatching -OMIM:603751 S1PR4 skos:exactMatch ncbigene:8698 semapv:UnspecifiedMatching -OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:11062 semapv:UnspecifiedMatching -OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:SLC7A4 semapv:UnspecifiedMatching -OMIM:603752 SLC7A4 skos:exactMatch ncbigene:6545 semapv:UnspecifiedMatching -OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:12499 semapv:UnspecifiedMatching -OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:UBE4A semapv:UnspecifiedMatching -OMIM:603753 UBE4A skos:exactMatch ncbigene:9354 semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch UMLS:C1416635 semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:6320 semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:KIF3B semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch ncbigene:9371 semapv:UnspecifiedMatching -OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:6775 semapv:UnspecifiedMatching -OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:ZFYVE9 semapv:UnspecifiedMatching -OMIM:603755 ZFYVE9 skos:exactMatch ncbigene:9372 semapv:UnspecifiedMatching -OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:74 semapv:UnspecifiedMatching -OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:ABCG2 semapv:UnspecifiedMatching -OMIM:603756 ABCG2 skos:exactMatch ncbigene:9429 semapv:UnspecifiedMatching -OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:10616 semapv:UnspecifiedMatching -OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:CCL18 semapv:UnspecifiedMatching -OMIM:603757 CCL18 skos:exactMatch ncbigene:6362 semapv:UnspecifiedMatching -OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:4643 semapv:UnspecifiedMatching -OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:GSTZ1 semapv:UnspecifiedMatching -OMIM:603758 GSTZ1 skos:exactMatch ncbigene:2954 semapv:UnspecifiedMatching -OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:6594 semapv:UnspecifiedMatching -OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:LHX2 semapv:UnspecifiedMatching -OMIM:603759 LHX2 skos:exactMatch ncbigene:9355 semapv:UnspecifiedMatching -OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:5309 semapv:UnspecifiedMatching -OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:HUS1 semapv:UnspecifiedMatching -OMIM:603760 HUS1 skos:exactMatch ncbigene:3364 semapv:UnspecifiedMatching -OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:9827 semapv:UnspecifiedMatching -OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:RAD9A semapv:UnspecifiedMatching -OMIM:603761 RAD9A skos:exactMatch ncbigene:5883 semapv:UnspecifiedMatching -OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:9467 semapv:UnspecifiedMatching -OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:PRPSAP2 semapv:UnspecifiedMatching -OMIM:603762 PRPSAP2 skos:exactMatch ncbigene:5636 semapv:UnspecifiedMatching -OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:6389 semapv:UnspecifiedMatching -OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:KIFC1 semapv:UnspecifiedMatching -OMIM:603763 KIFC1 skos:exactMatch ncbigene:3833 semapv:UnspecifiedMatching -OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:1776 semapv:UnspecifiedMatching -OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:CDK5R2 semapv:UnspecifiedMatching -OMIM:603764 CDK5R2 skos:exactMatch ncbigene:8941 semapv:UnspecifiedMatching -OMIM:603765 STX10 skos:exactMatch hgnc.symbol:11428 semapv:UnspecifiedMatching -OMIM:603765 STX10 skos:exactMatch hgnc.symbol:STX10 semapv:UnspecifiedMatching -OMIM:603765 STX10 skos:exactMatch ncbigene:8677 semapv:UnspecifiedMatching -OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:7441 semapv:UnspecifiedMatching -OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:MTIF2 semapv:UnspecifiedMatching -OMIM:603766 MTIF2 skos:exactMatch ncbigene:4528 semapv:UnspecifiedMatching -OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:6365 semapv:UnspecifiedMatching -OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:KLK4 semapv:UnspecifiedMatching -OMIM:603767 KLK4 skos:exactMatch ncbigene:9622 semapv:UnspecifiedMatching -OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:7619 semapv:UnspecifiedMatching -OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:PPP1R12B semapv:UnspecifiedMatching -OMIM:603768 PPP1R12B skos:exactMatch ncbigene:4660 semapv:UnspecifiedMatching -OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:11649 semapv:UnspecifiedMatching -OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:TCL1B semapv:UnspecifiedMatching -OMIM:603769 TCL1B skos:exactMatch ncbigene:9623 semapv:UnspecifiedMatching -OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:9276 semapv:UnspecifiedMatching -OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:PPM1B semapv:UnspecifiedMatching -OMIM:603770 PPM1B skos:exactMatch ncbigene:5495 semapv:UnspecifiedMatching -OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:9284 semapv:UnspecifiedMatching -OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:PPP1R10 semapv:UnspecifiedMatching -OMIM:603771 PPP1R10 skos:exactMatch ncbigene:5514 semapv:UnspecifiedMatching -OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:2963 semapv:UnspecifiedMatching -OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:DYNC1I1 semapv:UnspecifiedMatching -OMIM:603772 DYNC1I1 skos:exactMatch ncbigene:1780 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch UMLS:C1413636 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch hgnc.symbol:2267 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch hgnc.symbol:COX5A semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch ncbigene:9377 semapv:UnspecifiedMatching -OMIM:603774 COX7C skos:exactMatch hgnc.symbol:2292 semapv:UnspecifiedMatching -OMIM:603774 COX7C skos:exactMatch hgnc.symbol:COX7C semapv:UnspecifiedMatching -OMIM:603774 COX7C skos:exactMatch ncbigene:1350 semapv:UnspecifiedMatching -OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:1590 semapv:UnspecifiedMatching -OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:CCNE2 semapv:UnspecifiedMatching -OMIM:603775 CCNE2 skos:exactMatch ncbigene:9134 semapv:UnspecifiedMatching -OMIM:603777 CER1 skos:exactMatch hgnc.symbol:1862 semapv:UnspecifiedMatching -OMIM:603777 CER1 skos:exactMatch hgnc.symbol:CER1 semapv:UnspecifiedMatching -OMIM:603777 CER1 skos:exactMatch ncbigene:9350 semapv:UnspecifiedMatching -OMIM:603778 CDYL skos:exactMatch UMLS:C1413305 semapv:UnspecifiedMatching -OMIM:603778 CDYL skos:exactMatch hgnc.symbol:1811 semapv:UnspecifiedMatching -OMIM:603778 CDYL skos:exactMatch hgnc.symbol:CDYL semapv:UnspecifiedMatching -OMIM:603778 CDYL skos:exactMatch ncbigene:9425 semapv:UnspecifiedMatching -OMIM:603779 SNCAIP skos:exactMatch UMLS:C1420277 semapv:UnspecifiedMatching -OMIM:603779 SNCAIP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:11139 semapv:UnspecifiedMatching -OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:SNCAIP semapv:UnspecifiedMatching -OMIM:603779 SNCAIP skos:exactMatch ncbigene:9627 semapv:UnspecifiedMatching -OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:9949 semapv:UnspecifiedMatching -OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:RECQL4 semapv:UnspecifiedMatching -OMIM:603780 RECQL4 skos:exactMatch ncbigene:9401 semapv:UnspecifiedMatching -OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:9950 semapv:UnspecifiedMatching -OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:RECQL5 semapv:UnspecifiedMatching -OMIM:603781 RECQL5 skos:exactMatch ncbigene:9400 semapv:UnspecifiedMatching -OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:10631 semapv:UnspecifiedMatching -OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:CCL4L1 semapv:UnspecifiedMatching -OMIM:603782 CCL4L1 skos:exactMatch ncbigene:388372 semapv:UnspecifiedMatching -OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:13524 semapv:UnspecifiedMatching -OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:PTTG1IP semapv:UnspecifiedMatching -OMIM:603784 PTTG1IP skos:exactMatch ncbigene:754 semapv:UnspecifiedMatching -OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:7208 semapv:UnspecifiedMatching -OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:MPDZ semapv:UnspecifiedMatching -OMIM:603785 MPDZ skos:exactMatch ncbigene:8777 semapv:UnspecifiedMatching -OMIM:603786 stargardt disease 4 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching -OMIM:603786 stargardt disease 4 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching -OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:6246 semapv:UnspecifiedMatching -OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:KCNF1 semapv:UnspecifiedMatching -OMIM:603787 KCNF1 skos:exactMatch ncbigene:3754 semapv:UnspecifiedMatching -OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:6248 semapv:UnspecifiedMatching -OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:KCNG1 semapv:UnspecifiedMatching -OMIM:603788 KCNG1 skos:exactMatch ncbigene:3755 semapv:UnspecifiedMatching -OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:10974 semapv:UnspecifiedMatching -OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:SLC23A1 semapv:UnspecifiedMatching -OMIM:603790 SLC23A1 skos:exactMatch ncbigene:9963 semapv:UnspecifiedMatching -OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:10973 semapv:UnspecifiedMatching -OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:SLC23A2 semapv:UnspecifiedMatching -OMIM:603791 SLC23A2 skos:exactMatch ncbigene:9962 semapv:UnspecifiedMatching -OMIM:603794 hydroa vacciniforme, familial skos:exactMatch UMLS:C1863533 semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch UMLS:C1424587 semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch hgnc.symbol:16841 semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch hgnc.symbol:LITAF semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch ncbigene:9516 semapv:UnspecifiedMatching -OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:6242 semapv:UnspecifiedMatching -OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:KCNE2 semapv:UnspecifiedMatching -OMIM:603796 KCNE2 skos:exactMatch ncbigene:9992 semapv:UnspecifiedMatching -OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:1969 semapv:UnspecifiedMatching -OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:CHST1 semapv:UnspecifiedMatching -OMIM:603797 CHST1 skos:exactMatch ncbigene:8534 semapv:UnspecifiedMatching -OMIM:603798 CHST2 skos:exactMatch UMLS:C1413415 semapv:UnspecifiedMatching -OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:1970 semapv:UnspecifiedMatching -OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:CHST2 semapv:UnspecifiedMatching -OMIM:603798 CHST2 skos:exactMatch ncbigene:9435 semapv:UnspecifiedMatching -OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:1971 semapv:UnspecifiedMatching -OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:CHST3 semapv:UnspecifiedMatching -OMIM:603799 CHST3 skos:exactMatch ncbigene:9469 semapv:UnspecifiedMatching -OMIM:603800 MED21 skos:exactMatch hgnc.symbol:11473 semapv:UnspecifiedMatching -OMIM:603800 MED21 skos:exactMatch hgnc.symbol:MED21 semapv:UnspecifiedMatching -OMIM:603800 MED21 skos:exactMatch ncbigene:9412 semapv:UnspecifiedMatching -OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:7858 semapv:UnspecifiedMatching -OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:NMT2 semapv:UnspecifiedMatching -OMIM:603801 NMT2 skos:exactMatch ncbigene:9397 semapv:UnspecifiedMatching -OMIM:603803 DACH1 skos:exactMatch UMLS:C1413899 semapv:UnspecifiedMatching -OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:2663 semapv:UnspecifiedMatching -OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:DACH1 semapv:UnspecifiedMatching -OMIM:603803 DACH1 skos:exactMatch ncbigene:1602 semapv:UnspecifiedMatching -OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:7761 semapv:UnspecifiedMatching -OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:NEURL1 semapv:UnspecifiedMatching -OMIM:603804 NEURL1 skos:exactMatch ncbigene:9148 semapv:UnspecifiedMatching -OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:11781 semapv:UnspecifiedMatching -OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:TGM5 semapv:UnspecifiedMatching -OMIM:603805 TGM5 skos:exactMatch ncbigene:9333 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch UMLS:C1427770 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch hgnc.symbol:22474 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch hgnc.symbol:MED13 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch ncbigene:9969 semapv:UnspecifiedMatching -OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:22964 semapv:UnspecifiedMatching -OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:THRAP3 semapv:UnspecifiedMatching -OMIM:603809 THRAP3 skos:exactMatch ncbigene:9967 semapv:UnspecifiedMatching -OMIM:603810 MED17 skos:exactMatch hgnc.symbol:2375 semapv:UnspecifiedMatching -OMIM:603810 MED17 skos:exactMatch hgnc.symbol:MED17 semapv:UnspecifiedMatching -OMIM:603810 MED17 skos:exactMatch ncbigene:9440 semapv:UnspecifiedMatching -OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:17397 semapv:UnspecifiedMatching -OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:BANF1 semapv:UnspecifiedMatching -OMIM:603811 BANF1 skos:exactMatch ncbigene:8815 semapv:UnspecifiedMatching -OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:20224 semapv:UnspecifiedMatching -OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:DCAF5 semapv:UnspecifiedMatching -OMIM:603812 DCAF5 skos:exactMatch ncbigene:8816 semapv:UnspecifiedMatching -OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:9928 semapv:UnspecifiedMatching -OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:RBX1 semapv:UnspecifiedMatching -OMIM:603814 RBX1 skos:exactMatch ncbigene:9978 semapv:UnspecifiedMatching -OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:6390 semapv:UnspecifiedMatching -OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:KIF25 semapv:UnspecifiedMatching -OMIM:603815 KIF25 skos:exactMatch ncbigene:3834 semapv:UnspecifiedMatching -OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:903 semapv:UnspecifiedMatching -OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:AXIN1 semapv:UnspecifiedMatching -OMIM:603816 AXIN1 skos:exactMatch ncbigene:8312 semapv:UnspecifiedMatching -OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:2721 semapv:UnspecifiedMatching -OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:ASAP2 semapv:UnspecifiedMatching -OMIM:603817 DDEF2 skos:exactMatch ncbigene:8853 semapv:UnspecifiedMatching -OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:7998 semapv:UnspecifiedMatching -OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:NRG2 semapv:UnspecifiedMatching -OMIM:603818 NRG2 skos:exactMatch ncbigene:9542 semapv:UnspecifiedMatching -OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:11281 semapv:UnspecifiedMatching -OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:SRA1 semapv:UnspecifiedMatching -OMIM:603819 SRA1 skos:exactMatch ncbigene:10011 semapv:UnspecifiedMatching -OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:4498 semapv:UnspecifiedMatching -OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:FFAR1 semapv:UnspecifiedMatching -OMIM:603820 FFAR1 skos:exactMatch ncbigene:2864 semapv:UnspecifiedMatching -OMIM:603821 FFAR3 skos:exactMatch UMLS:C1825294 semapv:UnspecifiedMatching -OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:4499 semapv:UnspecifiedMatching -OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:FFAR3 semapv:UnspecifiedMatching -OMIM:603821 FFAR3 skos:exactMatch ncbigene:2865 semapv:UnspecifiedMatching -OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:4500 semapv:UnspecifiedMatching -OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:GPR42 semapv:UnspecifiedMatching -OMIM:603822 GPR42 skos:exactMatch ncbigene:2866 semapv:UnspecifiedMatching -OMIM:603823 FFAR2 skos:exactMatch UMLS:C1825293 semapv:UnspecifiedMatching -OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:4501 semapv:UnspecifiedMatching -OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:FFAR2 semapv:UnspecifiedMatching -OMIM:603823 FFAR2 skos:exactMatch ncbigene:2867 semapv:UnspecifiedMatching -OMIM:603824 GNE skos:exactMatch hgnc.symbol:23657 semapv:UnspecifiedMatching -OMIM:603824 GNE skos:exactMatch hgnc.symbol:GNE semapv:UnspecifiedMatching -OMIM:603824 GNE skos:exactMatch ncbigene:10020 semapv:UnspecifiedMatching -OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:4909 semapv:UnspecifiedMatching -OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:HIC1 semapv:UnspecifiedMatching -OMIM:603825 HIC1 skos:exactMatch ncbigene:3090 semapv:UnspecifiedMatching -OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:7967 semapv:UnspecifiedMatching -OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:NR1H4 semapv:UnspecifiedMatching -OMIM:603826 NR1H4 skos:exactMatch ncbigene:9971 semapv:UnspecifiedMatching -OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:994 semapv:UnspecifiedMatching -OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:BCL2L11 semapv:UnspecifiedMatching -OMIM:603827 BCL2L11 skos:exactMatch ncbigene:10018 semapv:UnspecifiedMatching -OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:8821 semapv:UnspecifiedMatching -OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:PDZK1 semapv:UnspecifiedMatching -OMIM:603831 PDZK1 skos:exactMatch ncbigene:5174 semapv:UnspecifiedMatching -OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:7686 semapv:UnspecifiedMatching -OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:NDUFA3 semapv:UnspecifiedMatching -OMIM:603832 NDUFA3 skos:exactMatch ncbigene:4696 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch UMLS:C1417624 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:7687 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:NDUFA4 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch ncbigene:4697 semapv:UnspecifiedMatching -OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:7693 semapv:UnspecifiedMatching -OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:NDUFA9 semapv:UnspecifiedMatching -OMIM:603834 NDUFA9 skos:exactMatch ncbigene:4704 semapv:UnspecifiedMatching -OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:7684 semapv:UnspecifiedMatching -OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:NDUFA10 semapv:UnspecifiedMatching -OMIM:603835 NDUFA10 skos:exactMatch ncbigene:4705 semapv:UnspecifiedMatching -OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:7694 semapv:UnspecifiedMatching -OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:NDUFAB1 semapv:UnspecifiedMatching -OMIM:603836 NDUFAB1 skos:exactMatch ncbigene:4706 semapv:UnspecifiedMatching -OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:7695 semapv:UnspecifiedMatching -OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:NDUFB1 semapv:UnspecifiedMatching -OMIM:603837 NDUFB1 skos:exactMatch ncbigene:4707 semapv:UnspecifiedMatching -OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:7697 semapv:UnspecifiedMatching -OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:NDUFB2 semapv:UnspecifiedMatching -OMIM:603838 NDUFB2 skos:exactMatch ncbigene:4708 semapv:UnspecifiedMatching -OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:7698 semapv:UnspecifiedMatching -OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:NDUFB3 semapv:UnspecifiedMatching -OMIM:603839 NDUFB3 skos:exactMatch ncbigene:4709 semapv:UnspecifiedMatching -OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:7699 semapv:UnspecifiedMatching -OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:NDUFB4 semapv:UnspecifiedMatching -OMIM:603840 NDUFB4 skos:exactMatch ncbigene:4710 semapv:UnspecifiedMatching -OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:7700 semapv:UnspecifiedMatching -OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:NDUFB5 semapv:UnspecifiedMatching -OMIM:603841 NDUFB5 skos:exactMatch ncbigene:4711 semapv:UnspecifiedMatching -OMIM:603842 NDUFB7 skos:exactMatch hgnc.symbol:7702 semapv:UnspecifiedMatching -OMIM:603842 NDUFB7 skos:exactMatch hgnc.symbol:NDUFB7 semapv:UnspecifiedMatching -OMIM:603842 NDUFB7 skos:exactMatch ncbigene:4713 semapv:UnspecifiedMatching -OMIM:603843 NDUFB10 skos:exactMatch UMLS:C1417633 semapv:UnspecifiedMatching -OMIM:603843 NDUFB10 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching -OMIM:603843 NDUFB10 skos:exactMatch hgnc.symbol:7696 semapv:UnspecifiedMatching -OMIM:603843 NDUFB10 skos:exactMatch hgnc.symbol:NDUFB10 semapv:UnspecifiedMatching -OMIM:603843 NDUFB10 skos:exactMatch ncbigene:4716 semapv:UnspecifiedMatching -OMIM:603844 NDUFC1 skos:exactMatch hgnc.symbol:7705 semapv:UnspecifiedMatching -OMIM:603844 NDUFC1 skos:exactMatch hgnc.symbol:NDUFC1 semapv:UnspecifiedMatching -OMIM:603844 NDUFC1 skos:exactMatch ncbigene:4717 semapv:UnspecifiedMatching -OMIM:603845 NDUFC2 skos:exactMatch hgnc.symbol:7706 semapv:UnspecifiedMatching -OMIM:603845 NDUFC2 skos:exactMatch hgnc.symbol:NDUFC2 semapv:UnspecifiedMatching -OMIM:603845 NDUFC2 skos:exactMatch ncbigene:4718 semapv:UnspecifiedMatching -OMIM:603846 NDUFS3 skos:exactMatch hgnc.symbol:7710 semapv:UnspecifiedMatching -OMIM:603846 NDUFS3 skos:exactMatch hgnc.symbol:NDUFS3 semapv:UnspecifiedMatching -OMIM:603846 NDUFS3 skos:exactMatch ncbigene:4722 semapv:UnspecifiedMatching -OMIM:603847 NDUFS5 skos:exactMatch hgnc.symbol:7712 semapv:UnspecifiedMatching -OMIM:603847 NDUFS5 skos:exactMatch hgnc.symbol:NDUFS5 semapv:UnspecifiedMatching -OMIM:603847 NDUFS5 skos:exactMatch ncbigene:4725 semapv:UnspecifiedMatching -OMIM:603848 NDUFS6 skos:exactMatch hgnc.symbol:7713 semapv:UnspecifiedMatching -OMIM:603848 NDUFS6 skos:exactMatch hgnc.symbol:NDUFS6 semapv:UnspecifiedMatching -OMIM:603848 NDUFS6 skos:exactMatch ncbigene:4726 semapv:UnspecifiedMatching -OMIM:603849 NR2E1 skos:exactMatch hgnc.symbol:7973 semapv:UnspecifiedMatching -OMIM:603849 NR2E1 skos:exactMatch hgnc.symbol:NR2E1 semapv:UnspecifiedMatching -OMIM:603849 NR2E1 skos:exactMatch ncbigene:7101 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch UMLS:C1414119 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch UMLS:C1853139 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch UMLS:C4310912 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch hgnc.symbol:2973 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch hgnc.symbol:DNM1L semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch ncbigene:10059 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C1418697 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859050 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751682 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751683 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:9143 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:PHOX2B semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch ncbigene:8929 semapv:UnspecifiedMatching -OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:12386 semapv:UnspecifiedMatching -OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:TSSC4 semapv:UnspecifiedMatching -OMIM:603852 TSSC4 skos:exactMatch ncbigene:10078 semapv:UnspecifiedMatching -OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:13410 semapv:UnspecifiedMatching -OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:TSPAN32 semapv:UnspecifiedMatching -OMIM:603853 TSPAN32 skos:exactMatch ncbigene:10077 semapv:UnspecifiedMatching -OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:13727 semapv:UnspecifiedMatching -OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:RANBP9 semapv:UnspecifiedMatching -OMIM:603854 RANBP9 skos:exactMatch ncbigene:10048 semapv:UnspecifiedMatching -OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:7114 semapv:UnspecifiedMatching -OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:MKRN3 semapv:UnspecifiedMatching -OMIM:603856 MKRN3 skos:exactMatch ncbigene:7681 semapv:UnspecifiedMatching -OMIM:603857 MKRN3AS skos:exactMatch ncbigene:10108 semapv:UnspecifiedMatching -OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:10983 semapv:UnspecifiedMatching -OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:SLC25A13 semapv:UnspecifiedMatching -OMIM:603859 SLC25A13 skos:exactMatch ncbigene:10165 semapv:UnspecifiedMatching -OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:10985 semapv:UnspecifiedMatching -OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:SLC25A15 semapv:UnspecifiedMatching -OMIM:603861 SLC25A15 skos:exactMatch ncbigene:10166 semapv:UnspecifiedMatching -OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:1600 semapv:UnspecifiedMatching -OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:CCNT2 semapv:UnspecifiedMatching -OMIM:603862 CCNT2 skos:exactMatch ncbigene:905 semapv:UnspecifiedMatching -OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:10070 semapv:UnspecifiedMatching -OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:RNF7 semapv:UnspecifiedMatching -OMIM:603863 RNF7 skos:exactMatch ncbigene:9616 semapv:UnspecifiedMatching -OMIM:603864 CCS skos:exactMatch hgnc.symbol:1613 semapv:UnspecifiedMatching -OMIM:603864 CCS skos:exactMatch hgnc.symbol:CCS semapv:UnspecifiedMatching -OMIM:603864 CCS skos:exactMatch ncbigene:9973 semapv:UnspecifiedMatching -OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:4242 semapv:UnspecifiedMatching -OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:GFPT2 semapv:UnspecifiedMatching -OMIM:603865 GFPT2 skos:exactMatch ncbigene:9945 semapv:UnspecifiedMatching -OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:8852 semapv:UnspecifiedMatching -OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:PEX11A semapv:UnspecifiedMatching -OMIM:603866 PEX11A skos:exactMatch ncbigene:8800 semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch UMLS:C1418472 semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:8853 semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:PEX11B semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch ncbigene:8799 semapv:UnspecifiedMatching -OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:9766 semapv:UnspecifiedMatching -OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:RAB27A semapv:UnspecifiedMatching -OMIM:603868 RAB27A skos:exactMatch ncbigene:5873 semapv:UnspecifiedMatching -OMIM:603869 RAB27B skos:exactMatch hgnc.symbol:9767 semapv:UnspecifiedMatching -OMIM:603869 RAB27B skos:exactMatch hgnc.symbol:RAB27B semapv:UnspecifiedMatching -OMIM:603869 RAB27B skos:exactMatch ncbigene:5874 semapv:UnspecifiedMatching -OMIM:603870 CBFA2T3 skos:exactMatch hgnc.symbol:1537 semapv:UnspecifiedMatching -OMIM:603870 CBFA2T3 skos:exactMatch hgnc.symbol:CBFA2T3 semapv:UnspecifiedMatching -OMIM:603870 CBFA2T3 skos:exactMatch ncbigene:863 semapv:UnspecifiedMatching -OMIM:603871 BYSL skos:exactMatch hgnc.symbol:1157 semapv:UnspecifiedMatching -OMIM:603871 BYSL skos:exactMatch hgnc.symbol:BYSL semapv:UnspecifiedMatching -OMIM:603871 BYSL skos:exactMatch ncbigene:705 semapv:UnspecifiedMatching -OMIM:603872 TROAP skos:exactMatch hgnc.symbol:12327 semapv:UnspecifiedMatching -OMIM:603872 TROAP skos:exactMatch hgnc.symbol:TROAP semapv:UnspecifiedMatching -OMIM:603872 TROAP skos:exactMatch ncbigene:10024 semapv:UnspecifiedMatching -OMIM:603873 PLAA skos:exactMatch UMLS:C1418627 semapv:UnspecifiedMatching -OMIM:603873 PLAA skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching -OMIM:603873 PLAA skos:exactMatch hgnc.symbol:9043 semapv:UnspecifiedMatching -OMIM:603873 PLAA skos:exactMatch hgnc.symbol:PLAA semapv:UnspecifiedMatching -OMIM:603873 PLAA skos:exactMatch ncbigene:9373 semapv:UnspecifiedMatching -OMIM:603874 ANGPTL1 skos:exactMatch hgnc.symbol:489 semapv:UnspecifiedMatching -OMIM:603874 ANGPTL1 skos:exactMatch hgnc.symbol:ANGPTL1 semapv:UnspecifiedMatching -OMIM:603874 ANGPTL1 skos:exactMatch ncbigene:9068 semapv:UnspecifiedMatching -OMIM:603875 TNFSF8 skos:exactMatch hgnc.symbol:11938 semapv:UnspecifiedMatching -OMIM:603875 TNFSF8 skos:exactMatch hgnc.symbol:TNFSF8 semapv:UnspecifiedMatching -OMIM:603875 TNFSF8 skos:exactMatch ncbigene:944 semapv:UnspecifiedMatching -OMIM:603876 ADAMTS4 skos:exactMatch hgnc.symbol:220 semapv:UnspecifiedMatching -OMIM:603876 ADAMTS4 skos:exactMatch hgnc.symbol:ADAMTS4 semapv:UnspecifiedMatching -OMIM:603876 ADAMTS4 skos:exactMatch ncbigene:9507 semapv:UnspecifiedMatching -OMIM:603877 SLC16A3 skos:exactMatch hgnc.symbol:10924 semapv:UnspecifiedMatching -OMIM:603877 SLC16A3 skos:exactMatch hgnc.symbol:SLC16A3 semapv:UnspecifiedMatching -OMIM:603877 SLC16A3 skos:exactMatch ncbigene:9123 semapv:UnspecifiedMatching -OMIM:603878 SLC16A4 skos:exactMatch hgnc.symbol:10925 semapv:UnspecifiedMatching -OMIM:603878 SLC16A4 skos:exactMatch hgnc.symbol:SLC16A4 semapv:UnspecifiedMatching -OMIM:603878 SLC16A4 skos:exactMatch ncbigene:9122 semapv:UnspecifiedMatching -OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:10926 semapv:UnspecifiedMatching -OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:SLC16A5 semapv:UnspecifiedMatching -OMIM:603879 SLC16A5 skos:exactMatch ncbigene:9121 semapv:UnspecifiedMatching -OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:10927 semapv:UnspecifiedMatching -OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:SLC16A6 semapv:UnspecifiedMatching -OMIM:603880 SLC16A6 skos:exactMatch ncbigene:9120 semapv:UnspecifiedMatching -OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:7969 semapv:UnspecifiedMatching -OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:NR1I3 semapv:UnspecifiedMatching -OMIM:603881 NR1I3 skos:exactMatch ncbigene:9970 semapv:UnspecifiedMatching -OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:938 semapv:UnspecifiedMatching -OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:BAG2 semapv:UnspecifiedMatching -OMIM:603882 BAG2 skos:exactMatch ncbigene:9532 semapv:UnspecifiedMatching -OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:939 semapv:UnspecifiedMatching -OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:BAG3 semapv:UnspecifiedMatching -OMIM:603883 BAG3 skos:exactMatch ncbigene:9531 semapv:UnspecifiedMatching -OMIM:603884 BAG4 skos:exactMatch hgnc.symbol:940 semapv:UnspecifiedMatching -OMIM:603884 BAG4 skos:exactMatch hgnc.symbol:BAG4 semapv:UnspecifiedMatching -OMIM:603884 BAG4 skos:exactMatch ncbigene:9530 semapv:UnspecifiedMatching -OMIM:603885 BAG5 skos:exactMatch hgnc.symbol:941 semapv:UnspecifiedMatching -OMIM:603885 BAG5 skos:exactMatch hgnc.symbol:BAG5 semapv:UnspecifiedMatching -OMIM:603885 BAG5 skos:exactMatch ncbigene:9529 semapv:UnspecifiedMatching -OMIM:603886 ARTN skos:exactMatch hgnc.symbol:727 semapv:UnspecifiedMatching -OMIM:603886 ARTN skos:exactMatch hgnc.symbol:ARTN semapv:UnspecifiedMatching -OMIM:603886 ARTN skos:exactMatch ncbigene:9048 semapv:UnspecifiedMatching -OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:11813 semapv:UnspecifiedMatching -OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:TIMELESS semapv:UnspecifiedMatching -OMIM:603887 TIMELESS skos:exactMatch ncbigene:8914 semapv:UnspecifiedMatching -OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:6302 semapv:UnspecifiedMatching -OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:KCNS3 semapv:UnspecifiedMatching -OMIM:603888 KCNS3 skos:exactMatch ncbigene:3790 semapv:UnspecifiedMatching -OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:15928 semapv:UnspecifiedMatching -OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:SIRPB1 semapv:UnspecifiedMatching -OMIM:603889 SIRPB1 skos:exactMatch ncbigene:10326 semapv:UnspecifiedMatching -OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:12490 semapv:UnspecifiedMatching -OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:UBE2L6 semapv:UnspecifiedMatching -OMIM:603890 UBE2L6 skos:exactMatch ncbigene:9246 semapv:UnspecifiedMatching -OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:3675 semapv:UnspecifiedMatching -OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:FGF19 semapv:UnspecifiedMatching -OMIM:603891 FGF19 skos:exactMatch ncbigene:9965 semapv:UnspecifiedMatching -OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:30858 semapv:UnspecifiedMatching -OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:EFTUD2 semapv:UnspecifiedMatching -OMIM:603892 EFTUD2 skos:exactMatch ncbigene:9343 semapv:UnspecifiedMatching -OMIM:603893 TANK skos:exactMatch hgnc.symbol:11562 semapv:UnspecifiedMatching -OMIM:603893 TANK skos:exactMatch hgnc.symbol:TANK semapv:UnspecifiedMatching -OMIM:603893 TANK skos:exactMatch ncbigene:10010 semapv:UnspecifiedMatching -OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:10002 semapv:UnspecifiedMatching -OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:RGS6 semapv:UnspecifiedMatching -OMIM:603894 RGS6 skos:exactMatch ncbigene:9628 semapv:UnspecifiedMatching -OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:9993 semapv:UnspecifiedMatching -OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:RGS11 semapv:UnspecifiedMatching -OMIM:603895 RGS11 skos:exactMatch ncbigene:8786 semapv:UnspecifiedMatching -OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:6910 semapv:UnspecifiedMatching -OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:MATN4 semapv:UnspecifiedMatching -OMIM:603897 MATN4 skos:exactMatch ncbigene:8785 semapv:UnspecifiedMatching -OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:11932 semapv:UnspecifiedMatching -OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:TNFSF18 semapv:UnspecifiedMatching -OMIM:603898 TNFSF18 skos:exactMatch ncbigene:8995 semapv:UnspecifiedMatching -OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:13160 semapv:UnspecifiedMatching -OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:ZNF85 semapv:UnspecifiedMatching -OMIM:603899 ZNF85 skos:exactMatch ncbigene:7639 semapv:UnspecifiedMatching -OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:12963 semapv:UnspecifiedMatching -OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:ZNF174 semapv:UnspecifiedMatching -OMIM:603900 ZNF174 skos:exactMatch ncbigene:7727 semapv:UnspecifiedMatching -OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:13051 semapv:UnspecifiedMatching -OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:ZPR1 semapv:UnspecifiedMatching -OMIM:603901 ZPR1 skos:exactMatch ncbigene:8882 semapv:UnspecifiedMatching -OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:6174 semapv:UnspecifiedMatching -OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:ITM2B semapv:UnspecifiedMatching -OMIM:603904 ITM2B skos:exactMatch ncbigene:9445 semapv:UnspecifiedMatching -OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:11914 semapv:UnspecifiedMatching -OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:TNFRSF18 semapv:UnspecifiedMatching -OMIM:603905 TNFRSF18 skos:exactMatch ncbigene:8784 semapv:UnspecifiedMatching -OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:2015 semapv:UnspecifiedMatching -OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:CLCA1 semapv:UnspecifiedMatching -OMIM:603906 CLCA1 skos:exactMatch ncbigene:1179 semapv:UnspecifiedMatching -OMIM:603907 EIF2S1 skos:exactMatch UMLS:C1414334 semapv:UnspecifiedMatching -OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:3265 semapv:UnspecifiedMatching -OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:EIF2S1 semapv:UnspecifiedMatching -OMIM:603907 EIF2S1 skos:exactMatch ncbigene:1965 semapv:UnspecifiedMatching -OMIM:603908 EIF2S2 skos:exactMatch hgnc.symbol:3266 semapv:UnspecifiedMatching -OMIM:603908 EIF2S2 skos:exactMatch hgnc.symbol:EIF2S2 semapv:UnspecifiedMatching -OMIM:603908 EIF2S2 skos:exactMatch ncbigene:8894 semapv:UnspecifiedMatching -OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:3270 semapv:UnspecifiedMatching -OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:EIF3J semapv:UnspecifiedMatching -OMIM:603910 EIF3J skos:exactMatch ncbigene:8669 semapv:UnspecifiedMatching -OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:3272 semapv:UnspecifiedMatching -OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:EIF3I semapv:UnspecifiedMatching -OMIM:603911 EIF3I skos:exactMatch ncbigene:8668 semapv:UnspecifiedMatching -OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:3273 semapv:UnspecifiedMatching -OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:EIF3H semapv:UnspecifiedMatching -OMIM:603912 EIF3H skos:exactMatch ncbigene:8667 semapv:UnspecifiedMatching -OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:3274 semapv:UnspecifiedMatching -OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:EIF3G semapv:UnspecifiedMatching -OMIM:603913 EIF3G skos:exactMatch ncbigene:8666 semapv:UnspecifiedMatching -OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:3275 semapv:UnspecifiedMatching -OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:EIF3F semapv:UnspecifiedMatching -OMIM:603914 EIF3F skos:exactMatch ncbigene:8665 semapv:UnspecifiedMatching -OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:3278 semapv:UnspecifiedMatching -OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:EIF3D semapv:UnspecifiedMatching -OMIM:603915 EIF3D skos:exactMatch ncbigene:8664 semapv:UnspecifiedMatching -OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:3279 semapv:UnspecifiedMatching -OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:EIF3C semapv:UnspecifiedMatching -OMIM:603916 EIF3C skos:exactMatch ncbigene:8663 semapv:UnspecifiedMatching -OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:3280 semapv:UnspecifiedMatching -OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:EIF3B semapv:UnspecifiedMatching -OMIM:603917 EIF3B skos:exactMatch ncbigene:8662 semapv:UnspecifiedMatching -OMIM:603919 STK10 skos:exactMatch hgnc.symbol:11388 semapv:UnspecifiedMatching -OMIM:603919 STK10 skos:exactMatch hgnc.symbol:STK10 semapv:UnspecifiedMatching -OMIM:603919 STK10 skos:exactMatch ncbigene:6793 semapv:UnspecifiedMatching -OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:2420 semapv:UnspecifiedMatching -OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:CRYZL1 semapv:UnspecifiedMatching -OMIM:603920 CRYZL1 skos:exactMatch ncbigene:9946 semapv:UnspecifiedMatching -OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:11448 semapv:UnspecifiedMatching -OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:SUCLA2 semapv:UnspecifiedMatching -OMIM:603921 SUCLA2 skos:exactMatch ncbigene:8803 semapv:UnspecifiedMatching -OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:11450 semapv:UnspecifiedMatching -OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:SUCLG2 semapv:UnspecifiedMatching -OMIM:603922 SUCLG2 skos:exactMatch ncbigene:8801 semapv:UnspecifiedMatching -OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:4798 semapv:UnspecifiedMatching -OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:HABP2 semapv:UnspecifiedMatching -OMIM:603924 HABP2 skos:exactMatch ncbigene:3026 semapv:UnspecifiedMatching -OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:11498 semapv:UnspecifiedMatching -OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:SYNGR1 semapv:UnspecifiedMatching -OMIM:603925 SYNGR1 skos:exactMatch ncbigene:9145 semapv:UnspecifiedMatching -OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:11499 semapv:UnspecifiedMatching -OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:SYNGR2 semapv:UnspecifiedMatching -OMIM:603926 SYNGR2 skos:exactMatch ncbigene:9144 semapv:UnspecifiedMatching -OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:11501 semapv:UnspecifiedMatching -OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:SYNGR3 semapv:UnspecifiedMatching -OMIM:603927 SYNGR3 skos:exactMatch ncbigene:9143 semapv:UnspecifiedMatching -OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:3285 semapv:UnspecifiedMatching -OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:EIF4B semapv:UnspecifiedMatching -OMIM:603928 EIF4B skos:exactMatch ncbigene:1975 semapv:UnspecifiedMatching -OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:3298 semapv:UnspecifiedMatching -OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:EIF4G3 semapv:UnspecifiedMatching -OMIM:603929 EIF4G3 skos:exactMatch ncbigene:8672 semapv:UnspecifiedMatching -OMIM:603930 GPHN skos:exactMatch hgnc.symbol:15465 semapv:UnspecifiedMatching -OMIM:603930 GPHN skos:exactMatch hgnc.symbol:GPHN semapv:UnspecifiedMatching -OMIM:603930 GPHN skos:exactMatch ncbigene:10243 semapv:UnspecifiedMatching -OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:863 semapv:UnspecifiedMatching -OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:ATP6V0E1 semapv:UnspecifiedMatching -OMIM:603931 ATP6V0E1 skos:exactMatch ncbigene:8992 semapv:UnspecifiedMatching -OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:23393 semapv:UnspecifiedMatching -OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:CARM1 semapv:UnspecifiedMatching -OMIM:603934 CARM1 skos:exactMatch ncbigene:10498 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch UMLS:C1415032 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:4216 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:GDF11 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch ncbigene:10220 semapv:UnspecifiedMatching -OMIM:603937 RP1 skos:exactMatch hgnc.symbol:10263 semapv:UnspecifiedMatching -OMIM:603937 RP1 skos:exactMatch hgnc.symbol:RP1 semapv:UnspecifiedMatching -OMIM:603937 RP1 skos:exactMatch ncbigene:6101 semapv:UnspecifiedMatching -OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:6281 semapv:UnspecifiedMatching -OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:KCNK6 semapv:UnspecifiedMatching -OMIM:603939 KCNK6 skos:exactMatch ncbigene:9424 semapv:UnspecifiedMatching -OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:6282 semapv:UnspecifiedMatching -OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:KCNK7 semapv:UnspecifiedMatching -OMIM:603940 KCNK7 skos:exactMatch ncbigene:10089 semapv:UnspecifiedMatching -OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:10938 semapv:UnspecifiedMatching -OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:SLC19A2 semapv:UnspecifiedMatching -OMIM:603941 SLC19A2 skos:exactMatch ncbigene:10560 semapv:UnspecifiedMatching -OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:4699 semapv:UnspecifiedMatching -OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:GYG1 semapv:UnspecifiedMatching -OMIM:603942 GYG1 skos:exactMatch ncbigene:2992 semapv:UnspecifiedMatching -OMIM:603943 CDO skos:exactMatch hgnc.symbol:1795 semapv:UnspecifiedMatching -OMIM:603943 CDO skos:exactMatch hgnc.symbol:CDO1 semapv:UnspecifiedMatching -OMIM:603943 CDO skos:exactMatch ncbigene:1036 semapv:UnspecifiedMatching -OMIM:603944 STX6 skos:exactMatch hgnc.symbol:11441 semapv:UnspecifiedMatching -OMIM:603944 STX6 skos:exactMatch hgnc.symbol:STX6 semapv:UnspecifiedMatching -OMIM:603944 STX6 skos:exactMatch ncbigene:10228 semapv:UnspecifiedMatching -OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:3261 semapv:UnspecifiedMatching -OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:EIF2B5 semapv:UnspecifiedMatching -OMIM:603945 EIF2B5 skos:exactMatch ncbigene:8893 semapv:UnspecifiedMatching -OMIM:603946 HELLS skos:exactMatch hgnc.symbol:4861 semapv:UnspecifiedMatching -OMIM:603946 HELLS skos:exactMatch hgnc.symbol:HELLS semapv:UnspecifiedMatching -OMIM:603946 HELLS skos:exactMatch ncbigene:3070 semapv:UnspecifiedMatching -OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:7411 semapv:UnspecifiedMatching -OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:MTA2 semapv:UnspecifiedMatching -OMIM:603947 MTA2 skos:exactMatch ncbigene:9219 semapv:UnspecifiedMatching -OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:8062 semapv:UnspecifiedMatching -OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:NUP153 semapv:UnspecifiedMatching -OMIM:603948 NUP153 skos:exactMatch ncbigene:9972 semapv:UnspecifiedMatching -OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:9789 semapv:UnspecifiedMatching -OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:RAB29 semapv:UnspecifiedMatching -OMIM:603949 RAB7L1 skos:exactMatch ncbigene:8934 semapv:UnspecifiedMatching -OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:7682 semapv:UnspecifiedMatching -OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:NDST3 semapv:UnspecifiedMatching -OMIM:603950 NDST3 skos:exactMatch ncbigene:9348 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1416603 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1837739 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:6285 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:KCNMB1 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch ncbigene:3779 semapv:UnspecifiedMatching -OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:3029 semapv:UnspecifiedMatching -OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:DRG1 semapv:UnspecifiedMatching -OMIM:603952 DRG1 skos:exactMatch ncbigene:4733 semapv:UnspecifiedMatching -OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:6260 semapv:UnspecifiedMatching -OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:KCNJ14 semapv:UnspecifiedMatching -OMIM:603953 KCNJ14 skos:exactMatch ncbigene:3770 semapv:UnspecifiedMatching -OMIM:603954 ZW10 skos:exactMatch UMLS:C1421868 semapv:UnspecifiedMatching -OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:13194 semapv:UnspecifiedMatching -OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:ZW10 semapv:UnspecifiedMatching -OMIM:603954 ZW10 skos:exactMatch ncbigene:9183 semapv:UnspecifiedMatching -OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:3770 semapv:UnspecifiedMatching -OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:FMO2 semapv:UnspecifiedMatching -OMIM:603955 FMO2 skos:exactMatch ncbigene:2327 semapv:UnspecifiedMatching -OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:3773 semapv:UnspecifiedMatching -OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:FMO5 semapv:UnspecifiedMatching -OMIM:603957 FMO5 skos:exactMatch ncbigene:2330 semapv:UnspecifiedMatching -OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:9985 semapv:UnspecifiedMatching -OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:RFX4 semapv:UnspecifiedMatching -OMIM:603958 RFX4 skos:exactMatch ncbigene:5992 semapv:UnspecifiedMatching -OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:2037 semapv:UnspecifiedMatching -OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:CLDN16 semapv:UnspecifiedMatching -OMIM:603959 CLDN16 skos:exactMatch ncbigene:10686 semapv:UnspecifiedMatching -OMIM:603960 CCIN skos:exactMatch hgnc.symbol:1568 semapv:UnspecifiedMatching -OMIM:603960 CCIN skos:exactMatch hgnc.symbol:CCIN semapv:UnspecifiedMatching -OMIM:603960 CCIN skos:exactMatch ncbigene:881 semapv:UnspecifiedMatching -OMIM:603961 SEMA3A skos:exactMatch UMLS:C1419942 semapv:UnspecifiedMatching -OMIM:603961 SEMA3A skos:exactMatch UMLS:C4016867 semapv:UnspecifiedMatching -OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:10723 semapv:UnspecifiedMatching -OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:SEMA3A semapv:UnspecifiedMatching -OMIM:603961 SEMA3A skos:exactMatch ncbigene:10371 semapv:UnspecifiedMatching -OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:9878 semapv:UnspecifiedMatching -OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:RASGRP1 semapv:UnspecifiedMatching -OMIM:603962 RASGRP1 skos:exactMatch ncbigene:10125 semapv:UnspecifiedMatching -OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:6145 semapv:UnspecifiedMatching -OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:ITGA9 semapv:UnspecifiedMatching -OMIM:603963 ITGA9 skos:exactMatch ncbigene:3680 semapv:UnspecifiedMatching -OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:386 semapv:UnspecifiedMatching -OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:AKR1C3 semapv:UnspecifiedMatching -OMIM:603966 AKR1C3 skos:exactMatch ncbigene:8644 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C0221055 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C0238357 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C0752355 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C1419862 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C1858891 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C1868433 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C2750061 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C2931826 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C3280112 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C4016868 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch UMLS:C4016869 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:10591 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:SCN4A semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch ncbigene:6329 semapv:UnspecifiedMatching -OMIM:603968 POLH skos:exactMatch hgnc.symbol:9181 semapv:UnspecifiedMatching -OMIM:603968 POLH skos:exactMatch hgnc.symbol:POLH semapv:UnspecifiedMatching -OMIM:603968 POLH skos:exactMatch ncbigene:5429 semapv:UnspecifiedMatching -OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:11929 semapv:UnspecifiedMatching -OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:TNFSF13B semapv:UnspecifiedMatching -OMIM:603969 TNFSF13B skos:exactMatch ncbigene:10673 semapv:UnspecifiedMatching -OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:9159 semapv:UnspecifiedMatching -OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:PNMA2 semapv:UnspecifiedMatching -OMIM:603970 PNMA2 skos:exactMatch ncbigene:10687 semapv:UnspecifiedMatching -OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:13166 semapv:UnspecifiedMatching -OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:ZNF91 semapv:UnspecifiedMatching -OMIM:603971 ZNF91 skos:exactMatch ncbigene:7644 semapv:UnspecifiedMatching -OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:13109 semapv:UnspecifiedMatching -OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:ZNF43 semapv:UnspecifiedMatching -OMIM:603972 ZNF43 skos:exactMatch ncbigene:7594 semapv:UnspecifiedMatching -OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:13165 semapv:UnspecifiedMatching -OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:ZNF90 semapv:UnspecifiedMatching -OMIM:603973 ZNF90 skos:exactMatch ncbigene:7643 semapv:UnspecifiedMatching -OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:13168 semapv:UnspecifiedMatching -OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:ZNF92 semapv:UnspecifiedMatching -OMIM:603974 ZNF92 skos:exactMatch ncbigene:168374 semapv:UnspecifiedMatching -OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:13169 semapv:UnspecifiedMatching -OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:ZNF93 semapv:UnspecifiedMatching -OMIM:603975 ZNF93 skos:exactMatch ncbigene:81931 semapv:UnspecifiedMatching -OMIM:603976 zinc finger protein 94 skos:exactMatch UMLS:C1858876 semapv:UnspecifiedMatching -OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:12999 semapv:UnspecifiedMatching -OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:ZNF208 semapv:UnspecifiedMatching -OMIM:603977 ZNF208 skos:exactMatch ncbigene:7757 semapv:UnspecifiedMatching -OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:13172 semapv:UnspecifiedMatching -OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:ZSCAN12 semapv:UnspecifiedMatching -OMIM:603978 ZSCAN12 skos:exactMatch ncbigene:9753 semapv:UnspecifiedMatching -OMIM:603979 zinc finger protein 97 skos:exactMatch UMLS:C1421855 semapv:UnspecifiedMatching -OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:13174 semapv:UnspecifiedMatching -OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:ZNF98 semapv:UnspecifiedMatching -OMIM:603980 ZNF98 skos:exactMatch ncbigene:148198 semapv:UnspecifiedMatching -OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:13175 semapv:UnspecifiedMatching -OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:ZNF99 semapv:UnspecifiedMatching -OMIM:603981 ZNF99 skos:exactMatch ncbigene:7652 semapv:UnspecifiedMatching -OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:12880 semapv:UnspecifiedMatching -OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:ZNF100 semapv:UnspecifiedMatching -OMIM:603982 ZNF100 skos:exactMatch ncbigene:163227 semapv:UnspecifiedMatching -OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:12881 semapv:UnspecifiedMatching -OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:ZNF101 semapv:UnspecifiedMatching -OMIM:603983 ZNF101 skos:exactMatch ncbigene:94039 semapv:UnspecifiedMatching -OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:32468 semapv:UnspecifiedMatching -OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:ZNF737 semapv:UnspecifiedMatching -OMIM:603984 ZNF737 skos:exactMatch ncbigene:100129842 semapv:UnspecifiedMatching -OMIM:603985 zinc finger protein 103 skos:exactMatch UMLS:C1858873 semapv:UnspecifiedMatching -OMIM:603987 zinc finger protein 105 skos:exactMatch UMLS:C1858872 semapv:UnspecifiedMatching -OMIM:603988 zinc finger protein 106 skos:exactMatch UMLS:C1858871 semapv:UnspecifiedMatching -OMIM:603989 ZNF107 skos:exactMatch hgnc.symbol:12887 semapv:UnspecifiedMatching -OMIM:603989 ZNF107 skos:exactMatch hgnc.symbol:ZNF107 semapv:UnspecifiedMatching -OMIM:603989 ZNF107 skos:exactMatch ncbigene:51427 semapv:UnspecifiedMatching -OMIM:603991 zinc finger protein 109 skos:exactMatch UMLS:C1858870 semapv:UnspecifiedMatching -OMIM:603992 zinc finger protein 110 skos:exactMatch UMLS:C1858869 semapv:UnspecifiedMatching -OMIM:603993 zinc finger protein 111 skos:exactMatch UMLS:C1858868 semapv:UnspecifiedMatching -OMIM:603994 ZNF112 skos:exactMatch hgnc.symbol:12892 semapv:UnspecifiedMatching -OMIM:603994 ZNF112 skos:exactMatch hgnc.symbol:ZNF112 semapv:UnspecifiedMatching -OMIM:603994 ZNF112 skos:exactMatch ncbigene:7771 semapv:UnspecifiedMatching -OMIM:603995 zinc finger protein 113 skos:exactMatch UMLS:C1858866 semapv:UnspecifiedMatching -OMIM:603996 ZNF114 skos:exactMatch hgnc.symbol:12894 semapv:UnspecifiedMatching -OMIM:603996 ZNF114 skos:exactMatch hgnc.symbol:ZNF114 semapv:UnspecifiedMatching -OMIM:603996 ZNF114 skos:exactMatch ncbigene:163071 semapv:UnspecifiedMatching -OMIM:603997 zinc finger protein 118 skos:exactMatch UMLS:C1858865 semapv:UnspecifiedMatching -OMIM:603998 zinc finger protein 119 skos:exactMatch UMLS:C1858864 semapv:UnspecifiedMatching -OMIM:604000 zinc finger protein 122 skos:exactMatch UMLS:C1858862 semapv:UnspecifiedMatching -OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:379 semapv:UnspecifiedMatching -OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:AKAP9 semapv:UnspecifiedMatching -OMIM:604001 AKAP9 skos:exactMatch ncbigene:10142 semapv:UnspecifiedMatching -OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:10252 semapv:UnspecifiedMatching -OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:ROCK2 semapv:UnspecifiedMatching -OMIM:604002 ROCK2 skos:exactMatch ncbigene:9475 semapv:UnspecifiedMatching -OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:2016 semapv:UnspecifiedMatching -OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:CLCA2 semapv:UnspecifiedMatching -OMIM:604003 CLCA2 skos:exactMatch ncbigene:9635 semapv:UnspecifiedMatching -OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:9686 semapv:UnspecifiedMatching -OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:PTPRZ2 semapv:UnspecifiedMatching -OMIM:604008 PTPRZ2 skos:exactMatch ncbigene:5804 semapv:UnspecifiedMatching -OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:948 semapv:UnspecifiedMatching -OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:BAIAP3 semapv:UnspecifiedMatching -OMIM:604009 BAIAP3 skos:exactMatch ncbigene:8938 semapv:UnspecifiedMatching -OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:9158 semapv:UnspecifiedMatching -OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:PNMA1 semapv:UnspecifiedMatching -OMIM:604010 PNMA1 skos:exactMatch ncbigene:9240 semapv:UnspecifiedMatching -OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:12565 semapv:UnspecifiedMatching -OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:UNC119 semapv:UnspecifiedMatching -OMIM:604011 UNC119 skos:exactMatch ncbigene:9094 semapv:UnspecifiedMatching -OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:10143 semapv:UnspecifiedMatching -OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:SNORD20 semapv:UnspecifiedMatching -OMIM:604012 RNU20 skos:exactMatch ncbigene:6082 semapv:UnspecifiedMatching -OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:925 semapv:UnspecifiedMatching -OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:B4GALT2 semapv:UnspecifiedMatching -OMIM:604013 B4GALT2 skos:exactMatch ncbigene:8704 semapv:UnspecifiedMatching -OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:926 semapv:UnspecifiedMatching -OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:B4GALT3 semapv:UnspecifiedMatching -OMIM:604014 B4GALT3 skos:exactMatch ncbigene:8703 semapv:UnspecifiedMatching -OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:927 semapv:UnspecifiedMatching -OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:B4GALT4 semapv:UnspecifiedMatching -OMIM:604015 B4GALT4 skos:exactMatch ncbigene:8702 semapv:UnspecifiedMatching -OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:928 semapv:UnspecifiedMatching -OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:B4GALT5 semapv:UnspecifiedMatching -OMIM:604016 B4GALT5 skos:exactMatch ncbigene:9334 semapv:UnspecifiedMatching -OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:929 semapv:UnspecifiedMatching -OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:B4GALT6 semapv:UnspecifiedMatching -OMIM:604017 B4GALT6 skos:exactMatch ncbigene:9331 semapv:UnspecifiedMatching -OMIM:604018 NUMBL skos:exactMatch UMLS:C1417891 semapv:UnspecifiedMatching -OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:8061 semapv:UnspecifiedMatching -OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:NUMBL semapv:UnspecifiedMatching -OMIM:604018 NUMBL skos:exactMatch ncbigene:9253 semapv:UnspecifiedMatching -OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:5177 semapv:UnspecifiedMatching -OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:AGFG2 semapv:UnspecifiedMatching -OMIM:604019 AGFG2 skos:exactMatch ncbigene:3268 semapv:UnspecifiedMatching -OMIM:604020 BSN skos:exactMatch UMLS:C1412829 semapv:UnspecifiedMatching -OMIM:604020 BSN skos:exactMatch hgnc.symbol:1117 semapv:UnspecifiedMatching -OMIM:604020 BSN skos:exactMatch hgnc.symbol:BSN semapv:UnspecifiedMatching -OMIM:604020 BSN skos:exactMatch ncbigene:8927 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch UMLS:C1420205 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:11041 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:SLC5A6 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch ncbigene:8884 semapv:UnspecifiedMatching -OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:904 semapv:UnspecifiedMatching -OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:AXIN2 semapv:UnspecifiedMatching -OMIM:604025 AXIN2 skos:exactMatch ncbigene:8313 semapv:UnspecifiedMatching -OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:4430 semapv:UnspecifiedMatching -OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:GOSR1 semapv:UnspecifiedMatching -OMIM:604026 GOSR1 skos:exactMatch ncbigene:9527 semapv:UnspecifiedMatching -OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:4431 semapv:UnspecifiedMatching -OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:GOSR2 semapv:UnspecifiedMatching -OMIM:604027 GOSR2 skos:exactMatch ncbigene:9570 semapv:UnspecifiedMatching -OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:16828 semapv:UnspecifiedMatching -OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:SEC22C semapv:UnspecifiedMatching -OMIM:604028 SEC22C skos:exactMatch ncbigene:9117 semapv:UnspecifiedMatching -OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:10700 semapv:UnspecifiedMatching -OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:SEC22B semapv:UnspecifiedMatching -OMIM:604029 SEC22B skos:exactMatch ncbigene:9554 semapv:UnspecifiedMatching -OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:9544 semapv:UnspecifiedMatching -OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:PSMB7 semapv:UnspecifiedMatching -OMIM:604030 PSMB7 skos:exactMatch ncbigene:5695 semapv:UnspecifiedMatching -OMIM:604031 SCD skos:exactMatch hgnc.symbol:10571 semapv:UnspecifiedMatching -OMIM:604031 SCD skos:exactMatch hgnc.symbol:SCD semapv:UnspecifiedMatching -OMIM:604031 SCD skos:exactMatch ncbigene:6319 semapv:UnspecifiedMatching -OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:3255 semapv:UnspecifiedMatching -OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:EIF2AK3 semapv:UnspecifiedMatching -OMIM:604032 EIF2AK3 skos:exactMatch ncbigene:9451 semapv:UnspecifiedMatching -OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:3449 semapv:UnspecifiedMatching -OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:ERN1 semapv:UnspecifiedMatching -OMIM:604033 ERN1 skos:exactMatch ncbigene:2081 semapv:UnspecifiedMatching -OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:16942 semapv:UnspecifiedMatching -OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:ERN2 semapv:UnspecifiedMatching -OMIM:604034 ERN2 skos:exactMatch ncbigene:10595 semapv:UnspecifiedMatching -OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:2583 semapv:UnspecifiedMatching -OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:CYLC2 semapv:UnspecifiedMatching -OMIM:604035 CYLC2 skos:exactMatch ncbigene:1539 semapv:UnspecifiedMatching -OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:1577 semapv:UnspecifiedMatching -OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:CCNA1 semapv:UnspecifiedMatching -OMIM:604036 CCNA1 skos:exactMatch ncbigene:8900 semapv:UnspecifiedMatching -OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:9785 semapv:UnspecifiedMatching -OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:RAB5C semapv:UnspecifiedMatching -OMIM:604037 RAB5C skos:exactMatch ncbigene:5878 semapv:UnspecifiedMatching -OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:5322 semapv:UnspecifiedMatching -OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:HYAL3 semapv:UnspecifiedMatching -OMIM:604038 HYAL3 skos:exactMatch ncbigene:8372 semapv:UnspecifiedMatching -OMIM:604039 OGA skos:exactMatch hgnc.symbol:7056 semapv:UnspecifiedMatching -OMIM:604039 OGA skos:exactMatch hgnc.symbol:OGA semapv:UnspecifiedMatching -OMIM:604039 OGA skos:exactMatch ncbigene:10724 semapv:UnspecifiedMatching -OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:9816 semapv:UnspecifiedMatching -OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:RAD50 semapv:UnspecifiedMatching -OMIM:604040 RAD50 skos:exactMatch ncbigene:10111 semapv:UnspecifiedMatching -OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:7207 semapv:UnspecifiedMatching -OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:MPDU1 semapv:UnspecifiedMatching -OMIM:604041 MPDU1 skos:exactMatch ncbigene:9526 semapv:UnspecifiedMatching -OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:6135 semapv:UnspecifiedMatching -OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:ITGA10 semapv:UnspecifiedMatching -OMIM:604042 ITGA10 skos:exactMatch ncbigene:8515 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch UMLS:C1417672 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch UMLS:C3809954 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:7745 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:NEK2 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch ncbigene:4751 semapv:UnspecifiedMatching -OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:7746 semapv:UnspecifiedMatching -OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:NEK3 semapv:UnspecifiedMatching -OMIM:604044 NEK3 skos:exactMatch ncbigene:4752 semapv:UnspecifiedMatching -OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:10894 semapv:UnspecifiedMatching -OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:PRMT5 semapv:UnspecifiedMatching -OMIM:604045 PRMT5 skos:exactMatch ncbigene:10419 semapv:UnspecifiedMatching -OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:8508 semapv:UnspecifiedMatching -OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:OXSR1 semapv:UnspecifiedMatching -OMIM:604046 OXSR1 skos:exactMatch ncbigene:9943 semapv:UnspecifiedMatching -OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:8494 semapv:UnspecifiedMatching -OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:SLC22A13 semapv:UnspecifiedMatching -OMIM:604047 SLC22A13 skos:exactMatch ncbigene:9390 semapv:UnspecifiedMatching -OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:8495 semapv:UnspecifiedMatching -OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:SLC22A14 semapv:UnspecifiedMatching -OMIM:604048 SLC22A14 skos:exactMatch ncbigene:9389 semapv:UnspecifiedMatching -OMIM:604049 XYLB skos:exactMatch hgnc.symbol:12839 semapv:UnspecifiedMatching -OMIM:604049 XYLB skos:exactMatch hgnc.symbol:XYLB semapv:UnspecifiedMatching -OMIM:604049 XYLB skos:exactMatch ncbigene:9942 semapv:UnspecifiedMatching -OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:2899 semapv:UnspecifiedMatching -OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:DLEC1 semapv:UnspecifiedMatching -OMIM:604050 DLEC1 skos:exactMatch ncbigene:9940 semapv:UnspecifiedMatching -OMIM:604051 EXOG skos:exactMatch hgnc.symbol:3347 semapv:UnspecifiedMatching -OMIM:604051 EXOG skos:exactMatch hgnc.symbol:EXOG semapv:UnspecifiedMatching -OMIM:604051 EXOG skos:exactMatch ncbigene:9941 semapv:UnspecifiedMatching -OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:11931 semapv:UnspecifiedMatching -OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:TNFSF15 semapv:UnspecifiedMatching -OMIM:604052 TNFSF15 skos:exactMatch ncbigene:9966 semapv:UnspecifiedMatching -OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:1096 semapv:UnspecifiedMatching -OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:BPNT1 semapv:UnspecifiedMatching -OMIM:604053 BPNT1 skos:exactMatch ncbigene:10380 semapv:UnspecifiedMatching -OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:82 semapv:UnspecifiedMatching -OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:ACAA1 semapv:UnspecifiedMatching -OMIM:604054 ACAA1 skos:exactMatch ncbigene:30 semapv:UnspecifiedMatching -OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:5387 semapv:UnspecifiedMatching -OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:IDI1 semapv:UnspecifiedMatching -OMIM:604055 IDI1 skos:exactMatch ncbigene:3422 semapv:UnspecifiedMatching -OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:5195 semapv:UnspecifiedMatching -OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:HS3ST2 semapv:UnspecifiedMatching -OMIM:604056 HS3ST2 skos:exactMatch ncbigene:9956 semapv:UnspecifiedMatching -OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:5196 semapv:UnspecifiedMatching -OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:HS3ST3A1 semapv:UnspecifiedMatching -OMIM:604057 HS3ST3A1 skos:exactMatch ncbigene:9955 semapv:UnspecifiedMatching -OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:5198 semapv:UnspecifiedMatching -OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:HS3ST3B1 semapv:UnspecifiedMatching -OMIM:604058 HS3ST3B1 skos:exactMatch ncbigene:9953 semapv:UnspecifiedMatching -OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:5200 semapv:UnspecifiedMatching -OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:HS3ST4 semapv:UnspecifiedMatching -OMIM:604059 HS3ST4 skos:exactMatch ncbigene:9951 semapv:UnspecifiedMatching -OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:7323 semapv:UnspecifiedMatching -OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:SEPTIN9 semapv:UnspecifiedMatching -OMIM:604061 SEPT9 skos:exactMatch ncbigene:10801 semapv:UnspecifiedMatching -OMIM:604062 MED16 skos:exactMatch hgnc.symbol:17556 semapv:UnspecifiedMatching -OMIM:604062 MED16 skos:exactMatch hgnc.symbol:MED16 semapv:UnspecifiedMatching -OMIM:604062 MED16 skos:exactMatch ncbigene:10025 semapv:UnspecifiedMatching -OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:6144 semapv:UnspecifiedMatching -OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:ITGA8 semapv:UnspecifiedMatching -OMIM:604063 ITGA8 skos:exactMatch ncbigene:8516 semapv:UnspecifiedMatching -OMIM:604064 ATF4 skos:exactMatch UMLS:C1412617 semapv:UnspecifiedMatching -OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:786 semapv:UnspecifiedMatching -OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:ATF4 semapv:UnspecifiedMatching -OMIM:604064 ATF4 skos:exactMatch ncbigene:468 semapv:UnspecifiedMatching -OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:1394 semapv:UnspecifiedMatching -OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:CACNA1G semapv:UnspecifiedMatching -OMIM:604065 CACNA1G skos:exactMatch ncbigene:8913 semapv:UnspecifiedMatching -OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:920 semapv:UnspecifiedMatching -OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:B3GALT5 semapv:UnspecifiedMatching -OMIM:604066 B3GALT5 skos:exactMatch ncbigene:10317 semapv:UnspecifiedMatching -OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:10004 semapv:UnspecifiedMatching -OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:RGS9 semapv:UnspecifiedMatching -OMIM:604067 RGS9 skos:exactMatch ncbigene:8787 semapv:UnspecifiedMatching -OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:12005 semapv:UnspecifiedMatching -OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:TPD52 semapv:UnspecifiedMatching -OMIM:604068 TPD52 skos:exactMatch ncbigene:7163 semapv:UnspecifiedMatching -OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:12006 semapv:UnspecifiedMatching -OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:TPD52L1 semapv:UnspecifiedMatching -OMIM:604069 TPD52L1 skos:exactMatch ncbigene:7164 semapv:UnspecifiedMatching -OMIM:604070 DGKB skos:exactMatch hgnc.symbol:2850 semapv:UnspecifiedMatching -OMIM:604070 DGKB skos:exactMatch hgnc.symbol:DGKB semapv:UnspecifiedMatching -OMIM:604070 DGKB skos:exactMatch ncbigene:1607 semapv:UnspecifiedMatching -OMIM:604071 DGKH skos:exactMatch hgnc.symbol:2854 semapv:UnspecifiedMatching -OMIM:604071 DGKH skos:exactMatch hgnc.symbol:DGKH semapv:UnspecifiedMatching -OMIM:604071 DGKH skos:exactMatch ncbigene:160851 semapv:UnspecifiedMatching -OMIM:604072 DGKI skos:exactMatch hgnc.symbol:2855 semapv:UnspecifiedMatching -OMIM:604072 DGKI skos:exactMatch hgnc.symbol:DGKI semapv:UnspecifiedMatching -OMIM:604072 DGKI skos:exactMatch ncbigene:9162 semapv:UnspecifiedMatching -OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:12915 semapv:UnspecifiedMatching -OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:ZNF131 semapv:UnspecifiedMatching -OMIM:604073 ZNF131 skos:exactMatch ncbigene:7690 semapv:UnspecifiedMatching -OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:12916 semapv:UnspecifiedMatching -OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:ZNF132 semapv:UnspecifiedMatching -OMIM:604074 ZNF132 skos:exactMatch ncbigene:7691 semapv:UnspecifiedMatching -OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:12917 semapv:UnspecifiedMatching -OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:ZNF133 semapv:UnspecifiedMatching -OMIM:604075 ZNF133 skos:exactMatch ncbigene:7692 semapv:UnspecifiedMatching -OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:12918 semapv:UnspecifiedMatching -OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:ZNF134 semapv:UnspecifiedMatching -OMIM:604076 ZNF134 skos:exactMatch ncbigene:7693 semapv:UnspecifiedMatching -OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:12919 semapv:UnspecifiedMatching -OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:ZNF135 semapv:UnspecifiedMatching -OMIM:604077 ZNF135 skos:exactMatch ncbigene:7694 semapv:UnspecifiedMatching -OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:12920 semapv:UnspecifiedMatching -OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:ZNF136 semapv:UnspecifiedMatching -OMIM:604078 ZNF136 skos:exactMatch ncbigene:7695 semapv:UnspecifiedMatching -OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:12921 semapv:UnspecifiedMatching -OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:ZNF137P semapv:UnspecifiedMatching -OMIM:604079 ZNF137 skos:exactMatch ncbigene:7696 semapv:UnspecifiedMatching -OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:12922 semapv:UnspecifiedMatching -OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:ZNF138 semapv:UnspecifiedMatching -OMIM:604080 ZNF138 skos:exactMatch ncbigene:7697 semapv:UnspecifiedMatching -OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:12925 semapv:UnspecifiedMatching -OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:ZNF140 semapv:UnspecifiedMatching -OMIM:604082 ZNF140 skos:exactMatch ncbigene:7699 semapv:UnspecifiedMatching -OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:12927 semapv:UnspecifiedMatching -OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:ZNF142 semapv:UnspecifiedMatching -OMIM:604083 ZNF142 skos:exactMatch ncbigene:7701 semapv:UnspecifiedMatching -OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:12936 semapv:UnspecifiedMatching -OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:ZBTB17 semapv:UnspecifiedMatching -OMIM:604084 ZBTB17 skos:exactMatch ncbigene:7709 semapv:UnspecifiedMatching -OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:12939 semapv:UnspecifiedMatching -OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:ZNF154 semapv:UnspecifiedMatching -OMIM:604085 ZNF154 skos:exactMatch ncbigene:7710 semapv:UnspecifiedMatching -OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:12940 semapv:UnspecifiedMatching -OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:ZNF155 semapv:UnspecifiedMatching -OMIM:604086 ZNF155 skos:exactMatch ncbigene:7711 semapv:UnspecifiedMatching -OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:2641 semapv:UnspecifiedMatching -OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:CYP46A1 semapv:UnspecifiedMatching -OMIM:604087 CYP46A1 skos:exactMatch ncbigene:10858 semapv:UnspecifiedMatching -OMIM:604088 PPP1R17 skos:exactMatch hgnc.symbol:16973 semapv:UnspecifiedMatching -OMIM:604088 PPP1R17 skos:exactMatch hgnc.symbol:PPP1R17 semapv:UnspecifiedMatching -OMIM:604088 PPP1R17 skos:exactMatch ncbigene:10842 semapv:UnspecifiedMatching -OMIM:604089 HCST skos:exactMatch hgnc.symbol:16977 semapv:UnspecifiedMatching -OMIM:604089 HCST skos:exactMatch hgnc.symbol:HCST semapv:UnspecifiedMatching -OMIM:604089 HCST skos:exactMatch ncbigene:10870 semapv:UnspecifiedMatching -OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:2904 semapv:UnspecifiedMatching -OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:DLG5 semapv:UnspecifiedMatching -OMIM:604090 DLG5 skos:exactMatch ncbigene:9231 semapv:UnspecifiedMatching -OMIM:604092 TTK skos:exactMatch hgnc.symbol:12401 semapv:UnspecifiedMatching -OMIM:604092 TTK skos:exactMatch hgnc.symbol:TTK semapv:UnspecifiedMatching -OMIM:604092 TTK skos:exactMatch ncbigene:7272 semapv:UnspecifiedMatching -OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:6764 semapv:UnspecifiedMatching -OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:MAD2L2 semapv:UnspecifiedMatching -OMIM:604094 MAD2L2 skos:exactMatch ncbigene:10459 semapv:UnspecifiedMatching -OMIM:604095 EDAR skos:exactMatch hgnc.symbol:2895 semapv:UnspecifiedMatching -OMIM:604095 EDAR skos:exactMatch hgnc.symbol:EDAR semapv:UnspecifiedMatching -OMIM:604095 EDAR skos:exactMatch ncbigene:10913 semapv:UnspecifiedMatching -OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:4598 semapv:UnspecifiedMatching -OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:GRM6 semapv:UnspecifiedMatching -OMIM:604096 GRM6 skos:exactMatch ncbigene:2916 semapv:UnspecifiedMatching -OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:12636 semapv:UnspecifiedMatching -OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:UTS2 semapv:UnspecifiedMatching -OMIM:604097 UTS2 skos:exactMatch ncbigene:10911 semapv:UnspecifiedMatching -OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:16987 semapv:UnspecifiedMatching -OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:SUGT1 semapv:UnspecifiedMatching -OMIM:604098 SUGT1 skos:exactMatch ncbigene:10910 semapv:UnspecifiedMatching -OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:4594 semapv:UnspecifiedMatching -OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:GRM2 semapv:UnspecifiedMatching -OMIM:604099 GRM2 skos:exactMatch ncbigene:2912 semapv:UnspecifiedMatching -OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:4596 semapv:UnspecifiedMatching -OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:GRM4 semapv:UnspecifiedMatching -OMIM:604100 GRM4 skos:exactMatch ncbigene:2914 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch UMLS:C1415309 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:4599 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:GRM7 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch ncbigene:2917 semapv:UnspecifiedMatching -OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:4597 semapv:UnspecifiedMatching -OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:GRM5 semapv:UnspecifiedMatching -OMIM:604102 GRM5 skos:exactMatch ncbigene:2915 semapv:UnspecifiedMatching -OMIM:604103 MYOT skos:exactMatch hgnc.symbol:12399 semapv:UnspecifiedMatching -OMIM:604103 MYOT skos:exactMatch hgnc.symbol:MYOT semapv:UnspecifiedMatching -OMIM:604103 MYOT skos:exactMatch ncbigene:9499 semapv:UnspecifiedMatching -OMIM:604104 GMFG skos:exactMatch hgnc.symbol:4374 semapv:UnspecifiedMatching -OMIM:604104 GMFG skos:exactMatch hgnc.symbol:GMFG semapv:UnspecifiedMatching -OMIM:604104 GMFG skos:exactMatch ncbigene:9535 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch UMLS:C1420540 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:11490 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:SYCP2 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch ncbigene:10388 semapv:UnspecifiedMatching -OMIM:604106 GPR52 skos:exactMatch UMLS:C1415243 semapv:UnspecifiedMatching -OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:4508 semapv:UnspecifiedMatching -OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:GPR52 semapv:UnspecifiedMatching -OMIM:604106 GPR52 skos:exactMatch ncbigene:9293 semapv:UnspecifiedMatching -OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:4511 semapv:UnspecifiedMatching -OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:GPR55 semapv:UnspecifiedMatching -OMIM:604107 GPR55 skos:exactMatch ncbigene:9290 semapv:UnspecifiedMatching -OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:6869 semapv:UnspecifiedMatching -OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:MAP7 semapv:UnspecifiedMatching -OMIM:604108 MAP7 skos:exactMatch ncbigene:9053 semapv:UnspecifiedMatching -OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:4904 semapv:UnspecifiedMatching -OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:HHLA1 semapv:UnspecifiedMatching -OMIM:604109 HHLA1 skos:exactMatch ncbigene:10086 semapv:UnspecifiedMatching -OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:4512 semapv:UnspecifiedMatching -OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:ADGRG1 semapv:UnspecifiedMatching -OMIM:604110 ADGRG1 skos:exactMatch ncbigene:9289 semapv:UnspecifiedMatching -OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:6230 semapv:UnspecifiedMatching -OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:KCNAB3 semapv:UnspecifiedMatching -OMIM:604111 KCNAB3 skos:exactMatch ncbigene:9196 semapv:UnspecifiedMatching -OMIM:604112 SCEL skos:exactMatch hgnc.symbol:10573 semapv:UnspecifiedMatching -OMIM:604112 SCEL skos:exactMatch hgnc.symbol:SCEL semapv:UnspecifiedMatching -OMIM:604112 SCEL skos:exactMatch ncbigene:8796 semapv:UnspecifiedMatching -OMIM:604113 IL18BP skos:exactMatch UMLS:C1416392 semapv:UnspecifiedMatching -OMIM:604113 IL18BP skos:exactMatch UMLS:C5231406 semapv:UnspecifiedMatching -OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:5987 semapv:UnspecifiedMatching -OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:IL18BP semapv:UnspecifiedMatching -OMIM:604113 IL18BP skos:exactMatch ncbigene:10068 semapv:UnspecifiedMatching -OMIM:604114 PLCB2 skos:exactMatch hgnc.symbol:9055 semapv:UnspecifiedMatching -OMIM:604114 PLCB2 skos:exactMatch hgnc.symbol:PLCB2 semapv:UnspecifiedMatching -OMIM:604114 PLCB2 skos:exactMatch ncbigene:5330 semapv:UnspecifiedMatching -OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc.symbol:6295 semapv:UnspecifiedMatching -OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc.symbol:KCNQ1OT1 semapv:UnspecifiedMatching -OMIM:604115 KCNQ1OT1 skos:exactMatch ncbigene:10984 semapv:UnspecifiedMatching -OMIM:604116 cone-rod dystrophy 3 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching -OMIM:604116 cone-rod dystrophy 3 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching -OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch Orphanet:79395 semapv:UnspecifiedMatching -OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch UMLS:C1858805 semapv:UnspecifiedMatching -OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:9873 semapv:UnspecifiedMatching -OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:RASAL1 semapv:UnspecifiedMatching -OMIM:604118 RASAL1 skos:exactMatch ncbigene:8437 semapv:UnspecifiedMatching -OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:10913 semapv:UnspecifiedMatching -OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:SLC12A4 semapv:UnspecifiedMatching -OMIM:604119 SLC12A4 skos:exactMatch ncbigene:6560 semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch UMLS:C1418560 semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch hgnc.symbol:8959 semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch hgnc.symbol:PIGB semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch ncbigene:9488 semapv:UnspecifiedMatching -OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:18466 semapv:UnspecifiedMatching -OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:RNASEH1 semapv:UnspecifiedMatching -OMIM:604123 RNASEH1 skos:exactMatch ncbigene:246243 semapv:UnspecifiedMatching -OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:9891 semapv:UnspecifiedMatching -OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:RBBP8 semapv:UnspecifiedMatching -OMIM:604124 RBBP8 skos:exactMatch ncbigene:5932 semapv:UnspecifiedMatching -OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:11459 semapv:UnspecifiedMatching -OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:SULT2B1 semapv:UnspecifiedMatching -OMIM:604125 SULT2B1 skos:exactMatch ncbigene:6820 semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch UMLS:C1420533 semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch hgnc.symbol:11480 semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch hgnc.symbol:SVIL semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch ncbigene:6840 semapv:UnspecifiedMatching -OMIM:604127 TBX15 skos:exactMatch UMLS:C1420605 semapv:UnspecifiedMatching -OMIM:604127 TBX15 skos:exactMatch UMLS:C1850040 semapv:UnspecifiedMatching -OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:11594 semapv:UnspecifiedMatching -OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:TBX15 semapv:UnspecifiedMatching -OMIM:604127 TBX15 skos:exactMatch ncbigene:6913 semapv:UnspecifiedMatching -OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:11615 semapv:UnspecifiedMatching -OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:TCEA3 semapv:UnspecifiedMatching -OMIM:604128 TCEA3 skos:exactMatch ncbigene:6920 semapv:UnspecifiedMatching -OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:12634 semapv:UnspecifiedMatching -OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:UTF1 semapv:UnspecifiedMatching -OMIM:604130 UTF1 skos:exactMatch ncbigene:8433 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1413036 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C5394574 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:1366 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:ADAMTS13 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch ncbigene:11093 semapv:UnspecifiedMatching -OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:7783 semapv:UnspecifiedMatching -OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:NFE2L3 semapv:UnspecifiedMatching -OMIM:604135 NFE2L3 skos:exactMatch ncbigene:9603 semapv:UnspecifiedMatching -OMIM:604136 IL24 skos:exactMatch hgnc.symbol:11346 semapv:UnspecifiedMatching -OMIM:604136 IL24 skos:exactMatch hgnc.symbol:IL24 semapv:UnspecifiedMatching -OMIM:604136 IL24 skos:exactMatch ncbigene:11009 semapv:UnspecifiedMatching -OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:9836 semapv:UnspecifiedMatching -OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:GPRC5A semapv:UnspecifiedMatching -OMIM:604138 GPRC5A skos:exactMatch ncbigene:9052 semapv:UnspecifiedMatching -OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:5228 semapv:UnspecifiedMatching -OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:DNAJB2 semapv:UnspecifiedMatching -OMIM:604139 DNAJB2 skos:exactMatch ncbigene:3300 semapv:UnspecifiedMatching -OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:2680 semapv:UnspecifiedMatching -OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:DIDO1 semapv:UnspecifiedMatching -OMIM:604140 DIDO1 skos:exactMatch ncbigene:11083 semapv:UnspecifiedMatching -OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:15772 semapv:UnspecifiedMatching -OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:ARFGEF1 semapv:UnspecifiedMatching -OMIM:604141 ARFGEF1 skos:exactMatch ncbigene:10565 semapv:UnspecifiedMatching -OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:12449 semapv:UnspecifiedMatching -OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:TYROBP semapv:UnspecifiedMatching -OMIM:604142 TYROBP skos:exactMatch ncbigene:7305 semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch UMLS:C1424597 semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:16856 semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:ESPL1 semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch ncbigene:9700 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C0010691 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C1420228 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:11067 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:SLC7A9 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch ncbigene:11136 semapv:UnspecifiedMatching -OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:11514 semapv:UnspecifiedMatching -OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:SYT7 semapv:UnspecifiedMatching -OMIM:604146 SYT7 skos:exactMatch ncbigene:9066 semapv:UnspecifiedMatching -OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:9690 semapv:UnspecifiedMatching -OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:PTTG1 semapv:UnspecifiedMatching -OMIM:604147 PTTG1 skos:exactMatch ncbigene:9232 semapv:UnspecifiedMatching -OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:10917 semapv:UnspecifiedMatching -OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:SLC13A2 semapv:UnspecifiedMatching -OMIM:604148 SLC13A2 skos:exactMatch ncbigene:9058 semapv:UnspecifiedMatching -OMIM:604149 SGCE skos:exactMatch hgnc.symbol:10808 semapv:UnspecifiedMatching -OMIM:604149 SGCE skos:exactMatch hgnc.symbol:SGCE semapv:UnspecifiedMatching -OMIM:604149 SGCE skos:exactMatch ncbigene:8910 semapv:UnspecifiedMatching -OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:9197 semapv:UnspecifiedMatching -OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:POLR2J semapv:UnspecifiedMatching -OMIM:604150 POLR2J skos:exactMatch ncbigene:5439 semapv:UnspecifiedMatching -OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:12479 semapv:UnspecifiedMatching -OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:UBE2E3 semapv:UnspecifiedMatching -OMIM:604151 UBE2E3 skos:exactMatch ncbigene:10477 semapv:UnspecifiedMatching -OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:8096 semapv:UnspecifiedMatching -OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:OAZ2 semapv:UnspecifiedMatching -OMIM:604152 OAZ2 skos:exactMatch ncbigene:4947 semapv:UnspecifiedMatching -OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:4518 semapv:UnspecifiedMatching -OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:NMUR1 semapv:UnspecifiedMatching -OMIM:604153 NMUR1 skos:exactMatch ncbigene:10316 semapv:UnspecifiedMatching -OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:6508 semapv:UnspecifiedMatching -OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:LANCL1 semapv:UnspecifiedMatching -OMIM:604155 LANCL1 skos:exactMatch ncbigene:10314 semapv:UnspecifiedMatching -OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:10776 semapv:UnspecifiedMatching -OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:SFRP1 semapv:UnspecifiedMatching -OMIM:604156 SFRP1 skos:exactMatch ncbigene:6422 semapv:UnspecifiedMatching -OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:10777 semapv:UnspecifiedMatching -OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:SFRP2 semapv:UnspecifiedMatching -OMIM:604157 SFRP2 skos:exactMatch ncbigene:6423 semapv:UnspecifiedMatching -OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:10779 semapv:UnspecifiedMatching -OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:SFRP5 semapv:UnspecifiedMatching -OMIM:604158 SFRP5 skos:exactMatch ncbigene:6425 semapv:UnspecifiedMatching -OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:11051 semapv:UnspecifiedMatching -OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:SLC6A5 semapv:UnspecifiedMatching -OMIM:604159 SLC6A5 skos:exactMatch ncbigene:9152 semapv:UnspecifiedMatching -OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:6163 semapv:UnspecifiedMatching -OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:ITGB8 semapv:UnspecifiedMatching -OMIM:604160 ITGB8 skos:exactMatch ncbigene:3696 semapv:UnspecifiedMatching -OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:4510 semapv:UnspecifiedMatching -OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:KISS1R semapv:UnspecifiedMatching -OMIM:604161 KISS1R skos:exactMatch ncbigene:84634 semapv:UnspecifiedMatching -OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:10332 semapv:UnspecifiedMatching -OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:RPL3 semapv:UnspecifiedMatching -OMIM:604163 RPL3 skos:exactMatch ncbigene:6122 semapv:UnspecifiedMatching -OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:8138 semapv:UnspecifiedMatching -OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:ONECUT1 semapv:UnspecifiedMatching -OMIM:604164 ONECUT1 skos:exactMatch ncbigene:3175 semapv:UnspecifiedMatching -OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:10981 semapv:UnspecifiedMatching -OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:SLC25A11 semapv:UnspecifiedMatching -OMIM:604165 SLC25A11 skos:exactMatch ncbigene:8402 semapv:UnspecifiedMatching -OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:10363 semapv:UnspecifiedMatching -OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:RPL7 semapv:UnspecifiedMatching -OMIM:604166 RPL7 skos:exactMatch ncbigene:6129 semapv:UnspecifiedMatching -OMIM:604167 CTCF skos:exactMatch UMLS:C1422163 semapv:UnspecifiedMatching -OMIM:604167 CTCF skos:exactMatch UMLS:C3809686 semapv:UnspecifiedMatching -OMIM:604167 CTCF skos:exactMatch hgnc.symbol:13723 semapv:UnspecifiedMatching -OMIM:604167 CTCF skos:exactMatch hgnc.symbol:CTCF semapv:UnspecifiedMatching -OMIM:604167 CTCF skos:exactMatch ncbigene:10664 semapv:UnspecifiedMatching -OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:9092 semapv:UnspecifiedMatching -OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:PLSCR1 semapv:UnspecifiedMatching -OMIM:604170 PLSCR1 skos:exactMatch ncbigene:5359 semapv:UnspecifiedMatching -OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:19071 semapv:UnspecifiedMatching -OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:ALYREF semapv:UnspecifiedMatching -OMIM:604171 ALYREF skos:exactMatch ncbigene:10189 semapv:UnspecifiedMatching -OMIM:604173 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 semapv:UnspecifiedMatching -OMIM:604173 poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 semapv:UnspecifiedMatching -OMIM:604174 RPL15 skos:exactMatch UMLS:C1419632 semapv:UnspecifiedMatching -OMIM:604174 RPL15 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching -OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:10306 semapv:UnspecifiedMatching -OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:RPL15 semapv:UnspecifiedMatching -OMIM:604174 RPL15 skos:exactMatch ncbigene:6138 semapv:UnspecifiedMatching -OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:10301 semapv:UnspecifiedMatching -OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:RPL11 semapv:UnspecifiedMatching -OMIM:604175 RPL11 skos:exactMatch ncbigene:6135 semapv:UnspecifiedMatching -OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:19391 semapv:UnspecifiedMatching -OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:SOCS3 semapv:UnspecifiedMatching -OMIM:604176 SOCS3 skos:exactMatch ncbigene:9021 semapv:UnspecifiedMatching -OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:10368 semapv:UnspecifiedMatching -OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:RPL8 semapv:UnspecifiedMatching -OMIM:604177 RPL8 skos:exactMatch ncbigene:6132 semapv:UnspecifiedMatching -OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:10311 semapv:UnspecifiedMatching -OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:RPL18A semapv:UnspecifiedMatching -OMIM:604178 RPL18A skos:exactMatch ncbigene:6142 semapv:UnspecifiedMatching -OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:10310 semapv:UnspecifiedMatching -OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:RPL18 semapv:UnspecifiedMatching -OMIM:604179 RPL18 skos:exactMatch ncbigene:6141 semapv:UnspecifiedMatching -OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:10325 semapv:UnspecifiedMatching -OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:RPL24 semapv:UnspecifiedMatching -OMIM:604180 RPL24 skos:exactMatch ncbigene:6152 semapv:UnspecifiedMatching -OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:10347 semapv:UnspecifiedMatching -OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:RPL37 semapv:UnspecifiedMatching -OMIM:604181 RPL37 skos:exactMatch ncbigene:6167 semapv:UnspecifiedMatching -OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:10349 semapv:UnspecifiedMatching -OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:RPL38 semapv:UnspecifiedMatching -OMIM:604182 RPL38 skos:exactMatch ncbigene:6169 semapv:UnspecifiedMatching -OMIM:604184 PUNC skos:exactMatch hgnc.symbol:9700 semapv:UnspecifiedMatching -OMIM:604184 PUNC skos:exactMatch hgnc.symbol:IGDCC3 semapv:UnspecifiedMatching -OMIM:604184 PUNC skos:exactMatch ncbigene:9543 semapv:UnspecifiedMatching -OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:10640 semapv:UnspecifiedMatching -OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:CXCL14 semapv:UnspecifiedMatching -OMIM:604186 CXCL14 skos:exactMatch ncbigene:9547 semapv:UnspecifiedMatching -OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:10719 semapv:UnspecifiedMatching -OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:SELENBP1 semapv:UnspecifiedMatching -OMIM:604188 SELENBP1 skos:exactMatch ncbigene:8991 semapv:UnspecifiedMatching -OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:5271 semapv:UnspecifiedMatching -OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:DNAJC4 semapv:UnspecifiedMatching -OMIM:604189 DNAJC4 skos:exactMatch ncbigene:3338 semapv:UnspecifiedMatching -OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:10968 semapv:UnspecifiedMatching -OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:SLC22A4 semapv:UnspecifiedMatching -OMIM:604190 SLC22A4 skos:exactMatch ncbigene:6583 semapv:UnspecifiedMatching -OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:13056 semapv:UnspecifiedMatching -OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:ZNF263 semapv:UnspecifiedMatching -OMIM:604191 ZNF263 skos:exactMatch ncbigene:10127 semapv:UnspecifiedMatching -OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:10997 semapv:UnspecifiedMatching -OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:SLC27A3 semapv:UnspecifiedMatching -OMIM:604193 SLC27A3 skos:exactMatch ncbigene:11000 semapv:UnspecifiedMatching -OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:10998 semapv:UnspecifiedMatching -OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:SLC27A4 semapv:UnspecifiedMatching -OMIM:604194 SLC27A4 skos:exactMatch ncbigene:10999 semapv:UnspecifiedMatching -OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:11000 semapv:UnspecifiedMatching -OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:SLC27A6 semapv:UnspecifiedMatching -OMIM:604196 SLC27A6 skos:exactMatch ncbigene:28965 semapv:UnspecifiedMatching -OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:7437 semapv:UnspecifiedMatching -OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:MTHFS semapv:UnspecifiedMatching -OMIM:604197 MTHFS skos:exactMatch ncbigene:10588 semapv:UnspecifiedMatching -OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:9761 semapv:UnspecifiedMatching -OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:RAB11B semapv:UnspecifiedMatching -OMIM:604198 RAB11B skos:exactMatch ncbigene:9230 semapv:UnspecifiedMatching -OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:9774 semapv:UnspecifiedMatching -OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:RAB35 semapv:UnspecifiedMatching -OMIM:604199 RAB35 skos:exactMatch ncbigene:11021 semapv:UnspecifiedMatching -OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:10874 semapv:UnspecifiedMatching -OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:SIGLEC5 semapv:UnspecifiedMatching -OMIM:604200 SIGLEC5 skos:exactMatch ncbigene:8778 semapv:UnspecifiedMatching -OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:11133 semapv:UnspecifiedMatching -OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:SNAP29 semapv:UnspecifiedMatching -OMIM:604202 SNAP29 skos:exactMatch ncbigene:9342 semapv:UnspecifiedMatching -OMIM:604203 STX8 skos:exactMatch hgnc.symbol:11443 semapv:UnspecifiedMatching -OMIM:604203 STX8 skos:exactMatch hgnc.symbol:STX8 semapv:UnspecifiedMatching -OMIM:604203 STX8 skos:exactMatch ncbigene:9482 semapv:UnspecifiedMatching -OMIM:604204 STX17 skos:exactMatch hgnc.symbol:11432 semapv:UnspecifiedMatching -OMIM:604204 STX17 skos:exactMatch hgnc.symbol:STX17 semapv:UnspecifiedMatching -OMIM:604204 STX17 skos:exactMatch ncbigene:55014 semapv:UnspecifiedMatching -OMIM:604205 CPNE1 skos:exactMatch UMLS:C1413675 semapv:UnspecifiedMatching -OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:2314 semapv:UnspecifiedMatching -OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:CPNE1 semapv:UnspecifiedMatching -OMIM:604205 CPNE1 skos:exactMatch ncbigene:8904 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch UMLS:C1413676 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:2315 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:CPNE2 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch ncbigene:221184 semapv:UnspecifiedMatching -OMIM:604207 CPNE3 skos:exactMatch UMLS:C1413677 semapv:UnspecifiedMatching -OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:2316 semapv:UnspecifiedMatching -OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:CPNE3 semapv:UnspecifiedMatching -OMIM:604207 CPNE3 skos:exactMatch ncbigene:8895 semapv:UnspecifiedMatching -OMIM:604208 CPNE4 skos:exactMatch UMLS:C1413678 semapv:UnspecifiedMatching -OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:2317 semapv:UnspecifiedMatching -OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:CPNE4 semapv:UnspecifiedMatching -OMIM:604208 CPNE4 skos:exactMatch ncbigene:131034 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch UMLS:C1413679 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:2318 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:CPNE5 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch ncbigene:57699 semapv:UnspecifiedMatching -OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:2343 semapv:UnspecifiedMatching -OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:CRB1 semapv:UnspecifiedMatching -OMIM:604210 CRB1 skos:exactMatch ncbigene:23418 semapv:UnspecifiedMatching -OMIM:604212 PARN skos:exactMatch hgnc.symbol:8609 semapv:UnspecifiedMatching -OMIM:604212 PARN skos:exactMatch hgnc.symbol:PARN semapv:UnspecifiedMatching -OMIM:604212 PARN skos:exactMatch ncbigene:5073 semapv:UnspecifiedMatching -OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:1573 semapv:UnspecifiedMatching -OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:KRIT1 semapv:UnspecifiedMatching -OMIM:604214 KRIT1 skos:exactMatch ncbigene:889 semapv:UnspecifiedMatching -OMIM:604215 ING2 skos:exactMatch hgnc.symbol:6063 semapv:UnspecifiedMatching -OMIM:604215 ING2 skos:exactMatch hgnc.symbol:ING2 semapv:UnspecifiedMatching -OMIM:604215 ING2 skos:exactMatch ncbigene:3622 semapv:UnspecifiedMatching -OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:10932 semapv:UnspecifiedMatching -OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:SLC17A4 semapv:UnspecifiedMatching -OMIM:604216 SLC17A4 skos:exactMatch ncbigene:10050 semapv:UnspecifiedMatching -OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:11020 semapv:UnspecifiedMatching -OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:SLC34A2 semapv:UnspecifiedMatching -OMIM:604217 SLC34A2 skos:exactMatch ncbigene:10568 semapv:UnspecifiedMatching -OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:703 semapv:UnspecifiedMatching -OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:ARPC1A semapv:UnspecifiedMatching -OMIM:604220 ARPC1A skos:exactMatch ncbigene:10552 semapv:UnspecifiedMatching -OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:169 semapv:UnspecifiedMatching -OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:ACTR2 semapv:UnspecifiedMatching -OMIM:604221 ACTR2 skos:exactMatch ncbigene:10097 semapv:UnspecifiedMatching -OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:170 semapv:UnspecifiedMatching -OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:ACTR3 semapv:UnspecifiedMatching -OMIM:604222 ACTR3 skos:exactMatch ncbigene:10096 semapv:UnspecifiedMatching -OMIM:604223 ARPC1B skos:exactMatch UMLS:C1412546 semapv:UnspecifiedMatching -OMIM:604223 ARPC1B skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching -OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:704 semapv:UnspecifiedMatching -OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:ARPC1B semapv:UnspecifiedMatching -OMIM:604223 ARPC1B skos:exactMatch ncbigene:10095 semapv:UnspecifiedMatching -OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:705 semapv:UnspecifiedMatching -OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:ARPC2 semapv:UnspecifiedMatching -OMIM:604224 ARPC2 skos:exactMatch ncbigene:10109 semapv:UnspecifiedMatching -OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:706 semapv:UnspecifiedMatching -OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:ARPC3 semapv:UnspecifiedMatching -OMIM:604225 ARPC3 skos:exactMatch ncbigene:10094 semapv:UnspecifiedMatching -OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:707 semapv:UnspecifiedMatching -OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:ARPC4 semapv:UnspecifiedMatching -OMIM:604226 ARPC4 skos:exactMatch ncbigene:10093 semapv:UnspecifiedMatching -OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:708 semapv:UnspecifiedMatching -OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:ARPC5 semapv:UnspecifiedMatching -OMIM:604227 ARPC5 skos:exactMatch ncbigene:10092 semapv:UnspecifiedMatching -OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch Orphanet:708 semapv:UnspecifiedMatching -OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch UMLS:C4310809 semapv:UnspecifiedMatching -OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:228 semapv:UnspecifiedMatching -OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:ADAT1 semapv:UnspecifiedMatching -OMIM:604230 ADAT1 skos:exactMatch ncbigene:23536 semapv:UnspecifiedMatching -OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:9691 semapv:UnspecifiedMatching -OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:PTTG2 semapv:UnspecifiedMatching -OMIM:604231 PTTG2 skos:exactMatch ncbigene:10744 semapv:UnspecifiedMatching -OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching -OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching -OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:6164 semapv:UnspecifiedMatching -OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:ITGBL1 semapv:UnspecifiedMatching -OMIM:604234 ITGBL1 skos:exactMatch ncbigene:9358 semapv:UnspecifiedMatching -OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:11066 semapv:UnspecifiedMatching -OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:SLC7A8 semapv:UnspecifiedMatching -OMIM:604235 SLC7A8 skos:exactMatch ncbigene:23428 semapv:UnspecifiedMatching -OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:2364 semapv:UnspecifiedMatching -OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:CRLF1 semapv:UnspecifiedMatching -OMIM:604237 CRLF1 skos:exactMatch ncbigene:9244 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch UMLS:C1420267 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:11128 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:SNAI1 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch ncbigene:6615 semapv:UnspecifiedMatching -OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:9578 semapv:UnspecifiedMatching -OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:PSPHP1 semapv:UnspecifiedMatching -OMIM:604239 PSPHL skos:exactMatch ncbigene:8781 semapv:UnspecifiedMatching -OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:5057 semapv:UnspecifiedMatching -OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:TLX2 semapv:UnspecifiedMatching -OMIM:604240 TLX2 skos:exactMatch ncbigene:3196 semapv:UnspecifiedMatching -OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:14258 semapv:UnspecifiedMatching -OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:CD2AP semapv:UnspecifiedMatching -OMIM:604241 CD2AP skos:exactMatch ncbigene:23607 semapv:UnspecifiedMatching -OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:10069 semapv:UnspecifiedMatching -OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:RNF6 semapv:UnspecifiedMatching -OMIM:604242 RNF6 skos:exactMatch ncbigene:6049 semapv:UnspecifiedMatching -OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:10469 semapv:UnspecifiedMatching -OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:RTN3 semapv:UnspecifiedMatching -OMIM:604249 RTN3 skos:exactMatch ncbigene:10313 semapv:UnspecifiedMatching -OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:24187 semapv:UnspecifiedMatching -OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:CABIN1 semapv:UnspecifiedMatching -OMIM:604251 calcineurin-binding protein 1 skos:exactMatch ncbigene:23523 semapv:UnspecifiedMatching -OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:933 semapv:UnspecifiedMatching -OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:BACE1 semapv:UnspecifiedMatching -OMIM:604252 BACE1 skos:exactMatch ncbigene:23621 semapv:UnspecifiedMatching -OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:2456 semapv:UnspecifiedMatching -OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:CSNK1G3 semapv:UnspecifiedMatching -OMIM:604253 CSNK1G3 skos:exactMatch ncbigene:1456 semapv:UnspecifiedMatching -OMIM:604255 LBX1 skos:exactMatch UMLS:C1825796 semapv:UnspecifiedMatching -OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:16960 semapv:UnspecifiedMatching -OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:LBX1 semapv:UnspecifiedMatching -OMIM:604255 LBX1 skos:exactMatch ncbigene:10660 semapv:UnspecifiedMatching -OMIM:604256 BHLHE40 skos:exactMatch UMLS:C1412793 semapv:UnspecifiedMatching -OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:1046 semapv:UnspecifiedMatching -OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:BHLHE40 semapv:UnspecifiedMatching -OMIM:604256 BHLHE40 skos:exactMatch ncbigene:8553 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch UMLS:C1366509 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:2897 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:DLC1 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch ncbigene:10395 semapv:UnspecifiedMatching -OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:9106 semapv:UnspecifiedMatching -OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:PLXNC1 semapv:UnspecifiedMatching -OMIM:604259 PLXNC1 skos:exactMatch ncbigene:10154 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch UMLS:C1335876 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:11367 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:STAT5B semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch ncbigene:6777 semapv:UnspecifiedMatching -OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:589 semapv:UnspecifiedMatching -OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:ATG5 semapv:UnspecifiedMatching -OMIM:604261 ATG5 skos:exactMatch ncbigene:9474 semapv:UnspecifiedMatching -OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:580 semapv:UnspecifiedMatching -OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:APBA3 semapv:UnspecifiedMatching -OMIM:604262 APBA3 skos:exactMatch ncbigene:9546 semapv:UnspecifiedMatching -OMIM:604263 PRND skos:exactMatch hgnc.symbol:15748 semapv:UnspecifiedMatching -OMIM:604263 PRND skos:exactMatch hgnc.symbol:PRND semapv:UnspecifiedMatching -OMIM:604263 PRND skos:exactMatch ncbigene:23627 semapv:UnspecifiedMatching -OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:3230 semapv:UnspecifiedMatching -OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:CELSR3 semapv:UnspecifiedMatching -OMIM:604264 CELSR3 skos:exactMatch ncbigene:1951 semapv:UnspecifiedMatching -OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:3231 semapv:UnspecifiedMatching -OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:CELSR2 semapv:UnspecifiedMatching -OMIM:604265 CELSR2 skos:exactMatch ncbigene:1952 semapv:UnspecifiedMatching -OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:3232 semapv:UnspecifiedMatching -OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:MEGF6 semapv:UnspecifiedMatching -OMIM:604266 MEGF6 skos:exactMatch ncbigene:1953 semapv:UnspecifiedMatching -OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:3233 semapv:UnspecifiedMatching -OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:MEGF8 semapv:UnspecifiedMatching -OMIM:604267 MEGF8 skos:exactMatch ncbigene:1954 semapv:UnspecifiedMatching -OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:3234 semapv:UnspecifiedMatching -OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:MEGF9 semapv:UnspecifiedMatching -OMIM:604268 MEGF9 skos:exactMatch ncbigene:1955 semapv:UnspecifiedMatching -OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:3596 semapv:UnspecifiedMatching -OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:FAT2 semapv:UnspecifiedMatching -OMIM:604269 FAT2 skos:exactMatch ncbigene:2196 semapv:UnspecifiedMatching -OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:6696 semapv:UnspecifiedMatching -OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:LRP4 semapv:UnspecifiedMatching -OMIM:604270 LRP4 skos:exactMatch ncbigene:4038 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch UMLS:C1419873 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch UMLS:C1837148 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:10604 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:SCO2 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch ncbigene:9997 semapv:UnspecifiedMatching -OMIM:604274 KLRA1P skos:exactMatch UMLS:C1334309 semapv:UnspecifiedMatching -OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:6372 semapv:UnspecifiedMatching -OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:KLRA1P semapv:UnspecifiedMatching -OMIM:604274 KLRA1P skos:exactMatch ncbigene:10748 semapv:UnspecifiedMatching -OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:2516 semapv:UnspecifiedMatching -OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:CTNND2 semapv:UnspecifiedMatching -OMIM:604275 CTNND2 skos:exactMatch ncbigene:1501 semapv:UnspecifiedMatching -OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:9026 semapv:UnspecifiedMatching -OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:PKP4 semapv:UnspecifiedMatching -OMIM:604276 PKP4 skos:exactMatch ncbigene:8502 semapv:UnspecifiedMatching -OMIM:604277 SPAST skos:exactMatch hgnc.symbol:11233 semapv:UnspecifiedMatching -OMIM:604277 SPAST skos:exactMatch hgnc.symbol:SPAST semapv:UnspecifiedMatching -OMIM:604277 SPAST skos:exactMatch ncbigene:6683 semapv:UnspecifiedMatching -OMIM:604279 JMY skos:exactMatch hgnc.symbol:28916 semapv:UnspecifiedMatching -OMIM:604279 JMY skos:exactMatch hgnc.symbol:JMY semapv:UnspecifiedMatching -OMIM:604279 JMY skos:exactMatch ncbigene:133746 semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch UMLS:C1826602 semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:9102 semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:PLXNA4 semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch ncbigene:91584 semapv:UnspecifiedMatching -OMIM:604281 DBF4 skos:exactMatch UMLS:C1332118 semapv:UnspecifiedMatching -OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:17364 semapv:UnspecifiedMatching -OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:DBF4 semapv:UnspecifiedMatching -OMIM:604281 DBF4 skos:exactMatch ncbigene:10926 semapv:UnspecifiedMatching -OMIM:604282 PLXND1 skos:exactMatch UMLS:C1418668 semapv:UnspecifiedMatching -OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:9107 semapv:UnspecifiedMatching -OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:PLXND1 semapv:UnspecifiedMatching -OMIM:604282 PLXND1 skos:exactMatch ncbigene:23129 semapv:UnspecifiedMatching -OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:9364 semapv:UnspecifiedMatching -OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:PRG4 semapv:UnspecifiedMatching -OMIM:604283 PRG4 skos:exactMatch ncbigene:10216 semapv:UnspecifiedMatching -OMIM:604285 AGXT skos:exactMatch hgnc.symbol:341 semapv:UnspecifiedMatching -OMIM:604285 AGXT skos:exactMatch hgnc.symbol:AGXT semapv:UnspecifiedMatching -OMIM:604285 AGXT skos:exactMatch ncbigene:189 semapv:UnspecifiedMatching -OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:17228 semapv:UnspecifiedMatching -OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:RAD54B semapv:UnspecifiedMatching -OMIM:604289 RAD54B skos:exactMatch ncbigene:25788 semapv:UnspecifiedMatching -OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:9104 semapv:UnspecifiedMatching -OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:PLXNB2 semapv:UnspecifiedMatching -OMIM:604293 PLXNB2 skos:exactMatch ncbigene:23654 semapv:UnspecifiedMatching -OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:12660 semapv:UnspecifiedMatching -OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:VAX1 semapv:UnspecifiedMatching -OMIM:604294 VAX1 skos:exactMatch ncbigene:11023 semapv:UnspecifiedMatching -OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:12661 semapv:UnspecifiedMatching -OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:VAX2 semapv:UnspecifiedMatching -OMIM:604295 VAX2 skos:exactMatch ncbigene:25806 semapv:UnspecifiedMatching -OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:4570 semapv:UnspecifiedMatching -OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:GRHPR semapv:UnspecifiedMatching -OMIM:604296 GRHPR skos:exactMatch ncbigene:9380 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch UMLS:C1420552 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch UMLS:C3809824 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:11503 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:SYNJ1 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch ncbigene:8867 semapv:UnspecifiedMatching -OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:24133 semapv:UnspecifiedMatching -OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:STAP1 semapv:UnspecifiedMatching -OMIM:604298 STAP1 skos:exactMatch ncbigene:26228 semapv:UnspecifiedMatching -OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:24035 semapv:UnspecifiedMatching -OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:APPL1 semapv:UnspecifiedMatching -OMIM:604299 APPL1 skos:exactMatch ncbigene:26060 semapv:UnspecifiedMatching -OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:17856 semapv:UnspecifiedMatching -OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:HACL1 semapv:UnspecifiedMatching -OMIM:604300 HACL1 skos:exactMatch ncbigene:26061 semapv:UnspecifiedMatching -OMIM:604301 oculomedin skos:exactMatch UMLS:C1417927 semapv:UnspecifiedMatching -OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching -OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch UMLS:C1858558 semapv:UnspecifiedMatching -OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:161 semapv:UnspecifiedMatching -OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:ACTL7A semapv:UnspecifiedMatching -OMIM:604303 ACTL7A skos:exactMatch ncbigene:10881 semapv:UnspecifiedMatching -OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:162 semapv:UnspecifiedMatching -OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:ACTL7B semapv:UnspecifiedMatching -OMIM:604304 ACTL7B skos:exactMatch ncbigene:10880 semapv:UnspecifiedMatching -OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:4944 semapv:UnspecifiedMatching -OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:HLA-DQB1 semapv:UnspecifiedMatching -OMIM:604305 HLA-DQB1 skos:exactMatch ncbigene:3119 semapv:UnspecifiedMatching -OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:17067 semapv:UnspecifiedMatching -OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:FAIM2 semapv:UnspecifiedMatching -OMIM:604306 FAIM2 skos:exactMatch ncbigene:23017 semapv:UnspecifiedMatching -OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:15827 semapv:UnspecifiedMatching -OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:SLC13A4 semapv:UnspecifiedMatching -OMIM:604309 SLC13A4 skos:exactMatch ncbigene:26266 semapv:UnspecifiedMatching -OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:8549 semapv:UnspecifiedMatching -OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:BLOC1S6 semapv:UnspecifiedMatching -OMIM:604310 BLOC1S6 skos:exactMatch ncbigene:26258 semapv:UnspecifiedMatching -OMIM:604311 MED1 skos:exactMatch hgnc.symbol:9234 semapv:UnspecifiedMatching -OMIM:604311 MED1 skos:exactMatch hgnc.symbol:MED1 semapv:UnspecifiedMatching -OMIM:604311 MED1 skos:exactMatch ncbigene:5469 semapv:UnspecifiedMatching -OMIM:604312 CST3 skos:exactMatch hgnc.symbol:2475 semapv:UnspecifiedMatching -OMIM:604312 CST3 skos:exactMatch hgnc.symbol:CST3 semapv:UnspecifiedMatching -OMIM:604312 CST3 skos:exactMatch ncbigene:1471 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch UMLS:C1414948 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:4118 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:GALK1 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch ncbigene:2584 semapv:UnspecifiedMatching -OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:4661 semapv:UnspecifiedMatching -OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:GTF2IRD1 semapv:UnspecifiedMatching -OMIM:604318 GTF2IRD1 skos:exactMatch ncbigene:9569 semapv:UnspecifiedMatching -OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:11824 semapv:UnspecifiedMatching -OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:TINF2 semapv:UnspecifiedMatching -OMIM:604319 TINF2 skos:exactMatch ncbigene:26277 semapv:UnspecifiedMatching -OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:10933 semapv:UnspecifiedMatching -OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:SLC17A5 semapv:UnspecifiedMatching -OMIM:604322 SLC17A5 skos:exactMatch ncbigene:26503 semapv:UnspecifiedMatching -OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:54 semapv:UnspecifiedMatching -OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:ABCC3 semapv:UnspecifiedMatching -OMIM:604323 ABCC3 skos:exactMatch ncbigene:8714 semapv:UnspecifiedMatching -OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:9305 semapv:UnspecifiedMatching -OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:PPP2R2B semapv:UnspecifiedMatching -OMIM:604325 PPP2R2B skos:exactMatch ncbigene:5521 semapv:UnspecifiedMatching -OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:930 semapv:UnspecifiedMatching -OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:B4GALT7 semapv:UnspecifiedMatching -OMIM:604327 B4GALT7 skos:exactMatch ncbigene:11285 semapv:UnspecifiedMatching -OMIM:604328 SSRP1 skos:exactMatch UMLS:C1420432 semapv:UnspecifiedMatching -OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:11327 semapv:UnspecifiedMatching -OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:SSRP1 semapv:UnspecifiedMatching -OMIM:604328 SSRP1 skos:exactMatch ncbigene:6749 semapv:UnspecifiedMatching -OMIM:604330 GRAP skos:exactMatch hgnc.symbol:4562 semapv:UnspecifiedMatching -OMIM:604330 GRAP skos:exactMatch hgnc.symbol:GRAP semapv:UnspecifiedMatching -OMIM:604330 GRAP skos:exactMatch ncbigene:10750 semapv:UnspecifiedMatching -OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:14879 semapv:UnspecifiedMatching -OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:INTS6 semapv:UnspecifiedMatching -OMIM:604331 INTS6 skos:exactMatch ncbigene:26512 semapv:UnspecifiedMatching -OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:1935 semapv:UnspecifiedMatching -OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:CHIC2 semapv:UnspecifiedMatching -OMIM:604332 CHIC2 skos:exactMatch ncbigene:26511 semapv:UnspecifiedMatching -OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:14280 semapv:UnspecifiedMatching -OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:CIAO1 semapv:UnspecifiedMatching -OMIM:604333 CIAO1 skos:exactMatch ncbigene:9391 semapv:UnspecifiedMatching -OMIM:604334 USP6 skos:exactMatch hgnc.symbol:12629 semapv:UnspecifiedMatching -OMIM:604334 USP6 skos:exactMatch hgnc.symbol:USP6 semapv:UnspecifiedMatching -OMIM:604334 USP6 skos:exactMatch ncbigene:9098 semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch UMLS:C1420883 semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch hgnc.symbol:12023 semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch hgnc.symbol:TPTE semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch ncbigene:7179 semapv:UnspecifiedMatching -OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:2017 semapv:UnspecifiedMatching -OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:CLCA3P semapv:UnspecifiedMatching -OMIM:604337 CLCA3P skos:exactMatch ncbigene:9629 semapv:UnspecifiedMatching -OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:6821 semapv:UnspecifiedMatching -OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:MAN1A1 semapv:UnspecifiedMatching -OMIM:604344 MAN1A1 skos:exactMatch ncbigene:4121 semapv:UnspecifiedMatching -OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:6822 semapv:UnspecifiedMatching -OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:MAN1A2 semapv:UnspecifiedMatching -OMIM:604345 MAN1A2 skos:exactMatch ncbigene:10905 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch UMLS:C1416994 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:6823 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:MAN1B1 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch ncbigene:11253 semapv:UnspecifiedMatching -OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:13058 semapv:UnspecifiedMatching -OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:ZRANB2 semapv:UnspecifiedMatching -OMIM:604347 ZRANB2 skos:exactMatch ncbigene:9406 semapv:UnspecifiedMatching -OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:6494 semapv:UnspecifiedMatching -OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:LAMC3 semapv:UnspecifiedMatching -OMIM:604349 LAMC3 skos:exactMatch ncbigene:10319 semapv:UnspecifiedMatching -OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:9779 semapv:UnspecifiedMatching -OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:RAB3D semapv:UnspecifiedMatching -OMIM:604350 RAB3D skos:exactMatch ncbigene:9545 semapv:UnspecifiedMatching -OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:8920 semapv:UnspecifiedMatching -OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:PHF2 semapv:UnspecifiedMatching -OMIM:604351 PHF2 skos:exactMatch ncbigene:5253 semapv:UnspecifiedMatching -OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:14525 semapv:UnspecifiedMatching -OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:CHORDC1 semapv:UnspecifiedMatching -OMIM:604353 CHORDC1 skos:exactMatch ncbigene:26973 semapv:UnspecifiedMatching -OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:8057 semapv:UnspecifiedMatching -OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:NUFIP1 semapv:UnspecifiedMatching -OMIM:604354 NUFIP1 skos:exactMatch ncbigene:26747 semapv:UnspecifiedMatching -OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:2237 semapv:UnspecifiedMatching -OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:COPG2 semapv:UnspecifiedMatching -OMIM:604355 COPG2 skos:exactMatch ncbigene:26958 semapv:UnspecifiedMatching -OMIM:604356 duane retraction syndrome 2 skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching -OMIM:604356 duane retraction syndrome 2 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching -OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:6758 semapv:UnspecifiedMatching -OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:MAB21L2 semapv:UnspecifiedMatching -OMIM:604357 MAB21L2 skos:exactMatch ncbigene:10586 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch UMLS:C1420448 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch UMLS:C4539951 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:11354 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:STAG1 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch ncbigene:10274 semapv:UnspecifiedMatching -OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:6646 semapv:UnspecifiedMatching -OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:LMO7 semapv:UnspecifiedMatching -OMIM:604362 LMO7 skos:exactMatch ncbigene:4008 semapv:UnspecifiedMatching -OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching -OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C1858477 semapv:UnspecifiedMatching -OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C4551983 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch UMLS:C0339512 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch UMLS:C1418946 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch UMLS:C2677516 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:9454 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:PROM1 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch ncbigene:8842 semapv:UnspecifiedMatching -OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:2954 semapv:UnspecifiedMatching -OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:DNAI1 semapv:UnspecifiedMatching -OMIM:604366 DNAI1 skos:exactMatch ncbigene:27019 semapv:UnspecifiedMatching -OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:4462 semapv:UnspecifiedMatching -OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:GPNMB semapv:UnspecifiedMatching -OMIM:604368 GPNMB skos:exactMatch ncbigene:10457 semapv:UnspecifiedMatching -OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:4905 semapv:UnspecifiedMatching -OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:HHLA2 semapv:UnspecifiedMatching -OMIM:604371 HHLA2 skos:exactMatch ncbigene:11148 semapv:UnspecifiedMatching -OMIM:604372 HHLA3 skos:exactMatch hgnc.symbol:ANKRD13C-DT semapv:UnspecifiedMatching -OMIM:604372 HHLA3 skos:exactMatch ncbigene:11147 semapv:UnspecifiedMatching -OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:16627 semapv:UnspecifiedMatching -OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:CHEK2 semapv:UnspecifiedMatching -OMIM:604373 CHEK2 skos:exactMatch ncbigene:11200 semapv:UnspecifiedMatching -OMIM:604374 MTL5 skos:exactMatch hgnc.symbol:7446 semapv:UnspecifiedMatching -OMIM:604374 MTL5 skos:exactMatch hgnc.symbol:TESMIN semapv:UnspecifiedMatching -OMIM:604374 MTL5 skos:exactMatch ncbigene:9633 semapv:UnspecifiedMatching -OMIM:604375 HGS skos:exactMatch hgnc.symbol:4897 semapv:UnspecifiedMatching -OMIM:604375 HGS skos:exactMatch hgnc.symbol:HGS semapv:UnspecifiedMatching -OMIM:604375 HGS skos:exactMatch ncbigene:9146 semapv:UnspecifiedMatching -OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:7226 semapv:UnspecifiedMatching -OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:MPZL1 semapv:UnspecifiedMatching -OMIM:604376 MPZL1 skos:exactMatch ncbigene:9019 semapv:UnspecifiedMatching -OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching -OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C1858424 semapv:UnspecifiedMatching -OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching -OMIM:604378 BECN1 skos:exactMatch UMLS:C1412785 semapv:UnspecifiedMatching -OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:1034 semapv:UnspecifiedMatching -OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:BECN1 semapv:UnspecifiedMatching -OMIM:604378 BECN1 skos:exactMatch ncbigene:8678 semapv:UnspecifiedMatching -OMIM:604383 GFI1B skos:exactMatch hgnc.symbol:4238 semapv:UnspecifiedMatching -OMIM:604383 GFI1B skos:exactMatch hgnc.symbol:GFI1B semapv:UnspecifiedMatching -OMIM:604383 GFI1B skos:exactMatch ncbigene:8328 semapv:UnspecifiedMatching -OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:13211 semapv:UnspecifiedMatching -OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:ATP2C1 semapv:UnspecifiedMatching -OMIM:604384 ATP2C1 skos:exactMatch ncbigene:27032 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch UMLS:C1419854 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch UMLS:C3809882 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch UMLS:C3809899 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:10583 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:SCN11A semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch ncbigene:11280 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch UMLS:C1421175 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:12340 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:TRPS1 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch ncbigene:7227 semapv:UnspecifiedMatching -OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:4407 semapv:UnspecifiedMatching -OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:GNG4 semapv:UnspecifiedMatching -OMIM:604388 GNG4 skos:exactMatch ncbigene:2786 semapv:UnspecifiedMatching -OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:4402 semapv:UnspecifiedMatching -OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:GNG10 semapv:UnspecifiedMatching -OMIM:604389 GNG10 skos:exactMatch ncbigene:2790 semapv:UnspecifiedMatching -OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:4403 semapv:UnspecifiedMatching -OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:GNG11 semapv:UnspecifiedMatching -OMIM:604390 GNG11 skos:exactMatch ncbigene:2791 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch UMLS:C1412303 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751763 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751764 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:359 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:AIPL1 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch ncbigene:23746 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching -OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:4380 semapv:UnspecifiedMatching -OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:GNA12 semapv:UnspecifiedMatching -OMIM:604394 GNA12 skos:exactMatch ncbigene:2768 semapv:UnspecifiedMatching -OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:7128 semapv:UnspecifiedMatching -OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:MLH3 semapv:UnspecifiedMatching -OMIM:604395 MLH3 skos:exactMatch ncbigene:27030 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch UMLS:C1335812 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:10761 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:SETDB1 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch ncbigene:9869 semapv:UnspecifiedMatching -OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:4382 semapv:UnspecifiedMatching -OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:GNA14 semapv:UnspecifiedMatching -OMIM:604397 GNA14 skos:exactMatch ncbigene:9630 semapv:UnspecifiedMatching -OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:7051 semapv:UnspecifiedMatching -OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:SCGB2A1 semapv:UnspecifiedMatching -OMIM:604398 SCGB2A1 skos:exactMatch ncbigene:4246 semapv:UnspecifiedMatching -OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:9287 semapv:UnspecifiedMatching -OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:PPP1R1B semapv:UnspecifiedMatching -OMIM:604399 PPP1R1B skos:exactMatch ncbigene:84152 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1539863 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:10872 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:ST3GAL5 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch ncbigene:8869 semapv:UnspecifiedMatching -OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching -OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching -OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching -OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:4454 semapv:UnspecifiedMatching -OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:GPC6 semapv:UnspecifiedMatching -OMIM:604404 GPC6 skos:exactMatch ncbigene:10082 semapv:UnspecifiedMatching -OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:10875 semapv:UnspecifiedMatching -OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:SIGLEC6 semapv:UnspecifiedMatching -OMIM:604405 SIGLEC6 skos:exactMatch ncbigene:946 semapv:UnspecifiedMatching -OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:4381 semapv:UnspecifiedMatching -OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:GNA13 semapv:UnspecifiedMatching -OMIM:604406 GNA13 skos:exactMatch ncbigene:10672 semapv:UnspecifiedMatching -OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:6556 semapv:UnspecifiedMatching -OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:LETM1 semapv:UnspecifiedMatching -OMIM:604407 LETM1 skos:exactMatch ncbigene:3954 semapv:UnspecifiedMatching -OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:4370 semapv:UnspecifiedMatching -OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:GMEB1 semapv:UnspecifiedMatching -OMIM:604409 GMEB1 skos:exactMatch ncbigene:10691 semapv:UnspecifiedMatching -OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:10876 semapv:UnspecifiedMatching -OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:SIGLEC7 semapv:UnspecifiedMatching -OMIM:604410 SIGLEC7 skos:exactMatch ncbigene:27036 semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch UMLS:C1416432 semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch hgnc.symbol:6058 semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch hgnc.symbol:INCENP semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch ncbigene:3619 semapv:UnspecifiedMatching -OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:13463 semapv:UnspecifiedMatching -OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:TCL6 semapv:UnspecifiedMatching -OMIM:604412 TCL6 skos:exactMatch ncbigene:27004 semapv:UnspecifiedMatching -OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:9193 semapv:UnspecifiedMatching -OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:POLR2F semapv:UnspecifiedMatching -OMIM:604414 POLR2F skos:exactMatch ncbigene:5435 semapv:UnspecifiedMatching -OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:11378 semapv:UnspecifiedMatching -OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:STEAP1 semapv:UnspecifiedMatching -OMIM:604415 STEAP1 skos:exactMatch ncbigene:26872 semapv:UnspecifiedMatching -OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:17869 semapv:UnspecifiedMatching -OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:AFF4 semapv:UnspecifiedMatching -OMIM:604417 AFF4 skos:exactMatch ncbigene:27125 semapv:UnspecifiedMatching -OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:4288 semapv:UnspecifiedMatching -OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:GJB6 semapv:UnspecifiedMatching -OMIM:604418 GJB6 skos:exactMatch ncbigene:10804 semapv:UnspecifiedMatching -OMIM:604419 POLQ skos:exactMatch hgnc.symbol:9186 semapv:UnspecifiedMatching -OMIM:604419 POLQ skos:exactMatch hgnc.symbol:POLQ semapv:UnspecifiedMatching -OMIM:604419 POLQ skos:exactMatch ncbigene:10721 semapv:UnspecifiedMatching -OMIM:604420 HHEX skos:exactMatch hgnc.symbol:4901 semapv:UnspecifiedMatching -OMIM:604420 HHEX skos:exactMatch hgnc.symbol:HHEX semapv:UnspecifiedMatching -OMIM:604420 HHEX skos:exactMatch ncbigene:3087 semapv:UnspecifiedMatching -OMIM:604421 PDCL skos:exactMatch hgnc.symbol:8770 semapv:UnspecifiedMatching -OMIM:604421 PDCL skos:exactMatch hgnc.symbol:PDCL semapv:UnspecifiedMatching -OMIM:604421 PDCL skos:exactMatch ncbigene:5082 semapv:UnspecifiedMatching -OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:9156 semapv:UnspecifiedMatching -OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:PNLIPRP1 semapv:UnspecifiedMatching -OMIM:604422 PNLIPRP1 skos:exactMatch ncbigene:5407 semapv:UnspecifiedMatching -OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:9157 semapv:UnspecifiedMatching -OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:PNLIPRP2 semapv:UnspecifiedMatching -OMIM:604423 PNLIPRP2 skos:exactMatch ncbigene:5408 semapv:UnspecifiedMatching -OMIM:604424 HIPK3 skos:exactMatch hgnc.symbol:4915 semapv:UnspecifiedMatching -OMIM:604424 HIPK3 skos:exactMatch hgnc.symbol:HIPK3 semapv:UnspecifiedMatching -OMIM:604424 HIPK3 skos:exactMatch ncbigene:10114 semapv:UnspecifiedMatching -OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:28838 semapv:UnspecifiedMatching -OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:LHX8 semapv:UnspecifiedMatching -OMIM:604425 LHX8 skos:exactMatch ncbigene:431707 semapv:UnspecifiedMatching -OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:2645 semapv:UnspecifiedMatching -OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:CYP4F2 semapv:UnspecifiedMatching -OMIM:604426 CYP4F2 skos:exactMatch ncbigene:8529 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch UMLS:C1419853 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch UMLS:C3809893 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:10582 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:SCN10A semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch ncbigene:6336 semapv:UnspecifiedMatching -OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:9470 semapv:UnspecifiedMatching -OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:PRRG2 semapv:UnspecifiedMatching -OMIM:604429 PRRG2 skos:exactMatch ncbigene:5639 semapv:UnspecifiedMatching -OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:4410 semapv:UnspecifiedMatching -OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:GNG7 semapv:UnspecifiedMatching -OMIM:604430 GNG7 skos:exactMatch ncbigene:2788 semapv:UnspecifiedMatching -OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:6243 semapv:UnspecifiedMatching -OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:KCNE3 semapv:UnspecifiedMatching -OMIM:604433 KCNE3 skos:exactMatch ncbigene:10008 semapv:UnspecifiedMatching -OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:6359 semapv:UnspecifiedMatching -OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:KLK11 semapv:UnspecifiedMatching -OMIM:604434 KLK11 skos:exactMatch ncbigene:11012 semapv:UnspecifiedMatching -OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:9457 semapv:UnspecifiedMatching -OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:PLPBP semapv:UnspecifiedMatching -OMIM:604436 PLPBP skos:exactMatch ncbigene:11212 semapv:UnspecifiedMatching -OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:18044 semapv:UnspecifiedMatching -OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:SLC38A3 semapv:UnspecifiedMatching -OMIM:604437 SLC38A3 skos:exactMatch ncbigene:10991 semapv:UnspecifiedMatching -OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:6368 semapv:UnspecifiedMatching -OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:KLK7 semapv:UnspecifiedMatching -OMIM:604438 KLK7 skos:exactMatch ncbigene:5650 semapv:UnspecifiedMatching -OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:4066 semapv:UnspecifiedMatching -OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:GAB1 semapv:UnspecifiedMatching -OMIM:604439 GAB1 skos:exactMatch ncbigene:2549 semapv:UnspecifiedMatching -OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:1976 semapv:UnspecifiedMatching -OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:CIDEA semapv:UnspecifiedMatching -OMIM:604440 CIDEA skos:exactMatch ncbigene:1149 semapv:UnspecifiedMatching -OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:1977 semapv:UnspecifiedMatching -OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:CIDEB semapv:UnspecifiedMatching -OMIM:604441 CIDEB skos:exactMatch ncbigene:27141 semapv:UnspecifiedMatching -OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:16496 semapv:UnspecifiedMatching -OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:ACSL6 semapv:UnspecifiedMatching -OMIM:604443 ACSL6 skos:exactMatch ncbigene:23305 semapv:UnspecifiedMatching -OMIM:604444 BAMBI skos:exactMatch UMLS:C1428947 semapv:UnspecifiedMatching -OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:30251 semapv:UnspecifiedMatching -OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:BAMBI semapv:UnspecifiedMatching -OMIM:604444 BAMBI skos:exactMatch ncbigene:25805 semapv:UnspecifiedMatching -OMIM:604445 PI13 skos:exactMatch hgnc.symbol:8944 semapv:UnspecifiedMatching -OMIM:604445 PI13 skos:exactMatch hgnc.symbol:SERPINB13 semapv:UnspecifiedMatching -OMIM:604445 PI13 skos:exactMatch ncbigene:5275 semapv:UnspecifiedMatching -OMIM:604446 PTER skos:exactMatch hgnc.symbol:9590 semapv:UnspecifiedMatching -OMIM:604446 PTER skos:exactMatch hgnc.symbol:PTER semapv:UnspecifiedMatching -OMIM:604446 PTER skos:exactMatch ncbigene:9317 semapv:UnspecifiedMatching -OMIM:604447 GNB5 skos:exactMatch hgnc.symbol:4401 semapv:UnspecifiedMatching -OMIM:604447 GNB5 skos:exactMatch hgnc.symbol:GNB5 semapv:UnspecifiedMatching -OMIM:604447 GNB5 skos:exactMatch ncbigene:10681 semapv:UnspecifiedMatching -OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:9506 semapv:UnspecifiedMatching -OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:CYTIP semapv:UnspecifiedMatching -OMIM:604448 CYTIP skos:exactMatch ncbigene:9595 semapv:UnspecifiedMatching -OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:9556 semapv:UnspecifiedMatching -OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:PSMD11 semapv:UnspecifiedMatching -OMIM:604449 PSMD11 skos:exactMatch ncbigene:5717 semapv:UnspecifiedMatching -OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:9557 semapv:UnspecifiedMatching -OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:PSMD12 semapv:UnspecifiedMatching -OMIM:604450 PSMD12 skos:exactMatch ncbigene:5718 semapv:UnspecifiedMatching -OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:9563 semapv:UnspecifiedMatching -OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:PSMD5 semapv:UnspecifiedMatching -OMIM:604452 PSMD5 skos:exactMatch ncbigene:5711 semapv:UnspecifiedMatching -OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:7984 semapv:UnspecifiedMatching -OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:NR5A2 semapv:UnspecifiedMatching -OMIM:604453 NR5A2 skos:exactMatch ncbigene:2494 semapv:UnspecifiedMatching -OMIM:604455 SARDH skos:exactMatch hgnc.symbol:10536 semapv:UnspecifiedMatching -OMIM:604455 SARDH skos:exactMatch hgnc.symbol:SARDH semapv:UnspecifiedMatching -OMIM:604455 SARDH skos:exactMatch ncbigene:1757 semapv:UnspecifiedMatching -OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:5412 semapv:UnspecifiedMatching -OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:IFITM1 semapv:UnspecifiedMatching -OMIM:604456 IFITM1 skos:exactMatch ncbigene:8519 semapv:UnspecifiedMatching -OMIM:604457 SP110 skos:exactMatch hgnc.symbol:5401 semapv:UnspecifiedMatching -OMIM:604457 SP110 skos:exactMatch hgnc.symbol:SP110 semapv:UnspecifiedMatching -OMIM:604457 SP110 skos:exactMatch ncbigene:3431 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch UMLS:C1334136 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch UMLS:C4016888 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:17020 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:IRAK3 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch ncbigene:11213 semapv:UnspecifiedMatching -OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:3578 semapv:UnspecifiedMatching -OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:FAF1 semapv:UnspecifiedMatching -OMIM:604460 FAF1 skos:exactMatch ncbigene:11124 semapv:UnspecifiedMatching -OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:5168 semapv:UnspecifiedMatching -OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:HPV6AI1 semapv:UnspecifiedMatching -OMIM:604461 HPV6AI1 skos:exactMatch ncbigene:3259 semapv:UnspecifiedMatching -OMIM:604462 SEMA4C skos:exactMatch UMLS:C1419949 semapv:UnspecifiedMatching -OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:10731 semapv:UnspecifiedMatching -OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:SEMA4C semapv:UnspecifiedMatching -OMIM:604462 SEMA4C skos:exactMatch ncbigene:54910 semapv:UnspecifiedMatching -OMIM:604463 CD160 skos:exactMatch hgnc.symbol:17013 semapv:UnspecifiedMatching -OMIM:604463 CD160 skos:exactMatch hgnc.symbol:CD160 semapv:UnspecifiedMatching -OMIM:604463 CD160 skos:exactMatch ncbigene:11126 semapv:UnspecifiedMatching -OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:6184 semapv:UnspecifiedMatching -OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:ITSN2 semapv:UnspecifiedMatching -OMIM:604464 ITSN2 skos:exactMatch ncbigene:50618 semapv:UnspecifiedMatching -OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:10831 semapv:UnspecifiedMatching -OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:SH3GL2 semapv:UnspecifiedMatching -OMIM:604465 SH3GL2 skos:exactMatch ncbigene:6456 semapv:UnspecifiedMatching -OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:7030 semapv:UnspecifiedMatching -OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:METTL1 semapv:UnspecifiedMatching -OMIM:604466 METTL1 skos:exactMatch ncbigene:4234 semapv:UnspecifiedMatching -OMIM:604467 MMD skos:exactMatch hgnc.symbol:7153 semapv:UnspecifiedMatching -OMIM:604467 MMD skos:exactMatch hgnc.symbol:MMD semapv:UnspecifiedMatching -OMIM:604467 MMD skos:exactMatch ncbigene:23531 semapv:UnspecifiedMatching -OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:6858 semapv:UnspecifiedMatching -OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:MAP3K6 semapv:UnspecifiedMatching -OMIM:604468 MAP3K6 skos:exactMatch ncbigene:9064 semapv:UnspecifiedMatching -OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:10696 semapv:UnspecifiedMatching -OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:EXOC5 semapv:UnspecifiedMatching -OMIM:604469 EXOC5 skos:exactMatch ncbigene:10640 semapv:UnspecifiedMatching -OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:1656 semapv:UnspecifiedMatching -OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:CD2BP2 semapv:UnspecifiedMatching -OMIM:604470 CD2BP2 skos:exactMatch ncbigene:10421 semapv:UnspecifiedMatching -OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:10945 semapv:UnspecifiedMatching -OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:SLC1A7 semapv:UnspecifiedMatching -OMIM:604471 SLC1A7 skos:exactMatch ncbigene:6512 semapv:UnspecifiedMatching -OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:11928 semapv:UnspecifiedMatching -OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:TNFSF13 semapv:UnspecifiedMatching -OMIM:604472 TNFSF13 skos:exactMatch ncbigene:8741 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch UMLS:C1333711 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch UMLS:C4521563 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:4593 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:GRM1 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch ncbigene:2911 semapv:UnspecifiedMatching -OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:14085 semapv:UnspecifiedMatching -OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:RTN4 semapv:UnspecifiedMatching -OMIM:604475 RTN4 skos:exactMatch ncbigene:57142 semapv:UnspecifiedMatching -OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:1553 semapv:UnspecifiedMatching -OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:CBX3 semapv:UnspecifiedMatching -OMIM:604477 CBX3 skos:exactMatch ncbigene:11335 semapv:UnspecifiedMatching -OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:1555 semapv:UnspecifiedMatching -OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:CBX5 semapv:UnspecifiedMatching -OMIM:604478 CBX5 skos:exactMatch ncbigene:23468 semapv:UnspecifiedMatching -OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:14929 semapv:UnspecifiedMatching -OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:SIRT1 semapv:UnspecifiedMatching -OMIM:604479 SIRT1 skos:exactMatch ncbigene:23411 semapv:UnspecifiedMatching -OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:10886 semapv:UnspecifiedMatching -OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:SIRT2 semapv:UnspecifiedMatching -OMIM:604480 SIRT2 skos:exactMatch ncbigene:22933 semapv:UnspecifiedMatching -OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:14931 semapv:UnspecifiedMatching -OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:SIRT3 semapv:UnspecifiedMatching -OMIM:604481 SIRT3 skos:exactMatch ncbigene:23410 semapv:UnspecifiedMatching -OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:14932 semapv:UnspecifiedMatching -OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:SIRT4 semapv:UnspecifiedMatching -OMIM:604482 SIRT4 skos:exactMatch ncbigene:23409 semapv:UnspecifiedMatching -OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:14933 semapv:UnspecifiedMatching -OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:SIRT5 semapv:UnspecifiedMatching -OMIM:604483 SIRT5 skos:exactMatch ncbigene:23408 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:90117 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch UMLS:C1858338 semapv:UnspecifiedMatching -OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:7974 semapv:UnspecifiedMatching -OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:NR2E3 semapv:UnspecifiedMatching -OMIM:604485 NR2E3 skos:exactMatch ncbigene:10002 semapv:UnspecifiedMatching -OMIM:604486 PPIF skos:exactMatch hgnc.symbol:9259 semapv:UnspecifiedMatching -OMIM:604486 PPIF skos:exactMatch hgnc.symbol:PPIF semapv:UnspecifiedMatching -OMIM:604486 PPIF skos:exactMatch ncbigene:10105 semapv:UnspecifiedMatching -OMIM:604487 OTOG skos:exactMatch hgnc.symbol:8516 semapv:UnspecifiedMatching -OMIM:604487 OTOG skos:exactMatch hgnc.symbol:OTOG semapv:UnspecifiedMatching -OMIM:604487 OTOG skos:exactMatch ncbigene:340990 semapv:UnspecifiedMatching -OMIM:604488 TCAP skos:exactMatch hgnc.symbol:11610 semapv:UnspecifiedMatching -OMIM:604488 TCAP skos:exactMatch hgnc.symbol:TCAP semapv:UnspecifiedMatching -OMIM:604488 TCAP skos:exactMatch ncbigene:8557 semapv:UnspecifiedMatching -OMIM:604489 AMACR skos:exactMatch hgnc.symbol:451 semapv:UnspecifiedMatching -OMIM:604489 AMACR skos:exactMatch hgnc.symbol:AMACR semapv:UnspecifiedMatching -OMIM:604489 AMACR skos:exactMatch ncbigene:23600 semapv:UnspecifiedMatching -OMIM:604490 SACS skos:exactMatch hgnc.symbol:10519 semapv:UnspecifiedMatching -OMIM:604490 SACS skos:exactMatch hgnc.symbol:SACS semapv:UnspecifiedMatching -OMIM:604490 SACS skos:exactMatch ncbigene:26278 semapv:UnspecifiedMatching -OMIM:604491 CBLB skos:exactMatch UMLS:C1332672 semapv:UnspecifiedMatching -OMIM:604491 CBLB skos:exactMatch hgnc.symbol:1542 semapv:UnspecifiedMatching -OMIM:604491 CBLB skos:exactMatch hgnc.symbol:CBLB semapv:UnspecifiedMatching -OMIM:604491 CBLB skos:exactMatch ncbigene:868 semapv:UnspecifiedMatching -OMIM:604492 VDAC1 skos:exactMatch UMLS:C1336930 semapv:UnspecifiedMatching -OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:12669 semapv:UnspecifiedMatching -OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:VDAC1 semapv:UnspecifiedMatching -OMIM:604492 VDAC1 skos:exactMatch ncbigene:7416 semapv:UnspecifiedMatching -OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:4287 semapv:UnspecifiedMatching -OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:GJB5 semapv:UnspecifiedMatching -OMIM:604493 GJB5 skos:exactMatch ncbigene:2709 semapv:UnspecifiedMatching -OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:5988 semapv:UnspecifiedMatching -OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:IL18R1 semapv:UnspecifiedMatching -OMIM:604494 IL18R1 skos:exactMatch ncbigene:8809 semapv:UnspecifiedMatching -OMIM:604495 NFKBIB skos:exactMatch UMLS:C1417709 semapv:UnspecifiedMatching -OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:7798 semapv:UnspecifiedMatching -OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:NFKBIB semapv:UnspecifiedMatching -OMIM:604495 NFKBIB skos:exactMatch ncbigene:4793 semapv:UnspecifiedMatching -OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:17899 semapv:UnspecifiedMatching -OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:NKIRAS1 semapv:UnspecifiedMatching -OMIM:604496 NKIRAS1 skos:exactMatch ncbigene:28512 semapv:UnspecifiedMatching -OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:17898 semapv:UnspecifiedMatching -OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:NKIRAS2 semapv:UnspecifiedMatching -OMIM:604497 NKIRAS2 skos:exactMatch ncbigene:28511 semapv:UnspecifiedMatching -OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:12309 semapv:UnspecifiedMatching -OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:ZNHIT3 semapv:UnspecifiedMatching -OMIM:604500 ZNHIT3 skos:exactMatch ncbigene:9326 semapv:UnspecifiedMatching -OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:12310 semapv:UnspecifiedMatching -OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:TRIP4 semapv:UnspecifiedMatching -OMIM:604501 TRIP4 skos:exactMatch ncbigene:9325 semapv:UnspecifiedMatching -OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:12312 semapv:UnspecifiedMatching -OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:HMGN3 semapv:UnspecifiedMatching -OMIM:604502 HMGN3 skos:exactMatch ncbigene:9324 semapv:UnspecifiedMatching -OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:12313 semapv:UnspecifiedMatching -OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:JMJD1C semapv:UnspecifiedMatching -OMIM:604503 JMJD1C skos:exactMatch ncbigene:221037 semapv:UnspecifiedMatching -OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:12304 semapv:UnspecifiedMatching -OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:TRIP10 semapv:UnspecifiedMatching -OMIM:604504 TRIP10 skos:exactMatch ncbigene:9322 semapv:UnspecifiedMatching -OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:12305 semapv:UnspecifiedMatching -OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:TRIP11 semapv:UnspecifiedMatching -OMIM:604505 TRIP11 skos:exactMatch ncbigene:9321 semapv:UnspecifiedMatching -OMIM:604506 TRIP12 skos:exactMatch UMLS:C1421147 semapv:UnspecifiedMatching -OMIM:604506 TRIP12 skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching -OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:12306 semapv:UnspecifiedMatching -OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:TRIP12 semapv:UnspecifiedMatching -OMIM:604506 TRIP12 skos:exactMatch ncbigene:9320 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch UMLS:C1421148 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch UMLS:C4539839 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:12307 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:TRIP13 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch ncbigene:9319 semapv:UnspecifiedMatching -OMIM:604508 COPS2 skos:exactMatch UMLS:C1539124 semapv:UnspecifiedMatching -OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:30747 semapv:UnspecifiedMatching -OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:COPS2 semapv:UnspecifiedMatching -OMIM:604508 COPS2 skos:exactMatch ncbigene:9318 semapv:UnspecifiedMatching -OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:5989 semapv:UnspecifiedMatching -OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:IL18RAP semapv:UnspecifiedMatching -OMIM:604509 IL18RAP skos:exactMatch ncbigene:8807 semapv:UnspecifiedMatching -OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:5323 semapv:UnspecifiedMatching -OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:HYAL4 semapv:UnspecifiedMatching -OMIM:604510 HYAL4 skos:exactMatch ncbigene:23553 semapv:UnspecifiedMatching -OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:1551 semapv:UnspecifiedMatching -OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:CBX1 semapv:UnspecifiedMatching -OMIM:604511 CBX1 skos:exactMatch ncbigene:10951 semapv:UnspecifiedMatching -OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:5999 semapv:UnspecifiedMatching -OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:IL1RL2 semapv:UnspecifiedMatching -OMIM:604512 IL1RL2 skos:exactMatch ncbigene:8808 semapv:UnspecifiedMatching -OMIM:604513 CD84 skos:exactMatch hgnc.symbol:1704 semapv:UnspecifiedMatching -OMIM:604513 CD84 skos:exactMatch hgnc.symbol:CD84 semapv:UnspecifiedMatching -OMIM:604513 CD84 skos:exactMatch ncbigene:8832 semapv:UnspecifiedMatching -OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:10821 semapv:UnspecifiedMatching -OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:SH2D2A semapv:UnspecifiedMatching -OMIM:604514 SH2D2A skos:exactMatch ncbigene:9047 semapv:UnspecifiedMatching -OMIM:604515 BLNK skos:exactMatch hgnc.symbol:14211 semapv:UnspecifiedMatching -OMIM:604515 BLNK skos:exactMatch hgnc.symbol:BLNK semapv:UnspecifiedMatching -OMIM:604515 BLNK skos:exactMatch ncbigene:29760 semapv:UnspecifiedMatching -OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:5949 semapv:UnspecifiedMatching -OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:CD101 semapv:UnspecifiedMatching -OMIM:604516 IGSF2 skos:exactMatch ncbigene:9398 semapv:UnspecifiedMatching -OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:9237 semapv:UnspecifiedMatching -OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:PPARGC1A semapv:UnspecifiedMatching -OMIM:604517 PPARGC1A skos:exactMatch ncbigene:10891 semapv:UnspecifiedMatching -OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:4563 semapv:UnspecifiedMatching -OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:GRAP2 semapv:UnspecifiedMatching -OMIM:604518 GRAP2 skos:exactMatch ncbigene:9402 semapv:UnspecifiedMatching -OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:11930 semapv:UnspecifiedMatching -OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:TNFSF14 semapv:UnspecifiedMatching -OMIM:604520 TNFSF14 skos:exactMatch ncbigene:8740 semapv:UnspecifiedMatching -OMIM:604521 HAAO skos:exactMatch hgnc.symbol:4796 semapv:UnspecifiedMatching -OMIM:604521 HAAO skos:exactMatch hgnc.symbol:HAAO semapv:UnspecifiedMatching -OMIM:604521 HAAO skos:exactMatch ncbigene:23498 semapv:UnspecifiedMatching -OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:2762 semapv:UnspecifiedMatching -OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:DEFA3 semapv:UnspecifiedMatching -OMIM:604522 DEFA3 skos:exactMatch ncbigene:1668 semapv:UnspecifiedMatching -OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:1850 semapv:UnspecifiedMatching -OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:CELSR1 semapv:UnspecifiedMatching -OMIM:604523 CELSR1 skos:exactMatch ncbigene:9620 semapv:UnspecifiedMatching -OMIM:604524 LY75 skos:exactMatch hgnc.symbol:6729 semapv:UnspecifiedMatching -OMIM:604524 LY75 skos:exactMatch hgnc.symbol:LY75 semapv:UnspecifiedMatching -OMIM:604524 LY75 skos:exactMatch ncbigene:4065 semapv:UnspecifiedMatching -OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:5184 semapv:UnspecifiedMatching -OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:HRH3 semapv:UnspecifiedMatching -OMIM:604525 HRH3 skos:exactMatch ncbigene:11255 semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch UMLS:C1415879 semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:5385 semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:IDH3B semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch ncbigene:3420 semapv:UnspecifiedMatching -OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:6252 semapv:UnspecifiedMatching -OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:KCNH3 semapv:UnspecifiedMatching -OMIM:604527 KCNH3 skos:exactMatch ncbigene:23416 semapv:UnspecifiedMatching -OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:6253 semapv:UnspecifiedMatching -OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:KCNH4 semapv:UnspecifiedMatching -OMIM:604528 KCNH4 skos:exactMatch ncbigene:23415 semapv:UnspecifiedMatching -OMIM:604529 OTP skos:exactMatch UMLS:C1418198 semapv:UnspecifiedMatching -OMIM:604529 OTP skos:exactMatch hgnc.symbol:8518 semapv:UnspecifiedMatching -OMIM:604529 OTP skos:exactMatch hgnc.symbol:OTP semapv:UnspecifiedMatching -OMIM:604529 OTP skos:exactMatch ncbigene:23440 semapv:UnspecifiedMatching -OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:6731 semapv:UnspecifiedMatching -OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:NCR1 semapv:UnspecifiedMatching -OMIM:604530 NCR1 skos:exactMatch ncbigene:9437 semapv:UnspecifiedMatching -OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:6732 semapv:UnspecifiedMatching -OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:NCR2 semapv:UnspecifiedMatching -OMIM:604531 NCR2 skos:exactMatch ncbigene:9436 semapv:UnspecifiedMatching -OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:9011 semapv:UnspecifiedMatching -OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:PKD2L1 semapv:UnspecifiedMatching -OMIM:604532 PKD2L1 skos:exactMatch ncbigene:9033 semapv:UnspecifiedMatching -OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:6130 semapv:UnspecifiedMatching -OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:ISG20 semapv:UnspecifiedMatching -OMIM:604533 ISG20 skos:exactMatch ncbigene:3669 semapv:UnspecifiedMatching -OMIM:604534 CD83 skos:exactMatch hgnc.symbol:1703 semapv:UnspecifiedMatching -OMIM:604534 CD83 skos:exactMatch hgnc.symbol:CD83 semapv:UnspecifiedMatching -OMIM:604534 CD83 skos:exactMatch ncbigene:9308 semapv:UnspecifiedMatching -OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:6326 semapv:UnspecifiedMatching -OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:KIFC3 semapv:UnspecifiedMatching -OMIM:604535 KIFC3 skos:exactMatch ncbigene:3801 semapv:UnspecifiedMatching -OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch Orphanet:158668 semapv:UnspecifiedMatching -OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching -OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:6393 semapv:UnspecifiedMatching -OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:KIF2C semapv:UnspecifiedMatching -OMIM:604538 KIF2C skos:exactMatch ncbigene:11004 semapv:UnspecifiedMatching -OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:218 semapv:UnspecifiedMatching -OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:ADAMTS2 semapv:UnspecifiedMatching -OMIM:604539 ADAMTS2 skos:exactMatch ncbigene:9509 semapv:UnspecifiedMatching -OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:6454 semapv:UnspecifiedMatching -OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:KRT36 semapv:UnspecifiedMatching -OMIM:604540 KRT36 skos:exactMatch ncbigene:8689 semapv:UnspecifiedMatching -OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:6455 semapv:UnspecifiedMatching -OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:KRT37 semapv:UnspecifiedMatching -OMIM:604541 KRT37 skos:exactMatch ncbigene:8688 semapv:UnspecifiedMatching -OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:6456 semapv:UnspecifiedMatching -OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:KRT38 semapv:UnspecifiedMatching -OMIM:604542 KRT38 skos:exactMatch ncbigene:8687 semapv:UnspecifiedMatching -OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:6612 semapv:UnspecifiedMatching -OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:LIMD1 semapv:UnspecifiedMatching -OMIM:604543 LIMD1 skos:exactMatch ncbigene:8994 semapv:UnspecifiedMatching -OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:17095 semapv:UnspecifiedMatching -OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:LARS2 semapv:UnspecifiedMatching -OMIM:604544 LARS2 skos:exactMatch ncbigene:23395 semapv:UnspecifiedMatching -OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:6398 semapv:UnspecifiedMatching -OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:KPNA5 semapv:UnspecifiedMatching -OMIM:604545 KPNA5 skos:exactMatch ncbigene:3841 semapv:UnspecifiedMatching -OMIM:604546 TONSL skos:exactMatch hgnc.symbol:7801 semapv:UnspecifiedMatching -OMIM:604546 TONSL skos:exactMatch hgnc.symbol:TONSL semapv:UnspecifiedMatching -OMIM:604546 TONSL skos:exactMatch ncbigene:4796 semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch UMLS:C1417710 semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:7799 semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:NFKBIE semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch ncbigene:4794 semapv:UnspecifiedMatching -OMIM:604550 DENR skos:exactMatch hgnc.symbol:2769 semapv:UnspecifiedMatching -OMIM:604550 DENR skos:exactMatch hgnc.symbol:DENR semapv:UnspecifiedMatching -OMIM:604550 DENR skos:exactMatch ncbigene:8562 semapv:UnspecifiedMatching -OMIM:604551 CH25H skos:exactMatch hgnc.symbol:1907 semapv:UnspecifiedMatching -OMIM:604551 CH25H skos:exactMatch hgnc.symbol:CH25H semapv:UnspecifiedMatching -OMIM:604551 CH25H skos:exactMatch ncbigene:9023 semapv:UnspecifiedMatching -OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:4894 semapv:UnspecifiedMatching -OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:HGFAC semapv:UnspecifiedMatching -OMIM:604552 HGFAC skos:exactMatch ncbigene:3083 semapv:UnspecifiedMatching -OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:5203 semapv:UnspecifiedMatching -OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:HSBP1 semapv:UnspecifiedMatching -OMIM:604553 HSBP1 skos:exactMatch ncbigene:3281 semapv:UnspecifiedMatching -OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:5226 semapv:UnspecifiedMatching -OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:HSF2BP semapv:UnspecifiedMatching -OMIM:604554 HSF2BP skos:exactMatch ncbigene:11077 semapv:UnspecifiedMatching -OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:1749 semapv:UnspecifiedMatching -OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:CDH10 semapv:UnspecifiedMatching -OMIM:604555 CDH10 skos:exactMatch ncbigene:1008 semapv:UnspecifiedMatching -OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:3092 semapv:UnspecifiedMatching -OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:DYRK1B semapv:UnspecifiedMatching -OMIM:604556 DYRK1B skos:exactMatch ncbigene:9149 semapv:UnspecifiedMatching -OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:16762 semapv:UnspecifiedMatching -OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:ZNF423 semapv:UnspecifiedMatching -OMIM:604557 ZNF423 skos:exactMatch ncbigene:23090 semapv:UnspecifiedMatching -OMIM:604558 ICOS skos:exactMatch hgnc.symbol:5351 semapv:UnspecifiedMatching -OMIM:604558 ICOS skos:exactMatch hgnc.symbol:ICOS semapv:UnspecifiedMatching -OMIM:604558 ICOS skos:exactMatch ncbigene:29851 semapv:UnspecifiedMatching -OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:7048 semapv:UnspecifiedMatching -OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:MGAT4B semapv:UnspecifiedMatching -OMIM:604561 MGAT4B skos:exactMatch ncbigene:11282 semapv:UnspecifiedMatching -OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:17066 semapv:UnspecifiedMatching -OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:ACIN1 semapv:UnspecifiedMatching -OMIM:604562 ACIN1 skos:exactMatch ncbigene:22985 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching -OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:7064 semapv:UnspecifiedMatching -OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:MGST3 semapv:UnspecifiedMatching -OMIM:604564 MGST3 skos:exactMatch ncbigene:4259 semapv:UnspecifiedMatching -OMIM:604565 ALG5 skos:exactMatch UMLS:C1426822 semapv:UnspecifiedMatching -OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:20266 semapv:UnspecifiedMatching -OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:ALG5 semapv:UnspecifiedMatching -OMIM:604565 ALG5 skos:exactMatch ncbigene:29880 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch UMLS:C1427953 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:23157 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:ALG6 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch ncbigene:29929 semapv:UnspecifiedMatching -OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:2985 semapv:UnspecifiedMatching -OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:DOC2A semapv:UnspecifiedMatching -OMIM:604567 DOC2A skos:exactMatch ncbigene:8448 semapv:UnspecifiedMatching -OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:2986 semapv:UnspecifiedMatching -OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:DOC2B semapv:UnspecifiedMatching -OMIM:604568 DOC2B skos:exactMatch ncbigene:8447 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C1422223 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2677504 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2750246 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C4552043 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:13830 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:CNTNAP2 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch ncbigene:26047 semapv:UnspecifiedMatching -OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:30422 semapv:UnspecifiedMatching -OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:SHROOM3 semapv:UnspecifiedMatching -OMIM:604570 SHROOM3 skos:exactMatch ncbigene:57619 semapv:UnspecifiedMatching -OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:5270 semapv:UnspecifiedMatching -OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:DNAJB1 semapv:UnspecifiedMatching -OMIM:604572 DNAJB1 skos:exactMatch ncbigene:3337 semapv:UnspecifiedMatching -OMIM:604573 ATP5MPL skos:exactMatch UMLS:C1412885 semapv:UnspecifiedMatching -OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:1188 semapv:UnspecifiedMatching -OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:ATP5MJ semapv:UnspecifiedMatching -OMIM:604573 ATP5MPL skos:exactMatch ncbigene:9556 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch UMLS:C1413032 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:1362 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:FRRS1L semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch ncbigene:23732 semapv:UnspecifiedMatching -OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:1177 semapv:UnspecifiedMatching -OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:ZNHIT2 semapv:UnspecifiedMatching -OMIM:604575 ZNHIT2 skos:exactMatch ncbigene:741 semapv:UnspecifiedMatching -OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:1187 semapv:UnspecifiedMatching -OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:ERG28 semapv:UnspecifiedMatching -OMIM:604576 ERG28 skos:exactMatch ncbigene:11161 semapv:UnspecifiedMatching -OMIM:604577 BVES skos:exactMatch hgnc.symbol:1152 semapv:UnspecifiedMatching -OMIM:604577 BVES skos:exactMatch hgnc.symbol:BVES semapv:UnspecifiedMatching -OMIM:604577 BVES skos:exactMatch ncbigene:11149 semapv:UnspecifiedMatching -OMIM:604578 AIM2 skos:exactMatch UMLS:C1332065 semapv:UnspecifiedMatching -OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:357 semapv:UnspecifiedMatching -OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:AIM2 semapv:UnspecifiedMatching -OMIM:604578 AIM2 skos:exactMatch ncbigene:9447 semapv:UnspecifiedMatching -OMIM:604579 FZD4 skos:exactMatch hgnc.symbol:4042 semapv:UnspecifiedMatching -OMIM:604579 FZD4 skos:exactMatch hgnc.symbol:FZD4 semapv:UnspecifiedMatching -OMIM:604579 FZD4 skos:exactMatch ncbigene:8322 semapv:UnspecifiedMatching -OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:3602 semapv:UnspecifiedMatching -OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:FBLN5 semapv:UnspecifiedMatching -OMIM:604580 FBLN5 skos:exactMatch ncbigene:10516 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1412274 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:315 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:AFG3L2 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch ncbigene:10939 semapv:UnspecifiedMatching -OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc.symbol:33529 semapv:UnspecifiedMatching -OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc.symbol:PALM2AKAP2 semapv:UnspecifiedMatching -OMIM:604582 PALM2AKAP2 skos:exactMatch ncbigene:445815 semapv:UnspecifiedMatching -OMIM:604583 PDCD5 skos:exactMatch hgnc.symbol:8764 semapv:UnspecifiedMatching -OMIM:604583 PDCD5 skos:exactMatch hgnc.symbol:PDCD5 semapv:UnspecifiedMatching -OMIM:604583 PDCD5 skos:exactMatch ncbigene:9141 semapv:UnspecifiedMatching -OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:8805 semapv:UnspecifiedMatching -OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:PDGFRL semapv:UnspecifiedMatching -OMIM:604584 PDGFRL skos:exactMatch ncbigene:5157 semapv:UnspecifiedMatching -OMIM:604585 SP100 skos:exactMatch hgnc.symbol:11206 semapv:UnspecifiedMatching -OMIM:604585 SP100 skos:exactMatch hgnc.symbol:SP100 semapv:UnspecifiedMatching -OMIM:604585 SP100 skos:exactMatch ncbigene:6672 semapv:UnspecifiedMatching -OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:19665 semapv:UnspecifiedMatching -OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:STXBP5 semapv:UnspecifiedMatching -OMIM:604586 STXBP5 skos:exactMatch ncbigene:134957 semapv:UnspecifiedMatching -OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:29912 semapv:UnspecifiedMatching -OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:CALCOCO2 semapv:UnspecifiedMatching -OMIM:604587 CALCOCO2 skos:exactMatch ncbigene:10241 semapv:UnspecifiedMatching -OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:7744 semapv:UnspecifiedMatching -OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:NEK1 semapv:UnspecifiedMatching -OMIM:604588 NEK1 skos:exactMatch ncbigene:4750 semapv:UnspecifiedMatching -OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:1102 semapv:UnspecifiedMatching -OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:BRD1 semapv:UnspecifiedMatching -OMIM:604589 BRD1 skos:exactMatch ncbigene:23774 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch UMLS:C1414554 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:3618 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:FCGR2B semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch ncbigene:2213 semapv:UnspecifiedMatching -OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:8630 semapv:UnspecifiedMatching -OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:PEBP1 semapv:UnspecifiedMatching -OMIM:604591 PEBP1 skos:exactMatch ncbigene:5037 semapv:UnspecifiedMatching -OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:11647 semapv:UnspecifiedMatching -OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:TCIRG1 semapv:UnspecifiedMatching -OMIM:604592 TCIRG1 skos:exactMatch ncbigene:10312 semapv:UnspecifiedMatching -OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:6325 semapv:UnspecifiedMatching -OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:KIF5C semapv:UnspecifiedMatching -OMIM:604593 KIF5C skos:exactMatch ncbigene:3800 semapv:UnspecifiedMatching -OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:14312 semapv:UnspecifiedMatching -OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:CRIPT semapv:UnspecifiedMatching -OMIM:604594 CRIPT skos:exactMatch ncbigene:9419 semapv:UnspecifiedMatching -OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:14379 semapv:UnspecifiedMatching -OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:FBXW10B semapv:UnspecifiedMatching -OMIM:604596 FBXW10B skos:exactMatch ncbigene:374286 semapv:UnspecifiedMatching -OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:18708 semapv:UnspecifiedMatching -OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:GRIP1 semapv:UnspecifiedMatching -OMIM:604597 GRIP1 skos:exactMatch ncbigene:23426 semapv:UnspecifiedMatching -OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:1355 semapv:UnspecifiedMatching -OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:OSGIN2 semapv:UnspecifiedMatching -OMIM:604598 OSGIN2 skos:exactMatch ncbigene:734 semapv:UnspecifiedMatching -OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:14129 semapv:UnspecifiedMatching -OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:EHMT2 semapv:UnspecifiedMatching -OMIM:604599 EHMT2 skos:exactMatch ncbigene:10919 semapv:UnspecifiedMatching -OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:14323 semapv:UnspecifiedMatching -OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:TRPM5 semapv:UnspecifiedMatching -OMIM:604600 TRPM5 skos:exactMatch ncbigene:29850 semapv:UnspecifiedMatching -OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:7469 semapv:UnspecifiedMatching -OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:MTRF1 semapv:UnspecifiedMatching -OMIM:604601 MTRF1 skos:exactMatch ncbigene:9617 semapv:UnspecifiedMatching -OMIM:604602 MRRF skos:exactMatch hgnc.symbol:7234 semapv:UnspecifiedMatching -OMIM:604602 MRRF skos:exactMatch hgnc.symbol:MRRF semapv:UnspecifiedMatching -OMIM:604602 MRRF skos:exactMatch ncbigene:92399 semapv:UnspecifiedMatching -OMIM:604603 MYOF skos:exactMatch UMLS:C1414587 semapv:UnspecifiedMatching -OMIM:604603 MYOF skos:exactMatch hgnc.symbol:3656 semapv:UnspecifiedMatching -OMIM:604603 MYOF skos:exactMatch hgnc.symbol:MYOF semapv:UnspecifiedMatching -OMIM:604603 MYOF skos:exactMatch ncbigene:26509 semapv:UnspecifiedMatching -OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:1329 semapv:UnspecifiedMatching -OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:SLC30A9 semapv:UnspecifiedMatching -OMIM:604604 SLC30A9 skos:exactMatch ncbigene:10463 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch UMLS:C1537432 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch hgnc.symbol:4814 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch hgnc.symbol:KALRN semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch ncbigene:8997 semapv:UnspecifiedMatching -OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:23381 semapv:UnspecifiedMatching -OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:OBP2B semapv:UnspecifiedMatching -OMIM:604606 OBP2B skos:exactMatch ncbigene:29989 semapv:UnspecifiedMatching -OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:5112 semapv:UnspecifiedMatching -OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:HOXB13 semapv:UnspecifiedMatching -OMIM:604607 HOXB13 skos:exactMatch ncbigene:10481 semapv:UnspecifiedMatching -OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:7510 semapv:UnspecifiedMatching -OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:MUC12 semapv:UnspecifiedMatching -OMIM:604609 MUC12 skos:exactMatch ncbigene:10071 semapv:UnspecifiedMatching -OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:1058 semapv:UnspecifiedMatching -OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:BLM semapv:UnspecifiedMatching -OMIM:604610 RECQL3 skos:exactMatch ncbigene:641 semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch UMLS:C1337007 semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:12791 semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:WRN semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch ncbigene:7486 semapv:UnspecifiedMatching -OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:7835 semapv:UnspecifiedMatching -OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:NKX2-2 semapv:UnspecifiedMatching -OMIM:604612 NKX2-2 skos:exactMatch ncbigene:4821 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch UMLS:C0521619 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch UMLS:C1420606 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:11595 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:TBX18 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch ncbigene:9096 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch UMLS:C0271583 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch UMLS:C1420607 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:11596 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:TBX19 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch ncbigene:9095 semapv:UnspecifiedMatching -OMIM:604615 EOMES skos:exactMatch UMLS:C1414420 semapv:UnspecifiedMatching -OMIM:604615 EOMES skos:exactMatch hgnc.symbol:3372 semapv:UnspecifiedMatching -OMIM:604615 EOMES skos:exactMatch hgnc.symbol:EOMES semapv:UnspecifiedMatching -OMIM:604615 EOMES skos:exactMatch ncbigene:8320 semapv:UnspecifiedMatching -OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:11590 semapv:UnspecifiedMatching -OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:TBR1 semapv:UnspecifiedMatching -OMIM:604616 TBR1 skos:exactMatch ncbigene:10716 semapv:UnspecifiedMatching -OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:7760 semapv:UnspecifiedMatching -OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:NEU3 semapv:UnspecifiedMatching -OMIM:604617 NEU3 skos:exactMatch ncbigene:10825 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch UMLS:C1417732 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:7828 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:NIT1 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch ncbigene:4817 semapv:UnspecifiedMatching -OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:6572 semapv:UnspecifiedMatching -OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:LGI1 semapv:UnspecifiedMatching -OMIM:604619 LGI1 skos:exactMatch ncbigene:9211 semapv:UnspecifiedMatching -OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:4517 semapv:UnspecifiedMatching -OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:GPR65 semapv:UnspecifiedMatching -OMIM:604620 GPR65 skos:exactMatch ncbigene:8477 semapv:UnspecifiedMatching -OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:7046 semapv:UnspecifiedMatching -OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:MGAT3 semapv:UnspecifiedMatching -OMIM:604621 MGAT3 skos:exactMatch ncbigene:4248 semapv:UnspecifiedMatching -OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:7047 semapv:UnspecifiedMatching -OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:MGAT4A semapv:UnspecifiedMatching -OMIM:604623 MGAT4A skos:exactMatch ncbigene:11320 semapv:UnspecifiedMatching -OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:5248 semapv:UnspecifiedMatching -OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:HSPB3 semapv:UnspecifiedMatching -OMIM:604624 HSPB3 skos:exactMatch ncbigene:8988 semapv:UnspecifiedMatching -OMIM:604626 ME3 skos:exactMatch hgnc.symbol:6985 semapv:UnspecifiedMatching -OMIM:604626 ME3 skos:exactMatch hgnc.symbol:ME3 semapv:UnspecifiedMatching -OMIM:604626 ME3 skos:exactMatch ncbigene:10873 semapv:UnspecifiedMatching -OMIM:604627 IL17B skos:exactMatch hgnc.symbol:5982 semapv:UnspecifiedMatching -OMIM:604627 IL17B skos:exactMatch hgnc.symbol:IL17B semapv:UnspecifiedMatching -OMIM:604627 IL17B skos:exactMatch ncbigene:27190 semapv:UnspecifiedMatching -OMIM:604628 IL17C skos:exactMatch hgnc.symbol:5983 semapv:UnspecifiedMatching -OMIM:604628 IL17C skos:exactMatch hgnc.symbol:IL17C semapv:UnspecifiedMatching -OMIM:604628 IL17C skos:exactMatch ncbigene:27189 semapv:UnspecifiedMatching -OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:7167 semapv:UnspecifiedMatching -OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:MMP20 semapv:UnspecifiedMatching -OMIM:604629 MMP20 skos:exactMatch ncbigene:9313 semapv:UnspecifiedMatching -OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:7961 semapv:UnspecifiedMatching -OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:NR0B2 semapv:UnspecifiedMatching -OMIM:604630 NR0B2 skos:exactMatch ncbigene:8431 semapv:UnspecifiedMatching -OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:16919 semapv:UnspecifiedMatching -OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:VAT1 semapv:UnspecifiedMatching -OMIM:604631 VAT1 skos:exactMatch ncbigene:10493 semapv:UnspecifiedMatching -OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:25507 semapv:UnspecifiedMatching -OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:VAC14 semapv:UnspecifiedMatching -OMIM:604632 VAC14 skos:exactMatch ncbigene:55697 semapv:UnspecifiedMatching -OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:3219 semapv:UnspecifiedMatching -OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:EFEMP2 semapv:UnspecifiedMatching -OMIM:604633 EFEMP2 skos:exactMatch ncbigene:30008 semapv:UnspecifiedMatching -OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:11554 semapv:UnspecifiedMatching -OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:TAGLN2 semapv:UnspecifiedMatching -OMIM:604634 TAGLN2 skos:exactMatch ncbigene:8407 semapv:UnspecifiedMatching -OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:8076 semapv:UnspecifiedMatching -OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:NXPH2 semapv:UnspecifiedMatching -OMIM:604635 NXPH2 skos:exactMatch ncbigene:11249 semapv:UnspecifiedMatching -OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:8077 semapv:UnspecifiedMatching -OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:NXPH3 semapv:UnspecifiedMatching -OMIM:604636 NXPH3 skos:exactMatch ncbigene:11248 semapv:UnspecifiedMatching -OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:8078 semapv:UnspecifiedMatching -OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:NXPH4 semapv:UnspecifiedMatching -OMIM:604637 NXPH4 skos:exactMatch ncbigene:11247 semapv:UnspecifiedMatching -OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:166 semapv:UnspecifiedMatching -OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:ACTN4 semapv:UnspecifiedMatching -OMIM:604638 ACTN4 skos:exactMatch ncbigene:81 semapv:UnspecifiedMatching -OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:20693 semapv:UnspecifiedMatching -OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:NXPH1 semapv:UnspecifiedMatching -OMIM:604639 NXPH1 skos:exactMatch ncbigene:30010 semapv:UnspecifiedMatching -OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:13532 semapv:UnspecifiedMatching -OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:TLX3 semapv:UnspecifiedMatching -OMIM:604640 TLX3 skos:exactMatch ncbigene:30012 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C1417024 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:6882 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:MAPK8IP1 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch ncbigene:9479 semapv:UnspecifiedMatching -OMIM:604642 CA10 skos:exactMatch hgnc.symbol:1369 semapv:UnspecifiedMatching -OMIM:604642 CA10 skos:exactMatch hgnc.symbol:CA10 semapv:UnspecifiedMatching -OMIM:604642 CA10 skos:exactMatch ncbigene:56934 semapv:UnspecifiedMatching -OMIM:604643 NPFF skos:exactMatch hgnc.symbol:7901 semapv:UnspecifiedMatching -OMIM:604643 NPFF skos:exactMatch hgnc.symbol:NPFF semapv:UnspecifiedMatching -OMIM:604643 NPFF skos:exactMatch ncbigene:8620 semapv:UnspecifiedMatching -OMIM:604644 CA11 skos:exactMatch hgnc.symbol:1370 semapv:UnspecifiedMatching -OMIM:604644 CA11 skos:exactMatch hgnc.symbol:CA11 semapv:UnspecifiedMatching -OMIM:604644 CA11 skos:exactMatch ncbigene:770 semapv:UnspecifiedMatching -OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:8792 semapv:UnspecifiedMatching -OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:PDE7B semapv:UnspecifiedMatching -OMIM:604645 PDE7B skos:exactMatch ncbigene:27115 semapv:UnspecifiedMatching -OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:8065 semapv:UnspecifiedMatching -OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:NUP50 semapv:UnspecifiedMatching -OMIM:604646 NUP50 skos:exactMatch ncbigene:10762 semapv:UnspecifiedMatching -OMIM:604647 CALY skos:exactMatch hgnc.symbol:17938 semapv:UnspecifiedMatching -OMIM:604647 CALY skos:exactMatch hgnc.symbol:CALY semapv:UnspecifiedMatching -OMIM:604647 CALY skos:exactMatch ncbigene:50632 semapv:UnspecifiedMatching -OMIM:604648 TBX10 skos:exactMatch UMLS:C1420604 semapv:UnspecifiedMatching -OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:11593 semapv:UnspecifiedMatching -OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:TBX10 semapv:UnspecifiedMatching -OMIM:604648 TBX10 skos:exactMatch ncbigene:347853 semapv:UnspecifiedMatching -OMIM:604649 TBCD skos:exactMatch hgnc.symbol:11581 semapv:UnspecifiedMatching -OMIM:604649 TBCD skos:exactMatch hgnc.symbol:TBCD semapv:UnspecifiedMatching -OMIM:604649 TBCD skos:exactMatch ncbigene:6904 semapv:UnspecifiedMatching -OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:5411 semapv:UnspecifiedMatching -OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:IFIT3 semapv:UnspecifiedMatching -OMIM:604650 IFIT3 skos:exactMatch ncbigene:3437 semapv:UnspecifiedMatching -OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:4222 semapv:UnspecifiedMatching -OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:GDF7 semapv:UnspecifiedMatching -OMIM:604651 GDF7 skos:exactMatch ncbigene:151449 semapv:UnspecifiedMatching -OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:11640 semapv:UnspecifiedMatching -OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:TCF7L1 semapv:UnspecifiedMatching -OMIM:604652 TCF7L1 skos:exactMatch ncbigene:83439 semapv:UnspecifiedMatching -OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:10909 semapv:UnspecifiedMatching -OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:SLC40A1 semapv:UnspecifiedMatching -OMIM:604653 SLC40A1 skos:exactMatch ncbigene:30061 semapv:UnspecifiedMatching -OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:5298 semapv:UnspecifiedMatching -OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:HTR3B semapv:UnspecifiedMatching -OMIM:604654 HTR3B skos:exactMatch ncbigene:9177 semapv:UnspecifiedMatching -OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:6853 semapv:UnspecifiedMatching -OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:MAP3K14 semapv:UnspecifiedMatching -OMIM:604655 MAP3K14 skos:exactMatch ncbigene:9020 semapv:UnspecifiedMatching -OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:1212 semapv:UnspecifiedMatching -OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:FMNL1 semapv:UnspecifiedMatching -OMIM:604656 FMNL1 skos:exactMatch ncbigene:752 semapv:UnspecifiedMatching -OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:11857 semapv:UnspecifiedMatching -OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:TM4SF5 semapv:UnspecifiedMatching -OMIM:604657 TM4SF5 skos:exactMatch ncbigene:9032 semapv:UnspecifiedMatching -OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:11862 semapv:UnspecifiedMatching -OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:GPR137B semapv:UnspecifiedMatching -OMIM:604658 TM7SF1 skos:exactMatch ncbigene:7107 semapv:UnspecifiedMatching -OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:13525 semapv:UnspecifiedMatching -OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:ERVW-1 semapv:UnspecifiedMatching -OMIM:604659 ERVW1 skos:exactMatch ncbigene:30816 semapv:UnspecifiedMatching -OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:15521 semapv:UnspecifiedMatching -OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:KCNIP1 semapv:UnspecifiedMatching -OMIM:604660 KCNIP1 skos:exactMatch ncbigene:30820 semapv:UnspecifiedMatching -OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:15522 semapv:UnspecifiedMatching -OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:KCNIP2 semapv:UnspecifiedMatching -OMIM:604661 KCNIP2 skos:exactMatch ncbigene:30819 semapv:UnspecifiedMatching -OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:15523 semapv:UnspecifiedMatching -OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:KCNIP3 semapv:UnspecifiedMatching -OMIM:604662 KCNIP3 skos:exactMatch ncbigene:30818 semapv:UnspecifiedMatching -OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:12785 semapv:UnspecifiedMatching -OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:WNT6 semapv:UnspecifiedMatching -OMIM:604663 WNT6 skos:exactMatch ncbigene:7475 semapv:UnspecifiedMatching -OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:5398 semapv:UnspecifiedMatching -OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:IFI30 semapv:UnspecifiedMatching -OMIM:604664 IFI30 skos:exactMatch ncbigene:10437 semapv:UnspecifiedMatching -OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:2239 semapv:UnspecifiedMatching -OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:COPS3 semapv:UnspecifiedMatching -OMIM:604665 COPS3 skos:exactMatch ncbigene:8533 semapv:UnspecifiedMatching -OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:6866 semapv:UnspecifiedMatching -OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:MAP4K4 semapv:UnspecifiedMatching -OMIM:604666 MAP4K4 skos:exactMatch ncbigene:9448 semapv:UnspecifiedMatching -OMIM:604667 CADPS skos:exactMatch hgnc.symbol:1426 semapv:UnspecifiedMatching -OMIM:604667 CADPS skos:exactMatch hgnc.symbol:CADPS semapv:UnspecifiedMatching -OMIM:604667 CADPS skos:exactMatch ncbigene:8618 semapv:UnspecifiedMatching -OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:13057 semapv:UnspecifiedMatching -OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:ZNF264 semapv:UnspecifiedMatching -OMIM:604668 ZNF264 skos:exactMatch ncbigene:9422 semapv:UnspecifiedMatching -OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:9012 semapv:UnspecifiedMatching -OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:PKD2L2 semapv:UnspecifiedMatching -OMIM:604669 PKD2L2 skos:exactMatch ncbigene:27039 semapv:UnspecifiedMatching -OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:9015 semapv:UnspecifiedMatching -OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:PKDREJ semapv:UnspecifiedMatching -OMIM:604670 PKDREJ skos:exactMatch ncbigene:10343 semapv:UnspecifiedMatching -OMIM:604671 JTB skos:exactMatch hgnc.symbol:6201 semapv:UnspecifiedMatching -OMIM:604671 JTB skos:exactMatch hgnc.symbol:JTB semapv:UnspecifiedMatching -OMIM:604671 JTB skos:exactMatch ncbigene:10899 semapv:UnspecifiedMatching -OMIM:604672 CD209 skos:exactMatch hgnc.symbol:1641 semapv:UnspecifiedMatching -OMIM:604672 CD209 skos:exactMatch hgnc.symbol:CD209 semapv:UnspecifiedMatching -OMIM:604672 CD209 skos:exactMatch ncbigene:30835 semapv:UnspecifiedMatching -OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:7237 semapv:UnspecifiedMatching -OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:IRAG1 semapv:UnspecifiedMatching -OMIM:604673 IRAG1 skos:exactMatch ncbigene:10335 semapv:UnspecifiedMatching -OMIM:604674 HEY2 skos:exactMatch UMLS:C1415525 semapv:UnspecifiedMatching -OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:4881 semapv:UnspecifiedMatching -OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:HEY2 semapv:UnspecifiedMatching -OMIM:604674 HEY2 skos:exactMatch ncbigene:23493 semapv:UnspecifiedMatching -OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:21338 semapv:UnspecifiedMatching -OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:PRRX2 semapv:UnspecifiedMatching -OMIM:604675 PRRX2 skos:exactMatch ncbigene:51450 semapv:UnspecifiedMatching -OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:21659 semapv:UnspecifiedMatching -OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:HCP5 semapv:UnspecifiedMatching -OMIM:604676 HCP5 skos:exactMatch ncbigene:10866 semapv:UnspecifiedMatching -OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:2205 semapv:UnspecifiedMatching -OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:CERT1 semapv:UnspecifiedMatching -OMIM:604677 CERT1 skos:exactMatch ncbigene:10087 semapv:UnspecifiedMatching -OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:11865 semapv:UnspecifiedMatching -OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:TM9SF2 semapv:UnspecifiedMatching -OMIM:604678 TM9SF2 skos:exactMatch ncbigene:9375 semapv:UnspecifiedMatching -OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:8554 semapv:UnspecifiedMatching -OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:PABPC1 semapv:UnspecifiedMatching -OMIM:604679 PABPC1 skos:exactMatch ncbigene:26986 semapv:UnspecifiedMatching -OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:8556 semapv:UnspecifiedMatching -OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:PABPC3 semapv:UnspecifiedMatching -OMIM:604680 PABPC3 skos:exactMatch ncbigene:5042 semapv:UnspecifiedMatching -OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:6147 semapv:UnspecifiedMatching -OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:ITGAE semapv:UnspecifiedMatching -OMIM:604682 ITGAE skos:exactMatch ncbigene:3682 semapv:UnspecifiedMatching -OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:6319 semapv:UnspecifiedMatching -OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:KIF3A semapv:UnspecifiedMatching -OMIM:604683 KIF3A skos:exactMatch ncbigene:11127 semapv:UnspecifiedMatching -OMIM:604684 MLLT11 skos:exactMatch UMLS:C1826257 semapv:UnspecifiedMatching -OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:16997 semapv:UnspecifiedMatching -OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:MLLT11 semapv:UnspecifiedMatching -OMIM:604684 MLLT11 skos:exactMatch ncbigene:10962 semapv:UnspecifiedMatching -OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:5103 semapv:UnspecifiedMatching -OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:HOXA2 semapv:UnspecifiedMatching -OMIM:604685 HOXA2 skos:exactMatch ncbigene:3199 semapv:UnspecifiedMatching -OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:371 semapv:UnspecifiedMatching -OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:AKAP13 semapv:UnspecifiedMatching -OMIM:604686 AKAP13 skos:exactMatch ncbigene:11214 semapv:UnspecifiedMatching -OMIM:604687 PTGDR skos:exactMatch hgnc.symbol:9591 semapv:UnspecifiedMatching -OMIM:604687 PTGDR skos:exactMatch hgnc.symbol:PTGDR semapv:UnspecifiedMatching -OMIM:604687 PTGDR skos:exactMatch ncbigene:5729 semapv:UnspecifiedMatching -OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:375 semapv:UnspecifiedMatching -OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:AKAP5 semapv:UnspecifiedMatching -OMIM:604688 AKAP5 skos:exactMatch ncbigene:9495 semapv:UnspecifiedMatching -OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:373 semapv:UnspecifiedMatching -OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:AKAP3 semapv:UnspecifiedMatching -OMIM:604689 AKAP3 skos:exactMatch ncbigene:10566 semapv:UnspecifiedMatching -OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:376 semapv:UnspecifiedMatching -OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:AKAP6 semapv:UnspecifiedMatching -OMIM:604691 AKAP6 skos:exactMatch ncbigene:9472 semapv:UnspecifiedMatching -OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:378 semapv:UnspecifiedMatching -OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:AKAP8 semapv:UnspecifiedMatching -OMIM:604692 AKAP8 skos:exactMatch ncbigene:10270 semapv:UnspecifiedMatching -OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:377 semapv:UnspecifiedMatching -OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:AKAP7 semapv:UnspecifiedMatching -OMIM:604693 AKAP7 skos:exactMatch ncbigene:9465 semapv:UnspecifiedMatching -OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:368 semapv:UnspecifiedMatching -OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:AKAP10 semapv:UnspecifiedMatching -OMIM:604694 AKAP10 skos:exactMatch ncbigene:11216 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch UMLS:C1412538 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:694 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:ARL3 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch ncbigene:403 semapv:UnspecifiedMatching -OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:369 semapv:UnspecifiedMatching -OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:AKAP11 semapv:UnspecifiedMatching -OMIM:604696 AKAP11 skos:exactMatch ncbigene:11215 semapv:UnspecifiedMatching -OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:10625 semapv:UnspecifiedMatching -OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:CCL26 semapv:UnspecifiedMatching -OMIM:604697 CCL26 skos:exactMatch ncbigene:10344 semapv:UnspecifiedMatching -OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:370 semapv:UnspecifiedMatching -OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:AKAP12 semapv:UnspecifiedMatching -OMIM:604698 AKAP12 skos:exactMatch ncbigene:9590 semapv:UnspecifiedMatching -OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:662 semapv:UnspecifiedMatching -OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:ARFRP1 semapv:UnspecifiedMatching -OMIM:604699 ARFRP1 skos:exactMatch ncbigene:10139 semapv:UnspecifiedMatching -OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:11982 semapv:UnspecifiedMatching -OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:TOM1 semapv:UnspecifiedMatching -OMIM:604700 TOM1 skos:exactMatch ncbigene:10043 semapv:UnspecifiedMatching -OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:11983 semapv:UnspecifiedMatching -OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:TOM1L1 semapv:UnspecifiedMatching -OMIM:604701 TOM1L1 skos:exactMatch ncbigene:10040 semapv:UnspecifiedMatching -OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:5003 semapv:UnspecifiedMatching -OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:HMGXB4 semapv:UnspecifiedMatching -OMIM:604702 HMGXB4 skos:exactMatch ncbigene:10042 semapv:UnspecifiedMatching -OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:973 semapv:UnspecifiedMatching -OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:BCAR3 semapv:UnspecifiedMatching -OMIM:604704 BCAR3 skos:exactMatch ncbigene:8412 semapv:UnspecifiedMatching -OMIM:604705 MERTK skos:exactMatch hgnc.symbol:7027 semapv:UnspecifiedMatching -OMIM:604705 MERTK skos:exactMatch hgnc.symbol:MERTK semapv:UnspecifiedMatching -OMIM:604705 MERTK skos:exactMatch ncbigene:10461 semapv:UnspecifiedMatching -OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:382 semapv:UnspecifiedMatching -OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:AKR1B10 semapv:UnspecifiedMatching -OMIM:604707 AKR1B10 skos:exactMatch ncbigene:57016 semapv:UnspecifiedMatching -OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:7774 semapv:UnspecifiedMatching -OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:NFAT5 semapv:UnspecifiedMatching -OMIM:604708 NFAT5 skos:exactMatch ncbigene:10725 semapv:UnspecifiedMatching -OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:11806 semapv:UnspecifiedMatching -OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:TIAM2 semapv:UnspecifiedMatching -OMIM:604709 TIAM2 skos:exactMatch ncbigene:26230 semapv:UnspecifiedMatching -OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:6717 semapv:UnspecifiedMatching -OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:LTBP4 semapv:UnspecifiedMatching -OMIM:604710 LTBP4 skos:exactMatch ncbigene:8425 semapv:UnspecifiedMatching -OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:12504 semapv:UnspecifiedMatching -OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:UBL3 semapv:UnspecifiedMatching -OMIM:604711 UBL3 skos:exactMatch ncbigene:5412 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C1424883 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:17296 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:RRM2B semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch ncbigene:50484 semapv:UnspecifiedMatching -OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:10576 semapv:UnspecifiedMatching -OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:CLEC11A semapv:UnspecifiedMatching -OMIM:604713 CLEC11A skos:exactMatch ncbigene:6320 semapv:UnspecifiedMatching -OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:12382 semapv:UnspecifiedMatching -OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:TSPYL1 semapv:UnspecifiedMatching -OMIM:604714 TSPYL1 skos:exactMatch ncbigene:7259 semapv:UnspecifiedMatching -OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:12542 semapv:UnspecifiedMatching -OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:UGT2A1 semapv:UnspecifiedMatching -OMIM:604716 UGT2A1 skos:exactMatch ncbigene:10941 semapv:UnspecifiedMatching -OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:12398 semapv:UnspecifiedMatching -OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:TTF2 semapv:UnspecifiedMatching -OMIM:604718 TTF2 skos:exactMatch ncbigene:8458 semapv:UnspecifiedMatching -OMIM:604719 STK16 skos:exactMatch hgnc.symbol:11394 semapv:UnspecifiedMatching -OMIM:604719 STK16 skos:exactMatch hgnc.symbol:STK16 semapv:UnspecifiedMatching -OMIM:604719 STK16 skos:exactMatch ncbigene:8576 semapv:UnspecifiedMatching -OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:11762 semapv:UnspecifiedMatching -OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:TFR2 semapv:UnspecifiedMatching -OMIM:604720 TFR2 skos:exactMatch ncbigene:7036 semapv:UnspecifiedMatching -OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:16885 semapv:UnspecifiedMatching -OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:SH2D3A semapv:UnspecifiedMatching -OMIM:604721 SH2D3A skos:exactMatch ncbigene:10045 semapv:UnspecifiedMatching -OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:16884 semapv:UnspecifiedMatching -OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:SH2D3C semapv:UnspecifiedMatching -OMIM:604722 SH2D3C skos:exactMatch ncbigene:10044 semapv:UnspecifiedMatching -OMIM:604723 TSFM skos:exactMatch hgnc.symbol:12367 semapv:UnspecifiedMatching -OMIM:604723 TSFM skos:exactMatch hgnc.symbol:TSFM semapv:UnspecifiedMatching -OMIM:604723 TSFM skos:exactMatch ncbigene:10102 semapv:UnspecifiedMatching -OMIM:604724 HPSE skos:exactMatch hgnc.symbol:5164 semapv:UnspecifiedMatching -OMIM:604724 HPSE skos:exactMatch hgnc.symbol:HPSE semapv:UnspecifiedMatching -OMIM:604724 HPSE skos:exactMatch ncbigene:10855 semapv:UnspecifiedMatching -OMIM:604725 USP2 skos:exactMatch hgnc.symbol:12618 semapv:UnspecifiedMatching -OMIM:604725 USP2 skos:exactMatch hgnc.symbol:USP2 semapv:UnspecifiedMatching -OMIM:604725 USP2 skos:exactMatch ncbigene:9099 semapv:UnspecifiedMatching -OMIM:604726 STK17A skos:exactMatch hgnc.symbol:11395 semapv:UnspecifiedMatching -OMIM:604726 STK17A skos:exactMatch hgnc.symbol:STK17A semapv:UnspecifiedMatching -OMIM:604726 STK17A skos:exactMatch ncbigene:9263 semapv:UnspecifiedMatching -OMIM:604727 STK17B skos:exactMatch hgnc.symbol:11396 semapv:UnspecifiedMatching -OMIM:604727 STK17B skos:exactMatch hgnc.symbol:STK17B semapv:UnspecifiedMatching -OMIM:604727 STK17B skos:exactMatch ncbigene:9262 semapv:UnspecifiedMatching -OMIM:604728 USP3 skos:exactMatch hgnc.symbol:12626 semapv:UnspecifiedMatching -OMIM:604728 USP3 skos:exactMatch hgnc.symbol:USP3 semapv:UnspecifiedMatching -OMIM:604728 USP3 skos:exactMatch ncbigene:9960 semapv:UnspecifiedMatching -OMIM:604729 USP21 skos:exactMatch hgnc.symbol:12620 semapv:UnspecifiedMatching -OMIM:604729 USP21 skos:exactMatch hgnc.symbol:USP21 semapv:UnspecifiedMatching -OMIM:604729 USP21 skos:exactMatch ncbigene:27005 semapv:UnspecifiedMatching -OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:12425 semapv:UnspecifiedMatching -OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:TULP3 semapv:UnspecifiedMatching -OMIM:604730 TULP3 skos:exactMatch ncbigene:7289 semapv:UnspecifiedMatching -OMIM:604731 USP15 skos:exactMatch hgnc.symbol:12613 semapv:UnspecifiedMatching -OMIM:604731 USP15 skos:exactMatch hgnc.symbol:USP15 semapv:UnspecifiedMatching -OMIM:604731 USP15 skos:exactMatch ncbigene:9958 semapv:UnspecifiedMatching -OMIM:604732 TFEC skos:exactMatch hgnc.symbol:11754 semapv:UnspecifiedMatching -OMIM:604732 TFEC skos:exactMatch hgnc.symbol:TFEC semapv:UnspecifiedMatching -OMIM:604732 TFEC skos:exactMatch ncbigene:22797 semapv:UnspecifiedMatching -OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:12730 semapv:UnspecifiedMatching -OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:WARS2 semapv:UnspecifiedMatching -OMIM:604733 WARS2 skos:exactMatch ncbigene:10352 semapv:UnspecifiedMatching -OMIM:604734 WDR1 skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching -OMIM:604734 WDR1 skos:exactMatch UMLS:C1421493 semapv:UnspecifiedMatching -OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:12754 semapv:UnspecifiedMatching -OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:WDR1 semapv:UnspecifiedMatching -OMIM:604734 WDR1 skos:exactMatch ncbigene:9948 semapv:UnspecifiedMatching -OMIM:604735 USP16 skos:exactMatch hgnc.symbol:12614 semapv:UnspecifiedMatching -OMIM:604735 USP16 skos:exactMatch hgnc.symbol:USP16 semapv:UnspecifiedMatching -OMIM:604735 USP16 skos:exactMatch ncbigene:10600 semapv:UnspecifiedMatching -OMIM:604736 USP25 skos:exactMatch hgnc.symbol:12624 semapv:UnspecifiedMatching -OMIM:604736 USP25 skos:exactMatch hgnc.symbol:USP25 semapv:UnspecifiedMatching -OMIM:604736 USP25 skos:exactMatch ncbigene:29761 semapv:UnspecifiedMatching -OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:12755 semapv:UnspecifiedMatching -OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:WDR3 semapv:UnspecifiedMatching -OMIM:604737 WDR3 skos:exactMatch ncbigene:10885 semapv:UnspecifiedMatching -OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:1610 semapv:UnspecifiedMatching -OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:CCR9 semapv:UnspecifiedMatching -OMIM:604738 CCR9 skos:exactMatch ncbigene:10803 semapv:UnspecifiedMatching -OMIM:604739 RBM39 skos:exactMatch UMLS:C1826781 semapv:UnspecifiedMatching -OMIM:604739 RBM39 skos:exactMatch hgnc.symbol:15923 semapv:UnspecifiedMatching -OMIM:604739 RBM39 skos:exactMatch hgnc.symbol:RBM39 semapv:UnspecifiedMatching -OMIM:604739 RBM39 skos:exactMatch ncbigene:9584 semapv:UnspecifiedMatching -OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:12876 semapv:UnspecifiedMatching -OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:SLC39A1 semapv:UnspecifiedMatching -OMIM:604740 SLC39A1 skos:exactMatch ncbigene:27173 semapv:UnspecifiedMatching -OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:388 semapv:UnspecifiedMatching -OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:AKR1D1 semapv:UnspecifiedMatching -OMIM:604741 AKR1D1 skos:exactMatch ncbigene:6718 semapv:UnspecifiedMatching -OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:2700 semapv:UnspecifiedMatching -OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:DCLK1 semapv:UnspecifiedMatching -OMIM:604742 DCLK1 skos:exactMatch ncbigene:9201 semapv:UnspecifiedMatching -OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:2715 semapv:UnspecifiedMatching -OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:DDAH1 semapv:UnspecifiedMatching -OMIM:604743 DDAH1 skos:exactMatch ncbigene:23576 semapv:UnspecifiedMatching -OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:2716 semapv:UnspecifiedMatching -OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:DDAH2 semapv:UnspecifiedMatching -OMIM:604744 DDAH2 skos:exactMatch ncbigene:23564 semapv:UnspecifiedMatching -OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:11646 semapv:UnspecifiedMatching -OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:TCFL5 semapv:UnspecifiedMatching -OMIM:604745 TCFL5 skos:exactMatch ncbigene:10732 semapv:UnspecifiedMatching -OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:11732 semapv:UnspecifiedMatching -OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:TESK2 semapv:UnspecifiedMatching -OMIM:604746 TESK2 skos:exactMatch ncbigene:10420 semapv:UnspecifiedMatching -OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:11193 semapv:UnspecifiedMatching -OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:SOX14 semapv:UnspecifiedMatching -OMIM:604747 SOX14 skos:exactMatch ncbigene:8403 semapv:UnspecifiedMatching -OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:11192 semapv:UnspecifiedMatching -OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:SOX13 semapv:UnspecifiedMatching -OMIM:604748 SOX13 skos:exactMatch ncbigene:9580 semapv:UnspecifiedMatching -OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:12866 semapv:UnspecifiedMatching -OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:ZNF235 semapv:UnspecifiedMatching -OMIM:604749 ZNF235 skos:exactMatch ncbigene:9310 semapv:UnspecifiedMatching -OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:13027 semapv:UnspecifiedMatching -OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:ZNF234 semapv:UnspecifiedMatching -OMIM:604750 ZNF234 skos:exactMatch ncbigene:10780 semapv:UnspecifiedMatching -OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:13059 semapv:UnspecifiedMatching -OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:ZNF266 semapv:UnspecifiedMatching -OMIM:604751 ZNF266 skos:exactMatch ncbigene:10781 semapv:UnspecifiedMatching -OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:13060 semapv:UnspecifiedMatching -OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:ZNF267 semapv:UnspecifiedMatching -OMIM:604752 ZNF267 skos:exactMatch ncbigene:10308 semapv:UnspecifiedMatching -OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:13061 semapv:UnspecifiedMatching -OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:ZNF268 semapv:UnspecifiedMatching -OMIM:604753 ZNF268 skos:exactMatch ncbigene:10795 semapv:UnspecifiedMatching -OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:13065 semapv:UnspecifiedMatching -OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:ZNF271P semapv:UnspecifiedMatching -OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:21628 semapv:UnspecifiedMatching -OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:ZNF460 semapv:UnspecifiedMatching -OMIM:604755 ZNF272 skos:exactMatch ncbigene:10794 semapv:UnspecifiedMatching -OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:13067 semapv:UnspecifiedMatching -OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:ZNF273 semapv:UnspecifiedMatching -OMIM:604756 ZNF273 skos:exactMatch ncbigene:10793 semapv:UnspecifiedMatching -OMIM:604758 RELB skos:exactMatch hgnc.symbol:9956 semapv:UnspecifiedMatching -OMIM:604758 RELB skos:exactMatch hgnc.symbol:RELB semapv:UnspecifiedMatching -OMIM:604758 RELB skos:exactMatch ncbigene:5971 semapv:UnspecifiedMatching -OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:18130 semapv:UnspecifiedMatching -OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:SYCP3 semapv:UnspecifiedMatching -OMIM:604759 SYCP3 skos:exactMatch ncbigene:50511 semapv:UnspecifiedMatching -OMIM:604760 ZNF236 skos:exactMatch UMLS:C1421723 semapv:UnspecifiedMatching -OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:13028 semapv:UnspecifiedMatching -OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:ZNF236 semapv:UnspecifiedMatching -OMIM:604760 ZNF236 skos:exactMatch ncbigene:7776 semapv:UnspecifiedMatching -OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:13008 semapv:UnspecifiedMatching -OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:ZFAND5 semapv:UnspecifiedMatching -OMIM:604761 ZFAND5 skos:exactMatch ncbigene:7763 semapv:UnspecifiedMatching -OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:17070 semapv:UnspecifiedMatching -OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:SWAP70 semapv:UnspecifiedMatching -OMIM:604762 switch-associated protein 70 skos:exactMatch ncbigene:23075 semapv:UnspecifiedMatching -OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:14193 semapv:UnspecifiedMatching -OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:ARHGEF12 semapv:UnspecifiedMatching -OMIM:604763 ARHGEF12 skos:exactMatch ncbigene:23365 semapv:UnspecifiedMatching -OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:12871 semapv:UnspecifiedMatching -OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:ZHX1 semapv:UnspecifiedMatching -OMIM:604764 ZHX1 skos:exactMatch ncbigene:11244 semapv:UnspecifiedMatching -OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching -OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:13394 semapv:UnspecifiedMatching -OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:NPHS2 semapv:UnspecifiedMatching -OMIM:604766 NPHS2 skos:exactMatch ncbigene:7827 semapv:UnspecifiedMatching -OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:23658 semapv:UnspecifiedMatching -OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:DELEC1 semapv:UnspecifiedMatching -OMIM:604767 DEC1 skos:exactMatch ncbigene:50514 semapv:UnspecifiedMatching -OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:13047 semapv:UnspecifiedMatching -OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:ZNF254 semapv:UnspecifiedMatching -OMIM:604768 ZNF254 skos:exactMatch ncbigene:9534 semapv:UnspecifiedMatching -OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:9354 semapv:UnspecifiedMatching -OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:PRDX3 semapv:UnspecifiedMatching -OMIM:604769 PRDX3 skos:exactMatch ncbigene:10935 semapv:UnspecifiedMatching -OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:83 semapv:UnspecifiedMatching -OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:ACAA2 semapv:UnspecifiedMatching -OMIM:604770 ACAA2 skos:exactMatch ncbigene:10449 semapv:UnspecifiedMatching -OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching -OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching -OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:87 semapv:UnspecifiedMatching -OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:ACAD8 semapv:UnspecifiedMatching -OMIM:604773 ACAD8 skos:exactMatch ncbigene:27034 semapv:UnspecifiedMatching -OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:491 semapv:UnspecifiedMatching -OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:ANGPTL3 semapv:UnspecifiedMatching -OMIM:604774 ANGPTL3 skos:exactMatch ncbigene:27329 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch UMLS:C1412407 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch UMLS:C3808667 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:497 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:TRPA1 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch ncbigene:8989 semapv:UnspecifiedMatching -OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:4953 semapv:UnspecifiedMatching -OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:HLA-DRB5 semapv:UnspecifiedMatching -OMIM:604776 HLA-DRB5 skos:exactMatch ncbigene:3127 semapv:UnspecifiedMatching -OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:207 semapv:UnspecifiedMatching -OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:ADAM29 semapv:UnspecifiedMatching -OMIM:604778 ADAM29 skos:exactMatch ncbigene:11086 semapv:UnspecifiedMatching -OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:208 semapv:UnspecifiedMatching -OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:ADAM30 semapv:UnspecifiedMatching -OMIM:604779 ADAM30 skos:exactMatch ncbigene:11085 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch UMLS:C1427541 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:21396 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:ABHD5 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch ncbigene:51099 semapv:UnspecifiedMatching -OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:744 semapv:UnspecifiedMatching -OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:ASH2L semapv:UnspecifiedMatching -OMIM:604782 ASH2L skos:exactMatch ncbigene:9070 semapv:UnspecifiedMatching -OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:2087 semapv:UnspecifiedMatching -OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:CLPTM1 semapv:UnspecifiedMatching -OMIM:604783 CLPTM1 skos:exactMatch ncbigene:1209 semapv:UnspecifiedMatching -OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:11614 semapv:UnspecifiedMatching -OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:TCEA2 semapv:UnspecifiedMatching -OMIM:604784 TCEA2 skos:exactMatch ncbigene:6919 semapv:UnspecifiedMatching -OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:2512 semapv:UnspecifiedMatching -OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:CTNNAL1 semapv:UnspecifiedMatching -OMIM:604785 CTNNAL1 skos:exactMatch ncbigene:8727 semapv:UnspecifiedMatching -OMIM:604786 ARL4A skos:exactMatch UMLS:C1538929 semapv:UnspecifiedMatching -OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:695 semapv:UnspecifiedMatching -OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:ARL4A semapv:UnspecifiedMatching -OMIM:604786 ARL4A skos:exactMatch ncbigene:10124 semapv:UnspecifiedMatching -OMIM:604787 ARL4C skos:exactMatch UMLS:C1824201 semapv:UnspecifiedMatching -OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:698 semapv:UnspecifiedMatching -OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:ARL4C semapv:UnspecifiedMatching -OMIM:604787 ARL4C skos:exactMatch ncbigene:10123 semapv:UnspecifiedMatching -OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:10475 semapv:UnspecifiedMatching -OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:RUVBL2 semapv:UnspecifiedMatching -OMIM:604788 RUVBL2 skos:exactMatch ncbigene:10856 semapv:UnspecifiedMatching -OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:6136 semapv:UnspecifiedMatching -OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:ITGA11 semapv:UnspecifiedMatching -OMIM:604789 ITGA11 skos:exactMatch ncbigene:22801 semapv:UnspecifiedMatching -OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:14920 semapv:UnspecifiedMatching -OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:TAS2R14 semapv:UnspecifiedMatching -OMIM:604790 TAS2R14 skos:exactMatch ncbigene:50840 semapv:UnspecifiedMatching -OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:14918 semapv:UnspecifiedMatching -OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:TAS2R10 semapv:UnspecifiedMatching -OMIM:604791 TAS2R10 skos:exactMatch ncbigene:50839 semapv:UnspecifiedMatching -OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:14919 semapv:UnspecifiedMatching -OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:TAS2R13 semapv:UnspecifiedMatching -OMIM:604792 TAS2R13 skos:exactMatch ncbigene:50838 semapv:UnspecifiedMatching -OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:14913 semapv:UnspecifiedMatching -OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:TAS2R7 semapv:UnspecifiedMatching -OMIM:604793 TAS2R7 skos:exactMatch ncbigene:50837 semapv:UnspecifiedMatching -OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:14915 semapv:UnspecifiedMatching -OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:TAS2R8 semapv:UnspecifiedMatching -OMIM:604794 TAS2R8 skos:exactMatch ncbigene:50836 semapv:UnspecifiedMatching -OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:14917 semapv:UnspecifiedMatching -OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:TAS2R9 semapv:UnspecifiedMatching -OMIM:604795 TAS2R9 skos:exactMatch ncbigene:50835 semapv:UnspecifiedMatching -OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:14909 semapv:UnspecifiedMatching -OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:TAS2R1 semapv:UnspecifiedMatching -OMIM:604796 TAS2R1 skos:exactMatch ncbigene:50834 semapv:UnspecifiedMatching -OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:605 semapv:UnspecifiedMatching -OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:APOBEC2 semapv:UnspecifiedMatching -OMIM:604797 APOBEC2 skos:exactMatch ncbigene:10930 semapv:UnspecifiedMatching -OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:17512 semapv:UnspecifiedMatching -OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:HOMER1 semapv:UnspecifiedMatching -OMIM:604798 HOMER1 skos:exactMatch ncbigene:9456 semapv:UnspecifiedMatching -OMIM:604799 HOMER2 skos:exactMatch UMLS:C1424987 semapv:UnspecifiedMatching -OMIM:604799 HOMER2 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching -OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:17513 semapv:UnspecifiedMatching -OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:HOMER2 semapv:UnspecifiedMatching -OMIM:604799 HOMER2 skos:exactMatch ncbigene:9455 semapv:UnspecifiedMatching -OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:17514 semapv:UnspecifiedMatching -OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:HOMER3 semapv:UnspecifiedMatching -OMIM:604800 HOMER3 skos:exactMatch ncbigene:9454 semapv:UnspecifiedMatching -OMIM:604802 huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching -OMIM:604802 huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch UMLS:C1876213 semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:1291 semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:DOP1B semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch ncbigene:9980 semapv:UnspecifiedMatching -OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:3760 semapv:UnspecifiedMatching -OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:FLRT1 semapv:UnspecifiedMatching -OMIM:604806 FLRT1 skos:exactMatch ncbigene:23769 semapv:UnspecifiedMatching -OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:3761 semapv:UnspecifiedMatching -OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:FLRT2 semapv:UnspecifiedMatching -OMIM:604807 FLRT2 skos:exactMatch ncbigene:23768 semapv:UnspecifiedMatching -OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:3762 semapv:UnspecifiedMatching -OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:FLRT3 semapv:UnspecifiedMatching -OMIM:604808 FLRT3 skos:exactMatch ncbigene:23767 semapv:UnspecifiedMatching -OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:6602 semapv:UnspecifiedMatching -OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:LILRA1 semapv:UnspecifiedMatching -OMIM:604810 LILRA1 skos:exactMatch ncbigene:11024 semapv:UnspecifiedMatching -OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:6605 semapv:UnspecifiedMatching -OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:LILRB1 semapv:UnspecifiedMatching -OMIM:604811 LILRB1 skos:exactMatch ncbigene:10859 semapv:UnspecifiedMatching -OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:6603 semapv:UnspecifiedMatching -OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:LILRA2 semapv:UnspecifiedMatching -OMIM:604812 LILRA2 skos:exactMatch ncbigene:11027 semapv:UnspecifiedMatching -OMIM:604813 COX17 skos:exactMatch hgnc.symbol:2264 semapv:UnspecifiedMatching -OMIM:604813 COX17 skos:exactMatch hgnc.symbol:COX17 semapv:UnspecifiedMatching -OMIM:604813 COX17 skos:exactMatch ncbigene:10063 semapv:UnspecifiedMatching -OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:6609 semapv:UnspecifiedMatching -OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:LILRB5 semapv:UnspecifiedMatching -OMIM:604814 LILRB5 skos:exactMatch ncbigene:10990 semapv:UnspecifiedMatching -OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:6606 semapv:UnspecifiedMatching -OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:LILRB2 semapv:UnspecifiedMatching -OMIM:604815 LILRB2 skos:exactMatch ncbigene:10288 semapv:UnspecifiedMatching -OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:1973 semapv:UnspecifiedMatching -OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:CHST5 semapv:UnspecifiedMatching -OMIM:604817 CHST5 skos:exactMatch ncbigene:23563 semapv:UnspecifiedMatching -OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:6604 semapv:UnspecifiedMatching -OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:LILRA3 semapv:UnspecifiedMatching -OMIM:604818 LILRA3 skos:exactMatch ncbigene:11026 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch UMLS:C1858105 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch UMLS:C3810023 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:17042 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:PUF60 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch ncbigene:22827 semapv:UnspecifiedMatching -OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:6607 semapv:UnspecifiedMatching -OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:LILRB3 semapv:UnspecifiedMatching -OMIM:604820 LILRB3 skos:exactMatch ncbigene:11025 semapv:UnspecifiedMatching -OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:6608 semapv:UnspecifiedMatching -OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:LILRB4 semapv:UnspecifiedMatching -OMIM:604821 LILRB4 skos:exactMatch ncbigene:11006 semapv:UnspecifiedMatching -OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:1478 semapv:UnspecifiedMatching -OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:CAPN11 semapv:UnspecifiedMatching -OMIM:604822 CAPN11 skos:exactMatch ncbigene:11131 semapv:UnspecifiedMatching -OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:956 semapv:UnspecifiedMatching -OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:BARX2 semapv:UnspecifiedMatching -OMIM:604823 BARX2 skos:exactMatch ncbigene:8538 semapv:UnspecifiedMatching -OMIM:604824 KL skos:exactMatch hgnc.symbol:6344 semapv:UnspecifiedMatching -OMIM:604824 KL skos:exactMatch hgnc.symbol:KL semapv:UnspecifiedMatching -OMIM:604824 KL skos:exactMatch ncbigene:9365 semapv:UnspecifiedMatching -OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:3659 semapv:UnspecifiedMatching -OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:FEZ1 semapv:UnspecifiedMatching -OMIM:604825 FEZ1 skos:exactMatch ncbigene:9638 semapv:UnspecifiedMatching -OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:3660 semapv:UnspecifiedMatching -OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:FEZ2 semapv:UnspecifiedMatching -OMIM:604826 FEZ2 skos:exactMatch ncbigene:9637 semapv:UnspecifiedMatching -OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:10646 semapv:UnspecifiedMatching -OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:XCL2 semapv:UnspecifiedMatching -OMIM:604828 XCL2 skos:exactMatch ncbigene:6846 semapv:UnspecifiedMatching -OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:3045 semapv:UnspecifiedMatching -OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:DSCR4 semapv:UnspecifiedMatching -OMIM:604829 DSCR4 skos:exactMatch ncbigene:10281 semapv:UnspecifiedMatching -OMIM:604831 EVC skos:exactMatch hgnc.symbol:3497 semapv:UnspecifiedMatching -OMIM:604831 EVC skos:exactMatch hgnc.symbol:EVC semapv:UnspecifiedMatching -OMIM:604831 EVC skos:exactMatch ncbigene:2121 semapv:UnspecifiedMatching -OMIM:604832 CA14 skos:exactMatch hgnc.symbol:1372 semapv:UnspecifiedMatching -OMIM:604832 CA14 skos:exactMatch hgnc.symbol:CA14 semapv:UnspecifiedMatching -OMIM:604832 CA14 skos:exactMatch ncbigene:23632 semapv:UnspecifiedMatching -OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:10626 semapv:UnspecifiedMatching -OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:CCL27 semapv:UnspecifiedMatching -OMIM:604833 CCL27 skos:exactMatch ncbigene:10850 semapv:UnspecifiedMatching -OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:11584 semapv:UnspecifiedMatching -OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:TBK1 semapv:UnspecifiedMatching -OMIM:604834 TBK1 skos:exactMatch ncbigene:29110 semapv:UnspecifiedMatching -OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:3067 semapv:UnspecifiedMatching -OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:DUSP12 semapv:UnspecifiedMatching -OMIM:604835 DUSP12 skos:exactMatch ncbigene:11266 semapv:UnspecifiedMatching -OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:1605 semapv:UnspecifiedMatching -OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:CCR4 semapv:UnspecifiedMatching -OMIM:604836 CCR4 skos:exactMatch ncbigene:1233 semapv:UnspecifiedMatching -OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:4502 semapv:UnspecifiedMatching -OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:PTGDR2 semapv:UnspecifiedMatching -OMIM:604837 PTGDR2 skos:exactMatch ncbigene:11251 semapv:UnspecifiedMatching -OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:4503 semapv:UnspecifiedMatching -OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:GPR45 semapv:UnspecifiedMatching -OMIM:604838 GPR45 skos:exactMatch ncbigene:11250 semapv:UnspecifiedMatching -OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:3722 semapv:UnspecifiedMatching -OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:FKBP6 semapv:UnspecifiedMatching -OMIM:604839 FKBP6 skos:exactMatch ncbigene:8468 semapv:UnspecifiedMatching -OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:3724 semapv:UnspecifiedMatching -OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:FKBP8 semapv:UnspecifiedMatching -OMIM:604840 FKBP8 skos:exactMatch ncbigene:23770 semapv:UnspecifiedMatching -OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:10967 semapv:UnspecifiedMatching -OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:SLC22A3 semapv:UnspecifiedMatching -OMIM:604842 SLC22A3 skos:exactMatch ncbigene:6581 semapv:UnspecifiedMatching -OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:10959 semapv:UnspecifiedMatching -OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:SLCO1B1 semapv:UnspecifiedMatching -OMIM:604843 SLCO1B1 skos:exactMatch ncbigene:10599 semapv:UnspecifiedMatching -OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:5193 semapv:UnspecifiedMatching -OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:HS2ST1 semapv:UnspecifiedMatching -OMIM:604844 HS2ST1 skos:exactMatch ncbigene:9653 semapv:UnspecifiedMatching -OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:8637 semapv:UnspecifiedMatching -OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:PCA3 semapv:UnspecifiedMatching -OMIM:604845 PCA3 skos:exactMatch ncbigene:50652 semapv:UnspecifiedMatching -OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:5201 semapv:UnspecifiedMatching -OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:HS6ST1 semapv:UnspecifiedMatching -OMIM:604846 HS6ST1 skos:exactMatch ncbigene:9394 semapv:UnspecifiedMatching -OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:4481 semapv:UnspecifiedMatching -OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:GPR26 semapv:UnspecifiedMatching -OMIM:604847 GPR26 skos:exactMatch ncbigene:2849 semapv:UnspecifiedMatching -OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:4514 semapv:UnspecifiedMatching -OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:TAAR2 semapv:UnspecifiedMatching -OMIM:604849 TAAR2 skos:exactMatch ncbigene:9287 semapv:UnspecifiedMatching -OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:2240 semapv:UnspecifiedMatching -OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:COPS5 semapv:UnspecifiedMatching -OMIM:604850 COPS5 skos:exactMatch ncbigene:10987 semapv:UnspecifiedMatching -OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:4610 semapv:UnspecifiedMatching -OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:GRSF1 semapv:UnspecifiedMatching -OMIM:604851 GRSF1 skos:exactMatch ncbigene:2926 semapv:UnspecifiedMatching -OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:10638 semapv:UnspecifiedMatching -OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:CXCL11 semapv:UnspecifiedMatching -OMIM:604852 CXCL11 skos:exactMatch ncbigene:6373 semapv:UnspecifiedMatching -OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:14484 semapv:UnspecifiedMatching -OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:MRPL28 semapv:UnspecifiedMatching -OMIM:604853 MRPL28 skos:exactMatch ncbigene:10573 semapv:UnspecifiedMatching -OMIM:604854 INMT skos:exactMatch hgnc.symbol:6069 semapv:UnspecifiedMatching -OMIM:604854 INMT skos:exactMatch hgnc.symbol:INMT semapv:UnspecifiedMatching -OMIM:604854 INMT skos:exactMatch ncbigene:11185 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch UMLS:C1420408 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:11301 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:SRP54 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch ncbigene:6729 semapv:UnspecifiedMatching -OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:11302 semapv:UnspecifiedMatching -OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:SRP68 semapv:UnspecifiedMatching -OMIM:604858 SRP68 skos:exactMatch ncbigene:6730 semapv:UnspecifiedMatching -OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:6633 semapv:UnspecifiedMatching -OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:LMCD1 semapv:UnspecifiedMatching -OMIM:604859 LMCD1 skos:exactMatch ncbigene:29995 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch UMLS:C1416991 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:6819 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:MALT1 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch ncbigene:10892 semapv:UnspecifiedMatching -OMIM:604861 LATS2 skos:exactMatch UMLS:C1334331 semapv:UnspecifiedMatching -OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:6515 semapv:UnspecifiedMatching -OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:LATS2 semapv:UnspecifiedMatching -OMIM:604861 LATS2 skos:exactMatch ncbigene:26524 semapv:UnspecifiedMatching -OMIM:604862 CD207 skos:exactMatch hgnc.symbol:17935 semapv:UnspecifiedMatching -OMIM:604862 CD207 skos:exactMatch hgnc.symbol:CD207 semapv:UnspecifiedMatching -OMIM:604862 CD207 skos:exactMatch ncbigene:50489 semapv:UnspecifiedMatching -OMIM:604863 LRAT skos:exactMatch hgnc.symbol:6685 semapv:UnspecifiedMatching -OMIM:604863 LRAT skos:exactMatch hgnc.symbol:LRAT semapv:UnspecifiedMatching -OMIM:604863 LRAT skos:exactMatch ncbigene:9227 semapv:UnspecifiedMatching -OMIM:604865 KLF7 skos:exactMatch UMLS:C1416662 semapv:UnspecifiedMatching -OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:6350 semapv:UnspecifiedMatching -OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:KLF7 semapv:UnspecifiedMatching -OMIM:604865 KLF7 skos:exactMatch ncbigene:8609 semapv:UnspecifiedMatching -OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:9047 semapv:UnspecifiedMatching -OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:PLAGL2 semapv:UnspecifiedMatching -OMIM:604866 PLAGL2 skos:exactMatch ncbigene:5326 semapv:UnspecifiedMatching -OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:14921 semapv:UnspecifiedMatching -OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:TAS2R16 semapv:UnspecifiedMatching -OMIM:604867 TAS2R16 skos:exactMatch ncbigene:50833 semapv:UnspecifiedMatching -OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:14910 semapv:UnspecifiedMatching -OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:TAS2R3 semapv:UnspecifiedMatching -OMIM:604868 TAS2R3 skos:exactMatch ncbigene:50831 semapv:UnspecifiedMatching -OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:14911 semapv:UnspecifiedMatching -OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:TAS2R4 semapv:UnspecifiedMatching -OMIM:604869 TAS2R4 skos:exactMatch ncbigene:50832 semapv:UnspecifiedMatching -OMIM:604870 MARCO skos:exactMatch hgnc.symbol:6895 semapv:UnspecifiedMatching -OMIM:604870 MARCO skos:exactMatch hgnc.symbol:MARCO semapv:UnspecifiedMatching -OMIM:604870 MARCO skos:exactMatch ncbigene:8685 semapv:UnspecifiedMatching -OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:7172 semapv:UnspecifiedMatching -OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:MMP24 semapv:UnspecifiedMatching -OMIM:604871 MMP24 skos:exactMatch ncbigene:10893 semapv:UnspecifiedMatching -OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:8748 semapv:UnspecifiedMatching -OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:PCSK7 semapv:UnspecifiedMatching -OMIM:604872 PCSK7 skos:exactMatch ncbigene:9159 semapv:UnspecifiedMatching -OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:3496 semapv:UnspecifiedMatching -OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:MPZL2 semapv:UnspecifiedMatching -OMIM:604873 MPZL2 skos:exactMatch ncbigene:10205 semapv:UnspecifiedMatching -OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:6380 semapv:UnspecifiedMatching -OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:KLRG1 semapv:UnspecifiedMatching -OMIM:604874 KLRG1 skos:exactMatch ncbigene:10219 semapv:UnspecifiedMatching -OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:7608 semapv:UnspecifiedMatching -OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:MYO9A semapv:UnspecifiedMatching -OMIM:604875 MYO9A skos:exactMatch ncbigene:4649 semapv:UnspecifiedMatching -OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:3041 semapv:UnspecifiedMatching -OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:RCAN2 semapv:UnspecifiedMatching -OMIM:604876 RCAN2 skos:exactMatch ncbigene:10231 semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch UMLS:C1416967 semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch hgnc.symbol:6780 semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch hgnc.symbol:MAFF semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch ncbigene:23764 semapv:UnspecifiedMatching -OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:10914 semapv:UnspecifiedMatching -OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:SLC12A6 semapv:UnspecifiedMatching -OMIM:604878 SLC12A6 skos:exactMatch ncbigene:9990 semapv:UnspecifiedMatching -OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:10915 semapv:UnspecifiedMatching -OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:SLC12A7 semapv:UnspecifiedMatching -OMIM:604879 SLC12A7 skos:exactMatch ncbigene:10723 semapv:UnspecifiedMatching -OMIM:604881 RPH3AL skos:exactMatch UMLS:C1419624 semapv:UnspecifiedMatching -OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:10296 semapv:UnspecifiedMatching -OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:RPH3AL semapv:UnspecifiedMatching -OMIM:604881 RPH3AL skos:exactMatch ncbigene:9501 semapv:UnspecifiedMatching -OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:13806 semapv:UnspecifiedMatching -OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:NEUROG3 semapv:UnspecifiedMatching -OMIM:604882 NEUROG3 skos:exactMatch ncbigene:50674 semapv:UnspecifiedMatching -OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:4665 semapv:UnspecifiedMatching -OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:GTF3C2 semapv:UnspecifiedMatching -OMIM:604883 GTF3C2 skos:exactMatch ncbigene:2976 semapv:UnspecifiedMatching -OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:7749 semapv:UnspecifiedMatching -OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:NEK6 semapv:UnspecifiedMatching -OMIM:604884 NEK6 skos:exactMatch ncbigene:10783 semapv:UnspecifiedMatching -OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:7546 semapv:UnspecifiedMatching -OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:MYBBP1A semapv:UnspecifiedMatching -OMIM:604885 MYBBP1A skos:exactMatch ncbigene:10514 semapv:UnspecifiedMatching -OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:7864 semapv:UnspecifiedMatching -OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:EMC8 semapv:UnspecifiedMatching -OMIM:604886 EMC8 skos:exactMatch ncbigene:10328 semapv:UnspecifiedMatching -OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:7434 semapv:UnspecifiedMatching -OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:MTHFD2 semapv:UnspecifiedMatching -OMIM:604887 MTHFD2 skos:exactMatch ncbigene:10797 semapv:UnspecifiedMatching -OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:4666 semapv:UnspecifiedMatching -OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:GTF3C3 semapv:UnspecifiedMatching -OMIM:604888 GTF3C3 skos:exactMatch ncbigene:9330 semapv:UnspecifiedMatching -OMIM:604889 NBEA skos:exactMatch hgnc.symbol:7648 semapv:UnspecifiedMatching -OMIM:604889 NBEA skos:exactMatch hgnc.symbol:NBEA semapv:UnspecifiedMatching -OMIM:604889 NBEA skos:exactMatch ncbigene:26960 semapv:UnspecifiedMatching -OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:4668 semapv:UnspecifiedMatching -OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:GTF3C5 semapv:UnspecifiedMatching -OMIM:604890 GTF3C5 skos:exactMatch ncbigene:9328 semapv:UnspecifiedMatching -OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:7666 semapv:UnspecifiedMatching -OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:NCKAP1 semapv:UnspecifiedMatching -OMIM:604891 NCKAP1 skos:exactMatch ncbigene:10787 semapv:UnspecifiedMatching -OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:4667 semapv:UnspecifiedMatching -OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:GTF3C4 semapv:UnspecifiedMatching -OMIM:604892 GTF3C4 skos:exactMatch ncbigene:9329 semapv:UnspecifiedMatching -OMIM:604893 AIRN skos:exactMatch hgnc.symbol:34515 semapv:UnspecifiedMatching -OMIM:604893 AIRN skos:exactMatch hgnc.symbol:AIRN semapv:UnspecifiedMatching -OMIM:604893 AIRN skos:exactMatch ncbigene:100271873 semapv:UnspecifiedMatching -OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:8139 semapv:UnspecifiedMatching -OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:ONECUT2 semapv:UnspecifiedMatching -OMIM:604894 ONECUT2 skos:exactMatch ncbigene:9480 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch UMLS:C1420610 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch UMLS:C1858067 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch UMLS:C1876174 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:11599 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:TBX21 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch ncbigene:30009 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C1417174 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C1858054 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch UMLS:C4016908 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch hgnc.symbol:7108 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch hgnc.symbol:MKKS semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch ncbigene:8195 semapv:UnspecifiedMatching -OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:8866 semapv:UnspecifiedMatching -OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:PFDN1 semapv:UnspecifiedMatching -OMIM:604897 PFDN1 skos:exactMatch ncbigene:5201 semapv:UnspecifiedMatching -OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:8868 semapv:UnspecifiedMatching -OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:PFDN4 semapv:UnspecifiedMatching -OMIM:604898 PFDN4 skos:exactMatch ncbigene:5203 semapv:UnspecifiedMatching -OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:8869 semapv:UnspecifiedMatching -OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:PFDN5 semapv:UnspecifiedMatching -OMIM:604899 PFDN5 skos:exactMatch ncbigene:5204 semapv:UnspecifiedMatching -OMIM:604900 DGAT1 skos:exactMatch UMLS:C1414024 semapv:UnspecifiedMatching -OMIM:604900 DGAT1 skos:exactMatch UMLS:C4014516 semapv:UnspecifiedMatching -OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:2843 semapv:UnspecifiedMatching -OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:DGAT1 semapv:UnspecifiedMatching -OMIM:604900 DGAT1 skos:exactMatch ncbigene:8694 semapv:UnspecifiedMatching -OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:11551 semapv:UnspecifiedMatching -OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:BRF1 semapv:UnspecifiedMatching -OMIM:604902 BRF1 skos:exactMatch ncbigene:2972 semapv:UnspecifiedMatching -OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:11532 semapv:UnspecifiedMatching -OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:TAF1A semapv:UnspecifiedMatching -OMIM:604903 TAF1A skos:exactMatch ncbigene:9015 semapv:UnspecifiedMatching -OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:11533 semapv:UnspecifiedMatching -OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:TAF1B semapv:UnspecifiedMatching -OMIM:604904 TAF1B skos:exactMatch ncbigene:9014 semapv:UnspecifiedMatching -OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:11534 semapv:UnspecifiedMatching -OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:TAF1C semapv:UnspecifiedMatching -OMIM:604905 TAF1C skos:exactMatch ncbigene:9013 semapv:UnspecifiedMatching -OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:18153 semapv:UnspecifiedMatching -OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:TNFRSF13B semapv:UnspecifiedMatching -OMIM:604907 TNFRSF13B skos:exactMatch ncbigene:23495 semapv:UnspecifiedMatching -OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:9320 semapv:UnspecifiedMatching -OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:PPP4R1 semapv:UnspecifiedMatching -OMIM:604908 PPP4R1 skos:exactMatch ncbigene:9989 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch UMLS:C1417764 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:7878 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:CNOT2 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch ncbigene:4848 semapv:UnspecifiedMatching -OMIM:604910 CNOT3 skos:exactMatch UMLS:C1417765 semapv:UnspecifiedMatching -OMIM:604910 CNOT3 skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching -OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:7879 semapv:UnspecifiedMatching -OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:CNOT3 semapv:UnspecifiedMatching -OMIM:604910 CNOT3 skos:exactMatch ncbigene:4849 semapv:UnspecifiedMatching -OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:7880 semapv:UnspecifiedMatching -OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:CNOT4 semapv:UnspecifiedMatching -OMIM:604911 CNOT4 skos:exactMatch ncbigene:4850 semapv:UnspecifiedMatching -OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:11536 semapv:UnspecifiedMatching -OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:TAF2 semapv:UnspecifiedMatching -OMIM:604912 TAF2 skos:exactMatch ncbigene:6873 semapv:UnspecifiedMatching -OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:14101 semapv:UnspecifiedMatching -OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:CNOT7 semapv:UnspecifiedMatching -OMIM:604913 CNOT7 skos:exactMatch ncbigene:29883 semapv:UnspecifiedMatching -OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:19355 semapv:UnspecifiedMatching -OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:JMJD6 semapv:UnspecifiedMatching -OMIM:604914 JMJD6 skos:exactMatch ncbigene:23210 semapv:UnspecifiedMatching -OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:6852 semapv:UnspecifiedMatching -OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:MAP3K13 semapv:UnspecifiedMatching -OMIM:604915 MAP3K13 skos:exactMatch ncbigene:9175 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch UMLS:C1417763 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:7877 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:CNOT1 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch ncbigene:23019 semapv:UnspecifiedMatching -OMIM:604918 PCLO skos:exactMatch hgnc.symbol:13406 semapv:UnspecifiedMatching -OMIM:604918 PCLO skos:exactMatch hgnc.symbol:PCLO semapv:UnspecifiedMatching -OMIM:604918 PCLO skos:exactMatch ncbigene:27445 semapv:UnspecifiedMatching -OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:6865 semapv:UnspecifiedMatching -OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:MAP4K3 semapv:UnspecifiedMatching -OMIM:604921 MAP4K3 skos:exactMatch ncbigene:8491 semapv:UnspecifiedMatching -OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:6867 semapv:UnspecifiedMatching -OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:MAP4K5 semapv:UnspecifiedMatching -OMIM:604923 MAP4K5 skos:exactMatch ncbigene:11183 semapv:UnspecifiedMatching -OMIM:604924 PHAX skos:exactMatch hgnc.symbol:10241 semapv:UnspecifiedMatching -OMIM:604924 PHAX skos:exactMatch hgnc.symbol:PHAX semapv:UnspecifiedMatching -OMIM:604924 PHAX skos:exactMatch ncbigene:51808 semapv:UnspecifiedMatching -OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:9794 semapv:UnspecifiedMatching -OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:RABAC1 semapv:UnspecifiedMatching -OMIM:604925 RABAC1 skos:exactMatch ncbigene:10567 semapv:UnspecifiedMatching -OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:2498 semapv:UnspecifiedMatching -OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:CTDP1 semapv:UnspecifiedMatching -OMIM:604927 CTDP1 skos:exactMatch ncbigene:9150 semapv:UnspecifiedMatching -OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:7665 semapv:UnspecifiedMatching -OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:NCK2 semapv:UnspecifiedMatching -OMIM:604930 NCK2 skos:exactMatch ncbigene:8440 semapv:UnspecifiedMatching -OMIM:604932 PKIG skos:exactMatch hgnc.symbol:9019 semapv:UnspecifiedMatching -OMIM:604932 PKIG skos:exactMatch hgnc.symbol:PKIG semapv:UnspecifiedMatching -OMIM:604932 PKIG skos:exactMatch ncbigene:11142 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch UMLS:C1417505 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:7527 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:MUTYH semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch ncbigene:4595 semapv:UnspecifiedMatching -OMIM:604934 TBCE skos:exactMatch hgnc.symbol:11582 semapv:UnspecifiedMatching -OMIM:604934 TBCE skos:exactMatch hgnc.symbol:TBCE semapv:UnspecifiedMatching -OMIM:604934 TBCE skos:exactMatch ncbigene:6905 semapv:UnspecifiedMatching -OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:2935 semapv:UnspecifiedMatching -OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:DMRT2 semapv:UnspecifiedMatching -OMIM:604935 DMRT2 skos:exactMatch ncbigene:10655 semapv:UnspecifiedMatching -OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:6329 semapv:UnspecifiedMatching -OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:KIR2DL1 semapv:UnspecifiedMatching -OMIM:604936 KIR2DL1 skos:exactMatch ncbigene:3802 semapv:UnspecifiedMatching -OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:6330 semapv:UnspecifiedMatching -OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:KIR2DL2 semapv:UnspecifiedMatching -OMIM:604937 KIR2DL2 skos:exactMatch ncbigene:3803 semapv:UnspecifiedMatching -OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:6331 semapv:UnspecifiedMatching -OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:KIR2DL3 semapv:UnspecifiedMatching -OMIM:604938 KIR2DL3 skos:exactMatch ncbigene:3804 semapv:UnspecifiedMatching -OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:9042 semapv:UnspecifiedMatching -OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:PLA2R1 semapv:UnspecifiedMatching -OMIM:604939 PLA2R1 skos:exactMatch ncbigene:22925 semapv:UnspecifiedMatching -OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:9304 semapv:UnspecifiedMatching -OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:PPP2R2A semapv:UnspecifiedMatching -OMIM:604941 PPP2R2A skos:exactMatch ncbigene:5520 semapv:UnspecifiedMatching -OMIM:604942 SNPH skos:exactMatch hgnc.symbol:15931 semapv:UnspecifiedMatching -OMIM:604942 SNPH skos:exactMatch hgnc.symbol:SNPH semapv:UnspecifiedMatching -OMIM:604942 SNPH skos:exactMatch ncbigene:9751 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch UMLS:C1822756 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch UMLS:C3151230 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:9359 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:SLC26A5 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch ncbigene:375611 semapv:UnspecifiedMatching -OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:9307 semapv:UnspecifiedMatching -OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:PPP2R3A semapv:UnspecifiedMatching -OMIM:604944 PPP2R3A skos:exactMatch ncbigene:5523 semapv:UnspecifiedMatching -OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:6332 semapv:UnspecifiedMatching -OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:KIR2DL4 semapv:UnspecifiedMatching -OMIM:604945 KIR2DL4 skos:exactMatch ncbigene:3805 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416652 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416654 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C4016912 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:6338 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:KIR3DL1 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch ncbigene:3811 semapv:UnspecifiedMatching -OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:6339 semapv:UnspecifiedMatching -OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:KIR3DL2 semapv:UnspecifiedMatching -OMIM:604947 KIR3DL2 skos:exactMatch ncbigene:3812 semapv:UnspecifiedMatching -OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:4096 semapv:UnspecifiedMatching -OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:GADD45B semapv:UnspecifiedMatching -OMIM:604948 GADD45B skos:exactMatch ncbigene:4616 semapv:UnspecifiedMatching -OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:4097 semapv:UnspecifiedMatching -OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:GADD45G semapv:UnspecifiedMatching -OMIM:604949 GADD45G skos:exactMatch ncbigene:10912 semapv:UnspecifiedMatching -OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:8939 semapv:UnspecifiedMatching -OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:PHTF1 semapv:UnspecifiedMatching -OMIM:604950 PHTF1 skos:exactMatch ncbigene:10745 semapv:UnspecifiedMatching -OMIM:604951 PGLS skos:exactMatch hgnc.symbol:8903 semapv:UnspecifiedMatching -OMIM:604951 PGLS skos:exactMatch hgnc.symbol:PGLS semapv:UnspecifiedMatching -OMIM:604951 PGLS skos:exactMatch ncbigene:25796 semapv:UnspecifiedMatching -OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:6333 semapv:UnspecifiedMatching -OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:KIR2DS1 semapv:UnspecifiedMatching -OMIM:604952 KIR2DS1 skos:exactMatch ncbigene:3806 semapv:UnspecifiedMatching -OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:6334 semapv:UnspecifiedMatching -OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:KIR2DS2 semapv:UnspecifiedMatching -OMIM:604953 KIR2DS2 skos:exactMatch ncbigene:100132285 semapv:UnspecifiedMatching -OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:6335 semapv:UnspecifiedMatching -OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:KIR2DS3 semapv:UnspecifiedMatching -OMIM:604954 KIR2DS3 skos:exactMatch ncbigene:3808 semapv:UnspecifiedMatching -OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:6336 semapv:UnspecifiedMatching -OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:KIR2DS4 semapv:UnspecifiedMatching -OMIM:604955 KIR2DS4 skos:exactMatch ncbigene:3809 semapv:UnspecifiedMatching -OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:6337 semapv:UnspecifiedMatching -OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:KIR2DS5 semapv:UnspecifiedMatching -OMIM:604956 KIR2DS5 skos:exactMatch ncbigene:3810 semapv:UnspecifiedMatching -OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:24124 semapv:UnspecifiedMatching -OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:ACTL6A semapv:UnspecifiedMatching -OMIM:604958 ACTL6A skos:exactMatch ncbigene:86 semapv:UnspecifiedMatching -OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:9108 semapv:UnspecifiedMatching -OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:PMAIP1 semapv:UnspecifiedMatching -OMIM:604959 PMAIP1 skos:exactMatch ncbigene:5366 semapv:UnspecifiedMatching -OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:8571 semapv:UnspecifiedMatching -OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:PACSIN2 semapv:UnspecifiedMatching -OMIM:604960 PACSIN2 skos:exactMatch ncbigene:11252 semapv:UnspecifiedMatching -OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:8773 semapv:UnspecifiedMatching -OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:PDE11A semapv:UnspecifiedMatching -OMIM:604961 PDE11A skos:exactMatch ncbigene:50940 semapv:UnspecifiedMatching -OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:30698 semapv:UnspecifiedMatching -OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:TRAT1 semapv:UnspecifiedMatching -OMIM:604962 TRAT1 skos:exactMatch ncbigene:50852 semapv:UnspecifiedMatching -OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:8904 semapv:UnspecifiedMatching -OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:PGLYRP1 semapv:UnspecifiedMatching -OMIM:604963 PGLYRP1 skos:exactMatch ncbigene:8993 semapv:UnspecifiedMatching -OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:17710 semapv:UnspecifiedMatching -OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:SIT1 semapv:UnspecifiedMatching -OMIM:604964 SIT1 skos:exactMatch ncbigene:27240 semapv:UnspecifiedMatching -OMIM:604965 STK4 skos:exactMatch hgnc.symbol:11408 semapv:UnspecifiedMatching -OMIM:604965 STK4 skos:exactMatch hgnc.symbol:STK4 semapv:UnspecifiedMatching -OMIM:604965 STK4 skos:exactMatch ncbigene:6789 semapv:UnspecifiedMatching -OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:8662 semapv:UnspecifiedMatching -OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:PCDHA@ semapv:UnspecifiedMatching -OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:8679 semapv:UnspecifiedMatching -OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:PCDHB@ semapv:UnspecifiedMatching -OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:8695 semapv:UnspecifiedMatching -OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:PCDHG@ semapv:UnspecifiedMatching -OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:15605 semapv:UnspecifiedMatching -OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:SKAP1 semapv:UnspecifiedMatching -OMIM:604969 SKAP1 skos:exactMatch ncbigene:8631 semapv:UnspecifiedMatching -OMIM:604970 AURKB skos:exactMatch UMLS:C1420464 semapv:UnspecifiedMatching -OMIM:604970 AURKB skos:exactMatch hgnc.symbol:11390 semapv:UnspecifiedMatching -OMIM:604970 AURKB skos:exactMatch hgnc.symbol:AURKB semapv:UnspecifiedMatching -OMIM:604970 AURKB skos:exactMatch ncbigene:9212 semapv:UnspecifiedMatching -OMIM:604971 MDFI skos:exactMatch hgnc.symbol:6967 semapv:UnspecifiedMatching -OMIM:604971 MDFI skos:exactMatch hgnc.symbol:MDFI semapv:UnspecifiedMatching -OMIM:604971 MDFI skos:exactMatch ncbigene:4188 semapv:UnspecifiedMatching -OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:8489 semapv:UnspecifiedMatching -OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:ORC3 semapv:UnspecifiedMatching -OMIM:604972 ORC3 skos:exactMatch ncbigene:23595 semapv:UnspecifiedMatching -OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:3625 semapv:UnspecifiedMatching -OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:FCN3 semapv:UnspecifiedMatching -OMIM:604973 FCN3 skos:exactMatch ncbigene:8547 semapv:UnspecifiedMatching -OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:11197 semapv:UnspecifiedMatching -OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:SOX21 semapv:UnspecifiedMatching -OMIM:604974 SOX21 skos:exactMatch ncbigene:11166 semapv:UnspecifiedMatching -OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:11201 semapv:UnspecifiedMatching -OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:SOX5 semapv:UnspecifiedMatching -OMIM:604975 SOX5 skos:exactMatch ncbigene:6660 semapv:UnspecifiedMatching -OMIM:604976 PRKAG3 skos:exactMatch UMLS:C1418906 semapv:UnspecifiedMatching -OMIM:604976 PRKAG3 skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching -OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:9387 semapv:UnspecifiedMatching -OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:PRKAG3 semapv:UnspecifiedMatching -OMIM:604976 PRKAG3 skos:exactMatch ncbigene:53632 semapv:UnspecifiedMatching -OMIM:604977 STK19 skos:exactMatch hgnc.symbol:11398 semapv:UnspecifiedMatching -OMIM:604977 STK19 skos:exactMatch hgnc.symbol:STK19 semapv:UnspecifiedMatching -OMIM:604977 STK19 skos:exactMatch ncbigene:8859 semapv:UnspecifiedMatching -OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:13870 semapv:UnspecifiedMatching -OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:NUDT21 semapv:UnspecifiedMatching -OMIM:604978 NUDT21 skos:exactMatch ncbigene:11051 semapv:UnspecifiedMatching -OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:13871 semapv:UnspecifiedMatching -OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:CPSF6 semapv:UnspecifiedMatching -OMIM:604979 CPSF6 skos:exactMatch ncbigene:11052 semapv:UnspecifiedMatching -OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:9804 semapv:UnspecifiedMatching -OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:RACGAP1 semapv:UnspecifiedMatching -OMIM:604980 RACGAP1 skos:exactMatch ncbigene:29127 semapv:UnspecifiedMatching -OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:12739 semapv:UnspecifiedMatching -OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:WBP4 semapv:UnspecifiedMatching -OMIM:604981 WBP4 skos:exactMatch ncbigene:11193 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch UMLS:C1415707 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:5163 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:HPS1 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch ncbigene:3257 semapv:UnspecifiedMatching -OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:9180 semapv:UnspecifiedMatching -OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:POLG2 semapv:UnspecifiedMatching -OMIM:604983 POLG2 skos:exactMatch ncbigene:11232 semapv:UnspecifiedMatching -OMIM:604984 STK24 skos:exactMatch hgnc.symbol:11403 semapv:UnspecifiedMatching -OMIM:604984 STK24 skos:exactMatch hgnc.symbol:STK24 semapv:UnspecifiedMatching -OMIM:604984 STK24 skos:exactMatch ncbigene:8428 semapv:UnspecifiedMatching -OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:11276 semapv:UnspecifiedMatching -OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:SPTBN2 semapv:UnspecifiedMatching -OMIM:604985 SPTBN2 skos:exactMatch ncbigene:6712 semapv:UnspecifiedMatching -OMIM:604986 BRAP skos:exactMatch hgnc.symbol:1099 semapv:UnspecifiedMatching -OMIM:604986 BRAP skos:exactMatch hgnc.symbol:BRAP semapv:UnspecifiedMatching -OMIM:604986 BRAP skos:exactMatch ncbigene:8315 semapv:UnspecifiedMatching -OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:2054 semapv:UnspecifiedMatching -OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:CLEC5A semapv:UnspecifiedMatching -OMIM:604987 CLEC5A skos:exactMatch ncbigene:23601 semapv:UnspecifiedMatching -OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:10962 semapv:UnspecifiedMatching -OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:SLCO2B1 semapv:UnspecifiedMatching -OMIM:604988 SLCO2B1 skos:exactMatch ncbigene:11309 semapv:UnspecifiedMatching -OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:11252 semapv:UnspecifiedMatching -OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:SPON1 semapv:UnspecifiedMatching -OMIM:604989 SPON1 skos:exactMatch ncbigene:10418 semapv:UnspecifiedMatching -OMIM:604990 SLC9A3R1 skos:exactMatch hgnc.symbol:NHERF1 semapv:UnspecifiedMatching -OMIM:604990 SLC9A3R1 skos:exactMatch ncbigene:9368 semapv:UnspecifiedMatching -OMIM:604991 PART1 skos:exactMatch hgnc.symbol:17263 semapv:UnspecifiedMatching -OMIM:604991 PART1 skos:exactMatch hgnc.symbol:PART1 semapv:UnspecifiedMatching -OMIM:604991 PART1 skos:exactMatch ncbigene:25859 semapv:UnspecifiedMatching -OMIM:604992 SRL skos:exactMatch hgnc.symbol:11295 semapv:UnspecifiedMatching -OMIM:604992 SRL skos:exactMatch hgnc.symbol:SRL semapv:UnspecifiedMatching -OMIM:604992 SRL skos:exactMatch ncbigene:6345 semapv:UnspecifiedMatching -OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:17351 semapv:UnspecifiedMatching -OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:PRPF18 semapv:UnspecifiedMatching -OMIM:604993 PRPF18 skos:exactMatch ncbigene:8559 semapv:UnspecifiedMatching -OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:10888 semapv:UnspecifiedMatching -OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:SIX2 semapv:UnspecifiedMatching -OMIM:604994 SIX2 skos:exactMatch ncbigene:10736 semapv:UnspecifiedMatching -OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:10971 semapv:UnspecifiedMatching -OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:SLC22A7 semapv:UnspecifiedMatching -OMIM:604995 SLC22A7 skos:exactMatch ncbigene:10864 semapv:UnspecifiedMatching -OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:4027 semapv:UnspecifiedMatching -OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:FXYD3 semapv:UnspecifiedMatching -OMIM:604996 FXYD3 skos:exactMatch ncbigene:5349 semapv:UnspecifiedMatching -OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:2991 semapv:UnspecifiedMatching -OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:DOK2 semapv:UnspecifiedMatching -OMIM:604997 DOK2 skos:exactMatch ncbigene:9046 semapv:UnspecifiedMatching -OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:1459 semapv:UnspecifiedMatching -OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:CAMK1 semapv:UnspecifiedMatching -OMIM:604998 CAMK1 skos:exactMatch ncbigene:8536 semapv:UnspecifiedMatching -OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:15474 semapv:UnspecifiedMatching -OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:SHANK1 semapv:UnspecifiedMatching -OMIM:604999 SHANK1 skos:exactMatch ncbigene:50944 semapv:UnspecifiedMatching -OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:2252 semapv:UnspecifiedMatching -OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:CORO1A semapv:UnspecifiedMatching -OMIM:605000 CORO1A skos:exactMatch ncbigene:11151 semapv:UnspecifiedMatching -OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:490 semapv:UnspecifiedMatching -OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:ANGPTL2 semapv:UnspecifiedMatching -OMIM:605001 ANGPTL2 skos:exactMatch ncbigene:23452 semapv:UnspecifiedMatching -OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:2256 semapv:UnspecifiedMatching -OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:CORO2B semapv:UnspecifiedMatching -OMIM:605002 CORO2B skos:exactMatch ncbigene:10391 semapv:UnspecifiedMatching -OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:20944 semapv:UnspecifiedMatching -OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:SENP6 semapv:UnspecifiedMatching -OMIM:605003 SENP6 skos:exactMatch ncbigene:26054 semapv:UnspecifiedMatching -OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:4617 semapv:UnspecifiedMatching -OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:GSK3B semapv:UnspecifiedMatching -OMIM:605004 GSK3B skos:exactMatch ncbigene:2932 semapv:UnspecifiedMatching -OMIM:605005 GALNT7 skos:exactMatch UMLS:C1414957 semapv:UnspecifiedMatching -OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:4129 semapv:UnspecifiedMatching -OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:GALNT7 semapv:UnspecifiedMatching -OMIM:605005 GALNT7 skos:exactMatch ncbigene:51809 semapv:UnspecifiedMatching -OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:16048 semapv:UnspecifiedMatching -OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:FRAT2 semapv:UnspecifiedMatching -OMIM:605006 FRAT2 skos:exactMatch ncbigene:23401 semapv:UnspecifiedMatching -OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:221 semapv:UnspecifiedMatching -OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:ADAMTS5 semapv:UnspecifiedMatching -OMIM:605007 ADAMTS5 skos:exactMatch ncbigene:11096 semapv:UnspecifiedMatching -OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:222 semapv:UnspecifiedMatching -OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:ADAMTS6 semapv:UnspecifiedMatching -OMIM:605008 ADAMTS6 skos:exactMatch ncbigene:11174 semapv:UnspecifiedMatching -OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:223 semapv:UnspecifiedMatching -OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:ADAMTS7 semapv:UnspecifiedMatching -OMIM:605009 ADAMTS7 skos:exactMatch ncbigene:11173 semapv:UnspecifiedMatching -OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:15464 semapv:UnspecifiedMatching -OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:SPINK5 semapv:UnspecifiedMatching -OMIM:605010 SPINK5 skos:exactMatch ncbigene:11005 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C1412209 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C4748408 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:219 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:ADAMTS3 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch ncbigene:9508 semapv:UnspecifiedMatching -OMIM:605012 SUPT16H skos:exactMatch UMLS:C1420522 semapv:UnspecifiedMatching -OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:11465 semapv:UnspecifiedMatching -OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:SUPT16H semapv:UnspecifiedMatching -OMIM:605012 SUPT16H skos:exactMatch ncbigene:11198 semapv:UnspecifiedMatching -OMIM:605014 STX11 skos:exactMatch hgnc.symbol:11429 semapv:UnspecifiedMatching -OMIM:605014 STX11 skos:exactMatch hgnc.symbol:STX11 semapv:UnspecifiedMatching -OMIM:605014 STX11 skos:exactMatch ncbigene:8676 semapv:UnspecifiedMatching -OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:13006 semapv:UnspecifiedMatching -OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:ZNF214 semapv:UnspecifiedMatching -OMIM:605015 ZNF214 skos:exactMatch ncbigene:7761 semapv:UnspecifiedMatching -OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:13007 semapv:UnspecifiedMatching -OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:ZNF215 semapv:UnspecifiedMatching -OMIM:605016 ZNF215 skos:exactMatch ncbigene:7762 semapv:UnspecifiedMatching -OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:12710 semapv:UnspecifiedMatching -OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:VPREB3 semapv:UnspecifiedMatching -OMIM:605017 VPREB3 skos:exactMatch ncbigene:29802 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1413850 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1851526 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C1857941 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch UMLS:C5436881 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch hgnc.symbol:2584 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch hgnc.symbol:CYLD semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch ncbigene:1540 semapv:UnspecifiedMatching -OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:12723 semapv:UnspecifiedMatching -OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:VSX1 semapv:UnspecifiedMatching -OMIM:605020 VSX1 skos:exactMatch ncbigene:30813 semapv:UnspecifiedMatching -OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch Orphanet:352582 semapv:UnspecifiedMatching -OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching -OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:8591 semapv:UnspecifiedMatching -OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:PAK2 semapv:UnspecifiedMatching -OMIM:605022 PAK2 skos:exactMatch ncbigene:5062 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch UMLS:C1415468 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:4809 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:HAO1 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch ncbigene:54363 semapv:UnspecifiedMatching -OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:11034 semapv:UnspecifiedMatching -OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:SLC4A8 semapv:UnspecifiedMatching -OMIM:605024 SLC4A8 skos:exactMatch ncbigene:9498 semapv:UnspecifiedMatching -OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:6139 semapv:UnspecifiedMatching -OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:ITGA3 semapv:UnspecifiedMatching -OMIM:605025 ITGA3 skos:exactMatch ncbigene:3675 semapv:UnspecifiedMatching -OMIM:605029 KLRF1 skos:exactMatch UMLS:C1421942 semapv:UnspecifiedMatching -OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:13342 semapv:UnspecifiedMatching -OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:KLRF1 semapv:UnspecifiedMatching -OMIM:605029 KLRF1 skos:exactMatch ncbigene:51348 semapv:UnspecifiedMatching -OMIM:605030 STK3 skos:exactMatch hgnc.symbol:11406 semapv:UnspecifiedMatching -OMIM:605030 STK3 skos:exactMatch hgnc.symbol:STK3 semapv:UnspecifiedMatching -OMIM:605030 STK3 skos:exactMatch ncbigene:6788 semapv:UnspecifiedMatching -OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:11397 semapv:UnspecifiedMatching -OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:PLK4 semapv:UnspecifiedMatching -OMIM:605031 PLK4 skos:exactMatch ncbigene:10733 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch UMLS:C1413670 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:2309 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:CPLX1 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch ncbigene:10815 semapv:UnspecifiedMatching -OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:2310 semapv:UnspecifiedMatching -OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:CPLX2 semapv:UnspecifiedMatching -OMIM:605033 CPLX2 skos:exactMatch ncbigene:10814 semapv:UnspecifiedMatching -OMIM:605034 TIMM23 skos:exactMatch UMLS:C1424893 semapv:UnspecifiedMatching -OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:17312 semapv:UnspecifiedMatching -OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:TIMM23 semapv:UnspecifiedMatching -OMIM:605034 TIMM23 skos:exactMatch ncbigene:100287932 semapv:UnspecifiedMatching -OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:12732 semapv:UnspecifiedMatching -OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:WASF1 semapv:UnspecifiedMatching -OMIM:605035 WASF1 skos:exactMatch ncbigene:8936 semapv:UnspecifiedMatching -OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:13011 semapv:UnspecifiedMatching -OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:ZNF219 semapv:UnspecifiedMatching -OMIM:605036 ZNF219 skos:exactMatch ncbigene:51222 semapv:UnspecifiedMatching -OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:19167 semapv:UnspecifiedMatching -OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:KIF17 semapv:UnspecifiedMatching -OMIM:605037 KIF17 skos:exactMatch ncbigene:57576 semapv:UnspecifiedMatching -OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:9123 semapv:UnspecifiedMatching -OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:PMS2P1 semapv:UnspecifiedMatching -OMIM:605038 PMS2L1 skos:exactMatch ncbigene:5379 semapv:UnspecifiedMatching -OMIM:605039 bohring-opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching -OMIM:605039 bohring-opitz syndrome skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching -OMIM:605042 MED23 skos:exactMatch hgnc.symbol:2372 semapv:UnspecifiedMatching -OMIM:605042 MED23 skos:exactMatch hgnc.symbol:MED23 semapv:UnspecifiedMatching -OMIM:605042 MED23 skos:exactMatch ncbigene:9439 semapv:UnspecifiedMatching -OMIM:605043 MED26 skos:exactMatch hgnc.symbol:2376 semapv:UnspecifiedMatching -OMIM:605043 MED26 skos:exactMatch hgnc.symbol:MED26 semapv:UnspecifiedMatching -OMIM:605043 MED26 skos:exactMatch ncbigene:9441 semapv:UnspecifiedMatching -OMIM:605044 MED27 skos:exactMatch hgnc.symbol:2377 semapv:UnspecifiedMatching -OMIM:605044 MED27 skos:exactMatch hgnc.symbol:MED27 semapv:UnspecifiedMatching -OMIM:605044 MED27 skos:exactMatch ncbigene:9442 semapv:UnspecifiedMatching -OMIM:605045 MED7 skos:exactMatch hgnc.symbol:2378 semapv:UnspecifiedMatching -OMIM:605045 MED7 skos:exactMatch hgnc.symbol:MED7 semapv:UnspecifiedMatching -OMIM:605045 MED7 skos:exactMatch ncbigene:9443 semapv:UnspecifiedMatching -OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:12508 semapv:UnspecifiedMatching -OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:UBQLN1 semapv:UnspecifiedMatching -OMIM:605046 UBQLN1 skos:exactMatch ncbigene:29979 semapv:UnspecifiedMatching -OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:6122 semapv:UnspecifiedMatching -OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:IRF7 semapv:UnspecifiedMatching -OMIM:605047 IRF7 skos:exactMatch ncbigene:3665 semapv:UnspecifiedMatching -OMIM:605048 IKBKE skos:exactMatch UMLS:C1422750 semapv:UnspecifiedMatching -OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:14552 semapv:UnspecifiedMatching -OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:IKBKE semapv:UnspecifiedMatching -OMIM:605048 IKBKE skos:exactMatch ncbigene:9641 semapv:UnspecifiedMatching -OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:12429 semapv:UnspecifiedMatching -OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:TWSG1 semapv:UnspecifiedMatching -OMIM:605049 TWSG1 skos:exactMatch ncbigene:57045 semapv:UnspecifiedMatching -OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:2160 semapv:UnspecifiedMatching -OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:CNR2 semapv:UnspecifiedMatching -OMIM:605051 CNR2 skos:exactMatch ncbigene:1269 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch UMLS:C1420585 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:11568 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:TARBP1 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch ncbigene:6894 semapv:UnspecifiedMatching -OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:11569 semapv:UnspecifiedMatching -OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:TARBP2 semapv:UnspecifiedMatching -OMIM:605053 TARBP2 skos:exactMatch ncbigene:6895 semapv:UnspecifiedMatching -OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:10757 semapv:UnspecifiedMatching -OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:SERF2 semapv:UnspecifiedMatching -OMIM:605054 SERF2 skos:exactMatch ncbigene:10169 semapv:UnspecifiedMatching -OMIM:605056 WASL skos:exactMatch hgnc.symbol:12735 semapv:UnspecifiedMatching -OMIM:605056 WASL skos:exactMatch hgnc.symbol:WASL semapv:UnspecifiedMatching -OMIM:605056 WASL skos:exactMatch ncbigene:8976 semapv:UnspecifiedMatching -OMIM:605057 TIMM17A skos:exactMatch UMLS:C1424895 semapv:UnspecifiedMatching -OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:17315 semapv:UnspecifiedMatching -OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:TIMM17A semapv:UnspecifiedMatching -OMIM:605057 TIMM17A skos:exactMatch ncbigene:10440 semapv:UnspecifiedMatching -OMIM:605058 TIMM44 skos:exactMatch UMLS:C1424896 semapv:UnspecifiedMatching -OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:17316 semapv:UnspecifiedMatching -OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:TIMM44 semapv:UnspecifiedMatching -OMIM:605058 TIMM44 skos:exactMatch ncbigene:10469 semapv:UnspecifiedMatching -OMIM:605060 SHPK skos:exactMatch hgnc.symbol:1492 semapv:UnspecifiedMatching -OMIM:605060 SHPK skos:exactMatch hgnc.symbol:SHPK semapv:UnspecifiedMatching -OMIM:605060 SHPK skos:exactMatch ncbigene:23729 semapv:UnspecifiedMatching -OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:19246 semapv:UnspecifiedMatching -OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:TERF2IP semapv:UnspecifiedMatching -OMIM:605061 TERF2IP skos:exactMatch ncbigene:54386 semapv:UnspecifiedMatching -OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:14912 semapv:UnspecifiedMatching -OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:TAS2R5 semapv:UnspecifiedMatching -OMIM:605062 TAS2R5 skos:exactMatch ncbigene:54429 semapv:UnspecifiedMatching -OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:11387 semapv:UnspecifiedMatching -OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:STIP1 semapv:UnspecifiedMatching -OMIM:605063 STIP1 skos:exactMatch ncbigene:10963 semapv:UnspecifiedMatching -OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:6392 semapv:UnspecifiedMatching -OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:KIF23 semapv:UnspecifiedMatching -OMIM:605064 KIF23 skos:exactMatch ncbigene:9493 semapv:UnspecifiedMatching -OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:1735 semapv:UnspecifiedMatching -OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:CDC37 semapv:UnspecifiedMatching -OMIM:605065 CDC37 skos:exactMatch ncbigene:11140 semapv:UnspecifiedMatching -OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:12851 semapv:UnspecifiedMatching -OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:YWHAE semapv:UnspecifiedMatching -OMIM:605066 YWHAE skos:exactMatch ncbigene:7531 semapv:UnspecifiedMatching -OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:12734 semapv:UnspecifiedMatching -OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:WASF3 semapv:UnspecifiedMatching -OMIM:605068 WASF3 skos:exactMatch ncbigene:10810 semapv:UnspecifiedMatching -OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:7111 semapv:UnspecifiedMatching -OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:MKNK2 semapv:UnspecifiedMatching -OMIM:605069 MKNK2 skos:exactMatch ncbigene:2872 semapv:UnspecifiedMatching -OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:3185 semapv:UnspecifiedMatching -OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:EEA1 semapv:UnspecifiedMatching -OMIM:605070 EEA1 skos:exactMatch ncbigene:8411 semapv:UnspecifiedMatching -OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:13735 semapv:UnspecifiedMatching -OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:RGS19 semapv:UnspecifiedMatching -OMIM:605071 RGS19 skos:exactMatch ncbigene:10287 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch UMLS:C1825351 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:1226 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:GIPC1 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch ncbigene:10755 semapv:UnspecifiedMatching -OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:7523 semapv:UnspecifiedMatching -OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:TRIM37 semapv:UnspecifiedMatching -OMIM:605073 TRIM37 skos:exactMatch ncbigene:4591 semapv:UnspecifiedMatching -OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:11135 semapv:UnspecifiedMatching -OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:SNAPC2 semapv:UnspecifiedMatching -OMIM:605076 SNAPC2 skos:exactMatch ncbigene:6618 semapv:UnspecifiedMatching -OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:18291 semapv:UnspecifiedMatching -OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:DMAP1 semapv:UnspecifiedMatching -OMIM:605077 DNMAP1 skos:exactMatch ncbigene:55929 semapv:UnspecifiedMatching -OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:11571 semapv:UnspecifiedMatching -OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:TARDBP semapv:UnspecifiedMatching -OMIM:605078 TARDBP skos:exactMatch ncbigene:23435 semapv:UnspecifiedMatching -OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:10527 semapv:UnspecifiedMatching -OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:SALL3 semapv:UnspecifiedMatching -OMIM:605079 SALL3 skos:exactMatch ncbigene:27164 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch UMLS:C1413548 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch UMLS:C1849792 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:2153 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:CNGB3 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch ncbigene:54714 semapv:UnspecifiedMatching -OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:9504 semapv:UnspecifiedMatching -OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:CYTH3 semapv:UnspecifiedMatching -OMIM:605081 CYTH3 skos:exactMatch ncbigene:9265 semapv:UnspecifiedMatching -OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:9882 semapv:UnspecifiedMatching -OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:RASSF1 semapv:UnspecifiedMatching -OMIM:605082 RASSF1 skos:exactMatch ncbigene:11186 semapv:UnspecifiedMatching -OMIM:605083 FRZB skos:exactMatch hgnc.symbol:3959 semapv:UnspecifiedMatching -OMIM:605083 FRZB skos:exactMatch hgnc.symbol:FRZB semapv:UnspecifiedMatching -OMIM:605083 FRZB skos:exactMatch ncbigene:2487 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch UMLS:C1413147 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:1530 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:MICU1 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch ncbigene:10367 semapv:UnspecifiedMatching -OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:17760 semapv:UnspecifiedMatching -OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:TREM1 semapv:UnspecifiedMatching -OMIM:605085 TREM1 skos:exactMatch ncbigene:54210 semapv:UnspecifiedMatching -OMIM:605086 TREM2 skos:exactMatch UMLS:C1425067 semapv:UnspecifiedMatching -OMIM:605086 TREM2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching -OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:17761 semapv:UnspecifiedMatching -OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:TREM2 semapv:UnspecifiedMatching -OMIM:605086 TREM2 skos:exactMatch ncbigene:54209 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch UMLS:C1418566 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch UMLS:C5394575 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch UMLS:C5394576 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch hgnc.symbol:8965 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch hgnc.symbol:PIGK semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch ncbigene:10026 semapv:UnspecifiedMatching -OMIM:605088 MVP skos:exactMatch hgnc.symbol:7531 semapv:UnspecifiedMatching -OMIM:605088 MVP skos:exactMatch hgnc.symbol:MVP semapv:UnspecifiedMatching -OMIM:605088 MVP skos:exactMatch ncbigene:9961 semapv:UnspecifiedMatching -OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:14491 semapv:UnspecifiedMatching -OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:MRPL40 semapv:UnspecifiedMatching -OMIM:605089 MRPL40 skos:exactMatch ncbigene:64976 semapv:UnspecifiedMatching -OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:9867 semapv:UnspecifiedMatching -OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:RARRES1 semapv:UnspecifiedMatching -OMIM:605090 RARRES1 skos:exactMatch ncbigene:5918 semapv:UnspecifiedMatching -OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:3664 semapv:UnspecifiedMatching -OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:FGD2 semapv:UnspecifiedMatching -OMIM:605091 FGD2 skos:exactMatch ncbigene:221472 semapv:UnspecifiedMatching -OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:9869 semapv:UnspecifiedMatching -OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:PLAAT4 semapv:UnspecifiedMatching -OMIM:605092 PLAAT4 skos:exactMatch ncbigene:5920 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch UMLS:C1822705 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch UMLS:C3805370 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:29605 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:SH2B3 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch ncbigene:10019 semapv:UnspecifiedMatching -OMIM:605094 STEAP2 skos:exactMatch hgnc.symbol:17885 semapv:UnspecifiedMatching -OMIM:605094 STEAP2 skos:exactMatch hgnc.symbol:STEAP2 semapv:UnspecifiedMatching -OMIM:605094 STEAP2 skos:exactMatch ncbigene:261729 semapv:UnspecifiedMatching -OMIM:605096 ANO7 skos:exactMatch hgnc.symbol:31677 semapv:UnspecifiedMatching -OMIM:605096 ANO7 skos:exactMatch hgnc.symbol:ANO7 semapv:UnspecifiedMatching -OMIM:605096 ANO7 skos:exactMatch ncbigene:50636 semapv:UnspecifiedMatching -OMIM:605097 SLC45A3 skos:exactMatch UMLS:C1822765 semapv:UnspecifiedMatching -OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:8642 semapv:UnspecifiedMatching -OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:SLC45A3 semapv:UnspecifiedMatching -OMIM:605097 SLC45A3 skos:exactMatch ncbigene:85414 semapv:UnspecifiedMatching -OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:9277 semapv:UnspecifiedMatching -OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:PPM1D semapv:UnspecifiedMatching -OMIM:605100 PPM1D skos:exactMatch ncbigene:8493 semapv:UnspecifiedMatching -OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:17075 semapv:UnspecifiedMatching -OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:TAB2 semapv:UnspecifiedMatching -OMIM:605101 TAB2 skos:exactMatch ncbigene:23118 semapv:UnspecifiedMatching -OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:6902 semapv:UnspecifiedMatching -OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:MASP2 semapv:UnspecifiedMatching -OMIM:605102 MASP2 skos:exactMatch ncbigene:10747 semapv:UnspecifiedMatching -OMIM:605103 NMU skos:exactMatch hgnc.symbol:7859 semapv:UnspecifiedMatching -OMIM:605103 NMU skos:exactMatch hgnc.symbol:NMU semapv:UnspecifiedMatching -OMIM:605103 NMU skos:exactMatch ncbigene:10874 semapv:UnspecifiedMatching -OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:18222 semapv:UnspecifiedMatching -OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:RBFOX1 semapv:UnspecifiedMatching -OMIM:605104 RBFOX1 skos:exactMatch ncbigene:54715 semapv:UnspecifiedMatching -OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:14298 semapv:UnspecifiedMatching -OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:LPAR3 semapv:UnspecifiedMatching -OMIM:605106 LPAR3 skos:exactMatch ncbigene:23566 semapv:UnspecifiedMatching -OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:3164 semapv:UnspecifiedMatching -OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:EDF1 semapv:UnspecifiedMatching -OMIM:605107 EDF1 skos:exactMatch ncbigene:8721 semapv:UnspecifiedMatching -OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:16454 semapv:UnspecifiedMatching -OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:NMUR2 semapv:UnspecifiedMatching -OMIM:605108 NMUR2 skos:exactMatch ncbigene:56923 semapv:UnspecifiedMatching -OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:4867 semapv:UnspecifiedMatching -OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:HERC1 semapv:UnspecifiedMatching -OMIM:605109 HERC1 skos:exactMatch ncbigene:8925 semapv:UnspecifiedMatching -OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:3168 semapv:UnspecifiedMatching -OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:LPAR2 semapv:UnspecifiedMatching -OMIM:605110 LPAR2 skos:exactMatch ncbigene:9170 semapv:UnspecifiedMatching -OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:3169 semapv:UnspecifiedMatching -OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:S1PR2 semapv:UnspecifiedMatching -OMIM:605111 S1PR2 skos:exactMatch ncbigene:9294 semapv:UnspecifiedMatching -OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:11873 semapv:UnspecifiedMatching -OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:TMOD3 semapv:UnspecifiedMatching -OMIM:605112 TMOD3 skos:exactMatch ncbigene:29766 semapv:UnspecifiedMatching -OMIM:605113 AASS skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching -OMIM:605113 AASS skos:exactMatch UMLS:C1424938 semapv:UnspecifiedMatching -OMIM:605113 AASS skos:exactMatch hgnc.symbol:17366 semapv:UnspecifiedMatching -OMIM:605113 AASS skos:exactMatch hgnc.symbol:AASS semapv:UnspecifiedMatching -OMIM:605113 AASS skos:exactMatch ncbigene:10157 semapv:UnspecifiedMatching -OMIM:605114 SPO11 skos:exactMatch UMLS:C1335860 semapv:UnspecifiedMatching -OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:11250 semapv:UnspecifiedMatching -OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:SPO11 semapv:UnspecifiedMatching -OMIM:605114 SPO11 skos:exactMatch ncbigene:23626 semapv:UnspecifiedMatching -OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:14079 semapv:UnspecifiedMatching -OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:CHRNA9 semapv:UnspecifiedMatching -OMIM:605116 CHRNA9 skos:exactMatch ncbigene:55584 semapv:UnspecifiedMatching -OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:19382 semapv:UnspecifiedMatching -OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:SOCS2 semapv:UnspecifiedMatching -OMIM:605117 SOCS2 skos:exactMatch ncbigene:8835 semapv:UnspecifiedMatching -OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:16833 semapv:UnspecifiedMatching -OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:SOCS6 semapv:UnspecifiedMatching -OMIM:605118 SOCS6 skos:exactMatch ncbigene:9306 semapv:UnspecifiedMatching -OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:9278 semapv:UnspecifiedMatching -OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:PPM1G semapv:UnspecifiedMatching -OMIM:605119 PPM1G skos:exactMatch ncbigene:5496 semapv:UnspecifiedMatching -OMIM:605120 GDF2 skos:exactMatch hgnc.symbol:4217 semapv:UnspecifiedMatching -OMIM:605120 GDF2 skos:exactMatch hgnc.symbol:GDF2 semapv:UnspecifiedMatching -OMIM:605120 GDF2 skos:exactMatch ncbigene:2658 semapv:UnspecifiedMatching -OMIM:605121 RRN3 skos:exactMatch hgnc.symbol:30346 semapv:UnspecifiedMatching -OMIM:605121 RRN3 skos:exactMatch hgnc.symbol:RRN3 semapv:UnspecifiedMatching -OMIM:605121 RRN3 skos:exactMatch ncbigene:54700 semapv:UnspecifiedMatching -OMIM:605122 SUPV3L1 skos:exactMatch hgnc.symbol:11471 semapv:UnspecifiedMatching -OMIM:605122 SUPV3L1 skos:exactMatch hgnc.symbol:SUPV3L1 semapv:UnspecifiedMatching -OMIM:605122 SUPV3L1 skos:exactMatch ncbigene:6832 semapv:UnspecifiedMatching -OMIM:605123 SPINT1 skos:exactMatch hgnc.symbol:11246 semapv:UnspecifiedMatching -OMIM:605123 SPINT1 skos:exactMatch hgnc.symbol:SPINT1 semapv:UnspecifiedMatching -OMIM:605123 SPINT1 skos:exactMatch ncbigene:6692 semapv:UnspecifiedMatching -OMIM:605124 SPINT2 skos:exactMatch hgnc.symbol:11247 semapv:UnspecifiedMatching -OMIM:605124 SPINT2 skos:exactMatch hgnc.symbol:SPINT2 semapv:UnspecifiedMatching -OMIM:605124 SPINT2 skos:exactMatch ncbigene:10653 semapv:UnspecifiedMatching -OMIM:605125 GABARAP skos:exactMatch hgnc.symbol:4067 semapv:UnspecifiedMatching -OMIM:605125 GABARAP skos:exactMatch hgnc.symbol:GABARAP semapv:UnspecifiedMatching -OMIM:605125 GABARAP skos:exactMatch ncbigene:11337 semapv:UnspecifiedMatching -OMIM:605126 FHL5 skos:exactMatch hgnc.symbol:17371 semapv:UnspecifiedMatching -OMIM:605126 FHL5 skos:exactMatch hgnc.symbol:FHL5 semapv:UnspecifiedMatching -OMIM:605126 FHL5 skos:exactMatch ncbigene:9457 semapv:UnspecifiedMatching -OMIM:605127 OPTC skos:exactMatch hgnc.symbol:8158 semapv:UnspecifiedMatching -OMIM:605127 OPTC skos:exactMatch hgnc.symbol:OPTC semapv:UnspecifiedMatching -OMIM:605127 OPTC skos:exactMatch ncbigene:26254 semapv:UnspecifiedMatching -OMIM:605128 GUCA1C skos:exactMatch hgnc.symbol:4680 semapv:UnspecifiedMatching -OMIM:605128 GUCA1C skos:exactMatch hgnc.symbol:GUCA1C semapv:UnspecifiedMatching -OMIM:605128 GUCA1C skos:exactMatch ncbigene:9626 semapv:UnspecifiedMatching -OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:9570 semapv:UnspecifiedMatching -OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:PSME3 semapv:UnspecifiedMatching -OMIM:605129 PSME3 skos:exactMatch ncbigene:10197 semapv:UnspecifiedMatching -OMIM:605130 wiedemann-steiner syndrome skos:exactMatch Orphanet:319182 semapv:UnspecifiedMatching -OMIM:605130 wiedemann-steiner syndrome skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch UMLS:C1414724 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch UMLS:C1421525 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch UMLS:C4016881 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch hgnc.symbol:12799 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch hgnc.symbol:WWOX semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch ncbigene:51741 semapv:UnspecifiedMatching -OMIM:605132 TLE4 skos:exactMatch UMLS:C1420755 semapv:UnspecifiedMatching -OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:11840 semapv:UnspecifiedMatching -OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:TLE4 semapv:UnspecifiedMatching -OMIM:605132 TLE4 skos:exactMatch ncbigene:7091 semapv:UnspecifiedMatching -OMIM:605133 NCBP2 skos:exactMatch hgnc.symbol:7659 semapv:UnspecifiedMatching -OMIM:605133 NCBP2 skos:exactMatch hgnc.symbol:NCBP2 semapv:UnspecifiedMatching -OMIM:605133 NCBP2 skos:exactMatch ncbigene:22916 semapv:UnspecifiedMatching -OMIM:605134 PITPNC1 skos:exactMatch hgnc.symbol:21045 semapv:UnspecifiedMatching -OMIM:605134 PITPNC1 skos:exactMatch hgnc.symbol:PITPNC1 semapv:UnspecifiedMatching -OMIM:605134 PITPNC1 skos:exactMatch ncbigene:26207 semapv:UnspecifiedMatching -OMIM:605138 OAZ3 skos:exactMatch hgnc.symbol:8097 semapv:UnspecifiedMatching -OMIM:605138 OAZ3 skos:exactMatch hgnc.symbol:OAZ3 semapv:UnspecifiedMatching -OMIM:605138 OAZ3 skos:exactMatch ncbigene:51686 semapv:UnspecifiedMatching -OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:1615 semapv:UnspecifiedMatching -OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:CCT2 semapv:UnspecifiedMatching -OMIM:605139 CCT2 skos:exactMatch ncbigene:10576 semapv:UnspecifiedMatching -OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:1622 semapv:UnspecifiedMatching -OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:CCT7 semapv:UnspecifiedMatching -OMIM:605140 CCT7 skos:exactMatch ncbigene:10574 semapv:UnspecifiedMatching -OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:12709 semapv:UnspecifiedMatching -OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:VPREB1 semapv:UnspecifiedMatching -OMIM:605141 VPREB1 skos:exactMatch ncbigene:7441 semapv:UnspecifiedMatching -OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:1617 semapv:UnspecifiedMatching -OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:CCT4 semapv:UnspecifiedMatching -OMIM:605142 CCT4 skos:exactMatch ncbigene:10575 semapv:UnspecifiedMatching -OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:167 semapv:UnspecifiedMatching -OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:ACTR1A semapv:UnspecifiedMatching -OMIM:605143 ACTR1A skos:exactMatch ncbigene:10121 semapv:UnspecifiedMatching -OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:168 semapv:UnspecifiedMatching -OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:ACTR1B semapv:UnspecifiedMatching -OMIM:605144 ACTR1B skos:exactMatch ncbigene:10120 semapv:UnspecifiedMatching -OMIM:605145 ANKH skos:exactMatch hgnc.symbol:15492 semapv:UnspecifiedMatching -OMIM:605145 ANKH skos:exactMatch hgnc.symbol:ANKH semapv:UnspecifiedMatching -OMIM:605145 ANKH skos:exactMatch ncbigene:56172 semapv:UnspecifiedMatching -OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:14299 semapv:UnspecifiedMatching -OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:S1PR5 semapv:UnspecifiedMatching -OMIM:605146 S1PR5 skos:exactMatch ncbigene:53637 semapv:UnspecifiedMatching -OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:17005 semapv:UnspecifiedMatching -OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:CNMD semapv:UnspecifiedMatching -OMIM:605147 LECT1 skos:exactMatch ncbigene:11061 semapv:UnspecifiedMatching -OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:4128 semapv:UnspecifiedMatching -OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:GALNT6 semapv:UnspecifiedMatching -OMIM:605148 GALNT6 skos:exactMatch ncbigene:11226 semapv:UnspecifiedMatching -OMIM:605149 CXCL13 skos:exactMatch UMLS:C1366572 semapv:UnspecifiedMatching -OMIM:605149 CXCL13 skos:exactMatch hgnc.symbol:10639 semapv:UnspecifiedMatching -OMIM:605149 CXCL13 skos:exactMatch hgnc.symbol:CXCL13 semapv:UnspecifiedMatching -OMIM:605149 CXCL13 skos:exactMatch ncbigene:10563 semapv:UnspecifiedMatching -OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:17229 semapv:UnspecifiedMatching -OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:CFAP45 semapv:UnspecifiedMatching -OMIM:605152 CFAP45 skos:exactMatch ncbigene:25790 semapv:UnspecifiedMatching -OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:9843 semapv:UnspecifiedMatching -OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:RAMP1 semapv:UnspecifiedMatching -OMIM:605153 RAMP1 skos:exactMatch ncbigene:10267 semapv:UnspecifiedMatching -OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:9844 semapv:UnspecifiedMatching -OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:RAMP2 semapv:UnspecifiedMatching -OMIM:605154 RAMP2 skos:exactMatch ncbigene:10266 semapv:UnspecifiedMatching -OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:9845 semapv:UnspecifiedMatching -OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:RAMP3 semapv:UnspecifiedMatching -OMIM:605155 RAMP3 skos:exactMatch ncbigene:10268 semapv:UnspecifiedMatching -OMIM:605157 p53-responsive gene 1 skos:exactMatch ncbigene:23574 semapv:UnspecifiedMatching -OMIM:605158 PXDN skos:exactMatch hgnc.symbol:14966 semapv:UnspecifiedMatching -OMIM:605158 PXDN skos:exactMatch hgnc.symbol:PXDN semapv:UnspecifiedMatching -OMIM:605158 PXDN skos:exactMatch ncbigene:7837 semapv:UnspecifiedMatching -OMIM:605159 AIFM2 skos:exactMatch UMLS:C1826619 semapv:UnspecifiedMatching -OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:21411 semapv:UnspecifiedMatching -OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:AIFM2 semapv:UnspecifiedMatching -OMIM:605159 AIFM2 skos:exactMatch ncbigene:84883 semapv:UnspecifiedMatching -OMIM:605160 p53-responsive gene 4 skos:exactMatch ncbigene:284124 semapv:UnspecifiedMatching -OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:20477 semapv:UnspecifiedMatching -OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:WFDC5 semapv:UnspecifiedMatching -OMIM:605161 WFDC5 skos:exactMatch ncbigene:149708 semapv:UnspecifiedMatching -OMIM:605162 GADD45GIP1 skos:exactMatch hgnc.symbol:29996 semapv:UnspecifiedMatching -OMIM:605162 GADD45GIP1 skos:exactMatch hgnc.symbol:GADD45GIP1 semapv:UnspecifiedMatching -OMIM:605162 GADD45GIP1 skos:exactMatch ncbigene:90480 semapv:UnspecifiedMatching -OMIM:605163 CXCR6 skos:exactMatch hgnc.symbol:16647 semapv:UnspecifiedMatching -OMIM:605163 CXCR6 skos:exactMatch hgnc.symbol:CXCR6 semapv:UnspecifiedMatching -OMIM:605163 CXCR6 skos:exactMatch ncbigene:10663 semapv:UnspecifiedMatching -OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:4853 semapv:UnspecifiedMatching -OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:HDAC2 semapv:UnspecifiedMatching -OMIM:605164 HDAC2 skos:exactMatch ncbigene:3066 semapv:UnspecifiedMatching -OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:13071 semapv:UnspecifiedMatching -OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:PATZ1 semapv:UnspecifiedMatching -OMIM:605165 ZNF278 skos:exactMatch ncbigene:23598 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch UMLS:C1366355 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:4854 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:HDAC3 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch ncbigene:8841 semapv:UnspecifiedMatching -OMIM:605167 BAGE skos:exactMatch hgnc.symbol:942 semapv:UnspecifiedMatching -OMIM:605167 BAGE skos:exactMatch hgnc.symbol:BAGE semapv:UnspecifiedMatching -OMIM:605167 BAGE skos:exactMatch ncbigene:574 semapv:UnspecifiedMatching -OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:3560 semapv:UnspecifiedMatching -OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:FABP5 semapv:UnspecifiedMatching -OMIM:605168 FABP5 skos:exactMatch ncbigene:2171 semapv:UnspecifiedMatching -OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:3320 semapv:UnspecifiedMatching -OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:ELF5 semapv:UnspecifiedMatching -OMIM:605169 ELF5 skos:exactMatch ncbigene:2001 semapv:UnspecifiedMatching -OMIM:605170 EI24 skos:exactMatch hgnc.symbol:13276 semapv:UnspecifiedMatching -OMIM:605170 EI24 skos:exactMatch hgnc.symbol:EI24 semapv:UnspecifiedMatching -OMIM:605170 EI24 skos:exactMatch ncbigene:9538 semapv:UnspecifiedMatching -OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:19373 semapv:UnspecifiedMatching -OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:TP53I3 semapv:UnspecifiedMatching -OMIM:605171 TP53I3 skos:exactMatch ncbigene:9540 semapv:UnspecifiedMatching -OMIM:605172 PTGES skos:exactMatch hgnc.symbol:9599 semapv:UnspecifiedMatching -OMIM:605172 PTGES skos:exactMatch hgnc.symbol:PTGES semapv:UnspecifiedMatching -OMIM:605172 PTGES skos:exactMatch ncbigene:9536 semapv:UnspecifiedMatching -OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:3345 semapv:UnspecifiedMatching -OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:ENC1 semapv:UnspecifiedMatching -OMIM:605173 ENC1 skos:exactMatch ncbigene:8507 semapv:UnspecifiedMatching -OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:217 semapv:UnspecifiedMatching -OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:ADAMTS1 semapv:UnspecifiedMatching -OMIM:605174 ADAMTS1 skos:exactMatch ncbigene:9510 semapv:UnspecifiedMatching -OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:224 semapv:UnspecifiedMatching -OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:ADAMTS8 semapv:UnspecifiedMatching -OMIM:605175 ADAMTS8 skos:exactMatch ncbigene:11095 semapv:UnspecifiedMatching -OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:4810 semapv:UnspecifiedMatching -OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:HAO2 semapv:UnspecifiedMatching -OMIM:605176 HAO2 skos:exactMatch ncbigene:51179 semapv:UnspecifiedMatching -OMIM:605178 GAS8 skos:exactMatch UMLS:C1333661 semapv:UnspecifiedMatching -OMIM:605178 GAS8 skos:exactMatch UMLS:C4225230 semapv:UnspecifiedMatching -OMIM:605178 GAS8 skos:exactMatch hgnc.symbol:4166 semapv:UnspecifiedMatching -OMIM:605178 GAS8 skos:exactMatch hgnc.symbol:GAS8 semapv:UnspecifiedMatching -OMIM:605178 GAS8 skos:exactMatch ncbigene:2622 semapv:UnspecifiedMatching -OMIM:605179 GAS8AS1 skos:exactMatch hgnc.symbol:1197 semapv:UnspecifiedMatching -OMIM:605179 GAS8AS1 skos:exactMatch hgnc.symbol:GAS8-AS1 semapv:UnspecifiedMatching -OMIM:605179 GAS8AS1 skos:exactMatch ncbigene:750 semapv:UnspecifiedMatching -OMIM:605180 SLC38A2 skos:exactMatch hgnc.symbol:13448 semapv:UnspecifiedMatching -OMIM:605180 SLC38A2 skos:exactMatch hgnc.symbol:SLC38A2 semapv:UnspecifiedMatching -OMIM:605180 SLC38A2 skos:exactMatch ncbigene:54407 semapv:UnspecifiedMatching -OMIM:605181 TM7SF3 skos:exactMatch hgnc.symbol:23049 semapv:UnspecifiedMatching -OMIM:605181 TM7SF3 skos:exactMatch hgnc.symbol:TM7SF3 semapv:UnspecifiedMatching -OMIM:605181 TM7SF3 skos:exactMatch ncbigene:51768 semapv:UnspecifiedMatching -OMIM:605182 RASA3 skos:exactMatch hgnc.symbol:20331 semapv:UnspecifiedMatching -OMIM:605182 RASA3 skos:exactMatch hgnc.symbol:RASA3 semapv:UnspecifiedMatching -OMIM:605182 RASA3 skos:exactMatch ncbigene:22821 semapv:UnspecifiedMatching -OMIM:605183 CALML5 skos:exactMatch hgnc.symbol:18180 semapv:UnspecifiedMatching -OMIM:605183 CALML5 skos:exactMatch hgnc.symbol:CALML5 semapv:UnspecifiedMatching -OMIM:605183 CALML5 skos:exactMatch ncbigene:51806 semapv:UnspecifiedMatching -OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:16945 semapv:UnspecifiedMatching -OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:PAIP1 semapv:UnspecifiedMatching -OMIM:605184 PAIP1 skos:exactMatch ncbigene:10605 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch UMLS:C1414072 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch UMLS:C4225271 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:2910 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:DLL4 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch ncbigene:54567 semapv:UnspecifiedMatching -OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:18081 semapv:UnspecifiedMatching -OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:WIF1 semapv:UnspecifiedMatching -OMIM:605186 WIF1 skos:exactMatch ncbigene:11197 semapv:UnspecifiedMatching -OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:4482 semapv:UnspecifiedMatching -OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:GPR27 semapv:UnspecifiedMatching -OMIM:605187 GPR27 skos:exactMatch ncbigene:2850 semapv:UnspecifiedMatching -OMIM:605188 GPR85 skos:exactMatch hgnc.symbol:4536 semapv:UnspecifiedMatching -OMIM:605188 GPR85 skos:exactMatch hgnc.symbol:GPR85 semapv:UnspecifiedMatching -OMIM:605188 GPR85 skos:exactMatch ncbigene:54329 semapv:UnspecifiedMatching -OMIM:605189 DKK1 skos:exactMatch UMLS:C1414057 semapv:UnspecifiedMatching -OMIM:605189 DKK1 skos:exactMatch hgnc.symbol:2891 semapv:UnspecifiedMatching -OMIM:605189 DKK1 skos:exactMatch hgnc.symbol:DKK1 semapv:UnspecifiedMatching -OMIM:605189 DKK1 skos:exactMatch ncbigene:22943 semapv:UnspecifiedMatching -OMIM:605190 TRAM1 skos:exactMatch hgnc.symbol:20568 semapv:UnspecifiedMatching -OMIM:605190 TRAM1 skos:exactMatch hgnc.symbol:TRAM1 semapv:UnspecifiedMatching -OMIM:605190 TRAM1 skos:exactMatch ncbigene:23471 semapv:UnspecifiedMatching -OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:17307 semapv:UnspecifiedMatching -OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:BTAF1 semapv:UnspecifiedMatching -OMIM:605191 BTAF1 skos:exactMatch ncbigene:9044 semapv:UnspecifiedMatching -OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:687 semapv:UnspecifiedMatching -OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:DIRAS3 semapv:UnspecifiedMatching -OMIM:605193 DIRAS3 skos:exactMatch ncbigene:9077 semapv:UnspecifiedMatching -OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:18292 semapv:UnspecifiedMatching -OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:CFC1 semapv:UnspecifiedMatching -OMIM:605194 CFC1 skos:exactMatch ncbigene:55997 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch UMLS:C1825969 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch UMLS:C1837549 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:29659 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:MESP2 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch ncbigene:145873 semapv:UnspecifiedMatching -OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:18175 semapv:UnspecifiedMatching -OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:COQ3 semapv:UnspecifiedMatching -OMIM:605196 COQ3 skos:exactMatch ncbigene:51805 semapv:UnspecifiedMatching -OMIM:605197 KYNU skos:exactMatch hgnc.symbol:6469 semapv:UnspecifiedMatching -OMIM:605197 KYNU skos:exactMatch hgnc.symbol:KYNU semapv:UnspecifiedMatching -OMIM:605197 KYNU skos:exactMatch ncbigene:8942 semapv:UnspecifiedMatching -OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:16705 semapv:UnspecifiedMatching -OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:TENT4A semapv:UnspecifiedMatching -OMIM:605198 TENT4A skos:exactMatch ncbigene:11044 semapv:UnspecifiedMatching -OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:10774 semapv:UnspecifiedMatching -OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:SFPQ semapv:UnspecifiedMatching -OMIM:605199 SFPQ skos:exactMatch ncbigene:6421 semapv:UnspecifiedMatching -OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:4876 semapv:UnspecifiedMatching -OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:HERC3 semapv:UnspecifiedMatching -OMIM:605200 HERC3 skos:exactMatch ncbigene:8916 semapv:UnspecifiedMatching -OMIM:605202 NANS skos:exactMatch hgnc.symbol:19237 semapv:UnspecifiedMatching -OMIM:605202 NANS skos:exactMatch hgnc.symbol:NANS semapv:UnspecifiedMatching -OMIM:605202 NANS skos:exactMatch ncbigene:54187 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C1540039 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C1851945 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C4016919 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C4016920 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:3098 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:TOR1A semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch ncbigene:1861 semapv:UnspecifiedMatching -OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:21285 semapv:UnspecifiedMatching -OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:ADCY10 semapv:UnspecifiedMatching -OMIM:605205 ADCY10 skos:exactMatch ncbigene:55811 semapv:UnspecifiedMatching -OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:16882 semapv:UnspecifiedMatching -OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:HCN4 semapv:UnspecifiedMatching -OMIM:605206 HCN4 skos:exactMatch ncbigene:10021 semapv:UnspecifiedMatching -OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:20581 semapv:UnspecifiedMatching -OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:CYP26B1 semapv:UnspecifiedMatching -OMIM:605207 CYP26B1 skos:exactMatch ncbigene:56603 semapv:UnspecifiedMatching -OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:16704 semapv:UnspecifiedMatching -OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:SLC17A7 semapv:UnspecifiedMatching -OMIM:605208 SLC17A7 skos:exactMatch ncbigene:57030 semapv:UnspecifiedMatching -OMIM:605209 CHFR skos:exactMatch hgnc.symbol:20455 semapv:UnspecifiedMatching -OMIM:605209 CHFR skos:exactMatch hgnc.symbol:CHFR semapv:UnspecifiedMatching -OMIM:605209 CHFR skos:exactMatch ncbigene:55743 semapv:UnspecifiedMatching -OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:2888 semapv:UnspecifiedMatching -OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:DISC1 semapv:UnspecifiedMatching -OMIM:605210 DISC1 skos:exactMatch ncbigene:27185 semapv:UnspecifiedMatching -OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:953 semapv:UnspecifiedMatching -OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:BARHL1 semapv:UnspecifiedMatching -OMIM:605211 BARHL1 skos:exactMatch ncbigene:56751 semapv:UnspecifiedMatching -OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:954 semapv:UnspecifiedMatching -OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:BARHL2 semapv:UnspecifiedMatching -OMIM:605212 BARHL2 skos:exactMatch ncbigene:343472 semapv:UnspecifiedMatching -OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:8816 semapv:UnspecifiedMatching -OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:PDPK1 semapv:UnspecifiedMatching -OMIM:605213 PDPK1 skos:exactMatch ncbigene:5170 semapv:UnspecifiedMatching -OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:6286 semapv:UnspecifiedMatching -OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:KCNMB2 semapv:UnspecifiedMatching -OMIM:605214 KCNMB2 skos:exactMatch ncbigene:10242 semapv:UnspecifiedMatching -OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:15687 semapv:UnspecifiedMatching -OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:SKAP2 semapv:UnspecifiedMatching -OMIM:605215 SKAP2 skos:exactMatch ncbigene:8935 semapv:UnspecifiedMatching -OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:684 semapv:UnspecifiedMatching -OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:ARHGEF4 semapv:UnspecifiedMatching -OMIM:605216 ARHGEF4 skos:exactMatch ncbigene:50649 semapv:UnspecifiedMatching -OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:29869 semapv:UnspecifiedMatching -OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:SHC2 semapv:UnspecifiedMatching -OMIM:605217 SHC2 skos:exactMatch ncbigene:25759 semapv:UnspecifiedMatching -OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:21528 semapv:UnspecifiedMatching -OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:DIABLO semapv:UnspecifiedMatching -OMIM:605219 DIABLO skos:exactMatch ncbigene:56616 semapv:UnspecifiedMatching -OMIM:605220 APOBR skos:exactMatch hgnc.symbol:24087 semapv:UnspecifiedMatching -OMIM:605220 APOBR skos:exactMatch hgnc.symbol:APOBR semapv:UnspecifiedMatching -OMIM:605220 APOBR skos:exactMatch ncbigene:55911 semapv:UnspecifiedMatching -OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:16713 semapv:UnspecifiedMatching -OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:SRSF10 semapv:UnspecifiedMatching -OMIM:605221 SRSF10 skos:exactMatch ncbigene:10772 semapv:UnspecifiedMatching -OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:6287 semapv:UnspecifiedMatching -OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:KCNMB3 semapv:UnspecifiedMatching -OMIM:605222 KCNMB3 skos:exactMatch ncbigene:27094 semapv:UnspecifiedMatching -OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:6289 semapv:UnspecifiedMatching -OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:KCNMB4 semapv:UnspecifiedMatching -OMIM:605223 KCNMB4 skos:exactMatch ncbigene:27345 semapv:UnspecifiedMatching -OMIM:605224 RRH skos:exactMatch hgnc.symbol:10450 semapv:UnspecifiedMatching -OMIM:605224 RRH skos:exactMatch hgnc.symbol:RRH semapv:UnspecifiedMatching -OMIM:605224 RRH skos:exactMatch ncbigene:10692 semapv:UnspecifiedMatching -OMIM:605226 RERE skos:exactMatch hgnc.symbol:9965 semapv:UnspecifiedMatching -OMIM:605226 RERE skos:exactMatch hgnc.symbol:RERE semapv:UnspecifiedMatching -OMIM:605226 RERE skos:exactMatch ncbigene:473 semapv:UnspecifiedMatching -OMIM:605227 RECK skos:exactMatch hgnc.symbol:11345 semapv:UnspecifiedMatching -OMIM:605227 RECK skos:exactMatch hgnc.symbol:RECK semapv:UnspecifiedMatching -OMIM:605227 RECK skos:exactMatch ncbigene:8434 semapv:UnspecifiedMatching -OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:24217 semapv:UnspecifiedMatching -OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:CIR1 semapv:UnspecifiedMatching -OMIM:605228 CIR1 skos:exactMatch ncbigene:9541 semapv:UnspecifiedMatching -OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:11999 semapv:UnspecifiedMatching -OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:TP53BP1 semapv:UnspecifiedMatching -OMIM:605230 TP53BP1 skos:exactMatch ncbigene:7158 semapv:UnspecifiedMatching -OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:14540 semapv:UnspecifiedMatching -OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:WNK1 semapv:UnspecifiedMatching -OMIM:605232 WNK1 skos:exactMatch ncbigene:65125 semapv:UnspecifiedMatching -OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:13548 semapv:UnspecifiedMatching -OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:VN1R1 semapv:UnspecifiedMatching -OMIM:605234 VN1R1 skos:exactMatch ncbigene:57191 semapv:UnspecifiedMatching -OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:7869 semapv:UnspecifiedMatching -OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:NOL3 semapv:UnspecifiedMatching -OMIM:605235 NOL3 skos:exactMatch ncbigene:8996 semapv:UnspecifiedMatching -OMIM:605236 CORIN skos:exactMatch hgnc.symbol:19012 semapv:UnspecifiedMatching -OMIM:605236 CORIN skos:exactMatch hgnc.symbol:CORIN semapv:UnspecifiedMatching -OMIM:605236 CORIN skos:exactMatch ncbigene:10699 semapv:UnspecifiedMatching -OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:12827 semapv:UnspecifiedMatching -OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:XPR1 semapv:UnspecifiedMatching -OMIM:605237 XPR1 skos:exactMatch ncbigene:9213 semapv:UnspecifiedMatching -OMIM:605238 HNMT skos:exactMatch hgnc.symbol:5028 semapv:UnspecifiedMatching -OMIM:605238 HNMT skos:exactMatch hgnc.symbol:HNMT semapv:UnspecifiedMatching -OMIM:605238 HNMT skos:exactMatch ncbigene:3176 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C1412686 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436959 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436960 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:866 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:ATP6V0A4 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch ncbigene:50617 semapv:UnspecifiedMatching -OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:17700 semapv:UnspecifiedMatching -OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:CCL28 semapv:UnspecifiedMatching -OMIM:605240 CCL28 skos:exactMatch ncbigene:56477 semapv:UnspecifiedMatching -OMIM:605241 LY86 skos:exactMatch hgnc.symbol:16837 semapv:UnspecifiedMatching -OMIM:605241 LY86 skos:exactMatch hgnc.symbol:LY86 semapv:UnspecifiedMatching -OMIM:605241 LY86 skos:exactMatch ncbigene:9450 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C1421379 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch hgnc.symbol:12597 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch hgnc.symbol:USH1C semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch ncbigene:10083 semapv:UnspecifiedMatching -OMIM:605243 LY96 skos:exactMatch hgnc.symbol:17156 semapv:UnspecifiedMatching -OMIM:605243 LY96 skos:exactMatch hgnc.symbol:LY96 semapv:UnspecifiedMatching -OMIM:605243 LY96 skos:exactMatch ncbigene:23643 semapv:UnspecifiedMatching -OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:13812 semapv:UnspecifiedMatching -OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:SLC2A8 semapv:UnspecifiedMatching -OMIM:605245 SLC2A8 skos:exactMatch ncbigene:29988 semapv:UnspecifiedMatching -OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:1319 semapv:UnspecifiedMatching -OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:C3AR1 semapv:UnspecifiedMatching -OMIM:605246 C3AR1 skos:exactMatch ncbigene:719 semapv:UnspecifiedMatching -OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:16491 semapv:UnspecifiedMatching -OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:PIDD1 semapv:UnspecifiedMatching -OMIM:605247 PIDD1 skos:exactMatch ncbigene:55367 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch UMLS:C0238286 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch UMLS:C1421947 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:13356 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:MCOLN1 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch ncbigene:57192 semapv:UnspecifiedMatching -OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:55 semapv:UnspecifiedMatching -OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:ABCC4 semapv:UnspecifiedMatching -OMIM:605250 ABCC4 skos:exactMatch ncbigene:10257 semapv:UnspecifiedMatching -OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:56 semapv:UnspecifiedMatching -OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:ABCC5 semapv:UnspecifiedMatching -OMIM:605251 ABCC5 skos:exactMatch ncbigene:10057 semapv:UnspecifiedMatching -OMIM:605252 POLI skos:exactMatch hgnc.symbol:9182 semapv:UnspecifiedMatching -OMIM:605252 POLI skos:exactMatch hgnc.symbol:POLI semapv:UnspecifiedMatching -OMIM:605252 POLI skos:exactMatch ncbigene:11201 semapv:UnspecifiedMatching -OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching -OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721436 semapv:UnspecifiedMatching -OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721437 semapv:UnspecifiedMatching -OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:17091 semapv:UnspecifiedMatching -OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:NCSTN semapv:UnspecifiedMatching -OMIM:605254 NCSTN skos:exactMatch ncbigene:23385 semapv:UnspecifiedMatching -OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:18160 semapv:UnspecifiedMatching -OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:ETV7 semapv:UnspecifiedMatching -OMIM:605255 ETV7 skos:exactMatch ncbigene:51513 semapv:UnspecifiedMatching -OMIM:605256 RAD18 skos:exactMatch hgnc.symbol:18278 semapv:UnspecifiedMatching -OMIM:605256 RAD18 skos:exactMatch hgnc.symbol:RAD18 semapv:UnspecifiedMatching -OMIM:605256 RAD18 skos:exactMatch ncbigene:56852 semapv:UnspecifiedMatching -OMIM:605257 AICDA skos:exactMatch hgnc.symbol:13203 semapv:UnspecifiedMatching -OMIM:605257 AICDA skos:exactMatch hgnc.symbol:AICDA semapv:UnspecifiedMatching -OMIM:605257 AICDA skos:exactMatch ncbigene:57379 semapv:UnspecifiedMatching -OMIM:605261 NOX4 skos:exactMatch hgnc.symbol:7891 semapv:UnspecifiedMatching -OMIM:605261 NOX4 skos:exactMatch hgnc.symbol:NOX4 semapv:UnspecifiedMatching -OMIM:605261 NOX4 skos:exactMatch ncbigene:50507 semapv:UnspecifiedMatching -OMIM:605262 NDRG1 skos:exactMatch hgnc.symbol:7679 semapv:UnspecifiedMatching -OMIM:605262 NDRG1 skos:exactMatch hgnc.symbol:NDRG1 semapv:UnspecifiedMatching -OMIM:605262 NDRG1 skos:exactMatch ncbigene:10397 semapv:UnspecifiedMatching -OMIM:605263 SHC3 skos:exactMatch hgnc.symbol:18181 semapv:UnspecifiedMatching -OMIM:605263 SHC3 skos:exactMatch hgnc.symbol:SHC3 semapv:UnspecifiedMatching -OMIM:605263 SHC3 skos:exactMatch ncbigene:53358 semapv:UnspecifiedMatching -OMIM:605264 SORBS1 skos:exactMatch UMLS:C1422760 semapv:UnspecifiedMatching -OMIM:605264 SORBS1 skos:exactMatch hgnc.symbol:14565 semapv:UnspecifiedMatching -OMIM:605264 SORBS1 skos:exactMatch hgnc.symbol:SORBS1 semapv:UnspecifiedMatching -OMIM:605264 SORBS1 skos:exactMatch ncbigene:10580 semapv:UnspecifiedMatching -OMIM:605265 AVEN skos:exactMatch hgnc.symbol:13509 semapv:UnspecifiedMatching -OMIM:605265 AVEN skos:exactMatch hgnc.symbol:AVEN semapv:UnspecifiedMatching -OMIM:605265 AVEN skos:exactMatch ncbigene:57099 semapv:UnspecifiedMatching -OMIM:605266 JPH1 skos:exactMatch hgnc.symbol:14201 semapv:UnspecifiedMatching -OMIM:605266 JPH1 skos:exactMatch hgnc.symbol:JPH1 semapv:UnspecifiedMatching -OMIM:605266 JPH1 skos:exactMatch ncbigene:56704 semapv:UnspecifiedMatching -OMIM:605267 JPH2 skos:exactMatch hgnc.symbol:14202 semapv:UnspecifiedMatching -OMIM:605267 JPH2 skos:exactMatch hgnc.symbol:JPH2 semapv:UnspecifiedMatching -OMIM:605267 JPH2 skos:exactMatch ncbigene:57158 semapv:UnspecifiedMatching -OMIM:605268 JPH3 skos:exactMatch hgnc.symbol:14203 semapv:UnspecifiedMatching -OMIM:605268 JPH3 skos:exactMatch hgnc.symbol:JPH3 semapv:UnspecifiedMatching -OMIM:605268 JPH3 skos:exactMatch ncbigene:57338 semapv:UnspecifiedMatching -OMIM:605269 CORO1C skos:exactMatch hgnc.symbol:2254 semapv:UnspecifiedMatching -OMIM:605269 CORO1C skos:exactMatch hgnc.symbol:CORO1C semapv:UnspecifiedMatching -OMIM:605269 CORO1C skos:exactMatch ncbigene:23603 semapv:UnspecifiedMatching -OMIM:605270 SGSH skos:exactMatch hgnc.symbol:10818 semapv:UnspecifiedMatching -OMIM:605270 SGSH skos:exactMatch hgnc.symbol:SGSH semapv:UnspecifiedMatching -OMIM:605270 SGSH skos:exactMatch ncbigene:6448 semapv:UnspecifiedMatching -OMIM:605271 SERPINA10 skos:exactMatch hgnc.symbol:15996 semapv:UnspecifiedMatching -OMIM:605271 SERPINA10 skos:exactMatch hgnc.symbol:SERPINA10 semapv:UnspecifiedMatching -OMIM:605271 SERPINA10 skos:exactMatch ncbigene:51156 semapv:UnspecifiedMatching -OMIM:605272 NDRG2 skos:exactMatch hgnc.symbol:14460 semapv:UnspecifiedMatching -OMIM:605272 NDRG2 skos:exactMatch hgnc.symbol:NDRG2 semapv:UnspecifiedMatching -OMIM:605272 NDRG2 skos:exactMatch ncbigene:57447 semapv:UnspecifiedMatching -OMIM:605273 NDRG3 skos:exactMatch hgnc.symbol:14462 semapv:UnspecifiedMatching -OMIM:605273 NDRG3 skos:exactMatch hgnc.symbol:NDRG3 semapv:UnspecifiedMatching -OMIM:605273 NDRG3 skos:exactMatch ncbigene:57446 semapv:UnspecifiedMatching -OMIM:605276 AATK skos:exactMatch hgnc.symbol:21 semapv:UnspecifiedMatching -OMIM:605276 AATK skos:exactMatch hgnc.symbol:AATK semapv:UnspecifiedMatching -OMIM:605276 AATK skos:exactMatch ncbigene:9625 semapv:UnspecifiedMatching -OMIM:605277 GRLF1 skos:exactMatch hgnc.symbol:4591 semapv:UnspecifiedMatching -OMIM:605277 GRLF1 skos:exactMatch hgnc.symbol:ARHGAP35 semapv:UnspecifiedMatching -OMIM:605277 GRLF1 skos:exactMatch ncbigene:2909 semapv:UnspecifiedMatching -OMIM:605278 CES2 skos:exactMatch hgnc.symbol:1864 semapv:UnspecifiedMatching -OMIM:605278 CES2 skos:exactMatch hgnc.symbol:CES2 semapv:UnspecifiedMatching -OMIM:605278 CES2 skos:exactMatch ncbigene:8824 semapv:UnspecifiedMatching -OMIM:605279 CES3 skos:exactMatch hgnc.symbol:1865 semapv:UnspecifiedMatching -OMIM:605279 CES3 skos:exactMatch hgnc.symbol:CES3 semapv:UnspecifiedMatching -OMIM:605279 CES3 skos:exactMatch ncbigene:23491 semapv:UnspecifiedMatching -OMIM:605281 DDX4 skos:exactMatch UMLS:C1425720 semapv:UnspecifiedMatching -OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:18700 semapv:UnspecifiedMatching -OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:DDX4 semapv:UnspecifiedMatching -OMIM:605281 DDX4 skos:exactMatch ncbigene:54514 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch UMLS:C1416986 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:6814 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:MAGEL2 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch ncbigene:54551 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch UMLS:C0694894 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch UMLS:C0751674 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch UMLS:C1854465 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch hgnc.symbol:12362 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch hgnc.symbol:TSC1 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch ncbigene:7248 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch UMLS:C1413110 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch UMLS:C1854448 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch UMLS:C5436961 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch hgnc.symbol:1477 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch hgnc.symbol:CAPN10 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch ncbigene:11132 semapv:UnspecifiedMatching -OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:10079 semapv:UnspecifiedMatching -OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:RNPEPL1 semapv:UnspecifiedMatching -OMIM:605287 RNPEPL1 skos:exactMatch ncbigene:57140 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C1417953 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C1847730 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch UMLS:C4225538 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:8140 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:OPA1 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch ncbigene:4976 semapv:UnspecifiedMatching -OMIM:605292 NT5M skos:exactMatch hgnc.symbol:15769 semapv:UnspecifiedMatching -OMIM:605292 NT5M skos:exactMatch hgnc.symbol:NT5M semapv:UnspecifiedMatching -OMIM:605292 NT5M skos:exactMatch ncbigene:56953 semapv:UnspecifiedMatching -OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:6938 semapv:UnspecifiedMatching -OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:CHST6 semapv:UnspecifiedMatching -OMIM:605294 CHST6 skos:exactMatch ncbigene:4166 semapv:UnspecifiedMatching -OMIM:605295 FIGN skos:exactMatch hgnc.symbol:13285 semapv:UnspecifiedMatching -OMIM:605295 FIGN skos:exactMatch hgnc.symbol:FIGN semapv:UnspecifiedMatching -OMIM:605295 FIGN skos:exactMatch ncbigene:55137 semapv:UnspecifiedMatching -OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:3043 semapv:UnspecifiedMatching -OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:PSMG1 semapv:UnspecifiedMatching -OMIM:605296 PSMG1 skos:exactMatch ncbigene:8624 semapv:UnspecifiedMatching -OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:15934 semapv:UnspecifiedMatching -OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:NELFCD semapv:UnspecifiedMatching -OMIM:605297 NELFCD skos:exactMatch ncbigene:51497 semapv:UnspecifiedMatching -OMIM:605298 VPS26C skos:exactMatch UMLS:C1414164 semapv:UnspecifiedMatching -OMIM:605298 VPS26C skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:3044 semapv:UnspecifiedMatching -OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:VPS26C semapv:UnspecifiedMatching -OMIM:605298 VPS26C skos:exactMatch ncbigene:10311 semapv:UnspecifiedMatching -OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:15936 semapv:UnspecifiedMatching -OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:NCOA6 semapv:UnspecifiedMatching -OMIM:605299 NCOA6 skos:exactMatch ncbigene:23054 semapv:UnspecifiedMatching -OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:17381 semapv:UnspecifiedMatching -OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:SH2B2 semapv:UnspecifiedMatching -OMIM:605300 SH2B2 skos:exactMatch ncbigene:10603 semapv:UnspecifiedMatching -OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:11522 semapv:UnspecifiedMatching -OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:TACC1 semapv:UnspecifiedMatching -OMIM:605301 TACC1 skos:exactMatch ncbigene:6867 semapv:UnspecifiedMatching -OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:11523 semapv:UnspecifiedMatching -OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:TACC2 semapv:UnspecifiedMatching -OMIM:605302 TACC2 skos:exactMatch ncbigene:10579 semapv:UnspecifiedMatching -OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:11524 semapv:UnspecifiedMatching -OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:TACC3 semapv:UnspecifiedMatching -OMIM:605303 TACC3 skos:exactMatch ncbigene:10460 semapv:UnspecifiedMatching -OMIM:605304 NGB skos:exactMatch hgnc.symbol:14077 semapv:UnspecifiedMatching -OMIM:605304 NGB skos:exactMatch hgnc.symbol:NGB semapv:UnspecifiedMatching -OMIM:605304 NGB skos:exactMatch ncbigene:58157 semapv:UnspecifiedMatching -OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:16345 semapv:UnspecifiedMatching -OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:KIR2DL5A semapv:UnspecifiedMatching -OMIM:605305 KIR2DL5A skos:exactMatch ncbigene:57292 semapv:UnspecifiedMatching -OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:13257 semapv:UnspecifiedMatching -OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:CLEC4A semapv:UnspecifiedMatching -OMIM:605306 CLEC4A skos:exactMatch ncbigene:50856 semapv:UnspecifiedMatching -OMIM:605307 ADMR skos:exactMatch hgnc.symbol:13708 semapv:UnspecifiedMatching -OMIM:605307 ADMR skos:exactMatch hgnc.symbol:GPR182 semapv:UnspecifiedMatching -OMIM:605307 ADMR skos:exactMatch ncbigene:11318 semapv:UnspecifiedMatching -OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:16403 semapv:UnspecifiedMatching -OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:ZNF346 semapv:UnspecifiedMatching -OMIM:605308 ZNF346 skos:exactMatch ncbigene:23567 semapv:UnspecifiedMatching -OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:13930 semapv:UnspecifiedMatching -OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:CCHCR1 semapv:UnspecifiedMatching -OMIM:605310 CCHCR1 skos:exactMatch ncbigene:54535 semapv:UnspecifiedMatching -OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:30142 semapv:UnspecifiedMatching -OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:GDF15 semapv:UnspecifiedMatching -OMIM:605312 GDF15 skos:exactMatch ncbigene:9518 semapv:UnspecifiedMatching -OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:9905 semapv:UnspecifiedMatching -OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:RBM8A semapv:UnspecifiedMatching -OMIM:605313 RBM8A skos:exactMatch ncbigene:9939 semapv:UnspecifiedMatching -OMIM:605314 HDAC4 skos:exactMatch UMLS:C1333893 semapv:UnspecifiedMatching -OMIM:605314 HDAC4 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:14063 semapv:UnspecifiedMatching -OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:HDAC4 semapv:UnspecifiedMatching -OMIM:605314 HDAC4 skos:exactMatch ncbigene:9759 semapv:UnspecifiedMatching -OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:14068 semapv:UnspecifiedMatching -OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:HDAC5 semapv:UnspecifiedMatching -OMIM:605315 HDAC5 skos:exactMatch ncbigene:10014 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch UMLS:C1422249 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:13875 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:FOXP2 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch ncbigene:93986 semapv:UnspecifiedMatching -OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:8874 semapv:UnspecifiedMatching -OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:PFKFB3 semapv:UnspecifiedMatching -OMIM:605319 PFKFB3 skos:exactMatch ncbigene:5209 semapv:UnspecifiedMatching -OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:8875 semapv:UnspecifiedMatching -OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:PFKFB4 semapv:UnspecifiedMatching -OMIM:605320 PFKFB4 skos:exactMatch ncbigene:5210 semapv:UnspecifiedMatching -OMIM:605322 WFDC1 skos:exactMatch hgnc.symbol:15466 semapv:UnspecifiedMatching -OMIM:605322 WFDC1 skos:exactMatch hgnc.symbol:WFDC1 semapv:UnspecifiedMatching -OMIM:605322 WFDC1 skos:exactMatch ncbigene:58189 semapv:UnspecifiedMatching -OMIM:605323 CTDSP1 skos:exactMatch hgnc.symbol:21614 semapv:UnspecifiedMatching -OMIM:605323 CTDSP1 skos:exactMatch hgnc.symbol:CTDSP1 semapv:UnspecifiedMatching -OMIM:605323 CTDSP1 skos:exactMatch ncbigene:58190 semapv:UnspecifiedMatching -OMIM:605324 APPBP2 skos:exactMatch hgnc.symbol:622 semapv:UnspecifiedMatching -OMIM:605324 APPBP2 skos:exactMatch hgnc.symbol:APPBP2 semapv:UnspecifiedMatching -OMIM:605324 APPBP2 skos:exactMatch ncbigene:10513 semapv:UnspecifiedMatching -OMIM:605325 CYP3A5 skos:exactMatch hgnc.symbol:2638 semapv:UnspecifiedMatching -OMIM:605325 CYP3A5 skos:exactMatch hgnc.symbol:CYP3A5 semapv:UnspecifiedMatching -OMIM:605325 CYP3A5 skos:exactMatch ncbigene:1577 semapv:UnspecifiedMatching -OMIM:605326 TAX1BP1 skos:exactMatch hgnc.symbol:11575 semapv:UnspecifiedMatching -OMIM:605326 TAX1BP1 skos:exactMatch hgnc.symbol:TAX1BP1 semapv:UnspecifiedMatching -OMIM:605326 TAX1BP1 skos:exactMatch ncbigene:8887 semapv:UnspecifiedMatching -OMIM:605327 NFIL3 skos:exactMatch hgnc.symbol:7787 semapv:UnspecifiedMatching -OMIM:605327 NFIL3 skos:exactMatch hgnc.symbol:NFIL3 semapv:UnspecifiedMatching -OMIM:605327 NFIL3 skos:exactMatch ncbigene:4783 semapv:UnspecifiedMatching -OMIM:605328 KLF13 skos:exactMatch hgnc.symbol:13672 semapv:UnspecifiedMatching -OMIM:605328 KLF13 skos:exactMatch hgnc.symbol:KLF13 semapv:UnspecifiedMatching -OMIM:605328 KLF13 skos:exactMatch ncbigene:51621 semapv:UnspecifiedMatching -OMIM:605330 IL22 skos:exactMatch UMLS:C1423038 semapv:UnspecifiedMatching -OMIM:605330 IL22 skos:exactMatch hgnc.symbol:14900 semapv:UnspecifiedMatching -OMIM:605330 IL22 skos:exactMatch hgnc.symbol:IL22 semapv:UnspecifiedMatching -OMIM:605330 IL22 skos:exactMatch ncbigene:50616 semapv:UnspecifiedMatching -OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:3380 semapv:UnspecifiedMatching -OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:EPB41L3 semapv:UnspecifiedMatching -OMIM:605331 EPB41L3 skos:exactMatch ncbigene:23136 semapv:UnspecifiedMatching -OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:6352 semapv:UnspecifiedMatching -OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:KLHL1 semapv:UnspecifiedMatching -OMIM:605332 KLHL1 skos:exactMatch ncbigene:57626 semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch UMLS:C1332105 semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:20418 semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:PDS5B semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch ncbigene:23047 semapv:UnspecifiedMatching -OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:8933 semapv:UnspecifiedMatching -OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:PHLDA1 semapv:UnspecifiedMatching -OMIM:605335 PHLDA1 skos:exactMatch ncbigene:22822 semapv:UnspecifiedMatching -OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:16980 semapv:UnspecifiedMatching -OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:CFHR3 semapv:UnspecifiedMatching -OMIM:605336 CFHR3 skos:exactMatch ncbigene:10878 semapv:UnspecifiedMatching -OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:16979 semapv:UnspecifiedMatching -OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:CFHR4 semapv:UnspecifiedMatching -OMIM:605337 CFHR4 skos:exactMatch ncbigene:10877 semapv:UnspecifiedMatching -OMIM:605338 INA skos:exactMatch hgnc.symbol:6057 semapv:UnspecifiedMatching -OMIM:605338 INA skos:exactMatch hgnc.symbol:INA semapv:UnspecifiedMatching -OMIM:605338 INA skos:exactMatch ncbigene:9118 semapv:UnspecifiedMatching -OMIM:605339 FXR2 skos:exactMatch hgnc.symbol:4024 semapv:UnspecifiedMatching -OMIM:605339 FXR2 skos:exactMatch hgnc.symbol:FXR2 semapv:UnspecifiedMatching -OMIM:605339 FXR2 skos:exactMatch ncbigene:9513 semapv:UnspecifiedMatching -OMIM:605340 CYP3A7 skos:exactMatch hgnc.symbol:2640 semapv:UnspecifiedMatching -OMIM:605340 CYP3A7 skos:exactMatch hgnc.symbol:CYP3A7 semapv:UnspecifiedMatching -OMIM:605340 CYP3A7 skos:exactMatch ncbigene:1551 semapv:UnspecifiedMatching -OMIM:605341 PILRA skos:exactMatch hgnc.symbol:20396 semapv:UnspecifiedMatching -OMIM:605341 PILRA skos:exactMatch hgnc.symbol:PILRA semapv:UnspecifiedMatching -OMIM:605341 PILRA skos:exactMatch ncbigene:29992 semapv:UnspecifiedMatching -OMIM:605342 PILRB skos:exactMatch hgnc.symbol:18297 semapv:UnspecifiedMatching -OMIM:605342 PILRB skos:exactMatch hgnc.symbol:PILRB semapv:UnspecifiedMatching -OMIM:605342 PILRB skos:exactMatch ncbigene:29990 semapv:UnspecifiedMatching -OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:3973 semapv:UnspecifiedMatching -OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:FSTL3 semapv:UnspecifiedMatching -OMIM:605343 FSTL3 skos:exactMatch ncbigene:10272 semapv:UnspecifiedMatching -OMIM:605344 NFYC skos:exactMatch hgnc.symbol:7806 semapv:UnspecifiedMatching -OMIM:605344 NFYC skos:exactMatch hgnc.symbol:NFYC semapv:UnspecifiedMatching -OMIM:605344 NFYC skos:exactMatch ncbigene:4802 semapv:UnspecifiedMatching -OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:17911 semapv:UnspecifiedMatching -OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:ALKBH1 semapv:UnspecifiedMatching -OMIM:605345 ALKBH1 skos:exactMatch ncbigene:8846 semapv:UnspecifiedMatching -OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:18368 semapv:UnspecifiedMatching -OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:PADI4 semapv:UnspecifiedMatching -OMIM:605347 PADI4 skos:exactMatch ncbigene:23569 semapv:UnspecifiedMatching -OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:30590 semapv:UnspecifiedMatching -OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:TMEM50A semapv:UnspecifiedMatching -OMIM:605348 TMEM50A skos:exactMatch ncbigene:23585 semapv:UnspecifiedMatching -OMIM:605349 NARF skos:exactMatch hgnc.symbol:29916 semapv:UnspecifiedMatching -OMIM:605349 NARF skos:exactMatch hgnc.symbol:NARF semapv:UnspecifiedMatching -OMIM:605349 NARF skos:exactMatch ncbigene:26502 semapv:UnspecifiedMatching -OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:17290 semapv:UnspecifiedMatching -OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:IL27RA semapv:UnspecifiedMatching -OMIM:605350 IL27RA skos:exactMatch ncbigene:9466 semapv:UnspecifiedMatching -OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:3696 semapv:UnspecifiedMatching -OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:FGL2 semapv:UnspecifiedMatching -OMIM:605351 FGL2 skos:exactMatch ncbigene:10875 semapv:UnspecifiedMatching -OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:16982 semapv:UnspecifiedMatching -OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:MFHAS1 semapv:UnspecifiedMatching -OMIM:605352 MFHAS1 skos:exactMatch ncbigene:9258 semapv:UnspecifiedMatching -OMIM:605353 GHRL skos:exactMatch hgnc.symbol:18129 semapv:UnspecifiedMatching -OMIM:605353 GHRL skos:exactMatch hgnc.symbol:GHRL semapv:UnspecifiedMatching -OMIM:605353 GHRL skos:exactMatch ncbigene:51738 semapv:UnspecifiedMatching -OMIM:605354 CARD18 skos:exactMatch hgnc.symbol:28861 semapv:UnspecifiedMatching -OMIM:605354 CARD18 skos:exactMatch hgnc.symbol:CARD18 semapv:UnspecifiedMatching -OMIM:605354 CARD18 skos:exactMatch ncbigene:59082 semapv:UnspecifiedMatching -OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch Orphanet:98902 semapv:UnspecifiedMatching -OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching -OMIM:605356 YWHAG skos:exactMatch UMLS:C1421561 semapv:UnspecifiedMatching -OMIM:605356 YWHAG skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching -OMIM:605356 YWHAG skos:exactMatch hgnc.symbol:12852 semapv:UnspecifiedMatching -OMIM:605356 YWHAG skos:exactMatch hgnc.symbol:YWHAG semapv:UnspecifiedMatching -OMIM:605356 YWHAG skos:exactMatch ncbigene:7532 semapv:UnspecifiedMatching -OMIM:605357 STON1 skos:exactMatch hgnc.symbol:17003 semapv:UnspecifiedMatching -OMIM:605357 STON1 skos:exactMatch hgnc.symbol:STON1 semapv:UnspecifiedMatching -OMIM:605357 STON1 skos:exactMatch ncbigene:11037 semapv:UnspecifiedMatching -OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:30727 semapv:UnspecifiedMatching -OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:GTF2A1L semapv:UnspecifiedMatching -OMIM:605358 GTF2A1L skos:exactMatch ncbigene:11036 semapv:UnspecifiedMatching -OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:18020 semapv:UnspecifiedMatching -OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:PRR4 semapv:UnspecifiedMatching -OMIM:605359 PRR4 skos:exactMatch ncbigene:11272 semapv:UnspecifiedMatching -OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:24926 semapv:UnspecifiedMatching -OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:CCDC85B semapv:UnspecifiedMatching -OMIM:605360 CCDC85B skos:exactMatch ncbigene:11007 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch UMLS:C1414925 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch UMLS:C2751938 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:4092 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:GAD1 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch ncbigene:2571 semapv:UnspecifiedMatching -OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:17187 semapv:UnspecifiedMatching -OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:OLFM1 semapv:UnspecifiedMatching -OMIM:605366 OLFM1 skos:exactMatch ncbigene:10439 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch UMLS:C1422480 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch UMLS:C3539120 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:14198 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:ELAC2 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch ncbigene:60528 semapv:UnspecifiedMatching -OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:1085 semapv:UnspecifiedMatching -OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:BNIP3L semapv:UnspecifiedMatching -OMIM:605368 BNIP3L skos:exactMatch ncbigene:665 semapv:UnspecifiedMatching -OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:24059 semapv:UnspecifiedMatching -OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:TMPRSS11D semapv:UnspecifiedMatching -OMIM:605369 TMPRSS11D skos:exactMatch ncbigene:9407 semapv:UnspecifiedMatching -OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:17073 semapv:UnspecifiedMatching -OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:ARHGAP26 semapv:UnspecifiedMatching -OMIM:605370 ARHGAP26 skos:exactMatch ncbigene:23092 semapv:UnspecifiedMatching -OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:15853 semapv:UnspecifiedMatching -OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:ARFGEF2 semapv:UnspecifiedMatching -OMIM:605371 ARFGEF2 skos:exactMatch ncbigene:10564 semapv:UnspecifiedMatching -OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:24941 semapv:UnspecifiedMatching -OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:HNRNPA3 semapv:UnspecifiedMatching -OMIM:605372 HNRNPA3 skos:exactMatch ncbigene:220988 semapv:UnspecifiedMatching -OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:16911 semapv:UnspecifiedMatching -OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:MYCNOS semapv:UnspecifiedMatching -OMIM:605374 MYCNOS skos:exactMatch ncbigene:10408 semapv:UnspecifiedMatching -OMIM:605377 DMPK skos:exactMatch hgnc.symbol:2933 semapv:UnspecifiedMatching -OMIM:605377 DMPK skos:exactMatch hgnc.symbol:DMPK semapv:UnspecifiedMatching -OMIM:605377 DMPK skos:exactMatch ncbigene:1760 semapv:UnspecifiedMatching -OMIM:605378 AAAS skos:exactMatch hgnc.symbol:13666 semapv:UnspecifiedMatching -OMIM:605378 AAAS skos:exactMatch hgnc.symbol:AAAS semapv:UnspecifiedMatching -OMIM:605378 AAAS skos:exactMatch ncbigene:8086 semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch UMLS:C1414964 semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch hgnc.symbol:4137 semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch hgnc.symbol:GAN semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch ncbigene:8139 semapv:UnspecifiedMatching -OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:3680 semapv:UnspecifiedMatching -OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:FGF23 semapv:UnspecifiedMatching -OMIM:605380 FGF23 skos:exactMatch ncbigene:8074 semapv:UnspecifiedMatching -OMIM:605381 RHCG skos:exactMatch hgnc.symbol:18140 semapv:UnspecifiedMatching -OMIM:605381 RHCG skos:exactMatch hgnc.symbol:RHCG semapv:UnspecifiedMatching -OMIM:605381 RHCG skos:exactMatch ncbigene:51458 semapv:UnspecifiedMatching -OMIM:605383 IL21R skos:exactMatch hgnc.symbol:6006 semapv:UnspecifiedMatching -OMIM:605383 IL21R skos:exactMatch hgnc.symbol:IL21R semapv:UnspecifiedMatching -OMIM:605383 IL21R skos:exactMatch ncbigene:50615 semapv:UnspecifiedMatching -OMIM:605384 IL21 skos:exactMatch hgnc.symbol:6005 semapv:UnspecifiedMatching -OMIM:605384 IL21 skos:exactMatch hgnc.symbol:IL21 semapv:UnspecifiedMatching -OMIM:605384 IL21 skos:exactMatch ncbigene:59067 semapv:UnspecifiedMatching -OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:13721 semapv:UnspecifiedMatching -OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:RCE1 semapv:UnspecifiedMatching -OMIM:605385 RCE1 skos:exactMatch ncbigene:9986 semapv:UnspecifiedMatching -OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:31476 semapv:UnspecifiedMatching -OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:MIRLET7A1 semapv:UnspecifiedMatching -OMIM:605386 MIRLET7A1 skos:exactMatch ncbigene:406881 semapv:UnspecifiedMatching -OMIM:605387 cataract 31, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:605387 cataract 31, multiple types skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching -OMIM:605389 hypotrichosis 1 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching -OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C1854310 semapv:UnspecifiedMatching -OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C4551976 semapv:UnspecifiedMatching -OMIM:605390 LPXN skos:exactMatch hgnc.symbol:14061 semapv:UnspecifiedMatching -OMIM:605390 LPXN skos:exactMatch hgnc.symbol:LPXN semapv:UnspecifiedMatching -OMIM:605390 LPXN skos:exactMatch ncbigene:9404 semapv:UnspecifiedMatching -OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:7102 semapv:UnspecifiedMatching -OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:MINPP1 semapv:UnspecifiedMatching -OMIM:605391 MINPP1 skos:exactMatch ncbigene:9562 semapv:UnspecifiedMatching -OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:17012 semapv:UnspecifiedMatching -OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:CEP43 semapv:UnspecifiedMatching -OMIM:605392 FGFR1OP skos:exactMatch ncbigene:11116 semapv:UnspecifiedMatching -OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:18039 semapv:UnspecifiedMatching -OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:KDM5B semapv:UnspecifiedMatching -OMIM:605393 KDM5B skos:exactMatch ncbigene:10765 semapv:UnspecifiedMatching -OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:14078 semapv:UnspecifiedMatching -OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:BACH2 semapv:UnspecifiedMatching -OMIM:605394 BACH2 skos:exactMatch ncbigene:60468 semapv:UnspecifiedMatching -OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:17291 semapv:UnspecifiedMatching -OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:TMED1 semapv:UnspecifiedMatching -OMIM:605395 TMED1 skos:exactMatch ncbigene:11018 semapv:UnspecifiedMatching -OMIM:605397 CD226 skos:exactMatch hgnc.symbol:16961 semapv:UnspecifiedMatching -OMIM:605397 CD226 skos:exactMatch hgnc.symbol:CD226 semapv:UnspecifiedMatching -OMIM:605397 CD226 skos:exactMatch ncbigene:10666 semapv:UnspecifiedMatching -OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:16642 semapv:UnspecifiedMatching -OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:CXCL16 semapv:UnspecifiedMatching -OMIM:605398 CXCL16 skos:exactMatch ncbigene:58191 semapv:UnspecifiedMatching -OMIM:605399 NID2 skos:exactMatch hgnc.symbol:13389 semapv:UnspecifiedMatching -OMIM:605399 NID2 skos:exactMatch hgnc.symbol:NID2 semapv:UnspecifiedMatching -OMIM:605399 NID2 skos:exactMatch ncbigene:22795 semapv:UnspecifiedMatching -OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:6111 semapv:UnspecifiedMatching -OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:IQGAP2 semapv:UnspecifiedMatching -OMIM:605401 IQGAP2 skos:exactMatch ncbigene:10788 semapv:UnspecifiedMatching -OMIM:605402 CD274 skos:exactMatch UMLS:C1540292 semapv:UnspecifiedMatching -OMIM:605402 CD274 skos:exactMatch hgnc.symbol:17635 semapv:UnspecifiedMatching -OMIM:605402 CD274 skos:exactMatch hgnc.symbol:CD274 semapv:UnspecifiedMatching -OMIM:605402 CD274 skos:exactMatch ncbigene:29126 semapv:UnspecifiedMatching -OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:16711 semapv:UnspecifiedMatching -OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:TLR6 semapv:UnspecifiedMatching -OMIM:605403 TLR6 skos:exactMatch ncbigene:10333 semapv:UnspecifiedMatching -OMIM:605404 BOK skos:exactMatch hgnc.symbol:1087 semapv:UnspecifiedMatching -OMIM:605404 BOK skos:exactMatch hgnc.symbol:BOK semapv:UnspecifiedMatching -OMIM:605404 BOK skos:exactMatch ncbigene:666 semapv:UnspecifiedMatching -OMIM:605405 USP6NL skos:exactMatch hgnc.symbol:16858 semapv:UnspecifiedMatching -OMIM:605405 USP6NL skos:exactMatch hgnc.symbol:USP6NL semapv:UnspecifiedMatching -OMIM:605405 USP6NL skos:exactMatch ncbigene:9712 semapv:UnspecifiedMatching -OMIM:605406 TMED10 skos:exactMatch hgnc.symbol:16998 semapv:UnspecifiedMatching -OMIM:605406 TMED10 skos:exactMatch hgnc.symbol:TMED10 semapv:UnspecifiedMatching -OMIM:605406 TMED10 skos:exactMatch ncbigene:10972 semapv:UnspecifiedMatching -OMIM:605409 TCERG1 skos:exactMatch hgnc.symbol:15630 semapv:UnspecifiedMatching -OMIM:605409 TCERG1 skos:exactMatch hgnc.symbol:TCERG1 semapv:UnspecifiedMatching -OMIM:605409 TCERG1 skos:exactMatch ncbigene:10915 semapv:UnspecifiedMatching -OMIM:605410 KCND2 skos:exactMatch UMLS:C1416561 semapv:UnspecifiedMatching -OMIM:605410 KCND2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605410 KCND2 skos:exactMatch hgnc.symbol:6238 semapv:UnspecifiedMatching -OMIM:605410 KCND2 skos:exactMatch hgnc.symbol:KCND2 semapv:UnspecifiedMatching -OMIM:605410 KCND2 skos:exactMatch ncbigene:3751 semapv:UnspecifiedMatching -OMIM:605411 KCND3 skos:exactMatch hgnc.symbol:6239 semapv:UnspecifiedMatching -OMIM:605411 KCND3 skos:exactMatch hgnc.symbol:KCND3 semapv:UnspecifiedMatching -OMIM:605411 KCND3 skos:exactMatch ncbigene:3752 semapv:UnspecifiedMatching -OMIM:605412 RABL2A skos:exactMatch hgnc.symbol:9799 semapv:UnspecifiedMatching -OMIM:605412 RABL2A skos:exactMatch hgnc.symbol:RABL2A semapv:UnspecifiedMatching -OMIM:605412 RABL2A skos:exactMatch ncbigene:11159 semapv:UnspecifiedMatching -OMIM:605413 RABL2B skos:exactMatch hgnc.symbol:9800 semapv:UnspecifiedMatching -OMIM:605413 RABL2B skos:exactMatch hgnc.symbol:RABL2B semapv:UnspecifiedMatching -OMIM:605413 RABL2B skos:exactMatch ncbigene:11158 semapv:UnspecifiedMatching -OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:37 semapv:UnspecifiedMatching -OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:ABCA7 semapv:UnspecifiedMatching -OMIM:605414 ABCA7 skos:exactMatch ncbigene:10347 semapv:UnspecifiedMatching -OMIM:605415 DKK2 skos:exactMatch UMLS:C1414058 semapv:UnspecifiedMatching -OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:2892 semapv:UnspecifiedMatching -OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:DKK2 semapv:UnspecifiedMatching -OMIM:605415 DKK2 skos:exactMatch ncbigene:27123 semapv:UnspecifiedMatching -OMIM:605416 DKK3 skos:exactMatch UMLS:C1414059 semapv:UnspecifiedMatching -OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:2893 semapv:UnspecifiedMatching -OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:DKK3 semapv:UnspecifiedMatching -OMIM:605416 DKK3 skos:exactMatch ncbigene:27122 semapv:UnspecifiedMatching -OMIM:605417 DKK4 skos:exactMatch UMLS:C1414060 semapv:UnspecifiedMatching -OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:2894 semapv:UnspecifiedMatching -OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:DKK4 semapv:UnspecifiedMatching -OMIM:605417 DKK4 skos:exactMatch ncbigene:27121 semapv:UnspecifiedMatching -OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:16528 semapv:UnspecifiedMatching -OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:DKKL1 semapv:UnspecifiedMatching -OMIM:605418 DKKL1 skos:exactMatch ncbigene:27120 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch UMLS:C1412373 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch UMLS:C3809819 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:450 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:ALX4 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch ncbigene:60529 semapv:UnspecifiedMatching -OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:13202 semapv:UnspecifiedMatching -OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:ADAMTS9 semapv:UnspecifiedMatching -OMIM:605421 ADAMTS9 skos:exactMatch ncbigene:56999 semapv:UnspecifiedMatching -OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:16656 semapv:UnspecifiedMatching -OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:ZNF350 semapv:UnspecifiedMatching -OMIM:605422 ZNF350 skos:exactMatch ncbigene:59348 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch UMLS:C1414044 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch hgnc.symbol:2865 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch hgnc.symbol:DHH semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch ncbigene:50846 semapv:UnspecifiedMatching -OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:13632 semapv:UnspecifiedMatching -OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:MAML1 semapv:UnspecifiedMatching -OMIM:605424 MAML1 skos:exactMatch ncbigene:9794 semapv:UnspecifiedMatching -OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:4286 semapv:UnspecifiedMatching -OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:GJB4 semapv:UnspecifiedMatching -OMIM:605425 GJB4 skos:exactMatch ncbigene:127534 semapv:UnspecifiedMatching -OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:29984 semapv:UnspecifiedMatching -OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:TP53AIP1 semapv:UnspecifiedMatching -OMIM:605426 TP53AIP1 skos:exactMatch ncbigene:63970 semapv:UnspecifiedMatching -OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:18083 semapv:UnspecifiedMatching -OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:TRPV4 semapv:UnspecifiedMatching -OMIM:605427 TRPV4 skos:exactMatch ncbigene:59341 semapv:UnspecifiedMatching -OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:14524 semapv:UnspecifiedMatching -OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:SPAG9 semapv:UnspecifiedMatching -OMIM:605430 SPAG9 skos:exactMatch ncbigene:9043 semapv:UnspecifiedMatching -OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:6884 semapv:UnspecifiedMatching -OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:MAPK8IP3 semapv:UnspecifiedMatching -OMIM:605431 MAPK8IP3 skos:exactMatch ncbigene:23162 semapv:UnspecifiedMatching -OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:14566 semapv:UnspecifiedMatching -OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:KIF13A semapv:UnspecifiedMatching -OMIM:605433 KIF13A skos:exactMatch ncbigene:63971 semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch UMLS:C1426354 semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:19715 semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:CLSPN semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch ncbigene:63967 semapv:UnspecifiedMatching -OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:9407 semapv:UnspecifiedMatching -OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:PRKD1 semapv:UnspecifiedMatching -OMIM:605435 PRKD1 skos:exactMatch ncbigene:5587 semapv:UnspecifiedMatching -OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:33067 semapv:UnspecifiedMatching -OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:SNORD116-1 semapv:UnspecifiedMatching -OMIM:605436 SNORD116-1 skos:exactMatch ncbigene:100033413 semapv:UnspecifiedMatching -OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:9403 semapv:UnspecifiedMatching -OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:PRKCH semapv:UnspecifiedMatching -OMIM:605437 PRKCH skos:exactMatch ncbigene:5583 semapv:UnspecifiedMatching -OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:2906 semapv:UnspecifiedMatching -OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:DLGAP2 semapv:UnspecifiedMatching -OMIM:605438 DLGAP2 skos:exactMatch ncbigene:9228 semapv:UnspecifiedMatching -OMIM:605439 EHF skos:exactMatch hgnc.symbol:3246 semapv:UnspecifiedMatching -OMIM:605439 EHF skos:exactMatch hgnc.symbol:EHF semapv:UnspecifiedMatching -OMIM:605439 EHF skos:exactMatch ncbigene:26298 semapv:UnspecifiedMatching -OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:1237 semapv:UnspecifiedMatching -OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:UBQLN4 semapv:UnspecifiedMatching -OMIM:605440 UBQLN4 skos:exactMatch ncbigene:56893 semapv:UnspecifiedMatching -OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:13633 semapv:UnspecifiedMatching -OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:ADIPOQ semapv:UnspecifiedMatching -OMIM:605441 ADIPOQ skos:exactMatch ncbigene:9370 semapv:UnspecifiedMatching -OMIM:605442 WTAP skos:exactMatch hgnc.symbol:16846 semapv:UnspecifiedMatching -OMIM:605442 WTAP skos:exactMatch hgnc.symbol:WTAP semapv:UnspecifiedMatching -OMIM:605442 WTAP skos:exactMatch ncbigene:9589 semapv:UnspecifiedMatching -OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:30145 semapv:UnspecifiedMatching -OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:PCGEM1 semapv:UnspecifiedMatching -OMIM:605443 PCGEM1 skos:exactMatch ncbigene:64002 semapv:UnspecifiedMatching -OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:17886 semapv:UnspecifiedMatching -OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:RBMXL2 semapv:UnspecifiedMatching -OMIM:605444 RBMXL2 skos:exactMatch ncbigene:27288 semapv:UnspecifiedMatching -OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:2905 semapv:UnspecifiedMatching -OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:DLGAP1 semapv:UnspecifiedMatching -OMIM:605445 DLGAP1 skos:exactMatch ncbigene:9229 semapv:UnspecifiedMatching -OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:13436 semapv:UnspecifiedMatching -OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:RPGRIP1 semapv:UnspecifiedMatching -OMIM:605446 RPGRIP1 skos:exactMatch ncbigene:57096 semapv:UnspecifiedMatching -OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:19078 semapv:UnspecifiedMatching -OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:SNHG32 semapv:UnspecifiedMatching -OMIM:605447 SNHG32 skos:exactMatch ncbigene:50854 semapv:UnspecifiedMatching -OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:16984 semapv:UnspecifiedMatching -OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:RUNDC3A semapv:UnspecifiedMatching -OMIM:605448 RUNDC3A skos:exactMatch ncbigene:10900 semapv:UnspecifiedMatching -OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:4628 semapv:UnspecifiedMatching -OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:GSTA3 semapv:UnspecifiedMatching -OMIM:605449 GSTA3 skos:exactMatch ncbigene:2940 semapv:UnspecifiedMatching -OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:4629 semapv:UnspecifiedMatching -OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:GSTA4 semapv:UnspecifiedMatching -OMIM:605450 GSTA4 skos:exactMatch ncbigene:2941 semapv:UnspecifiedMatching -OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:16059 semapv:UnspecifiedMatching -OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:PAK4 semapv:UnspecifiedMatching -OMIM:605451 PAK4 skos:exactMatch ncbigene:10298 semapv:UnspecifiedMatching -OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:47 semapv:UnspecifiedMatching -OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:ABCB6 semapv:UnspecifiedMatching -OMIM:605452 ABCB6 skos:exactMatch ncbigene:10058 semapv:UnspecifiedMatching -OMIM:605453 ABCB9 skos:exactMatch UMLS:C1412075 semapv:UnspecifiedMatching -OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:50 semapv:UnspecifiedMatching -OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:ABCB9 semapv:UnspecifiedMatching -OMIM:605453 ABCB9 skos:exactMatch ncbigene:23457 semapv:UnspecifiedMatching -OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:41 semapv:UnspecifiedMatching -OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:ABCB10 semapv:UnspecifiedMatching -OMIM:605454 ABCB10 skos:exactMatch ncbigene:23456 semapv:UnspecifiedMatching -OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:14259 semapv:UnspecifiedMatching -OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:RAB26 semapv:UnspecifiedMatching -OMIM:605455 RAB26 skos:exactMatch ncbigene:25837 semapv:UnspecifiedMatching -OMIM:605456 BET1 skos:exactMatch hgnc.symbol:14562 semapv:UnspecifiedMatching -OMIM:605456 BET1 skos:exactMatch hgnc.symbol:BET1 semapv:UnspecifiedMatching -OMIM:605456 BET1 skos:exactMatch ncbigene:10282 semapv:UnspecifiedMatching -OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:13700 semapv:UnspecifiedMatching -OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:IL22RA1 semapv:UnspecifiedMatching -OMIM:605457 IL22RA1 skos:exactMatch ncbigene:58985 semapv:UnspecifiedMatching -OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:18015 semapv:UnspecifiedMatching -OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:IL17RB semapv:UnspecifiedMatching -OMIM:605458 IL17RB skos:exactMatch ncbigene:55540 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch UMLS:C1422255 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:13886 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:ABCG5 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch ncbigene:64240 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch UMLS:C1422256 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch UMLS:C1969115 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:13887 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:ABCG8 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch ncbigene:64241 semapv:UnspecifiedMatching -OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:5985 semapv:UnspecifiedMatching -OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:IL17RA semapv:UnspecifiedMatching -OMIM:605461 IL17RA skos:exactMatch ncbigene:23765 semapv:UnspecifiedMatching -OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:49 semapv:UnspecifiedMatching -OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:ABCB8 semapv:UnspecifiedMatching -OMIM:605464 ABCB8 skos:exactMatch ncbigene:11194 semapv:UnspecifiedMatching -OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:13070 semapv:UnspecifiedMatching -OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:ZNF277 semapv:UnspecifiedMatching -OMIM:605465 ZNF277 skos:exactMatch ncbigene:11179 semapv:UnspecifiedMatching -OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:15757 semapv:UnspecifiedMatching -OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:SIRPG semapv:UnspecifiedMatching -OMIM:605466 SIRPG skos:exactMatch ncbigene:55423 semapv:UnspecifiedMatching -OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:13068 semapv:UnspecifiedMatching -OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:ZNF274 semapv:UnspecifiedMatching -OMIM:605467 ZNF274 skos:exactMatch ncbigene:10782 semapv:UnspecifiedMatching -OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:17147 semapv:UnspecifiedMatching -OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:CDC42EP4 semapv:UnspecifiedMatching -OMIM:605468 CDC42EP4 skos:exactMatch ncbigene:23580 semapv:UnspecifiedMatching -OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:17071 semapv:UnspecifiedMatching -OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:KDM4C semapv:UnspecifiedMatching -OMIM:605469 KDM4C skos:exactMatch ncbigene:23081 semapv:UnspecifiedMatching -OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:14249 semapv:UnspecifiedMatching -OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:MMP26 semapv:UnspecifiedMatching -OMIM:605470 MMP26 skos:exactMatch ncbigene:56547 semapv:UnspecifiedMatching -OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:13180 semapv:UnspecifiedMatching -OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:ZFYVE1 semapv:UnspecifiedMatching -OMIM:605471 ZFYVE1 skos:exactMatch ncbigene:53349 semapv:UnspecifiedMatching -OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:12510 semapv:UnspecifiedMatching -OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:UBQLN3 semapv:UnspecifiedMatching -OMIM:605473 UBQLN3 skos:exactMatch ncbigene:50613 semapv:UnspecifiedMatching -OMIM:605474 TLR9 skos:exactMatch UMLS:C1423633 semapv:UnspecifiedMatching -OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:15633 semapv:UnspecifiedMatching -OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:TLR9 semapv:UnspecifiedMatching -OMIM:605474 TLR9 skos:exactMatch ncbigene:54106 semapv:UnspecifiedMatching -OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:947 semapv:UnspecifiedMatching -OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:BAIAP2 semapv:UnspecifiedMatching -OMIM:605475 BAIAP2 skos:exactMatch ncbigene:10458 semapv:UnspecifiedMatching -OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:16921 semapv:UnspecifiedMatching -OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:AGAP2 semapv:UnspecifiedMatching -OMIM:605476 AGAP2 skos:exactMatch ncbigene:116986 semapv:UnspecifiedMatching -OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:15607 semapv:UnspecifiedMatching -OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:ARHGEF7 semapv:UnspecifiedMatching -OMIM:605477 ARHGEF7 skos:exactMatch ncbigene:8874 semapv:UnspecifiedMatching -OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:30575 semapv:UnspecifiedMatching -OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:SIGIRR semapv:UnspecifiedMatching -OMIM:605478 SIGIRR skos:exactMatch ncbigene:59307 semapv:UnspecifiedMatching -OMIM:605481 ASPM skos:exactMatch hgnc.symbol:19048 semapv:UnspecifiedMatching -OMIM:605481 ASPM skos:exactMatch hgnc.symbol:ASPM semapv:UnspecifiedMatching -OMIM:605481 ASPM skos:exactMatch ncbigene:259266 semapv:UnspecifiedMatching -OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:13312 semapv:UnspecifiedMatching -OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:GSTO1 semapv:UnspecifiedMatching -OMIM:605482 GSTO1 skos:exactMatch ncbigene:9446 semapv:UnspecifiedMatching -OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:18744 semapv:UnspecifiedMatching -OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:DNAI2 semapv:UnspecifiedMatching -OMIM:605483 DNAI2 skos:exactMatch ncbigene:64446 semapv:UnspecifiedMatching -OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:24692 semapv:UnspecifiedMatching -OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:FCAMR semapv:UnspecifiedMatching -OMIM:605484 FCAMR skos:exactMatch ncbigene:83953 semapv:UnspecifiedMatching -OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:12713 semapv:UnspecifiedMatching -OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:VPS41 semapv:UnspecifiedMatching -OMIM:605485 VPS41 skos:exactMatch ncbigene:27072 semapv:UnspecifiedMatching -OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:16967 semapv:UnspecifiedMatching -OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:ARPP19 semapv:UnspecifiedMatching -OMIM:605487 ARPP19 skos:exactMatch ncbigene:10776 semapv:UnspecifiedMatching -OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:16968 semapv:UnspecifiedMatching -OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:ARPP21 semapv:UnspecifiedMatching -OMIM:605488 ARPP21 skos:exactMatch ncbigene:10777 semapv:UnspecifiedMatching -OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:14313 semapv:UnspecifiedMatching -OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:IFT81 semapv:UnspecifiedMatching -OMIM:605489 IFT81 skos:exactMatch ncbigene:28981 semapv:UnspecifiedMatching -OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:9479 semapv:UnspecifiedMatching -OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:LONP1 semapv:UnspecifiedMatching -OMIM:605490 LONP1 skos:exactMatch ncbigene:9361 semapv:UnspecifiedMatching -OMIM:605491 NEBL skos:exactMatch hgnc.symbol:16932 semapv:UnspecifiedMatching -OMIM:605491 NEBL skos:exactMatch hgnc.symbol:NEBL semapv:UnspecifiedMatching -OMIM:605491 NEBL skos:exactMatch ncbigene:10529 semapv:UnspecifiedMatching -OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:16914 semapv:UnspecifiedMatching -OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:LRRN2 semapv:UnspecifiedMatching -OMIM:605492 LRRN2 skos:exactMatch ncbigene:10446 semapv:UnspecifiedMatching -OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:10064 semapv:UnspecifiedMatching -OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:TRIM3 semapv:UnspecifiedMatching -OMIM:605493 TRIM3 skos:exactMatch ncbigene:10612 semapv:UnspecifiedMatching -OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:6157 semapv:UnspecifiedMatching -OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:ITGB3BP semapv:UnspecifiedMatching -OMIM:605494 ITGB3BP skos:exactMatch ncbigene:23421 semapv:UnspecifiedMatching -OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:10961 semapv:UnspecifiedMatching -OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:SLCO1B3 semapv:UnspecifiedMatching -OMIM:605495 SLCO1B3 skos:exactMatch ncbigene:28234 semapv:UnspecifiedMatching -OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:1858 semapv:UnspecifiedMatching -OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:CNTRL semapv:UnspecifiedMatching -OMIM:605496 CEP1 skos:exactMatch ncbigene:11064 semapv:UnspecifiedMatching -OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:2379 semapv:UnspecifiedMatching -OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:CRTAP semapv:UnspecifiedMatching -OMIM:605497 CRTAP skos:exactMatch ncbigene:10491 semapv:UnspecifiedMatching -OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:7212 semapv:UnspecifiedMatching -OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:KIF20B semapv:UnspecifiedMatching -OMIM:605498 MPHOSPH1 skos:exactMatch ncbigene:9585 semapv:UnspecifiedMatching -OMIM:605499 zw10 interactor, antisense skos:exactMatch UMLS:C1421870 semapv:UnspecifiedMatching -OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:7214 semapv:UnspecifiedMatching -OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:MPHOSPH6 semapv:UnspecifiedMatching -OMIM:605500 MPHOSPH6 skos:exactMatch ncbigene:10200 semapv:UnspecifiedMatching -OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:7215 semapv:UnspecifiedMatching -OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:MPHOSPH9 semapv:UnspecifiedMatching -OMIM:605501 MPHOSPH9 skos:exactMatch ncbigene:10198 semapv:UnspecifiedMatching -OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:13192 semapv:UnspecifiedMatching -OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:DNAJC2 semapv:UnspecifiedMatching -OMIM:605502 DNAJC2 skos:exactMatch ncbigene:27000 semapv:UnspecifiedMatching -OMIM:605503 MPHOSPH10 skos:exactMatch hgnc.symbol:7213 semapv:UnspecifiedMatching -OMIM:605503 MPHOSPH10 skos:exactMatch hgnc.symbol:MPHOSPH10 semapv:UnspecifiedMatching -OMIM:605503 MPHOSPH10 skos:exactMatch ncbigene:10199 semapv:UnspecifiedMatching -OMIM:605504 KLK9 skos:exactMatch hgnc.symbol:6370 semapv:UnspecifiedMatching -OMIM:605504 KLK9 skos:exactMatch hgnc.symbol:KLK9 semapv:UnspecifiedMatching -OMIM:605504 KLK9 skos:exactMatch ncbigene:284366 semapv:UnspecifiedMatching -OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:6361 semapv:UnspecifiedMatching -OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:KLK13 semapv:UnspecifiedMatching -OMIM:605505 KLK13 skos:exactMatch ncbigene:26085 semapv:UnspecifiedMatching -OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:12711 semapv:UnspecifiedMatching -OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:VPS26A semapv:UnspecifiedMatching -OMIM:605506 VPS26A skos:exactMatch ncbigene:9559 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch UMLS:C1423573 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:15561 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:IL36RN semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch ncbigene:26525 semapv:UnspecifiedMatching -OMIM:605508 IL36B skos:exactMatch hgnc.symbol:15564 semapv:UnspecifiedMatching -OMIM:605508 IL36B skos:exactMatch hgnc.symbol:IL36B semapv:UnspecifiedMatching -OMIM:605508 IL36B skos:exactMatch ncbigene:27177 semapv:UnspecifiedMatching -OMIM:605509 IL36A skos:exactMatch hgnc.symbol:15562 semapv:UnspecifiedMatching -OMIM:605509 IL36A skos:exactMatch hgnc.symbol:IL36A semapv:UnspecifiedMatching -OMIM:605509 IL36A skos:exactMatch ncbigene:27179 semapv:UnspecifiedMatching -OMIM:605510 IL37 skos:exactMatch hgnc.symbol:15563 semapv:UnspecifiedMatching -OMIM:605510 IL37 skos:exactMatch hgnc.symbol:IL37 semapv:UnspecifiedMatching -OMIM:605510 IL37 skos:exactMatch ncbigene:27178 semapv:UnspecifiedMatching -OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:11877 semapv:UnspecifiedMatching -OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:TMPRSS3 semapv:UnspecifiedMatching -OMIM:605511 TMPRSS3 skos:exactMatch ncbigene:64699 semapv:UnspecifiedMatching -OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:14415 semapv:UnspecifiedMatching -OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:ELOVL4 semapv:UnspecifiedMatching -OMIM:605512 ELOVL4 skos:exactMatch ncbigene:6785 semapv:UnspecifiedMatching -OMIM:605513 MLANA skos:exactMatch hgnc.symbol:7124 semapv:UnspecifiedMatching -OMIM:605513 MLANA skos:exactMatch hgnc.symbol:MLANA semapv:UnspecifiedMatching -OMIM:605513 MLANA skos:exactMatch ncbigene:2315 semapv:UnspecifiedMatching -OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:14674 semapv:UnspecifiedMatching -OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:PCDH15 semapv:UnspecifiedMatching -OMIM:605514 PCDH15 skos:exactMatch ncbigene:65217 semapv:UnspecifiedMatching -OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:3823 semapv:UnspecifiedMatching -OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:FOXP1 semapv:UnspecifiedMatching -OMIM:605515 FOXP1 skos:exactMatch ncbigene:27086 semapv:UnspecifiedMatching -OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:13733 semapv:UnspecifiedMatching -OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:CDH23 semapv:UnspecifiedMatching -OMIM:605516 CDH23 skos:exactMatch ncbigene:64072 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch UMLS:C1423631 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch UMLS:C3809042 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:15685 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:B4GAT1 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch ncbigene:11041 semapv:UnspecifiedMatching -OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:13345 semapv:UnspecifiedMatching -OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:LPIN1 semapv:UnspecifiedMatching -OMIM:605518 LPIN1 skos:exactMatch ncbigene:23175 semapv:UnspecifiedMatching -OMIM:605519 LPIN2 skos:exactMatch hgnc.symbol:14450 semapv:UnspecifiedMatching -OMIM:605519 LPIN2 skos:exactMatch hgnc.symbol:LPIN2 semapv:UnspecifiedMatching -OMIM:605519 LPIN2 skos:exactMatch ncbigene:9663 semapv:UnspecifiedMatching -OMIM:605520 LPIN3 skos:exactMatch hgnc.symbol:14451 semapv:UnspecifiedMatching -OMIM:605520 LPIN3 skos:exactMatch hgnc.symbol:LPIN3 semapv:UnspecifiedMatching -OMIM:605520 LPIN3 skos:exactMatch ncbigene:64900 semapv:UnspecifiedMatching -OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:11589 semapv:UnspecifiedMatching -OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:TBPL1 semapv:UnspecifiedMatching -OMIM:605521 TBPL1 skos:exactMatch ncbigene:9519 semapv:UnspecifiedMatching -OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:13243 semapv:UnspecifiedMatching -OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:LMBR1 semapv:UnspecifiedMatching -OMIM:605522 LMBR1 skos:exactMatch ncbigene:64327 semapv:UnspecifiedMatching -OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:11979 semapv:UnspecifiedMatching -OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:TOB1 semapv:UnspecifiedMatching -OMIM:605523 TOB1 skos:exactMatch ncbigene:10140 semapv:UnspecifiedMatching -OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:24576 semapv:UnspecifiedMatching -OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:CDT1 semapv:UnspecifiedMatching -OMIM:605525 CDT1 skos:exactMatch ncbigene:81620 semapv:UnspecifiedMatching -OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:6905 semapv:UnspecifiedMatching -OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:MAT2B semapv:UnspecifiedMatching -OMIM:605527 MAT2B skos:exactMatch ncbigene:27430 semapv:UnspecifiedMatching -OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:7759 semapv:UnspecifiedMatching -OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:NEU2 semapv:UnspecifiedMatching -OMIM:605528 NEU2 skos:exactMatch ncbigene:4759 semapv:UnspecifiedMatching -OMIM:605529 UPF2 skos:exactMatch UMLS:C1425133 semapv:UnspecifiedMatching -OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:17854 semapv:UnspecifiedMatching -OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:UPF2 semapv:UnspecifiedMatching -OMIM:605529 UPF2 skos:exactMatch ncbigene:26019 semapv:UnspecifiedMatching -OMIM:605530 UPF3A skos:exactMatch UMLS:C1426867 semapv:UnspecifiedMatching -OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:20332 semapv:UnspecifiedMatching -OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:UPF3A semapv:UnspecifiedMatching -OMIM:605530 UPF3A skos:exactMatch ncbigene:65110 semapv:UnspecifiedMatching -OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:16809 semapv:UnspecifiedMatching -OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:SMURF2 semapv:UnspecifiedMatching -OMIM:605532 SMURF2 skos:exactMatch ncbigene:64750 semapv:UnspecifiedMatching -OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:7999 semapv:UnspecifiedMatching -OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:NRG3 semapv:UnspecifiedMatching -OMIM:605533 NRG3 skos:exactMatch ncbigene:10718 semapv:UnspecifiedMatching -OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:5001 semapv:UnspecifiedMatching -OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:HMG20A semapv:UnspecifiedMatching -OMIM:605534 HMG20A skos:exactMatch ncbigene:10363 semapv:UnspecifiedMatching -OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:5002 semapv:UnspecifiedMatching -OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:HMG20B semapv:UnspecifiedMatching -OMIM:605535 HMG20B skos:exactMatch ncbigene:10362 semapv:UnspecifiedMatching -OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:24845 semapv:UnspecifiedMatching -OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:RAB11FIP5 semapv:UnspecifiedMatching -OMIM:605536 RAB11FIP5 skos:exactMatch ncbigene:26056 semapv:UnspecifiedMatching -OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:791 semapv:UnspecifiedMatching -OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:ATF6 semapv:UnspecifiedMatching -OMIM:605537 ATF6 skos:exactMatch ncbigene:22926 semapv:UnspecifiedMatching -OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:8040 semapv:UnspecifiedMatching -OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:NTSR2 semapv:UnspecifiedMatching -OMIM:605538 NTSR2 skos:exactMatch ncbigene:23620 semapv:UnspecifiedMatching -OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:6360 semapv:UnspecifiedMatching -OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:KLK12 semapv:UnspecifiedMatching -OMIM:605539 KLK12 skos:exactMatch ncbigene:43849 semapv:UnspecifiedMatching -OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:30758 semapv:UnspecifiedMatching -OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:TENT4B semapv:UnspecifiedMatching -OMIM:605540 TENT4B skos:exactMatch ncbigene:64282 semapv:UnspecifiedMatching -OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:12659 semapv:UnspecifiedMatching -OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:VAV3 semapv:UnspecifiedMatching -OMIM:605541 VAV3 skos:exactMatch ncbigene:10451 semapv:UnspecifiedMatching -OMIM:605542 IL36G skos:exactMatch hgnc.symbol:15741 semapv:UnspecifiedMatching -OMIM:605542 IL36G skos:exactMatch hgnc.symbol:IL36G semapv:UnspecifiedMatching -OMIM:605542 IL36G skos:exactMatch ncbigene:56300 semapv:UnspecifiedMatching -OMIM:605545 CD163 skos:exactMatch hgnc.symbol:1631 semapv:UnspecifiedMatching -OMIM:605545 CD163 skos:exactMatch hgnc.symbol:CD163 semapv:UnspecifiedMatching -OMIM:605545 CD163 skos:exactMatch ncbigene:9332 semapv:UnspecifiedMatching -OMIM:605546 GP6 skos:exactMatch hgnc.symbol:14388 semapv:UnspecifiedMatching -OMIM:605546 GP6 skos:exactMatch hgnc.symbol:GP6 semapv:UnspecifiedMatching -OMIM:605546 GP6 skos:exactMatch ncbigene:51206 semapv:UnspecifiedMatching -OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:3972 semapv:UnspecifiedMatching -OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:FSTL1 semapv:UnspecifiedMatching -OMIM:605547 FSTL1 skos:exactMatch ncbigene:11167 semapv:UnspecifiedMatching -OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:193 semapv:UnspecifiedMatching -OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:ADAM15 semapv:UnspecifiedMatching -OMIM:605548 ADAM15 skos:exactMatch ncbigene:8751 semapv:UnspecifiedMatching -OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:15828 semapv:UnspecifiedMatching -OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:RASD1 semapv:UnspecifiedMatching -OMIM:605550 RASD1 skos:exactMatch ncbigene:51655 semapv:UnspecifiedMatching -OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:16859 semapv:UnspecifiedMatching -OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:NOS1AP semapv:UnspecifiedMatching -OMIM:605551 NOS1AP skos:exactMatch ncbigene:9722 semapv:UnspecifiedMatching -OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:14981 semapv:UnspecifiedMatching -OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:PAPOLA semapv:UnspecifiedMatching -OMIM:605553 PAPOLA skos:exactMatch ncbigene:10914 semapv:UnspecifiedMatching -OMIM:605554 CD244 skos:exactMatch hgnc.symbol:18171 semapv:UnspecifiedMatching -OMIM:605554 CD244 skos:exactMatch hgnc.symbol:CD244 semapv:UnspecifiedMatching -OMIM:605554 CD244 skos:exactMatch ncbigene:51744 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch UMLS:C1412302 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch UMLS:C1863340 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch UMLS:C4538355 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch UMLS:C4540568 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch hgnc.symbol:358 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch hgnc.symbol:AIP semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch ncbigene:9049 semapv:UnspecifiedMatching -OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:13811 semapv:UnspecifiedMatching -OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:SLC4A10 semapv:UnspecifiedMatching -OMIM:605556 SLC4A10 skos:exactMatch ncbigene:57282 semapv:UnspecifiedMatching -OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:14000 semapv:UnspecifiedMatching -OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:PRDM16 semapv:UnspecifiedMatching -OMIM:605557 PRDM16 skos:exactMatch ncbigene:63976 semapv:UnspecifiedMatching -OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:3677 semapv:UnspecifiedMatching -OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:FGF20 semapv:UnspecifiedMatching -OMIM:605558 FGF20 skos:exactMatch ncbigene:26281 semapv:UnspecifiedMatching -OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:5123 semapv:UnspecifiedMatching -OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:HOXC11 semapv:UnspecifiedMatching -OMIM:605559 HOXC11 skos:exactMatch ncbigene:3227 semapv:UnspecifiedMatching -OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:5122 semapv:UnspecifiedMatching -OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:HOXC10 semapv:UnspecifiedMatching -OMIM:605560 HOXC10 skos:exactMatch ncbigene:3226 semapv:UnspecifiedMatching -OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:9025 semapv:UnspecifiedMatching -OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:PKP3 semapv:UnspecifiedMatching -OMIM:605561 PKP3 skos:exactMatch ncbigene:11187 semapv:UnspecifiedMatching -OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:7050 semapv:UnspecifiedMatching -OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:SCGB2A2 semapv:UnspecifiedMatching -OMIM:605562 SCGB2A2 skos:exactMatch ncbigene:4250 semapv:UnspecifiedMatching -OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:1384 semapv:UnspecifiedMatching -OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:CABP1 semapv:UnspecifiedMatching -OMIM:605563 CABP1 skos:exactMatch ncbigene:9478 semapv:UnspecifiedMatching -OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:24579 semapv:UnspecifiedMatching -OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:CIB2 semapv:UnspecifiedMatching -OMIM:605564 CIB2 skos:exactMatch ncbigene:10518 semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch UMLS:C1426906 semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch UMLS:C1854174 semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch hgnc.symbol:20389 semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch hgnc.symbol:RETN semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch ncbigene:56729 semapv:UnspecifiedMatching -OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:18601 semapv:UnspecifiedMatching -OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:RTN4R semapv:UnspecifiedMatching -OMIM:605566 RTN4R skos:exactMatch ncbigene:65078 semapv:UnspecifiedMatching -OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:17712 semapv:UnspecifiedMatching -OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:SIVA1 semapv:UnspecifiedMatching -OMIM:605567 SIVA1 skos:exactMatch ncbigene:10572 semapv:UnspecifiedMatching -OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:16807 semapv:UnspecifiedMatching -OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:SMURF1 semapv:UnspecifiedMatching -OMIM:605568 SMURF1 skos:exactMatch ncbigene:57154 semapv:UnspecifiedMatching -OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:4523 semapv:UnspecifiedMatching -OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:GPR83 semapv:UnspecifiedMatching -OMIM:605569 GPR83 skos:exactMatch ncbigene:10888 semapv:UnspecifiedMatching -OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:9760 semapv:UnspecifiedMatching -OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:RAB11A semapv:UnspecifiedMatching -OMIM:605570 RAB11A skos:exactMatch ncbigene:8766 semapv:UnspecifiedMatching -OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:9007 semapv:UnspecifiedMatching -OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:PIWIL1 semapv:UnspecifiedMatching -OMIM:605571 PIWIL1 skos:exactMatch ncbigene:9271 semapv:UnspecifiedMatching -OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:5212 semapv:UnspecifiedMatching -OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:HSD17B3 semapv:UnspecifiedMatching -OMIM:605573 HSD17B3 skos:exactMatch ncbigene:3293 semapv:UnspecifiedMatching -OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:15937 semapv:UnspecifiedMatching -OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:UBE2C semapv:UnspecifiedMatching -OMIM:605574 UBE2C skos:exactMatch ncbigene:11065 semapv:UnspecifiedMatching -OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:14013 semapv:UnspecifiedMatching -OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:SMC4 semapv:UnspecifiedMatching -OMIM:605575 SMC4 skos:exactMatch ncbigene:10051 semapv:UnspecifiedMatching -OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:14011 semapv:UnspecifiedMatching -OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:SMC2 semapv:UnspecifiedMatching -OMIM:605576 SMC2 skos:exactMatch ncbigene:10592 semapv:UnspecifiedMatching -OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:9879 semapv:UnspecifiedMatching -OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:RASGRP2 semapv:UnspecifiedMatching -OMIM:605577 RASGRP2 skos:exactMatch ncbigene:10235 semapv:UnspecifiedMatching -OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:5413 semapv:UnspecifiedMatching -OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:IFITM2 semapv:UnspecifiedMatching -OMIM:605578 IFITM2 skos:exactMatch ncbigene:10581 semapv:UnspecifiedMatching -OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:5414 semapv:UnspecifiedMatching -OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:IFITM3 semapv:UnspecifiedMatching -OMIM:605579 IFITM3 skos:exactMatch ncbigene:10410 semapv:UnspecifiedMatching -OMIM:605580 IL23A skos:exactMatch hgnc.symbol:15488 semapv:UnspecifiedMatching -OMIM:605580 IL23A skos:exactMatch hgnc.symbol:IL23A semapv:UnspecifiedMatching -OMIM:605580 IL23A skos:exactMatch ncbigene:51561 semapv:UnspecifiedMatching -OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:15629 semapv:UnspecifiedMatching -OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:B3GNT2 semapv:UnspecifiedMatching -OMIM:605581 B3GNT2 skos:exactMatch ncbigene:10678 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch UMLS:C1424825 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:17211 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:DHX38 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch ncbigene:9785 semapv:UnspecifiedMatching -OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:17350 semapv:UnspecifiedMatching -OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:CDC40 semapv:UnspecifiedMatching -OMIM:605585 CDC40 skos:exactMatch ncbigene:51362 semapv:UnspecifiedMatching -OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:9852 semapv:UnspecifiedMatching -OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:IPO7 semapv:UnspecifiedMatching -OMIM:605586 IPO7 skos:exactMatch ncbigene:10527 semapv:UnspecifiedMatching -OMIM:605587 PI14 skos:exactMatch hgnc.symbol:8945 semapv:UnspecifiedMatching -OMIM:605587 PI14 skos:exactMatch hgnc.symbol:SERPINI2 semapv:UnspecifiedMatching -OMIM:605587 PI14 skos:exactMatch ncbigene:5276 semapv:UnspecifiedMatching -OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching -OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching -OMIM:605590 SF3B1 skos:exactMatch UMLS:C1419980 semapv:UnspecifiedMatching -OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:10768 semapv:UnspecifiedMatching -OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:SF3B1 semapv:UnspecifiedMatching -OMIM:605590 SF3B1 skos:exactMatch ncbigene:23451 semapv:UnspecifiedMatching -OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:10769 semapv:UnspecifiedMatching -OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:SF3B2 semapv:UnspecifiedMatching -OMIM:605591 SF3B2 skos:exactMatch ncbigene:10992 semapv:UnspecifiedMatching -OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:10770 semapv:UnspecifiedMatching -OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:SF3B3 semapv:UnspecifiedMatching -OMIM:605592 SF3B3 skos:exactMatch ncbigene:23450 semapv:UnspecifiedMatching -OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:10771 semapv:UnspecifiedMatching -OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:SF3B4 semapv:UnspecifiedMatching -OMIM:605593 SF3B4 skos:exactMatch ncbigene:10262 semapv:UnspecifiedMatching -OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:10765 semapv:UnspecifiedMatching -OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:SF3A1 semapv:UnspecifiedMatching -OMIM:605595 SF3A1 skos:exactMatch ncbigene:10291 semapv:UnspecifiedMatching -OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:10767 semapv:UnspecifiedMatching -OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:SF3A3 semapv:UnspecifiedMatching -OMIM:605596 SF3A3 skos:exactMatch ncbigene:10946 semapv:UnspecifiedMatching -OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:1092 semapv:UnspecifiedMatching -OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:FOXL2 semapv:UnspecifiedMatching -OMIM:605597 FOXL2 skos:exactMatch ncbigene:668 semapv:UnspecifiedMatching -OMIM:605598 iia 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching -OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:6737 semapv:UnspecifiedMatching -OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:LYPLA1 semapv:UnspecifiedMatching -OMIM:605599 LYPLA1 skos:exactMatch ncbigene:10434 semapv:UnspecifiedMatching -OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:9853 semapv:UnspecifiedMatching -OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:IPO8 semapv:UnspecifiedMatching -OMIM:605600 IPO8 skos:exactMatch ncbigene:10526 semapv:UnspecifiedMatching -OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:9362 semapv:UnspecifiedMatching -OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:PRG2 semapv:UnspecifiedMatching -OMIM:605601 PRG2 skos:exactMatch ncbigene:5553 semapv:UnspecifiedMatching -OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:1330 semapv:UnspecifiedMatching -OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:MYOZ2 semapv:UnspecifiedMatching -OMIM:605602 MYOZ2 skos:exactMatch ncbigene:51778 semapv:UnspecifiedMatching -OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:13752 semapv:UnspecifiedMatching -OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:MYOZ1 semapv:UnspecifiedMatching -OMIM:605603 MYOZ1 skos:exactMatch ncbigene:58529 semapv:UnspecifiedMatching -OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:17970 semapv:UnspecifiedMatching -OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:PAIP2 semapv:UnspecifiedMatching -OMIM:605604 PAIP2 skos:exactMatch ncbigene:51247 semapv:UnspecifiedMatching -OMIM:605607 CENPH skos:exactMatch hgnc.symbol:17268 semapv:UnspecifiedMatching -OMIM:605607 CENPH skos:exactMatch hgnc.symbol:CENPH semapv:UnspecifiedMatching -OMIM:605607 CENPH skos:exactMatch ncbigene:64946 semapv:UnspecifiedMatching -OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:2035 semapv:UnspecifiedMatching -OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:CLDN14 semapv:UnspecifiedMatching -OMIM:605608 CLDN14 skos:exactMatch ncbigene:23562 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch UMLS:C1423755 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:15822 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:OXR1 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch ncbigene:55074 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch UMLS:C1418707 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch hgnc.symbol:9154 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch hgnc.symbol:PNKP semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch ncbigene:11284 semapv:UnspecifiedMatching -OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:10826 semapv:UnspecifiedMatching -OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:SH3BP4 semapv:UnspecifiedMatching -OMIM:605611 SH3BP4 skos:exactMatch ncbigene:23677 semapv:UnspecifiedMatching -OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:10827 semapv:UnspecifiedMatching -OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:SH3BP5 semapv:UnspecifiedMatching -OMIM:605612 SH3BP5 skos:exactMatch ncbigene:9467 semapv:UnspecifiedMatching -OMIM:605613 HIP1R skos:exactMatch hgnc.symbol:18415 semapv:UnspecifiedMatching -OMIM:605613 HIP1R skos:exactMatch hgnc.symbol:HIP1R semapv:UnspecifiedMatching -OMIM:605613 HIP1R skos:exactMatch ncbigene:9026 semapv:UnspecifiedMatching -OMIM:605614 GCN1 skos:exactMatch UMLS:C1415018 semapv:UnspecifiedMatching -OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:4199 semapv:UnspecifiedMatching -OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:GCN1 semapv:UnspecifiedMatching -OMIM:605614 GCN1 skos:exactMatch ncbigene:10985 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch UMLS:C1412534 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:690 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:ARIH2 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch ncbigene:10425 semapv:UnspecifiedMatching -OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:30927 semapv:UnspecifiedMatching -OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:SLC6A20 semapv:UnspecifiedMatching -OMIM:605616 SLC6A20 skos:exactMatch ncbigene:54716 semapv:UnspecifiedMatching -OMIM:605619 IL20 skos:exactMatch hgnc.symbol:6002 semapv:UnspecifiedMatching -OMIM:605619 IL20 skos:exactMatch hgnc.symbol:IL20 semapv:UnspecifiedMatching -OMIM:605619 IL20 skos:exactMatch ncbigene:50604 semapv:UnspecifiedMatching -OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:6003 semapv:UnspecifiedMatching -OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:IL20RA semapv:UnspecifiedMatching -OMIM:605620 IL20RA skos:exactMatch ncbigene:53832 semapv:UnspecifiedMatching -OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:6004 semapv:UnspecifiedMatching -OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:IL20RB semapv:UnspecifiedMatching -OMIM:605621 IL20RB skos:exactMatch ncbigene:53833 semapv:UnspecifiedMatching -OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:8657 semapv:UnspecifiedMatching -OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:PCDH12 semapv:UnspecifiedMatching -OMIM:605622 PCDH12 skos:exactMatch ncbigene:51294 semapv:UnspecifiedMatching -OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:7109 semapv:UnspecifiedMatching -OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:MKLN1 semapv:UnspecifiedMatching -OMIM:605623 MKLN1 skos:exactMatch ncbigene:4289 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch UMLS:C1412533 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:689 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:ARIH1 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch ncbigene:25820 semapv:UnspecifiedMatching -OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:7563 semapv:UnspecifiedMatching -OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:MYEOV semapv:UnspecifiedMatching -OMIM:605625 MYEOV skos:exactMatch ncbigene:26579 semapv:UnspecifiedMatching -OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:13915 semapv:UnspecifiedMatching -OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:ERVK-6 semapv:UnspecifiedMatching -OMIM:605626 ERVK-6 skos:exactMatch ncbigene:64006 semapv:UnspecifiedMatching -OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:16637 semapv:UnspecifiedMatching -OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:HTATIP2 semapv:UnspecifiedMatching -OMIM:605628 HTATIP2 skos:exactMatch ncbigene:10553 semapv:UnspecifiedMatching -OMIM:605629 CIT skos:exactMatch hgnc.symbol:1985 semapv:UnspecifiedMatching -OMIM:605629 CIT skos:exactMatch hgnc.symbol:CIT semapv:UnspecifiedMatching -OMIM:605629 CIT skos:exactMatch ncbigene:11113 semapv:UnspecifiedMatching -OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:9033 semapv:UnspecifiedMatching -OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:PLA2G2D semapv:UnspecifiedMatching -OMIM:605630 PLA2G2D skos:exactMatch ncbigene:26279 semapv:UnspecifiedMatching -OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:13395 semapv:UnspecifiedMatching -OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:NAPSA semapv:UnspecifiedMatching -OMIM:605631 NAPSA skos:exactMatch ncbigene:9476 semapv:UnspecifiedMatching -OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:11023 semapv:UnspecifiedMatching -OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:SLC35A3 semapv:UnspecifiedMatching -OMIM:605632 SLC35A3 skos:exactMatch ncbigene:23443 semapv:UnspecifiedMatching -OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:13384 semapv:UnspecifiedMatching -OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:MUC3B semapv:UnspecifiedMatching -OMIM:605633 MUC3B skos:exactMatch ncbigene:57876 semapv:UnspecifiedMatching -OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:11021 semapv:UnspecifiedMatching -OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:SLC35A1 semapv:UnspecifiedMatching -OMIM:605634 SLC35A1 skos:exactMatch ncbigene:10559 semapv:UnspecifiedMatching -OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:14575 semapv:UnspecifiedMatching -OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:MEG3 semapv:UnspecifiedMatching -OMIM:605636 MEG3 skos:exactMatch ncbigene:55384 semapv:UnspecifiedMatching -OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching -OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching -OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching -OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:13516 semapv:UnspecifiedMatching -OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:BIRC6 semapv:UnspecifiedMatching -OMIM:605638 BIRC6 skos:exactMatch ncbigene:57448 semapv:UnspecifiedMatching -OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:10877 semapv:UnspecifiedMatching -OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:SIGLEC8 semapv:UnspecifiedMatching -OMIM:605639 SIGLEC8 skos:exactMatch ncbigene:27181 semapv:UnspecifiedMatching -OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:10878 semapv:UnspecifiedMatching -OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:SIGLEC9 semapv:UnspecifiedMatching -OMIM:605640 SIGLEC9 skos:exactMatch ncbigene:27180 semapv:UnspecifiedMatching -OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:11064 semapv:UnspecifiedMatching -OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:SLC7A6 semapv:UnspecifiedMatching -OMIM:605641 SLC7A6 skos:exactMatch ncbigene:9057 semapv:UnspecifiedMatching -OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:6366 semapv:UnspecifiedMatching -OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:KLK5 semapv:UnspecifiedMatching -OMIM:605643 KLK5 skos:exactMatch ncbigene:25818 semapv:UnspecifiedMatching -OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:6369 semapv:UnspecifiedMatching -OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:KLK8 semapv:UnspecifiedMatching -OMIM:605644 KLK8 skos:exactMatch ncbigene:11202 semapv:UnspecifiedMatching -OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:20388 semapv:UnspecifiedMatching -OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:RETNLB semapv:UnspecifiedMatching -OMIM:605645 RETNLB skos:exactMatch ncbigene:84666 semapv:UnspecifiedMatching -OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:8818 semapv:UnspecifiedMatching -OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:SLC26A4 semapv:UnspecifiedMatching -OMIM:605646 SLC26A4 skos:exactMatch ncbigene:5172 semapv:UnspecifiedMatching -OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:13585 semapv:UnspecifiedMatching -OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:FBXO6 semapv:UnspecifiedMatching -OMIM:605647 FBXO6 skos:exactMatch ncbigene:26270 semapv:UnspecifiedMatching -OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:13586 semapv:UnspecifiedMatching -OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:FBXO7 semapv:UnspecifiedMatching -OMIM:605648 FBXO7 skos:exactMatch ncbigene:25793 semapv:UnspecifiedMatching -OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:13587 semapv:UnspecifiedMatching -OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:FBXO8 semapv:UnspecifiedMatching -OMIM:605649 FBXO8 skos:exactMatch ncbigene:26269 semapv:UnspecifiedMatching -OMIM:605650 POLK skos:exactMatch hgnc.symbol:9183 semapv:UnspecifiedMatching -OMIM:605650 POLK skos:exactMatch hgnc.symbol:POLK semapv:UnspecifiedMatching -OMIM:605650 POLK skos:exactMatch ncbigene:51426 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch UMLS:C1539505 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854075 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854076 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:13607 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:FBXW11 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch ncbigene:23291 semapv:UnspecifiedMatching -OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:13598 semapv:UnspecifiedMatching -OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:FBXL2 semapv:UnspecifiedMatching -OMIM:605652 FBXL2 skos:exactMatch ncbigene:25827 semapv:UnspecifiedMatching -OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:13599 semapv:UnspecifiedMatching -OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:FBXL3 semapv:UnspecifiedMatching -OMIM:605653 FBXL3 skos:exactMatch ncbigene:26224 semapv:UnspecifiedMatching -OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:13601 semapv:UnspecifiedMatching -OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:FBXL4 semapv:UnspecifiedMatching -OMIM:605654 FBXL4 skos:exactMatch ncbigene:26235 semapv:UnspecifiedMatching -OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:13602 semapv:UnspecifiedMatching -OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:FBXL5 semapv:UnspecifiedMatching -OMIM:605655 FBXL5 skos:exactMatch ncbigene:26234 semapv:UnspecifiedMatching -OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:13604 semapv:UnspecifiedMatching -OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:FBXL7 semapv:UnspecifiedMatching -OMIM:605656 FBXL7 skos:exactMatch ncbigene:23194 semapv:UnspecifiedMatching -OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:13606 semapv:UnspecifiedMatching -OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:KDM2A semapv:UnspecifiedMatching -OMIM:605657 KDM2A skos:exactMatch ncbigene:22992 semapv:UnspecifiedMatching -OMIM:605658 IL25 skos:exactMatch hgnc.symbol:13765 semapv:UnspecifiedMatching -OMIM:605658 IL25 skos:exactMatch hgnc.symbol:IL25 semapv:UnspecifiedMatching -OMIM:605658 IL25 skos:exactMatch ncbigene:64806 semapv:UnspecifiedMatching -OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:14351 semapv:UnspecifiedMatching -OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:CLEC2D semapv:UnspecifiedMatching -OMIM:605659 CLEC2D skos:exactMatch ncbigene:29121 semapv:UnspecifiedMatching -OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:4926 semapv:UnspecifiedMatching -OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:PFDN6 semapv:UnspecifiedMatching -OMIM:605660 PFDN6 skos:exactMatch ncbigene:10471 semapv:UnspecifiedMatching -OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:9976 semapv:UnspecifiedMatching -OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:TRIM13 semapv:UnspecifiedMatching -OMIM:605661 TRIM13 skos:exactMatch ncbigene:10206 semapv:UnspecifiedMatching -OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:9775 semapv:UnspecifiedMatching -OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:RAB36 semapv:UnspecifiedMatching -OMIM:605662 RAB36 skos:exactMatch ncbigene:9609 semapv:UnspecifiedMatching -OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:13437 semapv:UnspecifiedMatching -OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:RSPH14 semapv:UnspecifiedMatching -OMIM:605663 RSPH14 skos:exactMatch ncbigene:27156 semapv:UnspecifiedMatching -OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:9787 semapv:UnspecifiedMatching -OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:KIF20A semapv:UnspecifiedMatching -OMIM:605664 KIF20A skos:exactMatch ncbigene:10112 semapv:UnspecifiedMatching -OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:18274 semapv:UnspecifiedMatching -OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:CYSLTR2 semapv:UnspecifiedMatching -OMIM:605666 CYSLTR2 skos:exactMatch ncbigene:57105 semapv:UnspecifiedMatching -OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:30281 semapv:UnspecifiedMatching -OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:RGL1 semapv:UnspecifiedMatching -OMIM:605667 RGL1 skos:exactMatch ncbigene:23179 semapv:UnspecifiedMatching -OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:934 semapv:UnspecifiedMatching -OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:BACE2 semapv:UnspecifiedMatching -OMIM:605668 BACE2 skos:exactMatch ncbigene:25825 semapv:UnspecifiedMatching -OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:21079 semapv:UnspecifiedMatching -OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:PBOV1 semapv:UnspecifiedMatching -OMIM:605669 PBOV1 skos:exactMatch ncbigene:59351 semapv:UnspecifiedMatching -OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:2937 semapv:UnspecifiedMatching -OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:DMXL1 semapv:UnspecifiedMatching -OMIM:605671 DMXL1 skos:exactMatch ncbigene:1657 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch UMLS:C1422240 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:13862 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:BTG4 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch ncbigene:54766 semapv:UnspecifiedMatching -OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:1132 semapv:UnspecifiedMatching -OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:BTG3 semapv:UnspecifiedMatching -OMIM:605674 BTG3 skos:exactMatch ncbigene:10950 semapv:UnspecifiedMatching -OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:10058 semapv:UnspecifiedMatching -OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:RNF14 semapv:UnspecifiedMatching -OMIM:605675 RNF14 skos:exactMatch ncbigene:9604 semapv:UnspecifiedMatching -OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:16526 semapv:UnspecifiedMatching -OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:ACSL5 semapv:UnspecifiedMatching -OMIM:605677 ACSL5 skos:exactMatch ncbigene:51703 semapv:UnspecifiedMatching -OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:12744 semapv:UnspecifiedMatching -OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:MLXIPL semapv:UnspecifiedMatching -OMIM:605678 MLXIPL skos:exactMatch ncbigene:51085 semapv:UnspecifiedMatching -OMIM:605679 IL26 skos:exactMatch hgnc.symbol:17119 semapv:UnspecifiedMatching -OMIM:605679 IL26 skos:exactMatch hgnc.symbol:IL26 semapv:UnspecifiedMatching -OMIM:605679 IL26 skos:exactMatch ncbigene:55801 semapv:UnspecifiedMatching -OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:960 semapv:UnspecifiedMatching -OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:BAZ1A semapv:UnspecifiedMatching -OMIM:605680 BAZ1A skos:exactMatch ncbigene:11177 semapv:UnspecifiedMatching -OMIM:605681 BAZ1B skos:exactMatch UMLS:C1412742 semapv:UnspecifiedMatching -OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:961 semapv:UnspecifiedMatching -OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:BAZ1B semapv:UnspecifiedMatching -OMIM:605681 BAZ1B skos:exactMatch ncbigene:9031 semapv:UnspecifiedMatching -OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:962 semapv:UnspecifiedMatching -OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:BAZ2A semapv:UnspecifiedMatching -OMIM:605682 BAZ2A skos:exactMatch ncbigene:11176 semapv:UnspecifiedMatching -OMIM:605683 BAZ2B skos:exactMatch UMLS:C1412744 semapv:UnspecifiedMatching -OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:963 semapv:UnspecifiedMatching -OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:BAZ2B semapv:UnspecifiedMatching -OMIM:605683 BAZ2B skos:exactMatch ncbigene:29994 semapv:UnspecifiedMatching -OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:10063 semapv:UnspecifiedMatching -OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:TRIM34 semapv:UnspecifiedMatching -OMIM:605684 TRIM34 skos:exactMatch ncbigene:53840 semapv:UnspecifiedMatching -OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:5951 semapv:UnspecifiedMatching -OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:CADM1 semapv:UnspecifiedMatching -OMIM:605686 CADM1 skos:exactMatch ncbigene:23705 semapv:UnspecifiedMatching -OMIM:605687 IL19 skos:exactMatch hgnc.symbol:5990 semapv:UnspecifiedMatching -OMIM:605687 IL19 skos:exactMatch hgnc.symbol:IL19 semapv:UnspecifiedMatching -OMIM:605687 IL19 skos:exactMatch ncbigene:29949 semapv:UnspecifiedMatching -OMIM:605688 CPNE6 skos:exactMatch UMLS:C1413680 semapv:UnspecifiedMatching -OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:2319 semapv:UnspecifiedMatching -OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:CPNE6 semapv:UnspecifiedMatching -OMIM:605688 CPNE6 skos:exactMatch ncbigene:9362 semapv:UnspecifiedMatching -OMIM:605689 CPNE7 skos:exactMatch UMLS:C1332778 semapv:UnspecifiedMatching -OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:2320 semapv:UnspecifiedMatching -OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:CPNE7 semapv:UnspecifiedMatching -OMIM:605689 CPNE7 skos:exactMatch ncbigene:27132 semapv:UnspecifiedMatching -OMIM:605690 BICRA skos:exactMatch hgnc.symbol:4332 semapv:UnspecifiedMatching -OMIM:605690 BICRA skos:exactMatch hgnc.symbol:BICRA semapv:UnspecifiedMatching -OMIM:605690 BICRA skos:exactMatch ncbigene:29998 semapv:UnspecifiedMatching -OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:4333 semapv:UnspecifiedMatching -OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:NOP53 semapv:UnspecifiedMatching -OMIM:605691 NOP53 skos:exactMatch ncbigene:29997 semapv:UnspecifiedMatching -OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:17994 semapv:UnspecifiedMatching -OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:TRPM7 semapv:UnspecifiedMatching -OMIM:605692 TRPM7 skos:exactMatch ncbigene:54822 semapv:UnspecifiedMatching -OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:9770 semapv:UnspecifiedMatching -OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:RAB30 semapv:UnspecifiedMatching -OMIM:605693 RAB30 skos:exactMatch ncbigene:27314 semapv:UnspecifiedMatching -OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:9771 semapv:UnspecifiedMatching -OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:RAB31 semapv:UnspecifiedMatching -OMIM:605694 RAB31 skos:exactMatch ncbigene:11031 semapv:UnspecifiedMatching -OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:24206 semapv:UnspecifiedMatching -OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:BLOC1S4 semapv:UnspecifiedMatching -OMIM:605695 BLOC1S4 skos:exactMatch ncbigene:55330 semapv:UnspecifiedMatching -OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:6249 semapv:UnspecifiedMatching -OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:KCNG2 semapv:UnspecifiedMatching -OMIM:605696 KCNG2 skos:exactMatch ncbigene:26251 semapv:UnspecifiedMatching -OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:14893 semapv:UnspecifiedMatching -OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:ULBP1 semapv:UnspecifiedMatching -OMIM:605697 ULBP1 skos:exactMatch ncbigene:80329 semapv:UnspecifiedMatching -OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:14894 semapv:UnspecifiedMatching -OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:ULBP2 semapv:UnspecifiedMatching -OMIM:605698 ULBP2 skos:exactMatch ncbigene:80328 semapv:UnspecifiedMatching -OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:14895 semapv:UnspecifiedMatching -OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:ULBP3 semapv:UnspecifiedMatching -OMIM:605699 ULBP3 skos:exactMatch ncbigene:79465 semapv:UnspecifiedMatching -OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:10065 semapv:UnspecifiedMatching -OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:TRIM39 semapv:UnspecifiedMatching -OMIM:605700 TRIM39 skos:exactMatch ncbigene:56658 semapv:UnspecifiedMatching -OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:10072 semapv:UnspecifiedMatching -OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:TRIM10 semapv:UnspecifiedMatching -OMIM:605701 TRIM10 skos:exactMatch ncbigene:10107 semapv:UnspecifiedMatching -OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:14687 semapv:UnspecifiedMatching -OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:LYVE1 semapv:UnspecifiedMatching -OMIM:605702 LYVE1 skos:exactMatch ncbigene:10894 semapv:UnspecifiedMatching -OMIM:605703 VAPA skos:exactMatch hgnc.symbol:12648 semapv:UnspecifiedMatching -OMIM:605703 VAPA skos:exactMatch hgnc.symbol:VAPA semapv:UnspecifiedMatching -OMIM:605703 VAPA skos:exactMatch ncbigene:9218 semapv:UnspecifiedMatching -OMIM:605704 VAPB skos:exactMatch hgnc.symbol:12649 semapv:UnspecifiedMatching -OMIM:605704 VAPB skos:exactMatch hgnc.symbol:VAPB semapv:UnspecifiedMatching -OMIM:605704 VAPB skos:exactMatch ncbigene:9217 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch UMLS:C1420279 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:11142 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:SIK1 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch ncbigene:150094 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch UMLS:C0406733 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch UMLS:C1538842 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:496 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:RIPK4 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch ncbigene:54101 semapv:UnspecifiedMatching -OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:14580 semapv:UnspecifiedMatching -OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:ARHGEF11 semapv:UnspecifiedMatching -OMIM:605708 ARHGEF11 skos:exactMatch ncbigene:9826 semapv:UnspecifiedMatching -OMIM:605709 ARL6IP5 skos:exactMatch UMLS:C1538931 semapv:UnspecifiedMatching -OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:16937 semapv:UnspecifiedMatching -OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:ARL6IP5 semapv:UnspecifiedMatching -OMIM:605709 ARL6IP5 skos:exactMatch ncbigene:10550 semapv:UnspecifiedMatching -OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:4245 semapv:UnspecifiedMatching -OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:GFRA3 semapv:UnspecifiedMatching -OMIM:605710 GFRA3 skos:exactMatch ncbigene:2676 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch UMLS:C1420390 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5231533 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:11277 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:SPTLC1 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch ncbigene:10558 semapv:UnspecifiedMatching -OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:11278 semapv:UnspecifiedMatching -OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:SPTLC2 semapv:UnspecifiedMatching -OMIM:605713 SPTLC2 skos:exactMatch ncbigene:9517 semapv:UnspecifiedMatching -OMIM:605715 CD276 skos:exactMatch hgnc.symbol:19137 semapv:UnspecifiedMatching -OMIM:605715 CD276 skos:exactMatch hgnc.symbol:CD276 semapv:UnspecifiedMatching -OMIM:605715 CD276 skos:exactMatch ncbigene:80381 semapv:UnspecifiedMatching -OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:6254 semapv:UnspecifiedMatching -OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:KCNH5 semapv:UnspecifiedMatching -OMIM:605716 KCNH5 skos:exactMatch ncbigene:27133 semapv:UnspecifiedMatching -OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:17087 semapv:UnspecifiedMatching -OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:ICOSLG semapv:UnspecifiedMatching -OMIM:605717 ICOSLG skos:exactMatch ncbigene:23308 semapv:UnspecifiedMatching -OMIM:605718 MED4 skos:exactMatch hgnc.symbol:17903 semapv:UnspecifiedMatching -OMIM:605718 MED4 skos:exactMatch hgnc.symbol:MED4 semapv:UnspecifiedMatching -OMIM:605718 MED4 skos:exactMatch ncbigene:29079 semapv:UnspecifiedMatching -OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:12749 semapv:UnspecifiedMatching -OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:LAT2 semapv:UnspecifiedMatching -OMIM:605719 LAT2 skos:exactMatch ncbigene:7462 semapv:UnspecifiedMatching -OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:6279 semapv:UnspecifiedMatching -OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:KCNK4 semapv:UnspecifiedMatching -OMIM:605720 KCNK4 skos:exactMatch ncbigene:50801 semapv:UnspecifiedMatching -OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:14685 semapv:UnspecifiedMatching -OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:F11R semapv:UnspecifiedMatching -OMIM:605721 JAM1 skos:exactMatch ncbigene:50848 semapv:UnspecifiedMatching -OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:6262 semapv:UnspecifiedMatching -OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:KCNJ16 semapv:UnspecifiedMatching -OMIM:605722 KCNJ16 skos:exactMatch ncbigene:3773 semapv:UnspecifiedMatching -OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:18731 semapv:UnspecifiedMatching -OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:PDCD1LG2 semapv:UnspecifiedMatching -OMIM:605723 PDCD1LG2 skos:exactMatch ncbigene:80380 semapv:UnspecifiedMatching -OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch Orphanet:319462 semapv:UnspecifiedMatching -OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching -OMIM:605725 PRX skos:exactMatch hgnc.symbol:13797 semapv:UnspecifiedMatching -OMIM:605725 PRX skos:exactMatch hgnc.symbol:PRX semapv:UnspecifiedMatching -OMIM:605725 PRX skos:exactMatch ncbigene:57716 semapv:UnspecifiedMatching -OMIM:605729 AKNA skos:exactMatch hgnc.symbol:24108 semapv:UnspecifiedMatching -OMIM:605729 AKNA skos:exactMatch hgnc.symbol:AKNA semapv:UnspecifiedMatching -OMIM:605729 AKNA skos:exactMatch ncbigene:80709 semapv:UnspecifiedMatching -OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:11215 semapv:UnspecifiedMatching -OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:SPAG6 semapv:UnspecifiedMatching -OMIM:605730 SPAG6 skos:exactMatch ncbigene:9576 semapv:UnspecifiedMatching -OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:14105 semapv:UnspecifiedMatching -OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:SPAG8 semapv:UnspecifiedMatching -OMIM:605731 SPAG8 skos:exactMatch ncbigene:26206 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C1422006 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:13469 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:TNFRSF21 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch ncbigene:27242 semapv:UnspecifiedMatching -OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:30255 semapv:UnspecifiedMatching -OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:PRELID1 semapv:UnspecifiedMatching -OMIM:605733 PRELID1 skos:exactMatch ncbigene:27166 semapv:UnspecifiedMatching -OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:11867 semapv:UnspecifiedMatching -OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:TMEFF2 semapv:UnspecifiedMatching -OMIM:605734 TMEFF2 skos:exactMatch ncbigene:23671 semapv:UnspecifiedMatching -OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:12462 semapv:UnspecifiedMatching -OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:UBASH3A semapv:UnspecifiedMatching -OMIM:605736 UBASH3A skos:exactMatch ncbigene:53347 semapv:UnspecifiedMatching -OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:13702 semapv:UnspecifiedMatching -OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:BIRC7 semapv:UnspecifiedMatching -OMIM:605737 BIRC7 skos:exactMatch ncbigene:79444 semapv:UnspecifiedMatching -OMIM:605739 KY skos:exactMatch hgnc.symbol:26576 semapv:UnspecifiedMatching -OMIM:605739 KY skos:exactMatch hgnc.symbol:KY semapv:UnspecifiedMatching -OMIM:605739 KY skos:exactMatch ncbigene:339855 semapv:UnspecifiedMatching -OMIM:605740 SOST skos:exactMatch hgnc.symbol:13771 semapv:UnspecifiedMatching -OMIM:605740 SOST skos:exactMatch hgnc.symbol:SOST semapv:UnspecifiedMatching -OMIM:605740 SOST skos:exactMatch ncbigene:50964 semapv:UnspecifiedMatching -OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:3128 semapv:UnspecifiedMatching -OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:GPR183 semapv:UnspecifiedMatching -OMIM:605741 GPR183 skos:exactMatch ncbigene:1880 semapv:UnspecifiedMatching -OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:12410 semapv:UnspecifiedMatching -OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:TUBA8 semapv:UnspecifiedMatching -OMIM:605742 TUBA8 skos:exactMatch ncbigene:51807 semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch UMLS:C1539668 semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch hgnc.symbol:18270 semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch hgnc.symbol:HHAT semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch ncbigene:55733 semapv:UnspecifiedMatching -OMIM:605744 EXTL3 skos:exactMatch UMLS:C1367595 semapv:UnspecifiedMatching -OMIM:605744 EXTL3 skos:exactMatch UMLS:C4479452 semapv:UnspecifiedMatching -OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:3518 semapv:UnspecifiedMatching -OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:EXTL3 semapv:UnspecifiedMatching -OMIM:605744 EXTL3 skos:exactMatch ncbigene:2137 semapv:UnspecifiedMatching -OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:20797 semapv:UnspecifiedMatching -OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:CYBRD1 semapv:UnspecifiedMatching -OMIM:605745 CYBRD1 skos:exactMatch ncbigene:79901 semapv:UnspecifiedMatching -OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:18640 semapv:UnspecifiedMatching -OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:LDLRAP1 semapv:UnspecifiedMatching -OMIM:605747 LDLRAP1 skos:exactMatch ncbigene:26119 semapv:UnspecifiedMatching -OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:13815 semapv:UnspecifiedMatching -OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:BCO1 semapv:UnspecifiedMatching -OMIM:605748 BCO1 skos:exactMatch ncbigene:53630 semapv:UnspecifiedMatching -OMIM:605752 HID1 skos:exactMatch hgnc.symbol:15736 semapv:UnspecifiedMatching -OMIM:605752 HID1 skos:exactMatch hgnc.symbol:HID1 semapv:UnspecifiedMatching -OMIM:605752 HID1 skos:exactMatch ncbigene:283987 semapv:UnspecifiedMatching -OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:11245 semapv:UnspecifiedMatching -OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:SPINK2 semapv:UnspecifiedMatching -OMIM:605753 SPINK2 skos:exactMatch ncbigene:6691 semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch UMLS:C1422429 semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:14135 semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:PIGQ semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch ncbigene:9091 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch UMLS:C1425339 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch UMLS:C1857750 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch UMLS:C4015542 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch UMLS:C4479344 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:18141 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:DCDC2 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch ncbigene:51473 semapv:UnspecifiedMatching -OMIM:605757 PELO skos:exactMatch UMLS:C1418455 semapv:UnspecifiedMatching -OMIM:605757 PELO skos:exactMatch hgnc.symbol:8829 semapv:UnspecifiedMatching -OMIM:605757 PELO skos:exactMatch hgnc.symbol:PELO semapv:UnspecifiedMatching -OMIM:605757 PELO skos:exactMatch ncbigene:53918 semapv:UnspecifiedMatching -OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:16011 semapv:UnspecifiedMatching -OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:ASB1 semapv:UnspecifiedMatching -OMIM:605758 ASB1 skos:exactMatch ncbigene:51665 semapv:UnspecifiedMatching -OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:16012 semapv:UnspecifiedMatching -OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:ASB2 semapv:UnspecifiedMatching -OMIM:605759 ASB2 skos:exactMatch ncbigene:51676 semapv:UnspecifiedMatching -OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:16013 semapv:UnspecifiedMatching -OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:ASB3 semapv:UnspecifiedMatching -OMIM:605760 ASB3 skos:exactMatch ncbigene:51130 semapv:UnspecifiedMatching -OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:16009 semapv:UnspecifiedMatching -OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:ASB4 semapv:UnspecifiedMatching -OMIM:605761 ASB4 skos:exactMatch ncbigene:51666 semapv:UnspecifiedMatching -OMIM:605762 MOK skos:exactMatch hgnc.symbol:9833 semapv:UnspecifiedMatching -OMIM:605762 MOK skos:exactMatch hgnc.symbol:MOK semapv:UnspecifiedMatching -OMIM:605762 MOK skos:exactMatch ncbigene:5891 semapv:UnspecifiedMatching -OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:17939 semapv:UnspecifiedMatching -OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:SLC45A1 semapv:UnspecifiedMatching -OMIM:605763 SLC45A1 skos:exactMatch ncbigene:50651 semapv:UnspecifiedMatching -OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:17768 semapv:UnspecifiedMatching -OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:TDP2 semapv:UnspecifiedMatching -OMIM:605764 TDP2 skos:exactMatch ncbigene:51567 semapv:UnspecifiedMatching -OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:13747 semapv:UnspecifiedMatching -OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:DLEU1 semapv:UnspecifiedMatching -OMIM:605765 DLEU1 skos:exactMatch ncbigene:10301 semapv:UnspecifiedMatching -OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:13748 semapv:UnspecifiedMatching -OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:DLEU2 semapv:UnspecifiedMatching -OMIM:605766 DLEU2 skos:exactMatch ncbigene:8847 semapv:UnspecifiedMatching -OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:30043 semapv:UnspecifiedMatching -OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:PAG1 semapv:UnspecifiedMatching -OMIM:605767 PAG1 skos:exactMatch ncbigene:55824 semapv:UnspecifiedMatching -OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:16500 semapv:UnspecifiedMatching -OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:DAPP1 semapv:UnspecifiedMatching -OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch ncbigene:27071 semapv:UnspecifiedMatching -OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:16290 semapv:UnspecifiedMatching -OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:TRIM33 semapv:UnspecifiedMatching -OMIM:605769 TRIM33 skos:exactMatch ncbigene:51592 semapv:UnspecifiedMatching -OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:6041 semapv:UnspecifiedMatching -OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:ILVBL semapv:UnspecifiedMatching -OMIM:605770 ILVBL skos:exactMatch ncbigene:10994 semapv:UnspecifiedMatching -OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:2289 semapv:UnspecifiedMatching -OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:COX7A2L semapv:UnspecifiedMatching -OMIM:605771 COX7A2L skos:exactMatch ncbigene:9167 semapv:UnspecifiedMatching -OMIM:605772 EBAG9 skos:exactMatch hgnc.symbol:3123 semapv:UnspecifiedMatching -OMIM:605772 EBAG9 skos:exactMatch hgnc.symbol:EBAG9 semapv:UnspecifiedMatching -OMIM:605772 EBAG9 skos:exactMatch ncbigene:9166 semapv:UnspecifiedMatching -OMIM:605773 LTB4R2 skos:exactMatch hgnc.symbol:19260 semapv:UnspecifiedMatching -OMIM:605773 LTB4R2 skos:exactMatch hgnc.symbol:LTB4R2 semapv:UnspecifiedMatching -OMIM:605773 LTB4R2 skos:exactMatch ncbigene:56413 semapv:UnspecifiedMatching -OMIM:605774 KLHL2 skos:exactMatch hgnc.symbol:6353 semapv:UnspecifiedMatching -OMIM:605774 KLHL2 skos:exactMatch hgnc.symbol:KLHL2 semapv:UnspecifiedMatching -OMIM:605774 KLHL2 skos:exactMatch ncbigene:11275 semapv:UnspecifiedMatching -OMIM:605775 KLHL3 skos:exactMatch hgnc.symbol:6354 semapv:UnspecifiedMatching -OMIM:605775 KLHL3 skos:exactMatch hgnc.symbol:KLHL3 semapv:UnspecifiedMatching -OMIM:605775 KLHL3 skos:exactMatch ncbigene:26249 semapv:UnspecifiedMatching -OMIM:605776 FGL1 skos:exactMatch hgnc.symbol:3695 semapv:UnspecifiedMatching -OMIM:605776 FGL1 skos:exactMatch hgnc.symbol:FGL1 semapv:UnspecifiedMatching -OMIM:605776 FGL1 skos:exactMatch ncbigene:2267 semapv:UnspecifiedMatching -OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:14240 semapv:UnspecifiedMatching -OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:SMPD3 semapv:UnspecifiedMatching -OMIM:605777 SMPD3 skos:exactMatch ncbigene:55512 semapv:UnspecifiedMatching -OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:13390 semapv:UnspecifiedMatching -OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:NIF3L1 semapv:UnspecifiedMatching -OMIM:605778 NIF3L1 skos:exactMatch ncbigene:60491 semapv:UnspecifiedMatching -OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:9348 semapv:UnspecifiedMatching -OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:PRDM4 semapv:UnspecifiedMatching -OMIM:605780 PRDM4 skos:exactMatch ncbigene:11108 semapv:UnspecifiedMatching -OMIM:605781 RHOD skos:exactMatch hgnc.symbol:670 semapv:UnspecifiedMatching -OMIM:605781 RHOD skos:exactMatch hgnc.symbol:RHOD semapv:UnspecifiedMatching -OMIM:605781 RHOD skos:exactMatch ncbigene:29984 semapv:UnspecifiedMatching -OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:3301 semapv:UnspecifiedMatching -OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:EIF5A2 semapv:UnspecifiedMatching -OMIM:605782 EIF5A2 skos:exactMatch ncbigene:56648 semapv:UnspecifiedMatching -OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:975 semapv:UnspecifiedMatching -OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:BCAS2 semapv:UnspecifiedMatching -OMIM:605783 BCAS2 skos:exactMatch ncbigene:10286 semapv:UnspecifiedMatching -OMIM:605784 TTYH1 skos:exactMatch hgnc.symbol:13476 semapv:UnspecifiedMatching -OMIM:605784 TTYH1 skos:exactMatch hgnc.symbol:TTYH1 semapv:UnspecifiedMatching -OMIM:605784 TTYH1 skos:exactMatch ncbigene:57348 semapv:UnspecifiedMatching -OMIM:605785 TUBG2 skos:exactMatch hgnc.symbol:12419 semapv:UnspecifiedMatching -OMIM:605785 TUBG2 skos:exactMatch hgnc.symbol:TUBG2 semapv:UnspecifiedMatching -OMIM:605785 TUBG2 skos:exactMatch ncbigene:27175 semapv:UnspecifiedMatching -OMIM:605786 RBMS3 skos:exactMatch hgnc.symbol:13427 semapv:UnspecifiedMatching -OMIM:605786 RBMS3 skos:exactMatch hgnc.symbol:RBMS3 semapv:UnspecifiedMatching -OMIM:605786 RBMS3 skos:exactMatch ncbigene:27303 semapv:UnspecifiedMatching -OMIM:605787 ANKRA2 skos:exactMatch UMLS:C1421879 semapv:UnspecifiedMatching -OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:13208 semapv:UnspecifiedMatching -OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:ANKRA2 semapv:UnspecifiedMatching -OMIM:605787 ANKRA2 skos:exactMatch ncbigene:57763 semapv:UnspecifiedMatching -OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:6892 semapv:UnspecifiedMatching -OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:MAPRE3 semapv:UnspecifiedMatching -OMIM:605788 MAPRE3 skos:exactMatch ncbigene:22924 semapv:UnspecifiedMatching -OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:6891 semapv:UnspecifiedMatching -OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:MAPRE2 semapv:UnspecifiedMatching -OMIM:605789 MAPRE2 skos:exactMatch ncbigene:10982 semapv:UnspecifiedMatching -OMIM:605790 STK31 skos:exactMatch hgnc.symbol:11407 semapv:UnspecifiedMatching -OMIM:605790 STK31 skos:exactMatch hgnc.symbol:STK31 semapv:UnspecifiedMatching -OMIM:605790 STK31 skos:exactMatch ncbigene:56164 semapv:UnspecifiedMatching -OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:11734 semapv:UnspecifiedMatching -OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:TEX12 semapv:UnspecifiedMatching -OMIM:605791 TEX12 skos:exactMatch ncbigene:56158 semapv:UnspecifiedMatching -OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:11737 semapv:UnspecifiedMatching -OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:TEX14 semapv:UnspecifiedMatching -OMIM:605792 TEX14 skos:exactMatch ncbigene:56155 semapv:UnspecifiedMatching -OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:10060 semapv:UnspecifiedMatching -OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:RNF17 semapv:UnspecifiedMatching -OMIM:605793 RNF17 skos:exactMatch ncbigene:56163 semapv:UnspecifiedMatching -OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:7201 semapv:UnspecifiedMatching -OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:MOV10L1 semapv:UnspecifiedMatching -OMIM:605794 MOV10L1 skos:exactMatch ncbigene:54456 semapv:UnspecifiedMatching -OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:11738 semapv:UnspecifiedMatching -OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:TEX15 semapv:UnspecifiedMatching -OMIM:605795 TEX15 skos:exactMatch ncbigene:56154 semapv:UnspecifiedMatching -OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:11712 semapv:UnspecifiedMatching -OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:TDRD1 semapv:UnspecifiedMatching -OMIM:605796 TDRD1 skos:exactMatch ncbigene:56165 semapv:UnspecifiedMatching -OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:1350 semapv:UnspecifiedMatching -OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:ASZ1 semapv:UnspecifiedMatching -OMIM:605797 ASZ1 skos:exactMatch ncbigene:136991 semapv:UnspecifiedMatching -OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:7899 semapv:UnspecifiedMatching -OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:NPDC1 semapv:UnspecifiedMatching -OMIM:605798 NPDC1 skos:exactMatch ncbigene:56654 semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch UMLS:C1422785 semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch hgnc.symbol:14604 semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch hgnc.symbol:AMN semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch ncbigene:81693 semapv:UnspecifiedMatching -OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:17011 semapv:UnspecifiedMatching -OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:HNRNPUL1 semapv:UnspecifiedMatching -OMIM:605800 HNRNPUL1 skos:exactMatch ncbigene:11100 semapv:UnspecifiedMatching -OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:9841 semapv:UnspecifiedMatching -OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:RALBP1 semapv:UnspecifiedMatching -OMIM:605801 RALBP1 skos:exactMatch ncbigene:10928 semapv:UnspecifiedMatching -OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:14881 semapv:UnspecifiedMatching -OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:ZEB2 semapv:UnspecifiedMatching -OMIM:605802 ZEB2 skos:exactMatch ncbigene:9839 semapv:UnspecifiedMatching -OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:1766 semapv:UnspecifiedMatching -OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:CDH7 semapv:UnspecifiedMatching -OMIM:605806 CDH7 skos:exactMatch ncbigene:1005 semapv:UnspecifiedMatching -OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:1760 semapv:UnspecifiedMatching -OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:CDH20 semapv:UnspecifiedMatching -OMIM:605807 CDH20 skos:exactMatch ncbigene:28316 semapv:UnspecifiedMatching -OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:14508 semapv:UnspecifiedMatching -OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:MRPS22 semapv:UnspecifiedMatching -OMIM:605810 MRPS22 skos:exactMatch ncbigene:56945 semapv:UnspecifiedMatching -OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:15913 semapv:UnspecifiedMatching -OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:NXT1 semapv:UnspecifiedMatching -OMIM:605811 NXT1 skos:exactMatch ncbigene:29107 semapv:UnspecifiedMatching -OMIM:605812 DDX19B skos:exactMatch UMLS:C1824903 semapv:UnspecifiedMatching -OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:2742 semapv:UnspecifiedMatching -OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:DDX19B semapv:UnspecifiedMatching -OMIM:605812 DDX19B skos:exactMatch ncbigene:11269 semapv:UnspecifiedMatching -OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:13722 semapv:UnspecifiedMatching -OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:NUTF2 semapv:UnspecifiedMatching -OMIM:605813 NUTF2 skos:exactMatch ncbigene:10204 semapv:UnspecifiedMatching -OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching -OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch UMLS:C1853942 semapv:UnspecifiedMatching -OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:8066 semapv:UnspecifiedMatching -OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:NUP62 semapv:UnspecifiedMatching -OMIM:605815 NUP62 skos:exactMatch ncbigene:23636 semapv:UnspecifiedMatching -OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:3129 semapv:UnspecifiedMatching -OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:EBI3 semapv:UnspecifiedMatching -OMIM:605816 EBI3 skos:exactMatch ncbigene:10148 semapv:UnspecifiedMatching -OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:10021 semapv:UnspecifiedMatching -OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:RIPK3 semapv:UnspecifiedMatching -OMIM:605817 RIPK3 skos:exactMatch ncbigene:11035 semapv:UnspecifiedMatching -OMIM:605819 PES1 skos:exactMatch hgnc.symbol:8848 semapv:UnspecifiedMatching -OMIM:605819 PES1 skos:exactMatch hgnc.symbol:PES1 semapv:UnspecifiedMatching -OMIM:605819 PES1 skos:exactMatch ncbigene:23481 semapv:UnspecifiedMatching -OMIM:605821 AHSP skos:exactMatch hgnc.symbol:18075 semapv:UnspecifiedMatching -OMIM:605821 AHSP skos:exactMatch hgnc.symbol:AHSP semapv:UnspecifiedMatching -OMIM:605821 AHSP skos:exactMatch ncbigene:51327 semapv:UnspecifiedMatching -OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:17648 semapv:UnspecifiedMatching -OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:POPDC2 semapv:UnspecifiedMatching -OMIM:605823 POPDC2 skos:exactMatch ncbigene:64091 semapv:UnspecifiedMatching -OMIM:605824 POPDC3 skos:exactMatch UMLS:C1425025 semapv:UnspecifiedMatching -OMIM:605824 POPDC3 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching -OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:17649 semapv:UnspecifiedMatching -OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:POPDC3 semapv:UnspecifiedMatching -OMIM:605824 POPDC3 skos:exactMatch ncbigene:64208 semapv:UnspecifiedMatching -OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:15716 semapv:UnspecifiedMatching -OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:HEBP2 semapv:UnspecifiedMatching -OMIM:605825 HEBP2 skos:exactMatch ncbigene:23593 semapv:UnspecifiedMatching -OMIM:605826 HEBP1 skos:exactMatch UMLS:C1424798 semapv:UnspecifiedMatching -OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:17176 semapv:UnspecifiedMatching -OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:HEBP1 semapv:UnspecifiedMatching -OMIM:605826 HEBP1 skos:exactMatch ncbigene:50865 semapv:UnspecifiedMatching -OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:18021 semapv:UnspecifiedMatching -OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:TMC6 semapv:UnspecifiedMatching -OMIM:605828 TMC6 skos:exactMatch ncbigene:11322 semapv:UnspecifiedMatching -OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:20474 semapv:UnspecifiedMatching -OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:TMC8 semapv:UnspecifiedMatching -OMIM:605829 TMC8 skos:exactMatch ncbigene:147138 semapv:UnspecifiedMatching -OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:3693 semapv:UnspecifiedMatching -OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:FGFRL1 semapv:UnspecifiedMatching -OMIM:605830 FGFRL1 skos:exactMatch ncbigene:53834 semapv:UnspecifiedMatching -OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:3679 semapv:UnspecifiedMatching -OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:FGF22 semapv:UnspecifiedMatching -OMIM:605831 FGF22 skos:exactMatch ncbigene:27006 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch UMLS:C1825842 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:15814 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:ACSS2 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch ncbigene:55902 semapv:UnspecifiedMatching -OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:11874 semapv:UnspecifiedMatching -OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:TMOD4 semapv:UnspecifiedMatching -OMIM:605834 TMOD4 skos:exactMatch ncbigene:29765 semapv:UnspecifiedMatching -OMIM:605835 CEMIP2 skos:exactMatch hgnc.symbol:11869 semapv:UnspecifiedMatching -OMIM:605835 CEMIP2 skos:exactMatch hgnc.symbol:CEMIP2 semapv:UnspecifiedMatching -OMIM:605835 CEMIP2 skos:exactMatch ncbigene:23670 semapv:UnspecifiedMatching -OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:12566 semapv:UnspecifiedMatching -OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:UNC13B semapv:UnspecifiedMatching -OMIM:605836 UNC13B skos:exactMatch ncbigene:10497 semapv:UnspecifiedMatching -OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:4868 semapv:UnspecifiedMatching -OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:HERC2 semapv:UnspecifiedMatching -OMIM:605837 HERC2 skos:exactMatch ncbigene:8924 semapv:UnspecifiedMatching -OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:17384 semapv:UnspecifiedMatching -OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:RNF111 semapv:UnspecifiedMatching -OMIM:605840 RNF111 skos:exactMatch ncbigene:54778 semapv:UnspecifiedMatching -OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:11586 semapv:UnspecifiedMatching -OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:TBL2 semapv:UnspecifiedMatching -OMIM:605842 TBL2 skos:exactMatch ncbigene:26608 semapv:UnspecifiedMatching -OMIM:605843 PECR skos:exactMatch hgnc.symbol:18281 semapv:UnspecifiedMatching -OMIM:605843 PECR skos:exactMatch hgnc.symbol:PECR semapv:UnspecifiedMatching -OMIM:605843 PECR skos:exactMatch ncbigene:55825 semapv:UnspecifiedMatching -OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:1005 semapv:UnspecifiedMatching -OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:BCL7B semapv:UnspecifiedMatching -OMIM:605846 BCL7B skos:exactMatch ncbigene:9275 semapv:UnspecifiedMatching -OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:1006 semapv:UnspecifiedMatching -OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:BCL7C semapv:UnspecifiedMatching -OMIM:605847 BCL7C skos:exactMatch ncbigene:9274 semapv:UnspecifiedMatching -OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:1502 semapv:UnspecifiedMatching -OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:CASP14 semapv:UnspecifiedMatching -OMIM:605848 CASP14 skos:exactMatch ncbigene:23581 semapv:UnspecifiedMatching -OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:24475 semapv:UnspecifiedMatching -OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:DMGDH semapv:UnspecifiedMatching -OMIM:605849 DMGDH skos:exactMatch ncbigene:29958 semapv:UnspecifiedMatching -OMIM:605851 ICMT skos:exactMatch hgnc.symbol:5350 semapv:UnspecifiedMatching -OMIM:605851 ICMT skos:exactMatch hgnc.symbol:ICMT semapv:UnspecifiedMatching -OMIM:605851 ICMT skos:exactMatch ncbigene:23463 semapv:UnspecifiedMatching -OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:17088 semapv:UnspecifiedMatching -OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:CLASP1 semapv:UnspecifiedMatching -OMIM:605852 CLASP1 skos:exactMatch ncbigene:23332 semapv:UnspecifiedMatching -OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:17078 semapv:UnspecifiedMatching -OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:CLASP2 semapv:UnspecifiedMatching -OMIM:605853 CLASP2 skos:exactMatch ncbigene:23122 semapv:UnspecifiedMatching -OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:17868 semapv:UnspecifiedMatching -OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:BBC3 semapv:UnspecifiedMatching -OMIM:605854 BBC3 skos:exactMatch ncbigene:27113 semapv:UnspecifiedMatching -OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:13542 semapv:UnspecifiedMatching -OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:ATP10A semapv:UnspecifiedMatching -OMIM:605855 ATP10A skos:exactMatch ncbigene:57194 semapv:UnspecifiedMatching -OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:17736 semapv:UnspecifiedMatching -OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:RHOQ semapv:UnspecifiedMatching -OMIM:605857 RHOQ skos:exactMatch ncbigene:23433 semapv:UnspecifiedMatching -OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:15950 semapv:UnspecifiedMatching -OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:SCRT1 semapv:UnspecifiedMatching -OMIM:605858 SCRT1 skos:exactMatch ncbigene:83482 semapv:UnspecifiedMatching -OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:16763 semapv:UnspecifiedMatching -OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:ZBTB32 semapv:UnspecifiedMatching -OMIM:605859 ZBTB32 skos:exactMatch ncbigene:27033 semapv:UnspecifiedMatching -OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:3042 semapv:UnspecifiedMatching -OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:RCAN3 semapv:UnspecifiedMatching -OMIM:605860 RCAN3 skos:exactMatch ncbigene:11123 semapv:UnspecifiedMatching -OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:13529 semapv:UnspecifiedMatching -OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:CNPY2 semapv:UnspecifiedMatching -OMIM:605861 CNPY2 skos:exactMatch ncbigene:10330 semapv:UnspecifiedMatching -OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:13530 semapv:UnspecifiedMatching -OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:RXYLT1 semapv:UnspecifiedMatching -OMIM:605862 RXYLT1 skos:exactMatch ncbigene:10329 semapv:UnspecifiedMatching -OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:13528 semapv:UnspecifiedMatching -OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:B3GNT3 semapv:UnspecifiedMatching -OMIM:605863 B3GNT3 skos:exactMatch ncbigene:10331 semapv:UnspecifiedMatching -OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:15683 semapv:UnspecifiedMatching -OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:B3GNT4 semapv:UnspecifiedMatching -OMIM:605864 B3GNT4 skos:exactMatch ncbigene:79369 semapv:UnspecifiedMatching -OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:15661 semapv:UnspecifiedMatching -OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:TAS1R3 semapv:UnspecifiedMatching -OMIM:605865 TAS1R3 skos:exactMatch ncbigene:83756 semapv:UnspecifiedMatching -OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:13535 semapv:UnspecifiedMatching -OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:ATP8B3 semapv:UnspecifiedMatching -OMIM:605866 ATP8B3 skos:exactMatch ncbigene:148229 semapv:UnspecifiedMatching -OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:13534 semapv:UnspecifiedMatching -OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:ATP8B2 semapv:UnspecifiedMatching -OMIM:605867 ATP8B2 skos:exactMatch ncbigene:57198 semapv:UnspecifiedMatching -OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:13552 semapv:UnspecifiedMatching -OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:ATP11A semapv:UnspecifiedMatching -OMIM:605868 ATP11A skos:exactMatch ncbigene:23250 semapv:UnspecifiedMatching -OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:13553 semapv:UnspecifiedMatching -OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:ATP11B semapv:UnspecifiedMatching -OMIM:605869 ATP11B skos:exactMatch ncbigene:23200 semapv:UnspecifiedMatching -OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:13533 semapv:UnspecifiedMatching -OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:ATP8A2 semapv:UnspecifiedMatching -OMIM:605870 ATP8A2 skos:exactMatch ncbigene:51761 semapv:UnspecifiedMatching -OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:13523 semapv:UnspecifiedMatching -OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:CLEC4M semapv:UnspecifiedMatching -OMIM:605872 CLEC4M skos:exactMatch ncbigene:10332 semapv:UnspecifiedMatching -OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:6273 semapv:UnspecifiedMatching -OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:KCNK10 semapv:UnspecifiedMatching -OMIM:605873 KCNK10 skos:exactMatch ncbigene:54207 semapv:UnspecifiedMatching -OMIM:605874 KCNK9 skos:exactMatch UMLS:C1416601 semapv:UnspecifiedMatching -OMIM:605874 KCNK9 skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching -OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:6283 semapv:UnspecifiedMatching -OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:KCNK9 semapv:UnspecifiedMatching -OMIM:605874 KCNK9 skos:exactMatch ncbigene:51305 semapv:UnspecifiedMatching -OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:12733 semapv:UnspecifiedMatching -OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:WASF2 semapv:UnspecifiedMatching -OMIM:605875 WASF2 skos:exactMatch ncbigene:10163 semapv:UnspecifiedMatching -OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:18507 semapv:UnspecifiedMatching -OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:FCRL4 semapv:UnspecifiedMatching -OMIM:605876 FCRL4 skos:exactMatch ncbigene:83417 semapv:UnspecifiedMatching -OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:18508 semapv:UnspecifiedMatching -OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:FCRL5 semapv:UnspecifiedMatching -OMIM:605877 FCRL5 skos:exactMatch ncbigene:83416 semapv:UnspecifiedMatching -OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:18078 semapv:UnspecifiedMatching -OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:ZBTB7A semapv:UnspecifiedMatching -OMIM:605878 ZBTB7A skos:exactMatch ncbigene:51341 semapv:UnspecifiedMatching -OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:6291 semapv:UnspecifiedMatching -OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:KCNN2 semapv:UnspecifiedMatching -OMIM:605879 KCNN2 skos:exactMatch ncbigene:3781 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch UMLS:C1425003 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:17582 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:KAT6B semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch ncbigene:23522 semapv:UnspecifiedMatching -OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:20197 semapv:UnspecifiedMatching -OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:SLC35C1 semapv:UnspecifiedMatching -OMIM:605881 SLC35C1 skos:exactMatch ncbigene:55343 semapv:UnspecifiedMatching -OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:20473 semapv:UnspecifiedMatching -OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:BRIP1 semapv:UnspecifiedMatching -OMIM:605882 BRIP1 skos:exactMatch ncbigene:83990 semapv:UnspecifiedMatching -OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:14582 semapv:UnspecifiedMatching -OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:LAMP3 semapv:UnspecifiedMatching -OMIM:605883 LAMP3 skos:exactMatch ncbigene:27074 semapv:UnspecifiedMatching -OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:2941 semapv:UnspecifiedMatching -OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:DNAH10 semapv:UnspecifiedMatching -OMIM:605884 DNAH10 skos:exactMatch ncbigene:196385 semapv:UnspecifiedMatching -OMIM:605885 SEMA6A skos:exactMatch UMLS:C1419956 semapv:UnspecifiedMatching -OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:10738 semapv:UnspecifiedMatching -OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:SEMA6A semapv:UnspecifiedMatching -OMIM:605885 SEMA6A skos:exactMatch ncbigene:57556 semapv:UnspecifiedMatching -OMIM:605886 CR1L skos:exactMatch hgnc.symbol:2335 semapv:UnspecifiedMatching -OMIM:605886 CR1L skos:exactMatch hgnc.symbol:CR1L semapv:UnspecifiedMatching -OMIM:605886 CR1L skos:exactMatch ncbigene:1379 semapv:UnspecifiedMatching -OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:3242 semapv:UnspecifiedMatching -OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:EHD1 semapv:UnspecifiedMatching -OMIM:605888 EHD1 skos:exactMatch ncbigene:10938 semapv:UnspecifiedMatching -OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:20767 semapv:UnspecifiedMatching -OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:PDLIM3 semapv:UnspecifiedMatching -OMIM:605889 PDLIM3 skos:exactMatch ncbigene:27295 semapv:UnspecifiedMatching -OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:3243 semapv:UnspecifiedMatching -OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:EHD2 semapv:UnspecifiedMatching -OMIM:605890 EHD2 skos:exactMatch ncbigene:30846 semapv:UnspecifiedMatching -OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:3244 semapv:UnspecifiedMatching -OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:EHD3 semapv:UnspecifiedMatching -OMIM:605891 EHD3 skos:exactMatch ncbigene:30845 semapv:UnspecifiedMatching -OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:3245 semapv:UnspecifiedMatching -OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:EHD4 semapv:UnspecifiedMatching -OMIM:605892 EHD4 skos:exactMatch ncbigene:30844 semapv:UnspecifiedMatching -OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:1769 semapv:UnspecifiedMatching -OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:CDIPT semapv:UnspecifiedMatching -OMIM:605893 CDIPT skos:exactMatch ncbigene:10423 semapv:UnspecifiedMatching -OMIM:605894 EID1 skos:exactMatch hgnc.symbol:1191 semapv:UnspecifiedMatching -OMIM:605894 EID1 skos:exactMatch hgnc.symbol:EID1 semapv:UnspecifiedMatching -OMIM:605894 EID1 skos:exactMatch ncbigene:23741 semapv:UnspecifiedMatching -OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:3293 semapv:UnspecifiedMatching -OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:EIF4E2 semapv:UnspecifiedMatching -OMIM:605895 EIF4E2 skos:exactMatch ncbigene:9470 semapv:UnspecifiedMatching -OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:3147 semapv:UnspecifiedMatching -OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:ECEL1 semapv:UnspecifiedMatching -OMIM:605896 ECEL1 skos:exactMatch ncbigene:9427 semapv:UnspecifiedMatching -OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:15663 semapv:UnspecifiedMatching -OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:UGGT1 semapv:UnspecifiedMatching -OMIM:605897 UGGT1 skos:exactMatch ncbigene:56886 semapv:UnspecifiedMatching -OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:15664 semapv:UnspecifiedMatching -OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:UGGT2 semapv:UnspecifiedMatching -OMIM:605898 UGGT2 skos:exactMatch ncbigene:55757 semapv:UnspecifiedMatching -OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:2067 semapv:UnspecifiedMatching -OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:PDLIM1 semapv:UnspecifiedMatching -OMIM:605900 PDLIM1 skos:exactMatch ncbigene:9124 semapv:UnspecifiedMatching -OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:17781 semapv:UnspecifiedMatching -OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:UCN3 semapv:UnspecifiedMatching -OMIM:605901 UCN3 skos:exactMatch ncbigene:114131 semapv:UnspecifiedMatching -OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:18414 semapv:UnspecifiedMatching -OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:UCN2 semapv:UnspecifiedMatching -OMIM:605902 UCN2 skos:exactMatch ncbigene:90226 semapv:UnspecifiedMatching -OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:22958 semapv:UnspecifiedMatching -OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:PDLIM7 semapv:UnspecifiedMatching -OMIM:605903 PDLIM7 skos:exactMatch ncbigene:9260 semapv:UnspecifiedMatching -OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:17468 semapv:UnspecifiedMatching -OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:PDLIM5 semapv:UnspecifiedMatching -OMIM:605904 PDLIM5 skos:exactMatch ncbigene:10611 semapv:UnspecifiedMatching -OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:18184 semapv:UnspecifiedMatching -OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:DCUN1D1 semapv:UnspecifiedMatching -OMIM:605905 DCUN1D1 skos:exactMatch ncbigene:54165 semapv:UnspecifiedMatching -OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:15710 semapv:UnspecifiedMatching -OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:LDB3 semapv:UnspecifiedMatching -OMIM:605906 LDB3 skos:exactMatch ncbigene:11155 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch UMLS:C1425428 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:18294 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:ALG1 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch ncbigene:56052 semapv:UnspecifiedMatching -OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:17082 semapv:UnspecifiedMatching -OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:MLC1 semapv:UnspecifiedMatching -OMIM:605908 MLC1 skos:exactMatch ncbigene:23209 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C1423931 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C4016952 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:16039 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:ANGPTL4 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch ncbigene:51129 semapv:UnspecifiedMatching -OMIM:605912 MEPE skos:exactMatch hgnc.symbol:13361 semapv:UnspecifiedMatching -OMIM:605912 MEPE skos:exactMatch hgnc.symbol:MEPE semapv:UnspecifiedMatching -OMIM:605912 MEPE skos:exactMatch ncbigene:56955 semapv:UnspecifiedMatching -OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:18152 semapv:UnspecifiedMatching -OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:TNFRSF12A semapv:UnspecifiedMatching -OMIM:605914 TNFRSF12A skos:exactMatch ncbigene:51330 semapv:UnspecifiedMatching -OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:11587 semapv:UnspecifiedMatching -OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:TBL3 semapv:UnspecifiedMatching -OMIM:605915 TBL3 skos:exactMatch ncbigene:10607 semapv:UnspecifiedMatching -OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:15680 semapv:UnspecifiedMatching -OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:SPTBN5 semapv:UnspecifiedMatching -OMIM:605916 SPTBN5 skos:exactMatch ncbigene:51332 semapv:UnspecifiedMatching -OMIM:605917 TPX2 skos:exactMatch UMLS:C1412939 semapv:UnspecifiedMatching -OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:1249 semapv:UnspecifiedMatching -OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:TPX2 semapv:UnspecifiedMatching -OMIM:605917 TPX2 skos:exactMatch ncbigene:22974 semapv:UnspecifiedMatching -OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:11253 semapv:UnspecifiedMatching -OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:SPON2 semapv:UnspecifiedMatching -OMIM:605918 SPON2 skos:exactMatch ncbigene:10417 semapv:UnspecifiedMatching -OMIM:605920 STAU2 skos:exactMatch UMLS:C1420457 semapv:UnspecifiedMatching -OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:11371 semapv:UnspecifiedMatching -OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:STAU2 semapv:UnspecifiedMatching -OMIM:605920 STAU2 skos:exactMatch ncbigene:27067 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch UMLS:C1335879 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch UMLS:C1861451 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch UMLS:C2748557 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch UMLS:C4011726 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:11386 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:STIM1 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch ncbigene:6786 semapv:UnspecifiedMatching -OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:6051 semapv:UnspecifiedMatching -OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:IMPA2 semapv:UnspecifiedMatching -OMIM:605922 IMPA2 skos:exactMatch ncbigene:3613 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch UMLS:C1420330 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:11203 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:SOX8 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch ncbigene:30812 semapv:UnspecifiedMatching -OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:12756 semapv:UnspecifiedMatching -OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:WDR4 semapv:UnspecifiedMatching -OMIM:605924 WDR4 skos:exactMatch ncbigene:10785 semapv:UnspecifiedMatching -OMIM:605925 PCNT skos:exactMatch hgnc.symbol:16068 semapv:UnspecifiedMatching -OMIM:605925 PCNT skos:exactMatch hgnc.symbol:PCNT semapv:UnspecifiedMatching -OMIM:605925 PCNT skos:exactMatch ncbigene:5116 semapv:UnspecifiedMatching -OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:9394 semapv:UnspecifiedMatching -OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:PICK1 semapv:UnspecifiedMatching -OMIM:605926 PICK1 skos:exactMatch ncbigene:9463 semapv:UnspecifiedMatching -OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:7417 semapv:UnspecifiedMatching -OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:MTBP semapv:UnspecifiedMatching -OMIM:605927 MDM2BP skos:exactMatch ncbigene:27085 semapv:UnspecifiedMatching -OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:21496 semapv:UnspecifiedMatching -OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:ARFIP1 semapv:UnspecifiedMatching -OMIM:605928 ARFIP1 skos:exactMatch ncbigene:27236 semapv:UnspecifiedMatching -OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:11173 semapv:UnspecifiedMatching -OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:SNX2 semapv:UnspecifiedMatching -OMIM:605929 SNX2 skos:exactMatch ncbigene:6643 semapv:UnspecifiedMatching -OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:11174 semapv:UnspecifiedMatching -OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:SNX3 semapv:UnspecifiedMatching -OMIM:605930 SNX3 skos:exactMatch ncbigene:8724 semapv:UnspecifiedMatching -OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:11175 semapv:UnspecifiedMatching -OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:SNX4 semapv:UnspecifiedMatching -OMIM:605931 SNX4 skos:exactMatch ncbigene:8723 semapv:UnspecifiedMatching -OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:1048 semapv:UnspecifiedMatching -OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:BHMT2 semapv:UnspecifiedMatching -OMIM:605932 BHMT2 skos:exactMatch ncbigene:23743 semapv:UnspecifiedMatching -OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:18549 semapv:UnspecifiedMatching -OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:DCSTAMP semapv:UnspecifiedMatching -OMIM:605933 DCSTAMP skos:exactMatch ncbigene:81501 semapv:UnspecifiedMatching -OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:1053 semapv:UnspecifiedMatching -OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:BIN2 semapv:UnspecifiedMatching -OMIM:605936 BIN2 skos:exactMatch ncbigene:51411 semapv:UnspecifiedMatching -OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:14969 semapv:UnspecifiedMatching -OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:SNX5 semapv:UnspecifiedMatching -OMIM:605937 SNX5 skos:exactMatch ncbigene:27131 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch UMLS:C1826586 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch hgnc.symbol:3046 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch hgnc.symbol:PIGP semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch ncbigene:51227 semapv:UnspecifiedMatching -OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:9062 semapv:UnspecifiedMatching -OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:PLCD4 semapv:UnspecifiedMatching -OMIM:605939 PLCD4 skos:exactMatch ncbigene:84812 semapv:UnspecifiedMatching -OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:957 semapv:UnspecifiedMatching -OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:BASP1 semapv:UnspecifiedMatching -OMIM:605940 BASP1 skos:exactMatch ncbigene:10409 semapv:UnspecifiedMatching -OMIM:605941 SART1 skos:exactMatch hgnc.symbol:10538 semapv:UnspecifiedMatching -OMIM:605941 SART1 skos:exactMatch hgnc.symbol:SART1 semapv:UnspecifiedMatching -OMIM:605941 SART1 skos:exactMatch ncbigene:9092 semapv:UnspecifiedMatching -OMIM:605942 DSE skos:exactMatch hgnc.symbol:21144 semapv:UnspecifiedMatching -OMIM:605942 DSE skos:exactMatch hgnc.symbol:DSE semapv:UnspecifiedMatching -OMIM:605942 DSE skos:exactMatch ncbigene:29940 semapv:UnspecifiedMatching -OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:29644 semapv:UnspecifiedMatching -OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:GDE1 semapv:UnspecifiedMatching -OMIM:605943 GDE1 skos:exactMatch ncbigene:51573 semapv:UnspecifiedMatching -OMIM:605947 PIGL skos:exactMatch hgnc.symbol:8966 semapv:UnspecifiedMatching -OMIM:605947 PIGL skos:exactMatch hgnc.symbol:PIGL semapv:UnspecifiedMatching -OMIM:605947 PIGL skos:exactMatch ncbigene:9487 semapv:UnspecifiedMatching -OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:13308 semapv:UnspecifiedMatching -OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:GPRC5B semapv:UnspecifiedMatching -OMIM:605948 GPRC5B skos:exactMatch ncbigene:51704 semapv:UnspecifiedMatching -OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:13309 semapv:UnspecifiedMatching -OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:GPRC5C semapv:UnspecifiedMatching -OMIM:605949 GPRC5C skos:exactMatch ncbigene:55890 semapv:UnspecifiedMatching -OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:16075 semapv:UnspecifiedMatching -OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:RAB33B semapv:UnspecifiedMatching -OMIM:605950 RAB33B skos:exactMatch ncbigene:83452 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch UMLS:C1414139 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:3007 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:DPM3 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch ncbigene:54344 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch UMLS:C1423100 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:14973 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:SNX9 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch ncbigene:51429 semapv:UnspecifiedMatching -OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:2720 semapv:UnspecifiedMatching -OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:ASAP1 semapv:UnspecifiedMatching -OMIM:605953 ASAP1 skos:exactMatch ncbigene:50807 semapv:UnspecifiedMatching -OMIM:605954 FETUB skos:exactMatch hgnc.symbol:3658 semapv:UnspecifiedMatching -OMIM:605954 FETUB skos:exactMatch hgnc.symbol:FETUB semapv:UnspecifiedMatching -OMIM:605954 FETUB skos:exactMatch ncbigene:26998 semapv:UnspecifiedMatching -OMIM:605955 NKX6-2 skos:exactMatch UMLS:C1426161 semapv:UnspecifiedMatching -OMIM:605955 NKX6-2 skos:exactMatch UMLS:C4479653 semapv:UnspecifiedMatching -OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:19321 semapv:UnspecifiedMatching -OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:NKX6-2 semapv:UnspecifiedMatching -OMIM:605955 NKX6-2 skos:exactMatch ncbigene:84504 semapv:UnspecifiedMatching -OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:5331 semapv:UnspecifiedMatching -OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:NOD2 semapv:UnspecifiedMatching -OMIM:605956 NOD2 skos:exactMatch ncbigene:64127 semapv:UnspecifiedMatching -OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:30764 semapv:UnspecifiedMatching -OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:TRAIP semapv:UnspecifiedMatching -OMIM:605958 TRAIP skos:exactMatch ncbigene:10293 semapv:UnspecifiedMatching -OMIM:605959 hr44 antigen skos:exactMatch UMLS:C1853813 semapv:UnspecifiedMatching -OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:9138 semapv:UnspecifiedMatching -OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:EXOSC10 semapv:UnspecifiedMatching -OMIM:605960 EXOSC10 skos:exactMatch ncbigene:5394 semapv:UnspecifiedMatching -OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:9089 semapv:UnspecifiedMatching -OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:PLRG1 semapv:UnspecifiedMatching -OMIM:605961 PLRG1 skos:exactMatch ncbigene:5356 semapv:UnspecifiedMatching -OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:16896 semapv:UnspecifiedMatching -OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:RABEPK semapv:UnspecifiedMatching -OMIM:605962 RABEPK skos:exactMatch ncbigene:10244 semapv:UnspecifiedMatching -OMIM:605963 SNX17 skos:exactMatch UMLS:C1423106 semapv:UnspecifiedMatching -OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:14979 semapv:UnspecifiedMatching -OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:SNX17 semapv:UnspecifiedMatching -OMIM:605963 SNX17 skos:exactMatch ncbigene:9784 semapv:UnspecifiedMatching -OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:14978 semapv:UnspecifiedMatching -OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:SNX15 semapv:UnspecifiedMatching -OMIM:605964 SNX15 skos:exactMatch ncbigene:29907 semapv:UnspecifiedMatching -OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:18749 semapv:UnspecifiedMatching -OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:RIN1 semapv:UnspecifiedMatching -OMIM:605965 RIN1 skos:exactMatch ncbigene:9610 semapv:UnspecifiedMatching -OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:5026 semapv:UnspecifiedMatching -OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:HNF4G semapv:UnspecifiedMatching -OMIM:605966 HNF4G skos:exactMatch ncbigene:3174 semapv:UnspecifiedMatching -OMIM:605967 acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching -OMIM:605967 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching -OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:9977 semapv:UnspecifiedMatching -OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:RFPL1 semapv:UnspecifiedMatching -OMIM:605968 RFPL1 skos:exactMatch ncbigene:5988 semapv:UnspecifiedMatching -OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:9979 semapv:UnspecifiedMatching -OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:RFPL2 semapv:UnspecifiedMatching -OMIM:605969 RFPL2 skos:exactMatch ncbigene:10739 semapv:UnspecifiedMatching -OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:9980 semapv:UnspecifiedMatching -OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:RFPL3 semapv:UnspecifiedMatching -OMIM:605970 RFPL3 skos:exactMatch ncbigene:10738 semapv:UnspecifiedMatching -OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:9981 semapv:UnspecifiedMatching -OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:RFPL3S semapv:UnspecifiedMatching -OMIM:605971 RFPL3S skos:exactMatch ncbigene:10737 semapv:UnspecifiedMatching -OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:9978 semapv:UnspecifiedMatching -OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:RFPL1S semapv:UnspecifiedMatching -OMIM:605972 RFPL1S skos:exactMatch ncbigene:10740 semapv:UnspecifiedMatching -OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:30915 semapv:UnspecifiedMatching -OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:DCAF7 semapv:UnspecifiedMatching -OMIM:605973 DCAF7 skos:exactMatch ncbigene:10238 semapv:UnspecifiedMatching -OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:16939 semapv:UnspecifiedMatching -OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:SLU7 semapv:UnspecifiedMatching -OMIM:605974 SLU7 skos:exactMatch ncbigene:10569 semapv:UnspecifiedMatching -OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:16638 semapv:UnspecifiedMatching -OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:SRRM1 semapv:UnspecifiedMatching -OMIM:605975 SRRM1 skos:exactMatch ncbigene:10250 semapv:UnspecifiedMatching -OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:16764 semapv:UnspecifiedMatching -OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:ZBTB6 semapv:UnspecifiedMatching -OMIM:605976 ZBTB6 skos:exactMatch ncbigene:10773 semapv:UnspecifiedMatching -OMIM:605977 IMMP2L skos:exactMatch UMLS:C1422779 semapv:UnspecifiedMatching -OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:14598 semapv:UnspecifiedMatching -OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:IMMP2L semapv:UnspecifiedMatching -OMIM:605977 IMMP2L skos:exactMatch ncbigene:83943 semapv:UnspecifiedMatching -OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:1908 semapv:UnspecifiedMatching -OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:VPS13A semapv:UnspecifiedMatching -OMIM:605978 VPS13A skos:exactMatch ncbigene:23230 semapv:UnspecifiedMatching -OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:15484 semapv:UnspecifiedMatching -OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:SNAPC5 semapv:UnspecifiedMatching -OMIM:605979 SNAPC5 skos:exactMatch ncbigene:10302 semapv:UnspecifiedMatching -OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:16390 semapv:UnspecifiedMatching -OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:NOD1 semapv:UnspecifiedMatching -OMIM:605980 NOD1 skos:exactMatch ncbigene:10392 semapv:UnspecifiedMatching -OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:16808 semapv:UnspecifiedMatching -OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:UBR1 semapv:UnspecifiedMatching -OMIM:605981 UBR1 skos:exactMatch ncbigene:197131 semapv:UnspecifiedMatching -OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:9302 semapv:UnspecifiedMatching -OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:PPP2R1A semapv:UnspecifiedMatching -OMIM:605983 PPP2R1A skos:exactMatch ncbigene:5518 semapv:UnspecifiedMatching -OMIM:605984 EED skos:exactMatch hgnc.symbol:3188 semapv:UnspecifiedMatching -OMIM:605984 EED skos:exactMatch hgnc.symbol:EED semapv:UnspecifiedMatching -OMIM:605984 EED skos:exactMatch ncbigene:8726 semapv:UnspecifiedMatching -OMIM:605986 STRAP skos:exactMatch hgnc.symbol:30796 semapv:UnspecifiedMatching -OMIM:605986 STRAP skos:exactMatch hgnc.symbol:STRAP semapv:UnspecifiedMatching -OMIM:605986 STRAP skos:exactMatch ncbigene:11171 semapv:UnspecifiedMatching -OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:16861 semapv:UnspecifiedMatching -OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:PIAS3 semapv:UnspecifiedMatching -OMIM:605987 PIAS3 skos:exactMatch ncbigene:10401 semapv:UnspecifiedMatching -OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:17642 semapv:UnspecifiedMatching -OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:DCLRE1C semapv:UnspecifiedMatching -OMIM:605988 DCLRE1C skos:exactMatch ncbigene:64421 semapv:UnspecifiedMatching -OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:17002 semapv:UnspecifiedMatching -OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:PIAS4 semapv:UnspecifiedMatching -OMIM:605989 PIAS4 skos:exactMatch ncbigene:51588 semapv:UnspecifiedMatching -OMIM:605990 nephrolithiasis, uric acid, susceptibility to skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching -OMIM:605991 NGEF skos:exactMatch hgnc.symbol:7807 semapv:UnspecifiedMatching -OMIM:605991 NGEF skos:exactMatch hgnc.symbol:NGEF semapv:UnspecifiedMatching -OMIM:605991 NGEF skos:exactMatch ncbigene:25791 semapv:UnspecifiedMatching -OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:14216 semapv:UnspecifiedMatching -OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:LHX5 semapv:UnspecifiedMatching -OMIM:605992 LHX5 skos:exactMatch ncbigene:64211 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch UMLS:C1418818 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:9279 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:PDP1 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch ncbigene:54704 semapv:UnspecifiedMatching -OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:17449 semapv:UnspecifiedMatching -OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:CYP39A1 semapv:UnspecifiedMatching -OMIM:605994 CYP39A1 skos:exactMatch ncbigene:51302 semapv:UnspecifiedMatching -OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:16636 semapv:UnspecifiedMatching -OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:KIF1B semapv:UnspecifiedMatching -OMIM:605995 KIF1B skos:exactMatch ncbigene:23095 semapv:UnspecifiedMatching -OMIM:605996 DXO skos:exactMatch hgnc.symbol:2992 semapv:UnspecifiedMatching -OMIM:605996 DXO skos:exactMatch hgnc.symbol:DXO semapv:UnspecifiedMatching -OMIM:605996 DXO skos:exactMatch ncbigene:1797 semapv:UnspecifiedMatching -OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:9306 semapv:UnspecifiedMatching -OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:PPP2R2C semapv:UnspecifiedMatching -OMIM:605997 PPP2R2C skos:exactMatch ncbigene:5522 semapv:UnspecifiedMatching -OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:16915 semapv:UnspecifiedMatching -OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:HAX1 semapv:UnspecifiedMatching -OMIM:605998 HAX1 skos:exactMatch ncbigene:10456 semapv:UnspecifiedMatching -OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:16916 semapv:UnspecifiedMatching -OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:CLEC10A semapv:UnspecifiedMatching -OMIM:605999 CLEC10A skos:exactMatch ncbigene:10462 semapv:UnspecifiedMatching -OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:1142 semapv:UnspecifiedMatching -OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:BTNL2 semapv:UnspecifiedMatching -OMIM:606000 BTNL2 skos:exactMatch ncbigene:56244 semapv:UnspecifiedMatching -OMIM:606001 IL32 skos:exactMatch hgnc.symbol:16830 semapv:UnspecifiedMatching -OMIM:606001 IL32 skos:exactMatch hgnc.symbol:IL32 semapv:UnspecifiedMatching -OMIM:606001 IL32 skos:exactMatch ncbigene:9235 semapv:UnspecifiedMatching -OMIM:606003 transaldolase deficiency skos:exactMatch Orphanet:101028 semapv:UnspecifiedMatching -OMIM:606003 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching -OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:17842 semapv:UnspecifiedMatching -OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:GGA1 semapv:UnspecifiedMatching -OMIM:606004 GGA1 skos:exactMatch ncbigene:26088 semapv:UnspecifiedMatching -OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:16064 semapv:UnspecifiedMatching -OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:GGA2 semapv:UnspecifiedMatching -OMIM:606005 GGA2 skos:exactMatch ncbigene:23062 semapv:UnspecifiedMatching -OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:17079 semapv:UnspecifiedMatching -OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:GGA3 semapv:UnspecifiedMatching -OMIM:606006 GGA3 skos:exactMatch ncbigene:23163 semapv:UnspecifiedMatching -OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:14121 semapv:UnspecifiedMatching -OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:POLR3K semapv:UnspecifiedMatching -OMIM:606007 POLR3K skos:exactMatch ncbigene:51728 semapv:UnspecifiedMatching -OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:7830 semapv:UnspecifiedMatching -OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:NKG7 semapv:UnspecifiedMatching -OMIM:606008 NKG7 skos:exactMatch ncbigene:4818 semapv:UnspecifiedMatching -OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:50800 semapv:UnspecifiedMatching -OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:DUX4 semapv:UnspecifiedMatching -OMIM:606009 DUX4 skos:exactMatch ncbigene:100288687 semapv:UnspecifiedMatching -OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:7993 semapv:UnspecifiedMatching -OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:NRBP1 semapv:UnspecifiedMatching -OMIM:606010 NRBP1 skos:exactMatch ncbigene:29959 semapv:UnspecifiedMatching -OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:17149 semapv:UnspecifiedMatching -OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:VSIG2 semapv:UnspecifiedMatching -OMIM:606011 VSIG2 skos:exactMatch ncbigene:23584 semapv:UnspecifiedMatching -OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:13584 semapv:UnspecifiedMatching -OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:FBXO5 semapv:UnspecifiedMatching -OMIM:606013 FBXO5 skos:exactMatch ncbigene:26271 semapv:UnspecifiedMatching -OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:449 semapv:UnspecifiedMatching -OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:ALX3 semapv:UnspecifiedMatching -OMIM:606014 ALX3 skos:exactMatch ncbigene:257 semapv:UnspecifiedMatching -OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:14315 semapv:UnspecifiedMatching -OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:FCMR semapv:UnspecifiedMatching -OMIM:606015 FAIM3 skos:exactMatch ncbigene:9214 semapv:UnspecifiedMatching -OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:23177 semapv:UnspecifiedMatching -OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:KEAP1 semapv:UnspecifiedMatching -OMIM:606016 KEAP1 skos:exactMatch ncbigene:9817 semapv:UnspecifiedMatching -OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:9191 semapv:UnspecifiedMatching -OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:POLR2D semapv:UnspecifiedMatching -OMIM:606017 POLR2D skos:exactMatch ncbigene:5433 semapv:UnspecifiedMatching -OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:3173 semapv:UnspecifiedMatching -OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:EDIL3 semapv:UnspecifiedMatching -OMIM:606018 EDIL3 skos:exactMatch ncbigene:10085 semapv:UnspecifiedMatching -OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:17035 semapv:UnspecifiedMatching -OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:EXOSC8 semapv:UnspecifiedMatching -OMIM:606019 EXOSC8 skos:exactMatch ncbigene:11340 semapv:UnspecifiedMatching -OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:20300 semapv:UnspecifiedMatching -OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:OIP5 semapv:UnspecifiedMatching -OMIM:606020 OIP5 skos:exactMatch ncbigene:11339 semapv:UnspecifiedMatching -OMIM:606021 PRAME skos:exactMatch hgnc.symbol:9336 semapv:UnspecifiedMatching -OMIM:606021 PRAME skos:exactMatch hgnc.symbol:PRAME semapv:UnspecifiedMatching -OMIM:606021 PRAME skos:exactMatch ncbigene:23532 semapv:UnspecifiedMatching -OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:8056 semapv:UnspecifiedMatching -OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:NUDT9 semapv:UnspecifiedMatching -OMIM:606022 NUDT9 skos:exactMatch ncbigene:53343 semapv:UnspecifiedMatching -OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:9195 semapv:UnspecifiedMatching -OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:POLR2H semapv:UnspecifiedMatching -OMIM:606023 POLR2H skos:exactMatch ncbigene:5437 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch UMLS:C1538150 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:13503 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:ZBTB20 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch ncbigene:26137 semapv:UnspecifiedMatching -OMIM:606026 NELFA skos:exactMatch hgnc.symbol:12768 semapv:UnspecifiedMatching -OMIM:606026 NELFA skos:exactMatch hgnc.symbol:NELFA semapv:UnspecifiedMatching -OMIM:606026 NELFA skos:exactMatch ncbigene:7469 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch UMLS:C1413684 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:2324 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:CPSF1 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch ncbigene:29894 semapv:UnspecifiedMatching -OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:2325 semapv:UnspecifiedMatching -OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:CPSF2 semapv:UnspecifiedMatching -OMIM:606028 CPSF2 skos:exactMatch ncbigene:53981 semapv:UnspecifiedMatching -OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:2326 semapv:UnspecifiedMatching -OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:CPSF3 semapv:UnspecifiedMatching -OMIM:606029 CPSF3 skos:exactMatch ncbigene:51692 semapv:UnspecifiedMatching -OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:17157 semapv:UnspecifiedMatching -OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:EDC4 semapv:UnspecifiedMatching -OMIM:606030 EDC4 skos:exactMatch ncbigene:23644 semapv:UnspecifiedMatching -OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:12758 semapv:UnspecifiedMatching -OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:WDR6 semapv:UnspecifiedMatching -OMIM:606031 WDR6 skos:exactMatch ncbigene:11180 semapv:UnspecifiedMatching -OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:16639 semapv:UnspecifiedMatching -OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:SRRM2 semapv:UnspecifiedMatching -OMIM:606032 SRRM2 skos:exactMatch ncbigene:23524 semapv:UnspecifiedMatching -OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:9198 semapv:UnspecifiedMatching -OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:POLR2K semapv:UnspecifiedMatching -OMIM:606033 POLR2K skos:exactMatch ncbigene:5440 semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1425573 semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:18518 semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:RNASEH2A semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch ncbigene:10535 semapv:UnspecifiedMatching -OMIM:606036 ARNT2 skos:exactMatch UMLS:C1332115 semapv:UnspecifiedMatching -OMIM:606036 ARNT2 skos:exactMatch UMLS:C4014708 semapv:UnspecifiedMatching -OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:16876 semapv:UnspecifiedMatching -OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:ARNT2 semapv:UnspecifiedMatching -OMIM:606036 ARNT2 skos:exactMatch ncbigene:9915 semapv:UnspecifiedMatching -OMIM:606037 CD96 skos:exactMatch hgnc.symbol:16892 semapv:UnspecifiedMatching -OMIM:606037 CD96 skos:exactMatch hgnc.symbol:CD96 semapv:UnspecifiedMatching -OMIM:606037 CD96 skos:exactMatch ncbigene:10225 semapv:UnspecifiedMatching -OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:13935 semapv:UnspecifiedMatching -OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:LY6G6D semapv:UnspecifiedMatching -OMIM:606038 LY6G6D skos:exactMatch ncbigene:58530 semapv:UnspecifiedMatching -OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:16824 semapv:UnspecifiedMatching -OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:HCAR3 semapv:UnspecifiedMatching -OMIM:606039 HCAR3 skos:exactMatch ncbigene:8843 semapv:UnspecifiedMatching -OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:12759 semapv:UnspecifiedMatching -OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:WRAP73 semapv:UnspecifiedMatching -OMIM:606040 WDR8 skos:exactMatch ncbigene:49856 semapv:UnspecifiedMatching -OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:11220 semapv:UnspecifiedMatching -OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:SPARCL1 semapv:UnspecifiedMatching -OMIM:606041 SPARCL1 skos:exactMatch ncbigene:8404 semapv:UnspecifiedMatching -OMIM:606042 MYNN skos:exactMatch hgnc.symbol:14955 semapv:UnspecifiedMatching -OMIM:606042 MYNN skos:exactMatch hgnc.symbol:MYNN semapv:UnspecifiedMatching -OMIM:606042 MYNN skos:exactMatch ncbigene:55892 semapv:UnspecifiedMatching -OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:15489 semapv:UnspecifiedMatching -OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:ZNF331 semapv:UnspecifiedMatching -OMIM:606043 ZNF331 skos:exactMatch ncbigene:55422 semapv:UnspecifiedMatching -OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:11328 semapv:UnspecifiedMatching -OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:ZNRD2 semapv:UnspecifiedMatching -OMIM:606044 ZNRD2 skos:exactMatch ncbigene:10534 semapv:UnspecifiedMatching -OMIM:606045 IFT122 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching -OMIM:606045 IFT122 skos:exactMatch UMLS:C1825573 semapv:UnspecifiedMatching -OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:13556 semapv:UnspecifiedMatching -OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:IFT122 semapv:UnspecifiedMatching -OMIM:606045 IFT122 skos:exactMatch ncbigene:55764 semapv:UnspecifiedMatching -OMIM:606046 STX18 skos:exactMatch hgnc.symbol:15942 semapv:UnspecifiedMatching -OMIM:606046 STX18 skos:exactMatch hgnc.symbol:STX18 semapv:UnspecifiedMatching -OMIM:606046 STX18 skos:exactMatch ncbigene:53407 semapv:UnspecifiedMatching -OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:16309 semapv:UnspecifiedMatching -OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:LILRA5 semapv:UnspecifiedMatching -OMIM:606047 LILRA5 skos:exactMatch ncbigene:353514 semapv:UnspecifiedMatching -OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:15505 semapv:UnspecifiedMatching -OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:MBOAT7 semapv:UnspecifiedMatching -OMIM:606048 MBOAT7 skos:exactMatch ncbigene:79143 semapv:UnspecifiedMatching -OMIM:606050 UBD skos:exactMatch hgnc.symbol:18795 semapv:UnspecifiedMatching -OMIM:606050 UBD skos:exactMatch hgnc.symbol:UBD semapv:UnspecifiedMatching -OMIM:606050 UBD skos:exactMatch ncbigene:10537 semapv:UnspecifiedMatching -OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:17499 semapv:UnspecifiedMatching -OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:SERGEF semapv:UnspecifiedMatching -OMIM:606051 SERGEF skos:exactMatch ncbigene:26297 semapv:UnspecifiedMatching -OMIM:606054 propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching -OMIM:606054 propionic acidemia skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching -OMIM:606054 propionic acidemia skos:exactMatch UMLS:C4551877 semapv:UnspecifiedMatching -OMIM:606055 PCTP skos:exactMatch hgnc.symbol:8752 semapv:UnspecifiedMatching -OMIM:606055 PCTP skos:exactMatch hgnc.symbol:PCTP semapv:UnspecifiedMatching -OMIM:606055 PCTP skos:exactMatch ncbigene:58488 semapv:UnspecifiedMatching -OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:16629 semapv:UnspecifiedMatching -OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:RAPGEF3 semapv:UnspecifiedMatching -OMIM:606057 RAPGEF3 skos:exactMatch ncbigene:10411 semapv:UnspecifiedMatching -OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:16626 semapv:UnspecifiedMatching -OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:RAPGEF4 semapv:UnspecifiedMatching -OMIM:606058 RAPGEF4 skos:exactMatch ncbigene:11069 semapv:UnspecifiedMatching -OMIM:606059 PKIA skos:exactMatch hgnc.symbol:9017 semapv:UnspecifiedMatching -OMIM:606059 PKIA skos:exactMatch hgnc.symbol:PKIA semapv:UnspecifiedMatching -OMIM:606059 PKIA skos:exactMatch ncbigene:5569 semapv:UnspecifiedMatching -OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:28908 semapv:UnspecifiedMatching -OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:DNAJC12 semapv:UnspecifiedMatching -OMIM:606060 DNAJC12 skos:exactMatch ncbigene:56521 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch UMLS:C1420609 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch UMLS:C1969657 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:11598 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:TBX20 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch ncbigene:57057 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch UMLS:C1822780 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch UMLS:C5394608 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:2468 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:SMC3 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch ncbigene:9126 semapv:UnspecifiedMatching -OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:3511 semapv:UnspecifiedMatching -OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:EXO1 semapv:UnspecifiedMatching -OMIM:606063 EXO1 skos:exactMatch ncbigene:9156 semapv:UnspecifiedMatching -OMIM:606064 CD248 skos:exactMatch hgnc.symbol:18219 semapv:UnspecifiedMatching -OMIM:606064 CD248 skos:exactMatch hgnc.symbol:CD248 semapv:UnspecifiedMatching -OMIM:606064 CD248 skos:exactMatch ncbigene:57124 semapv:UnspecifiedMatching -OMIM:606065 ACKR4 skos:exactMatch UMLS:C1332704 semapv:UnspecifiedMatching -OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:1611 semapv:UnspecifiedMatching -OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:ACKR4 semapv:UnspecifiedMatching -OMIM:606065 ACKR4 skos:exactMatch ncbigene:51554 semapv:UnspecifiedMatching -OMIM:606066 LHX9 skos:exactMatch hgnc.symbol:14222 semapv:UnspecifiedMatching -OMIM:606066 LHX9 skos:exactMatch hgnc.symbol:LHX9 semapv:UnspecifiedMatching -OMIM:606066 LHX9 skos:exactMatch ncbigene:56956 semapv:UnspecifiedMatching -OMIM:606067 OTOR skos:exactMatch hgnc.symbol:8517 semapv:UnspecifiedMatching -OMIM:606067 OTOR skos:exactMatch hgnc.symbol:OTOR semapv:UnspecifiedMatching -OMIM:606067 OTOR skos:exactMatch ncbigene:56914 semapv:UnspecifiedMatching -OMIM:606068 retinitis pigmentosa 28 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:606068 retinitis pigmentosa 28 skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching -OMIM:606069 hemochromatosis, iia 4 skos:exactMatch Orphanet:139491 semapv:UnspecifiedMatching -OMIM:606069 hemochromatosis, iia 4 skos:exactMatch UMLS:C1853733 semapv:UnspecifiedMatching -OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:29838 semapv:UnspecifiedMatching -OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:NDOR1 semapv:UnspecifiedMatching -OMIM:606073 NDOR1 skos:exactMatch ncbigene:27158 semapv:UnspecifiedMatching -OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:20460 semapv:UnspecifiedMatching -OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:GBGT1 semapv:UnspecifiedMatching -OMIM:606074 GBGT1 skos:exactMatch ncbigene:26301 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C1418458 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C1849096 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C1868097 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch UMLS:C4015307 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch hgnc.symbol:1160 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch hgnc.symbol:TWNK semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch ncbigene:56652 semapv:UnspecifiedMatching -OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:8981 semapv:UnspecifiedMatching -OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:PIK3R3 semapv:UnspecifiedMatching -OMIM:606076 PIK3R3 skos:exactMatch ncbigene:8503 semapv:UnspecifiedMatching -OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:14959 semapv:UnspecifiedMatching -OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:RBM15 semapv:UnspecifiedMatching -OMIM:606077 RBM15 skos:exactMatch ncbigene:64783 semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch UMLS:C1422572 semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:14334 semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:MRTFA semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch ncbigene:57591 semapv:UnspecifiedMatching -OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:30375 semapv:UnspecifiedMatching -OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:CD163L1 semapv:UnspecifiedMatching -OMIM:606079 CD163L1 skos:exactMatch ncbigene:283316 semapv:UnspecifiedMatching -OMIM:606080 CHIA skos:exactMatch hgnc.symbol:17432 semapv:UnspecifiedMatching -OMIM:606080 CHIA skos:exactMatch hgnc.symbol:CHIA semapv:UnspecifiedMatching -OMIM:606080 CHIA skos:exactMatch ncbigene:27159 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch UMLS:C1420857 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:11985 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:TOMM70 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch ncbigene:9868 semapv:UnspecifiedMatching -OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:30064 semapv:UnspecifiedMatching -OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:PBRM1 semapv:UnspecifiedMatching -OMIM:606083 PBRM1 skos:exactMatch ncbigene:55193 semapv:UnspecifiedMatching -OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:17014 semapv:UnspecifiedMatching -OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:CDC42EP1 semapv:UnspecifiedMatching -OMIM:606084 CDC42EP1 skos:exactMatch ncbigene:11135 semapv:UnspecifiedMatching -OMIM:606085 TES skos:exactMatch hgnc.symbol:14620 semapv:UnspecifiedMatching -OMIM:606085 TES skos:exactMatch hgnc.symbol:TES semapv:UnspecifiedMatching -OMIM:606085 TES skos:exactMatch ncbigene:26136 semapv:UnspecifiedMatching -OMIM:606086 EIF5B skos:exactMatch UMLS:C1429001 semapv:UnspecifiedMatching -OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:30793 semapv:UnspecifiedMatching -OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:EIF5B semapv:UnspecifiedMatching -OMIM:606086 EIF5B skos:exactMatch ncbigene:9669 semapv:UnspecifiedMatching -OMIM:606087 SYNM skos:exactMatch hgnc.symbol:24466 semapv:UnspecifiedMatching -OMIM:606087 SYNM skos:exactMatch hgnc.symbol:SYNM semapv:UnspecifiedMatching -OMIM:606087 SYNM skos:exactMatch ncbigene:23336 semapv:UnspecifiedMatching -OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:9036 semapv:UnspecifiedMatching -OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:PLA2G4B semapv:UnspecifiedMatching -OMIM:606088 PLA2G4B skos:exactMatch ncbigene:100137049 semapv:UnspecifiedMatching -OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:1022 semapv:UnspecifiedMatching -OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:BCYRN1 semapv:UnspecifiedMatching -OMIM:606089 BCYRN1 skos:exactMatch ncbigene:618 semapv:UnspecifiedMatching -OMIM:606090 CROT skos:exactMatch hgnc.symbol:2366 semapv:UnspecifiedMatching -OMIM:606090 CROT skos:exactMatch hgnc.symbol:CROT semapv:UnspecifiedMatching -OMIM:606090 CROT skos:exactMatch ncbigene:54677 semapv:UnspecifiedMatching -OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:15620 semapv:UnspecifiedMatching -OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:SIGLEC10 semapv:UnspecifiedMatching -OMIM:606091 SIGLEC10 skos:exactMatch ncbigene:89790 semapv:UnspecifiedMatching -OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:24581 semapv:UnspecifiedMatching -OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:DNAJC14 semapv:UnspecifiedMatching -OMIM:606092 DNAJC14 skos:exactMatch ncbigene:85406 semapv:UnspecifiedMatching -OMIM:606093 PPIG skos:exactMatch hgnc.symbol:14650 semapv:UnspecifiedMatching -OMIM:606093 PPIG skos:exactMatch hgnc.symbol:PPIG semapv:UnspecifiedMatching -OMIM:606093 PPIG skos:exactMatch ncbigene:9360 semapv:UnspecifiedMatching -OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:15482 semapv:UnspecifiedMatching -OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:SIGLEC12 semapv:UnspecifiedMatching -OMIM:606094 SIGLEC12 skos:exactMatch ncbigene:89858 semapv:UnspecifiedMatching -OMIM:606095 PPIH skos:exactMatch hgnc.symbol:14651 semapv:UnspecifiedMatching -OMIM:606095 PPIH skos:exactMatch hgnc.symbol:PPIH semapv:UnspecifiedMatching -OMIM:606095 PPIH skos:exactMatch ncbigene:10465 semapv:UnspecifiedMatching -OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:15788 semapv:UnspecifiedMatching -OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:LGALS12 semapv:UnspecifiedMatching -OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch ncbigene:85329 semapv:UnspecifiedMatching -OMIM:606097 PIGN skos:exactMatch hgnc.symbol:8967 semapv:UnspecifiedMatching -OMIM:606097 PIGN skos:exactMatch hgnc.symbol:PIGN semapv:UnspecifiedMatching -OMIM:606097 PIGN skos:exactMatch ncbigene:23556 semapv:UnspecifiedMatching -OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:14970 semapv:UnspecifiedMatching -OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:SNX6 semapv:UnspecifiedMatching -OMIM:606098 SNX6 skos:exactMatch ncbigene:58533 semapv:UnspecifiedMatching -OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:6569 semapv:UnspecifiedMatching -OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:LGALS8 semapv:UnspecifiedMatching -OMIM:606099 LGALS8 skos:exactMatch ncbigene:3964 semapv:UnspecifiedMatching -OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:3337 semapv:UnspecifiedMatching -OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:ADGRE2 semapv:UnspecifiedMatching -OMIM:606100 ADGRE2 skos:exactMatch ncbigene:30817 semapv:UnspecifiedMatching -OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:23647 semapv:UnspecifiedMatching -OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:ADGRE3 semapv:UnspecifiedMatching -OMIM:606101 ADGRE3 skos:exactMatch ncbigene:84658 semapv:UnspecifiedMatching -OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:8996 semapv:UnspecifiedMatching -OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:PIP5K1C semapv:UnspecifiedMatching -OMIM:606102 PIP5K1C skos:exactMatch ncbigene:23396 semapv:UnspecifiedMatching -OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:21595 semapv:UnspecifiedMatching -OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:SESN1 semapv:UnspecifiedMatching -OMIM:606103 SESN1 skos:exactMatch ncbigene:27244 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch UMLS:C1822758 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:18798 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:SLC44A1 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch ncbigene:23446 semapv:UnspecifiedMatching -OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:17292 semapv:UnspecifiedMatching -OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:SLC44A2 semapv:UnspecifiedMatching -OMIM:606106 SLC44A2 skos:exactMatch ncbigene:57153 semapv:UnspecifiedMatching -OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:13941 semapv:UnspecifiedMatching -OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:SLC44A4 semapv:UnspecifiedMatching -OMIM:606107 SLC44A4 skos:exactMatch ncbigene:80736 semapv:UnspecifiedMatching -OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:9275 semapv:UnspecifiedMatching -OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:PPM1A semapv:UnspecifiedMatching -OMIM:606108 PPM1A skos:exactMatch ncbigene:5494 semapv:UnspecifiedMatching -OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:24306 semapv:UnspecifiedMatching -OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:NUDCD1 semapv:UnspecifiedMatching -OMIM:606109 NUDCD1 skos:exactMatch ncbigene:84955 semapv:UnspecifiedMatching -OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:29604 semapv:UnspecifiedMatching -OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:LYNX1 semapv:UnspecifiedMatching -OMIM:606110 LYNX1 skos:exactMatch ncbigene:66004 semapv:UnspecifiedMatching -OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:20867 semapv:UnspecifiedMatching -OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:MCHR2 semapv:UnspecifiedMatching -OMIM:606111 MCHR2 skos:exactMatch ncbigene:84539 semapv:UnspecifiedMatching -OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:30327 semapv:UnspecifiedMatching -OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:RPP14 semapv:UnspecifiedMatching -OMIM:606112 RPP14 skos:exactMatch ncbigene:11102 semapv:UnspecifiedMatching -OMIM:606113 POP7 skos:exactMatch UMLS:C1426553 semapv:UnspecifiedMatching -OMIM:606113 POP7 skos:exactMatch hgnc.symbol:19949 semapv:UnspecifiedMatching -OMIM:606113 POP7 skos:exactMatch hgnc.symbol:POP7 semapv:UnspecifiedMatching -OMIM:606113 POP7 skos:exactMatch ncbigene:10248 semapv:UnspecifiedMatching -OMIM:606114 POP4 skos:exactMatch UMLS:C1428930 semapv:UnspecifiedMatching -OMIM:606114 POP4 skos:exactMatch hgnc.symbol:30081 semapv:UnspecifiedMatching -OMIM:606114 POP4 skos:exactMatch hgnc.symbol:POP4 semapv:UnspecifiedMatching -OMIM:606114 POP4 skos:exactMatch ncbigene:10775 semapv:UnspecifiedMatching -OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:17688 semapv:UnspecifiedMatching -OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:RPP30 semapv:UnspecifiedMatching -OMIM:606115 RPP30 skos:exactMatch ncbigene:10556 semapv:UnspecifiedMatching -OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:30329 semapv:UnspecifiedMatching -OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:RPP38 semapv:UnspecifiedMatching -OMIM:606116 RPP38 skos:exactMatch ncbigene:10557 semapv:UnspecifiedMatching -OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:20992 semapv:UnspecifiedMatching -OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:RPP40 semapv:UnspecifiedMatching -OMIM:606117 RPP40 skos:exactMatch ncbigene:10799 semapv:UnspecifiedMatching -OMIM:606118 HPS3 skos:exactMatch UMLS:C1423606 semapv:UnspecifiedMatching -OMIM:606118 HPS3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching -OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:15597 semapv:UnspecifiedMatching -OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:HPS3 semapv:UnspecifiedMatching -OMIM:606118 HPS3 skos:exactMatch ncbigene:84343 semapv:UnspecifiedMatching -OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:18746 semapv:UnspecifiedMatching -OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:SLURP1 semapv:UnspecifiedMatching -OMIM:606119 SLURP1 skos:exactMatch ncbigene:57152 semapv:UnspecifiedMatching -OMIM:606121 CRCP skos:exactMatch hgnc.symbol:17888 semapv:UnspecifiedMatching -OMIM:606121 CRCP skos:exactMatch hgnc.symbol:CRCP semapv:UnspecifiedMatching -OMIM:606121 CRCP skos:exactMatch ncbigene:27297 semapv:UnspecifiedMatching -OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:11915 semapv:UnspecifiedMatching -OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:TNFRSF19 semapv:UnspecifiedMatching -OMIM:606122 TNFRSF19 skos:exactMatch ncbigene:55504 semapv:UnspecifiedMatching -OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:13430 semapv:UnspecifiedMatching -OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:TRIM17 semapv:UnspecifiedMatching -OMIM:606123 RNF16 skos:exactMatch ncbigene:51127 semapv:UnspecifiedMatching -OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:13431 semapv:UnspecifiedMatching -OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:TRIM49 semapv:UnspecifiedMatching -OMIM:606124 RNF18 skos:exactMatch ncbigene:57093 semapv:UnspecifiedMatching -OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:15579 semapv:UnspecifiedMatching -OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:TRIM8 semapv:UnspecifiedMatching -OMIM:606125 TRIM8 skos:exactMatch ncbigene:81603 semapv:UnspecifiedMatching -OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:16657 semapv:UnspecifiedMatching -OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:BCL2L14 semapv:UnspecifiedMatching -OMIM:606126 BCL2L14 skos:exactMatch ncbigene:79370 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch UMLS:C1423951 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:16067 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:MYOCD semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch ncbigene:93649 semapv:UnspecifiedMatching -OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:14646 semapv:UnspecifiedMatching -OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:RNF26 semapv:UnspecifiedMatching -OMIM:606130 RNF26 skos:exactMatch ncbigene:79102 semapv:UnspecifiedMatching -OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:16007 semapv:UnspecifiedMatching -OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:TRIM63 semapv:UnspecifiedMatching -OMIM:606131 TRIM63 skos:exactMatch ncbigene:84676 semapv:UnspecifiedMatching -OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:16263 semapv:UnspecifiedMatching -OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:CDC42EP2 semapv:UnspecifiedMatching -OMIM:606132 CDC42EP2 skos:exactMatch ncbigene:10435 semapv:UnspecifiedMatching -OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:16943 semapv:UnspecifiedMatching -OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:CDC42EP3 semapv:UnspecifiedMatching -OMIM:606133 CDC42EP3 skos:exactMatch ncbigene:10602 semapv:UnspecifiedMatching -OMIM:606134 REV1 skos:exactMatch UMLS:C1826797 semapv:UnspecifiedMatching -OMIM:606134 REV1 skos:exactMatch hgnc.symbol:14060 semapv:UnspecifiedMatching -OMIM:606134 REV1 skos:exactMatch hgnc.symbol:REV1 semapv:UnspecifiedMatching -OMIM:606134 REV1 skos:exactMatch ncbigene:51455 semapv:UnspecifiedMatching -OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:6362 semapv:UnspecifiedMatching -OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:KLK14 semapv:UnspecifiedMatching -OMIM:606135 KLK14 skos:exactMatch ncbigene:43847 semapv:UnspecifiedMatching -OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:9874 semapv:UnspecifiedMatching -OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:RASAL2 semapv:UnspecifiedMatching -OMIM:606136 RASAL2 skos:exactMatch ncbigene:9462 semapv:UnspecifiedMatching -OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:16962 semapv:UnspecifiedMatching -OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:CGREF1 semapv:UnspecifiedMatching -OMIM:606137 CGREF1 skos:exactMatch ncbigene:10669 semapv:UnspecifiedMatching -OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:15528 semapv:UnspecifiedMatching -OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:CGRRF1 semapv:UnspecifiedMatching -OMIM:606138 CGRRF1 skos:exactMatch ncbigene:10668 semapv:UnspecifiedMatching -OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:16857 semapv:UnspecifiedMatching -OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:KLF16 semapv:UnspecifiedMatching -OMIM:606139 KLF16 skos:exactMatch ncbigene:83855 semapv:UnspecifiedMatching -OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:14108 semapv:UnspecifiedMatching -OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:XPO7 semapv:UnspecifiedMatching -OMIM:606140 XPO7 skos:exactMatch ncbigene:23039 semapv:UnspecifiedMatching -OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:14428 semapv:UnspecifiedMatching -OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:RANBP17 semapv:UnspecifiedMatching -OMIM:606141 RANBP17 skos:exactMatch ncbigene:64901 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C1421998 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225531 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225532 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:13446 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:SLC2A9 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch ncbigene:56606 semapv:UnspecifiedMatching -OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:4041 semapv:UnspecifiedMatching -OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:FZD3 semapv:UnspecifiedMatching -OMIM:606143 FZD3 skos:exactMatch ncbigene:7976 semapv:UnspecifiedMatching -OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:14263 semapv:UnspecifiedMatching -OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:RAB23 semapv:UnspecifiedMatching -OMIM:606144 RAB23 skos:exactMatch ncbigene:51715 semapv:UnspecifiedMatching -OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:13444 semapv:UnspecifiedMatching -OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:SLC2A10 semapv:UnspecifiedMatching -OMIM:606145 SLC2A10 skos:exactMatch ncbigene:81031 semapv:UnspecifiedMatching -OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:4046 semapv:UnspecifiedMatching -OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:FZD8 semapv:UnspecifiedMatching -OMIM:606146 FZD8 skos:exactMatch ncbigene:8325 semapv:UnspecifiedMatching -OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:4039 semapv:UnspecifiedMatching -OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:FZD10 semapv:UnspecifiedMatching -OMIM:606147 FZD10 skos:exactMatch ncbigene:11211 semapv:UnspecifiedMatching -OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:3574 semapv:UnspecifiedMatching -OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:FADS1 semapv:UnspecifiedMatching -OMIM:606148 FADS1 skos:exactMatch ncbigene:3992 semapv:UnspecifiedMatching -OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:3575 semapv:UnspecifiedMatching -OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:FADS2 semapv:UnspecifiedMatching -OMIM:606149 FADS2 skos:exactMatch ncbigene:9415 semapv:UnspecifiedMatching -OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:3576 semapv:UnspecifiedMatching -OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:FADS3 semapv:UnspecifiedMatching -OMIM:606150 FADS3 skos:exactMatch ncbigene:3995 semapv:UnspecifiedMatching -OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:967 semapv:UnspecifiedMatching -OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:BBS2 semapv:UnspecifiedMatching -OMIM:606151 BBS2 skos:exactMatch ncbigene:583 semapv:UnspecifiedMatching -OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:16266 semapv:UnspecifiedMatching -OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:SLC19A3 semapv:UnspecifiedMatching -OMIM:606152 SLC19A3 skos:exactMatch ncbigene:80704 semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch UMLS:C1412659 semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:838 semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:ATP5F1E semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch ncbigene:514 semapv:UnspecifiedMatching -OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:15582 semapv:UnspecifiedMatching -OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:MUC16 semapv:UnspecifiedMatching -OMIM:606154 MUC16 skos:exactMatch ncbigene:94025 semapv:UnspecifiedMatching -OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:15894 semapv:UnspecifiedMatching -OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:PANK2 semapv:UnspecifiedMatching -OMIM:606157 PANK2 skos:exactMatch ncbigene:80025 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C1423761 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C1720863 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C4014700 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C4016959 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:15832 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:BSCL2 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch ncbigene:26580 semapv:UnspecifiedMatching -OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:8598 semapv:UnspecifiedMatching -OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:PANK1 semapv:UnspecifiedMatching -OMIM:606160 PANK1 skos:exactMatch ncbigene:53354 semapv:UnspecifiedMatching -OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:19365 semapv:UnspecifiedMatching -OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:PANK3 semapv:UnspecifiedMatching -OMIM:606161 PANK3 skos:exactMatch ncbigene:79646 semapv:UnspecifiedMatching -OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:19366 semapv:UnspecifiedMatching -OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:PANK4 semapv:UnspecifiedMatching -OMIM:606162 PANK4 skos:exactMatch ncbigene:55229 semapv:UnspecifiedMatching -OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching -OMIM:606165 BOLL skos:exactMatch hgnc.symbol:14273 semapv:UnspecifiedMatching -OMIM:606165 BOLL skos:exactMatch hgnc.symbol:BOLL semapv:UnspecifiedMatching -OMIM:606165 BOLL skos:exactMatch ncbigene:66037 semapv:UnspecifiedMatching -OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:17482 semapv:UnspecifiedMatching -OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:GPR132 semapv:UnspecifiedMatching -OMIM:606167 GPR132 skos:exactMatch ncbigene:29933 semapv:UnspecifiedMatching -OMIM:606168 DDX20 skos:exactMatch UMLS:C1413960 semapv:UnspecifiedMatching -OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:2743 semapv:UnspecifiedMatching -OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:DDX20 semapv:UnspecifiedMatching -OMIM:606168 DDX20 skos:exactMatch ncbigene:11218 semapv:UnspecifiedMatching -OMIM:606170 genitopatellar syndrome skos:exactMatch Orphanet:85201 semapv:UnspecifiedMatching -OMIM:606170 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching -OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:16292 semapv:UnspecifiedMatching -OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:TRS-TGA2-1 semapv:UnspecifiedMatching -OMIM:606171 TRS-TGA2-1 skos:exactMatch ncbigene:94017 semapv:UnspecifiedMatching -OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:16294 semapv:UnspecifiedMatching -OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:TRS-TGA4-1 semapv:UnspecifiedMatching -OMIM:606172 TRS-TGA4-1 skos:exactMatch ncbigene:23540 semapv:UnspecifiedMatching -OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:19696 semapv:UnspecifiedMatching -OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:GRPEL1 semapv:UnspecifiedMatching -OMIM:606173 GRPEL1 skos:exactMatch ncbigene:80273 semapv:UnspecifiedMatching -OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:79134 semapv:UnspecifiedMatching -OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching -OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching -OMIM:606178 HHIP skos:exactMatch hgnc.symbol:14866 semapv:UnspecifiedMatching -OMIM:606178 HHIP skos:exactMatch hgnc.symbol:HHIP semapv:UnspecifiedMatching -OMIM:606178 HHIP skos:exactMatch ncbigene:64399 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch UMLS:C1539371 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:9137 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:EXOSC9 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch ncbigene:5393 semapv:UnspecifiedMatching -OMIM:606181 DDX24 skos:exactMatch UMLS:C1421913 semapv:UnspecifiedMatching -OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:13266 semapv:UnspecifiedMatching -OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:DDX24 semapv:UnspecifiedMatching -OMIM:606181 DDX24 skos:exactMatch ncbigene:57062 semapv:UnspecifiedMatching -OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:11939 semapv:UnspecifiedMatching -OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:TNFSF9 semapv:UnspecifiedMatching -OMIM:606182 TNFSF9 skos:exactMatch ncbigene:8744 semapv:UnspecifiedMatching -OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:14605 semapv:UnspecifiedMatching -OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:ADAMTS12 semapv:UnspecifiedMatching -OMIM:606184 ADAMTS12 skos:exactMatch ncbigene:81792 semapv:UnspecifiedMatching -OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:18022 semapv:UnspecifiedMatching -OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:TP53INP1 semapv:UnspecifiedMatching -OMIM:606185 TP53INP1 skos:exactMatch ncbigene:94241 semapv:UnspecifiedMatching -OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:30423 semapv:UnspecifiedMatching -OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:CACYBP semapv:UnspecifiedMatching -OMIM:606186 CACYBP skos:exactMatch ncbigene:27101 semapv:UnspecifiedMatching -OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:206 semapv:UnspecifiedMatching -OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:ADAM28 semapv:UnspecifiedMatching -OMIM:606188 ADAM28 skos:exactMatch ncbigene:10863 semapv:UnspecifiedMatching -OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:2359 semapv:UnspecifiedMatching -OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:CRIM1 semapv:UnspecifiedMatching -OMIM:606189 CRIM1 skos:exactMatch ncbigene:51232 semapv:UnspecifiedMatching -OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:17069 semapv:UnspecifiedMatching -OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:FNBP1 semapv:UnspecifiedMatching -OMIM:606191 FNBP1 skos:exactMatch ncbigene:23048 semapv:UnspecifiedMatching -OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:1143 semapv:UnspecifiedMatching -OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:BTNL3 semapv:UnspecifiedMatching -OMIM:606192 BTNL3 skos:exactMatch ncbigene:10917 semapv:UnspecifiedMatching -OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:10916 semapv:UnspecifiedMatching -OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:SLC13A1 semapv:UnspecifiedMatching -OMIM:606193 SLC13A1 skos:exactMatch ncbigene:6561 semapv:UnspecifiedMatching -OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:6438 semapv:UnspecifiedMatching -OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:KRT23 semapv:UnspecifiedMatching -OMIM:606194 KRT23 skos:exactMatch ncbigene:25984 semapv:UnspecifiedMatching -OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:14361 semapv:UnspecifiedMatching -OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:IRX5 semapv:UnspecifiedMatching -OMIM:606195 IRX5 skos:exactMatch ncbigene:10265 semapv:UnspecifiedMatching -OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:14675 semapv:UnspecifiedMatching -OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:IRX6 semapv:UnspecifiedMatching -OMIM:606196 IRX6 skos:exactMatch ncbigene:79190 semapv:UnspecifiedMatching -OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:14358 semapv:UnspecifiedMatching -OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:IRX1 semapv:UnspecifiedMatching -OMIM:606197 IRX1 skos:exactMatch ncbigene:79192 semapv:UnspecifiedMatching -OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:14359 semapv:UnspecifiedMatching -OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:IRX2 semapv:UnspecifiedMatching -OMIM:606198 IRX2 skos:exactMatch ncbigene:153572 semapv:UnspecifiedMatching -OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:6129 semapv:UnspecifiedMatching -OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:IRX4 semapv:UnspecifiedMatching -OMIM:606199 IRX4 skos:exactMatch ncbigene:50805 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch UMLS:C1424440 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:16617 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:BHLHE41 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch ncbigene:79365 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C1421501 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C1833021 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C3280358 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C3805412 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C4016960 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch UMLS:C4551693 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:12762 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:WFS1 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch ncbigene:7466 semapv:UnspecifiedMatching -OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:16472 semapv:UnspecifiedMatching -OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:SLC45A2 semapv:UnspecifiedMatching -OMIM:606202 SLC45A2 skos:exactMatch ncbigene:51151 semapv:UnspecifiedMatching -OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:14458 semapv:UnspecifiedMatching -OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:GAB2 semapv:UnspecifiedMatching -OMIM:606203 GAB2 skos:exactMatch ncbigene:9846 semapv:UnspecifiedMatching -OMIM:606204 LY6D skos:exactMatch hgnc.symbol:13348 semapv:UnspecifiedMatching -OMIM:606204 LY6D skos:exactMatch hgnc.symbol:LY6D semapv:UnspecifiedMatching -OMIM:606204 LY6D skos:exactMatch ncbigene:8581 semapv:UnspecifiedMatching -OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:11054 semapv:UnspecifiedMatching -OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:SLC6A7 semapv:UnspecifiedMatching -OMIM:606205 SLC6A7 skos:exactMatch ncbigene:6534 semapv:UnspecifiedMatching -OMIM:606206 MT4 skos:exactMatch hgnc.symbol:18705 semapv:UnspecifiedMatching -OMIM:606206 MT4 skos:exactMatch hgnc.symbol:MT4 semapv:UnspecifiedMatching -OMIM:606206 MT4 skos:exactMatch ncbigene:84560 semapv:UnspecifiedMatching -OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:11001 semapv:UnspecifiedMatching -OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:SLC28A1 semapv:UnspecifiedMatching -OMIM:606207 SLC28A1 skos:exactMatch ncbigene:9154 semapv:UnspecifiedMatching -OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:11002 semapv:UnspecifiedMatching -OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:SLC28A2 semapv:UnspecifiedMatching -OMIM:606208 SLC28A2 skos:exactMatch ncbigene:9153 semapv:UnspecifiedMatching -OMIM:606209 YKT6 skos:exactMatch UMLS:C1823893 semapv:UnspecifiedMatching -OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:16959 semapv:UnspecifiedMatching -OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:YKT6 semapv:UnspecifiedMatching -OMIM:606209 YKT6 skos:exactMatch ncbigene:10652 semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch UMLS:C0546264 semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch UMLS:C1423899 semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch hgnc.symbol:15999 semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch hgnc.symbol:SELENON semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch ncbigene:57190 semapv:UnspecifiedMatching -OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:14934 semapv:UnspecifiedMatching -OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:SIRT6 semapv:UnspecifiedMatching -OMIM:606211 SIRT6 skos:exactMatch ncbigene:51548 semapv:UnspecifiedMatching -OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:14935 semapv:UnspecifiedMatching -OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:SIRT7 semapv:UnspecifiedMatching -OMIM:606212 SIRT7 skos:exactMatch ncbigene:51547 semapv:UnspecifiedMatching -OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:11325 semapv:UnspecifiedMatching -OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:SSR3 semapv:UnspecifiedMatching -OMIM:606213 SSR3 skos:exactMatch ncbigene:6747 semapv:UnspecifiedMatching -OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:14896 semapv:UnspecifiedMatching -OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:SPTBN4 semapv:UnspecifiedMatching -OMIM:606214 SPTBN4 skos:exactMatch ncbigene:57731 semapv:UnspecifiedMatching -OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:14133 semapv:UnspecifiedMatching -OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:MSRB1 semapv:UnspecifiedMatching -OMIM:606216 MSRB1 skos:exactMatch ncbigene:51734 semapv:UnspecifiedMatching -OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:19686 semapv:UnspecifiedMatching -OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:SEPHS2 semapv:UnspecifiedMatching -OMIM:606218 SEPHS2 skos:exactMatch ncbigene:22928 semapv:UnspecifiedMatching -OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:16264 semapv:UnspecifiedMatching -OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:TRAP1 semapv:UnspecifiedMatching -OMIM:606219 TRAP1 skos:exactMatch ncbigene:10131 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch UMLS:C1825590 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:13178 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:IKZF3 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch ncbigene:22806 semapv:UnspecifiedMatching -OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:5953 semapv:UnspecifiedMatching -OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:IGSF6 semapv:UnspecifiedMatching -OMIM:606222 IGSF6 skos:exactMatch ncbigene:10261 semapv:UnspecifiedMatching -OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:9559 semapv:UnspecifiedMatching -OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:PSMD2 semapv:UnspecifiedMatching -OMIM:606223 PSMD2 skos:exactMatch ncbigene:5708 semapv:UnspecifiedMatching -OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:17820 semapv:UnspecifiedMatching -OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:NT5C3A semapv:UnspecifiedMatching -OMIM:606224 NT5C3A skos:exactMatch ncbigene:51251 semapv:UnspecifiedMatching -OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:14448 semapv:UnspecifiedMatching -OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:TAS1R1 semapv:UnspecifiedMatching -OMIM:606225 TAS1R1 skos:exactMatch ncbigene:80835 semapv:UnspecifiedMatching -OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:14905 semapv:UnspecifiedMatching -OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:TAS1R2 semapv:UnspecifiedMatching -OMIM:606226 TAS1R2 skos:exactMatch ncbigene:80834 semapv:UnspecifiedMatching -OMIM:606227 MFRP skos:exactMatch hgnc.symbol:18121 semapv:UnspecifiedMatching -OMIM:606227 MFRP skos:exactMatch hgnc.symbol:MFRP semapv:UnspecifiedMatching -OMIM:606227 MFRP skos:exactMatch ncbigene:83552 semapv:UnspecifiedMatching -OMIM:606228 AGO1 skos:exactMatch UMLS:C1414332 semapv:UnspecifiedMatching -OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:3262 semapv:UnspecifiedMatching -OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:AGO1 semapv:UnspecifiedMatching -OMIM:606228 AGO1 skos:exactMatch ncbigene:26523 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch UMLS:C1414333 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch UMLS:C5436892 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:3263 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:AGO2 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch ncbigene:27161 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch UMLS:C1422550 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch UMLS:C3151380 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:14294 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:SHANK3 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch ncbigene:85358 semapv:UnspecifiedMatching -OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:18242 semapv:UnspecifiedMatching -OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:APPL2 semapv:UnspecifiedMatching -OMIM:606231 APPL2 skos:exactMatch ncbigene:55198 semapv:UnspecifiedMatching -OMIM:606232 phelan-mcdermid syndrome skos:exactMatch Orphanet:48652 semapv:UnspecifiedMatching -OMIM:606232 phelan-mcdermid syndrome skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching -OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:18454 semapv:UnspecifiedMatching -OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:PROK1 semapv:UnspecifiedMatching -OMIM:606233 PROK1 skos:exactMatch ncbigene:84432 semapv:UnspecifiedMatching -OMIM:606234 IKZF2 skos:exactMatch UMLS:C1825589 semapv:UnspecifiedMatching -OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:13177 semapv:UnspecifiedMatching -OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:IKZF2 semapv:UnspecifiedMatching -OMIM:606234 IKZF2 skos:exactMatch ncbigene:22807 semapv:UnspecifiedMatching -OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:20667 semapv:UnspecifiedMatching -OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:TXNRD3 semapv:UnspecifiedMatching -OMIM:606235 TXNRD3 skos:exactMatch ncbigene:114112 semapv:UnspecifiedMatching -OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:13825 semapv:UnspecifiedMatching -OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:ASPSCR1 semapv:UnspecifiedMatching -OMIM:606236 ASPSCR1 skos:exactMatch ncbigene:79058 semapv:UnspecifiedMatching -OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:16836 semapv:UnspecifiedMatching -OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:TGFBRAP1 semapv:UnspecifiedMatching -OMIM:606237 TGFBRAP1 skos:exactMatch ncbigene:9392 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch UMLS:C1825591 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:14283 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:IKZF5 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch ncbigene:64376 semapv:UnspecifiedMatching -OMIM:606239 IKZF4 skos:exactMatch UMLS:C1421861 semapv:UnspecifiedMatching -OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:13179 semapv:UnspecifiedMatching -OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:IKZF4 semapv:UnspecifiedMatching -OMIM:606239 IKZF4 skos:exactMatch ncbigene:64375 semapv:UnspecifiedMatching -OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:17098 semapv:UnspecifiedMatching -OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:DICER1 semapv:UnspecifiedMatching -OMIM:606241 DICER1 skos:exactMatch ncbigene:23405 semapv:UnspecifiedMatching -OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching -OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:11358 semapv:UnspecifiedMatching -OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:STAM2 semapv:UnspecifiedMatching -OMIM:606244 STAM2 skos:exactMatch ncbigene:10254 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch UMLS:C1539902 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:17101 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:SUZ12 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch ncbigene:23512 semapv:UnspecifiedMatching -OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:28917 semapv:UnspecifiedMatching -OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:JAZF1 semapv:UnspecifiedMatching -OMIM:606246 JAZF1 skos:exactMatch ncbigene:221895 semapv:UnspecifiedMatching -OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:16950 semapv:UnspecifiedMatching -OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:STAMBP semapv:UnspecifiedMatching -OMIM:606247 STAMBP skos:exactMatch ncbigene:10617 semapv:UnspecifiedMatching -OMIM:606248 QPRT skos:exactMatch hgnc.symbol:9755 semapv:UnspecifiedMatching -OMIM:606248 QPRT skos:exactMatch hgnc.symbol:QPRT semapv:UnspecifiedMatching -OMIM:606248 QPRT skos:exactMatch ncbigene:23475 semapv:UnspecifiedMatching -OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:14542 semapv:UnspecifiedMatching -OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:WNK2 semapv:UnspecifiedMatching -OMIM:606249 WNK2 skos:exactMatch ncbigene:65268 semapv:UnspecifiedMatching -OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:4130 semapv:UnspecifiedMatching -OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:GALNT8 semapv:UnspecifiedMatching -OMIM:606250 GALNT8 skos:exactMatch ncbigene:26290 semapv:UnspecifiedMatching -OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:4131 semapv:UnspecifiedMatching -OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:GALNT9 semapv:UnspecifiedMatching -OMIM:606251 GALNT9 skos:exactMatch ncbigene:50614 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C1424810 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C1970686 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:17192 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:TIRAP semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch ncbigene:114609 semapv:UnspecifiedMatching -OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:17705 semapv:UnspecifiedMatching -OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:SELENOF semapv:UnspecifiedMatching -OMIM:606254 SELENOF skos:exactMatch ncbigene:9403 semapv:UnspecifiedMatching -OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:17262 semapv:UnspecifiedMatching -OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:BRMS1 semapv:UnspecifiedMatching -OMIM:606259 BRMS1 skos:exactMatch ncbigene:25855 semapv:UnspecifiedMatching -OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:14596 semapv:UnspecifiedMatching -OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:MTMR9 semapv:UnspecifiedMatching -OMIM:606260 MTMR9 skos:exactMatch ncbigene:66036 semapv:UnspecifiedMatching -OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:8053 semapv:UnspecifiedMatching -OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:NUDT6 semapv:UnspecifiedMatching -OMIM:606261 NUDT6 skos:exactMatch ncbigene:11162 semapv:UnspecifiedMatching -OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:14558 semapv:UnspecifiedMatching -OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:CLEC7A semapv:UnspecifiedMatching -OMIM:606264 CLEC7A skos:exactMatch ncbigene:64581 semapv:UnspecifiedMatching -OMIM:606265 EP400 skos:exactMatch hgnc.symbol:11958 semapv:UnspecifiedMatching -OMIM:606265 EP400 skos:exactMatch hgnc.symbol:EP400 semapv:UnspecifiedMatching -OMIM:606265 EP400 skos:exactMatch ncbigene:57634 semapv:UnspecifiedMatching -OMIM:606266 BMF skos:exactMatch hgnc.symbol:24132 semapv:UnspecifiedMatching -OMIM:606266 BMF skos:exactMatch hgnc.symbol:BMF semapv:UnspecifiedMatching -OMIM:606266 BMF skos:exactMatch ncbigene:90427 semapv:UnspecifiedMatching -OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:16267 semapv:UnspecifiedMatching -OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:WNT16 semapv:UnspecifiedMatching -OMIM:606267 WNT16 skos:exactMatch ncbigene:51384 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch UMLS:C1422222 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch UMLS:C1835492 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:13829 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:WNT10A semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch ncbigene:80326 semapv:UnspecifiedMatching -OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:17755 semapv:UnspecifiedMatching -OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:TNFRSF13C semapv:UnspecifiedMatching -OMIM:606269 TNFRSF13C skos:exactMatch ncbigene:115650 semapv:UnspecifiedMatching -OMIM:606270 TLR10 skos:exactMatch UMLS:C1423634 semapv:UnspecifiedMatching -OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:15634 semapv:UnspecifiedMatching -OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:TLR10 semapv:UnspecifiedMatching -OMIM:606270 TLR10 skos:exactMatch ncbigene:81793 semapv:UnspecifiedMatching -OMIM:606271 DISC2 skos:exactMatch hgnc.symbol:2889 semapv:UnspecifiedMatching -OMIM:606271 DISC2 skos:exactMatch hgnc.symbol:DISC2 semapv:UnspecifiedMatching -OMIM:606271 DISC2 skos:exactMatch ncbigene:27184 semapv:UnspecifiedMatching -OMIM:606272 CTNS skos:exactMatch hgnc.symbol:2518 semapv:UnspecifiedMatching -OMIM:606272 CTNS skos:exactMatch hgnc.symbol:CTNS semapv:UnspecifiedMatching -OMIM:606272 CTNS skos:exactMatch ncbigene:1497 semapv:UnspecifiedMatching -OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:3259 semapv:UnspecifiedMatching -OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:EIF2B3 semapv:UnspecifiedMatching -OMIM:606273 EIF2B3 skos:exactMatch ncbigene:8891 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C1413757 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:2454 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:CSNK1G1 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch ncbigene:53944 semapv:UnspecifiedMatching -OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:14882 semapv:UnspecifiedMatching -OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:CRTAC1 semapv:UnspecifiedMatching -OMIM:606276 CRTAC1 skos:exactMatch ncbigene:55118 semapv:UnspecifiedMatching -OMIM:606277 TOLLIP skos:exactMatch hgnc.symbol:16476 semapv:UnspecifiedMatching -OMIM:606277 TOLLIP skos:exactMatch hgnc.symbol:TOLLIP semapv:UnspecifiedMatching -OMIM:606277 TOLLIP skos:exactMatch ncbigene:54472 semapv:UnspecifiedMatching -OMIM:606278 FBXW7 skos:exactMatch UMLS:C1333533 semapv:UnspecifiedMatching -OMIM:606278 FBXW7 skos:exactMatch hgnc.symbol:16712 semapv:UnspecifiedMatching -OMIM:606278 FBXW7 skos:exactMatch hgnc.symbol:FBXW7 semapv:UnspecifiedMatching -OMIM:606278 FBXW7 skos:exactMatch ncbigene:55294 semapv:UnspecifiedMatching -OMIM:606279 ABI3BP skos:exactMatch hgnc.symbol:17265 semapv:UnspecifiedMatching -OMIM:606279 ABI3BP skos:exactMatch hgnc.symbol:ABI3BP semapv:UnspecifiedMatching -OMIM:606279 ABI3BP skos:exactMatch ncbigene:25890 semapv:UnspecifiedMatching -OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:24304 semapv:UnspecifiedMatching -OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:NCAPG semapv:UnspecifiedMatching -OMIM:606280 NCAPG skos:exactMatch ncbigene:64151 semapv:UnspecifiedMatching -OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:9776 semapv:UnspecifiedMatching -OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:RAB38 semapv:UnspecifiedMatching -OMIM:606281 RAB38 skos:exactMatch ncbigene:23682 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch UMLS:C1539803 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:16697 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:SORCS1 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch ncbigene:114815 semapv:UnspecifiedMatching -OMIM:606284 SORCS2 skos:exactMatch UMLS:C1539804 semapv:UnspecifiedMatching -OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:16698 semapv:UnspecifiedMatching -OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:SORCS2 semapv:UnspecifiedMatching -OMIM:606284 SORCS2 skos:exactMatch ncbigene:57537 semapv:UnspecifiedMatching -OMIM:606285 SORCS3 skos:exactMatch UMLS:C1539805 semapv:UnspecifiedMatching -OMIM:606285 SORCS3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:16699 semapv:UnspecifiedMatching -OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:SORCS3 semapv:UnspecifiedMatching -OMIM:606285 SORCS3 skos:exactMatch ncbigene:22986 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch UMLS:C1425700 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:18677 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:DDX43 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch ncbigene:55510 semapv:UnspecifiedMatching -OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:8696 semapv:UnspecifiedMatching -OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:PCDHGA1 semapv:UnspecifiedMatching -OMIM:606288 PCDHGA1 skos:exactMatch ncbigene:56114 semapv:UnspecifiedMatching -OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:8700 semapv:UnspecifiedMatching -OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:PCDHGA2 semapv:UnspecifiedMatching -OMIM:606289 PCDHGA2 skos:exactMatch ncbigene:56113 semapv:UnspecifiedMatching -OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:8701 semapv:UnspecifiedMatching -OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:PCDHGA3 semapv:UnspecifiedMatching -OMIM:606290 PCDHGA3 skos:exactMatch ncbigene:56112 semapv:UnspecifiedMatching -OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:8702 semapv:UnspecifiedMatching -OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:PCDHGA4 semapv:UnspecifiedMatching -OMIM:606291 PCDHGA4 skos:exactMatch ncbigene:56111 semapv:UnspecifiedMatching -OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:8703 semapv:UnspecifiedMatching -OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:PCDHGA5 semapv:UnspecifiedMatching -OMIM:606292 PCDHGA5 skos:exactMatch ncbigene:56110 semapv:UnspecifiedMatching -OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:8704 semapv:UnspecifiedMatching -OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:PCDHGA6 semapv:UnspecifiedMatching -OMIM:606293 PCDHGA6 skos:exactMatch ncbigene:56109 semapv:UnspecifiedMatching -OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:8705 semapv:UnspecifiedMatching -OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:PCDHGA7 semapv:UnspecifiedMatching -OMIM:606294 PCDHGA7 skos:exactMatch ncbigene:56108 semapv:UnspecifiedMatching -OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:8706 semapv:UnspecifiedMatching -OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:PCDHGA8 semapv:UnspecifiedMatching -OMIM:606295 PCDHGA8 skos:exactMatch ncbigene:9708 semapv:UnspecifiedMatching -OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:8707 semapv:UnspecifiedMatching -OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:PCDHGA9 semapv:UnspecifiedMatching -OMIM:606296 PCDHGA9 skos:exactMatch ncbigene:56107 semapv:UnspecifiedMatching -OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:8697 semapv:UnspecifiedMatching -OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:PCDHGA10 semapv:UnspecifiedMatching -OMIM:606297 PCDHGA10 skos:exactMatch ncbigene:56106 semapv:UnspecifiedMatching -OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:8698 semapv:UnspecifiedMatching -OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:PCDHGA11 semapv:UnspecifiedMatching -OMIM:606298 PCDHGA11 skos:exactMatch ncbigene:56105 semapv:UnspecifiedMatching -OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:8708 semapv:UnspecifiedMatching -OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:PCDHGB1 semapv:UnspecifiedMatching -OMIM:606299 PCDHGB1 skos:exactMatch ncbigene:56104 semapv:UnspecifiedMatching -OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:8709 semapv:UnspecifiedMatching -OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:PCDHGB2 semapv:UnspecifiedMatching -OMIM:606300 PCDHGB2 skos:exactMatch ncbigene:56103 semapv:UnspecifiedMatching -OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:8710 semapv:UnspecifiedMatching -OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:PCDHGB3 semapv:UnspecifiedMatching -OMIM:606301 PCDHGB3 skos:exactMatch ncbigene:56102 semapv:UnspecifiedMatching -OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:8712 semapv:UnspecifiedMatching -OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:PCDHGB5 semapv:UnspecifiedMatching -OMIM:606302 PCDHGB5 skos:exactMatch ncbigene:56101 semapv:UnspecifiedMatching -OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:8713 semapv:UnspecifiedMatching -OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:PCDHGB6 semapv:UnspecifiedMatching -OMIM:606303 PCDHGB6 skos:exactMatch ncbigene:56100 semapv:UnspecifiedMatching -OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:8714 semapv:UnspecifiedMatching -OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:PCDHGB7 semapv:UnspecifiedMatching -OMIM:606304 PCDHGB7 skos:exactMatch ncbigene:56099 semapv:UnspecifiedMatching -OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:8717 semapv:UnspecifiedMatching -OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:PCDHGC4 semapv:UnspecifiedMatching -OMIM:606305 PCDHGC4 skos:exactMatch ncbigene:56098 semapv:UnspecifiedMatching -OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:8718 semapv:UnspecifiedMatching -OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:PCDHGC5 semapv:UnspecifiedMatching -OMIM:606306 PCDHGC5 skos:exactMatch ncbigene:56097 semapv:UnspecifiedMatching -OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:8663 semapv:UnspecifiedMatching -OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:PCDHA1 semapv:UnspecifiedMatching -OMIM:606307 PCDHA1 skos:exactMatch ncbigene:56147 semapv:UnspecifiedMatching -OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:8668 semapv:UnspecifiedMatching -OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:PCDHA2 semapv:UnspecifiedMatching -OMIM:606308 PCDHA2 skos:exactMatch ncbigene:56146 semapv:UnspecifiedMatching -OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:8669 semapv:UnspecifiedMatching -OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:PCDHA3 semapv:UnspecifiedMatching -OMIM:606309 PCDHA3 skos:exactMatch ncbigene:56145 semapv:UnspecifiedMatching -OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:8670 semapv:UnspecifiedMatching -OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:PCDHA4 semapv:UnspecifiedMatching -OMIM:606310 PCDHA4 skos:exactMatch ncbigene:56144 semapv:UnspecifiedMatching -OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:8671 semapv:UnspecifiedMatching -OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:PCDHA5 semapv:UnspecifiedMatching -OMIM:606311 PCDHA5 skos:exactMatch ncbigene:56143 semapv:UnspecifiedMatching -OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:8672 semapv:UnspecifiedMatching -OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:PCDHA6 semapv:UnspecifiedMatching -OMIM:606312 PCDHA6 skos:exactMatch ncbigene:56142 semapv:UnspecifiedMatching -OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:8673 semapv:UnspecifiedMatching -OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:PCDHA7 semapv:UnspecifiedMatching -OMIM:606313 PCDHA7 skos:exactMatch ncbigene:56141 semapv:UnspecifiedMatching -OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:8674 semapv:UnspecifiedMatching -OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:PCDHA8 semapv:UnspecifiedMatching -OMIM:606314 PCDHA8 skos:exactMatch ncbigene:56140 semapv:UnspecifiedMatching -OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:8675 semapv:UnspecifiedMatching -OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:PCDHA9 semapv:UnspecifiedMatching -OMIM:606315 PCDHA9 skos:exactMatch ncbigene:9752 semapv:UnspecifiedMatching -OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:8664 semapv:UnspecifiedMatching -OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:PCDHA10 semapv:UnspecifiedMatching -OMIM:606316 PCDHA10 skos:exactMatch ncbigene:56139 semapv:UnspecifiedMatching -OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:8665 semapv:UnspecifiedMatching -OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:PCDHA11 semapv:UnspecifiedMatching -OMIM:606317 PCDHA11 skos:exactMatch ncbigene:56138 semapv:UnspecifiedMatching -OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:8666 semapv:UnspecifiedMatching -OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:PCDHA12 semapv:UnspecifiedMatching -OMIM:606318 PCDHA12 skos:exactMatch ncbigene:56137 semapv:UnspecifiedMatching -OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:8667 semapv:UnspecifiedMatching -OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:PCDHA13 semapv:UnspecifiedMatching -OMIM:606319 PCDHA13 skos:exactMatch ncbigene:56136 semapv:UnspecifiedMatching -OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:8676 semapv:UnspecifiedMatching -OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:PCDHAC1 semapv:UnspecifiedMatching -OMIM:606320 PCDHAC1 skos:exactMatch ncbigene:56135 semapv:UnspecifiedMatching -OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:8677 semapv:UnspecifiedMatching -OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:PCDHAC2 semapv:UnspecifiedMatching -OMIM:606321 PCDHAC2 skos:exactMatch ncbigene:56134 semapv:UnspecifiedMatching -OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:13759 semapv:UnspecifiedMatching -OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:CYFIP1 semapv:UnspecifiedMatching -OMIM:606322 CYFIP1 skos:exactMatch ncbigene:23191 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch UMLS:C1422187 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:13760 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:CYFIP2 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch ncbigene:26999 semapv:UnspecifiedMatching -OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:10892 semapv:UnspecifiedMatching -OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:SIX6 semapv:UnspecifiedMatching -OMIM:606326 SIX6 skos:exactMatch ncbigene:4990 semapv:UnspecifiedMatching -OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:8680 semapv:UnspecifiedMatching -OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:PCDHB1 semapv:UnspecifiedMatching -OMIM:606327 PCDHB1 skos:exactMatch ncbigene:29930 semapv:UnspecifiedMatching -OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:8687 semapv:UnspecifiedMatching -OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:PCDHB2 semapv:UnspecifiedMatching -OMIM:606328 PCDHB2 skos:exactMatch ncbigene:56133 semapv:UnspecifiedMatching -OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:8688 semapv:UnspecifiedMatching -OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:PCDHB3 semapv:UnspecifiedMatching -OMIM:606329 PCDHB3 skos:exactMatch ncbigene:56132 semapv:UnspecifiedMatching -OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:8689 semapv:UnspecifiedMatching -OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:PCDHB4 semapv:UnspecifiedMatching -OMIM:606330 PCDHB4 skos:exactMatch ncbigene:56131 semapv:UnspecifiedMatching -OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:8690 semapv:UnspecifiedMatching -OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:PCDHB5 semapv:UnspecifiedMatching -OMIM:606331 PCDHB5 skos:exactMatch ncbigene:26167 semapv:UnspecifiedMatching -OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:8691 semapv:UnspecifiedMatching -OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:PCDHB6 semapv:UnspecifiedMatching -OMIM:606332 PCDHB6 skos:exactMatch ncbigene:56130 semapv:UnspecifiedMatching -OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:8692 semapv:UnspecifiedMatching -OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:PCDHB7 semapv:UnspecifiedMatching -OMIM:606333 PCDHB7 skos:exactMatch ncbigene:56129 semapv:UnspecifiedMatching -OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:8693 semapv:UnspecifiedMatching -OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:PCDHB8 semapv:UnspecifiedMatching -OMIM:606334 PCDHB8 skos:exactMatch ncbigene:56128 semapv:UnspecifiedMatching -OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:8694 semapv:UnspecifiedMatching -OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:PCDHB9 semapv:UnspecifiedMatching -OMIM:606335 PCDHB9 skos:exactMatch ncbigene:56127 semapv:UnspecifiedMatching -OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:8681 semapv:UnspecifiedMatching -OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:PCDHB10 semapv:UnspecifiedMatching -OMIM:606336 PCDHB10 skos:exactMatch ncbigene:56126 semapv:UnspecifiedMatching -OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:8682 semapv:UnspecifiedMatching -OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:PCDHB11 semapv:UnspecifiedMatching -OMIM:606337 PCDHB11 skos:exactMatch ncbigene:56125 semapv:UnspecifiedMatching -OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:8683 semapv:UnspecifiedMatching -OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:PCDHB12 semapv:UnspecifiedMatching -OMIM:606338 PCDHB12 skos:exactMatch ncbigene:56124 semapv:UnspecifiedMatching -OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:8684 semapv:UnspecifiedMatching -OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:PCDHB13 semapv:UnspecifiedMatching -OMIM:606339 PCDHB13 skos:exactMatch ncbigene:56123 semapv:UnspecifiedMatching -OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:8685 semapv:UnspecifiedMatching -OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:PCDHB14 semapv:UnspecifiedMatching -OMIM:606340 PCDHB14 skos:exactMatch ncbigene:56122 semapv:UnspecifiedMatching -OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:8686 semapv:UnspecifiedMatching -OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:PCDHB15 semapv:UnspecifiedMatching -OMIM:606341 PCDHB15 skos:exactMatch ncbigene:56121 semapv:UnspecifiedMatching -OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:10890 semapv:UnspecifiedMatching -OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:SIX4 semapv:UnspecifiedMatching -OMIM:606342 SIX4 skos:exactMatch ncbigene:51804 semapv:UnspecifiedMatching -OMIM:606343 POLL skos:exactMatch hgnc.symbol:9184 semapv:UnspecifiedMatching -OMIM:606343 POLL skos:exactMatch hgnc.symbol:POLL semapv:UnspecifiedMatching -OMIM:606343 POLL skos:exactMatch ncbigene:27343 semapv:UnspecifiedMatching -OMIM:606344 POLM skos:exactMatch hgnc.symbol:9185 semapv:UnspecifiedMatching -OMIM:606344 POLM skos:exactMatch hgnc.symbol:POLM semapv:UnspecifiedMatching -OMIM:606344 POLM skos:exactMatch ncbigene:27434 semapv:UnspecifiedMatching -OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:14546 semapv:UnspecifiedMatching -OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:PCDHB16 semapv:UnspecifiedMatching -OMIM:606345 PCDHB16 skos:exactMatch ncbigene:57717 semapv:UnspecifiedMatching -OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:9580 semapv:UnspecifiedMatching -OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:PSTPIP1 semapv:UnspecifiedMatching -OMIM:606347 PSTPIP1 skos:exactMatch ncbigene:9051 semapv:UnspecifiedMatching -OMIM:606349 gambling, pathologic skos:exactMatch UMLS:C0030662 semapv:UnspecifiedMatching -OMIM:606350 APTX skos:exactMatch hgnc.symbol:15984 semapv:UnspecifiedMatching -OMIM:606350 APTX skos:exactMatch hgnc.symbol:APTX semapv:UnspecifiedMatching -OMIM:606350 APTX skos:exactMatch ncbigene:54840 semapv:UnspecifiedMatching -OMIM:606351 ESPN skos:exactMatch hgnc.symbol:13281 semapv:UnspecifiedMatching -OMIM:606351 ESPN skos:exactMatch hgnc.symbol:ESPN semapv:UnspecifiedMatching -OMIM:606351 ESPN skos:exactMatch ncbigene:83715 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch UMLS:C1412367 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:443 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:ALS2 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch ncbigene:57679 semapv:UnspecifiedMatching -OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch Orphanet:247604 semapv:UnspecifiedMatching -OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching -OMIM:606355 DDX18 skos:exactMatch UMLS:C1413958 semapv:UnspecifiedMatching -OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:2741 semapv:UnspecifiedMatching -OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:DDX18 semapv:UnspecifiedMatching -OMIM:606355 DDX18 skos:exactMatch ncbigene:8886 semapv:UnspecifiedMatching -OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:30138 semapv:UnspecifiedMatching -OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:TMEM123 semapv:UnspecifiedMatching -OMIM:606356 TMEM123 skos:exactMatch ncbigene:114908 semapv:UnspecifiedMatching -OMIM:606357 DDX21 skos:exactMatch UMLS:C1413961 semapv:UnspecifiedMatching -OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:2744 semapv:UnspecifiedMatching -OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:DDX21 semapv:UnspecifiedMatching -OMIM:606357 DDX21 skos:exactMatch ncbigene:9188 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch UMLS:C1332034 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:328 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:AGR2 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch ncbigene:10551 semapv:UnspecifiedMatching -OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:15983 semapv:UnspecifiedMatching -OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:WNT3A semapv:UnspecifiedMatching -OMIM:606359 WNT3A skos:exactMatch ncbigene:89780 semapv:UnspecifiedMatching -OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:12788 semapv:UnspecifiedMatching -OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:WNT8A semapv:UnspecifiedMatching -OMIM:606360 WNT8A skos:exactMatch ncbigene:7478 semapv:UnspecifiedMatching -OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:16265 semapv:UnspecifiedMatching -OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:WNT5B semapv:UnspecifiedMatching -OMIM:606361 WNT5B skos:exactMatch ncbigene:81029 semapv:UnspecifiedMatching -OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:14376 semapv:UnspecifiedMatching -OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:ACP4 semapv:UnspecifiedMatching -OMIM:606362 ACP4 skos:exactMatch ncbigene:93650 semapv:UnspecifiedMatching -OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:29859 semapv:UnspecifiedMatching -OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:ABI3 semapv:UnspecifiedMatching -OMIM:606363 ABI3 skos:exactMatch ncbigene:51225 semapv:UnspecifiedMatching -OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:29570 semapv:UnspecifiedMatching -OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:GLS2 semapv:UnspecifiedMatching -OMIM:606365 GLS2 skos:exactMatch ncbigene:27165 semapv:UnspecifiedMatching -OMIM:606366 RHOU skos:exactMatch hgnc.symbol:17794 semapv:UnspecifiedMatching -OMIM:606366 RHOU skos:exactMatch hgnc.symbol:RHOU semapv:UnspecifiedMatching -OMIM:606366 RHOU skos:exactMatch ncbigene:58480 semapv:UnspecifiedMatching -OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:17288 semapv:UnspecifiedMatching -OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:APOA5 semapv:UnspecifiedMatching -OMIM:606368 APOA5 skos:exactMatch ncbigene:116519 semapv:UnspecifiedMatching -OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:17358 semapv:UnspecifiedMatching -OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:TPK1 semapv:UnspecifiedMatching -OMIM:606370 TPK1 skos:exactMatch ncbigene:27010 semapv:UnspecifiedMatching -OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:792 semapv:UnspecifiedMatching -OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:ATF7 semapv:UnspecifiedMatching -OMIM:606371 ATF7 skos:exactMatch ncbigene:11016 semapv:UnspecifiedMatching -OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:13800 semapv:UnspecifiedMatching -OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:CHRNA10 semapv:UnspecifiedMatching -OMIM:606372 CHRNA10 skos:exactMatch ncbigene:57053 semapv:UnspecifiedMatching -OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:14074 semapv:UnspecifiedMatching -OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:FMN2 semapv:UnspecifiedMatching -OMIM:606373 FMN2 skos:exactMatch ncbigene:56776 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch UMLS:C1412718 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch UMLS:C4310897 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:923 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:B3GAT3 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch ncbigene:26229 semapv:UnspecifiedMatching -OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:19650 semapv:UnspecifiedMatching -OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:CHST10 semapv:UnspecifiedMatching -OMIM:606376 CHST10 skos:exactMatch ncbigene:9486 semapv:UnspecifiedMatching -OMIM:606377 DHDH skos:exactMatch hgnc.symbol:17887 semapv:UnspecifiedMatching -OMIM:606377 DHDH skos:exactMatch hgnc.symbol:DHDH semapv:UnspecifiedMatching -OMIM:606377 DHDH skos:exactMatch ncbigene:27294 semapv:UnspecifiedMatching -OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:17846 semapv:UnspecifiedMatching -OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:ST6GALNAC4 semapv:UnspecifiedMatching -OMIM:606378 ST6GALNAC4 skos:exactMatch ncbigene:27090 semapv:UnspecifiedMatching -OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:4538 semapv:UnspecifiedMatching -OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:GPR87 semapv:UnspecifiedMatching -OMIM:606379 GPR87 skos:exactMatch ncbigene:53836 semapv:UnspecifiedMatching -OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:4537 semapv:UnspecifiedMatching -OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:P2RY13 semapv:UnspecifiedMatching -OMIM:606380 P2RY13 skos:exactMatch ncbigene:53829 semapv:UnspecifiedMatching -OMIM:606381 SUCNR1 skos:exactMatch UMLS:C1539890 semapv:UnspecifiedMatching -OMIM:606381 SUCNR1 skos:exactMatch hgnc.symbol:4542 semapv:UnspecifiedMatching -OMIM:606381 SUCNR1 skos:exactMatch hgnc.symbol:SUCNR1 semapv:UnspecifiedMatching -OMIM:606381 SUCNR1 skos:exactMatch ncbigene:56670 semapv:UnspecifiedMatching -OMIM:606382 MAGI2 skos:exactMatch hgnc.symbol:18957 semapv:UnspecifiedMatching -OMIM:606382 MAGI2 skos:exactMatch hgnc.symbol:MAGI2 semapv:UnspecifiedMatching -OMIM:606382 MAGI2 skos:exactMatch ncbigene:9863 semapv:UnspecifiedMatching -OMIM:606383 GPR84 skos:exactMatch hgnc.symbol:4535 semapv:UnspecifiedMatching -OMIM:606383 GPR84 skos:exactMatch hgnc.symbol:GPR84 semapv:UnspecifiedMatching -OMIM:606383 GPR84 skos:exactMatch ncbigene:53831 semapv:UnspecifiedMatching -OMIM:606384 NEDD4L skos:exactMatch hgnc.symbol:7728 semapv:UnspecifiedMatching -OMIM:606384 NEDD4L skos:exactMatch hgnc.symbol:NEDD4L semapv:UnspecifiedMatching -OMIM:606384 NEDD4L skos:exactMatch ncbigene:23327 semapv:UnspecifiedMatching -OMIM:606385 OLIG1 skos:exactMatch hgnc.symbol:16983 semapv:UnspecifiedMatching -OMIM:606385 OLIG1 skos:exactMatch hgnc.symbol:OLIG1 semapv:UnspecifiedMatching -OMIM:606385 OLIG1 skos:exactMatch ncbigene:116448 semapv:UnspecifiedMatching -OMIM:606386 OLIG2 skos:exactMatch UMLS:C1418915 semapv:UnspecifiedMatching -OMIM:606386 OLIG2 skos:exactMatch hgnc.symbol:9398 semapv:UnspecifiedMatching -OMIM:606386 OLIG2 skos:exactMatch hgnc.symbol:OLIG2 semapv:UnspecifiedMatching -OMIM:606386 OLIG2 skos:exactMatch ncbigene:10215 semapv:UnspecifiedMatching -OMIM:606387 TOP1MT skos:exactMatch hgnc.symbol:29787 semapv:UnspecifiedMatching -OMIM:606387 TOP1MT skos:exactMatch hgnc.symbol:TOP1MT semapv:UnspecifiedMatching -OMIM:606387 TOP1MT skos:exactMatch ncbigene:116447 semapv:UnspecifiedMatching -OMIM:606388 THEM4 skos:exactMatch hgnc.symbol:17947 semapv:UnspecifiedMatching -OMIM:606388 THEM4 skos:exactMatch hgnc.symbol:THEM4 semapv:UnspecifiedMatching -OMIM:606388 THEM4 skos:exactMatch ncbigene:117145 semapv:UnspecifiedMatching -OMIM:606389 CATSPER1 skos:exactMatch hgnc.symbol:17116 semapv:UnspecifiedMatching -OMIM:606389 CATSPER1 skos:exactMatch hgnc.symbol:CATSPER1 semapv:UnspecifiedMatching -OMIM:606389 CATSPER1 skos:exactMatch ncbigene:117144 semapv:UnspecifiedMatching -OMIM:606393 ADAMDEC1 skos:exactMatch hgnc.symbol:16299 semapv:UnspecifiedMatching -OMIM:606393 ADAMDEC1 skos:exactMatch hgnc.symbol:ADAMDEC1 semapv:UnspecifiedMatching -OMIM:606393 ADAMDEC1 skos:exactMatch ncbigene:27299 semapv:UnspecifiedMatching -OMIM:606395 PREB skos:exactMatch hgnc.symbol:9356 semapv:UnspecifiedMatching -OMIM:606395 PREB skos:exactMatch hgnc.symbol:PREB semapv:UnspecifiedMatching -OMIM:606395 PREB skos:exactMatch ncbigene:10113 semapv:UnspecifiedMatching -OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:1054 semapv:UnspecifiedMatching -OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:BIN3 semapv:UnspecifiedMatching -OMIM:606396 BIN3 skos:exactMatch ncbigene:55909 semapv:UnspecifiedMatching -OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:12605 semapv:UnspecifiedMatching -OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:CLRN1 semapv:UnspecifiedMatching -OMIM:606397 CLRN1 skos:exactMatch ncbigene:7401 semapv:UnspecifiedMatching -OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:790 semapv:UnspecifiedMatching -OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:ATF5 semapv:UnspecifiedMatching -OMIM:606398 ATF5 skos:exactMatch ncbigene:22809 semapv:UnspecifiedMatching -OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:15460 semapv:UnspecifiedMatching -OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:CACNA2D3 semapv:UnspecifiedMatching -OMIM:606399 CACNA2D3 skos:exactMatch ncbigene:55799 semapv:UnspecifiedMatching -OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:1484 semapv:UnspecifiedMatching -OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:CAPN7 semapv:UnspecifiedMatching -OMIM:606400 CAPN7 skos:exactMatch ncbigene:23473 semapv:UnspecifiedMatching -OMIM:606401 CAPN9 skos:exactMatch UMLS:C1413119 semapv:UnspecifiedMatching -OMIM:606401 CAPN9 skos:exactMatch hgnc.symbol:1486 semapv:UnspecifiedMatching -OMIM:606401 CAPN9 skos:exactMatch hgnc.symbol:CAPN9 semapv:UnspecifiedMatching -OMIM:606401 CAPN9 skos:exactMatch ncbigene:10753 semapv:UnspecifiedMatching -OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:23217 semapv:UnspecifiedMatching -OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:GKN1 semapv:UnspecifiedMatching -OMIM:606402 GKN1 skos:exactMatch ncbigene:56287 semapv:UnspecifiedMatching -OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:1407 semapv:UnspecifiedMatching -OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:CACNG3 semapv:UnspecifiedMatching -OMIM:606403 CACNG3 skos:exactMatch ncbigene:10368 semapv:UnspecifiedMatching -OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:1408 semapv:UnspecifiedMatching -OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:CACNG4 semapv:UnspecifiedMatching -OMIM:606404 CACNG4 skos:exactMatch ncbigene:27092 semapv:UnspecifiedMatching -OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:1409 semapv:UnspecifiedMatching -OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:CACNG5 semapv:UnspecifiedMatching -OMIM:606405 CACNG5 skos:exactMatch ncbigene:27091 semapv:UnspecifiedMatching -OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:7909 semapv:UnspecifiedMatching -OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:NPIPA1 semapv:UnspecifiedMatching -OMIM:606406 NPIPA1 skos:exactMatch ncbigene:9284 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch UMLS:C1422257 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch hgnc.symbol:13890 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch hgnc.symbol:ITCH semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch ncbigene:83737 semapv:UnspecifiedMatching -OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:21014 semapv:UnspecifiedMatching -OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:ANTXR1 semapv:UnspecifiedMatching -OMIM:606410 ANTXR1 skos:exactMatch ncbigene:84168 semapv:UnspecifiedMatching -OMIM:606411 SLC13A3 skos:exactMatch UMLS:C1422640 semapv:UnspecifiedMatching -OMIM:606411 SLC13A3 skos:exactMatch UMLS:C5193068 semapv:UnspecifiedMatching -OMIM:606411 SLC13A3 skos:exactMatch hgnc.symbol:14430 semapv:UnspecifiedMatching -OMIM:606411 SLC13A3 skos:exactMatch hgnc.symbol:SLC13A3 semapv:UnspecifiedMatching -OMIM:606411 SLC13A3 skos:exactMatch ncbigene:64849 semapv:UnspecifiedMatching -OMIM:606412 BSND skos:exactMatch hgnc.symbol:16512 semapv:UnspecifiedMatching -OMIM:606412 BSND skos:exactMatch hgnc.symbol:BSND semapv:UnspecifiedMatching -OMIM:606412 BSND skos:exactMatch ncbigene:7809 semapv:UnspecifiedMatching -OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:6088 semapv:UnspecifiedMatching -OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:INSL5 semapv:UnspecifiedMatching -OMIM:606413 INSL5 skos:exactMatch ncbigene:10022 semapv:UnspecifiedMatching -OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:6089 semapv:UnspecifiedMatching -OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:INSL6 semapv:UnspecifiedMatching -OMIM:606414 INSL6 skos:exactMatch ncbigene:11172 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C0268390 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C0409818 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C1424250 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch UMLS:C4551895 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:16400 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:NLRP3 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch ncbigene:114548 semapv:UnspecifiedMatching -OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:13831 semapv:UnspecifiedMatching -OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:WDR11 semapv:UnspecifiedMatching -OMIM:606417 WDR11 skos:exactMatch ncbigene:55717 semapv:UnspecifiedMatching -OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:2859 semapv:UnspecifiedMatching -OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:DHCR24 semapv:UnspecifiedMatching -OMIM:606418 DHCR24 skos:exactMatch ncbigene:1718 semapv:UnspecifiedMatching -OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:15446 semapv:UnspecifiedMatching -OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:PRPF31 semapv:UnspecifiedMatching -OMIM:606419 PRPF31 skos:exactMatch ncbigene:26121 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch UMLS:C1424154 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:16286 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:ELMO1 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch ncbigene:9844 semapv:UnspecifiedMatching -OMIM:606421 ELMO2 skos:exactMatch UMLS:C1424843 semapv:UnspecifiedMatching -OMIM:606421 ELMO2 skos:exactMatch UMLS:C1847197 semapv:UnspecifiedMatching -OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:17233 semapv:UnspecifiedMatching -OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:ELMO2 semapv:UnspecifiedMatching -OMIM:606421 ELMO2 skos:exactMatch ncbigene:63916 semapv:UnspecifiedMatching -OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:17289 semapv:UnspecifiedMatching -OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:ELMO3 semapv:UnspecifiedMatching -OMIM:606422 ELMO3 skos:exactMatch ncbigene:79767 semapv:UnspecifiedMatching -OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:15760 semapv:UnspecifiedMatching -OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:DIRC1 semapv:UnspecifiedMatching -OMIM:606423 DIRC1 skos:exactMatch ncbigene:116093 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch UMLS:C1422819 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:14660 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:EGLN2 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch ncbigene:112398 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch UMLS:C1412925 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch UMLS:C1836778 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch UMLS:C1853286 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:1232 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:EGLN1 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch ncbigene:54583 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch UMLS:C1422820 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:14661 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:EGLN3 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch ncbigene:112399 semapv:UnspecifiedMatching -OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:13842 semapv:UnspecifiedMatching -OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:ZNF320 semapv:UnspecifiedMatching -OMIM:606427 ZNF320 skos:exactMatch ncbigene:162967 semapv:UnspecifiedMatching -OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:12535 semapv:UnspecifiedMatching -OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:UGT1A3 semapv:UnspecifiedMatching -OMIM:606428 UGT1A3 skos:exactMatch ncbigene:54659 semapv:UnspecifiedMatching -OMIM:606429 UGT1A4 skos:exactMatch hgnc.symbol:12536 semapv:UnspecifiedMatching -OMIM:606429 UGT1A4 skos:exactMatch hgnc.symbol:UGT1A4 semapv:UnspecifiedMatching -OMIM:606429 UGT1A4 skos:exactMatch ncbigene:54657 semapv:UnspecifiedMatching -OMIM:606430 UGT1A5 skos:exactMatch hgnc.symbol:12537 semapv:UnspecifiedMatching -OMIM:606430 UGT1A5 skos:exactMatch hgnc.symbol:UGT1A5 semapv:UnspecifiedMatching -OMIM:606430 UGT1A5 skos:exactMatch ncbigene:54579 semapv:UnspecifiedMatching -OMIM:606431 UGT1A6 skos:exactMatch hgnc.symbol:12538 semapv:UnspecifiedMatching -OMIM:606431 UGT1A6 skos:exactMatch hgnc.symbol:UGT1A6 semapv:UnspecifiedMatching -OMIM:606431 UGT1A6 skos:exactMatch ncbigene:54578 semapv:UnspecifiedMatching -OMIM:606432 UGT1A7 skos:exactMatch hgnc.symbol:12539 semapv:UnspecifiedMatching -OMIM:606432 UGT1A7 skos:exactMatch hgnc.symbol:UGT1A7 semapv:UnspecifiedMatching -OMIM:606432 UGT1A7 skos:exactMatch ncbigene:54577 semapv:UnspecifiedMatching -OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:12540 semapv:UnspecifiedMatching -OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:UGT1A8 semapv:UnspecifiedMatching -OMIM:606433 UGT1A8 skos:exactMatch ncbigene:54576 semapv:UnspecifiedMatching -OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:12541 semapv:UnspecifiedMatching -OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:UGT1A9 semapv:UnspecifiedMatching -OMIM:606434 UGT1A9 skos:exactMatch ncbigene:54600 semapv:UnspecifiedMatching -OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:12531 semapv:UnspecifiedMatching -OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:UGT1A10 semapv:UnspecifiedMatching -OMIM:606435 UGT1A10 skos:exactMatch ncbigene:54575 semapv:UnspecifiedMatching -OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:18381 semapv:UnspecifiedMatching -OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:SYT12 semapv:UnspecifiedMatching -OMIM:606436 SYT12 skos:exactMatch ncbigene:91683 semapv:UnspecifiedMatching -OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:11231 semapv:UnspecifiedMatching -OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:ATL1 semapv:UnspecifiedMatching -OMIM:606439 ATL1 skos:exactMatch ncbigene:51062 semapv:UnspecifiedMatching -OMIM:606440 STRC skos:exactMatch hgnc.symbol:16035 semapv:UnspecifiedMatching -OMIM:606440 STRC skos:exactMatch hgnc.symbol:STRC semapv:UnspecifiedMatching -OMIM:606440 STRC skos:exactMatch ncbigene:161497 semapv:UnspecifiedMatching -OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:14348 semapv:UnspecifiedMatching -OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:HTRA2 semapv:UnspecifiedMatching -OMIM:606441 HTRA2 skos:exactMatch ncbigene:27429 semapv:UnspecifiedMatching -OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:24011 semapv:UnspecifiedMatching -OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:ABI2 semapv:UnspecifiedMatching -OMIM:606442 ABI2 skos:exactMatch ncbigene:10152 semapv:UnspecifiedMatching -OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:2347 semapv:UnspecifiedMatching -OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:CREB3 semapv:UnspecifiedMatching -OMIM:606443 CREB3 skos:exactMatch ncbigene:10488 semapv:UnspecifiedMatching -OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:24905 semapv:UnspecifiedMatching -OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:CREBZF semapv:UnspecifiedMatching -OMIM:606444 CREBZF skos:exactMatch ncbigene:58487 semapv:UnspecifiedMatching -OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:21392 semapv:UnspecifiedMatching -OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:SLAMF6 semapv:UnspecifiedMatching -OMIM:606446 SLAMF6 skos:exactMatch ncbigene:114836 semapv:UnspecifiedMatching -OMIM:606447 RNPS1 skos:exactMatch hgnc.symbol:10080 semapv:UnspecifiedMatching -OMIM:606447 RNPS1 skos:exactMatch hgnc.symbol:RNPS1 semapv:UnspecifiedMatching -OMIM:606447 RNPS1 skos:exactMatch ncbigene:10921 semapv:UnspecifiedMatching -OMIM:606448 TXNRD2 skos:exactMatch hgnc.symbol:18155 semapv:UnspecifiedMatching -OMIM:606448 TXNRD2 skos:exactMatch hgnc.symbol:TXNRD2 semapv:UnspecifiedMatching -OMIM:606448 TXNRD2 skos:exactMatch ncbigene:10587 semapv:UnspecifiedMatching -OMIM:606449 PTP4A3 skos:exactMatch hgnc.symbol:9636 semapv:UnspecifiedMatching -OMIM:606449 PTP4A3 skos:exactMatch hgnc.symbol:PTP4A3 semapv:UnspecifiedMatching -OMIM:606449 PTP4A3 skos:exactMatch ncbigene:11156 semapv:UnspecifiedMatching -OMIM:606450 NET1 skos:exactMatch hgnc.symbol:14592 semapv:UnspecifiedMatching -OMIM:606450 NET1 skos:exactMatch hgnc.symbol:NET1 semapv:UnspecifiedMatching -OMIM:606450 NET1 skos:exactMatch ncbigene:10276 semapv:UnspecifiedMatching -OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:29983 semapv:UnspecifiedMatching -OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:ZMAT3 semapv:UnspecifiedMatching -OMIM:606452 ZMAT3 skos:exactMatch ncbigene:64393 semapv:UnspecifiedMatching -OMIM:606453 LRBA skos:exactMatch hgnc.symbol:1742 semapv:UnspecifiedMatching -OMIM:606453 LRBA skos:exactMatch hgnc.symbol:LRBA semapv:UnspecifiedMatching -OMIM:606453 LRBA skos:exactMatch ncbigene:987 semapv:UnspecifiedMatching -OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:3258 semapv:UnspecifiedMatching -OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:EIF2B2 semapv:UnspecifiedMatching -OMIM:606454 EIF2B2 skos:exactMatch ncbigene:8892 semapv:UnspecifiedMatching -OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:14950 semapv:UnspecifiedMatching -OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:PPP1R13B semapv:UnspecifiedMatching -OMIM:606455 PPP1R13B skos:exactMatch ncbigene:23368 semapv:UnspecifiedMatching -OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:7931 semapv:UnspecifiedMatching -OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:NPM3 semapv:UnspecifiedMatching -OMIM:606456 NPM3 skos:exactMatch ncbigene:10360 semapv:UnspecifiedMatching -OMIM:606457 IBTK skos:exactMatch hgnc.symbol:17853 semapv:UnspecifiedMatching -OMIM:606457 IBTK skos:exactMatch hgnc.symbol:IBTK semapv:UnspecifiedMatching -OMIM:606457 IBTK skos:exactMatch ncbigene:25998 semapv:UnspecifiedMatching -OMIM:606458 CSRNP1 skos:exactMatch hgnc.symbol:14300 semapv:UnspecifiedMatching -OMIM:606458 CSRNP1 skos:exactMatch hgnc.symbol:CSRNP1 semapv:UnspecifiedMatching -OMIM:606458 CSRNP1 skos:exactMatch ncbigene:64651 semapv:UnspecifiedMatching -OMIM:606459 OGFR skos:exactMatch hgnc.symbol:15768 semapv:UnspecifiedMatching -OMIM:606459 OGFR skos:exactMatch hgnc.symbol:OGFR semapv:UnspecifiedMatching -OMIM:606459 OGFR skos:exactMatch ncbigene:11054 semapv:UnspecifiedMatching -OMIM:606461 TGS1 skos:exactMatch UMLS:C1869126 semapv:UnspecifiedMatching -OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:17843 semapv:UnspecifiedMatching -OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:TGS1 semapv:UnspecifiedMatching -OMIM:606461 TGS1 skos:exactMatch ncbigene:96764 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch UMLS:C1419235 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch UMLS:C1969653 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch UMLS:C5394577 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:9811 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:RAD21 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch ncbigene:5885 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C1414998 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C1847917 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C2676021 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch hgnc.symbol:GBA1 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch ncbigene:2629 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch UMLS:C1423607 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch UMLS:C4016968 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch hgnc.symbol:15598 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch hgnc.symbol:HAMP semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch ncbigene:57817 semapv:UnspecifiedMatching -OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:14536 semapv:UnspecifiedMatching -OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:KLF15 semapv:UnspecifiedMatching -OMIM:606465 KLF15 skos:exactMatch ncbigene:28999 semapv:UnspecifiedMatching -OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:30091 semapv:UnspecifiedMatching -OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:PRAM1 semapv:UnspecifiedMatching -OMIM:606466 PRAM1 skos:exactMatch ncbigene:84106 semapv:UnspecifiedMatching -OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:15471 semapv:UnspecifiedMatching -OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:ALDH8A1 semapv:UnspecifiedMatching -OMIM:606467 ALDH8A1 skos:exactMatch ncbigene:64577 semapv:UnspecifiedMatching -OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:14264 semapv:UnspecifiedMatching -OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:GAR1 semapv:UnspecifiedMatching -OMIM:606468 GAR1 skos:exactMatch ncbigene:54433 semapv:UnspecifiedMatching -OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:14215 semapv:UnspecifiedMatching -OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:TRIM55 semapv:UnspecifiedMatching -OMIM:606469 RNF29 skos:exactMatch ncbigene:84675 semapv:UnspecifiedMatching -OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:14377 semapv:UnspecifiedMatching -OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:NHP2 semapv:UnspecifiedMatching -OMIM:606470 NHP2 skos:exactMatch ncbigene:55651 semapv:UnspecifiedMatching -OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:14378 semapv:UnspecifiedMatching -OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:NOP10 semapv:UnspecifiedMatching -OMIM:606471 NOP10 skos:exactMatch ncbigene:55505 semapv:UnspecifiedMatching -OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:15592 semapv:UnspecifiedMatching -OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:SS18L1 semapv:UnspecifiedMatching -OMIM:606472 SS18L1 skos:exactMatch ncbigene:26039 semapv:UnspecifiedMatching -OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:15593 semapv:UnspecifiedMatching -OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:SS18L2 semapv:UnspecifiedMatching -OMIM:606473 SS18L2 skos:exactMatch ncbigene:51188 semapv:UnspecifiedMatching -OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:16008 semapv:UnspecifiedMatching -OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:TRIM54 semapv:UnspecifiedMatching -OMIM:606474 RNF30 skos:exactMatch ncbigene:57159 semapv:UnspecifiedMatching -OMIM:606475 CD320 skos:exactMatch hgnc.symbol:16692 semapv:UnspecifiedMatching -OMIM:606475 CD320 skos:exactMatch hgnc.symbol:CD320 semapv:UnspecifiedMatching -OMIM:606475 CD320 skos:exactMatch ncbigene:51293 semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch UMLS:C1423036 semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:14897 semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:ITPKC semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch ncbigene:80271 semapv:UnspecifiedMatching -OMIM:606477 SRR skos:exactMatch hgnc.symbol:14398 semapv:UnspecifiedMatching -OMIM:606477 SRR skos:exactMatch hgnc.symbol:SRR semapv:UnspecifiedMatching -OMIM:606477 SRR skos:exactMatch ncbigene:63826 semapv:UnspecifiedMatching -OMIM:606478 POT1 skos:exactMatch hgnc.symbol:17284 semapv:UnspecifiedMatching -OMIM:606478 POT1 skos:exactMatch hgnc.symbol:POT1 semapv:UnspecifiedMatching -OMIM:606478 POT1 skos:exactMatch ncbigene:25913 semapv:UnspecifiedMatching -OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:14290 semapv:UnspecifiedMatching -OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:NLGN2 semapv:UnspecifiedMatching -OMIM:606479 NLGN2 skos:exactMatch ncbigene:57555 semapv:UnspecifiedMatching -OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:12877 semapv:UnspecifiedMatching -OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:ZMPSTE24 semapv:UnspecifiedMatching -OMIM:606480 ZMPSTE24 skos:exactMatch ncbigene:10269 semapv:UnspecifiedMatching -OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:8956 semapv:UnspecifiedMatching -OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:INPP5J semapv:UnspecifiedMatching -OMIM:606481 PIB5PA skos:exactMatch ncbigene:27124 semapv:UnspecifiedMatching -OMIM:606484 MTPN skos:exactMatch hgnc.symbol:15667 semapv:UnspecifiedMatching -OMIM:606484 MTPN skos:exactMatch hgnc.symbol:MTPN semapv:UnspecifiedMatching -OMIM:606484 MTPN skos:exactMatch ncbigene:136319 semapv:UnspecifiedMatching -OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:14862 semapv:UnspecifiedMatching -OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:POLR2M semapv:UnspecifiedMatching -OMIM:606485 POLR2M skos:exactMatch ncbigene:81488 semapv:UnspecifiedMatching -OMIM:606486 CHMP1B skos:exactMatch UMLS:C1538454 semapv:UnspecifiedMatching -OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:24287 semapv:UnspecifiedMatching -OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:CHMP1B semapv:UnspecifiedMatching -OMIM:606486 CHMP1B skos:exactMatch ncbigene:57132 semapv:UnspecifiedMatching -OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:14922 semapv:UnspecifiedMatching -OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:PLAAT1 semapv:UnspecifiedMatching -OMIM:606487 PLAAT1 skos:exactMatch ncbigene:57110 semapv:UnspecifiedMatching -OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:28112 semapv:UnspecifiedMatching -OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:EXOSC7 semapv:UnspecifiedMatching -OMIM:606488 EXOSC7 skos:exactMatch ncbigene:23016 semapv:UnspecifiedMatching -OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:17944 semapv:UnspecifiedMatching -OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:EXOSC3 semapv:UnspecifiedMatching -OMIM:606489 EXOSC3 skos:exactMatch ncbigene:51010 semapv:UnspecifiedMatching -OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:19055 semapv:UnspecifiedMatching -OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:EXOSC6 semapv:UnspecifiedMatching -OMIM:606490 EXOSC6 skos:exactMatch ncbigene:118460 semapv:UnspecifiedMatching -OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:18189 semapv:UnspecifiedMatching -OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:EXOSC4 semapv:UnspecifiedMatching -OMIM:606491 EXOSC4 skos:exactMatch ncbigene:54512 semapv:UnspecifiedMatching -OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:24662 semapv:UnspecifiedMatching -OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:EXOSC5 semapv:UnspecifiedMatching -OMIM:606492 EXOSC5 skos:exactMatch ncbigene:56915 semapv:UnspecifiedMatching -OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:17286 semapv:UnspecifiedMatching -OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:EXOSC1 semapv:UnspecifiedMatching -OMIM:606493 EXOSC1 skos:exactMatch ncbigene:51013 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1539861 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1970200 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:10866 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:ST3GAL3 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch ncbigene:6487 semapv:UnspecifiedMatching -OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:13538 semapv:UnspecifiedMatching -OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:MARK4 semapv:UnspecifiedMatching -OMIM:606495 MARK4 skos:exactMatch ncbigene:57787 semapv:UnspecifiedMatching -OMIM:606496 IL17F skos:exactMatch hgnc.symbol:16404 semapv:UnspecifiedMatching -OMIM:606496 IL17F skos:exactMatch hgnc.symbol:IL17F semapv:UnspecifiedMatching -OMIM:606496 IL17F skos:exactMatch ncbigene:112744 semapv:UnspecifiedMatching -OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:13479 semapv:UnspecifiedMatching -OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:UGT2B28 semapv:UnspecifiedMatching -OMIM:606497 UGT2B28 skos:exactMatch ncbigene:54490 semapv:UnspecifiedMatching -OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:7317 semapv:UnspecifiedMatching -OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:MS4A3 semapv:UnspecifiedMatching -OMIM:606498 MS4A3 skos:exactMatch ncbigene:932 semapv:UnspecifiedMatching -OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:13374 semapv:UnspecifiedMatching -OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:MS4A5 semapv:UnspecifiedMatching -OMIM:606499 MS4A5 skos:exactMatch ncbigene:64232 semapv:UnspecifiedMatching -OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:18384 semapv:UnspecifiedMatching -OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:SCGB3A1 semapv:UnspecifiedMatching -OMIM:606500 SCGB3A1 skos:exactMatch ncbigene:92304 semapv:UnspecifiedMatching -OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:18191 semapv:UnspecifiedMatching -OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:MTMR12 semapv:UnspecifiedMatching -OMIM:606501 MTMR12 skos:exactMatch ncbigene:54545 semapv:UnspecifiedMatching -OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:13378 semapv:UnspecifiedMatching -OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:MS4A7 semapv:UnspecifiedMatching -OMIM:606502 MS4A7 skos:exactMatch ncbigene:58475 semapv:UnspecifiedMatching -OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:17287 semapv:UnspecifiedMatching -OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:SUV39H2 semapv:UnspecifiedMatching -OMIM:606503 SUV39H2 skos:exactMatch ncbigene:79723 semapv:UnspecifiedMatching -OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:17040 semapv:UnspecifiedMatching -OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:CASC3 semapv:UnspecifiedMatching -OMIM:606504 CASC3 skos:exactMatch ncbigene:22794 semapv:UnspecifiedMatching -OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:30046 semapv:UnspecifiedMatching -OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:PINX1 semapv:UnspecifiedMatching -OMIM:606505 PINX1 skos:exactMatch ncbigene:54984 semapv:UnspecifiedMatching -OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:18509 semapv:UnspecifiedMatching -OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:FCRL1 semapv:UnspecifiedMatching -OMIM:606508 FCRL1 skos:exactMatch ncbigene:115350 semapv:UnspecifiedMatching -OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:14875 semapv:UnspecifiedMatching -OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:FCRL2 semapv:UnspecifiedMatching -OMIM:606509 FCRL2 skos:exactMatch ncbigene:79368 semapv:UnspecifiedMatching -OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:18506 semapv:UnspecifiedMatching -OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:FCRL3 semapv:UnspecifiedMatching -OMIM:606510 FCRL3 skos:exactMatch ncbigene:115352 semapv:UnspecifiedMatching -OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:6896 semapv:UnspecifiedMatching -OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:MARK1 semapv:UnspecifiedMatching -OMIM:606511 MARK1 skos:exactMatch ncbigene:4139 semapv:UnspecifiedMatching -OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:8570 semapv:UnspecifiedMatching -OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:PACSIN1 semapv:UnspecifiedMatching -OMIM:606512 PACSIN1 skos:exactMatch ncbigene:29993 semapv:UnspecifiedMatching -OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:8572 semapv:UnspecifiedMatching -OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:PACSIN3 semapv:UnspecifiedMatching -OMIM:606513 PACSIN3 skos:exactMatch ncbigene:29763 semapv:UnspecifiedMatching -OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:9505 semapv:UnspecifiedMatching -OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:CYTH4 semapv:UnspecifiedMatching -OMIM:606514 CYTH4 skos:exactMatch ncbigene:27128 semapv:UnspecifiedMatching -OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:10037 semapv:UnspecifiedMatching -OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:RN7SK semapv:UnspecifiedMatching -OMIM:606515 RN7SK skos:exactMatch ncbigene:125050 semapv:UnspecifiedMatching -OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:6923 semapv:UnspecifiedMatching -OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:MBNL1 semapv:UnspecifiedMatching -OMIM:606516 MBNL1 skos:exactMatch ncbigene:4154 semapv:UnspecifiedMatching -OMIM:606517 AHRR skos:exactMatch hgnc.symbol:346 semapv:UnspecifiedMatching -OMIM:606517 AHRR skos:exactMatch hgnc.symbol:AHRR semapv:UnspecifiedMatching -OMIM:606517 AHRR skos:exactMatch ncbigene:57491 semapv:UnspecifiedMatching -OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:17866 semapv:UnspecifiedMatching -OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:HAVCR1 semapv:UnspecifiedMatching -OMIM:606518 HAVCR1 skos:exactMatch ncbigene:26762 semapv:UnspecifiedMatching -OMIM:606519 phace association skos:exactMatch Orphanet:42775 semapv:UnspecifiedMatching -OMIM:606519 phace association skos:exactMatch UMLS:C1847874 semapv:UnspecifiedMatching -OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:13937 semapv:UnspecifiedMatching -OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:MPIG6B semapv:UnspecifiedMatching -OMIM:606520 MPIG6B skos:exactMatch ncbigene:80739 semapv:UnspecifiedMatching -OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:14409 semapv:UnspecifiedMatching -OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:SLC25A19 semapv:UnspecifiedMatching -OMIM:606521 SLC25A19 skos:exactMatch ncbigene:60386 semapv:UnspecifiedMatching -OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:4218 semapv:UnspecifiedMatching -OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:GDF3 semapv:UnspecifiedMatching -OMIM:606522 GDF3 skos:exactMatch ncbigene:9573 semapv:UnspecifiedMatching -OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:17382 semapv:UnspecifiedMatching -OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:SRGAP1 semapv:UnspecifiedMatching -OMIM:606523 SRGAP1 skos:exactMatch ncbigene:57522 semapv:UnspecifiedMatching -OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:19751 semapv:UnspecifiedMatching -OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:SRGAP2 semapv:UnspecifiedMatching -OMIM:606524 SRGAP2 skos:exactMatch ncbigene:23380 semapv:UnspecifiedMatching -OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:19744 semapv:UnspecifiedMatching -OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:SRGAP3 semapv:UnspecifiedMatching -OMIM:606525 SRGAP3 skos:exactMatch ncbigene:9901 semapv:UnspecifiedMatching -OMIM:606526 MLPH skos:exactMatch hgnc.symbol:29643 semapv:UnspecifiedMatching -OMIM:606526 MLPH skos:exactMatch hgnc.symbol:MLPH semapv:UnspecifiedMatching -OMIM:606526 MLPH skos:exactMatch ncbigene:79083 semapv:UnspecifiedMatching -OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:2605 semapv:UnspecifiedMatching -OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:CYP27A1 semapv:UnspecifiedMatching -OMIM:606530 CYP27A1 skos:exactMatch ncbigene:1593 semapv:UnspecifiedMatching -OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:18391 semapv:UnspecifiedMatching -OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:SCGB3A2 semapv:UnspecifiedMatching -OMIM:606531 SCGB3A2 skos:exactMatch ncbigene:117156 semapv:UnspecifiedMatching -OMIM:606532 HUNK skos:exactMatch hgnc.symbol:13326 semapv:UnspecifiedMatching -OMIM:606532 HUNK skos:exactMatch hgnc.symbol:HUNK semapv:UnspecifiedMatching -OMIM:606532 HUNK skos:exactMatch ncbigene:30811 semapv:UnspecifiedMatching -OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:2064 semapv:UnspecifiedMatching -OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:CLIC3 semapv:UnspecifiedMatching -OMIM:606533 CLIC3 skos:exactMatch ncbigene:9022 semapv:UnspecifiedMatching -OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:17450 semapv:UnspecifiedMatching -OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:CYP3A43 semapv:UnspecifiedMatching -OMIM:606534 CYP3A43 skos:exactMatch ncbigene:64816 semapv:UnspecifiedMatching -OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:7554 semapv:UnspecifiedMatching -OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:MYCBP semapv:UnspecifiedMatching -OMIM:606535 MYCBP skos:exactMatch ncbigene:26292 semapv:UnspecifiedMatching -OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:13518 semapv:UnspecifiedMatching -OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:CLIC4 semapv:UnspecifiedMatching -OMIM:606536 CLIC4 skos:exactMatch ncbigene:25932 semapv:UnspecifiedMatching -OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:7596 semapv:UnspecifiedMatching -OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:MYO1B semapv:UnspecifiedMatching -OMIM:606537 MYO1B skos:exactMatch ncbigene:4430 semapv:UnspecifiedMatching -OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:7597 semapv:UnspecifiedMatching -OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:MYO1C semapv:UnspecifiedMatching -OMIM:606538 MYO1C skos:exactMatch ncbigene:4641 semapv:UnspecifiedMatching -OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:7598 semapv:UnspecifiedMatching -OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:MYO1D semapv:UnspecifiedMatching -OMIM:606539 MYO1D skos:exactMatch ncbigene:4642 semapv:UnspecifiedMatching -OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:7603 semapv:UnspecifiedMatching -OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:MYO5B semapv:UnspecifiedMatching -OMIM:606540 MYO5B skos:exactMatch ncbigene:4645 semapv:UnspecifiedMatching -OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:7607 semapv:UnspecifiedMatching -OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:MYO7B semapv:UnspecifiedMatching -OMIM:606541 MYO7B skos:exactMatch ncbigene:4648 semapv:UnspecifiedMatching -OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:14067 semapv:UnspecifiedMatching -OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:HDAC7 semapv:UnspecifiedMatching -OMIM:606542 HDAC7A skos:exactMatch ncbigene:51564 semapv:UnspecifiedMatching -OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:14065 semapv:UnspecifiedMatching -OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:HDAC9 semapv:UnspecifiedMatching -OMIM:606543 HDAC9 skos:exactMatch ncbigene:9734 semapv:UnspecifiedMatching -OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:29682 semapv:UnspecifiedMatching -OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:GFM2 semapv:UnspecifiedMatching -OMIM:606544 GFM2 skos:exactMatch ncbigene:84340 semapv:UnspecifiedMatching -OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:5326 semapv:UnspecifiedMatching -OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:HYMAI semapv:UnspecifiedMatching -OMIM:606546 HYMAI skos:exactMatch ncbigene:57061 semapv:UnspecifiedMatching -OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:13371 semapv:UnspecifiedMatching -OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:MS4A4A semapv:UnspecifiedMatching -OMIM:606547 MS4A4A skos:exactMatch ncbigene:51338 semapv:UnspecifiedMatching -OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:13375 semapv:UnspecifiedMatching -OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:MS4A6A semapv:UnspecifiedMatching -OMIM:606548 MS4A6A skos:exactMatch ncbigene:64231 semapv:UnspecifiedMatching -OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:13380 semapv:UnspecifiedMatching -OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:MS4A8 semapv:UnspecifiedMatching -OMIM:606549 MS4A8B skos:exactMatch ncbigene:83661 semapv:UnspecifiedMatching -OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:13370 semapv:UnspecifiedMatching -OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:MS4A12 semapv:UnspecifiedMatching -OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch ncbigene:54860 semapv:UnspecifiedMatching -OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:13861 semapv:UnspecifiedMatching -OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:LZTS1 semapv:UnspecifiedMatching -OMIM:606551 LZTS1 skos:exactMatch ncbigene:11178 semapv:UnspecifiedMatching -OMIM:606553 SLC9A3R2 skos:exactMatch hgnc.symbol:NHERF2 semapv:UnspecifiedMatching -OMIM:606553 SLC9A3R2 skos:exactMatch ncbigene:9351 semapv:UnspecifiedMatching -OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:16288 semapv:UnspecifiedMatching -OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:TRIM9 semapv:UnspecifiedMatching -OMIM:606555 TRIM9 skos:exactMatch ncbigene:114088 semapv:UnspecifiedMatching -OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:16283 semapv:UnspecifiedMatching -OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:TRIM14 semapv:UnspecifiedMatching -OMIM:606556 TRIM14 skos:exactMatch ncbigene:9830 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch UMLS:C1421886 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch UMLS:C4310833 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:13221 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:BCL11A semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch ncbigene:53335 semapv:UnspecifiedMatching -OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:13222 semapv:UnspecifiedMatching -OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:BCL11B semapv:UnspecifiedMatching -OMIM:606558 BCL11B skos:exactMatch ncbigene:64919 semapv:UnspecifiedMatching -OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:16379 semapv:UnspecifiedMatching -OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:TRIM22 semapv:UnspecifiedMatching -OMIM:606559 TRIM22 skos:exactMatch ncbigene:10346 semapv:UnspecifiedMatching -OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:14534 semapv:UnspecifiedMatching -OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:SPAG11B semapv:UnspecifiedMatching -OMIM:606560 SPAG11B skos:exactMatch ncbigene:10407 semapv:UnspecifiedMatching -OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:18761 semapv:UnspecifiedMatching -OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:SLC36A1 semapv:UnspecifiedMatching -OMIM:606561 SLC36A1 skos:exactMatch ncbigene:206358 semapv:UnspecifiedMatching -OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:11860 semapv:UnspecifiedMatching -OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:TM6SF1 semapv:UnspecifiedMatching -OMIM:606562 TM6SF1 skos:exactMatch ncbigene:53346 semapv:UnspecifiedMatching -OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:11861 semapv:UnspecifiedMatching -OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:TM6SF2 semapv:UnspecifiedMatching -OMIM:606563 TM6SF2 skos:exactMatch ncbigene:53345 semapv:UnspecifiedMatching -OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:14107 semapv:UnspecifiedMatching -OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:PMEPA1 semapv:UnspecifiedMatching -OMIM:606564 PMEPA1 skos:exactMatch ncbigene:56937 semapv:UnspecifiedMatching -OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:11878 semapv:UnspecifiedMatching -OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:TMPRSS4 semapv:UnspecifiedMatching -OMIM:606565 TMPRSS4 skos:exactMatch ncbigene:56649 semapv:UnspecifiedMatching -OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:16243 semapv:UnspecifiedMatching -OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:MYLK2 semapv:UnspecifiedMatching -OMIM:606566 MYLK2 skos:exactMatch ncbigene:85366 semapv:UnspecifiedMatching -OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:11856 semapv:UnspecifiedMatching -OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:TM4SF4 semapv:UnspecifiedMatching -OMIM:606567 TM4SF4 skos:exactMatch ncbigene:7104 semapv:UnspecifiedMatching -OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:6741 semapv:UnspecifiedMatching -OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:LZTFL1 semapv:UnspecifiedMatching -OMIM:606568 LZTFL1 skos:exactMatch ncbigene:54585 semapv:UnspecifiedMatching -OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:17059 semapv:UnspecifiedMatching -OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:SACM1L semapv:UnspecifiedMatching -OMIM:606569 SACM1L skos:exactMatch ncbigene:22908 semapv:UnspecifiedMatching -OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:10778 semapv:UnspecifiedMatching -OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:SFRP4 semapv:UnspecifiedMatching -OMIM:606570 SFRP4 skos:exactMatch ncbigene:6424 semapv:UnspecifiedMatching -OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:1224 semapv:UnspecifiedMatching -OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:LDLRAD4 semapv:UnspecifiedMatching -OMIM:606571 LDLRAD4 skos:exactMatch ncbigene:753 semapv:UnspecifiedMatching -OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:14874 semapv:UnspecifiedMatching -OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:NOX5 semapv:UnspecifiedMatching -OMIM:606572 NOX5 skos:exactMatch ncbigene:79400 semapv:UnspecifiedMatching -OMIM:606573 FRK skos:exactMatch hgnc.symbol:3955 semapv:UnspecifiedMatching -OMIM:606573 FRK skos:exactMatch hgnc.symbol:FRK semapv:UnspecifiedMatching -OMIM:606573 FRK skos:exactMatch ncbigene:2444 semapv:UnspecifiedMatching -OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch Orphanet:79435 semapv:UnspecifiedMatching -OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching -OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:13680 semapv:UnspecifiedMatching -OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:MPP4 semapv:UnspecifiedMatching -OMIM:606575 MPP4 skos:exactMatch ncbigene:58538 semapv:UnspecifiedMatching -OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:17303 semapv:UnspecifiedMatching -OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:TAF3 semapv:UnspecifiedMatching -OMIM:606576 TAF3 skos:exactMatch ncbigene:83860 semapv:UnspecifiedMatching -OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:17329 semapv:UnspecifiedMatching -OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:SLA2 semapv:UnspecifiedMatching -OMIM:606577 SLA2 skos:exactMatch ncbigene:84174 semapv:UnspecifiedMatching -OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:16029 semapv:UnspecifiedMatching -OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:AQP10 semapv:UnspecifiedMatching -OMIM:606578 AQP10 skos:exactMatch ncbigene:89872 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch UMLS:C1417955 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:8142 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:OPA3 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch ncbigene:80207 semapv:UnspecifiedMatching -OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:2908 semapv:UnspecifiedMatching -OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:DLL1 semapv:UnspecifiedMatching -OMIM:606582 DLL1 skos:exactMatch ncbigene:28514 semapv:UnspecifiedMatching -OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:9355 semapv:UnspecifiedMatching -OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:PRDX5 semapv:UnspecifiedMatching -OMIM:606583 PRDX5 skos:exactMatch ncbigene:25824 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C1422626 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394578 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394579 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394580 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:14406 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:PTPN23 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch ncbigene:25930 semapv:UnspecifiedMatching -OMIM:606585 ENAM skos:exactMatch hgnc.symbol:3344 semapv:UnspecifiedMatching -OMIM:606585 ENAM skos:exactMatch hgnc.symbol:ENAM semapv:UnspecifiedMatching -OMIM:606585 ENAM skos:exactMatch ncbigene:10117 semapv:UnspecifiedMatching -OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:14873 semapv:UnspecifiedMatching -OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:RAI14 semapv:UnspecifiedMatching -OMIM:606586 RAI14 skos:exactMatch ncbigene:26064 semapv:UnspecifiedMatching -OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:9649 semapv:UnspecifiedMatching -OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:PTPN18 semapv:UnspecifiedMatching -OMIM:606587 PTPN18 skos:exactMatch ncbigene:26469 semapv:UnspecifiedMatching -OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:2980 semapv:UnspecifiedMatching -OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:DNMT3L semapv:UnspecifiedMatching -OMIM:606588 DNMT3L skos:exactMatch ncbigene:29947 semapv:UnspecifiedMatching -OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:21335 semapv:UnspecifiedMatching -OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:SNX13 semapv:UnspecifiedMatching -OMIM:606589 SNX13 skos:exactMatch ncbigene:23161 semapv:UnspecifiedMatching -OMIM:606590 NPLOC4 skos:exactMatch UMLS:C1826464 semapv:UnspecifiedMatching -OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:18261 semapv:UnspecifiedMatching -OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:NPLOC4 semapv:UnspecifiedMatching -OMIM:606590 NPLOC4 skos:exactMatch ncbigene:55666 semapv:UnspecifiedMatching -OMIM:606591 MUS81 skos:exactMatch hgnc.symbol:29814 semapv:UnspecifiedMatching -OMIM:606591 MUS81 skos:exactMatch hgnc.symbol:MUS81 semapv:UnspecifiedMatching -OMIM:606591 MUS81 skos:exactMatch ncbigene:80198 semapv:UnspecifiedMatching -OMIM:606592 VNN3 skos:exactMatch hgnc.symbol:16431 semapv:UnspecifiedMatching -OMIM:606592 VNN3 skos:exactMatch hgnc.symbol:VNN3P semapv:UnspecifiedMatching -OMIM:606592 VNN3 skos:exactMatch ncbigene:55350 semapv:UnspecifiedMatching -OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:30412 semapv:UnspecifiedMatching -OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:SETD7 semapv:UnspecifiedMatching -OMIM:606594 SETD7 skos:exactMatch ncbigene:80854 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C1425226 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C4016970 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch UMLS:C4016971 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch hgnc.symbol:17997 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch hgnc.symbol:FKRP semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch ncbigene:79147 semapv:UnspecifiedMatching -OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:8617 semapv:UnspecifiedMatching -OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:PAX3 semapv:UnspecifiedMatching -OMIM:606597 PAX3 skos:exactMatch ncbigene:5077 semapv:UnspecifiedMatching -OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:15968 semapv:UnspecifiedMatching -OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:GDAP1 semapv:UnspecifiedMatching -OMIM:606598 GDAP1 skos:exactMatch ncbigene:54332 semapv:UnspecifiedMatching -OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:16952 semapv:UnspecifiedMatching -OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:TXNIP semapv:UnspecifiedMatching -OMIM:606599 TXNIP skos:exactMatch ncbigene:10628 semapv:UnspecifiedMatching -OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:9875 semapv:UnspecifiedMatching -OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:RASGRF1 semapv:UnspecifiedMatching -OMIM:606600 RASGRF1 skos:exactMatch ncbigene:5923 semapv:UnspecifiedMatching -OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:14602 semapv:UnspecifiedMatching -OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:ERVE-1 semapv:UnspecifiedMatching -OMIM:606601 ERVE1 skos:exactMatch ncbigene:85314 semapv:UnspecifiedMatching -OMIM:606602 BAALC skos:exactMatch hgnc.symbol:14333 semapv:UnspecifiedMatching -OMIM:606602 BAALC skos:exactMatch hgnc.symbol:BAALC semapv:UnspecifiedMatching -OMIM:606602 BAALC skos:exactMatch ncbigene:79870 semapv:UnspecifiedMatching -OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:14341 semapv:UnspecifiedMatching -OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:EDARADD semapv:UnspecifiedMatching -OMIM:606603 EDARADD skos:exactMatch ncbigene:128178 semapv:UnspecifiedMatching -OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:16731 semapv:UnspecifiedMatching -OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:FBXO32 semapv:UnspecifiedMatching -OMIM:606604 FBXO32 skos:exactMatch ncbigene:114907 semapv:UnspecifiedMatching -OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:33499 semapv:UnspecifiedMatching -OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:ATRIP semapv:UnspecifiedMatching -OMIM:606605 ATRIP skos:exactMatch ncbigene:84126 semapv:UnspecifiedMatching -OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:9536 semapv:UnspecifiedMatching -OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:PSMA7 semapv:UnspecifiedMatching -OMIM:606607 PSMA7 skos:exactMatch ncbigene:5688 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch UMLS:C1424135 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch UMLS:C3805432 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:16262 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:YAP1 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch ncbigene:10413 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch UMLS:C0024145 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch UMLS:C0796126 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch UMLS:C1336670 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch UMLS:C1860518 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch UMLS:C3150315 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:12269 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:TREX1 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch ncbigene:11277 semapv:UnspecifiedMatching -OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:15912 semapv:UnspecifiedMatching -OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:NSFL1C semapv:UnspecifiedMatching -OMIM:606610 NSFL1C skos:exactMatch ncbigene:55968 semapv:UnspecifiedMatching -OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:31702 semapv:UnspecifiedMatching -OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:DEFB103B semapv:UnspecifiedMatching -OMIM:606611 DEFB103A skos:exactMatch ncbigene:55894 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:52428 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching -OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:9876 semapv:UnspecifiedMatching -OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:RASGRF2 semapv:UnspecifiedMatching -OMIM:606614 RASGRF2 skos:exactMatch ncbigene:5924 semapv:UnspecifiedMatching -OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:17113 semapv:UnspecifiedMatching -OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:HIF1AN semapv:UnspecifiedMatching -OMIM:606615 HIF1AN skos:exactMatch ncbigene:55662 semapv:UnspecifiedMatching -OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:17007 semapv:UnspecifiedMatching -OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:DUSP14 semapv:UnspecifiedMatching -OMIM:606618 DUSP14 skos:exactMatch ncbigene:11072 semapv:UnspecifiedMatching -OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:19069 semapv:UnspecifiedMatching -OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:GBA3 semapv:UnspecifiedMatching -OMIM:606619 GBA3 skos:exactMatch ncbigene:57733 semapv:UnspecifiedMatching -OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:21391 semapv:UnspecifiedMatching -OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:SLAMF8 semapv:UnspecifiedMatching -OMIM:606620 SLAMF8 skos:exactMatch ncbigene:56833 semapv:UnspecifiedMatching -OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:17367 semapv:UnspecifiedMatching -OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:IFT57 semapv:UnspecifiedMatching -OMIM:606621 IFT57 skos:exactMatch ncbigene:55081 semapv:UnspecifiedMatching -OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:11102 semapv:UnspecifiedMatching -OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:SMARCAL1 semapv:UnspecifiedMatching -OMIM:606622 SMARCAL1 skos:exactMatch ncbigene:50485 semapv:UnspecifiedMatching -OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:23316 semapv:UnspecifiedMatching -OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:HSD17B6 semapv:UnspecifiedMatching -OMIM:606623 HSD17B6 skos:exactMatch ncbigene:8630 semapv:UnspecifiedMatching -OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:13805 semapv:UnspecifiedMatching -OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:NEUROG2 semapv:UnspecifiedMatching -OMIM:606624 NEUROG2 skos:exactMatch ncbigene:63973 semapv:UnspecifiedMatching -OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:21394 semapv:UnspecifiedMatching -OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:SLAMF7 semapv:UnspecifiedMatching -OMIM:606625 SLAMF7 skos:exactMatch ncbigene:57823 semapv:UnspecifiedMatching -OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:18142 semapv:UnspecifiedMatching -OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:DAAM1 semapv:UnspecifiedMatching -OMIM:606626 DAAM1 skos:exactMatch ncbigene:23002 semapv:UnspecifiedMatching -OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:18143 semapv:UnspecifiedMatching -OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:DAAM2 semapv:UnspecifiedMatching -OMIM:606627 DAAM2 skos:exactMatch ncbigene:23500 semapv:UnspecifiedMatching -OMIM:606628 GNMT skos:exactMatch hgnc.symbol:4415 semapv:UnspecifiedMatching -OMIM:606628 GNMT skos:exactMatch hgnc.symbol:GNMT semapv:UnspecifiedMatching -OMIM:606628 GNMT skos:exactMatch ncbigene:27232 semapv:UnspecifiedMatching -OMIM:606629 RIMS1 skos:exactMatch UMLS:C1424873 semapv:UnspecifiedMatching -OMIM:606629 RIMS1 skos:exactMatch UMLS:C1863634 semapv:UnspecifiedMatching -OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:17282 semapv:UnspecifiedMatching -OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:RIMS1 semapv:UnspecifiedMatching -OMIM:606629 RIMS1 skos:exactMatch ncbigene:22999 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch UMLS:C1424874 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:17283 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:RIMS2 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch ncbigene:9699 semapv:UnspecifiedMatching -OMIM:606633 SP7 skos:exactMatch hgnc.symbol:17321 semapv:UnspecifiedMatching -OMIM:606633 SP7 skos:exactMatch hgnc.symbol:SP7 semapv:UnspecifiedMatching -OMIM:606633 SP7 skos:exactMatch ncbigene:121340 semapv:UnspecifiedMatching -OMIM:606634 DCD skos:exactMatch hgnc.symbol:14669 semapv:UnspecifiedMatching -OMIM:606634 DCD skos:exactMatch hgnc.symbol:DCD semapv:UnspecifiedMatching -OMIM:606634 DCD skos:exactMatch ncbigene:117159 semapv:UnspecifiedMatching -OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:9490 semapv:UnspecifiedMatching -OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:TMPRSS15 semapv:UnspecifiedMatching -OMIM:606635 TMPRSS15 skos:exactMatch ncbigene:5651 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch UMLS:C1826435 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch UMLS:C1847835 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch UMLS:C4479278 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:14374 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:NLRP1 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch ncbigene:22861 semapv:UnspecifiedMatching -OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:9749 semapv:UnspecifiedMatching -OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:PYY2 semapv:UnspecifiedMatching -OMIM:606637 PYY2 skos:exactMatch ncbigene:23615 semapv:UnspecifiedMatching -OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:9328 semapv:UnspecifiedMatching -OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:PPY2P semapv:UnspecifiedMatching -OMIM:606638 PPY2 skos:exactMatch ncbigene:23614 semapv:UnspecifiedMatching -OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:13780 semapv:UnspecifiedMatching -OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:GFM1 semapv:UnspecifiedMatching -OMIM:606639 GFM1 skos:exactMatch ncbigene:85476 semapv:UnspecifiedMatching -OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:17813 semapv:UnspecifiedMatching -OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching -OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching -OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:24097 semapv:UnspecifiedMatching -OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:ARAP3 semapv:UnspecifiedMatching -OMIM:606647 CENTD3 skos:exactMatch ncbigene:64411 semapv:UnspecifiedMatching -OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:14901 semapv:UnspecifiedMatching -OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:IL22RA2 semapv:UnspecifiedMatching -OMIM:606648 IL22RA2 skos:exactMatch ncbigene:116379 semapv:UnspecifiedMatching -OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:13561 semapv:UnspecifiedMatching -OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:HIVEP3 semapv:UnspecifiedMatching -OMIM:606649 HIVEP3 skos:exactMatch ncbigene:59269 semapv:UnspecifiedMatching -OMIM:606650 GRIN3A skos:exactMatch UMLS:C1424528 semapv:UnspecifiedMatching -OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:16767 semapv:UnspecifiedMatching -OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:GRIN3A semapv:UnspecifiedMatching -OMIM:606650 GRIN3A skos:exactMatch ncbigene:116443 semapv:UnspecifiedMatching -OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:16768 semapv:UnspecifiedMatching -OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:GRIN3B semapv:UnspecifiedMatching -OMIM:606651 GRIN3B skos:exactMatch ncbigene:116444 semapv:UnspecifiedMatching -OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:18437 semapv:UnspecifiedMatching -OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:HAVCR2 semapv:UnspecifiedMatching -OMIM:606652 HAVCR2 skos:exactMatch ncbigene:84868 semapv:UnspecifiedMatching -OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:19719 semapv:UnspecifiedMatching -OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:LGR6 semapv:UnspecifiedMatching -OMIM:606653 LGR6 skos:exactMatch ncbigene:59352 semapv:UnspecifiedMatching -OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:19718 semapv:UnspecifiedMatching -OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:RXFP1 semapv:UnspecifiedMatching -OMIM:606654 RXFP1 skos:exactMatch ncbigene:59350 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch UMLS:C1424898 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:17318 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:RXFP2 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch ncbigene:122042 semapv:UnspecifiedMatching -OMIM:606659 TIMM8B skos:exactMatch UMLS:C1420741 semapv:UnspecifiedMatching -OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:11818 semapv:UnspecifiedMatching -OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:TIMM8B semapv:UnspecifiedMatching -OMIM:606659 TIMM8B skos:exactMatch ncbigene:26521 semapv:UnspecifiedMatching -OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:6666 semapv:UnspecifiedMatching -OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:LOXL2 semapv:UnspecifiedMatching -OMIM:606663 LOXL2 skos:exactMatch ncbigene:4017 semapv:UnspecifiedMatching -OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:14449 semapv:UnspecifiedMatching -OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:OPN4 semapv:UnspecifiedMatching -OMIM:606665 OPN4 skos:exactMatch ncbigene:94233 semapv:UnspecifiedMatching -OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:13299 semapv:UnspecifiedMatching -OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:LGR4 semapv:UnspecifiedMatching -OMIM:606666 LGR4 skos:exactMatch ncbigene:55366 semapv:UnspecifiedMatching -OMIM:606667 LGR5 skos:exactMatch UMLS:C1537570 semapv:UnspecifiedMatching -OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:4504 semapv:UnspecifiedMatching -OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:LGR5 semapv:UnspecifiedMatching -OMIM:606667 LGR5 skos:exactMatch ncbigene:8549 semapv:UnspecifiedMatching -OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:4029 semapv:UnspecifiedMatching -OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:FXYD5 semapv:UnspecifiedMatching -OMIM:606669 FXYD5 skos:exactMatch ncbigene:53827 semapv:UnspecifiedMatching -OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:9285 semapv:UnspecifiedMatching -OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:PPP1R11 semapv:UnspecifiedMatching -OMIM:606670 PPP1R11 skos:exactMatch ncbigene:6992 semapv:UnspecifiedMatching -OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:15486 semapv:UnspecifiedMatching -OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:NCKIPSD semapv:UnspecifiedMatching -OMIM:606671 NCKIPSD skos:exactMatch ncbigene:51517 semapv:UnspecifiedMatching -OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:4439 semapv:UnspecifiedMatching -OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:GP1BA semapv:UnspecifiedMatching -OMIM:606672 GP1BA skos:exactMatch ncbigene:2811 semapv:UnspecifiedMatching -OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:16297 semapv:UnspecifiedMatching -OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:UPB1 semapv:UnspecifiedMatching -OMIM:606673 UPB1 skos:exactMatch ncbigene:51733 semapv:UnspecifiedMatching -OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:18082 semapv:UnspecifiedMatching -OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:TRPV2 semapv:UnspecifiedMatching -OMIM:606676 TRPV2 skos:exactMatch ncbigene:51393 semapv:UnspecifiedMatching -OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:13258 semapv:UnspecifiedMatching -OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:CLEC4C semapv:UnspecifiedMatching -OMIM:606677 CLEC4C skos:exactMatch ncbigene:170482 semapv:UnspecifiedMatching -OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:17961 semapv:UnspecifiedMatching -OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:TRPM8 semapv:UnspecifiedMatching -OMIM:606678 TRPM8 skos:exactMatch ncbigene:79054 semapv:UnspecifiedMatching -OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:3145 semapv:UnspecifiedMatching -OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:TRPV5 semapv:UnspecifiedMatching -OMIM:606679 TRPV5 skos:exactMatch ncbigene:56302 semapv:UnspecifiedMatching -OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:14006 semapv:UnspecifiedMatching -OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:TRPV6 semapv:UnspecifiedMatching -OMIM:606680 TRPV6 skos:exactMatch ncbigene:55503 semapv:UnspecifiedMatching -OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:14234 semapv:UnspecifiedMatching -OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:NSD1 semapv:UnspecifiedMatching -OMIM:606681 NSD1 skos:exactMatch ncbigene:64324 semapv:UnspecifiedMatching -OMIM:606682 HPS4 skos:exactMatch UMLS:C1423767 semapv:UnspecifiedMatching -OMIM:606682 HPS4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching -OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:15844 semapv:UnspecifiedMatching -OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:HPS4 semapv:UnspecifiedMatching -OMIM:606682 HPS4 skos:exactMatch ncbigene:89781 semapv:UnspecifiedMatching -OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:4030 semapv:UnspecifiedMatching -OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:FXYD6 semapv:UnspecifiedMatching -OMIM:606683 FXYD6 skos:exactMatch ncbigene:53826 semapv:UnspecifiedMatching -OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:4034 semapv:UnspecifiedMatching -OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:FXYD7 semapv:UnspecifiedMatching -OMIM:606684 FXYD7 skos:exactMatch ncbigene:53822 semapv:UnspecifiedMatching -OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch UMLS:C1847667 semapv:UnspecifiedMatching -OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:3257 semapv:UnspecifiedMatching -OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:EIF2B1 semapv:UnspecifiedMatching -OMIM:606686 EIF2B1 skos:exactMatch ncbigene:1967 semapv:UnspecifiedMatching -OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:3260 semapv:UnspecifiedMatching -OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:EIF2B4 semapv:UnspecifiedMatching -OMIM:606687 EIF2B4 skos:exactMatch ncbigene:8890 semapv:UnspecifiedMatching -OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:31951 semapv:UnspecifiedMatching -OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:CEACAM19 semapv:UnspecifiedMatching -OMIM:606691 CEACAM19 skos:exactMatch ncbigene:56971 semapv:UnspecifiedMatching -OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:20456 semapv:UnspecifiedMatching -OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:TRAF7 semapv:UnspecifiedMatching -OMIM:606692 TRAF7 skos:exactMatch ncbigene:84231 semapv:UnspecifiedMatching -OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:306674 semapv:UnspecifiedMatching -OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching -OMIM:606693 kufor-rakeb syndrome skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching -OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:8063 semapv:UnspecifiedMatching -OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:NUP155 semapv:UnspecifiedMatching -OMIM:606694 NUP155 skos:exactMatch ncbigene:9631 semapv:UnspecifiedMatching -OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:14007 semapv:UnspecifiedMatching -OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:OPN3 semapv:UnspecifiedMatching -OMIM:606695 OPN3 skos:exactMatch ncbigene:23596 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch UMLS:C1416541 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:6216 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:KATNA1 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch ncbigene:11104 semapv:UnspecifiedMatching -OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:20878 semapv:UnspecifiedMatching -OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:ZNF443 semapv:UnspecifiedMatching -OMIM:606697 zinc finger protein zk1 skos:exactMatch ncbigene:10224 semapv:UnspecifiedMatching -OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:30635 semapv:UnspecifiedMatching -OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:SOX30 semapv:UnspecifiedMatching -OMIM:606698 sry-box 30 skos:exactMatch ncbigene:11063 semapv:UnspecifiedMatching -OMIM:606699 HELZ skos:exactMatch hgnc.symbol:16878 semapv:UnspecifiedMatching -OMIM:606699 HELZ skos:exactMatch hgnc.symbol:HELZ semapv:UnspecifiedMatching -OMIM:606699 HELZ skos:exactMatch ncbigene:9931 semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch UMLS:C1424166 semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch hgnc.symbol:16298 semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch hgnc.symbol:MIDN semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch ncbigene:90007 semapv:UnspecifiedMatching -OMIM:606701 DRGX skos:exactMatch hgnc.symbol:21536 semapv:UnspecifiedMatching -OMIM:606701 DRGX skos:exactMatch hgnc.symbol:DRGX semapv:UnspecifiedMatching -OMIM:606701 DRGX skos:exactMatch ncbigene:644168 semapv:UnspecifiedMatching -OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:9016 semapv:UnspecifiedMatching -OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:PKHD1 semapv:UnspecifiedMatching -OMIM:606702 PKHD1 skos:exactMatch ncbigene:5314 semapv:UnspecifiedMatching -OMIM:606704 GPR75 skos:exactMatch UMLS:C1415257 semapv:UnspecifiedMatching -OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:4526 semapv:UnspecifiedMatching -OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:GPR75 semapv:UnspecifiedMatching -OMIM:606704 GPR75 skos:exactMatch ncbigene:10936 semapv:UnspecifiedMatching -OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:16513 semapv:UnspecifiedMatching -OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:TMC1 semapv:UnspecifiedMatching -OMIM:606706 TMC1 skos:exactMatch ncbigene:117531 semapv:UnspecifiedMatching -OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:16527 semapv:UnspecifiedMatching -OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:TMC2 semapv:UnspecifiedMatching -OMIM:606707 TMC2 skos:exactMatch ncbigene:117532 semapv:UnspecifiedMatching -OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:9477 semapv:UnspecifiedMatching -OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:PRSS12 semapv:UnspecifiedMatching -OMIM:606709 PRSS12 skos:exactMatch ncbigene:8492 semapv:UnspecifiedMatching -OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:6586 semapv:UnspecifiedMatching -OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:LHFPL6 semapv:UnspecifiedMatching -OMIM:606710 LHFPL6 skos:exactMatch ncbigene:10186 semapv:UnspecifiedMatching -OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:17278 semapv:UnspecifiedMatching -OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:PNRC1 semapv:UnspecifiedMatching -OMIM:606714 PNRC1 skos:exactMatch ncbigene:10957 semapv:UnspecifiedMatching -OMIM:606715 ASIC4 skos:exactMatch UMLS:C1427464 semapv:UnspecifiedMatching -OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:21263 semapv:UnspecifiedMatching -OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:ASIC4 semapv:UnspecifiedMatching -OMIM:606715 ASIC4 skos:exactMatch ncbigene:55515 semapv:UnspecifiedMatching -OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:18069 semapv:UnspecifiedMatching -OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:NAT8 semapv:UnspecifiedMatching -OMIM:606716 NAT8 skos:exactMatch ncbigene:9027 semapv:UnspecifiedMatching -OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:30932 semapv:UnspecifiedMatching -OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:XAF1 semapv:UnspecifiedMatching -OMIM:606717 XAF1 skos:exactMatch ncbigene:54739 semapv:UnspecifiedMatching -OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:10994 semapv:UnspecifiedMatching -OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:SLC26A2 semapv:UnspecifiedMatching -OMIM:606718 SLC26A2 skos:exactMatch ncbigene:1836 semapv:UnspecifiedMatching -OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:14369 semapv:UnspecifiedMatching -OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:ENDOU semapv:UnspecifiedMatching -OMIM:606720 ENDOU skos:exactMatch ncbigene:8909 semapv:UnspecifiedMatching -OMIM:606722 NCALD skos:exactMatch hgnc.symbol:7655 semapv:UnspecifiedMatching -OMIM:606722 NCALD skos:exactMatch hgnc.symbol:NCALD semapv:UnspecifiedMatching -OMIM:606722 NCALD skos:exactMatch ncbigene:83988 semapv:UnspecifiedMatching -OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:6889 semapv:UnspecifiedMatching -OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:MAPKAPK5 semapv:UnspecifiedMatching -OMIM:606723 MAPKAPK5 skos:exactMatch ncbigene:8550 semapv:UnspecifiedMatching -OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:7110 semapv:UnspecifiedMatching -OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:MKNK1 semapv:UnspecifiedMatching -OMIM:606724 MKNK1 skos:exactMatch ncbigene:8569 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch UMLS:C1413498 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:2077 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:CLN6 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch ncbigene:54982 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch UMLS:C1422213 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225245 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:13818 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:SLC12A5 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch ncbigene:57468 semapv:UnspecifiedMatching -OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:7836 semapv:UnspecifiedMatching -OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:NKX2-3 semapv:UnspecifiedMatching -OMIM:606727 NKX2-3 skos:exactMatch ncbigene:159296 semapv:UnspecifiedMatching -OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:10690 semapv:UnspecifiedMatching -OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:CAVIN2 semapv:UnspecifiedMatching -OMIM:606728 CAVIN2 skos:exactMatch ncbigene:8436 semapv:UnspecifiedMatching -OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:8504 semapv:UnspecifiedMatching -OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:OSBP2 semapv:UnspecifiedMatching -OMIM:606729 OSBP2 skos:exactMatch ncbigene:23762 semapv:UnspecifiedMatching -OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:16398 semapv:UnspecifiedMatching -OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:OSBPL1A semapv:UnspecifiedMatching -OMIM:606730 OSBPL1A skos:exactMatch ncbigene:114876 semapv:UnspecifiedMatching -OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:15761 semapv:UnspecifiedMatching -OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:OSBPL2 semapv:UnspecifiedMatching -OMIM:606731 OSBPL2 skos:exactMatch ncbigene:9885 semapv:UnspecifiedMatching -OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:16370 semapv:UnspecifiedMatching -OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:OSBPL3 semapv:UnspecifiedMatching -OMIM:606732 OSBPL3 skos:exactMatch ncbigene:26031 semapv:UnspecifiedMatching -OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:16392 semapv:UnspecifiedMatching -OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:OSBPL5 semapv:UnspecifiedMatching -OMIM:606733 OSBPL5 skos:exactMatch ncbigene:114879 semapv:UnspecifiedMatching -OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:16388 semapv:UnspecifiedMatching -OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:OSBPL6 semapv:UnspecifiedMatching -OMIM:606734 OSBPL6 skos:exactMatch ncbigene:114880 semapv:UnspecifiedMatching -OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:16387 semapv:UnspecifiedMatching -OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:OSBPL7 semapv:UnspecifiedMatching -OMIM:606735 OSBPL7 skos:exactMatch ncbigene:114881 semapv:UnspecifiedMatching -OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:16396 semapv:UnspecifiedMatching -OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:OSBPL8 semapv:UnspecifiedMatching -OMIM:606736 OSBPL8 skos:exactMatch ncbigene:114882 semapv:UnspecifiedMatching -OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:16386 semapv:UnspecifiedMatching -OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:OSBPL9 semapv:UnspecifiedMatching -OMIM:606737 OSBPL9 skos:exactMatch ncbigene:114883 semapv:UnspecifiedMatching -OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:16395 semapv:UnspecifiedMatching -OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:OSBPL10 semapv:UnspecifiedMatching -OMIM:606738 OSBPL10 skos:exactMatch ncbigene:114884 semapv:UnspecifiedMatching -OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:16397 semapv:UnspecifiedMatching -OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:OSBPL11 semapv:UnspecifiedMatching -OMIM:606739 OSBPL11 skos:exactMatch ncbigene:114885 semapv:UnspecifiedMatching -OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:12970 semapv:UnspecifiedMatching -OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:ZNF180 semapv:UnspecifiedMatching -OMIM:606740 ZNF180 skos:exactMatch ncbigene:7733 semapv:UnspecifiedMatching -OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:12971 semapv:UnspecifiedMatching -OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:ZNF181 semapv:UnspecifiedMatching -OMIM:606741 ZNF181 skos:exactMatch ncbigene:339318 semapv:UnspecifiedMatching -OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:11843 semapv:UnspecifiedMatching -OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:TLL1 semapv:UnspecifiedMatching -OMIM:606742 TLL1 skos:exactMatch ncbigene:7092 semapv:UnspecifiedMatching -OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:11844 semapv:UnspecifiedMatching -OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:TLL2 semapv:UnspecifiedMatching -OMIM:606743 TLL2 skos:exactMatch ncbigene:7093 semapv:UnspecifiedMatching -OMIM:606745 PARD3 skos:exactMatch UMLS:C1423939 semapv:UnspecifiedMatching -OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:16051 semapv:UnspecifiedMatching -OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:PARD3 semapv:UnspecifiedMatching -OMIM:606745 PARD3 skos:exactMatch ncbigene:56288 semapv:UnspecifiedMatching -OMIM:606746 MYDGF skos:exactMatch UMLS:C1424658 semapv:UnspecifiedMatching -OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:16948 semapv:UnspecifiedMatching -OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:MYDGF semapv:UnspecifiedMatching -OMIM:606746 MYDGF skos:exactMatch ncbigene:56005 semapv:UnspecifiedMatching -OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:12949 semapv:UnspecifiedMatching -OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:VEZF1 semapv:UnspecifiedMatching -OMIM:606747 VEZF1 skos:exactMatch ncbigene:7716 semapv:UnspecifiedMatching -OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:18304 semapv:UnspecifiedMatching -OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:COTL1 semapv:UnspecifiedMatching -OMIM:606748 COTL1 skos:exactMatch ncbigene:23406 semapv:UnspecifiedMatching -OMIM:606749 TINAG skos:exactMatch hgnc.symbol:14599 semapv:UnspecifiedMatching -OMIM:606749 TINAG skos:exactMatch hgnc.symbol:TINAG semapv:UnspecifiedMatching -OMIM:606749 TINAG skos:exactMatch ncbigene:27283 semapv:UnspecifiedMatching -OMIM:606750 ZBP1 skos:exactMatch UMLS:C1424053 semapv:UnspecifiedMatching -OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:16176 semapv:UnspecifiedMatching -OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:ZBP1 semapv:UnspecifiedMatching -OMIM:606750 ZBP1 skos:exactMatch ncbigene:81030 semapv:UnspecifiedMatching -OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:14908 semapv:UnspecifiedMatching -OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:TMPRSS5 semapv:UnspecifiedMatching -OMIM:606751 TMPRSS5 skos:exactMatch ncbigene:80975 semapv:UnspecifiedMatching -OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:12394 semapv:UnspecifiedMatching -OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:TTC4 semapv:UnspecifiedMatching -OMIM:606753 TTC4 skos:exactMatch ncbigene:7268 semapv:UnspecifiedMatching -OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:15925 semapv:UnspecifiedMatching -OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:SAMHD1 semapv:UnspecifiedMatching -OMIM:606754 SAMHD1 skos:exactMatch ncbigene:25939 semapv:UnspecifiedMatching -OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:18337 semapv:UnspecifiedMatching -OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:PADI3 semapv:UnspecifiedMatching -OMIM:606755 PADI3 skos:exactMatch ncbigene:51702 semapv:UnspecifiedMatching -OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:5215 semapv:UnspecifiedMatching -OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:HSD17B7 semapv:UnspecifiedMatching -OMIM:606756 HSD17B7 skos:exactMatch ncbigene:51478 semapv:UnspecifiedMatching -OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:18168 semapv:UnspecifiedMatching -OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:SLC4A5 semapv:UnspecifiedMatching -OMIM:606757 SLC4A5 skos:exactMatch ncbigene:57835 semapv:UnspecifiedMatching -OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:3062 semapv:UnspecifiedMatching -OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:DUOX1 semapv:UnspecifiedMatching -OMIM:606758 DUOX1 skos:exactMatch ncbigene:53905 semapv:UnspecifiedMatching -OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:13273 semapv:UnspecifiedMatching -OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:DUOX2 semapv:UnspecifiedMatching -OMIM:606759 DUOX2 skos:exactMatch ncbigene:50506 semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch UMLS:C1417196 semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:7150 semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:MLYCD semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch ncbigene:23417 semapv:UnspecifiedMatching -OMIM:606765 TPO skos:exactMatch hgnc.symbol:12015 semapv:UnspecifiedMatching -OMIM:606765 TPO skos:exactMatch hgnc.symbol:TPO semapv:UnspecifiedMatching -OMIM:606765 TPO skos:exactMatch ncbigene:7173 semapv:UnspecifiedMatching -OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:18306 semapv:UnspecifiedMatching -OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:KCNG3 semapv:UnspecifiedMatching -OMIM:606767 KCNG3 skos:exactMatch ncbigene:170850 semapv:UnspecifiedMatching -OMIM:606769 HELQ skos:exactMatch hgnc.symbol:18536 semapv:UnspecifiedMatching -OMIM:606769 HELQ skos:exactMatch hgnc.symbol:HELQ semapv:UnspecifiedMatching -OMIM:606769 HELQ skos:exactMatch ncbigene:113510 semapv:UnspecifiedMatching -OMIM:606774 MIOX skos:exactMatch hgnc.symbol:14522 semapv:UnspecifiedMatching -OMIM:606774 MIOX skos:exactMatch hgnc.symbol:MIOX semapv:UnspecifiedMatching -OMIM:606774 MIOX skos:exactMatch ncbigene:55586 semapv:UnspecifiedMatching -OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:2467 semapv:UnspecifiedMatching -OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:CSPG5 semapv:UnspecifiedMatching -OMIM:606775 CSPG5 skos:exactMatch ncbigene:10675 semapv:UnspecifiedMatching -OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:30790 semapv:UnspecifiedMatching -OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:TGM7 semapv:UnspecifiedMatching -OMIM:606776 TGM7 skos:exactMatch ncbigene:116179 semapv:UnspecifiedMatching -OMIM:606778 SSH1 skos:exactMatch UMLS:C1539855 semapv:UnspecifiedMatching -OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:30579 semapv:UnspecifiedMatching -OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:SSH1 semapv:UnspecifiedMatching -OMIM:606778 SSH1 skos:exactMatch ncbigene:54434 semapv:UnspecifiedMatching -OMIM:606779 SSH2 skos:exactMatch UMLS:C1539856 semapv:UnspecifiedMatching -OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:30580 semapv:UnspecifiedMatching -OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:SSH2 semapv:UnspecifiedMatching -OMIM:606779 SSH2 skos:exactMatch ncbigene:85464 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch UMLS:C1539857 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:30581 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:SSH3 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch ncbigene:54961 semapv:UnspecifiedMatching -OMIM:606781 TKT skos:exactMatch hgnc.symbol:11834 semapv:UnspecifiedMatching -OMIM:606781 TKT skos:exactMatch hgnc.symbol:TKT semapv:UnspecifiedMatching -OMIM:606781 TKT skos:exactMatch ncbigene:7086 semapv:UnspecifiedMatching -OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:24355 semapv:UnspecifiedMatching -OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:CLEC1A semapv:UnspecifiedMatching -OMIM:606782 CLEC1A skos:exactMatch ncbigene:51267 semapv:UnspecifiedMatching -OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:24356 semapv:UnspecifiedMatching -OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:CLEC1B semapv:UnspecifiedMatching -OMIM:606783 CLEC1B skos:exactMatch ncbigene:51266 semapv:UnspecifiedMatching -OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:4616 semapv:UnspecifiedMatching -OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:GSK3A semapv:UnspecifiedMatching -OMIM:606784 GSK3A skos:exactMatch ncbigene:2931 semapv:UnspecifiedMatching -OMIM:606786 CD300C skos:exactMatch hgnc.symbol:19320 semapv:UnspecifiedMatching -OMIM:606786 CD300C skos:exactMatch hgnc.symbol:CD300C semapv:UnspecifiedMatching -OMIM:606786 CD300C skos:exactMatch ncbigene:10871 semapv:UnspecifiedMatching -OMIM:606790 CD300A skos:exactMatch hgnc.symbol:19319 semapv:UnspecifiedMatching -OMIM:606790 CD300A skos:exactMatch hgnc.symbol:CD300A semapv:UnspecifiedMatching -OMIM:606790 CD300A skos:exactMatch ncbigene:11314 semapv:UnspecifiedMatching -OMIM:606791 TPTE2 skos:exactMatch UMLS:C1540044 semapv:UnspecifiedMatching -OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:17299 semapv:UnspecifiedMatching -OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:TPTE2 semapv:UnspecifiedMatching -OMIM:606791 TPTE2 skos:exactMatch ncbigene:93492 semapv:UnspecifiedMatching -OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:17383 semapv:UnspecifiedMatching -OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:HRH4 semapv:UnspecifiedMatching -OMIM:606792 HRH4 skos:exactMatch ncbigene:59340 semapv:UnspecifiedMatching -OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:7900 semapv:UnspecifiedMatching -OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:NPEPPS semapv:UnspecifiedMatching -OMIM:606793 NPEPPS skos:exactMatch ncbigene:9520 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch UMLS:C1420151 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:10980 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:SLC25A10 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch ncbigene:1468 semapv:UnspecifiedMatching -OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:10987 semapv:UnspecifiedMatching -OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:SLC25A17 semapv:UnspecifiedMatching -OMIM:606795 SLC25A17 skos:exactMatch ncbigene:10478 semapv:UnspecifiedMatching -OMIM:606796 ST13 skos:exactMatch hgnc.symbol:11343 semapv:UnspecifiedMatching -OMIM:606796 ST13 skos:exactMatch hgnc.symbol:ST13 semapv:UnspecifiedMatching -OMIM:606796 ST13 skos:exactMatch ncbigene:6767 semapv:UnspecifiedMatching -OMIM:606797 ST14 skos:exactMatch hgnc.symbol:11344 semapv:UnspecifiedMatching -OMIM:606797 ST14 skos:exactMatch hgnc.symbol:ST14 semapv:UnspecifiedMatching -OMIM:606797 ST14 skos:exactMatch ncbigene:6768 semapv:UnspecifiedMatching -OMIM:606800 GAA skos:exactMatch hgnc.symbol:4065 semapv:UnspecifiedMatching -OMIM:606800 GAA skos:exactMatch hgnc.symbol:GAA semapv:UnspecifiedMatching -OMIM:606800 GAA skos:exactMatch ncbigene:2548 semapv:UnspecifiedMatching -OMIM:606801 MAEA skos:exactMatch hgnc.symbol:13731 semapv:UnspecifiedMatching -OMIM:606801 MAEA skos:exactMatch hgnc.symbol:MAEA semapv:UnspecifiedMatching -OMIM:606801 MAEA skos:exactMatch ncbigene:10296 semapv:UnspecifiedMatching -OMIM:606802 SPIB skos:exactMatch hgnc.symbol:11242 semapv:UnspecifiedMatching -OMIM:606802 SPIB skos:exactMatch hgnc.symbol:SPIB semapv:UnspecifiedMatching -OMIM:606802 SPIB skos:exactMatch ncbigene:6689 semapv:UnspecifiedMatching -OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:18156 semapv:UnspecifiedMatching -OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:ACOT11 semapv:UnspecifiedMatching -OMIM:606803 ACOT11 skos:exactMatch ncbigene:26027 semapv:UnspecifiedMatching -OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:15451 semapv:UnspecifiedMatching -OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:GOLM1 semapv:UnspecifiedMatching -OMIM:606804 GOLM1 skos:exactMatch ncbigene:51280 semapv:UnspecifiedMatching -OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:15448 semapv:UnspecifiedMatching -OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:GOLIM4 semapv:UnspecifiedMatching -OMIM:606805 GOLIM4 skos:exactMatch ncbigene:27333 semapv:UnspecifiedMatching -OMIM:606806 FTCD skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching -OMIM:606806 FTCD skos:exactMatch UMLS:C1414832 semapv:UnspecifiedMatching -OMIM:606806 FTCD skos:exactMatch hgnc.symbol:3974 semapv:UnspecifiedMatching -OMIM:606806 FTCD skos:exactMatch hgnc.symbol:FTCD semapv:UnspecifiedMatching -OMIM:606806 FTCD skos:exactMatch ncbigene:10841 semapv:UnspecifiedMatching -OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:17616 semapv:UnspecifiedMatching -OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:IL17RD semapv:UnspecifiedMatching -OMIM:606807 IL17RD skos:exactMatch ncbigene:54756 semapv:UnspecifiedMatching -OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:7601 semapv:UnspecifiedMatching -OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:MYO3A semapv:UnspecifiedMatching -OMIM:606808 MYO3A skos:exactMatch ncbigene:53904 semapv:UnspecifiedMatching -OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:15453 semapv:UnspecifiedMatching -OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:ACBD3 semapv:UnspecifiedMatching -OMIM:606809 ACBD3 skos:exactMatch ncbigene:64746 semapv:UnspecifiedMatching -OMIM:606810 PRODH skos:exactMatch hgnc.symbol:9453 semapv:UnspecifiedMatching -OMIM:606810 PRODH skos:exactMatch hgnc.symbol:PRODH semapv:UnspecifiedMatching -OMIM:606810 PRODH skos:exactMatch ncbigene:5625 semapv:UnspecifiedMatching -OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:406 semapv:UnspecifiedMatching -OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:ALDH4A1 semapv:UnspecifiedMatching -OMIM:606811 ALDH4A1 skos:exactMatch ncbigene:8659 semapv:UnspecifiedMatching -OMIM:606812 fumarase deficiency skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching -OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching -OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C2936826 semapv:UnspecifiedMatching -OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:11011 semapv:UnspecifiedMatching -OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:SLC2A6 semapv:UnspecifiedMatching -OMIM:606813 SLC2A6 skos:exactMatch ncbigene:11182 semapv:UnspecifiedMatching -OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:9363 semapv:UnspecifiedMatching -OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:PRG3 semapv:UnspecifiedMatching -OMIM:606814 PRG3 skos:exactMatch ncbigene:10394 semapv:UnspecifiedMatching -OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:18696 semapv:UnspecifiedMatching -OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:CITED4 semapv:UnspecifiedMatching -OMIM:606815 CITED4 skos:exactMatch ncbigene:163732 semapv:UnspecifiedMatching -OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:25967 semapv:UnspecifiedMatching -OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:SIDT1 semapv:UnspecifiedMatching -OMIM:606816 SIDT1 skos:exactMatch ncbigene:54847 semapv:UnspecifiedMatching -OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:21290 semapv:UnspecifiedMatching -OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:PTCRA semapv:UnspecifiedMatching -OMIM:606817 PTCRA skos:exactMatch ncbigene:171558 semapv:UnspecifiedMatching -OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:3008 semapv:UnspecifiedMatching -OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:DPP3 semapv:UnspecifiedMatching -OMIM:606818 DPP3 skos:exactMatch ncbigene:10072 semapv:UnspecifiedMatching -OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:16490 semapv:UnspecifiedMatching -OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:DPP8 semapv:UnspecifiedMatching -OMIM:606819 DPP8 skos:exactMatch ncbigene:54878 semapv:UnspecifiedMatching -OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:16065 semapv:UnspecifiedMatching -OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:GLRX2 semapv:UnspecifiedMatching -OMIM:606820 GLRX2 skos:exactMatch ncbigene:51022 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch UMLS:C1423002 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch hgnc.symbol:14857 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch hgnc.symbol:COG5 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch ncbigene:10466 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C1826644 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch UMLS:C4310704 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:19139 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:POMGNT1 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch ncbigene:55624 semapv:UnspecifiedMatching -OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:17849 semapv:UnspecifiedMatching -OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:ADGRA2 semapv:UnspecifiedMatching -OMIM:606823 ADGRA2 skos:exactMatch ncbigene:25960 semapv:UnspecifiedMatching -OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:21616 semapv:UnspecifiedMatching -OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:TNS3 semapv:UnspecifiedMatching -OMIM:606825 TNS3 skos:exactMatch ncbigene:64759 semapv:UnspecifiedMatching -OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:20945 semapv:UnspecifiedMatching -OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:PLXDC1 semapv:UnspecifiedMatching -OMIM:606826 PLXDC1 skos:exactMatch ncbigene:57125 semapv:UnspecifiedMatching -OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:21013 semapv:UnspecifiedMatching -OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:PLXDC2 semapv:UnspecifiedMatching -OMIM:606827 PLXDC2 skos:exactMatch ncbigene:84898 semapv:UnspecifiedMatching -OMIM:606828 NAGK skos:exactMatch hgnc.symbol:17174 semapv:UnspecifiedMatching -OMIM:606828 NAGK skos:exactMatch hgnc.symbol:NAGK semapv:UnspecifiedMatching -OMIM:606828 NAGK skos:exactMatch ncbigene:55577 semapv:UnspecifiedMatching -OMIM:606829 FXN skos:exactMatch hgnc.symbol:3951 semapv:UnspecifiedMatching -OMIM:606829 FXN skos:exactMatch hgnc.symbol:FXN semapv:UnspecifiedMatching -OMIM:606829 FXN skos:exactMatch ncbigene:2395 semapv:UnspecifiedMatching -OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:17258 semapv:UnspecifiedMatching -OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:AGTPBP1 semapv:UnspecifiedMatching -OMIM:606830 AGTPBP1 skos:exactMatch ncbigene:23287 semapv:UnspecifiedMatching -OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:16412 semapv:UnspecifiedMatching -OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:NLRC4 semapv:UnspecifiedMatching -OMIM:606831 NLRC4 skos:exactMatch ncbigene:58484 semapv:UnspecifiedMatching -OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:18173 semapv:UnspecifiedMatching -OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:ERAP1 semapv:UnspecifiedMatching -OMIM:606832 ERAP1 skos:exactMatch ncbigene:51752 semapv:UnspecifiedMatching -OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:13726 semapv:UnspecifiedMatching -OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:KMT2C semapv:UnspecifiedMatching -OMIM:606833 KMT2C skos:exactMatch ncbigene:58508 semapv:UnspecifiedMatching -OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:15840 semapv:UnspecifiedMatching -OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:KMT2B semapv:UnspecifiedMatching -OMIM:606834 KMT2B skos:exactMatch ncbigene:9757 semapv:UnspecifiedMatching -OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:4205 semapv:UnspecifiedMatching -OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:GCNT3 semapv:UnspecifiedMatching -OMIM:606836 GCNT3 skos:exactMatch ncbigene:9245 semapv:UnspecifiedMatching -OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:15574 semapv:UnspecifiedMatching -OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:RB1CC1 semapv:UnspecifiedMatching -OMIM:606837 RB1CC1 skos:exactMatch ncbigene:9821 semapv:UnspecifiedMatching -OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:16608 semapv:UnspecifiedMatching -OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:PYCARD semapv:UnspecifiedMatching -OMIM:606838 PYCARD skos:exactMatch ncbigene:29108 semapv:UnspecifiedMatching -OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:7521 semapv:UnspecifiedMatching -OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:CDHR5 semapv:UnspecifiedMatching -OMIM:606839 CDHR5 skos:exactMatch ncbigene:53841 semapv:UnspecifiedMatching -OMIM:606841 DEDD skos:exactMatch hgnc.symbol:2755 semapv:UnspecifiedMatching -OMIM:606841 DEDD skos:exactMatch hgnc.symbol:DEDD semapv:UnspecifiedMatching -OMIM:606841 DEDD skos:exactMatch ncbigene:9191 semapv:UnspecifiedMatching -OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:428 semapv:UnspecifiedMatching -OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:ALMS1 semapv:UnspecifiedMatching -OMIM:606844 ALMS1 skos:exactMatch ncbigene:7840 semapv:UnspecifiedMatching -OMIM:606845 GOPC skos:exactMatch hgnc.symbol:17643 semapv:UnspecifiedMatching -OMIM:606845 GOPC skos:exactMatch hgnc.symbol:GOPC semapv:UnspecifiedMatching -OMIM:606845 GOPC skos:exactMatch ncbigene:57120 semapv:UnspecifiedMatching -OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:20986 semapv:UnspecifiedMatching -OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:SMYD1 semapv:UnspecifiedMatching -OMIM:606846 SMYD1 skos:exactMatch ncbigene:150572 semapv:UnspecifiedMatching -OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:11654 semapv:UnspecifiedMatching -OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:TCOF1 semapv:UnspecifiedMatching -OMIM:606847 TCOF1 skos:exactMatch ncbigene:6949 semapv:UnspecifiedMatching -OMIM:606848 NEK7 skos:exactMatch UMLS:C1421968 semapv:UnspecifiedMatching -OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:13386 semapv:UnspecifiedMatching -OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:NEK7 semapv:UnspecifiedMatching -OMIM:606848 NEK7 skos:exactMatch ncbigene:140609 semapv:UnspecifiedMatching -OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:13736 semapv:UnspecifiedMatching -OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:UBL5 semapv:UnspecifiedMatching -OMIM:606849 UBL5 skos:exactMatch ncbigene:59286 semapv:UnspecifiedMatching -OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:21460 semapv:UnspecifiedMatching -OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:MIPOL1 semapv:UnspecifiedMatching -OMIM:606850 MIPOL1 skos:exactMatch ncbigene:145282 semapv:UnspecifiedMatching -OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:862 semapv:UnspecifiedMatching -OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:ATP6V1G2 semapv:UnspecifiedMatching -OMIM:606853 ATP6V1G2 skos:exactMatch ncbigene:534 semapv:UnspecifiedMatching -OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:17135 semapv:UnspecifiedMatching -OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:RLN3 semapv:UnspecifiedMatching -OMIM:606855 RLN3 skos:exactMatch ncbigene:117579 semapv:UnspecifiedMatching -OMIM:606857 GCLC skos:exactMatch hgnc.symbol:4311 semapv:UnspecifiedMatching -OMIM:606857 GCLC skos:exactMatch hgnc.symbol:GCLC semapv:UnspecifiedMatching -OMIM:606857 GCLC skos:exactMatch ncbigene:2729 semapv:UnspecifiedMatching -OMIM:606860 C1NH skos:exactMatch hgnc.symbol:1228 semapv:UnspecifiedMatching -OMIM:606860 C1NH skos:exactMatch hgnc.symbol:SERPING1 semapv:UnspecifiedMatching -OMIM:606860 C1NH skos:exactMatch ncbigene:710 semapv:UnspecifiedMatching -OMIM:606861 PATE skos:exactMatch hgnc.symbol:24664 semapv:UnspecifiedMatching -OMIM:606861 PATE skos:exactMatch hgnc.symbol:PATE1 semapv:UnspecifiedMatching -OMIM:606861 PATE skos:exactMatch ncbigene:160065 semapv:UnspecifiedMatching -OMIM:606862 OSCAR skos:exactMatch UMLS:C1847321 semapv:UnspecifiedMatching -OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:29960 semapv:UnspecifiedMatching -OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:OSCAR semapv:UnspecifiedMatching -OMIM:606862 OSCAR skos:exactMatch ncbigene:126014 semapv:UnspecifiedMatching -OMIM:606863 TOX skos:exactMatch UMLS:C1847320 semapv:UnspecifiedMatching -OMIM:606863 TOX skos:exactMatch hgnc.symbol:18988 semapv:UnspecifiedMatching -OMIM:606863 TOX skos:exactMatch hgnc.symbol:TOX semapv:UnspecifiedMatching -OMIM:606863 TOX skos:exactMatch ncbigene:9760 semapv:UnspecifiedMatching -OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:4020 semapv:UnspecifiedMatching -OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:FUT9 semapv:UnspecifiedMatching -OMIM:606865 FUT9 skos:exactMatch ncbigene:10690 semapv:UnspecifiedMatching -OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:1176 semapv:UnspecifiedMatching -OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:MRPL49 semapv:UnspecifiedMatching -OMIM:606866 MRPL49 skos:exactMatch ncbigene:740 semapv:UnspecifiedMatching -OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:16769 semapv:UnspecifiedMatching -OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:GORASP1 semapv:UnspecifiedMatching -OMIM:606867 GORASP1 skos:exactMatch ncbigene:64689 semapv:UnspecifiedMatching -OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:14402 semapv:UnspecifiedMatching -OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:HIPK2 semapv:UnspecifiedMatching -OMIM:606868 HIPK2 skos:exactMatch ncbigene:28996 semapv:UnspecifiedMatching -OMIM:606869 HEXA skos:exactMatch hgnc.symbol:4878 semapv:UnspecifiedMatching -OMIM:606869 HEXA skos:exactMatch hgnc.symbol:HEXA semapv:UnspecifiedMatching -OMIM:606869 HEXA skos:exactMatch ncbigene:3073 semapv:UnspecifiedMatching -OMIM:606870 JAM2 skos:exactMatch UMLS:C1422840 semapv:UnspecifiedMatching -OMIM:606870 JAM2 skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching -OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:14686 semapv:UnspecifiedMatching -OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:JAM2 semapv:UnspecifiedMatching -OMIM:606870 JAM2 skos:exactMatch ncbigene:58494 semapv:UnspecifiedMatching -OMIM:606871 JAM3 skos:exactMatch UMLS:C1423559 semapv:UnspecifiedMatching -OMIM:606871 JAM3 skos:exactMatch UMLS:C3151000 semapv:UnspecifiedMatching -OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:15532 semapv:UnspecifiedMatching -OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:JAM3 semapv:UnspecifiedMatching -OMIM:606871 JAM3 skos:exactMatch ncbigene:83700 semapv:UnspecifiedMatching -OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:21225 semapv:UnspecifiedMatching -OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:CBLL1 semapv:UnspecifiedMatching -OMIM:606872 CBLL1 skos:exactMatch ncbigene:79872 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C0751489 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C0751490 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C1415523 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C1849320 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C1849321 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C1849322 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4016989 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4310842 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4310887 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch UMLS:C4310888 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch hgnc.symbol:4879 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch hgnc.symbol:HEXB semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch ncbigene:3074 semapv:UnspecifiedMatching -OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:9002 semapv:UnspecifiedMatching -OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:PITPNB semapv:UnspecifiedMatching -OMIM:606876 PITPNB skos:exactMatch ncbigene:23760 semapv:UnspecifiedMatching -OMIM:606877 ANP32C skos:exactMatch hgnc.symbol:ANP32CP semapv:UnspecifiedMatching -OMIM:606877 ANP32C skos:exactMatch ncbigene:23520 semapv:UnspecifiedMatching -OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:16676 semapv:UnspecifiedMatching -OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:ANP32D semapv:UnspecifiedMatching -OMIM:606878 ANP32D skos:exactMatch ncbigene:23519 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch UMLS:C1418531 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch UMLS:C4551478 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:8923 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:PHGDH semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch ncbigene:26227 semapv:UnspecifiedMatching -OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:1510 semapv:UnspecifiedMatching -OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:CASP8AP2 semapv:UnspecifiedMatching -OMIM:606880 CASP8AP2 skos:exactMatch ncbigene:9994 semapv:UnspecifiedMatching -OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:17905 semapv:UnspecifiedMatching -OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:FHOD1 semapv:UnspecifiedMatching -OMIM:606881 FHOD1 skos:exactMatch ncbigene:29109 semapv:UnspecifiedMatching -OMIM:606882 ATP7B skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching -OMIM:606882 ATP7B skos:exactMatch UMLS:C1412689 semapv:UnspecifiedMatching -OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:870 semapv:UnspecifiedMatching -OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:ATP7B semapv:UnspecifiedMatching -OMIM:606882 ATP7B skos:exactMatch ncbigene:540 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch UMLS:C1334137 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:17967 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:IRAK4 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch ncbigene:51135 semapv:UnspecifiedMatching -OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:9902 semapv:UnspecifiedMatching -OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:RBM5 semapv:UnspecifiedMatching -OMIM:606884 RBM5 skos:exactMatch ncbigene:10181 semapv:UnspecifiedMatching -OMIM:606885 ACADS skos:exactMatch hgnc.symbol:90 semapv:UnspecifiedMatching -OMIM:606885 ACADS skos:exactMatch hgnc.symbol:ACADS semapv:UnspecifiedMatching -OMIM:606885 ACADS skos:exactMatch ncbigene:35 semapv:UnspecifiedMatching -OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:9903 semapv:UnspecifiedMatching -OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:RBM6 semapv:UnspecifiedMatching -OMIM:606886 RBM6 skos:exactMatch ncbigene:10180 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch UMLS:C1420521 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch hgnc.symbol:11460 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch hgnc.symbol:SUOX semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch ncbigene:6821 semapv:UnspecifiedMatching -OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:15963 semapv:UnspecifiedMatching -OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:CHRNA6 semapv:UnspecifiedMatching -OMIM:606888 CHRNA6 skos:exactMatch ncbigene:8973 semapv:UnspecifiedMatching -OMIM:606890 GALC skos:exactMatch hgnc.symbol:4115 semapv:UnspecifiedMatching -OMIM:606890 GALC skos:exactMatch hgnc.symbol:GALC semapv:UnspecifiedMatching -OMIM:606890 GALC skos:exactMatch ncbigene:2581 semapv:UnspecifiedMatching -OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:18504 semapv:UnspecifiedMatching -OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:FCRLA semapv:UnspecifiedMatching -OMIM:606891 FCRLA skos:exactMatch ncbigene:84824 semapv:UnspecifiedMatching -OMIM:606892 STX12 skos:exactMatch hgnc.symbol:11430 semapv:UnspecifiedMatching -OMIM:606892 STX12 skos:exactMatch hgnc.symbol:STX12 semapv:UnspecifiedMatching -OMIM:606892 STX12 skos:exactMatch ncbigene:23673 semapv:UnspecifiedMatching -OMIM:606897 LYST skos:exactMatch hgnc.symbol:1968 semapv:UnspecifiedMatching -OMIM:606897 LYST skos:exactMatch hgnc.symbol:LYST semapv:UnspecifiedMatching -OMIM:606897 LYST skos:exactMatch ncbigene:1130 semapv:UnspecifiedMatching -OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:13625 semapv:UnspecifiedMatching -OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:CACNG6 semapv:UnspecifiedMatching -OMIM:606898 CACNG6 skos:exactMatch ncbigene:59285 semapv:UnspecifiedMatching -OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:13626 semapv:UnspecifiedMatching -OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:CACNG7 semapv:UnspecifiedMatching -OMIM:606899 CACNG7 skos:exactMatch ncbigene:59284 semapv:UnspecifiedMatching -OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:13628 semapv:UnspecifiedMatching -OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:CACNG8 semapv:UnspecifiedMatching -OMIM:606900 CACNG8 skos:exactMatch ncbigene:59283 semapv:UnspecifiedMatching -OMIM:606902 PYGO1 skos:exactMatch UMLS:C1538758 semapv:UnspecifiedMatching -OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:30256 semapv:UnspecifiedMatching -OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:PYGO1 semapv:UnspecifiedMatching -OMIM:606902 PYGO1 skos:exactMatch ncbigene:26108 semapv:UnspecifiedMatching -OMIM:606903 PYGO2 skos:exactMatch UMLS:C1538759 semapv:UnspecifiedMatching -OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:30257 semapv:UnspecifiedMatching -OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:PYGO2 semapv:UnspecifiedMatching -OMIM:606903 PYGO2 skos:exactMatch ncbigene:90780 semapv:UnspecifiedMatching -OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:32594 semapv:UnspecifiedMatching -OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:PREX1 semapv:UnspecifiedMatching -OMIM:606905 PREX1 skos:exactMatch ncbigene:57580 semapv:UnspecifiedMatching -OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:16352 semapv:UnspecifiedMatching -OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:MRM2 semapv:UnspecifiedMatching -OMIM:606906 MRM2 skos:exactMatch ncbigene:29960 semapv:UnspecifiedMatching -OMIM:606907 APOM skos:exactMatch hgnc.symbol:13916 semapv:UnspecifiedMatching -OMIM:606907 APOM skos:exactMatch hgnc.symbol:APOM semapv:UnspecifiedMatching -OMIM:606907 APOM skos:exactMatch ncbigene:55937 semapv:UnspecifiedMatching -OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:13504 semapv:UnspecifiedMatching -OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:ARFGAP2 semapv:UnspecifiedMatching -OMIM:606908 ARFGAP2 skos:exactMatch ncbigene:84364 semapv:UnspecifiedMatching -OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:12645 semapv:UnspecifiedMatching -OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:VAMP4 semapv:UnspecifiedMatching -OMIM:606909 VAMP4 skos:exactMatch ncbigene:8674 semapv:UnspecifiedMatching -OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:993 semapv:UnspecifiedMatching -OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:BCL2L10 semapv:UnspecifiedMatching -OMIM:606910 BCL2L10 skos:exactMatch ncbigene:10017 semapv:UnspecifiedMatching -OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:10563 semapv:UnspecifiedMatching -OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:SCAMP1 semapv:UnspecifiedMatching -OMIM:606911 SCAMP1 skos:exactMatch ncbigene:9522 semapv:UnspecifiedMatching -OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:10564 semapv:UnspecifiedMatching -OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:SCAMP2 semapv:UnspecifiedMatching -OMIM:606912 SCAMP2 skos:exactMatch ncbigene:10066 semapv:UnspecifiedMatching -OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:10565 semapv:UnspecifiedMatching -OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:SCAMP3 semapv:UnspecifiedMatching -OMIM:606913 SCAMP3 skos:exactMatch ncbigene:10067 semapv:UnspecifiedMatching -OMIM:606914 PKIB skos:exactMatch hgnc.symbol:9018 semapv:UnspecifiedMatching -OMIM:606914 PKIB skos:exactMatch hgnc.symbol:PKIB semapv:UnspecifiedMatching -OMIM:606914 PKIB skos:exactMatch ncbigene:5570 semapv:UnspecifiedMatching -OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:13302 semapv:UnspecifiedMatching -OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:GPR63 semapv:UnspecifiedMatching -OMIM:606915 GPR63 skos:exactMatch ncbigene:81491 semapv:UnspecifiedMatching -OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:13300 semapv:UnspecifiedMatching -OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:GPR61 semapv:UnspecifiedMatching -OMIM:606916 GPR61 skos:exactMatch ncbigene:83873 semapv:UnspecifiedMatching -OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:13301 semapv:UnspecifiedMatching -OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:GPR62 semapv:UnspecifiedMatching -OMIM:606917 GPR62 skos:exactMatch ncbigene:118442 semapv:UnspecifiedMatching -OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:4428 semapv:UnspecifiedMatching -OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:GOLGA5 semapv:UnspecifiedMatching -OMIM:606918 GOLGA5 skos:exactMatch ncbigene:9950 semapv:UnspecifiedMatching -OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:14253 semapv:UnspecifiedMatching -OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:CERS1 semapv:UnspecifiedMatching -OMIM:606919 CERS1 skos:exactMatch ncbigene:10715 semapv:UnspecifiedMatching -OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:14076 semapv:UnspecifiedMatching -OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:CERS2 semapv:UnspecifiedMatching -OMIM:606920 CERS2 skos:exactMatch ncbigene:29956 semapv:UnspecifiedMatching -OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:4528 semapv:UnspecifiedMatching -OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:GPR78 semapv:UnspecifiedMatching -OMIM:606921 GPR78 skos:exactMatch ncbigene:27201 semapv:UnspecifiedMatching -OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:4531 semapv:UnspecifiedMatching -OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:OXGR1 semapv:UnspecifiedMatching -OMIM:606922 OXGR1 skos:exactMatch ncbigene:27199 semapv:UnspecifiedMatching -OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:4532 semapv:UnspecifiedMatching -OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:HCAR1 semapv:UnspecifiedMatching -OMIM:606923 HCAR1 skos:exactMatch ncbigene:27198 semapv:UnspecifiedMatching -OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:15565 semapv:UnspecifiedMatching -OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:QRFPR semapv:UnspecifiedMatching -OMIM:606925 QRFPR skos:exactMatch ncbigene:84109 semapv:UnspecifiedMatching -OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:13307 semapv:UnspecifiedMatching -OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:LPAR5 semapv:UnspecifiedMatching -OMIM:606926 LPAR5 skos:exactMatch ncbigene:57121 semapv:UnspecifiedMatching -OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:14964 semapv:UnspecifiedMatching -OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:TAAR8 semapv:UnspecifiedMatching -OMIM:606927 TAAR8 skos:exactMatch ncbigene:83551 semapv:UnspecifiedMatching -OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:19072 semapv:UnspecifiedMatching -OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:THOC3 semapv:UnspecifiedMatching -OMIM:606929 THOC3 skos:exactMatch ncbigene:84321 semapv:UnspecifiedMatching -OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:19070 semapv:UnspecifiedMatching -OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:THOC1 semapv:UnspecifiedMatching -OMIM:606930 THOC1 skos:exactMatch ncbigene:9984 semapv:UnspecifiedMatching -OMIM:606932 VPS29 skos:exactMatch UMLS:C1422577 semapv:UnspecifiedMatching -OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:14340 semapv:UnspecifiedMatching -OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:VPS29 semapv:UnspecifiedMatching -OMIM:606932 VPS29 skos:exactMatch ncbigene:51699 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C1421250 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C1847132 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C2677190 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C3149136 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C4225528 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch UMLS:C4551504 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch hgnc.symbol:12442 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch hgnc.symbol:TYR semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch ncbigene:7299 semapv:UnspecifiedMatching -OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:18828 semapv:UnspecifiedMatching -OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:NDUFAF1 semapv:UnspecifiedMatching -OMIM:606934 NDUFAF1 skos:exactMatch ncbigene:51103 semapv:UnspecifiedMatching -OMIM:606935 RBM17 skos:exactMatch hgnc.symbol:16944 semapv:UnspecifiedMatching -OMIM:606935 RBM17 skos:exactMatch hgnc.symbol:RBM17 semapv:UnspecifiedMatching -OMIM:606935 RBM17 skos:exactMatch ncbigene:84991 semapv:UnspecifiedMatching -OMIM:606936 TRPM4 skos:exactMatch hgnc.symbol:17993 semapv:UnspecifiedMatching -OMIM:606936 TRPM4 skos:exactMatch hgnc.symbol:TRPM4 semapv:UnspecifiedMatching -OMIM:606936 TRPM4 skos:exactMatch ncbigene:54795 semapv:UnspecifiedMatching -OMIM:606938 UROS skos:exactMatch hgnc.symbol:12592 semapv:UnspecifiedMatching -OMIM:606938 UROS skos:exactMatch hgnc.symbol:UROS semapv:UnspecifiedMatching -OMIM:606938 UROS skos:exactMatch ncbigene:7390 semapv:UnspecifiedMatching -OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:854 semapv:UnspecifiedMatching -OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:ATP6V1B2 semapv:UnspecifiedMatching -OMIM:606939 ATP6V1B2 skos:exactMatch ncbigene:526 semapv:UnspecifiedMatching -OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:30939 semapv:UnspecifiedMatching -OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:ZFHX4 semapv:UnspecifiedMatching -OMIM:606940 ZFHX4 skos:exactMatch ncbigene:79776 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch UMLS:C1538263 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch UMLS:C1849762 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch UMLS:C2931006 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:15672 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:ALG9 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch ncbigene:79796 semapv:UnspecifiedMatching -OMIM:606942 COPE skos:exactMatch hgnc.symbol:2234 semapv:UnspecifiedMatching -OMIM:606942 COPE skos:exactMatch hgnc.symbol:COPE semapv:UnspecifiedMatching -OMIM:606942 COPE skos:exactMatch ncbigene:11316 semapv:UnspecifiedMatching -OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:15842 semapv:UnspecifiedMatching -OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:ERBIN semapv:UnspecifiedMatching -OMIM:606944 ERBIN skos:exactMatch ncbigene:55914 semapv:UnspecifiedMatching -OMIM:606945 LDLR skos:exactMatch hgnc.symbol:6547 semapv:UnspecifiedMatching -OMIM:606945 LDLR skos:exactMatch hgnc.symbol:LDLR semapv:UnspecifiedMatching -OMIM:606945 LDLR skos:exactMatch ncbigene:3949 semapv:UnspecifiedMatching -OMIM:606946 ANAPC2 skos:exactMatch UMLS:C1426586 semapv:UnspecifiedMatching -OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:19989 semapv:UnspecifiedMatching -OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:ANAPC2 semapv:UnspecifiedMatching -OMIM:606946 ANAPC2 skos:exactMatch ncbigene:29882 semapv:UnspecifiedMatching -OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:19990 semapv:UnspecifiedMatching -OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:ANAPC4 semapv:UnspecifiedMatching -OMIM:606947 ANAPC4 skos:exactMatch ncbigene:29945 semapv:UnspecifiedMatching -OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:15713 semapv:UnspecifiedMatching -OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:ANAPC5 semapv:UnspecifiedMatching -OMIM:606948 ANAPC5 skos:exactMatch ncbigene:51433 semapv:UnspecifiedMatching -OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:17380 semapv:UnspecifiedMatching -OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:ANAPC7 semapv:UnspecifiedMatching -OMIM:606949 ANAPC7 skos:exactMatch ncbigene:51434 semapv:UnspecifiedMatching -OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:30748 semapv:UnspecifiedMatching -OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:TRHDE semapv:UnspecifiedMatching -OMIM:606950 TRHDE skos:exactMatch ncbigene:29953 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch UMLS:C1537399 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch UMLS:C3888244 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch UMLS:C4225427 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:18873 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:IFIH1 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch ncbigene:64135 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352731 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:79434 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch UMLS:C1439333 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch UMLS:C4017048 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch hgnc.symbol:4116 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch hgnc.symbol:GALE semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch ncbigene:2582 semapv:UnspecifiedMatching -OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:13497 semapv:UnspecifiedMatching -OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:ZNF253 semapv:UnspecifiedMatching -OMIM:606954 ZNF253 skos:exactMatch ncbigene:56242 semapv:UnspecifiedMatching -OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:13049 semapv:UnspecifiedMatching -OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:ZNF256 semapv:UnspecifiedMatching -OMIM:606956 ZNF256 skos:exactMatch ncbigene:10172 semapv:UnspecifiedMatching -OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:13498 semapv:UnspecifiedMatching -OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:ZNF257 semapv:UnspecifiedMatching -OMIM:606957 ZNF257 skos:exactMatch ncbigene:113835 semapv:UnspecifiedMatching -OMIM:606958 PALS1 skos:exactMatch hgnc.symbol:18669 semapv:UnspecifiedMatching -OMIM:606958 PALS1 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching -OMIM:606958 PALS1 skos:exactMatch ncbigene:64398 semapv:UnspecifiedMatching -OMIM:606959 PALS2 skos:exactMatch hgnc.symbol:18167 semapv:UnspecifiedMatching -OMIM:606959 PALS2 skos:exactMatch hgnc.symbol:PALS2 semapv:UnspecifiedMatching -OMIM:606959 PALS2 skos:exactMatch ncbigene:51678 semapv:UnspecifiedMatching -OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:12737 semapv:UnspecifiedMatching -OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:WBP1 semapv:UnspecifiedMatching -OMIM:606961 WBP1 skos:exactMatch ncbigene:23559 semapv:UnspecifiedMatching -OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:12738 semapv:UnspecifiedMatching -OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:WBP2 semapv:UnspecifiedMatching -OMIM:606962 WBP2 skos:exactMatch ncbigene:23558 semapv:UnspecifiedMatching -OMIM:606964 STK38 skos:exactMatch hgnc.symbol:17847 semapv:UnspecifiedMatching -OMIM:606964 STK38 skos:exactMatch hgnc.symbol:STK38 semapv:UnspecifiedMatching -OMIM:606964 STK38 skos:exactMatch ncbigene:11329 semapv:UnspecifiedMatching -OMIM:606965 FASTK skos:exactMatch hgnc.symbol:24676 semapv:UnspecifiedMatching -OMIM:606965 FASTK skos:exactMatch hgnc.symbol:FASTK semapv:UnspecifiedMatching -OMIM:606965 FASTK skos:exactMatch ncbigene:10922 semapv:UnspecifiedMatching -OMIM:606967 LCAT skos:exactMatch hgnc.symbol:6522 semapv:UnspecifiedMatching -OMIM:606967 LCAT skos:exactMatch hgnc.symbol:LCAT semapv:UnspecifiedMatching -OMIM:606967 LCAT skos:exactMatch ncbigene:3931 semapv:UnspecifiedMatching -OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:24615 semapv:UnspecifiedMatching -OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:EEF2K semapv:UnspecifiedMatching -OMIM:606968 EEF2K skos:exactMatch ncbigene:29904 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch UMLS:C1423680 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:15717 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:GEMIN4 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch ncbigene:50628 semapv:UnspecifiedMatching -OMIM:606973 COG1 skos:exactMatch hgnc.symbol:6545 semapv:UnspecifiedMatching -OMIM:606973 COG1 skos:exactMatch hgnc.symbol:COG1 semapv:UnspecifiedMatching -OMIM:606973 COG1 skos:exactMatch ncbigene:9382 semapv:UnspecifiedMatching -OMIM:606974 COG2 skos:exactMatch hgnc.symbol:6546 semapv:UnspecifiedMatching -OMIM:606974 COG2 skos:exactMatch hgnc.symbol:COG2 semapv:UnspecifiedMatching -OMIM:606974 COG2 skos:exactMatch ncbigene:22796 semapv:UnspecifiedMatching -OMIM:606975 COG3 skos:exactMatch hgnc.symbol:18619 semapv:UnspecifiedMatching -OMIM:606975 COG3 skos:exactMatch hgnc.symbol:COG3 semapv:UnspecifiedMatching -OMIM:606975 COG3 skos:exactMatch ncbigene:83548 semapv:UnspecifiedMatching -OMIM:606976 COG4 skos:exactMatch hgnc.symbol:18620 semapv:UnspecifiedMatching -OMIM:606976 COG4 skos:exactMatch hgnc.symbol:COG4 semapv:UnspecifiedMatching -OMIM:606976 COG4 skos:exactMatch ncbigene:25839 semapv:UnspecifiedMatching -OMIM:606977 COG6 skos:exactMatch hgnc.symbol:18621 semapv:UnspecifiedMatching -OMIM:606977 COG6 skos:exactMatch hgnc.symbol:COG6 semapv:UnspecifiedMatching -OMIM:606977 COG6 skos:exactMatch ncbigene:57511 semapv:UnspecifiedMatching -OMIM:606978 COG7 skos:exactMatch hgnc.symbol:18622 semapv:UnspecifiedMatching -OMIM:606978 COG7 skos:exactMatch hgnc.symbol:COG7 semapv:UnspecifiedMatching -OMIM:606978 COG7 skos:exactMatch ncbigene:91949 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch UMLS:C1425655 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch hgnc.symbol:18623 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch hgnc.symbol:COG8 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch ncbigene:84342 semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch UMLS:C1424564 semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:16812 semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:COQ8A semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch ncbigene:56997 semapv:UnspecifiedMatching -OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:4404 semapv:UnspecifiedMatching -OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:GNG2 semapv:UnspecifiedMatching -OMIM:606981 GNG2 skos:exactMatch ncbigene:54331 semapv:UnspecifiedMatching -OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:4249 semapv:UnspecifiedMatching -OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:GGPS1 semapv:UnspecifiedMatching -OMIM:606982 GGPS1 skos:exactMatch ncbigene:9453 semapv:UnspecifiedMatching -OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:16940 semapv:UnspecifiedMatching -OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:DGAT2 semapv:UnspecifiedMatching -OMIM:606983 DGAT2 skos:exactMatch ncbigene:84649 semapv:UnspecifiedMatching -OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:1171 semapv:UnspecifiedMatching -OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:ELP4 semapv:UnspecifiedMatching -OMIM:606985 ELP4 skos:exactMatch ncbigene:26610 semapv:UnspecifiedMatching -OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:17031 semapv:UnspecifiedMatching -OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:GRK7 semapv:UnspecifiedMatching -OMIM:606987 GRK7 skos:exactMatch ncbigene:131890 semapv:UnspecifiedMatching -OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:17433 semapv:UnspecifiedMatching -OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:CHP1 semapv:UnspecifiedMatching -OMIM:606988 CHP1 skos:exactMatch ncbigene:11261 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C1417245 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch UMLS:C1969821 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch hgnc.symbol:7218 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch hgnc.symbol:MPO semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch ncbigene:4353 semapv:UnspecifiedMatching -OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:2232 semapv:UnspecifiedMatching -OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:COPB2 semapv:UnspecifiedMatching -OMIM:606990 COPB2 skos:exactMatch ncbigene:9276 semapv:UnspecifiedMatching -OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:18360 semapv:UnspecifiedMatching -OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:IP6K1 semapv:UnspecifiedMatching -OMIM:606991 IP6K1 skos:exactMatch ncbigene:9807 semapv:UnspecifiedMatching -OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:17313 semapv:UnspecifiedMatching -OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:IP6K2 semapv:UnspecifiedMatching -OMIM:606992 IP6K2 skos:exactMatch ncbigene:51447 semapv:UnspecifiedMatching -OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:17269 semapv:UnspecifiedMatching -OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:IP6K3 semapv:UnspecifiedMatching -OMIM:606993 IP6K3 skos:exactMatch ncbigene:117283 semapv:UnspecifiedMatching -OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:19297 semapv:UnspecifiedMatching -OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:TNK2 semapv:UnspecifiedMatching -OMIM:606994 TNK2 skos:exactMatch ncbigene:10188 semapv:UnspecifiedMatching -OMIM:606997 C1D skos:exactMatch hgnc.symbol:29911 semapv:UnspecifiedMatching -OMIM:606997 C1D skos:exactMatch hgnc.symbol:C1D semapv:UnspecifiedMatching -OMIM:606997 C1D skos:exactMatch ncbigene:10438 semapv:UnspecifiedMatching -OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:3757 semapv:UnspecifiedMatching -OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:FLOT1 semapv:UnspecifiedMatching -OMIM:606998 FLOT1 skos:exactMatch ncbigene:10211 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C1414962 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C3278146 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C4017050 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C4017051 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch UMLS:C4017052 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch hgnc.symbol:4135 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch hgnc.symbol:GALT semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch ncbigene:2592 semapv:UnspecifiedMatching -OMIM:607000 MED24 skos:exactMatch UMLS:C1427816 semapv:UnspecifiedMatching -OMIM:607000 MED24 skos:exactMatch hgnc.symbol:22963 semapv:UnspecifiedMatching -OMIM:607000 MED24 skos:exactMatch hgnc.symbol:MED24 semapv:UnspecifiedMatching -OMIM:607000 MED24 skos:exactMatch ncbigene:9862 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch UMLS:C0795833 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch UMLS:C1539338 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:24650 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:EHMT1 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch ncbigene:79813 semapv:UnspecifiedMatching -OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:18455 semapv:UnspecifiedMatching -OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:PROK2 semapv:UnspecifiedMatching -OMIM:607002 PROK2 skos:exactMatch ncbigene:60675 semapv:UnspecifiedMatching -OMIM:607003 TSLP skos:exactMatch hgnc.symbol:30743 semapv:UnspecifiedMatching -OMIM:607003 TSLP skos:exactMatch hgnc.symbol:TSLP semapv:UnspecifiedMatching -OMIM:607003 TSLP skos:exactMatch ncbigene:85480 semapv:UnspecifiedMatching -OMIM:607005 GEMIN5 skos:exactMatch UMLS:C1426633 semapv:UnspecifiedMatching -OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:20043 semapv:UnspecifiedMatching -OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:GEMIN5 semapv:UnspecifiedMatching -OMIM:607005 GEMIN5 skos:exactMatch ncbigene:25929 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch UMLS:C1426634 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:20044 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:GEMIN6 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch ncbigene:79833 semapv:UnspecifiedMatching -OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:17145 semapv:UnspecifiedMatching -OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:SNAPIN semapv:UnspecifiedMatching -OMIM:607007 SNAPIN skos:exactMatch ncbigene:23557 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch UMLS:C0220710 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch UMLS:C1412107 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch UMLS:C4017054 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch hgnc.symbol:89 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch hgnc.symbol:ACADM semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch ncbigene:34 semapv:UnspecifiedMatching -OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:17995 semapv:UnspecifiedMatching -OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:TRPM6 semapv:UnspecifiedMatching -OMIM:607009 TRPM6 skos:exactMatch ncbigene:140803 semapv:UnspecifiedMatching -OMIM:607010 DCP1A skos:exactMatch UMLS:C1539225 semapv:UnspecifiedMatching -OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:18714 semapv:UnspecifiedMatching -OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:DCP1A semapv:UnspecifiedMatching -OMIM:607010 DCP1A skos:exactMatch ncbigene:55802 semapv:UnspecifiedMatching -OMIM:607011 USP17 skos:exactMatch hgnc.symbol:12615 semapv:UnspecifiedMatching -OMIM:607011 USP17 skos:exactMatch hgnc.symbol:USP17L9P semapv:UnspecifiedMatching -OMIM:607011 USP17 skos:exactMatch ncbigene:391627 semapv:UnspecifiedMatching -OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:13652 semapv:UnspecifiedMatching -OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:BDP1 semapv:UnspecifiedMatching -OMIM:607012 BDP1 skos:exactMatch ncbigene:55814 semapv:UnspecifiedMatching -OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:17298 semapv:UnspecifiedMatching -OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:BRF2 semapv:UnspecifiedMatching -OMIM:607013 BRF2 skos:exactMatch ncbigene:55290 semapv:UnspecifiedMatching -OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:18582 semapv:UnspecifiedMatching -OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:ADGRL2 semapv:UnspecifiedMatching -OMIM:607018 ADGRL2 skos:exactMatch ncbigene:23266 semapv:UnspecifiedMatching -OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:14271 semapv:UnspecifiedMatching -OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:RASSF3 semapv:UnspecifiedMatching -OMIM:607019 RASSF3 skos:exactMatch ncbigene:283349 semapv:UnspecifiedMatching -OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:17609 semapv:UnspecifiedMatching -OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:RASSF5 semapv:UnspecifiedMatching -OMIM:607020 RASSF5 skos:exactMatch ncbigene:83593 semapv:UnspecifiedMatching -OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:10763 semapv:UnspecifiedMatching -OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:SEZ6L semapv:UnspecifiedMatching -OMIM:607021 SEZ6L skos:exactMatch ncbigene:23544 semapv:UnspecifiedMatching -OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:16234 semapv:UnspecifiedMatching -OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:CTCFL semapv:UnspecifiedMatching -OMIM:607022 CTCFL skos:exactMatch ncbigene:140690 semapv:UnspecifiedMatching -OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:19699 semapv:UnspecifiedMatching -OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:PLK2 semapv:UnspecifiedMatching -OMIM:607023 PLK2 skos:exactMatch ncbigene:10769 semapv:UnspecifiedMatching -OMIM:607024 DBR1 skos:exactMatch UMLS:C1423603 semapv:UnspecifiedMatching -OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:15594 semapv:UnspecifiedMatching -OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:DBR1 semapv:UnspecifiedMatching -OMIM:607024 DBR1 skos:exactMatch ncbigene:51163 semapv:UnspecifiedMatching -OMIM:607025 MELK skos:exactMatch hgnc.symbol:16870 semapv:UnspecifiedMatching -OMIM:607025 MELK skos:exactMatch hgnc.symbol:MELK semapv:UnspecifiedMatching -OMIM:607025 MELK skos:exactMatch ncbigene:9833 semapv:UnspecifiedMatching -OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:15997 semapv:UnspecifiedMatching -OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:NAV2 semapv:UnspecifiedMatching -OMIM:607026 NAV2 skos:exactMatch ncbigene:89797 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch UMLS:C1412672 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4693934 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:851 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:ATP6V1A semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch ncbigene:523 semapv:UnspecifiedMatching -OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:13724 semapv:UnspecifiedMatching -OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:ATP6V0D1 semapv:UnspecifiedMatching -OMIM:607028 ATP6V0D1 skos:exactMatch ncbigene:9114 semapv:UnspecifiedMatching -OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:12646 semapv:UnspecifiedMatching -OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:VAMP5 semapv:UnspecifiedMatching -OMIM:607029 VAMP5 skos:exactMatch ncbigene:10791 semapv:UnspecifiedMatching -OMIM:607030 GCA skos:exactMatch hgnc.symbol:15990 semapv:UnspecifiedMatching -OMIM:607030 GCA skos:exactMatch hgnc.symbol:GCA semapv:UnspecifiedMatching -OMIM:607030 GCA skos:exactMatch ncbigene:25801 semapv:UnspecifiedMatching -OMIM:607031 LIAS skos:exactMatch hgnc.symbol:16429 semapv:UnspecifiedMatching -OMIM:607031 LIAS skos:exactMatch hgnc.symbol:LIAS semapv:UnspecifiedMatching -OMIM:607031 LIAS skos:exactMatch ncbigene:11019 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch UMLS:C1846919 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:30045 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:SMG1 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch ncbigene:23049 semapv:UnspecifiedMatching -OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:17037 semapv:UnspecifiedMatching -OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:TFB1M semapv:UnspecifiedMatching -OMIM:607033 TFB1M skos:exactMatch ncbigene:51106 semapv:UnspecifiedMatching -OMIM:607035 SUFU skos:exactMatch hgnc.symbol:16466 semapv:UnspecifiedMatching -OMIM:607035 SUFU skos:exactMatch hgnc.symbol:SUFU semapv:UnspecifiedMatching -OMIM:607035 SUFU skos:exactMatch ncbigene:51684 semapv:UnspecifiedMatching -OMIM:607036 IVD skos:exactMatch hgnc.symbol:6186 semapv:UnspecifiedMatching -OMIM:607036 IVD skos:exactMatch hgnc.symbol:IVD semapv:UnspecifiedMatching -OMIM:607036 IVD skos:exactMatch ncbigene:3712 semapv:UnspecifiedMatching -OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:3247 semapv:UnspecifiedMatching -OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:EHHADH semapv:UnspecifiedMatching -OMIM:607037 EHHADH skos:exactMatch ncbigene:1962 semapv:UnspecifiedMatching -OMIM:607038 OTOA skos:exactMatch hgnc.symbol:16378 semapv:UnspecifiedMatching -OMIM:607038 OTOA skos:exactMatch hgnc.symbol:OTOA semapv:UnspecifiedMatching -OMIM:607038 OTOA skos:exactMatch ncbigene:146183 semapv:UnspecifiedMatching -OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:14639 semapv:UnspecifiedMatching -OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:ABCC11 semapv:UnspecifiedMatching -OMIM:607040 ABCC11 skos:exactMatch ncbigene:85320 semapv:UnspecifiedMatching -OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:14640 semapv:UnspecifiedMatching -OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:ABCC12 semapv:UnspecifiedMatching -OMIM:607041 ABCC12 skos:exactMatch ncbigene:94160 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch UMLS:C1413495 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch UMLS:C4017059 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:2074 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:CLN3 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch ncbigene:1201 semapv:UnspecifiedMatching -OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:1343 semapv:UnspecifiedMatching -OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:TRAF3IP2 semapv:UnspecifiedMatching -OMIM:607043 TRAF3IP2 skos:exactMatch ncbigene:10758 semapv:UnspecifiedMatching -OMIM:607045 RMST skos:exactMatch hgnc.symbol:29893 semapv:UnspecifiedMatching -OMIM:607045 RMST skos:exactMatch hgnc.symbol:RMST semapv:UnspecifiedMatching -OMIM:607045 RMST skos:exactMatch ncbigene:196475 semapv:UnspecifiedMatching -OMIM:607046 TOMM22 skos:exactMatch UMLS:C1425230 semapv:UnspecifiedMatching -OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:18002 semapv:UnspecifiedMatching -OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:TOMM22 semapv:UnspecifiedMatching -OMIM:607046 TOMM22 skos:exactMatch ncbigene:56993 semapv:UnspecifiedMatching -OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:7106 semapv:UnspecifiedMatching -OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:ATXN3 semapv:UnspecifiedMatching -OMIM:607047 ATXN3 skos:exactMatch ncbigene:4287 semapv:UnspecifiedMatching -OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:17579 semapv:UnspecifiedMatching -OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:STARD3 semapv:UnspecifiedMatching -OMIM:607048 STARD3 skos:exactMatch ncbigene:10948 semapv:UnspecifiedMatching -OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:18058 semapv:UnspecifiedMatching -OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:STARD4 semapv:UnspecifiedMatching -OMIM:607049 STARD4 skos:exactMatch ncbigene:134429 semapv:UnspecifiedMatching -OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:18065 semapv:UnspecifiedMatching -OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:STARD5 semapv:UnspecifiedMatching -OMIM:607050 STARD5 skos:exactMatch ncbigene:80765 semapv:UnspecifiedMatching -OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:18066 semapv:UnspecifiedMatching -OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:STARD6 semapv:UnspecifiedMatching -OMIM:607051 STARD6 skos:exactMatch ncbigene:147323 semapv:UnspecifiedMatching -OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:17034 semapv:UnspecifiedMatching -OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:TUSC2 semapv:UnspecifiedMatching -OMIM:607052 TUSC2 skos:exactMatch ncbigene:11334 semapv:UnspecifiedMatching -OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:8934 semapv:UnspecifiedMatching -OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:PHLDA3 semapv:UnspecifiedMatching -OMIM:607054 PHLDA3 skos:exactMatch ncbigene:23612 semapv:UnspecifiedMatching -OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:18559 semapv:UnspecifiedMatching -OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:TFB2M semapv:UnspecifiedMatching -OMIM:607055 TFB2M skos:exactMatch ncbigene:64216 semapv:UnspecifiedMatching -OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:18362 semapv:UnspecifiedMatching -OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:IMPG2 semapv:UnspecifiedMatching -OMIM:607056 IMPG2 skos:exactMatch ncbigene:50939 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch UMLS:C1421395 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch hgnc.symbol:12616 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch hgnc.symbol:USP18 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch ncbigene:11274 semapv:UnspecifiedMatching -OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:19154 semapv:UnspecifiedMatching -OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:GJD2 semapv:UnspecifiedMatching -OMIM:607058 GJD2 skos:exactMatch ncbigene:57369 semapv:UnspecifiedMatching -OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:17129 semapv:UnspecifiedMatching -OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:SLC39A4 semapv:UnspecifiedMatching -OMIM:607059 SLC39A4 skos:exactMatch ncbigene:55630 semapv:UnspecifiedMatching -OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:16049 semapv:UnspecifiedMatching -OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:PTGES3 semapv:UnspecifiedMatching -OMIM:607061 PTGES3 skos:exactMatch ncbigene:10728 semapv:UnspecifiedMatching -OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:3723 semapv:UnspecifiedMatching -OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:FKBP7 semapv:UnspecifiedMatching -OMIM:607062 FKBP7 skos:exactMatch ncbigene:51661 semapv:UnspecifiedMatching -OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:18169 semapv:UnspecifiedMatching -OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:FKBP10 semapv:UnspecifiedMatching -OMIM:607063 FKBP10 skos:exactMatch ncbigene:60681 semapv:UnspecifiedMatching -OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:8739 semapv:UnspecifiedMatching -OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:PCOLCE2 semapv:UnspecifiedMatching -OMIM:607064 PCOLCE2 skos:exactMatch ncbigene:26577 semapv:UnspecifiedMatching -OMIM:607065 QPCT skos:exactMatch hgnc.symbol:9753 semapv:UnspecifiedMatching -OMIM:607065 QPCT skos:exactMatch hgnc.symbol:QPCT semapv:UnspecifiedMatching -OMIM:607065 QPCT skos:exactMatch ncbigene:25797 semapv:UnspecifiedMatching -OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:18084 semapv:UnspecifiedMatching -OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:TRPV3 semapv:UnspecifiedMatching -OMIM:607066 TRPV3 skos:exactMatch ncbigene:162514 semapv:UnspecifiedMatching -OMIM:607067 STH skos:exactMatch hgnc.symbol:18839 semapv:UnspecifiedMatching -OMIM:607067 STH skos:exactMatch hgnc.symbol:STH semapv:UnspecifiedMatching -OMIM:607067 STH skos:exactMatch ncbigene:246744 semapv:UnspecifiedMatching -OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:30253 semapv:UnspecifiedMatching -OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:CYB561D2 semapv:UnspecifiedMatching -OMIM:607068 CYB561D2 skos:exactMatch ncbigene:11068 semapv:UnspecifiedMatching -OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:30055 semapv:UnspecifiedMatching -OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:TMEM115 semapv:UnspecifiedMatching -OMIM:607069 TMEM115 skos:exactMatch ncbigene:11070 semapv:UnspecifiedMatching -OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:19412 semapv:UnspecifiedMatching -OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:ZMYND10 semapv:UnspecifiedMatching -OMIM:607070 ZMYND10 skos:exactMatch ncbigene:51364 semapv:UnspecifiedMatching -OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:5320 semapv:UnspecifiedMatching -OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:HYAL1 semapv:UnspecifiedMatching -OMIM:607071 HYAL1 skos:exactMatch ncbigene:3373 semapv:UnspecifiedMatching -OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:24969 semapv:UnspecifiedMatching -OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:NPRL2 semapv:UnspecifiedMatching -OMIM:607072 NPRL2 skos:exactMatch ncbigene:10641 semapv:UnspecifiedMatching -OMIM:607073 NAA80 skos:exactMatch UMLS:C1538043 semapv:UnspecifiedMatching -OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:30252 semapv:UnspecifiedMatching -OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:NAA80 semapv:UnspecifiedMatching -OMIM:607073 NAA80 skos:exactMatch ncbigene:24142 semapv:UnspecifiedMatching -OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:17293 semapv:UnspecifiedMatching -OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:PRKD2 semapv:UnspecifiedMatching -OMIM:607074 PRKD2 skos:exactMatch ncbigene:25865 semapv:UnspecifiedMatching -OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:14634 semapv:UnspecifiedMatching -OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:PDAP1 semapv:UnspecifiedMatching -OMIM:607075 PDAP1 skos:exactMatch ncbigene:11333 semapv:UnspecifiedMatching -OMIM:607076 PI15 skos:exactMatch hgnc.symbol:8946 semapv:UnspecifiedMatching -OMIM:607076 PI15 skos:exactMatch hgnc.symbol:PI15 semapv:UnspecifiedMatching -OMIM:607076 PI15 skos:exactMatch ncbigene:51050 semapv:UnspecifiedMatching -OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:9408 semapv:UnspecifiedMatching -OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:PRKD3 semapv:UnspecifiedMatching -OMIM:607077 PRKCN skos:exactMatch ncbigene:23683 semapv:UnspecifiedMatching -OMIM:607079 RHBG skos:exactMatch hgnc.symbol:14572 semapv:UnspecifiedMatching -OMIM:607079 RHBG skos:exactMatch hgnc.symbol:RHBG semapv:UnspecifiedMatching -OMIM:607079 RHBG skos:exactMatch ncbigene:57127 semapv:UnspecifiedMatching -OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch Orphanet:168563 semapv:UnspecifiedMatching -OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching -OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:30683 semapv:UnspecifiedMatching -OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:TAPBPL semapv:UnspecifiedMatching -OMIM:607081 TAPBPL skos:exactMatch ncbigene:55080 semapv:UnspecifiedMatching -OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:1400 semapv:UnspecifiedMatching -OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:CACNA2D2 semapv:UnspecifiedMatching -OMIM:607082 CACNA2D2 skos:exactMatch ncbigene:9254 semapv:UnspecifiedMatching -OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:12767 semapv:UnspecifiedMatching -OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:NSD3 semapv:UnspecifiedMatching -OMIM:607083 NSD3 skos:exactMatch ncbigene:54904 semapv:UnspecifiedMatching -OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:1587 semapv:UnspecifiedMatching -OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:CCNDBP1 semapv:UnspecifiedMatching -OMIM:607089 CCNDBP1 skos:exactMatch ncbigene:23582 semapv:UnspecifiedMatching -OMIM:607090 SYF2 skos:exactMatch UMLS:C1823161 semapv:UnspecifiedMatching -OMIM:607090 SYF2 skos:exactMatch hgnc.symbol:19824 semapv:UnspecifiedMatching -OMIM:607090 SYF2 skos:exactMatch hgnc.symbol:SYF2 semapv:UnspecifiedMatching -OMIM:607090 SYF2 skos:exactMatch ncbigene:25949 semapv:UnspecifiedMatching -OMIM:607092 SPHK2 skos:exactMatch hgnc.symbol:18859 semapv:UnspecifiedMatching -OMIM:607092 SPHK2 skos:exactMatch hgnc.symbol:SPHK2 semapv:UnspecifiedMatching -OMIM:607092 SPHK2 skos:exactMatch ncbigene:56848 semapv:UnspecifiedMatching -OMIM:607093 MTHFR skos:exactMatch hgnc.symbol:7436 semapv:UnspecifiedMatching -OMIM:607093 MTHFR skos:exactMatch hgnc.symbol:MTHFR semapv:UnspecifiedMatching -OMIM:607093 MTHFR skos:exactMatch ncbigene:4524 semapv:UnspecifiedMatching -OMIM:607094 SOCS5 skos:exactMatch hgnc.symbol:16852 semapv:UnspecifiedMatching -OMIM:607094 SOCS5 skos:exactMatch hgnc.symbol:SOCS5 semapv:UnspecifiedMatching -OMIM:607094 SOCS5 skos:exactMatch ncbigene:9655 semapv:UnspecifiedMatching -OMIM:607095 anauxetic dysplasia 1 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching -OMIM:607095 anauxetic dysplasia 1 skos:exactMatch UMLS:C1846796 semapv:UnspecifiedMatching -OMIM:607095 anauxetic dysplasia 1 skos:exactMatch UMLS:C4551965 semapv:UnspecifiedMatching -OMIM:607096 SLC22A12 skos:exactMatch hgnc.symbol:17989 semapv:UnspecifiedMatching -OMIM:607096 SLC22A12 skos:exactMatch hgnc.symbol:SLC22A12 semapv:UnspecifiedMatching -OMIM:607096 SLC22A12 skos:exactMatch ncbigene:116085 semapv:UnspecifiedMatching -OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:18120 semapv:UnspecifiedMatching -OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:SLC22A11 semapv:UnspecifiedMatching -OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch ncbigene:55867 semapv:UnspecifiedMatching -OMIM:607098 enolase alpha, lung-specific skos:exactMatch UMLS:C1846791 semapv:UnspecifiedMatching -OMIM:607099 HINFP skos:exactMatch hgnc.symbol:17850 semapv:UnspecifiedMatching -OMIM:607099 HINFP skos:exactMatch hgnc.symbol:HINFP semapv:UnspecifiedMatching -OMIM:607099 HINFP skos:exactMatch ncbigene:25988 semapv:UnspecifiedMatching -OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:7905 semapv:UnspecifiedMatching -OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:NPHP1 semapv:UnspecifiedMatching -OMIM:607100 NPHP1 skos:exactMatch ncbigene:4867 semapv:UnspecifiedMatching -OMIM:607102 WT1 skos:exactMatch hgnc.symbol:12796 semapv:UnspecifiedMatching -OMIM:607102 WT1 skos:exactMatch hgnc.symbol:WT1 semapv:UnspecifiedMatching -OMIM:607102 WT1 skos:exactMatch ncbigene:7490 semapv:UnspecifiedMatching -OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:782 semapv:UnspecifiedMatching -OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:ATE1 semapv:UnspecifiedMatching -OMIM:607103 ATE1 skos:exactMatch ncbigene:11101 semapv:UnspecifiedMatching -OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:19081 semapv:UnspecifiedMatching -OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:TNKS1BP1 semapv:UnspecifiedMatching -OMIM:607104 TNKS1BP1 skos:exactMatch ncbigene:85456 semapv:UnspecifiedMatching -OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:7890 semapv:UnspecifiedMatching -OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:NOX3 semapv:UnspecifiedMatching -OMIM:607105 NOX3 skos:exactMatch ncbigene:50508 semapv:UnspecifiedMatching -OMIM:607106 HM13 skos:exactMatch hgnc.symbol:16435 semapv:UnspecifiedMatching -OMIM:607106 HM13 skos:exactMatch hgnc.symbol:HM13 semapv:UnspecifiedMatching -OMIM:607106 HM13 skos:exactMatch ncbigene:81502 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C0155299 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C1418276 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C1833797 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C1833798 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C3554721 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C3805349 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C3805604 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017065 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017066 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017067 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017070 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4017657 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4310841 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch UMLS:C4310884 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:8620 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:PAX6 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch ncbigene:5080 semapv:UnspecifiedMatching -OMIM:607109 APOBEC3A skos:exactMatch UMLS:C1424917 semapv:UnspecifiedMatching -OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:17343 semapv:UnspecifiedMatching -OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:APOBEC3A semapv:UnspecifiedMatching -OMIM:607109 APOBEC3A skos:exactMatch ncbigene:200315 semapv:UnspecifiedMatching -OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:17352 semapv:UnspecifiedMatching -OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:APOBEC3B semapv:UnspecifiedMatching -OMIM:607110 APOBEC3B skos:exactMatch ncbigene:9582 semapv:UnspecifiedMatching -OMIM:607111 SPART skos:exactMatch hgnc.symbol:18514 semapv:UnspecifiedMatching -OMIM:607111 SPART skos:exactMatch hgnc.symbol:SPART semapv:UnspecifiedMatching -OMIM:607111 SPART skos:exactMatch ncbigene:23111 semapv:UnspecifiedMatching -OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:13581 semapv:UnspecifiedMatching -OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:FBXO2 semapv:UnspecifiedMatching -OMIM:607112 FBXO2 skos:exactMatch ncbigene:26232 semapv:UnspecifiedMatching -OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:17357 semapv:UnspecifiedMatching -OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:APOBEC3G semapv:UnspecifiedMatching -OMIM:607113 APOBEC3G skos:exactMatch ncbigene:60489 semapv:UnspecifiedMatching -OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:15478 semapv:UnspecifiedMatching -OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:ADAM33 semapv:UnspecifiedMatching -OMIM:607114 ADAM33 skos:exactMatch ncbigene:80332 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch UMLS:C1417075 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:6954 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:MCPH1 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch ncbigene:79648 semapv:UnspecifiedMatching -OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:10379 semapv:UnspecifiedMatching -OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:MRPL3 semapv:UnspecifiedMatching -OMIM:607118 MRPL3 skos:exactMatch ncbigene:11222 semapv:UnspecifiedMatching -OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:13432 semapv:UnspecifiedMatching -OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:RNF19A semapv:UnspecifiedMatching -OMIM:607119 RNF19A skos:exactMatch ncbigene:25897 semapv:UnspecifiedMatching -OMIM:607120 PLCB1 skos:exactMatch UMLS:C1423830 semapv:UnspecifiedMatching -OMIM:607120 PLCB1 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching -OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:15917 semapv:UnspecifiedMatching -OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:PLCB1 semapv:UnspecifiedMatching -OMIM:607120 PLCB1 skos:exactMatch ncbigene:23236 semapv:UnspecifiedMatching -OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:4524 semapv:UnspecifiedMatching -OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:PROKR1 semapv:UnspecifiedMatching -OMIM:607122 PROKR1 skos:exactMatch ncbigene:10887 semapv:UnspecifiedMatching -OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:15836 semapv:UnspecifiedMatching -OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:PROKR2 semapv:UnspecifiedMatching -OMIM:607123 PROKR2 skos:exactMatch ncbigene:128674 semapv:UnspecifiedMatching -OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:9228 semapv:UnspecifiedMatching -OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:PLPP1 semapv:UnspecifiedMatching -OMIM:607124 PLPP1 skos:exactMatch ncbigene:8611 semapv:UnspecifiedMatching -OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:9229 semapv:UnspecifiedMatching -OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:PLPP3 semapv:UnspecifiedMatching -OMIM:607125 PLPP3 skos:exactMatch ncbigene:8613 semapv:UnspecifiedMatching -OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:9230 semapv:UnspecifiedMatching -OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:PLPP2 semapv:UnspecifiedMatching -OMIM:607126 PLPP2 skos:exactMatch ncbigene:8612 semapv:UnspecifiedMatching -OMIM:607127 ERC1 skos:exactMatch hgnc.symbol:17072 semapv:UnspecifiedMatching -OMIM:607127 ERC1 skos:exactMatch hgnc.symbol:ERC1 semapv:UnspecifiedMatching -OMIM:607127 ERC1 skos:exactMatch ncbigene:23085 semapv:UnspecifiedMatching -OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:15677 semapv:UnspecifiedMatching -OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:TNKS2 semapv:UnspecifiedMatching -OMIM:607128 TNKS2 skos:exactMatch ncbigene:80351 semapv:UnspecifiedMatching -OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:20619 semapv:UnspecifiedMatching -OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:MICAL1 semapv:UnspecifiedMatching -OMIM:607129 MICAL1 skos:exactMatch ncbigene:64780 semapv:UnspecifiedMatching -OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:30287 semapv:UnspecifiedMatching -OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:RPTOR semapv:UnspecifiedMatching -OMIM:607130 RPTOR skos:exactMatch ncbigene:57521 semapv:UnspecifiedMatching -OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch Orphanet:166024 semapv:UnspecifiedMatching -OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching -OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching -OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching -OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:5037 semapv:UnspecifiedMatching -OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:HNRNPDL semapv:UnspecifiedMatching -OMIM:607137 HNRNPDL skos:exactMatch ncbigene:9987 semapv:UnspecifiedMatching -OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:18854 semapv:UnspecifiedMatching -OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:CREB3L4 semapv:UnspecifiedMatching -OMIM:607138 CREB3L4 skos:exactMatch ncbigene:148327 semapv:UnspecifiedMatching -OMIM:607139 FANCA skos:exactMatch hgnc.symbol:3582 semapv:UnspecifiedMatching -OMIM:607139 FANCA skos:exactMatch hgnc.symbol:FANCA semapv:UnspecifiedMatching -OMIM:607139 FANCA skos:exactMatch ncbigene:2175 semapv:UnspecifiedMatching -OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:18007 semapv:UnspecifiedMatching -OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:GLIPR2 semapv:UnspecifiedMatching -OMIM:607141 GLIPR2 skos:exactMatch ncbigene:152007 semapv:UnspecifiedMatching -OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch Orphanet:79324 semapv:UnspecifiedMatching -OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch UMLS:C1426190 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:19358 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:ALG12 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch ncbigene:79087 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch UMLS:C1424906 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch UMLS:C3279756 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:17328 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:DTNBP1 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch ncbigene:84062 semapv:UnspecifiedMatching -OMIM:607146 PDZD3 skos:exactMatch hgnc.symbol:NHERF4 semapv:UnspecifiedMatching -OMIM:607146 PDZD3 skos:exactMatch ncbigene:79849 semapv:UnspecifiedMatching -OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:17664 semapv:UnspecifiedMatching -OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:NECTIN3 semapv:UnspecifiedMatching -OMIM:607147 NECTIN3 skos:exactMatch ncbigene:25945 semapv:UnspecifiedMatching -OMIM:607149 REXO2 skos:exactMatch UMLS:C1846690 semapv:UnspecifiedMatching -OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:17851 semapv:UnspecifiedMatching -OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:REXO2 semapv:UnspecifiedMatching -OMIM:607149 REXO2 skos:exactMatch ncbigene:25996 semapv:UnspecifiedMatching -OMIM:607150 FEV skos:exactMatch hgnc.symbol:18562 semapv:UnspecifiedMatching -OMIM:607150 FEV skos:exactMatch hgnc.symbol:FEV semapv:UnspecifiedMatching -OMIM:607150 FEV skos:exactMatch ncbigene:54738 semapv:UnspecifiedMatching -OMIM:607151 moyamoya disease 2 skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching -OMIM:607151 moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching -OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:23927 semapv:UnspecifiedMatching -OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:ITGB1BP1 semapv:UnspecifiedMatching -OMIM:607153 ITGB1BP1 skos:exactMatch ncbigene:9270 semapv:UnspecifiedMatching -OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch Orphanet:34515 semapv:UnspecifiedMatching -OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching -OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:18080 semapv:UnspecifiedMatching -OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:ST3GAL6 semapv:UnspecifiedMatching -OMIM:607156 ST3GAL6 skos:exactMatch ncbigene:10402 semapv:UnspecifiedMatching -OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:15622 semapv:UnspecifiedMatching -OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:SIGLEC11 semapv:UnspecifiedMatching -OMIM:607157 SIGLEC11 skos:exactMatch ncbigene:114132 semapv:UnspecifiedMatching -OMIM:607158 VENTX skos:exactMatch hgnc.symbol:13639 semapv:UnspecifiedMatching -OMIM:607158 VENTX skos:exactMatch hgnc.symbol:VENTX semapv:UnspecifiedMatching -OMIM:607158 VENTX skos:exactMatch ncbigene:27287 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C1823956 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:16493 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:ZMIZ1 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch ncbigene:57178 semapv:UnspecifiedMatching -OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:16832 semapv:UnspecifiedMatching -OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:ATP6V1F semapv:UnspecifiedMatching -OMIM:607160 ATP6V1F skos:exactMatch ncbigene:9296 semapv:UnspecifiedMatching -OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:17827 semapv:UnspecifiedMatching -OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:ST8SIA5 semapv:UnspecifiedMatching -OMIM:607162 ST8SIA5 skos:exactMatch ncbigene:29906 semapv:UnspecifiedMatching -OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:13869 semapv:UnspecifiedMatching -OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:LOXL3 semapv:UnspecifiedMatching -OMIM:607163 LOXL3 skos:exactMatch ncbigene:84695 semapv:UnspecifiedMatching -OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:15525 semapv:UnspecifiedMatching -OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:LBX2 semapv:UnspecifiedMatching -OMIM:607164 LBX2 skos:exactMatch ncbigene:85474 semapv:UnspecifiedMatching -OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:11699 semapv:UnspecifiedMatching -OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:SERINC3 semapv:UnspecifiedMatching -OMIM:607165 SERINC3 skos:exactMatch ncbigene:10955 semapv:UnspecifiedMatching -OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:14927 semapv:UnspecifiedMatching -OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:TSGA10 semapv:UnspecifiedMatching -OMIM:607166 TSGA10 skos:exactMatch ncbigene:80705 semapv:UnspecifiedMatching -OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:15468 semapv:UnspecifiedMatching -OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:DYNLRB1 semapv:UnspecifiedMatching -OMIM:607167 DYNLRB1 skos:exactMatch ncbigene:83658 semapv:UnspecifiedMatching -OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:15467 semapv:UnspecifiedMatching -OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:DYNLRB2 semapv:UnspecifiedMatching -OMIM:607168 DYNLRB2 skos:exactMatch ncbigene:83657 semapv:UnspecifiedMatching -OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:9480 semapv:UnspecifiedMatching -OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:PRSS16 semapv:UnspecifiedMatching -OMIM:607169 PRSS16 skos:exactMatch ncbigene:10279 semapv:UnspecifiedMatching -OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:14630 semapv:UnspecifiedMatching -OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:CRELD1 semapv:UnspecifiedMatching -OMIM:607170 CRELD1 skos:exactMatch ncbigene:78987 semapv:UnspecifiedMatching -OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:28150 semapv:UnspecifiedMatching -OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:CRELD2 semapv:UnspecifiedMatching -OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch ncbigene:79174 semapv:UnspecifiedMatching -OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:19184 semapv:UnspecifiedMatching -OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:STK11IP semapv:UnspecifiedMatching -OMIM:607172 STK11IP skos:exactMatch ncbigene:114790 semapv:UnspecifiedMatching -OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:16889 semapv:UnspecifiedMatching -OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:PSMD14 semapv:UnspecifiedMatching -OMIM:607173 PSMD14 skos:exactMatch ncbigene:10213 semapv:UnspecifiedMatching -OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:17909 semapv:UnspecifiedMatching -OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:DUSP16 semapv:UnspecifiedMatching -OMIM:607175 DUSP16 skos:exactMatch ncbigene:80824 semapv:UnspecifiedMatching -OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:13248 semapv:UnspecifiedMatching -OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:CALN1 semapv:UnspecifiedMatching -OMIM:607176 CALN1 skos:exactMatch ncbigene:83698 semapv:UnspecifiedMatching -OMIM:607177 IER5 skos:exactMatch hgnc.symbol:5393 semapv:UnspecifiedMatching -OMIM:607177 IER5 skos:exactMatch hgnc.symbol:IER5 semapv:UnspecifiedMatching -OMIM:607177 IER5 skos:exactMatch ncbigene:51278 semapv:UnspecifiedMatching -OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:16887 semapv:UnspecifiedMatching -OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:PDZK1IP1 semapv:UnspecifiedMatching -OMIM:607178 PDZK1IP1 skos:exactMatch ncbigene:10158 semapv:UnspecifiedMatching -OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:9898 semapv:UnspecifiedMatching -OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:RBM12 semapv:UnspecifiedMatching -OMIM:607179 RBM12 skos:exactMatch ncbigene:10137 semapv:UnspecifiedMatching -OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:14676 semapv:UnspecifiedMatching -OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:LRRC2 semapv:UnspecifiedMatching -OMIM:607180 LRRC2 skos:exactMatch ncbigene:79442 semapv:UnspecifiedMatching -OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:15572 semapv:UnspecifiedMatching -OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:RTP3 semapv:UnspecifiedMatching -OMIM:607181 RTP3 skos:exactMatch ncbigene:83597 semapv:UnspecifiedMatching -OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:14673 semapv:UnspecifiedMatching -OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:FYCO1 semapv:UnspecifiedMatching -OMIM:607182 FYCO1 skos:exactMatch ncbigene:79443 semapv:UnspecifiedMatching -OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:10703 semapv:UnspecifiedMatching -OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:SEC24A semapv:UnspecifiedMatching -OMIM:607183 SEC24A skos:exactMatch ncbigene:10802 semapv:UnspecifiedMatching -OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:10704 semapv:UnspecifiedMatching -OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:SEC24B semapv:UnspecifiedMatching -OMIM:607184 SEC24B skos:exactMatch ncbigene:10427 semapv:UnspecifiedMatching -OMIM:607185 SEC24C skos:exactMatch UMLS:C1419929 semapv:UnspecifiedMatching -OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:10705 semapv:UnspecifiedMatching -OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:SEC24C semapv:UnspecifiedMatching -OMIM:607185 SEC24C skos:exactMatch ncbigene:9632 semapv:UnspecifiedMatching -OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:10706 semapv:UnspecifiedMatching -OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:SEC24D semapv:UnspecifiedMatching -OMIM:607186 SEC24D skos:exactMatch ncbigene:9871 semapv:UnspecifiedMatching -OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:10862 semapv:UnspecifiedMatching -OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:ST3GAL1 semapv:UnspecifiedMatching -OMIM:607187 ST3GAL1 skos:exactMatch ncbigene:6482 semapv:UnspecifiedMatching -OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:10863 semapv:UnspecifiedMatching -OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:ST3GAL2 semapv:UnspecifiedMatching -OMIM:607188 ST3GAL2 skos:exactMatch ncbigene:6483 semapv:UnspecifiedMatching -OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:16810 semapv:UnspecifiedMatching -OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:RGS8 semapv:UnspecifiedMatching -OMIM:607189 RGS8 skos:exactMatch ncbigene:85397 semapv:UnspecifiedMatching -OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:9995 semapv:UnspecifiedMatching -OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:RGS13 semapv:UnspecifiedMatching -OMIM:607190 RGS13 skos:exactMatch ncbigene:6003 semapv:UnspecifiedMatching -OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:14088 semapv:UnspecifiedMatching -OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:RGS17 semapv:UnspecifiedMatching -OMIM:607191 RGS17 skos:exactMatch ncbigene:26575 semapv:UnspecifiedMatching -OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:14261 semapv:UnspecifiedMatching -OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:RGS18 semapv:UnspecifiedMatching -OMIM:607192 RGS18 skos:exactMatch ncbigene:64407 semapv:UnspecifiedMatching -OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:14600 semapv:UnspecifiedMatching -OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:RGS20 semapv:UnspecifiedMatching -OMIM:607193 RGS20 skos:exactMatch ncbigene:8601 semapv:UnspecifiedMatching -OMIM:607194 PTF1A skos:exactMatch UMLS:C1428235 semapv:UnspecifiedMatching -OMIM:607194 PTF1A skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching -OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:23734 semapv:UnspecifiedMatching -OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:PTF1A semapv:UnspecifiedMatching -OMIM:607194 PTF1A skos:exactMatch ncbigene:256297 semapv:UnspecifiedMatching -OMIM:607196 microcephaly, amish iia skos:exactMatch Orphanet:99742 semapv:UnspecifiedMatching -OMIM:607196 microcephaly, amish iia skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching -OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:18884 semapv:UnspecifiedMatching -OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:TDP1 semapv:UnspecifiedMatching -OMIM:607198 TDP1 skos:exactMatch ncbigene:55775 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch UMLS:C1416474 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch UMLS:C4551864 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:6121 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:IRF6 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch ncbigene:3664 semapv:UnspecifiedMatching -OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:5047 semapv:UnspecifiedMatching -OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:HNRNPR semapv:UnspecifiedMatching -OMIM:607201 HNRNPR skos:exactMatch ncbigene:10236 semapv:UnspecifiedMatching -OMIM:607203 SAV1 skos:exactMatch UMLS:C1425082 semapv:UnspecifiedMatching -OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:17795 semapv:UnspecifiedMatching -OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:SAV1 semapv:UnspecifiedMatching -OMIM:607203 SAV1 skos:exactMatch ncbigene:60485 semapv:UnspecifiedMatching -OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:14957 semapv:UnspecifiedMatching -OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:PUM1 semapv:UnspecifiedMatching -OMIM:607204 PUM1 skos:exactMatch ncbigene:9698 semapv:UnspecifiedMatching -OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:14958 semapv:UnspecifiedMatching -OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:PUM2 semapv:UnspecifiedMatching -OMIM:607205 PUM2 skos:exactMatch ncbigene:23369 semapv:UnspecifiedMatching -OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:13743 semapv:UnspecifiedMatching -OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:ALOXE3 semapv:UnspecifiedMatching -OMIM:607206 ALOXE3 skos:exactMatch ncbigene:59344 semapv:UnspecifiedMatching -OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:11427 semapv:UnspecifiedMatching -OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:STUB1 semapv:UnspecifiedMatching -OMIM:607207 STUB1 skos:exactMatch ncbigene:10273 semapv:UnspecifiedMatching -OMIM:607208 dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching -OMIM:607208 dravet syndrome skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching -OMIM:607209 CARD10 skos:exactMatch UMLS:C1424267 semapv:UnspecifiedMatching -OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:16422 semapv:UnspecifiedMatching -OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:CARD10 semapv:UnspecifiedMatching -OMIM:607209 CARD10 skos:exactMatch ncbigene:29775 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C1424244 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C4539957 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C4540578 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch UMLS:C4551967 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:16393 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:CARD11 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch ncbigene:84433 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch UMLS:C0032027 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch UMLS:C1424286 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch UMLS:C1864497 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch UMLS:C4017074 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:16446 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:CARD14 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch ncbigene:79092 semapv:UnspecifiedMatching -OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:16391 semapv:UnspecifiedMatching -OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:CARD9 semapv:UnspecifiedMatching -OMIM:607212 CARD9 skos:exactMatch ncbigene:64170 semapv:UnspecifiedMatching -OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:17151 semapv:UnspecifiedMatching -OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:ORC6 semapv:UnspecifiedMatching -OMIM:607213 ORC6 skos:exactMatch ncbigene:23594 semapv:UnspecifiedMatching -OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:19104 semapv:UnspecifiedMatching -OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:NPHP4 semapv:UnspecifiedMatching -OMIM:607215 NPHP4 skos:exactMatch ncbigene:261734 semapv:UnspecifiedMatching -OMIM:607216 SDK1 skos:exactMatch UMLS:C1426154 semapv:UnspecifiedMatching -OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:19307 semapv:UnspecifiedMatching -OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:SDK1 semapv:UnspecifiedMatching -OMIM:607216 SDK1 skos:exactMatch ncbigene:221935 semapv:UnspecifiedMatching -OMIM:607217 SDK2 skos:exactMatch UMLS:C1426155 semapv:UnspecifiedMatching -OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:19308 semapv:UnspecifiedMatching -OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:SDK2 semapv:UnspecifiedMatching -OMIM:607217 SDK2 skos:exactMatch ncbigene:54549 semapv:UnspecifiedMatching -OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:6120 semapv:UnspecifiedMatching -OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:IRF5 semapv:UnspecifiedMatching -OMIM:607218 IRF5 skos:exactMatch ncbigene:3663 semapv:UnspecifiedMatching -OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:2175 semapv:UnspecifiedMatching -OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:CNTN5 semapv:UnspecifiedMatching -OMIM:607219 CNTN5 skos:exactMatch ncbigene:53942 semapv:UnspecifiedMatching -OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:2176 semapv:UnspecifiedMatching -OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:CNTN6 semapv:UnspecifiedMatching -OMIM:607220 CNTN6 skos:exactMatch ncbigene:27255 semapv:UnspecifiedMatching -OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:13620 semapv:UnspecifiedMatching -OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:FBH1 semapv:UnspecifiedMatching -OMIM:607222 FBXO18 skos:exactMatch ncbigene:84893 semapv:UnspecifiedMatching -OMIM:607223 SMOC2 skos:exactMatch hgnc.symbol:20323 semapv:UnspecifiedMatching -OMIM:607223 SMOC2 skos:exactMatch hgnc.symbol:SMOC2 semapv:UnspecifiedMatching -OMIM:607223 SMOC2 skos:exactMatch ncbigene:64094 semapv:UnspecifiedMatching -OMIM:607224 ORAOV1 skos:exactMatch hgnc.symbol:17589 semapv:UnspecifiedMatching -OMIM:607224 ORAOV1 skos:exactMatch hgnc.symbol:LTO1 semapv:UnspecifiedMatching -OMIM:607224 ORAOV1 skos:exactMatch ncbigene:220064 semapv:UnspecifiedMatching -OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch Orphanet:293168 semapv:UnspecifiedMatching -OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching -OMIM:607226 HDAC11 skos:exactMatch UMLS:C1426002 semapv:UnspecifiedMatching -OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:19086 semapv:UnspecifiedMatching -OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:HDAC11 semapv:UnspecifiedMatching -OMIM:607226 HDAC11 skos:exactMatch ncbigene:79885 semapv:UnspecifiedMatching -OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:17962 semapv:UnspecifiedMatching -OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:MRGPRX1 semapv:UnspecifiedMatching -OMIM:607227 MRGPRX1 skos:exactMatch ncbigene:259249 semapv:UnspecifiedMatching -OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:17983 semapv:UnspecifiedMatching -OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:MRGPRX2 semapv:UnspecifiedMatching -OMIM:607228 MRGPRX2 skos:exactMatch ncbigene:117194 semapv:UnspecifiedMatching -OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:17980 semapv:UnspecifiedMatching -OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:MRGPRX3 semapv:UnspecifiedMatching -OMIM:607229 MRGPRX3 skos:exactMatch ncbigene:117195 semapv:UnspecifiedMatching -OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:17617 semapv:UnspecifiedMatching -OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:MRGPRX4 semapv:UnspecifiedMatching -OMIM:607230 MRGPRX4 skos:exactMatch ncbigene:117196 semapv:UnspecifiedMatching -OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:29626 semapv:UnspecifiedMatching -OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:MRGPRD semapv:UnspecifiedMatching -OMIM:607231 MRGPRD skos:exactMatch ncbigene:116512 semapv:UnspecifiedMatching -OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:30694 semapv:UnspecifiedMatching -OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:MRGPRE semapv:UnspecifiedMatching -OMIM:607232 MRGPRE skos:exactMatch ncbigene:116534 semapv:UnspecifiedMatching -OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:24828 semapv:UnspecifiedMatching -OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:MRGPRF semapv:UnspecifiedMatching -OMIM:607233 MRGPRF skos:exactMatch ncbigene:116535 semapv:UnspecifiedMatching -OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:24829 semapv:UnspecifiedMatching -OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:MRGPRG semapv:UnspecifiedMatching -OMIM:607234 MRGPRG skos:exactMatch ncbigene:386746 semapv:UnspecifiedMatching -OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:13961 semapv:UnspecifiedMatching -OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:MAS1L semapv:UnspecifiedMatching -OMIM:607235 MAS1L skos:exactMatch ncbigene:116511 semapv:UnspecifiedMatching -OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch Orphanet:157855 semapv:UnspecifiedMatching -OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch UMLS:C1846582 semapv:UnspecifiedMatching -OMIM:607237 TMIE skos:exactMatch hgnc.symbol:30800 semapv:UnspecifiedMatching -OMIM:607237 TMIE skos:exactMatch hgnc.symbol:TMIE semapv:UnspecifiedMatching -OMIM:607237 TMIE skos:exactMatch ncbigene:259236 semapv:UnspecifiedMatching -OMIM:607238 COMMD1 skos:exactMatch UMLS:C1427858 semapv:UnspecifiedMatching -OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:23024 semapv:UnspecifiedMatching -OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:COMMD1 semapv:UnspecifiedMatching -OMIM:607238 COMMD1 skos:exactMatch ncbigene:150684 semapv:UnspecifiedMatching -OMIM:607240 KMT5A skos:exactMatch UMLS:C1822692 semapv:UnspecifiedMatching -OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:29489 semapv:UnspecifiedMatching -OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:KMT5A semapv:UnspecifiedMatching -OMIM:607240 KMT5A skos:exactMatch ncbigene:387893 semapv:UnspecifiedMatching -OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:19215 semapv:UnspecifiedMatching -OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:FDCSP semapv:UnspecifiedMatching -OMIM:607241 FDCSP skos:exactMatch ncbigene:260436 semapv:UnspecifiedMatching -OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:562 semapv:UnspecifiedMatching -OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:AP2A2 semapv:UnspecifiedMatching -OMIM:607242 AP2A2 skos:exactMatch ncbigene:161 semapv:UnspecifiedMatching -OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:575 semapv:UnspecifiedMatching -OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:AP4S1 semapv:UnspecifiedMatching -OMIM:607243 AP4S1 skos:exactMatch ncbigene:11154 semapv:UnspecifiedMatching -OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:573 semapv:UnspecifiedMatching -OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:AP4E1 semapv:UnspecifiedMatching -OMIM:607244 AP4E1 skos:exactMatch ncbigene:23431 semapv:UnspecifiedMatching -OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:572 semapv:UnspecifiedMatching -OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:AP4B1 semapv:UnspecifiedMatching -OMIM:607245 AP4B1 skos:exactMatch ncbigene:10717 semapv:UnspecifiedMatching -OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:568 semapv:UnspecifiedMatching -OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:AP3D1 semapv:UnspecifiedMatching -OMIM:607246 AP3D1 skos:exactMatch ncbigene:8943 semapv:UnspecifiedMatching -OMIM:607247 CHODL skos:exactMatch hgnc.symbol:17807 semapv:UnspecifiedMatching -OMIM:607247 CHODL skos:exactMatch hgnc.symbol:CHODL semapv:UnspecifiedMatching -OMIM:607247 CHODL skos:exactMatch ncbigene:140578 semapv:UnspecifiedMatching -OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:18810 semapv:UnspecifiedMatching -OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:CATSPER2 semapv:UnspecifiedMatching -OMIM:607249 CATSPER2 skos:exactMatch ncbigene:117155 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch UMLS:C1424897 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:17317 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:TIMM22 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch ncbigene:29928 semapv:UnspecifiedMatching -OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:619 semapv:UnspecifiedMatching -OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:APOL2 semapv:UnspecifiedMatching -OMIM:607252 APOL2 skos:exactMatch ncbigene:23780 semapv:UnspecifiedMatching -OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:14868 semapv:UnspecifiedMatching -OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:APOL3 semapv:UnspecifiedMatching -OMIM:607253 APOL3 skos:exactMatch ncbigene:80833 semapv:UnspecifiedMatching -OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:14867 semapv:UnspecifiedMatching -OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:APOL4 semapv:UnspecifiedMatching -OMIM:607254 APOL4 skos:exactMatch ncbigene:80832 semapv:UnspecifiedMatching -OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:14869 semapv:UnspecifiedMatching -OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:APOL5 semapv:UnspecifiedMatching -OMIM:607255 APOL5 skos:exactMatch ncbigene:80831 semapv:UnspecifiedMatching -OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:14870 semapv:UnspecifiedMatching -OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:APOL6 semapv:UnspecifiedMatching -OMIM:607256 APOL6 skos:exactMatch ncbigene:80830 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch UMLS:C1424266 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:16421 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:SOX6 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch ncbigene:55553 semapv:UnspecifiedMatching -OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:30054 semapv:UnspecifiedMatching -OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:LGALS14 semapv:UnspecifiedMatching -OMIM:607260 placental protein 13-like protein skos:exactMatch ncbigene:56891 semapv:UnspecifiedMatching -OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:19747 semapv:UnspecifiedMatching -OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:EVC2 semapv:UnspecifiedMatching -OMIM:607261 EVC2 skos:exactMatch ncbigene:132884 semapv:UnspecifiedMatching -OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:21604 semapv:UnspecifiedMatching -OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:EPN1 semapv:UnspecifiedMatching -OMIM:607262 EPN1 skos:exactMatch ncbigene:29924 semapv:UnspecifiedMatching -OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:18639 semapv:UnspecifiedMatching -OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:EPN2 semapv:UnspecifiedMatching -OMIM:607263 EPN2 skos:exactMatch ncbigene:22905 semapv:UnspecifiedMatching -OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:18235 semapv:UnspecifiedMatching -OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:EPN3 semapv:UnspecifiedMatching -OMIM:607264 EPN3 skos:exactMatch ncbigene:55040 semapv:UnspecifiedMatching -OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:23186 semapv:UnspecifiedMatching -OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:CLINT1 semapv:UnspecifiedMatching -OMIM:607265 CLINT1 skos:exactMatch ncbigene:9685 semapv:UnspecifiedMatching -OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:13546 semapv:UnspecifiedMatching -OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:POLE3 semapv:UnspecifiedMatching -OMIM:607267 POLE3 skos:exactMatch ncbigene:54107 semapv:UnspecifiedMatching -OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:13544 semapv:UnspecifiedMatching -OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:CHRAC1 semapv:UnspecifiedMatching -OMIM:607268 CHRAC1 skos:exactMatch ncbigene:54108 semapv:UnspecifiedMatching -OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:18755 semapv:UnspecifiedMatching -OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:POLE4 semapv:UnspecifiedMatching -OMIM:607269 POLE4 skos:exactMatch ncbigene:56655 semapv:UnspecifiedMatching -OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:14262 semapv:UnspecifiedMatching -OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:AUTS2 semapv:UnspecifiedMatching -OMIM:607270 AUTS2 skos:exactMatch ncbigene:26053 semapv:UnspecifiedMatching -OMIM:607272 NDC80 skos:exactMatch UMLS:C1424628 semapv:UnspecifiedMatching -OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:16909 semapv:UnspecifiedMatching -OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:NDC80 semapv:UnspecifiedMatching -OMIM:607272 NDC80 skos:exactMatch ncbigene:10403 semapv:UnspecifiedMatching -OMIM:607273 FLCN skos:exactMatch hgnc.symbol:27310 semapv:UnspecifiedMatching -OMIM:607273 FLCN skos:exactMatch hgnc.symbol:FLCN semapv:UnspecifiedMatching -OMIM:607273 FLCN skos:exactMatch ncbigene:201163 semapv:UnspecifiedMatching -OMIM:607274 USP14 skos:exactMatch hgnc.symbol:12612 semapv:UnspecifiedMatching -OMIM:607274 USP14 skos:exactMatch hgnc.symbol:USP14 semapv:UnspecifiedMatching -OMIM:607274 USP14 skos:exactMatch ncbigene:9097 semapv:UnspecifiedMatching -OMIM:607275 HOPX skos:exactMatch hgnc.symbol:24961 semapv:UnspecifiedMatching -OMIM:607275 HOPX skos:exactMatch hgnc.symbol:HOPX semapv:UnspecifiedMatching -OMIM:607275 HOPX skos:exactMatch ncbigene:84525 semapv:UnspecifiedMatching -OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:2174 semapv:UnspecifiedMatching -OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:CNTN4 semapv:UnspecifiedMatching -OMIM:607280 CNTN4 skos:exactMatch ncbigene:152330 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch UMLS:C1426957 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:20472 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:LSM1 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch ncbigene:27257 semapv:UnspecifiedMatching -OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:13940 semapv:UnspecifiedMatching -OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:LSM2 semapv:UnspecifiedMatching -OMIM:607282 LSM2 skos:exactMatch ncbigene:57819 semapv:UnspecifiedMatching -OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:17874 semapv:UnspecifiedMatching -OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:LSM3 semapv:UnspecifiedMatching -OMIM:607283 LSM3 skos:exactMatch ncbigene:27258 semapv:UnspecifiedMatching -OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:17259 semapv:UnspecifiedMatching -OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:LSM4 semapv:UnspecifiedMatching -OMIM:607284 LSM4 skos:exactMatch ncbigene:25804 semapv:UnspecifiedMatching -OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:17162 semapv:UnspecifiedMatching -OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:LSM5 semapv:UnspecifiedMatching -OMIM:607285 LSM5 skos:exactMatch ncbigene:23658 semapv:UnspecifiedMatching -OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:17017 semapv:UnspecifiedMatching -OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:LSM6 semapv:UnspecifiedMatching -OMIM:607286 LSM6 skos:exactMatch ncbigene:11157 semapv:UnspecifiedMatching -OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:20470 semapv:UnspecifiedMatching -OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:LSM7 semapv:UnspecifiedMatching -OMIM:607287 LSM7 skos:exactMatch ncbigene:51690 semapv:UnspecifiedMatching -OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:20471 semapv:UnspecifiedMatching -OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:LSM8 semapv:UnspecifiedMatching -OMIM:607288 LSM8 skos:exactMatch ncbigene:51691 semapv:UnspecifiedMatching -OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:18561 semapv:UnspecifiedMatching -OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:BLOC1S5 semapv:UnspecifiedMatching -OMIM:607289 BLOC1S5 skos:exactMatch ncbigene:63915 semapv:UnspecifiedMatching -OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:30376 semapv:UnspecifiedMatching -OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:SHISA5 semapv:UnspecifiedMatching -OMIM:607290 SHISA5 skos:exactMatch ncbigene:51246 semapv:UnspecifiedMatching -OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:557 semapv:UnspecifiedMatching -OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:SYNRG semapv:UnspecifiedMatching -OMIM:607291 SYNRG skos:exactMatch ncbigene:11276 semapv:UnspecifiedMatching -OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:10729 semapv:UnspecifiedMatching -OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:SEMA4A semapv:UnspecifiedMatching -OMIM:607292 SEMA4A skos:exactMatch ncbigene:64218 semapv:UnspecifiedMatching -OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:13517 semapv:UnspecifiedMatching -OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:CLIC5 semapv:UnspecifiedMatching -OMIM:607293 CLIC5 skos:exactMatch ncbigene:53405 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch UMLS:C1423713 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:15764 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:TGIF2 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch ncbigene:60436 semapv:UnspecifiedMatching -OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:18150 semapv:UnspecifiedMatching -OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:MYO18B semapv:UnspecifiedMatching -OMIM:607295 MYO18B skos:exactMatch ncbigene:84700 semapv:UnspecifiedMatching -OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:864 semapv:UnspecifiedMatching -OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:ATP6V1G1 semapv:UnspecifiedMatching -OMIM:607296 ATP6V1G1 skos:exactMatch ncbigene:9550 semapv:UnspecifiedMatching -OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:7825 semapv:UnspecifiedMatching -OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:NINJ2 semapv:UnspecifiedMatching -OMIM:607297 NINJ2 skos:exactMatch ncbigene:4815 semapv:UnspecifiedMatching -OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:14131 semapv:UnspecifiedMatching -OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:GNG13 semapv:UnspecifiedMatching -OMIM:607298 GNG13 skos:exactMatch ncbigene:51764 semapv:UnspecifiedMatching -OMIM:607299 DNER skos:exactMatch hgnc.symbol:24456 semapv:UnspecifiedMatching -OMIM:607299 DNER skos:exactMatch hgnc.symbol:DNER semapv:UnspecifiedMatching -OMIM:607299 DNER skos:exactMatch ncbigene:92737 semapv:UnspecifiedMatching -OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:17340 semapv:UnspecifiedMatching -OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:PRPF8 semapv:UnspecifiedMatching -OMIM:607300 PRPF8 skos:exactMatch ncbigene:10594 semapv:UnspecifiedMatching -OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:17348 semapv:UnspecifiedMatching -OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:PRPF3 semapv:UnspecifiedMatching -OMIM:607301 PRPF3 skos:exactMatch ncbigene:9129 semapv:UnspecifiedMatching -OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:16989 semapv:UnspecifiedMatching -OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:MORF4L1 semapv:UnspecifiedMatching -OMIM:607303 MORF4L1 skos:exactMatch ncbigene:10933 semapv:UnspecifiedMatching -OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:29633 semapv:UnspecifiedMatching -OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:MDS2 semapv:UnspecifiedMatching -OMIM:607305 mds2 gene skos:exactMatch ncbigene:259283 semapv:UnspecifiedMatching -OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:11285 semapv:UnspecifiedMatching -OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:SRD5A2 semapv:UnspecifiedMatching -OMIM:607306 SRD5A2 skos:exactMatch ncbigene:6716 semapv:UnspecifiedMatching -OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:21015 semapv:UnspecifiedMatching -OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:FILIP1 semapv:UnspecifiedMatching -OMIM:607307 FILIP1 skos:exactMatch ncbigene:27145 semapv:UnspecifiedMatching -OMIM:607308 mammographic density skos:exactMatch UMLS:C1268717 semapv:UnspecifiedMatching -OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:558 semapv:UnspecifiedMatching -OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:AP1M2 semapv:UnspecifiedMatching -OMIM:607309 AP1M2 skos:exactMatch ncbigene:10053 semapv:UnspecifiedMatching -OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:214 semapv:UnspecifiedMatching -OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:ADAM7 semapv:UnspecifiedMatching -OMIM:607310 ADAM7 skos:exactMatch ncbigene:8756 semapv:UnspecifiedMatching -OMIM:607311 PGR skos:exactMatch hgnc.symbol:8910 semapv:UnspecifiedMatching -OMIM:607311 PGR skos:exactMatch hgnc.symbol:PGR semapv:UnspecifiedMatching -OMIM:607311 PGR skos:exactMatch ncbigene:5241 semapv:UnspecifiedMatching -OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:23721 semapv:UnspecifiedMatching -OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:ZC3HAV1 semapv:UnspecifiedMatching -OMIM:607312 ZC3HAV1 skos:exactMatch ncbigene:56829 semapv:UnspecifiedMatching -OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:1385 semapv:UnspecifiedMatching -OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:CABP2 semapv:UnspecifiedMatching -OMIM:607314 CABP2 skos:exactMatch ncbigene:51475 semapv:UnspecifiedMatching -OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:13714 semapv:UnspecifiedMatching -OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:CABP5 semapv:UnspecifiedMatching -OMIM:607315 CABP5 skos:exactMatch ncbigene:56344 semapv:UnspecifiedMatching -OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch Orphanet:95434 semapv:UnspecifiedMatching -OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch UMLS:C1846492 semapv:UnspecifiedMatching -OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:17171 semapv:UnspecifiedMatching -OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:LOXL4 semapv:UnspecifiedMatching -OMIM:607318 LOXL4 skos:exactMatch ncbigene:84171 semapv:UnspecifiedMatching -OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:20255 semapv:UnspecifiedMatching -OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:SFMBT1 semapv:UnspecifiedMatching -OMIM:607319 SFMBT1 skos:exactMatch ncbigene:51460 semapv:UnspecifiedMatching -OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:18958 semapv:UnspecifiedMatching -OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:RASGRP4 semapv:UnspecifiedMatching -OMIM:607320 RASGRP4 skos:exactMatch ncbigene:115727 semapv:UnspecifiedMatching -OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:14073 semapv:UnspecifiedMatching -OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:ATP1A4 semapv:UnspecifiedMatching -OMIM:607321 ATP1A4 skos:exactMatch ncbigene:480 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:959 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C0751084 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching -OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:14132 semapv:UnspecifiedMatching -OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:DOCK9 semapv:UnspecifiedMatching -OMIM:607325 DOCK9 skos:exactMatch ncbigene:23348 semapv:UnspecifiedMatching -OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:16746 semapv:UnspecifiedMatching -OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:MBNL2 semapv:UnspecifiedMatching -OMIM:607327 MBNL2 skos:exactMatch ncbigene:10150 semapv:UnspecifiedMatching -OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:24953 semapv:UnspecifiedMatching -OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:HEXIM1 semapv:UnspecifiedMatching -OMIM:607328 HEXIM1 skos:exactMatch ncbigene:10614 semapv:UnspecifiedMatching -OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching -OMIM:607330 lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching -OMIM:607330 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching -OMIM:607331 RP9 skos:exactMatch hgnc.symbol:10288 semapv:UnspecifiedMatching -OMIM:607331 RP9 skos:exactMatch hgnc.symbol:RP9 semapv:UnspecifiedMatching -OMIM:607331 RP9 skos:exactMatch ncbigene:6100 semapv:UnspecifiedMatching -OMIM:607332 NREP skos:exactMatch hgnc.symbol:16834 semapv:UnspecifiedMatching -OMIM:607332 NREP skos:exactMatch hgnc.symbol:NREP semapv:UnspecifiedMatching -OMIM:607332 NREP skos:exactMatch ncbigene:9315 semapv:UnspecifiedMatching -OMIM:607333 STRADB skos:exactMatch hgnc.symbol:13205 semapv:UnspecifiedMatching -OMIM:607333 STRADB skos:exactMatch hgnc.symbol:STRADB semapv:UnspecifiedMatching -OMIM:607333 STRADB skos:exactMatch ncbigene:55437 semapv:UnspecifiedMatching -OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:13206 semapv:UnspecifiedMatching -OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:TRAK2 semapv:UnspecifiedMatching -OMIM:607334 TRAK2 skos:exactMatch ncbigene:66008 semapv:UnspecifiedMatching -OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:17107 semapv:UnspecifiedMatching -OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:BEST2 semapv:UnspecifiedMatching -OMIM:607335 BEST2 skos:exactMatch ncbigene:54831 semapv:UnspecifiedMatching -OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:17106 semapv:UnspecifiedMatching -OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:BEST4 semapv:UnspecifiedMatching -OMIM:607336 BEST4 skos:exactMatch ncbigene:266675 semapv:UnspecifiedMatching -OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:17105 semapv:UnspecifiedMatching -OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:BEST3 semapv:UnspecifiedMatching -OMIM:607337 BEST3 skos:exactMatch ncbigene:144453 semapv:UnspecifiedMatching -OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:6555 semapv:UnspecifiedMatching -OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:LEPROTL1 semapv:UnspecifiedMatching -OMIM:607338 LEPROTL1 skos:exactMatch ncbigene:23484 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C1846414 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693546 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:4507 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:GABBR2 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch ncbigene:9568 semapv:UnspecifiedMatching -OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:21744 semapv:UnspecifiedMatching -OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:CPEB1 semapv:UnspecifiedMatching -OMIM:607342 CPEB1 skos:exactMatch ncbigene:64506 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch UMLS:C1423836 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:15924 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:SALL4 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch ncbigene:57167 semapv:UnspecifiedMatching -OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:16811 semapv:UnspecifiedMatching -OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:TUBD1 semapv:UnspecifiedMatching -OMIM:607344 TUBD1 skos:exactMatch ncbigene:51174 semapv:UnspecifiedMatching -OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:20775 semapv:UnspecifiedMatching -OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:TUBE1 semapv:UnspecifiedMatching -OMIM:607345 TUBE1 skos:exactMatch ncbigene:51175 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch UMLS:C1538265 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:20917 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:ALPK1 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch ncbigene:80216 semapv:UnspecifiedMatching -OMIM:607348 HES5 skos:exactMatch UMLS:C1426393 semapv:UnspecifiedMatching -OMIM:607348 HES5 skos:exactMatch hgnc.symbol:19764 semapv:UnspecifiedMatching -OMIM:607348 HES5 skos:exactMatch hgnc.symbol:HES5 semapv:UnspecifiedMatching -OMIM:607348 HES5 skos:exactMatch ncbigene:388585 semapv:UnspecifiedMatching -OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:15447 semapv:UnspecifiedMatching -OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:TLN2 semapv:UnspecifiedMatching -OMIM:607349 TLN2 skos:exactMatch ncbigene:83660 semapv:UnspecifiedMatching -OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:14405 semapv:UnspecifiedMatching -OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:KIF13B semapv:UnspecifiedMatching -OMIM:607350 KIF13B skos:exactMatch ncbigene:23303 semapv:UnspecifiedMatching -OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:18738 semapv:UnspecifiedMatching -OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:RHOBTB1 semapv:UnspecifiedMatching -OMIM:607351 RHOBTB1 skos:exactMatch ncbigene:9886 semapv:UnspecifiedMatching -OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C1425762 semapv:UnspecifiedMatching -OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching -OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:18756 semapv:UnspecifiedMatching -OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:RHOBTB2 semapv:UnspecifiedMatching -OMIM:607352 RHOBTB2 skos:exactMatch ncbigene:23221 semapv:UnspecifiedMatching -OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:18757 semapv:UnspecifiedMatching -OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:RHOBTB3 semapv:UnspecifiedMatching -OMIM:607353 RHOBTB3 skos:exactMatch ncbigene:22836 semapv:UnspecifiedMatching -OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:18421 semapv:UnspecifiedMatching -OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:AGO3 semapv:UnspecifiedMatching -OMIM:607355 AGO3 skos:exactMatch ncbigene:192669 semapv:UnspecifiedMatching -OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:18424 semapv:UnspecifiedMatching -OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:AGO4 semapv:UnspecifiedMatching -OMIM:607356 AGO4 skos:exactMatch ncbigene:192670 semapv:UnspecifiedMatching -OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:6299 semapv:UnspecifiedMatching -OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:KCNQ5 semapv:UnspecifiedMatching -OMIM:607357 KCNQ5 skos:exactMatch ncbigene:56479 semapv:UnspecifiedMatching -OMIM:607358 AIRE skos:exactMatch hgnc.symbol:360 semapv:UnspecifiedMatching -OMIM:607358 AIRE skos:exactMatch hgnc.symbol:AIRE semapv:UnspecifiedMatching -OMIM:607358 AIRE skos:exactMatch ncbigene:326 semapv:UnspecifiedMatching -OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:23360 semapv:UnspecifiedMatching -OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:CCAR2 semapv:UnspecifiedMatching -OMIM:607359 CCAR2 skos:exactMatch ncbigene:57805 semapv:UnspecifiedMatching -OMIM:607360 LACRT skos:exactMatch hgnc.symbol:16430 semapv:UnspecifiedMatching -OMIM:607360 LACRT skos:exactMatch hgnc.symbol:LACRT semapv:UnspecifiedMatching -OMIM:607360 LACRT skos:exactMatch ncbigene:90070 semapv:UnspecifiedMatching -OMIM:607362 RGMA skos:exactMatch hgnc.symbol:30308 semapv:UnspecifiedMatching -OMIM:607362 RGMA skos:exactMatch hgnc.symbol:RGMA semapv:UnspecifiedMatching -OMIM:607362 RGMA skos:exactMatch ncbigene:56963 semapv:UnspecifiedMatching -OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:17255 semapv:UnspecifiedMatching -OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:KNTC1 semapv:UnspecifiedMatching -OMIM:607363 KNTC1 skos:exactMatch ncbigene:9735 semapv:UnspecifiedMatching -OMIM:607365 LIPH skos:exactMatch hgnc.symbol:18483 semapv:UnspecifiedMatching -OMIM:607365 LIPH skos:exactMatch hgnc.symbol:LIPH semapv:UnspecifiedMatching -OMIM:607365 LIPH skos:exactMatch ncbigene:200879 semapv:UnspecifiedMatching -OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:6274 semapv:UnspecifiedMatching -OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:KCNK12 semapv:UnspecifiedMatching -OMIM:607366 KCNK12 skos:exactMatch ncbigene:56660 semapv:UnspecifiedMatching -OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:6275 semapv:UnspecifiedMatching -OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:KCNK13 semapv:UnspecifiedMatching -OMIM:607367 KCNK13 skos:exactMatch ncbigene:56659 semapv:UnspecifiedMatching -OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:13814 semapv:UnspecifiedMatching -OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:KCNK15 semapv:UnspecifiedMatching -OMIM:607368 KCNK15 skos:exactMatch ncbigene:60598 semapv:UnspecifiedMatching -OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:14464 semapv:UnspecifiedMatching -OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:KCNK16 semapv:UnspecifiedMatching -OMIM:607369 KCNK16 skos:exactMatch ncbigene:83795 semapv:UnspecifiedMatching -OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:14465 semapv:UnspecifiedMatching -OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:KCNK17 semapv:UnspecifiedMatching -OMIM:607370 KCNK17 skos:exactMatch ncbigene:89822 semapv:UnspecifiedMatching -OMIM:607372 MED15 skos:exactMatch hgnc.symbol:14248 semapv:UnspecifiedMatching -OMIM:607372 MED15 skos:exactMatch hgnc.symbol:MED15 semapv:UnspecifiedMatching -OMIM:607372 MED15 skos:exactMatch ncbigene:51586 semapv:UnspecifiedMatching -OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:9440 semapv:UnspecifiedMatching -OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:THAP12 semapv:UnspecifiedMatching -OMIM:607374 PRKRIR skos:exactMatch ncbigene:5612 semapv:UnspecifiedMatching -OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:24948 semapv:UnspecifiedMatching -OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:DOT1L semapv:UnspecifiedMatching -OMIM:607375 DOT1L skos:exactMatch ncbigene:84444 semapv:UnspecifiedMatching -OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:2712 semapv:UnspecifiedMatching -OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:DCTN2 semapv:UnspecifiedMatching -OMIM:607376 DCTN2 skos:exactMatch ncbigene:10540 semapv:UnspecifiedMatching -OMIM:607377 LENEP skos:exactMatch hgnc.symbol:14429 semapv:UnspecifiedMatching -OMIM:607377 LENEP skos:exactMatch hgnc.symbol:LENEP semapv:UnspecifiedMatching -OMIM:607377 LENEP skos:exactMatch ncbigene:55891 semapv:UnspecifiedMatching -OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:17860 semapv:UnspecifiedMatching -OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:SERBP1 semapv:UnspecifiedMatching -OMIM:607378 SERBP1 skos:exactMatch ncbigene:26135 semapv:UnspecifiedMatching -OMIM:607379 NF2 skos:exactMatch hgnc.symbol:7773 semapv:UnspecifiedMatching -OMIM:607379 NF2 skos:exactMatch hgnc.symbol:NF2 semapv:UnspecifiedMatching -OMIM:607379 NF2 skos:exactMatch ncbigene:4771 semapv:UnspecifiedMatching -OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:17861 semapv:UnspecifiedMatching -OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:TRAF3IP1 semapv:UnspecifiedMatching -OMIM:607380 TRAF3IP1 skos:exactMatch ncbigene:26146 semapv:UnspecifiedMatching -OMIM:607381 TIMM50 skos:exactMatch UMLS:C1428182 semapv:UnspecifiedMatching -OMIM:607381 TIMM50 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching -OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:23656 semapv:UnspecifiedMatching -OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:TIMM50 semapv:UnspecifiedMatching -OMIM:607381 TIMM50 skos:exactMatch ncbigene:92609 semapv:UnspecifiedMatching -OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:24314 semapv:UnspecifiedMatching -OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:CLIP3 semapv:UnspecifiedMatching -OMIM:607382 CLIP3 skos:exactMatch ncbigene:25999 semapv:UnspecifiedMatching -OMIM:607383 TIMM13 skos:exactMatch UMLS:C1420739 semapv:UnspecifiedMatching -OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:11816 semapv:UnspecifiedMatching -OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:TIMM13 semapv:UnspecifiedMatching -OMIM:607383 TIMM13 skos:exactMatch ncbigene:26517 semapv:UnspecifiedMatching -OMIM:607384 TIMM9 skos:exactMatch UMLS:C1420742 semapv:UnspecifiedMatching -OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:11819 semapv:UnspecifiedMatching -OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:TIMM9 semapv:UnspecifiedMatching -OMIM:607384 TIMM9 skos:exactMatch ncbigene:26520 semapv:UnspecifiedMatching -OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:30871 semapv:UnspecifiedMatching -OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:MGAT4C semapv:UnspecifiedMatching -OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch ncbigene:25834 semapv:UnspecifiedMatching -OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:30391 semapv:UnspecifiedMatching -OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:IFT172 semapv:UnspecifiedMatching -OMIM:607386 IFT172 skos:exactMatch ncbigene:26160 semapv:UnspecifiedMatching -OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:2713 semapv:UnspecifiedMatching -OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:DCTN3 semapv:UnspecifiedMatching -OMIM:607387 DCTN3 skos:exactMatch ncbigene:11258 semapv:UnspecifiedMatching -OMIM:607388 TIMM10B skos:exactMatch UMLS:C1414871 semapv:UnspecifiedMatching -OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:4022 semapv:UnspecifiedMatching -OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:TIMM10B semapv:UnspecifiedMatching -OMIM:607388 TIMM10B skos:exactMatch ncbigene:26515 semapv:UnspecifiedMatching -OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:15831 semapv:UnspecifiedMatching -OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:SSBP2 semapv:UnspecifiedMatching -OMIM:607389 SSBP2 skos:exactMatch ncbigene:23635 semapv:UnspecifiedMatching -OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:15674 semapv:UnspecifiedMatching -OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:SSBP3 semapv:UnspecifiedMatching -OMIM:607390 SSBP3 skos:exactMatch ncbigene:23648 semapv:UnspecifiedMatching -OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:15676 semapv:UnspecifiedMatching -OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:SSBP4 semapv:UnspecifiedMatching -OMIM:607391 SSBP4 skos:exactMatch ncbigene:170463 semapv:UnspecifiedMatching -OMIM:607392 WWTR1 skos:exactMatch UMLS:C1538117 semapv:UnspecifiedMatching -OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:24042 semapv:UnspecifiedMatching -OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:WWTR1 semapv:UnspecifiedMatching -OMIM:607392 WWTR1 skos:exactMatch ncbigene:25937 semapv:UnspecifiedMatching -OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:16783 semapv:UnspecifiedMatching -OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:CDC73 semapv:UnspecifiedMatching -OMIM:607393 CDC73 skos:exactMatch ncbigene:79577 semapv:UnspecifiedMatching -OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:19864 semapv:UnspecifiedMatching -OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:POU2F3 semapv:UnspecifiedMatching -OMIM:607394 POU2F3 skos:exactMatch ncbigene:25833 semapv:UnspecifiedMatching -OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:11980 semapv:UnspecifiedMatching -OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:TOB2 semapv:UnspecifiedMatching -OMIM:607396 TOB2 skos:exactMatch ncbigene:10766 semapv:UnspecifiedMatching -OMIM:607397 MC2R skos:exactMatch hgnc.symbol:6930 semapv:UnspecifiedMatching -OMIM:607397 MC2R skos:exactMatch hgnc.symbol:MC2R semapv:UnspecifiedMatching -OMIM:607397 MC2R skos:exactMatch ncbigene:4158 semapv:UnspecifiedMatching -OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:13357 semapv:UnspecifiedMatching -OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:MCOLN2 semapv:UnspecifiedMatching -OMIM:607399 MCOLN2 skos:exactMatch ncbigene:255231 semapv:UnspecifiedMatching -OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:13358 semapv:UnspecifiedMatching -OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:MCOLN3 semapv:UnspecifiedMatching -OMIM:607400 MCOLN3 skos:exactMatch ncbigene:55283 semapv:UnspecifiedMatching -OMIM:607401 IFNL2 skos:exactMatch UMLS:C1425474 semapv:UnspecifiedMatching -OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:18364 semapv:UnspecifiedMatching -OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:IFNL2 semapv:UnspecifiedMatching -OMIM:607401 IFNL2 skos:exactMatch ncbigene:282616 semapv:UnspecifiedMatching -OMIM:607402 IFNL3 skos:exactMatch UMLS:C1425475 semapv:UnspecifiedMatching -OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:18365 semapv:UnspecifiedMatching -OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:IFNL3 semapv:UnspecifiedMatching -OMIM:607402 IFNL3 skos:exactMatch ncbigene:282617 semapv:UnspecifiedMatching -OMIM:607403 IFNL1 skos:exactMatch UMLS:C1425473 semapv:UnspecifiedMatching -OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:18363 semapv:UnspecifiedMatching -OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:IFNL1 semapv:UnspecifiedMatching -OMIM:607403 IFNL1 skos:exactMatch ncbigene:282618 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch UMLS:C1425622 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:18584 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:IFNLR1 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch ncbigene:163702 semapv:UnspecifiedMatching -OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:30236 semapv:UnspecifiedMatching -OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:TAAR5 semapv:UnspecifiedMatching -OMIM:607405 TAAR5 skos:exactMatch ncbigene:9038 semapv:UnspecifiedMatching -OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:24854 semapv:UnspecifiedMatching -OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:STBD1 semapv:UnspecifiedMatching -OMIM:607406 STBD1 skos:exactMatch ncbigene:8987 semapv:UnspecifiedMatching -OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:19087 semapv:UnspecifiedMatching -OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:EBF3 semapv:UnspecifiedMatching -OMIM:607407 EBF3 skos:exactMatch ncbigene:253738 semapv:UnspecifiedMatching -OMIM:607408 DAOA skos:exactMatch hgnc.symbol:21191 semapv:UnspecifiedMatching -OMIM:607408 DAOA skos:exactMatch hgnc.symbol:DAOA semapv:UnspecifiedMatching -OMIM:607408 DAOA skos:exactMatch ncbigene:267012 semapv:UnspecifiedMatching -OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:17972 semapv:UnspecifiedMatching -OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:NRN1 semapv:UnspecifiedMatching -OMIM:607409 NRN1 skos:exactMatch ncbigene:51299 semapv:UnspecifiedMatching -OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:19026 semapv:UnspecifiedMatching -OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:DMBX1 semapv:UnspecifiedMatching -OMIM:607410 DMBX1 skos:exactMatch ncbigene:127343 semapv:UnspecifiedMatching -OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:15749 semapv:UnspecifiedMatching -OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:BPIFA1 semapv:UnspecifiedMatching -OMIM:607412 BPIFA1 skos:exactMatch ncbigene:51297 semapv:UnspecifiedMatching -OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:13506 semapv:UnspecifiedMatching -OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:FEZF2 semapv:UnspecifiedMatching -OMIM:607414 FEZF2 skos:exactMatch ncbigene:55079 semapv:UnspecifiedMatching -OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:30243 semapv:UnspecifiedMatching -OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:DAOA-AS1 semapv:UnspecifiedMatching -OMIM:607415 DAOAAS skos:exactMatch ncbigene:282706 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch UMLS:C1413393 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:1939 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:CHL1 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch ncbigene:10752 semapv:UnspecifiedMatching -OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:19095 semapv:UnspecifiedMatching -OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:GCC1 semapv:UnspecifiedMatching -OMIM:607418 GCC1 skos:exactMatch ncbigene:79571 semapv:UnspecifiedMatching -OMIM:607419 GEMIN7 skos:exactMatch UMLS:C1426635 semapv:UnspecifiedMatching -OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:20045 semapv:UnspecifiedMatching -OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:GEMIN7 semapv:UnspecifiedMatching -OMIM:607419 GEMIN7 skos:exactMatch ncbigene:79760 semapv:UnspecifiedMatching -OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:4068 semapv:UnspecifiedMatching -OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:GABARAPL1 semapv:UnspecifiedMatching -OMIM:607420 GABARAPL1 skos:exactMatch ncbigene:23710 semapv:UnspecifiedMatching -OMIM:607421 NME8 skos:exactMatch hgnc.symbol:16473 semapv:UnspecifiedMatching -OMIM:607421 NME8 skos:exactMatch hgnc.symbol:NME8 semapv:UnspecifiedMatching -OMIM:607421 NME8 skos:exactMatch ncbigene:51314 semapv:UnspecifiedMatching -OMIM:607422 GCAT skos:exactMatch hgnc.symbol:4188 semapv:UnspecifiedMatching -OMIM:607422 GCAT skos:exactMatch hgnc.symbol:GCAT semapv:UnspecifiedMatching -OMIM:607422 GCAT skos:exactMatch ncbigene:23464 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch UMLS:C1418752 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch UMLS:C5436962 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:9202 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:POMT1 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch ncbigene:10585 semapv:UnspecifiedMatching -OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:13734 semapv:UnspecifiedMatching -OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:GLYAT semapv:UnspecifiedMatching -OMIM:607424 GLYAT skos:exactMatch ncbigene:10249 semapv:UnspecifiedMatching -OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:19147 semapv:UnspecifiedMatching -OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:GJD3 semapv:UnspecifiedMatching -OMIM:607425 GJD3 skos:exactMatch ncbigene:125111 semapv:UnspecifiedMatching -OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch Orphanet:255249 semapv:UnspecifiedMatching -OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching -OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:30365 semapv:UnspecifiedMatching -OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:ENOSF1 semapv:UnspecifiedMatching -OMIM:607427 ENOSF1 skos:exactMatch ncbigene:55556 semapv:UnspecifiedMatching -OMIM:607428 KIRREL1 skos:exactMatch UMLS:C1423691 semapv:UnspecifiedMatching -OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:15734 semapv:UnspecifiedMatching -OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:KIRREL1 semapv:UnspecifiedMatching -OMIM:607428 KIRREL1 skos:exactMatch ncbigene:55243 semapv:UnspecifiedMatching -OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:17759 semapv:UnspecifiedMatching -OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:PDSS1 semapv:UnspecifiedMatching -OMIM:607429 PDSS1 skos:exactMatch ncbigene:23590 semapv:UnspecifiedMatching -OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:2683 semapv:UnspecifiedMatching -OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:DAZAP1 semapv:UnspecifiedMatching -OMIM:607430 DAZAP1 skos:exactMatch ncbigene:26528 semapv:UnspecifiedMatching -OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:2684 semapv:UnspecifiedMatching -OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:DAZAP2 semapv:UnspecifiedMatching -OMIM:607431 DAZAP2 skos:exactMatch ncbigene:9802 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C0431375 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C1848201 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch UMLS:C1843915 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:9621 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:TWF2 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch ncbigene:11344 semapv:UnspecifiedMatching -OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:4670 semapv:UnspecifiedMatching -OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:GTPBP2 semapv:UnspecifiedMatching -OMIM:607434 GTPBP2 skos:exactMatch ncbigene:54676 semapv:UnspecifiedMatching -OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:3424 semapv:UnspecifiedMatching -OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:ERAL1 semapv:UnspecifiedMatching -OMIM:607435 ERAL1 skos:exactMatch ncbigene:26284 semapv:UnspecifiedMatching -OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:15970 semapv:UnspecifiedMatching -OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:PAPOLB semapv:UnspecifiedMatching -OMIM:607436 PAPOLB skos:exactMatch ncbigene:56903 semapv:UnspecifiedMatching -OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:13310 semapv:UnspecifiedMatching -OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:GPRC5D semapv:UnspecifiedMatching -OMIM:607437 GPRC5D skos:exactMatch ncbigene:55507 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch UMLS:C1426379 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:19743 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:POMT2 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch ncbigene:29954 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch UMLS:C0410174 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch UMLS:C1414558 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch UMLS:C1969024 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch hgnc.symbol:3622 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch hgnc.symbol:FKTN semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch ncbigene:2218 semapv:UnspecifiedMatching -OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:16465 semapv:UnspecifiedMatching -OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:EPSTI1 semapv:UnspecifiedMatching -OMIM:607441 EPSTI1 skos:exactMatch ncbigene:94240 semapv:UnspecifiedMatching -OMIM:607442 EML4 skos:exactMatch hgnc.symbol:1316 semapv:UnspecifiedMatching -OMIM:607442 EML4 skos:exactMatch hgnc.symbol:EML4 semapv:UnspecifiedMatching -OMIM:607442 EML4 skos:exactMatch ncbigene:27436 semapv:UnspecifiedMatching -OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:14417 semapv:UnspecifiedMatching -OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:ELSPBP1 semapv:UnspecifiedMatching -OMIM:607443 ELSPBP1 skos:exactMatch ncbigene:64100 semapv:UnspecifiedMatching -OMIM:607444 SBDS skos:exactMatch hgnc.symbol:19440 semapv:UnspecifiedMatching -OMIM:607444 SBDS skos:exactMatch hgnc.symbol:SBDS semapv:UnspecifiedMatching -OMIM:607444 SBDS skos:exactMatch ncbigene:51119 semapv:UnspecifiedMatching -OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:16687 semapv:UnspecifiedMatching -OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:EIF4ENIF1 semapv:UnspecifiedMatching -OMIM:607445 EIF4ENIF1 skos:exactMatch ncbigene:56478 semapv:UnspecifiedMatching -OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:17425 semapv:UnspecifiedMatching -OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:NPFFR1 semapv:UnspecifiedMatching -OMIM:607448 NPFFR1 skos:exactMatch ncbigene:64106 semapv:UnspecifiedMatching -OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:4525 semapv:UnspecifiedMatching -OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:NPFFR2 semapv:UnspecifiedMatching -OMIM:607449 NPFFR2 skos:exactMatch ncbigene:10886 semapv:UnspecifiedMatching -OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:4371 semapv:UnspecifiedMatching -OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:GMEB2 semapv:UnspecifiedMatching -OMIM:607451 GMEB2 skos:exactMatch ncbigene:26205 semapv:UnspecifiedMatching -OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:13291 semapv:UnspecifiedMatching -OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:GABARAPL2 semapv:UnspecifiedMatching -OMIM:607452 GABARAPL2 skos:exactMatch ncbigene:11345 semapv:UnspecifiedMatching -OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:18019 semapv:UnspecifiedMatching -OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:ZFAND3 semapv:UnspecifiedMatching -OMIM:607455 ZFAND3 skos:exactMatch ncbigene:60685 semapv:UnspecifiedMatching -OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:1983 semapv:UnspecifiedMatching -OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:UTP4 semapv:UnspecifiedMatching -OMIM:607456 UTP4 skos:exactMatch ncbigene:84916 semapv:UnspecifiedMatching -OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:17661 semapv:UnspecifiedMatching -OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:PLA1A semapv:UnspecifiedMatching -OMIM:607460 PLA1A skos:exactMatch ncbigene:51365 semapv:UnspecifiedMatching -OMIM:607461 DYM skos:exactMatch hgnc.symbol:21317 semapv:UnspecifiedMatching -OMIM:607461 DYM skos:exactMatch hgnc.symbol:DYM semapv:UnspecifiedMatching -OMIM:607461 DYM skos:exactMatch ncbigene:54808 semapv:UnspecifiedMatching -OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:3033 semapv:UnspecifiedMatching -OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:ATN1 semapv:UnspecifiedMatching -OMIM:607462 ATN1 skos:exactMatch ncbigene:1822 semapv:UnspecifiedMatching -OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:18838 semapv:UnspecifiedMatching -OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:PPP1R13L semapv:UnspecifiedMatching -OMIM:607463 PPP1R13L skos:exactMatch ncbigene:10848 semapv:UnspecifiedMatching -OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:1713 semapv:UnspecifiedMatching -OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:CDAN1 semapv:UnspecifiedMatching -OMIM:607465 CDAN1 skos:exactMatch ncbigene:146059 semapv:UnspecifiedMatching -OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:20246 semapv:UnspecifiedMatching -OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:RAB2B semapv:UnspecifiedMatching -OMIM:607466 RAB2B skos:exactMatch ncbigene:84932 semapv:UnspecifiedMatching -OMIM:607467 CLECL1 skos:exactMatch hgnc.symbol:CLECL1P semapv:UnspecifiedMatching -OMIM:607467 CLECL1 skos:exactMatch ncbigene:160365 semapv:UnspecifiedMatching -OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:4539 semapv:UnspecifiedMatching -OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:GPR88 semapv:UnspecifiedMatching -OMIM:607468 GPR88 skos:exactMatch ncbigene:54112 semapv:UnspecifiedMatching -OMIM:607469 NAAA skos:exactMatch hgnc.symbol:736 semapv:UnspecifiedMatching -OMIM:607469 NAAA skos:exactMatch hgnc.symbol:NAAA semapv:UnspecifiedMatching -OMIM:607469 NAAA skos:exactMatch ncbigene:27163 semapv:UnspecifiedMatching -OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:14347 semapv:UnspecifiedMatching -OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:BCAS3 semapv:UnspecifiedMatching -OMIM:607470 BCAS3 skos:exactMatch ncbigene:54828 semapv:UnspecifiedMatching -OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:14367 semapv:UnspecifiedMatching -OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:BCAS4 semapv:UnspecifiedMatching -OMIM:607471 BCAS4 skos:exactMatch ncbigene:55653 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch UMLS:C1421554 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch UMLS:C4310628 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:12843 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:YME1L1 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch ncbigene:10730 semapv:UnspecifiedMatching -OMIM:607474 HGD skos:exactMatch hgnc.symbol:4892 semapv:UnspecifiedMatching -OMIM:607474 HGD skos:exactMatch hgnc.symbol:HGD semapv:UnspecifiedMatching -OMIM:607474 HGD skos:exactMatch ncbigene:3081 semapv:UnspecifiedMatching -OMIM:607475 bothnia retinal dystrophy skos:exactMatch Orphanet:85128 semapv:UnspecifiedMatching -OMIM:607475 bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 semapv:UnspecifiedMatching -OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:13698 semapv:UnspecifiedMatching -OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:GTSE1 semapv:UnspecifiedMatching -OMIM:607477 GTSE1 skos:exactMatch ncbigene:51512 semapv:UnspecifiedMatching -OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:20692 semapv:UnspecifiedMatching -OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:TPH2 semapv:UnspecifiedMatching -OMIM:607478 TPH2 skos:exactMatch ncbigene:121278 semapv:UnspecifiedMatching -OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:15718 semapv:UnspecifiedMatching -OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:APCDD1 semapv:UnspecifiedMatching -OMIM:607479 APCDD1 skos:exactMatch ncbigene:147495 semapv:UnspecifiedMatching -OMIM:607481 MMAA skos:exactMatch hgnc.symbol:18871 semapv:UnspecifiedMatching -OMIM:607481 MMAA skos:exactMatch hgnc.symbol:MMAA semapv:UnspecifiedMatching -OMIM:607481 MMAA skos:exactMatch ncbigene:166785 semapv:UnspecifiedMatching -OMIM:607484 PARD6A skos:exactMatch UMLS:C1335190 semapv:UnspecifiedMatching -OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:15943 semapv:UnspecifiedMatching -OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:PARD6A semapv:UnspecifiedMatching -OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching -OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:15982 semapv:UnspecifiedMatching -OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:CUL9 semapv:UnspecifiedMatching -OMIM:607489 CUL9 skos:exactMatch ncbigene:23113 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch UMLS:C1426348 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch hgnc.symbol:19708 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch hgnc.symbol:LDHD semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch ncbigene:197257 semapv:UnspecifiedMatching -OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:14988 semapv:UnspecifiedMatching -OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:POFUT1 semapv:UnspecifiedMatching -OMIM:607491 POFUT1 skos:exactMatch ncbigene:23509 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch UMLS:C1538563 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch UMLS:C3554343 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:30032 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:PACS1 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch ncbigene:55690 semapv:UnspecifiedMatching -OMIM:607493 ING3 skos:exactMatch hgnc.symbol:14587 semapv:UnspecifiedMatching -OMIM:607493 ING3 skos:exactMatch hgnc.symbol:ING3 semapv:UnspecifiedMatching -OMIM:607493 ING3 skos:exactMatch ncbigene:54556 semapv:UnspecifiedMatching -OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:6075 semapv:UnspecifiedMatching -OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:INPP4B semapv:UnspecifiedMatching -OMIM:607494 INPP4B skos:exactMatch ncbigene:8821 semapv:UnspecifiedMatching -OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:20203 semapv:UnspecifiedMatching -OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:NOSTRIN semapv:UnspecifiedMatching -OMIM:607496 NOSTRIN skos:exactMatch ncbigene:115677 semapv:UnspecifiedMatching -OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:922 semapv:UnspecifiedMatching -OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:B3GAT2 semapv:UnspecifiedMatching -OMIM:607497 B3GAT2 skos:exactMatch ncbigene:135152 semapv:UnspecifiedMatching -OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch UMLS:C1843782 semapv:UnspecifiedMatching -OMIM:607502 DISP1 skos:exactMatch UMLS:C1426351 semapv:UnspecifiedMatching -OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:19711 semapv:UnspecifiedMatching -OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:DISP1 semapv:UnspecifiedMatching -OMIM:607502 DISP1 skos:exactMatch ncbigene:84976 semapv:UnspecifiedMatching -OMIM:607503 DISP2 skos:exactMatch UMLS:C1426352 semapv:UnspecifiedMatching -OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:19712 semapv:UnspecifiedMatching -OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:DISP2 semapv:UnspecifiedMatching -OMIM:607503 DISP2 skos:exactMatch ncbigene:85455 semapv:UnspecifiedMatching -OMIM:607505 PASK skos:exactMatch hgnc.symbol:17270 semapv:UnspecifiedMatching -OMIM:607505 PASK skos:exactMatch hgnc.symbol:PASK semapv:UnspecifiedMatching -OMIM:607505 PASK skos:exactMatch ncbigene:23178 semapv:UnspecifiedMatching -OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:14899 semapv:UnspecifiedMatching -OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:ADAMTS14 semapv:UnspecifiedMatching -OMIM:607506 ADAMTS14 skos:exactMatch ncbigene:140766 semapv:UnspecifiedMatching -OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:16305 semapv:UnspecifiedMatching -OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:ADAMTS15 semapv:UnspecifiedMatching -OMIM:607509 ADAMTS15 skos:exactMatch ncbigene:170689 semapv:UnspecifiedMatching -OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:17108 semapv:UnspecifiedMatching -OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:ADAMTS16 semapv:UnspecifiedMatching -OMIM:607510 ADAMTS16 skos:exactMatch ncbigene:170690 semapv:UnspecifiedMatching -OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:17109 semapv:UnspecifiedMatching -OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:ADAMTS17 semapv:UnspecifiedMatching -OMIM:607511 ADAMTS17 skos:exactMatch ncbigene:170691 semapv:UnspecifiedMatching -OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:17110 semapv:UnspecifiedMatching -OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:ADAMTS18 semapv:UnspecifiedMatching -OMIM:607512 ADAMTS18 skos:exactMatch ncbigene:170692 semapv:UnspecifiedMatching -OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:17111 semapv:UnspecifiedMatching -OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:ADAMTS19 semapv:UnspecifiedMatching -OMIM:607513 ADAMTS19 skos:exactMatch ncbigene:171019 semapv:UnspecifiedMatching -OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:19254 semapv:UnspecifiedMatching -OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:PLAC8 semapv:UnspecifiedMatching -OMIM:607515 PLAC8 skos:exactMatch ncbigene:51316 semapv:UnspecifiedMatching -OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching -OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching -OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843766 semapv:UnspecifiedMatching -OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:15503 semapv:UnspecifiedMatching -OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:LILRA4 semapv:UnspecifiedMatching -OMIM:607517 LILRA4 skos:exactMatch ncbigene:23547 semapv:UnspecifiedMatching -OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:29806 semapv:UnspecifiedMatching -OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:LRRC25 semapv:UnspecifiedMatching -OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch ncbigene:126364 semapv:UnspecifiedMatching -OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:271 semapv:UnspecifiedMatching -OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:PARP4 semapv:UnspecifiedMatching -OMIM:607519 PARP4 skos:exactMatch ncbigene:143 semapv:UnspecifiedMatching -OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:20436 semapv:UnspecifiedMatching -OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:ZAR1 semapv:UnspecifiedMatching -OMIM:607520 ZAR1 skos:exactMatch ncbigene:326340 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch UMLS:C1424692 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:17022 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:HPS5 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch ncbigene:11234 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch UMLS:C1425796 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:18817 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:HPS6 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch ncbigene:79803 semapv:UnspecifiedMatching -OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:18064 semapv:UnspecifiedMatching -OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:RNF39 semapv:UnspecifiedMatching -OMIM:607524 RNF39 skos:exactMatch ncbigene:80352 semapv:UnspecifiedMatching -OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:13182 semapv:UnspecifiedMatching -OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:POLR1H semapv:UnspecifiedMatching -OMIM:607525 POLR1H skos:exactMatch ncbigene:30834 semapv:UnspecifiedMatching -OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:10328 semapv:UnspecifiedMatching -OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:RPL27 semapv:UnspecifiedMatching -OMIM:607526 RPL27 skos:exactMatch ncbigene:6155 semapv:UnspecifiedMatching -OMIM:607527 PTBP3 skos:exactMatch UMLS:C1419599 semapv:UnspecifiedMatching -OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:10253 semapv:UnspecifiedMatching -OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:PTBP3 semapv:UnspecifiedMatching -OMIM:607527 PTBP3 skos:exactMatch ncbigene:9991 semapv:UnspecifiedMatching -OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:17985 semapv:UnspecifiedMatching -OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:ROBO4 semapv:UnspecifiedMatching -OMIM:607528 ROBO4 skos:exactMatch ncbigene:54538 semapv:UnspecifiedMatching -OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:10537 semapv:UnspecifiedMatching -OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:SARS1 semapv:UnspecifiedMatching -OMIM:607529 SARS1 skos:exactMatch ncbigene:6301 semapv:UnspecifiedMatching -OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:24957 semapv:UnspecifiedMatching -OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:HOXA11-AS semapv:UnspecifiedMatching -OMIM:607530 HOXA11AS skos:exactMatch ncbigene:221883 semapv:UnspecifiedMatching -OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:6346 semapv:UnspecifiedMatching -OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:KLF12 semapv:UnspecifiedMatching -OMIM:607531 KLF12 skos:exactMatch ncbigene:11278 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch UMLS:C1539032 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:23352 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:PIBF1 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch ncbigene:10464 semapv:UnspecifiedMatching -OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:20604 semapv:UnspecifiedMatching -OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:DIS3 semapv:UnspecifiedMatching -OMIM:607533 DIS3 skos:exactMatch ncbigene:22894 semapv:UnspecifiedMatching -OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:17363 semapv:UnspecifiedMatching -OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:YAF2 semapv:UnspecifiedMatching -OMIM:607534 YAF2 skos:exactMatch ncbigene:10138 semapv:UnspecifiedMatching -OMIM:607535 RYBP skos:exactMatch hgnc.symbol:10480 semapv:UnspecifiedMatching -OMIM:607535 RYBP skos:exactMatch hgnc.symbol:RYBP semapv:UnspecifiedMatching -OMIM:607535 RYBP skos:exactMatch ncbigene:23429 semapv:UnspecifiedMatching -OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:16062 semapv:UnspecifiedMatching -OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:CRTC1 semapv:UnspecifiedMatching -OMIM:607536 CRTC1 skos:exactMatch ncbigene:23373 semapv:UnspecifiedMatching -OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:16259 semapv:UnspecifiedMatching -OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:MAML2 semapv:UnspecifiedMatching -OMIM:607537 MAML2 skos:exactMatch ncbigene:84441 semapv:UnspecifiedMatching -OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:17620 semapv:UnspecifiedMatching -OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:NDEL1 semapv:UnspecifiedMatching -OMIM:607538 NDEL1 skos:exactMatch ncbigene:81565 semapv:UnspecifiedMatching -OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch Orphanet:98963 semapv:UnspecifiedMatching -OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching -OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:6294 semapv:UnspecifiedMatching -OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:KCNQ1 semapv:UnspecifiedMatching -OMIM:607542 KCNQ1 skos:exactMatch ncbigene:3784 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch UMLS:C1423677 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:15714 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:LRPPRC semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch ncbigene:10128 semapv:UnspecifiedMatching -OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:10545 semapv:UnspecifiedMatching -OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:MSMO1 semapv:UnspecifiedMatching -OMIM:607545 MSMO1 skos:exactMatch ncbigene:6307 semapv:UnspecifiedMatching -OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:24235 semapv:UnspecifiedMatching -OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:CD200R1 semapv:UnspecifiedMatching -OMIM:607546 CD200R1 skos:exactMatch ncbigene:131450 semapv:UnspecifiedMatching -OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:17094 semapv:UnspecifiedMatching -OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:RPL39L semapv:UnspecifiedMatching -OMIM:607547 RPL39L skos:exactMatch ncbigene:116832 semapv:UnspecifiedMatching -OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:14241 semapv:UnspecifiedMatching -OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:RSPH6A semapv:UnspecifiedMatching -OMIM:607548 RSPH6A skos:exactMatch ncbigene:81492 semapv:UnspecifiedMatching -OMIM:607549 POTED skos:exactMatch hgnc.symbol:23822 semapv:UnspecifiedMatching -OMIM:607549 POTED skos:exactMatch hgnc.symbol:POTED semapv:UnspecifiedMatching -OMIM:607549 POTED skos:exactMatch ncbigene:317754 semapv:UnspecifiedMatching -OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:17027 semapv:UnspecifiedMatching -OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:SLC16A10 semapv:UnspecifiedMatching -OMIM:607550 SLC16A10 skos:exactMatch ncbigene:117247 semapv:UnspecifiedMatching -OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:10676 semapv:UnspecifiedMatching -OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:SDF2L1 semapv:UnspecifiedMatching -OMIM:607551 SDF2L1 skos:exactMatch ncbigene:23753 semapv:UnspecifiedMatching -OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:15577 semapv:UnspecifiedMatching -OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:EPPK1 semapv:UnspecifiedMatching -OMIM:607553 EPPK1 skos:exactMatch ncbigene:83481 semapv:UnspecifiedMatching -OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:11997 semapv:UnspecifiedMatching -OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:TOR3A semapv:UnspecifiedMatching -OMIM:607555 TOR3A skos:exactMatch ncbigene:64222 semapv:UnspecifiedMatching -OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:20670 semapv:UnspecifiedMatching -OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:TWIST2 semapv:UnspecifiedMatching -OMIM:607556 TWIST2 skos:exactMatch ncbigene:117581 semapv:UnspecifiedMatching -OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:20151 semapv:UnspecifiedMatching -OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:SLC17A8 semapv:UnspecifiedMatching -OMIM:607557 SLC17A8 skos:exactMatch ncbigene:246213 semapv:UnspecifiedMatching -OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:10699 semapv:UnspecifiedMatching -OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:SEC14L2 semapv:UnspecifiedMatching -OMIM:607558 SEC14L2 skos:exactMatch ncbigene:23541 semapv:UnspecifiedMatching -OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:20254 semapv:UnspecifiedMatching -OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:MGRN1 semapv:UnspecifiedMatching -OMIM:607559 MGRN1 skos:exactMatch ncbigene:23295 semapv:UnspecifiedMatching -OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:682 semapv:UnspecifiedMatching -OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:ARHGEF2 semapv:UnspecifiedMatching -OMIM:607560 ARHGEF2 skos:exactMatch ncbigene:9181 semapv:UnspecifiedMatching -OMIM:607562 IL23R skos:exactMatch hgnc.symbol:19100 semapv:UnspecifiedMatching -OMIM:607562 IL23R skos:exactMatch hgnc.symbol:IL23R semapv:UnspecifiedMatching -OMIM:607562 IL23R skos:exactMatch ncbigene:149233 semapv:UnspecifiedMatching -OMIM:607563 SLC17A6 skos:exactMatch hgnc.symbol:16703 semapv:UnspecifiedMatching -OMIM:607563 SLC17A6 skos:exactMatch hgnc.symbol:SLC17A6 semapv:UnspecifiedMatching -OMIM:607563 SLC17A6 skos:exactMatch ncbigene:57084 semapv:UnspecifiedMatching -OMIM:607564 TRIM6 skos:exactMatch hgnc.symbol:16277 semapv:UnspecifiedMatching -OMIM:607564 TRIM6 skos:exactMatch hgnc.symbol:TRIM6 semapv:UnspecifiedMatching -OMIM:607564 TRIM6 skos:exactMatch ncbigene:117854 semapv:UnspecifiedMatching -OMIM:607566 EPM2A skos:exactMatch hgnc.symbol:3413 semapv:UnspecifiedMatching -OMIM:607566 EPM2A skos:exactMatch hgnc.symbol:EPM2A semapv:UnspecifiedMatching -OMIM:607566 EPM2A skos:exactMatch ncbigene:7957 semapv:UnspecifiedMatching -OMIM:607567 OLFM3 skos:exactMatch hgnc.symbol:17990 semapv:UnspecifiedMatching -OMIM:607567 OLFM3 skos:exactMatch hgnc.symbol:OLFM3 semapv:UnspecifiedMatching -OMIM:607567 OLFM3 skos:exactMatch ncbigene:118427 semapv:UnspecifiedMatching -OMIM:607568 MMAB skos:exactMatch hgnc.symbol:19331 semapv:UnspecifiedMatching -OMIM:607568 MMAB skos:exactMatch hgnc.symbol:MMAB semapv:UnspecifiedMatching -OMIM:607568 MMAB skos:exactMatch ncbigene:326625 semapv:UnspecifiedMatching -OMIM:607570 DHX40 skos:exactMatch UMLS:C1425244 semapv:UnspecifiedMatching -OMIM:607570 DHX40 skos:exactMatch hgnc.symbol:18018 semapv:UnspecifiedMatching -OMIM:607570 DHX40 skos:exactMatch hgnc.symbol:DHX40 semapv:UnspecifiedMatching -OMIM:607570 DHX40 skos:exactMatch ncbigene:79665 semapv:UnspecifiedMatching -OMIM:607571 SLC25A21 skos:exactMatch UMLS:C1422630 semapv:UnspecifiedMatching -OMIM:607571 SLC25A21 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching -OMIM:607571 SLC25A21 skos:exactMatch hgnc.symbol:14411 semapv:UnspecifiedMatching -OMIM:607571 SLC25A21 skos:exactMatch hgnc.symbol:SLC25A21 semapv:UnspecifiedMatching -OMIM:607571 SLC25A21 skos:exactMatch ncbigene:89874 semapv:UnspecifiedMatching -OMIM:607573 MAP1S skos:exactMatch hgnc.symbol:15715 semapv:UnspecifiedMatching -OMIM:607573 MAP1S skos:exactMatch hgnc.symbol:MAP1S semapv:UnspecifiedMatching -OMIM:607573 MAP1S skos:exactMatch ncbigene:55201 semapv:UnspecifiedMatching -OMIM:607574 ARSA skos:exactMatch hgnc.symbol:713 semapv:UnspecifiedMatching -OMIM:607574 ARSA skos:exactMatch hgnc.symbol:ARSA semapv:UnspecifiedMatching -OMIM:607574 ARSA skos:exactMatch ncbigene:410 semapv:UnspecifiedMatching -OMIM:607575 ADA2 skos:exactMatch hgnc.symbol:1839 semapv:UnspecifiedMatching -OMIM:607575 ADA2 skos:exactMatch hgnc.symbol:ADA2 semapv:UnspecifiedMatching -OMIM:607575 ADA2 skos:exactMatch ncbigene:51816 semapv:UnspecifiedMatching -OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:1840 semapv:UnspecifiedMatching -OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:CECR2 semapv:UnspecifiedMatching -OMIM:607576 CECR2 skos:exactMatch ncbigene:27443 semapv:UnspecifiedMatching -OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:14573 semapv:UnspecifiedMatching -OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:ENTPD4 semapv:UnspecifiedMatching -OMIM:607577 ENTPD4 skos:exactMatch ncbigene:9583 semapv:UnspecifiedMatching -OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:16261 semapv:UnspecifiedMatching -OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:SLC22A9 semapv:UnspecifiedMatching -OMIM:607579 SLC22A9 skos:exactMatch ncbigene:114571 semapv:UnspecifiedMatching -OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:18057 semapv:UnspecifiedMatching -OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:SLC22A10 semapv:UnspecifiedMatching -OMIM:607580 SLC22A10 skos:exactMatch ncbigene:387775 semapv:UnspecifiedMatching -OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:10972 semapv:UnspecifiedMatching -OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:SLC22A8 semapv:UnspecifiedMatching -OMIM:607581 SLC22A8 skos:exactMatch ncbigene:9376 semapv:UnspecifiedMatching -OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:10970 semapv:UnspecifiedMatching -OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:SLC22A6 semapv:UnspecifiedMatching -OMIM:607582 SLC22A6 skos:exactMatch ncbigene:9356 semapv:UnspecifiedMatching -OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:20208 semapv:UnspecifiedMatching -OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:PEX11G semapv:UnspecifiedMatching -OMIM:607583 PEX11G skos:exactMatch ncbigene:92960 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C0919524 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C1843542 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C1876175 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017098 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017099 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017100 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017101 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017102 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017103 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4017104 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch UMLS:C4721414 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch hgnc.symbol:795 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch hgnc.symbol:ATM semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch ncbigene:472 semapv:UnspecifiedMatching -OMIM:607586 CARF skos:exactMatch hgnc.symbol:14435 semapv:UnspecifiedMatching -OMIM:607586 CARF skos:exactMatch hgnc.symbol:CARF semapv:UnspecifiedMatching -OMIM:607586 CARF skos:exactMatch ncbigene:79800 semapv:UnspecifiedMatching -OMIM:607587 IL17D skos:exactMatch hgnc.symbol:5984 semapv:UnspecifiedMatching -OMIM:607587 IL17D skos:exactMatch hgnc.symbol:IL17D semapv:UnspecifiedMatching -OMIM:607587 IL17D skos:exactMatch ncbigene:53342 semapv:UnspecifiedMatching -OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:9261 semapv:UnspecifiedMatching -OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:PPIL2 semapv:UnspecifiedMatching -OMIM:607588 PPIL2 skos:exactMatch ncbigene:23759 semapv:UnspecifiedMatching -OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:13900 semapv:UnspecifiedMatching -OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:SGK2 semapv:UnspecifiedMatching -OMIM:607589 SGK2 skos:exactMatch ncbigene:10110 semapv:UnspecifiedMatching -OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:18758 semapv:UnspecifiedMatching -OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:BBS7 semapv:UnspecifiedMatching -OMIM:607590 BBS7 skos:exactMatch ncbigene:55212 semapv:UnspecifiedMatching -OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:10812 semapv:UnspecifiedMatching -OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:SGK3 semapv:UnspecifiedMatching -OMIM:607591 SGK3 skos:exactMatch ncbigene:23678 semapv:UnspecifiedMatching -OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:21163 semapv:UnspecifiedMatching -OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:MDC1 semapv:UnspecifiedMatching -OMIM:607593 MDC1 skos:exactMatch ncbigene:9656 semapv:UnspecifiedMatching -OMIM:607599 RDH10 skos:exactMatch hgnc.symbol:19975 semapv:UnspecifiedMatching -OMIM:607599 RDH10 skos:exactMatch hgnc.symbol:RDH10 semapv:UnspecifiedMatching -OMIM:607599 RDH10 skos:exactMatch ncbigene:157506 semapv:UnspecifiedMatching -OMIM:607601 TICAM1 skos:exactMatch hgnc.symbol:18348 semapv:UnspecifiedMatching -OMIM:607601 TICAM1 skos:exactMatch hgnc.symbol:TICAM1 semapv:UnspecifiedMatching -OMIM:607601 TICAM1 skos:exactMatch ncbigene:148022 semapv:UnspecifiedMatching -OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:19697 semapv:UnspecifiedMatching -OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:KCNG4 semapv:UnspecifiedMatching -OMIM:607603 KCNG4 skos:exactMatch ncbigene:93107 semapv:UnspecifiedMatching -OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:19698 semapv:UnspecifiedMatching -OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:KCNV2 semapv:UnspecifiedMatching -OMIM:607604 KCNV2 skos:exactMatch ncbigene:169522 semapv:UnspecifiedMatching -OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:19662 semapv:UnspecifiedMatching -OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:GSTA5 semapv:UnspecifiedMatching -OMIM:607605 GSTA5 skos:exactMatch ncbigene:221357 semapv:UnspecifiedMatching -OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:6447 semapv:UnspecifiedMatching -OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:KRT9 semapv:UnspecifiedMatching -OMIM:607606 KRT9 skos:exactMatch ncbigene:3857 semapv:UnspecifiedMatching -OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:17359 semapv:UnspecifiedMatching -OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:NUP54 semapv:UnspecifiedMatching -OMIM:607607 NUP54 skos:exactMatch ncbigene:53371 semapv:UnspecifiedMatching -OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:11120 semapv:UnspecifiedMatching -OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:SMPD1 semapv:UnspecifiedMatching -OMIM:607608 SMPD1 skos:exactMatch ncbigene:6609 semapv:UnspecifiedMatching -OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:15702 semapv:UnspecifiedMatching -OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:PPIL4 semapv:UnspecifiedMatching -OMIM:607609 PPIL4 skos:exactMatch ncbigene:85313 semapv:UnspecifiedMatching -OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:16494 semapv:UnspecifiedMatching -OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:PLSCR2 semapv:UnspecifiedMatching -OMIM:607610 PLSCR2 skos:exactMatch ncbigene:57047 semapv:UnspecifiedMatching -OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:16495 semapv:UnspecifiedMatching -OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:PLSCR3 semapv:UnspecifiedMatching -OMIM:607611 PLSCR3 skos:exactMatch ncbigene:57048 semapv:UnspecifiedMatching -OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:16497 semapv:UnspecifiedMatching -OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:PLSCR4 semapv:UnspecifiedMatching -OMIM:607612 PLSCR4 skos:exactMatch ncbigene:57088 semapv:UnspecifiedMatching -OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:18016 semapv:UnspecifiedMatching -OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:NUP133 semapv:UnspecifiedMatching -OMIM:607613 NUP133 skos:exactMatch ncbigene:55746 semapv:UnspecifiedMatching -OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:18017 semapv:UnspecifiedMatching -OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:NUP160 semapv:UnspecifiedMatching -OMIM:607614 NUP160 skos:exactMatch ncbigene:23279 semapv:UnspecifiedMatching -OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:20261 semapv:UnspecifiedMatching -OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:NUP58 semapv:UnspecifiedMatching -OMIM:607615 NUP58 skos:exactMatch ncbigene:9818 semapv:UnspecifiedMatching -OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:29914 semapv:UnspecifiedMatching -OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:NUP107 semapv:UnspecifiedMatching -OMIM:607617 NUP107 skos:exactMatch ncbigene:57122 semapv:UnspecifiedMatching -OMIM:607618 DDX28 skos:exactMatch UMLS:C1424908 semapv:UnspecifiedMatching -OMIM:607618 DDX28 skos:exactMatch hgnc.symbol:17330 semapv:UnspecifiedMatching -OMIM:607618 DDX28 skos:exactMatch hgnc.symbol:DDX28 semapv:UnspecifiedMatching -OMIM:607618 DDX28 skos:exactMatch ncbigene:55794 semapv:UnspecifiedMatching -OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:24125 semapv:UnspecifiedMatching -OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:FRMD3 semapv:UnspecifiedMatching -OMIM:607619 FRMD3 skos:exactMatch ncbigene:257019 semapv:UnspecifiedMatching -OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:2220 semapv:UnspecifiedMatching -OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:COLEC10 semapv:UnspecifiedMatching -OMIM:607620 COLEC10 skos:exactMatch ncbigene:10584 semapv:UnspecifiedMatching -OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:16016 semapv:UnspecifiedMatching -OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:COLEC12 semapv:UnspecifiedMatching -OMIM:607621 COLEC12 skos:exactMatch ncbigene:81035 semapv:UnspecifiedMatching -OMIM:607622 PMVK skos:exactMatch hgnc.symbol:9141 semapv:UnspecifiedMatching -OMIM:607622 PMVK skos:exactMatch hgnc.symbol:PMVK semapv:UnspecifiedMatching -OMIM:607622 PMVK skos:exactMatch ncbigene:10654 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch UMLS:C0268247 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch UMLS:C1417776 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch UMLS:C4017105 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch UMLS:C4017106 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch UMLS:C4017107 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch hgnc.symbol:7897 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch hgnc.symbol:NPC1 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch ncbigene:4864 semapv:UnspecifiedMatching -OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching -OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching -OMIM:607627 BPIFA4P skos:exactMatch hgnc.symbol:20469 semapv:UnspecifiedMatching -OMIM:607627 BPIFA4P skos:exactMatch hgnc.symbol:BPIFA4P semapv:UnspecifiedMatching -OMIM:607627 BPIFA4P skos:exactMatch ncbigene:317716 semapv:UnspecifiedMatching -OMIM:607629 APH1A skos:exactMatch UMLS:C1538913 semapv:UnspecifiedMatching -OMIM:607629 APH1A skos:exactMatch hgnc.symbol:29509 semapv:UnspecifiedMatching -OMIM:607629 APH1A skos:exactMatch hgnc.symbol:APH1A semapv:UnspecifiedMatching -OMIM:607629 APH1A skos:exactMatch ncbigene:51107 semapv:UnspecifiedMatching -OMIM:607630 APH1B skos:exactMatch UMLS:C1538914 semapv:UnspecifiedMatching -OMIM:607630 APH1B skos:exactMatch hgnc.symbol:24080 semapv:UnspecifiedMatching -OMIM:607630 APH1B skos:exactMatch hgnc.symbol:APH1B semapv:UnspecifiedMatching -OMIM:607630 APH1B skos:exactMatch ncbigene:83464 semapv:UnspecifiedMatching -OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:30100 semapv:UnspecifiedMatching -OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:PSENEN semapv:UnspecifiedMatching -OMIM:607632 PSENEN skos:exactMatch ncbigene:55851 semapv:UnspecifiedMatching -OMIM:607633 XDH skos:exactMatch hgnc.symbol:12805 semapv:UnspecifiedMatching -OMIM:607633 XDH skos:exactMatch hgnc.symbol:XDH semapv:UnspecifiedMatching -OMIM:607633 XDH skos:exactMatch ncbigene:7498 semapv:UnspecifiedMatching -OMIM:607635 CPA4 skos:exactMatch UMLS:C1423695 semapv:UnspecifiedMatching -OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:15740 semapv:UnspecifiedMatching -OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:CPA4 semapv:UnspecifiedMatching -OMIM:607635 CPA4 skos:exactMatch ncbigene:51200 semapv:UnspecifiedMatching -OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:18511 semapv:UnspecifiedMatching -OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:EMX2OS semapv:UnspecifiedMatching -OMIM:607637 EMX2OS skos:exactMatch ncbigene:196047 semapv:UnspecifiedMatching -OMIM:607638 DCTD skos:exactMatch hgnc.symbol:2710 semapv:UnspecifiedMatching -OMIM:607638 DCTD skos:exactMatch hgnc.symbol:DCTD semapv:UnspecifiedMatching -OMIM:607638 DCTD skos:exactMatch ncbigene:1635 semapv:UnspecifiedMatching -OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:14461 semapv:UnspecifiedMatching -OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:SSC4D semapv:UnspecifiedMatching -OMIM:607639 SSC4D skos:exactMatch ncbigene:136853 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch UMLS:C0752125 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch UMLS:C1538303 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:10560 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:ATXN7 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch ncbigene:6314 semapv:UnspecifiedMatching -OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:9834 semapv:UnspecifiedMatching -OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:RAI1 semapv:UnspecifiedMatching -OMIM:607642 RAI1 skos:exactMatch ncbigene:10743 semapv:UnspecifiedMatching -OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:3960 semapv:UnspecifiedMatching -OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:FSCN2 semapv:UnspecifiedMatching -OMIM:607643 FSCN2 skos:exactMatch ncbigene:25794 semapv:UnspecifiedMatching -OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:18790 semapv:UnspecifiedMatching -OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:NSG1 semapv:UnspecifiedMatching -OMIM:607645 NSG1 skos:exactMatch ncbigene:27065 semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch UMLS:C1538144 semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:18668 semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:ZBTB7B semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch ncbigene:51043 semapv:UnspecifiedMatching -OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:13635 semapv:UnspecifiedMatching -OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:PLVAP semapv:UnspecifiedMatching -OMIM:607647 PLVAP skos:exactMatch ncbigene:83483 semapv:UnspecifiedMatching -OMIM:607648 STK39 skos:exactMatch hgnc.symbol:17717 semapv:UnspecifiedMatching -OMIM:607648 STK39 skos:exactMatch hgnc.symbol:STK39 semapv:UnspecifiedMatching -OMIM:607648 STK39 skos:exactMatch ncbigene:27347 semapv:UnspecifiedMatching -OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:21652 semapv:UnspecifiedMatching -OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:OSTM1 semapv:UnspecifiedMatching -OMIM:607649 OSTM1 skos:exactMatch ncbigene:28962 semapv:UnspecifiedMatching -OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:16196 semapv:UnspecifiedMatching -OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:DEFB118 semapv:UnspecifiedMatching -OMIM:607650 DEFB118 skos:exactMatch ncbigene:117285 semapv:UnspecifiedMatching -OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:19079 semapv:UnspecifiedMatching -OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:PLEKHB1 semapv:UnspecifiedMatching -OMIM:607651 PLEKHB1 skos:exactMatch ncbigene:58473 semapv:UnspecifiedMatching -OMIM:607652 STK36 skos:exactMatch hgnc.symbol:17209 semapv:UnspecifiedMatching -OMIM:607652 STK36 skos:exactMatch hgnc.symbol:STK36 semapv:UnspecifiedMatching -OMIM:607652 STK36 skos:exactMatch ncbigene:27148 semapv:UnspecifiedMatching -OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:688 semapv:UnspecifiedMatching -OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:RHOJ semapv:UnspecifiedMatching -OMIM:607653 RHOJ skos:exactMatch ncbigene:57381 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch UMLS:C1413792 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch UMLS:C5436963 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch hgnc.symbol:2501 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch hgnc.symbol:CTH semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch ncbigene:1491 semapv:UnspecifiedMatching -OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:23115 semapv:UnspecifiedMatching -OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:EAF2 semapv:UnspecifiedMatching -OMIM:607659 EAF2 skos:exactMatch ncbigene:55840 semapv:UnspecifiedMatching -OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:15473 semapv:UnspecifiedMatching -OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:TSSK3 semapv:UnspecifiedMatching -OMIM:607660 TSSK3 skos:exactMatch ncbigene:81629 semapv:UnspecifiedMatching -OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:14681 semapv:UnspecifiedMatching -OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:SPATA2 semapv:UnspecifiedMatching -OMIM:607662 SPATA2 skos:exactMatch ncbigene:9825 semapv:UnspecifiedMatching -OMIM:607663 DDX25 skos:exactMatch UMLS:C1425718 semapv:UnspecifiedMatching -OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:18698 semapv:UnspecifiedMatching -OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:DDX25 semapv:UnspecifiedMatching -OMIM:607663 DDX25 skos:exactMatch ncbigene:29118 semapv:UnspecifiedMatching -OMIM:607664 GNS skos:exactMatch hgnc.symbol:4422 semapv:UnspecifiedMatching -OMIM:607664 GNS skos:exactMatch hgnc.symbol:GNS semapv:UnspecifiedMatching -OMIM:607664 GNS skos:exactMatch ncbigene:2799 semapv:UnspecifiedMatching -OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:19705 semapv:UnspecifiedMatching -OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:ANGPTL5 semapv:UnspecifiedMatching -OMIM:607666 ANGPTL5 skos:exactMatch ncbigene:253935 semapv:UnspecifiedMatching -OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:2511 semapv:UnspecifiedMatching -OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:CTNNA3 semapv:UnspecifiedMatching -OMIM:607667 CTNNA3 skos:exactMatch ncbigene:29119 semapv:UnspecifiedMatching -OMIM:607668 ARL6IP4 skos:exactMatch UMLS:C1425285 semapv:UnspecifiedMatching -OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:18076 semapv:UnspecifiedMatching -OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:ARL6IP4 semapv:UnspecifiedMatching -OMIM:607668 ARL6IP4 skos:exactMatch ncbigene:51329 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C1824208 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C3810294 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:697 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:ARL6IP1 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch ncbigene:23204 semapv:UnspecifiedMatching -OMIM:607670 STK33 skos:exactMatch hgnc.symbol:14568 semapv:UnspecifiedMatching -OMIM:607670 STK33 skos:exactMatch hgnc.symbol:STK33 semapv:UnspecifiedMatching -OMIM:607670 STK33 skos:exactMatch ncbigene:65975 semapv:UnspecifiedMatching -OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:17412 semapv:UnspecifiedMatching -OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:CLCF1 semapv:UnspecifiedMatching -OMIM:607672 CLCF1 skos:exactMatch ncbigene:23529 semapv:UnspecifiedMatching -OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:18967 semapv:UnspecifiedMatching -OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:EDEM1 semapv:UnspecifiedMatching -OMIM:607673 EDEM1 skos:exactMatch ncbigene:9695 semapv:UnspecifiedMatching -OMIM:607675 RCOR skos:exactMatch hgnc.symbol:17441 semapv:UnspecifiedMatching -OMIM:607675 RCOR skos:exactMatch hgnc.symbol:RCOR1 semapv:UnspecifiedMatching -OMIM:607675 RCOR skos:exactMatch ncbigene:23186 semapv:UnspecifiedMatching -OMIM:607676 immunodeficiency 67 skos:exactMatch Orphanet:70592 semapv:UnspecifiedMatching -OMIM:607676 immunodeficiency 67 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch UMLS:C1426080 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:19192 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:DOCK4 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch ncbigene:9732 semapv:UnspecifiedMatching -OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:17479 semapv:UnspecifiedMatching -OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:RCHY1 semapv:UnspecifiedMatching -OMIM:607680 ZNF363 skos:exactMatch ncbigene:25898 semapv:UnspecifiedMatching -OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:19124 semapv:UnspecifiedMatching -OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:FIP1L1 semapv:UnspecifiedMatching -OMIM:607686 FIP1L1 skos:exactMatch ncbigene:81608 semapv:UnspecifiedMatching -OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:10535 semapv:UnspecifiedMatching -OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:SAR1B semapv:UnspecifiedMatching -OMIM:607690 SAR1B skos:exactMatch ncbigene:51128 semapv:UnspecifiedMatching -OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:10534 semapv:UnspecifiedMatching -OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:SAR1A semapv:UnspecifiedMatching -OMIM:607691 SAR1A skos:exactMatch ncbigene:56681 semapv:UnspecifiedMatching -OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:30972 semapv:UnspecifiedMatching -OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:SECISBP2 semapv:UnspecifiedMatching -OMIM:607693 SECISBP2 skos:exactMatch ncbigene:79048 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:137639 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447893 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447896 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:77295 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:88637 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch UMLS:C2676243 semapv:UnspecifiedMatching -OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:24614 semapv:UnspecifiedMatching -OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:EEFSEC semapv:UnspecifiedMatching -OMIM:607695 EEFSEC skos:exactMatch ncbigene:60678 semapv:UnspecifiedMatching -OMIM:607696 USH1G skos:exactMatch hgnc.symbol:16356 semapv:UnspecifiedMatching -OMIM:607696 USH1G skos:exactMatch hgnc.symbol:USH1G semapv:UnspecifiedMatching -OMIM:607696 USH1G skos:exactMatch ncbigene:124590 semapv:UnspecifiedMatching -OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:2135 semapv:UnspecifiedMatching -OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:SBF2 semapv:UnspecifiedMatching -OMIM:607697 SBF2 skos:exactMatch ncbigene:81846 semapv:UnspecifiedMatching -OMIM:607698 LCOR skos:exactMatch hgnc.symbol:29503 semapv:UnspecifiedMatching -OMIM:607698 LCOR skos:exactMatch hgnc.symbol:LCOR semapv:UnspecifiedMatching -OMIM:607698 LCOR skos:exactMatch ncbigene:84458 semapv:UnspecifiedMatching -OMIM:607699 RNF20 skos:exactMatch UMLS:C1419420 semapv:UnspecifiedMatching -OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:10062 semapv:UnspecifiedMatching -OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:RNF20 semapv:UnspecifiedMatching -OMIM:607699 RNF20 skos:exactMatch ncbigene:56254 semapv:UnspecifiedMatching -OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:16867 semapv:UnspecifiedMatching -OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:RNF40 semapv:UnspecifiedMatching -OMIM:607700 RNF40 skos:exactMatch ncbigene:9810 semapv:UnspecifiedMatching -OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:16905 semapv:UnspecifiedMatching -OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:KLHL41 semapv:UnspecifiedMatching -OMIM:607701 KLHL41 skos:exactMatch ncbigene:10324 semapv:UnspecifiedMatching -OMIM:607702 TCIM skos:exactMatch hgnc.symbol:1357 semapv:UnspecifiedMatching -OMIM:607702 TCIM skos:exactMatch hgnc.symbol:TCIM semapv:UnspecifiedMatching -OMIM:607702 TCIM skos:exactMatch ncbigene:56892 semapv:UnspecifiedMatching -OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:30052 semapv:UnspecifiedMatching -OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:NUP210 semapv:UnspecifiedMatching -OMIM:607703 NUP210 skos:exactMatch ncbigene:23225 semapv:UnspecifiedMatching -OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:19309 semapv:UnspecifiedMatching -OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:KANK1 semapv:UnspecifiedMatching -OMIM:607704 KANK1 skos:exactMatch ncbigene:23189 semapv:UnspecifiedMatching -OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:20635 semapv:UnspecifiedMatching -OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:PSME4 semapv:UnspecifiedMatching -OMIM:607705 PSME4 skos:exactMatch ncbigene:23198 semapv:UnspecifiedMatching -OMIM:607707 CAMK2B skos:exactMatch UMLS:C1413100 semapv:UnspecifiedMatching -OMIM:607707 CAMK2B skos:exactMatch UMLS:C4540484 semapv:UnspecifiedMatching -OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:1461 semapv:UnspecifiedMatching -OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:CAMK2B semapv:UnspecifiedMatching -OMIM:607707 CAMK2B skos:exactMatch ncbigene:816 semapv:UnspecifiedMatching -OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:1462 semapv:UnspecifiedMatching -OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:CAMK2D semapv:UnspecifiedMatching -OMIM:607708 CAMK2D skos:exactMatch ncbigene:817 semapv:UnspecifiedMatching -OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:11828 semapv:UnspecifiedMatching -OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:TJP2 semapv:UnspecifiedMatching -OMIM:607709 TJP2 skos:exactMatch ncbigene:9414 semapv:UnspecifiedMatching -OMIM:607710 ENTREP1 skos:exactMatch hgnc.symbol:ENTREP1 semapv:UnspecifiedMatching -OMIM:607710 ENTREP1 skos:exactMatch ncbigene:9413 semapv:UnspecifiedMatching -OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:17217 semapv:UnspecifiedMatching -OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:DIP2A semapv:UnspecifiedMatching -OMIM:607711 DIP2A skos:exactMatch ncbigene:23181 semapv:UnspecifiedMatching -OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:18595 semapv:UnspecifiedMatching -OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:HIC2 semapv:UnspecifiedMatching -OMIM:607712 HIC2 skos:exactMatch ncbigene:23119 semapv:UnspecifiedMatching -OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:29451 semapv:UnspecifiedMatching -OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:FGFBP2 semapv:UnspecifiedMatching -OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch ncbigene:83888 semapv:UnspecifiedMatching -OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:16903 semapv:UnspecifiedMatching -OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:TNIP1 semapv:UnspecifiedMatching -OMIM:607714 TNIP1 skos:exactMatch ncbigene:10318 semapv:UnspecifiedMatching -OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:16826 semapv:UnspecifiedMatching -OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:TSC22D1 semapv:UnspecifiedMatching -OMIM:607715 TSC22D1 skos:exactMatch ncbigene:8848 semapv:UnspecifiedMatching -OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:14962 semapv:UnspecifiedMatching -OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:SYT13 semapv:UnspecifiedMatching -OMIM:607716 SYT13 skos:exactMatch ncbigene:57586 semapv:UnspecifiedMatching -OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:19737 semapv:UnspecifiedMatching -OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:TNS2 semapv:UnspecifiedMatching -OMIM:607717 TNS2 skos:exactMatch ncbigene:23371 semapv:UnspecifiedMatching -OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:18638 semapv:UnspecifiedMatching -OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:SYT6 semapv:UnspecifiedMatching -OMIM:607718 SYT6 skos:exactMatch ncbigene:148281 semapv:UnspecifiedMatching -OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:19264 semapv:UnspecifiedMatching -OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:SYT8 semapv:UnspecifiedMatching -OMIM:607719 SYT8 skos:exactMatch ncbigene:90019 semapv:UnspecifiedMatching -OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:18586 semapv:UnspecifiedMatching -OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:TSNAXIP1 semapv:UnspecifiedMatching -OMIM:607720 TSNAXIP1 skos:exactMatch ncbigene:55815 semapv:UnspecifiedMatching -OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch Orphanet:2701 semapv:UnspecifiedMatching -OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C1843181 semapv:UnspecifiedMatching -OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching -OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:28963 semapv:UnspecifiedMatching -OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:EMC2 semapv:UnspecifiedMatching -OMIM:607722 EMC2 skos:exactMatch ncbigene:9694 semapv:UnspecifiedMatching -OMIM:607723 SUN1 skos:exactMatch UMLS:C1425625 semapv:UnspecifiedMatching -OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:18587 semapv:UnspecifiedMatching -OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:SUN1 semapv:UnspecifiedMatching -OMIM:607723 SUN1 skos:exactMatch ncbigene:23353 semapv:UnspecifiedMatching -OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:16471 semapv:UnspecifiedMatching -OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:CAPS2 semapv:UnspecifiedMatching -OMIM:607724 CAPS2 skos:exactMatch ncbigene:84698 semapv:UnspecifiedMatching -OMIM:607725 PARP2 skos:exactMatch UMLS:C1538580 semapv:UnspecifiedMatching -OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:272 semapv:UnspecifiedMatching -OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:PARP2 semapv:UnspecifiedMatching -OMIM:607725 PARP2 skos:exactMatch ncbigene:10038 semapv:UnspecifiedMatching -OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:273 semapv:UnspecifiedMatching -OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:PARP3 semapv:UnspecifiedMatching -OMIM:607726 PARP3 skos:exactMatch ncbigene:10039 semapv:UnspecifiedMatching -OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:30688 semapv:UnspecifiedMatching -OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:CAND1 semapv:UnspecifiedMatching -OMIM:607727 CAND1 skos:exactMatch ncbigene:55832 semapv:UnspecifiedMatching -OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:24944 semapv:UnspecifiedMatching -OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:DDIT4 semapv:UnspecifiedMatching -OMIM:607729 DDIT4 skos:exactMatch ncbigene:54541 semapv:UnspecifiedMatching -OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:30555 semapv:UnspecifiedMatching -OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:DDIT4L semapv:UnspecifiedMatching -OMIM:607730 DDIT4L skos:exactMatch ncbigene:115265 semapv:UnspecifiedMatching -OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:17074 semapv:UnspecifiedMatching -OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:SARM1 semapv:UnspecifiedMatching -OMIM:607732 SARM1 skos:exactMatch ncbigene:23098 semapv:UnspecifiedMatching -OMIM:607733 SCRIB skos:exactMatch UMLS:C1539732 semapv:UnspecifiedMatching -OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:30377 semapv:UnspecifiedMatching -OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:SCRIB semapv:UnspecifiedMatching -OMIM:607733 SCRIB skos:exactMatch ncbigene:23513 semapv:UnspecifiedMatching -OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching -OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:228374 semapv:UnspecifiedMatching -OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch UMLS:C1843164 semapv:UnspecifiedMatching -OMIM:607735 PGRMC2 skos:exactMatch UMLS:C1423970 semapv:UnspecifiedMatching -OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:16089 semapv:UnspecifiedMatching -OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:PGRMC2 semapv:UnspecifiedMatching -OMIM:607735 PGRMC2 skos:exactMatch ncbigene:10424 semapv:UnspecifiedMatching -OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:19695 semapv:UnspecifiedMatching -OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:FGFBP1 semapv:UnspecifiedMatching -OMIM:607737 FGFBP1 skos:exactMatch ncbigene:9982 semapv:UnspecifiedMatching -OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:6232 semapv:UnspecifiedMatching -OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:KCNB2 semapv:UnspecifiedMatching -OMIM:607738 KCNB2 skos:exactMatch ncbigene:9312 semapv:UnspecifiedMatching -OMIM:607740 USP32 skos:exactMatch hgnc.symbol:19143 semapv:UnspecifiedMatching -OMIM:607740 USP32 skos:exactMatch hgnc.symbol:USP32 semapv:UnspecifiedMatching -OMIM:607740 USP32 skos:exactMatch ncbigene:84669 semapv:UnspecifiedMatching -OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:19031 semapv:UnspecifiedMatching -OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:TBC1D3 semapv:UnspecifiedMatching -OMIM:607741 TBC1D3 skos:exactMatch ncbigene:729873 semapv:UnspecifiedMatching -OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:18527 semapv:UnspecifiedMatching -OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:KRT24 semapv:UnspecifiedMatching -OMIM:607742 KRT24 skos:exactMatch ncbigene:192666 semapv:UnspecifiedMatching -OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:16971 semapv:UnspecifiedMatching -OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:FRS2 semapv:UnspecifiedMatching -OMIM:607743 FRS2 skos:exactMatch ncbigene:10818 semapv:UnspecifiedMatching -OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:16970 semapv:UnspecifiedMatching -OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:FRS3 semapv:UnspecifiedMatching -OMIM:607744 FRS3 skos:exactMatch ncbigene:10817 semapv:UnspecifiedMatching -OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 semapv:UnspecifiedMatching -OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching -OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching -OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:15767 semapv:UnspecifiedMatching -OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:FERMT2 semapv:UnspecifiedMatching -OMIM:607746 FERMT2 skos:exactMatch ncbigene:10979 semapv:UnspecifiedMatching -OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:24686 semapv:UnspecifiedMatching -OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:FBLIM1 semapv:UnspecifiedMatching -OMIM:607747 FBLIM1 skos:exactMatch ncbigene:54751 semapv:UnspecifiedMatching -OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:14624 semapv:UnspecifiedMatching -OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:CDCA3 semapv:UnspecifiedMatching -OMIM:607749 CDCA3 skos:exactMatch ncbigene:83461 semapv:UnspecifiedMatching -OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:17353 semapv:UnspecifiedMatching -OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:APOBEC3C semapv:UnspecifiedMatching -OMIM:607750 APOBEC3C skos:exactMatch ncbigene:27350 semapv:UnspecifiedMatching -OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:9584 semapv:UnspecifiedMatching -OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:TAS2R38 semapv:UnspecifiedMatching -OMIM:607751 TAS2R38 skos:exactMatch ncbigene:5726 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch UMLS:C1425614 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch UMLS:C4014534 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch hgnc.symbol:18576 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch hgnc.symbol:CCNO semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch ncbigene:10309 semapv:UnspecifiedMatching -OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:17148 semapv:UnspecifiedMatching -OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:SMUG1 semapv:UnspecifiedMatching -OMIM:607753 SMUG1 skos:exactMatch ncbigene:23583 semapv:UnspecifiedMatching -OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:7112 semapv:UnspecifiedMatching -OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:MKRN1 semapv:UnspecifiedMatching -OMIM:607754 MKRN1 skos:exactMatch ncbigene:23608 semapv:UnspecifiedMatching -OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:6883 semapv:UnspecifiedMatching -OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:MAPK8IP2 semapv:UnspecifiedMatching -OMIM:607755 MAPK8IP2 skos:exactMatch ncbigene:23542 semapv:UnspecifiedMatching -OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:14235 semapv:UnspecifiedMatching -OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:AASDHPPT semapv:UnspecifiedMatching -OMIM:607756 AASDHPPT skos:exactMatch ncbigene:60496 semapv:UnspecifiedMatching -OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:1307 semapv:UnspecifiedMatching -OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:CBY1 semapv:UnspecifiedMatching -OMIM:607757 CBY1 skos:exactMatch ncbigene:25776 semapv:UnspecifiedMatching -OMIM:607758 CTNNBIP1 skos:exactMatch hgnc.symbol:16913 semapv:UnspecifiedMatching -OMIM:607758 CTNNBIP1 skos:exactMatch hgnc.symbol:CTNNBIP1 semapv:UnspecifiedMatching -OMIM:607758 CTNNBIP1 skos:exactMatch ncbigene:56998 semapv:UnspecifiedMatching -OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:6138 semapv:UnspecifiedMatching -OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:ITGA2B semapv:UnspecifiedMatching -OMIM:607759 ITGA2B skos:exactMatch ncbigene:3674 semapv:UnspecifiedMatching -OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:17008 semapv:UnspecifiedMatching -OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:TOPBP1 semapv:UnspecifiedMatching -OMIM:607760 TOPBP1 skos:exactMatch ncbigene:11073 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch UMLS:C1427986 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:23204 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:KIRREL3 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch ncbigene:84623 semapv:UnspecifiedMatching -OMIM:607762 KIRREL2 skos:exactMatch UMLS:C1425795 semapv:UnspecifiedMatching -OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:18816 semapv:UnspecifiedMatching -OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:KIRREL2 semapv:UnspecifiedMatching -OMIM:607762 KIRREL2 skos:exactMatch ncbigene:84063 semapv:UnspecifiedMatching -OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:16467 semapv:UnspecifiedMatching -OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:ACAP1 semapv:UnspecifiedMatching -OMIM:607763 CENTB1 skos:exactMatch ncbigene:9744 semapv:UnspecifiedMatching -OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:18324 semapv:UnspecifiedMatching -OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:HSD3B7 semapv:UnspecifiedMatching -OMIM:607764 HSD3B7 skos:exactMatch ncbigene:80270 semapv:UnspecifiedMatching -OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:16469 semapv:UnspecifiedMatching -OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:ACAP2 semapv:UnspecifiedMatching -OMIM:607766 CENTB2 skos:exactMatch ncbigene:23527 semapv:UnspecifiedMatching -OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:20746 semapv:UnspecifiedMatching -OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:SESN2 semapv:UnspecifiedMatching -OMIM:607767 SESN2 skos:exactMatch ncbigene:83667 semapv:UnspecifiedMatching -OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:23060 semapv:UnspecifiedMatching -OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:SESN3 semapv:UnspecifiedMatching -OMIM:607768 SESN3 skos:exactMatch ncbigene:143686 semapv:UnspecifiedMatching -OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:14339 semapv:UnspecifiedMatching -OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:PLEKHA4 semapv:UnspecifiedMatching -OMIM:607769 PLEKHA4 skos:exactMatch ncbigene:57664 semapv:UnspecifiedMatching -OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:30036 semapv:UnspecifiedMatching -OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:PLEKHA5 semapv:UnspecifiedMatching -OMIM:607770 PLEKHA5 skos:exactMatch ncbigene:54477 semapv:UnspecifiedMatching -OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:17053 semapv:UnspecifiedMatching -OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:PLEKHA6 semapv:UnspecifiedMatching -OMIM:607771 PLEKHA6 skos:exactMatch ncbigene:22874 semapv:UnspecifiedMatching -OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:14335 semapv:UnspecifiedMatching -OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:PLEKHA1 semapv:UnspecifiedMatching -OMIM:607772 PLEKHA1 skos:exactMatch ncbigene:59338 semapv:UnspecifiedMatching -OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:14336 semapv:UnspecifiedMatching -OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:PLEKHA2 semapv:UnspecifiedMatching -OMIM:607773 PLEKHA2 skos:exactMatch ncbigene:59339 semapv:UnspecifiedMatching -OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:14338 semapv:UnspecifiedMatching -OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:PLEKHA3 semapv:UnspecifiedMatching -OMIM:607774 PLEKHA3 skos:exactMatch ncbigene:65977 semapv:UnspecifiedMatching -OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:6244 semapv:UnspecifiedMatching -OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:KCNE4 semapv:UnspecifiedMatching -OMIM:607775 KCNE4 skos:exactMatch ncbigene:23704 semapv:UnspecifiedMatching -OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:19353 semapv:UnspecifiedMatching -OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:SIN3A semapv:UnspecifiedMatching -OMIM:607776 SIN3A skos:exactMatch ncbigene:25942 semapv:UnspecifiedMatching -OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:19354 semapv:UnspecifiedMatching -OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:SIN3B semapv:UnspecifiedMatching -OMIM:607777 SIN3B skos:exactMatch ncbigene:23309 semapv:UnspecifiedMatching -OMIM:607779 PAQR7 skos:exactMatch hgnc.symbol:23146 semapv:UnspecifiedMatching -OMIM:607779 PAQR7 skos:exactMatch hgnc.symbol:PAQR7 semapv:UnspecifiedMatching -OMIM:607779 PAQR7 skos:exactMatch ncbigene:164091 semapv:UnspecifiedMatching -OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:15708 semapv:UnspecifiedMatching -OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:PAQR8 semapv:UnspecifiedMatching -OMIM:607780 PAQR8 skos:exactMatch ncbigene:85315 semapv:UnspecifiedMatching -OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:29645 semapv:UnspecifiedMatching -OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:PAQR5 semapv:UnspecifiedMatching -OMIM:607781 PAQR5 skos:exactMatch ncbigene:54852 semapv:UnspecifiedMatching -OMIM:607782 LUC7L skos:exactMatch UMLS:C1416935 semapv:UnspecifiedMatching -OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:6723 semapv:UnspecifiedMatching -OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:LUC7L semapv:UnspecifiedMatching -OMIM:607782 LUC7L skos:exactMatch ncbigene:55692 semapv:UnspecifiedMatching -OMIM:607783 MESD skos:exactMatch hgnc.symbol:13520 semapv:UnspecifiedMatching -OMIM:607783 MESD skos:exactMatch hgnc.symbol:MESD semapv:UnspecifiedMatching -OMIM:607783 MESD skos:exactMatch ncbigene:23184 semapv:UnspecifiedMatching -OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:13884 semapv:UnspecifiedMatching -OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:ABCG4 semapv:UnspecifiedMatching -OMIM:607784 ABCG4 skos:exactMatch ncbigene:64137 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch UMLS:C1426592 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch UMLS:C3276239 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:20001 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:PCSK9 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch ncbigene:255738 semapv:UnspecifiedMatching -OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:28899 semapv:UnspecifiedMatching -OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:GPR180 semapv:UnspecifiedMatching -OMIM:607787 GPR180 skos:exactMatch ncbigene:160897 semapv:UnspecifiedMatching -OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:18451 semapv:UnspecifiedMatching -OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:MCFD2 semapv:UnspecifiedMatching -OMIM:607788 MCFD2 skos:exactMatch ncbigene:90411 semapv:UnspecifiedMatching -OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:8921 semapv:UnspecifiedMatching -OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:PHF3 semapv:UnspecifiedMatching -OMIM:607789 PHF3 skos:exactMatch ncbigene:23469 semapv:UnspecifiedMatching -OMIM:607790 TET1 skos:exactMatch UMLS:C1428863 semapv:UnspecifiedMatching -OMIM:607790 TET1 skos:exactMatch hgnc.symbol:29484 semapv:UnspecifiedMatching -OMIM:607790 TET1 skos:exactMatch hgnc.symbol:TET1 semapv:UnspecifiedMatching -OMIM:607790 TET1 skos:exactMatch ncbigene:80312 semapv:UnspecifiedMatching -OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:20253 semapv:UnspecifiedMatching -OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:GCSAM semapv:UnspecifiedMatching -OMIM:607792 GCSAM skos:exactMatch ncbigene:257144 semapv:UnspecifiedMatching -OMIM:607793 PPAN skos:exactMatch hgnc.symbol:9227 semapv:UnspecifiedMatching -OMIM:607793 PPAN skos:exactMatch hgnc.symbol:PPAN semapv:UnspecifiedMatching -OMIM:607793 PPAN skos:exactMatch ncbigene:56342 semapv:UnspecifiedMatching -OMIM:607794 MESTIT1 skos:exactMatch UMLS:C1425221 semapv:UnspecifiedMatching -OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:17991 semapv:UnspecifiedMatching -OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:MESTIT1 semapv:UnspecifiedMatching -OMIM:607794 MESTIT1 skos:exactMatch ncbigene:317751 semapv:UnspecifiedMatching -OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:17349 semapv:UnspecifiedMatching -OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:PRPF4 semapv:UnspecifiedMatching -OMIM:607795 PRPF4 skos:exactMatch ncbigene:9128 semapv:UnspecifiedMatching -OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:17024 semapv:UnspecifiedMatching -OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:PHF11 semapv:UnspecifiedMatching -OMIM:607796 PHF11 skos:exactMatch ncbigene:51131 semapv:UnspecifiedMatching -OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:30857 semapv:UnspecifiedMatching -OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:SNRNP40 semapv:UnspecifiedMatching -OMIM:607797 SNRNP40 skos:exactMatch ncbigene:9410 semapv:UnspecifiedMatching -OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:18056 semapv:UnspecifiedMatching -OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:TAF1L semapv:UnspecifiedMatching -OMIM:607798 TAF1L skos:exactMatch ncbigene:138474 semapv:UnspecifiedMatching -OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:18412 semapv:UnspecifiedMatching -OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:ZDHHC17 semapv:UnspecifiedMatching -OMIM:607799 ZDHHC17 skos:exactMatch ncbigene:23390 semapv:UnspecifiedMatching -OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:14637 semapv:UnspecifiedMatching -OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:ABCA12 semapv:UnspecifiedMatching -OMIM:607800 ABCA12 skos:exactMatch ncbigene:26154 semapv:UnspecifiedMatching -OMIM:607802 CNNM1 skos:exactMatch hgnc.symbol:102 semapv:UnspecifiedMatching -OMIM:607802 CNNM1 skos:exactMatch hgnc.symbol:CNNM1 semapv:UnspecifiedMatching -OMIM:607802 CNNM1 skos:exactMatch ncbigene:26507 semapv:UnspecifiedMatching -OMIM:607803 CNNM2 skos:exactMatch hgnc.symbol:103 semapv:UnspecifiedMatching -OMIM:607803 CNNM2 skos:exactMatch hgnc.symbol:CNNM2 semapv:UnspecifiedMatching -OMIM:607803 CNNM2 skos:exactMatch ncbigene:54805 semapv:UnspecifiedMatching -OMIM:607804 CNNM3 skos:exactMatch hgnc.symbol:104 semapv:UnspecifiedMatching -OMIM:607804 CNNM3 skos:exactMatch hgnc.symbol:CNNM3 semapv:UnspecifiedMatching -OMIM:607804 CNNM3 skos:exactMatch ncbigene:26505 semapv:UnspecifiedMatching -OMIM:607805 CNNM4 skos:exactMatch hgnc.symbol:105 semapv:UnspecifiedMatching -OMIM:607805 CNNM4 skos:exactMatch hgnc.symbol:CNNM4 semapv:UnspecifiedMatching -OMIM:607805 CNNM4 skos:exactMatch ncbigene:26504 semapv:UnspecifiedMatching -OMIM:607806 OTOP1 skos:exactMatch hgnc.symbol:19656 semapv:UnspecifiedMatching -OMIM:607806 OTOP1 skos:exactMatch hgnc.symbol:OTOP1 semapv:UnspecifiedMatching -OMIM:607806 OTOP1 skos:exactMatch ncbigene:133060 semapv:UnspecifiedMatching -OMIM:607807 ABCA13 skos:exactMatch hgnc.symbol:14638 semapv:UnspecifiedMatching -OMIM:607807 ABCA13 skos:exactMatch hgnc.symbol:ABCA13 semapv:UnspecifiedMatching -OMIM:607807 ABCA13 skos:exactMatch ncbigene:154664 semapv:UnspecifiedMatching -OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:7837 semapv:UnspecifiedMatching -OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:NKX2-4 semapv:UnspecifiedMatching -OMIM:607808 NKX2-4 skos:exactMatch ncbigene:644524 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch UMLS:C1412111 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch UMLS:C1536500 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:93 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:ACAT1 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch ncbigene:38 semapv:UnspecifiedMatching -OMIM:607810 RSAD2 skos:exactMatch UMLS:C1539703 semapv:UnspecifiedMatching -OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:30908 semapv:UnspecifiedMatching -OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:RSAD2 semapv:UnspecifiedMatching -OMIM:607810 RSAD2 skos:exactMatch ncbigene:91543 semapv:UnspecifiedMatching -OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:20882 semapv:UnspecifiedMatching -OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:PAK1IP1 semapv:UnspecifiedMatching -OMIM:607811 PAK1IP1 skos:exactMatch ncbigene:55003 semapv:UnspecifiedMatching -OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:23496 semapv:UnspecifiedMatching -OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:PLPPR4 semapv:UnspecifiedMatching -OMIM:607813 PLPPR4 skos:exactMatch ncbigene:9890 semapv:UnspecifiedMatching -OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:30304 semapv:UnspecifiedMatching -OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:RGS9BP semapv:UnspecifiedMatching -OMIM:607814 RGS9BP skos:exactMatch ncbigene:388531 semapv:UnspecifiedMatching -OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:24600 semapv:UnspecifiedMatching -OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:ANKS1B semapv:UnspecifiedMatching -OMIM:607815 ANKS1B skos:exactMatch ncbigene:56899 semapv:UnspecifiedMatching -OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:21156 semapv:UnspecifiedMatching -OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:PCGF6 semapv:UnspecifiedMatching -OMIM:607816 PCGF6 skos:exactMatch ncbigene:84108 semapv:UnspecifiedMatching -OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:2183 semapv:UnspecifiedMatching -OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:VPS13B semapv:UnspecifiedMatching -OMIM:607817 VPS13B skos:exactMatch ncbigene:157680 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch UMLS:C1425371 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:18194 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:ZNF365 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch ncbigene:22891 semapv:UnspecifiedMatching -OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:19089 semapv:UnspecifiedMatching -OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:SLC30A5 semapv:UnspecifiedMatching -OMIM:607819 SLC30A5 skos:exactMatch ncbigene:64924 semapv:UnspecifiedMatching -OMIM:607820 HOOK1 skos:exactMatch UMLS:C1426505 semapv:UnspecifiedMatching -OMIM:607820 HOOK1 skos:exactMatch hgnc.symbol:19884 semapv:UnspecifiedMatching -OMIM:607820 HOOK1 skos:exactMatch hgnc.symbol:HOOK1 semapv:UnspecifiedMatching -OMIM:607820 HOOK1 skos:exactMatch ncbigene:51361 semapv:UnspecifiedMatching -OMIM:607824 HOOK2 skos:exactMatch UMLS:C1426506 semapv:UnspecifiedMatching -OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:19885 semapv:UnspecifiedMatching -OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:HOOK2 semapv:UnspecifiedMatching -OMIM:607824 HOOK2 skos:exactMatch ncbigene:29911 semapv:UnspecifiedMatching -OMIM:607825 HOOK3 skos:exactMatch UMLS:C1428139 semapv:UnspecifiedMatching -OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:23576 semapv:UnspecifiedMatching -OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:HOOK3 semapv:UnspecifiedMatching -OMIM:607825 HOOK3 skos:exactMatch ncbigene:84376 semapv:UnspecifiedMatching -OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:344 semapv:UnspecifiedMatching -OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:AHCYL1 semapv:UnspecifiedMatching -OMIM:607826 AHCYL1 skos:exactMatch ncbigene:10768 semapv:UnspecifiedMatching -OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:19657 semapv:UnspecifiedMatching -OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:OTOP2 semapv:UnspecifiedMatching -OMIM:607827 OTOP2 skos:exactMatch ncbigene:92736 semapv:UnspecifiedMatching -OMIM:607828 OTOP3 skos:exactMatch hgnc.symbol:19658 semapv:UnspecifiedMatching -OMIM:607828 OTOP3 skos:exactMatch hgnc.symbol:OTOP3 semapv:UnspecifiedMatching -OMIM:607828 OTOP3 skos:exactMatch ncbigene:347741 semapv:UnspecifiedMatching -OMIM:607830 FRAS1 skos:exactMatch hgnc.symbol:19185 semapv:UnspecifiedMatching -OMIM:607830 FRAS1 skos:exactMatch hgnc.symbol:FRAS1 semapv:UnspecifiedMatching -OMIM:607830 FRAS1 skos:exactMatch ncbigene:80144 semapv:UnspecifiedMatching -OMIM:607833 TAC4 skos:exactMatch hgnc.symbol:16641 semapv:UnspecifiedMatching -OMIM:607833 TAC4 skos:exactMatch hgnc.symbol:TAC4 semapv:UnspecifiedMatching -OMIM:607833 TAC4 skos:exactMatch ncbigene:255061 semapv:UnspecifiedMatching -OMIM:607835 SF3B6 skos:exactMatch hgnc.symbol:30096 semapv:UnspecifiedMatching -OMIM:607835 SF3B6 skos:exactMatch hgnc.symbol:SF3B6 semapv:UnspecifiedMatching -OMIM:607835 SF3B6 skos:exactMatch ncbigene:51639 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch UMLS:C1413500 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:2079 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:CLN8 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch ncbigene:2055 semapv:UnspecifiedMatching -OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:23026 semapv:UnspecifiedMatching -OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:GNPTG semapv:UnspecifiedMatching -OMIM:607838 GNPTG skos:exactMatch ncbigene:84572 semapv:UnspecifiedMatching -OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:4180 semapv:UnspecifiedMatching -OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:GBE1 semapv:UnspecifiedMatching -OMIM:607839 GBE1 skos:exactMatch ncbigene:2632 semapv:UnspecifiedMatching -OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:29670 semapv:UnspecifiedMatching -OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:GNPTAB semapv:UnspecifiedMatching -OMIM:607840 GNPTAB skos:exactMatch ncbigene:79158 semapv:UnspecifiedMatching -OMIM:607842 aural atresia, congenital skos:exactMatch Orphanet:141074 semapv:UnspecifiedMatching -OMIM:607842 aural atresia, congenital skos:exactMatch UMLS:C1842937 semapv:UnspecifiedMatching -OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:20313 semapv:UnspecifiedMatching -OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:PKHD1L1 semapv:UnspecifiedMatching -OMIM:607843 PKHD1L1 skos:exactMatch ncbigene:93035 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C0029455 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C1537562 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149399 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149695 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch UMLS:C5394581 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:28887 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:LEMD3 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch ncbigene:23592 semapv:UnspecifiedMatching -OMIM:607845 XPO5 skos:exactMatch UMLS:C1425032 semapv:UnspecifiedMatching -OMIM:607845 XPO5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:17675 semapv:UnspecifiedMatching -OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:XPO5 semapv:UnspecifiedMatching -OMIM:607845 XPO5 skos:exactMatch ncbigene:57510 semapv:UnspecifiedMatching -OMIM:607846 METTL2B skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching -OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:18272 semapv:UnspecifiedMatching -OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:METTL2B semapv:UnspecifiedMatching -OMIM:607846 METTL2B skos:exactMatch ncbigene:55798 semapv:UnspecifiedMatching -OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch Orphanet:2688 semapv:UnspecifiedMatching -OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching -OMIM:607848 RILP skos:exactMatch hgnc.symbol:30266 semapv:UnspecifiedMatching -OMIM:607848 RILP skos:exactMatch hgnc.symbol:RILP semapv:UnspecifiedMatching -OMIM:607848 RILP skos:exactMatch ncbigene:83547 semapv:UnspecifiedMatching -OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:17964 semapv:UnspecifiedMatching -OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:RDH11 semapv:UnspecifiedMatching -OMIM:607849 RDH11 skos:exactMatch ncbigene:51109 semapv:UnspecifiedMatching -OMIM:607851 NKD1 skos:exactMatch UMLS:C1424706 semapv:UnspecifiedMatching -OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:17045 semapv:UnspecifiedMatching -OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:NKD1 semapv:UnspecifiedMatching -OMIM:607851 NKD1 skos:exactMatch ncbigene:85407 semapv:UnspecifiedMatching -OMIM:607852 NKD2 skos:exactMatch UMLS:C1424707 semapv:UnspecifiedMatching -OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:17046 semapv:UnspecifiedMatching -OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:NKD2 semapv:UnspecifiedMatching -OMIM:607852 NKD2 skos:exactMatch ncbigene:85409 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C1826421 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:12703 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:BEST1 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch ncbigene:7439 semapv:UnspecifiedMatching -OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch Orphanet:258 semapv:UnspecifiedMatching -OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch UMLS:C1263858 semapv:UnspecifiedMatching -OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:25931 semapv:UnspecifiedMatching -OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:CGNL1 semapv:UnspecifiedMatching -OMIM:607856 CGNL1 skos:exactMatch ncbigene:84952 semapv:UnspecifiedMatching -OMIM:607858 PARL skos:exactMatch hgnc.symbol:18253 semapv:UnspecifiedMatching -OMIM:607858 PARL skos:exactMatch hgnc.symbol:PARL semapv:UnspecifiedMatching -OMIM:607858 PARL skos:exactMatch ncbigene:55486 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1538138 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:30935 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:YY1AP1 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch ncbigene:55249 semapv:UnspecifiedMatching -OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:17748 semapv:UnspecifiedMatching -OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:DACT1 semapv:UnspecifiedMatching -OMIM:607861 DACT1 skos:exactMatch ncbigene:51339 semapv:UnspecifiedMatching -OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:19127 semapv:UnspecifiedMatching -OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:DIRAS1 semapv:UnspecifiedMatching -OMIM:607862 DIRAS1 skos:exactMatch ncbigene:148252 semapv:UnspecifiedMatching -OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:19323 semapv:UnspecifiedMatching -OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:DIRAS2 semapv:UnspecifiedMatching -OMIM:607863 DIRAS2 skos:exactMatch ncbigene:54769 semapv:UnspecifiedMatching -OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:20263 semapv:UnspecifiedMatching -OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:SETDB2 semapv:UnspecifiedMatching -OMIM:607865 SETDB2 skos:exactMatch ncbigene:83852 semapv:UnspecifiedMatching -OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:14297 semapv:UnspecifiedMatching -OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:SPRYD7 semapv:UnspecifiedMatching -OMIM:607866 SPRYD7 skos:exactMatch ncbigene:57213 semapv:UnspecifiedMatching -OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:18243 semapv:UnspecifiedMatching -OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:RCBTB1 semapv:UnspecifiedMatching -OMIM:607867 RCBTB1 skos:exactMatch ncbigene:55213 semapv:UnspecifiedMatching -OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:16281 semapv:UnspecifiedMatching -OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:TRIM11 semapv:UnspecifiedMatching -OMIM:607868 TRIM11 skos:exactMatch ncbigene:81559 semapv:UnspecifiedMatching -OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:12567 semapv:UnspecifiedMatching -OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:UNC5A semapv:UnspecifiedMatching -OMIM:607869 UNC5A skos:exactMatch ncbigene:90249 semapv:UnspecifiedMatching -OMIM:607870 UNC5B skos:exactMatch UMLS:C1421358 semapv:UnspecifiedMatching -OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:12568 semapv:UnspecifiedMatching -OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:UNC5B semapv:UnspecifiedMatching -OMIM:607870 UNC5B skos:exactMatch ncbigene:219699 semapv:UnspecifiedMatching -OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:13590 semapv:UnspecifiedMatching -OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:FBXO11 semapv:UnspecifiedMatching -OMIM:607871 FBXO11 skos:exactMatch ncbigene:80204 semapv:UnspecifiedMatching -OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:16820 semapv:UnspecifiedMatching -OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:SCARF1 semapv:UnspecifiedMatching -OMIM:607873 SCARF1 skos:exactMatch ncbigene:8578 semapv:UnspecifiedMatching -OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:16052 semapv:UnspecifiedMatching -OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:ZNF444 semapv:UnspecifiedMatching -OMIM:607874 ZNF444 skos:exactMatch ncbigene:55311 semapv:UnspecifiedMatching -OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:33882 semapv:UnspecifiedMatching -OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:INPP5K semapv:UnspecifiedMatching -OMIM:607875 INPP5K skos:exactMatch ncbigene:51763 semapv:UnspecifiedMatching -OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:22644 semapv:UnspecifiedMatching -OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:OTOS semapv:UnspecifiedMatching -OMIM:607877 otospiralin skos:exactMatch ncbigene:150677 semapv:UnspecifiedMatching -OMIM:607878 NNT skos:exactMatch hgnc.symbol:7863 semapv:UnspecifiedMatching -OMIM:607878 NNT skos:exactMatch hgnc.symbol:NNT semapv:UnspecifiedMatching -OMIM:607878 NNT skos:exactMatch ncbigene:23530 semapv:UnspecifiedMatching -OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:30380 semapv:UnspecifiedMatching -OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:EXOC1 semapv:UnspecifiedMatching -OMIM:607879 EXOC1 skos:exactMatch ncbigene:55763 semapv:UnspecifiedMatching -OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:17085 semapv:UnspecifiedMatching -OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:EXOC6B semapv:UnspecifiedMatching -OMIM:607880 EXOC6B skos:exactMatch ncbigene:23233 semapv:UnspecifiedMatching -OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:30430 semapv:UnspecifiedMatching -OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:STAP2 semapv:UnspecifiedMatching -OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch ncbigene:55620 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch UMLS:C1539607 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:30224 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:SLC52A2 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch ncbigene:79581 semapv:UnspecifiedMatching -OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:30225 semapv:UnspecifiedMatching -OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:SLC52A1 semapv:UnspecifiedMatching -OMIM:607883 SLC52A1 skos:exactMatch ncbigene:55065 semapv:UnspecifiedMatching -OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:19172 semapv:UnspecifiedMatching -OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:CMTM1 semapv:UnspecifiedMatching -OMIM:607884 CMTM1 skos:exactMatch ncbigene:113540 semapv:UnspecifiedMatching -OMIM:607885 CMTM2 skos:exactMatch hgnc.symbol:19173 semapv:UnspecifiedMatching -OMIM:607885 CMTM2 skos:exactMatch hgnc.symbol:CMTM2 semapv:UnspecifiedMatching -OMIM:607885 CMTM2 skos:exactMatch ncbigene:146225 semapv:UnspecifiedMatching -OMIM:607886 CMTM3 skos:exactMatch hgnc.symbol:19174 semapv:UnspecifiedMatching -OMIM:607886 CMTM3 skos:exactMatch hgnc.symbol:CMTM3 semapv:UnspecifiedMatching -OMIM:607886 CMTM3 skos:exactMatch ncbigene:123920 semapv:UnspecifiedMatching -OMIM:607887 CMTM4 skos:exactMatch hgnc.symbol:19175 semapv:UnspecifiedMatching -OMIM:607887 CMTM4 skos:exactMatch hgnc.symbol:CMTM4 semapv:UnspecifiedMatching -OMIM:607887 CMTM4 skos:exactMatch ncbigene:146223 semapv:UnspecifiedMatching -OMIM:607888 CMTM5 skos:exactMatch hgnc.symbol:19176 semapv:UnspecifiedMatching -OMIM:607888 CMTM5 skos:exactMatch hgnc.symbol:CMTM5 semapv:UnspecifiedMatching -OMIM:607888 CMTM5 skos:exactMatch ncbigene:116173 semapv:UnspecifiedMatching -OMIM:607889 CMTM6 skos:exactMatch hgnc.symbol:19177 semapv:UnspecifiedMatching -OMIM:607889 CMTM6 skos:exactMatch hgnc.symbol:CMTM6 semapv:UnspecifiedMatching -OMIM:607889 CMTM6 skos:exactMatch ncbigene:54918 semapv:UnspecifiedMatching -OMIM:607890 CMTM7 skos:exactMatch hgnc.symbol:19178 semapv:UnspecifiedMatching -OMIM:607890 CMTM7 skos:exactMatch hgnc.symbol:CMTM7 semapv:UnspecifiedMatching -OMIM:607890 CMTM7 skos:exactMatch ncbigene:112616 semapv:UnspecifiedMatching -OMIM:607891 CMTM8 skos:exactMatch hgnc.symbol:19179 semapv:UnspecifiedMatching -OMIM:607891 CMTM8 skos:exactMatch hgnc.symbol:CMTM8 semapv:UnspecifiedMatching -OMIM:607891 CMTM8 skos:exactMatch ncbigene:152189 semapv:UnspecifiedMatching -OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:21307 semapv:UnspecifiedMatching -OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:DSG4 semapv:UnspecifiedMatching -OMIM:607892 DSG4 skos:exactMatch ncbigene:147409 semapv:UnspecifiedMatching -OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:21715 semapv:UnspecifiedMatching -OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:PKD1L2 semapv:UnspecifiedMatching -OMIM:607894 PKD1L2 skos:exactMatch ncbigene:114780 semapv:UnspecifiedMatching -OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:21716 semapv:UnspecifiedMatching -OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:PKD1L3 semapv:UnspecifiedMatching -OMIM:607895 PKD1L3 skos:exactMatch ncbigene:342372 semapv:UnspecifiedMatching -OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:24203 semapv:UnspecifiedMatching -OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:OVCA2 semapv:UnspecifiedMatching -OMIM:607896 OVCA2 skos:exactMatch ncbigene:124641 semapv:UnspecifiedMatching -OMIM:607897 MSI2 skos:exactMatch UMLS:C1425623 semapv:UnspecifiedMatching -OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:18585 semapv:UnspecifiedMatching -OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:MSI2 semapv:UnspecifiedMatching -OMIM:607897 MSI2 skos:exactMatch ncbigene:124540 semapv:UnspecifiedMatching -OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:16228 semapv:UnspecifiedMatching -OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:TRIB3 semapv:UnspecifiedMatching -OMIM:607898 TRIB3 skos:exactMatch ncbigene:57761 semapv:UnspecifiedMatching -OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:18135 semapv:UnspecifiedMatching -OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:WT1-AS semapv:UnspecifiedMatching -OMIM:607899 WT1AS skos:exactMatch ncbigene:51352 semapv:UnspecifiedMatching -OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:15889 semapv:UnspecifiedMatching -OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:FERMT1 semapv:UnspecifiedMatching -OMIM:607900 FERMT1 skos:exactMatch ncbigene:55612 semapv:UnspecifiedMatching -OMIM:607901 FERMT3 skos:exactMatch hgnc.symbol:23151 semapv:UnspecifiedMatching -OMIM:607901 FERMT3 skos:exactMatch hgnc.symbol:FERMT3 semapv:UnspecifiedMatching -OMIM:607901 FERMT3 skos:exactMatch ncbigene:83706 semapv:UnspecifiedMatching -OMIM:607902 SNUPN skos:exactMatch hgnc.symbol:14245 semapv:UnspecifiedMatching -OMIM:607902 SNUPN skos:exactMatch hgnc.symbol:SNUPN semapv:UnspecifiedMatching -OMIM:607902 SNUPN skos:exactMatch ncbigene:10073 semapv:UnspecifiedMatching -OMIM:607904 CACNA1H skos:exactMatch hgnc.symbol:1395 semapv:UnspecifiedMatching -OMIM:607904 CACNA1H skos:exactMatch hgnc.symbol:CACNA1H semapv:UnspecifiedMatching -OMIM:607904 CACNA1H skos:exactMatch ncbigene:8912 semapv:UnspecifiedMatching -OMIM:607905 ALG2 skos:exactMatch hgnc.symbol:23159 semapv:UnspecifiedMatching -OMIM:607905 ALG2 skos:exactMatch hgnc.symbol:ALG2 semapv:UnspecifiedMatching -OMIM:607905 ALG2 skos:exactMatch ncbigene:85365 semapv:UnspecifiedMatching -OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:16084 semapv:UnspecifiedMatching -OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:LIMS2 semapv:UnspecifiedMatching -OMIM:607908 LIMS2 skos:exactMatch ncbigene:55679 semapv:UnspecifiedMatching -OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:16432 semapv:UnspecifiedMatching -OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:AZIN1 semapv:UnspecifiedMatching -OMIM:607909 AZIN1 skos:exactMatch ncbigene:51582 semapv:UnspecifiedMatching -OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:16666 semapv:UnspecifiedMatching -OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:KIF9 semapv:UnspecifiedMatching -OMIM:607910 KIF9 skos:exactMatch ncbigene:64147 semapv:UnspecifiedMatching -OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:19735 semapv:UnspecifiedMatching -OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:EPM2AIP1 semapv:UnspecifiedMatching -OMIM:607911 EPM2AIP1 skos:exactMatch ncbigene:9852 semapv:UnspecifiedMatching -OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:18136 semapv:UnspecifiedMatching -OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:SELENOT semapv:UnspecifiedMatching -OMIM:607912 SELENOT skos:exactMatch ncbigene:51714 semapv:UnspecifiedMatching -OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:4558 semapv:UnspecifiedMatching -OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:GPX6 semapv:UnspecifiedMatching -OMIM:607913 GPX6 skos:exactMatch ncbigene:257202 semapv:UnspecifiedMatching -OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:18251 semapv:UnspecifiedMatching -OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:SELENOH semapv:UnspecifiedMatching -OMIM:607914 SELENOH skos:exactMatch ncbigene:280636 semapv:UnspecifiedMatching -OMIM:607915 SELENOI skos:exactMatch UMLS:C1842834 semapv:UnspecifiedMatching -OMIM:607915 SELENOI skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching -OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:29361 semapv:UnspecifiedMatching -OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:SELENOI semapv:UnspecifiedMatching -OMIM:607915 SELENOI skos:exactMatch ncbigene:85465 semapv:UnspecifiedMatching -OMIM:607916 SELENOK skos:exactMatch hgnc.symbol:30394 semapv:UnspecifiedMatching -OMIM:607916 SELENOK skos:exactMatch hgnc.symbol:SELENOK semapv:UnspecifiedMatching -OMIM:607916 SELENOK skos:exactMatch ncbigene:58515 semapv:UnspecifiedMatching -OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:30395 semapv:UnspecifiedMatching -OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:SELENOO semapv:UnspecifiedMatching -OMIM:607917 SELENOO skos:exactMatch ncbigene:83642 semapv:UnspecifiedMatching -OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:30396 semapv:UnspecifiedMatching -OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:SELENOS semapv:UnspecifiedMatching -OMIM:607918 SELENOS skos:exactMatch ncbigene:55829 semapv:UnspecifiedMatching -OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:30399 semapv:UnspecifiedMatching -OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:SELENOV semapv:UnspecifiedMatching -OMIM:607919 SELENOV skos:exactMatch ncbigene:348303 semapv:UnspecifiedMatching -OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:18149 semapv:UnspecifiedMatching -OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:A4GALT semapv:UnspecifiedMatching -OMIM:607922 A4GALT skos:exactMatch ncbigene:53947 semapv:UnspecifiedMatching -OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:14986 semapv:UnspecifiedMatching -OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:SNAP91 semapv:UnspecifiedMatching -OMIM:607923 SNAP91 skos:exactMatch ncbigene:9892 semapv:UnspecifiedMatching -OMIM:607924 MALAT1 skos:exactMatch UMLS:C1537647 semapv:UnspecifiedMatching -OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:29665 semapv:UnspecifiedMatching -OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:MALAT1 semapv:UnspecifiedMatching -OMIM:607924 MALAT1 skos:exactMatch ncbigene:378938 semapv:UnspecifiedMatching -OMIM:607925 BTLA skos:exactMatch hgnc.symbol:21087 semapv:UnspecifiedMatching -OMIM:607925 BTLA skos:exactMatch hgnc.symbol:BTLA semapv:UnspecifiedMatching -OMIM:607925 BTLA skos:exactMatch ncbigene:151888 semapv:UnspecifiedMatching -OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:24972 semapv:UnspecifiedMatching -OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:HCFC2 semapv:UnspecifiedMatching -OMIM:607926 HCFC2 skos:exactMatch ncbigene:29915 semapv:UnspecifiedMatching -OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:20763 semapv:UnspecifiedMatching -OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:ANKFY1 semapv:UnspecifiedMatching -OMIM:607927 ANKFY1 skos:exactMatch ncbigene:51479 semapv:UnspecifiedMatching -OMIM:607928 WHRN skos:exactMatch hgnc.symbol:16361 semapv:UnspecifiedMatching -OMIM:607928 WHRN skos:exactMatch hgnc.symbol:WHRN semapv:UnspecifiedMatching -OMIM:607928 WHRN skos:exactMatch ncbigene:25861 semapv:UnspecifiedMatching -OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:21708 semapv:UnspecifiedMatching -OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:CCM2 semapv:UnspecifiedMatching -OMIM:607929 CCM2 skos:exactMatch ncbigene:83605 semapv:UnspecifiedMatching -OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:24435 semapv:UnspecifiedMatching -OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:CYTL1 semapv:UnspecifiedMatching -OMIM:607930 CYTL1 skos:exactMatch ncbigene:54360 semapv:UnspecifiedMatching -OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:31326 semapv:UnspecifiedMatching -OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:ATXN2L semapv:UnspecifiedMatching -OMIM:607931 ATXN2L skos:exactMatch ncbigene:11273 semapv:UnspecifiedMatching -OMIM:607933 SLC7A11 skos:exactMatch UMLS:C1420222 semapv:UnspecifiedMatching -OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:11059 semapv:UnspecifiedMatching -OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:SLC7A11 semapv:UnspecifiedMatching -OMIM:607933 SLC7A11 skos:exactMatch ncbigene:23657 semapv:UnspecifiedMatching -OMIM:607934 PADI1 skos:exactMatch hgnc.symbol:18367 semapv:UnspecifiedMatching -OMIM:607934 PADI1 skos:exactMatch hgnc.symbol:PADI1 semapv:UnspecifiedMatching -OMIM:607934 PADI1 skos:exactMatch ncbigene:29943 semapv:UnspecifiedMatching -OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:18341 semapv:UnspecifiedMatching -OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:PADI2 semapv:UnspecifiedMatching -OMIM:607935 PADI2 skos:exactMatch ncbigene:11240 semapv:UnspecifiedMatching -OMIM:607937 NANOG skos:exactMatch hgnc.symbol:20857 semapv:UnspecifiedMatching -OMIM:607937 NANOG skos:exactMatch hgnc.symbol:NANOG semapv:UnspecifiedMatching -OMIM:607937 NANOG skos:exactMatch ncbigene:79923 semapv:UnspecifiedMatching -OMIM:607938 NTM skos:exactMatch hgnc.symbol:17941 semapv:UnspecifiedMatching -OMIM:607938 NTM skos:exactMatch hgnc.symbol:NTM semapv:UnspecifiedMatching -OMIM:607938 NTM skos:exactMatch ncbigene:50863 semapv:UnspecifiedMatching -OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:20376 semapv:UnspecifiedMatching -OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:SUMF1 semapv:UnspecifiedMatching -OMIM:607939 SUMF1 skos:exactMatch ncbigene:285362 semapv:UnspecifiedMatching -OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:20415 semapv:UnspecifiedMatching -OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:SUMF2 semapv:UnspecifiedMatching -OMIM:607940 SUMF2 skos:exactMatch ncbigene:25870 semapv:UnspecifiedMatching -OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:30034 semapv:UnspecifiedMatching -OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:PIK3AP1 semapv:UnspecifiedMatching -OMIM:607942 PIK3AP1 skos:exactMatch ncbigene:118788 semapv:UnspecifiedMatching -OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:23181 semapv:UnspecifiedMatching -OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:RASA4 semapv:UnspecifiedMatching -OMIM:607943 RASA4 skos:exactMatch ncbigene:10156 semapv:UnspecifiedMatching -OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:24040 semapv:UnspecifiedMatching -OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:ADIPOR1 semapv:UnspecifiedMatching -OMIM:607945 ADIPOR1 skos:exactMatch ncbigene:51094 semapv:UnspecifiedMatching -OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:24041 semapv:UnspecifiedMatching -OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:ADIPOR2 semapv:UnspecifiedMatching -OMIM:607946 ADIPOR2 skos:exactMatch ncbigene:79602 semapv:UnspecifiedMatching -OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:18893 semapv:UnspecifiedMatching -OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:KCNRG semapv:UnspecifiedMatching -OMIM:607947 KCNRG skos:exactMatch ncbigene:283518 semapv:UnspecifiedMatching -OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:17910 semapv:UnspecifiedMatching -OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:PRSS50 semapv:UnspecifiedMatching -OMIM:607950 testis-specific protease 50 skos:exactMatch ncbigene:29122 semapv:UnspecifiedMatching -OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:30794 semapv:UnspecifiedMatching -OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:CEP57 semapv:UnspecifiedMatching -OMIM:607951 CEP57 skos:exactMatch ncbigene:9702 semapv:UnspecifiedMatching -OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:11044 semapv:UnspecifiedMatching -OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:SLC6A11 semapv:UnspecifiedMatching -OMIM:607952 SLC6A11 skos:exactMatch ncbigene:6538 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch UMLS:C1539921 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:29868 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:TAGLN3 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch ncbigene:29114 semapv:UnspecifiedMatching -OMIM:607954 RANGRF skos:exactMatch UMLS:C1842760 semapv:UnspecifiedMatching -OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:17679 semapv:UnspecifiedMatching -OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:RANGRF semapv:UnspecifiedMatching -OMIM:607954 RANGRF skos:exactMatch ncbigene:29098 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch UMLS:C1426071 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch UMLS:C2675711 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch UMLS:C5193062 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:19182 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:SASH1 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch ncbigene:23328 semapv:UnspecifiedMatching -OMIM:607956 MED8 skos:exactMatch hgnc.symbol:19971 semapv:UnspecifiedMatching -OMIM:607956 MED8 skos:exactMatch hgnc.symbol:MED8 semapv:UnspecifiedMatching -OMIM:607956 MED8 skos:exactMatch ncbigene:112950 semapv:UnspecifiedMatching -OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:19341 semapv:UnspecifiedMatching -OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:CAMK1D semapv:UnspecifiedMatching -OMIM:607957 CAMK1D skos:exactMatch ncbigene:57118 semapv:UnspecifiedMatching -OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:19666 semapv:UnspecifiedMatching -OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:STXBP6 semapv:UnspecifiedMatching -OMIM:607958 STXBP6 skos:exactMatch ncbigene:29091 semapv:UnspecifiedMatching -OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:11058 semapv:UnspecifiedMatching -OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:SLC7A10 semapv:UnspecifiedMatching -OMIM:607959 SLC7A10 skos:exactMatch ncbigene:56301 semapv:UnspecifiedMatching -OMIM:607960 DHX32 skos:exactMatch UMLS:C1424503 semapv:UnspecifiedMatching -OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:16717 semapv:UnspecifiedMatching -OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:DHX32 semapv:UnspecifiedMatching -OMIM:607960 DHX32 skos:exactMatch ncbigene:55760 semapv:UnspecifiedMatching -OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:10741 semapv:UnspecifiedMatching -OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:SEMA7A semapv:UnspecifiedMatching -OMIM:607961 SEMA7A skos:exactMatch ncbigene:8482 semapv:UnspecifiedMatching -OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:31605 semapv:UnspecifiedMatching -OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:MIR23A semapv:UnspecifiedMatching -OMIM:607962 MIR23A skos:exactMatch ncbigene:407010 semapv:UnspecifiedMatching -OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:15774 semapv:UnspecifiedMatching -OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:MBD3L1 semapv:UnspecifiedMatching -OMIM:607963 MBD3L1 skos:exactMatch ncbigene:85509 semapv:UnspecifiedMatching -OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:18532 semapv:UnspecifiedMatching -OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:MBD3L2 semapv:UnspecifiedMatching -OMIM:607964 MBD3L2 skos:exactMatch ncbigene:125997 semapv:UnspecifiedMatching -OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:30000 semapv:UnspecifiedMatching -OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:BBS9 semapv:UnspecifiedMatching -OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch ncbigene:27241 semapv:UnspecifiedMatching -OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:13659 semapv:UnspecifiedMatching -OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:CLK4 semapv:UnspecifiedMatching -OMIM:607969 CLK4 skos:exactMatch ncbigene:57396 semapv:UnspecifiedMatching -OMIM:607970 GPR135 skos:exactMatch UMLS:C1426588 semapv:UnspecifiedMatching -OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:19991 semapv:UnspecifiedMatching -OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:GPR135 semapv:UnspecifiedMatching -OMIM:607970 GPR135 skos:exactMatch ncbigene:64582 semapv:UnspecifiedMatching -OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:13621 semapv:UnspecifiedMatching -OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:SLC6A15 semapv:UnspecifiedMatching -OMIM:607971 SLC6A15 skos:exactMatch ncbigene:55117 semapv:UnspecifiedMatching -OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:13622 semapv:UnspecifiedMatching -OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:SLC6A16 semapv:UnspecifiedMatching -OMIM:607972 SLC6A16 skos:exactMatch ncbigene:28968 semapv:UnspecifiedMatching -OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:13823 semapv:UnspecifiedMatching -OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:NETO1 semapv:UnspecifiedMatching -OMIM:607973 NETO1 skos:exactMatch ncbigene:81832 semapv:UnspecifiedMatching -OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:14644 semapv:UnspecifiedMatching -OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:NETO2 semapv:UnspecifiedMatching -OMIM:607974 NETO2 skos:exactMatch ncbigene:81831 semapv:UnspecifiedMatching -OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:30093 semapv:UnspecifiedMatching -OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:OSGIN1 semapv:UnspecifiedMatching -OMIM:607975 OSGIN1 skos:exactMatch ncbigene:29948 semapv:UnspecifiedMatching -OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:16232 semapv:UnspecifiedMatching -OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:COX4I2 semapv:UnspecifiedMatching -OMIM:607976 COX4I2 skos:exactMatch ncbigene:84701 semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch UMLS:C1427267 semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch hgnc.symbol:21041 semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch hgnc.symbol:HECA semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch ncbigene:51696 semapv:UnspecifiedMatching -OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:10528 semapv:UnspecifiedMatching -OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:SAMSN1 semapv:UnspecifiedMatching -OMIM:607978 SAMSN1 skos:exactMatch ncbigene:64092 semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch UMLS:C1422627 semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch hgnc.symbol:14408 semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch hgnc.symbol:SERHL semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch ncbigene:94009 semapv:UnspecifiedMatching -OMIM:607980 TOMM7 skos:exactMatch UMLS:C1427672 semapv:UnspecifiedMatching -OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:21648 semapv:UnspecifiedMatching -OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:TOMM7 semapv:UnspecifiedMatching -OMIM:607980 TOMM7 skos:exactMatch ncbigene:54543 semapv:UnspecifiedMatching -OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:17623 semapv:UnspecifiedMatching -OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:NUB1 semapv:UnspecifiedMatching -OMIM:607981 NUB1 skos:exactMatch ncbigene:51667 semapv:UnspecifiedMatching -OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:14372 semapv:UnspecifiedMatching -OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:SCYL1 semapv:UnspecifiedMatching -OMIM:607982 SCYL1 skos:exactMatch ncbigene:57410 semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch UMLS:C1822658 semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch hgnc.symbol:25676 semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch hgnc.symbol:GORAB semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch ncbigene:92344 semapv:UnspecifiedMatching -OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:15533 semapv:UnspecifiedMatching -OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:SPRY4 semapv:UnspecifiedMatching -OMIM:607984 SPRY4 skos:exactMatch ncbigene:81848 semapv:UnspecifiedMatching -OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:17378 semapv:UnspecifiedMatching -OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:NAGPA semapv:UnspecifiedMatching -OMIM:607985 NAGPA skos:exactMatch ncbigene:51172 semapv:UnspecifiedMatching -OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:18901 semapv:UnspecifiedMatching -OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:S100A14 semapv:UnspecifiedMatching -OMIM:607986 S100A14 skos:exactMatch ncbigene:57402 semapv:UnspecifiedMatching -OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:24637 semapv:UnspecifiedMatching -OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:DNAJC10 semapv:UnspecifiedMatching -OMIM:607987 DNAJC10 skos:exactMatch ncbigene:54431 semapv:UnspecifiedMatching -OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:13564 semapv:UnspecifiedMatching -OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:SPOCK2 semapv:UnspecifiedMatching -OMIM:607988 SPOCK2 skos:exactMatch ncbigene:9806 semapv:UnspecifiedMatching -OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:13565 semapv:UnspecifiedMatching -OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:SPOCK3 semapv:UnspecifiedMatching -OMIM:607989 SPOCK3 skos:exactMatch ncbigene:50859 semapv:UnspecifiedMatching -OMIM:607990 UHRF1 skos:exactMatch UMLS:C1421348 semapv:UnspecifiedMatching -OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:12556 semapv:UnspecifiedMatching -OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:UHRF1 semapv:UnspecifiedMatching -OMIM:607990 UHRF1 skos:exactMatch ncbigene:29128 semapv:UnspecifiedMatching -OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:11070 semapv:UnspecifiedMatching -OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:SLC8A3 semapv:UnspecifiedMatching -OMIM:607991 SLC8A3 skos:exactMatch ncbigene:6547 semapv:UnspecifiedMatching -OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:18643 semapv:UnspecifiedMatching -OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:SUGP1 semapv:UnspecifiedMatching -OMIM:607992 SUGP1 skos:exactMatch ncbigene:57794 semapv:UnspecifiedMatching -OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:18641 semapv:UnspecifiedMatching -OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:SUGP2 semapv:UnspecifiedMatching -OMIM:607993 SUGP2 skos:exactMatch ncbigene:10147 semapv:UnspecifiedMatching -OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:30654 semapv:UnspecifiedMatching -OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:XRN1 semapv:UnspecifiedMatching -OMIM:607994 XRN1 skos:exactMatch ncbigene:54464 semapv:UnspecifiedMatching -OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:12570 semapv:UnspecifiedMatching -OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:UNC93A semapv:UnspecifiedMatching -OMIM:607995 UNC93A skos:exactMatch ncbigene:54346 semapv:UnspecifiedMatching -OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:30099 semapv:UnspecifiedMatching -OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:NPB semapv:UnspecifiedMatching -OMIM:607996 preproneuropeptide B skos:exactMatch ncbigene:256933 semapv:UnspecifiedMatching -OMIM:607997 NPW skos:exactMatch hgnc.symbol:30509 semapv:UnspecifiedMatching -OMIM:607997 NPW skos:exactMatch hgnc.symbol:NPW semapv:UnspecifiedMatching -OMIM:607997 NPW skos:exactMatch ncbigene:283869 semapv:UnspecifiedMatching -OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:2073 semapv:UnspecifiedMatching -OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:TPP1 semapv:UnspecifiedMatching -OMIM:607998 TPP1 skos:exactMatch ncbigene:1200 semapv:UnspecifiedMatching -OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:19088 semapv:UnspecifiedMatching -OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:ASH1L semapv:UnspecifiedMatching -OMIM:607999 ASH1L skos:exactMatch ncbigene:55870 semapv:UnspecifiedMatching -OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:30782 semapv:UnspecifiedMatching -OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:NAA15 semapv:UnspecifiedMatching -OMIM:608000 NAA15 skos:exactMatch ncbigene:80155 semapv:UnspecifiedMatching -OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:7907 semapv:UnspecifiedMatching -OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:NPHP3 semapv:UnspecifiedMatching -OMIM:608002 NPHP3 skos:exactMatch ncbigene:27031 semapv:UnspecifiedMatching -OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:19006 semapv:UnspecifiedMatching -OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:HIPK1 semapv:UnspecifiedMatching -OMIM:608003 HIPK1 skos:exactMatch ncbigene:204851 semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch UMLS:C1538057 semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:29805 semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:NFKBIZ semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch ncbigene:64332 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch UMLS:C1822725 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:24624 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:SIL1 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch ncbigene:64374 semapv:UnspecifiedMatching -OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:6648 semapv:UnspecifiedMatching -OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:LMOD2 semapv:UnspecifiedMatching -OMIM:608006 LMOD2 skos:exactMatch ncbigene:442721 semapv:UnspecifiedMatching -OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:19238 semapv:UnspecifiedMatching -OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:PLEK2 semapv:UnspecifiedMatching -OMIM:608007 PLEK2 skos:exactMatch ncbigene:26499 semapv:UnspecifiedMatching -OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:534 semapv:UnspecifiedMatching -OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:ANXA10 semapv:UnspecifiedMatching -OMIM:608008 ANXA10 skos:exactMatch ncbigene:11199 semapv:UnspecifiedMatching -OMIM:608009 AK5 skos:exactMatch hgnc.symbol:365 semapv:UnspecifiedMatching -OMIM:608009 AK5 skos:exactMatch hgnc.symbol:AK5 semapv:UnspecifiedMatching -OMIM:608009 AK5 skos:exactMatch ncbigene:26289 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1417777 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1842722 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch UMLS:C4693795 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:7898 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:NPC1L1 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch ncbigene:29881 semapv:UnspecifiedMatching -OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:29931 semapv:UnspecifiedMatching -OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:GNL3 semapv:UnspecifiedMatching -OMIM:608011 GNL3 skos:exactMatch ncbigene:26354 semapv:UnspecifiedMatching -OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:14180 semapv:UnspecifiedMatching -OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:PDIA2 semapv:UnspecifiedMatching -OMIM:608012 PDIA2 skos:exactMatch ncbigene:64714 semapv:UnspecifiedMatching -OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching -OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:85212 semapv:UnspecifiedMatching -OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch UMLS:C1428937 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:30171 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:HSPB8 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch ncbigene:26353 semapv:UnspecifiedMatching -OMIM:608015 TSKU skos:exactMatch hgnc.symbol:28850 semapv:UnspecifiedMatching -OMIM:608015 TSKU skos:exactMatch hgnc.symbol:TSKU semapv:UnspecifiedMatching -OMIM:608015 TSKU skos:exactMatch ncbigene:25987 semapv:UnspecifiedMatching -OMIM:608016 COA4 skos:exactMatch UMLS:C1824732 semapv:UnspecifiedMatching -OMIM:608016 COA4 skos:exactMatch hgnc.symbol:24604 semapv:UnspecifiedMatching -OMIM:608016 COA4 skos:exactMatch hgnc.symbol:COA4 semapv:UnspecifiedMatching -OMIM:608016 COA4 skos:exactMatch ncbigene:51287 semapv:UnspecifiedMatching -OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:17865 semapv:UnspecifiedMatching -OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:FAM162A semapv:UnspecifiedMatching -OMIM:608017 FAM162A skos:exactMatch ncbigene:26355 semapv:UnspecifiedMatching -OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:15475 semapv:UnspecifiedMatching -OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:PRSS27 semapv:UnspecifiedMatching -OMIM:608018 PRSS27 skos:exactMatch ncbigene:83886 semapv:UnspecifiedMatching -OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:19315 semapv:UnspecifiedMatching -OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:TNIP3 semapv:UnspecifiedMatching -OMIM:608019 TNIP3 skos:exactMatch ncbigene:79931 semapv:UnspecifiedMatching -OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:8044 semapv:UnspecifiedMatching -OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:NUCB2 semapv:UnspecifiedMatching -OMIM:608020 NUCB2 skos:exactMatch ncbigene:4925 semapv:UnspecifiedMatching -OMIM:608021 WFIKKN1 skos:exactMatch hgnc.symbol:30912 semapv:UnspecifiedMatching -OMIM:608021 WFIKKN1 skos:exactMatch hgnc.symbol:WFIKKN1 semapv:UnspecifiedMatching -OMIM:608021 WFIKKN1 skos:exactMatch ncbigene:117166 semapv:UnspecifiedMatching -OMIM:608023 DDX56 skos:exactMatch UMLS:C1425370 semapv:UnspecifiedMatching -OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:18193 semapv:UnspecifiedMatching -OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:DDX56 semapv:UnspecifiedMatching -OMIM:608023 DDX56 skos:exactMatch ncbigene:54606 semapv:UnspecifiedMatching -OMIM:608024 ECI2 skos:exactMatch UMLS:C1422782 semapv:UnspecifiedMatching -OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:14601 semapv:UnspecifiedMatching -OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:ECI2 semapv:UnspecifiedMatching -OMIM:608024 ECI2 skos:exactMatch ncbigene:10455 semapv:UnspecifiedMatching -OMIM:608025 NBAS skos:exactMatch hgnc.symbol:15625 semapv:UnspecifiedMatching -OMIM:608025 NBAS skos:exactMatch hgnc.symbol:NBAS semapv:UnspecifiedMatching -OMIM:608025 NBAS skos:exactMatch ncbigene:51594 semapv:UnspecifiedMatching -OMIM:608034 ASPA skos:exactMatch hgnc.symbol:756 semapv:UnspecifiedMatching -OMIM:608034 ASPA skos:exactMatch hgnc.symbol:ASPA semapv:UnspecifiedMatching -OMIM:608034 ASPA skos:exactMatch ncbigene:443 semapv:UnspecifiedMatching -OMIM:608036 iia 2 diabetes mellitus 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching -OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:29270 semapv:UnspecifiedMatching -OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:CHPF2 semapv:UnspecifiedMatching -OMIM:608037 CHPF2 skos:exactMatch ncbigene:54480 semapv:UnspecifiedMatching -OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:15916 semapv:UnspecifiedMatching -OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:PAK5 semapv:UnspecifiedMatching -OMIM:608038 PAK5 skos:exactMatch ncbigene:57144 semapv:UnspecifiedMatching -OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:22988 semapv:UnspecifiedMatching -OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:SPATA9 semapv:UnspecifiedMatching -OMIM:608039 SPATA9 skos:exactMatch ncbigene:83890 semapv:UnspecifiedMatching -OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:21424 semapv:UnspecifiedMatching -OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:IFT74 semapv:UnspecifiedMatching -OMIM:608040 IFT74 skos:exactMatch ncbigene:80173 semapv:UnspecifiedMatching -OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:21732 semapv:UnspecifiedMatching -OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:ANTXR2 semapv:UnspecifiedMatching -OMIM:608041 ANTXR2 skos:exactMatch ncbigene:118429 semapv:UnspecifiedMatching -OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:15584 semapv:UnspecifiedMatching -OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:SYTL1 semapv:UnspecifiedMatching -OMIM:608042 SYTL1 skos:exactMatch ncbigene:84958 semapv:UnspecifiedMatching -OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:19873 semapv:UnspecifiedMatching -OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:GALNT10 semapv:UnspecifiedMatching -OMIM:608043 GALNT10 skos:exactMatch ncbigene:55568 semapv:UnspecifiedMatching -OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:19119 semapv:UnspecifiedMatching -OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:SLC5A8 semapv:UnspecifiedMatching -OMIM:608044 SLC5A8 skos:exactMatch ncbigene:160728 semapv:UnspecifiedMatching -OMIM:608046 SYVN1 skos:exactMatch UMLS:C1539907 semapv:UnspecifiedMatching -OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:20738 semapv:UnspecifiedMatching -OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:SYVN1 semapv:UnspecifiedMatching -OMIM:608046 SYVN1 skos:exactMatch ncbigene:84447 semapv:UnspecifiedMatching -OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:13478 semapv:UnspecifiedMatching -OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:UBE3B semapv:UnspecifiedMatching -OMIM:608047 UBE3B skos:exactMatch ncbigene:89910 semapv:UnspecifiedMatching -OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:19336 semapv:UnspecifiedMatching -OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:SHPRH semapv:UnspecifiedMatching -OMIM:608048 SHPRH skos:exactMatch ncbigene:257218 semapv:UnspecifiedMatching -OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:11995 semapv:UnspecifiedMatching -OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:TOR1B semapv:UnspecifiedMatching -OMIM:608050 TOR1B skos:exactMatch ncbigene:27348 semapv:UnspecifiedMatching -OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:11996 semapv:UnspecifiedMatching -OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:TOR2A semapv:UnspecifiedMatching -OMIM:608052 TOR2A skos:exactMatch ncbigene:27433 semapv:UnspecifiedMatching -OMIM:608053 ETFA skos:exactMatch hgnc.symbol:3481 semapv:UnspecifiedMatching -OMIM:608053 ETFA skos:exactMatch hgnc.symbol:ETFA semapv:UnspecifiedMatching -OMIM:608053 ETFA skos:exactMatch ncbigene:2108 semapv:UnspecifiedMatching -OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:2611 semapv:UnspecifiedMatching -OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:CYP2A7 semapv:UnspecifiedMatching -OMIM:608054 CYP2A7 skos:exactMatch ncbigene:1549 semapv:UnspecifiedMatching -OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:2608 semapv:UnspecifiedMatching -OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:CYP2A13 semapv:UnspecifiedMatching -OMIM:608055 CYP2A13 skos:exactMatch ncbigene:1553 semapv:UnspecifiedMatching -OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:28875 semapv:UnspecifiedMatching -OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:DNASE2B semapv:UnspecifiedMatching -OMIM:608057 DNASE2B skos:exactMatch ncbigene:58511 semapv:UnspecifiedMatching -OMIM:608058 G6PC2 skos:exactMatch UMLS:C1428751 semapv:UnspecifiedMatching -OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:28906 semapv:UnspecifiedMatching -OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:G6PC2 semapv:UnspecifiedMatching -OMIM:608058 G6PC2 skos:exactMatch ncbigene:57818 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch UMLS:C1423880 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch UMLS:C4017128 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch hgnc.symbol:15977 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch hgnc.symbol:HES7 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch ncbigene:84667 semapv:UnspecifiedMatching -OMIM:608060 HES4 skos:exactMatch UMLS:C1539667 semapv:UnspecifiedMatching -OMIM:608060 HES4 skos:exactMatch hgnc.symbol:24149 semapv:UnspecifiedMatching -OMIM:608060 HES4 skos:exactMatch hgnc.symbol:HES4 semapv:UnspecifiedMatching -OMIM:608060 HES4 skos:exactMatch ncbigene:57801 semapv:UnspecifiedMatching -OMIM:608061 TOMM40 skos:exactMatch UMLS:C1425229 semapv:UnspecifiedMatching -OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:18001 semapv:UnspecifiedMatching -OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:TOMM40 semapv:UnspecifiedMatching -OMIM:608061 TOMM40 skos:exactMatch ncbigene:10452 semapv:UnspecifiedMatching -OMIM:608062 DCDC1 skos:exactMatch UMLS:C1427037 semapv:UnspecifiedMatching -OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:20625 semapv:UnspecifiedMatching -OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:DCDC1 semapv:UnspecifiedMatching -OMIM:608062 DCDC1 skos:exactMatch ncbigene:341019 semapv:UnspecifiedMatching -OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:6356 semapv:UnspecifiedMatching -OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:KLHL5 semapv:UnspecifiedMatching -OMIM:608064 KLHL5 skos:exactMatch ncbigene:51088 semapv:UnspecifiedMatching -OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:14679 semapv:UnspecifiedMatching -OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:SLC38A4 semapv:UnspecifiedMatching -OMIM:608065 SLC38A4 skos:exactMatch ncbigene:55089 semapv:UnspecifiedMatching -OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:21605 semapv:UnspecifiedMatching -OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:SAFB2 semapv:UnspecifiedMatching -OMIM:608066 SAFB2 skos:exactMatch ncbigene:9667 semapv:UnspecifiedMatching -OMIM:608067 RFWD2 skos:exactMatch UMLS:C1538830 semapv:UnspecifiedMatching -OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:17440 semapv:UnspecifiedMatching -OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:COP1 semapv:UnspecifiedMatching -OMIM:608067 RFWD2 skos:exactMatch ncbigene:64326 semapv:UnspecifiedMatching -OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch Orphanet:3243 semapv:UnspecifiedMatching -OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching -OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:18185 semapv:UnspecifiedMatching -OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:ERRFI1 semapv:UnspecifiedMatching -OMIM:608069 ERRFI1 skos:exactMatch ncbigene:54206 semapv:UnspecifiedMatching -OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:13744 semapv:UnspecifiedMatching -OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:HERPUD1 semapv:UnspecifiedMatching -OMIM:608070 HERPUD1 skos:exactMatch ncbigene:9709 semapv:UnspecifiedMatching -OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:10847 semapv:UnspecifiedMatching -OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:FBXW4 semapv:UnspecifiedMatching -OMIM:608071 FBXW4 skos:exactMatch ncbigene:6468 semapv:UnspecifiedMatching -OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:21576 semapv:UnspecifiedMatching -OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:NHLRC1 semapv:UnspecifiedMatching -OMIM:608072 NHLRC1 skos:exactMatch ncbigene:378884 semapv:UnspecifiedMatching -OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:7930 semapv:UnspecifiedMatching -OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:NPM2 semapv:UnspecifiedMatching -OMIM:608073 NPM2 skos:exactMatch ncbigene:10361 semapv:UnspecifiedMatching -OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:8766 semapv:UnspecifiedMatching -OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:PDCD6IP semapv:UnspecifiedMatching -OMIM:608074 PDCD6IP skos:exactMatch ncbigene:10015 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch UMLS:C1426095 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:19218 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:PLCZ1 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch ncbigene:89869 semapv:UnspecifiedMatching -OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:11940 semapv:UnspecifiedMatching -OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:TNK1 semapv:UnspecifiedMatching -OMIM:608076 TNK1 skos:exactMatch ncbigene:8711 semapv:UnspecifiedMatching -OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:8538 semapv:UnspecifiedMatching -OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:P2RX6 semapv:UnspecifiedMatching -OMIM:608077 P2RXL1 skos:exactMatch ncbigene:9127 semapv:UnspecifiedMatching -OMIM:608079 ELAC1 skos:exactMatch UMLS:C1422479 semapv:UnspecifiedMatching -OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:14197 semapv:UnspecifiedMatching -OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:ELAC1 semapv:UnspecifiedMatching -OMIM:608079 ELAC1 skos:exactMatch ncbigene:55520 semapv:UnspecifiedMatching -OMIM:608080 MRO skos:exactMatch hgnc.symbol:24121 semapv:UnspecifiedMatching -OMIM:608080 MRO skos:exactMatch hgnc.symbol:MRO semapv:UnspecifiedMatching -OMIM:608080 MRO skos:exactMatch ncbigene:83876 semapv:UnspecifiedMatching -OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:17167 semapv:UnspecifiedMatching -OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:SYT15 semapv:UnspecifiedMatching -OMIM:608081 SYT15 skos:exactMatch ncbigene:83849 semapv:UnspecifiedMatching -OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:12845 semapv:UnspecifiedMatching -OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:YPEL1 semapv:UnspecifiedMatching -OMIM:608082 YPEL1 skos:exactMatch ncbigene:29799 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C1412477 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C1720779 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C3889891 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017129 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017130 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017131 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017132 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017133 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017134 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017135 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017136 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017137 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017138 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch UMLS:C4017139 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:609 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:APOC2 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch ncbigene:344 semapv:UnspecifiedMatching -OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:23237 semapv:UnspecifiedMatching -OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:GIMAP1 semapv:UnspecifiedMatching -OMIM:608084 GIMAP1 skos:exactMatch ncbigene:170575 semapv:UnspecifiedMatching -OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:21789 semapv:UnspecifiedMatching -OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:GIMAP2 semapv:UnspecifiedMatching -OMIM:608085 GIMAP2 skos:exactMatch ncbigene:26157 semapv:UnspecifiedMatching -OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:18005 semapv:UnspecifiedMatching -OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:GIMAP5 semapv:UnspecifiedMatching -OMIM:608086 GIMAP5 skos:exactMatch ncbigene:55340 semapv:UnspecifiedMatching -OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:21872 semapv:UnspecifiedMatching -OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:GIMAP4 semapv:UnspecifiedMatching -OMIM:608087 GIMAP4 skos:exactMatch ncbigene:55303 semapv:UnspecifiedMatching -OMIM:608089 endometrial cancer skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching -OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:17055 semapv:UnspecifiedMatching -OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:MLXIP semapv:UnspecifiedMatching -OMIM:608090 MLXIP skos:exactMatch ncbigene:22877 semapv:UnspecifiedMatching -OMIM:608092 PALLD skos:exactMatch hgnc.symbol:17068 semapv:UnspecifiedMatching -OMIM:608092 PALLD skos:exactMatch hgnc.symbol:PALLD semapv:UnspecifiedMatching -OMIM:608092 PALLD skos:exactMatch ncbigene:23022 semapv:UnspecifiedMatching -OMIM:608094 SLC37A1 skos:exactMatch UMLS:C1420190 semapv:UnspecifiedMatching -OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:11024 semapv:UnspecifiedMatching -OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:SLC37A1 semapv:UnspecifiedMatching -OMIM:608094 SLC37A1 skos:exactMatch ncbigene:54020 semapv:UnspecifiedMatching -OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:23136 semapv:UnspecifiedMatching -OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:SCNM1 semapv:UnspecifiedMatching -OMIM:608095 SCNM1 skos:exactMatch ncbigene:79005 semapv:UnspecifiedMatching -OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:16287 semapv:UnspecifiedMatching -OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:NFU1 semapv:UnspecifiedMatching -OMIM:608100 NFU1 skos:exactMatch ncbigene:27247 semapv:UnspecifiedMatching -OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:30616 semapv:UnspecifiedMatching -OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:H1-9P semapv:UnspecifiedMatching -OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch ncbigene:373861 semapv:UnspecifiedMatching -OMIM:608102 CLN5 skos:exactMatch UMLS:C1413497 semapv:UnspecifiedMatching -OMIM:608102 CLN5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching -OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:2076 semapv:UnspecifiedMatching -OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:CLN5 semapv:UnspecifiedMatching -OMIM:608102 CLN5 skos:exactMatch ncbigene:1203 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch UMLS:C1427957 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch UMLS:C4694013 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch UMLS:C4694014 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:23161 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:ALG8 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch ncbigene:79053 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C1417104 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch hgnc.symbol:6998 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch hgnc.symbol:MEFV semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch ncbigene:4210 semapv:UnspecifiedMatching -OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:1873 semapv:UnspecifiedMatching -OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:CFDP1 semapv:UnspecifiedMatching -OMIM:608108 CFDP1 skos:exactMatch ncbigene:10428 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch UMLS:C1423539 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch UMLS:C4551958 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:15508 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:PUS1 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch ncbigene:80324 semapv:UnspecifiedMatching -OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:16061 semapv:UnspecifiedMatching -OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:PAK6 semapv:UnspecifiedMatching -OMIM:608110 PAK6 skos:exactMatch ncbigene:56924 semapv:UnspecifiedMatching -OMIM:608111 FANCL skos:exactMatch hgnc.symbol:20748 semapv:UnspecifiedMatching -OMIM:608111 FANCL skos:exactMatch hgnc.symbol:FANCL semapv:UnspecifiedMatching -OMIM:608111 FANCL skos:exactMatch ncbigene:55120 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch UMLS:C1823479 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:29947 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:TRAK1 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch ncbigene:22906 semapv:UnspecifiedMatching -OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:14075 semapv:UnspecifiedMatching -OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:SGCZ semapv:UnspecifiedMatching -OMIM:608113 SGCZ skos:exactMatch ncbigene:137868 semapv:UnspecifiedMatching -OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:16486 semapv:UnspecifiedMatching -OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:ADAP1 semapv:UnspecifiedMatching -OMIM:608114 CENTA1 skos:exactMatch ncbigene:11033 semapv:UnspecifiedMatching -OMIM:608116 HHATL skos:exactMatch hgnc.symbol:13242 semapv:UnspecifiedMatching -OMIM:608116 HHATL skos:exactMatch hgnc.symbol:HHATL semapv:UnspecifiedMatching -OMIM:608116 HHATL skos:exactMatch ncbigene:57467 semapv:UnspecifiedMatching -OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:15580 semapv:UnspecifiedMatching -OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:PDE4DIP semapv:UnspecifiedMatching -OMIM:608117 PDE4DIP skos:exactMatch ncbigene:9659 semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching -OMIM:608120 PARVA skos:exactMatch hgnc.symbol:14652 semapv:UnspecifiedMatching -OMIM:608120 PARVA skos:exactMatch hgnc.symbol:PARVA semapv:UnspecifiedMatching -OMIM:608120 PARVA skos:exactMatch ncbigene:55742 semapv:UnspecifiedMatching -OMIM:608121 PARVB skos:exactMatch UMLS:C1422816 semapv:UnspecifiedMatching -OMIM:608121 PARVB skos:exactMatch hgnc.symbol:14653 semapv:UnspecifiedMatching -OMIM:608121 PARVB skos:exactMatch hgnc.symbol:PARVB semapv:UnspecifiedMatching -OMIM:608121 PARVB skos:exactMatch ncbigene:29780 semapv:UnspecifiedMatching -OMIM:608122 PARVG skos:exactMatch hgnc.symbol:14654 semapv:UnspecifiedMatching -OMIM:608122 PARVG skos:exactMatch hgnc.symbol:PARVG semapv:UnspecifiedMatching -OMIM:608122 PARVG skos:exactMatch ncbigene:64098 semapv:UnspecifiedMatching -OMIM:608123 ACOT8 skos:exactMatch hgnc.symbol:15919 semapv:UnspecifiedMatching -OMIM:608123 ACOT8 skos:exactMatch hgnc.symbol:ACOT8 semapv:UnspecifiedMatching -OMIM:608123 ACOT8 skos:exactMatch ncbigene:10005 semapv:UnspecifiedMatching -OMIM:608124 XYLT1 skos:exactMatch hgnc.symbol:15516 semapv:UnspecifiedMatching -OMIM:608124 XYLT1 skos:exactMatch hgnc.symbol:XYLT1 semapv:UnspecifiedMatching -OMIM:608124 XYLT1 skos:exactMatch ncbigene:64131 semapv:UnspecifiedMatching -OMIM:608125 XYLT2 skos:exactMatch hgnc.symbol:15517 semapv:UnspecifiedMatching -OMIM:608125 XYLT2 skos:exactMatch hgnc.symbol:XYLT2 semapv:UnspecifiedMatching -OMIM:608125 XYLT2 skos:exactMatch ncbigene:64132 semapv:UnspecifiedMatching -OMIM:608126 WDHD1 skos:exactMatch UMLS:C1427963 semapv:UnspecifiedMatching -OMIM:608126 WDHD1 skos:exactMatch hgnc.symbol:23170 semapv:UnspecifiedMatching -OMIM:608126 WDHD1 skos:exactMatch hgnc.symbol:WDHD1 semapv:UnspecifiedMatching -OMIM:608126 WDHD1 skos:exactMatch ncbigene:11169 semapv:UnspecifiedMatching -OMIM:608127 PBX4 skos:exactMatch hgnc.symbol:13403 semapv:UnspecifiedMatching -OMIM:608127 PBX4 skos:exactMatch hgnc.symbol:PBX4 semapv:UnspecifiedMatching -OMIM:608127 PBX4 skos:exactMatch ncbigene:80714 semapv:UnspecifiedMatching -OMIM:608129 UBAC1 skos:exactMatch hgnc.symbol:30221 semapv:UnspecifiedMatching -OMIM:608129 UBAC1 skos:exactMatch hgnc.symbol:UBAC1 semapv:UnspecifiedMatching -OMIM:608129 UBAC1 skos:exactMatch ncbigene:10422 semapv:UnspecifiedMatching -OMIM:608130 NUAK1 skos:exactMatch hgnc.symbol:14311 semapv:UnspecifiedMatching -OMIM:608130 NUAK1 skos:exactMatch hgnc.symbol:NUAK1 semapv:UnspecifiedMatching -OMIM:608130 NUAK1 skos:exactMatch ncbigene:9891 semapv:UnspecifiedMatching -OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:29558 semapv:UnspecifiedMatching -OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:NUAK2 semapv:UnspecifiedMatching -OMIM:608131 NUAK2 skos:exactMatch ncbigene:81788 semapv:UnspecifiedMatching -OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:20087 semapv:UnspecifiedMatching -OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:TTC8 semapv:UnspecifiedMatching -OMIM:608132 TTC8 skos:exactMatch ncbigene:123016 semapv:UnspecifiedMatching -OMIM:608134 PALM skos:exactMatch hgnc.symbol:8594 semapv:UnspecifiedMatching -OMIM:608134 PALM skos:exactMatch hgnc.symbol:PALM semapv:UnspecifiedMatching -OMIM:608134 PALM skos:exactMatch ncbigene:5064 semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch UMLS:C1423015 semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch UMLS:C2675551 semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch UMLS:C2675609 semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch hgnc.symbol:14872 semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch hgnc.symbol:ASPN semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch ncbigene:54829 semapv:UnspecifiedMatching -OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:14103 semapv:UnspecifiedMatching -OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:ARHGEF10 semapv:UnspecifiedMatching -OMIM:608136 ARHGEF10 skos:exactMatch ncbigene:9639 semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch UMLS:C1428897 semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch UMLS:C4017142 semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch UMLS:C4017143 semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch hgnc.symbol:29843 semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch hgnc.symbol:NSMF semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch ncbigene:26012 semapv:UnspecifiedMatching -OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:8767 semapv:UnspecifiedMatching -OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:PDCD7 semapv:UnspecifiedMatching -OMIM:608138 PDCD7 skos:exactMatch ncbigene:10081 semapv:UnspecifiedMatching -OMIM:608139 CENPV skos:exactMatch hgnc.symbol:29920 semapv:UnspecifiedMatching -OMIM:608139 CENPV skos:exactMatch hgnc.symbol:CENPV semapv:UnspecifiedMatching -OMIM:608139 CENPV skos:exactMatch ncbigene:201161 semapv:UnspecifiedMatching -OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:29797 semapv:UnspecifiedMatching -OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:NUP35 semapv:UnspecifiedMatching -OMIM:608140 NUP35 skos:exactMatch ncbigene:129401 semapv:UnspecifiedMatching -OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:21182 semapv:UnspecifiedMatching -OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:NUP43 semapv:UnspecifiedMatching -OMIM:608141 NUP43 skos:exactMatch ncbigene:348995 semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch UMLS:C1825526 semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch hgnc.symbol:28913 semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch hgnc.symbol:HSCB semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch ncbigene:150274 semapv:UnspecifiedMatching -OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:20880 semapv:UnspecifiedMatching -OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:GPAT4 semapv:UnspecifiedMatching -OMIM:608143 AGPAT6 skos:exactMatch ncbigene:137964 semapv:UnspecifiedMatching -OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:17257 semapv:UnspecifiedMatching -OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:SPDEF semapv:UnspecifiedMatching -OMIM:608144 SPDEF skos:exactMatch ncbigene:25803 semapv:UnspecifiedMatching -OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:17043 semapv:UnspecifiedMatching -OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:NIPA1 semapv:UnspecifiedMatching -OMIM:608145 NIPA1 skos:exactMatch ncbigene:123606 semapv:UnspecifiedMatching -OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:17044 semapv:UnspecifiedMatching -OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:NIPA2 semapv:UnspecifiedMatching -OMIM:608146 NIPA2 skos:exactMatch ncbigene:81614 semapv:UnspecifiedMatching -OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:18600 semapv:UnspecifiedMatching -OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:TUBGCP5 semapv:UnspecifiedMatching -OMIM:608147 TUBGCP5 skos:exactMatch ncbigene:114791 semapv:UnspecifiedMatching -OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:21637 semapv:UnspecifiedMatching -OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:SATB2 semapv:UnspecifiedMatching -OMIM:608148 SATB2 skos:exactMatch ncbigene:23314 semapv:UnspecifiedMatching -OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:19369 semapv:UnspecifiedMatching -OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:PPHLN1 semapv:UnspecifiedMatching -OMIM:608150 PPHLN1 skos:exactMatch ncbigene:51535 semapv:UnspecifiedMatching -OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:18340 semapv:UnspecifiedMatching -OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:WDR19 semapv:UnspecifiedMatching -OMIM:608151 WDR19 skos:exactMatch ncbigene:57728 semapv:UnspecifiedMatching -OMIM:608152 PTGES2 skos:exactMatch hgnc.symbol:17822 semapv:UnspecifiedMatching -OMIM:608152 PTGES2 skos:exactMatch hgnc.symbol:PTGES2 semapv:UnspecifiedMatching -OMIM:608152 PTGES2 skos:exactMatch ncbigene:80142 semapv:UnspecifiedMatching -OMIM:608153 PPP1R14A skos:exactMatch hgnc.symbol:14871 semapv:UnspecifiedMatching -OMIM:608153 PPP1R14A skos:exactMatch hgnc.symbol:PPP1R14A semapv:UnspecifiedMatching -OMIM:608153 PPP1R14A skos:exactMatch ncbigene:94274 semapv:UnspecifiedMatching -OMIM:608155 SYNPO skos:exactMatch hgnc.symbol:30672 semapv:UnspecifiedMatching -OMIM:608155 SYNPO skos:exactMatch hgnc.symbol:SYNPO semapv:UnspecifiedMatching -OMIM:608155 SYNPO skos:exactMatch ncbigene:11346 semapv:UnspecifiedMatching -OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:22921 semapv:UnspecifiedMatching -OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:SLC25A2 semapv:UnspecifiedMatching -OMIM:608157 SLC25A2 skos:exactMatch ncbigene:83884 semapv:UnspecifiedMatching -OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:9485 semapv:UnspecifiedMatching -OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:PRSS21 semapv:UnspecifiedMatching -OMIM:608159 PRSS21 skos:exactMatch ncbigene:10942 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1420331 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1842462 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1861922 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C1861923 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C2749215 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C3549544 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C4225331 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C4723824 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C4747386 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch UMLS:C4747387 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:11204 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:SOX9 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch ncbigene:6662 semapv:UnspecifiedMatching -OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:28873 semapv:UnspecifiedMatching -OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:VTCN1 semapv:UnspecifiedMatching -OMIM:608162 VTCN1 skos:exactMatch ncbigene:79679 semapv:UnspecifiedMatching -OMIM:608163 EXOC7 skos:exactMatch UMLS:C1427993 semapv:UnspecifiedMatching -OMIM:608163 EXOC7 skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching -OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:23214 semapv:UnspecifiedMatching -OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:EXOC7 semapv:UnspecifiedMatching -OMIM:608163 EXOC7 skos:exactMatch ncbigene:23265 semapv:UnspecifiedMatching -OMIM:608164 KCNV1 skos:exactMatch hgnc.symbol:18861 semapv:UnspecifiedMatching -OMIM:608164 KCNV1 skos:exactMatch hgnc.symbol:KCNV1 semapv:UnspecifiedMatching -OMIM:608164 KCNV1 skos:exactMatch ncbigene:27012 semapv:UnspecifiedMatching -OMIM:608165 GULP1 skos:exactMatch hgnc.symbol:18649 semapv:UnspecifiedMatching -OMIM:608165 GULP1 skos:exactMatch hgnc.symbol:GULP1 semapv:UnspecifiedMatching -OMIM:608165 GULP1 skos:exactMatch ncbigene:51454 semapv:UnspecifiedMatching -OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:10727 semapv:UnspecifiedMatching -OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:SEMA3E semapv:UnspecifiedMatching -OMIM:608166 SEMA3E skos:exactMatch ncbigene:9723 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch UMLS:C1425836 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554306 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:18865 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:KCNT1 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch ncbigene:57582 semapv:UnspecifiedMatching -OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:18862 semapv:UnspecifiedMatching -OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:KCNH6 semapv:UnspecifiedMatching -OMIM:608168 KCNH6 skos:exactMatch ncbigene:81033 semapv:UnspecifiedMatching -OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:18863 semapv:UnspecifiedMatching -OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:KCNH7 semapv:UnspecifiedMatching -OMIM:608169 KCNH7 skos:exactMatch ncbigene:90134 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch UMLS:C1425698 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch UMLS:C4225520 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:18674 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:DDX41 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch ncbigene:51428 semapv:UnspecifiedMatching -OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:20202 semapv:UnspecifiedMatching -OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:CACNA2D4 semapv:UnspecifiedMatching -OMIM:608171 CACNA2D4 skos:exactMatch ncbigene:93589 semapv:UnspecifiedMatching -OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:20603 semapv:UnspecifiedMatching -OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:DHDDS semapv:UnspecifiedMatching -OMIM:608172 DHDDS skos:exactMatch ncbigene:79947 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch UMLS:C0694878 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch UMLS:C4017146 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:3512 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:EXT1 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch ncbigene:2131 semapv:UnspecifiedMatching -OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:23206 semapv:UnspecifiedMatching -OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:LUZP2 semapv:UnspecifiedMatching -OMIM:608178 LUZP2 skos:exactMatch ncbigene:338645 semapv:UnspecifiedMatching -OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:779 semapv:UnspecifiedMatching -OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:ATCAY semapv:UnspecifiedMatching -OMIM:608179 ATCAY skos:exactMatch ncbigene:85300 semapv:UnspecifiedMatching -OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:20373 semapv:UnspecifiedMatching -OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:SPG21 semapv:UnspecifiedMatching -OMIM:608181 ACP33 skos:exactMatch ncbigene:51324 semapv:UnspecifiedMatching -OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:30083 semapv:UnspecifiedMatching -OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:KCNIP4 semapv:UnspecifiedMatching -OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch ncbigene:80333 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch UMLS:C1424814 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch UMLS:C1854466 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:17198 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:CHSY1 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch ncbigene:22856 semapv:UnspecifiedMatching -OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:30389 semapv:UnspecifiedMatching -OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:EXOC4 semapv:UnspecifiedMatching -OMIM:608185 EXOC4 skos:exactMatch ncbigene:60412 semapv:UnspecifiedMatching -OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:30378 semapv:UnspecifiedMatching -OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:EXOC3 semapv:UnspecifiedMatching -OMIM:608186 EXOC3 skos:exactMatch ncbigene:11336 semapv:UnspecifiedMatching -OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:16147 semapv:UnspecifiedMatching -OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:MCM8 semapv:UnspecifiedMatching -OMIM:608187 MCM8 skos:exactMatch ncbigene:84515 semapv:UnspecifiedMatching -OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:16148 semapv:UnspecifiedMatching -OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:CRLS1 semapv:UnspecifiedMatching -OMIM:608188 CRLS1 skos:exactMatch ncbigene:54675 semapv:UnspecifiedMatching -OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:30235 semapv:UnspecifiedMatching -OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:NAT8B semapv:UnspecifiedMatching -OMIM:608190 NAT8B skos:exactMatch ncbigene:51471 semapv:UnspecifiedMatching -OMIM:608191 RBAK skos:exactMatch UMLS:C1826772 semapv:UnspecifiedMatching -OMIM:608191 RBAK skos:exactMatch hgnc.symbol:17680 semapv:UnspecifiedMatching -OMIM:608191 RBAK skos:exactMatch hgnc.symbol:RBAK semapv:UnspecifiedMatching -OMIM:608191 RBAK skos:exactMatch ncbigene:57786 semapv:UnspecifiedMatching -OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:19285 semapv:UnspecifiedMatching -OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:SCYL3 semapv:UnspecifiedMatching -OMIM:608192 SCYL3 skos:exactMatch ncbigene:57147 semapv:UnspecifiedMatching -OMIM:608193 REC8 skos:exactMatch hgnc.symbol:16879 semapv:UnspecifiedMatching -OMIM:608193 REC8 skos:exactMatch hgnc.symbol:REC8 semapv:UnspecifiedMatching -OMIM:608193 REC8 skos:exactMatch ncbigene:9985 semapv:UnspecifiedMatching -OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:14307 semapv:UnspecifiedMatching -OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:LRRC1 semapv:UnspecifiedMatching -OMIM:608195 LRRC1 skos:exactMatch ncbigene:55227 semapv:UnspecifiedMatching -OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:20876 semapv:UnspecifiedMatching -OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:WRNIP1 semapv:UnspecifiedMatching -OMIM:608196 WRNIP1 skos:exactMatch ncbigene:56897 semapv:UnspecifiedMatching -OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:30014 semapv:UnspecifiedMatching -OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:PGLYRP3 semapv:UnspecifiedMatching -OMIM:608197 PGLYRP3 skos:exactMatch ncbigene:114771 semapv:UnspecifiedMatching -OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:30015 semapv:UnspecifiedMatching -OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:PGLYRP4 semapv:UnspecifiedMatching -OMIM:608198 PGLYRP4 skos:exactMatch ncbigene:57115 semapv:UnspecifiedMatching -OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:30013 semapv:UnspecifiedMatching -OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:PGLYRP2 semapv:UnspecifiedMatching -OMIM:608199 PGLYRP2 skos:exactMatch ncbigene:114770 semapv:UnspecifiedMatching -OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:15880 semapv:UnspecifiedMatching -OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:CDK5RAP1 semapv:UnspecifiedMatching -OMIM:608200 CDK5RAP1 skos:exactMatch ncbigene:51654 semapv:UnspecifiedMatching -OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:18672 semapv:UnspecifiedMatching -OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:CDK5RAP2 semapv:UnspecifiedMatching -OMIM:608201 CDK5RAP2 skos:exactMatch ncbigene:55755 semapv:UnspecifiedMatching -OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:18673 semapv:UnspecifiedMatching -OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:CDK5RAP3 semapv:UnspecifiedMatching -OMIM:608202 CDK5RAP3 skos:exactMatch ncbigene:80279 semapv:UnspecifiedMatching -OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching -OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch UMLS:C1422014 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch UMLS:C2750180 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:13481 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:UNC93B1 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch ncbigene:81622 semapv:UnspecifiedMatching -OMIM:608205 MECR skos:exactMatch hgnc.symbol:19691 semapv:UnspecifiedMatching -OMIM:608205 MECR skos:exactMatch hgnc.symbol:MECR semapv:UnspecifiedMatching -OMIM:608205 MECR skos:exactMatch ncbigene:51102 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1539765 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:29427 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:SH3TC2 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch ncbigene:79628 semapv:UnspecifiedMatching -OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:29269 semapv:UnspecifiedMatching -OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:MARCHF4 semapv:UnspecifiedMatching -OMIM:608208 MARCHF4 skos:exactMatch ncbigene:57574 semapv:UnspecifiedMatching -OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:20823 semapv:UnspecifiedMatching -OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:DPP10 semapv:UnspecifiedMatching -OMIM:608209 DPP10 skos:exactMatch ncbigene:57628 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch UMLS:C0694879 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch UMLS:C4225248 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch UMLS:C5193209 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:3513 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:EXT2 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch ncbigene:2132 semapv:UnspecifiedMatching -OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:21031 semapv:UnspecifiedMatching -OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:KAAG1 semapv:UnspecifiedMatching -OMIM:608211 KAAG1 skos:exactMatch ncbigene:353219 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch UMLS:C1537424 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch UMLS:C2677079 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch hgnc.symbol:29597 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch hgnc.symbol:IRGM semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch ncbigene:345611 semapv:UnspecifiedMatching -OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:24153 semapv:UnspecifiedMatching -OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:CEND1 semapv:UnspecifiedMatching -OMIM:608213 CEND1 skos:exactMatch ncbigene:51286 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C1427065 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C2751088 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C4013699 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch UMLS:C4017659 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:20665 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:SCN3B semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch ncbigene:55800 semapv:UnspecifiedMatching -OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:21735 semapv:UnspecifiedMatching -OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:LHX6 semapv:UnspecifiedMatching -OMIM:608215 LHX6 skos:exactMatch ncbigene:26468 semapv:UnspecifiedMatching -OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:17902 semapv:UnspecifiedMatching -OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:COMMD5 semapv:UnspecifiedMatching -OMIM:608216 COMMD5 skos:exactMatch ncbigene:28991 semapv:UnspecifiedMatching -OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:20412 semapv:UnspecifiedMatching -OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:KRT20 semapv:UnspecifiedMatching -OMIM:608218 KRT20 skos:exactMatch ncbigene:54474 semapv:UnspecifiedMatching -OMIM:608221 MASTL skos:exactMatch hgnc.symbol:19042 semapv:UnspecifiedMatching -OMIM:608221 MASTL skos:exactMatch hgnc.symbol:MASTL semapv:UnspecifiedMatching -OMIM:608221 MASTL skos:exactMatch ncbigene:84930 semapv:UnspecifiedMatching -OMIM:608222 ADSL skos:exactMatch hgnc.symbol:291 semapv:UnspecifiedMatching -OMIM:608222 ADSL skos:exactMatch hgnc.symbol:ADSL semapv:UnspecifiedMatching -OMIM:608222 ADSL skos:exactMatch ncbigene:158 semapv:UnspecifiedMatching -OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:22946 semapv:UnspecifiedMatching -OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:GALNT14 semapv:UnspecifiedMatching -OMIM:608225 GALNT14 skos:exactMatch ncbigene:79623 semapv:UnspecifiedMatching -OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:23044 semapv:UnspecifiedMatching -OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:NANOS1 semapv:UnspecifiedMatching -OMIM:608226 NANOS1 skos:exactMatch ncbigene:340719 semapv:UnspecifiedMatching -OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:23292 semapv:UnspecifiedMatching -OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:NANOS2 semapv:UnspecifiedMatching -OMIM:608228 NANOS2 skos:exactMatch ncbigene:339345 semapv:UnspecifiedMatching -OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:22048 semapv:UnspecifiedMatching -OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:NANOS3 semapv:UnspecifiedMatching -OMIM:608229 NANOS3 skos:exactMatch ncbigene:342977 semapv:UnspecifiedMatching -OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:1396 semapv:UnspecifiedMatching -OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:CACNA1I semapv:UnspecifiedMatching -OMIM:608230 CACNA1I skos:exactMatch ncbigene:8911 semapv:UnspecifiedMatching -OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:13232 semapv:UnspecifiedMatching -OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:RASSF8 semapv:UnspecifiedMatching -OMIM:608231 RASSF8 skos:exactMatch ncbigene:11228 semapv:UnspecifiedMatching -OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:24144 semapv:UnspecifiedMatching -OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:GAL3ST3 semapv:UnspecifiedMatching -OMIM:608234 GAL3ST3 skos:exactMatch ncbigene:89792 semapv:UnspecifiedMatching -OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:24145 semapv:UnspecifiedMatching -OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:GAL3ST4 semapv:UnspecifiedMatching -OMIM:608235 GAL3ST4 skos:exactMatch ncbigene:79690 semapv:UnspecifiedMatching -OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:24869 semapv:UnspecifiedMatching -OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:GAL3ST2 semapv:UnspecifiedMatching -OMIM:608237 GAL3ST2 skos:exactMatch ncbigene:64090 semapv:UnspecifiedMatching -OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:30227 semapv:UnspecifiedMatching -OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:SPPL2A semapv:UnspecifiedMatching -OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching -OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching -OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:30424 semapv:UnspecifiedMatching -OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:SPPL3 semapv:UnspecifiedMatching -OMIM:608240 SPPL3 skos:exactMatch ncbigene:121665 semapv:UnspecifiedMatching -OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:30587 semapv:UnspecifiedMatching -OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:SNIP1 semapv:UnspecifiedMatching -OMIM:608241 SNIP1 skos:exactMatch ncbigene:79753 semapv:UnspecifiedMatching -OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:24368 semapv:UnspecifiedMatching -OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:HERC5 semapv:UnspecifiedMatching -OMIM:608242 HERC5 skos:exactMatch ncbigene:51191 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch UMLS:C1417615 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:7677 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:NSMCE3 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch ncbigene:56160 semapv:UnspecifiedMatching -OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:28927 semapv:UnspecifiedMatching -OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:KRT71 semapv:UnspecifiedMatching -OMIM:608245 KRT71 skos:exactMatch ncbigene:112802 semapv:UnspecifiedMatching -OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:28932 semapv:UnspecifiedMatching -OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:KRT72 semapv:UnspecifiedMatching -OMIM:608246 KRT72 skos:exactMatch ncbigene:140807 semapv:UnspecifiedMatching -OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:28928 semapv:UnspecifiedMatching -OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:KRT73 semapv:UnspecifiedMatching -OMIM:608247 KRT73 skos:exactMatch ncbigene:319101 semapv:UnspecifiedMatching -OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:28929 semapv:UnspecifiedMatching -OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:KRT74 semapv:UnspecifiedMatching -OMIM:608248 KRT74 skos:exactMatch ncbigene:121391 semapv:UnspecifiedMatching -OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:19437 semapv:UnspecifiedMatching -OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:CCNB1IP1 semapv:UnspecifiedMatching -OMIM:608249 CCNB1IP1 skos:exactMatch ncbigene:57820 semapv:UnspecifiedMatching -OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:29545 semapv:UnspecifiedMatching -OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:SUDS3 semapv:UnspecifiedMatching -OMIM:608250 SUDS3 skos:exactMatch ncbigene:64426 semapv:UnspecifiedMatching -OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:24017 semapv:UnspecifiedMatching -OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:AFAP1 semapv:UnspecifiedMatching -OMIM:608252 AFAP1 skos:exactMatch ncbigene:60312 semapv:UnspecifiedMatching -OMIM:608253 TSKS skos:exactMatch hgnc.symbol:30719 semapv:UnspecifiedMatching -OMIM:608253 TSKS skos:exactMatch hgnc.symbol:TSKS semapv:UnspecifiedMatching -OMIM:608253 TSKS skos:exactMatch ncbigene:60385 semapv:UnspecifiedMatching -OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:8624 semapv:UnspecifiedMatching -OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:PAXIP1 semapv:UnspecifiedMatching -OMIM:608254 PAXIP1 skos:exactMatch ncbigene:22976 semapv:UnspecifiedMatching -OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:30766 semapv:UnspecifiedMatching -OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:TRAF3IP3 semapv:UnspecifiedMatching -OMIM:608255 TRAF3IP3 skos:exactMatch ncbigene:80342 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch UMLS:C1419863 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch UMLS:C4013560 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:10592 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:SCN4B semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch ncbigene:6330 semapv:UnspecifiedMatching -OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:18648 semapv:UnspecifiedMatching -OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:DPP9 semapv:UnspecifiedMatching -OMIM:608258 DPP9 skos:exactMatch ncbigene:91039 semapv:UnspecifiedMatching -OMIM:608259 IGF2BP3 skos:exactMatch UMLS:C1825578 semapv:UnspecifiedMatching -OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:28868 semapv:UnspecifiedMatching -OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:IGF2BP3 semapv:UnspecifiedMatching -OMIM:608259 IGF2BP3 skos:exactMatch ncbigene:10643 semapv:UnspecifiedMatching -OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:18864 semapv:UnspecifiedMatching -OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:KCNH8 semapv:UnspecifiedMatching -OMIM:608260 KCNH8 skos:exactMatch ncbigene:131096 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch UMLS:C1427927 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:23116 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:SENP2 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch ncbigene:59343 semapv:UnspecifiedMatching -OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:17805 semapv:UnspecifiedMatching -OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:DIRC3 semapv:UnspecifiedMatching -OMIM:608262 DIRC3 skos:exactMatch ncbigene:729582 semapv:UnspecifiedMatching -OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:16389 semapv:UnspecifiedMatching -OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:HSPBAP1 semapv:UnspecifiedMatching -OMIM:608263 HSPBAP1 skos:exactMatch ncbigene:79663 semapv:UnspecifiedMatching -OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:19902 semapv:UnspecifiedMatching -OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:RRAGC semapv:UnspecifiedMatching -OMIM:608267 RRAGC skos:exactMatch ncbigene:64121 semapv:UnspecifiedMatching -OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:19903 semapv:UnspecifiedMatching -OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:RRAGD semapv:UnspecifiedMatching -OMIM:608268 RRAGD skos:exactMatch ncbigene:58528 semapv:UnspecifiedMatching -OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:16484 semapv:UnspecifiedMatching -OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:SLC28A3 semapv:UnspecifiedMatching -OMIM:608269 SLC28A3 skos:exactMatch ncbigene:64078 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch UMLS:C1823228 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:15859 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:TASP1 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch ncbigene:55617 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch UMLS:C1422134 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch UMLS:C5193029 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:13664 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:MACF1 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch ncbigene:23499 semapv:UnspecifiedMatching -OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:7758 semapv:UnspecifiedMatching -OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:NEU1 semapv:UnspecifiedMatching -OMIM:608272 NEU1 skos:exactMatch ncbigene:4758 semapv:UnspecifiedMatching -OMIM:608273 IL27 skos:exactMatch hgnc.symbol:19157 semapv:UnspecifiedMatching -OMIM:608273 IL27 skos:exactMatch hgnc.symbol:IL27 semapv:UnspecifiedMatching -OMIM:608273 IL27 skos:exactMatch ncbigene:246778 semapv:UnspecifiedMatching -OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:18241 semapv:UnspecifiedMatching -OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:PRMT6 semapv:UnspecifiedMatching -OMIM:608274 PRMT6 skos:exactMatch ncbigene:55170 semapv:UnspecifiedMatching -OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:20301 semapv:UnspecifiedMatching -OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:SLC22A15 semapv:UnspecifiedMatching -OMIM:608275 SLC22A15 skos:exactMatch ncbigene:55356 semapv:UnspecifiedMatching -OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:20302 semapv:UnspecifiedMatching -OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:SLC22A16 semapv:UnspecifiedMatching -OMIM:608276 SLC22A16 skos:exactMatch ncbigene:85413 semapv:UnspecifiedMatching -OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:18137 semapv:UnspecifiedMatching -OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:CHST15 semapv:UnspecifiedMatching -OMIM:608277 CHST15 skos:exactMatch ncbigene:51363 semapv:UnspecifiedMatching -OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:16355 semapv:UnspecifiedMatching -OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:GAS5 semapv:UnspecifiedMatching -OMIM:608280 GAS5 skos:exactMatch ncbigene:60674 semapv:UnspecifiedMatching -OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:20977 semapv:UnspecifiedMatching -OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:TAAR9 semapv:UnspecifiedMatching -OMIM:608282 TAAR9 skos:exactMatch ncbigene:134860 semapv:UnspecifiedMatching -OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:19349 semapv:UnspecifiedMatching -OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:KIF21A semapv:UnspecifiedMatching -OMIM:608283 KIF21A skos:exactMatch ncbigene:55605 semapv:UnspecifiedMatching -OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:28902 semapv:UnspecifiedMatching -OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:SPPL2C semapv:UnspecifiedMatching -OMIM:608284 intramembrane protease 5 skos:exactMatch ncbigene:162540 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch UMLS:C1826343 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:29832 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:NADSYN1 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch ncbigene:55191 semapv:UnspecifiedMatching -OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:13404 semapv:UnspecifiedMatching -OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:PCDH10 semapv:UnspecifiedMatching -OMIM:608286 PCDH10 skos:exactMatch ncbigene:57575 semapv:UnspecifiedMatching -OMIM:608287 PCDH18 skos:exactMatch UMLS:C1422528 semapv:UnspecifiedMatching -OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:14268 semapv:UnspecifiedMatching -OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:PCDH18 semapv:UnspecifiedMatching -OMIM:608287 PCDH18 skos:exactMatch ncbigene:54510 semapv:UnspecifiedMatching -OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:28866 semapv:UnspecifiedMatching -OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:IGF2BP1 semapv:UnspecifiedMatching -OMIM:608288 IGF2BP1 skos:exactMatch ncbigene:10642 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C1825577 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:28867 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:IGF2BP2 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch ncbigene:10644 semapv:UnspecifiedMatching -OMIM:608291 TTL skos:exactMatch hgnc.symbol:21586 semapv:UnspecifiedMatching -OMIM:608291 TTL skos:exactMatch hgnc.symbol:TTL semapv:UnspecifiedMatching -OMIM:608291 TTL skos:exactMatch ncbigene:150465 semapv:UnspecifiedMatching -OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:14559 semapv:UnspecifiedMatching -OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:STOML2 semapv:UnspecifiedMatching -OMIM:608292 STOML2 skos:exactMatch ncbigene:30968 semapv:UnspecifiedMatching -OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:18239 semapv:UnspecifiedMatching -OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:ARHGAP17 semapv:UnspecifiedMatching -OMIM:608293 ARHGAP17 skos:exactMatch ncbigene:55114 semapv:UnspecifiedMatching -OMIM:608294 NME6 skos:exactMatch hgnc.symbol:20567 semapv:UnspecifiedMatching -OMIM:608294 NME6 skos:exactMatch hgnc.symbol:NME6 semapv:UnspecifiedMatching -OMIM:608294 NME6 skos:exactMatch ncbigene:10201 semapv:UnspecifiedMatching -OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:30827 semapv:UnspecifiedMatching -OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:FAM107A semapv:UnspecifiedMatching -OMIM:608295 FAM107A skos:exactMatch ncbigene:11170 semapv:UnspecifiedMatching -OMIM:608296 FIBP skos:exactMatch hgnc.symbol:3705 semapv:UnspecifiedMatching -OMIM:608296 FIBP skos:exactMatch hgnc.symbol:FIBP semapv:UnspecifiedMatching -OMIM:608296 FIBP skos:exactMatch ncbigene:9158 semapv:UnspecifiedMatching -OMIM:608298 CCDS80 skos:exactMatch UMLS:C1824605 semapv:UnspecifiedMatching -OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:30649 semapv:UnspecifiedMatching -OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:CCDC80 semapv:UnspecifiedMatching -OMIM:608298 CCDS80 skos:exactMatch ncbigene:151887 semapv:UnspecifiedMatching -OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:17297 semapv:UnspecifiedMatching -OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:RNF34 semapv:UnspecifiedMatching -OMIM:608299 RNF34 skos:exactMatch ncbigene:80196 semapv:UnspecifiedMatching -OMIM:608300 NAGS skos:exactMatch hgnc.symbol:17996 semapv:UnspecifiedMatching -OMIM:608300 NAGS skos:exactMatch hgnc.symbol:NAGS semapv:UnspecifiedMatching -OMIM:608300 NAGS skos:exactMatch ncbigene:162417 semapv:UnspecifiedMatching -OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:18710 semapv:UnspecifiedMatching -OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:LGI2 semapv:UnspecifiedMatching -OMIM:608301 LGI2 skos:exactMatch ncbigene:55203 semapv:UnspecifiedMatching -OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:18711 semapv:UnspecifiedMatching -OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:LGI3 semapv:UnspecifiedMatching -OMIM:608302 LGI3 skos:exactMatch ncbigene:203190 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch UMLS:C1425731 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:18712 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:LGI4 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch ncbigene:163175 semapv:UnspecifiedMatching -OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:21622 semapv:UnspecifiedMatching -OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:CAGE1 semapv:UnspecifiedMatching -OMIM:608304 CTAG3 skos:exactMatch ncbigene:285782 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch UMLS:C1427906 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:23089 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:SLC13A5 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch ncbigene:284111 semapv:UnspecifiedMatching -OMIM:608306 SP8 skos:exactMatch hgnc.symbol:19196 semapv:UnspecifiedMatching -OMIM:608306 SP8 skos:exactMatch hgnc.symbol:SP8 semapv:UnspecifiedMatching -OMIM:608306 SP8 skos:exactMatch ncbigene:221833 semapv:UnspecifiedMatching -OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:2323 semapv:UnspecifiedMatching -OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:CPS1 semapv:UnspecifiedMatching -OMIM:608307 CPS1 skos:exactMatch ncbigene:1373 semapv:UnspecifiedMatching -OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:18275 semapv:UnspecifiedMatching -OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:ABTB1 semapv:UnspecifiedMatching -OMIM:608308 ABTB1 skos:exactMatch ncbigene:80325 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch UMLS:C1422771 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch UMLS:C1853833 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch UMLS:C1970035 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:14581 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:PINK1 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch ncbigene:65018 semapv:UnspecifiedMatching -OMIM:608310 ASL skos:exactMatch hgnc.symbol:746 semapv:UnspecifiedMatching -OMIM:608310 ASL skos:exactMatch hgnc.symbol:ASL semapv:UnspecifiedMatching -OMIM:608310 ASL skos:exactMatch ncbigene:435 semapv:UnspecifiedMatching -OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:15712 semapv:UnspecifiedMatching -OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:POLR2MP1 semapv:UnspecifiedMatching -OMIM:608311 GRINL1B skos:exactMatch ncbigene:339970 semapv:UnspecifiedMatching -OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:18027 semapv:UnspecifiedMatching -OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:POLR1F semapv:UnspecifiedMatching -OMIM:608312 POLR1F skos:exactMatch ncbigene:221830 semapv:UnspecifiedMatching -OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:663 semapv:UnspecifiedMatching -OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:ARG1 semapv:UnspecifiedMatching -OMIM:608313 ARG1 skos:exactMatch ncbigene:383 semapv:UnspecifiedMatching -OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:10750 semapv:UnspecifiedMatching -OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:SEPTIN3 semapv:UnspecifiedMatching -OMIM:608314 SEPT3 skos:exactMatch ncbigene:55964 semapv:UnspecifiedMatching -OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:20907 semapv:UnspecifiedMatching -OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:EAF1 semapv:UnspecifiedMatching -OMIM:608315 EAF1 skos:exactMatch ncbigene:85403 semapv:UnspecifiedMatching -OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:25839 semapv:UnspecifiedMatching -OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:GRHL3 semapv:UnspecifiedMatching -OMIM:608317 GRHL3 skos:exactMatch ncbigene:57822 semapv:UnspecifiedMatching -OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:21354 semapv:UnspecifiedMatching -OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:TICAM2 semapv:UnspecifiedMatching -OMIM:608321 TICAM2 skos:exactMatch ncbigene:353376 semapv:UnspecifiedMatching -OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:29442 semapv:UnspecifiedMatching -OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:KIF21B semapv:UnspecifiedMatching -OMIM:608322 KIF21B skos:exactMatch ncbigene:23046 semapv:UnspecifiedMatching -OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:30248 semapv:UnspecifiedMatching -OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:SMIM3 semapv:UnspecifiedMatching -OMIM:608324 SMIM3 skos:exactMatch ncbigene:85027 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C1538635 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C5231537 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch UMLS:C5231538 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:24156 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:PHF21A semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch ncbigene:51317 semapv:UnspecifiedMatching -OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:14560 semapv:UnspecifiedMatching -OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:STOML1 semapv:UnspecifiedMatching -OMIM:608326 STOML1 skos:exactMatch ncbigene:9399 semapv:UnspecifiedMatching -OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:19420 semapv:UnspecifiedMatching -OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:STOML3 semapv:UnspecifiedMatching -OMIM:608327 STOML3 skos:exactMatch ncbigene:161003 semapv:UnspecifiedMatching -OMIM:608329 MYRF skos:exactMatch hgnc.symbol:1181 semapv:UnspecifiedMatching -OMIM:608329 MYRF skos:exactMatch hgnc.symbol:MYRF semapv:UnspecifiedMatching -OMIM:608329 MYRF skos:exactMatch ncbigene:745 semapv:UnspecifiedMatching -OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:17896 semapv:UnspecifiedMatching -OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:PRPF19 semapv:UnspecifiedMatching -OMIM:608330 PRPF19 skos:exactMatch ncbigene:27339 semapv:UnspecifiedMatching -OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:18762 semapv:UnspecifiedMatching -OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:SLC36A2 semapv:UnspecifiedMatching -OMIM:608331 SLC36A2 skos:exactMatch ncbigene:153201 semapv:UnspecifiedMatching -OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:19659 semapv:UnspecifiedMatching -OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:SLC36A3 semapv:UnspecifiedMatching -OMIM:608332 SLC36A3 skos:exactMatch ncbigene:285641 semapv:UnspecifiedMatching -OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:19868 semapv:UnspecifiedMatching -OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:DOK4 semapv:UnspecifiedMatching -OMIM:608333 DOK4 skos:exactMatch ncbigene:55715 semapv:UnspecifiedMatching -OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:16173 semapv:UnspecifiedMatching -OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:DOK5 semapv:UnspecifiedMatching -OMIM:608334 DOK5 skos:exactMatch ncbigene:55816 semapv:UnspecifiedMatching -OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:24310 semapv:UnspecifiedMatching -OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:PLEKHO1 semapv:UnspecifiedMatching -OMIM:608335 PLEKHO1 skos:exactMatch ncbigene:51177 semapv:UnspecifiedMatching -OMIM:608336 TPRA1 skos:exactMatch UMLS:C1539611 semapv:UnspecifiedMatching -OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:30413 semapv:UnspecifiedMatching -OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:TPRA1 semapv:UnspecifiedMatching -OMIM:608336 TPRA1 skos:exactMatch ncbigene:131601 semapv:UnspecifiedMatching -OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:23077 semapv:UnspecifiedMatching -OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:OTUB1 semapv:UnspecifiedMatching -OMIM:608337 OTUB1 skos:exactMatch ncbigene:55611 semapv:UnspecifiedMatching -OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:20351 semapv:UnspecifiedMatching -OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:OTUB2 semapv:UnspecifiedMatching -OMIM:608338 OTUB2 skos:exactMatch ncbigene:78990 semapv:UnspecifiedMatching -OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:11446 semapv:UnspecifiedMatching -OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:STXBP3 semapv:UnspecifiedMatching -OMIM:608339 STXBP3 skos:exactMatch ncbigene:6814 semapv:UnspecifiedMatching -OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:13397 semapv:UnspecifiedMatching -OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:CYB5R1 semapv:UnspecifiedMatching -OMIM:608341 CYB5R1 skos:exactMatch ncbigene:51706 semapv:UnspecifiedMatching -OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:24376 semapv:UnspecifiedMatching -OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:CYB5R2 semapv:UnspecifiedMatching -OMIM:608342 CYB5R2 skos:exactMatch ncbigene:51700 semapv:UnspecifiedMatching -OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:20147 semapv:UnspecifiedMatching -OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:CYB5R4 semapv:UnspecifiedMatching -OMIM:608343 CYB5R4 skos:exactMatch ncbigene:51167 semapv:UnspecifiedMatching -OMIM:608344 HSPB9 skos:exactMatch UMLS:C1537389 semapv:UnspecifiedMatching -OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:30589 semapv:UnspecifiedMatching -OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:HSPB9 semapv:UnspecifiedMatching -OMIM:608344 HSPB9 skos:exactMatch ncbigene:94086 semapv:UnspecifiedMatching -OMIM:608347 DCXR skos:exactMatch hgnc.symbol:18985 semapv:UnspecifiedMatching -OMIM:608347 DCXR skos:exactMatch hgnc.symbol:DCXR semapv:UnspecifiedMatching -OMIM:608347 DCXR skos:exactMatch ncbigene:51181 semapv:UnspecifiedMatching -OMIM:608348 BCKDHA skos:exactMatch hgnc.symbol:986 semapv:UnspecifiedMatching -OMIM:608348 BCKDHA skos:exactMatch hgnc.symbol:BCKDHA semapv:UnspecifiedMatching -OMIM:608348 BCKDHA skos:exactMatch ncbigene:593 semapv:UnspecifiedMatching -OMIM:608349 HSH2D skos:exactMatch hgnc.symbol:24920 semapv:UnspecifiedMatching -OMIM:608349 HSH2D skos:exactMatch hgnc.symbol:HSH2D semapv:UnspecifiedMatching -OMIM:608349 HSH2D skos:exactMatch ncbigene:84941 semapv:UnspecifiedMatching -OMIM:608350 EMCN skos:exactMatch hgnc.symbol:16041 semapv:UnspecifiedMatching -OMIM:608350 EMCN skos:exactMatch hgnc.symbol:EMCN semapv:UnspecifiedMatching -OMIM:608350 EMCN skos:exactMatch ncbigene:51705 semapv:UnspecifiedMatching -OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:16669 semapv:UnspecifiedMatching -OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:IGSF11 semapv:UnspecifiedMatching -OMIM:608351 IGSF11 skos:exactMatch ncbigene:152404 semapv:UnspecifiedMatching -OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:17195 semapv:UnspecifiedMatching -OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:ACRBP semapv:UnspecifiedMatching -OMIM:608352 ACRBP skos:exactMatch ncbigene:84519 semapv:UnspecifiedMatching -OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:29957 semapv:UnspecifiedMatching -OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:AZIN2 semapv:UnspecifiedMatching -OMIM:608353 AZIN2 skos:exactMatch ncbigene:113451 semapv:UnspecifiedMatching -OMIM:608356 ODF3 skos:exactMatch hgnc.symbol:CIMAP1A semapv:UnspecifiedMatching -OMIM:608356 ODF3 skos:exactMatch ncbigene:113746 semapv:UnspecifiedMatching -OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:11457 semapv:UnspecifiedMatching -OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:SULT1C4 semapv:UnspecifiedMatching -OMIM:608357 SULT1C4 skos:exactMatch ncbigene:27233 semapv:UnspecifiedMatching -OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:14903 semapv:UnspecifiedMatching -OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:SULT4A1 semapv:UnspecifiedMatching -OMIM:608359 SULT4A1 skos:exactMatch ncbigene:25830 semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch UMLS:C1825876 semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch UMLS:C4225518 semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:19027 semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:LRRC8A semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch ncbigene:56262 semapv:UnspecifiedMatching -OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:15926 semapv:UnspecifiedMatching -OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:STMN3 semapv:UnspecifiedMatching -OMIM:608362 STMN3 skos:exactMatch ncbigene:50861 semapv:UnspecifiedMatching -OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:24636 semapv:UnspecifiedMatching -OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:LIMA1 semapv:UnspecifiedMatching -OMIM:608364 LIMA1 skos:exactMatch ncbigene:51474 semapv:UnspecifiedMatching -OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:11657 semapv:UnspecifiedMatching -OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:TCP10L semapv:UnspecifiedMatching -OMIM:608365 TCP10L skos:exactMatch ncbigene:140290 semapv:UnspecifiedMatching -OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:29213 semapv:UnspecifiedMatching -OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:CEMIP semapv:UnspecifiedMatching -OMIM:608366 CEMIP skos:exactMatch ncbigene:57214 semapv:UnspecifiedMatching -OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:21700 semapv:UnspecifiedMatching -OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching -OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching -OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:23242 semapv:UnspecifiedMatching -OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:GALNT13 semapv:UnspecifiedMatching -OMIM:608369 GALNT13 skos:exactMatch ncbigene:114805 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch UMLS:C1822652 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:21088 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:SCD5 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch ncbigene:79966 semapv:UnspecifiedMatching -OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:11502 semapv:UnspecifiedMatching -OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:SYNGR4 semapv:UnspecifiedMatching -OMIM:608373 SYNGR4 skos:exactMatch ncbigene:23546 semapv:UnspecifiedMatching -OMIM:608374 HJV skos:exactMatch hgnc.symbol:4887 semapv:UnspecifiedMatching -OMIM:608374 HJV skos:exactMatch hgnc.symbol:HJV semapv:UnspecifiedMatching -OMIM:608374 HJV skos:exactMatch ncbigene:148738 semapv:UnspecifiedMatching -OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:15469 semapv:UnspecifiedMatching -OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:DNAJC6 semapv:UnspecifiedMatching -OMIM:608375 DNAJC6 skos:exactMatch ncbigene:9829 semapv:UnspecifiedMatching -OMIM:608376 DNAJB12 skos:exactMatch UMLS:C1423030 semapv:UnspecifiedMatching -OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:14891 semapv:UnspecifiedMatching -OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:DNAJB12 semapv:UnspecifiedMatching -OMIM:608376 DNAJB12 skos:exactMatch ncbigene:54788 semapv:UnspecifiedMatching -OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:15852 semapv:UnspecifiedMatching -OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:ARFGAP1 semapv:UnspecifiedMatching -OMIM:608377 ARFGAP1 skos:exactMatch ncbigene:55738 semapv:UnspecifiedMatching -OMIM:608378 NEMF skos:exactMatch UMLS:C1419896 semapv:UnspecifiedMatching -OMIM:608378 NEMF skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching -OMIM:608378 NEMF skos:exactMatch hgnc.symbol:10663 semapv:UnspecifiedMatching -OMIM:608378 NEMF skos:exactMatch hgnc.symbol:NEMF semapv:UnspecifiedMatching -OMIM:608378 NEMF skos:exactMatch ncbigene:9147 semapv:UnspecifiedMatching -OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:1612 semapv:UnspecifiedMatching -OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:CCRL2 semapv:UnspecifiedMatching -OMIM:608379 CCRL2 skos:exactMatch ncbigene:9034 semapv:UnspecifiedMatching -OMIM:608381 CERKL skos:exactMatch hgnc.symbol:21699 semapv:UnspecifiedMatching -OMIM:608381 CERKL skos:exactMatch hgnc.symbol:CERKL semapv:UnspecifiedMatching -OMIM:608381 CERKL skos:exactMatch ncbigene:375298 semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch UMLS:C1420733 semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:11808 semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:DNAJA3 semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch ncbigene:9093 semapv:UnspecifiedMatching -OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:20637 semapv:UnspecifiedMatching -OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:DPYSL5 semapv:UnspecifiedMatching -OMIM:608383 DPYSL5 skos:exactMatch ncbigene:56896 semapv:UnspecifiedMatching -OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:7151 semapv:UnspecifiedMatching -OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:GSDMC semapv:UnspecifiedMatching -OMIM:608384 GSDMC skos:exactMatch ncbigene:56169 semapv:UnspecifiedMatching -OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:24352 semapv:UnspecifiedMatching -OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:TNS4 semapv:UnspecifiedMatching -OMIM:608385 TNS4 skos:exactMatch ncbigene:84951 semapv:UnspecifiedMatching -OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:30828 semapv:UnspecifiedMatching -OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:PTH2 semapv:UnspecifiedMatching -OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch ncbigene:113091 semapv:UnspecifiedMatching -OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:13005 semapv:UnspecifiedMatching -OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:ZNF213 semapv:UnspecifiedMatching -OMIM:608387 ZNF213 skos:exactMatch ncbigene:7760 semapv:UnspecifiedMatching -OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:29548 semapv:UnspecifiedMatching -OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:ECSIT semapv:UnspecifiedMatching -OMIM:608388 ECSIT skos:exactMatch ncbigene:51295 semapv:UnspecifiedMatching -OMIM:608389 branchiootic syndrome 3 skos:exactMatch Orphanet:52429 semapv:UnspecifiedMatching -OMIM:608389 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching -OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:20653 semapv:UnspecifiedMatching -OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:SLC9A9 semapv:UnspecifiedMatching -OMIM:608396 SLC9A9 skos:exactMatch ncbigene:285195 semapv:UnspecifiedMatching -OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:14026 semapv:UnspecifiedMatching -OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:CSMD1 semapv:UnspecifiedMatching -OMIM:608397 CSMD1 skos:exactMatch ncbigene:64478 semapv:UnspecifiedMatching -OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:19290 semapv:UnspecifiedMatching -OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:CSMD2 semapv:UnspecifiedMatching -OMIM:608398 CSMD2 skos:exactMatch ncbigene:114784 semapv:UnspecifiedMatching -OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:19291 semapv:UnspecifiedMatching -OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:CSMD3 semapv:UnspecifiedMatching -OMIM:608399 CSMD3 skos:exactMatch ncbigene:114788 semapv:UnspecifiedMatching -OMIM:608400 USH2A skos:exactMatch hgnc.symbol:12601 semapv:UnspecifiedMatching -OMIM:608400 USH2A skos:exactMatch hgnc.symbol:USH2A semapv:UnspecifiedMatching -OMIM:608400 USH2A skos:exactMatch ncbigene:7399 semapv:UnspecifiedMatching -OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:14284 semapv:UnspecifiedMatching -OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:MS4A4E semapv:UnspecifiedMatching -OMIM:608401 MS4A4E skos:exactMatch ncbigene:643680 semapv:UnspecifiedMatching -OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:14285 semapv:UnspecifiedMatching -OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:MS4A6E semapv:UnspecifiedMatching -OMIM:608402 MS4A6E skos:exactMatch ncbigene:245802 semapv:UnspecifiedMatching -OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:13368 semapv:UnspecifiedMatching -OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:MS4A10 semapv:UnspecifiedMatching -OMIM:608403 MS4A10 skos:exactMatch ncbigene:341116 semapv:UnspecifiedMatching -OMIM:608405 ACCS skos:exactMatch hgnc.symbol:23989 semapv:UnspecifiedMatching -OMIM:608405 ACCS skos:exactMatch hgnc.symbol:ACCS semapv:UnspecifiedMatching -OMIM:608405 ACCS skos:exactMatch ncbigene:84680 semapv:UnspecifiedMatching -OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:3016 semapv:UnspecifiedMatching -OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:DPYSL4 semapv:UnspecifiedMatching -OMIM:608407 DPYSL4 skos:exactMatch ncbigene:10570 semapv:UnspecifiedMatching -OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:19199 semapv:UnspecifiedMatching -OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:DPPA3 semapv:UnspecifiedMatching -OMIM:608408 DPPA3 skos:exactMatch ncbigene:359787 semapv:UnspecifiedMatching -OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:29898 semapv:UnspecifiedMatching -OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:C15orf48 semapv:UnspecifiedMatching -OMIM:608409 C15ORF48 skos:exactMatch ncbigene:84419 semapv:UnspecifiedMatching -OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:19733 semapv:UnspecifiedMatching -OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:XPO6 semapv:UnspecifiedMatching -OMIM:608411 XPO6 skos:exactMatch ncbigene:23214 semapv:UnspecifiedMatching -OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:29520 semapv:UnspecifiedMatching -OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:GPBP1 semapv:UnspecifiedMatching -OMIM:608412 GPBP1 skos:exactMatch ncbigene:65056 semapv:UnspecifiedMatching -OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:16806 semapv:UnspecifiedMatching -OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:UBR5 semapv:UnspecifiedMatching -OMIM:608413 UBR5 skos:exactMatch ncbigene:51366 semapv:UnspecifiedMatching -OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:17175 semapv:UnspecifiedMatching -OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:PLCE1 semapv:UnspecifiedMatching -OMIM:608414 PLCE1 skos:exactMatch ncbigene:51196 semapv:UnspecifiedMatching -OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:14357 semapv:UnspecifiedMatching -OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:MMP21 semapv:UnspecifiedMatching -OMIM:608416 MMP21 skos:exactMatch ncbigene:118856 semapv:UnspecifiedMatching -OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:14366 semapv:UnspecifiedMatching -OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:MMP28 semapv:UnspecifiedMatching -OMIM:608417 MMP28 skos:exactMatch ncbigene:79148 semapv:UnspecifiedMatching -OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:16511 semapv:UnspecifiedMatching -OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:SEPTIN8 semapv:UnspecifiedMatching -OMIM:608418 SEPT8 skos:exactMatch ncbigene:23176 semapv:UnspecifiedMatching -OMIM:608419 MCEE skos:exactMatch hgnc.symbol:16732 semapv:UnspecifiedMatching -OMIM:608419 MCEE skos:exactMatch hgnc.symbol:MCEE semapv:UnspecifiedMatching -OMIM:608419 MCEE skos:exactMatch ncbigene:84693 semapv:UnspecifiedMatching -OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:8599 semapv:UnspecifiedMatching -OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:PANX1 semapv:UnspecifiedMatching -OMIM:608420 PANX1 skos:exactMatch ncbigene:24145 semapv:UnspecifiedMatching -OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:8600 semapv:UnspecifiedMatching -OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:PANX2 semapv:UnspecifiedMatching -OMIM:608421 PANX2 skos:exactMatch ncbigene:56666 semapv:UnspecifiedMatching -OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:20573 semapv:UnspecifiedMatching -OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:PANX3 semapv:UnspecifiedMatching -OMIM:608422 PANX3 skos:exactMatch ncbigene:116337 semapv:UnspecifiedMatching -OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching -OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch UMLS:C1842062 semapv:UnspecifiedMatching -OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:16800 semapv:UnspecifiedMatching -OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:MUC17 semapv:UnspecifiedMatching -OMIM:608424 MUC17 skos:exactMatch ncbigene:140453 semapv:UnspecifiedMatching -OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:24822 semapv:UnspecifiedMatching -OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:FN3K semapv:UnspecifiedMatching -OMIM:608425 fructosamine 3-kinase skos:exactMatch ncbigene:64122 semapv:UnspecifiedMatching -OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:7113 semapv:UnspecifiedMatching -OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:MKRN2 semapv:UnspecifiedMatching -OMIM:608426 MKRN2 skos:exactMatch ncbigene:23609 semapv:UnspecifiedMatching -OMIM:608427 PACRG skos:exactMatch hgnc.symbol:19152 semapv:UnspecifiedMatching -OMIM:608427 PACRG skos:exactMatch hgnc.symbol:PACRG semapv:UnspecifiedMatching -OMIM:608427 PACRG skos:exactMatch ncbigene:135138 semapv:UnspecifiedMatching -OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:20577 semapv:UnspecifiedMatching -OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:CYP26C1 semapv:UnspecifiedMatching -OMIM:608428 CYP26C1 skos:exactMatch ncbigene:340665 semapv:UnspecifiedMatching -OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:24464 semapv:UnspecifiedMatching -OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:CHST14 semapv:UnspecifiedMatching -OMIM:608429 CHST14 skos:exactMatch ncbigene:113189 semapv:UnspecifiedMatching -OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:16181 semapv:UnspecifiedMatching -OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:TRPC4AP semapv:UnspecifiedMatching -OMIM:608430 TRPC4AP skos:exactMatch ncbigene:26133 semapv:UnspecifiedMatching -OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:30292 semapv:UnspecifiedMatching -OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:G3BP1 semapv:UnspecifiedMatching -OMIM:608431 G3BP1 skos:exactMatch ncbigene:10146 semapv:UnspecifiedMatching -OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:13030 semapv:UnspecifiedMatching -OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:ZBTB18 semapv:UnspecifiedMatching -OMIM:608433 ZBTB18 skos:exactMatch ncbigene:10472 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch UMLS:C1333676 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:4272 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:GIT1 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch ncbigene:28964 semapv:UnspecifiedMatching -OMIM:608435 MRAS skos:exactMatch hgnc.symbol:7227 semapv:UnspecifiedMatching -OMIM:608435 MRAS skos:exactMatch hgnc.symbol:MRAS semapv:UnspecifiedMatching -OMIM:608435 MRAS skos:exactMatch ncbigene:22808 semapv:UnspecifiedMatching -OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:17845 semapv:UnspecifiedMatching -OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:SULT1B1 semapv:UnspecifiedMatching -OMIM:608436 SULT1B1 skos:exactMatch ncbigene:27284 semapv:UnspecifiedMatching -OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:11841 semapv:UnspecifiedMatching -OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:TLK1 semapv:UnspecifiedMatching -OMIM:608438 TLK1 skos:exactMatch ncbigene:9874 semapv:UnspecifiedMatching -OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:11842 semapv:UnspecifiedMatching -OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:TLK2 semapv:UnspecifiedMatching -OMIM:608439 TLK2 skos:exactMatch ncbigene:11011 semapv:UnspecifiedMatching -OMIM:608440 LACTB skos:exactMatch hgnc.symbol:16468 semapv:UnspecifiedMatching -OMIM:608440 LACTB skos:exactMatch hgnc.symbol:LACTB semapv:UnspecifiedMatching -OMIM:608440 LACTB skos:exactMatch ncbigene:114294 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C1424736 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:17089 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:SYNE1 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch ncbigene:23345 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch UMLS:C1424731 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch UMLS:C3489792 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:17084 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:SYNE2 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch ncbigene:23224 semapv:UnspecifiedMatching -OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:18541 semapv:UnspecifiedMatching -OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:KMT2E semapv:UnspecifiedMatching -OMIM:608444 KMT2E skos:exactMatch ncbigene:55904 semapv:UnspecifiedMatching -OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:17662 semapv:UnspecifiedMatching -OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:PTBP2 semapv:UnspecifiedMatching -OMIM:608449 PTBP2 skos:exactMatch ncbigene:58155 semapv:UnspecifiedMatching -OMIM:608450 BLACE skos:exactMatch hgnc.symbol:20484 semapv:UnspecifiedMatching -OMIM:608450 BLACE skos:exactMatch hgnc.symbol:BLACE semapv:UnspecifiedMatching -OMIM:608450 BLACE skos:exactMatch ncbigene:338436 semapv:UnspecifiedMatching -OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:23287 semapv:UnspecifiedMatching -OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:ETHE1 semapv:UnspecifiedMatching -OMIM:608451 ETHE1 skos:exactMatch ncbigene:23474 semapv:UnspecifiedMatching -OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:8801 semapv:UnspecifiedMatching -OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:PDGFC semapv:UnspecifiedMatching -OMIM:608452 PDGFC skos:exactMatch ncbigene:56034 semapv:UnspecifiedMatching -OMIM:608453 CBLC skos:exactMatch hgnc.symbol:15961 semapv:UnspecifiedMatching -OMIM:608453 CBLC skos:exactMatch hgnc.symbol:CBLC semapv:UnspecifiedMatching -OMIM:608453 CBLC skos:exactMatch ncbigene:23624 semapv:UnspecifiedMatching -OMIM:608455 PYGM skos:exactMatch hgnc.symbol:9726 semapv:UnspecifiedMatching -OMIM:608455 PYGM skos:exactMatch hgnc.symbol:PYGM semapv:UnspecifiedMatching -OMIM:608455 PYGM skos:exactMatch ncbigene:5837 semapv:UnspecifiedMatching -OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:1557 semapv:UnspecifiedMatching -OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:CBX7 semapv:UnspecifiedMatching -OMIM:608457 CBX7 skos:exactMatch ncbigene:23492 semapv:UnspecifiedMatching -OMIM:608458 NCDN skos:exactMatch hgnc.symbol:17597 semapv:UnspecifiedMatching -OMIM:608458 NCDN skos:exactMatch hgnc.symbol:NCDN semapv:UnspecifiedMatching -OMIM:608458 NCDN skos:exactMatch ncbigene:23154 semapv:UnspecifiedMatching -OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:15483 semapv:UnspecifiedMatching -OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:CDKL3 semapv:UnspecifiedMatching -OMIM:608459 CDKL3 skos:exactMatch ncbigene:51265 semapv:UnspecifiedMatching -OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:23330 semapv:UnspecifiedMatching -OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:ZNF276 semapv:UnspecifiedMatching -OMIM:608460 ZFP276 skos:exactMatch ncbigene:92822 semapv:UnspecifiedMatching -OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:22986 semapv:UnspecifiedMatching -OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:COL27A1 semapv:UnspecifiedMatching -OMIM:608461 COL27A1 skos:exactMatch ncbigene:85301 semapv:UnspecifiedMatching -OMIM:608463 AATF skos:exactMatch hgnc.symbol:19235 semapv:UnspecifiedMatching -OMIM:608463 AATF skos:exactMatch hgnc.symbol:AATF semapv:UnspecifiedMatching -OMIM:608463 AATF skos:exactMatch ncbigene:26574 semapv:UnspecifiedMatching -OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:24684 semapv:UnspecifiedMatching -OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:AGGF1 semapv:UnspecifiedMatching -OMIM:608464 AGGF1 skos:exactMatch ncbigene:55109 semapv:UnspecifiedMatching -OMIM:608465 SETX skos:exactMatch hgnc.symbol:445 semapv:UnspecifiedMatching -OMIM:608465 SETX skos:exactMatch hgnc.symbol:SETX semapv:UnspecifiedMatching -OMIM:608465 SETX skos:exactMatch ncbigene:23064 semapv:UnspecifiedMatching -OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:1189 semapv:UnspecifiedMatching -OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:AHSA1 semapv:UnspecifiedMatching -OMIM:608466 AHSA1 skos:exactMatch ncbigene:10598 semapv:UnspecifiedMatching -OMIM:608467 STON2 skos:exactMatch hgnc.symbol:30652 semapv:UnspecifiedMatching -OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching -OMIM:608467 STON2 skos:exactMatch ncbigene:85439 semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching -OMIM:608469 DDX17 skos:exactMatch UMLS:C1413957 semapv:UnspecifiedMatching -OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:2740 semapv:UnspecifiedMatching -OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:DDX17 semapv:UnspecifiedMatching -OMIM:608469 DDX17 skos:exactMatch ncbigene:10521 semapv:UnspecifiedMatching -OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching -OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching -OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:10861 semapv:UnspecifiedMatching -OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:ST6GAL2 semapv:UnspecifiedMatching -OMIM:608472 ST6GAL2 skos:exactMatch ncbigene:84620 semapv:UnspecifiedMatching -OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:19988 semapv:UnspecifiedMatching -OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:ANAPC1 semapv:UnspecifiedMatching -OMIM:608473 ANAPC1 skos:exactMatch ncbigene:64682 semapv:UnspecifiedMatching -OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:4907 semapv:UnspecifiedMatching -OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:HIBADH semapv:UnspecifiedMatching -OMIM:608475 HIBADH skos:exactMatch ncbigene:11112 semapv:UnspecifiedMatching -OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:30140 semapv:UnspecifiedMatching -OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:TBKBP1 semapv:UnspecifiedMatching -OMIM:608476 TBKBP1 skos:exactMatch ncbigene:9755 semapv:UnspecifiedMatching -OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:390 semapv:UnspecifiedMatching -OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:AKR7A3 semapv:UnspecifiedMatching -OMIM:608477 AKR7A3 skos:exactMatch ncbigene:22977 semapv:UnspecifiedMatching -OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:24056 semapv:UnspecifiedMatching -OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:AKR7L semapv:UnspecifiedMatching -OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch ncbigene:246181 semapv:UnspecifiedMatching -OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:14467 semapv:UnspecifiedMatching -OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:SLC26A7 semapv:UnspecifiedMatching -OMIM:608479 SLC26A7 skos:exactMatch ncbigene:115111 semapv:UnspecifiedMatching -OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:14468 semapv:UnspecifiedMatching -OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:SLC26A8 semapv:UnspecifiedMatching -OMIM:608480 SLC26A8 skos:exactMatch ncbigene:116369 semapv:UnspecifiedMatching -OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:14469 semapv:UnspecifiedMatching -OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:SLC26A9 semapv:UnspecifiedMatching -OMIM:608481 SLC26A9 skos:exactMatch ncbigene:115019 semapv:UnspecifiedMatching -OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:14246 semapv:UnspecifiedMatching -OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:MMP25 semapv:UnspecifiedMatching -OMIM:608482 MMP25 skos:exactMatch ncbigene:64386 semapv:UnspecifiedMatching -OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:16710 semapv:UnspecifiedMatching -OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:AKTIP semapv:UnspecifiedMatching -OMIM:608483 AKTIP skos:exactMatch ncbigene:64400 semapv:UnspecifiedMatching -OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:16855 semapv:UnspecifiedMatching -OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:TRAM2 semapv:UnspecifiedMatching -OMIM:608485 TRAM2 skos:exactMatch ncbigene:9697 semapv:UnspecifiedMatching -OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:20443 semapv:UnspecifiedMatching -OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:MTSS1 semapv:UnspecifiedMatching -OMIM:608486 MTSS1 skos:exactMatch ncbigene:9788 semapv:UnspecifiedMatching -OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:16276 semapv:UnspecifiedMatching -OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:TRIM5 semapv:UnspecifiedMatching -OMIM:608487 TRIM5 skos:exactMatch ncbigene:85363 semapv:UnspecifiedMatching -OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:20318 semapv:UnspecifiedMatching -OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:SMOC1 semapv:UnspecifiedMatching -OMIM:608488 SMOC1 skos:exactMatch ncbigene:64093 semapv:UnspecifiedMatching -OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:11356 semapv:UnspecifiedMatching -OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:STAG3 semapv:UnspecifiedMatching -OMIM:608489 STAG3 skos:exactMatch ncbigene:10734 semapv:UnspecifiedMatching -OMIM:608490 SLC38A1 skos:exactMatch UMLS:C1421999 semapv:UnspecifiedMatching -OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:13447 semapv:UnspecifiedMatching -OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:SLC38A1 semapv:UnspecifiedMatching -OMIM:608490 SLC38A1 skos:exactMatch ncbigene:81539 semapv:UnspecifiedMatching -OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:14603 semapv:UnspecifiedMatching -OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:DMTF1 semapv:UnspecifiedMatching -OMIM:608491 DMTF1 skos:exactMatch ncbigene:9988 semapv:UnspecifiedMatching -OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:8343 semapv:UnspecifiedMatching -OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:OR5F1 semapv:UnspecifiedMatching -OMIM:608492 OR5F1 skos:exactMatch ncbigene:338674 semapv:UnspecifiedMatching -OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:15131 semapv:UnspecifiedMatching -OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:OR10A5 semapv:UnspecifiedMatching -OMIM:608493 OR10A1 skos:exactMatch ncbigene:144124 semapv:UnspecifiedMatching -OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:8244 semapv:UnspecifiedMatching -OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:OR2D2 semapv:UnspecifiedMatching -OMIM:608494 OR2D2 skos:exactMatch ncbigene:120776 semapv:UnspecifiedMatching -OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:15301 semapv:UnspecifiedMatching -OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:OR6A2 semapv:UnspecifiedMatching -OMIM:608495 OR6A2 skos:exactMatch ncbigene:8590 semapv:UnspecifiedMatching -OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:8347 semapv:UnspecifiedMatching -OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:OR5I1 semapv:UnspecifiedMatching -OMIM:608496 OR5I1 skos:exactMatch ncbigene:10798 semapv:UnspecifiedMatching -OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:8246 semapv:UnspecifiedMatching -OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:OR2F1 semapv:UnspecifiedMatching -OMIM:608497 OR2F1 skos:exactMatch ncbigene:26211 semapv:UnspecifiedMatching -OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:15662 semapv:UnspecifiedMatching -OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:ZPBP semapv:UnspecifiedMatching -OMIM:608498 ZPBP skos:exactMatch ncbigene:11055 semapv:UnspecifiedMatching -OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:20678 semapv:UnspecifiedMatching -OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:ZPBP2 semapv:UnspecifiedMatching -OMIM:608499 ZPBP2 skos:exactMatch ncbigene:124626 semapv:UnspecifiedMatching -OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:17019 semapv:UnspecifiedMatching -OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:PRICKLE1 semapv:UnspecifiedMatching -OMIM:608500 PRICKLE1 skos:exactMatch ncbigene:144165 semapv:UnspecifiedMatching -OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:20340 semapv:UnspecifiedMatching -OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:PRICKLE2 semapv:UnspecifiedMatching -OMIM:608501 PRICKLE2 skos:exactMatch ncbigene:166336 semapv:UnspecifiedMatching -OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:8651 semapv:UnspecifiedMatching -OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:PCBP3 semapv:UnspecifiedMatching -OMIM:608502 PCBP3 skos:exactMatch ncbigene:54039 semapv:UnspecifiedMatching -OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:8652 semapv:UnspecifiedMatching -OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:PCBP4 semapv:UnspecifiedMatching -OMIM:608503 PCBP4 skos:exactMatch ncbigene:57060 semapv:UnspecifiedMatching -OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:15590 semapv:UnspecifiedMatching -OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:ARHGEF15 semapv:UnspecifiedMatching -OMIM:608504 ARHGEF15 skos:exactMatch ncbigene:22899 semapv:UnspecifiedMatching -OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:18262 semapv:UnspecifiedMatching -OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:MFN1 semapv:UnspecifiedMatching -OMIM:608506 MFN1 skos:exactMatch ncbigene:55669 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch UMLS:C0393807 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch UMLS:C1424611 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch UMLS:C4310725 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch UMLS:C4310875 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:16877 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:MFN2 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch ncbigene:9927 semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch UMLS:C1413843 semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch UMLS:C4017159 semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch hgnc.symbol:2577 semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch hgnc.symbol:CYBA semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch ncbigene:1535 semapv:UnspecifiedMatching -OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:30416 semapv:UnspecifiedMatching -OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:SH2D1B semapv:UnspecifiedMatching -OMIM:608510 SH2D1B skos:exactMatch ncbigene:117157 semapv:UnspecifiedMatching -OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:16865 semapv:UnspecifiedMatching -OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:PHYHIP semapv:UnspecifiedMatching -OMIM:608511 PHYHIP skos:exactMatch ncbigene:9796 semapv:UnspecifiedMatching -OMIM:608512 NCF1 skos:exactMatch UMLS:C1417608 semapv:UnspecifiedMatching -OMIM:608512 NCF1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching -OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:7660 semapv:UnspecifiedMatching -OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:NCF1 semapv:UnspecifiedMatching -OMIM:608512 NCF1 skos:exactMatch ncbigene:653361 semapv:UnspecifiedMatching -OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:19273 semapv:UnspecifiedMatching -OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:RPPH1 semapv:UnspecifiedMatching -OMIM:608513 RPPH1 skos:exactMatch ncbigene:85495 semapv:UnspecifiedMatching -OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:21607 semapv:UnspecifiedMatching -OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:AIG1 semapv:UnspecifiedMatching -OMIM:608514 AIG1 skos:exactMatch ncbigene:51390 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch UMLS:C1417609 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:7661 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:NCF2 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch ncbigene:4688 semapv:UnspecifiedMatching -OMIM:608517 MYPN skos:exactMatch hgnc.symbol:23246 semapv:UnspecifiedMatching -OMIM:608517 MYPN skos:exactMatch hgnc.symbol:MYPN semapv:UnspecifiedMatching -OMIM:608517 MYPN skos:exactMatch ncbigene:84665 semapv:UnspecifiedMatching -OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:13618 semapv:UnspecifiedMatching -OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:FBXO16 semapv:UnspecifiedMatching -OMIM:608519 FBXO16 skos:exactMatch ncbigene:157574 semapv:UnspecifiedMatching -OMIM:608521 LAMTOR5 skos:exactMatch UMLS:C1425201 semapv:UnspecifiedMatching -OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:17955 semapv:UnspecifiedMatching -OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:LAMTOR5 semapv:UnspecifiedMatching -OMIM:608521 LAMTOR5 skos:exactMatch ncbigene:10542 semapv:UnspecifiedMatching -OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:18118 semapv:UnspecifiedMatching -OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:RSF1 semapv:UnspecifiedMatching -OMIM:608522 HBXAP skos:exactMatch ncbigene:51773 semapv:UnspecifiedMatching -OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:20348 semapv:UnspecifiedMatching -OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:DIO3OS semapv:UnspecifiedMatching -OMIM:608523 DIO3OS skos:exactMatch ncbigene:64150 semapv:UnspecifiedMatching -OMIM:608524 ING4 skos:exactMatch UMLS:C1426234 semapv:UnspecifiedMatching -OMIM:608524 ING4 skos:exactMatch hgnc.symbol:19423 semapv:UnspecifiedMatching -OMIM:608524 ING4 skos:exactMatch hgnc.symbol:ING4 semapv:UnspecifiedMatching -OMIM:608524 ING4 skos:exactMatch ncbigene:51147 semapv:UnspecifiedMatching -OMIM:608525 ING5 skos:exactMatch hgnc.symbol:19421 semapv:UnspecifiedMatching -OMIM:608525 ING5 skos:exactMatch hgnc.symbol:ING5 semapv:UnspecifiedMatching -OMIM:608525 ING5 skos:exactMatch ncbigene:84289 semapv:UnspecifiedMatching -OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:21328 semapv:UnspecifiedMatching -OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:NEU4 semapv:UnspecifiedMatching -OMIM:608527 NEU4 skos:exactMatch ncbigene:129807 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch UMLS:C1423732 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch hgnc.symbol:15791 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch hgnc.symbol:PIGU semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch ncbigene:128869 semapv:UnspecifiedMatching -OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:18794 semapv:UnspecifiedMatching -OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:FBN3 semapv:UnspecifiedMatching -OMIM:608529 FBN3 skos:exactMatch ncbigene:84467 semapv:UnspecifiedMatching -OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:1120 semapv:UnspecifiedMatching -OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:BTBD1 semapv:UnspecifiedMatching -OMIM:608530 BTBD1 skos:exactMatch ncbigene:53339 semapv:UnspecifiedMatching -OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:15504 semapv:UnspecifiedMatching -OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:BTBD2 semapv:UnspecifiedMatching -OMIM:608531 BTBD2 skos:exactMatch ncbigene:55643 semapv:UnspecifiedMatching -OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:21904 semapv:UnspecifiedMatching -OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:NCAPG2 semapv:UnspecifiedMatching -OMIM:608532 NCAPG2 skos:exactMatch ncbigene:54892 semapv:UnspecifiedMatching -OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:28844 semapv:UnspecifiedMatching -OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:FBXO38 semapv:UnspecifiedMatching -OMIM:608533 FBXO38 skos:exactMatch ncbigene:81545 semapv:UnspecifiedMatching -OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:24022 semapv:UnspecifiedMatching -OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:ACTRT3 semapv:UnspecifiedMatching -OMIM:608534 actin-related protein m1 skos:exactMatch ncbigene:84517 semapv:UnspecifiedMatching -OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:24026 semapv:UnspecifiedMatching -OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:ACTRT2 semapv:UnspecifiedMatching -OMIM:608535 ACTRT2 skos:exactMatch ncbigene:140625 semapv:UnspecifiedMatching -OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:14880 semapv:UnspecifiedMatching -OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:GTPBP3 semapv:UnspecifiedMatching -OMIM:608536 GTPBP3 skos:exactMatch ncbigene:84705 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C0694897 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C4017160 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C4017161 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch UMLS:C5394582 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch hgnc.symbol:12687 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch hgnc.symbol:VHL semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch ncbigene:7428 semapv:UnspecifiedMatching -OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:17362 semapv:UnspecifiedMatching -OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:ARID5B semapv:UnspecifiedMatching -OMIM:608538 ARID5B skos:exactMatch ncbigene:84159 semapv:UnspecifiedMatching -OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:29450 semapv:UnspecifiedMatching -OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:GLIS2 semapv:UnspecifiedMatching -OMIM:608539 GLIS2 skos:exactMatch ncbigene:84662 semapv:UnspecifiedMatching -OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching -OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching -OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:18128 semapv:UnspecifiedMatching -OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:HDAC10 semapv:UnspecifiedMatching -OMIM:608544 HDAC10 skos:exactMatch ncbigene:83933 semapv:UnspecifiedMatching -OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:18683 semapv:UnspecifiedMatching -OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:EIF4A3 semapv:UnspecifiedMatching -OMIM:608546 EIF4A3 skos:exactMatch ncbigene:9775 semapv:UnspecifiedMatching -OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:23663 semapv:UnspecifiedMatching -OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:VKORC1 semapv:UnspecifiedMatching -OMIM:608547 VKORC1 skos:exactMatch ncbigene:79001 semapv:UnspecifiedMatching -OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:19194 semapv:UnspecifiedMatching -OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:HMCN1 semapv:UnspecifiedMatching -OMIM:608548 HMCN1 skos:exactMatch ncbigene:83872 semapv:UnspecifiedMatching -OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:14583 semapv:UnspecifiedMatching -OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:VPS11 semapv:UnspecifiedMatching -OMIM:608549 VPS11 skos:exactMatch ncbigene:55823 semapv:UnspecifiedMatching -OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:14584 semapv:UnspecifiedMatching -OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:VPS16 semapv:UnspecifiedMatching -OMIM:608550 VPS16 skos:exactMatch ncbigene:64601 semapv:UnspecifiedMatching -OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:15972 semapv:UnspecifiedMatching -OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:VPS18 semapv:UnspecifiedMatching -OMIM:608551 VPS18 skos:exactMatch ncbigene:57617 semapv:UnspecifiedMatching -OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:12712 semapv:UnspecifiedMatching -OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:VPS33B semapv:UnspecifiedMatching -OMIM:608552 VPS33B skos:exactMatch ncbigene:26276 semapv:UnspecifiedMatching -OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:18983 semapv:UnspecifiedMatching -OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:NPAS4 semapv:UnspecifiedMatching -OMIM:608554 NPAS4 skos:exactMatch ncbigene:266743 semapv:UnspecifiedMatching -OMIM:608555 MTX2 skos:exactMatch UMLS:C1417489 semapv:UnspecifiedMatching -OMIM:608555 MTX2 skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching -OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:7506 semapv:UnspecifiedMatching -OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:MTX2 semapv:UnspecifiedMatching -OMIM:608555 MTX2 skos:exactMatch ncbigene:10651 semapv:UnspecifiedMatching -OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:18628 semapv:UnspecifiedMatching -OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:STAB1 semapv:UnspecifiedMatching -OMIM:608560 STAB1 skos:exactMatch ncbigene:23166 semapv:UnspecifiedMatching -OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:18629 semapv:UnspecifiedMatching -OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:STAB2 semapv:UnspecifiedMatching -OMIM:608561 STAB2 skos:exactMatch ncbigene:55576 semapv:UnspecifiedMatching -OMIM:608564 GIT2 skos:exactMatch UMLS:C1333677 semapv:UnspecifiedMatching -OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:4273 semapv:UnspecifiedMatching -OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:GIT2 semapv:UnspecifiedMatching -OMIM:608564 GIT2 skos:exactMatch ncbigene:9815 semapv:UnspecifiedMatching -OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:14956 semapv:UnspecifiedMatching -OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:MUC15 semapv:UnspecifiedMatching -OMIM:608566 MUC15 skos:exactMatch ncbigene:143662 semapv:UnspecifiedMatching -OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:23212 semapv:UnspecifiedMatching -OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:MYH14 semapv:UnspecifiedMatching -OMIM:608568 MYH14 skos:exactMatch ncbigene:79784 semapv:UnspecifiedMatching -OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching -OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:20125 semapv:UnspecifiedMatching -OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:AHNAK2 semapv:UnspecifiedMatching -OMIM:608570 AHNAK2 skos:exactMatch ncbigene:113146 semapv:UnspecifiedMatching -OMIM:608574 EMSY skos:exactMatch hgnc.symbol:18071 semapv:UnspecifiedMatching -OMIM:608574 EMSY skos:exactMatch hgnc.symbol:EMSY semapv:UnspecifiedMatching -OMIM:608574 EMSY skos:exactMatch ncbigene:56946 semapv:UnspecifiedMatching -OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:14423 semapv:UnspecifiedMatching -OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:RDH8 semapv:UnspecifiedMatching -OMIM:608575 RDH8 skos:exactMatch ncbigene:50700 semapv:UnspecifiedMatching -OMIM:608576 GRHL2 skos:exactMatch hgnc.symbol:2799 semapv:UnspecifiedMatching -OMIM:608576 GRHL2 skos:exactMatch hgnc.symbol:GRHL2 semapv:UnspecifiedMatching -OMIM:608576 GRHL2 skos:exactMatch ncbigene:79977 semapv:UnspecifiedMatching -OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:20099 semapv:UnspecifiedMatching -OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:CHURC1 semapv:UnspecifiedMatching -OMIM:608577 CHURC1 skos:exactMatch ncbigene:91612 semapv:UnspecifiedMatching -OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:31038 semapv:UnspecifiedMatching -OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:MYH16 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C1423850 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C4017164 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:15946 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:RP1L1 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch ncbigene:94137 semapv:UnspecifiedMatching -OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:20594 semapv:UnspecifiedMatching -OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:EGFL7 semapv:UnspecifiedMatching -OMIM:608582 EGFL7 skos:exactMatch ncbigene:51162 semapv:UnspecifiedMatching -OMIM:608587 GHDC skos:exactMatch UMLS:C1825345 semapv:UnspecifiedMatching -OMIM:608587 GHDC skos:exactMatch hgnc.symbol:24438 semapv:UnspecifiedMatching -OMIM:608587 GHDC skos:exactMatch hgnc.symbol:GHDC semapv:UnspecifiedMatching -OMIM:608587 GHDC skos:exactMatch ncbigene:84514 semapv:UnspecifiedMatching -OMIM:608588 DHX58 skos:exactMatch UMLS:C1837808 semapv:UnspecifiedMatching -OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:29517 semapv:UnspecifiedMatching -OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:DHX58 semapv:UnspecifiedMatching -OMIM:608588 DHX58 skos:exactMatch ncbigene:79132 semapv:UnspecifiedMatching -OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:18430 semapv:UnspecifiedMatching -OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:SLAMF9 semapv:UnspecifiedMatching -OMIM:608589 SLAMF9 skos:exactMatch ncbigene:89886 semapv:UnspecifiedMatching -OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:16890 semapv:UnspecifiedMatching -OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:CTDSPL semapv:UnspecifiedMatching -OMIM:608592 CTDSPL skos:exactMatch ncbigene:10217 semapv:UnspecifiedMatching -OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:24668 semapv:UnspecifiedMatching -OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:CFHR5 semapv:UnspecifiedMatching -OMIM:608593 CFHR5 skos:exactMatch ncbigene:81494 semapv:UnspecifiedMatching -OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:23631 semapv:UnspecifiedMatching -OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:NPSR1 semapv:UnspecifiedMatching -OMIM:608595 NPSR1 skos:exactMatch ncbigene:387129 semapv:UnspecifiedMatching -OMIM:608596 NPSRAS1 skos:exactMatch hgnc.symbol:22128 semapv:UnspecifiedMatching -OMIM:608596 NPSRAS1 skos:exactMatch hgnc.symbol:NPSR1-AS1 semapv:UnspecifiedMatching -OMIM:608596 NPSRAS1 skos:exactMatch ncbigene:404744 semapv:UnspecifiedMatching -OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:16156 semapv:UnspecifiedMatching -OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:NEURL2 semapv:UnspecifiedMatching -OMIM:608597 NEURL2 skos:exactMatch ncbigene:140825 semapv:UnspecifiedMatching -OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:22933 semapv:UnspecifiedMatching -OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:CASC2 semapv:UnspecifiedMatching -OMIM:608598 CASC2 skos:exactMatch ncbigene:255082 semapv:UnspecifiedMatching -OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:29152 semapv:UnspecifiedMatching -OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:RAB11FIP2 semapv:UnspecifiedMatching -OMIM:608599 RAB11FIP2 skos:exactMatch ncbigene:22841 semapv:UnspecifiedMatching -OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:20442 semapv:UnspecifiedMatching -OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:FBRS semapv:UnspecifiedMatching -OMIM:608601 FBS1 skos:exactMatch ncbigene:64319 semapv:UnspecifiedMatching -OMIM:608602 SP140 skos:exactMatch hgnc.symbol:17133 semapv:UnspecifiedMatching -OMIM:608602 SP140 skos:exactMatch hgnc.symbol:SP140 semapv:UnspecifiedMatching -OMIM:608602 SP140 skos:exactMatch ncbigene:11262 semapv:UnspecifiedMatching -OMIM:608603 GLDN skos:exactMatch hgnc.symbol:29514 semapv:UnspecifiedMatching -OMIM:608603 GLDN skos:exactMatch hgnc.symbol:GLDN semapv:UnspecifiedMatching -OMIM:608603 GLDN skos:exactMatch ncbigene:342035 semapv:UnspecifiedMatching -OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:30316 semapv:UnspecifiedMatching -OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:RBP7 semapv:UnspecifiedMatching -OMIM:608604 RBP7 skos:exactMatch ncbigene:116362 semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch UMLS:C1823139 semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch UMLS:C2931007 semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch hgnc.symbol:30611 semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch hgnc.symbol:STT3B semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch ncbigene:201595 semapv:UnspecifiedMatching -OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:22265 semapv:UnspecifiedMatching -OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:BHLHA15 semapv:UnspecifiedMatching -OMIM:608606 BHLHA15 skos:exactMatch ncbigene:168620 semapv:UnspecifiedMatching -OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:24297 semapv:UnspecifiedMatching -OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:NBPF12 semapv:UnspecifiedMatching -OMIM:608607 NBPF12 skos:exactMatch ncbigene:149013 semapv:UnspecifiedMatching -OMIM:608608 PPIAL4E skos:exactMatch hgnc.symbol:33997 semapv:UnspecifiedMatching -OMIM:608608 PPIAL4E skos:exactMatch hgnc.symbol:PPIAL4E semapv:UnspecifiedMatching -OMIM:608608 PPIAL4E skos:exactMatch ncbigene:730262 semapv:UnspecifiedMatching -OMIM:608609 C1ORF152 skos:exactMatch hgnc.symbol:24298 semapv:UnspecifiedMatching -OMIM:608609 C1ORF152 skos:exactMatch hgnc.symbol:PFN1P2 semapv:UnspecifiedMatching -OMIM:608609 C1ORF152 skos:exactMatch ncbigene:767846 semapv:UnspecifiedMatching -OMIM:608610 PDCD4 skos:exactMatch hgnc.symbol:8763 semapv:UnspecifiedMatching -OMIM:608610 PDCD4 skos:exactMatch hgnc.symbol:PDCD4 semapv:UnspecifiedMatching -OMIM:608610 PDCD4 skos:exactMatch ncbigene:27250 semapv:UnspecifiedMatching -OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch Orphanet:2457 semapv:UnspecifiedMatching -OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch Orphanet:90154 semapv:UnspecifiedMatching -OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch UMLS:C1837756 semapv:UnspecifiedMatching -OMIM:608613 SP6 skos:exactMatch hgnc.symbol:14530 semapv:UnspecifiedMatching -OMIM:608613 SP6 skos:exactMatch hgnc.symbol:SP6 semapv:UnspecifiedMatching -OMIM:608613 SP6 skos:exactMatch ncbigene:80320 semapv:UnspecifiedMatching -OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:23198 semapv:UnspecifiedMatching -OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:CYP4V2 semapv:UnspecifiedMatching -OMIM:608614 CYP4V2 skos:exactMatch ncbigene:285440 semapv:UnspecifiedMatching -OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:15719 semapv:UnspecifiedMatching -OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:OBSCN semapv:UnspecifiedMatching -OMIM:608616 OBSCN skos:exactMatch ncbigene:84033 semapv:UnspecifiedMatching -OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:1253 semapv:UnspecifiedMatching -OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:FAM3B semapv:UnspecifiedMatching -OMIM:608617 FAM3B skos:exactMatch ncbigene:54097 semapv:UnspecifiedMatching -OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:18664 semapv:UnspecifiedMatching -OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:FAM3C semapv:UnspecifiedMatching -OMIM:608618 FAM3C skos:exactMatch ncbigene:10447 semapv:UnspecifiedMatching -OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:18665 semapv:UnspecifiedMatching -OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:FAM3D semapv:UnspecifiedMatching -OMIM:608619 FAM3D skos:exactMatch ncbigene:131177 semapv:UnspecifiedMatching -OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:11210 semapv:UnspecifiedMatching -OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:SPA17 semapv:UnspecifiedMatching -OMIM:608621 SPA17 skos:exactMatch ncbigene:53340 semapv:UnspecifiedMatching -OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:24265 semapv:UnspecifiedMatching -OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:PTRH2 semapv:UnspecifiedMatching -OMIM:608625 PTRH2 skos:exactMatch ncbigene:51651 semapv:UnspecifiedMatching -OMIM:608626 STRADA skos:exactMatch hgnc.symbol:30172 semapv:UnspecifiedMatching -OMIM:608626 STRADA skos:exactMatch hgnc.symbol:STRADA semapv:UnspecifiedMatching -OMIM:608626 STRADA skos:exactMatch ncbigene:92335 semapv:UnspecifiedMatching -OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:29529 semapv:UnspecifiedMatching -OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:TBL1XR1 semapv:UnspecifiedMatching -OMIM:608628 TBL1XR1 skos:exactMatch ncbigene:79718 semapv:UnspecifiedMatching -OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:13433 semapv:UnspecifiedMatching -OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:ROBO3 semapv:UnspecifiedMatching -OMIM:608630 ROBO3 skos:exactMatch ncbigene:64221 semapv:UnspecifiedMatching -OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:31567 semapv:UnspecifiedMatching -OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:MIR196A1 semapv:UnspecifiedMatching -OMIM:608632 MIR196A1 skos:exactMatch ncbigene:406972 semapv:UnspecifiedMatching -OMIM:608633 CASP12 skos:exactMatch hgnc.symbol:19004 semapv:UnspecifiedMatching -OMIM:608633 CASP12 skos:exactMatch hgnc.symbol:CASP12 semapv:UnspecifiedMatching -OMIM:608633 CASP12 skos:exactMatch ncbigene:100506742 semapv:UnspecifiedMatching -OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:16487 semapv:UnspecifiedMatching -OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:ADAP2 semapv:UnspecifiedMatching -OMIM:608635 ADAP2 skos:exactMatch ncbigene:55803 semapv:UnspecifiedMatching -OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:30037 semapv:UnspecifiedMatching -OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:PLEKHA8 semapv:UnspecifiedMatching -OMIM:608639 PLEKHA8 skos:exactMatch ncbigene:84725 semapv:UnspecifiedMatching -OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:21629 semapv:UnspecifiedMatching -OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:ZNF461 semapv:UnspecifiedMatching -OMIM:608640 ZNF461 skos:exactMatch ncbigene:92283 semapv:UnspecifiedMatching -OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:20149 semapv:UnspecifiedMatching -OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:PTGR2 semapv:UnspecifiedMatching -OMIM:608642 ZADH1 skos:exactMatch ncbigene:145482 semapv:UnspecifiedMatching -OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching -OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching -OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:21082 semapv:UnspecifiedMatching -OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:SEC63 semapv:UnspecifiedMatching -OMIM:608648 SEC63 skos:exactMatch ncbigene:11231 semapv:UnspecifiedMatching -OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:13480 semapv:UnspecifiedMatching -OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:ULK2 semapv:UnspecifiedMatching -OMIM:608650 ULK2 skos:exactMatch ncbigene:9706 semapv:UnspecifiedMatching -OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:16922 semapv:UnspecifiedMatching -OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:AGAP1 semapv:UnspecifiedMatching -OMIM:608651 AGAP1 skos:exactMatch ncbigene:116987 semapv:UnspecifiedMatching -OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:4280 semapv:UnspecifiedMatching -OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:GJC1 semapv:UnspecifiedMatching -OMIM:608655 GJC1 skos:exactMatch ncbigene:10052 semapv:UnspecifiedMatching -OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:17546 semapv:UnspecifiedMatching -OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:JDP2 semapv:UnspecifiedMatching -OMIM:608657 JDP2 skos:exactMatch ncbigene:122953 semapv:UnspecifiedMatching -OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:22992 semapv:UnspecifiedMatching -OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:SENP8 semapv:UnspecifiedMatching -OMIM:608659 SENP8 skos:exactMatch ncbigene:123228 semapv:UnspecifiedMatching -OMIM:608660 INSIG2 skos:exactMatch UMLS:C1426946 semapv:UnspecifiedMatching -OMIM:608660 INSIG2 skos:exactMatch hgnc.symbol:20452 semapv:UnspecifiedMatching -OMIM:608660 INSIG2 skos:exactMatch hgnc.symbol:INSIG2 semapv:UnspecifiedMatching -OMIM:608660 INSIG2 skos:exactMatch ncbigene:51141 semapv:UnspecifiedMatching -OMIM:608661 PODN skos:exactMatch hgnc.symbol:23174 semapv:UnspecifiedMatching -OMIM:608661 PODN skos:exactMatch hgnc.symbol:PODN semapv:UnspecifiedMatching -OMIM:608661 PODN skos:exactMatch ncbigene:127435 semapv:UnspecifiedMatching -OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:27337 semapv:UnspecifiedMatching -OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:ANO5 semapv:UnspecifiedMatching -OMIM:608662 ANO5 skos:exactMatch ncbigene:203859 semapv:UnspecifiedMatching -OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:25240 semapv:UnspecifiedMatching -OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:ANO6 semapv:UnspecifiedMatching -OMIM:608663 ANO6 skos:exactMatch ncbigene:196527 semapv:UnspecifiedMatching -OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:17928 semapv:UnspecifiedMatching -OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:PSMC3IP semapv:UnspecifiedMatching -OMIM:608665 PSMC3IP skos:exactMatch ncbigene:29893 semapv:UnspecifiedMatching -OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:22965 semapv:UnspecifiedMatching -OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:PEX26 semapv:UnspecifiedMatching -OMIM:608666 PEX26 skos:exactMatch ncbigene:55670 semapv:UnspecifiedMatching -OMIM:608667 NIPBL skos:exactMatch UMLS:C1538063 semapv:UnspecifiedMatching -OMIM:608667 NIPBL skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching -OMIM:608667 NIPBL skos:exactMatch hgnc.symbol:28862 semapv:UnspecifiedMatching -OMIM:608667 NIPBL skos:exactMatch hgnc.symbol:NIPBL semapv:UnspecifiedMatching -OMIM:608667 NIPBL skos:exactMatch ncbigene:25836 semapv:UnspecifiedMatching -OMIM:608668 ZMYND11 skos:exactMatch hgnc.symbol:16966 semapv:UnspecifiedMatching -OMIM:608668 ZMYND11 skos:exactMatch hgnc.symbol:ZMYND11 semapv:UnspecifiedMatching -OMIM:608668 ZMYND11 skos:exactMatch ncbigene:10771 semapv:UnspecifiedMatching -OMIM:608669 BNC2 skos:exactMatch UMLS:C1538958 semapv:UnspecifiedMatching -OMIM:608669 BNC2 skos:exactMatch UMLS:C5231427 semapv:UnspecifiedMatching -OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:30988 semapv:UnspecifiedMatching -OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:BNC2 semapv:UnspecifiedMatching -OMIM:608669 BNC2 skos:exactMatch ncbigene:54796 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch UMLS:C1427196 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:20908 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:DZIP1 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch ncbigene:22873 semapv:UnspecifiedMatching -OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:30938 semapv:UnspecifiedMatching -OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:DZIP3 semapv:UnspecifiedMatching -OMIM:608672 DZIP3 skos:exactMatch ncbigene:9666 semapv:UnspecifiedMatching -OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:30418 semapv:UnspecifiedMatching -OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:SH3D19 semapv:UnspecifiedMatching -OMIM:608674 sh3 domain protein 19 skos:exactMatch ncbigene:152503 semapv:UnspecifiedMatching -OMIM:608675 FCSK skos:exactMatch hgnc.symbol:29500 semapv:UnspecifiedMatching -OMIM:608675 FCSK skos:exactMatch hgnc.symbol:FCSK semapv:UnspecifiedMatching -OMIM:608675 FCSK skos:exactMatch ncbigene:197258 semapv:UnspecifiedMatching -OMIM:608676 TXLNA skos:exactMatch hgnc.symbol:30685 semapv:UnspecifiedMatching -OMIM:608676 TXLNA skos:exactMatch hgnc.symbol:TXLNA semapv:UnspecifiedMatching -OMIM:608676 TXLNA skos:exactMatch ncbigene:200081 semapv:UnspecifiedMatching -OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:21086 semapv:UnspecifiedMatching -OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:MIB1 semapv:UnspecifiedMatching -OMIM:608677 MIB1 skos:exactMatch ncbigene:57534 semapv:UnspecifiedMatching -OMIM:608678 IL33 skos:exactMatch UMLS:C1825595 semapv:UnspecifiedMatching -OMIM:608678 IL33 skos:exactMatch hgnc.symbol:16028 semapv:UnspecifiedMatching -OMIM:608678 IL33 skos:exactMatch hgnc.symbol:IL33 semapv:UnspecifiedMatching -OMIM:608678 IL33 skos:exactMatch ncbigene:90865 semapv:UnspecifiedMatching -OMIM:608679 TP53RK skos:exactMatch UMLS:C1540041 semapv:UnspecifiedMatching -OMIM:608679 TP53RK skos:exactMatch UMLS:C4540270 semapv:UnspecifiedMatching -OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:16197 semapv:UnspecifiedMatching -OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:TP53RK semapv:UnspecifiedMatching -OMIM:608679 TP53RK skos:exactMatch ncbigene:112858 semapv:UnspecifiedMatching -OMIM:608680 TPRKB skos:exactMatch hgnc.symbol:24259 semapv:UnspecifiedMatching -OMIM:608680 TPRKB skos:exactMatch hgnc.symbol:TPRKB semapv:UnspecifiedMatching -OMIM:608680 TPRKB skos:exactMatch ncbigene:51002 semapv:UnspecifiedMatching -OMIM:608682 ADM2 skos:exactMatch hgnc.symbol:28898 semapv:UnspecifiedMatching -OMIM:608682 ADM2 skos:exactMatch hgnc.symbol:ADM2 semapv:UnspecifiedMatching -OMIM:608682 ADM2 skos:exactMatch ncbigene:79924 semapv:UnspecifiedMatching -OMIM:608683 CST8 skos:exactMatch hgnc.symbol:2480 semapv:UnspecifiedMatching -OMIM:608683 CST8 skos:exactMatch hgnc.symbol:CST8 semapv:UnspecifiedMatching -OMIM:608683 CST8 skos:exactMatch ncbigene:10047 semapv:UnspecifiedMatching -OMIM:608684 NIN skos:exactMatch hgnc.symbol:14906 semapv:UnspecifiedMatching -OMIM:608684 NIN skos:exactMatch hgnc.symbol:NIN semapv:UnspecifiedMatching -OMIM:608684 NIN skos:exactMatch ncbigene:51199 semapv:UnspecifiedMatching -OMIM:608685 SMC1B skos:exactMatch hgnc.symbol:11112 semapv:UnspecifiedMatching -OMIM:608685 SMC1B skos:exactMatch hgnc.symbol:SMC1B semapv:UnspecifiedMatching -OMIM:608685 SMC1B skos:exactMatch ncbigene:27127 semapv:UnspecifiedMatching -OMIM:608686 RAB3IP skos:exactMatch hgnc.symbol:16508 semapv:UnspecifiedMatching -OMIM:608686 RAB3IP skos:exactMatch hgnc.symbol:RAB3IP semapv:UnspecifiedMatching -OMIM:608686 RAB3IP skos:exactMatch ncbigene:117177 semapv:UnspecifiedMatching -OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch Orphanet:250977 semapv:UnspecifiedMatching -OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch UMLS:C1837530 semapv:UnspecifiedMatching -OMIM:608689 MESP1 skos:exactMatch hgnc.symbol:29658 semapv:UnspecifiedMatching -OMIM:608689 MESP1 skos:exactMatch hgnc.symbol:MESP1 semapv:UnspecifiedMatching -OMIM:608689 MESP1 skos:exactMatch ncbigene:55897 semapv:UnspecifiedMatching -OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:16509 semapv:UnspecifiedMatching -OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:SSX2IP semapv:UnspecifiedMatching -OMIM:608690 SSX2IP skos:exactMatch ncbigene:117178 semapv:UnspecifiedMatching -OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:1065 semapv:UnspecifiedMatching -OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:BLZF1 semapv:UnspecifiedMatching -OMIM:608692 BLZF1 skos:exactMatch ncbigene:8548 semapv:UnspecifiedMatching -OMIM:608693 GORASP2 skos:exactMatch hgnc.symbol:17500 semapv:UnspecifiedMatching -OMIM:608693 GORASP2 skos:exactMatch hgnc.symbol:GORASP2 semapv:UnspecifiedMatching -OMIM:608693 GORASP2 skos:exactMatch ncbigene:26003 semapv:UnspecifiedMatching -OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:30958 semapv:UnspecifiedMatching -OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:ZNF622 semapv:UnspecifiedMatching -OMIM:608694 ZNF622 skos:exactMatch ncbigene:90441 semapv:UnspecifiedMatching -OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:24669 semapv:UnspecifiedMatching -OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:FIGLA semapv:UnspecifiedMatching -OMIM:608697 FIGLA skos:exactMatch ncbigene:344018 semapv:UnspecifiedMatching -OMIM:608698 DCBLD2 skos:exactMatch hgnc.symbol:24627 semapv:UnspecifiedMatching -OMIM:608698 DCBLD2 skos:exactMatch hgnc.symbol:DCBLD2 semapv:UnspecifiedMatching -OMIM:608698 DCBLD2 skos:exactMatch ncbigene:131566 semapv:UnspecifiedMatching -OMIM:608699 BMPER skos:exactMatch UMLS:C1826624 semapv:UnspecifiedMatching -OMIM:608699 BMPER skos:exactMatch UMLS:C1842691 semapv:UnspecifiedMatching -OMIM:608699 BMPER skos:exactMatch hgnc.symbol:24154 semapv:UnspecifiedMatching -OMIM:608699 BMPER skos:exactMatch hgnc.symbol:BMPER semapv:UnspecifiedMatching -OMIM:608699 BMPER skos:exactMatch ncbigene:168667 semapv:UnspecifiedMatching -OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:17877 semapv:UnspecifiedMatching -OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:NMNAT1 semapv:UnspecifiedMatching -OMIM:608700 NMNAT1 skos:exactMatch ncbigene:64802 semapv:UnspecifiedMatching -OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:16789 semapv:UnspecifiedMatching -OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:NMNAT2 semapv:UnspecifiedMatching -OMIM:608701 NMNAT2 skos:exactMatch ncbigene:23057 semapv:UnspecifiedMatching -OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:20989 semapv:UnspecifiedMatching -OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:NMNAT3 semapv:UnspecifiedMatching -OMIM:608702 NMNAT3 skos:exactMatch ncbigene:349565 semapv:UnspecifiedMatching -OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:26057 semapv:UnspecifiedMatching -OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:NMRK1 semapv:UnspecifiedMatching -OMIM:608704 NMRK1 skos:exactMatch ncbigene:54981 semapv:UnspecifiedMatching -OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:17871 semapv:UnspecifiedMatching -OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:NMRK2 semapv:UnspecifiedMatching -OMIM:608705 ITGB1BP3 skos:exactMatch ncbigene:27231 semapv:UnspecifiedMatching -OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:21493 semapv:UnspecifiedMatching -OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:DNAAF4 semapv:UnspecifiedMatching -OMIM:608706 DNAAF4 skos:exactMatch ncbigene:161582 semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch UMLS:C1332740 semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch UMLS:C3280215 semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch hgnc.symbol:17104 semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch hgnc.symbol:CDON semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch ncbigene:50937 semapv:UnspecifiedMatching -OMIM:608708 BOC skos:exactMatch hgnc.symbol:17173 semapv:UnspecifiedMatching -OMIM:608708 BOC skos:exactMatch hgnc.symbol:BOC semapv:UnspecifiedMatching -OMIM:608708 BOC skos:exactMatch ncbigene:91653 semapv:UnspecifiedMatching -OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:17077 semapv:UnspecifiedMatching -OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:CTDSP2 semapv:UnspecifiedMatching -OMIM:608711 CTDSP2 skos:exactMatch ncbigene:10106 semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch UMLS:C1335289 semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:9682 semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:PTPRT semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch ncbigene:11122 semapv:UnspecifiedMatching -OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1427014 semapv:UnspecifiedMatching -OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching -OMIM:608713 CYP2R1 skos:exactMatch hgnc.symbol:20580 semapv:UnspecifiedMatching -OMIM:608713 CYP2R1 skos:exactMatch hgnc.symbol:CYP2R1 semapv:UnspecifiedMatching -OMIM:608713 CYP2R1 skos:exactMatch ncbigene:120227 semapv:UnspecifiedMatching -OMIM:608714 SNTG1 skos:exactMatch hgnc.symbol:13740 semapv:UnspecifiedMatching -OMIM:608714 SNTG1 skos:exactMatch hgnc.symbol:SNTG1 semapv:UnspecifiedMatching -OMIM:608714 SNTG1 skos:exactMatch ncbigene:54212 semapv:UnspecifiedMatching -OMIM:608715 SNTG2 skos:exactMatch hgnc.symbol:13741 semapv:UnspecifiedMatching -OMIM:608715 SNTG2 skos:exactMatch hgnc.symbol:SNTG2 semapv:UnspecifiedMatching -OMIM:608715 SNTG2 skos:exactMatch ncbigene:54221 semapv:UnspecifiedMatching -OMIM:608717 LGALS13 skos:exactMatch hgnc.symbol:15449 semapv:UnspecifiedMatching -OMIM:608717 LGALS13 skos:exactMatch hgnc.symbol:LGALS13 semapv:UnspecifiedMatching -OMIM:608717 LGALS13 skos:exactMatch ncbigene:29124 semapv:UnspecifiedMatching -OMIM:608718 KRTAP13-1 skos:exactMatch hgnc.symbol:18924 semapv:UnspecifiedMatching -OMIM:608718 KRTAP13-1 skos:exactMatch hgnc.symbol:KRTAP13-1 semapv:UnspecifiedMatching -OMIM:608718 KRTAP13-1 skos:exactMatch ncbigene:140258 semapv:UnspecifiedMatching -OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:30763 semapv:UnspecifiedMatching -OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:NR2C2AP semapv:UnspecifiedMatching -OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch ncbigene:126382 semapv:UnspecifiedMatching -OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:24197 semapv:UnspecifiedMatching -OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:CAMK2N2 semapv:UnspecifiedMatching -OMIM:608721 CAMK2N2 skos:exactMatch ncbigene:94032 semapv:UnspecifiedMatching -OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:24205 semapv:UnspecifiedMatching -OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:CAPZA3 semapv:UnspecifiedMatching -OMIM:608722 CAPZA3 skos:exactMatch ncbigene:93661 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch UMLS:C1538627 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:20990 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:PHACTR1 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch ncbigene:221692 semapv:UnspecifiedMatching -OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:20956 semapv:UnspecifiedMatching -OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:PHACTR2 semapv:UnspecifiedMatching -OMIM:608724 PHACTR2 skos:exactMatch ncbigene:9749 semapv:UnspecifiedMatching -OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:15833 semapv:UnspecifiedMatching -OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:PHACTR3 semapv:UnspecifiedMatching -OMIM:608725 PHACTR3 skos:exactMatch ncbigene:116154 semapv:UnspecifiedMatching -OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:25793 semapv:UnspecifiedMatching -OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:PHACTR4 semapv:UnspecifiedMatching -OMIM:608726 PHACTR4 skos:exactMatch ncbigene:65979 semapv:UnspecifiedMatching -OMIM:608727 DET1 skos:exactMatch UMLS:C1539273 semapv:UnspecifiedMatching -OMIM:608727 DET1 skos:exactMatch hgnc.symbol:25477 semapv:UnspecifiedMatching -OMIM:608727 DET1 skos:exactMatch hgnc.symbol:DET1 semapv:UnspecifiedMatching -OMIM:608727 DET1 skos:exactMatch ncbigene:55070 semapv:UnspecifiedMatching -OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch Orphanet:156728 semapv:UnspecifiedMatching -OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching -OMIM:608729 AGTRAP skos:exactMatch hgnc.symbol:13539 semapv:UnspecifiedMatching -OMIM:608729 AGTRAP skos:exactMatch hgnc.symbol:AGTRAP semapv:UnspecifiedMatching -OMIM:608729 AGTRAP skos:exactMatch ncbigene:57085 semapv:UnspecifiedMatching -OMIM:608730 SLC39A5 skos:exactMatch hgnc.symbol:20502 semapv:UnspecifiedMatching -OMIM:608730 SLC39A5 skos:exactMatch hgnc.symbol:SLC39A5 semapv:UnspecifiedMatching -OMIM:608730 SLC39A5 skos:exactMatch ncbigene:283375 semapv:UnspecifiedMatching -OMIM:608731 SLC39A6 skos:exactMatch hgnc.symbol:18607 semapv:UnspecifiedMatching -OMIM:608731 SLC39A6 skos:exactMatch hgnc.symbol:SLC39A6 semapv:UnspecifiedMatching -OMIM:608731 SLC39A6 skos:exactMatch ncbigene:25800 semapv:UnspecifiedMatching -OMIM:608732 SLC39A8 skos:exactMatch hgnc.symbol:20862 semapv:UnspecifiedMatching -OMIM:608732 SLC39A8 skos:exactMatch hgnc.symbol:SLC39A8 semapv:UnspecifiedMatching -OMIM:608732 SLC39A8 skos:exactMatch ncbigene:64116 semapv:UnspecifiedMatching -OMIM:608733 SLC39A10 skos:exactMatch hgnc.symbol:20861 semapv:UnspecifiedMatching -OMIM:608733 SLC39A10 skos:exactMatch hgnc.symbol:SLC39A10 semapv:UnspecifiedMatching -OMIM:608733 SLC39A10 skos:exactMatch ncbigene:57181 semapv:UnspecifiedMatching -OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:20860 semapv:UnspecifiedMatching -OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:SLC39A12 semapv:UnspecifiedMatching -OMIM:608734 SLC39A12 skos:exactMatch ncbigene:221074 semapv:UnspecifiedMatching -OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:20859 semapv:UnspecifiedMatching -OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:SLC39A13 semapv:UnspecifiedMatching -OMIM:608735 SLC39A13 skos:exactMatch ncbigene:91252 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1427165 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1840404 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:20858 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:SLC39A14 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch ncbigene:23516 semapv:UnspecifiedMatching -OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:30265 semapv:UnspecifiedMatching -OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:RAB11FIP1 semapv:UnspecifiedMatching -OMIM:608737 RAB11FIP1 skos:exactMatch ncbigene:80223 semapv:UnspecifiedMatching -OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:17224 semapv:UnspecifiedMatching -OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:RAB11FIP3 semapv:UnspecifiedMatching -OMIM:608738 RAB11FIP3 skos:exactMatch ncbigene:9727 semapv:UnspecifiedMatching -OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:23994 semapv:UnspecifiedMatching -OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:ERI1 semapv:UnspecifiedMatching -OMIM:608739 ERI1 skos:exactMatch ncbigene:90459 semapv:UnspecifiedMatching -OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:29872 semapv:UnspecifiedMatching -OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:NFAM1 semapv:UnspecifiedMatching -OMIM:608740 NFAM1 skos:exactMatch ncbigene:150372 semapv:UnspecifiedMatching -OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:19239 semapv:UnspecifiedMatching -OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:SYT11 semapv:UnspecifiedMatching -OMIM:608741 SYT11 skos:exactMatch ncbigene:23208 semapv:UnspecifiedMatching -OMIM:608743 JSRP1 skos:exactMatch UMLS:C1825641 semapv:UnspecifiedMatching -OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:24963 semapv:UnspecifiedMatching -OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:JSRP1 semapv:UnspecifiedMatching -OMIM:608743 JSRP1 skos:exactMatch ncbigene:126306 semapv:UnspecifiedMatching -OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:20662 semapv:UnspecifiedMatching -OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:SLC25A24 semapv:UnspecifiedMatching -OMIM:608744 SLC25A24 skos:exactMatch ncbigene:29957 semapv:UnspecifiedMatching -OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:20663 semapv:UnspecifiedMatching -OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:SLC25A25 semapv:UnspecifiedMatching -OMIM:608745 SLC25A25 skos:exactMatch ncbigene:114789 semapv:UnspecifiedMatching -OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:19375 semapv:UnspecifiedMatching -OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:SLC25A23 semapv:UnspecifiedMatching -OMIM:608746 SLC25A23 skos:exactMatch ncbigene:79085 semapv:UnspecifiedMatching -OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:20869 semapv:UnspecifiedMatching -OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:BMP10 semapv:UnspecifiedMatching -OMIM:608748 BMP10 skos:exactMatch ncbigene:27302 semapv:UnspecifiedMatching -OMIM:608749 BRD4 skos:exactMatch UMLS:C1422073 semapv:UnspecifiedMatching -OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:13575 semapv:UnspecifiedMatching -OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:BRD4 semapv:UnspecifiedMatching -OMIM:608749 BRD4 skos:exactMatch ncbigene:23476 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch UMLS:C1427879 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch UMLS:C1832736 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:23056 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:ALG3 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch ncbigene:10195 semapv:UnspecifiedMatching -OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:14344 semapv:UnspecifiedMatching -OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:C1QTNF5 semapv:UnspecifiedMatching -OMIM:608752 C1QTNF5 skos:exactMatch ncbigene:114902 semapv:UnspecifiedMatching -OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:28422 semapv:UnspecifiedMatching -OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:TSEN2 semapv:UnspecifiedMatching -OMIM:608753 TSEN2 skos:exactMatch ncbigene:80746 semapv:UnspecifiedMatching -OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:15506 semapv:UnspecifiedMatching -OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:TSEN34 semapv:UnspecifiedMatching -OMIM:608754 TSEN34 skos:exactMatch ncbigene:79042 semapv:UnspecifiedMatching -OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:27561 semapv:UnspecifiedMatching -OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:TSEN54 semapv:UnspecifiedMatching -OMIM:608755 TSEN54 skos:exactMatch ncbigene:283989 semapv:UnspecifiedMatching -OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:16791 semapv:UnspecifiedMatching -OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:TSEN15 semapv:UnspecifiedMatching -OMIM:608756 TSEN15 skos:exactMatch ncbigene:116461 semapv:UnspecifiedMatching -OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:16999 semapv:UnspecifiedMatching -OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:CLP1 semapv:UnspecifiedMatching -OMIM:608757 CLP1 skos:exactMatch ncbigene:10978 semapv:UnspecifiedMatching -OMIM:608759 CYGB skos:exactMatch hgnc.symbol:16505 semapv:UnspecifiedMatching -OMIM:608759 CYGB skos:exactMatch hgnc.symbol:CYGB semapv:UnspecifiedMatching -OMIM:608759 CYGB skos:exactMatch ncbigene:114757 semapv:UnspecifiedMatching -OMIM:608760 ATG7 skos:exactMatch UMLS:C1825498 semapv:UnspecifiedMatching -OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:16935 semapv:UnspecifiedMatching -OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:ATG7 semapv:UnspecifiedMatching -OMIM:608760 ATG7 skos:exactMatch ncbigene:10533 semapv:UnspecifiedMatching -OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:14025 semapv:UnspecifiedMatching -OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:SLC5A7 semapv:UnspecifiedMatching -OMIM:608761 SLC5A7 skos:exactMatch ncbigene:60482 semapv:UnspecifiedMatching -OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:30092 semapv:UnspecifiedMatching -OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:NAMPT semapv:UnspecifiedMatching -OMIM:608764 NAMPT skos:exactMatch ncbigene:10135 semapv:UnspecifiedMatching -OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:6693 semapv:UnspecifiedMatching -OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:LRP1B semapv:UnspecifiedMatching -OMIM:608766 LRP1B skos:exactMatch ncbigene:53353 semapv:UnspecifiedMatching -OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:16933 semapv:UnspecifiedMatching -OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:FEM1C semapv:UnspecifiedMatching -OMIM:608767 FEM1C skos:exactMatch ncbigene:56929 semapv:UnspecifiedMatching -OMIM:608769 PDHX skos:exactMatch hgnc.symbol:21350 semapv:UnspecifiedMatching -OMIM:608769 PDHX skos:exactMatch hgnc.symbol:PDHX semapv:UnspecifiedMatching -OMIM:608769 PDHX skos:exactMatch ncbigene:8050 semapv:UnspecifiedMatching -OMIM:608770 DLAT skos:exactMatch hgnc.symbol:2896 semapv:UnspecifiedMatching -OMIM:608770 DLAT skos:exactMatch hgnc.symbol:DLAT semapv:UnspecifiedMatching -OMIM:608770 DLAT skos:exactMatch ncbigene:1737 semapv:UnspecifiedMatching -OMIM:608771 MED13L skos:exactMatch hgnc.symbol:22962 semapv:UnspecifiedMatching -OMIM:608771 MED13L skos:exactMatch hgnc.symbol:MED13L semapv:UnspecifiedMatching -OMIM:608771 MED13L skos:exactMatch ncbigene:23389 semapv:UnspecifiedMatching -OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:25715 semapv:UnspecifiedMatching -OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:MIIP semapv:UnspecifiedMatching -OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch ncbigene:60672 semapv:UnspecifiedMatching -OMIM:608773 TPPP skos:exactMatch hgnc.symbol:24164 semapv:UnspecifiedMatching -OMIM:608773 TPPP skos:exactMatch hgnc.symbol:TPPP semapv:UnspecifiedMatching -OMIM:608773 TPPP skos:exactMatch ncbigene:11076 semapv:UnspecifiedMatching -OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:21027 semapv:UnspecifiedMatching -OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:ANKK1 semapv:UnspecifiedMatching -OMIM:608774 ANKK1 skos:exactMatch ncbigene:255239 semapv:UnspecifiedMatching -OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:25174 semapv:UnspecifiedMatching -OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:HAUS1 semapv:UnspecifiedMatching -OMIM:608775 HAUS1 skos:exactMatch ncbigene:115106 semapv:UnspecifiedMatching -OMIM:608777 POSTN skos:exactMatch hgnc.symbol:16953 semapv:UnspecifiedMatching -OMIM:608777 POSTN skos:exactMatch hgnc.symbol:POSTN semapv:UnspecifiedMatching -OMIM:608777 POSTN skos:exactMatch ncbigene:10631 semapv:UnspecifiedMatching -OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:18829 semapv:UnspecifiedMatching -OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:KLHL10 semapv:UnspecifiedMatching -OMIM:608778 KLHL10 skos:exactMatch ncbigene:317719 semapv:UnspecifiedMatching -OMIM:608780 GTF2H5 skos:exactMatch UMLS:C1539623 semapv:UnspecifiedMatching -OMIM:608780 GTF2H5 skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching -OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:21157 semapv:UnspecifiedMatching -OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:GTF2H5 semapv:UnspecifiedMatching -OMIM:608780 GTF2H5 skos:exactMatch ncbigene:404672 semapv:UnspecifiedMatching -OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching -OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching -OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching -OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:15513 semapv:UnspecifiedMatching -OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:SMYD3 semapv:UnspecifiedMatching -OMIM:608783 SMYD3 skos:exactMatch ncbigene:64754 semapv:UnspecifiedMatching -OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:18474 semapv:UnspecifiedMatching -OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:ZDHHC8 semapv:UnspecifiedMatching -OMIM:608784 ZDHHC8 skos:exactMatch ncbigene:29801 semapv:UnspecifiedMatching -OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:30406 semapv:UnspecifiedMatching -OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:HTRA3 semapv:UnspecifiedMatching -OMIM:608785 HTRA3 skos:exactMatch ncbigene:94031 semapv:UnspecifiedMatching -OMIM:608786 PC skos:exactMatch hgnc.symbol:8636 semapv:UnspecifiedMatching -OMIM:608786 PC skos:exactMatch hgnc.symbol:PC semapv:UnspecifiedMatching -OMIM:608786 PC skos:exactMatch ncbigene:5091 semapv:UnspecifiedMatching -OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:29846 semapv:UnspecifiedMatching -OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:SOCS7 semapv:UnspecifiedMatching -OMIM:608788 SOCS7 skos:exactMatch ncbigene:30837 semapv:UnspecifiedMatching -OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:29847 semapv:UnspecifiedMatching -OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:NCKAP5 semapv:UnspecifiedMatching -OMIM:608789 NCKAP5 skos:exactMatch ncbigene:344148 semapv:UnspecifiedMatching -OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:30781 semapv:UnspecifiedMatching -OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:TADA2B semapv:UnspecifiedMatching -OMIM:608790 TADA2B skos:exactMatch ncbigene:93624 semapv:UnspecifiedMatching -OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:25179 semapv:UnspecifiedMatching -OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:NXNL1 semapv:UnspecifiedMatching -OMIM:608791 NXNL1 skos:exactMatch ncbigene:115861 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch UMLS:C1825353 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:18183 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:GIPC3 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch ncbigene:126326 semapv:UnspecifiedMatching -OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:30615 semapv:UnspecifiedMatching -OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:SPECC1 semapv:UnspecifiedMatching -OMIM:608793 SPECC1 skos:exactMatch ncbigene:92521 semapv:UnspecifiedMatching -OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:9003 semapv:UnspecifiedMatching -OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:PITPNM1 semapv:UnspecifiedMatching -OMIM:608794 PITPNM1 skos:exactMatch ncbigene:9600 semapv:UnspecifiedMatching -OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:9061 semapv:UnspecifiedMatching -OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:PLCD3 semapv:UnspecifiedMatching -OMIM:608795 PLCD3 skos:exactMatch ncbigene:113026 semapv:UnspecifiedMatching -OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:28613 semapv:UnspecifiedMatching -OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:MEI1 semapv:UnspecifiedMatching -OMIM:608797 MEI1 skos:exactMatch ncbigene:150365 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch UMLS:C1414006 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch hgnc.symbol:2810 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch hgnc.symbol:GSDME semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch ncbigene:1687 semapv:UnspecifiedMatching -OMIM:608801 GCDH skos:exactMatch hgnc.symbol:4189 semapv:UnspecifiedMatching -OMIM:608801 GCDH skos:exactMatch hgnc.symbol:GCDH semapv:UnspecifiedMatching -OMIM:608801 GCDH skos:exactMatch ncbigene:2639 semapv:UnspecifiedMatching -OMIM:608802 L3MBTL1 skos:exactMatch UMLS:C1423822 semapv:UnspecifiedMatching -OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:15905 semapv:UnspecifiedMatching -OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:L3MBTL1 semapv:UnspecifiedMatching -OMIM:608802 L3MBTL1 skos:exactMatch ncbigene:26013 semapv:UnspecifiedMatching -OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:17494 semapv:UnspecifiedMatching -OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:GJC2 semapv:UnspecifiedMatching -OMIM:608803 GJC2 skos:exactMatch ncbigene:57165 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch UMLS:C1826340 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:23219 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:NAALADL2 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch ncbigene:254827 semapv:UnspecifiedMatching -OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch Orphanet:399058 semapv:UnspecifiedMatching -OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching -OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:28454 semapv:UnspecifiedMatching -OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:DERL1 semapv:UnspecifiedMatching -OMIM:608813 DERL1 skos:exactMatch ncbigene:79139 semapv:UnspecifiedMatching -OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:16406 semapv:UnspecifiedMatching -OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:EFHC1 semapv:UnspecifiedMatching -OMIM:608815 EFHC1 skos:exactMatch ncbigene:114327 semapv:UnspecifiedMatching -OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:29317 semapv:UnspecifiedMatching -OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:LRRC4C semapv:UnspecifiedMatching -OMIM:608817 LRRC4C skos:exactMatch ncbigene:57689 semapv:UnspecifiedMatching -OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:23319 semapv:UnspecifiedMatching -OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:NTNG1 semapv:UnspecifiedMatching -OMIM:608818 NTNG1 skos:exactMatch ncbigene:22854 semapv:UnspecifiedMatching -OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:16772 semapv:UnspecifiedMatching -OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:KRTAP1-1 semapv:UnspecifiedMatching -OMIM:608819 KRTAP1-1 skos:exactMatch ncbigene:81851 semapv:UnspecifiedMatching -OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:16771 semapv:UnspecifiedMatching -OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:KRTAP1-3 semapv:UnspecifiedMatching -OMIM:608820 KRTAP1-3 skos:exactMatch ncbigene:81850 semapv:UnspecifiedMatching -OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:18904 semapv:UnspecifiedMatching -OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:KRTAP1-4 semapv:UnspecifiedMatching -OMIM:608821 KRTAP1-4 skos:exactMatch ncbigene:728255 semapv:UnspecifiedMatching -OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:16777 semapv:UnspecifiedMatching -OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:KRTAP1-5 semapv:UnspecifiedMatching -OMIM:608822 KRTAP1-5 skos:exactMatch ncbigene:83895 semapv:UnspecifiedMatching -OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:16721 semapv:UnspecifiedMatching -OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:CGB1 semapv:UnspecifiedMatching -OMIM:608823 CGB1 skos:exactMatch ncbigene:114335 semapv:UnspecifiedMatching -OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:16722 semapv:UnspecifiedMatching -OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:CGB2 semapv:UnspecifiedMatching -OMIM:608824 CGB2 skos:exactMatch ncbigene:114336 semapv:UnspecifiedMatching -OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:16452 semapv:UnspecifiedMatching -OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:CGB5 semapv:UnspecifiedMatching -OMIM:608825 CGB5 skos:exactMatch ncbigene:93659 semapv:UnspecifiedMatching -OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:16451 semapv:UnspecifiedMatching -OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:CGB7 semapv:UnspecifiedMatching -OMIM:608826 CGB7 skos:exactMatch ncbigene:94027 semapv:UnspecifiedMatching -OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:16453 semapv:UnspecifiedMatching -OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:CGB8 semapv:UnspecifiedMatching -OMIM:608827 CGB8 skos:exactMatch ncbigene:94115 semapv:UnspecifiedMatching -OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:17904 semapv:UnspecifiedMatching -OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:DROSHA semapv:UnspecifiedMatching -OMIM:608828 DROSHA skos:exactMatch ncbigene:29102 semapv:UnspecifiedMatching -OMIM:608829 SUMO4 skos:exactMatch UMLS:C1539897 semapv:UnspecifiedMatching -OMIM:608829 SUMO4 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching -OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:21181 semapv:UnspecifiedMatching -OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:SUMO4 semapv:UnspecifiedMatching -OMIM:608829 SUMO4 skos:exactMatch ncbigene:387082 semapv:UnspecifiedMatching -OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:19977 semapv:UnspecifiedMatching -OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:RDH12 semapv:UnspecifiedMatching -OMIM:608830 RDH12 skos:exactMatch ncbigene:145226 semapv:UnspecifiedMatching -OMIM:608832 GREM2 skos:exactMatch UMLS:C1539615 semapv:UnspecifiedMatching -OMIM:608832 GREM2 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching -OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:17655 semapv:UnspecifiedMatching -OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:GREM2 semapv:UnspecifiedMatching -OMIM:608832 GREM2 skos:exactMatch ncbigene:64388 semapv:UnspecifiedMatching -OMIM:608833 RTEL1 skos:exactMatch hgnc.symbol:15888 semapv:UnspecifiedMatching -OMIM:608833 RTEL1 skos:exactMatch hgnc.symbol:RTEL1 semapv:UnspecifiedMatching -OMIM:608833 RTEL1 skos:exactMatch ncbigene:51750 semapv:UnspecifiedMatching -OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:23720 semapv:UnspecifiedMatching -OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:CREB3L2 semapv:UnspecifiedMatching -OMIM:608834 CREB3L2 skos:exactMatch ncbigene:64764 semapv:UnspecifiedMatching -OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:16022 semapv:UnspecifiedMatching -OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:ABCC13 semapv:UnspecifiedMatching -OMIM:608835 ABCC13 skos:exactMatch ncbigene:150000 semapv:UnspecifiedMatching -OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:21492 semapv:UnspecifiedMatching -OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:VKORC1L1 semapv:UnspecifiedMatching -OMIM:608838 VKORC1L1 skos:exactMatch ncbigene:154807 semapv:UnspecifiedMatching -OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:13249 semapv:UnspecifiedMatching -OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:CAPN12 semapv:UnspecifiedMatching -OMIM:608839 CAPN12 skos:exactMatch ncbigene:147968 semapv:UnspecifiedMatching -OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching -OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:98894 semapv:UnspecifiedMatching -OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching -OMIM:608841 CPAMD8 skos:exactMatch hgnc.symbol:23228 semapv:UnspecifiedMatching -OMIM:608841 CPAMD8 skos:exactMatch hgnc.symbol:CPAMD8 semapv:UnspecifiedMatching -OMIM:608841 CPAMD8 skos:exactMatch ncbigene:27151 semapv:UnspecifiedMatching -OMIM:608842 CHCHD1 skos:exactMatch hgnc.symbol:23518 semapv:UnspecifiedMatching -OMIM:608842 CHCHD1 skos:exactMatch hgnc.symbol:CHCHD1 semapv:UnspecifiedMatching -OMIM:608842 CHCHD1 skos:exactMatch ncbigene:118487 semapv:UnspecifiedMatching -OMIM:608843 vasorin skos:exactMatch hgnc.symbol:18517 semapv:UnspecifiedMatching -OMIM:608843 vasorin skos:exactMatch hgnc.symbol:VASN semapv:UnspecifiedMatching -OMIM:608843 vasorin skos:exactMatch ncbigene:114990 semapv:UnspecifiedMatching -OMIM:608844 NEIL1 skos:exactMatch hgnc.symbol:18448 semapv:UnspecifiedMatching -OMIM:608844 NEIL1 skos:exactMatch hgnc.symbol:NEIL1 semapv:UnspecifiedMatching -OMIM:608844 NEIL1 skos:exactMatch ncbigene:79661 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch UMLS:C1421880 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:13210 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:ARL6 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch ncbigene:84100 semapv:UnspecifiedMatching -OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:18540 semapv:UnspecifiedMatching -OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:CPT1C semapv:UnspecifiedMatching -OMIM:608846 CPT1C skos:exactMatch ncbigene:126129 semapv:UnspecifiedMatching -OMIM:608847 FTMT skos:exactMatch hgnc.symbol:17345 semapv:UnspecifiedMatching -OMIM:608847 FTMT skos:exactMatch hgnc.symbol:FTMT semapv:UnspecifiedMatching -OMIM:608847 FTMT skos:exactMatch ncbigene:94033 semapv:UnspecifiedMatching -OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:20851 semapv:UnspecifiedMatching -OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:FNBP1L semapv:UnspecifiedMatching -OMIM:608848 FNBP1L skos:exactMatch ncbigene:54874 semapv:UnspecifiedMatching -OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:19683 semapv:UnspecifiedMatching -OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:UHMK1 semapv:UnspecifiedMatching -OMIM:608849 UHMK1 skos:exactMatch ncbigene:127933 semapv:UnspecifiedMatching -OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:12836 semapv:UnspecifiedMatching -OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:XRN2 semapv:UnspecifiedMatching -OMIM:608851 XRN2 skos:exactMatch ncbigene:22803 semapv:UnspecifiedMatching -OMIM:608853 BLID skos:exactMatch hgnc.symbol:33495 semapv:UnspecifiedMatching -OMIM:608853 BLID skos:exactMatch hgnc.symbol:BLID semapv:UnspecifiedMatching -OMIM:608853 BLID skos:exactMatch ncbigene:414899 semapv:UnspecifiedMatching -OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:29971 semapv:UnspecifiedMatching -OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:OSCP1 semapv:UnspecifiedMatching -OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch ncbigene:127700 semapv:UnspecifiedMatching -OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:13877 semapv:UnspecifiedMatching -OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:TTYH2 semapv:UnspecifiedMatching -OMIM:608855 TTYH2 skos:exactMatch ncbigene:94015 semapv:UnspecifiedMatching -OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:24346 semapv:UnspecifiedMatching -OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:CTAGE1 semapv:UnspecifiedMatching -OMIM:608856 CTAGE1 skos:exactMatch ncbigene:64693 semapv:UnspecifiedMatching -OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:24348 semapv:UnspecifiedMatching -OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:CTAGE3P semapv:UnspecifiedMatching -OMIM:608857 CTAGE3 skos:exactMatch ncbigene:220112 semapv:UnspecifiedMatching -OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:23098 semapv:UnspecifiedMatching -OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:FGFR1OP2 semapv:UnspecifiedMatching -OMIM:608858 FGFR1OP2 skos:exactMatch ncbigene:26127 semapv:UnspecifiedMatching -OMIM:608859 CD109 skos:exactMatch hgnc.symbol:21685 semapv:UnspecifiedMatching -OMIM:608859 CD109 skos:exactMatch hgnc.symbol:CD109 semapv:UnspecifiedMatching -OMIM:608859 CD109 skos:exactMatch ncbigene:135228 semapv:UnspecifiedMatching -OMIM:608860 ASTL skos:exactMatch hgnc.symbol:31704 semapv:UnspecifiedMatching -OMIM:608860 ASTL skos:exactMatch hgnc.symbol:ASTL semapv:UnspecifiedMatching -OMIM:608860 ASTL skos:exactMatch ncbigene:431705 semapv:UnspecifiedMatching -OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:18303 semapv:UnspecifiedMatching -OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:ATP6V1H semapv:UnspecifiedMatching -OMIM:608861 ATP6V1H skos:exactMatch ncbigene:51606 semapv:UnspecifiedMatching -OMIM:608862 NAXE skos:exactMatch hgnc.symbol:18453 semapv:UnspecifiedMatching -OMIM:608862 NAXE skos:exactMatch hgnc.symbol:NAXE semapv:UnspecifiedMatching -OMIM:608862 NAXE skos:exactMatch ncbigene:128240 semapv:UnspecifiedMatching -OMIM:608863 PDPN skos:exactMatch hgnc.symbol:29602 semapv:UnspecifiedMatching -OMIM:608863 PDPN skos:exactMatch hgnc.symbol:PDPN semapv:UnspecifiedMatching -OMIM:608863 PDPN skos:exactMatch ncbigene:10630 semapv:UnspecifiedMatching -OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch UMLS:C1837213 semapv:UnspecifiedMatching -OMIM:608865 URB1 skos:exactMatch hgnc.symbol:17344 semapv:UnspecifiedMatching -OMIM:608865 URB1 skos:exactMatch hgnc.symbol:URB1 semapv:UnspecifiedMatching -OMIM:608865 URB1 skos:exactMatch ncbigene:9875 semapv:UnspecifiedMatching -OMIM:608866 FRA10AC1 skos:exactMatch hgnc.symbol:1162 semapv:UnspecifiedMatching -OMIM:608866 FRA10AC1 skos:exactMatch hgnc.symbol:FRA10AC1 semapv:UnspecifiedMatching -OMIM:608866 FRA10AC1 skos:exactMatch ncbigene:118924 semapv:UnspecifiedMatching -OMIM:608867 DUSP10 skos:exactMatch hgnc.symbol:3065 semapv:UnspecifiedMatching -OMIM:608867 DUSP10 skos:exactMatch hgnc.symbol:DUSP10 semapv:UnspecifiedMatching -OMIM:608867 DUSP10 skos:exactMatch ncbigene:11221 semapv:UnspecifiedMatching -OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:17360 semapv:UnspecifiedMatching -OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:LRIG1 semapv:UnspecifiedMatching -OMIM:608868 LRIG1 skos:exactMatch ncbigene:26018 semapv:UnspecifiedMatching -OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:20889 semapv:UnspecifiedMatching -OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:LRIG2 semapv:UnspecifiedMatching -OMIM:608869 LRIG2 skos:exactMatch ncbigene:9860 semapv:UnspecifiedMatching -OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:30991 semapv:UnspecifiedMatching -OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:LRIG3 semapv:UnspecifiedMatching -OMIM:608870 LRIG3 skos:exactMatch ncbigene:121227 semapv:UnspecifiedMatching -OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:23619 semapv:UnspecifiedMatching -OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:NIPSNAP3A semapv:UnspecifiedMatching -OMIM:608871 NIPSNAP3A skos:exactMatch ncbigene:25934 semapv:UnspecifiedMatching -OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:23641 semapv:UnspecifiedMatching -OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:NIPSNAP3B semapv:UnspecifiedMatching -OMIM:608872 NIPSNAP3B skos:exactMatch ncbigene:55335 semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch UMLS:C1419957 semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:10739 semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:SEMA6B semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch ncbigene:10501 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching -OMIM:608876 PCF11 skos:exactMatch UMLS:C1826547 semapv:UnspecifiedMatching -OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:30097 semapv:UnspecifiedMatching -OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:PCF11 semapv:UnspecifiedMatching -OMIM:608876 PCF11 skos:exactMatch ncbigene:51585 semapv:UnspecifiedMatching -OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:23595 semapv:UnspecifiedMatching -OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:VPS13D semapv:UnspecifiedMatching -OMIM:608877 VPS13D skos:exactMatch ncbigene:55187 semapv:UnspecifiedMatching -OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:23594 semapv:UnspecifiedMatching -OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:VPS13C semapv:UnspecifiedMatching -OMIM:608879 VPS13C skos:exactMatch ncbigene:54832 semapv:UnspecifiedMatching -OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:20756 semapv:UnspecifiedMatching -OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:ZFYVE16 semapv:UnspecifiedMatching -OMIM:608880 ZFYVE16 skos:exactMatch ncbigene:9765 semapv:UnspecifiedMatching -OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:24693 semapv:UnspecifiedMatching -OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:MICAL2 semapv:UnspecifiedMatching -OMIM:608881 MICAL2 skos:exactMatch ncbigene:9645 semapv:UnspecifiedMatching -OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:24694 semapv:UnspecifiedMatching -OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:MICAL3 semapv:UnspecifiedMatching -OMIM:608882 MICAL3 skos:exactMatch ncbigene:57553 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C1425072 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:17770 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:RALGAPA1 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch ncbigene:253959 semapv:UnspecifiedMatching -OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:30022 semapv:UnspecifiedMatching -OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:PPARGC1B semapv:UnspecifiedMatching -OMIM:608886 PPARGC1B skos:exactMatch ncbigene:133522 semapv:UnspecifiedMatching -OMIM:608887 PURB skos:exactMatch hgnc.symbol:9702 semapv:UnspecifiedMatching -OMIM:608887 PURB skos:exactMatch hgnc.symbol:PURB semapv:UnspecifiedMatching -OMIM:608887 PURB skos:exactMatch ncbigene:5814 semapv:UnspecifiedMatching -OMIM:608888 RBM45 skos:exactMatch hgnc.symbol:24468 semapv:UnspecifiedMatching -OMIM:608888 RBM45 skos:exactMatch hgnc.symbol:RBM45 semapv:UnspecifiedMatching -OMIM:608888 RBM45 skos:exactMatch ncbigene:129831 semapv:UnspecifiedMatching -OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:19288 semapv:UnspecifiedMatching -OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:ACMSD semapv:UnspecifiedMatching -OMIM:608889 ACMSD skos:exactMatch ncbigene:130013 semapv:UnspecifiedMatching -OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:8111 semapv:UnspecifiedMatching -OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:OSR1 semapv:UnspecifiedMatching -OMIM:608891 OSR1 skos:exactMatch ncbigene:130497 semapv:UnspecifiedMatching -OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:20626 semapv:UnspecifiedMatching -OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:CHD7 semapv:UnspecifiedMatching -OMIM:608892 CHD7 skos:exactMatch ncbigene:55636 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0543541 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch UMLS:C1428660 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch UMLS:C3148959 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:27960 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:SLC6A19 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch ncbigene:340024 semapv:UnspecifiedMatching -OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:21575 semapv:UnspecifiedMatching -OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:AHI1 semapv:UnspecifiedMatching -OMIM:608894 AHI1 skos:exactMatch ncbigene:54806 semapv:UnspecifiedMatching -OMIM:608896 SGCG skos:exactMatch hgnc.symbol:10809 semapv:UnspecifiedMatching -OMIM:608896 SGCG skos:exactMatch hgnc.symbol:SGCG semapv:UnspecifiedMatching -OMIM:608896 SGCG skos:exactMatch ncbigene:6445 semapv:UnspecifiedMatching -OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:23147 semapv:UnspecifiedMatching -OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:UNC13D semapv:UnspecifiedMatching -OMIM:608897 UNC13D skos:exactMatch ncbigene:201294 semapv:UnspecifiedMatching -OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching -OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch UMLS:C1837174 semapv:UnspecifiedMatching -OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc.symbol:30775 semapv:UnspecifiedMatching -OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc.symbol:GTF2IRD2 semapv:UnspecifiedMatching -OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch ncbigene:84163 semapv:UnspecifiedMatching -OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:33125 semapv:UnspecifiedMatching -OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:GTF2IRD2B semapv:UnspecifiedMatching -OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch ncbigene:389524 semapv:UnspecifiedMatching -OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C1837149 semapv:UnspecifiedMatching -OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching -OMIM:608909 ARL5B skos:exactMatch UMLS:C1824206 semapv:UnspecifiedMatching -OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:23052 semapv:UnspecifiedMatching -OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:ARL5B semapv:UnspecifiedMatching -OMIM:608909 ARL5B skos:exactMatch ncbigene:221079 semapv:UnspecifiedMatching -OMIM:608910 CTAGE4 skos:exactMatch hgnc.symbol:24772 semapv:UnspecifiedMatching -OMIM:608910 CTAGE4 skos:exactMatch hgnc.symbol:CTAGE4 semapv:UnspecifiedMatching -OMIM:608910 CTAGE4 skos:exactMatch ncbigene:100128553 semapv:UnspecifiedMatching -OMIM:608912 POTEB skos:exactMatch hgnc.symbol:33734 semapv:UnspecifiedMatching -OMIM:608912 POTEB skos:exactMatch hgnc.symbol:POTEB semapv:UnspecifiedMatching -OMIM:608912 POTEB skos:exactMatch ncbigene:100996331 semapv:UnspecifiedMatching -OMIM:608913 POTEH skos:exactMatch hgnc.symbol:133 semapv:UnspecifiedMatching -OMIM:608913 POTEH skos:exactMatch hgnc.symbol:POTEH semapv:UnspecifiedMatching -OMIM:608913 POTEH skos:exactMatch ncbigene:23784 semapv:UnspecifiedMatching -OMIM:608914 POTEE skos:exactMatch hgnc.symbol:33895 semapv:UnspecifiedMatching -OMIM:608914 POTEE skos:exactMatch hgnc.symbol:POTEE semapv:UnspecifiedMatching -OMIM:608914 POTEE skos:exactMatch ncbigene:445582 semapv:UnspecifiedMatching -OMIM:608915 POTEA skos:exactMatch hgnc.symbol:33893 semapv:UnspecifiedMatching -OMIM:608915 POTEA skos:exactMatch hgnc.symbol:POTEA semapv:UnspecifiedMatching -OMIM:608915 POTEA skos:exactMatch ncbigene:340441 semapv:UnspecifiedMatching -OMIM:608916 POTEG skos:exactMatch hgnc.symbol:33896 semapv:UnspecifiedMatching -OMIM:608916 POTEG skos:exactMatch hgnc.symbol:POTEG semapv:UnspecifiedMatching -OMIM:608916 POTEG skos:exactMatch ncbigene:404785 semapv:UnspecifiedMatching -OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:18803 semapv:UnspecifiedMatching -OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:ATPAF1 semapv:UnspecifiedMatching -OMIM:608917 ATPAF1 skos:exactMatch ncbigene:64756 semapv:UnspecifiedMatching -OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:18802 semapv:UnspecifiedMatching -OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:ATPAF2 semapv:UnspecifiedMatching -OMIM:608918 ATPAF2 skos:exactMatch ncbigene:91647 semapv:UnspecifiedMatching -OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:22222 semapv:UnspecifiedMatching -OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:TTYH3 semapv:UnspecifiedMatching -OMIM:608919 TTYH3 skos:exactMatch ncbigene:80727 semapv:UnspecifiedMatching -OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:21044 semapv:UnspecifiedMatching -OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:PITPNM2 semapv:UnspecifiedMatching -OMIM:608920 PITPNM2 skos:exactMatch ncbigene:57605 semapv:UnspecifiedMatching -OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:21043 semapv:UnspecifiedMatching -OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:PITPNM3 semapv:UnspecifiedMatching -OMIM:608921 PITPNM3 skos:exactMatch ncbigene:83394 semapv:UnspecifiedMatching -OMIM:608922 ARL13B skos:exactMatch UMLS:C1824213 semapv:UnspecifiedMatching -OMIM:608922 ARL13B skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching -OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:25419 semapv:UnspecifiedMatching -OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:ARL13B semapv:UnspecifiedMatching -OMIM:608922 ARL13B skos:exactMatch ncbigene:200894 semapv:UnspecifiedMatching -OMIM:608923 TAAR6 skos:exactMatch hgnc.symbol:20978 semapv:UnspecifiedMatching -OMIM:608923 TAAR6 skos:exactMatch hgnc.symbol:TAAR6 semapv:UnspecifiedMatching -OMIM:608923 TAAR6 skos:exactMatch ncbigene:319100 semapv:UnspecifiedMatching -OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:20842 semapv:UnspecifiedMatching -OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:FOXP4 semapv:UnspecifiedMatching -OMIM:608924 FOXP4 skos:exactMatch ncbigene:116113 semapv:UnspecifiedMatching -OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:19888 semapv:UnspecifiedMatching -OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:MMRN2 semapv:UnspecifiedMatching -OMIM:608925 MMRN2 skos:exactMatch ncbigene:79812 semapv:UnspecifiedMatching -OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:18036 semapv:UnspecifiedMatching -OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:EMID1 semapv:UnspecifiedMatching -OMIM:608926 EMID1 skos:exactMatch ncbigene:129080 semapv:UnspecifiedMatching -OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:18038 semapv:UnspecifiedMatching -OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:COL26A1 semapv:UnspecifiedMatching -OMIM:608927 EMID2 skos:exactMatch ncbigene:136227 semapv:UnspecifiedMatching -OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:19881 semapv:UnspecifiedMatching -OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:EMILIN2 semapv:UnspecifiedMatching -OMIM:608928 EMILIN2 skos:exactMatch ncbigene:84034 semapv:UnspecifiedMatching -OMIM:608929 EMILIN3 skos:exactMatch hgnc.symbol:16123 semapv:UnspecifiedMatching -OMIM:608929 EMILIN3 skos:exactMatch hgnc.symbol:EMILIN3 semapv:UnspecifiedMatching -OMIM:608929 EMILIN3 skos:exactMatch ncbigene:90187 semapv:UnspecifiedMatching -OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching -OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching -OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch UMLS:C1837091 semapv:UnspecifiedMatching -OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:18956 semapv:UnspecifiedMatching -OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:NEIL2 semapv:UnspecifiedMatching -OMIM:608933 NEIL2 skos:exactMatch ncbigene:252969 semapv:UnspecifiedMatching -OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:24573 semapv:UnspecifiedMatching -OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:NEIL3 semapv:UnspecifiedMatching -OMIM:608934 NEIL3 skos:exactMatch ncbigene:55247 semapv:UnspecifiedMatching -OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:17279 semapv:UnspecifiedMatching -OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:OPRPN semapv:UnspecifiedMatching -OMIM:608936 OPRPN skos:exactMatch ncbigene:58503 semapv:UnspecifiedMatching -OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:30417 semapv:UnspecifiedMatching -OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:SH2B1 semapv:UnspecifiedMatching -OMIM:608937 SH2B1 skos:exactMatch ncbigene:25970 semapv:UnspecifiedMatching -OMIM:608938 RPS6KB1 skos:exactMatch hgnc.symbol:10436 semapv:UnspecifiedMatching -OMIM:608938 RPS6KB1 skos:exactMatch hgnc.symbol:RPS6KB1 semapv:UnspecifiedMatching -OMIM:608938 RPS6KB1 skos:exactMatch ncbigene:6198 semapv:UnspecifiedMatching -OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:10437 semapv:UnspecifiedMatching -OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:RPS6KB2 semapv:UnspecifiedMatching -OMIM:608939 RPS6KB2 skos:exactMatch ncbigene:6199 semapv:UnspecifiedMatching -OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:4405 semapv:UnspecifiedMatching -OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:GNG3 semapv:UnspecifiedMatching -OMIM:608941 GNG3 skos:exactMatch ncbigene:2785 semapv:UnspecifiedMatching -OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:24596 semapv:UnspecifiedMatching -OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:DYNLL2 semapv:UnspecifiedMatching -OMIM:608942 DYNLL2 skos:exactMatch ncbigene:140735 semapv:UnspecifiedMatching -OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:28050 semapv:UnspecifiedMatching -OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:CIAPIN1 semapv:UnspecifiedMatching -OMIM:608943 CIAPIN1 skos:exactMatch ncbigene:57019 semapv:UnspecifiedMatching -OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:23399 semapv:UnspecifiedMatching -OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:FREM1 semapv:UnspecifiedMatching -OMIM:608944 FREM1 skos:exactMatch ncbigene:158326 semapv:UnspecifiedMatching -OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:25396 semapv:UnspecifiedMatching -OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:FREM2 semapv:UnspecifiedMatching -OMIM:608945 FREM2 skos:exactMatch ncbigene:341640 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:25172 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch ncbigene:166752 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch UMLS:C1427765 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:22234 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:KCTD13 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch ncbigene:253980 semapv:UnspecifiedMatching -OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:20393 semapv:UnspecifiedMatching -OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:ZIC4 semapv:UnspecifiedMatching -OMIM:608948 ZIC4 skos:exactMatch ncbigene:84107 semapv:UnspecifiedMatching -OMIM:608949 GLTP skos:exactMatch hgnc.symbol:24867 semapv:UnspecifiedMatching -OMIM:608949 GLTP skos:exactMatch hgnc.symbol:GLTP semapv:UnspecifiedMatching -OMIM:608949 GLTP skos:exactMatch ncbigene:51228 semapv:UnspecifiedMatching -OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:14099 semapv:UnspecifiedMatching -OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:CNOT6 semapv:UnspecifiedMatching -OMIM:608951 CNOT6 skos:exactMatch ncbigene:57472 semapv:UnspecifiedMatching -OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:23207 semapv:UnspecifiedMatching -OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:RIF1 semapv:UnspecifiedMatching -OMIM:608952 RIF1 skos:exactMatch ncbigene:55183 semapv:UnspecifiedMatching -OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:11725 semapv:UnspecifiedMatching -OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:TEKT2 semapv:UnspecifiedMatching -OMIM:608953 TEKT2 skos:exactMatch ncbigene:27285 semapv:UnspecifiedMatching -OMIM:608954 MON1B skos:exactMatch UMLS:C1537934 semapv:UnspecifiedMatching -OMIM:608954 MON1B skos:exactMatch hgnc.symbol:25020 semapv:UnspecifiedMatching -OMIM:608954 MON1B skos:exactMatch hgnc.symbol:MON1B semapv:UnspecifiedMatching -OMIM:608954 MON1B skos:exactMatch ncbigene:22879 semapv:UnspecifiedMatching -OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:1312 semapv:UnspecifiedMatching -OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:TTLL1 semapv:UnspecifiedMatching -OMIM:608955 TTLL1 skos:exactMatch ncbigene:25809 semapv:UnspecifiedMatching -OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:16055 semapv:UnspecifiedMatching -OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:SLC46A2 semapv:UnspecifiedMatching -OMIM:608956 SLC46A2 skos:exactMatch ncbigene:57864 semapv:UnspecifiedMatching -OMIM:608958 ADA skos:exactMatch hgnc.symbol:186 semapv:UnspecifiedMatching -OMIM:608958 ADA skos:exactMatch hgnc.symbol:ADA semapv:UnspecifiedMatching -OMIM:608958 ADA skos:exactMatch ncbigene:100 semapv:UnspecifiedMatching -OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:27717 semapv:UnspecifiedMatching -OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:DPH3 semapv:UnspecifiedMatching -OMIM:608959 DPH3 skos:exactMatch ncbigene:285381 semapv:UnspecifiedMatching -OMIM:608960 ARL5A skos:exactMatch UMLS:C1824205 semapv:UnspecifiedMatching -OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:696 semapv:UnspecifiedMatching -OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:ARL5A semapv:UnspecifiedMatching -OMIM:608960 ARL5A skos:exactMatch ncbigene:26225 semapv:UnspecifiedMatching -OMIM:608961 TRPM3 skos:exactMatch UMLS:C1425222 semapv:UnspecifiedMatching -OMIM:608961 TRPM3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608961 TRPM3 skos:exactMatch hgnc.symbol:17992 semapv:UnspecifiedMatching -OMIM:608961 TRPM3 skos:exactMatch hgnc.symbol:TRPM3 semapv:UnspecifiedMatching -OMIM:608961 TRPM3 skos:exactMatch ncbigene:80036 semapv:UnspecifiedMatching -OMIM:608962 RHBDL2 skos:exactMatch hgnc.symbol:16083 semapv:UnspecifiedMatching -OMIM:608962 RHBDL2 skos:exactMatch hgnc.symbol:RHBDL2 semapv:UnspecifiedMatching -OMIM:608962 RHBDL2 skos:exactMatch ncbigene:54933 semapv:UnspecifiedMatching -OMIM:608963 NUTM1 skos:exactMatch hgnc.symbol:29919 semapv:UnspecifiedMatching -OMIM:608963 NUTM1 skos:exactMatch hgnc.symbol:NUTM1 semapv:UnspecifiedMatching -OMIM:608963 NUTM1 skos:exactMatch ncbigene:256646 semapv:UnspecifiedMatching -OMIM:608964 TBPL2 skos:exactMatch hgnc.symbol:19841 semapv:UnspecifiedMatching -OMIM:608964 TBPL2 skos:exactMatch hgnc.symbol:TBPL2 semapv:UnspecifiedMatching -OMIM:608964 TBPL2 skos:exactMatch ncbigene:387332 semapv:UnspecifiedMatching -OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:1386 semapv:UnspecifiedMatching -OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:CABP4 semapv:UnspecifiedMatching -OMIM:608965 CABP4 skos:exactMatch ncbigene:57010 semapv:UnspecifiedMatching -OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:21231 semapv:UnspecifiedMatching -OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:DACT2 semapv:UnspecifiedMatching -OMIM:608966 DACT2 skos:exactMatch ncbigene:168002 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch UMLS:C1416710 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch UMLS:C4310873 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch UMLS:C4310874 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch hgnc.symbol:6408 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch hgnc.symbol:MAFB semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch ncbigene:9935 semapv:UnspecifiedMatching -OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:20321 semapv:UnspecifiedMatching -OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:UTP14C semapv:UnspecifiedMatching -OMIM:608969 UTP14C skos:exactMatch ncbigene:9724 semapv:UnspecifiedMatching -OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:27301 semapv:UnspecifiedMatching -OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:CRTC2 semapv:UnspecifiedMatching -OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching -OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:21680 semapv:UnspecifiedMatching -OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:SIK2 semapv:UnspecifiedMatching -OMIM:608973 SIK2 skos:exactMatch ncbigene:23235 semapv:UnspecifiedMatching -OMIM:608974 C1RL skos:exactMatch hgnc.symbol:21265 semapv:UnspecifiedMatching -OMIM:608974 C1RL skos:exactMatch hgnc.symbol:C1RL semapv:UnspecifiedMatching -OMIM:608974 C1RL skos:exactMatch ncbigene:51279 semapv:UnspecifiedMatching -OMIM:608975 PARD6B skos:exactMatch UMLS:C1424118 semapv:UnspecifiedMatching -OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:16245 semapv:UnspecifiedMatching -OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:PARD6B semapv:UnspecifiedMatching -OMIM:608975 PARD6B skos:exactMatch ncbigene:84612 semapv:UnspecifiedMatching -OMIM:608976 PARD6G skos:exactMatch UMLS:C1423959 semapv:UnspecifiedMatching -OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:16076 semapv:UnspecifiedMatching -OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:PARD6G semapv:UnspecifiedMatching -OMIM:608976 PARD6G skos:exactMatch ncbigene:84552 semapv:UnspecifiedMatching -OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:30528 semapv:UnspecifiedMatching -OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:DNAJC19 semapv:UnspecifiedMatching -OMIM:608977 DNAJC19 skos:exactMatch ncbigene:131118 semapv:UnspecifiedMatching -OMIM:608979 PPM1M skos:exactMatch hgnc.symbol:26506 semapv:UnspecifiedMatching -OMIM:608979 PPM1M skos:exactMatch hgnc.symbol:PPM1M semapv:UnspecifiedMatching -OMIM:608979 PPM1M skos:exactMatch ncbigene:132160 semapv:UnspecifiedMatching -OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:18123 semapv:UnspecifiedMatching -OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:ACVR1C semapv:UnspecifiedMatching -OMIM:608981 ACVR1C skos:exactMatch ncbigene:130399 semapv:UnspecifiedMatching -OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:10061 semapv:UnspecifiedMatching -OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:RNF2 semapv:UnspecifiedMatching -OMIM:608985 RNF2 skos:exactMatch ncbigene:6045 semapv:UnspecifiedMatching -OMIM:608986 CRTC3 skos:exactMatch hgnc.symbol:26148 semapv:UnspecifiedMatching -OMIM:608986 CRTC3 skos:exactMatch hgnc.symbol:CRTC3 semapv:UnspecifiedMatching -OMIM:608986 CRTC3 skos:exactMatch ncbigene:64784 semapv:UnspecifiedMatching -OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:30135 semapv:UnspecifiedMatching -OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:P4HA3 semapv:UnspecifiedMatching -OMIM:608987 P4HA3 skos:exactMatch ncbigene:283208 semapv:UnspecifiedMatching -OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:30311 semapv:UnspecifiedMatching -OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:SDR16C5 semapv:UnspecifiedMatching -OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch ncbigene:195814 semapv:UnspecifiedMatching -OMIM:608990 ADAMTS10 skos:exactMatch hgnc.symbol:13201 semapv:UnspecifiedMatching -OMIM:608990 ADAMTS10 skos:exactMatch hgnc.symbol:ADAMTS10 semapv:UnspecifiedMatching -OMIM:608990 ADAMTS10 skos:exactMatch ncbigene:81794 semapv:UnspecifiedMatching -OMIM:608991 MAML3 skos:exactMatch hgnc.symbol:16272 semapv:UnspecifiedMatching -OMIM:608991 MAML3 skos:exactMatch hgnc.symbol:MAML3 semapv:UnspecifiedMatching -OMIM:608991 MAML3 skos:exactMatch ncbigene:55534 semapv:UnspecifiedMatching -OMIM:608992 BCL6B skos:exactMatch hgnc.symbol:1002 semapv:UnspecifiedMatching -OMIM:608992 BCL6B skos:exactMatch hgnc.symbol:BCL6B semapv:UnspecifiedMatching -OMIM:608992 BCL6B skos:exactMatch ncbigene:255877 semapv:UnspecifiedMatching -OMIM:608993 APOBEC3F skos:exactMatch hgnc.symbol:17356 semapv:UnspecifiedMatching -OMIM:608993 APOBEC3F skos:exactMatch hgnc.symbol:APOBEC3F semapv:UnspecifiedMatching -OMIM:608993 APOBEC3F skos:exactMatch ncbigene:200316 semapv:UnspecifiedMatching -OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:20961 semapv:UnspecifiedMatching -OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:ANKS1A semapv:UnspecifiedMatching -OMIM:608994 ANKS1A skos:exactMatch ncbigene:23294 semapv:UnspecifiedMatching -OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:12383 semapv:UnspecifiedMatching -OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:EIPR1 semapv:UnspecifiedMatching -OMIM:608998 EIPR1 skos:exactMatch ncbigene:7260 semapv:UnspecifiedMatching -OMIM:608999 TSSC2 skos:exactMatch hgnc.symbol:12384 semapv:UnspecifiedMatching -OMIM:608999 TSSC2 skos:exactMatch hgnc.symbol:TSSC2 semapv:UnspecifiedMatching -OMIM:608999 TSSC2 skos:exactMatch ncbigene:650368 semapv:UnspecifiedMatching -OMIM:609000 MOXD1 skos:exactMatch hgnc.symbol:21063 semapv:UnspecifiedMatching -OMIM:609000 MOXD1 skos:exactMatch hgnc.symbol:MOXD1 semapv:UnspecifiedMatching -OMIM:609000 MOXD1 skos:exactMatch ncbigene:26002 semapv:UnspecifiedMatching -OMIM:609001 PIK3C2G skos:exactMatch hgnc.symbol:8973 semapv:UnspecifiedMatching -OMIM:609001 PIK3C2G skos:exactMatch hgnc.symbol:PIK3C2G semapv:UnspecifiedMatching -OMIM:609001 PIK3C2G skos:exactMatch ncbigene:5288 semapv:UnspecifiedMatching -OMIM:609002 TEKT1 skos:exactMatch hgnc.symbol:15534 semapv:UnspecifiedMatching -OMIM:609002 TEKT1 skos:exactMatch hgnc.symbol:TEKT1 semapv:UnspecifiedMatching -OMIM:609002 TEKT1 skos:exactMatch ncbigene:83659 semapv:UnspecifiedMatching -OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:21689 semapv:UnspecifiedMatching -OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:FIS1 semapv:UnspecifiedMatching -OMIM:609003 FIS1 skos:exactMatch ncbigene:51024 semapv:UnspecifiedMatching -OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:23688 semapv:UnspecifiedMatching -OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:BCL9L semapv:UnspecifiedMatching -OMIM:609004 BCL9L skos:exactMatch ncbigene:283149 semapv:UnspecifiedMatching -OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:16661 semapv:UnspecifiedMatching -OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:WDR17 semapv:UnspecifiedMatching -OMIM:609005 WDR17 skos:exactMatch ncbigene:116966 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch UMLS:C1425650 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch UMLS:C1846862 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch UMLS:C4017179 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:18618 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:LRRK2 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch ncbigene:120892 semapv:UnspecifiedMatching -OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:12854 semapv:UnspecifiedMatching -OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:YWHAQ semapv:UnspecifiedMatching -OMIM:609009 YWHAQ skos:exactMatch ncbigene:10971 semapv:UnspecifiedMatching -OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:6936 semapv:UnspecifiedMatching -OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:MCCC1 semapv:UnspecifiedMatching -OMIM:609010 MCCC1 skos:exactMatch ncbigene:56922 semapv:UnspecifiedMatching -OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:19964 semapv:UnspecifiedMatching -OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:VASH1 semapv:UnspecifiedMatching -OMIM:609011 VASH1 skos:exactMatch ncbigene:22846 semapv:UnspecifiedMatching -OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:12757 semapv:UnspecifiedMatching -OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:WDR5 semapv:UnspecifiedMatching -OMIM:609012 WDR5 skos:exactMatch ncbigene:11091 semapv:UnspecifiedMatching -OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:23612 semapv:UnspecifiedMatching -OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:SLCO4C1 semapv:UnspecifiedMatching -OMIM:609013 SLCO4C1 skos:exactMatch ncbigene:353189 semapv:UnspecifiedMatching -OMIM:609014 MCCC2 skos:exactMatch hgnc.symbol:6937 semapv:UnspecifiedMatching -OMIM:609014 MCCC2 skos:exactMatch hgnc.symbol:MCCC2 semapv:UnspecifiedMatching -OMIM:609014 MCCC2 skos:exactMatch ncbigene:64087 semapv:UnspecifiedMatching -OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch Orphanet:746 semapv:UnspecifiedMatching -OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch UMLS:C1969443 semapv:UnspecifiedMatching -OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:15743 semapv:UnspecifiedMatching -OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:ERMAP semapv:UnspecifiedMatching -OMIM:609017 ERMAP skos:exactMatch ncbigene:114625 semapv:UnspecifiedMatching -OMIM:609018 HLCS skos:exactMatch hgnc.symbol:4976 semapv:UnspecifiedMatching -OMIM:609018 HLCS skos:exactMatch hgnc.symbol:HLCS semapv:UnspecifiedMatching -OMIM:609018 HLCS skos:exactMatch ncbigene:3141 semapv:UnspecifiedMatching -OMIM:609019 BTD skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching -OMIM:609019 BTD skos:exactMatch UMLS:C1412833 semapv:UnspecifiedMatching -OMIM:609019 BTD skos:exactMatch hgnc.symbol:1122 semapv:UnspecifiedMatching -OMIM:609019 BTD skos:exactMatch hgnc.symbol:BTD semapv:UnspecifiedMatching -OMIM:609019 BTD skos:exactMatch ncbigene:686 semapv:UnspecifiedMatching -OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:13636 semapv:UnspecifiedMatching -OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:FOLH1B semapv:UnspecifiedMatching -OMIM:609020 FOLH1B skos:exactMatch ncbigene:219595 semapv:UnspecifiedMatching -OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:28611 semapv:UnspecifiedMatching -OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:RICTOR semapv:UnspecifiedMatching -OMIM:609022 RICTOR skos:exactMatch ncbigene:253260 semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch UMLS:C1418706 semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch hgnc.symbol:9153 semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch hgnc.symbol:PNKD semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch ncbigene:25953 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch UMLS:C1416623 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:6305 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:KDELR2 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch ncbigene:11014 semapv:UnspecifiedMatching -OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:24431 semapv:UnspecifiedMatching -OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:KRT75 semapv:UnspecifiedMatching -OMIM:609025 KRT75 skos:exactMatch ncbigene:9119 semapv:UnspecifiedMatching -OMIM:609028 TIFA skos:exactMatch hgnc.symbol:19075 semapv:UnspecifiedMatching -OMIM:609028 TIFA skos:exactMatch hgnc.symbol:TIFA semapv:UnspecifiedMatching -OMIM:609028 TIFA skos:exactMatch ncbigene:92610 semapv:UnspecifiedMatching -OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:2847 semapv:UnspecifiedMatching -OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:DGCR8 semapv:UnspecifiedMatching -OMIM:609030 DGCR8 skos:exactMatch ncbigene:54487 semapv:UnspecifiedMatching -OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:15932 semapv:UnspecifiedMatching -OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:EPPIN semapv:UnspecifiedMatching -OMIM:609031 EPPIN skos:exactMatch ncbigene:57119 semapv:UnspecifiedMatching -OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:19136 semapv:UnspecifiedMatching -OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:FRG2 semapv:UnspecifiedMatching -OMIM:609032 FRG2 skos:exactMatch ncbigene:448831 semapv:UnspecifiedMatching -OMIM:609034 HEYL skos:exactMatch UMLS:C1415526 semapv:UnspecifiedMatching -OMIM:609034 HEYL skos:exactMatch hgnc.symbol:4882 semapv:UnspecifiedMatching -OMIM:609034 HEYL skos:exactMatch hgnc.symbol:HEYL semapv:UnspecifiedMatching -OMIM:609034 HEYL skos:exactMatch ncbigene:26508 semapv:UnspecifiedMatching -OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:14436 semapv:UnspecifiedMatching -OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:RAPH1 semapv:UnspecifiedMatching -OMIM:609035 RAPH1 skos:exactMatch ncbigene:65059 semapv:UnspecifiedMatching -OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:17379 semapv:UnspecifiedMatching -OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:APBB1IP semapv:UnspecifiedMatching -OMIM:609036 APBB1IP skos:exactMatch ncbigene:54518 semapv:UnspecifiedMatching -OMIM:609038 RND1 skos:exactMatch hgnc.symbol:18314 semapv:UnspecifiedMatching -OMIM:609038 RND1 skos:exactMatch hgnc.symbol:RND1 semapv:UnspecifiedMatching -OMIM:609038 RND1 skos:exactMatch ncbigene:27289 semapv:UnspecifiedMatching -OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching -OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching -OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:19992 semapv:UnspecifiedMatching -OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:OPN5 semapv:UnspecifiedMatching -OMIM:609042 OPN5 skos:exactMatch ncbigene:221391 semapv:UnspecifiedMatching -OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:14666 semapv:UnspecifiedMatching -OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:RXFP4 semapv:UnspecifiedMatching -OMIM:609043 RXFP4 skos:exactMatch ncbigene:339403 semapv:UnspecifiedMatching -OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:19061 semapv:UnspecifiedMatching -OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:FFAR4 semapv:UnspecifiedMatching -OMIM:609044 FFAR4 skos:exactMatch ncbigene:338557 semapv:UnspecifiedMatching -OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:19997 semapv:UnspecifiedMatching -OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:GPR141 semapv:UnspecifiedMatching -OMIM:609045 GPR141 skos:exactMatch ncbigene:353345 semapv:UnspecifiedMatching -OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:20088 semapv:UnspecifiedMatching -OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:GPR142 semapv:UnspecifiedMatching -OMIM:609046 GPR142 skos:exactMatch ncbigene:350383 semapv:UnspecifiedMatching -OMIM:609049 pierson syndrome skos:exactMatch Orphanet:2670 semapv:UnspecifiedMatching -OMIM:609049 pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching -OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:23784 semapv:UnspecifiedMatching -OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:MTA3 semapv:UnspecifiedMatching -OMIM:609050 MTA3 skos:exactMatch ncbigene:57504 semapv:UnspecifiedMatching -OMIM:609051 CARD8 skos:exactMatch UMLS:C1424714 semapv:UnspecifiedMatching -OMIM:609051 CARD8 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching -OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:17057 semapv:UnspecifiedMatching -OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:CARD8 semapv:UnspecifiedMatching -OMIM:609051 CARD8 skos:exactMatch ncbigene:22900 semapv:UnspecifiedMatching -OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching -OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch UMLS:C1417504 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch UMLS:C1855115 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch UMLS:C1855116 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch hgnc.symbol:7526 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch hgnc.symbol:MMUT semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch ncbigene:4594 semapv:UnspecifiedMatching -OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:30802 semapv:UnspecifiedMatching -OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:PNPLA2 semapv:UnspecifiedMatching -OMIM:609059 PNPLA2 skos:exactMatch ncbigene:57104 semapv:UnspecifiedMatching -OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch Orphanet:137681 semapv:UnspecifiedMatching -OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch UMLS:C1836797 semapv:UnspecifiedMatching -OMIM:609061 ENAH skos:exactMatch UMLS:C1425409 semapv:UnspecifiedMatching -OMIM:609061 ENAH skos:exactMatch hgnc.symbol:18271 semapv:UnspecifiedMatching -OMIM:609061 ENAH skos:exactMatch hgnc.symbol:ENAH semapv:UnspecifiedMatching -OMIM:609061 ENAH skos:exactMatch ncbigene:55740 semapv:UnspecifiedMatching -OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:21694 semapv:UnspecifiedMatching -OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:POU6F2 semapv:UnspecifiedMatching -OMIM:609062 POU6F2 skos:exactMatch ncbigene:11281 semapv:UnspecifiedMatching -OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:17772 semapv:UnspecifiedMatching -OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:TXN2 semapv:UnspecifiedMatching -OMIM:609063 TXN2 skos:exactMatch ncbigene:25828 semapv:UnspecifiedMatching -OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:20675 semapv:UnspecifiedMatching -OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:CNDP1 semapv:UnspecifiedMatching -OMIM:609064 CNDP1 skos:exactMatch ncbigene:84735 semapv:UnspecifiedMatching -OMIM:609066 AJUBA skos:exactMatch UMLS:C1426808 semapv:UnspecifiedMatching -OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:20250 semapv:UnspecifiedMatching -OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:AJUBA semapv:UnspecifiedMatching -OMIM:609066 AJUBA skos:exactMatch ncbigene:84962 semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch UMLS:C1822656 semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch hgnc.symbol:32322 semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch hgnc.symbol:SCX semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch ncbigene:642658 semapv:UnspecifiedMatching -OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:26780 semapv:UnspecifiedMatching -OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:DAND5 semapv:UnspecifiedMatching -OMIM:609068 DAND5 skos:exactMatch ncbigene:199699 semapv:UnspecifiedMatching -OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch Orphanet:65288 semapv:UnspecifiedMatching -OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching -OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:13608 semapv:UnspecifiedMatching -OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:FBXW2 semapv:UnspecifiedMatching -OMIM:609071 FBXW2 skos:exactMatch ncbigene:26190 semapv:UnspecifiedMatching -OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:13613 semapv:UnspecifiedMatching -OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:FBXW5 semapv:UnspecifiedMatching -OMIM:609072 FBXW5 skos:exactMatch ncbigene:54461 semapv:UnspecifiedMatching -OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:13597 semapv:UnspecifiedMatching -OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:FBXW8 semapv:UnspecifiedMatching -OMIM:609073 FBXW8 skos:exactMatch ncbigene:26259 semapv:UnspecifiedMatching -OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:28136 semapv:UnspecifiedMatching -OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:FBXW9 semapv:UnspecifiedMatching -OMIM:609074 FBXW9 skos:exactMatch ncbigene:84261 semapv:UnspecifiedMatching -OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:20729 semapv:UnspecifiedMatching -OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:FBXW12 semapv:UnspecifiedMatching -OMIM:609075 FBXW12 skos:exactMatch ncbigene:285231 semapv:UnspecifiedMatching -OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:13603 semapv:UnspecifiedMatching -OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:FBXL6 semapv:UnspecifiedMatching -OMIM:609076 FBXL6 skos:exactMatch ncbigene:26233 semapv:UnspecifiedMatching -OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:17875 semapv:UnspecifiedMatching -OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:FBXL8 semapv:UnspecifiedMatching -OMIM:609077 FBXL8 skos:exactMatch ncbigene:55336 semapv:UnspecifiedMatching -OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:13610 semapv:UnspecifiedMatching -OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:KDM2B semapv:UnspecifiedMatching -OMIM:609078 KDM2B skos:exactMatch ncbigene:84678 semapv:UnspecifiedMatching -OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:13611 semapv:UnspecifiedMatching -OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:FBXL12 semapv:UnspecifiedMatching -OMIM:609079 FBXL12 skos:exactMatch ncbigene:54850 semapv:UnspecifiedMatching -OMIM:609080 FBXL13 skos:exactMatch UMLS:C1539481 semapv:UnspecifiedMatching -OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:21658 semapv:UnspecifiedMatching -OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:FBXL13 semapv:UnspecifiedMatching -OMIM:609080 FBXL13 skos:exactMatch ncbigene:222235 semapv:UnspecifiedMatching -OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:28624 semapv:UnspecifiedMatching -OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:FBXL14 semapv:UnspecifiedMatching -OMIM:609081 FBXL14 skos:exactMatch ncbigene:144699 semapv:UnspecifiedMatching -OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:14150 semapv:UnspecifiedMatching -OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:FBXL16 semapv:UnspecifiedMatching -OMIM:609082 FBXL16 skos:exactMatch ncbigene:146330 semapv:UnspecifiedMatching -OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:13615 semapv:UnspecifiedMatching -OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:FBXL17 semapv:UnspecifiedMatching -OMIM:609083 FBXL17 skos:exactMatch ncbigene:64839 semapv:UnspecifiedMatching -OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:21874 semapv:UnspecifiedMatching -OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:FBXL18 semapv:UnspecifiedMatching -OMIM:609084 FBXL18 skos:exactMatch ncbigene:80028 semapv:UnspecifiedMatching -OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:25300 semapv:UnspecifiedMatching -OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:FBXL19 semapv:UnspecifiedMatching -OMIM:609085 FBXL19 skos:exactMatch ncbigene:54620 semapv:UnspecifiedMatching -OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:24679 semapv:UnspecifiedMatching -OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:FBXL20 semapv:UnspecifiedMatching -OMIM:609086 FBXL20 skos:exactMatch ncbigene:84961 semapv:UnspecifiedMatching -OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:13600 semapv:UnspecifiedMatching -OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:FBXL21P semapv:UnspecifiedMatching -OMIM:609087 FBXL21 skos:exactMatch ncbigene:26223 semapv:UnspecifiedMatching -OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:27537 semapv:UnspecifiedMatching -OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:FBXL22 semapv:UnspecifiedMatching -OMIM:609088 FBXL22 skos:exactMatch ncbigene:283807 semapv:UnspecifiedMatching -OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:13582 semapv:UnspecifiedMatching -OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:FBXO3 semapv:UnspecifiedMatching -OMIM:609089 FBXO3 skos:exactMatch ncbigene:26273 semapv:UnspecifiedMatching -OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:13583 semapv:UnspecifiedMatching -OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:FBXO4 semapv:UnspecifiedMatching -OMIM:609090 FBXO4 skos:exactMatch ncbigene:26272 semapv:UnspecifiedMatching -OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:13588 semapv:UnspecifiedMatching -OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:FBXO9 semapv:UnspecifiedMatching -OMIM:609091 FBXO9 skos:exactMatch ncbigene:26268 semapv:UnspecifiedMatching -OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:13589 semapv:UnspecifiedMatching -OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:FBXO10 semapv:UnspecifiedMatching -OMIM:609092 FBXO10 skos:exactMatch ncbigene:26267 semapv:UnspecifiedMatching -OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:13617 semapv:UnspecifiedMatching -OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:FBXO15 semapv:UnspecifiedMatching -OMIM:609093 FBXO15 skos:exactMatch ncbigene:201456 semapv:UnspecifiedMatching -OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:18754 semapv:UnspecifiedMatching -OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:FBXO17 semapv:UnspecifiedMatching -OMIM:609094 FBXO17 skos:exactMatch ncbigene:115290 semapv:UnspecifiedMatching -OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:13592 semapv:UnspecifiedMatching -OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:FBXO21 semapv:UnspecifiedMatching -OMIM:609095 FBXO21 skos:exactMatch ncbigene:23014 semapv:UnspecifiedMatching -OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:13593 semapv:UnspecifiedMatching -OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:FBXO22 semapv:UnspecifiedMatching -OMIM:609096 FBXO22 skos:exactMatch ncbigene:26263 semapv:UnspecifiedMatching -OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:13595 semapv:UnspecifiedMatching -OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:FBXO24 semapv:UnspecifiedMatching -OMIM:609097 FBXO24 skos:exactMatch ncbigene:26261 semapv:UnspecifiedMatching -OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:13596 semapv:UnspecifiedMatching -OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:FBXO25 semapv:UnspecifiedMatching -OMIM:609098 FBXO25 skos:exactMatch ncbigene:26260 semapv:UnspecifiedMatching -OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:18753 semapv:UnspecifiedMatching -OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:FBXO27 semapv:UnspecifiedMatching -OMIM:609099 FBXO27 skos:exactMatch ncbigene:126433 semapv:UnspecifiedMatching -OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:29046 semapv:UnspecifiedMatching -OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:FBXO28 semapv:UnspecifiedMatching -OMIM:609100 FBXO28 skos:exactMatch ncbigene:23219 semapv:UnspecifiedMatching -OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:15600 semapv:UnspecifiedMatching -OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:FBXO30 semapv:UnspecifiedMatching -OMIM:609101 FBXO30 skos:exactMatch ncbigene:84085 semapv:UnspecifiedMatching -OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:16510 semapv:UnspecifiedMatching -OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:FBXO31 semapv:UnspecifiedMatching -OMIM:609102 FBXO31 skos:exactMatch ncbigene:79791 semapv:UnspecifiedMatching -OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:19833 semapv:UnspecifiedMatching -OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:FBXO33 semapv:UnspecifiedMatching -OMIM:609103 FBXO33 skos:exactMatch ncbigene:254170 semapv:UnspecifiedMatching -OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:20201 semapv:UnspecifiedMatching -OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:FBXO34 semapv:UnspecifiedMatching -OMIM:609104 FBXO34 skos:exactMatch ncbigene:55030 semapv:UnspecifiedMatching -OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:27020 semapv:UnspecifiedMatching -OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:FBXO36 semapv:UnspecifiedMatching -OMIM:609105 FBXO36 skos:exactMatch ncbigene:130888 semapv:UnspecifiedMatching -OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:28565 semapv:UnspecifiedMatching -OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:FBXO39 semapv:UnspecifiedMatching -OMIM:609106 FBXO39 skos:exactMatch ncbigene:162517 semapv:UnspecifiedMatching -OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:29816 semapv:UnspecifiedMatching -OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:FBXO40 semapv:UnspecifiedMatching -OMIM:609107 FBXO40 skos:exactMatch ncbigene:51725 semapv:UnspecifiedMatching -OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:29409 semapv:UnspecifiedMatching -OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:FBXO41 semapv:UnspecifiedMatching -OMIM:609108 FBXO41 skos:exactMatch ncbigene:150726 semapv:UnspecifiedMatching -OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:29249 semapv:UnspecifiedMatching -OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:FBXO42 semapv:UnspecifiedMatching -OMIM:609109 FBXO42 skos:exactMatch ncbigene:54455 semapv:UnspecifiedMatching -OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:28521 semapv:UnspecifiedMatching -OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:FBXO43 semapv:UnspecifiedMatching -OMIM:609110 FBXO43 skos:exactMatch ncbigene:286151 semapv:UnspecifiedMatching -OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:24847 semapv:UnspecifiedMatching -OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:FBXO44 semapv:UnspecifiedMatching -OMIM:609111 FBXO44 skos:exactMatch ncbigene:93611 semapv:UnspecifiedMatching -OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:29148 semapv:UnspecifiedMatching -OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:FBXO45 semapv:UnspecifiedMatching -OMIM:609112 FBXO45 skos:exactMatch ncbigene:200933 semapv:UnspecifiedMatching -OMIM:609114 DSTN skos:exactMatch hgnc.symbol:15750 semapv:UnspecifiedMatching -OMIM:609114 DSTN skos:exactMatch hgnc.symbol:DSTN semapv:UnspecifiedMatching -OMIM:609114 DSTN skos:exactMatch ncbigene:11034 semapv:UnspecifiedMatching -OMIM:609116 respiratory rhythmicity 1n sleep skos:exactMatch UMLS:C1836764 semapv:UnspecifiedMatching -OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:25069 semapv:UnspecifiedMatching -OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:FBXO46 semapv:UnspecifiedMatching -OMIM:609117 FBXO46 skos:exactMatch ncbigene:23403 semapv:UnspecifiedMatching -OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:8761 semapv:UnspecifiedMatching -OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:PDCD10 semapv:UnspecifiedMatching -OMIM:609118 PDCD10 skos:exactMatch ncbigene:11235 semapv:UnspecifiedMatching -OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:23194 semapv:UnspecifiedMatching -OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:THAP11 semapv:UnspecifiedMatching -OMIM:609119 THAP11 skos:exactMatch ncbigene:57215 semapv:UnspecifiedMatching -OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:20819 semapv:UnspecifiedMatching -OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:CATSPER3 semapv:UnspecifiedMatching -OMIM:609120 CATSPER3 skos:exactMatch ncbigene:347732 semapv:UnspecifiedMatching -OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:23220 semapv:UnspecifiedMatching -OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:CATSPER4 semapv:UnspecifiedMatching -OMIM:609121 CATSPER4 skos:exactMatch ncbigene:378807 semapv:UnspecifiedMatching -OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:13536 semapv:UnspecifiedMatching -OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:ATP8B4 semapv:UnspecifiedMatching -OMIM:609123 ATP8B4 skos:exactMatch ncbigene:79895 semapv:UnspecifiedMatching -OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:17521 semapv:UnspecifiedMatching -OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:ZNF385A semapv:UnspecifiedMatching -OMIM:609124 ZNF385A skos:exactMatch ncbigene:25946 semapv:UnspecifiedMatching -OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:25078 semapv:UnspecifiedMatching -OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:MOSPD3 semapv:UnspecifiedMatching -OMIM:609125 MOSPD3 skos:exactMatch ncbigene:64598 semapv:UnspecifiedMatching -OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:13540 semapv:UnspecifiedMatching -OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:ATP9A semapv:UnspecifiedMatching -OMIM:609126 ATP9A skos:exactMatch ncbigene:10079 semapv:UnspecifiedMatching -OMIM:609130 CENPS skos:exactMatch hgnc.symbol:23163 semapv:UnspecifiedMatching -OMIM:609130 CENPS skos:exactMatch hgnc.symbol:CENPS semapv:UnspecifiedMatching -OMIM:609130 CENPS skos:exactMatch ncbigene:378708 semapv:UnspecifiedMatching -OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:2049 semapv:UnspecifiedMatching -OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:CLDN7 semapv:UnspecifiedMatching -OMIM:609131 CLDN7 skos:exactMatch ncbigene:1366 semapv:UnspecifiedMatching -OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:29079 semapv:UnspecifiedMatching -OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:KDM1A semapv:UnspecifiedMatching -OMIM:609132 KDM1A skos:exactMatch ncbigene:23028 semapv:UnspecifiedMatching -OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:25917 semapv:UnspecifiedMatching -OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:FIZ1 semapv:UnspecifiedMatching -OMIM:609133 FIZ1 skos:exactMatch ncbigene:84922 semapv:UnspecifiedMatching -OMIM:609134 UBR2 skos:exactMatch UMLS:C1540154 semapv:UnspecifiedMatching -OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:21289 semapv:UnspecifiedMatching -OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:UBR2 semapv:UnspecifiedMatching -OMIM:609134 UBR2 skos:exactMatch ncbigene:23304 semapv:UnspecifiedMatching -OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:28580 semapv:UnspecifiedMatching -OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:RTP1 semapv:UnspecifiedMatching -OMIM:609137 RTP1 skos:exactMatch ncbigene:132112 semapv:UnspecifiedMatching -OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:32486 semapv:UnspecifiedMatching -OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:RTP2 semapv:UnspecifiedMatching -OMIM:609138 RTP2 skos:exactMatch ncbigene:344892 semapv:UnspecifiedMatching -OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:25786 semapv:UnspecifiedMatching -OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:REEP1 semapv:UnspecifiedMatching -OMIM:609139 REEP1 skos:exactMatch ncbigene:65055 semapv:UnspecifiedMatching -OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:1815 semapv:UnspecifiedMatching -OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:CEACAM3 semapv:UnspecifiedMatching -OMIM:609142 CEACAM3 skos:exactMatch ncbigene:1084 semapv:UnspecifiedMatching -OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:24682 semapv:UnspecifiedMatching -OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:FLVCR1 semapv:UnspecifiedMatching -OMIM:609144 FLVCR1 skos:exactMatch ncbigene:28982 semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch UMLS:C1826398 semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch hgnc.symbol:29866 semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch hgnc.symbol:NFASC semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch ncbigene:23114 semapv:UnspecifiedMatching -OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:29550 semapv:UnspecifiedMatching -OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:RIC8A semapv:UnspecifiedMatching -OMIM:609146 RIC8A skos:exactMatch ncbigene:60626 semapv:UnspecifiedMatching -OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:25555 semapv:UnspecifiedMatching -OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:RIC8B semapv:UnspecifiedMatching -OMIM:609147 RIC8B skos:exactMatch ncbigene:55188 semapv:UnspecifiedMatching -OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:23097 semapv:UnspecifiedMatching -OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:SLC29A4 semapv:UnspecifiedMatching -OMIM:609149 SLC29A4 skos:exactMatch ncbigene:222962 semapv:UnspecifiedMatching -OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:24343 semapv:UnspecifiedMatching -OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:CXXC1 semapv:UnspecifiedMatching -OMIM:609150 CXXC1 skos:exactMatch ncbigene:30827 semapv:UnspecifiedMatching -OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:30600 semapv:UnspecifiedMatching -OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:UBXN11 semapv:UnspecifiedMatching -OMIM:609151 UBXN11 skos:exactMatch ncbigene:91544 semapv:UnspecifiedMatching -OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:740 semapv:UnspecifiedMatching -OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:ASCL3 semapv:UnspecifiedMatching -OMIM:609154 ASCL3 skos:exactMatch ncbigene:56676 semapv:UnspecifiedMatching -OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:24311 semapv:UnspecifiedMatching -OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:ASCL4 semapv:UnspecifiedMatching -OMIM:609155 ASCL4 skos:exactMatch ncbigene:121549 semapv:UnspecifiedMatching -OMIM:609156 NCLN skos:exactMatch hgnc.symbol:26923 semapv:UnspecifiedMatching -OMIM:609156 NCLN skos:exactMatch hgnc.symbol:NCLN semapv:UnspecifiedMatching -OMIM:609156 NCLN skos:exactMatch ncbigene:56926 semapv:UnspecifiedMatching -OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:30060 semapv:UnspecifiedMatching -OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:NOMO1 semapv:UnspecifiedMatching -OMIM:609157 NOMO1 skos:exactMatch ncbigene:23420 semapv:UnspecifiedMatching -OMIM:609158 NOMO2 skos:exactMatch hgnc.symbol:22652 semapv:UnspecifiedMatching -OMIM:609158 NOMO2 skos:exactMatch hgnc.symbol:NOMO2 semapv:UnspecifiedMatching -OMIM:609158 NOMO2 skos:exactMatch ncbigene:283820 semapv:UnspecifiedMatching -OMIM:609159 NOMO3 skos:exactMatch hgnc.symbol:25242 semapv:UnspecifiedMatching -OMIM:609159 NOMO3 skos:exactMatch hgnc.symbol:NOMO3 semapv:UnspecifiedMatching -OMIM:609159 NOMO3 skos:exactMatch ncbigene:408050 semapv:UnspecifiedMatching -OMIM:609163 HCAR2 skos:exactMatch hgnc.symbol:24827 semapv:UnspecifiedMatching -OMIM:609163 HCAR2 skos:exactMatch hgnc.symbol:HCAR2 semapv:UnspecifiedMatching -OMIM:609163 HCAR2 skos:exactMatch ncbigene:338442 semapv:UnspecifiedMatching -OMIM:609168 SGOL1 skos:exactMatch hgnc.symbol:25088 semapv:UnspecifiedMatching -OMIM:609168 SGOL1 skos:exactMatch hgnc.symbol:SGO1 semapv:UnspecifiedMatching -OMIM:609168 SGOL1 skos:exactMatch ncbigene:151648 semapv:UnspecifiedMatching -OMIM:609169 GAPDHS skos:exactMatch hgnc.symbol:24864 semapv:UnspecifiedMatching -OMIM:609169 GAPDHS skos:exactMatch hgnc.symbol:GAPDHS semapv:UnspecifiedMatching -OMIM:609169 GAPDHS skos:exactMatch ncbigene:26330 semapv:UnspecifiedMatching -OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:18311 semapv:UnspecifiedMatching -OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:ERP44 semapv:UnspecifiedMatching -OMIM:609170 TXNDC4 skos:exactMatch ncbigene:23071 semapv:UnspecifiedMatching -OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:17408 semapv:UnspecifiedMatching -OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:CDC42EP5 semapv:UnspecifiedMatching -OMIM:609171 CDC42EP5 skos:exactMatch ncbigene:148170 semapv:UnspecifiedMatching -OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:14941 semapv:UnspecifiedMatching -OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:PPP1R16A semapv:UnspecifiedMatching -OMIM:609172 PPP1R16A skos:exactMatch ncbigene:84988 semapv:UnspecifiedMatching -OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:24054 semapv:UnspecifiedMatching -OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:KNL1 semapv:UnspecifiedMatching -OMIM:609173 KNL1 skos:exactMatch ncbigene:57082 semapv:UnspecifiedMatching -OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:24548 semapv:UnspecifiedMatching -OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:NSL1 semapv:UnspecifiedMatching -OMIM:609174 NSL1 skos:exactMatch ncbigene:25936 semapv:UnspecifiedMatching -OMIM:609175 DSN1 skos:exactMatch hgnc.symbol:16165 semapv:UnspecifiedMatching -OMIM:609175 DSN1 skos:exactMatch hgnc.symbol:DSN1 semapv:UnspecifiedMatching -OMIM:609175 DSN1 skos:exactMatch ncbigene:79980 semapv:UnspecifiedMatching -OMIM:609176 PMF1 skos:exactMatch hgnc.symbol:9112 semapv:UnspecifiedMatching -OMIM:609176 PMF1 skos:exactMatch hgnc.symbol:PMF1 semapv:UnspecifiedMatching -OMIM:609176 PMF1 skos:exactMatch ncbigene:11243 semapv:UnspecifiedMatching -OMIM:609177 ZWINT skos:exactMatch hgnc.symbol:13195 semapv:UnspecifiedMatching -OMIM:609177 ZWINT skos:exactMatch hgnc.symbol:ZWINT semapv:UnspecifiedMatching -OMIM:609177 ZWINT skos:exactMatch ncbigene:11130 semapv:UnspecifiedMatching -OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:24967 semapv:UnspecifiedMatching -OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:MIS12 semapv:UnspecifiedMatching -OMIM:609178 MIS12 skos:exactMatch ncbigene:79003 semapv:UnspecifiedMatching -OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:3095 semapv:UnspecifiedMatching -OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:DYRK4 semapv:UnspecifiedMatching -OMIM:609181 DYRK4 skos:exactMatch ncbigene:8798 semapv:UnspecifiedMatching -OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:20799 semapv:UnspecifiedMatching -OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:SLC35D2 semapv:UnspecifiedMatching -OMIM:609182 SLC35D2 skos:exactMatch ncbigene:11046 semapv:UnspecifiedMatching -OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:24114 semapv:UnspecifiedMatching -OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:AURKAIP1 semapv:UnspecifiedMatching -OMIM:609183 AURKAIP1 skos:exactMatch ncbigene:54998 semapv:UnspecifiedMatching -OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:6322 semapv:UnspecifiedMatching -OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:KIF4B semapv:UnspecifiedMatching -OMIM:609184 KIF4B skos:exactMatch ncbigene:285643 semapv:UnspecifiedMatching -OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:18513 semapv:UnspecifiedMatching -OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:ZHX2 semapv:UnspecifiedMatching -OMIM:609185 ZHX2 skos:exactMatch ncbigene:22882 semapv:UnspecifiedMatching -OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:28358 semapv:UnspecifiedMatching -OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:D2HGDH semapv:UnspecifiedMatching -OMIM:609186 D2HGDH skos:exactMatch ncbigene:728294 semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch UMLS:C0342873 semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch UMLS:C1423901 semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:16001 semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:SUGCT semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch ncbigene:79783 semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch UMLS:C1313961 semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch UMLS:C1423902 semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:16002 semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:MPLKIP semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch ncbigene:136647 semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch UMLS:C1427233 semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:20995 semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:ASF1A semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch ncbigene:25842 semapv:UnspecifiedMatching -OMIM:609190 ASF1B skos:exactMatch UMLS:C1427234 semapv:UnspecifiedMatching -OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:20996 semapv:UnspecifiedMatching -OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:ASF1B semapv:UnspecifiedMatching -OMIM:609190 ASF1B skos:exactMatch ncbigene:55723 semapv:UnspecifiedMatching -OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:1170 semapv:UnspecifiedMatching -OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:AKIP1 semapv:UnspecifiedMatching -OMIM:609191 AKIP1 skos:exactMatch ncbigene:56672 semapv:UnspecifiedMatching -OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:19742 semapv:UnspecifiedMatching -OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:LRR1 semapv:UnspecifiedMatching -OMIM:609193 LRR1 skos:exactMatch ncbigene:122769 semapv:UnspecifiedMatching -OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:25097 semapv:UnspecifiedMatching -OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:CABLES1 semapv:UnspecifiedMatching -OMIM:609194 CABLES1 skos:exactMatch ncbigene:91768 semapv:UnspecifiedMatching -OMIM:609196 MRAP skos:exactMatch hgnc.symbol:1304 semapv:UnspecifiedMatching -OMIM:609196 MRAP skos:exactMatch hgnc.symbol:MRAP semapv:UnspecifiedMatching -OMIM:609196 MRAP skos:exactMatch ncbigene:56246 semapv:UnspecifiedMatching -OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:14632 semapv:UnspecifiedMatching -OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:ADAMTSL1 semapv:UnspecifiedMatching -OMIM:609198 ADAMTSL1 skos:exactMatch ncbigene:92949 semapv:UnspecifiedMatching -OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:14633 semapv:UnspecifiedMatching -OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:ADAMTSL3 semapv:UnspecifiedMatching -OMIM:609199 ADAMTSL3 skos:exactMatch ncbigene:57188 semapv:UnspecifiedMatching -OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:29884 semapv:UnspecifiedMatching -OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:UBASH3B semapv:UnspecifiedMatching -OMIM:609201 UBASH3B skos:exactMatch ncbigene:84959 semapv:UnspecifiedMatching -OMIM:609202 SCGN skos:exactMatch hgnc.symbol:16941 semapv:UnspecifiedMatching -OMIM:609202 SCGN skos:exactMatch hgnc.symbol:SCGN semapv:UnspecifiedMatching -OMIM:609202 SCGN skos:exactMatch ncbigene:10590 semapv:UnspecifiedMatching -OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:17591 semapv:UnspecifiedMatching -OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:CLDN23 semapv:UnspecifiedMatching -OMIM:609203 CLDN23 skos:exactMatch ncbigene:137075 semapv:UnspecifiedMatching -OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:14048 semapv:UnspecifiedMatching -OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:MRPS16 semapv:UnspecifiedMatching -OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch ncbigene:51021 semapv:UnspecifiedMatching -OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:17294 semapv:UnspecifiedMatching -OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:DAB2IP semapv:UnspecifiedMatching -OMIM:609205 DAB2IP skos:exactMatch ncbigene:153090 semapv:UnspecifiedMatching -OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:3212 semapv:UnspecifiedMatching -OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:EEF1E1 semapv:UnspecifiedMatching -OMIM:609206 EEF1E1 skos:exactMatch ncbigene:9521 semapv:UnspecifiedMatching -OMIM:609207 MREG skos:exactMatch hgnc.symbol:25478 semapv:UnspecifiedMatching -OMIM:609207 MREG skos:exactMatch hgnc.symbol:MREG semapv:UnspecifiedMatching -OMIM:609207 MREG skos:exactMatch ncbigene:55686 semapv:UnspecifiedMatching -OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:25460 semapv:UnspecifiedMatching -OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:KAZALD1 semapv:UnspecifiedMatching -OMIM:609208 KAZALD1 skos:exactMatch ncbigene:81621 semapv:UnspecifiedMatching -OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C1424660 semapv:UnspecifiedMatching -OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching -OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:16951 semapv:UnspecifiedMatching -OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:IVNS1ABP semapv:UnspecifiedMatching -OMIM:609209 IVNS1ABP skos:exactMatch ncbigene:10625 semapv:UnspecifiedMatching -OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:2039 semapv:UnspecifiedMatching -OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:CLDN18 semapv:UnspecifiedMatching -OMIM:609210 CLDN18 skos:exactMatch ncbigene:51208 semapv:UnspecifiedMatching -OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:29827 semapv:UnspecifiedMatching -OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:MYL12B semapv:UnspecifiedMatching -OMIM:609211 MYL12B skos:exactMatch ncbigene:103910 semapv:UnspecifiedMatching -OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:16448 semapv:UnspecifiedMatching -OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:ASRGL1 semapv:UnspecifiedMatching -OMIM:609212 ASRGL1 skos:exactMatch ncbigene:80150 semapv:UnspecifiedMatching -OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:18276 semapv:UnspecifiedMatching -OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:SEC61A1 semapv:UnspecifiedMatching -OMIM:609213 SEC61A1 skos:exactMatch ncbigene:29927 semapv:UnspecifiedMatching -OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:16993 semapv:UnspecifiedMatching -OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:SEC61B semapv:UnspecifiedMatching -OMIM:609214 SEC61B skos:exactMatch ncbigene:10952 semapv:UnspecifiedMatching -OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:18277 semapv:UnspecifiedMatching -OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:SEC61G semapv:UnspecifiedMatching -OMIM:609215 SEC61G skos:exactMatch ncbigene:23480 semapv:UnspecifiedMatching -OMIM:609216 SPIRE1 skos:exactMatch UMLS:C1539844 semapv:UnspecifiedMatching -OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:30622 semapv:UnspecifiedMatching -OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:SPIRE1 semapv:UnspecifiedMatching -OMIM:609216 SPIRE1 skos:exactMatch ncbigene:56907 semapv:UnspecifiedMatching -OMIM:609217 SPIRE2 skos:exactMatch UMLS:C1539845 semapv:UnspecifiedMatching -OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:30623 semapv:UnspecifiedMatching -OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:SPIRE2 semapv:UnspecifiedMatching -OMIM:609217 SPIRE2 skos:exactMatch ncbigene:84501 semapv:UnspecifiedMatching -OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:20141 semapv:UnspecifiedMatching -OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:NUDT14 semapv:UnspecifiedMatching -OMIM:609219 NUDT14 skos:exactMatch ncbigene:256281 semapv:UnspecifiedMatching -OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:29830 semapv:UnspecifiedMatching -OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:NAT10 semapv:UnspecifiedMatching -OMIM:609221 NAT10 skos:exactMatch ncbigene:55226 semapv:UnspecifiedMatching -OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch UMLS:C2674987 semapv:UnspecifiedMatching -OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:25471 semapv:UnspecifiedMatching -OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:WIPI1 semapv:UnspecifiedMatching -OMIM:609224 WIPI1 skos:exactMatch ncbigene:55062 semapv:UnspecifiedMatching -OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:32225 semapv:UnspecifiedMatching -OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:WIPI2 semapv:UnspecifiedMatching -OMIM:609225 WIPI2 skos:exactMatch ncbigene:26100 semapv:UnspecifiedMatching -OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:25072 semapv:UnspecifiedMatching -OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:WDR45B semapv:UnspecifiedMatching -OMIM:609226 WDR45B skos:exactMatch ncbigene:56270 semapv:UnspecifiedMatching -OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:8050 semapv:UnspecifiedMatching -OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:NUDT3 semapv:UnspecifiedMatching -OMIM:609228 NUDT3 skos:exactMatch ncbigene:11165 semapv:UnspecifiedMatching -OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:8051 semapv:UnspecifiedMatching -OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:NUDT4 semapv:UnspecifiedMatching -OMIM:609229 NUDT4 skos:exactMatch ncbigene:11163 semapv:UnspecifiedMatching -OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:8052 semapv:UnspecifiedMatching -OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:NUDT5 semapv:UnspecifiedMatching -OMIM:609230 NUDT5 skos:exactMatch ncbigene:11164 semapv:UnspecifiedMatching -OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:8054 semapv:UnspecifiedMatching -OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:NUDT7 semapv:UnspecifiedMatching -OMIM:609231 NUDT7 skos:exactMatch ncbigene:283927 semapv:UnspecifiedMatching -OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:18826 semapv:UnspecifiedMatching -OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:NUDT12 semapv:UnspecifiedMatching -OMIM:609232 NUDT12 skos:exactMatch ncbigene:83594 semapv:UnspecifiedMatching -OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:18827 semapv:UnspecifiedMatching -OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:NUDT13 semapv:UnspecifiedMatching -OMIM:609233 NUDT13 skos:exactMatch ncbigene:25961 semapv:UnspecifiedMatching -OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:3254 semapv:UnspecifiedMatching -OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:EIF2A semapv:UnspecifiedMatching -OMIM:609234 EIF2A skos:exactMatch ncbigene:83939 semapv:UnspecifiedMatching -OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:18994 semapv:UnspecifiedMatching -OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:BRSK1 semapv:UnspecifiedMatching -OMIM:609235 BRSK1 skos:exactMatch ncbigene:84446 semapv:UnspecifiedMatching -OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:11405 semapv:UnspecifiedMatching -OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:BRSK2 semapv:UnspecifiedMatching -OMIM:609236 BRSK2 skos:exactMatch ncbigene:9024 semapv:UnspecifiedMatching -OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:28949 semapv:UnspecifiedMatching -OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:IQCB1 semapv:UnspecifiedMatching -OMIM:609237 IQCB1 skos:exactMatch ncbigene:9657 semapv:UnspecifiedMatching -OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:24663 semapv:UnspecifiedMatching -OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:RABGAP1L semapv:UnspecifiedMatching -OMIM:609238 RABGAP1L skos:exactMatch ncbigene:9910 semapv:UnspecifiedMatching -OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:15520 semapv:UnspecifiedMatching -OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:LPAR6 semapv:UnspecifiedMatching -OMIM:609239 LPAR6 skos:exactMatch ncbigene:10161 semapv:UnspecifiedMatching -OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:19682 semapv:UnspecifiedMatching -OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:HASPIN semapv:UnspecifiedMatching -OMIM:609240 HASPIN skos:exactMatch ncbigene:83903 semapv:UnspecifiedMatching -OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:16793 semapv:UnspecifiedMatching -OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:RAET1E semapv:UnspecifiedMatching -OMIM:609243 RAET1E skos:exactMatch ncbigene:135250 semapv:UnspecifiedMatching -OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:16795 semapv:UnspecifiedMatching -OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:RAET1G semapv:UnspecifiedMatching -OMIM:609244 RAET1G skos:exactMatch ncbigene:353091 semapv:UnspecifiedMatching -OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:29501 semapv:UnspecifiedMatching -OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:GPSM2 semapv:UnspecifiedMatching -OMIM:609245 GPSM2 skos:exactMatch ncbigene:29899 semapv:UnspecifiedMatching -OMIM:609246 PDXP skos:exactMatch hgnc.symbol:30259 semapv:UnspecifiedMatching -OMIM:609246 PDXP skos:exactMatch hgnc.symbol:PDXP semapv:UnspecifiedMatching -OMIM:609246 PDXP skos:exactMatch ncbigene:57026 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch UMLS:C1419415 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:10057 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:RNF13 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch ncbigene:11342 semapv:UnspecifiedMatching -OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:24521 semapv:UnspecifiedMatching -OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:HERC4 semapv:UnspecifiedMatching -OMIM:609248 HERC4 skos:exactMatch ncbigene:26091 semapv:UnspecifiedMatching -OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:26072 semapv:UnspecifiedMatching -OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:HERC6 semapv:UnspecifiedMatching -OMIM:609249 HERC6 skos:exactMatch ncbigene:55008 semapv:UnspecifiedMatching -OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:26431 semapv:UnspecifiedMatching -OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:FCRLB semapv:UnspecifiedMatching -OMIM:609251 FCRLB skos:exactMatch ncbigene:127943 semapv:UnspecifiedMatching -OMIM:609252 LIPI skos:exactMatch hgnc.symbol:18821 semapv:UnspecifiedMatching -OMIM:609252 LIPI skos:exactMatch hgnc.symbol:LIPI semapv:UnspecifiedMatching -OMIM:609252 LIPI skos:exactMatch ncbigene:149998 semapv:UnspecifiedMatching -OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching -OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C1836485 semapv:UnspecifiedMatching -OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching -OMIM:609262 CRBN skos:exactMatch hgnc.symbol:30185 semapv:UnspecifiedMatching -OMIM:609262 CRBN skos:exactMatch hgnc.symbol:CRBN semapv:UnspecifiedMatching -OMIM:609262 CRBN skos:exactMatch ncbigene:51185 semapv:UnspecifiedMatching -OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:30379 semapv:UnspecifiedMatching -OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:SEH1L semapv:UnspecifiedMatching -OMIM:609263 SEH1L skos:exactMatch ncbigene:81929 semapv:UnspecifiedMatching -OMIM:609264 NUP37 skos:exactMatch hgnc.symbol:29929 semapv:UnspecifiedMatching -OMIM:609264 NUP37 skos:exactMatch hgnc.symbol:NUP37 semapv:UnspecifiedMatching -OMIM:609264 NUP37 skos:exactMatch ncbigene:79023 semapv:UnspecifiedMatching -OMIM:609267 MAGEF1 skos:exactMatch hgnc.symbol:29639 semapv:UnspecifiedMatching -OMIM:609267 MAGEF1 skos:exactMatch hgnc.symbol:MAGEF1 semapv:UnspecifiedMatching -OMIM:609267 MAGEF1 skos:exactMatch ncbigene:64110 semapv:UnspecifiedMatching -OMIM:609268 SREK1 skos:exactMatch hgnc.symbol:17882 semapv:UnspecifiedMatching -OMIM:609268 SREK1 skos:exactMatch hgnc.symbol:SREK1 semapv:UnspecifiedMatching -OMIM:609268 SREK1 skos:exactMatch ncbigene:140890 semapv:UnspecifiedMatching -OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:21580 semapv:UnspecifiedMatching -OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:KIAA0319 semapv:UnspecifiedMatching -OMIM:609269 KIAA0319 skos:exactMatch ncbigene:9856 semapv:UnspecifiedMatching -OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:14118 semapv:UnspecifiedMatching -OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:TPSD1 semapv:UnspecifiedMatching -OMIM:609272 TPSD1 skos:exactMatch ncbigene:23430 semapv:UnspecifiedMatching -OMIM:609273 nemaline myopathy 6 skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching -OMIM:609273 nemaline myopathy 6 skos:exactMatch UMLS:C1836472 semapv:UnspecifiedMatching -OMIM:609274 NACA2 skos:exactMatch hgnc.symbol:23290 semapv:UnspecifiedMatching -OMIM:609274 NACA2 skos:exactMatch hgnc.symbol:NACA2 semapv:UnspecifiedMatching -OMIM:609274 NACA2 skos:exactMatch ncbigene:342538 semapv:UnspecifiedMatching -OMIM:609275 RAB3GAP2 skos:exactMatch hgnc.symbol:17168 semapv:UnspecifiedMatching -OMIM:609275 RAB3GAP2 skos:exactMatch hgnc.symbol:RAB3GAP2 semapv:UnspecifiedMatching -OMIM:609275 RAB3GAP2 skos:exactMatch ncbigene:25782 semapv:UnspecifiedMatching -OMIM:609276 NCAPD3 skos:exactMatch hgnc.symbol:28952 semapv:UnspecifiedMatching -OMIM:609276 NCAPD3 skos:exactMatch hgnc.symbol:NCAPD3 semapv:UnspecifiedMatching -OMIM:609276 NCAPD3 skos:exactMatch ncbigene:23310 semapv:UnspecifiedMatching -OMIM:609277 MOCS3 skos:exactMatch hgnc.symbol:15765 semapv:UnspecifiedMatching -OMIM:609277 MOCS3 skos:exactMatch hgnc.symbol:MOCS3 semapv:UnspecifiedMatching -OMIM:609277 MOCS3 skos:exactMatch ncbigene:27304 semapv:UnspecifiedMatching -OMIM:609278 IZUMO1 skos:exactMatch UMLS:C1825632 semapv:UnspecifiedMatching -OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:28539 semapv:UnspecifiedMatching -OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:IZUMO1 semapv:UnspecifiedMatching -OMIM:609278 IZUMO1 skos:exactMatch ncbigene:284359 semapv:UnspecifiedMatching -OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:17272 semapv:UnspecifiedMatching -OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:CENPJ semapv:UnspecifiedMatching -OMIM:609279 CENPJ skos:exactMatch ncbigene:55835 semapv:UnspecifiedMatching -OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:19687 semapv:UnspecifiedMatching -OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:EIF2AK4 semapv:UnspecifiedMatching -OMIM:609280 EIF2AK4 skos:exactMatch ncbigene:440275 semapv:UnspecifiedMatching -OMIM:609281 MOB1A skos:exactMatch hgnc.symbol:16015 semapv:UnspecifiedMatching -OMIM:609281 MOB1A skos:exactMatch hgnc.symbol:MOB1A semapv:UnspecifiedMatching -OMIM:609281 MOB1A skos:exactMatch ncbigene:55233 semapv:UnspecifiedMatching -OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:29801 semapv:UnspecifiedMatching -OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:MOB1B semapv:UnspecifiedMatching -OMIM:609282 MOB1B skos:exactMatch ncbigene:92597 semapv:UnspecifiedMatching -OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching -OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C1836448 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C3714994 semapv:UnspecifiedMatching -OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching -OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching -OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:10833 semapv:UnspecifiedMatching -OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:SH3GLB1 semapv:UnspecifiedMatching -OMIM:609287 SH3GLB1 skos:exactMatch ncbigene:51100 semapv:UnspecifiedMatching -OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:10834 semapv:UnspecifiedMatching -OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:SH3GLB2 semapv:UnspecifiedMatching -OMIM:609288 SH3GLB2 skos:exactMatch ncbigene:56904 semapv:UnspecifiedMatching -OMIM:609290 AK3 skos:exactMatch hgnc.symbol:17376 semapv:UnspecifiedMatching -OMIM:609290 AK3 skos:exactMatch hgnc.symbol:AK3 semapv:UnspecifiedMatching -OMIM:609290 AK3 skos:exactMatch ncbigene:50808 semapv:UnspecifiedMatching -OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:20249 semapv:UnspecifiedMatching -OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:SPRED1 semapv:UnspecifiedMatching -OMIM:609291 SPRED1 skos:exactMatch ncbigene:161742 semapv:UnspecifiedMatching -OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:17722 semapv:UnspecifiedMatching -OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:SPRED2 semapv:UnspecifiedMatching -OMIM:609292 SPRED2 skos:exactMatch ncbigene:200734 semapv:UnspecifiedMatching -OMIM:609293 SPRED3 skos:exactMatch hgnc.symbol:31041 semapv:UnspecifiedMatching -OMIM:609293 SPRED3 skos:exactMatch hgnc.symbol:SPRED3 semapv:UnspecifiedMatching -OMIM:609293 SPRED3 skos:exactMatch ncbigene:399473 semapv:UnspecifiedMatching -OMIM:609294 SEMA6C skos:exactMatch UMLS:C1419958 semapv:UnspecifiedMatching -OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:10740 semapv:UnspecifiedMatching -OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:SEMA6C semapv:UnspecifiedMatching -OMIM:609294 SEMA6C skos:exactMatch ncbigene:10500 semapv:UnspecifiedMatching -OMIM:609295 SEMA6D skos:exactMatch UMLS:C1539745 semapv:UnspecifiedMatching -OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:16770 semapv:UnspecifiedMatching -OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:SEMA6D semapv:UnspecifiedMatching -OMIM:609295 SEMA6D skos:exactMatch ncbigene:80031 semapv:UnspecifiedMatching -OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:10736 semapv:UnspecifiedMatching -OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:SEMA5A semapv:UnspecifiedMatching -OMIM:609297 SEMA5A skos:exactMatch ncbigene:9037 semapv:UnspecifiedMatching -OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:10737 semapv:UnspecifiedMatching -OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:SEMA5B semapv:UnspecifiedMatching -OMIM:609298 SEMA5B skos:exactMatch ncbigene:54437 semapv:UnspecifiedMatching -OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:2593 semapv:UnspecifiedMatching -OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:CYP17A1 semapv:UnspecifiedMatching -OMIM:609300 CYP17A1 skos:exactMatch ncbigene:1586 semapv:UnspecifiedMatching -OMIM:609301 PERP skos:exactMatch hgnc.symbol:17637 semapv:UnspecifiedMatching -OMIM:609301 PERP skos:exactMatch hgnc.symbol:PERP semapv:UnspecifiedMatching -OMIM:609301 PERP skos:exactMatch ncbigene:64065 semapv:UnspecifiedMatching -OMIM:609302 SLC25A22 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching -OMIM:609302 SLC25A22 skos:exactMatch UMLS:C1426556 semapv:UnspecifiedMatching -OMIM:609302 SLC25A22 skos:exactMatch hgnc.symbol:19954 semapv:UnspecifiedMatching -OMIM:609302 SLC25A22 skos:exactMatch hgnc.symbol:SLC25A22 semapv:UnspecifiedMatching -OMIM:609302 SLC25A22 skos:exactMatch ncbigene:79751 semapv:UnspecifiedMatching -OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:10988 semapv:UnspecifiedMatching -OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:SLC25A18 semapv:UnspecifiedMatching -OMIM:609303 SLC25A18 skos:exactMatch ncbigene:83733 semapv:UnspecifiedMatching -OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching -OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching -OMIM:609305 LXN skos:exactMatch hgnc.symbol:13347 semapv:UnspecifiedMatching -OMIM:609305 LXN skos:exactMatch hgnc.symbol:LXN semapv:UnspecifiedMatching -OMIM:609305 LXN skos:exactMatch ncbigene:56925 semapv:UnspecifiedMatching -OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch Orphanet:86812 semapv:UnspecifiedMatching -OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C0879290 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C4017191 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:7325 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:MSH2 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch ncbigene:4436 semapv:UnspecifiedMatching -OMIM:609312 DBH skos:exactMatch hgnc.symbol:2689 semapv:UnspecifiedMatching -OMIM:609312 DBH skos:exactMatch hgnc.symbol:DBH semapv:UnspecifiedMatching -OMIM:609312 DBH skos:exactMatch ncbigene:1621 semapv:UnspecifiedMatching -OMIM:609313 mednik syndrome skos:exactMatch Orphanet:171851 semapv:UnspecifiedMatching -OMIM:609313 mednik syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching -OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:12371 semapv:UnspecifiedMatching -OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:RSPH1 semapv:UnspecifiedMatching -OMIM:609314 RSPH1 skos:exactMatch ncbigene:89765 semapv:UnspecifiedMatching -OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:16278 semapv:UnspecifiedMatching -OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:TRIM7 semapv:UnspecifiedMatching -OMIM:609315 TRIM7 skos:exactMatch ncbigene:81786 semapv:UnspecifiedMatching -OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:16289 semapv:UnspecifiedMatching -OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:TRIM31 semapv:UnspecifiedMatching -OMIM:609316 TRIM31 skos:exactMatch ncbigene:11074 semapv:UnspecifiedMatching -OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:16280 semapv:UnspecifiedMatching -OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:TRIM36 semapv:UnspecifiedMatching -OMIM:609317 TRIM36 skos:exactMatch ncbigene:55521 semapv:UnspecifiedMatching -OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:19018 semapv:UnspecifiedMatching -OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:TRIM45 semapv:UnspecifiedMatching -OMIM:609318 TRIM45 skos:exactMatch ncbigene:80263 semapv:UnspecifiedMatching -OMIM:609321 SASS6 skos:exactMatch UMLS:C1822613 semapv:UnspecifiedMatching -OMIM:609321 SASS6 skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching -OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:25403 semapv:UnspecifiedMatching -OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:SASS6 semapv:UnspecifiedMatching -OMIM:609321 SASS6 skos:exactMatch ncbigene:163786 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:231108 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:69077 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C0206743 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching -OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:18003 semapv:UnspecifiedMatching -OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:OLIG3 semapv:UnspecifiedMatching -OMIM:609323 OLIG3 skos:exactMatch ncbigene:167826 semapv:UnspecifiedMatching -OMIM:609326 MIR1-1 skos:exactMatch UMLS:C1537699 semapv:UnspecifiedMatching -OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:31499 semapv:UnspecifiedMatching -OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:MIR1-1 semapv:UnspecifiedMatching -OMIM:609326 MIR1-1 skos:exactMatch ncbigene:406904 semapv:UnspecifiedMatching -OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:31502 semapv:UnspecifiedMatching -OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:MIR124-1 semapv:UnspecifiedMatching -OMIM:609327 MIR124-1 skos:exactMatch ncbigene:406907 semapv:UnspecifiedMatching -OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:14859 semapv:UnspecifiedMatching -OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:UCK1 semapv:UnspecifiedMatching -OMIM:609328 UCK1 skos:exactMatch ncbigene:83549 semapv:UnspecifiedMatching -OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:12562 semapv:UnspecifiedMatching -OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:UCK2 semapv:UnspecifiedMatching -OMIM:609329 UCK2 skos:exactMatch ncbigene:7371 semapv:UnspecifiedMatching -OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:29953 semapv:UnspecifiedMatching -OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:OIT3 semapv:UnspecifiedMatching -OMIM:609330 OIT3 skos:exactMatch ncbigene:170392 semapv:UnspecifiedMatching -OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:16093 semapv:UnspecifiedMatching -OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:BHLHE23 semapv:UnspecifiedMatching -OMIM:609331 BHLHE23 skos:exactMatch ncbigene:128408 semapv:UnspecifiedMatching -OMIM:609332 TTC7A skos:exactMatch hgnc.symbol:19750 semapv:UnspecifiedMatching -OMIM:609332 TTC7A skos:exactMatch hgnc.symbol:TTC7A semapv:UnspecifiedMatching -OMIM:609332 TTC7A skos:exactMatch ncbigene:57217 semapv:UnspecifiedMatching -OMIM:609333 TAAR1 skos:exactMatch hgnc.symbol:17734 semapv:UnspecifiedMatching -OMIM:609333 TAAR1 skos:exactMatch hgnc.symbol:TAAR1 semapv:UnspecifiedMatching -OMIM:609333 TAAR1 skos:exactMatch ncbigene:134864 semapv:UnspecifiedMatching -OMIM:609335 ODR4 skos:exactMatch hgnc.symbol:24299 semapv:UnspecifiedMatching -OMIM:609335 ODR4 skos:exactMatch hgnc.symbol:ODR4 semapv:UnspecifiedMatching -OMIM:609335 ODR4 skos:exactMatch ncbigene:54953 semapv:UnspecifiedMatching -OMIM:609336 ANGPTL6 skos:exactMatch hgnc.symbol:23140 semapv:UnspecifiedMatching -OMIM:609336 ANGPTL6 skos:exactMatch hgnc.symbol:ANGPTL6 semapv:UnspecifiedMatching -OMIM:609336 ANGPTL6 skos:exactMatch ncbigene:83854 semapv:UnspecifiedMatching -OMIM:609337 MIR155 skos:exactMatch hgnc.symbol:31542 semapv:UnspecifiedMatching -OMIM:609337 MIR155 skos:exactMatch hgnc.symbol:MIR155 semapv:UnspecifiedMatching -OMIM:609337 MIR155 skos:exactMatch ncbigene:406947 semapv:UnspecifiedMatching -OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:14134 semapv:UnspecifiedMatching -OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:TPSG1 semapv:UnspecifiedMatching -OMIM:609341 TPSG1 skos:exactMatch ncbigene:25823 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch UMLS:C1415066 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch UMLS:C4017193 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:4268 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:CBLIF semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch ncbigene:2694 semapv:UnspecifiedMatching -OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:14368 semapv:UnspecifiedMatching -OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:PRSS22 semapv:UnspecifiedMatching -OMIM:609343 PRSS22 skos:exactMatch ncbigene:64063 semapv:UnspecifiedMatching -OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:17585 semapv:UnspecifiedMatching -OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:KCP semapv:UnspecifiedMatching -OMIM:609344 kielin/chordin-like protein skos:exactMatch ncbigene:375616 semapv:UnspecifiedMatching -OMIM:609346 REEP6 skos:exactMatch hgnc.symbol:30078 semapv:UnspecifiedMatching -OMIM:609346 REEP6 skos:exactMatch hgnc.symbol:REEP6 semapv:UnspecifiedMatching -OMIM:609346 REEP6 skos:exactMatch ncbigene:92840 semapv:UnspecifiedMatching -OMIM:609347 REEP2 skos:exactMatch hgnc.symbol:17975 semapv:UnspecifiedMatching -OMIM:609347 REEP2 skos:exactMatch hgnc.symbol:REEP2 semapv:UnspecifiedMatching -OMIM:609347 REEP2 skos:exactMatch ncbigene:51308 semapv:UnspecifiedMatching -OMIM:609348 REEP3 skos:exactMatch hgnc.symbol:23711 semapv:UnspecifiedMatching -OMIM:609348 REEP3 skos:exactMatch hgnc.symbol:REEP3 semapv:UnspecifiedMatching -OMIM:609348 REEP3 skos:exactMatch ncbigene:221035 semapv:UnspecifiedMatching -OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:26176 semapv:UnspecifiedMatching -OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:REEP4 semapv:UnspecifiedMatching -OMIM:609349 REEP4 skos:exactMatch ncbigene:80346 semapv:UnspecifiedMatching -OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:23992 semapv:UnspecifiedMatching -OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:RTP4 semapv:UnspecifiedMatching -OMIM:609350 RTP4 skos:exactMatch ncbigene:64108 semapv:UnspecifiedMatching -OMIM:609351 ARL11 skos:exactMatch UMLS:C1428339 semapv:UnspecifiedMatching -OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:24046 semapv:UnspecifiedMatching -OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:ARL11 semapv:UnspecifiedMatching -OMIM:609351 ARL11 skos:exactMatch ncbigene:115761 semapv:UnspecifiedMatching -OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:27230 semapv:UnspecifiedMatching -OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:ESCO2 semapv:UnspecifiedMatching -OMIM:609353 ESCO2 skos:exactMatch ncbigene:157570 semapv:UnspecifiedMatching -OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:31631 semapv:UnspecifiedMatching -OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:MIR32 semapv:UnspecifiedMatching -OMIM:609355 MIR32 skos:exactMatch ncbigene:407036 semapv:UnspecifiedMatching -OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:17634 semapv:UnspecifiedMatching -OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:NUFIP2 semapv:UnspecifiedMatching -OMIM:609356 NUFIP2 skos:exactMatch ncbigene:57532 semapv:UnspecifiedMatching -OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:18043 semapv:UnspecifiedMatching -OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:MCM10 semapv:UnspecifiedMatching -OMIM:609357 MCM10 skos:exactMatch ncbigene:55388 semapv:UnspecifiedMatching -OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:3491 semapv:UnspecifiedMatching -OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:ETV2 semapv:UnspecifiedMatching -OMIM:609358 ETV2 skos:exactMatch ncbigene:2116 semapv:UnspecifiedMatching -OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:24979 semapv:UnspecifiedMatching -OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:HS1BP3 semapv:UnspecifiedMatching -OMIM:609359 HS1BP3 skos:exactMatch ncbigene:64342 semapv:UnspecifiedMatching -OMIM:609360 RNLS skos:exactMatch hgnc.symbol:25641 semapv:UnspecifiedMatching -OMIM:609360 RNLS skos:exactMatch hgnc.symbol:RNLS semapv:UnspecifiedMatching -OMIM:609360 RNLS skos:exactMatch ncbigene:55328 semapv:UnspecifiedMatching -OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:17261 semapv:UnspecifiedMatching -OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:MOB4 semapv:UnspecifiedMatching -OMIM:609361 MOB4 skos:exactMatch ncbigene:25843 semapv:UnspecifiedMatching -OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:17163 semapv:UnspecifiedMatching -OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:PLA2G15 semapv:UnspecifiedMatching -OMIM:609362 LYPLA3 skos:exactMatch ncbigene:23659 semapv:UnspecifiedMatching -OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:22948 semapv:UnspecifiedMatching -OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:NLRP2 semapv:UnspecifiedMatching -OMIM:609364 NLRP2 skos:exactMatch ncbigene:55655 semapv:UnspecifiedMatching -OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:29925 semapv:UnspecifiedMatching -OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:GNL2 semapv:UnspecifiedMatching -OMIM:609365 GNL2 skos:exactMatch ncbigene:29889 semapv:UnspecifiedMatching -OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:16850 semapv:UnspecifiedMatching -OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:CTR9 semapv:UnspecifiedMatching -OMIM:609366 CTR9 skos:exactMatch ncbigene:9646 semapv:UnspecifiedMatching -OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:23419 semapv:UnspecifiedMatching -OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:KIFBP semapv:UnspecifiedMatching -OMIM:609367 KIFBP skos:exactMatch ncbigene:26128 semapv:UnspecifiedMatching -OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:24047 semapv:UnspecifiedMatching -OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:ATL2 semapv:UnspecifiedMatching -OMIM:609368 ATL2 skos:exactMatch ncbigene:64225 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch UMLS:C1836273 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:24526 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:ATL3 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch ncbigene:25923 semapv:UnspecifiedMatching -OMIM:609370 STK35 skos:exactMatch hgnc.symbol:16254 semapv:UnspecifiedMatching -OMIM:609370 STK35 skos:exactMatch hgnc.symbol:STK35 semapv:UnspecifiedMatching -OMIM:609370 STK35 skos:exactMatch ncbigene:140901 semapv:UnspecifiedMatching -OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:1335 semapv:UnspecifiedMatching -OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:FAM13B semapv:UnspecifiedMatching -OMIM:609371 C5ORF5 skos:exactMatch ncbigene:51306 semapv:UnspecifiedMatching -OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:1336 semapv:UnspecifiedMatching -OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:FAM53C semapv:UnspecifiedMatching -OMIM:609372 FAM53C skos:exactMatch ncbigene:51307 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch UMLS:C1413012 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:1337 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:KDM3B semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch ncbigene:51780 semapv:UnspecifiedMatching -OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:14626 semapv:UnspecifiedMatching -OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:CDCA5 semapv:UnspecifiedMatching -OMIM:609374 CDCA5 skos:exactMatch ncbigene:113130 semapv:UnspecifiedMatching -OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:30830 semapv:UnspecifiedMatching -OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:LIN9 semapv:UnspecifiedMatching -OMIM:609375 LIN9 skos:exactMatch ncbigene:286826 semapv:UnspecifiedMatching -OMIM:609377 ACD skos:exactMatch hgnc.symbol:25070 semapv:UnspecifiedMatching -OMIM:609377 ACD skos:exactMatch hgnc.symbol:ACD semapv:UnspecifiedMatching -OMIM:609377 ACD skos:exactMatch ncbigene:65057 semapv:UnspecifiedMatching -OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:17337 semapv:UnspecifiedMatching -OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:LCN6 semapv:UnspecifiedMatching -OMIM:609379 LCN6 skos:exactMatch ncbigene:158062 semapv:UnspecifiedMatching -OMIM:609380 LMLN skos:exactMatch hgnc.symbol:15991 semapv:UnspecifiedMatching -OMIM:609380 LMLN skos:exactMatch hgnc.symbol:LMLN semapv:UnspecifiedMatching -OMIM:609380 LMLN skos:exactMatch ncbigene:89782 semapv:UnspecifiedMatching -OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:30757 semapv:UnspecifiedMatching -OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:STXBP5L semapv:UnspecifiedMatching -OMIM:609381 STXBP5L skos:exactMatch ncbigene:9515 semapv:UnspecifiedMatching -OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:18550 semapv:UnspecifiedMatching -OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:IER3IP1 semapv:UnspecifiedMatching -OMIM:609382 IER3IP1 skos:exactMatch ncbigene:51124 semapv:UnspecifiedMatching -OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:28018 semapv:UnspecifiedMatching -OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:NIPAL4 semapv:UnspecifiedMatching -OMIM:609383 NIPAL4 skos:exactMatch ncbigene:348938 semapv:UnspecifiedMatching -OMIM:609385 DND1 skos:exactMatch hgnc.symbol:23799 semapv:UnspecifiedMatching -OMIM:609385 DND1 skos:exactMatch hgnc.symbol:DND1 semapv:UnspecifiedMatching -OMIM:609385 DND1 skos:exactMatch ncbigene:373863 semapv:UnspecifiedMatching -OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:20465 semapv:UnspecifiedMatching -OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:SMC5 semapv:UnspecifiedMatching -OMIM:609386 SMC5 skos:exactMatch ncbigene:23137 semapv:UnspecifiedMatching -OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:20466 semapv:UnspecifiedMatching -OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:SMC6 semapv:UnspecifiedMatching -OMIM:609387 SMC6 skos:exactMatch ncbigene:79677 semapv:UnspecifiedMatching -OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:24586 semapv:UnspecifiedMatching -OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:METTL9 semapv:UnspecifiedMatching -OMIM:609388 METTL9 skos:exactMatch ncbigene:51108 semapv:UnspecifiedMatching -OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:17054 semapv:UnspecifiedMatching -OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:INPP5F semapv:UnspecifiedMatching -OMIM:609389 INPP5F skos:exactMatch ncbigene:22876 semapv:UnspecifiedMatching -OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:16873 semapv:UnspecifiedMatching -OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:FIG4 semapv:UnspecifiedMatching -OMIM:609390 FIG4 skos:exactMatch ncbigene:9896 semapv:UnspecifiedMatching -OMIM:609391 SP5 skos:exactMatch hgnc.symbol:14529 semapv:UnspecifiedMatching -OMIM:609391 SP5 skos:exactMatch hgnc.symbol:SP5 semapv:UnspecifiedMatching -OMIM:609391 SP5 skos:exactMatch ncbigene:389058 semapv:UnspecifiedMatching -OMIM:609392 KLF3 skos:exactMatch UMLS:C1424346 semapv:UnspecifiedMatching -OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:16516 semapv:UnspecifiedMatching -OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:KLF3 semapv:UnspecifiedMatching -OMIM:609392 KLF3 skos:exactMatch ncbigene:51274 semapv:UnspecifiedMatching -OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:23025 semapv:UnspecifiedMatching -OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:KLF14 semapv:UnspecifiedMatching -OMIM:609393 KLF14 skos:exactMatch ncbigene:136259 semapv:UnspecifiedMatching -OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:26913 semapv:UnspecifiedMatching -OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:SPC24 semapv:UnspecifiedMatching -OMIM:609394 SPC24 skos:exactMatch ncbigene:147841 semapv:UnspecifiedMatching -OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:24031 semapv:UnspecifiedMatching -OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:SPC25 semapv:UnspecifiedMatching -OMIM:609395 SPC25 skos:exactMatch ncbigene:57405 semapv:UnspecifiedMatching -OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:20610 semapv:UnspecifiedMatching -OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:PHLPP1 semapv:UnspecifiedMatching -OMIM:609396 PHLPP1 skos:exactMatch ncbigene:23239 semapv:UnspecifiedMatching -OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:23508 semapv:UnspecifiedMatching -OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:STOX1 semapv:UnspecifiedMatching -OMIM:609397 STOX1 skos:exactMatch ncbigene:219736 semapv:UnspecifiedMatching -OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:13527 semapv:UnspecifiedMatching -OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:ATP6V1D semapv:UnspecifiedMatching -OMIM:609398 ATP6V1D skos:exactMatch ncbigene:51382 semapv:UnspecifiedMatching -OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:15570 semapv:UnspecifiedMatching -OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:SPESP1 semapv:UnspecifiedMatching -OMIM:609399 SPESP1 skos:exactMatch ncbigene:246777 semapv:UnspecifiedMatching -OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:19134 semapv:UnspecifiedMatching -OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:HS6ST3 semapv:UnspecifiedMatching -OMIM:609401 HS6ST3 skos:exactMatch ncbigene:266722 semapv:UnspecifiedMatching -OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:677 semapv:UnspecifiedMatching -OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:ARHGAP8 semapv:UnspecifiedMatching -OMIM:609405 ARHGAP8 skos:exactMatch ncbigene:23779 semapv:UnspecifiedMatching -OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:31682 semapv:UnspecifiedMatching -OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:PRR5 semapv:UnspecifiedMatching -OMIM:609406 PRR5 skos:exactMatch ncbigene:55615 semapv:UnspecifiedMatching -OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:19419 semapv:UnspecifiedMatching -OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:HS3ST5 semapv:UnspecifiedMatching -OMIM:609407 HS3ST5 skos:exactMatch ncbigene:222537 semapv:UnspecifiedMatching -OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:5030 semapv:UnspecifiedMatching -OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:HNRNPA0 semapv:UnspecifiedMatching -OMIM:609409 HNRNPA0 skos:exactMatch ncbigene:10949 semapv:UnspecifiedMatching -OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:11504 semapv:UnspecifiedMatching -OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:SYNJ2 semapv:UnspecifiedMatching -OMIM:609410 SYNJ2 skos:exactMatch ncbigene:8871 semapv:UnspecifiedMatching -OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:18955 semapv:UnspecifiedMatching -OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:SYNJ2BP semapv:UnspecifiedMatching -OMIM:609411 SYNJ2BP skos:exactMatch ncbigene:55333 semapv:UnspecifiedMatching -OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:3439 semapv:UnspecifiedMatching -OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:ERCC8 semapv:UnspecifiedMatching -OMIM:609412 ERCC8 skos:exactMatch ncbigene:1161 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C0265201 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C1366757 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C1426221 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C2674950 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C3551173 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C4017197 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch UMLS:C4310783 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:3438 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:ERCC6 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch ncbigene:2074 semapv:UnspecifiedMatching -OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:23785 semapv:UnspecifiedMatching -OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:PIKFYVE semapv:UnspecifiedMatching -OMIM:609414 PIKFYVE skos:exactMatch ncbigene:200576 semapv:UnspecifiedMatching -OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:23564 semapv:UnspecifiedMatching -OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:MIR17HG semapv:UnspecifiedMatching -OMIM:609415 MIR17HG skos:exactMatch ncbigene:407975 semapv:UnspecifiedMatching -OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:31547 semapv:UnspecifiedMatching -OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:MIR17 semapv:UnspecifiedMatching -OMIM:609416 MIR17 skos:exactMatch ncbigene:406952 semapv:UnspecifiedMatching -OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:31548 semapv:UnspecifiedMatching -OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:MIR18A semapv:UnspecifiedMatching -OMIM:609417 MIR18A skos:exactMatch ncbigene:406953 semapv:UnspecifiedMatching -OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:31574 semapv:UnspecifiedMatching -OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:MIR19A semapv:UnspecifiedMatching -OMIM:609418 MIR19A skos:exactMatch ncbigene:406979 semapv:UnspecifiedMatching -OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:31575 semapv:UnspecifiedMatching -OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:MIR19B1 semapv:UnspecifiedMatching -OMIM:609419 MIR19B1 skos:exactMatch ncbigene:406980 semapv:UnspecifiedMatching -OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:31577 semapv:UnspecifiedMatching -OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:MIR20A semapv:UnspecifiedMatching -OMIM:609420 MIR20A skos:exactMatch ncbigene:406982 semapv:UnspecifiedMatching -OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:31643 semapv:UnspecifiedMatching -OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:MIR92A1 semapv:UnspecifiedMatching -OMIM:609422 MIR92A1 skos:exactMatch ncbigene:407048 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch UMLS:C1826784 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:29434 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:RC3H1 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch ncbigene:149041 semapv:UnspecifiedMatching -OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:17565 semapv:UnspecifiedMatching -OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:MINK1 semapv:UnspecifiedMatching -OMIM:609426 MINK1 skos:exactMatch ncbigene:50488 semapv:UnspecifiedMatching -OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:21253 semapv:UnspecifiedMatching -OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:LHFPL5 semapv:UnspecifiedMatching -OMIM:609427 LHFPL5 skos:exactMatch ncbigene:222662 semapv:UnspecifiedMatching -OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:21399 semapv:UnspecifiedMatching -OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:FOXN4 semapv:UnspecifiedMatching -OMIM:609429 FOXN4 skos:exactMatch ncbigene:121643 semapv:UnspecifiedMatching -OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:19311 semapv:UnspecifiedMatching -OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:NPAS3 semapv:UnspecifiedMatching -OMIM:609430 NPAS3 skos:exactMatch ncbigene:64067 semapv:UnspecifiedMatching -OMIM:609431 MBIP skos:exactMatch hgnc.symbol:20427 semapv:UnspecifiedMatching -OMIM:609431 MBIP skos:exactMatch hgnc.symbol:MBIP semapv:UnspecifiedMatching -OMIM:609431 MBIP skos:exactMatch ncbigene:51562 semapv:UnspecifiedMatching -OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:30298 semapv:UnspecifiedMatching -OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:UIMC1 semapv:UnspecifiedMatching -OMIM:609433 UIMC1 skos:exactMatch ncbigene:51720 semapv:UnspecifiedMatching -OMIM:609434 LUC7L3 skos:exactMatch UMLS:C1836205 semapv:UnspecifiedMatching -OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:24309 semapv:UnspecifiedMatching -OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:LUC7L3 semapv:UnspecifiedMatching -OMIM:609434 LUC7L3 skos:exactMatch ncbigene:51747 semapv:UnspecifiedMatching -OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:17194 semapv:UnspecifiedMatching -OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:NDUFA13 semapv:UnspecifiedMatching -OMIM:609435 NDUFA13 skos:exactMatch ncbigene:51079 semapv:UnspecifiedMatching -OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:3678 semapv:UnspecifiedMatching -OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:FGF21 semapv:UnspecifiedMatching -OMIM:609436 FGF21 skos:exactMatch ncbigene:26291 semapv:UnspecifiedMatching -OMIM:609437 STK40 skos:exactMatch hgnc.symbol:21373 semapv:UnspecifiedMatching -OMIM:609437 STK40 skos:exactMatch hgnc.symbol:STK40 semapv:UnspecifiedMatching -OMIM:609437 STK40 skos:exactMatch ncbigene:83931 semapv:UnspecifiedMatching -OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:24329 semapv:UnspecifiedMatching -OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:UTP11 semapv:UnspecifiedMatching -OMIM:609440 UTP11L skos:exactMatch ncbigene:51118 semapv:UnspecifiedMatching -OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch Orphanet:1906 semapv:UnspecifiedMatching -OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C0236026 semapv:UnspecifiedMatching -OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C1876218 semapv:UnspecifiedMatching -OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:24609 semapv:UnspecifiedMatching -OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:CELA2A semapv:UnspecifiedMatching -OMIM:609443 CELA2A skos:exactMatch ncbigene:63036 semapv:UnspecifiedMatching -OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:29995 semapv:UnspecifiedMatching -OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:CELA2B semapv:UnspecifiedMatching -OMIM:609444 CELA2B skos:exactMatch ncbigene:51032 semapv:UnspecifiedMatching -OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:24883 semapv:UnspecifiedMatching -OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:RXFP3 semapv:UnspecifiedMatching -OMIM:609445 RXFP3 skos:exactMatch ncbigene:51289 semapv:UnspecifiedMatching -OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:30125 semapv:UnspecifiedMatching -OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:MZB1 semapv:UnspecifiedMatching -OMIM:609447 MZB1 skos:exactMatch ncbigene:51237 semapv:UnspecifiedMatching -OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:24626 semapv:UnspecifiedMatching -OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:TXNDC12 semapv:UnspecifiedMatching -OMIM:609448 TXNDC12 skos:exactMatch ncbigene:51060 semapv:UnspecifiedMatching -OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:17619 semapv:UnspecifiedMatching -OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:NDE1 semapv:UnspecifiedMatching -OMIM:609449 NDE1 skos:exactMatch ncbigene:54820 semapv:UnspecifiedMatching -OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:14008 semapv:UnspecifiedMatching -OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:MXD3 semapv:UnspecifiedMatching -OMIM:609450 MXD3 skos:exactMatch ncbigene:83463 semapv:UnspecifiedMatching -OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:23329 semapv:UnspecifiedMatching -OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:ZFP90 semapv:UnspecifiedMatching -OMIM:609451 ZFP90 skos:exactMatch ncbigene:146198 semapv:UnspecifiedMatching -OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch Orphanet:98912 semapv:UnspecifiedMatching -OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch UMLS:C4721886 semapv:UnspecifiedMatching -OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:24876 semapv:UnspecifiedMatching -OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:GOLGA7 semapv:UnspecifiedMatching -OMIM:609453 GOLGA7 skos:exactMatch ncbigene:51125 semapv:UnspecifiedMatching -OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:30134 semapv:UnspecifiedMatching -OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:PELP1 semapv:UnspecifiedMatching -OMIM:609455 PELP1 skos:exactMatch ncbigene:27043 semapv:UnspecifiedMatching -OMIM:609457 HAL skos:exactMatch UMLS:C0220992 semapv:UnspecifiedMatching -OMIM:609457 HAL skos:exactMatch UMLS:C1415465 semapv:UnspecifiedMatching -OMIM:609457 HAL skos:exactMatch hgnc.symbol:4806 semapv:UnspecifiedMatching -OMIM:609457 HAL skos:exactMatch hgnc.symbol:HAL semapv:UnspecifiedMatching -OMIM:609457 HAL skos:exactMatch ncbigene:3034 semapv:UnspecifiedMatching -OMIM:609458 MAN2B1 skos:exactMatch hgnc.symbol:6826 semapv:UnspecifiedMatching -OMIM:609458 MAN2B1 skos:exactMatch hgnc.symbol:MAN2B1 semapv:UnspecifiedMatching -OMIM:609458 MAN2B1 skos:exactMatch ncbigene:4125 semapv:UnspecifiedMatching -OMIM:609459 DGCR6L skos:exactMatch hgnc.symbol:18551 semapv:UnspecifiedMatching -OMIM:609459 DGCR6L skos:exactMatch hgnc.symbol:DGCR6L semapv:UnspecifiedMatching -OMIM:609459 DGCR6L skos:exactMatch ncbigene:85359 semapv:UnspecifiedMatching -OMIM:609461 TRIB1 skos:exactMatch hgnc.symbol:16891 semapv:UnspecifiedMatching -OMIM:609461 TRIB1 skos:exactMatch hgnc.symbol:TRIB1 semapv:UnspecifiedMatching -OMIM:609461 TRIB1 skos:exactMatch ncbigene:10221 semapv:UnspecifiedMatching -OMIM:609462 TRIB2 skos:exactMatch hgnc.symbol:30809 semapv:UnspecifiedMatching -OMIM:609462 TRIB2 skos:exactMatch hgnc.symbol:TRIB2 semapv:UnspecifiedMatching -OMIM:609462 TRIB2 skos:exactMatch ncbigene:28951 semapv:UnspecifiedMatching -OMIM:609463 MRTFB skos:exactMatch UMLS:C1537922 semapv:UnspecifiedMatching -OMIM:609463 MRTFB skos:exactMatch hgnc.symbol:29819 semapv:UnspecifiedMatching -OMIM:609463 MRTFB skos:exactMatch hgnc.symbol:MRTFB semapv:UnspecifiedMatching -OMIM:609463 MRTFB skos:exactMatch ncbigene:57496 semapv:UnspecifiedMatching -OMIM:609465 al-gazali syndrome skos:exactMatch Orphanet:2725 semapv:UnspecifiedMatching -OMIM:609465 al-gazali syndrome skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching -OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:10629 semapv:UnspecifiedMatching -OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:CCL3P1 semapv:UnspecifiedMatching -OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:30554 semapv:UnspecifiedMatching -OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:CCL3L3 semapv:UnspecifiedMatching -OMIM:609468 CCL3L3 skos:exactMatch ncbigene:414062 semapv:UnspecifiedMatching -OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:18986 semapv:UnspecifiedMatching -OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:GBA2 semapv:UnspecifiedMatching -OMIM:609471 GBA2 skos:exactMatch ncbigene:57704 semapv:UnspecifiedMatching -OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:2152 semapv:UnspecifiedMatching -OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:CNGA4 semapv:UnspecifiedMatching -OMIM:609472 CNGA4 skos:exactMatch ncbigene:1262 semapv:UnspecifiedMatching -OMIM:609473 CGN skos:exactMatch UMLS:C1424964 semapv:UnspecifiedMatching -OMIM:609473 CGN skos:exactMatch hgnc.symbol:17429 semapv:UnspecifiedMatching -OMIM:609473 CGN skos:exactMatch hgnc.symbol:CGN semapv:UnspecifiedMatching -OMIM:609473 CGN skos:exactMatch ncbigene:57530 semapv:UnspecifiedMatching -OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:7954 semapv:UnspecifiedMatching -OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:NPTXR semapv:UnspecifiedMatching -OMIM:609474 NPTXR skos:exactMatch ncbigene:23467 semapv:UnspecifiedMatching -OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:29857 semapv:UnspecifiedMatching -OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:AKAP8L semapv:UnspecifiedMatching -OMIM:609475 AKAP8L skos:exactMatch ncbigene:26993 semapv:UnspecifiedMatching -OMIM:609476 NLK skos:exactMatch hgnc.symbol:29858 semapv:UnspecifiedMatching -OMIM:609476 NLK skos:exactMatch hgnc.symbol:NLK semapv:UnspecifiedMatching -OMIM:609476 NLK skos:exactMatch ncbigene:51701 semapv:UnspecifiedMatching -OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:24810 semapv:UnspecifiedMatching -OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:SMCO4 semapv:UnspecifiedMatching -OMIM:609477 SMCO4 skos:exactMatch ncbigene:56935 semapv:UnspecifiedMatching -OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:14269 semapv:UnspecifiedMatching -OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:ST8SIA3 semapv:UnspecifiedMatching -OMIM:609478 ST8SIA3 skos:exactMatch ncbigene:51046 semapv:UnspecifiedMatching -OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:17797 semapv:UnspecifiedMatching -OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:MAP3K20 semapv:UnspecifiedMatching -OMIM:609479 MAP3K20 skos:exactMatch ncbigene:51776 semapv:UnspecifiedMatching -OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:18524 semapv:UnspecifiedMatching -OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:ISL2 semapv:UnspecifiedMatching -OMIM:609481 ISL2 skos:exactMatch ncbigene:64843 semapv:UnspecifiedMatching -OMIM:609482 AGR3 skos:exactMatch UMLS:C1836117 semapv:UnspecifiedMatching -OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:24167 semapv:UnspecifiedMatching -OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:AGR3 semapv:UnspecifiedMatching -OMIM:609482 AGR3 skos:exactMatch ncbigene:155465 semapv:UnspecifiedMatching -OMIM:609483 FAM84B skos:exactMatch hgnc.symbol:24166 semapv:UnspecifiedMatching -OMIM:609483 FAM84B skos:exactMatch hgnc.symbol:LRATD2 semapv:UnspecifiedMatching -OMIM:609483 FAM84B skos:exactMatch ncbigene:157638 semapv:UnspecifiedMatching -OMIM:609484 LYPD3 skos:exactMatch hgnc.symbol:24880 semapv:UnspecifiedMatching -OMIM:609484 LYPD3 skos:exactMatch hgnc.symbol:LYPD3 semapv:UnspecifiedMatching -OMIM:609484 LYPD3 skos:exactMatch ncbigene:27076 semapv:UnspecifiedMatching -OMIM:609485 MOAP1 skos:exactMatch hgnc.symbol:16658 semapv:UnspecifiedMatching -OMIM:609485 MOAP1 skos:exactMatch hgnc.symbol:MOAP1 semapv:UnspecifiedMatching -OMIM:609485 MOAP1 skos:exactMatch ncbigene:64112 semapv:UnspecifiedMatching -OMIM:609486 EAPP skos:exactMatch hgnc.symbol:19312 semapv:UnspecifiedMatching -OMIM:609486 EAPP skos:exactMatch hgnc.symbol:EAPP semapv:UnspecifiedMatching -OMIM:609486 EAPP skos:exactMatch ncbigene:55837 semapv:UnspecifiedMatching -OMIM:609487 MAP3K2 skos:exactMatch hgnc.symbol:6854 semapv:UnspecifiedMatching -OMIM:609487 MAP3K2 skos:exactMatch hgnc.symbol:MAP3K2 semapv:UnspecifiedMatching -OMIM:609487 MAP3K2 skos:exactMatch ncbigene:10746 semapv:UnspecifiedMatching -OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc.symbol:28504 semapv:UnspecifiedMatching -OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc.symbol:CCDC110 semapv:UnspecifiedMatching -OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch ncbigene:256309 semapv:UnspecifiedMatching -OMIM:609489 MANBA skos:exactMatch hgnc.symbol:6831 semapv:UnspecifiedMatching -OMIM:609489 MANBA skos:exactMatch hgnc.symbol:MANBA semapv:UnspecifiedMatching -OMIM:609489 MANBA skos:exactMatch ncbigene:4126 semapv:UnspecifiedMatching -OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch hgnc.symbol:CARD17P semapv:UnspecifiedMatching -OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch ncbigene:440068 semapv:UnspecifiedMatching -OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:17858 semapv:UnspecifiedMatching -OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:GPSM1 semapv:UnspecifiedMatching -OMIM:609491 GPSM1 skos:exactMatch ncbigene:26086 semapv:UnspecifiedMatching -OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:9883 semapv:UnspecifiedMatching -OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:RASSF2 semapv:UnspecifiedMatching -OMIM:609492 RASSF2 skos:exactMatch ncbigene:9770 semapv:UnspecifiedMatching -OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:15930 semapv:UnspecifiedMatching -OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:SLC2A4RG semapv:UnspecifiedMatching -OMIM:609493 SLC2A4RG skos:exactMatch ncbigene:56731 semapv:UnspecifiedMatching -OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:18737 semapv:UnspecifiedMatching -OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:ZNF395 semapv:UnspecifiedMatching -OMIM:609494 ZNF395 skos:exactMatch ncbigene:55893 semapv:UnspecifiedMatching -OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:19427 semapv:UnspecifiedMatching -OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:GGNBP1 semapv:UnspecifiedMatching -OMIM:609495 GGNBP1 skos:exactMatch ncbigene:449520 semapv:UnspecifiedMatching -OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:29499 semapv:UnspecifiedMatching -OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:ERAP2 semapv:UnspecifiedMatching -OMIM:609497 ERAP2 skos:exactMatch ncbigene:64167 semapv:UnspecifiedMatching -OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:31969 semapv:UnspecifiedMatching -OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:FBXO47 semapv:UnspecifiedMatching -OMIM:609498 f-box only protein 47 skos:exactMatch ncbigene:494188 semapv:UnspecifiedMatching -OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:14576 semapv:UnspecifiedMatching -OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:MCF2L semapv:UnspecifiedMatching -OMIM:609499 MCF2L skos:exactMatch ncbigene:23263 semapv:UnspecifiedMatching -OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:11713 semapv:UnspecifiedMatching -OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:TDRKH semapv:UnspecifiedMatching -OMIM:609501 TDRKH skos:exactMatch ncbigene:11022 semapv:UnspecifiedMatching -OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:14550 semapv:UnspecifiedMatching -OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:CDHR1 semapv:UnspecifiedMatching -OMIM:609502 CDHR1 skos:exactMatch ncbigene:92211 semapv:UnspecifiedMatching -OMIM:609503 SPMAP2 skos:exactMatch UMLS:C1422153 semapv:UnspecifiedMatching -OMIM:609503 SPMAP2 skos:exactMatch hgnc.symbol:SPMAP2 semapv:UnspecifiedMatching -OMIM:609503 SPMAP2 skos:exactMatch ncbigene:51298 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch UMLS:C1417080 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:6960 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:MCRS1 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch ncbigene:10445 semapv:UnspecifiedMatching -OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:17241 semapv:UnspecifiedMatching -OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:TRIM16 semapv:UnspecifiedMatching -OMIM:609505 TRIM16 skos:exactMatch ncbigene:10626 semapv:UnspecifiedMatching -OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:2606 semapv:UnspecifiedMatching -OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:CYP27B1 semapv:UnspecifiedMatching -OMIM:609506 CYP27B1 skos:exactMatch ncbigene:1594 semapv:UnspecifiedMatching -OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:21653 semapv:UnspecifiedMatching -OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:TOPORS semapv:UnspecifiedMatching -OMIM:609507 TOPORS skos:exactMatch ncbigene:10210 semapv:UnspecifiedMatching -OMIM:609509 IL31 skos:exactMatch hgnc.symbol:19372 semapv:UnspecifiedMatching -OMIM:609509 IL31 skos:exactMatch hgnc.symbol:IL31 semapv:UnspecifiedMatching -OMIM:609509 IL31 skos:exactMatch ncbigene:386653 semapv:UnspecifiedMatching -OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:18969 semapv:UnspecifiedMatching -OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:IL31RA semapv:UnspecifiedMatching -OMIM:609510 IL31RA skos:exactMatch ncbigene:133396 semapv:UnspecifiedMatching -OMIM:609511 RBSN skos:exactMatch UMLS:C1427116 semapv:UnspecifiedMatching -OMIM:609511 RBSN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:609511 RBSN skos:exactMatch hgnc.symbol:20759 semapv:UnspecifiedMatching -OMIM:609511 RBSN skos:exactMatch hgnc.symbol:RBSN semapv:UnspecifiedMatching -OMIM:609511 RBSN skos:exactMatch ncbigene:64145 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch UMLS:C1538456 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch UMLS:C1836076 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:24537 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:CHMP2B semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch ncbigene:25978 semapv:UnspecifiedMatching -OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:33940 semapv:UnspecifiedMatching -OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:NPS semapv:UnspecifiedMatching -OMIM:609513 neuropeptide s skos:exactMatch ncbigene:594857 semapv:UnspecifiedMatching -OMIM:609514 TAF8 skos:exactMatch UMLS:C1424885 semapv:UnspecifiedMatching -OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:17300 semapv:UnspecifiedMatching -OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:TAF8 semapv:UnspecifiedMatching -OMIM:609514 TAF8 skos:exactMatch ncbigene:129685 semapv:UnspecifiedMatching -OMIM:609516 ZNF382 skos:exactMatch hgnc.symbol:17409 semapv:UnspecifiedMatching -OMIM:609516 ZNF382 skos:exactMatch hgnc.symbol:ZNF382 semapv:UnspecifiedMatching -OMIM:609516 ZNF382 skos:exactMatch ncbigene:84911 semapv:UnspecifiedMatching -OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching -OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching -OMIM:609517 TIAF1 skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching -OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:23190 semapv:UnspecifiedMatching -OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:THAP7 semapv:UnspecifiedMatching -OMIM:609518 THAP7 skos:exactMatch ncbigene:80764 semapv:UnspecifiedMatching -OMIM:609519 TFPT skos:exactMatch hgnc.symbol:13630 semapv:UnspecifiedMatching -OMIM:609519 TFPT skos:exactMatch hgnc.symbol:TFPT semapv:UnspecifiedMatching -OMIM:609519 TFPT skos:exactMatch ncbigene:29844 semapv:UnspecifiedMatching -OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:20856 semapv:UnspecifiedMatching -OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:THAP1 semapv:UnspecifiedMatching -OMIM:609520 THAP1 skos:exactMatch ncbigene:55145 semapv:UnspecifiedMatching -OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:11012 semapv:UnspecifiedMatching -OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:SLC30A1 semapv:UnspecifiedMatching -OMIM:609521 SLC30A1 skos:exactMatch ncbigene:7779 semapv:UnspecifiedMatching -OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:30771 semapv:UnspecifiedMatching -OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:ELOA2 semapv:UnspecifiedMatching -OMIM:609522 ELOA2 skos:exactMatch ncbigene:51224 semapv:UnspecifiedMatching -OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:403 semapv:UnspecifiedMatching -OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:ALDH3A2 semapv:UnspecifiedMatching -OMIM:609523 ALDH3A2 skos:exactMatch ncbigene:224 semapv:UnspecifiedMatching -OMIM:609525 METTL8 skos:exactMatch UMLS:C1825978 semapv:UnspecifiedMatching -OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:25856 semapv:UnspecifiedMatching -OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:METTL8 semapv:UnspecifiedMatching -OMIM:609525 METTL8 skos:exactMatch ncbigene:79828 semapv:UnspecifiedMatching -OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:24501 semapv:UnspecifiedMatching -OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:PLEKHG4 semapv:UnspecifiedMatching -OMIM:609526 PLEKHG4 skos:exactMatch ncbigene:25894 semapv:UnspecifiedMatching -OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:16862 semapv:UnspecifiedMatching -OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:RAPGEF5 semapv:UnspecifiedMatching -OMIM:609527 RAPGEF5 skos:exactMatch ncbigene:9771 semapv:UnspecifiedMatching -OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:16854 semapv:UnspecifiedMatching -OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:RAPGEF2 semapv:UnspecifiedMatching -OMIM:609530 RAPGEF2 skos:exactMatch ncbigene:9693 semapv:UnspecifiedMatching -OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:14545 semapv:UnspecifiedMatching -OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:RASGRP3 semapv:UnspecifiedMatching -OMIM:609531 RASGRP3 skos:exactMatch ncbigene:25780 semapv:UnspecifiedMatching -OMIM:609532 hepatitis c virus, susceptibility to skos:exactMatch UMLS:C1835407 semapv:UnspecifiedMatching -OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:25752 semapv:UnspecifiedMatching -OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:ATAD5 semapv:UnspecifiedMatching -OMIM:609534 ATAD5 skos:exactMatch ncbigene:79915 semapv:UnspecifiedMatching -OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:26965 semapv:UnspecifiedMatching -OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:PTPMT1 semapv:UnspecifiedMatching -OMIM:609538 PTPMT1 skos:exactMatch ncbigene:114971 semapv:UnspecifiedMatching -OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:18037 semapv:UnspecifiedMatching -OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:ARID2 semapv:UnspecifiedMatching -OMIM:609539 ARID2 skos:exactMatch ncbigene:196528 semapv:UnspecifiedMatching -OMIM:609540 SKIC8 skos:exactMatch hgnc.symbol:SKIC8 semapv:UnspecifiedMatching -OMIM:609540 SKIC8 skos:exactMatch ncbigene:80349 semapv:UnspecifiedMatching -OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:13531 semapv:UnspecifiedMatching -OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:ATP8A1 semapv:UnspecifiedMatching -OMIM:609542 ATP8A1 skos:exactMatch ncbigene:10396 semapv:UnspecifiedMatching -OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:39078 semapv:UnspecifiedMatching -OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:LINC00293 semapv:UnspecifiedMatching -OMIM:609543 LINC00293 skos:exactMatch ncbigene:497634 semapv:UnspecifiedMatching -OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:24342 semapv:UnspecifiedMatching -OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:CCP110 semapv:UnspecifiedMatching -OMIM:609544 CCP110 skos:exactMatch ncbigene:9738 semapv:UnspecifiedMatching -OMIM:609546 USP29 skos:exactMatch hgnc.symbol:18563 semapv:UnspecifiedMatching -OMIM:609546 USP29 skos:exactMatch hgnc.symbol:USP29 semapv:UnspecifiedMatching -OMIM:609546 USP29 skos:exactMatch ncbigene:57663 semapv:UnspecifiedMatching -OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:6632 semapv:UnspecifiedMatching -OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:LMAN1L semapv:UnspecifiedMatching -OMIM:609548 LMAN1L skos:exactMatch ncbigene:79748 semapv:UnspecifiedMatching -OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:15462 semapv:UnspecifiedMatching -OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:ZNF330 semapv:UnspecifiedMatching -OMIM:609550 ZNF330 skos:exactMatch ncbigene:27309 semapv:UnspecifiedMatching -OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:16986 semapv:UnspecifiedMatching -OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:LMAN2 semapv:UnspecifiedMatching -OMIM:609551 LMAN2 skos:exactMatch ncbigene:10960 semapv:UnspecifiedMatching -OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:19263 semapv:UnspecifiedMatching -OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:LMAN2L semapv:UnspecifiedMatching -OMIM:609552 LMAN2L skos:exactMatch ncbigene:81562 semapv:UnspecifiedMatching -OMIM:609553 retbindin skos:exactMatch hgnc.symbol:30310 semapv:UnspecifiedMatching -OMIM:609553 retbindin skos:exactMatch hgnc.symbol:RTBDN semapv:UnspecifiedMatching -OMIM:609553 retbindin skos:exactMatch ncbigene:83546 semapv:UnspecifiedMatching -OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:6175 semapv:UnspecifiedMatching -OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:ITM2C semapv:UnspecifiedMatching -OMIM:609554 ITM2C skos:exactMatch ncbigene:81618 semapv:UnspecifiedMatching -OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:15771 semapv:UnspecifiedMatching -OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:CPXM1 semapv:UnspecifiedMatching -OMIM:609555 CPXM1 skos:exactMatch ncbigene:56265 semapv:UnspecifiedMatching -OMIM:609556 ATP13A4 skos:exactMatch UMLS:C1540217 semapv:UnspecifiedMatching -OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:25422 semapv:UnspecifiedMatching -OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:ATP13A4 semapv:UnspecifiedMatching -OMIM:609556 ATP13A4 skos:exactMatch ncbigene:84239 semapv:UnspecifiedMatching -OMIM:609557 PREPL skos:exactMatch hgnc.symbol:30228 semapv:UnspecifiedMatching -OMIM:609557 PREPL skos:exactMatch hgnc.symbol:PREPL semapv:UnspecifiedMatching -OMIM:609557 PREPL skos:exactMatch ncbigene:9581 semapv:UnspecifiedMatching -OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:26276 semapv:UnspecifiedMatching -OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:CAMKMT semapv:UnspecifiedMatching -OMIM:609559 CAMKMT skos:exactMatch ncbigene:79823 semapv:UnspecifiedMatching -OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:15722 semapv:UnspecifiedMatching -OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:CPA5 semapv:UnspecifiedMatching -OMIM:609561 CPA5 skos:exactMatch ncbigene:93979 semapv:UnspecifiedMatching -OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:17245 semapv:UnspecifiedMatching -OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:CPA6 semapv:UnspecifiedMatching -OMIM:609562 CPA6 skos:exactMatch ncbigene:57094 semapv:UnspecifiedMatching -OMIM:609563 CPO skos:exactMatch hgnc.symbol:21011 semapv:UnspecifiedMatching -OMIM:609563 CPO skos:exactMatch hgnc.symbol:CPO semapv:UnspecifiedMatching -OMIM:609563 CPO skos:exactMatch ncbigene:130749 semapv:UnspecifiedMatching -OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:25895 semapv:UnspecifiedMatching -OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:PARP10 semapv:UnspecifiedMatching -OMIM:609564 PARP10 skos:exactMatch ncbigene:84875 semapv:UnspecifiedMatching -OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:27291 semapv:UnspecifiedMatching -OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:MCEMP1 semapv:UnspecifiedMatching -OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch ncbigene:199675 semapv:UnspecifiedMatching -OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:18590 semapv:UnspecifiedMatching -OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:PNPLA3 semapv:UnspecifiedMatching -OMIM:609567 PNPLA3 skos:exactMatch ncbigene:80339 semapv:UnspecifiedMatching -OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:18357 semapv:UnspecifiedMatching -OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:ARHGAP20 semapv:UnspecifiedMatching -OMIM:609568 ARHGAP20 skos:exactMatch ncbigene:57569 semapv:UnspecifiedMatching -OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:24750 semapv:UnspecifiedMatching -OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:ZNF699 semapv:UnspecifiedMatching -OMIM:609571 ZNF699 skos:exactMatch ncbigene:374879 semapv:UnspecifiedMatching -OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:18646 semapv:UnspecifiedMatching -OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:HSD17B12 semapv:UnspecifiedMatching -OMIM:609574 HSD17B12 skos:exactMatch ncbigene:51144 semapv:UnspecifiedMatching -OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:92 semapv:UnspecifiedMatching -OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:ACADVL semapv:UnspecifiedMatching -OMIM:609575 ACADVL skos:exactMatch ncbigene:37 semapv:UnspecifiedMatching -OMIM:609576 ACADL skos:exactMatch hgnc.symbol:88 semapv:UnspecifiedMatching -OMIM:609576 ACADL skos:exactMatch hgnc.symbol:ACADL semapv:UnspecifiedMatching -OMIM:609576 ACADL skos:exactMatch ncbigene:33 semapv:UnspecifiedMatching -OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:21024 semapv:UnspecifiedMatching -OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:CUL7 semapv:UnspecifiedMatching -OMIM:609577 CUL7 skos:exactMatch ncbigene:9820 semapv:UnspecifiedMatching -OMIM:609580 NINL skos:exactMatch hgnc.symbol:29163 semapv:UnspecifiedMatching -OMIM:609580 NINL skos:exactMatch hgnc.symbol:NINL semapv:UnspecifiedMatching -OMIM:609580 NINL skos:exactMatch ncbigene:22981 semapv:UnspecifiedMatching -OMIM:609582 MIR122A skos:exactMatch hgnc.symbol:31501 semapv:UnspecifiedMatching -OMIM:609582 MIR122A skos:exactMatch hgnc.symbol:MIR122 semapv:UnspecifiedMatching -OMIM:609582 MIR122A skos:exactMatch ncbigene:406906 semapv:UnspecifiedMatching -OMIM:609584 L2HGDH skos:exactMatch hgnc.symbol:20499 semapv:UnspecifiedMatching -OMIM:609584 L2HGDH skos:exactMatch hgnc.symbol:L2HGDH semapv:UnspecifiedMatching -OMIM:609584 L2HGDH skos:exactMatch ncbigene:79944 semapv:UnspecifiedMatching -OMIM:609585 CPLX3 skos:exactMatch hgnc.symbol:27652 semapv:UnspecifiedMatching -OMIM:609585 CPLX3 skos:exactMatch hgnc.symbol:CPLX3 semapv:UnspecifiedMatching -OMIM:609585 CPLX3 skos:exactMatch ncbigene:594855 semapv:UnspecifiedMatching -OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:24330 semapv:UnspecifiedMatching -OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:CPLX4 semapv:UnspecifiedMatching -OMIM:609586 CPLX4 skos:exactMatch ncbigene:339302 semapv:UnspecifiedMatching -OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:30297 semapv:UnspecifiedMatching -OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:RCC2 semapv:UnspecifiedMatching -OMIM:609587 RCC2 skos:exactMatch ncbigene:55920 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch UMLS:C1825372 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225178 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225507 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:20134 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:GLRX5 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch ncbigene:51218 semapv:UnspecifiedMatching -OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:29789 semapv:UnspecifiedMatching -OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:MTUS1 semapv:UnspecifiedMatching -OMIM:609589 MTUS1 skos:exactMatch ncbigene:57509 semapv:UnspecifiedMatching -OMIM:609590 QKI skos:exactMatch UMLS:C1427319 semapv:UnspecifiedMatching -OMIM:609590 QKI skos:exactMatch hgnc.symbol:21100 semapv:UnspecifiedMatching -OMIM:609590 QKI skos:exactMatch hgnc.symbol:QKI semapv:UnspecifiedMatching -OMIM:609590 QKI skos:exactMatch ncbigene:9444 semapv:UnspecifiedMatching -OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:10023 semapv:UnspecifiedMatching -OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:RIT1 semapv:UnspecifiedMatching -OMIM:609591 RIT1 skos:exactMatch ncbigene:6016 semapv:UnspecifiedMatching -OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:10017 semapv:UnspecifiedMatching -OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:RIT2 semapv:UnspecifiedMatching -OMIM:609592 RIT2 skos:exactMatch ncbigene:6014 semapv:UnspecifiedMatching -OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:21581 semapv:UnspecifiedMatching -OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:CARMIL1 semapv:UnspecifiedMatching -OMIM:609593 CARMIL1 skos:exactMatch ncbigene:55604 semapv:UnspecifiedMatching -OMIM:609594 VEPH1 skos:exactMatch hgnc.symbol:25735 semapv:UnspecifiedMatching -OMIM:609594 VEPH1 skos:exactMatch hgnc.symbol:VEPH1 semapv:UnspecifiedMatching -OMIM:609594 VEPH1 skos:exactMatch ncbigene:79674 semapv:UnspecifiedMatching -OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:21679 semapv:UnspecifiedMatching -OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:RSPO1 semapv:UnspecifiedMatching -OMIM:609595 RSPO1 skos:exactMatch ncbigene:284654 semapv:UnspecifiedMatching -OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:24656 semapv:UnspecifiedMatching -OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:EIF3K semapv:UnspecifiedMatching -OMIM:609596 EIF3K skos:exactMatch ncbigene:27335 semapv:UnspecifiedMatching -OMIM:609597 parietal foramina 2 skos:exactMatch Orphanet:60015 semapv:UnspecifiedMatching -OMIM:609597 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching -OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:15935 semapv:UnspecifiedMatching -OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:ZHX3 semapv:UnspecifiedMatching -OMIM:609598 ZHX3 skos:exactMatch ncbigene:23051 semapv:UnspecifiedMatching -OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:15819 semapv:UnspecifiedMatching -OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:ANKRD1 semapv:UnspecifiedMatching -OMIM:609599 ANKRD1 skos:exactMatch ncbigene:27063 semapv:UnspecifiedMatching -OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:18824 semapv:UnspecifiedMatching -OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:ZNF396 semapv:UnspecifiedMatching -OMIM:609600 ZNF396 skos:exactMatch ncbigene:252884 semapv:UnspecifiedMatching -OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:18818 semapv:UnspecifiedMatching -OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:ZNF397 semapv:UnspecifiedMatching -OMIM:609601 ZNF397 skos:exactMatch ncbigene:84307 semapv:UnspecifiedMatching -OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:18830 semapv:UnspecifiedMatching -OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:KLF17 semapv:UnspecifiedMatching -OMIM:609602 KLF17 skos:exactMatch ncbigene:128209 semapv:UnspecifiedMatching -OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:20458 semapv:UnspecifiedMatching -OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:CRYGN semapv:UnspecifiedMatching -OMIM:609603 CRYGN skos:exactMatch ncbigene:155051 semapv:UnspecifiedMatching -OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:13352 semapv:UnspecifiedMatching -OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:MAP1LC3B semapv:UnspecifiedMatching -OMIM:609604 MAP1LC3B skos:exactMatch ncbigene:81631 semapv:UnspecifiedMatching -OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:13353 semapv:UnspecifiedMatching -OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:MAP1LC3C semapv:UnspecifiedMatching -OMIM:609605 MAP1LC3C skos:exactMatch ncbigene:440738 semapv:UnspecifiedMatching -OMIM:609606 ATG3 skos:exactMatch UMLS:C1825493 semapv:UnspecifiedMatching -OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:20962 semapv:UnspecifiedMatching -OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:ATG3 semapv:UnspecifiedMatching -OMIM:609606 ATG3 skos:exactMatch ncbigene:64422 semapv:UnspecifiedMatching -OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:19688 semapv:UnspecifiedMatching -OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:NECTIN4 semapv:UnspecifiedMatching -OMIM:609607 NECTIN4 skos:exactMatch ncbigene:81607 semapv:UnspecifiedMatching -OMIM:609608 ATG12 skos:exactMatch UMLS:C1865043 semapv:UnspecifiedMatching -OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:588 semapv:UnspecifiedMatching -OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:ATG12 semapv:UnspecifiedMatching -OMIM:609608 ATG12 skos:exactMatch ncbigene:9140 semapv:UnspecifiedMatching -OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:16691 semapv:UnspecifiedMatching -OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:TUBGCP4 semapv:UnspecifiedMatching -OMIM:609610 TUBGCP4 skos:exactMatch ncbigene:27229 semapv:UnspecifiedMatching -OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:16673 semapv:UnspecifiedMatching -OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:ANP32E semapv:UnspecifiedMatching -OMIM:609611 ANP32E skos:exactMatch ncbigene:81611 semapv:UnspecifiedMatching -OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:29131 semapv:UnspecifiedMatching -OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:PLEKHM2 semapv:UnspecifiedMatching -OMIM:609613 PLEKHM2 skos:exactMatch ncbigene:23207 semapv:UnspecifiedMatching -OMIM:609614 REXO1 skos:exactMatch UMLS:C1826798 semapv:UnspecifiedMatching -OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:24616 semapv:UnspecifiedMatching -OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:REXO1 semapv:UnspecifiedMatching -OMIM:609614 REXO1 skos:exactMatch ncbigene:57455 semapv:UnspecifiedMatching -OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:23797 semapv:UnspecifiedMatching -OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:QTRT1 semapv:UnspecifiedMatching -OMIM:609615 QTRT1 skos:exactMatch ncbigene:81890 semapv:UnspecifiedMatching -OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:11013 semapv:UnspecifiedMatching -OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:SLC30A2 semapv:UnspecifiedMatching -OMIM:609617 SLC30A2 skos:exactMatch ncbigene:7780 semapv:UnspecifiedMatching -OMIM:609618 NRON skos:exactMatch hgnc.symbol:37079 semapv:UnspecifiedMatching -OMIM:609618 NRON skos:exactMatch hgnc.symbol:NRON semapv:UnspecifiedMatching -OMIM:609618 NRON skos:exactMatch ncbigene:641373 semapv:UnspecifiedMatching -OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:31973 semapv:UnspecifiedMatching -OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:GOLGA8B semapv:UnspecifiedMatching -OMIM:609619 GOLGA8B skos:exactMatch ncbigene:440270 semapv:UnspecifiedMatching -OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:24716 semapv:UnspecifiedMatching -OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:RASIP1 semapv:UnspecifiedMatching -OMIM:609623 RASIP1 skos:exactMatch ncbigene:54922 semapv:UnspecifiedMatching -OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:20668 semapv:UnspecifiedMatching -OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:MCCD1 semapv:UnspecifiedMatching -OMIM:609624 MCCD1 skos:exactMatch ncbigene:401250 semapv:UnspecifiedMatching -OMIM:609626 MDGA1 skos:exactMatch hgnc.symbol:19267 semapv:UnspecifiedMatching -OMIM:609626 MDGA1 skos:exactMatch hgnc.symbol:MDGA1 semapv:UnspecifiedMatching -OMIM:609626 MDGA1 skos:exactMatch ncbigene:266727 semapv:UnspecifiedMatching -OMIM:609627 TAS2R50 skos:exactMatch hgnc.symbol:18882 semapv:UnspecifiedMatching -OMIM:609627 TAS2R50 skos:exactMatch hgnc.symbol:TAS2R50 semapv:UnspecifiedMatching -OMIM:609627 TAS2R50 skos:exactMatch ncbigene:259296 semapv:UnspecifiedMatching -OMIM:609631 DDX58 skos:exactMatch UMLS:C1539233 semapv:UnspecifiedMatching -OMIM:609631 DDX58 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching -OMIM:609631 DDX58 skos:exactMatch hgnc.symbol:RIGI semapv:UnspecifiedMatching -OMIM:609631 DDX58 skos:exactMatch ncbigene:23586 semapv:UnspecifiedMatching -OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:28804 semapv:UnspecifiedMatching -OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:GDPD5 semapv:UnspecifiedMatching -OMIM:609632 GDPD5 skos:exactMatch ncbigene:81544 semapv:UnspecifiedMatching -OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching -OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching -OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:18602 semapv:UnspecifiedMatching -OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:TCF23 semapv:UnspecifiedMatching -OMIM:609635 TCF23 skos:exactMatch ncbigene:150921 semapv:UnspecifiedMatching -OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:4826 semapv:UnspecifiedMatching -OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:HBM semapv:UnspecifiedMatching -OMIM:609639 hemoglobin mu skos:exactMatch ncbigene:3042 semapv:UnspecifiedMatching -OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:24460 semapv:UnspecifiedMatching -OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:EIF3M semapv:UnspecifiedMatching -OMIM:609641 EIF3M skos:exactMatch ncbigene:10480 semapv:UnspecifiedMatching -OMIM:609642 t-cell antigen receptor, gamma subunit, alternate reading frame protein skos:exactMatch ncbigene:445347 semapv:UnspecifiedMatching -OMIM:609644 FANCM skos:exactMatch hgnc.symbol:23168 semapv:UnspecifiedMatching -OMIM:609644 FANCM skos:exactMatch hgnc.symbol:FANCM semapv:UnspecifiedMatching -OMIM:609644 FANCM skos:exactMatch ncbigene:57697 semapv:UnspecifiedMatching -OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:22943 semapv:UnspecifiedMatching -OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:NLRP4 semapv:UnspecifiedMatching -OMIM:609645 NLRP4 skos:exactMatch ncbigene:147945 semapv:UnspecifiedMatching -OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:22938 semapv:UnspecifiedMatching -OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:NLRP12 semapv:UnspecifiedMatching -OMIM:609648 NLRP12 skos:exactMatch ncbigene:91662 semapv:UnspecifiedMatching -OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:22944 semapv:UnspecifiedMatching -OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:NLRP6 semapv:UnspecifiedMatching -OMIM:609650 NLRP6 skos:exactMatch ncbigene:171389 semapv:UnspecifiedMatching -OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:18054 semapv:UnspecifiedMatching -OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:GPHA2 semapv:UnspecifiedMatching -OMIM:609651 GPHA2 skos:exactMatch ncbigene:170589 semapv:UnspecifiedMatching -OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:18055 semapv:UnspecifiedMatching -OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:GPHB5 semapv:UnspecifiedMatching -OMIM:609652 GPHB5 skos:exactMatch ncbigene:122876 semapv:UnspecifiedMatching -OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:28086 semapv:UnspecifiedMatching -OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:NDUFAF2 semapv:UnspecifiedMatching -OMIM:609653 NDUFAF2 skos:exactMatch ncbigene:91942 semapv:UnspecifiedMatching -OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:21269 semapv:UnspecifiedMatching -OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:NLRP5 semapv:UnspecifiedMatching -OMIM:609658 NLRP5 skos:exactMatch ncbigene:126206 semapv:UnspecifiedMatching -OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:22940 semapv:UnspecifiedMatching -OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:NLRP8 semapv:UnspecifiedMatching -OMIM:609659 NLRP8 skos:exactMatch ncbigene:126205 semapv:UnspecifiedMatching -OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:22937 semapv:UnspecifiedMatching -OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:NLRP13 semapv:UnspecifiedMatching -OMIM:609660 NLRP13 skos:exactMatch ncbigene:126204 semapv:UnspecifiedMatching -OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:22947 semapv:UnspecifiedMatching -OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:NLRP7 semapv:UnspecifiedMatching -OMIM:609661 NLRP7 skos:exactMatch ncbigene:199713 semapv:UnspecifiedMatching -OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:21464 semapv:UnspecifiedMatching -OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:NLRP10 semapv:UnspecifiedMatching -OMIM:609662 NLRP10 skos:exactMatch ncbigene:338322 semapv:UnspecifiedMatching -OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:22941 semapv:UnspecifiedMatching -OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:NLRP9 semapv:UnspecifiedMatching -OMIM:609663 NLRP9 skos:exactMatch ncbigene:338321 semapv:UnspecifiedMatching -OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:22945 semapv:UnspecifiedMatching -OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:NLRP11 semapv:UnspecifiedMatching -OMIM:609664 NLRP11 skos:exactMatch ncbigene:204801 semapv:UnspecifiedMatching -OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:22939 semapv:UnspecifiedMatching -OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:NLRP14 semapv:UnspecifiedMatching -OMIM:609665 NLRP14 skos:exactMatch ncbigene:338323 semapv:UnspecifiedMatching -OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:18182 semapv:UnspecifiedMatching -OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:TPCN1 semapv:UnspecifiedMatching -OMIM:609666 TPCN1 skos:exactMatch ncbigene:53373 semapv:UnspecifiedMatching -OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:15669 semapv:UnspecifiedMatching -OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:TAGAP semapv:UnspecifiedMatching -OMIM:609667 TAGAP skos:exactMatch ncbigene:117289 semapv:UnspecifiedMatching -OMIM:609668 PPTC7 skos:exactMatch UMLS:C1826668 semapv:UnspecifiedMatching -OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:30695 semapv:UnspecifiedMatching -OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:PPTC7 semapv:UnspecifiedMatching -OMIM:609668 PPTC7 skos:exactMatch ncbigene:160760 semapv:UnspecifiedMatching -OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:30696 semapv:UnspecifiedMatching -OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:WDR36 semapv:UnspecifiedMatching -OMIM:609669 WDR36 skos:exactMatch ncbigene:134430 semapv:UnspecifiedMatching -OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:24592 semapv:UnspecifiedMatching -OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:STEAP3 semapv:UnspecifiedMatching -OMIM:609671 STEAP3 skos:exactMatch ncbigene:55240 semapv:UnspecifiedMatching -OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:23196 semapv:UnspecifiedMatching -OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:EXOC6 semapv:UnspecifiedMatching -OMIM:609672 EXOC6 skos:exactMatch ncbigene:54536 semapv:UnspecifiedMatching -OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:30620 semapv:UnspecifiedMatching -OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:PDGFD semapv:UnspecifiedMatching -OMIM:609673 PDGFD skos:exactMatch ncbigene:80310 semapv:UnspecifiedMatching -OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:24645 semapv:UnspecifiedMatching -OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:ESCO1 semapv:UnspecifiedMatching -OMIM:609674 ESCO1 skos:exactMatch ncbigene:114799 semapv:UnspecifiedMatching -OMIM:609675 SOSTDC1 skos:exactMatch UMLS:C1427738 semapv:UnspecifiedMatching -OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:21748 semapv:UnspecifiedMatching -OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:SOSTDC1 semapv:UnspecifiedMatching -OMIM:609675 SOSTDC1 skos:exactMatch ncbigene:25928 semapv:UnspecifiedMatching -OMIM:609676 MAVS skos:exactMatch hgnc.symbol:29233 semapv:UnspecifiedMatching -OMIM:609676 MAVS skos:exactMatch hgnc.symbol:MAVS semapv:UnspecifiedMatching -OMIM:609676 MAVS skos:exactMatch ncbigene:57506 semapv:UnspecifiedMatching -OMIM:609677 OS9 skos:exactMatch hgnc.symbol:16994 semapv:UnspecifiedMatching -OMIM:609677 OS9 skos:exactMatch hgnc.symbol:OS9 semapv:UnspecifiedMatching -OMIM:609677 OS9 skos:exactMatch ncbigene:10956 semapv:UnspecifiedMatching -OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:20297 semapv:UnspecifiedMatching -OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:SLITRK1 semapv:UnspecifiedMatching -OMIM:609678 SLITRK1 skos:exactMatch ncbigene:114798 semapv:UnspecifiedMatching -OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:23501 semapv:UnspecifiedMatching -OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:SLITRK3 semapv:UnspecifiedMatching -OMIM:609679 SLITRK3 skos:exactMatch ncbigene:22865 semapv:UnspecifiedMatching -OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:20295 semapv:UnspecifiedMatching -OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:SLITRK5 semapv:UnspecifiedMatching -OMIM:609680 SLITRK5 skos:exactMatch ncbigene:26050 semapv:UnspecifiedMatching -OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:23503 semapv:UnspecifiedMatching -OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:SLITRK6 semapv:UnspecifiedMatching -OMIM:609681 SLITRK6 skos:exactMatch ncbigene:84189 semapv:UnspecifiedMatching -OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:17660 semapv:UnspecifiedMatching -OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:DCLRE1A semapv:UnspecifiedMatching -OMIM:609682 DCLRE1A skos:exactMatch ncbigene:9937 semapv:UnspecifiedMatching -OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:17641 semapv:UnspecifiedMatching -OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:DCLRE1B semapv:UnspecifiedMatching -OMIM:609683 DCLRE1B skos:exactMatch ncbigene:64858 semapv:UnspecifiedMatching -OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:13634 semapv:UnspecifiedMatching -OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:MAL2 semapv:UnspecifiedMatching -OMIM:609684 MAL2 skos:exactMatch ncbigene:114569 semapv:UnspecifiedMatching -OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:30777 semapv:UnspecifiedMatching -OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:CDCA7L semapv:UnspecifiedMatching -OMIM:609685 CDCA7L skos:exactMatch ncbigene:55536 semapv:UnspecifiedMatching -OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:18355 semapv:UnspecifiedMatching -OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:CLYBL semapv:UnspecifiedMatching -OMIM:609686 CLYBL skos:exactMatch ncbigene:171425 semapv:UnspecifiedMatching -OMIM:609687 MIR196A2 skos:exactMatch hgnc.symbol:31568 semapv:UnspecifiedMatching -OMIM:609687 MIR196A2 skos:exactMatch hgnc.symbol:MIR196A2 semapv:UnspecifiedMatching -OMIM:609687 MIR196A2 skos:exactMatch ncbigene:406973 semapv:UnspecifiedMatching -OMIM:609688 MIR196B skos:exactMatch hgnc.symbol:31790 semapv:UnspecifiedMatching -OMIM:609688 MIR196B skos:exactMatch hgnc.symbol:MIR196B semapv:UnspecifiedMatching -OMIM:609688 MIR196B skos:exactMatch ncbigene:442920 semapv:UnspecifiedMatching -OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:1859 semapv:UnspecifiedMatching -OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:CEP250 semapv:UnspecifiedMatching -OMIM:609689 CEP250 skos:exactMatch ncbigene:11190 semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch UMLS:C1425085 semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch hgnc.symbol:17800 semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch hgnc.symbol:FARSB semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch ncbigene:10056 semapv:UnspecifiedMatching -OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:26178 semapv:UnspecifiedMatching -OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:FHOD3 semapv:UnspecifiedMatching -OMIM:609691 FHOD3 skos:exactMatch ncbigene:80206 semapv:UnspecifiedMatching -OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:30923 semapv:UnspecifiedMatching -OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:WIPF2 semapv:UnspecifiedMatching -OMIM:609692 WIPF2 skos:exactMatch ncbigene:147179 semapv:UnspecifiedMatching -OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:13939 semapv:UnspecifiedMatching -OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:VWA7 semapv:UnspecifiedMatching -OMIM:609693 VWA7 skos:exactMatch ncbigene:80737 semapv:UnspecifiedMatching -OMIM:609694 GMIP skos:exactMatch hgnc.symbol:24852 semapv:UnspecifiedMatching -OMIM:609694 GMIP skos:exactMatch hgnc.symbol:GMIP semapv:UnspecifiedMatching -OMIM:609694 GMIP skos:exactMatch ncbigene:51291 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch UMLS:C1415696 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch hgnc.symbol:5147 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch hgnc.symbol:HPD semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch ncbigene:3242 semapv:UnspecifiedMatching -OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:15550 semapv:UnspecifiedMatching -OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:ARID4B semapv:UnspecifiedMatching -OMIM:609696 ARID4B skos:exactMatch ncbigene:51742 semapv:UnspecifiedMatching -OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:29813 semapv:UnspecifiedMatching -OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:SAP130 semapv:UnspecifiedMatching -OMIM:609697 SAP130 skos:exactMatch ncbigene:79595 semapv:UnspecifiedMatching -OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch Orphanet:171706 semapv:UnspecifiedMatching -OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch UMLS:C1864761 semapv:UnspecifiedMatching -OMIM:609699 MGLL skos:exactMatch hgnc.symbol:17038 semapv:UnspecifiedMatching -OMIM:609699 MGLL skos:exactMatch hgnc.symbol:MGLL semapv:UnspecifiedMatching -OMIM:609699 MGLL skos:exactMatch ncbigene:11343 semapv:UnspecifiedMatching -OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:17676 semapv:UnspecifiedMatching -OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:RABGEF1 semapv:UnspecifiedMatching -OMIM:609700 RABGEF1 skos:exactMatch ncbigene:27342 semapv:UnspecifiedMatching -OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:7632 semapv:UnspecifiedMatching -OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:NAGLU semapv:UnspecifiedMatching -OMIM:609701 NAGLU skos:exactMatch ncbigene:4669 semapv:UnspecifiedMatching -OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:24929 semapv:UnspecifiedMatching -OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:PSMG2 semapv:UnspecifiedMatching -OMIM:609702 PSMG2 skos:exactMatch ncbigene:56984 semapv:UnspecifiedMatching -OMIM:609703 MIR15A skos:exactMatch UMLS:C1537709 semapv:UnspecifiedMatching -OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:31543 semapv:UnspecifiedMatching -OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:MIR15A semapv:UnspecifiedMatching -OMIM:609703 MIR15A skos:exactMatch ncbigene:406948 semapv:UnspecifiedMatching -OMIM:609704 MIR16-1 skos:exactMatch UMLS:C1537711 semapv:UnspecifiedMatching -OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:31545 semapv:UnspecifiedMatching -OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:MIR16-1 semapv:UnspecifiedMatching -OMIM:609704 MIR16-1 skos:exactMatch ncbigene:406950 semapv:UnspecifiedMatching -OMIM:609705 MIR24-1 skos:exactMatch hgnc.symbol:31607 semapv:UnspecifiedMatching -OMIM:609705 MIR24-1 skos:exactMatch hgnc.symbol:MIR24-1 semapv:UnspecifiedMatching -OMIM:609705 MIR24-1 skos:exactMatch ncbigene:407012 semapv:UnspecifiedMatching -OMIM:609707 DUS2L skos:exactMatch hgnc.symbol:26014 semapv:UnspecifiedMatching -OMIM:609707 DUS2L skos:exactMatch hgnc.symbol:DUS2 semapv:UnspecifiedMatching -OMIM:609707 DUS2L skos:exactMatch ncbigene:54920 semapv:UnspecifiedMatching -OMIM:609708 LPL skos:exactMatch hgnc.symbol:6677 semapv:UnspecifiedMatching -OMIM:609708 LPL skos:exactMatch hgnc.symbol:LPL semapv:UnspecifiedMatching -OMIM:609708 LPL skos:exactMatch ncbigene:4023 semapv:UnspecifiedMatching -OMIM:609709 GYLTL1B skos:exactMatch hgnc.symbol:16522 semapv:UnspecifiedMatching -OMIM:609709 GYLTL1B skos:exactMatch hgnc.symbol:LARGE2 semapv:UnspecifiedMatching -OMIM:609709 GYLTL1B skos:exactMatch ncbigene:120071 semapv:UnspecifiedMatching -OMIM:609710 DCANP1 skos:exactMatch hgnc.symbol:24459 semapv:UnspecifiedMatching -OMIM:609710 DCANP1 skos:exactMatch hgnc.symbol:DCANP1 semapv:UnspecifiedMatching -OMIM:609710 DCANP1 skos:exactMatch ncbigene:140947 semapv:UnspecifiedMatching -OMIM:609711 UQCR11 skos:exactMatch hgnc.symbol:30862 semapv:UnspecifiedMatching -OMIM:609711 UQCR11 skos:exactMatch hgnc.symbol:UQCR11 semapv:UnspecifiedMatching -OMIM:609711 UQCR11 skos:exactMatch ncbigene:10975 semapv:UnspecifiedMatching -OMIM:609712 PKLR skos:exactMatch hgnc.symbol:9020 semapv:UnspecifiedMatching -OMIM:609712 PKLR skos:exactMatch hgnc.symbol:PKLR semapv:UnspecifiedMatching -OMIM:609712 PKLR skos:exactMatch ncbigene:5313 semapv:UnspecifiedMatching -OMIM:609713 HUS1B skos:exactMatch hgnc.symbol:16485 semapv:UnspecifiedMatching -OMIM:609713 HUS1B skos:exactMatch hgnc.symbol:HUS1B semapv:UnspecifiedMatching -OMIM:609713 HUS1B skos:exactMatch ncbigene:135458 semapv:UnspecifiedMatching -OMIM:609714 TREML1 skos:exactMatch hgnc.symbol:20434 semapv:UnspecifiedMatching -OMIM:609714 TREML1 skos:exactMatch hgnc.symbol:TREML1 semapv:UnspecifiedMatching -OMIM:609714 TREML1 skos:exactMatch ncbigene:340205 semapv:UnspecifiedMatching -OMIM:609715 TREML2 skos:exactMatch hgnc.symbol:21092 semapv:UnspecifiedMatching -OMIM:609715 TREML2 skos:exactMatch hgnc.symbol:TREML2 semapv:UnspecifiedMatching -OMIM:609715 TREML2 skos:exactMatch ncbigene:79865 semapv:UnspecifiedMatching -OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:30806 semapv:UnspecifiedMatching -OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:TREML3P semapv:UnspecifiedMatching -OMIM:609716 TREML3 skos:exactMatch ncbigene:340206 semapv:UnspecifiedMatching -OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:24853 semapv:UnspecifiedMatching -OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:PCAT4 semapv:UnspecifiedMatching -OMIM:609717 PCAT4 skos:exactMatch ncbigene:118425 semapv:UnspecifiedMatching -OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:6588 semapv:UnspecifiedMatching -OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:LHFPL2 semapv:UnspecifiedMatching -OMIM:609718 LHFPL2 skos:exactMatch ncbigene:10184 semapv:UnspecifiedMatching -OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:6589 semapv:UnspecifiedMatching -OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:LHFPL3 semapv:UnspecifiedMatching -OMIM:609719 LHFPL3 skos:exactMatch ncbigene:375612 semapv:UnspecifiedMatching -OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:18688 semapv:UnspecifiedMatching -OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:CRB2 semapv:UnspecifiedMatching -OMIM:609720 CRB2 skos:exactMatch ncbigene:286204 semapv:UnspecifiedMatching -OMIM:609721 PKD1L1 skos:exactMatch hgnc.symbol:18053 semapv:UnspecifiedMatching -OMIM:609721 PKD1L1 skos:exactMatch hgnc.symbol:PKD1L1 semapv:UnspecifiedMatching -OMIM:609721 PKD1L1 skos:exactMatch ncbigene:168507 semapv:UnspecifiedMatching -OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:13992 semapv:UnspecifiedMatching -OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:PDLIM2 semapv:UnspecifiedMatching -OMIM:609722 PDLIM2 skos:exactMatch ncbigene:64236 semapv:UnspecifiedMatching -OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:18326 semapv:UnspecifiedMatching -OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:YPEL2 semapv:UnspecifiedMatching -OMIM:609723 YPEL2 skos:exactMatch ncbigene:388403 semapv:UnspecifiedMatching -OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:18327 semapv:UnspecifiedMatching -OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:YPEL3 semapv:UnspecifiedMatching -OMIM:609724 YPEL3 skos:exactMatch ncbigene:83719 semapv:UnspecifiedMatching -OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:18328 semapv:UnspecifiedMatching -OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:YPEL4 semapv:UnspecifiedMatching -OMIM:609725 YPEL4 skos:exactMatch ncbigene:219539 semapv:UnspecifiedMatching -OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:18329 semapv:UnspecifiedMatching -OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:YPEL5 semapv:UnspecifiedMatching -OMIM:609726 YPEL5 skos:exactMatch ncbigene:51646 semapv:UnspecifiedMatching -OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching -OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching -OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:25133 semapv:UnspecifiedMatching -OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:MARS2 semapv:UnspecifiedMatching -OMIM:609728 MARS2 skos:exactMatch ncbigene:92935 semapv:UnspecifiedMatching -OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:17704 semapv:UnspecifiedMatching -OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:PDZRN3 semapv:UnspecifiedMatching -OMIM:609729 PDZRN3 skos:exactMatch ncbigene:23024 semapv:UnspecifiedMatching -OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:30552 semapv:UnspecifiedMatching -OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:PDZRN4 semapv:UnspecifiedMatching -OMIM:609730 PDZRN4 skos:exactMatch ncbigene:29951 semapv:UnspecifiedMatching -OMIM:609731 CST11 skos:exactMatch hgnc.symbol:15959 semapv:UnspecifiedMatching -OMIM:609731 CST11 skos:exactMatch hgnc.symbol:CST11 semapv:UnspecifiedMatching -OMIM:609731 CST11 skos:exactMatch ncbigene:140880 semapv:UnspecifiedMatching -OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:6657 semapv:UnspecifiedMatching -OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:LNX1 semapv:UnspecifiedMatching -OMIM:609732 LNX1 skos:exactMatch ncbigene:84708 semapv:UnspecifiedMatching -OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:20421 semapv:UnspecifiedMatching -OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:LNX2 semapv:UnspecifiedMatching -OMIM:609733 LNX2 skos:exactMatch ncbigene:222484 semapv:UnspecifiedMatching -OMIM:609735 RFFL skos:exactMatch hgnc.symbol:24821 semapv:UnspecifiedMatching -OMIM:609735 RFFL skos:exactMatch hgnc.symbol:RFFL semapv:UnspecifiedMatching -OMIM:609735 RFFL skos:exactMatch ncbigene:117584 semapv:UnspecifiedMatching -OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:25523 semapv:UnspecifiedMatching -OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:CCDC88A semapv:UnspecifiedMatching -OMIM:609736 CCDC88A skos:exactMatch ncbigene:55704 semapv:UnspecifiedMatching -OMIM:609737 CRB3 skos:exactMatch UMLS:C1426800 semapv:UnspecifiedMatching -OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:20237 semapv:UnspecifiedMatching -OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:CRB3 semapv:UnspecifiedMatching -OMIM:609737 CRB3 skos:exactMatch ncbigene:92359 semapv:UnspecifiedMatching -OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:18132 semapv:UnspecifiedMatching -OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:IGSF9 semapv:UnspecifiedMatching -OMIM:609738 IGSF9 skos:exactMatch ncbigene:57549 semapv:UnspecifiedMatching -OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:28741 semapv:UnspecifiedMatching -OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:ILDR1 semapv:UnspecifiedMatching -OMIM:609739 ILDR1 skos:exactMatch ncbigene:286676 semapv:UnspecifiedMatching -OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:24566 semapv:UnspecifiedMatching -OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:PHF19 semapv:UnspecifiedMatching -OMIM:609740 PHF19 skos:exactMatch ncbigene:26147 semapv:UnspecifiedMatching -OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:19094 semapv:UnspecifiedMatching -OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:IL4I1 semapv:UnspecifiedMatching -OMIM:609742 IL4I1 skos:exactMatch ncbigene:259307 semapv:UnspecifiedMatching -OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:17601 semapv:UnspecifiedMatching -OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:CADM3 semapv:UnspecifiedMatching -OMIM:609743 CADM3 skos:exactMatch ncbigene:57863 semapv:UnspecifiedMatching -OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:30825 semapv:UnspecifiedMatching -OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:CADM4 semapv:UnspecifiedMatching -OMIM:609744 CADM4 skos:exactMatch ncbigene:199731 semapv:UnspecifiedMatching -OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:26099 semapv:UnspecifiedMatching -OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:ARHGAP10 semapv:UnspecifiedMatching -OMIM:609746 ARHGAP10 skos:exactMatch ncbigene:79658 semapv:UnspecifiedMatching -OMIM:609747 ABRA skos:exactMatch hgnc.symbol:30655 semapv:UnspecifiedMatching -OMIM:609747 ABRA skos:exactMatch hgnc.symbol:ABRA semapv:UnspecifiedMatching -OMIM:609747 ABRA skos:exactMatch ncbigene:137735 semapv:UnspecifiedMatching -OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:28221 semapv:UnspecifiedMatching -OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:UBL7 semapv:UnspecifiedMatching -OMIM:609748 UBL7 skos:exactMatch ncbigene:84993 semapv:UnspecifiedMatching -OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:17729 semapv:UnspecifiedMatching -OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:UXS1 semapv:UnspecifiedMatching -OMIM:609749 UXS1 skos:exactMatch ncbigene:80146 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch UMLS:C1412128 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:119 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:ACOX1 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch ncbigene:51 semapv:UnspecifiedMatching -OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:21081 semapv:UnspecifiedMatching -OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:NCOA7 semapv:UnspecifiedMatching -OMIM:609752 NCOA7 skos:exactMatch ncbigene:135112 semapv:UnspecifiedMatching -OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:15781 semapv:UnspecifiedMatching -OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:CHRFAM7A semapv:UnspecifiedMatching -OMIM:609756 CHRFAM7A skos:exactMatch ncbigene:89832 semapv:UnspecifiedMatching -OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch Orphanet:96121 semapv:UnspecifiedMatching -OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch UMLS:C1857844 semapv:UnspecifiedMatching -OMIM:609758 NKAIN2 skos:exactMatch hgnc.symbol:16443 semapv:UnspecifiedMatching -OMIM:609758 NKAIN2 skos:exactMatch hgnc.symbol:NKAIN2 semapv:UnspecifiedMatching -OMIM:609758 NKAIN2 skos:exactMatch ncbigene:154215 semapv:UnspecifiedMatching -OMIM:609759 PRDM7 skos:exactMatch hgnc.symbol:9351 semapv:UnspecifiedMatching -OMIM:609759 PRDM7 skos:exactMatch hgnc.symbol:PRDM7 semapv:UnspecifiedMatching -OMIM:609759 PRDM7 skos:exactMatch ncbigene:11105 semapv:UnspecifiedMatching -OMIM:609760 PRDM9 skos:exactMatch hgnc.symbol:13994 semapv:UnspecifiedMatching -OMIM:609760 PRDM9 skos:exactMatch hgnc.symbol:PRDM9 semapv:UnspecifiedMatching -OMIM:609760 PRDM9 skos:exactMatch ncbigene:56979 semapv:UnspecifiedMatching -OMIM:609761 TRIOBP skos:exactMatch hgnc.symbol:17009 semapv:UnspecifiedMatching -OMIM:609761 TRIOBP skos:exactMatch hgnc.symbol:TRIOBP semapv:UnspecifiedMatching -OMIM:609761 TRIOBP skos:exactMatch ncbigene:11078 semapv:UnspecifiedMatching -OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:20914 semapv:UnspecifiedMatching -OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:BLOC1S3 semapv:UnspecifiedMatching -OMIM:609762 BLOC1S3 skos:exactMatch ncbigene:388552 semapv:UnspecifiedMatching -OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:30031 semapv:UnspecifiedMatching -OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:PI4K2A semapv:UnspecifiedMatching -OMIM:609763 PI4K2A skos:exactMatch ncbigene:55361 semapv:UnspecifiedMatching -OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:22978 semapv:UnspecifiedMatching -OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:KDM4A semapv:UnspecifiedMatching -OMIM:609764 KDM4A skos:exactMatch ncbigene:9682 semapv:UnspecifiedMatching -OMIM:609765 KDM4B skos:exactMatch UMLS:C1428797 semapv:UnspecifiedMatching -OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:29136 semapv:UnspecifiedMatching -OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:KDM4B semapv:UnspecifiedMatching -OMIM:609765 KDM4B skos:exactMatch ncbigene:23030 semapv:UnspecifiedMatching -OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:25498 semapv:UnspecifiedMatching -OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:KDM4D semapv:UnspecifiedMatching -OMIM:609766 KDM4D skos:exactMatch ncbigene:55693 semapv:UnspecifiedMatching -OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:23472 semapv:UnspecifiedMatching -OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:SLC25A28 semapv:UnspecifiedMatching -OMIM:609767 SLC25A28 skos:exactMatch ncbigene:81894 semapv:UnspecifiedMatching -OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:20984 semapv:UnspecifiedMatching -OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:BLOC1S2 semapv:UnspecifiedMatching -OMIM:609768 BLOC1S2 skos:exactMatch ncbigene:282991 semapv:UnspecifiedMatching -OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:29958 semapv:UnspecifiedMatching -OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:SDR9C7 semapv:UnspecifiedMatching -OMIM:609769 SDR9C7 skos:exactMatch ncbigene:121214 semapv:UnspecifiedMatching -OMIM:609770 JAML skos:exactMatch hgnc.symbol:19084 semapv:UnspecifiedMatching -OMIM:609770 JAML skos:exactMatch hgnc.symbol:JAML semapv:UnspecifiedMatching -OMIM:609770 JAML skos:exactMatch ncbigene:120425 semapv:UnspecifiedMatching -OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:12506 semapv:UnspecifiedMatching -OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:UBN1 semapv:UnspecifiedMatching -OMIM:609771 UBN1 skos:exactMatch ncbigene:29855 semapv:UnspecifiedMatching -OMIM:609772 CTTNBP2 skos:exactMatch hgnc.symbol:15679 semapv:UnspecifiedMatching -OMIM:609772 CTTNBP2 skos:exactMatch hgnc.symbol:CTTNBP2 semapv:UnspecifiedMatching -OMIM:609772 CTTNBP2 skos:exactMatch ncbigene:83992 semapv:UnspecifiedMatching -OMIM:609773 EID2 skos:exactMatch hgnc.symbol:28292 semapv:UnspecifiedMatching -OMIM:609773 EID2 skos:exactMatch hgnc.symbol:EID2 semapv:UnspecifiedMatching -OMIM:609773 EID2 skos:exactMatch ncbigene:163126 semapv:UnspecifiedMatching -OMIM:609774 API5 skos:exactMatch hgnc.symbol:594 semapv:UnspecifiedMatching -OMIM:609774 API5 skos:exactMatch hgnc.symbol:API5 semapv:UnspecifiedMatching -OMIM:609774 API5 skos:exactMatch ncbigene:8539 semapv:UnspecifiedMatching -OMIM:609775 YIPF3 skos:exactMatch hgnc.symbol:21023 semapv:UnspecifiedMatching -OMIM:609775 YIPF3 skos:exactMatch hgnc.symbol:YIPF3 semapv:UnspecifiedMatching -OMIM:609775 YIPF3 skos:exactMatch ncbigene:25844 semapv:UnspecifiedMatching -OMIM:609776 PRAP1 skos:exactMatch hgnc.symbol:23304 semapv:UnspecifiedMatching -OMIM:609776 PRAP1 skos:exactMatch hgnc.symbol:PRAP1 semapv:UnspecifiedMatching -OMIM:609776 PRAP1 skos:exactMatch ncbigene:118471 semapv:UnspecifiedMatching -OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:14301 semapv:UnspecifiedMatching -OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:XIRP1 semapv:UnspecifiedMatching -OMIM:609777 XIRP1 skos:exactMatch ncbigene:165904 semapv:UnspecifiedMatching -OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:14303 semapv:UnspecifiedMatching -OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:XIRP2 semapv:UnspecifiedMatching -OMIM:609778 XIRP2 skos:exactMatch ncbigene:129446 semapv:UnspecifiedMatching -OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:18593 semapv:UnspecifiedMatching -OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:NEK11 semapv:UnspecifiedMatching -OMIM:609779 NEK11 skos:exactMatch ncbigene:79858 semapv:UnspecifiedMatching -OMIM:609780 CPVL skos:exactMatch hgnc.symbol:14399 semapv:UnspecifiedMatching -OMIM:609780 CPVL skos:exactMatch hgnc.symbol:CPVL semapv:UnspecifiedMatching -OMIM:609780 CPVL skos:exactMatch ncbigene:54504 semapv:UnspecifiedMatching -OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:21449 semapv:UnspecifiedMatching -OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:ITIH5 semapv:UnspecifiedMatching -OMIM:609783 ITIH5 skos:exactMatch ncbigene:80760 semapv:UnspecifiedMatching -OMIM:609784 UBP1 skos:exactMatch hgnc.symbol:12507 semapv:UnspecifiedMatching -OMIM:609784 UBP1 skos:exactMatch hgnc.symbol:UBP1 semapv:UnspecifiedMatching -OMIM:609784 UBP1 skos:exactMatch ncbigene:7342 semapv:UnspecifiedMatching -OMIM:609785 TFCP2L1 skos:exactMatch hgnc.symbol:17925 semapv:UnspecifiedMatching -OMIM:609785 TFCP2L1 skos:exactMatch hgnc.symbol:TFCP2L1 semapv:UnspecifiedMatching -OMIM:609785 TFCP2L1 skos:exactMatch ncbigene:29842 semapv:UnspecifiedMatching -OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:17923 semapv:UnspecifiedMatching -OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:GRHL1 semapv:UnspecifiedMatching -OMIM:609786 GRHL1 skos:exactMatch ncbigene:29841 semapv:UnspecifiedMatching -OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:12461 semapv:UnspecifiedMatching -OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:UBAP1 semapv:UnspecifiedMatching -OMIM:609787 UBAP1 skos:exactMatch ncbigene:51271 semapv:UnspecifiedMatching -OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:18868 semapv:UnspecifiedMatching -OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:XRRA1 semapv:UnspecifiedMatching -OMIM:609788 XRRA1 skos:exactMatch ncbigene:143570 semapv:UnspecifiedMatching -OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:19941 semapv:UnspecifiedMatching -OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:AQP12A semapv:UnspecifiedMatching -OMIM:609789 AQP12A skos:exactMatch ncbigene:375318 semapv:UnspecifiedMatching -OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:21205 semapv:UnspecifiedMatching -OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:LINGO1 semapv:UnspecifiedMatching -OMIM:609791 LINGO1 skos:exactMatch ncbigene:84894 semapv:UnspecifiedMatching -OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:21206 semapv:UnspecifiedMatching -OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:LINGO3 semapv:UnspecifiedMatching -OMIM:609792 LINGO3 skos:exactMatch ncbigene:645191 semapv:UnspecifiedMatching -OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:21207 semapv:UnspecifiedMatching -OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:LINGO2 semapv:UnspecifiedMatching -OMIM:609793 LINGO2 skos:exactMatch ncbigene:158038 semapv:UnspecifiedMatching -OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:31814 semapv:UnspecifiedMatching -OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:LINGO4 semapv:UnspecifiedMatching -OMIM:609794 LINGO4 skos:exactMatch ncbigene:339398 semapv:UnspecifiedMatching -OMIM:609795 QRFP skos:exactMatch hgnc.symbol:29982 semapv:UnspecifiedMatching -OMIM:609795 QRFP skos:exactMatch hgnc.symbol:QRFP semapv:UnspecifiedMatching -OMIM:609795 QRFP skos:exactMatch ncbigene:347148 semapv:UnspecifiedMatching -OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:17208 semapv:UnspecifiedMatching -OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:BICD2 semapv:UnspecifiedMatching -OMIM:609797 BICD2 skos:exactMatch ncbigene:23299 semapv:UnspecifiedMatching -OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:18591 semapv:UnspecifiedMatching -OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:NEK9 semapv:UnspecifiedMatching -OMIM:609798 NEK9 skos:exactMatch ncbigene:91754 semapv:UnspecifiedMatching -OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:13387 semapv:UnspecifiedMatching -OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:NEK8 semapv:UnspecifiedMatching -OMIM:609799 NEK8 skos:exactMatch ncbigene:284086 semapv:UnspecifiedMatching -OMIM:609801 CD300E skos:exactMatch hgnc.symbol:28874 semapv:UnspecifiedMatching -OMIM:609801 CD300E skos:exactMatch hgnc.symbol:CD300E semapv:UnspecifiedMatching -OMIM:609801 CD300E skos:exactMatch ncbigene:342510 semapv:UnspecifiedMatching -OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:20611 semapv:UnspecifiedMatching -OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:SLC24A5 semapv:UnspecifiedMatching -OMIM:609802 SLC24A5 skos:exactMatch ncbigene:283652 semapv:UnspecifiedMatching -OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:26350 semapv:UnspecifiedMatching -OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:ANKAR semapv:UnspecifiedMatching -OMIM:609803 ANKAR skos:exactMatch ncbigene:150709 semapv:UnspecifiedMatching -OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:16053 semapv:UnspecifiedMatching -OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:CFAP52 semapv:UnspecifiedMatching -OMIM:609804 CFAP52 skos:exactMatch ncbigene:146845 semapv:UnspecifiedMatching -OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:30614 semapv:UnspecifiedMatching -OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:SPATA19 semapv:UnspecifiedMatching -OMIM:609805 SPATA19 skos:exactMatch ncbigene:219938 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch UMLS:C1415597 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch UMLS:C1867969 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch hgnc.symbol:4982 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch hgnc.symbol:HMBS semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch ncbigene:3145 semapv:UnspecifiedMatching -OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:29883 semapv:UnspecifiedMatching -OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:CD300LF semapv:UnspecifiedMatching -OMIM:609807 CD300LF skos:exactMatch ncbigene:146722 semapv:UnspecifiedMatching -OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:26016 semapv:UnspecifiedMatching -OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:LIME1 semapv:UnspecifiedMatching -OMIM:609809 LIME1 skos:exactMatch ncbigene:54923 semapv:UnspecifiedMatching -OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:14005 semapv:UnspecifiedMatching -OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:PEG10 semapv:UnspecifiedMatching -OMIM:609810 PEG10 skos:exactMatch ncbigene:23089 semapv:UnspecifiedMatching -OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:24381 semapv:UnspecifiedMatching -OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:COX7B2 semapv:UnspecifiedMatching -OMIM:609811 COX7B2 skos:exactMatch ncbigene:170712 semapv:UnspecifiedMatching -OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:20681 semapv:UnspecifiedMatching -OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:NBEAL1 semapv:UnspecifiedMatching -OMIM:609816 NBEAL1 skos:exactMatch ncbigene:65065 semapv:UnspecifiedMatching -OMIM:609818 USP10 skos:exactMatch hgnc.symbol:12608 semapv:UnspecifiedMatching -OMIM:609818 USP10 skos:exactMatch hgnc.symbol:USP10 semapv:UnspecifiedMatching -OMIM:609818 USP10 skos:exactMatch ncbigene:9100 semapv:UnspecifiedMatching -OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:30591 semapv:UnspecifiedMatching -OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:PRAC1 semapv:UnspecifiedMatching -OMIM:609819 PRAC1 skos:exactMatch ncbigene:84366 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch UMLS:C1539674 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:25245 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:HORMAD1 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch ncbigene:84072 semapv:UnspecifiedMatching -OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:25223 semapv:UnspecifiedMatching -OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:COQ2 semapv:UnspecifiedMatching -OMIM:609825 COQ2 skos:exactMatch ncbigene:27235 semapv:UnspecifiedMatching -OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:20305 semapv:UnspecifiedMatching -OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:SLC34A3 semapv:UnspecifiedMatching -OMIM:609826 SLC34A3 skos:exactMatch ncbigene:142680 semapv:UnspecifiedMatching -OMIM:609827 PELI3 skos:exactMatch UMLS:C1826566 semapv:UnspecifiedMatching -OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:30010 semapv:UnspecifiedMatching -OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:PELI3 semapv:UnspecifiedMatching -OMIM:609827 PELI3 skos:exactMatch ncbigene:246330 semapv:UnspecifiedMatching -OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:13745 semapv:UnspecifiedMatching -OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:FSD1 semapv:UnspecifiedMatching -OMIM:609828 FSD1 skos:exactMatch ncbigene:79187 semapv:UnspecifiedMatching -OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:13753 semapv:UnspecifiedMatching -OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:FSD1L semapv:UnspecifiedMatching -OMIM:609829 FSD1NL skos:exactMatch ncbigene:83856 semapv:UnspecifiedMatching -OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:24525 semapv:UnspecifiedMatching -OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:MMACHC semapv:UnspecifiedMatching -OMIM:609831 MMACHC skos:exactMatch ncbigene:25974 semapv:UnspecifiedMatching -OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:25588 semapv:UnspecifiedMatching -OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:SLC47A1 semapv:UnspecifiedMatching -OMIM:609832 SLC47A1 skos:exactMatch ncbigene:55244 semapv:UnspecifiedMatching -OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:26439 semapv:UnspecifiedMatching -OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:SLC47A2 semapv:UnspecifiedMatching -OMIM:609833 SLC47A2 skos:exactMatch ncbigene:146802 semapv:UnspecifiedMatching -OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:10762 semapv:UnspecifiedMatching -OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:SETMAR semapv:UnspecifiedMatching -OMIM:609834 SETMAR skos:exactMatch ncbigene:6419 semapv:UnspecifiedMatching -OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:19677 semapv:UnspecifiedMatching -OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:MYCBPAP semapv:UnspecifiedMatching -OMIM:609835 MYCBPAP skos:exactMatch ncbigene:84073 semapv:UnspecifiedMatching -OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:24474 semapv:UnspecifiedMatching -OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:PCBD2 semapv:UnspecifiedMatching -OMIM:609836 PCBD2 skos:exactMatch ncbigene:84105 semapv:UnspecifiedMatching -OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:33020 semapv:UnspecifiedMatching -OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:SNORD115-1 semapv:UnspecifiedMatching -OMIM:609837 SNORD115-1 skos:exactMatch ncbigene:338433 semapv:UnspecifiedMatching -OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:10976 semapv:UnspecifiedMatching -OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:SLC24A2 semapv:UnspecifiedMatching -OMIM:609838 SLC24A2 skos:exactMatch ncbigene:25769 semapv:UnspecifiedMatching -OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:10977 semapv:UnspecifiedMatching -OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:SLC24A3 semapv:UnspecifiedMatching -OMIM:609839 SLC24A3 skos:exactMatch ncbigene:57419 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch UMLS:C1420149 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch UMLS:C2673866 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch UMLS:C4014578 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:10978 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:SLC24A4 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch ncbigene:123041 semapv:UnspecifiedMatching -OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:26175 semapv:UnspecifiedMatching -OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:SLC8B1 semapv:UnspecifiedMatching -OMIM:609841 SLC8B1 skos:exactMatch ncbigene:80024 semapv:UnspecifiedMatching -OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:26114 semapv:UnspecifiedMatching -OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:EDC3 semapv:UnspecifiedMatching -OMIM:609842 EDC3 skos:exactMatch ncbigene:80153 semapv:UnspecifiedMatching -OMIM:609843 DCP1B skos:exactMatch UMLS:C1539226 semapv:UnspecifiedMatching -OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:24451 semapv:UnspecifiedMatching -OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:DCP1B semapv:UnspecifiedMatching -OMIM:609843 DCP1B skos:exactMatch ncbigene:196513 semapv:UnspecifiedMatching -OMIM:609844 DCP2 skos:exactMatch UMLS:C1539227 semapv:UnspecifiedMatching -OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:24452 semapv:UnspecifiedMatching -OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:DCP2 semapv:UnspecifiedMatching -OMIM:609844 DCP2 skos:exactMatch ncbigene:167227 semapv:UnspecifiedMatching -OMIM:609845 SI skos:exactMatch hgnc.symbol:10856 semapv:UnspecifiedMatching -OMIM:609845 SI skos:exactMatch hgnc.symbol:SI semapv:UnspecifiedMatching -OMIM:609845 SI skos:exactMatch ncbigene:6476 semapv:UnspecifiedMatching -OMIM:609846 REG4 skos:exactMatch hgnc.symbol:22977 semapv:UnspecifiedMatching -OMIM:609846 REG4 skos:exactMatch hgnc.symbol:REG4 semapv:UnspecifiedMatching -OMIM:609846 REG4 skos:exactMatch ncbigene:83998 semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch UMLS:C1835953 semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:27106 semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:NOTUM semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch ncbigene:147111 semapv:UnspecifiedMatching -OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:21302 semapv:UnspecifiedMatching -OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:KCTD11 semapv:UnspecifiedMatching -OMIM:609848 KCTD11 skos:exactMatch ncbigene:147040 semapv:UnspecifiedMatching -OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:2253 semapv:UnspecifiedMatching -OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:CORO1B semapv:UnspecifiedMatching -OMIM:609849 CORO1B skos:exactMatch ncbigene:57175 semapv:UnspecifiedMatching -OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:11578 semapv:UnspecifiedMatching -OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:TBC1D1 semapv:UnspecifiedMatching -OMIM:609850 TBC1D1 skos:exactMatch ncbigene:23216 semapv:UnspecifiedMatching -OMIM:609851 IPMK skos:exactMatch hgnc.symbol:20739 semapv:UnspecifiedMatching -OMIM:609851 IPMK skos:exactMatch hgnc.symbol:IPMK semapv:UnspecifiedMatching -OMIM:609851 IPMK skos:exactMatch ncbigene:253430 semapv:UnspecifiedMatching -OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:13363 semapv:UnspecifiedMatching -OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:MIXL1 semapv:UnspecifiedMatching -OMIM:609852 MIXL1 skos:exactMatch ncbigene:83881 semapv:UnspecifiedMatching -OMIM:609853 PPCS skos:exactMatch hgnc.symbol:25686 semapv:UnspecifiedMatching -OMIM:609853 PPCS skos:exactMatch hgnc.symbol:PPCS semapv:UnspecifiedMatching -OMIM:609853 PPCS skos:exactMatch ncbigene:79717 semapv:UnspecifiedMatching -OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:28107 semapv:UnspecifiedMatching -OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:PPCDC semapv:UnspecifiedMatching -OMIM:609854 PPCDC skos:exactMatch ncbigene:60490 semapv:UnspecifiedMatching -OMIM:609855 COASY skos:exactMatch hgnc.symbol:29932 semapv:UnspecifiedMatching -OMIM:609855 COASY skos:exactMatch hgnc.symbol:COASY semapv:UnspecifiedMatching -OMIM:609855 COASY skos:exactMatch ncbigene:80347 semapv:UnspecifiedMatching -OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:29935 semapv:UnspecifiedMatching -OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:SPATA16 semapv:UnspecifiedMatching -OMIM:609856 SPATA16 skos:exactMatch ncbigene:83893 semapv:UnspecifiedMatching -OMIM:609857 DMWD skos:exactMatch hgnc.symbol:2936 semapv:UnspecifiedMatching -OMIM:609857 DMWD skos:exactMatch hgnc.symbol:DMWD semapv:UnspecifiedMatching -OMIM:609857 DMWD skos:exactMatch ncbigene:1762 semapv:UnspecifiedMatching -OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:24649 semapv:UnspecifiedMatching -OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:ETNK1 semapv:UnspecifiedMatching -OMIM:609858 ETNK1 skos:exactMatch ncbigene:55500 semapv:UnspecifiedMatching -OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:25575 semapv:UnspecifiedMatching -OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:ETNK2 semapv:UnspecifiedMatching -OMIM:609859 ETNK2 skos:exactMatch ncbigene:55224 semapv:UnspecifiedMatching -OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:18295 semapv:UnspecifiedMatching -OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:DAD1P1 semapv:UnspecifiedMatching -OMIM:609860 dad1-related gene skos:exactMatch ncbigene:56286 semapv:UnspecifiedMatching -OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:26430 semapv:UnspecifiedMatching -OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:IKBIP semapv:UnspecifiedMatching -OMIM:609861 IKBIP skos:exactMatch ncbigene:121457 semapv:UnspecifiedMatching -OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:16517 semapv:UnspecifiedMatching -OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:TMPRSS6 semapv:UnspecifiedMatching -OMIM:609862 TMPRSS6 skos:exactMatch ncbigene:164656 semapv:UnspecifiedMatching -OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:26113 semapv:UnspecifiedMatching -OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:TCTN1 semapv:UnspecifiedMatching -OMIM:609863 TCTN1 skos:exactMatch ncbigene:79600 semapv:UnspecifiedMatching -OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:25452 semapv:UnspecifiedMatching -OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:PIP4P2 semapv:UnspecifiedMatching -OMIM:609864 PIP4P2 skos:exactMatch ncbigene:55529 semapv:UnspecifiedMatching -OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:19299 semapv:UnspecifiedMatching -OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:PIP4P1 semapv:UnspecifiedMatching -OMIM:609865 PIP4P1 skos:exactMatch ncbigene:90809 semapv:UnspecifiedMatching -OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:19164 semapv:UnspecifiedMatching -OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:STARD13 semapv:UnspecifiedMatching -OMIM:609866 STARD13 skos:exactMatch ncbigene:90627 semapv:UnspecifiedMatching -OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:28110 semapv:UnspecifiedMatching -OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:UBLCP1 semapv:UnspecifiedMatching -OMIM:609867 UBLCP1 skos:exactMatch ncbigene:134510 semapv:UnspecifiedMatching -OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:20423 semapv:UnspecifiedMatching -OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:SPATA7 semapv:UnspecifiedMatching -OMIM:609868 SPATA7 skos:exactMatch ncbigene:55812 semapv:UnspecifiedMatching -OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:23221 semapv:UnspecifiedMatching -OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:SPATA12 semapv:UnspecifiedMatching -OMIM:609869 SPATA12 skos:exactMatch ncbigene:353324 semapv:UnspecifiedMatching -OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:23725 semapv:UnspecifiedMatching -OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:ARHGAP21 semapv:UnspecifiedMatching -OMIM:609870 ARHGAP21 skos:exactMatch ncbigene:57584 semapv:UnspecifiedMatching -OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:18026 semapv:UnspecifiedMatching -OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:TBC1D2 semapv:UnspecifiedMatching -OMIM:609871 TBC1D2 skos:exactMatch ncbigene:55357 semapv:UnspecifiedMatching -OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:16115 semapv:UnspecifiedMatching -OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:WFDC12 semapv:UnspecifiedMatching -OMIM:609872 WFDC12 skos:exactMatch ncbigene:128488 semapv:UnspecifiedMatching -OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:18259 semapv:UnspecifiedMatching -OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:ITLN1 semapv:UnspecifiedMatching -OMIM:609873 ITLN1 skos:exactMatch ncbigene:55600 semapv:UnspecifiedMatching -OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:20599 semapv:UnspecifiedMatching -OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:ITLN2 semapv:UnspecifiedMatching -OMIM:609874 ITLN2 skos:exactMatch ncbigene:142683 semapv:UnspecifiedMatching -OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:13907 semapv:UnspecifiedMatching -OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:ATOH7 semapv:UnspecifiedMatching -OMIM:609875 ATOH7 skos:exactMatch ncbigene:220202 semapv:UnspecifiedMatching -OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:18246 semapv:UnspecifiedMatching -OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:CRYL1 semapv:UnspecifiedMatching -OMIM:609877 CRYL1 skos:exactMatch ncbigene:51084 semapv:UnspecifiedMatching -OMIM:609878 MED9 skos:exactMatch hgnc.symbol:25487 semapv:UnspecifiedMatching -OMIM:609878 MED9 skos:exactMatch hgnc.symbol:MED9 semapv:UnspecifiedMatching -OMIM:609878 MED9 skos:exactMatch ncbigene:55090 semapv:UnspecifiedMatching -OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:17333 semapv:UnspecifiedMatching -OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:SPATA4 semapv:UnspecifiedMatching -OMIM:609879 SPATA4 skos:exactMatch ncbigene:132851 semapv:UnspecifiedMatching -OMIM:609880 KAT7 skos:exactMatch UMLS:C1424687 semapv:UnspecifiedMatching -OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:17016 semapv:UnspecifiedMatching -OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:KAT7 semapv:UnspecifiedMatching -OMIM:609880 KAT7 skos:exactMatch ncbigene:11143 semapv:UnspecifiedMatching -OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:23208 semapv:UnspecifiedMatching -OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:POLR2J2 semapv:UnspecifiedMatching -OMIM:609881 POLR2J2 skos:exactMatch ncbigene:246721 semapv:UnspecifiedMatching -OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:29535 semapv:UnspecifiedMatching -OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:MTF2 semapv:UnspecifiedMatching -OMIM:609882 MTF2 skos:exactMatch ncbigene:22823 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch UMLS:C1417186 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:7121 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:MKS1 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch ncbigene:54903 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C1823331 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C1846357 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C1853153 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C1865794 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017203 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017204 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:28396 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:TMEM67 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch ncbigene:91147 semapv:UnspecifiedMatching -OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:23113 semapv:UnspecifiedMatching -OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:ELL3 semapv:UnspecifiedMatching -OMIM:609885 ELL3 skos:exactMatch ncbigene:80237 semapv:UnspecifiedMatching -OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching -OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch UMLS:C1835932 semapv:UnspecifiedMatching -OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:30313 semapv:UnspecifiedMatching -OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:UBR4 semapv:UnspecifiedMatching -OMIM:609890 UBR4 skos:exactMatch ncbigene:23352 semapv:UnspecifiedMatching -OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:21390 semapv:UnspecifiedMatching -OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:RIPPLY2 semapv:UnspecifiedMatching -OMIM:609891 RIPPLY2 skos:exactMatch ncbigene:134701 semapv:UnspecifiedMatching -OMIM:609892 RIPPLY3 skos:exactMatch UMLS:C1414167 semapv:UnspecifiedMatching -OMIM:609892 RIPPLY3 skos:exactMatch hgnc.symbol:3047 semapv:UnspecifiedMatching -OMIM:609892 RIPPLY3 skos:exactMatch hgnc.symbol:RIPPLY3 semapv:UnspecifiedMatching -OMIM:609892 RIPPLY3 skos:exactMatch ncbigene:53820 semapv:UnspecifiedMatching -OMIM:609894 UNC13A skos:exactMatch UMLS:C1427949 semapv:UnspecifiedMatching -OMIM:609894 UNC13A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:23150 semapv:UnspecifiedMatching -OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:UNC13A semapv:UnspecifiedMatching -OMIM:609894 UNC13A skos:exactMatch ncbigene:23025 semapv:UnspecifiedMatching -OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:26002 semapv:UnspecifiedMatching -OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:CASZ1 semapv:UnspecifiedMatching -OMIM:609895 CASZ1 skos:exactMatch ncbigene:54897 semapv:UnspecifiedMatching -OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:31837 semapv:UnspecifiedMatching -OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:EIF4E3 semapv:UnspecifiedMatching -OMIM:609896 EIF4E3 skos:exactMatch ncbigene:317649 semapv:UnspecifiedMatching -OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:13944 semapv:UnspecifiedMatching -OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:EGFL8 semapv:UnspecifiedMatching -OMIM:609897 EGFL8 skos:exactMatch ncbigene:80864 semapv:UnspecifiedMatching -OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:17550 semapv:UnspecifiedMatching -OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:KREMEN1 semapv:UnspecifiedMatching -OMIM:609898 KREMEN1 skos:exactMatch ncbigene:83999 semapv:UnspecifiedMatching -OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:18797 semapv:UnspecifiedMatching -OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:KREMEN2 semapv:UnspecifiedMatching -OMIM:609899 KREMEN2 skos:exactMatch ncbigene:79412 semapv:UnspecifiedMatching -OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:17354 semapv:UnspecifiedMatching -OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:APOBEC3D semapv:UnspecifiedMatching -OMIM:609900 APOBEC3D skos:exactMatch ncbigene:140564 semapv:UnspecifiedMatching -OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:26795 semapv:UnspecifiedMatching -OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:ANKS4B semapv:UnspecifiedMatching -OMIM:609901 ANKS4B skos:exactMatch ncbigene:257629 semapv:UnspecifiedMatching -OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:18730 semapv:UnspecifiedMatching -OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:H2BC1 semapv:UnspecifiedMatching -OMIM:609904 HIST1H2BA skos:exactMatch ncbigene:255626 semapv:UnspecifiedMatching -OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:15754 semapv:UnspecifiedMatching -OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:MYL9 semapv:UnspecifiedMatching -OMIM:609905 MYL9 skos:exactMatch ncbigene:10398 semapv:UnspecifiedMatching -OMIM:609906 EFS skos:exactMatch UMLS:C1424622 semapv:UnspecifiedMatching -OMIM:609906 EFS skos:exactMatch hgnc.symbol:16898 semapv:UnspecifiedMatching -OMIM:609906 EFS skos:exactMatch hgnc.symbol:EFS semapv:UnspecifiedMatching -OMIM:609906 EFS skos:exactMatch ncbigene:10278 semapv:UnspecifiedMatching -OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:10726 semapv:UnspecifiedMatching -OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:SEMA3D semapv:UnspecifiedMatching -OMIM:609907 SEMA3D skos:exactMatch ncbigene:223117 semapv:UnspecifiedMatching -OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:32152 semapv:UnspecifiedMatching -OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:APOBEC4 semapv:UnspecifiedMatching -OMIM:609908 APOBEC4 skos:exactMatch ncbigene:403314 semapv:UnspecifiedMatching -OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:24010 semapv:UnspecifiedMatching -OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:CFAP91 semapv:UnspecifiedMatching -OMIM:609910 CFAP91 skos:exactMatch ncbigene:89876 semapv:UnspecifiedMatching -OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:20115 semapv:UnspecifiedMatching -OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:SLC25A47 semapv:UnspecifiedMatching -OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch ncbigene:283600 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch UMLS:C1425187 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:17933 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:KAT8 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch ncbigene:84148 semapv:UnspecifiedMatching -OMIM:609913 retinitis pigmentosa 32 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:609913 retinitis pigmentosa 32 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching -OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:19940 semapv:UnspecifiedMatching -OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:AQP11 semapv:UnspecifiedMatching -OMIM:609914 AQP11 skos:exactMatch ncbigene:282679 semapv:UnspecifiedMatching -OMIM:609916 AZI2 skos:exactMatch UMLS:C1538310 semapv:UnspecifiedMatching -OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:24002 semapv:UnspecifiedMatching -OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:AZI2 semapv:UnspecifiedMatching -OMIM:609916 AZI2 skos:exactMatch ncbigene:64343 semapv:UnspecifiedMatching -OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:17276 semapv:UnspecifiedMatching -OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:ERI3 semapv:UnspecifiedMatching -OMIM:609917 PRNPIP skos:exactMatch ncbigene:79033 semapv:UnspecifiedMatching -OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:13251 semapv:UnspecifiedMatching -OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:CDH22 semapv:UnspecifiedMatching -OMIM:609920 CDH22 skos:exactMatch ncbigene:64405 semapv:UnspecifiedMatching -OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:14553 semapv:UnspecifiedMatching -OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:LRP10 semapv:UnspecifiedMatching -OMIM:609921 LRP10 skos:exactMatch ncbigene:26020 semapv:UnspecifiedMatching -OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:29144 semapv:UnspecifiedMatching -OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:EHBP1 semapv:UnspecifiedMatching -OMIM:609922 EHBP1 skos:exactMatch ncbigene:23301 semapv:UnspecifiedMatching -OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:23028 semapv:UnspecifiedMatching -OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:DPEP2 semapv:UnspecifiedMatching -OMIM:609925 DPEP2 skos:exactMatch ncbigene:64174 semapv:UnspecifiedMatching -OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:23029 semapv:UnspecifiedMatching -OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:DPEP3 semapv:UnspecifiedMatching -OMIM:609926 DPEP3 skos:exactMatch ncbigene:64180 semapv:UnspecifiedMatching -OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:24928 semapv:UnspecifiedMatching -OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:VPS37A semapv:UnspecifiedMatching -OMIM:609927 VPS37A skos:exactMatch ncbigene:137492 semapv:UnspecifiedMatching -OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:15906 semapv:UnspecifiedMatching -OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:MYH7B semapv:UnspecifiedMatching -OMIM:609928 MYH7B skos:exactMatch ncbigene:57644 semapv:UnspecifiedMatching -OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:31073 semapv:UnspecifiedMatching -OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:MYH15 semapv:UnspecifiedMatching -OMIM:609929 MYH15 skos:exactMatch ncbigene:22989 semapv:UnspecifiedMatching -OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:29823 semapv:UnspecifiedMatching -OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:MYL6B semapv:UnspecifiedMatching -OMIM:609930 MYL6B skos:exactMatch ncbigene:140465 semapv:UnspecifiedMatching -OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:7587 semapv:UnspecifiedMatching -OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:MYL6 semapv:UnspecifiedMatching -OMIM:609931 MYL6 skos:exactMatch ncbigene:4637 semapv:UnspecifiedMatching -OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:16441 semapv:UnspecifiedMatching -OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:SPACA4 semapv:UnspecifiedMatching -OMIM:609932 SPACA4 skos:exactMatch ncbigene:171169 semapv:UnspecifiedMatching -OMIM:609933 REG3G skos:exactMatch hgnc.symbol:29595 semapv:UnspecifiedMatching -OMIM:609933 REG3G skos:exactMatch hgnc.symbol:REG3G semapv:UnspecifiedMatching -OMIM:609933 REG3G skos:exactMatch ncbigene:130120 semapv:UnspecifiedMatching -OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:19090 semapv:UnspecifiedMatching -OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:EBF2 semapv:UnspecifiedMatching -OMIM:609934 EBF2 skos:exactMatch ncbigene:64641 semapv:UnspecifiedMatching -OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:29278 semapv:UnspecifiedMatching -OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:EBF4 semapv:UnspecifiedMatching -OMIM:609935 EBF4 skos:exactMatch ncbigene:57593 semapv:UnspecifiedMatching -OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:11243 semapv:UnspecifiedMatching -OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:SPIN1 semapv:UnspecifiedMatching -OMIM:609936 SPIN1 skos:exactMatch ncbigene:10927 semapv:UnspecifiedMatching -OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:14628 semapv:UnspecifiedMatching -OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:CDCA7 semapv:UnspecifiedMatching -OMIM:609937 CDCA7 skos:exactMatch ncbigene:83879 semapv:UnspecifiedMatching -OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:29849 semapv:UnspecifiedMatching -OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:CADM2 semapv:UnspecifiedMatching -OMIM:609938 CADM2 skos:exactMatch ncbigene:253559 semapv:UnspecifiedMatching -OMIM:609942 noonan syndrome 3 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching -OMIM:609942 noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching -OMIM:609947 PRORP skos:exactMatch hgnc.symbol:19958 semapv:UnspecifiedMatching -OMIM:609947 PRORP skos:exactMatch hgnc.symbol:PRORP semapv:UnspecifiedMatching -OMIM:609947 PRORP skos:exactMatch ncbigene:9692 semapv:UnspecifiedMatching -OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:21698 semapv:UnspecifiedMatching -OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:RNF216 semapv:UnspecifiedMatching -OMIM:609948 RNF216 skos:exactMatch ncbigene:54476 semapv:UnspecifiedMatching -OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:4527 semapv:UnspecifiedMatching -OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:C5AR2 semapv:UnspecifiedMatching -OMIM:609949 C5AR2 skos:exactMatch ncbigene:27202 semapv:UnspecifiedMatching -OMIM:609950 RAVER1 skos:exactMatch UMLS:C1826769 semapv:UnspecifiedMatching -OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:30296 semapv:UnspecifiedMatching -OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:RAVER1 semapv:UnspecifiedMatching -OMIM:609950 RAVER1 skos:exactMatch ncbigene:125950 semapv:UnspecifiedMatching -OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:11955 semapv:UnspecifiedMatching -OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:ZNF384 semapv:UnspecifiedMatching -OMIM:609951 ZNF384 skos:exactMatch ncbigene:171017 semapv:UnspecifiedMatching -OMIM:609953 RAVER2 skos:exactMatch UMLS:C1826770 semapv:UnspecifiedMatching -OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:25577 semapv:UnspecifiedMatching -OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:RAVER2 semapv:UnspecifiedMatching -OMIM:609953 RAVER2 skos:exactMatch ncbigene:55225 semapv:UnspecifiedMatching -OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:30268 semapv:UnspecifiedMatching -OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:RAB37 semapv:UnspecifiedMatching -OMIM:609956 RAB37 skos:exactMatch ncbigene:326624 semapv:UnspecifiedMatching -OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:20785 semapv:UnspecifiedMatching -OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:PPM1J semapv:UnspecifiedMatching -OMIM:609957 PPM1J skos:exactMatch ncbigene:333926 semapv:UnspecifiedMatching -OMIM:609959 MYADM skos:exactMatch hgnc.symbol:7544 semapv:UnspecifiedMatching -OMIM:609959 MYADM skos:exactMatch hgnc.symbol:MYADM semapv:UnspecifiedMatching -OMIM:609959 MYADM skos:exactMatch ncbigene:91663 semapv:UnspecifiedMatching -OMIM:609960 PUM3 skos:exactMatch UMLS:C1428887 semapv:UnspecifiedMatching -OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:29676 semapv:UnspecifiedMatching -OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:PUM3 semapv:UnspecifiedMatching -OMIM:609960 PUM3 skos:exactMatch ncbigene:9933 semapv:UnspecifiedMatching -OMIM:609961 HMHB1 skos:exactMatch UMLS:C1825517 semapv:UnspecifiedMatching -OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:29677 semapv:UnspecifiedMatching -OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:HMHB1 semapv:UnspecifiedMatching -OMIM:609961 HMHB1 skos:exactMatch ncbigene:57824 semapv:UnspecifiedMatching -OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:14555 semapv:UnspecifiedMatching -OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:CLEC4E semapv:UnspecifiedMatching -OMIM:609962 CLEC4E skos:exactMatch ncbigene:26253 semapv:UnspecifiedMatching -OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:24293 semapv:UnspecifiedMatching -OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:CHSY3 semapv:UnspecifiedMatching -OMIM:609963 CHSY3 skos:exactMatch ncbigene:337876 semapv:UnspecifiedMatching -OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:14554 semapv:UnspecifiedMatching -OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:CLEC4D semapv:UnspecifiedMatching -OMIM:609964 CLEC4D skos:exactMatch ncbigene:338339 semapv:UnspecifiedMatching -OMIM:609966 GGN skos:exactMatch hgnc.symbol:18869 semapv:UnspecifiedMatching -OMIM:609966 GGN skos:exactMatch hgnc.symbol:GGN semapv:UnspecifiedMatching -OMIM:609966 GGN skos:exactMatch ncbigene:199720 semapv:UnspecifiedMatching -OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:24130 semapv:UnspecifiedMatching -OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:NIBAN3 semapv:UnspecifiedMatching -OMIM:609967 b-cell novel protein 1 skos:exactMatch ncbigene:199786 semapv:UnspecifiedMatching -OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:24950 semapv:UnspecifiedMatching -OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:SBSN semapv:UnspecifiedMatching -OMIM:609969 suprabasin skos:exactMatch ncbigene:374897 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch UMLS:C1539666 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch hgnc.symbol:16005 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch hgnc.symbol:HES2 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch ncbigene:54626 semapv:UnspecifiedMatching -OMIM:609971 HES3 skos:exactMatch UMLS:C1825461 semapv:UnspecifiedMatching -OMIM:609971 HES3 skos:exactMatch hgnc.symbol:26226 semapv:UnspecifiedMatching -OMIM:609971 HES3 skos:exactMatch hgnc.symbol:HES3 semapv:UnspecifiedMatching -OMIM:609971 HES3 skos:exactMatch ncbigene:390992 semapv:UnspecifiedMatching -OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:18431 semapv:UnspecifiedMatching -OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:ACOT2 semapv:UnspecifiedMatching -OMIM:609972 ACOT2 skos:exactMatch ncbigene:10965 semapv:UnspecifiedMatching -OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:19183 semapv:UnspecifiedMatching -OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:HCN3 semapv:UnspecifiedMatching -OMIM:609973 HCN3 skos:exactMatch ncbigene:57657 semapv:UnspecifiedMatching -OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:1768 semapv:UnspecifiedMatching -OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:CDH9 semapv:UnspecifiedMatching -OMIM:609974 CDH9 skos:exactMatch ncbigene:1007 semapv:UnspecifiedMatching -OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:15825 semapv:UnspecifiedMatching -OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:HIF3A semapv:UnspecifiedMatching -OMIM:609976 HIF3A skos:exactMatch ncbigene:64344 semapv:UnspecifiedMatching -OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:14629 semapv:UnspecifiedMatching -OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:CDCA8 semapv:UnspecifiedMatching -OMIM:609977 CDCA8 skos:exactMatch ncbigene:55143 semapv:UnspecifiedMatching -OMIM:609978 CADPS2 skos:exactMatch hgnc.symbol:16018 semapv:UnspecifiedMatching -OMIM:609978 CADPS2 skos:exactMatch hgnc.symbol:CADPS2 semapv:UnspecifiedMatching -OMIM:609978 CADPS2 skos:exactMatch ncbigene:93664 semapv:UnspecifiedMatching -OMIM:609979 VGLL2 skos:exactMatch hgnc.symbol:20232 semapv:UnspecifiedMatching -OMIM:609979 VGLL2 skos:exactMatch hgnc.symbol:VGLL2 semapv:UnspecifiedMatching -OMIM:609979 VGLL2 skos:exactMatch ncbigene:245806 semapv:UnspecifiedMatching -OMIM:609980 VGLL3 skos:exactMatch hgnc.symbol:24327 semapv:UnspecifiedMatching -OMIM:609980 VGLL3 skos:exactMatch hgnc.symbol:VGLL3 semapv:UnspecifiedMatching -OMIM:609980 VGLL3 skos:exactMatch ncbigene:389136 semapv:UnspecifiedMatching -OMIM:609982 VPS4A skos:exactMatch hgnc.symbol:13488 semapv:UnspecifiedMatching -OMIM:609982 VPS4A skos:exactMatch hgnc.symbol:VPS4A semapv:UnspecifiedMatching -OMIM:609982 VPS4A skos:exactMatch ncbigene:27183 semapv:UnspecifiedMatching -OMIM:609983 VPS4B skos:exactMatch hgnc.symbol:10895 semapv:UnspecifiedMatching -OMIM:609983 VPS4B skos:exactMatch hgnc.symbol:VPS4B semapv:UnspecifiedMatching -OMIM:609983 VPS4B skos:exactMatch ncbigene:9525 semapv:UnspecifiedMatching -OMIM:609984 ZWILCH skos:exactMatch UMLS:C1824085 semapv:UnspecifiedMatching -OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:25468 semapv:UnspecifiedMatching -OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:ZWILCH semapv:UnspecifiedMatching -OMIM:609984 ZWILCH skos:exactMatch ncbigene:55055 semapv:UnspecifiedMatching -OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:16394 semapv:UnspecifiedMatching -OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:CARD6 semapv:UnspecifiedMatching -OMIM:609986 CARD6 skos:exactMatch ncbigene:84674 semapv:UnspecifiedMatching -OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:30653 semapv:UnspecifiedMatching -OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:STRA8 semapv:UnspecifiedMatching -OMIM:609987 STRA8 skos:exactMatch ncbigene:346673 semapv:UnspecifiedMatching -OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:28883 semapv:UnspecifiedMatching -OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:PPA2 semapv:UnspecifiedMatching -OMIM:609988 PPA2 skos:exactMatch ncbigene:27068 semapv:UnspecifiedMatching -OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:21184 semapv:UnspecifiedMatching -OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:FNDC1 semapv:UnspecifiedMatching -OMIM:609991 FNDC1 skos:exactMatch ncbigene:84624 semapv:UnspecifiedMatching -OMIM:609992 POP5 skos:exactMatch UMLS:C1425038 semapv:UnspecifiedMatching -OMIM:609992 POP5 skos:exactMatch hgnc.symbol:17689 semapv:UnspecifiedMatching -OMIM:609992 POP5 skos:exactMatch hgnc.symbol:POP5 semapv:UnspecifiedMatching -OMIM:609992 POP5 skos:exactMatch ncbigene:51367 semapv:UnspecifiedMatching -OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:22442 semapv:UnspecifiedMatching -OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:COL28A1 semapv:UnspecifiedMatching -OMIM:609996 COL28A1 skos:exactMatch ncbigene:340267 semapv:UnspecifiedMatching -OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:18344 semapv:UnspecifiedMatching -OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:HINT2 semapv:UnspecifiedMatching -OMIM:609997 HINT2 skos:exactMatch ncbigene:84681 semapv:UnspecifiedMatching -OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:18468 semapv:UnspecifiedMatching -OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:HINT3 semapv:UnspecifiedMatching -OMIM:609998 HINT3 skos:exactMatch ncbigene:135114 semapv:UnspecifiedMatching -OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:32388 semapv:UnspecifiedMatching -OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:SYNDIG1L semapv:UnspecifiedMatching -OMIM:609999 SYNDIG1L skos:exactMatch ncbigene:646658 semapv:UnspecifiedMatching -OMIM:610000 CEP55 skos:exactMatch hgnc.symbol:1161 semapv:UnspecifiedMatching -OMIM:610000 CEP55 skos:exactMatch hgnc.symbol:CEP55 semapv:UnspecifiedMatching -OMIM:610000 CEP55 skos:exactMatch ncbigene:55165 semapv:UnspecifiedMatching -OMIM:610002 COL21A1 skos:exactMatch hgnc.symbol:17025 semapv:UnspecifiedMatching -OMIM:610002 COL21A1 skos:exactMatch hgnc.symbol:COL21A1 semapv:UnspecifiedMatching -OMIM:610002 COL21A1 skos:exactMatch ncbigene:81578 semapv:UnspecifiedMatching -OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch Orphanet:1947 semapv:UnspecifiedMatching -OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching -OMIM:610004 COL25A1 skos:exactMatch hgnc.symbol:18603 semapv:UnspecifiedMatching -OMIM:610004 COL25A1 skos:exactMatch hgnc.symbol:COL25A1 semapv:UnspecifiedMatching -OMIM:610004 COL25A1 skos:exactMatch ncbigene:84570 semapv:UnspecifiedMatching -OMIM:610005 TNIK skos:exactMatch hgnc.symbol:30765 semapv:UnspecifiedMatching -OMIM:610005 TNIK skos:exactMatch hgnc.symbol:TNIK semapv:UnspecifiedMatching -OMIM:610005 TNIK skos:exactMatch ncbigene:23043 semapv:UnspecifiedMatching -OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch Orphanet:79157 semapv:UnspecifiedMatching -OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching -OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:18268 semapv:UnspecifiedMatching -OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:LMBR1L semapv:UnspecifiedMatching -OMIM:610007 LMBR1L skos:exactMatch ncbigene:55716 semapv:UnspecifiedMatching -OMIM:610008 ARSG skos:exactMatch hgnc.symbol:24102 semapv:UnspecifiedMatching -OMIM:610008 ARSG skos:exactMatch hgnc.symbol:ARSG semapv:UnspecifiedMatching -OMIM:610008 ARSG skos:exactMatch ncbigene:22901 semapv:UnspecifiedMatching -OMIM:610009 ARSI skos:exactMatch hgnc.symbol:32521 semapv:UnspecifiedMatching -OMIM:610009 ARSI skos:exactMatch hgnc.symbol:ARSI semapv:UnspecifiedMatching -OMIM:610009 ARSI skos:exactMatch ncbigene:340075 semapv:UnspecifiedMatching -OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:26286 semapv:UnspecifiedMatching -OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:ARSJ semapv:UnspecifiedMatching -OMIM:610010 ARSJ skos:exactMatch ncbigene:79642 semapv:UnspecifiedMatching -OMIM:610011 ARSK skos:exactMatch hgnc.symbol:25239 semapv:UnspecifiedMatching -OMIM:610011 ARSK skos:exactMatch hgnc.symbol:ARSK semapv:UnspecifiedMatching -OMIM:610011 ARSK skos:exactMatch ncbigene:153642 semapv:UnspecifiedMatching -OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:20391 semapv:UnspecifiedMatching -OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:SULF1 semapv:UnspecifiedMatching -OMIM:610012 SULF1 skos:exactMatch ncbigene:23213 semapv:UnspecifiedMatching -OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:20392 semapv:UnspecifiedMatching -OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:SULF2 semapv:UnspecifiedMatching -OMIM:610013 SULF2 skos:exactMatch ncbigene:55959 semapv:UnspecifiedMatching -OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:24128 semapv:UnspecifiedMatching -OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:TM2D3 semapv:UnspecifiedMatching -OMIM:610014 TM2D3 skos:exactMatch ncbigene:80213 semapv:UnspecifiedMatching -OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:31516 semapv:UnspecifiedMatching -OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:MIR132 semapv:UnspecifiedMatching -OMIM:610016 MIR132 skos:exactMatch ncbigene:406921 semapv:UnspecifiedMatching -OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching -OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching -OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:25516 semapv:UnspecifiedMatching -OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:ARHGEF40 semapv:UnspecifiedMatching -OMIM:610018 ARHGEF40 skos:exactMatch ncbigene:55701 semapv:UnspecifiedMatching -OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:23609 semapv:UnspecifiedMatching -OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:TBC1D10A semapv:UnspecifiedMatching -OMIM:610020 TBC1D10A skos:exactMatch ncbigene:83874 semapv:UnspecifiedMatching -OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching -OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching -OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:7604 semapv:UnspecifiedMatching -OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:MYO5C semapv:UnspecifiedMatching -OMIM:610022 MYO5C skos:exactMatch ncbigene:55930 semapv:UnspecifiedMatching -OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:20821 semapv:UnspecifiedMatching -OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:COL24A1 semapv:UnspecifiedMatching -OMIM:610025 COL24A1 skos:exactMatch ncbigene:255631 semapv:UnspecifiedMatching -OMIM:610026 COL22A1 skos:exactMatch hgnc.symbol:22989 semapv:UnspecifiedMatching -OMIM:610026 COL22A1 skos:exactMatch hgnc.symbol:COL22A1 semapv:UnspecifiedMatching -OMIM:610026 COL22A1 skos:exactMatch ncbigene:169044 semapv:UnspecifiedMatching -OMIM:610027 VPS26B skos:exactMatch hgnc.symbol:28119 semapv:UnspecifiedMatching -OMIM:610027 VPS26B skos:exactMatch hgnc.symbol:VPS26B semapv:UnspecifiedMatching -OMIM:610027 VPS26B skos:exactMatch ncbigene:112936 semapv:UnspecifiedMatching -OMIM:610028 PARP14 skos:exactMatch hgnc.symbol:29232 semapv:UnspecifiedMatching -OMIM:610028 PARP14 skos:exactMatch hgnc.symbol:PARP14 semapv:UnspecifiedMatching -OMIM:610028 PARP14 skos:exactMatch ncbigene:54625 semapv:UnspecifiedMatching -OMIM:610029 VDAC3 skos:exactMatch hgnc.symbol:12674 semapv:UnspecifiedMatching -OMIM:610029 VDAC3 skos:exactMatch hgnc.symbol:VDAC3 semapv:UnspecifiedMatching -OMIM:610029 VDAC3 skos:exactMatch ncbigene:7419 semapv:UnspecifiedMatching -OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc.symbol:12675 semapv:UnspecifiedMatching -OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc.symbol:VDAC1P4 semapv:UnspecifiedMatching -OMIM:610032 TNPO3 skos:exactMatch hgnc.symbol:17103 semapv:UnspecifiedMatching -OMIM:610032 TNPO3 skos:exactMatch hgnc.symbol:TNPO3 semapv:UnspecifiedMatching -OMIM:610032 TNPO3 skos:exactMatch ncbigene:23534 semapv:UnspecifiedMatching -OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:30009 semapv:UnspecifiedMatching -OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:PEF1 semapv:UnspecifiedMatching -OMIM:610033 PEF1 skos:exactMatch ncbigene:553115 semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch UMLS:C1425364 semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:18179 semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:VPS33A semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch ncbigene:65082 semapv:UnspecifiedMatching -OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:14579 semapv:UnspecifiedMatching -OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:VPS45 semapv:UnspecifiedMatching -OMIM:610035 VPS45 skos:exactMatch ncbigene:11311 semapv:UnspecifiedMatching -OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:2040 semapv:UnspecifiedMatching -OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:CLDN19 semapv:UnspecifiedMatching -OMIM:610036 CLDN19 skos:exactMatch ncbigene:149461 semapv:UnspecifiedMatching -OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:25754 semapv:UnspecifiedMatching -OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:VPS37B semapv:UnspecifiedMatching -OMIM:610037 VPS37B skos:exactMatch ncbigene:79720 semapv:UnspecifiedMatching -OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:26097 semapv:UnspecifiedMatching -OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:VPS37C semapv:UnspecifiedMatching -OMIM:610038 VPS37C skos:exactMatch ncbigene:55048 semapv:UnspecifiedMatching -OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:18287 semapv:UnspecifiedMatching -OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:VPS37D semapv:UnspecifiedMatching -OMIM:610039 VPS37D skos:exactMatch ncbigene:155382 semapv:UnspecifiedMatching -OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:15576 semapv:UnspecifiedMatching -OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:MYO3B semapv:UnspecifiedMatching -OMIM:610040 MYO3B skos:exactMatch ncbigene:140469 semapv:UnspecifiedMatching -OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:18537 semapv:UnspecifiedMatching -OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:NDFIP2 semapv:UnspecifiedMatching -OMIM:610041 NDFIP2 skos:exactMatch ncbigene:54602 semapv:UnspecifiedMatching -OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:22990 semapv:UnspecifiedMatching -OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:COL23A1 semapv:UnspecifiedMatching -OMIM:610043 COL23A1 skos:exactMatch ncbigene:91522 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch UMLS:C1425837 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:18866 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:KCNT2 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch ncbigene:343450 semapv:UnspecifiedMatching -OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching -OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C1412339 semapv:UnspecifiedMatching -OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:408 semapv:UnspecifiedMatching -OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:ALDH5A1 semapv:UnspecifiedMatching -OMIM:610045 ALDH5A1 skos:exactMatch ncbigene:7915 semapv:UnspecifiedMatching -OMIM:610046 LVRN skos:exactMatch hgnc.symbol:26904 semapv:UnspecifiedMatching -OMIM:610046 LVRN skos:exactMatch hgnc.symbol:LVRN semapv:UnspecifiedMatching -OMIM:610046 LVRN skos:exactMatch ncbigene:206338 semapv:UnspecifiedMatching -OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:28631 semapv:UnspecifiedMatching -OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:CNPY4 semapv:UnspecifiedMatching -OMIM:610047 CNPY4 skos:exactMatch ncbigene:245812 semapv:UnspecifiedMatching -OMIM:610049 SARNP skos:exactMatch hgnc.symbol:24432 semapv:UnspecifiedMatching -OMIM:610049 SARNP skos:exactMatch hgnc.symbol:SARNP semapv:UnspecifiedMatching -OMIM:610049 SARNP skos:exactMatch ncbigene:84324 semapv:UnspecifiedMatching -OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:29808 semapv:UnspecifiedMatching -OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:TMPRSS13 semapv:UnspecifiedMatching -OMIM:610050 TMPRSS13 skos:exactMatch ncbigene:84000 semapv:UnspecifiedMatching -OMIM:610051 CHMP4A skos:exactMatch UMLS:C1538457 semapv:UnspecifiedMatching -OMIM:610051 CHMP4A skos:exactMatch hgnc.symbol:20274 semapv:UnspecifiedMatching -OMIM:610051 CHMP4A skos:exactMatch hgnc.symbol:CHMP4A semapv:UnspecifiedMatching -OMIM:610051 CHMP4A skos:exactMatch ncbigene:29082 semapv:UnspecifiedMatching -OMIM:610052 CHMP3 skos:exactMatch hgnc.symbol:29865 semapv:UnspecifiedMatching -OMIM:610052 CHMP3 skos:exactMatch hgnc.symbol:CHMP3 semapv:UnspecifiedMatching -OMIM:610052 CHMP3 skos:exactMatch ncbigene:51652 semapv:UnspecifiedMatching -OMIM:610053 TUBGCP6 skos:exactMatch hgnc.symbol:18127 semapv:UnspecifiedMatching -OMIM:610053 TUBGCP6 skos:exactMatch hgnc.symbol:TUBGCP6 semapv:UnspecifiedMatching -OMIM:610053 TUBGCP6 skos:exactMatch ncbigene:85378 semapv:UnspecifiedMatching -OMIM:610054 MACROH2A1 skos:exactMatch hgnc.symbol:4740 semapv:UnspecifiedMatching -OMIM:610054 MACROH2A1 skos:exactMatch hgnc.symbol:MACROH2A1 semapv:UnspecifiedMatching -OMIM:610054 MACROH2A1 skos:exactMatch ncbigene:9555 semapv:UnspecifiedMatching -OMIM:610055 CC2D1A skos:exactMatch hgnc.symbol:30237 semapv:UnspecifiedMatching -OMIM:610055 CC2D1A skos:exactMatch hgnc.symbol:CC2D1A semapv:UnspecifiedMatching -OMIM:610055 CC2D1A skos:exactMatch ncbigene:54862 semapv:UnspecifiedMatching -OMIM:610056 SPAG7 skos:exactMatch hgnc.symbol:11216 semapv:UnspecifiedMatching -OMIM:610056 SPAG7 skos:exactMatch hgnc.symbol:SPAG7 semapv:UnspecifiedMatching -OMIM:610056 SPAG7 skos:exactMatch ncbigene:9552 semapv:UnspecifiedMatching -OMIM:610057 TECR skos:exactMatch hgnc.symbol:4551 semapv:UnspecifiedMatching -OMIM:610057 TECR skos:exactMatch hgnc.symbol:TECR semapv:UnspecifiedMatching -OMIM:610057 TECR skos:exactMatch ncbigene:9524 semapv:UnspecifiedMatching -OMIM:610058 TBCA skos:exactMatch hgnc.symbol:11579 semapv:UnspecifiedMatching -OMIM:610058 TBCA skos:exactMatch hgnc.symbol:TBCA semapv:UnspecifiedMatching -OMIM:610058 TBCA skos:exactMatch ncbigene:6902 semapv:UnspecifiedMatching -OMIM:610059 MRPL33 skos:exactMatch hgnc.symbol:14487 semapv:UnspecifiedMatching -OMIM:610059 MRPL33 skos:exactMatch hgnc.symbol:MRPL33 semapv:UnspecifiedMatching -OMIM:610059 MRPL33 skos:exactMatch ncbigene:9553 semapv:UnspecifiedMatching -OMIM:610060 POLR1C skos:exactMatch hgnc.symbol:20194 semapv:UnspecifiedMatching -OMIM:610060 POLR1C skos:exactMatch hgnc.symbol:POLR1C semapv:UnspecifiedMatching -OMIM:610060 POLR1C skos:exactMatch ncbigene:9533 semapv:UnspecifiedMatching -OMIM:610061 DNAH7 skos:exactMatch hgnc.symbol:18661 semapv:UnspecifiedMatching -OMIM:610061 DNAH7 skos:exactMatch hgnc.symbol:DNAH7 semapv:UnspecifiedMatching -OMIM:610061 DNAH7 skos:exactMatch ncbigene:56171 semapv:UnspecifiedMatching -OMIM:610062 DNAL1 skos:exactMatch hgnc.symbol:23247 semapv:UnspecifiedMatching -OMIM:610062 DNAL1 skos:exactMatch hgnc.symbol:DNAL1 semapv:UnspecifiedMatching -OMIM:610062 DNAL1 skos:exactMatch ncbigene:83544 semapv:UnspecifiedMatching -OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:2946 semapv:UnspecifiedMatching -OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:DNAH17 semapv:UnspecifiedMatching -OMIM:610063 DNAH17 skos:exactMatch ncbigene:8632 semapv:UnspecifiedMatching -OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching -OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching -OMIM:610067 MYO18A skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching -OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc.symbol:14472 semapv:UnspecifiedMatching -OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc.symbol:SLC26A6 semapv:UnspecifiedMatching -OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch ncbigene:65010 semapv:UnspecifiedMatching -OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:26118 semapv:UnspecifiedMatching -OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:MAP9 semapv:UnspecifiedMatching -OMIM:610070 aster-associated protein skos:exactMatch ncbigene:79884 semapv:UnspecifiedMatching -OMIM:610072 ERMN skos:exactMatch hgnc.symbol:29208 semapv:UnspecifiedMatching -OMIM:610072 ERMN skos:exactMatch hgnc.symbol:ERMN semapv:UnspecifiedMatching -OMIM:610072 ERMN skos:exactMatch ncbigene:57471 semapv:UnspecifiedMatching -OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:16036 semapv:UnspecifiedMatching -OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:ORMDL1 semapv:UnspecifiedMatching -OMIM:610073 ORMDL1 skos:exactMatch ncbigene:94101 semapv:UnspecifiedMatching -OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:16037 semapv:UnspecifiedMatching -OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:ORMDL2 semapv:UnspecifiedMatching -OMIM:610074 ORMDL2 skos:exactMatch ncbigene:29095 semapv:UnspecifiedMatching -OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:16038 semapv:UnspecifiedMatching -OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:ORMDL3 semapv:UnspecifiedMatching -OMIM:610075 ORMDL3 skos:exactMatch ncbigene:94103 semapv:UnspecifiedMatching -OMIM:610076 CDK20 skos:exactMatch hgnc.symbol:21420 semapv:UnspecifiedMatching -OMIM:610076 CDK20 skos:exactMatch hgnc.symbol:CDK20 semapv:UnspecifiedMatching -OMIM:610076 CDK20 skos:exactMatch ncbigene:23552 semapv:UnspecifiedMatching -OMIM:610077 RGCC skos:exactMatch hgnc.symbol:20369 semapv:UnspecifiedMatching -OMIM:610077 RGCC skos:exactMatch hgnc.symbol:RGCC semapv:UnspecifiedMatching -OMIM:610077 RGCC skos:exactMatch ncbigene:28984 semapv:UnspecifiedMatching -OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:23572 semapv:UnspecifiedMatching -OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:MORC3 semapv:UnspecifiedMatching -OMIM:610078 MORC3 skos:exactMatch ncbigene:23515 semapv:UnspecifiedMatching -OMIM:610079 SIAE skos:exactMatch hgnc.symbol:18187 semapv:UnspecifiedMatching -OMIM:610079 SIAE skos:exactMatch hgnc.symbol:SIAE semapv:UnspecifiedMatching -OMIM:610079 SIAE skos:exactMatch ncbigene:54414 semapv:UnspecifiedMatching -OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:24142 semapv:UnspecifiedMatching -OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:TM2D1 semapv:UnspecifiedMatching -OMIM:610080 TM2D1 skos:exactMatch ncbigene:83941 semapv:UnspecifiedMatching -OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:24127 semapv:UnspecifiedMatching -OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:TM2D2 semapv:UnspecifiedMatching -OMIM:610081 TM2D2 skos:exactMatch ncbigene:83877 semapv:UnspecifiedMatching -OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:21155 semapv:UnspecifiedMatching -OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:MYLIP semapv:UnspecifiedMatching -OMIM:610082 MYLIP skos:exactMatch ncbigene:29116 semapv:UnspecifiedMatching -OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:29944 semapv:UnspecifiedMatching -OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:TENM3 semapv:UnspecifiedMatching -OMIM:610083 TENM3 skos:exactMatch ncbigene:55714 semapv:UnspecifiedMatching -OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:29945 semapv:UnspecifiedMatching -OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:TENM4 semapv:UnspecifiedMatching -OMIM:610084 TENM4 skos:exactMatch ncbigene:26011 semapv:UnspecifiedMatching -OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:15549 semapv:UnspecifiedMatching -OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:FAM167A semapv:UnspecifiedMatching -OMIM:610085 FAM167A skos:exactMatch ncbigene:83648 semapv:UnspecifiedMatching -OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:5188 semapv:UnspecifiedMatching -OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:PRMT8 semapv:UnspecifiedMatching -OMIM:610086 PRMT8 skos:exactMatch ncbigene:56341 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch UMLS:C1826702 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:25557 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:PRMT7 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch ncbigene:54496 semapv:UnspecifiedMatching -OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:24956 semapv:UnspecifiedMatching -OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:OLFML3 semapv:UnspecifiedMatching -OMIM:610088 OLFML3 skos:exactMatch ncbigene:56944 semapv:UnspecifiedMatching -OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:21876 semapv:UnspecifiedMatching -OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:RINT1 semapv:UnspecifiedMatching -OMIM:610089 RINT1 skos:exactMatch ncbigene:60561 semapv:UnspecifiedMatching -OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:19221 semapv:UnspecifiedMatching -OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:WSB1 semapv:UnspecifiedMatching -OMIM:610091 WSB1 skos:exactMatch ncbigene:26118 semapv:UnspecifiedMatching -OMIM:610094 DEF6 skos:exactMatch UMLS:C1413972 semapv:UnspecifiedMatching -OMIM:610094 DEF6 skos:exactMatch hgnc.symbol:2760 semapv:UnspecifiedMatching -OMIM:610094 DEF6 skos:exactMatch hgnc.symbol:DEF6 semapv:UnspecifiedMatching -OMIM:610094 DEF6 skos:exactMatch ncbigene:50619 semapv:UnspecifiedMatching -OMIM:610095 KIR3DL3 skos:exactMatch hgnc.symbol:16312 semapv:UnspecifiedMatching -OMIM:610095 KIR3DL3 skos:exactMatch hgnc.symbol:KIR3DL3 semapv:UnspecifiedMatching -OMIM:610095 KIR3DL3 skos:exactMatch ncbigene:115653 semapv:UnspecifiedMatching -OMIM:610096 TIMD4 skos:exactMatch hgnc.symbol:25132 semapv:UnspecifiedMatching -OMIM:610096 TIMD4 skos:exactMatch hgnc.symbol:TIMD4 semapv:UnspecifiedMatching -OMIM:610096 TIMD4 skos:exactMatch ncbigene:91937 semapv:UnspecifiedMatching -OMIM:610097 ODF4 skos:exactMatch hgnc.symbol:19056 semapv:UnspecifiedMatching -OMIM:610097 ODF4 skos:exactMatch hgnc.symbol:ODF4 semapv:UnspecifiedMatching -OMIM:610097 ODF4 skos:exactMatch ncbigene:146852 semapv:UnspecifiedMatching -OMIM:610098 MCM9 skos:exactMatch hgnc.symbol:21484 semapv:UnspecifiedMatching -OMIM:610098 MCM9 skos:exactMatch hgnc.symbol:MCM9 semapv:UnspecifiedMatching -OMIM:610098 MCM9 skos:exactMatch ncbigene:254394 semapv:UnspecifiedMatching -OMIM:610099 myopathy, distal, 3 skos:exactMatch Orphanet:399086 semapv:UnspecifiedMatching -OMIM:610099 myopathy, distal, 3 skos:exactMatch UMLS:C1864706 semapv:UnspecifiedMatching -OMIM:610101 CUTC skos:exactMatch hgnc.symbol:24271 semapv:UnspecifiedMatching -OMIM:610101 CUTC skos:exactMatch hgnc.symbol:CUTC semapv:UnspecifiedMatching -OMIM:610101 CUTC skos:exactMatch ncbigene:51076 semapv:UnspecifiedMatching -OMIM:610102 complement component 7 deficiency skos:exactMatch Orphanet:169150 semapv:UnspecifiedMatching -OMIM:610102 complement component 7 deficiency skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching -OMIM:610103 S100Z skos:exactMatch hgnc.symbol:30367 semapv:UnspecifiedMatching -OMIM:610103 S100Z skos:exactMatch hgnc.symbol:S100Z semapv:UnspecifiedMatching -OMIM:610103 S100Z skos:exactMatch ncbigene:170591 semapv:UnspecifiedMatching -OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:31506 semapv:UnspecifiedMatching -OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:MIR125B1 semapv:UnspecifiedMatching -OMIM:610104 MIR125B1 skos:exactMatch ncbigene:406911 semapv:UnspecifiedMatching -OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:31507 semapv:UnspecifiedMatching -OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:MIR125B2 semapv:UnspecifiedMatching -OMIM:610105 MIR125B2 skos:exactMatch ncbigene:406912 semapv:UnspecifiedMatching -OMIM:610106 DBNL skos:exactMatch hgnc.symbol:2696 semapv:UnspecifiedMatching -OMIM:610106 DBNL skos:exactMatch hgnc.symbol:DBNL semapv:UnspecifiedMatching -OMIM:610106 DBNL skos:exactMatch ncbigene:28988 semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch UMLS:C1425254 semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch UMLS:C4540266 semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:18028 semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:OSGEP semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch ncbigene:55644 semapv:UnspecifiedMatching -OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:21625 semapv:UnspecifiedMatching -OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:ANO1 semapv:UnspecifiedMatching -OMIM:610108 ANO1 skos:exactMatch ncbigene:55107 semapv:UnspecifiedMatching -OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:1183 semapv:UnspecifiedMatching -OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:ANO2 semapv:UnspecifiedMatching -OMIM:610109 ANO2 skos:exactMatch ncbigene:57101 semapv:UnspecifiedMatching -OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:14004 semapv:UnspecifiedMatching -OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:ANO3 semapv:UnspecifiedMatching -OMIM:610110 ANO3 skos:exactMatch ncbigene:63982 semapv:UnspecifiedMatching -OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:23837 semapv:UnspecifiedMatching -OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:ANO4 semapv:UnspecifiedMatching -OMIM:610111 ANO4 skos:exactMatch ncbigene:121601 semapv:UnspecifiedMatching -OMIM:610112 CMIP skos:exactMatch hgnc.symbol:24319 semapv:UnspecifiedMatching -OMIM:610112 CMIP skos:exactMatch hgnc.symbol:CMIP semapv:UnspecifiedMatching -OMIM:610112 CMIP skos:exactMatch ncbigene:80790 semapv:UnspecifiedMatching -OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:19706 semapv:UnspecifiedMatching -OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:ADAMTSL4 semapv:UnspecifiedMatching -OMIM:610113 ADAMTSL4 skos:exactMatch ncbigene:54507 semapv:UnspecifiedMatching -OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:25525 semapv:UnspecifiedMatching -OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:NDC1 semapv:UnspecifiedMatching -OMIM:610115 TMEM48 skos:exactMatch ncbigene:55706 semapv:UnspecifiedMatching -OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:16442 semapv:UnspecifiedMatching -OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:P2RY14 semapv:UnspecifiedMatching -OMIM:610116 P2RY14 skos:exactMatch ncbigene:9934 semapv:UnspecifiedMatching -OMIM:610117 SLC26A11 skos:exactMatch hgnc.symbol:14471 semapv:UnspecifiedMatching -OMIM:610117 SLC26A11 skos:exactMatch hgnc.symbol:SLC26A11 semapv:UnspecifiedMatching -OMIM:610117 SLC26A11 skos:exactMatch ncbigene:284129 semapv:UnspecifiedMatching -OMIM:610118 GPR33 skos:exactMatch hgnc.symbol:4489 semapv:UnspecifiedMatching -OMIM:610118 GPR33 skos:exactMatch hgnc.symbol:GPR33 semapv:UnspecifiedMatching -OMIM:610118 GPR33 skos:exactMatch ncbigene:2856 semapv:UnspecifiedMatching -OMIM:610119 TENM2 skos:exactMatch hgnc.symbol:29943 semapv:UnspecifiedMatching -OMIM:610119 TENM2 skos:exactMatch hgnc.symbol:TENM2 semapv:UnspecifiedMatching -OMIM:610119 TENM2 skos:exactMatch ncbigene:57451 semapv:UnspecifiedMatching -OMIM:610120 TSPAN33 skos:exactMatch hgnc.symbol:28743 semapv:UnspecifiedMatching -OMIM:610120 TSPAN33 skos:exactMatch hgnc.symbol:TSPAN33 semapv:UnspecifiedMatching -OMIM:610120 TSPAN33 skos:exactMatch ncbigene:340348 semapv:UnspecifiedMatching -OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:24003 semapv:UnspecifiedMatching -OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:HTR3C semapv:UnspecifiedMatching -OMIM:610121 HTR3C skos:exactMatch ncbigene:170572 semapv:UnspecifiedMatching -OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:24004 semapv:UnspecifiedMatching -OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:HTR3D semapv:UnspecifiedMatching -OMIM:610122 HTR3D skos:exactMatch ncbigene:200909 semapv:UnspecifiedMatching -OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:24005 semapv:UnspecifiedMatching -OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:HTR3E semapv:UnspecifiedMatching -OMIM:610123 HTR3E skos:exactMatch ncbigene:285242 semapv:UnspecifiedMatching -OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:21755 semapv:UnspecifiedMatching -OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:CHST13 semapv:UnspecifiedMatching -OMIM:610124 CHST13 skos:exactMatch ncbigene:166012 semapv:UnspecifiedMatching -OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:17422 semapv:UnspecifiedMatching -OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:CHST11 semapv:UnspecifiedMatching -OMIM:610128 CHST11 skos:exactMatch ncbigene:50515 semapv:UnspecifiedMatching -OMIM:610129 CHST12 skos:exactMatch hgnc.symbol:17423 semapv:UnspecifiedMatching -OMIM:610129 CHST12 skos:exactMatch hgnc.symbol:CHST12 semapv:UnspecifiedMatching -OMIM:610129 CHST12 skos:exactMatch ncbigene:55501 semapv:UnspecifiedMatching -OMIM:610130 SLC26A1 skos:exactMatch hgnc.symbol:10993 semapv:UnspecifiedMatching -OMIM:610130 SLC26A1 skos:exactMatch hgnc.symbol:SLC26A1 semapv:UnspecifiedMatching -OMIM:610130 SLC26A1 skos:exactMatch ncbigene:10861 semapv:UnspecifiedMatching -OMIM:610132 VANGL1 skos:exactMatch hgnc.symbol:15512 semapv:UnspecifiedMatching -OMIM:610132 VANGL1 skos:exactMatch hgnc.symbol:VANGL1 semapv:UnspecifiedMatching -OMIM:610132 VANGL1 skos:exactMatch ncbigene:81839 semapv:UnspecifiedMatching -OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc.symbol:19343 semapv:UnspecifiedMatching -OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc.symbol:ST6GALNAC3 semapv:UnspecifiedMatching -OMIM:610133 ST6GALNAC3 skos:exactMatch ncbigene:256435 semapv:UnspecifiedMatching -OMIM:610134 ST6GALNAC5 skos:exactMatch UMLS:C1539871 semapv:UnspecifiedMatching -OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc.symbol:19342 semapv:UnspecifiedMatching -OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc.symbol:ST6GALNAC5 semapv:UnspecifiedMatching -OMIM:610134 ST6GALNAC5 skos:exactMatch ncbigene:81849 semapv:UnspecifiedMatching -OMIM:610135 ST6GALNAC6 skos:exactMatch UMLS:C1539872 semapv:UnspecifiedMatching -OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc.symbol:23364 semapv:UnspecifiedMatching -OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc.symbol:ST6GALNAC6 semapv:UnspecifiedMatching -OMIM:610135 ST6GALNAC6 skos:exactMatch ncbigene:30815 semapv:UnspecifiedMatching -OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc.symbol:10867 semapv:UnspecifiedMatching -OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc.symbol:ST6GALNAC2 semapv:UnspecifiedMatching -OMIM:610137 ST6GALNAC2 skos:exactMatch ncbigene:10610 semapv:UnspecifiedMatching -OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc.symbol:23614 semapv:UnspecifiedMatching -OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc.symbol:ST6GALNAC1 semapv:UnspecifiedMatching -OMIM:610138 ST6GALNAC1 skos:exactMatch ncbigene:55808 semapv:UnspecifiedMatching -OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:23317 semapv:UnspecifiedMatching -OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:ST8SIA6 semapv:UnspecifiedMatching -OMIM:610139 ST8SIA6 skos:exactMatch ncbigene:338596 semapv:UnspecifiedMatching -OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:29021 semapv:UnspecifiedMatching -OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:CEP290 semapv:UnspecifiedMatching -OMIM:610142 CEP290 skos:exactMatch ncbigene:80184 semapv:UnspecifiedMatching -OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:27011 semapv:UnspecifiedMatching -OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:TBC1D3B semapv:UnspecifiedMatching -OMIM:610144 TBC1D3B skos:exactMatch ncbigene:414059 semapv:UnspecifiedMatching -OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:13275 semapv:UnspecifiedMatching -OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:ECE2 semapv:UnspecifiedMatching -OMIM:610145 ECE2 skos:exactMatch ncbigene:9718 semapv:UnspecifiedMatching -OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:14062 semapv:UnspecifiedMatching -OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:IGF2-AS semapv:UnspecifiedMatching -OMIM:610146 IGF2AS skos:exactMatch ncbigene:51214 semapv:UnspecifiedMatching -OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:19680 semapv:UnspecifiedMatching -OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:GPBAR1 semapv:UnspecifiedMatching -OMIM:610147 GPBAR1 skos:exactMatch ncbigene:151306 semapv:UnspecifiedMatching -OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:26291 semapv:UnspecifiedMatching -OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:BBS10 semapv:UnspecifiedMatching -OMIM:610148 BBS10 skos:exactMatch ncbigene:79738 semapv:UnspecifiedMatching -OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:1618 semapv:UnspecifiedMatching -OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:CCT5 semapv:UnspecifiedMatching -OMIM:610150 CCT5 skos:exactMatch ncbigene:22948 semapv:UnspecifiedMatching -OMIM:610151 METAP1 skos:exactMatch hgnc.symbol:15789 semapv:UnspecifiedMatching -OMIM:610151 METAP1 skos:exactMatch hgnc.symbol:METAP1 semapv:UnspecifiedMatching -OMIM:610151 METAP1 skos:exactMatch ncbigene:23173 semapv:UnspecifiedMatching -OMIM:610152 CENPM skos:exactMatch hgnc.symbol:18352 semapv:UnspecifiedMatching -OMIM:610152 CENPM skos:exactMatch hgnc.symbol:CENPM semapv:UnspecifiedMatching -OMIM:610152 CENPM skos:exactMatch ncbigene:79019 semapv:UnspecifiedMatching -OMIM:610155 iia 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:UnspecifiedMatching -OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:18316 semapv:UnspecifiedMatching -OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:ZNF366 semapv:UnspecifiedMatching -OMIM:610159 ZNF366 skos:exactMatch ncbigene:167465 semapv:UnspecifiedMatching -OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:18320 semapv:UnspecifiedMatching -OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:ZNF367 semapv:UnspecifiedMatching -OMIM:610160 ZNF367 skos:exactMatch ncbigene:195828 semapv:UnspecifiedMatching -OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:15581 semapv:UnspecifiedMatching -OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:TFAP2D semapv:UnspecifiedMatching -OMIM:610161 TFAP2D skos:exactMatch ncbigene:83741 semapv:UnspecifiedMatching -OMIM:610162 CCDC28B skos:exactMatch hgnc.symbol:28163 semapv:UnspecifiedMatching -OMIM:610162 CCDC28B skos:exactMatch hgnc.symbol:CCDC28B semapv:UnspecifiedMatching -OMIM:610162 CCDC28B skos:exactMatch ncbigene:79140 semapv:UnspecifiedMatching -OMIM:610164 MIRN134 skos:exactMatch hgnc.symbol:31519 semapv:UnspecifiedMatching -OMIM:610164 MIRN134 skos:exactMatch hgnc.symbol:MIR134 semapv:UnspecifiedMatching -OMIM:610164 MIRN134 skos:exactMatch ncbigene:406924 semapv:UnspecifiedMatching -OMIM:610165 GTDC1 skos:exactMatch hgnc.symbol:20887 semapv:UnspecifiedMatching -OMIM:610165 GTDC1 skos:exactMatch hgnc.symbol:GTDC1 semapv:UnspecifiedMatching -OMIM:610165 GTDC1 skos:exactMatch ncbigene:79712 semapv:UnspecifiedMatching -OMIM:610166 IQSEC1 skos:exactMatch hgnc.symbol:29112 semapv:UnspecifiedMatching -OMIM:610166 IQSEC1 skos:exactMatch hgnc.symbol:IQSEC1 semapv:UnspecifiedMatching -OMIM:610166 IQSEC1 skos:exactMatch ncbigene:9922 semapv:UnspecifiedMatching -OMIM:610167 PHPT1 skos:exactMatch hgnc.symbol:30033 semapv:UnspecifiedMatching -OMIM:610167 PHPT1 skos:exactMatch hgnc.symbol:PHPT1 semapv:UnspecifiedMatching -OMIM:610167 PHPT1 skos:exactMatch ncbigene:29085 semapv:UnspecifiedMatching -OMIM:610169 INO80 skos:exactMatch hgnc.symbol:26956 semapv:UnspecifiedMatching -OMIM:610169 INO80 skos:exactMatch hgnc.symbol:INO80 semapv:UnspecifiedMatching -OMIM:610169 INO80 skos:exactMatch ncbigene:54617 semapv:UnspecifiedMatching -OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:24193 semapv:UnspecifiedMatching -OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:CALML6 semapv:UnspecifiedMatching -OMIM:610171 CALML6 skos:exactMatch ncbigene:163688 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch UMLS:C1857794 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:26293 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:SPEF2 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch ncbigene:79925 semapv:UnspecifiedMatching -OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:31497 semapv:UnspecifiedMatching -OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:MIR10A semapv:UnspecifiedMatching -OMIM:610173 MIR10A skos:exactMatch ncbigene:406902 semapv:UnspecifiedMatching -OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:24463 semapv:UnspecifiedMatching -OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:UBTD2 semapv:UnspecifiedMatching -OMIM:610174 UBTD2 skos:exactMatch ncbigene:92181 semapv:UnspecifiedMatching -OMIM:610175 MIR130A skos:exactMatch hgnc.symbol:31514 semapv:UnspecifiedMatching -OMIM:610175 MIR130A skos:exactMatch hgnc.symbol:MIR130A semapv:UnspecifiedMatching -OMIM:610175 MIR130A skos:exactMatch ncbigene:406919 semapv:UnspecifiedMatching -OMIM:610176 SCGB1C1 skos:exactMatch hgnc.symbol:18394 semapv:UnspecifiedMatching -OMIM:610176 SCGB1C1 skos:exactMatch hgnc.symbol:SCGB1C1 semapv:UnspecifiedMatching -OMIM:610176 SCGB1C1 skos:exactMatch ncbigene:147199 semapv:UnspecifiedMatching -OMIM:610177 AEN skos:exactMatch hgnc.symbol:25722 semapv:UnspecifiedMatching -OMIM:610177 AEN skos:exactMatch hgnc.symbol:AEN semapv:UnspecifiedMatching -OMIM:610177 AEN skos:exactMatch ncbigene:64782 semapv:UnspecifiedMatching -OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:19960 semapv:UnspecifiedMatching -OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:KIAA0586 semapv:UnspecifiedMatching -OMIM:610178 KIAA0586 skos:exactMatch ncbigene:9786 semapv:UnspecifiedMatching -OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:30041 semapv:UnspecifiedMatching -OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:PLB1 semapv:UnspecifiedMatching -OMIM:610179 PLB1 skos:exactMatch ncbigene:151056 semapv:UnspecifiedMatching -OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:8510 semapv:UnspecifiedMatching -OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:OSTF1 semapv:UnspecifiedMatching -OMIM:610180 OSTF1 skos:exactMatch ncbigene:26578 semapv:UnspecifiedMatching -OMIM:610182 PALMD skos:exactMatch hgnc.symbol:15846 semapv:UnspecifiedMatching -OMIM:610182 PALMD skos:exactMatch hgnc.symbol:PALMD semapv:UnspecifiedMatching -OMIM:610182 PALMD skos:exactMatch ncbigene:54873 semapv:UnspecifiedMatching -OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:30164 semapv:UnspecifiedMatching -OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:ZFAND6 semapv:UnspecifiedMatching -OMIM:610183 ZFAND6 skos:exactMatch ncbigene:54469 semapv:UnspecifiedMatching -OMIM:610184 MOGAT3 skos:exactMatch hgnc.symbol:23249 semapv:UnspecifiedMatching -OMIM:610184 MOGAT3 skos:exactMatch hgnc.symbol:MOGAT3 semapv:UnspecifiedMatching -OMIM:610184 MOGAT3 skos:exactMatch ncbigene:346606 semapv:UnspecifiedMatching -OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:34434 semapv:UnspecifiedMatching -OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:USP17L2 semapv:UnspecifiedMatching -OMIM:610186 USP17L2 skos:exactMatch ncbigene:377630 semapv:UnspecifiedMatching -OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:15993 semapv:UnspecifiedMatching -OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:CHST8 semapv:UnspecifiedMatching -OMIM:610190 CHST8 skos:exactMatch ncbigene:64377 semapv:UnspecifiedMatching -OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:19898 semapv:UnspecifiedMatching -OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:CHST9 semapv:UnspecifiedMatching -OMIM:610191 CHST9 skos:exactMatch ncbigene:83539 semapv:UnspecifiedMatching -OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:28510 semapv:UnspecifiedMatching -OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:GLIS3 semapv:UnspecifiedMatching -OMIM:610192 GLIS3 skos:exactMatch ncbigene:169792 semapv:UnspecifiedMatching -OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:28596 semapv:UnspecifiedMatching -OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:B3GALNT2 semapv:UnspecifiedMatching -OMIM:610194 B3GALNT2 skos:exactMatch ncbigene:148789 semapv:UnspecifiedMatching -OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:9632 semapv:UnspecifiedMatching -OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:PTOV1 semapv:UnspecifiedMatching -OMIM:610195 PTOV1 skos:exactMatch ncbigene:53635 semapv:UnspecifiedMatching -OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:28111 semapv:UnspecifiedMatching -OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:ELMOD2 semapv:UnspecifiedMatching -OMIM:610196 ELMOD2 skos:exactMatch ncbigene:255520 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch UMLS:C1537681 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch UMLS:C4225323 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch hgnc.symbol:28845 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch hgnc.symbol:MED25 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch ncbigene:81857 semapv:UnspecifiedMatching -OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:14278 semapv:UnspecifiedMatching -OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:MRPL13 semapv:UnspecifiedMatching -OMIM:610200 MRPL13 skos:exactMatch ncbigene:28998 semapv:UnspecifiedMatching -OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:21107 semapv:UnspecifiedMatching -OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:CEP162 semapv:UnspecifiedMatching -OMIM:610201 CEP162 skos:exactMatch ncbigene:22832 semapv:UnspecifiedMatching -OMIM:610202 cataract 21, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C1857768 semapv:UnspecifiedMatching -OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C3888097 semapv:UnspecifiedMatching -OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:16438 semapv:UnspecifiedMatching -OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:SLC4A11 semapv:UnspecifiedMatching -OMIM:610206 SLC4A11 skos:exactMatch ncbigene:83959 semapv:UnspecifiedMatching -OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:11035 semapv:UnspecifiedMatching -OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:SLC4A9 semapv:UnspecifiedMatching -OMIM:610207 SLC4A9 skos:exactMatch ncbigene:83697 semapv:UnspecifiedMatching -OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:24966 semapv:UnspecifiedMatching -OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:MAF1 semapv:UnspecifiedMatching -OMIM:610210 MAF1 skos:exactMatch ncbigene:84232 semapv:UnspecifiedMatching -OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:20495 semapv:UnspecifiedMatching -OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:SLIRP semapv:UnspecifiedMatching -OMIM:610211 SLIRP skos:exactMatch ncbigene:81892 semapv:UnspecifiedMatching -OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:16787 semapv:UnspecifiedMatching -OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:EDEM3 semapv:UnspecifiedMatching -OMIM:610214 EDEM3 skos:exactMatch ncbigene:80267 semapv:UnspecifiedMatching -OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:30275 semapv:UnspecifiedMatching -OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:ARHGEF25 semapv:UnspecifiedMatching -OMIM:610215 ARHGEF25 skos:exactMatch ncbigene:115557 semapv:UnspecifiedMatching -OMIM:610216 ANO8 skos:exactMatch hgnc.symbol:29329 semapv:UnspecifiedMatching -OMIM:610216 ANO8 skos:exactMatch hgnc.symbol:ANO8 semapv:UnspecifiedMatching -OMIM:610216 ANO8 skos:exactMatch ncbigene:57719 semapv:UnspecifiedMatching -OMIM:610218 SAP30BP skos:exactMatch hgnc.symbol:30785 semapv:UnspecifiedMatching -OMIM:610218 SAP30BP skos:exactMatch hgnc.symbol:SAP30BP semapv:UnspecifiedMatching -OMIM:610218 SAP30BP skos:exactMatch ncbigene:29115 semapv:UnspecifiedMatching -OMIM:610219 PJVK skos:exactMatch hgnc.symbol:29502 semapv:UnspecifiedMatching -OMIM:610219 PJVK skos:exactMatch hgnc.symbol:PJVK semapv:UnspecifiedMatching -OMIM:610219 PJVK skos:exactMatch ncbigene:494513 semapv:UnspecifiedMatching -OMIM:610221 AKT1S1 skos:exactMatch hgnc.symbol:28426 semapv:UnspecifiedMatching -OMIM:610221 AKT1S1 skos:exactMatch hgnc.symbol:AKT1S1 semapv:UnspecifiedMatching -OMIM:610221 AKT1S1 skos:exactMatch ncbigene:84335 semapv:UnspecifiedMatching -OMIM:610222 RIN2 skos:exactMatch UMLS:C1425756 semapv:UnspecifiedMatching -OMIM:610222 RIN2 skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching -OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:18750 semapv:UnspecifiedMatching -OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:RIN2 semapv:UnspecifiedMatching -OMIM:610222 RIN2 skos:exactMatch ncbigene:54453 semapv:UnspecifiedMatching -OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:18751 semapv:UnspecifiedMatching -OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:RIN3 semapv:UnspecifiedMatching -OMIM:610223 RIN3 skos:exactMatch ncbigene:79890 semapv:UnspecifiedMatching -OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:27845 semapv:UnspecifiedMatching -OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:SOHLH1 semapv:UnspecifiedMatching -OMIM:610224 SOHLH1 skos:exactMatch ncbigene:402381 semapv:UnspecifiedMatching -OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:28749 semapv:UnspecifiedMatching -OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:RPS19BP1 semapv:UnspecifiedMatching -OMIM:610225 RPS19BP1 skos:exactMatch ncbigene:91582 semapv:UnspecifiedMatching -OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:25843 semapv:UnspecifiedMatching -OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:ZNF750 semapv:UnspecifiedMatching -OMIM:610226 ZNF750 skos:exactMatch ncbigene:79755 semapv:UnspecifiedMatching -OMIM:610228 CAPN13 skos:exactMatch hgnc.symbol:16663 semapv:UnspecifiedMatching -OMIM:610228 CAPN13 skos:exactMatch hgnc.symbol:CAPN13 semapv:UnspecifiedMatching -OMIM:610228 CAPN13 skos:exactMatch ncbigene:92291 semapv:UnspecifiedMatching -OMIM:610229 CAPN14 skos:exactMatch hgnc.symbol:16664 semapv:UnspecifiedMatching -OMIM:610229 CAPN14 skos:exactMatch hgnc.symbol:CAPN14 semapv:UnspecifiedMatching -OMIM:610229 CAPN14 skos:exactMatch ncbigene:440854 semapv:UnspecifiedMatching -OMIM:610230 TRMU skos:exactMatch hgnc.symbol:25481 semapv:UnspecifiedMatching -OMIM:610230 TRMU skos:exactMatch hgnc.symbol:TRMU semapv:UnspecifiedMatching -OMIM:610230 TRMU skos:exactMatch ncbigene:55687 semapv:UnspecifiedMatching -OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:17615 semapv:UnspecifiedMatching -OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:PCGF1 semapv:UnspecifiedMatching -OMIM:610231 PCGF1 skos:exactMatch ncbigene:84759 semapv:UnspecifiedMatching -OMIM:610232 ATP13A3 skos:exactMatch UMLS:C1540216 semapv:UnspecifiedMatching -OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:24113 semapv:UnspecifiedMatching -OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:ATP13A3 semapv:UnspecifiedMatching -OMIM:610232 ATP13A3 skos:exactMatch ncbigene:79572 semapv:UnspecifiedMatching -OMIM:610235 MTFP1 skos:exactMatch UMLS:C1853254 semapv:UnspecifiedMatching -OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:26945 semapv:UnspecifiedMatching -OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:MTFP1 semapv:UnspecifiedMatching -OMIM:610235 MTFP1 skos:exactMatch ncbigene:51537 semapv:UnspecifiedMatching -OMIM:610236 LNPK skos:exactMatch hgnc.symbol:21610 semapv:UnspecifiedMatching -OMIM:610236 LNPK skos:exactMatch hgnc.symbol:LNPK semapv:UnspecifiedMatching -OMIM:610236 LNPK skos:exactMatch ncbigene:80856 semapv:UnspecifiedMatching -OMIM:610237 MED30 skos:exactMatch hgnc.symbol:23032 semapv:UnspecifiedMatching -OMIM:610237 MED30 skos:exactMatch hgnc.symbol:MED30 semapv:UnspecifiedMatching -OMIM:610237 MED30 skos:exactMatch ncbigene:90390 semapv:UnspecifiedMatching -OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:23091 semapv:UnspecifiedMatching -OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:SLC5A11 semapv:UnspecifiedMatching -OMIM:610238 SLC5A11 skos:exactMatch ncbigene:115584 semapv:UnspecifiedMatching -OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:29568 semapv:UnspecifiedMatching -OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:LHFPL4 semapv:UnspecifiedMatching -OMIM:610240 LHFPL4 skos:exactMatch ncbigene:375323 semapv:UnspecifiedMatching -OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:17118 semapv:UnspecifiedMatching -OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:RNF32 semapv:UnspecifiedMatching -OMIM:610241 RNF32 skos:exactMatch ncbigene:140545 semapv:UnspecifiedMatching -OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:48971 semapv:UnspecifiedMatching -OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:RNF32-DT semapv:UnspecifiedMatching -OMIM:610242 C7ORF13 skos:exactMatch ncbigene:100506380 semapv:UnspecifiedMatching -OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:26559 semapv:UnspecifiedMatching -OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:ZFYVE27 semapv:UnspecifiedMatching -OMIM:610243 ZFYVE27 skos:exactMatch ncbigene:118813 semapv:UnspecifiedMatching -OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching -OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching -OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:14683 semapv:UnspecifiedMatching -OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:POFUT2 semapv:UnspecifiedMatching -OMIM:610249 POFUT2 skos:exactMatch ncbigene:23275 semapv:UnspecifiedMatching -OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:31500 semapv:UnspecifiedMatching -OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:MIR1-2 semapv:UnspecifiedMatching -OMIM:610252 MIR1-2 skos:exactMatch ncbigene:406905 semapv:UnspecifiedMatching -OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:31517 semapv:UnspecifiedMatching -OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:MIR133A1 semapv:UnspecifiedMatching -OMIM:610254 MIR133A1 skos:exactMatch ncbigene:406922 semapv:UnspecifiedMatching -OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:31518 semapv:UnspecifiedMatching -OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:MIR133A2 semapv:UnspecifiedMatching -OMIM:610255 MIR133A2 skos:exactMatch ncbigene:406923 semapv:UnspecifiedMatching -OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:17052 semapv:UnspecifiedMatching -OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:SEC31A semapv:UnspecifiedMatching -OMIM:610257 SEC31A skos:exactMatch ncbigene:22872 semapv:UnspecifiedMatching -OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:23197 semapv:UnspecifiedMatching -OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:SEC31B semapv:UnspecifiedMatching -OMIM:610258 SEC31B skos:exactMatch ncbigene:25956 semapv:UnspecifiedMatching -OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:33165 semapv:UnspecifiedMatching -OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:LINC00163 semapv:UnspecifiedMatching -OMIM:610259 LINC00163 skos:exactMatch ncbigene:727699 semapv:UnspecifiedMatching -OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:30718 semapv:UnspecifiedMatching -OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:DNAJB13 semapv:UnspecifiedMatching -OMIM:610263 DNAJB13 skos:exactMatch ncbigene:374407 semapv:UnspecifiedMatching -OMIM:610264 TEPP skos:exactMatch hgnc.symbol:SPMIP8 semapv:UnspecifiedMatching -OMIM:610264 TEPP skos:exactMatch ncbigene:374739 semapv:UnspecifiedMatching -OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:29259 semapv:UnspecifiedMatching -OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:TAOK1 semapv:UnspecifiedMatching -OMIM:610266 TAOK1 skos:exactMatch ncbigene:57551 semapv:UnspecifiedMatching -OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:32583 semapv:UnspecifiedMatching -OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:METAP1D semapv:UnspecifiedMatching -OMIM:610267 METAP1D skos:exactMatch ncbigene:254042 semapv:UnspecifiedMatching -OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:18210 semapv:UnspecifiedMatching -OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:MOGAT1 semapv:UnspecifiedMatching -OMIM:610268 MOGAT1 skos:exactMatch ncbigene:116255 semapv:UnspecifiedMatching -OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:23248 semapv:UnspecifiedMatching -OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:MOGAT2 semapv:UnspecifiedMatching -OMIM:610270 MOGAT2 skos:exactMatch ncbigene:80168 semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch UMLS:C1423069 semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch UMLS:C4748357 semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch hgnc.symbol:14937 semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch hgnc.symbol:PIGS semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch ncbigene:94005 semapv:UnspecifiedMatching -OMIM:610272 PIGT skos:exactMatch hgnc.symbol:14938 semapv:UnspecifiedMatching -OMIM:610272 PIGT skos:exactMatch hgnc.symbol:PIGT semapv:UnspecifiedMatching -OMIM:610272 PIGT skos:exactMatch ncbigene:51604 semapv:UnspecifiedMatching -OMIM:610273 PIGM skos:exactMatch hgnc.symbol:18858 semapv:UnspecifiedMatching -OMIM:610273 PIGM skos:exactMatch hgnc.symbol:PIGM semapv:UnspecifiedMatching -OMIM:610273 PIGM skos:exactMatch ncbigene:93183 semapv:UnspecifiedMatching -OMIM:610274 PIGV skos:exactMatch hgnc.symbol:26031 semapv:UnspecifiedMatching -OMIM:610274 PIGV skos:exactMatch hgnc.symbol:PIGV semapv:UnspecifiedMatching -OMIM:610274 PIGV skos:exactMatch ncbigene:55650 semapv:UnspecifiedMatching -OMIM:610275 PIGW skos:exactMatch hgnc.symbol:23213 semapv:UnspecifiedMatching -OMIM:610275 PIGW skos:exactMatch hgnc.symbol:PIGW semapv:UnspecifiedMatching -OMIM:610275 PIGW skos:exactMatch ncbigene:284098 semapv:UnspecifiedMatching -OMIM:610276 PIGX skos:exactMatch hgnc.symbol:26046 semapv:UnspecifiedMatching -OMIM:610276 PIGX skos:exactMatch hgnc.symbol:PIGX semapv:UnspecifiedMatching -OMIM:610276 PIGX skos:exactMatch ncbigene:54965 semapv:UnspecifiedMatching -OMIM:610277 ORAI1 skos:exactMatch hgnc.symbol:25896 semapv:UnspecifiedMatching -OMIM:610277 ORAI1 skos:exactMatch hgnc.symbol:ORAI1 semapv:UnspecifiedMatching -OMIM:610277 ORAI1 skos:exactMatch ncbigene:84876 semapv:UnspecifiedMatching -OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.symbol:33631 semapv:UnspecifiedMatching -OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.symbol:PEAR1 semapv:UnspecifiedMatching -OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch ncbigene:375033 semapv:UnspecifiedMatching -OMIM:610280 OSTN skos:exactMatch hgnc.symbol:29961 semapv:UnspecifiedMatching -OMIM:610280 OSTN skos:exactMatch hgnc.symbol:OSTN semapv:UnspecifiedMatching -OMIM:610280 OSTN skos:exactMatch ncbigene:344901 semapv:UnspecifiedMatching -OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:23241 semapv:UnspecifiedMatching -OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:ZFP62 semapv:UnspecifiedMatching -OMIM:610281 ZFP62 skos:exactMatch ncbigene:643836 semapv:UnspecifiedMatching -OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:29569 semapv:UnspecifiedMatching -OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:LIPT1 semapv:UnspecifiedMatching -OMIM:610284 LIPT1 skos:exactMatch ncbigene:51601 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch UMLS:C1824957 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch UMLS:C1850792 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:26594 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:DOK7 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch ncbigene:285489 semapv:UnspecifiedMatching -OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:17557 semapv:UnspecifiedMatching -OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:LCMT1 semapv:UnspecifiedMatching -OMIM:610286 LCMT1 skos:exactMatch ncbigene:51451 semapv:UnspecifiedMatching -OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:28155 semapv:UnspecifiedMatching -OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:FBXL15 semapv:UnspecifiedMatching -OMIM:610287 FBXL15 skos:exactMatch ncbigene:79176 semapv:UnspecifiedMatching -OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:13567 semapv:UnspecifiedMatching -OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:GOLGA6A semapv:UnspecifiedMatching -OMIM:610288 GOLGA6A skos:exactMatch ncbigene:342096 semapv:UnspecifiedMatching -OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:18606 semapv:UnspecifiedMatching -OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:OXCT2 semapv:UnspecifiedMatching -OMIM:610289 OXCT2 skos:exactMatch ncbigene:64064 semapv:UnspecifiedMatching -OMIM:610290 GALNT12 skos:exactMatch hgnc.symbol:19877 semapv:UnspecifiedMatching -OMIM:610290 GALNT12 skos:exactMatch hgnc.symbol:GALNT12 semapv:UnspecifiedMatching -OMIM:610290 GALNT12 skos:exactMatch ncbigene:79695 semapv:UnspecifiedMatching -OMIM:610291 SV2C skos:exactMatch hgnc.symbol:30670 semapv:UnspecifiedMatching -OMIM:610291 SV2C skos:exactMatch hgnc.symbol:SV2C semapv:UnspecifiedMatching -OMIM:610291 SV2C skos:exactMatch ncbigene:22987 semapv:UnspecifiedMatching -OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:18233 semapv:UnspecifiedMatching -OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:BANK1 semapv:UnspecifiedMatching -OMIM:610292 BANK1 skos:exactMatch ncbigene:55024 semapv:UnspecifiedMatching -OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching -OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C1853205 semapv:UnspecifiedMatching -OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching -OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:22208 semapv:UnspecifiedMatching -OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:NUDCD3 semapv:UnspecifiedMatching -OMIM:610296 NUDCD3 skos:exactMatch ncbigene:23386 semapv:UnspecifiedMatching -OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:29573 semapv:UnspecifiedMatching -OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:PHLDB2 semapv:UnspecifiedMatching -OMIM:610298 PHLDB2 skos:exactMatch ncbigene:90102 semapv:UnspecifiedMatching -OMIM:610299 SLC6A17 skos:exactMatch hgnc.symbol:31399 semapv:UnspecifiedMatching -OMIM:610299 SLC6A17 skos:exactMatch hgnc.symbol:SLC6A17 semapv:UnspecifiedMatching -OMIM:610299 SLC6A17 skos:exactMatch ncbigene:388662 semapv:UnspecifiedMatching -OMIM:610300 SLC6A18 skos:exactMatch hgnc.symbol:26441 semapv:UnspecifiedMatching -OMIM:610300 SLC6A18 skos:exactMatch hgnc.symbol:SLC6A18 semapv:UnspecifiedMatching -OMIM:610300 SLC6A18 skos:exactMatch ncbigene:348932 semapv:UnspecifiedMatching -OMIM:610301 TMEM57 skos:exactMatch hgnc.symbol:25572 semapv:UnspecifiedMatching -OMIM:610301 TMEM57 skos:exactMatch hgnc.symbol:MACO1 semapv:UnspecifiedMatching -OMIM:610301 TMEM57 skos:exactMatch ncbigene:55219 semapv:UnspecifiedMatching -OMIM:610302 EDEM2 skos:exactMatch hgnc.symbol:15877 semapv:UnspecifiedMatching -OMIM:610302 EDEM2 skos:exactMatch hgnc.symbol:EDEM2 semapv:UnspecifiedMatching -OMIM:610302 EDEM2 skos:exactMatch ncbigene:55741 semapv:UnspecifiedMatching -OMIM:610303 MAFA skos:exactMatch hgnc.symbol:23145 semapv:UnspecifiedMatching -OMIM:610303 MAFA skos:exactMatch hgnc.symbol:MAFA semapv:UnspecifiedMatching -OMIM:610303 MAFA skos:exactMatch ncbigene:389692 semapv:UnspecifiedMatching -OMIM:610304 DERL2 skos:exactMatch hgnc.symbol:17943 semapv:UnspecifiedMatching -OMIM:610304 DERL2 skos:exactMatch hgnc.symbol:DERL2 semapv:UnspecifiedMatching -OMIM:610304 DERL2 skos:exactMatch ncbigene:51009 semapv:UnspecifiedMatching -OMIM:610305 DERL3 skos:exactMatch hgnc.symbol:14236 semapv:UnspecifiedMatching -OMIM:610305 DERL3 skos:exactMatch hgnc.symbol:DERL3 semapv:UnspecifiedMatching -OMIM:610305 DERL3 skos:exactMatch ncbigene:91319 semapv:UnspecifiedMatching -OMIM:610306 NPNT skos:exactMatch hgnc.symbol:27405 semapv:UnspecifiedMatching -OMIM:610306 NPNT skos:exactMatch hgnc.symbol:NPNT semapv:UnspecifiedMatching -OMIM:610306 NPNT skos:exactMatch ncbigene:255743 semapv:UnspecifiedMatching -OMIM:610307 CERK skos:exactMatch hgnc.symbol:19256 semapv:UnspecifiedMatching -OMIM:610307 CERK skos:exactMatch hgnc.symbol:CERK semapv:UnspecifiedMatching -OMIM:610307 CERK skos:exactMatch ncbigene:64781 semapv:UnspecifiedMatching -OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:20207 semapv:UnspecifiedMatching -OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:B3GLCT semapv:UnspecifiedMatching -OMIM:610308 B3GLCT skos:exactMatch ncbigene:145173 semapv:UnspecifiedMatching -OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:17895 semapv:UnspecifiedMatching -OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:UBE2S semapv:UnspecifiedMatching -OMIM:610309 UBE2S skos:exactMatch ncbigene:27338 semapv:UnspecifiedMatching -OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:43619 semapv:UnspecifiedMatching -OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:MGAT4D semapv:UnspecifiedMatching -OMIM:610310 MGAT4D skos:exactMatch ncbigene:152586 semapv:UnspecifiedMatching -OMIM:610311 MED28 skos:exactMatch hgnc.symbol:24628 semapv:UnspecifiedMatching -OMIM:610311 MED28 skos:exactMatch hgnc.symbol:MED28 semapv:UnspecifiedMatching -OMIM:610311 MED28 skos:exactMatch ncbigene:80306 semapv:UnspecifiedMatching -OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:17644 semapv:UnspecifiedMatching -OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:PIWIL2 semapv:UnspecifiedMatching -OMIM:610312 PIWIL2 skos:exactMatch ncbigene:55124 semapv:UnspecifiedMatching -OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching -OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch UMLS:C1853198 semapv:UnspecifiedMatching -OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:18443 semapv:UnspecifiedMatching -OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:PIWIL3 semapv:UnspecifiedMatching -OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch ncbigene:440822 semapv:UnspecifiedMatching -OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:18444 semapv:UnspecifiedMatching -OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:PIWIL4 semapv:UnspecifiedMatching -OMIM:610315 PIWIL4 skos:exactMatch ncbigene:143689 semapv:UnspecifiedMatching -OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:23166 semapv:UnspecifiedMatching -OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:PNPT1 semapv:UnspecifiedMatching -OMIM:610316 PNPT1 skos:exactMatch ncbigene:87178 semapv:UnspecifiedMatching -OMIM:610317 COBL skos:exactMatch hgnc.symbol:22199 semapv:UnspecifiedMatching -OMIM:610317 COBL skos:exactMatch hgnc.symbol:COBL semapv:UnspecifiedMatching -OMIM:610317 COBL skos:exactMatch ncbigene:23242 semapv:UnspecifiedMatching -OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc.symbol:23571 semapv:UnspecifiedMatching -OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc.symbol:COBLL1 semapv:UnspecifiedMatching -OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch ncbigene:22837 semapv:UnspecifiedMatching -OMIM:610320 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching -OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:18273 semapv:UnspecifiedMatching -OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:TRERF1 semapv:UnspecifiedMatching -OMIM:610322 TRERF1 skos:exactMatch ncbigene:55809 semapv:UnspecifiedMatching -OMIM:610323 MTDH skos:exactMatch hgnc.symbol:29608 semapv:UnspecifiedMatching -OMIM:610323 MTDH skos:exactMatch hgnc.symbol:MTDH semapv:UnspecifiedMatching -OMIM:610323 MTDH skos:exactMatch ncbigene:92140 semapv:UnspecifiedMatching -OMIM:610324 OXSM skos:exactMatch hgnc.symbol:26063 semapv:UnspecifiedMatching -OMIM:610324 OXSM skos:exactMatch hgnc.symbol:OXSM semapv:UnspecifiedMatching -OMIM:610324 OXSM skos:exactMatch ncbigene:54995 semapv:UnspecifiedMatching -OMIM:610325 NUDC skos:exactMatch hgnc.symbol:8045 semapv:UnspecifiedMatching -OMIM:610325 NUDC skos:exactMatch hgnc.symbol:NUDC semapv:UnspecifiedMatching -OMIM:610325 NUDC skos:exactMatch ncbigene:10726 semapv:UnspecifiedMatching -OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:25671 semapv:UnspecifiedMatching -OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:RNASEH2B semapv:UnspecifiedMatching -OMIM:610326 RNASEH2B skos:exactMatch ncbigene:79621 semapv:UnspecifiedMatching -OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:19760 semapv:UnspecifiedMatching -OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:RUFY1 semapv:UnspecifiedMatching -OMIM:610327 RUFY1 skos:exactMatch ncbigene:80230 semapv:UnspecifiedMatching -OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:19761 semapv:UnspecifiedMatching -OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:RUFY2 semapv:UnspecifiedMatching -OMIM:610328 RUFY2 skos:exactMatch ncbigene:55680 semapv:UnspecifiedMatching -OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:24116 semapv:UnspecifiedMatching -OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:RNASEH2C semapv:UnspecifiedMatching -OMIM:610330 RNASEH2C skos:exactMatch ncbigene:84153 semapv:UnspecifiedMatching -OMIM:610331 HES6 skos:exactMatch UMLS:C1425399 semapv:UnspecifiedMatching -OMIM:610331 HES6 skos:exactMatch hgnc.symbol:18254 semapv:UnspecifiedMatching -OMIM:610331 HES6 skos:exactMatch hgnc.symbol:HES6 semapv:UnspecifiedMatching -OMIM:610331 HES6 skos:exactMatch ncbigene:55502 semapv:UnspecifiedMatching -OMIM:610334 TMEM176A skos:exactMatch hgnc.symbol:24930 semapv:UnspecifiedMatching -OMIM:610334 TMEM176A skos:exactMatch hgnc.symbol:TMEM176A semapv:UnspecifiedMatching -OMIM:610334 TMEM176A skos:exactMatch ncbigene:55365 semapv:UnspecifiedMatching -OMIM:610335 PHF20 skos:exactMatch hgnc.symbol:16098 semapv:UnspecifiedMatching -OMIM:610335 PHF20 skos:exactMatch hgnc.symbol:PHF20 semapv:UnspecifiedMatching -OMIM:610335 PHF20 skos:exactMatch ncbigene:51230 semapv:UnspecifiedMatching -OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:29417 semapv:UnspecifiedMatching -OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:C2CD4C semapv:UnspecifiedMatching -OMIM:610336 C2CD4C skos:exactMatch ncbigene:126567 semapv:UnspecifiedMatching -OMIM:610337 URGCP skos:exactMatch hgnc.symbol:30890 semapv:UnspecifiedMatching -OMIM:610337 URGCP skos:exactMatch hgnc.symbol:URGCP semapv:UnspecifiedMatching -OMIM:610337 URGCP skos:exactMatch ncbigene:55665 semapv:UnspecifiedMatching -OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:19316 semapv:UnspecifiedMatching -OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:P3H1 semapv:UnspecifiedMatching -OMIM:610339 P3H1 skos:exactMatch ncbigene:64175 semapv:UnspecifiedMatching -OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:19818 semapv:UnspecifiedMatching -OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:EPB41L4B semapv:UnspecifiedMatching -OMIM:610340 EPB41L4B skos:exactMatch ncbigene:54566 semapv:UnspecifiedMatching -OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:19317 semapv:UnspecifiedMatching -OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:P3H2 semapv:UnspecifiedMatching -OMIM:610341 P3H2 skos:exactMatch ncbigene:55214 semapv:UnspecifiedMatching -OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:19318 semapv:UnspecifiedMatching -OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:P3H3 semapv:UnspecifiedMatching -OMIM:610342 P3H3 skos:exactMatch ncbigene:10536 semapv:UnspecifiedMatching -OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:33627 semapv:UnspecifiedMatching -OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:C2CD4A semapv:UnspecifiedMatching -OMIM:610343 C2CD4A skos:exactMatch ncbigene:145741 semapv:UnspecifiedMatching -OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:33628 semapv:UnspecifiedMatching -OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:C2CD4B semapv:UnspecifiedMatching -OMIM:610344 C2CD4B skos:exactMatch ncbigene:388125 semapv:UnspecifiedMatching -OMIM:610345 AGK skos:exactMatch hgnc.symbol:21869 semapv:UnspecifiedMatching -OMIM:610345 AGK skos:exactMatch hgnc.symbol:AGK semapv:UnspecifiedMatching -OMIM:610345 AGK skos:exactMatch ncbigene:55750 semapv:UnspecifiedMatching -OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:17179 semapv:UnspecifiedMatching -OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:CDC37L1 semapv:UnspecifiedMatching -OMIM:610346 CDC37L1 skos:exactMatch ncbigene:55664 semapv:UnspecifiedMatching -OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:25560 semapv:UnspecifiedMatching -OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:RPRD1A semapv:UnspecifiedMatching -OMIM:610347 RPRD1A skos:exactMatch ncbigene:55197 semapv:UnspecifiedMatching -OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:17814 semapv:UnspecifiedMatching -OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:SLF2 semapv:UnspecifiedMatching -OMIM:610348 SLF2 skos:exactMatch ncbigene:55719 semapv:UnspecifiedMatching -OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:26689 semapv:UnspecifiedMatching -OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:MAMSTR semapv:UnspecifiedMatching -OMIM:610349 MAMSTR skos:exactMatch ncbigene:284358 semapv:UnspecifiedMatching -OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:30922 semapv:UnspecifiedMatching -OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:LINS1 semapv:UnspecifiedMatching -OMIM:610350 LINS1 skos:exactMatch ncbigene:55180 semapv:UnspecifiedMatching -OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:20219 semapv:UnspecifiedMatching -OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:PPP4R3A semapv:UnspecifiedMatching -OMIM:610351 PPP4R3A skos:exactMatch ncbigene:55671 semapv:UnspecifiedMatching -OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:29267 semapv:UnspecifiedMatching -OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:PPP4R3B semapv:UnspecifiedMatching -OMIM:610352 PPP4R3B skos:exactMatch ncbigene:57223 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch UMLS:C1425035 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:17686 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:RIC1 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch ncbigene:57589 semapv:UnspecifiedMatching -OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:26144 semapv:UnspecifiedMatching -OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:PALB2 semapv:UnspecifiedMatching -OMIM:610355 PALB2 skos:exactMatch ncbigene:79728 semapv:UnspecifiedMatching -OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch Orphanet:101010 semapv:UnspecifiedMatching -OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching -OMIM:610358 SPCS1 skos:exactMatch UMLS:C1539816 semapv:UnspecifiedMatching -OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:23401 semapv:UnspecifiedMatching -OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:SPCS1 semapv:UnspecifiedMatching -OMIM:610358 SPCS1 skos:exactMatch ncbigene:28972 semapv:UnspecifiedMatching -OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:23282 semapv:UnspecifiedMatching -OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:MUC20 semapv:UnspecifiedMatching -OMIM:610360 MUC20 skos:exactMatch ncbigene:200958 semapv:UnspecifiedMatching -OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:18286 semapv:UnspecifiedMatching -OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:RAX2 semapv:UnspecifiedMatching -OMIM:610362 RAX2 skos:exactMatch ncbigene:84839 semapv:UnspecifiedMatching -OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:20449 semapv:UnspecifiedMatching -OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:PADI6 semapv:UnspecifiedMatching -OMIM:610363 PADI6 skos:exactMatch ncbigene:353238 semapv:UnspecifiedMatching -OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:23410 semapv:UnspecifiedMatching -OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:TMBIM1 semapv:UnspecifiedMatching -OMIM:610364 TMBIM1 skos:exactMatch ncbigene:64114 semapv:UnspecifiedMatching -OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:14324 semapv:UnspecifiedMatching -OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:C1QTNF1 semapv:UnspecifiedMatching -OMIM:610365 C1QTNF1 skos:exactMatch ncbigene:114897 semapv:UnspecifiedMatching -OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:569 semapv:UnspecifiedMatching -OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:AP3M1 semapv:UnspecifiedMatching -OMIM:610366 AP3M1 skos:exactMatch ncbigene:26985 semapv:UnspecifiedMatching -OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:14239 semapv:UnspecifiedMatching -OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:SLC2A11 semapv:UnspecifiedMatching -OMIM:610367 SLC2A11 skos:exactMatch ncbigene:66035 semapv:UnspecifiedMatching -OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:20309 semapv:UnspecifiedMatching -OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:LRCH1 semapv:UnspecifiedMatching -OMIM:610368 LRCH1 skos:exactMatch ncbigene:23143 semapv:UnspecifiedMatching -OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:29526 semapv:UnspecifiedMatching -OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:HSPA14 semapv:UnspecifiedMatching -OMIM:610369 HSPA14 skos:exactMatch ncbigene:51182 semapv:UnspecifiedMatching -OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:13445 semapv:UnspecifiedMatching -OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:SLC2A7 semapv:UnspecifiedMatching -OMIM:610371 SLC2A7 skos:exactMatch ncbigene:155184 semapv:UnspecifiedMatching -OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:18067 semapv:UnspecifiedMatching -OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:SLC2A12 semapv:UnspecifiedMatching -OMIM:610372 SLC2A12 skos:exactMatch ncbigene:154091 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch UMLS:C1425165 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:17906 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:DDX50 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch ncbigene:79009 semapv:UnspecifiedMatching -OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching -OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching -OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:21259 semapv:UnspecifiedMatching -OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:CAPRIN2 semapv:UnspecifiedMatching -OMIM:610375 CAPRIN2 skos:exactMatch ncbigene:65981 semapv:UnspecifiedMatching -OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:23692 semapv:UnspecifiedMatching -OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:ACKR3 semapv:UnspecifiedMatching -OMIM:610376 ACKR3 skos:exactMatch ncbigene:57007 semapv:UnspecifiedMatching -OMIM:610377 mevalonic aciduria skos:exactMatch Orphanet:29 semapv:UnspecifiedMatching -OMIM:610377 mevalonic aciduria skos:exactMatch UMLS:C1959626 semapv:UnspecifiedMatching -OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:29525 semapv:UnspecifiedMatching -OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:GLIS1 semapv:UnspecifiedMatching -OMIM:610378 GLIS1 skos:exactMatch ncbigene:148979 semapv:UnspecifiedMatching -OMIM:610383 RASSF9 skos:exactMatch hgnc.symbol:15739 semapv:UnspecifiedMatching -OMIM:610383 RASSF9 skos:exactMatch hgnc.symbol:RASSF9 semapv:UnspecifiedMatching -OMIM:610383 RASSF9 skos:exactMatch ncbigene:9182 semapv:UnspecifiedMatching -OMIM:610384 HECW1 skos:exactMatch hgnc.symbol:22195 semapv:UnspecifiedMatching -OMIM:610384 HECW1 skos:exactMatch hgnc.symbol:HECW1 semapv:UnspecifiedMatching -OMIM:610384 HECW1 skos:exactMatch ncbigene:23072 semapv:UnspecifiedMatching -OMIM:610385 LR8 skos:exactMatch hgnc.symbol:29596 semapv:UnspecifiedMatching -OMIM:610385 LR8 skos:exactMatch hgnc.symbol:TMEM176B semapv:UnspecifiedMatching -OMIM:610385 LR8 skos:exactMatch ncbigene:28959 semapv:UnspecifiedMatching -OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:18269 semapv:UnspecifiedMatching -OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:BTBD7 semapv:UnspecifiedMatching -OMIM:610386 BTBD7 skos:exactMatch ncbigene:55727 semapv:UnspecifiedMatching -OMIM:610387 SLC25A37 skos:exactMatch UMLS:C1835863 semapv:UnspecifiedMatching -OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:29786 semapv:UnspecifiedMatching -OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:SLC25A37 semapv:UnspecifiedMatching -OMIM:610387 SLC25A37 skos:exactMatch ncbigene:51312 semapv:UnspecifiedMatching -OMIM:610388 REM1 skos:exactMatch UMLS:C1538825 semapv:UnspecifiedMatching -OMIM:610388 REM1 skos:exactMatch hgnc.symbol:15922 semapv:UnspecifiedMatching -OMIM:610388 REM1 skos:exactMatch hgnc.symbol:REM1 semapv:UnspecifiedMatching -OMIM:610388 REM1 skos:exactMatch ncbigene:28954 semapv:UnspecifiedMatching -OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:29796 semapv:UnspecifiedMatching -OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:LAMTOR2 semapv:UnspecifiedMatching -OMIM:610389 LAMTOR2 skos:exactMatch ncbigene:28956 semapv:UnspecifiedMatching -OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:29619 semapv:UnspecifiedMatching -OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:MPEG1 semapv:UnspecifiedMatching -OMIM:610390 MPEG1 skos:exactMatch ncbigene:219972 semapv:UnspecifiedMatching -OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:23497 semapv:UnspecifiedMatching -OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:PLPPR3 semapv:UnspecifiedMatching -OMIM:610391 PLPPR3 skos:exactMatch ncbigene:79948 semapv:UnspecifiedMatching -OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:23386 semapv:UnspecifiedMatching -OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:MYCBP2 semapv:UnspecifiedMatching -OMIM:610392 MYCBP2 skos:exactMatch ncbigene:23077 semapv:UnspecifiedMatching -OMIM:610393 GON4L skos:exactMatch hgnc.symbol:25973 semapv:UnspecifiedMatching -OMIM:610393 GON4L skos:exactMatch hgnc.symbol:GON4L semapv:UnspecifiedMatching -OMIM:610393 GON4L skos:exactMatch ncbigene:54856 semapv:UnspecifiedMatching -OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:28592 semapv:UnspecifiedMatching -OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:GLIPR1L2 semapv:UnspecifiedMatching -OMIM:610394 GLIPR1L2 skos:exactMatch ncbigene:144321 semapv:UnspecifiedMatching -OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:28392 semapv:UnspecifiedMatching -OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:GLIPR1L1 semapv:UnspecifiedMatching -OMIM:610395 GLIPR1L1 skos:exactMatch ncbigene:256710 semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C1427890 semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:23069 semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:TRAPPC6A semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch ncbigene:79090 semapv:UnspecifiedMatching -OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:23066 semapv:UnspecifiedMatching -OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:TRAPPC6B semapv:UnspecifiedMatching -OMIM:610397 TRAPPC6B skos:exactMatch ncbigene:122553 semapv:UnspecifiedMatching -OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:25663 semapv:UnspecifiedMatching -OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:SAP30L semapv:UnspecifiedMatching -OMIM:610398 SAP30L skos:exactMatch ncbigene:79685 semapv:UnspecifiedMatching -OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:24465 semapv:UnspecifiedMatching -OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:TMPRSS11E semapv:UnspecifiedMatching -OMIM:610399 TMPRSS11E skos:exactMatch ncbigene:28983 semapv:UnspecifiedMatching -OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:29598 semapv:UnspecifiedMatching -OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:MACROD1 semapv:UnspecifiedMatching -OMIM:610400 MACROD1 skos:exactMatch ncbigene:28992 semapv:UnspecifiedMatching -OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:13658 semapv:UnspecifiedMatching -OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:NTN4 semapv:UnspecifiedMatching -OMIM:610401 NTN4 skos:exactMatch ncbigene:59277 semapv:UnspecifiedMatching -OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:30689 semapv:UnspecifiedMatching -OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:CAND2 semapv:UnspecifiedMatching -OMIM:610403 CAND2 skos:exactMatch ncbigene:23066 semapv:UnspecifiedMatching -OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:25764 semapv:UnspecifiedMatching -OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:RMI1 semapv:UnspecifiedMatching -OMIM:610404 RMI1 skos:exactMatch ncbigene:80010 semapv:UnspecifiedMatching -OMIM:610405 CHPF skos:exactMatch hgnc.symbol:24291 semapv:UnspecifiedMatching -OMIM:610405 CHPF skos:exactMatch hgnc.symbol:CHPF semapv:UnspecifiedMatching -OMIM:610405 CHPF skos:exactMatch ncbigene:79586 semapv:UnspecifiedMatching -OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:12343 semapv:UnspecifiedMatching -OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:TRR-TCT2-1 semapv:UnspecifiedMatching -OMIM:610406 TRR-TCT2-1 skos:exactMatch ncbigene:7230 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch UMLS:C1421118 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:12273 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:TRG-GCC2-6 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch ncbigene:7196 semapv:UnspecifiedMatching -OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:18068 semapv:UnspecifiedMatching -OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:SLC15A3 semapv:UnspecifiedMatching -OMIM:610408 SLC15A3 skos:exactMatch ncbigene:51296 semapv:UnspecifiedMatching -OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:16270 semapv:UnspecifiedMatching -OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:SLC16A8 semapv:UnspecifiedMatching -OMIM:610409 SLC16A8 skos:exactMatch ncbigene:23539 semapv:UnspecifiedMatching -OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:16445 semapv:UnspecifiedMatching -OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:DHRS1 semapv:UnspecifiedMatching -OMIM:610410 DHRS1 skos:exactMatch ncbigene:115817 semapv:UnspecifiedMatching -OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:16853 semapv:UnspecifiedMatching -OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:IPO13 semapv:UnspecifiedMatching -OMIM:610411 IPO13 skos:exactMatch ncbigene:9670 semapv:UnspecifiedMatching -OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:24045 semapv:UnspecifiedMatching -OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:SPTSSB semapv:UnspecifiedMatching -OMIM:610412 SPTSSB skos:exactMatch ncbigene:165679 semapv:UnspecifiedMatching -OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:20081 semapv:UnspecifiedMatching -OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:IGFBPL1 semapv:UnspecifiedMatching -OMIM:610413 IGFBPL1 skos:exactMatch ncbigene:347252 semapv:UnspecifiedMatching -OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:28791 semapv:UnspecifiedMatching -OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:NBPF15 semapv:UnspecifiedMatching -OMIM:610414 NBPF15 skos:exactMatch ncbigene:284565 semapv:UnspecifiedMatching -OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:19694 semapv:UnspecifiedMatching -OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:STXBP4 semapv:UnspecifiedMatching -OMIM:610415 STXBP4 skos:exactMatch ncbigene:252983 semapv:UnspecifiedMatching -OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:10566 semapv:UnspecifiedMatching -OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:SCAND1 semapv:UnspecifiedMatching -OMIM:610416 SCAND1 skos:exactMatch ncbigene:51282 semapv:UnspecifiedMatching -OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:10567 semapv:UnspecifiedMatching -OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:SCAND2P semapv:UnspecifiedMatching -OMIM:610417 SCAND2 skos:exactMatch ncbigene:54581 semapv:UnspecifiedMatching -OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:20482 semapv:UnspecifiedMatching -OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:WDFY2 semapv:UnspecifiedMatching -OMIM:610418 WDFY2 skos:exactMatch ncbigene:115825 semapv:UnspecifiedMatching -OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:18117 semapv:UnspecifiedMatching -OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:KHDRBS3 semapv:UnspecifiedMatching -OMIM:610421 KHDRBS3 skos:exactMatch ncbigene:10656 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch UMLS:C1538564 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:23794 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:PACS2 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch ncbigene:23241 semapv:UnspecifiedMatching -OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching -OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching -OMIM:610428 COX18 skos:exactMatch hgnc.symbol:26801 semapv:UnspecifiedMatching -OMIM:610428 COX18 skos:exactMatch hgnc.symbol:COX18 semapv:UnspecifiedMatching -OMIM:610428 COX18 skos:exactMatch ncbigene:285521 semapv:UnspecifiedMatching -OMIM:610429 COX19 skos:exactMatch hgnc.symbol:28074 semapv:UnspecifiedMatching -OMIM:610429 COX19 skos:exactMatch hgnc.symbol:COX19 semapv:UnspecifiedMatching -OMIM:610429 COX19 skos:exactMatch ncbigene:90639 semapv:UnspecifiedMatching -OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:24544 semapv:UnspecifiedMatching -OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:RNF167 semapv:UnspecifiedMatching -OMIM:610431 RNF167 skos:exactMatch ncbigene:26001 semapv:UnspecifiedMatching -OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:21150 semapv:UnspecifiedMatching -OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:RNF125 semapv:UnspecifiedMatching -OMIM:610432 RNF125 skos:exactMatch ncbigene:54941 semapv:UnspecifiedMatching -OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:13931 semapv:UnspecifiedMatching -OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:LY6G5B semapv:UnspecifiedMatching -OMIM:610433 LY6G5B skos:exactMatch ncbigene:58496 semapv:UnspecifiedMatching -OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:13932 semapv:UnspecifiedMatching -OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:LY6G5C semapv:UnspecifiedMatching -OMIM:610434 LY6G5C skos:exactMatch ncbigene:80741 semapv:UnspecifiedMatching -OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:13936 semapv:UnspecifiedMatching -OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:LY6G6C semapv:UnspecifiedMatching -OMIM:610435 LY6G6C skos:exactMatch ncbigene:80740 semapv:UnspecifiedMatching -OMIM:610436 RTTN skos:exactMatch hgnc.symbol:18654 semapv:UnspecifiedMatching -OMIM:610436 RTTN skos:exactMatch hgnc.symbol:RTTN semapv:UnspecifiedMatching -OMIM:610436 RTTN skos:exactMatch ncbigene:25914 semapv:UnspecifiedMatching -OMIM:610437 LY6G6E skos:exactMatch UMLS:C1422282 semapv:UnspecifiedMatching -OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:13934 semapv:UnspecifiedMatching -OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:LY6G6E semapv:UnspecifiedMatching -OMIM:610437 LY6G6E skos:exactMatch ncbigene:79136 semapv:UnspecifiedMatching -OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:25228 semapv:UnspecifiedMatching -OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:SGSM3 semapv:UnspecifiedMatching -OMIM:610440 SGSM3 skos:exactMatch ncbigene:27352 semapv:UnspecifiedMatching -OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:363958 semapv:UnspecifiedMatching -OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:96169 semapv:UnspecifiedMatching -OMIM:610443 koolen-de vries syndrome skos:exactMatch UMLS:C1864871 semapv:UnspecifiedMatching -OMIM:610447 SPRN skos:exactMatch hgnc.symbol:16871 semapv:UnspecifiedMatching -OMIM:610447 SPRN skos:exactMatch hgnc.symbol:SPRN semapv:UnspecifiedMatching -OMIM:610447 SPRN skos:exactMatch ncbigene:503542 semapv:UnspecifiedMatching -OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:17586 semapv:UnspecifiedMatching -OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:MTCH1 semapv:UnspecifiedMatching -OMIM:610449 MTCH1 skos:exactMatch ncbigene:23787 semapv:UnspecifiedMatching -OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:28431 semapv:UnspecifiedMatching -OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:LYPD1 semapv:UnspecifiedMatching -OMIM:610450 LYPD1 skos:exactMatch ncbigene:116372 semapv:UnspecifiedMatching -OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:28115 semapv:UnspecifiedMatching -OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:TBCEL semapv:UnspecifiedMatching -OMIM:610451 LRRC35 skos:exactMatch ncbigene:219899 semapv:UnspecifiedMatching -OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:26527 semapv:UnspecifiedMatching -OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:HGSNAT semapv:UnspecifiedMatching -OMIM:610453 HGSNAT skos:exactMatch ncbigene:138050 semapv:UnspecifiedMatching -OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:29381 semapv:UnspecifiedMatching -OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:LZTS2 semapv:UnspecifiedMatching -OMIM:610454 LZTS2 skos:exactMatch ncbigene:84445 semapv:UnspecifiedMatching -OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:306658 semapv:UnspecifiedMatching -OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching -OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C1539722 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:1348 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:SAMD9 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch ncbigene:54809 semapv:UnspecifiedMatching -OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:32949 semapv:UnspecifiedMatching -OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:SMPD4 semapv:UnspecifiedMatching -OMIM:610457 SMPD4 skos:exactMatch ncbigene:55627 semapv:UnspecifiedMatching -OMIM:610458 LZIC skos:exactMatch hgnc.symbol:17497 semapv:UnspecifiedMatching -OMIM:610458 LZIC skos:exactMatch hgnc.symbol:LZIC semapv:UnspecifiedMatching -OMIM:610458 LZIC skos:exactMatch ncbigene:84328 semapv:UnspecifiedMatching -OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:24528 semapv:UnspecifiedMatching -OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:PRR13 semapv:UnspecifiedMatching -OMIM:610459 PRR13 skos:exactMatch ncbigene:54458 semapv:UnspecifiedMatching -OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:21329 semapv:UnspecifiedMatching -OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:RTN4RL1 semapv:UnspecifiedMatching -OMIM:610461 RTN4RL1 skos:exactMatch ncbigene:146760 semapv:UnspecifiedMatching -OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:23053 semapv:UnspecifiedMatching -OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:RTN4RL2 semapv:UnspecifiedMatching -OMIM:610462 RTN4RL2 skos:exactMatch ncbigene:349667 semapv:UnspecifiedMatching -OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:21042 semapv:UnspecifiedMatching -OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:NUS1 semapv:UnspecifiedMatching -OMIM:610463 NUS1 skos:exactMatch ncbigene:116150 semapv:UnspecifiedMatching -OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:20844 semapv:UnspecifiedMatching -OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:GPR156 semapv:UnspecifiedMatching -OMIM:610464 GPR156 skos:exactMatch ncbigene:165829 semapv:UnspecifiedMatching -OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:26101 semapv:UnspecifiedMatching -OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:ACSF2 semapv:UnspecifiedMatching -OMIM:610465 ACSF2 skos:exactMatch ncbigene:80221 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch UMLS:C1537580 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:18581 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:LIX1 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch ncbigene:167410 semapv:UnspecifiedMatching -OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:9639 semapv:UnspecifiedMatching -OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:HACD1 semapv:UnspecifiedMatching -OMIM:610467 HACD1 skos:exactMatch ncbigene:9200 semapv:UnspecifiedMatching -OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:16938 semapv:UnspecifiedMatching -OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:IFI44 semapv:UnspecifiedMatching -OMIM:610468 IFI44 skos:exactMatch ncbigene:10561 semapv:UnspecifiedMatching -OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:570 semapv:UnspecifiedMatching -OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:AP3M2 semapv:UnspecifiedMatching -OMIM:610469 AP3M2 skos:exactMatch ncbigene:10947 semapv:UnspecifiedMatching -OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:20316 semapv:UnspecifiedMatching -OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:TRPT1 semapv:UnspecifiedMatching -OMIM:610470 TRPT1 skos:exactMatch ncbigene:83707 semapv:UnspecifiedMatching -OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:25723 semapv:UnspecifiedMatching -OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:VASH2 semapv:UnspecifiedMatching -OMIM:610471 VASH2 skos:exactMatch ncbigene:79805 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:25718 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:LPCAT1 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch ncbigene:79888 semapv:UnspecifiedMatching -OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:28985 semapv:UnspecifiedMatching -OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:LPGAT1 semapv:UnspecifiedMatching -OMIM:610473 LPGAT1 skos:exactMatch ncbigene:9926 semapv:UnspecifiedMatching -OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:30079 semapv:UnspecifiedMatching -OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:TMPRSS9 semapv:UnspecifiedMatching -OMIM:610477 TMPRSS9 skos:exactMatch ncbigene:360200 semapv:UnspecifiedMatching -OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:26333 semapv:UnspecifiedMatching -OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:SRFBP1 semapv:UnspecifiedMatching -OMIM:610479 SRFBP1 skos:exactMatch ncbigene:153443 semapv:UnspecifiedMatching -OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:18725 semapv:UnspecifiedMatching -OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:LEMD1 semapv:UnspecifiedMatching -OMIM:610480 LEMD1 skos:exactMatch ncbigene:93273 semapv:UnspecifiedMatching -OMIM:610481 SHD skos:exactMatch hgnc.symbol:30633 semapv:UnspecifiedMatching -OMIM:610481 SHD skos:exactMatch hgnc.symbol:SHD semapv:UnspecifiedMatching -OMIM:610481 SHD skos:exactMatch ncbigene:56961 semapv:UnspecifiedMatching -OMIM:610482 SHE skos:exactMatch hgnc.symbol:27004 semapv:UnspecifiedMatching -OMIM:610482 SHE skos:exactMatch hgnc.symbol:SHE semapv:UnspecifiedMatching -OMIM:610482 SHE skos:exactMatch ncbigene:126669 semapv:UnspecifiedMatching -OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:30139 semapv:UnspecifiedMatching -OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:LZTS3 semapv:UnspecifiedMatching -OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch ncbigene:9762 semapv:UnspecifiedMatching -OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:6662 semapv:UnspecifiedMatching -OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:LINC00312 semapv:UnspecifiedMatching -OMIM:610485 LINC00312 skos:exactMatch ncbigene:29931 semapv:UnspecifiedMatching -OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:15586 semapv:UnspecifiedMatching -OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:LRRC4 semapv:UnspecifiedMatching -OMIM:610486 LRRC4 skos:exactMatch ncbigene:64101 semapv:UnspecifiedMatching -OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:18114 semapv:UnspecifiedMatching -OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:KHDRBS2 semapv:UnspecifiedMatching -OMIM:610487 KHDRBS2 skos:exactMatch ncbigene:202559 semapv:UnspecifiedMatching -OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:20267 semapv:UnspecifiedMatching -OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:TTC9 semapv:UnspecifiedMatching -OMIM:610488 TTC9 skos:exactMatch ncbigene:23508 semapv:UnspecifiedMatching -OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:33781 semapv:UnspecifiedMatching -OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:ACP7 semapv:UnspecifiedMatching -OMIM:610490 purple acid phosphatase, long form skos:exactMatch ncbigene:390928 semapv:UnspecifiedMatching -OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:26387 semapv:UnspecifiedMatching -OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:SLAIN1 semapv:UnspecifiedMatching -OMIM:610491 SLAIN1 skos:exactMatch ncbigene:122060 semapv:UnspecifiedMatching -OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:29282 semapv:UnspecifiedMatching -OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:SLAIN2 semapv:UnspecifiedMatching -OMIM:610492 SLAIN2 skos:exactMatch ncbigene:57606 semapv:UnspecifiedMatching -OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:23695 semapv:UnspecifiedMatching -OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:DIXDC1 semapv:UnspecifiedMatching -OMIM:610493 DIXDC1 skos:exactMatch ncbigene:85458 semapv:UnspecifiedMatching -OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:30002 semapv:UnspecifiedMatching -OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:DCAF6 semapv:UnspecifiedMatching -OMIM:610494 DCAF6 skos:exactMatch ncbigene:55827 semapv:UnspecifiedMatching -OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:24970 semapv:UnspecifiedMatching -OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:IFFO1 semapv:UnspecifiedMatching -OMIM:610495 IFFO1 skos:exactMatch ncbigene:25900 semapv:UnspecifiedMatching -OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:30207 semapv:UnspecifiedMatching -OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:ARHGAP29 semapv:UnspecifiedMatching -OMIM:610496 ARHGAP29 skos:exactMatch ncbigene:9411 semapv:UnspecifiedMatching -OMIM:610497 BRE skos:exactMatch hgnc.symbol:1106 semapv:UnspecifiedMatching -OMIM:610497 BRE skos:exactMatch hgnc.symbol:BABAM2 semapv:UnspecifiedMatching -OMIM:610497 BRE skos:exactMatch ncbigene:9577 semapv:UnspecifiedMatching -OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:20655 semapv:UnspecifiedMatching -OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:RAPGEF6 semapv:UnspecifiedMatching -OMIM:610499 RAPGEF6 skos:exactMatch ncbigene:51735 semapv:UnspecifiedMatching -OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:24714 semapv:UnspecifiedMatching -OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:ANKHD1 semapv:UnspecifiedMatching -OMIM:610500 ANKHD1 skos:exactMatch ncbigene:54882 semapv:UnspecifiedMatching -OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:26088 semapv:UnspecifiedMatching -OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:NBPF1 semapv:UnspecifiedMatching -OMIM:610501 NBPF1 skos:exactMatch ncbigene:55672 semapv:UnspecifiedMatching -OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:18647 semapv:UnspecifiedMatching -OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:RTN4IP1 semapv:UnspecifiedMatching -OMIM:610502 RTN4IP1 skos:exactMatch ncbigene:84816 semapv:UnspecifiedMatching -OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:13234 semapv:UnspecifiedMatching -OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:CDIP1 semapv:UnspecifiedMatching -OMIM:610503 CDIP1 skos:exactMatch ncbigene:29965 semapv:UnspecifiedMatching -OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:25459 semapv:UnspecifiedMatching -OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:PAF1 semapv:UnspecifiedMatching -OMIM:610506 PAF1 skos:exactMatch ncbigene:54623 semapv:UnspecifiedMatching -OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:30401 semapv:UnspecifiedMatching -OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:LEO1 semapv:UnspecifiedMatching -OMIM:610507 LEO1 skos:exactMatch ncbigene:123169 semapv:UnspecifiedMatching -OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:30338 semapv:UnspecifiedMatching -OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:RIC3 semapv:UnspecifiedMatching -OMIM:610509 RIC3 skos:exactMatch ncbigene:79608 semapv:UnspecifiedMatching -OMIM:610510 BORA skos:exactMatch hgnc.symbol:24724 semapv:UnspecifiedMatching -OMIM:610510 BORA skos:exactMatch hgnc.symbol:BORA semapv:UnspecifiedMatching -OMIM:610510 BORA skos:exactMatch ncbigene:79866 semapv:UnspecifiedMatching -OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:10701 semapv:UnspecifiedMatching -OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:SEC23A semapv:UnspecifiedMatching -OMIM:610511 SEC23A skos:exactMatch ncbigene:10484 semapv:UnspecifiedMatching -OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:10702 semapv:UnspecifiedMatching -OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:SEC23B semapv:UnspecifiedMatching -OMIM:610512 SEC23B skos:exactMatch ncbigene:10483 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1540215 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:30213 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:ATP13A2 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch ncbigene:23400 semapv:UnspecifiedMatching -OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:30027 semapv:UnspecifiedMatching -OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:JADE1 semapv:UnspecifiedMatching -OMIM:610514 PHF17 skos:exactMatch ncbigene:79960 semapv:UnspecifiedMatching -OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:22984 semapv:UnspecifiedMatching -OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:JADE2 semapv:UnspecifiedMatching -OMIM:610515 PHF15 skos:exactMatch ncbigene:23338 semapv:UnspecifiedMatching -OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:24247 semapv:UnspecifiedMatching -OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:GLYCTK semapv:UnspecifiedMatching -OMIM:610516 GLYCTK skos:exactMatch ncbigene:132158 semapv:UnspecifiedMatching -OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:13834 semapv:UnspecifiedMatching -OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:CNTNAP3 semapv:UnspecifiedMatching -OMIM:610517 CNTNAP3 skos:exactMatch ncbigene:79937 semapv:UnspecifiedMatching -OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:18747 semapv:UnspecifiedMatching -OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:CNTNAP4 semapv:UnspecifiedMatching -OMIM:610518 CNTNAP4 skos:exactMatch ncbigene:85445 semapv:UnspecifiedMatching -OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:18748 semapv:UnspecifiedMatching -OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:CNTNAP5 semapv:UnspecifiedMatching -OMIM:610519 CNTNAP5 skos:exactMatch ncbigene:129684 semapv:UnspecifiedMatching -OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:30455 semapv:UnspecifiedMatching -OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:CD300LG semapv:UnspecifiedMatching -OMIM:610520 CD300LG skos:exactMatch ncbigene:146894 semapv:UnspecifiedMatching -OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:14678 semapv:UnspecifiedMatching -OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:KCTD12 semapv:UnspecifiedMatching -OMIM:610521 KCTD12 skos:exactMatch ncbigene:115207 semapv:UnspecifiedMatching -OMIM:610522 coordinated expression to irxa2 skos:exactMatch hgnc.symbol:IRX2-DT semapv:UnspecifiedMatching -OMIM:610522 coordinated expression to irxa2 skos:exactMatch ncbigene:153571 semapv:UnspecifiedMatching -OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:12370 semapv:UnspecifiedMatching -OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:CEP41 semapv:UnspecifiedMatching -OMIM:610523 CEP41 skos:exactMatch ncbigene:95681 semapv:UnspecifiedMatching -OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:33823 semapv:UnspecifiedMatching -OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:ERVFRD-1 semapv:UnspecifiedMatching -OMIM:610524 ERVFRD1 skos:exactMatch ncbigene:405754 semapv:UnspecifiedMatching -OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:17819 semapv:UnspecifiedMatching -OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:NT5C1A semapv:UnspecifiedMatching -OMIM:610525 NT5C1A skos:exactMatch ncbigene:84618 semapv:UnspecifiedMatching -OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:17818 semapv:UnspecifiedMatching -OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:NT5C1B semapv:UnspecifiedMatching -OMIM:610526 NT5C1B skos:exactMatch ncbigene:93034 semapv:UnspecifiedMatching -OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:15487 semapv:UnspecifiedMatching -OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:TMX1 semapv:UnspecifiedMatching -OMIM:610527 TXNDC1 skos:exactMatch ncbigene:81542 semapv:UnspecifiedMatching -OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:20153 semapv:UnspecifiedMatching -OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:CHD8 semapv:UnspecifiedMatching -OMIM:610528 CHD8 skos:exactMatch ncbigene:57680 semapv:UnspecifiedMatching -OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:31010 semapv:UnspecifiedMatching -OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:TUSC1 semapv:UnspecifiedMatching -OMIM:610529 TUSC1 skos:exactMatch ncbigene:286319 semapv:UnspecifiedMatching -OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:19013 semapv:UnspecifiedMatching -OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:TRIM41 semapv:UnspecifiedMatching -OMIM:610530 TRIM41 skos:exactMatch ncbigene:90933 semapv:UnspecifiedMatching -OMIM:610531 HYCC1 skos:exactMatch hgnc.symbol:HYCC1 semapv:UnspecifiedMatching -OMIM:610531 HYCC1 skos:exactMatch ncbigene:84668 semapv:UnspecifiedMatching -OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:29435 semapv:UnspecifiedMatching -OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:WWC1 semapv:UnspecifiedMatching -OMIM:610533 WWC1 skos:exactMatch ncbigene:23286 semapv:UnspecifiedMatching -OMIM:610534 DCPS skos:exactMatch hgnc.symbol:29812 semapv:UnspecifiedMatching -OMIM:610534 DCPS skos:exactMatch hgnc.symbol:DCPS semapv:UnspecifiedMatching -OMIM:610534 DCPS skos:exactMatch ncbigene:28960 semapv:UnspecifiedMatching -OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:14892 semapv:UnspecifiedMatching -OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:DPP7 semapv:UnspecifiedMatching -OMIM:610537 DPP7 skos:exactMatch ncbigene:29952 semapv:UnspecifiedMatching -OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:25009 semapv:UnspecifiedMatching -OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:UBE2T semapv:UnspecifiedMatching -OMIM:610538 UBE2T skos:exactMatch ncbigene:29089 semapv:UnspecifiedMatching -OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:24872 semapv:UnspecifiedMatching -OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:GNAS-AS1 semapv:UnspecifiedMatching -OMIM:610540 GNASAS1 skos:exactMatch ncbigene:149775 semapv:UnspecifiedMatching -OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:14942 semapv:UnspecifiedMatching -OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:PPP1R3B semapv:UnspecifiedMatching -OMIM:610541 PPP1R3B skos:exactMatch ncbigene:79660 semapv:UnspecifiedMatching -OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:24093 semapv:UnspecifiedMatching -OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:IGFL1 semapv:UnspecifiedMatching -OMIM:610544 IGFL1 skos:exactMatch ncbigene:374918 semapv:UnspecifiedMatching -OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:32929 semapv:UnspecifiedMatching -OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:IGFL2 semapv:UnspecifiedMatching -OMIM:610545 IGFL2 skos:exactMatch ncbigene:147920 semapv:UnspecifiedMatching -OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:32930 semapv:UnspecifiedMatching -OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:IGFL3 semapv:UnspecifiedMatching -OMIM:610546 IGFL3 skos:exactMatch ncbigene:388555 semapv:UnspecifiedMatching -OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:32931 semapv:UnspecifiedMatching -OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:IGFL4 semapv:UnspecifiedMatching -OMIM:610547 IGFL4 skos:exactMatch ncbigene:444882 semapv:UnspecifiedMatching -OMIM:610548 AQR skos:exactMatch hgnc.symbol:29513 semapv:UnspecifiedMatching -OMIM:610548 AQR skos:exactMatch hgnc.symbol:AQR semapv:UnspecifiedMatching -OMIM:610548 AQR skos:exactMatch ncbigene:9716 semapv:UnspecifiedMatching -OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:6903 semapv:UnspecifiedMatching -OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:MAT1A semapv:UnspecifiedMatching -OMIM:610550 MAT1A skos:exactMatch ncbigene:4143 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch UMLS:C1428004 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch UMLS:C4310699 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:23230 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:UBA5 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch ncbigene:79876 semapv:UnspecifiedMatching -OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:20597 semapv:UnspecifiedMatching -OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:UFM1 semapv:UnspecifiedMatching -OMIM:610553 UFM1 skos:exactMatch ncbigene:51569 semapv:UnspecifiedMatching -OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:26941 semapv:UnspecifiedMatching -OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:UFC1 semapv:UnspecifiedMatching -OMIM:610554 UFC1 skos:exactMatch ncbigene:51506 semapv:UnspecifiedMatching -OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:24337 semapv:UnspecifiedMatching -OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:C1GALT1 semapv:UnspecifiedMatching -OMIM:610555 C1GALT1 skos:exactMatch ncbigene:56913 semapv:UnspecifiedMatching -OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:33117 semapv:UnspecifiedMatching -OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:HAR1A semapv:UnspecifiedMatching -OMIM:610556 HAR1A skos:exactMatch ncbigene:768096 semapv:UnspecifiedMatching -OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:33118 semapv:UnspecifiedMatching -OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:HAR1B semapv:UnspecifiedMatching -OMIM:610557 HAR1B skos:exactMatch ncbigene:768097 semapv:UnspecifiedMatching -OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:18752 semapv:UnspecifiedMatching -OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:MAPKAP1 semapv:UnspecifiedMatching -OMIM:610558 MAPKAP1 skos:exactMatch ncbigene:79109 semapv:UnspecifiedMatching -OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:20793 semapv:UnspecifiedMatching -OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:RASSF4 semapv:UnspecifiedMatching -OMIM:610559 RASSF4 skos:exactMatch ncbigene:83937 semapv:UnspecifiedMatching -OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:26906 semapv:UnspecifiedMatching -OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:PRSS36 semapv:UnspecifiedMatching -OMIM:610560 PRSS36 skos:exactMatch ncbigene:146547 semapv:UnspecifiedMatching -OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:34407 semapv:UnspecifiedMatching -OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:PRSS53 semapv:UnspecifiedMatching -OMIM:610561 PRSS53 skos:exactMatch ncbigene:339105 semapv:UnspecifiedMatching -OMIM:610562 ZC3H12A skos:exactMatch UMLS:C1823924 semapv:UnspecifiedMatching -OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:26259 semapv:UnspecifiedMatching -OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:ZC3H12A semapv:UnspecifiedMatching -OMIM:610562 ZC3H12A skos:exactMatch ncbigene:80149 semapv:UnspecifiedMatching -OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:6399 semapv:UnspecifiedMatching -OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:KPNA6 semapv:UnspecifiedMatching -OMIM:610563 KPNA6 skos:exactMatch ncbigene:23633 semapv:UnspecifiedMatching -OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:23041 semapv:UnspecifiedMatching -OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:PDSS2 semapv:UnspecifiedMatching -OMIM:610564 PDSS2 skos:exactMatch ncbigene:57107 semapv:UnspecifiedMatching -OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:2955 semapv:UnspecifiedMatching -OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:DNAL4 semapv:UnspecifiedMatching -OMIM:610565 DNAL4 skos:exactMatch ncbigene:10126 semapv:UnspecifiedMatching -OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:31533 semapv:UnspecifiedMatching -OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:MIR146A semapv:UnspecifiedMatching -OMIM:610566 MIR146A skos:exactMatch ncbigene:406938 semapv:UnspecifiedMatching -OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:32079 semapv:UnspecifiedMatching -OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:MIR146B semapv:UnspecifiedMatching -OMIM:610567 MIR146B skos:exactMatch ncbigene:574447 semapv:UnspecifiedMatching -OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:29277 semapv:UnspecifiedMatching -OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:ZNF687 semapv:UnspecifiedMatching -OMIM:610568 ZNF687 skos:exactMatch ncbigene:57592 semapv:UnspecifiedMatching -OMIM:610569 USP24 skos:exactMatch hgnc.symbol:12623 semapv:UnspecifiedMatching -OMIM:610569 USP24 skos:exactMatch hgnc.symbol:USP24 semapv:UnspecifiedMatching -OMIM:610569 USP24 skos:exactMatch ncbigene:23358 semapv:UnspecifiedMatching -OMIM:610570 USP40 skos:exactMatch hgnc.symbol:20069 semapv:UnspecifiedMatching -OMIM:610570 USP40 skos:exactMatch hgnc.symbol:USP40 semapv:UnspecifiedMatching -OMIM:610570 USP40 skos:exactMatch ncbigene:55230 semapv:UnspecifiedMatching -OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:18624 semapv:UnspecifiedMatching -OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:FKBP11 semapv:UnspecifiedMatching -OMIM:610571 FKBP11 skos:exactMatch ncbigene:51303 semapv:UnspecifiedMatching -OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:26401 semapv:UnspecifiedMatching -OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:MARVELD2 semapv:UnspecifiedMatching -OMIM:610572 MARVELD2 skos:exactMatch ncbigene:153562 semapv:UnspecifiedMatching -OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:16175 semapv:UnspecifiedMatching -OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:RSPO4 semapv:UnspecifiedMatching -OMIM:610573 RSPO4 skos:exactMatch ncbigene:343637 semapv:UnspecifiedMatching -OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:20866 semapv:UnspecifiedMatching -OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:RSPO3 semapv:UnspecifiedMatching -OMIM:610574 RSPO3 skos:exactMatch ncbigene:84870 semapv:UnspecifiedMatching -OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:28583 semapv:UnspecifiedMatching -OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:RSPO2 semapv:UnspecifiedMatching -OMIM:610575 RSPO2 skos:exactMatch ncbigene:340419 semapv:UnspecifiedMatching -OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:14130 semapv:UnspecifiedMatching -OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:ARHGAP9 semapv:UnspecifiedMatching -OMIM:610576 ARHGAP9 skos:exactMatch ncbigene:64333 semapv:UnspecifiedMatching -OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:16348 semapv:UnspecifiedMatching -OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:ARHGAP12 semapv:UnspecifiedMatching -OMIM:610577 ARHGAP12 skos:exactMatch ncbigene:94134 semapv:UnspecifiedMatching -OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:21030 semapv:UnspecifiedMatching -OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:ARHGAP15 semapv:UnspecifiedMatching -OMIM:610578 ARHGAP15 skos:exactMatch ncbigene:55843 semapv:UnspecifiedMatching -OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:28310 semapv:UnspecifiedMatching -OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:RCSD1 semapv:UnspecifiedMatching -OMIM:610579 RCSD1 skos:exactMatch ncbigene:92241 semapv:UnspecifiedMatching -OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:19310 semapv:UnspecifiedMatching -OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:PIM3 semapv:UnspecifiedMatching -OMIM:610580 PIM3 skos:exactMatch ncbigene:415116 semapv:UnspecifiedMatching -OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:2238 semapv:UnspecifiedMatching -OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:COPG2IT1 semapv:UnspecifiedMatching -OMIM:610581 COPG2IT1 skos:exactMatch ncbigene:53844 semapv:UnspecifiedMatching -OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching -OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching -OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:17280 semapv:UnspecifiedMatching -OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:ANKRD6 semapv:UnspecifiedMatching -OMIM:610583 ANKRD6 skos:exactMatch ncbigene:22881 semapv:UnspecifiedMatching -OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:31859 semapv:UnspecifiedMatching -OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:TRIM67 semapv:UnspecifiedMatching -OMIM:610584 TRIM67 skos:exactMatch ncbigene:440730 semapv:UnspecifiedMatching -OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:30320 semapv:UnspecifiedMatching -OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:ARHGAP22 semapv:UnspecifiedMatching -OMIM:610585 ARHGAP22 skos:exactMatch ncbigene:58504 semapv:UnspecifiedMatching -OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:25361 semapv:UnspecifiedMatching -OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:ARHGAP24 semapv:UnspecifiedMatching -OMIM:610586 ARHGAP24 skos:exactMatch ncbigene:83478 semapv:UnspecifiedMatching -OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:28951 semapv:UnspecifiedMatching -OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:ARHGAP25 semapv:UnspecifiedMatching -OMIM:610587 ARHGAP25 skos:exactMatch ncbigene:9938 semapv:UnspecifiedMatching -OMIM:610588 DDN skos:exactMatch hgnc.symbol:24458 semapv:UnspecifiedMatching -OMIM:610588 DDN skos:exactMatch hgnc.symbol:DDN semapv:UnspecifiedMatching -OMIM:610588 DDN skos:exactMatch ncbigene:23109 semapv:UnspecifiedMatching -OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:15783 semapv:UnspecifiedMatching -OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:ARHGAP11A semapv:UnspecifiedMatching -OMIM:610589 ARHGAP11A skos:exactMatch ncbigene:9824 semapv:UnspecifiedMatching -OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:29293 semapv:UnspecifiedMatching -OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:ARHGAP23 semapv:UnspecifiedMatching -OMIM:610590 ARHGAP23 skos:exactMatch ncbigene:57636 semapv:UnspecifiedMatching -OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:31813 semapv:UnspecifiedMatching -OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:ARHGAP27 semapv:UnspecifiedMatching -OMIM:610591 ARHGAP27 skos:exactMatch ncbigene:201176 semapv:UnspecifiedMatching -OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:25509 semapv:UnspecifiedMatching -OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:ARHGAP28 semapv:UnspecifiedMatching -OMIM:610592 ARHGAP28 skos:exactMatch ncbigene:79822 semapv:UnspecifiedMatching -OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:25753 semapv:UnspecifiedMatching -OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:MAP6D1 semapv:UnspecifiedMatching -OMIM:610593 MAP6D1 skos:exactMatch ncbigene:79929 semapv:UnspecifiedMatching -OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:29418 semapv:UnspecifiedMatching -OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:FNIP1 semapv:UnspecifiedMatching -OMIM:610594 FNIP1 skos:exactMatch ncbigene:96459 semapv:UnspecifiedMatching -OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:24671 semapv:UnspecifiedMatching -OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:FLAD1 semapv:UnspecifiedMatching -OMIM:610595 FLAD1 skos:exactMatch ncbigene:80308 semapv:UnspecifiedMatching -OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:15519 semapv:UnspecifiedMatching -OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:BOP1 semapv:UnspecifiedMatching -OMIM:610596 BOP1 skos:exactMatch ncbigene:23246 semapv:UnspecifiedMatching -OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:21270 semapv:UnspecifiedMatching -OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:GRWD1 semapv:UnspecifiedMatching -OMIM:610597 GRWD1 skos:exactMatch ncbigene:83743 semapv:UnspecifiedMatching -OMIM:610598 PRCD skos:exactMatch hgnc.symbol:32528 semapv:UnspecifiedMatching -OMIM:610598 PRCD skos:exactMatch hgnc.symbol:PRCD semapv:UnspecifiedMatching -OMIM:610598 PRCD skos:exactMatch ncbigene:768206 semapv:UnspecifiedMatching -OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:20453 semapv:UnspecifiedMatching -OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:KLK15 semapv:UnspecifiedMatching -OMIM:610601 KLK15 skos:exactMatch ncbigene:55554 semapv:UnspecifiedMatching -OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:32487 semapv:UnspecifiedMatching -OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:ALKBH2 semapv:UnspecifiedMatching -OMIM:610602 ALKBH2 skos:exactMatch ncbigene:121642 semapv:UnspecifiedMatching -OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:30141 semapv:UnspecifiedMatching -OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:ALKBH3 semapv:UnspecifiedMatching -OMIM:610603 ALKBH3 skos:exactMatch ncbigene:221120 semapv:UnspecifiedMatching -OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:16343 semapv:UnspecifiedMatching -OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:KIR3DP1 semapv:UnspecifiedMatching -OMIM:610604 KIR3DP1 skos:exactMatch ncbigene:548594 semapv:UnspecifiedMatching -OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:21745 semapv:UnspecifiedMatching -OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:CPEB2 semapv:UnspecifiedMatching -OMIM:610605 CPEB2 skos:exactMatch ncbigene:132864 semapv:UnspecifiedMatching -OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:21746 semapv:UnspecifiedMatching -OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:CPEB3 semapv:UnspecifiedMatching -OMIM:610606 CPEB3 skos:exactMatch ncbigene:22849 semapv:UnspecifiedMatching -OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:21747 semapv:UnspecifiedMatching -OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:CPEB4 semapv:UnspecifiedMatching -OMIM:610607 CPEB4 skos:exactMatch ncbigene:80315 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch UMLS:C1825347 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch UMLS:C4693356 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:28980 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:GINS1 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch ncbigene:9837 semapv:UnspecifiedMatching -OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:24575 semapv:UnspecifiedMatching -OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:GINS2 semapv:UnspecifiedMatching -OMIM:610609 GINS2 skos:exactMatch ncbigene:51659 semapv:UnspecifiedMatching -OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:25851 semapv:UnspecifiedMatching -OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:GINS3 semapv:UnspecifiedMatching -OMIM:610610 GINS3 skos:exactMatch ncbigene:64785 semapv:UnspecifiedMatching -OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:28226 semapv:UnspecifiedMatching -OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:GINS4 semapv:UnspecifiedMatching -OMIM:610611 GINS4 skos:exactMatch ncbigene:84296 semapv:UnspecifiedMatching -OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:2591 semapv:UnspecifiedMatching -OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:CYP11B1 semapv:UnspecifiedMatching -OMIM:610613 CYP11B1 skos:exactMatch ncbigene:1584 semapv:UnspecifiedMatching -OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:29551 semapv:UnspecifiedMatching -OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:TBRG1 semapv:UnspecifiedMatching -OMIM:610614 TBRG1 skos:exactMatch ncbigene:84897 semapv:UnspecifiedMatching -OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:24703 semapv:UnspecifiedMatching -OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:RABL6 semapv:UnspecifiedMatching -OMIM:610615 RABL6 skos:exactMatch ncbigene:55684 semapv:UnspecifiedMatching -OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:29135 semapv:UnspecifiedMatching -OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:ANKRD12 semapv:UnspecifiedMatching -OMIM:610616 ANKRD12 skos:exactMatch ncbigene:23253 semapv:UnspecifiedMatching -OMIM:610617 DTL skos:exactMatch UMLS:C1824983 semapv:UnspecifiedMatching -OMIM:610617 DTL skos:exactMatch hgnc.symbol:30288 semapv:UnspecifiedMatching -OMIM:610617 DTL skos:exactMatch hgnc.symbol:DTL semapv:UnspecifiedMatching -OMIM:610617 DTL skos:exactMatch ncbigene:51514 semapv:UnspecifiedMatching -OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:100054 semapv:UnspecifiedMatching -OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching -OMIM:610618 angioedema, hereditary, 3 skos:exactMatch UMLS:C1857728 semapv:UnspecifiedMatching -OMIM:610619 F12 skos:exactMatch hgnc.symbol:3530 semapv:UnspecifiedMatching -OMIM:610619 F12 skos:exactMatch hgnc.symbol:F12 semapv:UnspecifiedMatching -OMIM:610619 F12 skos:exactMatch ncbigene:2161 semapv:UnspecifiedMatching -OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:21303 semapv:UnspecifiedMatching -OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:ADPRHL1 semapv:UnspecifiedMatching -OMIM:610620 ADPRHL1 skos:exactMatch ncbigene:113622 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C1825613 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C4693640 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch UMLS:C4694024 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch hgnc.symbol:29239 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch hgnc.symbol:INTU semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch ncbigene:27152 semapv:UnspecifiedMatching -OMIM:610622 FUZ skos:exactMatch UMLS:C1825324 semapv:UnspecifiedMatching -OMIM:610622 FUZ skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching -OMIM:610622 FUZ skos:exactMatch hgnc.symbol:26219 semapv:UnspecifiedMatching -OMIM:610622 FUZ skos:exactMatch hgnc.symbol:FUZ semapv:UnspecifiedMatching -OMIM:610622 FUZ skos:exactMatch ncbigene:80199 semapv:UnspecifiedMatching -OMIM:610623 cataract 11, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:610623 cataract 11, multiple types skos:exactMatch UMLS:C1864567 semapv:UnspecifiedMatching -OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:21304 semapv:UnspecifiedMatching -OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:ADPRS semapv:UnspecifiedMatching -OMIM:610624 ADPRHL2 skos:exactMatch ncbigene:54936 semapv:UnspecifiedMatching -OMIM:610625 ART5 skos:exactMatch hgnc.symbol:24049 semapv:UnspecifiedMatching -OMIM:610625 ART5 skos:exactMatch hgnc.symbol:ART5 semapv:UnspecifiedMatching -OMIM:610625 ART5 skos:exactMatch ncbigene:116969 semapv:UnspecifiedMatching -OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:25026 semapv:UnspecifiedMatching -OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:PLPP5 semapv:UnspecifiedMatching -OMIM:610626 PLPP5 skos:exactMatch ncbigene:84513 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch UMLS:C1825487 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch UMLS:C1833692 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch hgnc.symbol:23336 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch hgnc.symbol:A2ML1 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch ncbigene:144568 semapv:UnspecifiedMatching -OMIM:610630 PTPN20 skos:exactMatch hgnc.symbol:23423 semapv:UnspecifiedMatching -OMIM:610630 PTPN20 skos:exactMatch hgnc.symbol:PTPN20 semapv:UnspecifiedMatching -OMIM:610630 PTPN20 skos:exactMatch ncbigene:26095 semapv:UnspecifiedMatching -OMIM:610632 MICU2 skos:exactMatch UMLS:C1539331 semapv:UnspecifiedMatching -OMIM:610632 MICU2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610632 MICU2 skos:exactMatch hgnc.symbol:31830 semapv:UnspecifiedMatching -OMIM:610632 MICU2 skos:exactMatch hgnc.symbol:MICU2 semapv:UnspecifiedMatching -OMIM:610632 MICU2 skos:exactMatch ncbigene:221154 semapv:UnspecifiedMatching -OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:27820 semapv:UnspecifiedMatching -OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:MICU3 semapv:UnspecifiedMatching -OMIM:610633 MICU3 skos:exactMatch ncbigene:286097 semapv:UnspecifiedMatching -OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:18831 semapv:UnspecifiedMatching -OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:CTHRC1 semapv:UnspecifiedMatching -OMIM:610635 CTHRC1 skos:exactMatch ncbigene:115908 semapv:UnspecifiedMatching -OMIM:610636 MIR27B skos:exactMatch UMLS:C1537730 semapv:UnspecifiedMatching -OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:31614 semapv:UnspecifiedMatching -OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:MIR27B semapv:UnspecifiedMatching -OMIM:610636 MIR27B skos:exactMatch ncbigene:407019 semapv:UnspecifiedMatching -OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:26025 semapv:UnspecifiedMatching -OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:MARCHF5 semapv:UnspecifiedMatching -OMIM:610637 MARCHF5 skos:exactMatch ncbigene:54708 semapv:UnspecifiedMatching -OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:5952 semapv:UnspecifiedMatching -OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:IGSF5 semapv:UnspecifiedMatching -OMIM:610638 IGSF5 skos:exactMatch ncbigene:150084 semapv:UnspecifiedMatching -OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:18464 semapv:UnspecifiedMatching -OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:GRID2IP semapv:UnspecifiedMatching -OMIM:610639 GRID2IP1 skos:exactMatch ncbigene:392862 semapv:UnspecifiedMatching -OMIM:610640 YTHDF2 skos:exactMatch UMLS:C1538134 semapv:UnspecifiedMatching -OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:31675 semapv:UnspecifiedMatching -OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:YTHDF2 semapv:UnspecifiedMatching -OMIM:610640 YTHDF2 skos:exactMatch ncbigene:51441 semapv:UnspecifiedMatching -OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:26184 semapv:UnspecifiedMatching -OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:TUT1 semapv:UnspecifiedMatching -OMIM:610641 TUT1 skos:exactMatch ncbigene:64852 semapv:UnspecifiedMatching -OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:26495 semapv:UnspecifiedMatching -OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:ERP27 semapv:UnspecifiedMatching -OMIM:610642 ERP27 skos:exactMatch ncbigene:121506 semapv:UnspecifiedMatching -OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:29302 semapv:UnspecifiedMatching -OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:CIP2A semapv:UnspecifiedMatching -OMIM:610643 CIP2A skos:exactMatch ncbigene:57650 semapv:UnspecifiedMatching -OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:24580 semapv:UnspecifiedMatching -OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:CIB3 semapv:UnspecifiedMatching -OMIM:610645 CIB3 skos:exactMatch ncbigene:117286 semapv:UnspecifiedMatching -OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:33703 semapv:UnspecifiedMatching -OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:CIB4 semapv:UnspecifiedMatching -OMIM:610646 CIB4 skos:exactMatch ncbigene:130106 semapv:UnspecifiedMatching -OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:26742 semapv:UnspecifiedMatching -OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:NAT8L semapv:UnspecifiedMatching -OMIM:610647 NAT8L skos:exactMatch ncbigene:339983 semapv:UnspecifiedMatching -OMIM:610648 CUX2 skos:exactMatch UMLS:C1426179 semapv:UnspecifiedMatching -OMIM:610648 CUX2 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching -OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:19347 semapv:UnspecifiedMatching -OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:CUX2 semapv:UnspecifiedMatching -OMIM:610648 CUX2 skos:exactMatch ncbigene:23316 semapv:UnspecifiedMatching -OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:15759 semapv:UnspecifiedMatching -OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:ADRM1 semapv:UnspecifiedMatching -OMIM:610650 ADRM1 skos:exactMatch ncbigene:11047 semapv:UnspecifiedMatching -OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:8772 semapv:UnspecifiedMatching -OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:PDE10A semapv:UnspecifiedMatching -OMIM:610652 PDE10A skos:exactMatch ncbigene:10846 semapv:UnspecifiedMatching -OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:18785 semapv:UnspecifiedMatching -OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:RRP1 semapv:UnspecifiedMatching -OMIM:610653 RRP1 skos:exactMatch ncbigene:8568 semapv:UnspecifiedMatching -OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:23818 semapv:UnspecifiedMatching -OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:RRP1B semapv:UnspecifiedMatching -OMIM:610654 RRP1B skos:exactMatch ncbigene:23076 semapv:UnspecifiedMatching -OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:33238 semapv:UnspecifiedMatching -OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:KYAT3 semapv:UnspecifiedMatching -OMIM:610656 CCBL2 skos:exactMatch ncbigene:56267 semapv:UnspecifiedMatching -OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:28984 semapv:UnspecifiedMatching -OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:WASHC5 semapv:UnspecifiedMatching -OMIM:610657 WASHC5 skos:exactMatch ncbigene:9897 semapv:UnspecifiedMatching -OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:17274 semapv:UnspecifiedMatching -OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:TRIM29 semapv:UnspecifiedMatching -OMIM:610658 TRIM29 skos:exactMatch ncbigene:23650 semapv:UnspecifiedMatching -OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:4575 semapv:UnspecifiedMatching -OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:GRID1 semapv:UnspecifiedMatching -OMIM:610659 GRID1 skos:exactMatch ncbigene:2894 semapv:UnspecifiedMatching -OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:24434 semapv:UnspecifiedMatching -OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:GLYR1 semapv:UnspecifiedMatching -OMIM:610660 GLYR1 skos:exactMatch ncbigene:84656 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch UMLS:C1425023 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:17646 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:NGLY1 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch ncbigene:55768 semapv:UnspecifiedMatching -OMIM:610662 PIGY skos:exactMatch hgnc.symbol:28213 semapv:UnspecifiedMatching -OMIM:610662 PIGY skos:exactMatch hgnc.symbol:PIGY semapv:UnspecifiedMatching -OMIM:610662 PIGY skos:exactMatch ncbigene:84992 semapv:UnspecifiedMatching -OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:20982 semapv:UnspecifiedMatching -OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:SMYD2 semapv:UnspecifiedMatching -OMIM:610663 SMYD2 skos:exactMatch ncbigene:56950 semapv:UnspecifiedMatching -OMIM:610664 BLTP2 skos:exactMatch hgnc.symbol:BLTP2 semapv:UnspecifiedMatching -OMIM:610664 BLTP2 skos:exactMatch ncbigene:9703 semapv:UnspecifiedMatching -OMIM:610665 FCGR3B skos:exactMatch UMLS:C1414556 semapv:UnspecifiedMatching -OMIM:610665 FCGR3B skos:exactMatch UMLS:C4017227 semapv:UnspecifiedMatching -OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:3620 semapv:UnspecifiedMatching -OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:FCGR3B semapv:UnspecifiedMatching -OMIM:610665 FCGR3B skos:exactMatch ncbigene:2215 semapv:UnspecifiedMatching -OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:16229 semapv:UnspecifiedMatching -OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:NRSN2 semapv:UnspecifiedMatching -OMIM:610666 NRSN2 skos:exactMatch ncbigene:80023 semapv:UnspecifiedMatching -OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:19678 semapv:UnspecifiedMatching -OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:UCHL5 semapv:UnspecifiedMatching -OMIM:610667 UCHL5 skos:exactMatch ncbigene:51377 semapv:UnspecifiedMatching -OMIM:610668 INSC skos:exactMatch UMLS:C1825602 semapv:UnspecifiedMatching -OMIM:610668 INSC skos:exactMatch hgnc.symbol:33116 semapv:UnspecifiedMatching -OMIM:610668 INSC skos:exactMatch hgnc.symbol:INSC semapv:UnspecifiedMatching -OMIM:610668 INSC skos:exactMatch ncbigene:387755 semapv:UnspecifiedMatching -OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:19118 semapv:UnspecifiedMatching -OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:TNIP2 semapv:UnspecifiedMatching -OMIM:610669 TNIP2 skos:exactMatch ncbigene:79155 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch UMLS:C1427016 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch UMLS:C3539507 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:20582 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:CYP2U1 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch ncbigene:113612 semapv:UnspecifiedMatching -OMIM:610671 ZNF628 skos:exactMatch UMLS:C1538207 semapv:UnspecifiedMatching -OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:28054 semapv:UnspecifiedMatching -OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:ZNF628 semapv:UnspecifiedMatching -OMIM:610671 ZNF628 skos:exactMatch ncbigene:89887 semapv:UnspecifiedMatching -OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:20967 semapv:UnspecifiedMatching -OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:NACC1 semapv:UnspecifiedMatching -OMIM:610672 NACC1 skos:exactMatch ncbigene:112939 semapv:UnspecifiedMatching -OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:25446 semapv:UnspecifiedMatching -OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:NAIF1 semapv:UnspecifiedMatching -OMIM:610673 NAIF1 skos:exactMatch ncbigene:203245 semapv:UnspecifiedMatching -OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:15874 semapv:UnspecifiedMatching -OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:SPEF1 semapv:UnspecifiedMatching -OMIM:610674 SPEF1 skos:exactMatch ncbigene:25876 semapv:UnspecifiedMatching -OMIM:610675 USE1 skos:exactMatch hgnc.symbol:30882 semapv:UnspecifiedMatching -OMIM:610675 USE1 skos:exactMatch hgnc.symbol:USE1 semapv:UnspecifiedMatching -OMIM:610675 USE1 skos:exactMatch ncbigene:55850 semapv:UnspecifiedMatching -OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:24489 semapv:UnspecifiedMatching -OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:LSM14A semapv:UnspecifiedMatching -OMIM:610677 LSM14A skos:exactMatch ncbigene:26065 semapv:UnspecifiedMatching -OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:8883 semapv:UnspecifiedMatching -OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:CDK14 semapv:UnspecifiedMatching -OMIM:610679 CDK14 skos:exactMatch ncbigene:5218 semapv:UnspecifiedMatching -OMIM:610681 PFKM skos:exactMatch hgnc.symbol:8877 semapv:UnspecifiedMatching -OMIM:610681 PFKM skos:exactMatch hgnc.symbol:PFKM semapv:UnspecifiedMatching -OMIM:610681 PFKM skos:exactMatch ncbigene:5213 semapv:UnspecifiedMatching -OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:26648 semapv:UnspecifiedMatching -OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:BBS12 semapv:UnspecifiedMatching -OMIM:610683 BBS12 skos:exactMatch ncbigene:166379 semapv:UnspecifiedMatching -OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:19085 semapv:UnspecifiedMatching -OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:CTDNEP1 semapv:UnspecifiedMatching -OMIM:610684 CTDNEP1 skos:exactMatch ncbigene:23399 semapv:UnspecifiedMatching -OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:27035 semapv:UnspecifiedMatching -OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:UBXN2B semapv:UnspecifiedMatching -OMIM:610686 UBXN2B skos:exactMatch ncbigene:137886 semapv:UnspecifiedMatching -OMIM:610687 nemaline myopathy 7 skos:exactMatch Orphanet:171436 semapv:UnspecifiedMatching -OMIM:610687 nemaline myopathy 7 skos:exactMatch UMLS:C1853154 semapv:UnspecifiedMatching -OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:35152 semapv:UnspecifiedMatching -OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:PAPPA-AS1 semapv:UnspecifiedMatching -OMIM:610689 dipla1, antisense skos:exactMatch ncbigene:493913 semapv:UnspecifiedMatching -OMIM:610690 HIBCH skos:exactMatch UMLS:C0342738 semapv:UnspecifiedMatching -OMIM:610690 HIBCH skos:exactMatch UMLS:C1415543 semapv:UnspecifiedMatching -OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:4908 semapv:UnspecifiedMatching -OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:HIBCH semapv:UnspecifiedMatching -OMIM:610690 HIBCH skos:exactMatch ncbigene:26275 semapv:UnspecifiedMatching -OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:25209 semapv:UnspecifiedMatching -OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:PRUNE2 semapv:UnspecifiedMatching -OMIM:610691 PRUNE2 skos:exactMatch ncbigene:158471 semapv:UnspecifiedMatching -OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:5249 semapv:UnspecifiedMatching -OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:HSPB7 semapv:UnspecifiedMatching -OMIM:610692 HSPB7 skos:exactMatch ncbigene:27129 semapv:UnspecifiedMatching -OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:26558 semapv:UnspecifiedMatching -OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:HYLS1 semapv:UnspecifiedMatching -OMIM:610693 HYLS1 skos:exactMatch ncbigene:219844 semapv:UnspecifiedMatching -OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:13568 semapv:UnspecifiedMatching -OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:PGPEP1 semapv:UnspecifiedMatching -OMIM:610694 PGPEP1 skos:exactMatch ncbigene:54858 semapv:UnspecifiedMatching -OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:26511 semapv:UnspecifiedMatching -OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:HSPB6 semapv:UnspecifiedMatching -OMIM:610695 HSPB6 skos:exactMatch ncbigene:126393 semapv:UnspecifiedMatching -OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:28961 semapv:UnspecifiedMatching -OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:PCLAF semapv:UnspecifiedMatching -OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch ncbigene:9768 semapv:UnspecifiedMatching -OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:18486 semapv:UnspecifiedMatching -OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:PDZD2 semapv:UnspecifiedMatching -OMIM:610697 PDZD2 skos:exactMatch ncbigene:23037 semapv:UnspecifiedMatching -OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:28073 semapv:UnspecifiedMatching -OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:ZFAND2A semapv:UnspecifiedMatching -OMIM:610699 ZFAND2A skos:exactMatch ncbigene:90637 semapv:UnspecifiedMatching -OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:26909 semapv:UnspecifiedMatching -OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:HTRA4 semapv:UnspecifiedMatching -OMIM:610700 HTRA4 skos:exactMatch ncbigene:203100 semapv:UnspecifiedMatching -OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:19022 semapv:UnspecifiedMatching -OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:HSPA12A semapv:UnspecifiedMatching -OMIM:610701 HSPA12A skos:exactMatch ncbigene:259217 semapv:UnspecifiedMatching -OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:16193 semapv:UnspecifiedMatching -OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:HSPA12B semapv:UnspecifiedMatching -OMIM:610702 HSPA12B skos:exactMatch ncbigene:116835 semapv:UnspecifiedMatching -OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:16969 semapv:UnspecifiedMatching -OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:HSPH1 semapv:UnspecifiedMatching -OMIM:610703 HSPH1 skos:exactMatch ncbigene:10808 semapv:UnspecifiedMatching -OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:30306 semapv:UnspecifiedMatching -OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:PHB2 semapv:UnspecifiedMatching -OMIM:610704 PHB2 skos:exactMatch ncbigene:11331 semapv:UnspecifiedMatching -OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:30811 semapv:UnspecifiedMatching -OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:CD300LB semapv:UnspecifiedMatching -OMIM:610705 CD300LB skos:exactMatch ncbigene:124599 semapv:UnspecifiedMatching -OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:14968 semapv:UnspecifiedMatching -OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:TSSK1B semapv:UnspecifiedMatching -OMIM:610709 TSSK1 skos:exactMatch ncbigene:83942 semapv:UnspecifiedMatching -OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:11401 semapv:UnspecifiedMatching -OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:TSSK2 semapv:UnspecifiedMatching -OMIM:610710 TSSK2 skos:exactMatch ncbigene:23617 semapv:UnspecifiedMatching -OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:19825 semapv:UnspecifiedMatching -OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:TSSK4 semapv:UnspecifiedMatching -OMIM:610711 TSSK4 skos:exactMatch ncbigene:283629 semapv:UnspecifiedMatching -OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:30410 semapv:UnspecifiedMatching -OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:TSSK6 semapv:UnspecifiedMatching -OMIM:610712 TSSK6 skos:exactMatch ncbigene:83983 semapv:UnspecifiedMatching -OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:17999 semapv:UnspecifiedMatching -OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:PKN3 semapv:UnspecifiedMatching -OMIM:610714 PKN3 skos:exactMatch ncbigene:29941 semapv:UnspecifiedMatching -OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:17509 semapv:UnspecifiedMatching -OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:HEMGN semapv:UnspecifiedMatching -OMIM:610715 HEMGN skos:exactMatch ncbigene:55363 semapv:UnspecifiedMatching -OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:30750 semapv:UnspecifiedMatching -OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:TIPIN semapv:UnspecifiedMatching -OMIM:610716 TIPIN skos:exactMatch ncbigene:54962 semapv:UnspecifiedMatching -OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:31566 semapv:UnspecifiedMatching -OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:MIR195 semapv:UnspecifiedMatching -OMIM:610718 MIR195 skos:exactMatch ncbigene:406971 semapv:UnspecifiedMatching -OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:31571 semapv:UnspecifiedMatching -OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:MIR199A1 semapv:UnspecifiedMatching -OMIM:610719 MIR199A1 skos:exactMatch ncbigene:406976 semapv:UnspecifiedMatching -OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:31572 semapv:UnspecifiedMatching -OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:MIR199A2 semapv:UnspecifiedMatching -OMIM:610720 MIR199A2 skos:exactMatch ncbigene:406977 semapv:UnspecifiedMatching -OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:31591 semapv:UnspecifiedMatching -OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:MIR214 semapv:UnspecifiedMatching -OMIM:610721 MIR214 skos:exactMatch ncbigene:406996 semapv:UnspecifiedMatching -OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:31606 semapv:UnspecifiedMatching -OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:MIR23B semapv:UnspecifiedMatching -OMIM:610723 MIR23B skos:exactMatch ncbigene:407011 semapv:UnspecifiedMatching -OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:31608 semapv:UnspecifiedMatching -OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:MIR24-2 semapv:UnspecifiedMatching -OMIM:610724 MIR24-2 skos:exactMatch ncbigene:407013 semapv:UnspecifiedMatching -OMIM:610726 TRUB1 skos:exactMatch UMLS:C1423945 semapv:UnspecifiedMatching -OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:16060 semapv:UnspecifiedMatching -OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:TRUB1 semapv:UnspecifiedMatching -OMIM:610726 TRUB1 skos:exactMatch ncbigene:142940 semapv:UnspecifiedMatching -OMIM:610727 TRUB2 skos:exactMatch UMLS:C1424793 semapv:UnspecifiedMatching -OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:17170 semapv:UnspecifiedMatching -OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:TRUB2 semapv:UnspecifiedMatching -OMIM:610727 TRUB2 skos:exactMatch ncbigene:26995 semapv:UnspecifiedMatching -OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:17389 semapv:UnspecifiedMatching -OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:SMPDL3A semapv:UnspecifiedMatching -OMIM:610728 SMPDL3A skos:exactMatch ncbigene:10924 semapv:UnspecifiedMatching -OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:25176 semapv:UnspecifiedMatching -OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:DNAAF10 semapv:UnspecifiedMatching -OMIM:610729 WDR92 skos:exactMatch ncbigene:116143 semapv:UnspecifiedMatching -OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:1621 semapv:UnspecifiedMatching -OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:CCT6B semapv:UnspecifiedMatching -OMIM:610730 CCT6B skos:exactMatch ncbigene:10693 semapv:UnspecifiedMatching -OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:18588 semapv:UnspecifiedMatching -OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:ANKRD7 semapv:UnspecifiedMatching -OMIM:610731 ANKRD7 skos:exactMatch ncbigene:56311 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch UMLS:C1428204 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:23700 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:TTC12 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch ncbigene:54970 semapv:UnspecifiedMatching -OMIM:610733 noonan syndrome 4 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching -OMIM:610733 noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching -OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:495 semapv:UnspecifiedMatching -OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:ANKRD2 semapv:UnspecifiedMatching -OMIM:610734 ANKRD2 skos:exactMatch ncbigene:26287 semapv:UnspecifiedMatching -OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:18565 semapv:UnspecifiedMatching -OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:MYOZ3 semapv:UnspecifiedMatching -OMIM:610735 MYOZ3 skos:exactMatch ncbigene:91977 semapv:UnspecifiedMatching -OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:24470 semapv:UnspecifiedMatching -OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:ANKRD23 semapv:UnspecifiedMatching -OMIM:610736 ANKRD23 skos:exactMatch ncbigene:200539 semapv:UnspecifiedMatching -OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:18610 semapv:UnspecifiedMatching -OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:KSR2 semapv:UnspecifiedMatching -OMIM:610737 KSR2 skos:exactMatch ncbigene:283455 semapv:UnspecifiedMatching -OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:11969 semapv:UnspecifiedMatching -OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:TNRC6A semapv:UnspecifiedMatching -OMIM:610739 TNRC6A skos:exactMatch ncbigene:27327 semapv:UnspecifiedMatching -OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:29190 semapv:UnspecifiedMatching -OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:TNRC6B semapv:UnspecifiedMatching -OMIM:610740 TNRC6B skos:exactMatch ncbigene:23112 semapv:UnspecifiedMatching -OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:29318 semapv:UnspecifiedMatching -OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:TNRC6C semapv:UnspecifiedMatching -OMIM:610741 TNRC6C skos:exactMatch ncbigene:57690 semapv:UnspecifiedMatching -OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:7200 semapv:UnspecifiedMatching -OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:MOV10 semapv:UnspecifiedMatching -OMIM:610742 MOV10 skos:exactMatch ncbigene:4343 semapv:UnspecifiedMatching -OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching -OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching -OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:30650 semapv:UnspecifiedMatching -OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:STRA6 semapv:UnspecifiedMatching -OMIM:610745 STRA6 skos:exactMatch ncbigene:64220 semapv:UnspecifiedMatching -OMIM:610746 DOLK skos:exactMatch hgnc.symbol:23406 semapv:UnspecifiedMatching -OMIM:610746 DOLK skos:exactMatch hgnc.symbol:DOLK semapv:UnspecifiedMatching -OMIM:610746 DOLK skos:exactMatch ncbigene:22845 semapv:UnspecifiedMatching -OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:23023 semapv:UnspecifiedMatching -OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:SAMD4A semapv:UnspecifiedMatching -OMIM:610747 SAMD4A skos:exactMatch ncbigene:23034 semapv:UnspecifiedMatching -OMIM:610748 USP28 skos:exactMatch hgnc.symbol:12625 semapv:UnspecifiedMatching -OMIM:610748 USP28 skos:exactMatch hgnc.symbol:USP28 semapv:UnspecifiedMatching -OMIM:610748 USP28 skos:exactMatch ncbigene:57646 semapv:UnspecifiedMatching -OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:21353 semapv:UnspecifiedMatching -OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:KLHL31 semapv:UnspecifiedMatching -OMIM:610749 KLHL31 skos:exactMatch ncbigene:401265 semapv:UnspecifiedMatching -OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:29620 semapv:UnspecifiedMatching -OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:ZCRB1 semapv:UnspecifiedMatching -OMIM:610750 ZCRB1 skos:exactMatch ncbigene:85437 semapv:UnspecifiedMatching -OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:23333 semapv:UnspecifiedMatching -OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:PRTFDC1 semapv:UnspecifiedMatching -OMIM:610751 PRTFDC1 skos:exactMatch ncbigene:56952 semapv:UnspecifiedMatching -OMIM:610752 UST skos:exactMatch hgnc.symbol:17223 semapv:UnspecifiedMatching -OMIM:610752 UST skos:exactMatch hgnc.symbol:UST semapv:UnspecifiedMatching -OMIM:610752 UST skos:exactMatch ncbigene:10090 semapv:UnspecifiedMatching -OMIM:610754 WAPL skos:exactMatch UMLS:C1823656 semapv:UnspecifiedMatching -OMIM:610754 WAPL skos:exactMatch hgnc.symbol:23293 semapv:UnspecifiedMatching -OMIM:610754 WAPL skos:exactMatch hgnc.symbol:WAPL semapv:UnspecifiedMatching -OMIM:610754 WAPL skos:exactMatch ncbigene:23063 semapv:UnspecifiedMatching -OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:24066 semapv:UnspecifiedMatching -OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:CCL4L2 semapv:UnspecifiedMatching -OMIM:610757 CCL4L2 skos:exactMatch ncbigene:9560 semapv:UnspecifiedMatching -OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching -OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching -OMIM:610762 high density lipoprotein cholesterol level quantitative trait locus 6 skos:exactMatch UMLS:C1853096 semapv:UnspecifiedMatching -OMIM:610763 NANP skos:exactMatch hgnc.symbol:16140 semapv:UnspecifiedMatching -OMIM:610763 NANP skos:exactMatch hgnc.symbol:NANP semapv:UnspecifiedMatching -OMIM:610763 NANP skos:exactMatch ncbigene:140838 semapv:UnspecifiedMatching -OMIM:610764 TSPOAP1 skos:exactMatch hgnc.symbol:16831 semapv:UnspecifiedMatching -OMIM:610764 TSPOAP1 skos:exactMatch hgnc.symbol:TSPOAP1 semapv:UnspecifiedMatching -OMIM:610764 TSPOAP1 skos:exactMatch ncbigene:9256 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch UMLS:C1826263 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:29636 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:MNS1 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch ncbigene:55329 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch UMLS:C1825502 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch UMLS:C4310865 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:21498 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:ATG16L1 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch ncbigene:55054 semapv:UnspecifiedMatching -OMIM:610769 NOC3L skos:exactMatch UMLS:C1835848 semapv:UnspecifiedMatching -OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:24034 semapv:UnspecifiedMatching -OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:NOC3L semapv:UnspecifiedMatching -OMIM:610769 NOC3L skos:exactMatch ncbigene:64318 semapv:UnspecifiedMatching -OMIM:610770 NOC2L skos:exactMatch UMLS:C1826446 semapv:UnspecifiedMatching -OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:24517 semapv:UnspecifiedMatching -OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:NOC2L semapv:UnspecifiedMatching -OMIM:610770 NOC2L skos:exactMatch ncbigene:26155 semapv:UnspecifiedMatching -OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:16816 semapv:UnspecifiedMatching -OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:CHD5 semapv:UnspecifiedMatching -OMIM:610771 CHD5 skos:exactMatch ncbigene:26038 semapv:UnspecifiedMatching -OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:26328 semapv:UnspecifiedMatching -OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:NKX6-3 semapv:UnspecifiedMatching -OMIM:610772 NKX6-3 skos:exactMatch ncbigene:157848 semapv:UnspecifiedMatching -OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch Orphanet:91130 semapv:UnspecifiedMatching -OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch UMLS:C1420844 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:11968 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:CNPY3 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch ncbigene:10695 semapv:UnspecifiedMatching -OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:1185 semapv:UnspecifiedMatching -OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:TIGAR semapv:UnspecifiedMatching -OMIM:610775 TIGAR skos:exactMatch ncbigene:57103 semapv:UnspecifiedMatching -OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:25645 semapv:UnspecifiedMatching -OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:DRAM1 semapv:UnspecifiedMatching -OMIM:610776 DRAM1 skos:exactMatch ncbigene:55332 semapv:UnspecifiedMatching -OMIM:610777 NGDN skos:exactMatch hgnc.symbol:20271 semapv:UnspecifiedMatching -OMIM:610777 NGDN skos:exactMatch hgnc.symbol:NGDN semapv:UnspecifiedMatching -OMIM:610777 NGDN skos:exactMatch ncbigene:25983 semapv:UnspecifiedMatching -OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:4397 semapv:UnspecifiedMatching -OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:GNB1L semapv:UnspecifiedMatching -OMIM:610778 GNB1L skos:exactMatch ncbigene:54584 semapv:UnspecifiedMatching -OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:8042 semapv:UnspecifiedMatching -OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:NUBP2 semapv:UnspecifiedMatching -OMIM:610779 NUBP2 skos:exactMatch ncbigene:10101 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch UMLS:C1825910 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:25652 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:LSG1 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch ncbigene:55341 semapv:UnspecifiedMatching -OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:4377 semapv:UnspecifiedMatching -OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:GMPR2 semapv:UnspecifiedMatching -OMIM:610781 GMPR2 skos:exactMatch ncbigene:51292 semapv:UnspecifiedMatching -OMIM:610782 MIR29A skos:exactMatch UMLS:C1835841 semapv:UnspecifiedMatching -OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:31616 semapv:UnspecifiedMatching -OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:MIR29A semapv:UnspecifiedMatching -OMIM:610782 MIR29A skos:exactMatch ncbigene:407021 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch UMLS:C1835840 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:31619 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:MIR29B1 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch ncbigene:407024 semapv:UnspecifiedMatching -OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:31621 semapv:UnspecifiedMatching -OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:MIR29C semapv:UnspecifiedMatching -OMIM:610784 MIR29C skos:exactMatch ncbigene:407026 semapv:UnspecifiedMatching -OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:18981 semapv:UnspecifiedMatching -OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:PDIK1L semapv:UnspecifiedMatching -OMIM:610785 PDIK1L skos:exactMatch ncbigene:149420 semapv:UnspecifiedMatching -OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:29506 semapv:UnspecifiedMatching -OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:SRCIN1 semapv:UnspecifiedMatching -OMIM:610786 SRCIN1 skos:exactMatch ncbigene:80725 semapv:UnspecifiedMatching -OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:30143 semapv:UnspecifiedMatching -OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:PRAC2 semapv:UnspecifiedMatching -OMIM:610787 PRAC2 skos:exactMatch ncbigene:360205 semapv:UnspecifiedMatching -OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:16872 semapv:UnspecifiedMatching -OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:SLC35B2 semapv:UnspecifiedMatching -OMIM:610788 SLC35B2 skos:exactMatch ncbigene:347734 semapv:UnspecifiedMatching -OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:16119 semapv:UnspecifiedMatching -OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:PDRG1 semapv:UnspecifiedMatching -OMIM:610789 PDRG1 skos:exactMatch ncbigene:81572 semapv:UnspecifiedMatching -OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:20798 semapv:UnspecifiedMatching -OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:SLC35B1 semapv:UnspecifiedMatching -OMIM:610790 SLC35B1 skos:exactMatch ncbigene:10237 semapv:UnspecifiedMatching -OMIM:610791 SLC43A2 skos:exactMatch UMLS:C1539786 semapv:UnspecifiedMatching -OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:23087 semapv:UnspecifiedMatching -OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:SLC43A2 semapv:UnspecifiedMatching -OMIM:610791 SLC43A2 skos:exactMatch ncbigene:124935 semapv:UnspecifiedMatching -OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:32935 semapv:UnspecifiedMatching -OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:SLC22A25 semapv:UnspecifiedMatching -OMIM:610792 SLC22A25 skos:exactMatch ncbigene:387601 semapv:UnspecifiedMatching -OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:27371 semapv:UnspecifiedMatching -OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:SLC25A30 semapv:UnspecifiedMatching -OMIM:610793 SLC25A30 skos:exactMatch ncbigene:253512 semapv:UnspecifiedMatching -OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:14097 semapv:UnspecifiedMatching -OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:ZSCAN31 semapv:UnspecifiedMatching -OMIM:610794 ZNF323 skos:exactMatch ncbigene:64288 semapv:UnspecifiedMatching -OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:30907 semapv:UnspecifiedMatching -OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:SORBS3 semapv:UnspecifiedMatching -OMIM:610795 SORBS3 skos:exactMatch ncbigene:10174 semapv:UnspecifiedMatching -OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:25319 semapv:UnspecifiedMatching -OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:SLC25A31 semapv:UnspecifiedMatching -OMIM:610796 SLC25A31 skos:exactMatch ncbigene:83447 semapv:UnspecifiedMatching -OMIM:610800 ATG10 skos:exactMatch UMLS:C1825501 semapv:UnspecifiedMatching -OMIM:610800 ATG10 skos:exactMatch hgnc.symbol:20315 semapv:UnspecifiedMatching -OMIM:610800 ATG10 skos:exactMatch hgnc.symbol:ATG10 semapv:UnspecifiedMatching -OMIM:610800 ATG10 skos:exactMatch ncbigene:83734 semapv:UnspecifiedMatching -OMIM:610801 SLC41A1 skos:exactMatch hgnc.symbol:19429 semapv:UnspecifiedMatching -OMIM:610801 SLC41A1 skos:exactMatch hgnc.symbol:SLC41A1 semapv:UnspecifiedMatching -OMIM:610801 SLC41A1 skos:exactMatch ncbigene:254428 semapv:UnspecifiedMatching -OMIM:610802 SLC41A2 skos:exactMatch hgnc.symbol:31045 semapv:UnspecifiedMatching -OMIM:610802 SLC41A2 skos:exactMatch hgnc.symbol:SLC41A2 semapv:UnspecifiedMatching -OMIM:610802 SLC41A2 skos:exactMatch ncbigene:84102 semapv:UnspecifiedMatching -OMIM:610803 SLC41A3 skos:exactMatch hgnc.symbol:31046 semapv:UnspecifiedMatching -OMIM:610803 SLC41A3 skos:exactMatch hgnc.symbol:SLC41A3 semapv:UnspecifiedMatching -OMIM:610803 SLC41A3 skos:exactMatch ncbigene:54946 semapv:UnspecifiedMatching -OMIM:610804 SLC35D1 skos:exactMatch hgnc.symbol:20800 semapv:UnspecifiedMatching -OMIM:610804 SLC35D1 skos:exactMatch hgnc.symbol:SLC35D1 semapv:UnspecifiedMatching -OMIM:610804 SLC35D1 skos:exactMatch ncbigene:23169 semapv:UnspecifiedMatching -OMIM:610805 congenital anomalies of kidney and urinary tract 1 skos:exactMatch UMLS:C1835826 semapv:UnspecifiedMatching -OMIM:610806 TBC1D3C skos:exactMatch hgnc.symbol:24889 semapv:UnspecifiedMatching -OMIM:610806 TBC1D3C skos:exactMatch hgnc.symbol:TBC1D3C semapv:UnspecifiedMatching -OMIM:610806 TBC1D3C skos:exactMatch ncbigene:414060 semapv:UnspecifiedMatching -OMIM:610807 TBC1D3D skos:exactMatch hgnc.symbol:28944 semapv:UnspecifiedMatching -OMIM:610807 TBC1D3D skos:exactMatch hgnc.symbol:TBC1D3D semapv:UnspecifiedMatching -OMIM:610807 TBC1D3D skos:exactMatch ncbigene:101060389 semapv:UnspecifiedMatching -OMIM:610808 TBC1D3E skos:exactMatch hgnc.symbol:27071 semapv:UnspecifiedMatching -OMIM:610808 TBC1D3E skos:exactMatch hgnc.symbol:TBC1D3E semapv:UnspecifiedMatching -OMIM:610808 TBC1D3E skos:exactMatch ncbigene:102723859 semapv:UnspecifiedMatching -OMIM:610809 TBC1D3F skos:exactMatch hgnc.symbol:18257 semapv:UnspecifiedMatching -OMIM:610809 TBC1D3F skos:exactMatch hgnc.symbol:TBC1D3F semapv:UnspecifiedMatching -OMIM:610809 TBC1D3F skos:exactMatch ncbigene:84218 semapv:UnspecifiedMatching -OMIM:610810 TBC1D3G skos:exactMatch hgnc.symbol:29860 semapv:UnspecifiedMatching -OMIM:610810 TBC1D3G skos:exactMatch hgnc.symbol:TBC1D3G semapv:UnspecifiedMatching -OMIM:610810 TBC1D3G skos:exactMatch ncbigene:101060321 semapv:UnspecifiedMatching -OMIM:610811 TBC1D3H skos:exactMatch hgnc.symbol:30708 semapv:UnspecifiedMatching -OMIM:610811 TBC1D3H skos:exactMatch hgnc.symbol:TBC1D3H semapv:UnspecifiedMatching -OMIM:610811 TBC1D3H skos:exactMatch ncbigene:729877 semapv:UnspecifiedMatching -OMIM:610812 HYDIN skos:exactMatch hgnc.symbol:19368 semapv:UnspecifiedMatching -OMIM:610812 HYDIN skos:exactMatch hgnc.symbol:HYDIN semapv:UnspecifiedMatching -OMIM:610812 HYDIN skos:exactMatch ncbigene:54768 semapv:UnspecifiedMatching -OMIM:610813 HYDIN2 skos:exactMatch hgnc.symbol:33129 semapv:UnspecifiedMatching -OMIM:610813 HYDIN2 skos:exactMatch hgnc.symbol:HYDIN2 semapv:UnspecifiedMatching -OMIM:610813 HYDIN2 skos:exactMatch ncbigene:100288805 semapv:UnspecifiedMatching -OMIM:610816 SLC25A33 skos:exactMatch UMLS:C1822743 semapv:UnspecifiedMatching -OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:29681 semapv:UnspecifiedMatching -OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:SLC25A33 semapv:UnspecifiedMatching -OMIM:610816 SLC25A33 skos:exactMatch ncbigene:84275 semapv:UnspecifiedMatching -OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:27653 semapv:UnspecifiedMatching -OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:SLC25A34 semapv:UnspecifiedMatching -OMIM:610817 SLC25A34 skos:exactMatch ncbigene:284723 semapv:UnspecifiedMatching -OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:31921 semapv:UnspecifiedMatching -OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:SLC25A35 semapv:UnspecifiedMatching -OMIM:610818 SLC25A35 skos:exactMatch ncbigene:399512 semapv:UnspecifiedMatching -OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:26054 semapv:UnspecifiedMatching -OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:SLC25A38 semapv:UnspecifiedMatching -OMIM:610819 SLC25A38 skos:exactMatch ncbigene:54977 semapv:UnspecifiedMatching -OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:24279 semapv:UnspecifiedMatching -OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:SLC25A39 semapv:UnspecifiedMatching -OMIM:610820 SLC25A39 skos:exactMatch ncbigene:51629 semapv:UnspecifiedMatching -OMIM:610821 SLC25A40 skos:exactMatch hgnc.symbol:29680 semapv:UnspecifiedMatching -OMIM:610821 SLC25A40 skos:exactMatch hgnc.symbol:SLC25A40 semapv:UnspecifiedMatching -OMIM:610821 SLC25A40 skos:exactMatch ncbigene:55972 semapv:UnspecifiedMatching -OMIM:610822 SLC25A41 skos:exactMatch hgnc.symbol:28533 semapv:UnspecifiedMatching -OMIM:610822 SLC25A41 skos:exactMatch hgnc.symbol:SLC25A41 semapv:UnspecifiedMatching -OMIM:610822 SLC25A41 skos:exactMatch ncbigene:284427 semapv:UnspecifiedMatching -OMIM:610823 SLC25A42 skos:exactMatch hgnc.symbol:28380 semapv:UnspecifiedMatching -OMIM:610823 SLC25A42 skos:exactMatch hgnc.symbol:SLC25A42 semapv:UnspecifiedMatching -OMIM:610823 SLC25A42 skos:exactMatch ncbigene:284439 semapv:UnspecifiedMatching -OMIM:610824 SLC25A44 skos:exactMatch hgnc.symbol:29036 semapv:UnspecifiedMatching -OMIM:610824 SLC25A44 skos:exactMatch hgnc.symbol:SLC25A44 semapv:UnspecifiedMatching -OMIM:610824 SLC25A44 skos:exactMatch ncbigene:9673 semapv:UnspecifiedMatching -OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:27442 semapv:UnspecifiedMatching -OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:SLC25A45 semapv:UnspecifiedMatching -OMIM:610825 SLC25A45 skos:exactMatch ncbigene:283130 semapv:UnspecifiedMatching -OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:25198 semapv:UnspecifiedMatching -OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:SLC25A46 semapv:UnspecifiedMatching -OMIM:610826 SLC25A46 skos:exactMatch ncbigene:91137 semapv:UnspecifiedMatching -OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:15807 semapv:UnspecifiedMatching -OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:ZNF335 semapv:UnspecifiedMatching -OMIM:610827 ZNF335 skos:exactMatch ncbigene:63925 semapv:UnspecifiedMatching -OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:24702 semapv:UnspecifiedMatching -OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:TBC1D10C semapv:UnspecifiedMatching -OMIM:610831 TBC1D10C skos:exactMatch ncbigene:374403 semapv:UnspecifiedMatching -OMIM:610833 NAA20 skos:exactMatch UMLS:C1423824 semapv:UnspecifiedMatching -OMIM:610833 NAA20 skos:exactMatch hgnc.symbol:15908 semapv:UnspecifiedMatching -OMIM:610833 NAA20 skos:exactMatch hgnc.symbol:NAA20 semapv:UnspecifiedMatching -OMIM:610833 NAA20 skos:exactMatch ncbigene:51126 semapv:UnspecifiedMatching -OMIM:610834 NAA50 skos:exactMatch UMLS:C1826357 semapv:UnspecifiedMatching -OMIM:610834 NAA50 skos:exactMatch hgnc.symbol:29533 semapv:UnspecifiedMatching -OMIM:610834 NAA50 skos:exactMatch hgnc.symbol:NAA50 semapv:UnspecifiedMatching -OMIM:610834 NAA50 skos:exactMatch ncbigene:80218 semapv:UnspecifiedMatching -OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:29885 semapv:UnspecifiedMatching -OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:ICE2 semapv:UnspecifiedMatching -OMIM:610835 NARG2 skos:exactMatch ncbigene:79664 semapv:UnspecifiedMatching -OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:13787 semapv:UnspecifiedMatching -OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:BCL2L12 semapv:UnspecifiedMatching -OMIM:610837 BCL2L12 skos:exactMatch ncbigene:83596 semapv:UnspecifiedMatching -OMIM:610840 mitral valve prolapse 3 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching -OMIM:610840 mitral valve prolapse 3 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching -OMIM:610841 STIM2 skos:exactMatch hgnc.symbol:19205 semapv:UnspecifiedMatching -OMIM:610841 STIM2 skos:exactMatch hgnc.symbol:STIM2 semapv:UnspecifiedMatching -OMIM:610841 STIM2 skos:exactMatch ncbigene:57620 semapv:UnspecifiedMatching -OMIM:610843 UQCR10 skos:exactMatch hgnc.symbol:30863 semapv:UnspecifiedMatching -OMIM:610843 UQCR10 skos:exactMatch hgnc.symbol:UQCR10 semapv:UnspecifiedMatching -OMIM:610843 UQCR10 skos:exactMatch ncbigene:29796 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch UMLS:C1420344 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch UMLS:C1858479 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch UMLS:C4225253 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:11226 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:SPG11 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch ncbigene:80208 semapv:UnspecifiedMatching -OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:21601 semapv:UnspecifiedMatching -OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:SLC35B3 semapv:UnspecifiedMatching -OMIM:610845 SLC35B3 skos:exactMatch ncbigene:51000 semapv:UnspecifiedMatching -OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:20264 semapv:UnspecifiedMatching -OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:LRRC10 semapv:UnspecifiedMatching -OMIM:610846 LRRC10 skos:exactMatch ncbigene:376132 semapv:UnspecifiedMatching -OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:23640 semapv:UnspecifiedMatching -OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:ZNF322 semapv:UnspecifiedMatching -OMIM:610847 ZNF322 skos:exactMatch ncbigene:79692 semapv:UnspecifiedMatching -OMIM:610848 REP15 skos:exactMatch hgnc.symbol:33748 semapv:UnspecifiedMatching -OMIM:610848 REP15 skos:exactMatch hgnc.symbol:REP15 semapv:UnspecifiedMatching -OMIM:610848 REP15 skos:exactMatch ncbigene:387849 semapv:UnspecifiedMatching -OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:26664 semapv:UnspecifiedMatching -OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:TTLL6 semapv:UnspecifiedMatching -OMIM:610849 TTLL6 skos:exactMatch ncbigene:284076 semapv:UnspecifiedMatching -OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:14089 semapv:UnspecifiedMatching -OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:XAB2 semapv:UnspecifiedMatching -OMIM:610850 XAB2 skos:exactMatch ncbigene:56949 semapv:UnspecifiedMatching -OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:28808 semapv:UnspecifiedMatching -OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:AP1AR semapv:UnspecifiedMatching -OMIM:610851 AP1AR skos:exactMatch ncbigene:55435 semapv:UnspecifiedMatching -OMIM:610853 AHCTF1 skos:exactMatch UMLS:C1826615 semapv:UnspecifiedMatching -OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:24618 semapv:UnspecifiedMatching -OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:AHCTF1 semapv:UnspecifiedMatching -OMIM:610853 AHCTF1 skos:exactMatch ncbigene:25909 semapv:UnspecifiedMatching -OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:29186 semapv:UnspecifiedMatching -OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:ANKRD26 semapv:UnspecifiedMatching -OMIM:610855 ANKRD26 skos:exactMatch ncbigene:22852 semapv:UnspecifiedMatching -OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:17234 semapv:UnspecifiedMatching -OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:ANKRD30A semapv:UnspecifiedMatching -OMIM:610856 ANKRD30A skos:exactMatch ncbigene:91074 semapv:UnspecifiedMatching -OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:30588 semapv:UnspecifiedMatching -OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:MUCL1 semapv:UnspecifiedMatching -OMIM:610857 MUCL1 skos:exactMatch ncbigene:118430 semapv:UnspecifiedMatching -OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:23169 semapv:UnspecifiedMatching -OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:RTRAF semapv:UnspecifiedMatching -OMIM:610858 RTRAF skos:exactMatch ncbigene:51637 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch UMLS:C2239891 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch UMLS:C4748304 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:27089 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:CARMIL2 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch ncbigene:146206 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch UMLS:C1412279 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch UMLS:C3695005 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch UMLS:C3695006 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch UMLS:C3695007 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch hgnc.symbol:321 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch hgnc.symbol:AGL semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch ncbigene:178 semapv:UnspecifiedMatching -OMIM:610861 SYNE3 skos:exactMatch UMLS:C1426488 semapv:UnspecifiedMatching -OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:19861 semapv:UnspecifiedMatching -OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:SYNE3 semapv:UnspecifiedMatching -OMIM:610861 SYNE3 skos:exactMatch ncbigene:161176 semapv:UnspecifiedMatching -OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:20113 semapv:UnspecifiedMatching -OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:DEGS2 semapv:UnspecifiedMatching -OMIM:610862 DEGS2 skos:exactMatch ncbigene:123099 semapv:UnspecifiedMatching -OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:20731 semapv:UnspecifiedMatching -OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:GNB4 semapv:UnspecifiedMatching -OMIM:610863 GNB4 skos:exactMatch ncbigene:59345 semapv:UnspecifiedMatching -OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:39077 semapv:UnspecifiedMatching -OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:FLVCR1-DT semapv:UnspecifiedMatching -OMIM:610864 FLVCR1-DT skos:exactMatch ncbigene:642946 semapv:UnspecifiedMatching -OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:20105 semapv:UnspecifiedMatching -OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:FLVCR2 semapv:UnspecifiedMatching -OMIM:610865 FLVCR2 skos:exactMatch ncbigene:55640 semapv:UnspecifiedMatching -OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:15938 semapv:UnspecifiedMatching -OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:UCKL1 semapv:UnspecifiedMatching -OMIM:610866 UCKL1 skos:exactMatch ncbigene:54963 semapv:UnspecifiedMatching -OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:19408 semapv:UnspecifiedMatching -OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:LRRTM1 semapv:UnspecifiedMatching -OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch ncbigene:347730 semapv:UnspecifiedMatching -OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:19409 semapv:UnspecifiedMatching -OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:LRRTM2 semapv:UnspecifiedMatching -OMIM:610868 LRRTM2 skos:exactMatch ncbigene:26045 semapv:UnspecifiedMatching -OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:19410 semapv:UnspecifiedMatching -OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:LRRTM3 semapv:UnspecifiedMatching -OMIM:610869 LRRTM3 skos:exactMatch ncbigene:347731 semapv:UnspecifiedMatching -OMIM:610870 LRRTM4 skos:exactMatch UMLS:C1537619 semapv:UnspecifiedMatching -OMIM:610870 LRRTM4 skos:exactMatch hgnc.symbol:19411 semapv:UnspecifiedMatching -OMIM:610870 LRRTM4 skos:exactMatch hgnc.symbol:LRRTM4 semapv:UnspecifiedMatching -OMIM:610870 LRRTM4 skos:exactMatch ncbigene:80059 semapv:UnspecifiedMatching -OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:26886 semapv:UnspecifiedMatching -OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:RNF19B semapv:UnspecifiedMatching -OMIM:610872 IBRDC3 skos:exactMatch ncbigene:127544 semapv:UnspecifiedMatching -OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:30510 semapv:UnspecifiedMatching -OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:SPATC1 semapv:UnspecifiedMatching -OMIM:610874 SPATC1 skos:exactMatch ncbigene:375686 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching -OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:21033 semapv:UnspecifiedMatching -OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:HACE1 semapv:UnspecifiedMatching -OMIM:610876 HACE1 skos:exactMatch ncbigene:57531 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching -OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:1174 semapv:UnspecifiedMatching -OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:C11orf24 semapv:UnspecifiedMatching -OMIM:610880 C11ORF24 skos:exactMatch ncbigene:53838 semapv:UnspecifiedMatching -OMIM:610881 KMT5B skos:exactMatch UMLS:C1539900 semapv:UnspecifiedMatching -OMIM:610881 KMT5B skos:exactMatch UMLS:C4540474 semapv:UnspecifiedMatching -OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:24283 semapv:UnspecifiedMatching -OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:KMT5B semapv:UnspecifiedMatching -OMIM:610881 KMT5B skos:exactMatch ncbigene:51111 semapv:UnspecifiedMatching -OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:11321 semapv:UnspecifiedMatching -OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:SSNA1 semapv:UnspecifiedMatching -OMIM:610882 SSNA1 skos:exactMatch ncbigene:8636 semapv:UnspecifiedMatching -OMIM:610883 potocki-lupski syndrome skos:exactMatch Orphanet:1713 semapv:UnspecifiedMatching -OMIM:610883 potocki-lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching -OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:28467 semapv:UnspecifiedMatching -OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:FAAP24 semapv:UnspecifiedMatching -OMIM:610884 FAAP24 skos:exactMatch ncbigene:91442 semapv:UnspecifiedMatching -OMIM:610885 EME1 skos:exactMatch UMLS:C1428432 semapv:UnspecifiedMatching -OMIM:610885 EME1 skos:exactMatch hgnc.symbol:24965 semapv:UnspecifiedMatching -OMIM:610885 EME1 skos:exactMatch hgnc.symbol:EME1 semapv:UnspecifiedMatching -OMIM:610885 EME1 skos:exactMatch ncbigene:146956 semapv:UnspecifiedMatching -OMIM:610886 EME2 skos:exactMatch UMLS:C1428650 semapv:UnspecifiedMatching -OMIM:610886 EME2 skos:exactMatch hgnc.symbol:27289 semapv:UnspecifiedMatching -OMIM:610886 EME2 skos:exactMatch hgnc.symbol:EME2 semapv:UnspecifiedMatching -OMIM:610886 EME2 skos:exactMatch ncbigene:197342 semapv:UnspecifiedMatching -OMIM:610887 POLN skos:exactMatch hgnc.symbol:18870 semapv:UnspecifiedMatching -OMIM:610887 POLN skos:exactMatch hgnc.symbol:POLN semapv:UnspecifiedMatching -OMIM:610887 POLN skos:exactMatch ncbigene:353497 semapv:UnspecifiedMatching -OMIM:610888 gastric cancer-related gene 224 skos:exactMatch ncbigene:360219 semapv:UnspecifiedMatching -OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:20628 semapv:UnspecifiedMatching -OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:IPO11 semapv:UnspecifiedMatching -OMIM:610889 IPO11 skos:exactMatch ncbigene:51194 semapv:UnspecifiedMatching -OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:23271 semapv:UnspecifiedMatching -OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:RGS7BP semapv:UnspecifiedMatching -OMIM:610890 RGS7BP skos:exactMatch ncbigene:401190 semapv:UnspecifiedMatching -OMIM:610891 FAM102A skos:exactMatch hgnc.symbol:EEIG1 semapv:UnspecifiedMatching -OMIM:610891 FAM102A skos:exactMatch ncbigene:399665 semapv:UnspecifiedMatching -OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:33429 semapv:UnspecifiedMatching -OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:SYT14P1 semapv:UnspecifiedMatching -OMIM:610892 SYT14L skos:exactMatch ncbigene:401135 semapv:UnspecifiedMatching -OMIM:610893 CHMP2A skos:exactMatch UMLS:C1538455 semapv:UnspecifiedMatching -OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:30216 semapv:UnspecifiedMatching -OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:CHMP2A semapv:UnspecifiedMatching -OMIM:610893 CHMP2A skos:exactMatch ncbigene:27243 semapv:UnspecifiedMatching -OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:29862 semapv:UnspecifiedMatching -OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:NRG4 semapv:UnspecifiedMatching -OMIM:610894 NRG4 skos:exactMatch ncbigene:145957 semapv:UnspecifiedMatching -OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:30916 semapv:UnspecifiedMatching -OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:WFIKKN2 semapv:UnspecifiedMatching -OMIM:610895 WFIKKN2 skos:exactMatch ncbigene:124857 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch UMLS:C1538458 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch UMLS:C4017230 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:16171 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:CHMP4B semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch ncbigene:128866 semapv:UnspecifiedMatching -OMIM:610899 CHMP4C skos:exactMatch UMLS:C1538459 semapv:UnspecifiedMatching -OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:30599 semapv:UnspecifiedMatching -OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:CHMP4C semapv:UnspecifiedMatching -OMIM:610899 CHMP4C skos:exactMatch ncbigene:92421 semapv:UnspecifiedMatching -OMIM:610900 CHMP5 skos:exactMatch UMLS:C1538460 semapv:UnspecifiedMatching -OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:26942 semapv:UnspecifiedMatching -OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:CHMP5 semapv:UnspecifiedMatching -OMIM:610900 CHMP5 skos:exactMatch ncbigene:51510 semapv:UnspecifiedMatching -OMIM:610901 CHMP6 skos:exactMatch UMLS:C1538461 semapv:UnspecifiedMatching -OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:25675 semapv:UnspecifiedMatching -OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:CHMP6 semapv:UnspecifiedMatching -OMIM:610901 CHMP6 skos:exactMatch ncbigene:79643 semapv:UnspecifiedMatching -OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:20954 semapv:UnspecifiedMatching -OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:VTA1 semapv:UnspecifiedMatching -OMIM:610902 VTA1 skos:exactMatch ncbigene:51534 semapv:UnspecifiedMatching -OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:20312 semapv:UnspecifiedMatching -OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:VPS36 semapv:UnspecifiedMatching -OMIM:610903 VPS36 skos:exactMatch ncbigene:51028 semapv:UnspecifiedMatching -OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:17028 semapv:UnspecifiedMatching -OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:SNF8 semapv:UnspecifiedMatching -OMIM:610904 SNF8 skos:exactMatch ncbigene:11267 semapv:UnspecifiedMatching -OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:28122 semapv:UnspecifiedMatching -OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:VPS25 semapv:UnspecifiedMatching -OMIM:610907 VPS25 skos:exactMatch ncbigene:84313 semapv:UnspecifiedMatching -OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:25782 semapv:UnspecifiedMatching -OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:MCMBP semapv:UnspecifiedMatching -OMIM:610909 MCMBP skos:exactMatch ncbigene:79892 semapv:UnspecifiedMatching -OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:29216 semapv:UnspecifiedMatching -OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:ARHGAP31 semapv:UnspecifiedMatching -OMIM:610911 ARHGAP31 skos:exactMatch ncbigene:57514 semapv:UnspecifiedMatching -OMIM:610912 AMTN skos:exactMatch hgnc.symbol:33188 semapv:UnspecifiedMatching -OMIM:610912 AMTN skos:exactMatch hgnc.symbol:AMTN semapv:UnspecifiedMatching -OMIM:610912 AMTN skos:exactMatch ncbigene:401138 semapv:UnspecifiedMatching -OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:25474 semapv:UnspecifiedMatching -OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:ENOX1 semapv:UnspecifiedMatching -OMIM:610914 ENOX1 skos:exactMatch ncbigene:55068 semapv:UnspecifiedMatching -OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:25994 semapv:UnspecifiedMatching -OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:NSUN2 semapv:UnspecifiedMatching -OMIM:610916 NSUN2 skos:exactMatch ncbigene:54888 semapv:UnspecifiedMatching -OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:16519 semapv:UnspecifiedMatching -OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:RAB34 semapv:UnspecifiedMatching -OMIM:610917 RAB34 skos:exactMatch ncbigene:83871 semapv:UnspecifiedMatching -OMIM:610918 SELENOM skos:exactMatch hgnc.symbol:30397 semapv:UnspecifiedMatching -OMIM:610918 SELENOM skos:exactMatch hgnc.symbol:SELENOM semapv:UnspecifiedMatching -OMIM:610918 SELENOM skos:exactMatch ncbigene:140606 semapv:UnspecifiedMatching -OMIM:610919 GTPBP5 skos:exactMatch hgnc.symbol:16239 semapv:UnspecifiedMatching -OMIM:610919 GTPBP5 skos:exactMatch hgnc.symbol:MTG2 semapv:UnspecifiedMatching -OMIM:610919 GTPBP5 skos:exactMatch ncbigene:26164 semapv:UnspecifiedMatching -OMIM:610920 GTPBP10 skos:exactMatch hgnc.symbol:25106 semapv:UnspecifiedMatching -OMIM:610920 GTPBP10 skos:exactMatch hgnc.symbol:GTPBP10 semapv:UnspecifiedMatching -OMIM:610920 GTPBP10 skos:exactMatch ncbigene:85865 semapv:UnspecifiedMatching -OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:1190 semapv:UnspecifiedMatching -OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:NPAP1 semapv:UnspecifiedMatching -OMIM:610922 NPAP1 skos:exactMatch ncbigene:23742 semapv:UnspecifiedMatching -OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:20584 semapv:UnspecifiedMatching -OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:SLC35B4 semapv:UnspecifiedMatching -OMIM:610923 SLC35B4 skos:exactMatch ncbigene:84912 semapv:UnspecifiedMatching -OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:15864 semapv:UnspecifiedMatching -OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:RBCK1 semapv:UnspecifiedMatching -OMIM:610924 RBCK1 skos:exactMatch ncbigene:10616 semapv:UnspecifiedMatching -OMIM:610925 IL17RC skos:exactMatch UMLS:C1425470 semapv:UnspecifiedMatching -OMIM:610925 IL17RC skos:exactMatch UMLS:C4225324 semapv:UnspecifiedMatching -OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:18358 semapv:UnspecifiedMatching -OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:IL17RC semapv:UnspecifiedMatching -OMIM:610925 IL17RC skos:exactMatch ncbigene:84818 semapv:UnspecifiedMatching -OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:18122 semapv:UnspecifiedMatching -OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:SOX17 semapv:UnspecifiedMatching -OMIM:610928 SOX17 skos:exactMatch ncbigene:64321 semapv:UnspecifiedMatching -OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:21667 semapv:UnspecifiedMatching -OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:ORAI2 semapv:UnspecifiedMatching -OMIM:610929 ORAI2 skos:exactMatch ncbigene:80228 semapv:UnspecifiedMatching -OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:28185 semapv:UnspecifiedMatching -OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:ORAI3 semapv:UnspecifiedMatching -OMIM:610930 ORAI3 skos:exactMatch ncbigene:93129 semapv:UnspecifiedMatching -OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:19899 semapv:UnspecifiedMatching -OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:ZFAT semapv:UnspecifiedMatching -OMIM:610931 ZFAT1 skos:exactMatch ncbigene:57623 semapv:UnspecifiedMatching -OMIM:610932 TWF1 skos:exactMatch UMLS:C1823556 semapv:UnspecifiedMatching -OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:9620 semapv:UnspecifiedMatching -OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:TWF1 semapv:UnspecifiedMatching -OMIM:610932 TWF1 skos:exactMatch ncbigene:5756 semapv:UnspecifiedMatching -OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:25135 semapv:UnspecifiedMatching -OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:LRSAM1 semapv:UnspecifiedMatching -OMIM:610933 LRSAM1 skos:exactMatch ncbigene:90678 semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch UMLS:C1826445 semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch UMLS:C1969060 semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:22448 semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:NOBOX semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch ncbigene:135935 semapv:UnspecifiedMatching -OMIM:610935 ZACN skos:exactMatch hgnc.symbol:29504 semapv:UnspecifiedMatching -OMIM:610935 ZACN skos:exactMatch hgnc.symbol:ZACN semapv:UnspecifiedMatching -OMIM:610935 ZACN skos:exactMatch ncbigene:353174 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch UMLS:C1426033 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch UMLS:C4015019 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:19129 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:PSAT1 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch ncbigene:29968 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C2242767 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C4017235 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:29168 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:RPGRIP1L semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch ncbigene:23322 semapv:UnspecifiedMatching -OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:31562 semapv:UnspecifiedMatching -OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:MIR192 semapv:UnspecifiedMatching -OMIM:610939 MIR192 skos:exactMatch ncbigene:406967 semapv:UnspecifiedMatching -OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:31564 semapv:UnspecifiedMatching -OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:MIR194-1 semapv:UnspecifiedMatching -OMIM:610940 MIR194-1 skos:exactMatch ncbigene:406969 semapv:UnspecifiedMatching -OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:31565 semapv:UnspecifiedMatching -OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:MIR194-2 semapv:UnspecifiedMatching -OMIM:610941 MIR194-2 skos:exactMatch ncbigene:406970 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch UMLS:C1537842 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch UMLS:C4225493 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:31582 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:MIR204 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch ncbigene:406987 semapv:UnspecifiedMatching -OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:31592 semapv:UnspecifiedMatching -OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:MIR215 semapv:UnspecifiedMatching -OMIM:610943 MIR215 skos:exactMatch ncbigene:406997 semapv:UnspecifiedMatching -OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:31593 semapv:UnspecifiedMatching -OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:MIR216A semapv:UnspecifiedMatching -OMIM:610944 MIR216 skos:exactMatch ncbigene:406998 semapv:UnspecifiedMatching -OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:31617 semapv:UnspecifiedMatching -OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:MIR296 semapv:UnspecifiedMatching -OMIM:610945 MIR296 skos:exactMatch ncbigene:407022 semapv:UnspecifiedMatching -OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:31759 semapv:UnspecifiedMatching -OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:MIR133B semapv:UnspecifiedMatching -OMIM:610946 MIR133B skos:exactMatch ncbigene:442890 semapv:UnspecifiedMatching -OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:23143 semapv:UnspecifiedMatching -OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:SYT14 semapv:UnspecifiedMatching -OMIM:610949 SYT14 skos:exactMatch ncbigene:255928 semapv:UnspecifiedMatching -OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:23142 semapv:UnspecifiedMatching -OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:SYT16 semapv:UnspecifiedMatching -OMIM:610950 SYT16 skos:exactMatch ncbigene:83851 semapv:UnspecifiedMatching -OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching -OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:228366 semapv:UnspecifiedMatching -OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching -OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:15762 semapv:UnspecifiedMatching -OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:CRNKL1 semapv:UnspecifiedMatching -OMIM:610952 CRNKL1 skos:exactMatch ncbigene:51340 semapv:UnspecifiedMatching -OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:26220 semapv:UnspecifiedMatching -OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:PIF1 semapv:UnspecifiedMatching -OMIM:610953 PIF1 skos:exactMatch ncbigene:80119 semapv:UnspecifiedMatching -OMIM:610954 pitt-hopkins syndrome skos:exactMatch Orphanet:2896 semapv:UnspecifiedMatching -OMIM:610954 pitt-hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching -OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:19942 semapv:UnspecifiedMatching -OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:TRAPPC3 semapv:UnspecifiedMatching -OMIM:610955 TRAPPC3 skos:exactMatch ncbigene:27095 semapv:UnspecifiedMatching -OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:25538 semapv:UnspecifiedMatching -OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:DARS2 semapv:UnspecifiedMatching -OMIM:610956 DARS2 skos:exactMatch ncbigene:55157 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch UMLS:C1823881 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch UMLS:C3150802 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:24249 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:YARS2 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch ncbigene:51067 semapv:UnspecifiedMatching -OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:28157 semapv:UnspecifiedMatching -OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:GPAT3 semapv:UnspecifiedMatching -OMIM:610958 AGPAT9 skos:exactMatch ncbigene:84803 semapv:UnspecifiedMatching -OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:31869 semapv:UnspecifiedMatching -OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:MIR376A1 semapv:UnspecifiedMatching -OMIM:610959 MIR376A1 skos:exactMatch ncbigene:494325 semapv:UnspecifiedMatching -OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:32532 semapv:UnspecifiedMatching -OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:MIR376A2 semapv:UnspecifiedMatching -OMIM:610960 MIR376A2 skos:exactMatch ncbigene:664615 semapv:UnspecifiedMatching -OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:32066 semapv:UnspecifiedMatching -OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:MIR376B semapv:UnspecifiedMatching -OMIM:610961 MIR376B skos:exactMatch ncbigene:574435 semapv:UnspecifiedMatching -OMIM:610962 SMG5 skos:exactMatch UMLS:C1822788 semapv:UnspecifiedMatching -OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:24644 semapv:UnspecifiedMatching -OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:SMG5 semapv:UnspecifiedMatching -OMIM:610962 SMG5 skos:exactMatch ncbigene:23381 semapv:UnspecifiedMatching -OMIM:610963 SMG6 skos:exactMatch UMLS:C1822789 semapv:UnspecifiedMatching -OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:17809 semapv:UnspecifiedMatching -OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:SMG6 semapv:UnspecifiedMatching -OMIM:610963 SMG6 skos:exactMatch ncbigene:23293 semapv:UnspecifiedMatching -OMIM:610964 SMG7 skos:exactMatch UMLS:C1822790 semapv:UnspecifiedMatching -OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:16792 semapv:UnspecifiedMatching -OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:SMG7 semapv:UnspecifiedMatching -OMIM:610964 SMG7 skos:exactMatch ncbigene:9887 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch UMLS:C1970415 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch UMLS:C2752001 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch UMLS:C4225492 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch hgnc.symbol:24678 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch hgnc.symbol:FTO semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch ncbigene:79068 semapv:UnspecifiedMatching -OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:19894 semapv:UnspecifiedMatching -OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:TRAPPC1 semapv:UnspecifiedMatching -OMIM:610969 TRAPPC1 skos:exactMatch ncbigene:58485 semapv:UnspecifiedMatching -OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:30887 semapv:UnspecifiedMatching -OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:TRAPPC2L semapv:UnspecifiedMatching -OMIM:610970 TRAPPC2L skos:exactMatch ncbigene:51693 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C1426551 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:19943 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:TRAPPC4 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch ncbigene:51399 semapv:UnspecifiedMatching -OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:30801 semapv:UnspecifiedMatching -OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:AJAP1 semapv:UnspecifiedMatching -OMIM:610972 AJAP1 skos:exactMatch ncbigene:55966 semapv:UnspecifiedMatching -OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:26542 semapv:UnspecifiedMatching -OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:MPP7 semapv:UnspecifiedMatching -OMIM:610973 MPP7 skos:exactMatch ncbigene:143098 semapv:UnspecifiedMatching -OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:24605 semapv:UnspecifiedMatching -OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:ZNF521 semapv:UnspecifiedMatching -OMIM:610974 ZNF521 skos:exactMatch ncbigene:25925 semapv:UnspecifiedMatching -OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:32942 semapv:UnspecifiedMatching -OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:SEBOX semapv:UnspecifiedMatching -OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch ncbigene:645832 semapv:UnspecifiedMatching -OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:24100 semapv:UnspecifiedMatching -OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:APOBEC3H semapv:UnspecifiedMatching -OMIM:610976 APOBEC3H skos:exactMatch ncbigene:164668 semapv:UnspecifiedMatching -OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:16894 semapv:UnspecifiedMatching -OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:MFSD10 semapv:UnspecifiedMatching -OMIM:610977 tetracycline transporter-like protein skos:exactMatch ncbigene:10227 semapv:UnspecifiedMatching -OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:29023 semapv:UnspecifiedMatching -OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:PPIP5K1 semapv:UnspecifiedMatching -OMIM:610979 PPIP5K1 skos:exactMatch ncbigene:9677 semapv:UnspecifiedMatching -OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:13335 semapv:UnspecifiedMatching -OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:KCNQ1DN semapv:UnspecifiedMatching -OMIM:610980 KCNQ1DN skos:exactMatch ncbigene:55539 semapv:UnspecifiedMatching -OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:28389 semapv:UnspecifiedMatching -OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:WBP2NL semapv:UnspecifiedMatching -OMIM:610981 WBP2NL skos:exactMatch ncbigene:164684 semapv:UnspecifiedMatching -OMIM:610982 INF2 skos:exactMatch hgnc.symbol:23791 semapv:UnspecifiedMatching -OMIM:610982 INF2 skos:exactMatch hgnc.symbol:INF2 semapv:UnspecifiedMatching -OMIM:610982 INF2 skos:exactMatch ncbigene:64423 semapv:UnspecifiedMatching -OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:31782 semapv:UnspecifiedMatching -OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:MIR376C semapv:UnspecifiedMatching -OMIM:610983 MIR376C skos:exactMatch ncbigene:442913 semapv:UnspecifiedMatching -OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:30866 semapv:UnspecifiedMatching -OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:UEVLD semapv:UnspecifiedMatching -OMIM:610985 UEVLD skos:exactMatch ncbigene:55293 semapv:UnspecifiedMatching -OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:18608 semapv:UnspecifiedMatching -OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:LRRK1 semapv:UnspecifiedMatching -OMIM:610986 LRRK1 skos:exactMatch ncbigene:79705 semapv:UnspecifiedMatching -OMIM:610987 ASAH2B skos:exactMatch UMLS:C1540202 semapv:UnspecifiedMatching -OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:23456 semapv:UnspecifiedMatching -OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:ASAH2B semapv:UnspecifiedMatching -OMIM:610987 ASAH2B skos:exactMatch ncbigene:653308 semapv:UnspecifiedMatching -OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:17880 semapv:UnspecifiedMatching -OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:LMTK2 semapv:UnspecifiedMatching -OMIM:610989 LMTK2 skos:exactMatch ncbigene:22853 semapv:UnspecifiedMatching -OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:29413 semapv:UnspecifiedMatching -OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:PPP1R18 semapv:UnspecifiedMatching -OMIM:610990 PPP1R18 skos:exactMatch ncbigene:170954 semapv:UnspecifiedMatching -OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:29092 semapv:UnspecifiedMatching -OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:OBSL1 semapv:UnspecifiedMatching -OMIM:610991 OBSL1 skos:exactMatch ncbigene:23363 semapv:UnspecifiedMatching -OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch Orphanet:284417 semapv:UnspecifiedMatching -OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching -OMIM:610993 USP44 skos:exactMatch hgnc.symbol:20064 semapv:UnspecifiedMatching -OMIM:610993 USP44 skos:exactMatch hgnc.symbol:USP44 semapv:UnspecifiedMatching -OMIM:610993 USP44 skos:exactMatch ncbigene:84101 semapv:UnspecifiedMatching -OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:16735 semapv:UnspecifiedMatching -OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:PEDS1 semapv:UnspecifiedMatching -OMIM:610994 TMEM189 skos:exactMatch ncbigene:387521 semapv:UnspecifiedMatching -OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:20588 semapv:UnspecifiedMatching -OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:PCYOX1 semapv:UnspecifiedMatching -OMIM:610995 PCYOX1 skos:exactMatch ncbigene:51449 semapv:UnspecifiedMatching -OMIM:610996 DTD1 skos:exactMatch UMLS:C1970251 semapv:UnspecifiedMatching -OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:16219 semapv:UnspecifiedMatching -OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:DTD1 semapv:UnspecifiedMatching -OMIM:610996 DTD1 skos:exactMatch ncbigene:92675 semapv:UnspecifiedMatching -OMIM:610998 METRN skos:exactMatch hgnc.symbol:14151 semapv:UnspecifiedMatching -OMIM:610998 METRN skos:exactMatch hgnc.symbol:METRN semapv:UnspecifiedMatching -OMIM:610998 METRN skos:exactMatch ncbigene:79006 semapv:UnspecifiedMatching -OMIM:610999 EPC1 skos:exactMatch UMLS:C1426501 semapv:UnspecifiedMatching -OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:19876 semapv:UnspecifiedMatching -OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:EPC1 semapv:UnspecifiedMatching -OMIM:610999 EPC1 skos:exactMatch ncbigene:80314 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch UMLS:C1539360 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:24543 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:EPC2 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch ncbigene:26122 semapv:UnspecifiedMatching -OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:25674 semapv:UnspecifiedMatching -OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:MEAF6 semapv:UnspecifiedMatching -OMIM:611001 MEAF6 skos:exactMatch ncbigene:64769 semapv:UnspecifiedMatching -OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:14158 semapv:UnspecifiedMatching -OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:TMEM204 semapv:UnspecifiedMatching -OMIM:611002 TMEM204 skos:exactMatch ncbigene:79652 semapv:UnspecifiedMatching -OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:28040 semapv:UnspecifiedMatching -OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:MEX3C semapv:UnspecifiedMatching -OMIM:611005 MEX3C skos:exactMatch ncbigene:51320 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch UMLS:C1428729 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:28660 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:ISCA1 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch ncbigene:81689 semapv:UnspecifiedMatching -OMIM:611007 MEX3A skos:exactMatch UMLS:C1970246 semapv:UnspecifiedMatching -OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:33482 semapv:UnspecifiedMatching -OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:MEX3A semapv:UnspecifiedMatching -OMIM:611007 MEX3A skos:exactMatch ncbigene:92312 semapv:UnspecifiedMatching -OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:25297 semapv:UnspecifiedMatching -OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:MEX3B semapv:UnspecifiedMatching -OMIM:611008 MEX3B skos:exactMatch ncbigene:84206 semapv:UnspecifiedMatching -OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:16734 semapv:UnspecifiedMatching -OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:MEX3D semapv:UnspecifiedMatching -OMIM:611009 MEX3D skos:exactMatch ncbigene:399664 semapv:UnspecifiedMatching -OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:17039 semapv:UnspecifiedMatching -OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:TMEM259 semapv:UnspecifiedMatching -OMIM:611011 TMEM259 skos:exactMatch ncbigene:91304 semapv:UnspecifiedMatching -OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:18636 semapv:UnspecifiedMatching -OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:RGSL1 semapv:UnspecifiedMatching -OMIM:611012 RGSL1 skos:exactMatch ncbigene:353299 semapv:UnspecifiedMatching -OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:28531 semapv:UnspecifiedMatching -OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:TYSND1 semapv:UnspecifiedMatching -OMIM:611017 TYSND1 skos:exactMatch ncbigene:219743 semapv:UnspecifiedMatching -OMIM:611018 PAIP2B skos:exactMatch hgnc.symbol:29200 semapv:UnspecifiedMatching -OMIM:611018 PAIP2B skos:exactMatch hgnc.symbol:PAIP2B semapv:UnspecifiedMatching -OMIM:611018 PAIP2B skos:exactMatch ncbigene:400961 semapv:UnspecifiedMatching -OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:21723 semapv:UnspecifiedMatching -OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:ATP6V0E2 semapv:UnspecifiedMatching -OMIM:611019 ATP6V0E2 skos:exactMatch ncbigene:155066 semapv:UnspecifiedMatching -OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:31586 semapv:UnspecifiedMatching -OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:MIR21 semapv:UnspecifiedMatching -OMIM:611020 MIR21 skos:exactMatch ncbigene:406991 semapv:UnspecifiedMatching -OMIM:611021 NMD3 skos:exactMatch UMLS:C1538068 semapv:UnspecifiedMatching -OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:24250 semapv:UnspecifiedMatching -OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:NMD3 semapv:UnspecifiedMatching -OMIM:611021 NMD3 skos:exactMatch ncbigene:51068 semapv:UnspecifiedMatching -OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:23141 semapv:UnspecifiedMatching -OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:TRMT5 semapv:UnspecifiedMatching -OMIM:611023 TRMT5 skos:exactMatch ncbigene:57570 semapv:UnspecifiedMatching -OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:28854 semapv:UnspecifiedMatching -OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:ZNF667 semapv:UnspecifiedMatching -OMIM:611024 ZNF667 skos:exactMatch ncbigene:63934 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch UMLS:C1428701 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:28388 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:ENKUR semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch ncbigene:219670 semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch UMLS:C1427405 semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch hgnc.symbol:21197 semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch hgnc.symbol:FA2H semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch ncbigene:79152 semapv:UnspecifiedMatching -OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:29547 semapv:UnspecifiedMatching -OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:SHCBP1 semapv:UnspecifiedMatching -OMIM:611027 SHCBP1 skos:exactMatch ncbigene:79801 semapv:UnspecifiedMatching -OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:16667 semapv:UnspecifiedMatching -OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:TMEM30A semapv:UnspecifiedMatching -OMIM:611028 TMEM30A skos:exactMatch ncbigene:55754 semapv:UnspecifiedMatching -OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:27254 semapv:UnspecifiedMatching -OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:TMEM30B semapv:UnspecifiedMatching -OMIM:611029 TMEM30B skos:exactMatch ncbigene:161291 semapv:UnspecifiedMatching -OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:30443 semapv:UnspecifiedMatching -OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:TMEM30CP semapv:UnspecifiedMatching -OMIM:611030 TMEM30C skos:exactMatch ncbigene:644444 semapv:UnspecifiedMatching -OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:25184 semapv:UnspecifiedMatching -OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:SPATA17 semapv:UnspecifiedMatching -OMIM:611032 SPATA17 skos:exactMatch ncbigene:128153 semapv:UnspecifiedMatching -OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:13231 semapv:UnspecifiedMatching -OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:C11orf21 semapv:UnspecifiedMatching -OMIM:611033 C11ORF21 skos:exactMatch ncbigene:29125 semapv:UnspecifiedMatching -OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:10931 semapv:UnspecifiedMatching -OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:SLC17A3 semapv:UnspecifiedMatching -OMIM:611034 SLC17A3 skos:exactMatch ncbigene:10786 semapv:UnspecifiedMatching -OMIM:611035 APLF skos:exactMatch hgnc.symbol:28724 semapv:UnspecifiedMatching -OMIM:611035 APLF skos:exactMatch hgnc.symbol:APLF semapv:UnspecifiedMatching -OMIM:611035 APLF skos:exactMatch ncbigene:200558 semapv:UnspecifiedMatching -OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:15956 semapv:UnspecifiedMatching -OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:SLC2A13 semapv:UnspecifiedMatching -OMIM:611036 SLC2A13 skos:exactMatch ncbigene:114134 semapv:UnspecifiedMatching -OMIM:611037 SLC25A26 skos:exactMatch UMLS:C1427063 semapv:UnspecifiedMatching -OMIM:611037 SLC25A26 skos:exactMatch UMLS:C4225206 semapv:UnspecifiedMatching -OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:20661 semapv:UnspecifiedMatching -OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:SLC25A26 semapv:UnspecifiedMatching -OMIM:611037 SLC25A26 skos:exactMatch ncbigene:115286 semapv:UnspecifiedMatching -OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:18301 semapv:UnspecifiedMatching -OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:SLC2A14 semapv:UnspecifiedMatching -OMIM:611039 SLC2A14 skos:exactMatch ncbigene:144195 semapv:UnspecifiedMatching -OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:19020 semapv:UnspecifiedMatching -OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:TRIM47 semapv:UnspecifiedMatching -OMIM:611041 TRIM47 skos:exactMatch ncbigene:91107 semapv:UnspecifiedMatching -OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:32046 semapv:UnspecifiedMatching -OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:LELP1 semapv:UnspecifiedMatching -OMIM:611042 LELP1 skos:exactMatch ncbigene:149018 semapv:UnspecifiedMatching -OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:15986 semapv:UnspecifiedMatching -OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:LIN28A semapv:UnspecifiedMatching -OMIM:611043 LIN28A skos:exactMatch ncbigene:79727 semapv:UnspecifiedMatching -OMIM:611044 LIN28B skos:exactMatch UMLS:C1825819 semapv:UnspecifiedMatching -OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:32207 semapv:UnspecifiedMatching -OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:LIN28B semapv:UnspecifiedMatching -OMIM:611044 LIN28B skos:exactMatch ncbigene:389421 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch UMLS:C1428419 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:24861 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:G6PC3 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch ncbigene:92579 semapv:UnspecifiedMatching -OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:16798 semapv:UnspecifiedMatching -OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:RAET1L semapv:UnspecifiedMatching -OMIM:611047 RAET1L skos:exactMatch ncbigene:154064 semapv:UnspecifiedMatching -OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:14375 semapv:UnspecifiedMatching -OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:PPP1R15A semapv:UnspecifiedMatching -OMIM:611048 PPP1R15A skos:exactMatch ncbigene:23645 semapv:UnspecifiedMatching -OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:10930 semapv:UnspecifiedMatching -OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:SLC17A2 semapv:UnspecifiedMatching -OMIM:611049 SLC17A2 skos:exactMatch ncbigene:10246 semapv:UnspecifiedMatching -OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:33955 semapv:UnspecifiedMatching -OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:LUZP6 semapv:UnspecifiedMatching -OMIM:611050 LUZP6 skos:exactMatch ncbigene:767558 semapv:UnspecifiedMatching -OMIM:611051 CCDC50 skos:exactMatch hgnc.symbol:18111 semapv:UnspecifiedMatching -OMIM:611051 CCDC50 skos:exactMatch hgnc.symbol:CCDC50 semapv:UnspecifiedMatching -OMIM:611051 CCDC50 skos:exactMatch ncbigene:152137 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch UMLS:C1822684 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch UMLS:C5394583 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch UMLS:C5394584 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:29010 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:SETD1A semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch ncbigene:9739 semapv:UnspecifiedMatching -OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:23625 semapv:UnspecifiedMatching -OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:RUSC2 semapv:UnspecifiedMatching -OMIM:611053 RUSC2 skos:exactMatch ncbigene:9853 semapv:UnspecifiedMatching -OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:9245 semapv:UnspecifiedMatching -OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:PPFIA1 semapv:UnspecifiedMatching -OMIM:611054 PPFIA1 skos:exactMatch ncbigene:8500 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch UMLS:C1822685 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:29187 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:SETD1B semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch ncbigene:23067 semapv:UnspecifiedMatching -OMIM:611056 SCLY skos:exactMatch hgnc.symbol:18161 semapv:UnspecifiedMatching -OMIM:611056 SCLY skos:exactMatch hgnc.symbol:SCLY semapv:UnspecifiedMatching -OMIM:611056 SCLY skos:exactMatch ncbigene:51540 semapv:UnspecifiedMatching -OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:30024 semapv:UnspecifiedMatching -OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:PEX5L semapv:UnspecifiedMatching -OMIM:611058 PEX5L skos:exactMatch ncbigene:51555 semapv:UnspecifiedMatching -OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:28826 semapv:UnspecifiedMatching -OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:WDR82 semapv:UnspecifiedMatching -OMIM:611059 WDR82 skos:exactMatch ncbigene:80335 semapv:UnspecifiedMatching -OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:15573 semapv:UnspecifiedMatching -OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:SETBP1 semapv:UnspecifiedMatching -OMIM:611060 SETBP1 skos:exactMatch ncbigene:26040 semapv:UnspecifiedMatching -OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:22140 semapv:UnspecifiedMatching -OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:FAM20C semapv:UnspecifiedMatching -OMIM:611061 FAM20C skos:exactMatch ncbigene:56975 semapv:UnspecifiedMatching -OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:23015 semapv:UnspecifiedMatching -OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:FAM20A semapv:UnspecifiedMatching -OMIM:611062 FAM20A skos:exactMatch ncbigene:54757 semapv:UnspecifiedMatching -OMIM:611063 FAM20B skos:exactMatch UMLS:C1427852 semapv:UnspecifiedMatching -OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:23017 semapv:UnspecifiedMatching -OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:FAM20B semapv:UnspecifiedMatching -OMIM:611063 FAM20B skos:exactMatch ncbigene:9917 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch UMLS:C1538710 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:25415 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:PPM1K semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch ncbigene:152926 semapv:UnspecifiedMatching -OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:29149 semapv:UnspecifiedMatching -OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:PHLPP2 semapv:UnspecifiedMatching -OMIM:611066 PHLPPL skos:exactMatch ncbigene:23035 semapv:UnspecifiedMatching -OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:10182 semapv:UnspecifiedMatching -OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:SNORD43 semapv:UnspecifiedMatching -OMIM:611068 SNORD43 skos:exactMatch ncbigene:26807 semapv:UnspecifiedMatching -OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:50421 semapv:UnspecifiedMatching -OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:SNORD139 semapv:UnspecifiedMatching -OMIM:611069 rna, u86 small nucleolar skos:exactMatch ncbigene:116936 semapv:UnspecifiedMatching -OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:17131 semapv:UnspecifiedMatching -OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:SNORD83A semapv:UnspecifiedMatching -OMIM:611070 SNORD83A skos:exactMatch ncbigene:116937 semapv:UnspecifiedMatching -OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:17132 semapv:UnspecifiedMatching -OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:SNORD83B semapv:UnspecifiedMatching -OMIM:611071 SNORD83B skos:exactMatch ncbigene:116938 semapv:UnspecifiedMatching -OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:26979 semapv:UnspecifiedMatching -OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:DNAJC24 semapv:UnspecifiedMatching -OMIM:611072 DNAJC24 skos:exactMatch ncbigene:120526 semapv:UnspecifiedMatching -OMIM:611074 BSX skos:exactMatch UMLS:C1970208 semapv:UnspecifiedMatching -OMIM:611074 BSX skos:exactMatch hgnc.symbol:20450 semapv:UnspecifiedMatching -OMIM:611074 BSX skos:exactMatch hgnc.symbol:BSX semapv:UnspecifiedMatching -OMIM:611074 BSX skos:exactMatch ncbigene:390259 semapv:UnspecifiedMatching -OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:24270 semapv:UnspecifiedMatching -OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:DPH5 semapv:UnspecifiedMatching -OMIM:611075 DPH5 skos:exactMatch ncbigene:51611 semapv:UnspecifiedMatching -OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:30826 semapv:UnspecifiedMatching -OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:NT5DC3 semapv:UnspecifiedMatching -OMIM:611076 NT5DC3 skos:exactMatch ncbigene:51559 semapv:UnspecifiedMatching -OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:26467 semapv:UnspecifiedMatching -OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:CHCHD4 semapv:UnspecifiedMatching -OMIM:611077 CHCHD4 skos:exactMatch ncbigene:131474 semapv:UnspecifiedMatching -OMIM:611078 CBWD1 skos:exactMatch hgnc.symbol:ZNG1A semapv:UnspecifiedMatching -OMIM:611078 CBWD1 skos:exactMatch ncbigene:55871 semapv:UnspecifiedMatching -OMIM:611079 CBWD2 skos:exactMatch hgnc.symbol:ZNG1B semapv:UnspecifiedMatching -OMIM:611079 CBWD2 skos:exactMatch ncbigene:150472 semapv:UnspecifiedMatching -OMIM:611080 CBWD3 skos:exactMatch hgnc.symbol:ZNG1C semapv:UnspecifiedMatching -OMIM:611080 CBWD3 skos:exactMatch ncbigene:445571 semapv:UnspecifiedMatching -OMIM:611081 inflammatory bowel disease (crohn disease) 10 skos:exactMatch UMLS:C1970207 semapv:UnspecifiedMatching -OMIM:611082 MIAT skos:exactMatch hgnc.symbol:33425 semapv:UnspecifiedMatching -OMIM:611082 MIAT skos:exactMatch hgnc.symbol:MIAT semapv:UnspecifiedMatching -OMIM:611082 MIAT skos:exactMatch ncbigene:440823 semapv:UnspecifiedMatching -OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:16354 semapv:UnspecifiedMatching -OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:ADHFE1 semapv:UnspecifiedMatching -OMIM:611083 ADHFE1 skos:exactMatch ncbigene:137872 semapv:UnspecifiedMatching -OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:18521 semapv:UnspecifiedMatching -OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:FOXD4L1 semapv:UnspecifiedMatching -OMIM:611084 FOXD4L1 skos:exactMatch ncbigene:200350 semapv:UnspecifiedMatching -OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:23762 semapv:UnspecifiedMatching -OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:FOXD4L4 semapv:UnspecifiedMatching -OMIM:611085 FOXD4L4 skos:exactMatch ncbigene:349334 semapv:UnspecifiedMatching -OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:18523 semapv:UnspecifiedMatching -OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:FOXD4L3 semapv:UnspecifiedMatching -OMIM:611086 FOXD4L3 skos:exactMatch ncbigene:286380 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch UMLS:C1824589 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch UMLS:C3809701 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:29937 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:CCDC65 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch ncbigene:85478 semapv:UnspecifiedMatching -OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:26190 semapv:UnspecifiedMatching -OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:MTMR14 semapv:UnspecifiedMatching -OMIM:611089 MTMR14 skos:exactMatch ncbigene:64419 semapv:UnspecifiedMatching -OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching -OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching -OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:21923 semapv:UnspecifiedMatching -OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:STEAP4 semapv:UnspecifiedMatching -OMIM:611098 STEAP4 skos:exactMatch ncbigene:79689 semapv:UnspecifiedMatching -OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:30168 semapv:UnspecifiedMatching -OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:PDIA6 semapv:UnspecifiedMatching -OMIM:611099 PDIA6 skos:exactMatch ncbigene:10130 semapv:UnspecifiedMatching -OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:29105 semapv:UnspecifiedMatching -OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:PLEKHG5 semapv:UnspecifiedMatching -OMIM:611101 PLEKHG5 skos:exactMatch ncbigene:57449 semapv:UnspecifiedMatching -OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:21497 semapv:UnspecifiedMatching -OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:ACAD9 semapv:UnspecifiedMatching -OMIM:611103 ACAD9 skos:exactMatch ncbigene:28976 semapv:UnspecifiedMatching -OMIM:611104 FGD4 skos:exactMatch UMLS:C1426031 semapv:UnspecifiedMatching -OMIM:611104 FGD4 skos:exactMatch UMLS:C1836336 semapv:UnspecifiedMatching -OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:19125 semapv:UnspecifiedMatching -OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:FGD4 semapv:UnspecifiedMatching -OMIM:611104 FGD4 skos:exactMatch ncbigene:121512 semapv:UnspecifiedMatching -OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:21175 semapv:UnspecifiedMatching -OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:ZC3H12D semapv:UnspecifiedMatching -OMIM:611106 ZC3H12D skos:exactMatch ncbigene:340152 semapv:UnspecifiedMatching -OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:30200 semapv:UnspecifiedMatching -OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:VWC2 semapv:UnspecifiedMatching -OMIM:611108 VWC2 skos:exactMatch ncbigene:375567 semapv:UnspecifiedMatching -OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:16457 semapv:UnspecifiedMatching -OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:MAP3K7CL semapv:UnspecifiedMatching -OMIM:611110 MAP3K7CL skos:exactMatch ncbigene:56911 semapv:UnspecifiedMatching -OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:19201 semapv:UnspecifiedMatching -OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:DPPA5 semapv:UnspecifiedMatching -OMIM:611111 DPPA5 skos:exactMatch ncbigene:340168 semapv:UnspecifiedMatching -OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:30745 semapv:UnspecifiedMatching -OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:DACT3 semapv:UnspecifiedMatching -OMIM:611112 DACT3 skos:exactMatch ncbigene:147906 semapv:UnspecifiedMatching -OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:32553 semapv:UnspecifiedMatching -OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:CEMP1 semapv:UnspecifiedMatching -OMIM:611113 CEMP1 skos:exactMatch ncbigene:752014 semapv:UnspecifiedMatching -OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:31537 semapv:UnspecifiedMatching -OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:MIR150 semapv:UnspecifiedMatching -OMIM:611114 MIR150 skos:exactMatch ncbigene:406942 semapv:UnspecifiedMatching -OMIM:611115 VWCE skos:exactMatch hgnc.symbol:26487 semapv:UnspecifiedMatching -OMIM:611115 VWCE skos:exactMatch hgnc.symbol:VWCE semapv:UnspecifiedMatching -OMIM:611115 VWCE skos:exactMatch ncbigene:220001 semapv:UnspecifiedMatching -OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:31585 semapv:UnspecifiedMatching -OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:MIR208A semapv:UnspecifiedMatching -OMIM:611116 MIR208A skos:exactMatch ncbigene:406990 semapv:UnspecifiedMatching -OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:30178 semapv:UnspecifiedMatching -OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:PPME1 semapv:UnspecifiedMatching -OMIM:611117 PPME1 skos:exactMatch ncbigene:51400 semapv:UnspecifiedMatching -OMIM:611118 NARFL skos:exactMatch hgnc.symbol:14179 semapv:UnspecifiedMatching -OMIM:611118 NARFL skos:exactMatch hgnc.symbol:CIAO3 semapv:UnspecifiedMatching -OMIM:611118 NARFL skos:exactMatch ncbigene:64428 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch UMLS:C1423635 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:15646 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:KLHL7 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch ncbigene:55975 semapv:UnspecifiedMatching -OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:16253 semapv:UnspecifiedMatching -OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:SPTLC3 semapv:UnspecifiedMatching -OMIM:611120 SPTLC3 skos:exactMatch ncbigene:55304 semapv:UnspecifiedMatching -OMIM:611121 CLMN skos:exactMatch hgnc.symbol:19972 semapv:UnspecifiedMatching -OMIM:611121 CLMN skos:exactMatch hgnc.symbol:CLMN semapv:UnspecifiedMatching -OMIM:611121 CLMN skos:exactMatch ncbigene:79789 semapv:UnspecifiedMatching -OMIM:611122 ANKRD28 skos:exactMatch hgnc.symbol:29024 semapv:UnspecifiedMatching -OMIM:611122 ANKRD28 skos:exactMatch hgnc.symbol:ANKRD28 semapv:UnspecifiedMatching -OMIM:611122 ANKRD28 skos:exactMatch ncbigene:23243 semapv:UnspecifiedMatching -OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:19987 semapv:UnspecifiedMatching -OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:EPHA10 semapv:UnspecifiedMatching -OMIM:611123 EPHA10 skos:exactMatch ncbigene:284656 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch UMLS:C1970174 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch UMLS:C4015371 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:28486 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:MFSD8 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch ncbigene:256471 semapv:UnspecifiedMatching -OMIM:611125 DSEL skos:exactMatch hgnc.symbol:18144 semapv:UnspecifiedMatching -OMIM:611125 DSEL skos:exactMatch hgnc.symbol:DSEL semapv:UnspecifiedMatching -OMIM:611125 DSEL skos:exactMatch ncbigene:92126 semapv:UnspecifiedMatching -OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:32309 semapv:UnspecifiedMatching -OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:UBL4B semapv:UnspecifiedMatching -OMIM:611127 UBL4B skos:exactMatch ncbigene:164153 semapv:UnspecifiedMatching -OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:19835 semapv:UnspecifiedMatching -OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:MDGA2 semapv:UnspecifiedMatching -OMIM:611128 MDGA2 skos:exactMatch ncbigene:161357 semapv:UnspecifiedMatching -OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:23510 semapv:UnspecifiedMatching -OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:WBP1L semapv:UnspecifiedMatching -OMIM:611129 WBP1L skos:exactMatch ncbigene:54838 semapv:UnspecifiedMatching -OMIM:611130 CHMP7 skos:exactMatch UMLS:C1538462 semapv:UnspecifiedMatching -OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:28439 semapv:UnspecifiedMatching -OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:CHMP7 semapv:UnspecifiedMatching -OMIM:611130 CHMP7 skos:exactMatch ncbigene:91782 semapv:UnspecifiedMatching -OMIM:611132 RBKS skos:exactMatch hgnc.symbol:30325 semapv:UnspecifiedMatching -OMIM:611132 RBKS skos:exactMatch hgnc.symbol:RBKS semapv:UnspecifiedMatching -OMIM:611132 RBKS skos:exactMatch ncbigene:64080 semapv:UnspecifiedMatching -OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:10240 semapv:UnspecifiedMatching -OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:SNORD82 semapv:UnspecifiedMatching -OMIM:611133 SNORD82 skos:exactMatch ncbigene:25826 semapv:UnspecifiedMatching -OMIM:611135 KLB skos:exactMatch hgnc.symbol:15527 semapv:UnspecifiedMatching -OMIM:611135 KLB skos:exactMatch hgnc.symbol:KLB semapv:UnspecifiedMatching -OMIM:611135 KLB skos:exactMatch ncbigene:152831 semapv:UnspecifiedMatching -OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:31963 semapv:UnspecifiedMatching -OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:PSMB11 semapv:UnspecifiedMatching -OMIM:611137 PSMB11 skos:exactMatch ncbigene:122706 semapv:UnspecifiedMatching -OMIM:611138 STRBP skos:exactMatch hgnc.symbol:16462 semapv:UnspecifiedMatching -OMIM:611138 STRBP skos:exactMatch hgnc.symbol:STRBP semapv:UnspecifiedMatching -OMIM:611138 STRBP skos:exactMatch ncbigene:55342 semapv:UnspecifiedMatching -OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:29099 semapv:UnspecifiedMatching -OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:TELO2 semapv:UnspecifiedMatching -OMIM:611140 TELO2 skos:exactMatch ncbigene:9894 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch UMLS:C1537693 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:30577 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:MIB2 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch ncbigene:142678 semapv:UnspecifiedMatching -OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:28959 semapv:UnspecifiedMatching -OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:CKAP5 semapv:UnspecifiedMatching -OMIM:611142 CKAP5 skos:exactMatch ncbigene:9793 semapv:UnspecifiedMatching -OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:25829 semapv:UnspecifiedMatching -OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:ABRAXAS1 semapv:UnspecifiedMatching -OMIM:611143 ABRAXAS1 skos:exactMatch ncbigene:84142 semapv:UnspecifiedMatching -OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:28975 semapv:UnspecifiedMatching -OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:ABRAXAS2 semapv:UnspecifiedMatching -OMIM:611144 ABRAXAS2 skos:exactMatch ncbigene:23172 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch UMLS:C1426844 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch UMLS:C4017238 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:20303 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:SLC30A8 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch ncbigene:169026 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch UMLS:C1822757 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:25355 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:SLC30A10 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch ncbigene:55532 semapv:UnspecifiedMatching -OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:19305 semapv:UnspecifiedMatching -OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:SLC30A6 semapv:UnspecifiedMatching -OMIM:611148 SLC30A6 skos:exactMatch ncbigene:55676 semapv:UnspecifiedMatching -OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:19306 semapv:UnspecifiedMatching -OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:SLC30A7 semapv:UnspecifiedMatching -OMIM:611149 SLC30A7 skos:exactMatch ncbigene:148867 semapv:UnspecifiedMatching -OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:10549 semapv:UnspecifiedMatching -OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:ATXN10 semapv:UnspecifiedMatching -OMIM:611150 ATXN10 skos:exactMatch ncbigene:25814 semapv:UnspecifiedMatching -OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:24974 semapv:UnspecifiedMatching -OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:TRMT2A semapv:UnspecifiedMatching -OMIM:611151 TRMT2A skos:exactMatch ncbigene:27037 semapv:UnspecifiedMatching -OMIM:611153 XPA skos:exactMatch hgnc.symbol:12814 semapv:UnspecifiedMatching -OMIM:611153 XPA skos:exactMatch hgnc.symbol:XPA semapv:UnspecifiedMatching -OMIM:611153 XPA skos:exactMatch ncbigene:7507 semapv:UnspecifiedMatching -OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:23703 semapv:UnspecifiedMatching -OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:ERMP1 semapv:UnspecifiedMatching -OMIM:611156 ERMP1 skos:exactMatch ncbigene:79956 semapv:UnspecifiedMatching -OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:15866 semapv:UnspecifiedMatching -OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:MRGBP semapv:UnspecifiedMatching -OMIM:611157 MRGBP skos:exactMatch ncbigene:55257 semapv:UnspecifiedMatching -OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:20411 semapv:UnspecifiedMatching -OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:KRT77 semapv:UnspecifiedMatching -OMIM:611158 KRT77 skos:exactMatch ncbigene:374454 semapv:UnspecifiedMatching -OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:28926 semapv:UnspecifiedMatching -OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:KRT78 semapv:UnspecifiedMatching -OMIM:611159 KRT78 skos:exactMatch ncbigene:196374 semapv:UnspecifiedMatching -OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:28930 semapv:UnspecifiedMatching -OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:KRT79 semapv:UnspecifiedMatching -OMIM:611160 KRT79 skos:exactMatch ncbigene:338785 semapv:UnspecifiedMatching -OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:27056 semapv:UnspecifiedMatching -OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:KRT80 semapv:UnspecifiedMatching -OMIM:611161 KRT80 skos:exactMatch ncbigene:144501 semapv:UnspecifiedMatching -OMIM:611162 malaria, susceptibility to skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching -OMIM:611162 malaria, susceptibility to skos:exactMatch UMLS:C1970028 semapv:UnspecifiedMatching -OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:16095 semapv:UnspecifiedMatching -OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:TOX2 semapv:UnspecifiedMatching -OMIM:611163 TOX2 skos:exactMatch ncbigene:84969 semapv:UnspecifiedMatching -OMIM:611164 ARGFX skos:exactMatch UMLS:C1824195 semapv:UnspecifiedMatching -OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:30146 semapv:UnspecifiedMatching -OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:ARGFX semapv:UnspecifiedMatching -OMIM:611164 ARGFX skos:exactMatch ncbigene:503582 semapv:UnspecifiedMatching -OMIM:611165 DPRX skos:exactMatch UMLS:C1824964 semapv:UnspecifiedMatching -OMIM:611165 DPRX skos:exactMatch hgnc.symbol:32166 semapv:UnspecifiedMatching -OMIM:611165 DPRX skos:exactMatch hgnc.symbol:DPRX semapv:UnspecifiedMatching -OMIM:611165 DPRX skos:exactMatch ncbigene:503834 semapv:UnspecifiedMatching -OMIM:611166 TPRX1 skos:exactMatch UMLS:C1823470 semapv:UnspecifiedMatching -OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:32174 semapv:UnspecifiedMatching -OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:TPRX1 semapv:UnspecifiedMatching -OMIM:611166 TPRX1 skos:exactMatch ncbigene:284355 semapv:UnspecifiedMatching -OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:32178 semapv:UnspecifiedMatching -OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:TPRXL semapv:UnspecifiedMatching -OMIM:611167 TPRXL skos:exactMatch ncbigene:348825 semapv:UnspecifiedMatching -OMIM:611168 DUXA skos:exactMatch UMLS:C1824994 semapv:UnspecifiedMatching -OMIM:611168 DUXA skos:exactMatch hgnc.symbol:32179 semapv:UnspecifiedMatching -OMIM:611168 DUXA skos:exactMatch hgnc.symbol:DUXA semapv:UnspecifiedMatching -OMIM:611168 DUXA skos:exactMatch ncbigene:503835 semapv:UnspecifiedMatching -OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:20500 semapv:UnspecifiedMatching -OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:CATSPERB semapv:UnspecifiedMatching -OMIM:611169 CATSPERB skos:exactMatch ncbigene:79820 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch UMLS:C1826970 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:1349 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:SAMD9L semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch ncbigene:219285 semapv:UnspecifiedMatching -OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:29319 semapv:UnspecifiedMatching -OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:SHTN1 semapv:UnspecifiedMatching -OMIM:611171 SHTN1 skos:exactMatch ncbigene:57698 semapv:UnspecifiedMatching -OMIM:611172 MIR34A skos:exactMatch UMLS:C1537745 semapv:UnspecifiedMatching -OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:31635 semapv:UnspecifiedMatching -OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:MIR34A semapv:UnspecifiedMatching -OMIM:611172 MIR34A skos:exactMatch ncbigene:407040 semapv:UnspecifiedMatching -OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:31868 semapv:UnspecifiedMatching -OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:MIR375 semapv:UnspecifiedMatching -OMIM:611173 MIR375 skos:exactMatch ncbigene:494324 semapv:UnspecifiedMatching -OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:28833 semapv:UnspecifiedMatching -OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:OLA1 semapv:UnspecifiedMatching -OMIM:611175 OLA1 skos:exactMatch ncbigene:29789 semapv:UnspecifiedMatching -OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:20184 semapv:UnspecifiedMatching -OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:JKAMP semapv:UnspecifiedMatching -OMIM:611176 JKAMP skos:exactMatch ncbigene:51528 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch UMLS:C1825570 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch UMLS:C4017239 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch UMLS:C4017240 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:29262 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:IFT80 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch ncbigene:57560 semapv:UnspecifiedMatching -OMIM:611178 GALP skos:exactMatch hgnc.symbol:24840 semapv:UnspecifiedMatching -OMIM:611178 GALP skos:exactMatch hgnc.symbol:GALP semapv:UnspecifiedMatching -OMIM:611178 GALP skos:exactMatch ncbigene:85569 semapv:UnspecifiedMatching -OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:24084 semapv:UnspecifiedMatching -OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:SHROOM1 semapv:UnspecifiedMatching -OMIM:611179 SHROOM1 skos:exactMatch ncbigene:134549 semapv:UnspecifiedMatching -OMIM:611180 NELFB skos:exactMatch hgnc.symbol:24324 semapv:UnspecifiedMatching -OMIM:611180 NELFB skos:exactMatch hgnc.symbol:NELFB semapv:UnspecifiedMatching -OMIM:611180 NELFB skos:exactMatch ncbigene:25920 semapv:UnspecifiedMatching -OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:21597 semapv:UnspecifiedMatching -OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:ACAD10 semapv:UnspecifiedMatching -OMIM:611181 ACAD10 skos:exactMatch ncbigene:80724 semapv:UnspecifiedMatching -OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch Orphanet:95428 semapv:UnspecifiedMatching -OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching -OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:23057 semapv:UnspecifiedMatching -OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:BRK1 semapv:UnspecifiedMatching -OMIM:611183 BRK1 skos:exactMatch ncbigene:55845 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C0272051 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C1539428 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017241 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017242 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4749121 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:28993 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:PIEZO1 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch ncbigene:9780 semapv:UnspecifiedMatching -OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:31641 semapv:UnspecifiedMatching -OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:MIR9-1 semapv:UnspecifiedMatching -OMIM:611186 MIR9-1 skos:exactMatch ncbigene:407046 semapv:UnspecifiedMatching -OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:31642 semapv:UnspecifiedMatching -OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:MIR9-2 semapv:UnspecifiedMatching -OMIM:611187 MIR9-2 skos:exactMatch ncbigene:407047 semapv:UnspecifiedMatching -OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:31646 semapv:UnspecifiedMatching -OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:MIR9-3 semapv:UnspecifiedMatching -OMIM:611188 MIR9-3 skos:exactMatch ncbigene:407051 semapv:UnspecifiedMatching -OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:31569 semapv:UnspecifiedMatching -OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:MIR197 semapv:UnspecifiedMatching -OMIM:611189 MIR197 skos:exactMatch ncbigene:406974 semapv:UnspecifiedMatching -OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:31780 semapv:UnspecifiedMatching -OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:MIR346 semapv:UnspecifiedMatching -OMIM:611190 MIR346 skos:exactMatch ncbigene:442911 semapv:UnspecifiedMatching -OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:31505 semapv:UnspecifiedMatching -OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:MIR125A semapv:UnspecifiedMatching -OMIM:611191 MIR125A skos:exactMatch ncbigene:406910 semapv:UnspecifiedMatching -OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:21316 semapv:UnspecifiedMatching -OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:ANKRD11 semapv:UnspecifiedMatching -OMIM:611192 ANKRD11 skos:exactMatch ncbigene:29123 semapv:UnspecifiedMatching -OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:24255 semapv:UnspecifiedMatching -OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:RRP15 semapv:UnspecifiedMatching -OMIM:611193 RRP15 skos:exactMatch ncbigene:51018 semapv:UnspecifiedMatching -OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:30285 semapv:UnspecifiedMatching -OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:RUFY3 semapv:UnspecifiedMatching -OMIM:611194 RUFY3 skos:exactMatch ncbigene:22902 semapv:UnspecifiedMatching -OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:26460 semapv:UnspecifiedMatching -OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:JAKMIP1 semapv:UnspecifiedMatching -OMIM:611195 JAKMIP1 skos:exactMatch ncbigene:152789 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch UMLS:C1823957 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:22229 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:ZMIZ2 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch ncbigene:83637 semapv:UnspecifiedMatching -OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:29067 semapv:UnspecifiedMatching -OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:JAKMIP2 semapv:UnspecifiedMatching -OMIM:611197 JAKMIP2 skos:exactMatch ncbigene:9832 semapv:UnspecifiedMatching -OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:23523 semapv:UnspecifiedMatching -OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:JAKMIP3 semapv:UnspecifiedMatching -OMIM:611198 JAKMIP3 skos:exactMatch ncbigene:282973 semapv:UnspecifiedMatching -OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:24013 semapv:UnspecifiedMatching -OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:DNTTIP2 semapv:UnspecifiedMatching -OMIM:611199 DNTTIP2 skos:exactMatch ncbigene:30836 semapv:UnspecifiedMatching -OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:21339 semapv:UnspecifiedMatching -OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:TDRD6 semapv:UnspecifiedMatching -OMIM:611200 TDRD6 skos:exactMatch ncbigene:221400 semapv:UnspecifiedMatching -OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:18732 semapv:UnspecifiedMatching -OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:KLHL9 semapv:UnspecifiedMatching -OMIM:611201 KLHL9 skos:exactMatch ncbigene:55958 semapv:UnspecifiedMatching -OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:18860 semapv:UnspecifiedMatching -OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:ASAH2 semapv:UnspecifiedMatching -OMIM:611202 ASAH2 skos:exactMatch ncbigene:56624 semapv:UnspecifiedMatching -OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:16235 semapv:UnspecifiedMatching -OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:DNAJC5 semapv:UnspecifiedMatching -OMIM:611203 DNAJC5 skos:exactMatch ncbigene:80331 semapv:UnspecifiedMatching -OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:19967 semapv:UnspecifiedMatching -OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:CCDC88C semapv:UnspecifiedMatching -OMIM:611204 CCDC88C skos:exactMatch ncbigene:440193 semapv:UnspecifiedMatching -OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:26757 semapv:UnspecifiedMatching -OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:CCDC88B semapv:UnspecifiedMatching -OMIM:611205 CCDC88B skos:exactMatch ncbigene:283234 semapv:UnspecifiedMatching -OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:19123 semapv:UnspecifiedMatching -OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:DNAJC9 semapv:UnspecifiedMatching -OMIM:611206 DNAJC9 skos:exactMatch ncbigene:23234 semapv:UnspecifiedMatching -OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:20090 semapv:UnspecifiedMatching -OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:DNAJC1 semapv:UnspecifiedMatching -OMIM:611207 DNAJC1 skos:exactMatch ncbigene:64215 semapv:UnspecifiedMatching -OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:25127 semapv:UnspecifiedMatching -OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:HNRNPLL semapv:UnspecifiedMatching -OMIM:611208 HNRNPLL skos:exactMatch ncbigene:92906 semapv:UnspecifiedMatching -OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch Orphanet:263508 semapv:UnspecifiedMatching -OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch UMLS:C2931011 semapv:UnspecifiedMatching -OMIM:611210 PBK skos:exactMatch hgnc.symbol:18282 semapv:UnspecifiedMatching -OMIM:611210 PBK skos:exactMatch hgnc.symbol:PBK semapv:UnspecifiedMatching -OMIM:611210 PBK skos:exactMatch ncbigene:55872 semapv:UnspecifiedMatching -OMIM:611211 RELT skos:exactMatch hgnc.symbol:13764 semapv:UnspecifiedMatching -OMIM:611211 RELT skos:exactMatch hgnc.symbol:RELT semapv:UnspecifiedMatching -OMIM:611211 RELT skos:exactMatch ncbigene:84957 semapv:UnspecifiedMatching -OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:27379 semapv:UnspecifiedMatching -OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:RELL1 semapv:UnspecifiedMatching -OMIM:611212 RELL1 skos:exactMatch ncbigene:768211 semapv:UnspecifiedMatching -OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:26902 semapv:UnspecifiedMatching -OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:RELL2 semapv:UnspecifiedMatching -OMIM:611213 RELL2 skos:exactMatch ncbigene:285613 semapv:UnspecifiedMatching -OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:25542 semapv:UnspecifiedMatching -OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:TSR1 semapv:UnspecifiedMatching -OMIM:611214 TSR1 skos:exactMatch ncbigene:55720 semapv:UnspecifiedMatching -OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:33235 semapv:UnspecifiedMatching -OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:PWRN1 semapv:UnspecifiedMatching -OMIM:611215 PWRN1 skos:exactMatch ncbigene:791114 semapv:UnspecifiedMatching -OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:14860 semapv:UnspecifiedMatching -OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:UBXN4 semapv:UnspecifiedMatching -OMIM:611216 UBXN4 skos:exactMatch ncbigene:23190 semapv:UnspecifiedMatching -OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:33236 semapv:UnspecifiedMatching -OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:PWRN2 semapv:UnspecifiedMatching -OMIM:611217 PWRN2 skos:exactMatch ncbigene:791115 semapv:UnspecifiedMatching -OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:13311 semapv:UnspecifiedMatching -OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:GSDMA semapv:UnspecifiedMatching -OMIM:611218 GSDMA skos:exactMatch ncbigene:284110 semapv:UnspecifiedMatching -OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:30594 semapv:UnspecifiedMatching -OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:UNC45A semapv:UnspecifiedMatching -OMIM:611219 UNC45A skos:exactMatch ncbigene:55898 semapv:UnspecifiedMatching -OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:14304 semapv:UnspecifiedMatching -OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:UNC45B semapv:UnspecifiedMatching -OMIM:611220 UNC45B skos:exactMatch ncbigene:146862 semapv:UnspecifiedMatching -OMIM:611221 GSDMB skos:exactMatch UMLS:C1428195 semapv:UnspecifiedMatching -OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:23690 semapv:UnspecifiedMatching -OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:GSDMB semapv:UnspecifiedMatching -OMIM:611221 GSDMB skos:exactMatch ncbigene:55876 semapv:UnspecifiedMatching -OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:393 semapv:UnspecifiedMatching -OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:AKT3 semapv:UnspecifiedMatching -OMIM:611223 AKT3 skos:exactMatch ncbigene:10000 semapv:UnspecifiedMatching -OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:11449 semapv:UnspecifiedMatching -OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:SUCLG1 semapv:UnspecifiedMatching -OMIM:611224 SUCLG1 skos:exactMatch ncbigene:8802 semapv:UnspecifiedMatching -OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:30964 semapv:UnspecifiedMatching -OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:ARMC3 semapv:UnspecifiedMatching -OMIM:611226 ARMC3 skos:exactMatch ncbigene:219681 semapv:UnspecifiedMatching -OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:28240 semapv:UnspecifiedMatching -OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:HVCN1 semapv:UnspecifiedMatching -OMIM:611227 HVCN1 skos:exactMatch ncbigene:84329 semapv:UnspecifiedMatching -OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:25222 semapv:UnspecifiedMatching -OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:ERLEC1 semapv:UnspecifiedMatching -OMIM:611229 ERLEC1 skos:exactMatch ncbigene:27248 semapv:UnspecifiedMatching -OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:25071 semapv:UnspecifiedMatching -OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:NCAPH2 semapv:UnspecifiedMatching -OMIM:611230 NCAPH2 skos:exactMatch ncbigene:29781 semapv:UnspecifiedMatching -OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:2050 semapv:UnspecifiedMatching -OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:CLDN8 semapv:UnspecifiedMatching -OMIM:611231 CLDN8 skos:exactMatch ncbigene:9073 semapv:UnspecifiedMatching -OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:2034 semapv:UnspecifiedMatching -OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:CLDN12 semapv:UnspecifiedMatching -OMIM:611232 CLDN12 skos:exactMatch ncbigene:9069 semapv:UnspecifiedMatching -OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:24913 semapv:UnspecifiedMatching -OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:CDNF semapv:UnspecifiedMatching -OMIM:611233 ARMETL1 skos:exactMatch ncbigene:441549 semapv:UnspecifiedMatching -OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:20743 semapv:UnspecifiedMatching -OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:LRATD1 semapv:UnspecifiedMatching -OMIM:611234 FAM84A skos:exactMatch ncbigene:151354 semapv:UnspecifiedMatching -OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:28462 semapv:UnspecifiedMatching -OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:TMEM38A semapv:UnspecifiedMatching -OMIM:611235 TMEM38A skos:exactMatch ncbigene:79041 semapv:UnspecifiedMatching -OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:25535 semapv:UnspecifiedMatching -OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:TMEM38B semapv:UnspecifiedMatching -OMIM:611236 TMEM38B skos:exactMatch ncbigene:55151 semapv:UnspecifiedMatching -OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:21228 semapv:UnspecifiedMatching -OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:BTBD9 semapv:UnspecifiedMatching -OMIM:611237 BTBD9 skos:exactMatch ncbigene:114781 semapv:UnspecifiedMatching -OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:28314 semapv:UnspecifiedMatching -OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:CHCHD7 semapv:UnspecifiedMatching -OMIM:611238 CHCHD7 skos:exactMatch ncbigene:79145 semapv:UnspecifiedMatching -OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:24835 semapv:UnspecifiedMatching -OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:GPRIN1 semapv:UnspecifiedMatching -OMIM:611239 GPRIN1 skos:exactMatch ncbigene:114787 semapv:UnspecifiedMatching -OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:23730 semapv:UnspecifiedMatching -OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:GPRIN2 semapv:UnspecifiedMatching -OMIM:611240 GPRIN2 skos:exactMatch ncbigene:9721 semapv:UnspecifiedMatching -OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:27733 semapv:UnspecifiedMatching -OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:GPRIN3 semapv:UnspecifiedMatching -OMIM:611241 GPRIN3 skos:exactMatch ncbigene:285513 semapv:UnspecifiedMatching -OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:25598 semapv:UnspecifiedMatching -OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:TYW1 semapv:UnspecifiedMatching -OMIM:611243 TYW1 skos:exactMatch ncbigene:55253 semapv:UnspecifiedMatching -OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:26091 semapv:UnspecifiedMatching -OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:TRMT12 semapv:UnspecifiedMatching -OMIM:611244 TRMT12 skos:exactMatch ncbigene:55039 semapv:UnspecifiedMatching -OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:24757 semapv:UnspecifiedMatching -OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:TYW3 semapv:UnspecifiedMatching -OMIM:611245 TYW3 skos:exactMatch ncbigene:127253 semapv:UnspecifiedMatching -OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:17558 semapv:UnspecifiedMatching -OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:LCMT2 semapv:UnspecifiedMatching -OMIM:611246 LCMT2 skos:exactMatch ncbigene:9836 semapv:UnspecifiedMatching -OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:20704 semapv:UnspecifiedMatching -OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:KLHDC3 semapv:UnspecifiedMatching -OMIM:611248 KLHDC3 skos:exactMatch ncbigene:116138 semapv:UnspecifiedMatching -OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:31479 semapv:UnspecifiedMatching -OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:MIRLET7B semapv:UnspecifiedMatching -OMIM:611249 MIRLET7B skos:exactMatch ncbigene:406884 semapv:UnspecifiedMatching -OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:31482 semapv:UnspecifiedMatching -OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:MIRLET7E semapv:UnspecifiedMatching -OMIM:611250 MIRLET7E skos:exactMatch ncbigene:406887 semapv:UnspecifiedMatching -OMIM:611251 DISP3 skos:exactMatch UMLS:C1826733 semapv:UnspecifiedMatching -OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:29251 semapv:UnspecifiedMatching -OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:DISP3 semapv:UnspecifiedMatching -OMIM:611251 DISP3 skos:exactMatch ncbigene:57540 semapv:UnspecifiedMatching -OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:18632 semapv:UnspecifiedMatching -OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:KIF27 semapv:UnspecifiedMatching -OMIM:611253 KIF27 skos:exactMatch ncbigene:55582 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C1537482 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C3277723 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C3279899 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch UMLS:C3280899 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:30497 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:KIF7 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch ncbigene:374654 semapv:UnspecifiedMatching -OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:10668 semapv:UnspecifiedMatching -OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:NOXA1 semapv:UnspecifiedMatching -OMIM:611255 NOXA1 skos:exactMatch ncbigene:10811 semapv:UnspecifiedMatching -OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:19404 semapv:UnspecifiedMatching -OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:NOXO1 semapv:UnspecifiedMatching -OMIM:611256 NOXO1 skos:exactMatch ncbigene:124056 semapv:UnspecifiedMatching -OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:29411 semapv:UnspecifiedMatching -OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:TMEM132D semapv:UnspecifiedMatching -OMIM:611257 TMEM132D skos:exactMatch ncbigene:121256 semapv:UnspecifiedMatching -OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:30831 semapv:UnspecifiedMatching -OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:TDRD7 semapv:UnspecifiedMatching -OMIM:611258 TDRD7 skos:exactMatch ncbigene:23424 semapv:UnspecifiedMatching -OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:21050 semapv:UnspecifiedMatching -OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:CDKAL1 semapv:UnspecifiedMatching -OMIM:611259 CDKAL1 skos:exactMatch ncbigene:54901 semapv:UnspecifiedMatching -OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:26160 semapv:UnspecifiedMatching -OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:THNSL1 semapv:UnspecifiedMatching -OMIM:611260 THNSL1 skos:exactMatch ncbigene:79896 semapv:UnspecifiedMatching -OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:25602 semapv:UnspecifiedMatching -OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:THNSL2 semapv:UnspecifiedMatching -OMIM:611261 THNSL2 skos:exactMatch ncbigene:55258 semapv:UnspecifiedMatching -OMIM:611262 DOHH skos:exactMatch hgnc.symbol:28662 semapv:UnspecifiedMatching -OMIM:611262 DOHH skos:exactMatch hgnc.symbol:DOHH semapv:UnspecifiedMatching -OMIM:611262 DOHH skos:exactMatch ncbigene:83475 semapv:UnspecifiedMatching -OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch Orphanet:474 semapv:UnspecifiedMatching -OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch UMLS:C1970005 semapv:UnspecifiedMatching -OMIM:611264 CENPW skos:exactMatch hgnc.symbol:21488 semapv:UnspecifiedMatching -OMIM:611264 CENPW skos:exactMatch hgnc.symbol:CENPW semapv:UnspecifiedMatching -OMIM:611264 CENPW skos:exactMatch ncbigene:387103 semapv:UnspecifiedMatching -OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:30021 semapv:UnspecifiedMatching -OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:HELZ2 semapv:UnspecifiedMatching -OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch ncbigene:85441 semapv:UnspecifiedMatching -OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:30182 semapv:UnspecifiedMatching -OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:POTEKP semapv:UnspecifiedMatching -OMIM:611266 POTEKP skos:exactMatch ncbigene:440915 semapv:UnspecifiedMatching -OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:15194 semapv:UnspecifiedMatching -OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:OR51E1 semapv:UnspecifiedMatching -OMIM:611267 OR51E1 skos:exactMatch ncbigene:143503 semapv:UnspecifiedMatching -OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:15195 semapv:UnspecifiedMatching -OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:OR51E2 semapv:UnspecifiedMatching -OMIM:611268 OR51E2 skos:exactMatch ncbigene:81285 semapv:UnspecifiedMatching -OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:13244 semapv:UnspecifiedMatching -OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:NOM1 semapv:UnspecifiedMatching -OMIM:611269 NOM1 skos:exactMatch ncbigene:64434 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch UMLS:C1423703 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch hgnc.symbol:15751 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch hgnc.symbol:NAPB semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch ncbigene:63908 semapv:UnspecifiedMatching -OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:29441 semapv:UnspecifiedMatching -OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:KIF18A semapv:UnspecifiedMatching -OMIM:611271 KIF18A skos:exactMatch ncbigene:81930 semapv:UnspecifiedMatching -OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:12867 semapv:UnspecifiedMatching -OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:ZKSCAN5 semapv:UnspecifiedMatching -OMIM:611272 ZKSCAN5 skos:exactMatch ncbigene:23660 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch UMLS:C1825797 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:21326 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:SKOR1 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch ncbigene:390598 semapv:UnspecifiedMatching -OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:16976 semapv:UnspecifiedMatching -OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:BNIPL semapv:UnspecifiedMatching -OMIM:611275 BNIPL skos:exactMatch ncbigene:149428 semapv:UnspecifiedMatching -OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:21495 semapv:UnspecifiedMatching -OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:KIF12 semapv:UnspecifiedMatching -OMIM:611278 KIF12 skos:exactMatch ncbigene:113220 semapv:UnspecifiedMatching -OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:19181 semapv:UnspecifiedMatching -OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:KIF14 semapv:UnspecifiedMatching -OMIM:611279 KIF14 skos:exactMatch ncbigene:9928 semapv:UnspecifiedMatching -OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:20231 semapv:UnspecifiedMatching -OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:KLHDC2 semapv:UnspecifiedMatching -OMIM:611280 KLHDC2 skos:exactMatch ncbigene:23588 semapv:UnspecifiedMatching -OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:19836 semapv:UnspecifiedMatching -OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:KLHDC1 semapv:UnspecifiedMatching -OMIM:611281 KLHDC1 skos:exactMatch ncbigene:122773 semapv:UnspecifiedMatching -OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:30373 semapv:UnspecifiedMatching -OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:DNMBP semapv:UnspecifiedMatching -OMIM:611282 DNMBP skos:exactMatch ncbigene:23268 semapv:UnspecifiedMatching -OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:21423 semapv:UnspecifiedMatching -OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:KCTD5 semapv:UnspecifiedMatching -OMIM:611285 KCTD5 skos:exactMatch ncbigene:54442 semapv:UnspecifiedMatching -OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:17981 semapv:UnspecifiedMatching -OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:RTCA semapv:UnspecifiedMatching -OMIM:611286 RTCD1 skos:exactMatch ncbigene:8634 semapv:UnspecifiedMatching -OMIM:611287 CNIH1 skos:exactMatch UMLS:C1426240 semapv:UnspecifiedMatching -OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:19431 semapv:UnspecifiedMatching -OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:CNIH1 semapv:UnspecifiedMatching -OMIM:611287 CNIH1 skos:exactMatch ncbigene:10175 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch UMLS:C1539112 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:28744 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:CNIH2 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch ncbigene:254263 semapv:UnspecifiedMatching -OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:29480 semapv:UnspecifiedMatching -OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:LRG1 semapv:UnspecifiedMatching -OMIM:611289 LRG1 skos:exactMatch ncbigene:116844 semapv:UnspecifiedMatching -OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:25737 semapv:UnspecifiedMatching -OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:NHEJ1 semapv:UnspecifiedMatching -OMIM:611290 NHEJ1 skos:exactMatch ncbigene:79840 semapv:UnspecifiedMatching -OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:23139 semapv:UnspecifiedMatching -OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:CLVS1 semapv:UnspecifiedMatching -OMIM:611292 CLVS1 skos:exactMatch ncbigene:157807 semapv:UnspecifiedMatching -OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:28359 semapv:UnspecifiedMatching -OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:CCDC86 semapv:UnspecifiedMatching -OMIM:611293 CCDC86 skos:exactMatch ncbigene:79080 semapv:UnspecifiedMatching -OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:13399 semapv:UnspecifiedMatching -OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:ONECUT3 semapv:UnspecifiedMatching -OMIM:611294 ONECUT3 skos:exactMatch ncbigene:390874 semapv:UnspecifiedMatching -OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:25947 semapv:UnspecifiedMatching -OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:KLHL24 semapv:UnspecifiedMatching -OMIM:611295 KLHL24 skos:exactMatch ncbigene:54800 semapv:UnspecifiedMatching -OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:33463 semapv:UnspecifiedMatching -OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:ANXA2R semapv:UnspecifiedMatching -OMIM:611296 ANXA2R skos:exactMatch ncbigene:389289 semapv:UnspecifiedMatching -OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:15830 semapv:UnspecifiedMatching -OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:OSR2 semapv:UnspecifiedMatching -OMIM:611297 OSR2 skos:exactMatch ncbigene:116039 semapv:UnspecifiedMatching -OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:29618 semapv:UnspecifiedMatching -OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:ELAPOR1 semapv:UnspecifiedMatching -OMIM:611298 ELAPOR1 skos:exactMatch ncbigene:57535 semapv:UnspecifiedMatching -OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:20338 semapv:UnspecifiedMatching -OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:G2E3 semapv:UnspecifiedMatching -OMIM:611299 G2E3 skos:exactMatch ncbigene:55632 semapv:UnspecifiedMatching -OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:24012 semapv:UnspecifiedMatching -OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:LARP6 semapv:UnspecifiedMatching -OMIM:611300 LARP6 skos:exactMatch ncbigene:55323 semapv:UnspecifiedMatching -OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:26171 semapv:UnspecifiedMatching -OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:FAAP100 semapv:UnspecifiedMatching -OMIM:611301 FAAP100 skos:exactMatch ncbigene:80233 semapv:UnspecifiedMatching -OMIM:611303 CLEC16A skos:exactMatch UMLS:C1825657 semapv:UnspecifiedMatching -OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:29013 semapv:UnspecifiedMatching -OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:CLEC16A semapv:UnspecifiedMatching -OMIM:611303 CLEC16A skos:exactMatch ncbigene:23274 semapv:UnspecifiedMatching -OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:30136 semapv:UnspecifiedMatching -OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:LDAF1 semapv:UnspecifiedMatching -OMIM:611304 TMEM159 skos:exactMatch ncbigene:57146 semapv:UnspecifiedMatching -OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:29132 semapv:UnspecifiedMatching -OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:ABLIM3 semapv:UnspecifiedMatching -OMIM:611305 ABLIM3 skos:exactMatch ncbigene:22885 semapv:UnspecifiedMatching -OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:28701 semapv:UnspecifiedMatching -OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:SCARA5 semapv:UnspecifiedMatching -OMIM:611306 SCARA5 skos:exactMatch ncbigene:286133 semapv:UnspecifiedMatching -OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch Orphanet:206549 semapv:UnspecifiedMatching -OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch UMLS:C1969785 semapv:UnspecifiedMatching -OMIM:611309 DEPP1 skos:exactMatch UMLS:C1428046 semapv:UnspecifiedMatching -OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:23355 semapv:UnspecifiedMatching -OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:DEPP1 semapv:UnspecifiedMatching -OMIM:611309 DEPP1 skos:exactMatch ncbigene:11067 semapv:UnspecifiedMatching -OMIM:611310 PSTK skos:exactMatch hgnc.symbol:28578 semapv:UnspecifiedMatching -OMIM:611310 PSTK skos:exactMatch hgnc.symbol:PSTK semapv:UnspecifiedMatching -OMIM:611310 PSTK skos:exactMatch ncbigene:118672 semapv:UnspecifiedMatching -OMIM:611312 CRNN skos:exactMatch hgnc.symbol:1230 semapv:UnspecifiedMatching -OMIM:611312 CRNN skos:exactMatch hgnc.symbol:CRNN semapv:UnspecifiedMatching -OMIM:611312 CRNN skos:exactMatch ncbigene:49860 semapv:UnspecifiedMatching -OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:32685 semapv:UnspecifiedMatching -OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:ARMS2 semapv:UnspecifiedMatching -OMIM:611313 ARMS2 skos:exactMatch ncbigene:387715 semapv:UnspecifiedMatching -OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:26817 semapv:UnspecifiedMatching -OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:HMGN2P46 semapv:UnspecifiedMatching -OMIM:611314 HMGN2P46 skos:exactMatch ncbigene:283651 semapv:UnspecifiedMatching -OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:13093 semapv:UnspecifiedMatching -OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:ZSCAN20 semapv:UnspecifiedMatching -OMIM:611315 ZSCAN20 skos:exactMatch ncbigene:7579 semapv:UnspecifiedMatching -OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:15595 semapv:UnspecifiedMatching -OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:SLC12A8 semapv:UnspecifiedMatching -OMIM:611316 SLC12A8 skos:exactMatch ncbigene:84561 semapv:UnspecifiedMatching -OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:30035 semapv:UnspecifiedMatching -OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:PIK3R5 semapv:UnspecifiedMatching -OMIM:611317 PIK3R5 skos:exactMatch ncbigene:23533 semapv:UnspecifiedMatching -OMIM:611318 MED12L skos:exactMatch UMLS:C1537678 semapv:UnspecifiedMatching -OMIM:611318 MED12L skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching -OMIM:611318 MED12L skos:exactMatch hgnc.symbol:16050 semapv:UnspecifiedMatching -OMIM:611318 MED12L skos:exactMatch hgnc.symbol:MED12L semapv:UnspecifiedMatching -OMIM:611318 MED12L skos:exactMatch ncbigene:116931 semapv:UnspecifiedMatching -OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:19753 semapv:UnspecifiedMatching -OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:IFI27L2 semapv:UnspecifiedMatching -OMIM:611319 IFI27L2 skos:exactMatch ncbigene:83982 semapv:UnspecifiedMatching -OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:19754 semapv:UnspecifiedMatching -OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:IFI27L1 semapv:UnspecifiedMatching -OMIM:611320 IFI27L1 skos:exactMatch ncbigene:122509 semapv:UnspecifiedMatching -OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:17447 semapv:UnspecifiedMatching -OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:CLSTN1 semapv:UnspecifiedMatching -OMIM:611321 CLSTN1 skos:exactMatch ncbigene:22883 semapv:UnspecifiedMatching -OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:14884 semapv:UnspecifiedMatching -OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:DNAJA2 semapv:UnspecifiedMatching -OMIM:611322 DNAJA2 skos:exactMatch ncbigene:10294 semapv:UnspecifiedMatching -OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:17448 semapv:UnspecifiedMatching -OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:CLSTN2 semapv:UnspecifiedMatching -OMIM:611323 CLSTN2 skos:exactMatch ncbigene:64084 semapv:UnspecifiedMatching -OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:18371 semapv:UnspecifiedMatching -OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:CLSTN3 semapv:UnspecifiedMatching -OMIM:611324 CLSTN3 skos:exactMatch ncbigene:9746 semapv:UnspecifiedMatching -OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:17443 semapv:UnspecifiedMatching -OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:TBRG4 semapv:UnspecifiedMatching -OMIM:611325 TBRG4 skos:exactMatch ncbigene:9238 semapv:UnspecifiedMatching -OMIM:611326 CCPG1 skos:exactMatch UMLS:C1539078 semapv:UnspecifiedMatching -OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:24227 semapv:UnspecifiedMatching -OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:CCPG1 semapv:UnspecifiedMatching -OMIM:611326 CCPG1 skos:exactMatch ncbigene:9236 semapv:UnspecifiedMatching -OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:14886 semapv:UnspecifiedMatching -OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:DNAJB4 semapv:UnspecifiedMatching -OMIM:611327 DNAJB4 skos:exactMatch ncbigene:11080 semapv:UnspecifiedMatching -OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:14887 semapv:UnspecifiedMatching -OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:DNAJB5 semapv:UnspecifiedMatching -OMIM:611328 DNAJB5 skos:exactMatch ncbigene:25822 semapv:UnspecifiedMatching -OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:32559 semapv:UnspecifiedMatching -OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:SCARNA18 semapv:UnspecifiedMatching -OMIM:611329 SCARNA18 skos:exactMatch ncbigene:677765 semapv:UnspecifiedMatching -OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:32600 semapv:UnspecifiedMatching -OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:SNORA12 semapv:UnspecifiedMatching -OMIM:611330 SNORA12 skos:exactMatch ncbigene:677800 semapv:UnspecifiedMatching -OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:32660 semapv:UnspecifiedMatching -OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:SNORA74B semapv:UnspecifiedMatching -OMIM:611331 SNORA74B skos:exactMatch ncbigene:677841 semapv:UnspecifiedMatching -OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:14888 semapv:UnspecifiedMatching -OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:DNAJB6 semapv:UnspecifiedMatching -OMIM:611332 DNAJB6 skos:exactMatch ncbigene:10049 semapv:UnspecifiedMatching -OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:32638 semapv:UnspecifiedMatching -OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:SNORA3B semapv:UnspecifiedMatching -OMIM:611333 SNORA3B skos:exactMatch ncbigene:677826 semapv:UnspecifiedMatching -OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:32667 semapv:UnspecifiedMatching -OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:SNORA81 semapv:UnspecifiedMatching -OMIM:611334 SNORA81 skos:exactMatch ncbigene:677847 semapv:UnspecifiedMatching -OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:32590 semapv:UnspecifiedMatching -OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:SNORA5C semapv:UnspecifiedMatching -OMIM:611335 SNORA5C skos:exactMatch ncbigene:677796 semapv:UnspecifiedMatching -OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:24986 semapv:UnspecifiedMatching -OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:DNAJB7 semapv:UnspecifiedMatching -OMIM:611336 DNAJB7 skos:exactMatch ncbigene:150353 semapv:UnspecifiedMatching -OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:23699 semapv:UnspecifiedMatching -OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:DNAJB8 semapv:UnspecifiedMatching -OMIM:611337 DNAJB8 skos:exactMatch ncbigene:165721 semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch UMLS:C1427125 semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:20790 semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:ATG4B semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch ncbigene:23192 semapv:UnspecifiedMatching -OMIM:611339 ATG4C skos:exactMatch UMLS:C1825495 semapv:UnspecifiedMatching -OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:16040 semapv:UnspecifiedMatching -OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:ATG4C semapv:UnspecifiedMatching -OMIM:611339 ATG4C skos:exactMatch ncbigene:84938 semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch UMLS:C1825496 semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:20789 semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:ATG4D semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch ncbigene:84971 semapv:UnspecifiedMatching -OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:14889 semapv:UnspecifiedMatching -OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:DNAJB11 semapv:UnspecifiedMatching -OMIM:611341 DNAJB11 skos:exactMatch ncbigene:51726 semapv:UnspecifiedMatching -OMIM:611342 C9ORF64 skos:exactMatch hgnc.symbol:QNG1 semapv:UnspecifiedMatching -OMIM:611342 C9ORF64 skos:exactMatch ncbigene:84267 semapv:UnspecifiedMatching -OMIM:611343 IDNK skos:exactMatch hgnc.symbol:31367 semapv:UnspecifiedMatching -OMIM:611343 IDNK skos:exactMatch hgnc.symbol:IDNK semapv:UnspecifiedMatching -OMIM:611343 IDNK skos:exactMatch ncbigene:414328 semapv:UnspecifiedMatching -OMIM:611344 RASEF skos:exactMatch hgnc.symbol:26464 semapv:UnspecifiedMatching -OMIM:611344 RASEF skos:exactMatch hgnc.symbol:RASEF semapv:UnspecifiedMatching -OMIM:611344 RASEF skos:exactMatch ncbigene:158158 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch UMLS:C1825603 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:24555 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:INTS1 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch ncbigene:26173 semapv:UnspecifiedMatching -OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:29241 semapv:UnspecifiedMatching -OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:INTS2 semapv:UnspecifiedMatching -OMIM:611346 INTS2 skos:exactMatch ncbigene:57508 semapv:UnspecifiedMatching -OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:26153 semapv:UnspecifiedMatching -OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:INTS3 semapv:UnspecifiedMatching -OMIM:611347 INTS3 skos:exactMatch ncbigene:65123 semapv:UnspecifiedMatching -OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:25048 semapv:UnspecifiedMatching -OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:INTS4 semapv:UnspecifiedMatching -OMIM:611348 INTS4 skos:exactMatch ncbigene:92105 semapv:UnspecifiedMatching -OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:29352 semapv:UnspecifiedMatching -OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:INTS5 semapv:UnspecifiedMatching -OMIM:611349 INTS5 skos:exactMatch ncbigene:80789 semapv:UnspecifiedMatching -OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:24484 semapv:UnspecifiedMatching -OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:INTS7 semapv:UnspecifiedMatching -OMIM:611350 INTS7 skos:exactMatch ncbigene:25896 semapv:UnspecifiedMatching -OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:26048 semapv:UnspecifiedMatching -OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:INTS8 semapv:UnspecifiedMatching -OMIM:611351 INTS8 skos:exactMatch ncbigene:55656 semapv:UnspecifiedMatching -OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:25592 semapv:UnspecifiedMatching -OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:INTS9 semapv:UnspecifiedMatching -OMIM:611352 INTS9 skos:exactMatch ncbigene:55756 semapv:UnspecifiedMatching -OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:25548 semapv:UnspecifiedMatching -OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:INTS10 semapv:UnspecifiedMatching -OMIM:611353 INTS10 skos:exactMatch ncbigene:55174 semapv:UnspecifiedMatching -OMIM:611354 INTS11 skos:exactMatch hgnc.symbol:26052 semapv:UnspecifiedMatching -OMIM:611354 INTS11 skos:exactMatch hgnc.symbol:INTS11 semapv:UnspecifiedMatching -OMIM:611354 INTS11 skos:exactMatch ncbigene:54973 semapv:UnspecifiedMatching -OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:25067 semapv:UnspecifiedMatching -OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:INTS12 semapv:UnspecifiedMatching -OMIM:611355 INTS12 skos:exactMatch ncbigene:57117 semapv:UnspecifiedMatching -OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:17496 semapv:UnspecifiedMatching -OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:GKAP1 semapv:UnspecifiedMatching -OMIM:611356 GKAP1 skos:exactMatch ncbigene:80318 semapv:UnspecifiedMatching -OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:18345 semapv:UnspecifiedMatching -OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:TENT5A semapv:UnspecifiedMatching -OMIM:611357 TENT5A skos:exactMatch ncbigene:55603 semapv:UnspecifiedMatching -OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:21158 semapv:UnspecifiedMatching -OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:RNF135 semapv:UnspecifiedMatching -OMIM:611358 RNF135 skos:exactMatch ncbigene:84282 semapv:UnspecifiedMatching -OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:25990 semapv:UnspecifiedMatching -OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:AMBRA1 semapv:UnspecifiedMatching -OMIM:611359 AMBRA1 skos:exactMatch ncbigene:55626 semapv:UnspecifiedMatching -OMIM:611360 FANCI skos:exactMatch UMLS:C1825278 semapv:UnspecifiedMatching -OMIM:611360 FANCI skos:exactMatch UMLS:C1836861 semapv:UnspecifiedMatching -OMIM:611360 FANCI skos:exactMatch hgnc.symbol:25568 semapv:UnspecifiedMatching -OMIM:611360 FANCI skos:exactMatch hgnc.symbol:FANCI semapv:UnspecifiedMatching -OMIM:611360 FANCI skos:exactMatch ncbigene:55215 semapv:UnspecifiedMatching -OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:25581 semapv:UnspecifiedMatching -OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:UBA6 semapv:UnspecifiedMatching -OMIM:611361 UBA6 skos:exactMatch ncbigene:55236 semapv:UnspecifiedMatching -OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:25847 semapv:UnspecifiedMatching -OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:UBE2Z semapv:UnspecifiedMatching -OMIM:611362 UBE2Z skos:exactMatch ncbigene:65264 semapv:UnspecifiedMatching -OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:33205 semapv:UnspecifiedMatching -OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:TMEM183BP semapv:UnspecifiedMatching -OMIM:611365 TMEM183B skos:exactMatch ncbigene:653659 semapv:UnspecifiedMatching -OMIM:611366 MYG1 skos:exactMatch UMLS:C1425007 semapv:UnspecifiedMatching -OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:17590 semapv:UnspecifiedMatching -OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:MYG1 semapv:UnspecifiedMatching -OMIM:611366 MYG1 skos:exactMatch ncbigene:60314 semapv:UnspecifiedMatching -OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:2981 semapv:UnspecifiedMatching -OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:DNPEP semapv:UnspecifiedMatching -OMIM:611367 DNPEP skos:exactMatch ncbigene:23549 semapv:UnspecifiedMatching -OMIM:611368 MAEL skos:exactMatch UMLS:C1825933 semapv:UnspecifiedMatching -OMIM:611368 MAEL skos:exactMatch hgnc.symbol:25929 semapv:UnspecifiedMatching -OMIM:611368 MAEL skos:exactMatch hgnc.symbol:MAEL semapv:UnspecifiedMatching -OMIM:611368 MAEL skos:exactMatch ncbigene:84944 semapv:UnspecifiedMatching -OMIM:611370 FGGY skos:exactMatch hgnc.symbol:25610 semapv:UnspecifiedMatching -OMIM:611370 FGGY skos:exactMatch hgnc.symbol:FGGY semapv:UnspecifiedMatching -OMIM:611370 FGGY skos:exactMatch ncbigene:55277 semapv:UnspecifiedMatching -OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:25196 semapv:UnspecifiedMatching -OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:ZNF653 semapv:UnspecifiedMatching -OMIM:611371 ZNF653 skos:exactMatch ncbigene:115950 semapv:UnspecifiedMatching -OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:19651 semapv:UnspecifiedMatching -OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:SMAP1 semapv:UnspecifiedMatching -OMIM:611372 SMAP1 skos:exactMatch ncbigene:60682 semapv:UnspecifiedMatching -OMIM:611373 LEAP2 skos:exactMatch UMLS:C1825807 semapv:UnspecifiedMatching -OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:29571 semapv:UnspecifiedMatching -OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:LEAP2 semapv:UnspecifiedMatching -OMIM:611373 LEAP2 skos:exactMatch ncbigene:116842 semapv:UnspecifiedMatching -OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:31636 semapv:UnspecifiedMatching -OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:MIR34B semapv:UnspecifiedMatching -OMIM:611374 MIR34B skos:exactMatch ncbigene:407041 semapv:UnspecifiedMatching -OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:31637 semapv:UnspecifiedMatching -OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:MIR34C semapv:UnspecifiedMatching -OMIM:611375 MIR34C skos:exactMatch ncbigene:407042 semapv:UnspecifiedMatching -OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:140908 semapv:UnspecifiedMatching -OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching -OMIM:611377 brachydactyly, iia b2 skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching -OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:29284 semapv:UnspecifiedMatching -OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:DIP2B semapv:UnspecifiedMatching -OMIM:611379 DIP2B skos:exactMatch ncbigene:57609 semapv:UnspecifiedMatching -OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:29150 semapv:UnspecifiedMatching -OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:DIP2C semapv:UnspecifiedMatching -OMIM:611380 DIP2C skos:exactMatch ncbigene:22982 semapv:UnspecifiedMatching -OMIM:611386 ADNP skos:exactMatch hgnc.symbol:15766 semapv:UnspecifiedMatching -OMIM:611386 ADNP skos:exactMatch hgnc.symbol:ADNP semapv:UnspecifiedMatching -OMIM:611386 ADNP skos:exactMatch ncbigene:23394 semapv:UnspecifiedMatching -OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:19232 semapv:UnspecifiedMatching -OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:CXCL17 semapv:UnspecifiedMatching -OMIM:611387 CXCL17 skos:exactMatch ncbigene:284340 semapv:UnspecifiedMatching -OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:16160 semapv:UnspecifiedMatching -OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:DNTTIP1 semapv:UnspecifiedMatching -OMIM:611388 DNTTIP1 skos:exactMatch ncbigene:116092 semapv:UnspecifiedMatching -OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:16805 semapv:UnspecifiedMatching -OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:PRICKLE4 semapv:UnspecifiedMatching -OMIM:611389 PRICKLE4 skos:exactMatch ncbigene:29964 semapv:UnspecifiedMatching -OMIM:611392 ADO skos:exactMatch UMLS:C1428110 semapv:UnspecifiedMatching -OMIM:611392 ADO skos:exactMatch hgnc.symbol:23506 semapv:UnspecifiedMatching -OMIM:611392 ADO skos:exactMatch hgnc.symbol:ADO semapv:UnspecifiedMatching -OMIM:611392 ADO skos:exactMatch ncbigene:84890 semapv:UnspecifiedMatching -OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:16188 semapv:UnspecifiedMatching -OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:FAM110A semapv:UnspecifiedMatching -OMIM:611393 FAM110A skos:exactMatch ncbigene:83541 semapv:UnspecifiedMatching -OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:28587 semapv:UnspecifiedMatching -OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:FAM110B semapv:UnspecifiedMatching -OMIM:611394 FAM110B skos:exactMatch ncbigene:90362 semapv:UnspecifiedMatching -OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:33340 semapv:UnspecifiedMatching -OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:FAM110C semapv:UnspecifiedMatching -OMIM:611395 FAM110C skos:exactMatch ncbigene:642273 semapv:UnspecifiedMatching -OMIM:611396 ADIG skos:exactMatch hgnc.symbol:28606 semapv:UnspecifiedMatching -OMIM:611396 ADIG skos:exactMatch hgnc.symbol:ADIG semapv:UnspecifiedMatching -OMIM:611396 ADIG skos:exactMatch ncbigene:149685 semapv:UnspecifiedMatching -OMIM:611397 TANC1 skos:exactMatch UMLS:C1823226 semapv:UnspecifiedMatching -OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:29364 semapv:UnspecifiedMatching -OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:TANC1 semapv:UnspecifiedMatching -OMIM:611397 TANC1 skos:exactMatch ncbigene:85461 semapv:UnspecifiedMatching -OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:24846 semapv:UnspecifiedMatching -OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:GAS2L2 semapv:UnspecifiedMatching -OMIM:611398 GAS2L2 skos:exactMatch ncbigene:246176 semapv:UnspecifiedMatching -OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:26406 semapv:UnspecifiedMatching -OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:SCLT1 semapv:UnspecifiedMatching -OMIM:611399 SCLT1 skos:exactMatch ncbigene:132320 semapv:UnspecifiedMatching -OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:33510 semapv:UnspecifiedMatching -OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:HOTAIR semapv:UnspecifiedMatching -OMIM:611400 HOTAIR skos:exactMatch ncbigene:100124700 semapv:UnspecifiedMatching -OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:13927 semapv:UnspecifiedMatching -OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:C6orf15 semapv:UnspecifiedMatching -OMIM:611401 C6ORF15 skos:exactMatch ncbigene:29113 semapv:UnspecifiedMatching -OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:28301 semapv:UnspecifiedMatching -OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:DOK6 semapv:UnspecifiedMatching -OMIM:611402 DOK6 skos:exactMatch ncbigene:220164 semapv:UnspecifiedMatching -OMIM:611404 LY6G6F skos:exactMatch UMLS:C1422281 semapv:UnspecifiedMatching -OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:13933 semapv:UnspecifiedMatching -OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:LY6G6F semapv:UnspecifiedMatching -OMIM:611404 LY6G6F skos:exactMatch ncbigene:259215 semapv:UnspecifiedMatching -OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:17687 semapv:UnspecifiedMatching -OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:RCL1 semapv:UnspecifiedMatching -OMIM:611405 RCL1 skos:exactMatch ncbigene:10171 semapv:UnspecifiedMatching -OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:2966 semapv:UnspecifiedMatching -OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:DYNC1LI2 semapv:UnspecifiedMatching -OMIM:611406 DYNC1LI2 skos:exactMatch ncbigene:1783 semapv:UnspecifiedMatching -OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:31923 semapv:UnspecifiedMatching -OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:LCA5 semapv:UnspecifiedMatching -OMIM:611408 LCA5 skos:exactMatch ncbigene:167691 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch UMLS:C0268495 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch UMLS:C0268497 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch UMLS:C1417925 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch UMLS:C1856895 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:8101 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:OCA2 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch ncbigene:4948 semapv:UnspecifiedMatching -OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:13872 semapv:UnspecifiedMatching -OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:RIPOR2 semapv:UnspecifiedMatching -OMIM:611410 RIPOR2 skos:exactMatch ncbigene:9750 semapv:UnspecifiedMatching -OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:1469 semapv:UnspecifiedMatching -OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:CAMKK1 semapv:UnspecifiedMatching -OMIM:611411 CAMKK1 skos:exactMatch ncbigene:84254 semapv:UnspecifiedMatching -OMIM:611412 NPL skos:exactMatch hgnc.symbol:16781 semapv:UnspecifiedMatching -OMIM:611412 NPL skos:exactMatch hgnc.symbol:NPL semapv:UnspecifiedMatching -OMIM:611412 NPL skos:exactMatch ncbigene:80896 semapv:UnspecifiedMatching -OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:30368 semapv:UnspecifiedMatching -OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:DLGAP3 semapv:UnspecifiedMatching -OMIM:611413 DLGAP3 skos:exactMatch ncbigene:58512 semapv:UnspecifiedMatching -OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:20407 semapv:UnspecifiedMatching -OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:CALR3 semapv:UnspecifiedMatching -OMIM:611414 CALR3 skos:exactMatch ncbigene:125972 semapv:UnspecifiedMatching -OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:20932 semapv:UnspecifiedMatching -OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:POLD3 semapv:UnspecifiedMatching -OMIM:611415 POLD3 skos:exactMatch ncbigene:10714 semapv:UnspecifiedMatching -OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:11972 semapv:UnspecifiedMatching -OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:TOX3 semapv:UnspecifiedMatching -OMIM:611416 TOX3 skos:exactMatch ncbigene:27324 semapv:UnspecifiedMatching -OMIM:611417 SGSM1 skos:exactMatch hgnc.symbol:29410 semapv:UnspecifiedMatching -OMIM:611417 SGSM1 skos:exactMatch hgnc.symbol:SGSM1 semapv:UnspecifiedMatching -OMIM:611417 SGSM1 skos:exactMatch ncbigene:129049 semapv:UnspecifiedMatching -OMIM:611418 SGSM2 skos:exactMatch hgnc.symbol:29026 semapv:UnspecifiedMatching -OMIM:611418 SGSM2 skos:exactMatch hgnc.symbol:SGSM2 semapv:UnspecifiedMatching -OMIM:611418 SGSM2 skos:exactMatch ncbigene:9905 semapv:UnspecifiedMatching -OMIM:611419 SMIM29 skos:exactMatch hgnc.symbol:1340 semapv:UnspecifiedMatching -OMIM:611419 SMIM29 skos:exactMatch hgnc.symbol:SMIM29 semapv:UnspecifiedMatching -OMIM:611419 SMIM29 skos:exactMatch ncbigene:221491 semapv:UnspecifiedMatching -OMIM:611420 CIZ1 skos:exactMatch hgnc.symbol:16744 semapv:UnspecifiedMatching -OMIM:611420 CIZ1 skos:exactMatch hgnc.symbol:CIZ1 semapv:UnspecifiedMatching -OMIM:611420 CIZ1 skos:exactMatch ncbigene:25792 semapv:UnspecifiedMatching -OMIM:611421 SRCAP skos:exactMatch hgnc.symbol:16974 semapv:UnspecifiedMatching -OMIM:611421 SRCAP skos:exactMatch hgnc.symbol:SRCAP semapv:UnspecifiedMatching -OMIM:611421 SRCAP skos:exactMatch ncbigene:10847 semapv:UnspecifiedMatching -OMIM:611422 MND1 skos:exactMatch hgnc.symbol:24839 semapv:UnspecifiedMatching -OMIM:611422 MND1 skos:exactMatch hgnc.symbol:MND1 semapv:UnspecifiedMatching -OMIM:611422 MND1 skos:exactMatch ncbigene:84057 semapv:UnspecifiedMatching -OMIM:611423 CEP135 skos:exactMatch hgnc.symbol:29086 semapv:UnspecifiedMatching -OMIM:611423 CEP135 skos:exactMatch hgnc.symbol:CEP135 semapv:UnspecifiedMatching -OMIM:611423 CEP135 skos:exactMatch ncbigene:9662 semapv:UnspecifiedMatching -OMIM:611424 ZMYND19 skos:exactMatch hgnc.symbol:21146 semapv:UnspecifiedMatching -OMIM:611424 ZMYND19 skos:exactMatch hgnc.symbol:ZMYND19 semapv:UnspecifiedMatching -OMIM:611424 ZMYND19 skos:exactMatch ncbigene:116225 semapv:UnspecifiedMatching -OMIM:611425 CNTROB skos:exactMatch hgnc.symbol:29616 semapv:UnspecifiedMatching -OMIM:611425 CNTROB skos:exactMatch hgnc.symbol:CNTROB semapv:UnspecifiedMatching -OMIM:611425 CNTROB skos:exactMatch ncbigene:116840 semapv:UnspecifiedMatching -OMIM:611427 MTHFD1L skos:exactMatch hgnc.symbol:21055 semapv:UnspecifiedMatching -OMIM:611427 MTHFD1L skos:exactMatch hgnc.symbol:MTHFD1L semapv:UnspecifiedMatching -OMIM:611427 MTHFD1L skos:exactMatch ncbigene:25902 semapv:UnspecifiedMatching -OMIM:611428 DONSON skos:exactMatch hgnc.symbol:2993 semapv:UnspecifiedMatching -OMIM:611428 DONSON skos:exactMatch hgnc.symbol:DONSON semapv:UnspecifiedMatching -OMIM:611428 DONSON skos:exactMatch ncbigene:29980 semapv:UnspecifiedMatching -OMIM:611429 APRG1 skos:exactMatch hgnc.symbol:24082 semapv:UnspecifiedMatching -OMIM:611429 APRG1 skos:exactMatch hgnc.symbol:APRG1 semapv:UnspecifiedMatching -OMIM:611429 APRG1 skos:exactMatch ncbigene:339883 semapv:UnspecifiedMatching -OMIM:611430 TTC21A skos:exactMatch hgnc.symbol:30761 semapv:UnspecifiedMatching -OMIM:611430 TTC21A skos:exactMatch hgnc.symbol:TTC21A semapv:UnspecifiedMatching -OMIM:611430 TTC21A skos:exactMatch ncbigene:199223 semapv:UnspecifiedMatching -OMIM:611432 DOCK8 skos:exactMatch hgnc.symbol:19191 semapv:UnspecifiedMatching -OMIM:611432 DOCK8 skos:exactMatch hgnc.symbol:DOCK8 semapv:UnspecifiedMatching -OMIM:611432 DOCK8 skos:exactMatch ncbigene:81704 semapv:UnspecifiedMatching -OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:18889 semapv:UnspecifiedMatching -OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:STYK1 semapv:UnspecifiedMatching -OMIM:611433 STYK1 skos:exactMatch ncbigene:55359 semapv:UnspecifiedMatching -OMIM:611434 CLNK skos:exactMatch hgnc.symbol:17438 semapv:UnspecifiedMatching -OMIM:611434 CLNK skos:exactMatch hgnc.symbol:CLNK semapv:UnspecifiedMatching -OMIM:611434 CLNK skos:exactMatch ncbigene:116449 semapv:UnspecifiedMatching -OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:24583 semapv:UnspecifiedMatching -OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:DOK3 semapv:UnspecifiedMatching -OMIM:611435 DOK3 skos:exactMatch ncbigene:79930 semapv:UnspecifiedMatching -OMIM:611436 CA13 skos:exactMatch hgnc.symbol:14914 semapv:UnspecifiedMatching -OMIM:611436 CA13 skos:exactMatch hgnc.symbol:CA13 semapv:UnspecifiedMatching -OMIM:611436 CA13 skos:exactMatch ncbigene:377677 semapv:UnspecifiedMatching -OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:18894 semapv:UnspecifiedMatching -OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:DUSP19 semapv:UnspecifiedMatching -OMIM:611437 DUSP19 skos:exactMatch ncbigene:142679 semapv:UnspecifiedMatching -OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:21617 semapv:UnspecifiedMatching -OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:TXLNB semapv:UnspecifiedMatching -OMIM:611438 TXLNB skos:exactMatch ncbigene:167838 semapv:UnspecifiedMatching -OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:13085 semapv:UnspecifiedMatching -OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:ZBTB22 semapv:UnspecifiedMatching -OMIM:611439 ZBTB22 skos:exactMatch ncbigene:9278 semapv:UnspecifiedMatching -OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:13923 semapv:UnspecifiedMatching -OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:WDR46 semapv:UnspecifiedMatching -OMIM:611440 WDR46 skos:exactMatch ncbigene:9277 semapv:UnspecifiedMatching -OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:3079 semapv:UnspecifiedMatching -OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:DUX1 semapv:UnspecifiedMatching -OMIM:611441 DUX1 skos:exactMatch ncbigene:26584 semapv:UnspecifiedMatching -OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:38670 semapv:UnspecifiedMatching -OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:DUX4L8 semapv:UnspecifiedMatching -OMIM:611442 DUX2 skos:exactMatch ncbigene:26583 semapv:UnspecifiedMatching -OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:3081 semapv:UnspecifiedMatching -OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:DUX3 semapv:UnspecifiedMatching -OMIM:611443 DUX3 skos:exactMatch ncbigene:26582 semapv:UnspecifiedMatching -OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:3083 semapv:UnspecifiedMatching -OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:DUX5 semapv:UnspecifiedMatching -OMIM:611444 DUX5 skos:exactMatch ncbigene:26581 semapv:UnspecifiedMatching -OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:29125 semapv:UnspecifiedMatching -OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:DNM3 semapv:UnspecifiedMatching -OMIM:611445 DNM3 skos:exactMatch ncbigene:26052 semapv:UnspecifiedMatching -OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:18484 semapv:UnspecifiedMatching -OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:DUSP18 semapv:UnspecifiedMatching -OMIM:611446 DUSP18 skos:exactMatch ncbigene:150290 semapv:UnspecifiedMatching -OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:17948 semapv:UnspecifiedMatching -OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:YBX2 semapv:UnspecifiedMatching -OMIM:611447 YBX2 skos:exactMatch ncbigene:51087 semapv:UnspecifiedMatching -OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:23505 semapv:UnspecifiedMatching -OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:BMS1 semapv:UnspecifiedMatching -OMIM:611448 BMS1 skos:exactMatch ncbigene:9790 semapv:UnspecifiedMatching -OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:17796 semapv:UnspecifiedMatching -OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:XPO4 semapv:UnspecifiedMatching -OMIM:611449 XPO4 skos:exactMatch ncbigene:64328 semapv:UnspecifiedMatching -OMIM:611450 PXK skos:exactMatch hgnc.symbol:23326 semapv:UnspecifiedMatching -OMIM:611450 PXK skos:exactMatch hgnc.symbol:PXK semapv:UnspecifiedMatching -OMIM:611450 PXK skos:exactMatch ncbigene:54899 semapv:UnspecifiedMatching -OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:15881 semapv:UnspecifiedMatching -OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:DBNDD2 semapv:UnspecifiedMatching -OMIM:611453 DBNDD2 skos:exactMatch ncbigene:55861 semapv:UnspecifiedMatching -OMIM:611455 KNCN skos:exactMatch hgnc.symbol:26488 semapv:UnspecifiedMatching -OMIM:611455 KNCN skos:exactMatch hgnc.symbol:KNCN semapv:UnspecifiedMatching -OMIM:611455 KNCN skos:exactMatch ncbigene:148930 semapv:UnspecifiedMatching -OMIM:611457 FOXO6 skos:exactMatch UMLS:C1969616 semapv:UnspecifiedMatching -OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:24814 semapv:UnspecifiedMatching -OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:FOXO6 semapv:UnspecifiedMatching -OMIM:611457 FOXO6 skos:exactMatch ncbigene:100132074 semapv:UnspecifiedMatching -OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:4298 semapv:UnspecifiedMatching -OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:GLB1 semapv:UnspecifiedMatching -OMIM:611458 GLB1 skos:exactMatch ncbigene:2720 semapv:UnspecifiedMatching -OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:23088 semapv:UnspecifiedMatching -OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:SLC10A7 semapv:UnspecifiedMatching -OMIM:611459 SLC10A7 skos:exactMatch ncbigene:84068 semapv:UnspecifiedMatching -OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:27007 semapv:UnspecifiedMatching -OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:TPRG1L semapv:UnspecifiedMatching -OMIM:611460 TPRG1L skos:exactMatch ncbigene:127262 semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch UMLS:C1427912 semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:23095 semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:SLC22A17 semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch ncbigene:51310 semapv:UnspecifiedMatching -OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:27101 semapv:UnspecifiedMatching -OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:PIK3R6 semapv:UnspecifiedMatching -OMIM:611462 PIK3R6 skos:exactMatch ncbigene:146850 semapv:UnspecifiedMatching -OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:23160 semapv:UnspecifiedMatching -OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:SAT2 semapv:UnspecifiedMatching -OMIM:611463 SAT2 skos:exactMatch ncbigene:112483 semapv:UnspecifiedMatching -OMIM:611464 MON1A skos:exactMatch UMLS:C1537933 semapv:UnspecifiedMatching -OMIM:611464 MON1A skos:exactMatch hgnc.symbol:28207 semapv:UnspecifiedMatching -OMIM:611464 MON1A skos:exactMatch hgnc.symbol:MON1A semapv:UnspecifiedMatching -OMIM:611464 MON1A skos:exactMatch ncbigene:84315 semapv:UnspecifiedMatching -OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:29017 semapv:UnspecifiedMatching -OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:PLEKHM1 semapv:UnspecifiedMatching -OMIM:611466 PLEKHM1 skos:exactMatch ncbigene:9842 semapv:UnspecifiedMatching -OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:19895 semapv:UnspecifiedMatching -OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:GBP5 semapv:UnspecifiedMatching -OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch ncbigene:115362 semapv:UnspecifiedMatching -OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:20608 semapv:UnspecifiedMatching -OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:BDNF-AS semapv:UnspecifiedMatching -OMIM:611468 BDNFAS skos:exactMatch ncbigene:497258 semapv:UnspecifiedMatching -OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:21016 semapv:UnspecifiedMatching -OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:LGSN semapv:UnspecifiedMatching -OMIM:611470 GLULD1 skos:exactMatch ncbigene:51557 semapv:UnspecifiedMatching -OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:29609 semapv:UnspecifiedMatching -OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:ACP6 semapv:UnspecifiedMatching -OMIM:611471 ACP6 skos:exactMatch ncbigene:51205 semapv:UnspecifiedMatching -OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:20444 semapv:UnspecifiedMatching -OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:MBD5 semapv:UnspecifiedMatching -OMIM:611472 MBD5 skos:exactMatch ncbigene:55777 semapv:UnspecifiedMatching -OMIM:611473 ESRG skos:exactMatch hgnc.symbol:39079 semapv:UnspecifiedMatching -OMIM:611473 ESRG skos:exactMatch hgnc.symbol:ESRG semapv:UnspecifiedMatching -OMIM:611473 ESRG skos:exactMatch ncbigene:790952 semapv:UnspecifiedMatching -OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:24978 semapv:UnspecifiedMatching -OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:PLAAT5 semapv:UnspecifiedMatching -OMIM:611474 PLAAT5 skos:exactMatch ncbigene:117245 semapv:UnspecifiedMatching -OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:24567 semapv:UnspecifiedMatching -OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:RPAP1 semapv:UnspecifiedMatching -OMIM:611475 RPAP1 skos:exactMatch ncbigene:26015 semapv:UnspecifiedMatching -OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:25791 semapv:UnspecifiedMatching -OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:RPAP2 semapv:UnspecifiedMatching -OMIM:611476 RPAP2 skos:exactMatch ncbigene:79871 semapv:UnspecifiedMatching -OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:26151 semapv:UnspecifiedMatching -OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:RPAP3 semapv:UnspecifiedMatching -OMIM:611477 RPAP3 skos:exactMatch ncbigene:79657 semapv:UnspecifiedMatching -OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:20247 semapv:UnspecifiedMatching -OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:MEPCE semapv:UnspecifiedMatching -OMIM:611478 MEPCE skos:exactMatch ncbigene:56257 semapv:UnspecifiedMatching -OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:17030 semapv:UnspecifiedMatching -OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:GPN1 semapv:UnspecifiedMatching -OMIM:611479 XAB1 skos:exactMatch ncbigene:11321 semapv:UnspecifiedMatching -OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:26075 semapv:UnspecifiedMatching -OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:PIH1D1 semapv:UnspecifiedMatching -OMIM:611480 PIH1D1 skos:exactMatch ncbigene:55011 semapv:UnspecifiedMatching -OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:33821 semapv:UnspecifiedMatching -OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:UFSP1 semapv:UnspecifiedMatching -OMIM:611481 UFSP1 skos:exactMatch ncbigene:402682 semapv:UnspecifiedMatching -OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:25640 semapv:UnspecifiedMatching -OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:UFSP2 semapv:UnspecifiedMatching -OMIM:611482 UFSP2 skos:exactMatch ncbigene:55325 semapv:UnspecifiedMatching -OMIM:611483 YIPF5 skos:exactMatch UMLS:C1823890 semapv:UnspecifiedMatching -OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:24877 semapv:UnspecifiedMatching -OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:YIPF5 semapv:UnspecifiedMatching -OMIM:611483 YIPF5 skos:exactMatch ncbigene:81555 semapv:UnspecifiedMatching -OMIM:611484 YIF1A skos:exactMatch UMLS:C1823885 semapv:UnspecifiedMatching -OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:16688 semapv:UnspecifiedMatching -OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:YIF1A semapv:UnspecifiedMatching -OMIM:611484 YIF1A skos:exactMatch ncbigene:10897 semapv:UnspecifiedMatching -OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:18857 semapv:UnspecifiedMatching -OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:CYP4F12 semapv:UnspecifiedMatching -OMIM:611485 CYP4F12 skos:exactMatch ncbigene:66002 semapv:UnspecifiedMatching -OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:28852 semapv:UnspecifiedMatching -OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:SYCE1 semapv:UnspecifiedMatching -OMIM:611486 SYCE1 skos:exactMatch ncbigene:93426 semapv:UnspecifiedMatching -OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:27411 semapv:UnspecifiedMatching -OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:SYCE2 semapv:UnspecifiedMatching -OMIM:611487 SYCE2 skos:exactMatch ncbigene:256126 semapv:UnspecifiedMatching -OMIM:611491 RADIL skos:exactMatch hgnc.symbol:22226 semapv:UnspecifiedMatching -OMIM:611491 RADIL skos:exactMatch hgnc.symbol:RADIL semapv:UnspecifiedMatching -OMIM:611491 RADIL skos:exactMatch ncbigene:55698 semapv:UnspecifiedMatching -OMIM:611492 CA2 skos:exactMatch hgnc.symbol:1373 semapv:UnspecifiedMatching -OMIM:611492 CA2 skos:exactMatch hgnc.symbol:CA2 semapv:UnspecifiedMatching -OMIM:611492 CA2 skos:exactMatch ncbigene:760 semapv:UnspecifiedMatching -OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:26820 semapv:UnspecifiedMatching -OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:CYP4F22 semapv:UnspecifiedMatching -OMIM:611495 CYP4F22 skos:exactMatch ncbigene:126410 semapv:UnspecifiedMatching -OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:15802 semapv:UnspecifiedMatching -OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:GATA5 semapv:UnspecifiedMatching -OMIM:611496 GATA5 skos:exactMatch ncbigene:140628 semapv:UnspecifiedMatching -OMIM:611499 GUSB skos:exactMatch hgnc.symbol:4696 semapv:UnspecifiedMatching -OMIM:611499 GUSB skos:exactMatch hgnc.symbol:GUSB semapv:UnspecifiedMatching -OMIM:611499 GUSB skos:exactMatch ncbigene:2990 semapv:UnspecifiedMatching -OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:31597 semapv:UnspecifiedMatching -OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:MIR219A1 semapv:UnspecifiedMatching -OMIM:611500 MIR219-1 skos:exactMatch ncbigene:407002 semapv:UnspecifiedMatching -OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:18806 semapv:UnspecifiedMatching -OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:CAMTA1 semapv:UnspecifiedMatching -OMIM:611501 CAMTA1 skos:exactMatch ncbigene:23261 semapv:UnspecifiedMatching -OMIM:611502 CENPK skos:exactMatch hgnc.symbol:29479 semapv:UnspecifiedMatching -OMIM:611502 CENPK skos:exactMatch hgnc.symbol:CENPK semapv:UnspecifiedMatching -OMIM:611502 CENPK skos:exactMatch ncbigene:64105 semapv:UnspecifiedMatching -OMIM:611503 CENPL skos:exactMatch hgnc.symbol:17879 semapv:UnspecifiedMatching -OMIM:611503 CENPL skos:exactMatch hgnc.symbol:CENPL semapv:UnspecifiedMatching -OMIM:611503 CENPL skos:exactMatch ncbigene:91687 semapv:UnspecifiedMatching -OMIM:611504 CENPO skos:exactMatch hgnc.symbol:28152 semapv:UnspecifiedMatching -OMIM:611504 CENPO skos:exactMatch hgnc.symbol:CENPO semapv:UnspecifiedMatching -OMIM:611504 CENPO skos:exactMatch ncbigene:79172 semapv:UnspecifiedMatching -OMIM:611505 CENPP skos:exactMatch hgnc.symbol:32933 semapv:UnspecifiedMatching -OMIM:611505 CENPP skos:exactMatch hgnc.symbol:CENPP semapv:UnspecifiedMatching -OMIM:611505 CENPP skos:exactMatch ncbigene:401541 semapv:UnspecifiedMatching -OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:21347 semapv:UnspecifiedMatching -OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:CENPQ semapv:UnspecifiedMatching -OMIM:611506 CENPQ skos:exactMatch ncbigene:55166 semapv:UnspecifiedMatching -OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:24212 semapv:UnspecifiedMatching -OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:CISD2 semapv:UnspecifiedMatching -OMIM:611507 CISD2 skos:exactMatch ncbigene:493856 semapv:UnspecifiedMatching -OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:18807 semapv:UnspecifiedMatching -OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:CAMTA2 semapv:UnspecifiedMatching -OMIM:611508 CAMTA2 skos:exactMatch ncbigene:23125 semapv:UnspecifiedMatching -OMIM:611509 CENPN skos:exactMatch hgnc.symbol:30873 semapv:UnspecifiedMatching -OMIM:611509 CENPN skos:exactMatch hgnc.symbol:CENPN semapv:UnspecifiedMatching -OMIM:611509 CENPN skos:exactMatch ncbigene:55839 semapv:UnspecifiedMatching -OMIM:611510 CENPT skos:exactMatch hgnc.symbol:25787 semapv:UnspecifiedMatching -OMIM:611510 CENPT skos:exactMatch hgnc.symbol:CENPT semapv:UnspecifiedMatching -OMIM:611510 CENPT skos:exactMatch ncbigene:80152 semapv:UnspecifiedMatching -OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:21348 semapv:UnspecifiedMatching -OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:CENPU semapv:UnspecifiedMatching -OMIM:611511 MLF1IP skos:exactMatch ncbigene:79682 semapv:UnspecifiedMatching -OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:20815 semapv:UnspecifiedMatching -OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:KDM3A semapv:UnspecifiedMatching -OMIM:611512 KDM3A skos:exactMatch ncbigene:55818 semapv:UnspecifiedMatching -OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:13804 semapv:UnspecifiedMatching -OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:NEUROD6 semapv:UnspecifiedMatching -OMIM:611513 NEUROD6 skos:exactMatch ncbigene:63974 semapv:UnspecifiedMatching -OMIM:611514 WLS skos:exactMatch UMLS:C1825410 semapv:UnspecifiedMatching -OMIM:611514 WLS skos:exactMatch hgnc.symbol:30238 semapv:UnspecifiedMatching -OMIM:611514 WLS skos:exactMatch hgnc.symbol:WLS semapv:UnspecifiedMatching -OMIM:611514 WLS skos:exactMatch ncbigene:79971 semapv:UnspecifiedMatching -OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:18317 semapv:UnspecifiedMatching -OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:NICN1 semapv:UnspecifiedMatching -OMIM:611516 NICN1 skos:exactMatch ncbigene:84276 semapv:UnspecifiedMatching -OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:13265 semapv:UnspecifiedMatching -OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:CYP4F11 semapv:UnspecifiedMatching -OMIM:611517 CYP4F11 skos:exactMatch ncbigene:57834 semapv:UnspecifiedMatching -OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:23479 semapv:UnspecifiedMatching -OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:DOCK10 semapv:UnspecifiedMatching -OMIM:611518 DOCK10 skos:exactMatch ncbigene:55619 semapv:UnspecifiedMatching -OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:23781 semapv:UnspecifiedMatching -OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:POLDIP2 semapv:UnspecifiedMatching -OMIM:611519 POLDIP2 skos:exactMatch ncbigene:26073 semapv:UnspecifiedMatching -OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:23782 semapv:UnspecifiedMatching -OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:POLDIP3 semapv:UnspecifiedMatching -OMIM:611520 POLDIP3 skos:exactMatch ncbigene:84271 semapv:UnspecifiedMatching -OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:21406 semapv:UnspecifiedMatching -OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:RARS2 semapv:UnspecifiedMatching -OMIM:611524 RARS2 skos:exactMatch ncbigene:57038 semapv:UnspecifiedMatching -OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:14106 semapv:UnspecifiedMatching -OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:POLD4 semapv:UnspecifiedMatching -OMIM:611525 POLD4 skos:exactMatch ncbigene:57804 semapv:UnspecifiedMatching -OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:16821 semapv:UnspecifiedMatching -OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:NOP14 semapv:UnspecifiedMatching -OMIM:611526 NOP14 skos:exactMatch ncbigene:8602 semapv:UnspecifiedMatching -OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:24244 semapv:UnspecifiedMatching -OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:SLC9B1 semapv:UnspecifiedMatching -OMIM:611527 NHEDC1 skos:exactMatch ncbigene:150159 semapv:UnspecifiedMatching -OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:15654 semapv:UnspecifiedMatching -OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:CYP2S1 semapv:UnspecifiedMatching -OMIM:611529 CYP2S1 skos:exactMatch ncbigene:29785 semapv:UnspecifiedMatching -OMIM:611530 NLN skos:exactMatch hgnc.symbol:16058 semapv:UnspecifiedMatching -OMIM:611530 NLN skos:exactMatch hgnc.symbol:NLN semapv:UnspecifiedMatching -OMIM:611530 NLN skos:exactMatch ncbigene:57486 semapv:UnspecifiedMatching -OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:16912 semapv:UnspecifiedMatching -OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:EMG1 semapv:UnspecifiedMatching -OMIM:611531 EMG1 skos:exactMatch ncbigene:10436 semapv:UnspecifiedMatching -OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:19910 semapv:UnspecifiedMatching -OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:NOL6 semapv:UnspecifiedMatching -OMIM:611532 NOL6 skos:exactMatch ncbigene:65083 semapv:UnspecifiedMatching -OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:21040 semapv:UnspecifiedMatching -OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:NOL7 semapv:UnspecifiedMatching -OMIM:611533 NOL7 skos:exactMatch ncbigene:51406 semapv:UnspecifiedMatching -OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:23387 semapv:UnspecifiedMatching -OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:NOL8 semapv:UnspecifiedMatching -OMIM:611534 NOL8 skos:exactMatch ncbigene:55035 semapv:UnspecifiedMatching -OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:15879 semapv:UnspecifiedMatching -OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:CTNNBL1 semapv:UnspecifiedMatching -OMIM:611537 CTNNBL1 skos:exactMatch ncbigene:56259 semapv:UnspecifiedMatching -OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:8380 semapv:UnspecifiedMatching -OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:OR7D4 semapv:UnspecifiedMatching -OMIM:611538 OR7D4 skos:exactMatch ncbigene:125958 semapv:UnspecifiedMatching -OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:3804 semapv:UnspecifiedMatching -OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:FOXD3 semapv:UnspecifiedMatching -OMIM:611539 FOXD3 skos:exactMatch ncbigene:27022 semapv:UnspecifiedMatching -OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:25412 semapv:UnspecifiedMatching -OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:SGIP1 semapv:UnspecifiedMatching -OMIM:611540 SGIP1 skos:exactMatch ncbigene:84251 semapv:UnspecifiedMatching -OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:20073 semapv:UnspecifiedMatching -OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:SNX27 semapv:UnspecifiedMatching -OMIM:611541 SNX27 skos:exactMatch ncbigene:81609 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C1412554 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C4017252 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C4017253 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch UMLS:C4017254 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch hgnc.symbol:714 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch hgnc.symbol:ARSB semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch ncbigene:411 semapv:UnspecifiedMatching -OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:2648 semapv:UnspecifiedMatching -OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:CYP4F8 semapv:UnspecifiedMatching -OMIM:611545 CYP4F8 skos:exactMatch ncbigene:11283 semapv:UnspecifiedMatching -OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:15829 semapv:UnspecifiedMatching -OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:ELOVL6 semapv:UnspecifiedMatching -OMIM:611546 ELOVL6 skos:exactMatch ncbigene:79071 semapv:UnspecifiedMatching -OMIM:611549 NALCN skos:exactMatch hgnc.symbol:19082 semapv:UnspecifiedMatching -OMIM:611549 NALCN skos:exactMatch hgnc.symbol:NALCN semapv:UnspecifiedMatching -OMIM:611549 NALCN skos:exactMatch ncbigene:259232 semapv:UnspecifiedMatching -OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:19077 semapv:UnspecifiedMatching -OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:NCR3 semapv:UnspecifiedMatching -OMIM:611550 NCR3 skos:exactMatch ncbigene:259197 semapv:UnspecifiedMatching -OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:26740 semapv:UnspecifiedMatching -OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:FBLN7 semapv:UnspecifiedMatching -OMIM:611551 FBLN7 skos:exactMatch ncbigene:129804 semapv:UnspecifiedMatching -OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:30450 semapv:UnspecifiedMatching -OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:NAPRT semapv:UnspecifiedMatching -OMIM:611552 NAPRT skos:exactMatch ncbigene:93100 semapv:UnspecifiedMatching -OMIM:611553 noonan syndrome 5 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching -OMIM:611553 noonan syndrome 5 skos:exactMatch UMLS:C1969057 semapv:UnspecifiedMatching -OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies skos:exactMatch UMLS:C1969055 semapv:UnspecifiedMatching -OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch Orphanet:137625 semapv:UnspecifiedMatching -OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch UMLS:C1969054 semapv:UnspecifiedMatching -OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:12577 semapv:UnspecifiedMatching -OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:UPK1A semapv:UnspecifiedMatching -OMIM:611557 UPK1A skos:exactMatch ncbigene:11045 semapv:UnspecifiedMatching -OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:12579 semapv:UnspecifiedMatching -OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:UPK2 semapv:UnspecifiedMatching -OMIM:611558 UPK2 skos:exactMatch ncbigene:7379 semapv:UnspecifiedMatching -OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:12580 semapv:UnspecifiedMatching -OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:UPK3A semapv:UnspecifiedMatching -OMIM:611559 UPK3A skos:exactMatch ncbigene:7380 semapv:UnspecifiedMatching -OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:26348 semapv:UnspecifiedMatching -OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:SEPTIN12 semapv:UnspecifiedMatching -OMIM:611562 SEPT12 skos:exactMatch ncbigene:124404 semapv:UnspecifiedMatching -OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:32339 semapv:UnspecifiedMatching -OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:SEPTIN7P2 semapv:UnspecifiedMatching -OMIM:611563 SEPT13 skos:exactMatch ncbigene:641977 semapv:UnspecifiedMatching -OMIM:611564 BANP skos:exactMatch UMLS:C1538317 semapv:UnspecifiedMatching -OMIM:611564 BANP skos:exactMatch hgnc.symbol:13450 semapv:UnspecifiedMatching -OMIM:611564 BANP skos:exactMatch hgnc.symbol:BANP semapv:UnspecifiedMatching -OMIM:611564 BANP skos:exactMatch ncbigene:54971 semapv:UnspecifiedMatching -OMIM:611565 BLTP1 skos:exactMatch hgnc.symbol:BLTP1 semapv:UnspecifiedMatching -OMIM:611565 BLTP1 skos:exactMatch ncbigene:84162 semapv:UnspecifiedMatching -OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:9463 semapv:UnspecifiedMatching -OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:PRPS1L1 semapv:UnspecifiedMatching -OMIM:611566 PRPS1L1 skos:exactMatch ncbigene:221823 semapv:UnspecifiedMatching -OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:16126 semapv:UnspecifiedMatching -OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:MACROD2 semapv:UnspecifiedMatching -OMIM:611567 MACROD2 skos:exactMatch ncbigene:140733 semapv:UnspecifiedMatching -OMIM:611568 SYBU skos:exactMatch hgnc.symbol:26011 semapv:UnspecifiedMatching -OMIM:611568 SYBU skos:exactMatch hgnc.symbol:SYBU semapv:UnspecifiedMatching -OMIM:611568 SYBU skos:exactMatch ncbigene:55638 semapv:UnspecifiedMatching -OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:1990 semapv:UnspecifiedMatching -OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:CKAP2 semapv:UnspecifiedMatching -OMIM:611569 CKAP2 skos:exactMatch ncbigene:26586 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch UMLS:C1414544 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:3606 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:FBP1 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch ncbigene:2203 semapv:UnspecifiedMatching -OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:29799 semapv:UnspecifiedMatching -OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:SGMS1 semapv:UnspecifiedMatching -OMIM:611573 SGMS1 skos:exactMatch ncbigene:259230 semapv:UnspecifiedMatching -OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:28395 semapv:UnspecifiedMatching -OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:SGMS2 semapv:UnspecifiedMatching -OMIM:611574 SGMS2 skos:exactMatch ncbigene:166929 semapv:UnspecifiedMatching -OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:26320 semapv:UnspecifiedMatching -OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:SAMD8 semapv:UnspecifiedMatching -OMIM:611575 SAMD8 skos:exactMatch ncbigene:142891 semapv:UnspecifiedMatching -OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:31498 semapv:UnspecifiedMatching -OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:MIR10B semapv:UnspecifiedMatching -OMIM:611576 MIR10B skos:exactMatch ncbigene:406903 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch UMLS:C1428772 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch UMLS:C5193134 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:29012 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:KDM6B semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch ncbigene:23135 semapv:UnspecifiedMatching -OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:27622 semapv:UnspecifiedMatching -OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:FRRS1 semapv:UnspecifiedMatching -OMIM:611578 FRRS1 skos:exactMatch ncbigene:391059 semapv:UnspecifiedMatching -OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:33227 semapv:UnspecifiedMatching -OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:TMEM114 semapv:UnspecifiedMatching -OMIM:611579 TMEM114 skos:exactMatch ncbigene:283953 semapv:UnspecifiedMatching -OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:16978 semapv:UnspecifiedMatching -OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:EDDM3A semapv:UnspecifiedMatching -OMIM:611580 EDDM3A skos:exactMatch ncbigene:10876 semapv:UnspecifiedMatching -OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:19223 semapv:UnspecifiedMatching -OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:EDDM3B semapv:UnspecifiedMatching -OMIM:611582 FAM12B skos:exactMatch ncbigene:64184 semapv:UnspecifiedMatching -OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:17361 semapv:UnspecifiedMatching -OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:ARID5A semapv:UnspecifiedMatching -OMIM:611583 ARID5A skos:exactMatch ncbigene:10865 semapv:UnspecifiedMatching -OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching -OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching -OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch UMLS:C2700405 semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch UMLS:C1823264 semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch hgnc.symbol:26065 semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch hgnc.symbol:TESC semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch ncbigene:54997 semapv:UnspecifiedMatching -OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:24182 semapv:UnspecifiedMatching -OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:C1QL1 semapv:UnspecifiedMatching -OMIM:611586 C1QL1 skos:exactMatch ncbigene:10882 semapv:UnspecifiedMatching -OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:23724 semapv:UnspecifiedMatching -OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:ARHGAP19 semapv:UnspecifiedMatching -OMIM:611587 ARHGAP19 skos:exactMatch ncbigene:84986 semapv:UnspecifiedMatching -OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch Orphanet:206554 semapv:UnspecifiedMatching -OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching -OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:24888 semapv:UnspecifiedMatching -OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:PNPLA5 semapv:UnspecifiedMatching -OMIM:611589 PNPLA5 skos:exactMatch ncbigene:150379 semapv:UnspecifiedMatching -OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching -OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching -OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching -OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:16981 semapv:UnspecifiedMatching -OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:PPBPP2 semapv:UnspecifiedMatching -OMIM:611591 PPBPP2 skos:exactMatch ncbigene:10895 semapv:UnspecifiedMatching -OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:21062 semapv:UnspecifiedMatching -OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:FARS2 semapv:UnspecifiedMatching -OMIM:611592 FARS2 skos:exactMatch ncbigene:10667 semapv:UnspecifiedMatching -OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:17326 semapv:UnspecifiedMatching -OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:SMR3B semapv:UnspecifiedMatching -OMIM:611593 SMR3B skos:exactMatch ncbigene:10879 semapv:UnspecifiedMatching -OMIM:611594 USP39 skos:exactMatch hgnc.symbol:20071 semapv:UnspecifiedMatching -OMIM:611594 USP39 skos:exactMatch hgnc.symbol:USP39 semapv:UnspecifiedMatching -OMIM:611594 USP39 skos:exactMatch ncbigene:10713 semapv:UnspecifiedMatching -OMIM:611595 TXNL4A skos:exactMatch UMLS:C1540140 semapv:UnspecifiedMatching -OMIM:611595 TXNL4A skos:exactMatch UMLS:C1837822 semapv:UnspecifiedMatching -OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:30551 semapv:UnspecifiedMatching -OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:TXNL4A semapv:UnspecifiedMatching -OMIM:611595 TXNL4A skos:exactMatch ncbigene:10907 semapv:UnspecifiedMatching -OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:16985 semapv:UnspecifiedMatching -OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:DHRS4 semapv:UnspecifiedMatching -OMIM:611596 DHRS4 skos:exactMatch ncbigene:10901 semapv:UnspecifiedMatching -OMIM:611597 cataract 12, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:611597 cataract 12, multiple types skos:exactMatch UMLS:C3808115 semapv:UnspecifiedMatching -OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:31584 semapv:UnspecifiedMatching -OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:MIR206 semapv:UnspecifiedMatching -OMIM:611599 MIR206 skos:exactMatch ncbigene:406989 semapv:UnspecifiedMatching -OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:21292 semapv:UnspecifiedMatching -OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:RIMS3 semapv:UnspecifiedMatching -OMIM:611600 RIMS3 skos:exactMatch ncbigene:9783 semapv:UnspecifiedMatching -OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:16183 semapv:UnspecifiedMatching -OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:RIMS4 semapv:UnspecifiedMatching -OMIM:611601 RIMS4 skos:exactMatch ncbigene:140730 semapv:UnspecifiedMatching -OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:30339 semapv:UnspecifiedMatching -OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:RIMBP2 semapv:UnspecifiedMatching -OMIM:611602 RIMBP2 skos:exactMatch ncbigene:23504 semapv:UnspecifiedMatching -OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:16947 semapv:UnspecifiedMatching -OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:ERLIN1 semapv:UnspecifiedMatching -OMIM:611604 ERLIN1 skos:exactMatch ncbigene:10613 semapv:UnspecifiedMatching -OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:1356 semapv:UnspecifiedMatching -OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:ERLIN2 semapv:UnspecifiedMatching -OMIM:611605 ERLIN2 skos:exactMatch ncbigene:11160 semapv:UnspecifiedMatching -OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:31648 semapv:UnspecifiedMatching -OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:MIR96 semapv:UnspecifiedMatching -OMIM:611606 MIR96 skos:exactMatch ncbigene:407053 semapv:UnspecifiedMatching -OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:31553 semapv:UnspecifiedMatching -OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:MIR182 semapv:UnspecifiedMatching -OMIM:611607 MIR182 skos:exactMatch ncbigene:406958 semapv:UnspecifiedMatching -OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:31554 semapv:UnspecifiedMatching -OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:MIR183 semapv:UnspecifiedMatching -OMIM:611608 MIR183 skos:exactMatch ncbigene:406959 semapv:UnspecifiedMatching -OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:23800 semapv:UnspecifiedMatching -OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:SIPA1L2 semapv:UnspecifiedMatching -OMIM:611609 SIPA1L2 skos:exactMatch ncbigene:57568 semapv:UnspecifiedMatching -OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:20898 semapv:UnspecifiedMatching -OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:PGM2L1 semapv:UnspecifiedMatching -OMIM:611610 PGM2L1 skos:exactMatch ncbigene:283209 semapv:UnspecifiedMatching -OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:13081 semapv:UnspecifiedMatching -OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:SCAPER semapv:UnspecifiedMatching -OMIM:611611 SCAPER skos:exactMatch ncbigene:49855 semapv:UnspecifiedMatching -OMIM:611612 THTPA skos:exactMatch hgnc.symbol:18987 semapv:UnspecifiedMatching -OMIM:611612 THTPA skos:exactMatch hgnc.symbol:THTPA semapv:UnspecifiedMatching -OMIM:611612 THTPA skos:exactMatch ncbigene:79178 semapv:UnspecifiedMatching -OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:19350 semapv:UnspecifiedMatching -OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:POGLUT2 semapv:UnspecifiedMatching -OMIM:611613 POGLUT2 skos:exactMatch ncbigene:79070 semapv:UnspecifiedMatching -OMIM:611614 UTP3 skos:exactMatch UMLS:C1969026 semapv:UnspecifiedMatching -OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:24477 semapv:UnspecifiedMatching -OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:UTP3 semapv:UnspecifiedMatching -OMIM:611614 UTP3 skos:exactMatch ncbigene:57050 semapv:UnspecifiedMatching -OMIM:611616 NADK skos:exactMatch hgnc.symbol:29831 semapv:UnspecifiedMatching -OMIM:611616 NADK skos:exactMatch hgnc.symbol:NADK semapv:UnspecifiedMatching -OMIM:611616 NADK skos:exactMatch ncbigene:65220 semapv:UnspecifiedMatching -OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:29556 semapv:UnspecifiedMatching -OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:EFHD1 semapv:UnspecifiedMatching -OMIM:611617 EFHD1 skos:exactMatch ncbigene:80303 semapv:UnspecifiedMatching -OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:33660 semapv:UnspecifiedMatching -OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:MIR877 semapv:UnspecifiedMatching -OMIM:611619 MIR877 skos:exactMatch ncbigene:100126314 semapv:UnspecifiedMatching -OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:33923 semapv:UnspecifiedMatching -OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:MIR1224 semapv:UnspecifiedMatching -OMIM:611620 MIR1224 skos:exactMatch ncbigene:100187716 semapv:UnspecifiedMatching -OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:33931 semapv:UnspecifiedMatching -OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:MIR1225 semapv:UnspecifiedMatching -OMIM:611621 MIR1225 skos:exactMatch ncbigene:100188847 semapv:UnspecifiedMatching -OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:32406 semapv:UnspecifiedMatching -OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:IQCJ semapv:UnspecifiedMatching -OMIM:611622 IQCJ skos:exactMatch ncbigene:654502 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch UMLS:C1826394 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:24539 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:NECAP1 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch ncbigene:25977 semapv:UnspecifiedMatching -OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:25528 semapv:UnspecifiedMatching -OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:NECAP2 semapv:UnspecifiedMatching -OMIM:611624 NECAP2 skos:exactMatch ncbigene:55707 semapv:UnspecifiedMatching -OMIM:611625 GID8 skos:exactMatch hgnc.symbol:15857 semapv:UnspecifiedMatching -OMIM:611625 GID8 skos:exactMatch hgnc.symbol:GID8 semapv:UnspecifiedMatching -OMIM:611625 GID8 skos:exactMatch ncbigene:54994 semapv:UnspecifiedMatching -OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:29810 semapv:UnspecifiedMatching -OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:MPHOSPH8 semapv:UnspecifiedMatching -OMIM:611626 MPHOSPH8 skos:exactMatch ncbigene:54737 semapv:UnspecifiedMatching -OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:29646 semapv:UnspecifiedMatching -OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:TLCD3A semapv:UnspecifiedMatching -OMIM:611627 TLCD3A skos:exactMatch ncbigene:79850 semapv:UnspecifiedMatching -OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:15989 semapv:UnspecifiedMatching -OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:NAV1 semapv:UnspecifiedMatching -OMIM:611628 NAV1 skos:exactMatch ncbigene:89796 semapv:UnspecifiedMatching -OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:15998 semapv:UnspecifiedMatching -OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:NAV3 semapv:UnspecifiedMatching -OMIM:611629 NAV3 skos:exactMatch ncbigene:89795 semapv:UnspecifiedMatching -OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:30791 semapv:UnspecifiedMatching -OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:UBIAD1 semapv:UnspecifiedMatching -OMIM:611632 UBIAD1 skos:exactMatch ncbigene:29914 semapv:UnspecifiedMatching -OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:28996 semapv:UnspecifiedMatching -OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:RTF1 semapv:UnspecifiedMatching -OMIM:611633 RTF1 skos:exactMatch ncbigene:23168 semapv:UnspecifiedMatching -OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:13802 semapv:UnspecifiedMatching -OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:NEUROD4 semapv:UnspecifiedMatching -OMIM:611635 NEUROD4 skos:exactMatch ncbigene:58158 semapv:UnspecifiedMatching -OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:14526 semapv:UnspecifiedMatching -OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:NAALAD2 semapv:UnspecifiedMatching -OMIM:611636 NAALAD2 skos:exactMatch ncbigene:10003 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch UMLS:C1999257 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:37245 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:ZGLP1 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch ncbigene:100125288 semapv:UnspecifiedMatching -OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:23527 semapv:UnspecifiedMatching -OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:FANK1 semapv:UnspecifiedMatching -OMIM:611640 FANK1 skos:exactMatch ncbigene:92565 semapv:UnspecifiedMatching -OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:34400 semapv:UnspecifiedMatching -OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:HEPN1 semapv:UnspecifiedMatching -OMIM:611641 HEPN1 skos:exactMatch ncbigene:641654 semapv:UnspecifiedMatching -OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:26361 semapv:UnspecifiedMatching -OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:HEPACAM semapv:UnspecifiedMatching -OMIM:611642 HEPACAM skos:exactMatch ncbigene:220296 semapv:UnspecifiedMatching -OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:13854 semapv:UnspecifiedMatching -OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:ZKSCAN4 semapv:UnspecifiedMatching -OMIM:611643 ZKSCAN4 skos:exactMatch ncbigene:387032 semapv:UnspecifiedMatching -OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:24593 semapv:UnspecifiedMatching -OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:CXXC4 semapv:UnspecifiedMatching -OMIM:611645 CXXC4 skos:exactMatch ncbigene:80319 semapv:UnspecifiedMatching -OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:30619 semapv:UnspecifiedMatching -OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:SPHKAP semapv:UnspecifiedMatching -OMIM:611646 SPHKAP skos:exactMatch ncbigene:80309 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch UMLS:C1540200 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:29561 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:ARV1 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch ncbigene:64801 semapv:UnspecifiedMatching -OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:29035 semapv:UnspecifiedMatching -OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:PPIP5K2 semapv:UnspecifiedMatching -OMIM:611648 PPIP5K2 skos:exactMatch ncbigene:23262 semapv:UnspecifiedMatching -OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:23578 semapv:UnspecifiedMatching -OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:MINDY3 semapv:UnspecifiedMatching -OMIM:611649 MINDY3 skos:exactMatch ncbigene:80013 semapv:UnspecifiedMatching -OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:17934 semapv:UnspecifiedMatching -OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:PLA2G3 semapv:UnspecifiedMatching -OMIM:611651 PLA2G3 skos:exactMatch ncbigene:50487 semapv:UnspecifiedMatching -OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:18554 semapv:UnspecifiedMatching -OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:PLA2G12A semapv:UnspecifiedMatching -OMIM:611652 PLA2G12A skos:exactMatch ncbigene:81579 semapv:UnspecifiedMatching -OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:18555 semapv:UnspecifiedMatching -OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:PLA2G12B semapv:UnspecifiedMatching -OMIM:611653 PLA2G12B skos:exactMatch ncbigene:84647 semapv:UnspecifiedMatching -OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:26193 semapv:UnspecifiedMatching -OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:CSPP1 semapv:UnspecifiedMatching -OMIM:611654 CSPP1 skos:exactMatch ncbigene:79848 semapv:UnspecifiedMatching -OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:25712 semapv:UnspecifiedMatching -OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:PGAP1 semapv:UnspecifiedMatching -OMIM:611655 PGAP1 skos:exactMatch ncbigene:80055 semapv:UnspecifiedMatching -OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:26119 semapv:UnspecifiedMatching -OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:SIKE1 semapv:UnspecifiedMatching -OMIM:611656 SIKE1 skos:exactMatch ncbigene:80143 semapv:UnspecifiedMatching -OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:30628 semapv:UnspecifiedMatching -OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:SPSB1 semapv:UnspecifiedMatching -OMIM:611657 SPSB1 skos:exactMatch ncbigene:80176 semapv:UnspecifiedMatching -OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:29522 semapv:UnspecifiedMatching -OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:SPSB2 semapv:UnspecifiedMatching -OMIM:611658 SPSB2 skos:exactMatch ncbigene:84727 semapv:UnspecifiedMatching -OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:30629 semapv:UnspecifiedMatching -OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:SPSB3 semapv:UnspecifiedMatching -OMIM:611659 SPSB3 skos:exactMatch ncbigene:90864 semapv:UnspecifiedMatching -OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:30630 semapv:UnspecifiedMatching -OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:SPSB4 semapv:UnspecifiedMatching -OMIM:611660 SPSB4 skos:exactMatch ncbigene:92369 semapv:UnspecifiedMatching -OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:17883 semapv:UnspecifiedMatching -OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:DBF4B semapv:UnspecifiedMatching -OMIM:611661 DBF4B skos:exactMatch ncbigene:80174 semapv:UnspecifiedMatching -OMIM:611662 EGOT skos:exactMatch hgnc.symbol:37129 semapv:UnspecifiedMatching -OMIM:611662 EGOT skos:exactMatch hgnc.symbol:EGOT semapv:UnspecifiedMatching -OMIM:611662 EGOT skos:exactMatch ncbigene:100126791 semapv:UnspecifiedMatching -OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:16133 semapv:UnspecifiedMatching -OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:TBC1D20 semapv:UnspecifiedMatching -OMIM:611663 TBC1D20 skos:exactMatch ncbigene:128637 semapv:UnspecifiedMatching -OMIM:611665 DDX54 skos:exactMatch UMLS:C1426670 semapv:UnspecifiedMatching -OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:20084 semapv:UnspecifiedMatching -OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:DDX54 semapv:UnspecifiedMatching -OMIM:611665 DDX54 skos:exactMatch ncbigene:79039 semapv:UnspecifiedMatching -OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:23682 semapv:UnspecifiedMatching -OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:PLPP6 semapv:UnspecifiedMatching -OMIM:611666 PLPP6 skos:exactMatch ncbigene:403313 semapv:UnspecifiedMatching -OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:18650 semapv:UnspecifiedMatching -OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:SPATS2 semapv:UnspecifiedMatching -OMIM:611667 SPATS2 skos:exactMatch ncbigene:65244 semapv:UnspecifiedMatching -OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:26161 semapv:UnspecifiedMatching -OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:CORO7 semapv:UnspecifiedMatching -OMIM:611668 CORO7 skos:exactMatch ncbigene:79585 semapv:UnspecifiedMatching -OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:25980 semapv:UnspecifiedMatching -OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:TRMT1 semapv:UnspecifiedMatching -OMIM:611669 TRMT1 skos:exactMatch ncbigene:55621 semapv:UnspecifiedMatching -OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:29821 semapv:UnspecifiedMatching -OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:ISYNA1 semapv:UnspecifiedMatching -OMIM:611670 ISYNA1 skos:exactMatch ncbigene:51477 semapv:UnspecifiedMatching -OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:30596 semapv:UnspecifiedMatching -OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:PIGZ semapv:UnspecifiedMatching -OMIM:611671 PIGZ skos:exactMatch ncbigene:80235 semapv:UnspecifiedMatching -OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:30521 semapv:UnspecifiedMatching -OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:SLC46A1 semapv:UnspecifiedMatching -OMIM:611672 SLC46A1 skos:exactMatch ncbigene:113235 semapv:UnspecifiedMatching -OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:16782 semapv:UnspecifiedMatching -OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:TRMT1L semapv:UnspecifiedMatching -OMIM:611673 TRMT1L skos:exactMatch ncbigene:81627 semapv:UnspecifiedMatching -OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:28778 semapv:UnspecifiedMatching -OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:XKR3 semapv:UnspecifiedMatching -OMIM:611674 XKR3 skos:exactMatch ncbigene:150165 semapv:UnspecifiedMatching -OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:29058 semapv:UnspecifiedMatching -OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:KIAA0513 semapv:UnspecifiedMatching -OMIM:611675 KIAA0513 skos:exactMatch ncbigene:9764 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch UMLS:C1428867 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:29524 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:PDCL2 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch ncbigene:132954 semapv:UnspecifiedMatching -OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:14999 semapv:UnspecifiedMatching -OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:OR13G1 semapv:UnspecifiedMatching -OMIM:611677 OR13G1 skos:exactMatch ncbigene:441933 semapv:UnspecifiedMatching -OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:28860 semapv:UnspecifiedMatching -OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:PDCL3 semapv:UnspecifiedMatching -OMIM:611678 PDCL3 skos:exactMatch ncbigene:79031 semapv:UnspecifiedMatching -OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:1211 semapv:UnspecifiedMatching -OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:FBXW10 semapv:UnspecifiedMatching -OMIM:611679 FBXW10 skos:exactMatch ncbigene:10517 semapv:UnspecifiedMatching -OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:28667 semapv:UnspecifiedMatching -OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:C1orf116 semapv:UnspecifiedMatching -OMIM:611680 C1ORF116 skos:exactMatch ncbigene:79098 semapv:UnspecifiedMatching -OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:17178 semapv:UnspecifiedMatching -OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:ADAMTS20 semapv:UnspecifiedMatching -OMIM:611681 ADAMTS20 skos:exactMatch ncbigene:80070 semapv:UnspecifiedMatching -OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:21210 semapv:UnspecifiedMatching -OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:LPAL2 semapv:UnspecifiedMatching -OMIM:611682 LPAL2 skos:exactMatch ncbigene:80350 semapv:UnspecifiedMatching -OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:25700 semapv:UnspecifiedMatching -OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:FN3KRP semapv:UnspecifiedMatching -OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch ncbigene:79672 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch UMLS:C1424600 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch hgnc.symbol:16860 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch hgnc.symbol:SART3 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch ncbigene:9733 semapv:UnspecifiedMatching -OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:10071 semapv:UnspecifiedMatching -OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:RNF8 semapv:UnspecifiedMatching -OMIM:611685 RNF8 skos:exactMatch ncbigene:9025 semapv:UnspecifiedMatching -OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:16014 semapv:UnspecifiedMatching -OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:CASD1 semapv:UnspecifiedMatching -OMIM:611686 CASD1 skos:exactMatch ncbigene:64921 semapv:UnspecifiedMatching -OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:33699 semapv:UnspecifiedMatching -OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:KHDC3L semapv:UnspecifiedMatching -OMIM:611687 KHDC3L skos:exactMatch ncbigene:154288 semapv:UnspecifiedMatching -OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:21366 semapv:UnspecifiedMatching -OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:KHDC1 semapv:UnspecifiedMatching -OMIM:611688 KHDC1 skos:exactMatch ncbigene:80759 semapv:UnspecifiedMatching -OMIM:611689 OOEP skos:exactMatch hgnc.symbol:21382 semapv:UnspecifiedMatching -OMIM:611689 OOEP skos:exactMatch hgnc.symbol:OOEP semapv:UnspecifiedMatching -OMIM:611689 OOEP skos:exactMatch ncbigene:441161 semapv:UnspecifiedMatching -OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:30799 semapv:UnspecifiedMatching -OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:PRRG4 semapv:UnspecifiedMatching -OMIM:611690 PRRG4 skos:exactMatch ncbigene:79056 semapv:UnspecifiedMatching -OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:15985 semapv:UnspecifiedMatching -OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:SVEP1 semapv:UnspecifiedMatching -OMIM:611691 SVEP1 skos:exactMatch ncbigene:79987 semapv:UnspecifiedMatching -OMIM:611692 ZBTB34 skos:exactMatch hgnc.symbol:31446 semapv:UnspecifiedMatching -OMIM:611692 ZBTB34 skos:exactMatch hgnc.symbol:ZBTB34 semapv:UnspecifiedMatching -OMIM:611692 ZBTB34 skos:exactMatch ncbigene:403341 semapv:UnspecifiedMatching -OMIM:611693 CLMP skos:exactMatch hgnc.symbol:24039 semapv:UnspecifiedMatching -OMIM:611693 CLMP skos:exactMatch hgnc.symbol:CLMP semapv:UnspecifiedMatching -OMIM:611693 CLMP skos:exactMatch ncbigene:79827 semapv:UnspecifiedMatching -OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:19141 semapv:UnspecifiedMatching -OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:TTBK2 semapv:UnspecifiedMatching -OMIM:611695 TTBK2 skos:exactMatch ncbigene:146057 semapv:UnspecifiedMatching -OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:29867 semapv:UnspecifiedMatching -OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:SLC22A20P semapv:UnspecifiedMatching -OMIM:611696 SLC22A20 skos:exactMatch ncbigene:440044 semapv:UnspecifiedMatching -OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:21106 semapv:UnspecifiedMatching -OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:SLC22A23 semapv:UnspecifiedMatching -OMIM:611697 SLC22A23 skos:exactMatch ncbigene:63027 semapv:UnspecifiedMatching -OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:28542 semapv:UnspecifiedMatching -OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:SLC22A24 semapv:UnspecifiedMatching -OMIM:611698 SLC22A24 skos:exactMatch ncbigene:283238 semapv:UnspecifiedMatching -OMIM:611699 SVOP skos:exactMatch hgnc.symbol:25417 semapv:UnspecifiedMatching -OMIM:611699 SVOP skos:exactMatch hgnc.symbol:SVOP semapv:UnspecifiedMatching -OMIM:611699 SVOP skos:exactMatch ncbigene:55530 semapv:UnspecifiedMatching -OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:27034 semapv:UnspecifiedMatching -OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:SVOPL semapv:UnspecifiedMatching -OMIM:611700 SVOPL skos:exactMatch ncbigene:136306 semapv:UnspecifiedMatching -OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:28433 semapv:UnspecifiedMatching -OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:SPNS3 semapv:UnspecifiedMatching -OMIM:611701 SPNS3 skos:exactMatch ncbigene:201305 semapv:UnspecifiedMatching -OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:20814 semapv:UnspecifiedMatching -OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:ZNF436 semapv:UnspecifiedMatching -OMIM:611703 ZNF436 skos:exactMatch ncbigene:80818 semapv:UnspecifiedMatching -OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:27954 semapv:UnspecifiedMatching -OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:TMPRSS11A semapv:UnspecifiedMatching -OMIM:611704 TMPRSS11A skos:exactMatch ncbigene:339967 semapv:UnspecifiedMatching -OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:27279 semapv:UnspecifiedMatching -OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:MPZL3 semapv:UnspecifiedMatching -OMIM:611707 MPZL3 skos:exactMatch ncbigene:196264 semapv:UnspecifiedMatching -OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:32027 semapv:UnspecifiedMatching -OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:MIR431 semapv:UnspecifiedMatching -OMIM:611708 MIR431 skos:exactMatch ncbigene:574038 semapv:UnspecifiedMatching -OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:31509 semapv:UnspecifiedMatching -OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:MIR127 semapv:UnspecifiedMatching -OMIM:611709 MIR127 skos:exactMatch ncbigene:406914 semapv:UnspecifiedMatching -OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:31522 semapv:UnspecifiedMatching -OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:MIR136 semapv:UnspecifiedMatching -OMIM:611710 MIR136 skos:exactMatch ncbigene:406927 semapv:UnspecifiedMatching -OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:32026 semapv:UnspecifiedMatching -OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:MIR433 semapv:UnspecifiedMatching -OMIM:611711 MIR433 skos:exactMatch ncbigene:574034 semapv:UnspecifiedMatching -OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:19007 semapv:UnspecifiedMatching -OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:HIPK4 semapv:UnspecifiedMatching -OMIM:611712 HIPK4 skos:exactMatch ncbigene:147746 semapv:UnspecifiedMatching -OMIM:611713 DYNLT4 skos:exactMatch hgnc.symbol:32315 semapv:UnspecifiedMatching -OMIM:611713 DYNLT4 skos:exactMatch hgnc.symbol:DYNLT4 semapv:UnspecifiedMatching -OMIM:611713 DYNLT4 skos:exactMatch ncbigene:343521 semapv:UnspecifiedMatching -OMIM:611714 GAPVD1 skos:exactMatch hgnc.symbol:23375 semapv:UnspecifiedMatching -OMIM:611714 GAPVD1 skos:exactMatch hgnc.symbol:GAPVD1 semapv:UnspecifiedMatching -OMIM:611714 GAPVD1 skos:exactMatch ncbigene:26130 semapv:UnspecifiedMatching -OMIM:611715 SRD5A3 skos:exactMatch hgnc.symbol:25812 semapv:UnspecifiedMatching -OMIM:611715 SRD5A3 skos:exactMatch hgnc.symbol:SRD5A3 semapv:UnspecifiedMatching -OMIM:611715 SRD5A3 skos:exactMatch ncbigene:79644 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C0268355 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C0406587 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C1425544 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:18481 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:ATP6V0A2 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch ncbigene:23545 semapv:UnspecifiedMatching -OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:14282 semapv:UnspecifiedMatching -OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:IRF2BPL semapv:UnspecifiedMatching -OMIM:611720 IRF2BPL skos:exactMatch ncbigene:64207 semapv:UnspecifiedMatching -OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:1265 semapv:UnspecifiedMatching -OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:LINC00114 semapv:UnspecifiedMatching -OMIM:611723 C21ORF24 skos:exactMatch ncbigene:400866 semapv:UnspecifiedMatching -OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:21957 semapv:UnspecifiedMatching -OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:KCTD7 semapv:UnspecifiedMatching -OMIM:611725 KCTD7 skos:exactMatch ncbigene:154881 semapv:UnspecifiedMatching -OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:28274 semapv:UnspecifiedMatching -OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:FAM163A semapv:UnspecifiedMatching -OMIM:611727 C1ORF76 skos:exactMatch ncbigene:148753 semapv:UnspecifiedMatching -OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:25878 semapv:UnspecifiedMatching -OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:PRR5L semapv:UnspecifiedMatching -OMIM:611728 PRR5L skos:exactMatch ncbigene:79899 semapv:UnspecifiedMatching -OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:20716 semapv:UnspecifiedMatching -OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:KLC2 semapv:UnspecifiedMatching -OMIM:611729 KLC2 skos:exactMatch ncbigene:64837 semapv:UnspecifiedMatching -OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:19819 semapv:UnspecifiedMatching -OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:EPB41L5 semapv:UnspecifiedMatching -OMIM:611730 EPB41L5 skos:exactMatch ncbigene:57669 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C0162832 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C1861807 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C2673224 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C2673229 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C4015935 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C4017261 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C4017262 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch UMLS:C4310860 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch hgnc.symbol:583 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch hgnc.symbol:APC semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch ncbigene:324 semapv:UnspecifiedMatching -OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:21579 semapv:UnspecifiedMatching -OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:MBOAT1 semapv:UnspecifiedMatching -OMIM:611732 MBOAT1 skos:exactMatch ncbigene:154141 semapv:UnspecifiedMatching -OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:29652 semapv:UnspecifiedMatching -OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:WDR77 semapv:UnspecifiedMatching -OMIM:611734 WDR77 skos:exactMatch ncbigene:79084 semapv:UnspecifiedMatching -OMIM:611735 CDCP1 skos:exactMatch hgnc.symbol:24357 semapv:UnspecifiedMatching -OMIM:611735 CDCP1 skos:exactMatch hgnc.symbol:CDCP1 semapv:UnspecifiedMatching -OMIM:611735 CDCP1 skos:exactMatch ncbigene:64866 semapv:UnspecifiedMatching -OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:24885 semapv:UnspecifiedMatching -OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:GREB1 semapv:UnspecifiedMatching -OMIM:611736 greb1 protein skos:exactMatch ncbigene:9687 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:14349 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching -OMIM:611740 BCO2 skos:exactMatch UMLS:C1425564 semapv:UnspecifiedMatching -OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:18503 semapv:UnspecifiedMatching -OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching -OMIM:611740 BCO2 skos:exactMatch ncbigene:83875 semapv:UnspecifiedMatching -OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:101 semapv:UnspecifiedMatching -OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:ASIC3 semapv:UnspecifiedMatching -OMIM:611741 ASIC3 skos:exactMatch ncbigene:9311 semapv:UnspecifiedMatching -OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:25562 semapv:UnspecifiedMatching -OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:PLEKHG6 semapv:UnspecifiedMatching -OMIM:611743 PLEKHG6 skos:exactMatch ncbigene:55200 semapv:UnspecifiedMatching -OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:24949 semapv:UnspecifiedMatching -OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:OTUD4 semapv:UnspecifiedMatching -OMIM:611744 OTUD4 skos:exactMatch ncbigene:54726 semapv:UnspecifiedMatching -OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:30897 semapv:UnspecifiedMatching -OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:VCPIP1 semapv:UnspecifiedMatching -OMIM:611745 VCPIP1 skos:exactMatch ncbigene:80124 semapv:UnspecifiedMatching -OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:13441 semapv:UnspecifiedMatching -OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:SCUBE1 semapv:UnspecifiedMatching -OMIM:611746 SCUBE1 skos:exactMatch ncbigene:80274 semapv:UnspecifiedMatching -OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:30425 semapv:UnspecifiedMatching -OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:SCUBE2 semapv:UnspecifiedMatching -OMIM:611747 SCUBE2 skos:exactMatch ncbigene:57758 semapv:UnspecifiedMatching -OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:16683 semapv:UnspecifiedMatching -OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:OTUD7B semapv:UnspecifiedMatching -OMIM:611748 OTUD7B skos:exactMatch ncbigene:56957 semapv:UnspecifiedMatching -OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:18224 semapv:UnspecifiedMatching -OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:ZRANB1 semapv:UnspecifiedMatching -OMIM:611749 ZRANB1 skos:exactMatch ncbigene:54764 semapv:UnspecifiedMatching -OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:28897 semapv:UnspecifiedMatching -OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:SYNC semapv:UnspecifiedMatching -OMIM:611750 SYNC1 skos:exactMatch ncbigene:81493 semapv:UnspecifiedMatching -OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:14890 semapv:UnspecifiedMatching -OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:THUMPD2 semapv:UnspecifiedMatching -OMIM:611751 THUMPD2 skos:exactMatch ncbigene:80745 semapv:UnspecifiedMatching -OMIM:611752 ECRG4 skos:exactMatch UMLS:C1824107 semapv:UnspecifiedMatching -OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:24642 semapv:UnspecifiedMatching -OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:ECRG4 semapv:UnspecifiedMatching -OMIM:611752 ECRG4 skos:exactMatch ncbigene:84417 semapv:UnspecifiedMatching -OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:29559 semapv:UnspecifiedMatching -OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:VMP1 semapv:UnspecifiedMatching -OMIM:611753 VMP1 skos:exactMatch ncbigene:81671 semapv:UnspecifiedMatching -OMIM:611754 AADAT skos:exactMatch hgnc.symbol:17929 semapv:UnspecifiedMatching -OMIM:611754 AADAT skos:exactMatch hgnc.symbol:AADAT semapv:UnspecifiedMatching -OMIM:611754 AADAT skos:exactMatch ncbigene:51166 semapv:UnspecifiedMatching -OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:24060 semapv:UnspecifiedMatching -OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:ROPN1L semapv:UnspecifiedMatching -OMIM:611756 ROPN1L skos:exactMatch ncbigene:83853 semapv:UnspecifiedMatching -OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:17692 semapv:UnspecifiedMatching -OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:ROPN1 semapv:UnspecifiedMatching -OMIM:611757 ROPN1 skos:exactMatch ncbigene:54763 semapv:UnspecifiedMatching -OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:29038 semapv:UnspecifiedMatching -OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:OTUD3 semapv:UnspecifiedMatching -OMIM:611758 OTUD3 skos:exactMatch ncbigene:23252 semapv:UnspecifiedMatching -OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:19169 semapv:UnspecifiedMatching -OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:STARD3NL semapv:UnspecifiedMatching -OMIM:611759 STARD3NL skos:exactMatch ncbigene:83930 semapv:UnspecifiedMatching -OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:14267 semapv:UnspecifiedMatching -OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:PCDH17 semapv:UnspecifiedMatching -OMIM:611760 PCDH17 skos:exactMatch ncbigene:27253 semapv:UnspecifiedMatching -OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:14154 semapv:UnspecifiedMatching -OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:LMF1 semapv:UnspecifiedMatching -OMIM:611761 LMF1 skos:exactMatch ncbigene:64788 semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch UMLS:C1825795 semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch hgnc.symbol:29532 semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch hgnc.symbol:LBH semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch ncbigene:81606 semapv:UnspecifiedMatching -OMIM:611764 CNFN skos:exactMatch hgnc.symbol:30183 semapv:UnspecifiedMatching -OMIM:611764 CNFN skos:exactMatch hgnc.symbol:CNFN semapv:UnspecifiedMatching -OMIM:611764 CNFN skos:exactMatch ncbigene:84518 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch UMLS:C2239905 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:26321 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:ASPRV1 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch ncbigene:151516 semapv:UnspecifiedMatching -OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:29666 semapv:UnspecifiedMatching -OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:MTFMT semapv:UnspecifiedMatching -OMIM:611766 MTFMT skos:exactMatch ncbigene:123263 semapv:UnspecifiedMatching -OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:31508 semapv:UnspecifiedMatching -OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:MIR126 semapv:UnspecifiedMatching -OMIM:611767 MIR126 skos:exactMatch ncbigene:406913 semapv:UnspecifiedMatching -OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:31773 semapv:UnspecifiedMatching -OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:MIR335 semapv:UnspecifiedMatching -OMIM:611768 MIR335 skos:exactMatch ncbigene:442904 semapv:UnspecifiedMatching -OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:31511 semapv:UnspecifiedMatching -OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:MIR128-2 semapv:UnspecifiedMatching -OMIM:611769 MIR128-2 skos:exactMatch ncbigene:406916 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch UMLS:C0041207 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1826429 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1857586 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:32940 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:NKX2-6 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch ncbigene:137814 semapv:UnspecifiedMatching -OMIM:611772 NUF2 skos:exactMatch UMLS:C1826495 semapv:UnspecifiedMatching -OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:14621 semapv:UnspecifiedMatching -OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:NUF2 semapv:UnspecifiedMatching -OMIM:611772 NUF2 skos:exactMatch ncbigene:83540 semapv:UnspecifiedMatching -OMIM:611774 MIR128-1 skos:exactMatch hgnc.symbol:31510 semapv:UnspecifiedMatching -OMIM:611774 MIR128-1 skos:exactMatch hgnc.symbol:MIR128-1 semapv:UnspecifiedMatching -OMIM:611774 MIR128-1 skos:exactMatch ncbigene:406915 semapv:UnspecifiedMatching -OMIM:611775 kawasaki disease skos:exactMatch Orphanet:2331 semapv:UnspecifiedMatching -OMIM:611775 kawasaki disease skos:exactMatch UMLS:C0026691 semapv:UnspecifiedMatching -OMIM:611775 kawasaki disease skos:exactMatch UMLS:C2936917 semapv:UnspecifiedMatching -OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:21034 semapv:UnspecifiedMatching -OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:NDUFAF4 semapv:UnspecifiedMatching -OMIM:611776 NDUFAF4 skos:exactMatch ncbigene:29078 semapv:UnspecifiedMatching -OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:28956 semapv:UnspecifiedMatching -OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:GPD1L semapv:UnspecifiedMatching -OMIM:611778 GPD1L skos:exactMatch ncbigene:23171 semapv:UnspecifiedMatching -OMIM:611779 FSCB skos:exactMatch hgnc.symbol:20494 semapv:UnspecifiedMatching -OMIM:611779 FSCB skos:exactMatch hgnc.symbol:FSCB semapv:UnspecifiedMatching -OMIM:611779 FSCB skos:exactMatch ncbigene:84075 semapv:UnspecifiedMatching -OMIM:611780 PHRF1 skos:exactMatch hgnc.symbol:24351 semapv:UnspecifiedMatching -OMIM:611780 PHRF1 skos:exactMatch hgnc.symbol:PHRF1 semapv:UnspecifiedMatching -OMIM:611780 PHRF1 skos:exactMatch ncbigene:57661 semapv:UnspecifiedMatching -OMIM:611781 PRDM14 skos:exactMatch hgnc.symbol:14001 semapv:UnspecifiedMatching -OMIM:611781 PRDM14 skos:exactMatch hgnc.symbol:PRDM14 semapv:UnspecifiedMatching -OMIM:611781 PRDM14 skos:exactMatch ncbigene:63978 semapv:UnspecifiedMatching -OMIM:611782 DSCAML1 skos:exactMatch hgnc.symbol:14656 semapv:UnspecifiedMatching -OMIM:611782 DSCAML1 skos:exactMatch hgnc.symbol:DSCAML1 semapv:UnspecifiedMatching -OMIM:611782 DSCAML1 skos:exactMatch ncbigene:57453 semapv:UnspecifiedMatching -OMIM:611784 GTF3C6 skos:exactMatch hgnc.symbol:20872 semapv:UnspecifiedMatching -OMIM:611784 GTF3C6 skos:exactMatch hgnc.symbol:GTF3C6 semapv:UnspecifiedMatching -OMIM:611784 GTF3C6 skos:exactMatch ncbigene:112495 semapv:UnspecifiedMatching -OMIM:611785 ABCB5 skos:exactMatch hgnc.symbol:46 semapv:UnspecifiedMatching -OMIM:611785 ABCB5 skos:exactMatch hgnc.symbol:ABCB5 semapv:UnspecifiedMatching -OMIM:611785 ABCB5 skos:exactMatch ncbigene:340273 semapv:UnspecifiedMatching -OMIM:611786 MEMO1 skos:exactMatch UMLS:C1422348 semapv:UnspecifiedMatching -OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:14014 semapv:UnspecifiedMatching -OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:MEMO1 semapv:UnspecifiedMatching -OMIM:611786 MEMO1 skos:exactMatch ncbigene:51072 semapv:UnspecifiedMatching -OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:27015 semapv:UnspecifiedMatching -OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:CMPK2 semapv:UnspecifiedMatching -OMIM:611787 CMPK2 skos:exactMatch ncbigene:129607 semapv:UnspecifiedMatching -OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:25143 semapv:UnspecifiedMatching -OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:SLC9B2 semapv:UnspecifiedMatching -OMIM:611789 NHEDC2 skos:exactMatch ncbigene:133308 semapv:UnspecifiedMatching -OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:19156 semapv:UnspecifiedMatching -OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:MYRIP semapv:UnspecifiedMatching -OMIM:611790 MYRIP skos:exactMatch ncbigene:25924 semapv:UnspecifiedMatching -OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:24776 semapv:UnspecifiedMatching -OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:PTCHD3 semapv:UnspecifiedMatching -OMIM:611791 PTCHD3 skos:exactMatch ncbigene:374308 semapv:UnspecifiedMatching -OMIM:611792 ZCCHC4 skos:exactMatch UMLS:C1427776 semapv:UnspecifiedMatching -OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:22917 semapv:UnspecifiedMatching -OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:ZCCHC4 semapv:UnspecifiedMatching -OMIM:611792 ZCCHC4 skos:exactMatch ncbigene:29063 semapv:UnspecifiedMatching -OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:26407 semapv:UnspecifiedMatching -OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:LSM12 semapv:UnspecifiedMatching -OMIM:611793 LSM12 skos:exactMatch ncbigene:124801 semapv:UnspecifiedMatching -OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:31783 semapv:UnspecifiedMatching -OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:MIR369 semapv:UnspecifiedMatching -OMIM:611794 MIR369 skos:exactMatch ncbigene:442914 semapv:UnspecifiedMatching -OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:31532 semapv:UnspecifiedMatching -OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:MIR145 semapv:UnspecifiedMatching -OMIM:611795 MIR145 skos:exactMatch ncbigene:406937 semapv:UnspecifiedMatching -OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:13707 semapv:UnspecifiedMatching -OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:SCG3 semapv:UnspecifiedMatching -OMIM:611796 SCG3 skos:exactMatch ncbigene:29106 semapv:UnspecifiedMatching -OMIM:611797 UQCC1 skos:exactMatch hgnc.symbol:15891 semapv:UnspecifiedMatching -OMIM:611797 UQCC1 skos:exactMatch hgnc.symbol:UQCC1 semapv:UnspecifiedMatching -OMIM:611797 UQCC1 skos:exactMatch ncbigene:55245 semapv:UnspecifiedMatching -OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:28970 semapv:UnspecifiedMatching -OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:EFR3A semapv:UnspecifiedMatching -OMIM:611798 EFR3A skos:exactMatch ncbigene:23167 semapv:UnspecifiedMatching -OMIM:611799 LCORL skos:exactMatch hgnc.symbol:30776 semapv:UnspecifiedMatching -OMIM:611799 LCORL skos:exactMatch hgnc.symbol:LCORL semapv:UnspecifiedMatching -OMIM:611799 LCORL skos:exactMatch ncbigene:254251 semapv:UnspecifiedMatching -OMIM:611800 THADA skos:exactMatch hgnc.symbol:19217 semapv:UnspecifiedMatching -OMIM:611800 THADA skos:exactMatch hgnc.symbol:THADA semapv:UnspecifiedMatching -OMIM:611800 THADA skos:exactMatch ncbigene:63892 semapv:UnspecifiedMatching -OMIM:611801 PGAP3 skos:exactMatch UMLS:C1538624 semapv:UnspecifiedMatching -OMIM:611801 PGAP3 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching -OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:23719 semapv:UnspecifiedMatching -OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:PGAP3 semapv:UnspecifiedMatching -OMIM:611801 PGAP3 skos:exactMatch ncbigene:93210 semapv:UnspecifiedMatching -OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:28230 semapv:UnspecifiedMatching -OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:MIEN1 semapv:UnspecifiedMatching -OMIM:611802 MIEN1 skos:exactMatch ncbigene:84299 semapv:UnspecifiedMatching -OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:30697 semapv:UnspecifiedMatching -OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:ITFG1 semapv:UnspecifiedMatching -OMIM:611803 ITFG1 skos:exactMatch ncbigene:81533 semapv:UnspecifiedMatching -OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:21308 semapv:UnspecifiedMatching -OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:ELOVL5 semapv:UnspecifiedMatching -OMIM:611805 ELOVL5 skos:exactMatch ncbigene:60481 semapv:UnspecifiedMatching -OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:17452 semapv:UnspecifiedMatching -OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:AS3MT semapv:UnspecifiedMatching -OMIM:611806 AS3MT skos:exactMatch ncbigene:57412 semapv:UnspecifiedMatching -OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:30231 semapv:UnspecifiedMatching -OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:TIPRL semapv:UnspecifiedMatching -OMIM:611807 TIPRL skos:exactMatch ncbigene:261726 semapv:UnspecifiedMatching -OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:24058 semapv:UnspecifiedMatching -OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:USHBP1 semapv:UnspecifiedMatching -OMIM:611810 USHBP1 skos:exactMatch ncbigene:83878 semapv:UnspecifiedMatching -OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:15624 semapv:UnspecifiedMatching -OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:ZNF333 semapv:UnspecifiedMatching -OMIM:611811 ZNF333 skos:exactMatch ncbigene:84449 semapv:UnspecifiedMatching -OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:14418 semapv:UnspecifiedMatching -OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:ELOVL1 semapv:UnspecifiedMatching -OMIM:611813 ELOVL1 skos:exactMatch ncbigene:64834 semapv:UnspecifiedMatching -OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:14416 semapv:UnspecifiedMatching -OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:ELOVL2 semapv:UnspecifiedMatching -OMIM:611814 ELOVL2 skos:exactMatch ncbigene:54898 semapv:UnspecifiedMatching -OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:18047 semapv:UnspecifiedMatching -OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:ELOVL3 semapv:UnspecifiedMatching -OMIM:611815 ELOVL3 skos:exactMatch ncbigene:83401 semapv:UnspecifiedMatching -OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:18788 semapv:UnspecifiedMatching -OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:KLRK1 semapv:UnspecifiedMatching -OMIM:611817 KLRK1 skos:exactMatch ncbigene:22914 semapv:UnspecifiedMatching -OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:14275 semapv:UnspecifiedMatching -OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:MRPL1 semapv:UnspecifiedMatching -OMIM:611821 MRPL1 skos:exactMatch ncbigene:65008 semapv:UnspecifiedMatching -OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:14056 semapv:UnspecifiedMatching -OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:MRPL2 semapv:UnspecifiedMatching -OMIM:611822 MRPL2 skos:exactMatch ncbigene:51069 semapv:UnspecifiedMatching -OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:14276 semapv:UnspecifiedMatching -OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:MRPL4 semapv:UnspecifiedMatching -OMIM:611823 MRPL4 skos:exactMatch ncbigene:51073 semapv:UnspecifiedMatching -OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:14277 semapv:UnspecifiedMatching -OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:MRPL9 semapv:UnspecifiedMatching -OMIM:611824 MRPL9 skos:exactMatch ncbigene:65005 semapv:UnspecifiedMatching -OMIM:611825 MRPL10 skos:exactMatch hgnc.symbol:14055 semapv:UnspecifiedMatching -OMIM:611825 MRPL10 skos:exactMatch hgnc.symbol:MRPL10 semapv:UnspecifiedMatching -OMIM:611825 MRPL10 skos:exactMatch ncbigene:124995 semapv:UnspecifiedMatching -OMIM:611826 MRPL11 skos:exactMatch hgnc.symbol:14042 semapv:UnspecifiedMatching -OMIM:611826 MRPL11 skos:exactMatch hgnc.symbol:MRPL11 semapv:UnspecifiedMatching -OMIM:611826 MRPL11 skos:exactMatch ncbigene:65003 semapv:UnspecifiedMatching -OMIM:611827 MRPL14 skos:exactMatch hgnc.symbol:14279 semapv:UnspecifiedMatching -OMIM:611827 MRPL14 skos:exactMatch hgnc.symbol:MRPL14 semapv:UnspecifiedMatching -OMIM:611827 MRPL14 skos:exactMatch ncbigene:64928 semapv:UnspecifiedMatching -OMIM:611828 MRPL15 skos:exactMatch hgnc.symbol:14054 semapv:UnspecifiedMatching -OMIM:611828 MRPL15 skos:exactMatch hgnc.symbol:MRPL15 semapv:UnspecifiedMatching -OMIM:611828 MRPL15 skos:exactMatch ncbigene:29088 semapv:UnspecifiedMatching -OMIM:611829 MRPL16 skos:exactMatch hgnc.symbol:14476 semapv:UnspecifiedMatching -OMIM:611829 MRPL16 skos:exactMatch hgnc.symbol:MRPL16 semapv:UnspecifiedMatching -OMIM:611829 MRPL16 skos:exactMatch ncbigene:54948 semapv:UnspecifiedMatching -OMIM:611830 MRPL17 skos:exactMatch hgnc.symbol:14053 semapv:UnspecifiedMatching -OMIM:611830 MRPL17 skos:exactMatch hgnc.symbol:MRPL17 semapv:UnspecifiedMatching -OMIM:611830 MRPL17 skos:exactMatch ncbigene:63875 semapv:UnspecifiedMatching -OMIM:611831 MRPL18 skos:exactMatch hgnc.symbol:14477 semapv:UnspecifiedMatching -OMIM:611831 MRPL18 skos:exactMatch hgnc.symbol:MRPL18 semapv:UnspecifiedMatching -OMIM:611831 MRPL18 skos:exactMatch ncbigene:29074 semapv:UnspecifiedMatching -OMIM:611832 MRPL19 skos:exactMatch hgnc.symbol:14052 semapv:UnspecifiedMatching -OMIM:611832 MRPL19 skos:exactMatch hgnc.symbol:MRPL19 semapv:UnspecifiedMatching -OMIM:611832 MRPL19 skos:exactMatch ncbigene:9801 semapv:UnspecifiedMatching -OMIM:611833 MRPL20 skos:exactMatch hgnc.symbol:14478 semapv:UnspecifiedMatching -OMIM:611833 MRPL20 skos:exactMatch hgnc.symbol:MRPL20 semapv:UnspecifiedMatching -OMIM:611833 MRPL20 skos:exactMatch ncbigene:55052 semapv:UnspecifiedMatching -OMIM:611834 MRPL21 skos:exactMatch hgnc.symbol:14479 semapv:UnspecifiedMatching -OMIM:611834 MRPL21 skos:exactMatch hgnc.symbol:MRPL21 semapv:UnspecifiedMatching -OMIM:611834 MRPL21 skos:exactMatch ncbigene:219927 semapv:UnspecifiedMatching -OMIM:611835 MRPL22 skos:exactMatch hgnc.symbol:14480 semapv:UnspecifiedMatching -OMIM:611835 MRPL22 skos:exactMatch hgnc.symbol:MRPL22 semapv:UnspecifiedMatching -OMIM:611835 MRPL22 skos:exactMatch ncbigene:29093 semapv:UnspecifiedMatching -OMIM:611836 MRPL24 skos:exactMatch hgnc.symbol:14037 semapv:UnspecifiedMatching -OMIM:611836 MRPL24 skos:exactMatch hgnc.symbol:MRPL24 semapv:UnspecifiedMatching -OMIM:611836 MRPL24 skos:exactMatch ncbigene:79590 semapv:UnspecifiedMatching -OMIM:611837 MRPL27 skos:exactMatch hgnc.symbol:14483 semapv:UnspecifiedMatching -OMIM:611837 MRPL27 skos:exactMatch hgnc.symbol:MRPL27 semapv:UnspecifiedMatching -OMIM:611837 MRPL27 skos:exactMatch ncbigene:51264 semapv:UnspecifiedMatching -OMIM:611838 MRPL30 skos:exactMatch hgnc.symbol:14036 semapv:UnspecifiedMatching -OMIM:611838 MRPL30 skos:exactMatch hgnc.symbol:MRPL30 semapv:UnspecifiedMatching -OMIM:611838 MRPL30 skos:exactMatch ncbigene:51263 semapv:UnspecifiedMatching -OMIM:611839 MRPL32 skos:exactMatch hgnc.symbol:14035 semapv:UnspecifiedMatching -OMIM:611839 MRPL32 skos:exactMatch hgnc.symbol:MRPL32 semapv:UnspecifiedMatching -OMIM:611839 MRPL32 skos:exactMatch ncbigene:64983 semapv:UnspecifiedMatching -OMIM:611840 MRPL34 skos:exactMatch hgnc.symbol:14488 semapv:UnspecifiedMatching -OMIM:611840 MRPL34 skos:exactMatch hgnc.symbol:MRPL34 semapv:UnspecifiedMatching -OMIM:611840 MRPL34 skos:exactMatch ncbigene:64981 semapv:UnspecifiedMatching -OMIM:611841 MRPL35 skos:exactMatch hgnc.symbol:14489 semapv:UnspecifiedMatching -OMIM:611841 MRPL35 skos:exactMatch hgnc.symbol:MRPL35 semapv:UnspecifiedMatching -OMIM:611841 MRPL35 skos:exactMatch ncbigene:51318 semapv:UnspecifiedMatching -OMIM:611842 MRPL36 skos:exactMatch hgnc.symbol:14490 semapv:UnspecifiedMatching -OMIM:611842 MRPL36 skos:exactMatch hgnc.symbol:MRPL36 semapv:UnspecifiedMatching -OMIM:611842 MRPL36 skos:exactMatch ncbigene:64979 semapv:UnspecifiedMatching -OMIM:611843 MRPL37 skos:exactMatch hgnc.symbol:14034 semapv:UnspecifiedMatching -OMIM:611843 MRPL37 skos:exactMatch hgnc.symbol:MRPL37 semapv:UnspecifiedMatching -OMIM:611843 MRPL37 skos:exactMatch ncbigene:51253 semapv:UnspecifiedMatching -OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:14033 semapv:UnspecifiedMatching -OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:MRPL38 semapv:UnspecifiedMatching -OMIM:611844 MRPL38 skos:exactMatch ncbigene:64978 semapv:UnspecifiedMatching -OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:14027 semapv:UnspecifiedMatching -OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:MRPL39 semapv:UnspecifiedMatching -OMIM:611845 MRPL39 skos:exactMatch ncbigene:54148 semapv:UnspecifiedMatching -OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:14492 semapv:UnspecifiedMatching -OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:MRPL41 semapv:UnspecifiedMatching -OMIM:611846 MRPL41 skos:exactMatch ncbigene:64975 semapv:UnspecifiedMatching -OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:14493 semapv:UnspecifiedMatching -OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:MRPL42 semapv:UnspecifiedMatching -OMIM:611847 MRPL42 skos:exactMatch ncbigene:28977 semapv:UnspecifiedMatching -OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:14517 semapv:UnspecifiedMatching -OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:MRPL43 semapv:UnspecifiedMatching -OMIM:611848 MRPL43 skos:exactMatch ncbigene:84545 semapv:UnspecifiedMatching -OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:16650 semapv:UnspecifiedMatching -OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:MRPL44 semapv:UnspecifiedMatching -OMIM:611849 MRPL44 skos:exactMatch ncbigene:65080 semapv:UnspecifiedMatching -OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:16651 semapv:UnspecifiedMatching -OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:MRPL45 semapv:UnspecifiedMatching -OMIM:611850 MRPL45 skos:exactMatch ncbigene:84311 semapv:UnspecifiedMatching -OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:1192 semapv:UnspecifiedMatching -OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:MRPL46 semapv:UnspecifiedMatching -OMIM:611851 MRPL46 skos:exactMatch ncbigene:26589 semapv:UnspecifiedMatching -OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:16652 semapv:UnspecifiedMatching -OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:MRPL47 semapv:UnspecifiedMatching -OMIM:611852 MRPL47 skos:exactMatch ncbigene:57129 semapv:UnspecifiedMatching -OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:16653 semapv:UnspecifiedMatching -OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:MRPL48 semapv:UnspecifiedMatching -OMIM:611853 MRPL48 skos:exactMatch ncbigene:51642 semapv:UnspecifiedMatching -OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:16654 semapv:UnspecifiedMatching -OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:MRPL50 semapv:UnspecifiedMatching -OMIM:611854 MRPL50 skos:exactMatch ncbigene:54534 semapv:UnspecifiedMatching -OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:14044 semapv:UnspecifiedMatching -OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:MRPL51 semapv:UnspecifiedMatching -OMIM:611855 MRPL51 skos:exactMatch ncbigene:51258 semapv:UnspecifiedMatching -OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:16655 semapv:UnspecifiedMatching -OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:MRPL52 semapv:UnspecifiedMatching -OMIM:611856 MRPL52 skos:exactMatch ncbigene:122704 semapv:UnspecifiedMatching -OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:16684 semapv:UnspecifiedMatching -OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:MRPL53 semapv:UnspecifiedMatching -OMIM:611857 MRPL53 skos:exactMatch ncbigene:116540 semapv:UnspecifiedMatching -OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:16685 semapv:UnspecifiedMatching -OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:MRPL54 semapv:UnspecifiedMatching -OMIM:611858 MRPL54 skos:exactMatch ncbigene:116541 semapv:UnspecifiedMatching -OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:16686 semapv:UnspecifiedMatching -OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:MRPL55 semapv:UnspecifiedMatching -OMIM:611859 MRPL55 skos:exactMatch ncbigene:128308 semapv:UnspecifiedMatching -OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:25250 semapv:UnspecifiedMatching -OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:ADPGK semapv:UnspecifiedMatching -OMIM:611861 ADPGK skos:exactMatch ncbigene:83440 semapv:UnspecifiedMatching -OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:21706 semapv:UnspecifiedMatching -OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:ARMC10 semapv:UnspecifiedMatching -OMIM:611864 ARMC10 skos:exactMatch ncbigene:83787 semapv:UnspecifiedMatching -OMIM:611865 L3MBTL2 skos:exactMatch UMLS:C1425632 semapv:UnspecifiedMatching -OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:18594 semapv:UnspecifiedMatching -OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:L3MBTL2 semapv:UnspecifiedMatching -OMIM:611865 L3MBTL2 skos:exactMatch ncbigene:83746 semapv:UnspecifiedMatching -OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:15847 semapv:UnspecifiedMatching -OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:RBP5 semapv:UnspecifiedMatching -OMIM:611866 RBP5 skos:exactMatch ncbigene:83758 semapv:UnspecifiedMatching -OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 semapv:UnspecifiedMatching -OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch UMLS:C2678480 semapv:UnspecifiedMatching -OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:24817 semapv:UnspecifiedMatching -OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:RABEP2 semapv:UnspecifiedMatching -OMIM:611869 RABEP2 skos:exactMatch ncbigene:79874 semapv:UnspecifiedMatching -OMIM:611870 CNTLN skos:exactMatch hgnc.symbol:23432 semapv:UnspecifiedMatching -OMIM:611870 CNTLN skos:exactMatch hgnc.symbol:CNTLN semapv:UnspecifiedMatching -OMIM:611870 CNTLN skos:exactMatch ncbigene:54875 semapv:UnspecifiedMatching -OMIM:611871 RMDN1 skos:exactMatch hgnc.symbol:24285 semapv:UnspecifiedMatching -OMIM:611871 RMDN1 skos:exactMatch hgnc.symbol:RMDN1 semapv:UnspecifiedMatching -OMIM:611871 RMDN1 skos:exactMatch ncbigene:51115 semapv:UnspecifiedMatching -OMIM:611872 RMDN2 skos:exactMatch hgnc.symbol:26567 semapv:UnspecifiedMatching -OMIM:611872 RMDN2 skos:exactMatch hgnc.symbol:RMDN2 semapv:UnspecifiedMatching -OMIM:611872 RMDN2 skos:exactMatch ncbigene:151393 semapv:UnspecifiedMatching -OMIM:611873 RMDN3 skos:exactMatch hgnc.symbol:25550 semapv:UnspecifiedMatching -OMIM:611873 RMDN3 skos:exactMatch hgnc.symbol:RMDN3 semapv:UnspecifiedMatching -OMIM:611873 RMDN3 skos:exactMatch ncbigene:55177 semapv:UnspecifiedMatching -OMIM:611874 NENF skos:exactMatch hgnc.symbol:30384 semapv:UnspecifiedMatching -OMIM:611874 NENF skos:exactMatch hgnc.symbol:NENF semapv:UnspecifiedMatching -OMIM:611874 NENF skos:exactMatch ncbigene:29937 semapv:UnspecifiedMatching -OMIM:611877 BAIAP2L1 skos:exactMatch hgnc.symbol:21649 semapv:UnspecifiedMatching -OMIM:611877 BAIAP2L1 skos:exactMatch hgnc.symbol:BAIAP2L1 semapv:UnspecifiedMatching -OMIM:611877 BAIAP2L1 skos:exactMatch ncbigene:55971 semapv:UnspecifiedMatching -OMIM:611882 PNRC2 skos:exactMatch hgnc.symbol:23158 semapv:UnspecifiedMatching -OMIM:611882 PNRC2 skos:exactMatch hgnc.symbol:PNRC2 semapv:UnspecifiedMatching -OMIM:611882 PNRC2 skos:exactMatch ncbigene:55629 semapv:UnspecifiedMatching -OMIM:611883 BCCIP skos:exactMatch hgnc.symbol:978 semapv:UnspecifiedMatching -OMIM:611883 BCCIP skos:exactMatch hgnc.symbol:BCCIP semapv:UnspecifiedMatching -OMIM:611883 BCCIP skos:exactMatch ncbigene:56647 semapv:UnspecifiedMatching -OMIM:611885 SHARPIN skos:exactMatch hgnc.symbol:25321 semapv:UnspecifiedMatching -OMIM:611885 SHARPIN skos:exactMatch hgnc.symbol:SHARPIN semapv:UnspecifiedMatching -OMIM:611885 SHARPIN skos:exactMatch ncbigene:81858 semapv:UnspecifiedMatching -OMIM:611887 UPK3B skos:exactMatch hgnc.symbol:21444 semapv:UnspecifiedMatching -OMIM:611887 UPK3B skos:exactMatch hgnc.symbol:UPK3B semapv:UnspecifiedMatching -OMIM:611887 UPK3B skos:exactMatch ncbigene:105375355 semapv:UnspecifiedMatching -OMIM:611888 ERF skos:exactMatch hgnc.symbol:3444 semapv:UnspecifiedMatching -OMIM:611888 ERF skos:exactMatch hgnc.symbol:ERF semapv:UnspecifiedMatching -OMIM:611888 ERF skos:exactMatch ncbigene:2077 semapv:UnspecifiedMatching -OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:25768 semapv:UnspecifiedMatching -OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:S100PBP semapv:UnspecifiedMatching -OMIM:611889 S100PBP skos:exactMatch ncbigene:64766 semapv:UnspecifiedMatching -OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:29515 semapv:UnspecifiedMatching -OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:PLEKHG2 semapv:UnspecifiedMatching -OMIM:611893 PLEKHG2 skos:exactMatch ncbigene:64857 semapv:UnspecifiedMatching -OMIM:611894 MIR140 skos:exactMatch hgnc.symbol:31527 semapv:UnspecifiedMatching -OMIM:611894 MIR140 skos:exactMatch hgnc.symbol:MIR140 semapv:UnspecifiedMatching -OMIM:611894 MIR140 skos:exactMatch ncbigene:406932 semapv:UnspecifiedMatching -OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:14665 semapv:UnspecifiedMatching -OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:RTL1 semapv:UnspecifiedMatching -OMIM:611896 RTL1 skos:exactMatch ncbigene:388015 semapv:UnspecifiedMatching -OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:24622 semapv:UnspecifiedMatching -OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:ENGASE semapv:UnspecifiedMatching -OMIM:611898 ENGASE skos:exactMatch ncbigene:64772 semapv:UnspecifiedMatching -OMIM:611899 MIR203A skos:exactMatch hgnc.symbol:31581 semapv:UnspecifiedMatching -OMIM:611899 MIR203A skos:exactMatch hgnc.symbol:MIR203A semapv:UnspecifiedMatching -OMIM:611899 MIR203A skos:exactMatch ncbigene:406986 semapv:UnspecifiedMatching -OMIM:611900 MPPE1 skos:exactMatch hgnc.symbol:15988 semapv:UnspecifiedMatching -OMIM:611900 MPPE1 skos:exactMatch hgnc.symbol:MPPE1 semapv:UnspecifiedMatching -OMIM:611900 MPPE1 skos:exactMatch ncbigene:65258 semapv:UnspecifiedMatching -OMIM:611901 VWA1 skos:exactMatch hgnc.symbol:30910 semapv:UnspecifiedMatching -OMIM:611901 VWA1 skos:exactMatch hgnc.symbol:VWA1 semapv:UnspecifiedMatching -OMIM:611901 VWA1 skos:exactMatch ncbigene:64856 semapv:UnspecifiedMatching -OMIM:611902 CCDC136 skos:exactMatch hgnc.symbol:22225 semapv:UnspecifiedMatching -OMIM:611902 CCDC136 skos:exactMatch hgnc.symbol:CCDC136 semapv:UnspecifiedMatching -OMIM:611902 CCDC136 skos:exactMatch ncbigene:64753 semapv:UnspecifiedMatching -OMIM:611903 ZNF649 skos:exactMatch hgnc.symbol:25741 semapv:UnspecifiedMatching -OMIM:611903 ZNF649 skos:exactMatch hgnc.symbol:ZNF649 semapv:UnspecifiedMatching -OMIM:611903 ZNF649 skos:exactMatch ncbigene:65251 semapv:UnspecifiedMatching -OMIM:611904 PLET1 skos:exactMatch hgnc.symbol:30053 semapv:UnspecifiedMatching -OMIM:611904 PLET1 skos:exactMatch hgnc.symbol:PLET1 semapv:UnspecifiedMatching -OMIM:611904 PLET1 skos:exactMatch ncbigene:349633 semapv:UnspecifiedMatching -OMIM:611905 FNDC4 skos:exactMatch hgnc.symbol:20239 semapv:UnspecifiedMatching -OMIM:611905 FNDC4 skos:exactMatch hgnc.symbol:FNDC4 semapv:UnspecifiedMatching -OMIM:611905 FNDC4 skos:exactMatch ncbigene:64838 semapv:UnspecifiedMatching -OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:20240 semapv:UnspecifiedMatching -OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:FNDC5 semapv:UnspecifiedMatching -OMIM:611906 FNDC5 skos:exactMatch ncbigene:252995 semapv:UnspecifiedMatching -OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:30220 semapv:UnspecifiedMatching -OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:RFT1 semapv:UnspecifiedMatching -OMIM:611908 RFT1 skos:exactMatch ncbigene:91869 semapv:UnspecifiedMatching -OMIM:611909 FNDC3B skos:exactMatch hgnc.symbol:24670 semapv:UnspecifiedMatching -OMIM:611909 FNDC3B skos:exactMatch hgnc.symbol:FNDC3B semapv:UnspecifiedMatching -OMIM:611909 FNDC3B skos:exactMatch ncbigene:64778 semapv:UnspecifiedMatching -OMIM:611910 SLC16A12 skos:exactMatch UMLS:C1427911 semapv:UnspecifiedMatching -OMIM:611910 SLC16A12 skos:exactMatch UMLS:C4310859 semapv:UnspecifiedMatching -OMIM:611910 SLC16A12 skos:exactMatch hgnc.symbol:23094 semapv:UnspecifiedMatching -OMIM:611910 SLC16A12 skos:exactMatch hgnc.symbol:SLC16A12 semapv:UnspecifiedMatching -OMIM:611910 SLC16A12 skos:exactMatch ncbigene:387700 semapv:UnspecifiedMatching -OMIM:611911 ISCU skos:exactMatch hgnc.symbol:29882 semapv:UnspecifiedMatching -OMIM:611911 ISCU skos:exactMatch hgnc.symbol:ISCU semapv:UnspecifiedMatching -OMIM:611911 ISCU skos:exactMatch ncbigene:23479 semapv:UnspecifiedMatching -OMIM:611912 NUCKS1 skos:exactMatch hgnc.symbol:29923 semapv:UnspecifiedMatching -OMIM:611912 NUCKS1 skos:exactMatch hgnc.symbol:NUCKS1 semapv:UnspecifiedMatching -OMIM:611912 NUCKS1 skos:exactMatch ncbigene:64710 semapv:UnspecifiedMatching -OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch Orphanet:261197 semapv:UnspecifiedMatching -OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching -OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3552491 semapv:UnspecifiedMatching -OMIM:611914 TSC22D4 skos:exactMatch hgnc.symbol:21696 semapv:UnspecifiedMatching -OMIM:611914 TSC22D4 skos:exactMatch hgnc.symbol:TSC22D4 semapv:UnspecifiedMatching -OMIM:611914 TSC22D4 skos:exactMatch ncbigene:81628 semapv:UnspecifiedMatching -OMIM:611915 VOPP1 skos:exactMatch hgnc.symbol:34518 semapv:UnspecifiedMatching -OMIM:611915 VOPP1 skos:exactMatch hgnc.symbol:VOPP1 semapv:UnspecifiedMatching -OMIM:611915 VOPP1 skos:exactMatch ncbigene:81552 semapv:UnspecifiedMatching -OMIM:611916 COL6A5 skos:exactMatch UMLS:C2239306 semapv:UnspecifiedMatching -OMIM:611916 COL6A5 skos:exactMatch UMLS:C5394585 semapv:UnspecifiedMatching -OMIM:611916 COL6A5 skos:exactMatch hgnc.symbol:26674 semapv:UnspecifiedMatching -OMIM:611916 COL6A5 skos:exactMatch hgnc.symbol:COL6A5 semapv:UnspecifiedMatching -OMIM:611916 COL6A5 skos:exactMatch ncbigene:256076 semapv:UnspecifiedMatching -OMIM:611917 KDM8 skos:exactMatch hgnc.symbol:25840 semapv:UnspecifiedMatching -OMIM:611917 KDM8 skos:exactMatch hgnc.symbol:KDM8 semapv:UnspecifiedMatching -OMIM:611917 KDM8 skos:exactMatch ncbigene:79831 semapv:UnspecifiedMatching -OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:20968 semapv:UnspecifiedMatching -OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:RIOX1 semapv:UnspecifiedMatching -OMIM:611919 RIOX1 skos:exactMatch ncbigene:79697 semapv:UnspecifiedMatching -OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:16690 semapv:UnspecifiedMatching -OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:GJB7 semapv:UnspecifiedMatching -OMIM:611921 GJB7 skos:exactMatch ncbigene:375519 semapv:UnspecifiedMatching -OMIM:611922 GJD4 skos:exactMatch hgnc.symbol:23296 semapv:UnspecifiedMatching -OMIM:611922 GJD4 skos:exactMatch hgnc.symbol:GJD4 semapv:UnspecifiedMatching -OMIM:611922 GJD4 skos:exactMatch ncbigene:219770 semapv:UnspecifiedMatching -OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:19155 semapv:UnspecifiedMatching -OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:GJA9 semapv:UnspecifiedMatching -OMIM:611923 GJA9 skos:exactMatch ncbigene:81025 semapv:UnspecifiedMatching -OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:16995 semapv:UnspecifiedMatching -OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:GJA10 semapv:UnspecifiedMatching -OMIM:611924 GJA10 skos:exactMatch ncbigene:84694 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch UMLS:C2677835 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:17495 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:GJC3 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch ncbigene:349149 semapv:UnspecifiedMatching -OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:24797 semapv:UnspecifiedMatching -OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:FAM83H semapv:UnspecifiedMatching -OMIM:611927 FAM83H skos:exactMatch ncbigene:286077 semapv:UnspecifiedMatching -OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:25745 semapv:UnspecifiedMatching -OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:ISG20L2 semapv:UnspecifiedMatching -OMIM:611930 ISG20L2 skos:exactMatch ncbigene:81875 semapv:UnspecifiedMatching -OMIM:611931 PPM1L skos:exactMatch hgnc.symbol:16381 semapv:UnspecifiedMatching -OMIM:611931 PPM1L skos:exactMatch hgnc.symbol:PPM1L semapv:UnspecifiedMatching -OMIM:611931 PPM1L skos:exactMatch ncbigene:151742 semapv:UnspecifiedMatching -OMIM:611932 CISD1 skos:exactMatch hgnc.symbol:30880 semapv:UnspecifiedMatching -OMIM:611932 CISD1 skos:exactMatch hgnc.symbol:CISD1 semapv:UnspecifiedMatching -OMIM:611932 CISD1 skos:exactMatch ncbigene:55847 semapv:UnspecifiedMatching -OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:27578 semapv:UnspecifiedMatching -OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:CISD3 semapv:UnspecifiedMatching -OMIM:611933 CISD3 skos:exactMatch ncbigene:284106 semapv:UnspecifiedMatching -OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:25221 semapv:UnspecifiedMatching -OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:MMADHC semapv:UnspecifiedMatching -OMIM:611935 MMADHC skos:exactMatch ncbigene:27249 semapv:UnspecifiedMatching -OMIM:611937 IGHD3-3 skos:exactMatch hgnc.symbol:5498 semapv:UnspecifiedMatching -OMIM:611937 IGHD3-3 skos:exactMatch hgnc.symbol:IGHD3-3 semapv:UnspecifiedMatching -OMIM:611937 IGHD3-3 skos:exactMatch ncbigene:28501 semapv:UnspecifiedMatching -OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:5588 semapv:UnspecifiedMatching -OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:IGHV3-23 semapv:UnspecifiedMatching -OMIM:611939 IGHV3-23 skos:exactMatch ncbigene:28442 semapv:UnspecifiedMatching -OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:32311 semapv:UnspecifiedMatching -OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:MBOAT4 semapv:UnspecifiedMatching -OMIM:611940 MBOAT4 skos:exactMatch ncbigene:619373 semapv:UnspecifiedMatching -OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:30123 semapv:UnspecifiedMatching -OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:ATAD2 semapv:UnspecifiedMatching -OMIM:611941 ATAD2 skos:exactMatch ncbigene:29028 semapv:UnspecifiedMatching -OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:14928 semapv:UnspecifiedMatching -OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:UBXN6 semapv:UnspecifiedMatching -OMIM:611946 UBXN6 skos:exactMatch ncbigene:80700 semapv:UnspecifiedMatching -OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:29890 semapv:UnspecifiedMatching -OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:NLRX1 semapv:UnspecifiedMatching -OMIM:611947 NLRX1 skos:exactMatch ncbigene:79671 semapv:UnspecifiedMatching -OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:25193 semapv:UnspecifiedMatching -OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:MBOAT2 semapv:UnspecifiedMatching -OMIM:611949 MBOAT2 skos:exactMatch ncbigene:129642 semapv:UnspecifiedMatching -OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:30244 semapv:UnspecifiedMatching -OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:LPCAT3 semapv:UnspecifiedMatching -OMIM:611950 LPCAT3 skos:exactMatch ncbigene:10162 semapv:UnspecifiedMatching -OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:28636 semapv:UnspecifiedMatching -OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:B9D2 semapv:UnspecifiedMatching -OMIM:611951 B9D2 skos:exactMatch ncbigene:80776 semapv:UnspecifiedMatching -OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:18178 semapv:UnspecifiedMatching -OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:VPS28 semapv:UnspecifiedMatching -OMIM:611952 VPS28 skos:exactMatch ncbigene:51160 semapv:UnspecifiedMatching -OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:31787 semapv:UnspecifiedMatching -OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:MIR373 semapv:UnspecifiedMatching -OMIM:611954 MIR373 skos:exactMatch ncbigene:442918 semapv:UnspecifiedMatching -OMIM:611956 C3ORF52 skos:exactMatch hgnc.symbol:26255 semapv:UnspecifiedMatching -OMIM:611956 C3ORF52 skos:exactMatch hgnc.symbol:C3orf52 semapv:UnspecifiedMatching -OMIM:611956 C3ORF52 skos:exactMatch ncbigene:79669 semapv:UnspecifiedMatching -OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:31871 semapv:UnspecifiedMatching -OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:MIR378A semapv:UnspecifiedMatching -OMIM:611957 MIRN378 skos:exactMatch ncbigene:494327 semapv:UnspecifiedMatching -OMIM:611962 hunter-macdonald syndrome skos:exactMatch UMLS:C2677745 semapv:UnspecifiedMatching -OMIM:611963 acyl-coa thioesterase 7-like skos:exactMatch ncbigene:344967 semapv:UnspecifiedMatching -OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:24374 semapv:UnspecifiedMatching -OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:CYB5B semapv:UnspecifiedMatching -OMIM:611964 CYB5B skos:exactMatch ncbigene:80777 semapv:UnspecifiedMatching -OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:29874 semapv:UnspecifiedMatching -OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:THOC7 semapv:UnspecifiedMatching -OMIM:611965 THOC7 skos:exactMatch ncbigene:80145 semapv:UnspecifiedMatching -OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:30832 semapv:UnspecifiedMatching -OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:TRAPPC9 semapv:UnspecifiedMatching -OMIM:611966 TRAPPC9 skos:exactMatch ncbigene:83696 semapv:UnspecifiedMatching -OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:18644 semapv:UnspecifiedMatching -OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:KLHL8 semapv:UnspecifiedMatching -OMIM:611967 KLHL8 skos:exactMatch ncbigene:57563 semapv:UnspecifiedMatching -OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:17086 semapv:UnspecifiedMatching -OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:CSTF2T semapv:UnspecifiedMatching -OMIM:611968 CSTF2T skos:exactMatch ncbigene:23283 semapv:UnspecifiedMatching -OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:24904 semapv:UnspecifiedMatching -OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:MOB2 semapv:UnspecifiedMatching -OMIM:611969 MOB2 skos:exactMatch ncbigene:81532 semapv:UnspecifiedMatching -OMIM:611970 NIFK skos:exactMatch hgnc.symbol:17838 semapv:UnspecifiedMatching -OMIM:611970 NIFK skos:exactMatch hgnc.symbol:NIFK semapv:UnspecifiedMatching -OMIM:611970 NIFK skos:exactMatch ncbigene:84365 semapv:UnspecifiedMatching -OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:14495 semapv:UnspecifiedMatching -OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:MRPS2 semapv:UnspecifiedMatching -OMIM:611971 MRPS2 skos:exactMatch ncbigene:51116 semapv:UnspecifiedMatching -OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:14498 semapv:UnspecifiedMatching -OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:MRPS5 semapv:UnspecifiedMatching -OMIM:611972 MRPS5 skos:exactMatch ncbigene:64969 semapv:UnspecifiedMatching -OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:14051 semapv:UnspecifiedMatching -OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:MRPS6 semapv:UnspecifiedMatching -OMIM:611973 MRPS6 skos:exactMatch ncbigene:64968 semapv:UnspecifiedMatching -OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:14499 semapv:UnspecifiedMatching -OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:MRPS7 semapv:UnspecifiedMatching -OMIM:611974 MRPS7 skos:exactMatch ncbigene:51081 semapv:UnspecifiedMatching -OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:14501 semapv:UnspecifiedMatching -OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:MRPS9 semapv:UnspecifiedMatching -OMIM:611975 MRPS9 skos:exactMatch ncbigene:64965 semapv:UnspecifiedMatching -OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:14502 semapv:UnspecifiedMatching -OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:MRPS10 semapv:UnspecifiedMatching -OMIM:611976 MRPS10 skos:exactMatch ncbigene:55173 semapv:UnspecifiedMatching -OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:14050 semapv:UnspecifiedMatching -OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:MRPS11 semapv:UnspecifiedMatching -OMIM:611977 MRPS11 skos:exactMatch ncbigene:64963 semapv:UnspecifiedMatching -OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:14049 semapv:UnspecifiedMatching -OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:MRPS14 semapv:UnspecifiedMatching -OMIM:611978 MRPS14 skos:exactMatch ncbigene:63931 semapv:UnspecifiedMatching -OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:14504 semapv:UnspecifiedMatching -OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:MRPS15 semapv:UnspecifiedMatching -OMIM:611979 MRPS15 skos:exactMatch ncbigene:64960 semapv:UnspecifiedMatching -OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:14047 semapv:UnspecifiedMatching -OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:MRPS17 semapv:UnspecifiedMatching -OMIM:611980 MRPS17 skos:exactMatch ncbigene:51373 semapv:UnspecifiedMatching -OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:14515 semapv:UnspecifiedMatching -OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:MRPS18A semapv:UnspecifiedMatching -OMIM:611981 MRPS18A skos:exactMatch ncbigene:55168 semapv:UnspecifiedMatching -OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:14516 semapv:UnspecifiedMatching -OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:MRPS18B semapv:UnspecifiedMatching -OMIM:611982 MRPS18B skos:exactMatch ncbigene:28973 semapv:UnspecifiedMatching -OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:16633 semapv:UnspecifiedMatching -OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:MRPS18C semapv:UnspecifiedMatching -OMIM:611983 MRPS18C skos:exactMatch ncbigene:51023 semapv:UnspecifiedMatching -OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:14046 semapv:UnspecifiedMatching -OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:MRPS21 semapv:UnspecifiedMatching -OMIM:611984 MRPS21 skos:exactMatch ncbigene:54460 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch UMLS:C1422714 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:14509 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:MRPS23 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch ncbigene:51649 semapv:UnspecifiedMatching -OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:14510 semapv:UnspecifiedMatching -OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:MRPS24 semapv:UnspecifiedMatching -OMIM:611986 MRPS24 skos:exactMatch ncbigene:64951 semapv:UnspecifiedMatching -OMIM:611987 MRPS25 skos:exactMatch UMLS:C1422716 semapv:UnspecifiedMatching -OMIM:611987 MRPS25 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching -OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:14511 semapv:UnspecifiedMatching -OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:MRPS25 semapv:UnspecifiedMatching -OMIM:611987 MRPS25 skos:exactMatch ncbigene:64432 semapv:UnspecifiedMatching -OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:14045 semapv:UnspecifiedMatching -OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:MRPS26 semapv:UnspecifiedMatching -OMIM:611988 MRPS26 skos:exactMatch ncbigene:64949 semapv:UnspecifiedMatching -OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:14512 semapv:UnspecifiedMatching -OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:MRPS27 semapv:UnspecifiedMatching -OMIM:611989 MRPS27 skos:exactMatch ncbigene:23107 semapv:UnspecifiedMatching -OMIM:611990 MRPS28 skos:exactMatch UMLS:C1422718 semapv:UnspecifiedMatching -OMIM:611990 MRPS28 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching -OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:14513 semapv:UnspecifiedMatching -OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:MRPS28 semapv:UnspecifiedMatching -OMIM:611990 MRPS28 skos:exactMatch ncbigene:28957 semapv:UnspecifiedMatching -OMIM:611991 MRPS30 skos:exactMatch hgnc.symbol:8769 semapv:UnspecifiedMatching -OMIM:611991 MRPS30 skos:exactMatch hgnc.symbol:MRPS30 semapv:UnspecifiedMatching -OMIM:611991 MRPS30 skos:exactMatch ncbigene:10884 semapv:UnspecifiedMatching -OMIM:611992 MRPS31 skos:exactMatch hgnc.symbol:16632 semapv:UnspecifiedMatching -OMIM:611992 MRPS31 skos:exactMatch hgnc.symbol:MRPS31 semapv:UnspecifiedMatching -OMIM:611992 MRPS31 skos:exactMatch ncbigene:10240 semapv:UnspecifiedMatching -OMIM:611993 MRPS33 skos:exactMatch hgnc.symbol:16634 semapv:UnspecifiedMatching -OMIM:611993 MRPS33 skos:exactMatch hgnc.symbol:MRPS33 semapv:UnspecifiedMatching -OMIM:611993 MRPS33 skos:exactMatch ncbigene:51650 semapv:UnspecifiedMatching -OMIM:611994 MRPS34 skos:exactMatch hgnc.symbol:16618 semapv:UnspecifiedMatching -OMIM:611994 MRPS34 skos:exactMatch hgnc.symbol:MRPS34 semapv:UnspecifiedMatching -OMIM:611994 MRPS34 skos:exactMatch ncbigene:65993 semapv:UnspecifiedMatching -OMIM:611995 MRPS35 skos:exactMatch hgnc.symbol:16635 semapv:UnspecifiedMatching -OMIM:611995 MRPS35 skos:exactMatch hgnc.symbol:MRPS35 semapv:UnspecifiedMatching -OMIM:611995 MRPS35 skos:exactMatch ncbigene:60488 semapv:UnspecifiedMatching -OMIM:611996 MRPS36 skos:exactMatch hgnc.symbol:KGD4 semapv:UnspecifiedMatching -OMIM:611996 MRPS36 skos:exactMatch ncbigene:92259 semapv:UnspecifiedMatching -OMIM:611997 MRP63 skos:exactMatch hgnc.symbol:14514 semapv:UnspecifiedMatching -OMIM:611997 MRP63 skos:exactMatch hgnc.symbol:MRPL57 semapv:UnspecifiedMatching -OMIM:611997 MRP63 skos:exactMatch ncbigene:78988 semapv:UnspecifiedMatching -OMIM:611998 CREB3L3 skos:exactMatch hgnc.symbol:18855 semapv:UnspecifiedMatching -OMIM:611998 CREB3L3 skos:exactMatch hgnc.symbol:CREB3L3 semapv:UnspecifiedMatching -OMIM:611998 CREB3L3 skos:exactMatch ncbigene:84699 semapv:UnspecifiedMatching -OMIM:611999 RAB11FIP4 skos:exactMatch hgnc.symbol:30267 semapv:UnspecifiedMatching -OMIM:611999 RAB11FIP4 skos:exactMatch hgnc.symbol:RAB11FIP4 semapv:UnspecifiedMatching -OMIM:611999 RAB11FIP4 skos:exactMatch ncbigene:84440 semapv:UnspecifiedMatching -OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:29005 semapv:UnspecifiedMatching -OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:TRIM66 semapv:UnspecifiedMatching -OMIM:612000 TRIM66 skos:exactMatch ncbigene:9866 semapv:UnspecifiedMatching -OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch Orphanet:199318 semapv:UnspecifiedMatching -OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch UMLS:C2677613 semapv:UnspecifiedMatching -OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:22949 semapv:UnspecifiedMatching -OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:DEPDC1 semapv:UnspecifiedMatching -OMIM:612002 DEPDC1 skos:exactMatch ncbigene:55635 semapv:UnspecifiedMatching -OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:11960 semapv:UnspecifiedMatching -OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:GIGYF2 semapv:UnspecifiedMatching -OMIM:612003 GIGYF2 skos:exactMatch ncbigene:26058 semapv:UnspecifiedMatching -OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:20761 semapv:UnspecifiedMatching -OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:ZFYVE26 semapv:UnspecifiedMatching -OMIM:612012 ZFYVE26 skos:exactMatch ncbigene:23503 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch UMLS:C2240338 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676790 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch UMLS:C3280898 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch hgnc.symbol:29253 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch hgnc.symbol:CC2D2A semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch ncbigene:57545 semapv:UnspecifiedMatching -OMIM:612014 TTC21B skos:exactMatch hgnc.symbol:25660 semapv:UnspecifiedMatching -OMIM:612014 TTC21B skos:exactMatch hgnc.symbol:TTC21B semapv:UnspecifiedMatching -OMIM:612014 TTC21B skos:exactMatch ncbigene:79809 semapv:UnspecifiedMatching -OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching -OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching -OMIM:612019 ISX skos:exactMatch hgnc.symbol:28084 semapv:UnspecifiedMatching -OMIM:612019 ISX skos:exactMatch hgnc.symbol:ISX semapv:UnspecifiedMatching -OMIM:612019 ISX skos:exactMatch ncbigene:91464 semapv:UnspecifiedMatching -OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:24281 semapv:UnspecifiedMatching -OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:OTUD6B semapv:UnspecifiedMatching -OMIM:612021 OTUD6B skos:exactMatch ncbigene:51633 semapv:UnspecifiedMatching -OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:27346 semapv:UnspecifiedMatching -OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:OTUD1 semapv:UnspecifiedMatching -OMIM:612022 OTUD1 skos:exactMatch ncbigene:220213 semapv:UnspecifiedMatching -OMIM:612023 YOD1 skos:exactMatch UMLS:C1823894 semapv:UnspecifiedMatching -OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:25035 semapv:UnspecifiedMatching -OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:YOD1 semapv:UnspecifiedMatching -OMIM:612023 YOD1 skos:exactMatch ncbigene:55432 semapv:UnspecifiedMatching -OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:20718 semapv:UnspecifiedMatching -OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:OTUD7A semapv:UnspecifiedMatching -OMIM:612024 OTUD7A skos:exactMatch ncbigene:161725 semapv:UnspecifiedMatching -OMIM:612025 IYD skos:exactMatch hgnc.symbol:21071 semapv:UnspecifiedMatching -OMIM:612025 IYD skos:exactMatch hgnc.symbol:IYD semapv:UnspecifiedMatching -OMIM:612025 IYD skos:exactMatch ncbigene:389434 semapv:UnspecifiedMatching -OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:24912 semapv:UnspecifiedMatching -OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:LARP7 semapv:UnspecifiedMatching -OMIM:612026 LARP7 skos:exactMatch ncbigene:51574 semapv:UnspecifiedMatching -OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:18707 semapv:UnspecifiedMatching -OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:TAMALIN semapv:UnspecifiedMatching -OMIM:612027 TAMALIN skos:exactMatch ncbigene:160622 semapv:UnspecifiedMatching -OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:33714 semapv:UnspecifiedMatching -OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:FITM1 semapv:UnspecifiedMatching -OMIM:612028 FITM1 skos:exactMatch ncbigene:161247 semapv:UnspecifiedMatching -OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:16135 semapv:UnspecifiedMatching -OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:FITM2 semapv:UnspecifiedMatching -OMIM:612029 FITM2 skos:exactMatch ncbigene:128486 semapv:UnspecifiedMatching -OMIM:612031 INHBE skos:exactMatch hgnc.symbol:24029 semapv:UnspecifiedMatching -OMIM:612031 INHBE skos:exactMatch hgnc.symbol:INHBE semapv:UnspecifiedMatching -OMIM:612031 INHBE skos:exactMatch ncbigene:83729 semapv:UnspecifiedMatching -OMIM:612032 DPY30 skos:exactMatch UMLS:C2239360 semapv:UnspecifiedMatching -OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:24590 semapv:UnspecifiedMatching -OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:DPY30 semapv:UnspecifiedMatching -OMIM:612032 DPY30 skos:exactMatch ncbigene:84661 semapv:UnspecifiedMatching -OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:28707 semapv:UnspecifiedMatching -OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:PAGR1 semapv:UnspecifiedMatching -OMIM:612033 PAGR1 skos:exactMatch ncbigene:79447 semapv:UnspecifiedMatching -OMIM:612034 APC2 skos:exactMatch hgnc.symbol:24036 semapv:UnspecifiedMatching -OMIM:612034 APC2 skos:exactMatch hgnc.symbol:APC2 semapv:UnspecifiedMatching -OMIM:612034 APC2 skos:exactMatch ncbigene:10297 semapv:UnspecifiedMatching -OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:21022 semapv:UnspecifiedMatching -OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:AARS2 semapv:UnspecifiedMatching -OMIM:612035 AARS2 skos:exactMatch ncbigene:57505 semapv:UnspecifiedMatching -OMIM:612036 PARS2 skos:exactMatch UMLS:C1826544 semapv:UnspecifiedMatching -OMIM:612036 PARS2 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching -OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:30563 semapv:UnspecifiedMatching -OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:PARS2 semapv:UnspecifiedMatching -OMIM:612036 PARS2 skos:exactMatch ncbigene:25973 semapv:UnspecifiedMatching -OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:25762 semapv:UnspecifiedMatching -OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:MUL1 semapv:UnspecifiedMatching -OMIM:612037 MUL1 skos:exactMatch ncbigene:79594 semapv:UnspecifiedMatching -OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:22301 semapv:UnspecifiedMatching -OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:TMED4 semapv:UnspecifiedMatching -OMIM:612038 TMED4 skos:exactMatch ncbigene:222068 semapv:UnspecifiedMatching -OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:30059 semapv:UnspecifiedMatching -OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:LPCAT4 semapv:UnspecifiedMatching -OMIM:612039 AGPAT7 skos:exactMatch ncbigene:254531 semapv:UnspecifiedMatching -OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:26032 semapv:UnspecifiedMatching -OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:LPCAT2 semapv:UnspecifiedMatching -OMIM:612040 LPCAT2 skos:exactMatch ncbigene:54947 semapv:UnspecifiedMatching -OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:27729 semapv:UnspecifiedMatching -OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:RNF212 semapv:UnspecifiedMatching -OMIM:612041 RNF212 skos:exactMatch ncbigene:285498 semapv:UnspecifiedMatching -OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:31785 semapv:UnspecifiedMatching -OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:MIR371A semapv:UnspecifiedMatching -OMIM:612043 MIR371A skos:exactMatch ncbigene:442916 semapv:UnspecifiedMatching -OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:31786 semapv:UnspecifiedMatching -OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:MIR372 semapv:UnspecifiedMatching -OMIM:612044 MIRN372 skos:exactMatch ncbigene:442917 semapv:UnspecifiedMatching -OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:14326 semapv:UnspecifiedMatching -OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:C1QTNF3 semapv:UnspecifiedMatching -OMIM:612045 C1QTNF3 skos:exactMatch ncbigene:114899 semapv:UnspecifiedMatching -OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:23820 semapv:UnspecifiedMatching -OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:E2F7 semapv:UnspecifiedMatching -OMIM:612046 E2F7 skos:exactMatch ncbigene:144455 semapv:UnspecifiedMatching -OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:24727 semapv:UnspecifiedMatching -OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:E2F8 semapv:UnspecifiedMatching -OMIM:612047 E2F8 skos:exactMatch ncbigene:79733 semapv:UnspecifiedMatching -OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:28472 semapv:UnspecifiedMatching -OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:TMEM43 semapv:UnspecifiedMatching -OMIM:612048 TMEM43 skos:exactMatch ncbigene:79188 semapv:UnspecifiedMatching -OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:19441 semapv:UnspecifiedMatching -OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:RIOX2 semapv:UnspecifiedMatching -OMIM:612049 RIOX2 skos:exactMatch ncbigene:84864 semapv:UnspecifiedMatching -OMIM:612050 NDFIP1 skos:exactMatch hgnc.symbol:17592 semapv:UnspecifiedMatching -OMIM:612050 NDFIP1 skos:exactMatch hgnc.symbol:NDFIP1 semapv:UnspecifiedMatching -OMIM:612050 NDFIP1 skos:exactMatch ncbigene:80762 semapv:UnspecifiedMatching -OMIM:612051 BEAN1 skos:exactMatch hgnc.symbol:24160 semapv:UnspecifiedMatching -OMIM:612051 BEAN1 skos:exactMatch hgnc.symbol:BEAN1 semapv:UnspecifiedMatching -OMIM:612051 BEAN1 skos:exactMatch ncbigene:146227 semapv:UnspecifiedMatching -OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:1108 semapv:UnspecifiedMatching -OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:ZFP36L2 semapv:UnspecifiedMatching -OMIM:612053 ZFP36L2 skos:exactMatch ncbigene:678 semapv:UnspecifiedMatching -OMIM:612054 CNOT9 skos:exactMatch UMLS:C1419755 semapv:UnspecifiedMatching -OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:10445 semapv:UnspecifiedMatching -OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:CNOT9 semapv:UnspecifiedMatching -OMIM:612054 CNOT9 skos:exactMatch ncbigene:9125 semapv:UnspecifiedMatching -OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:18476 semapv:UnspecifiedMatching -OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:RPS27L semapv:UnspecifiedMatching -OMIM:612055 RPS27L skos:exactMatch ncbigene:51065 semapv:UnspecifiedMatching -OMIM:612056 GET4 skos:exactMatch hgnc.symbol:21690 semapv:UnspecifiedMatching -OMIM:612056 GET4 skos:exactMatch hgnc.symbol:GET4 semapv:UnspecifiedMatching -OMIM:612056 GET4 skos:exactMatch ncbigene:51608 semapv:UnspecifiedMatching -OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:28055 semapv:UnspecifiedMatching -OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:SAPCD2 semapv:UnspecifiedMatching -OMIM:612057 SAPCD2 skos:exactMatch ncbigene:89958 semapv:UnspecifiedMatching -OMIM:612058 SAMM50 skos:exactMatch UMLS:C1826973 semapv:UnspecifiedMatching -OMIM:612058 SAMM50 skos:exactMatch hgnc.symbol:24276 semapv:UnspecifiedMatching -OMIM:612058 SAMM50 skos:exactMatch hgnc.symbol:SAMM50 semapv:UnspecifiedMatching -OMIM:612058 SAMM50 skos:exactMatch ncbigene:25813 semapv:UnspecifiedMatching -OMIM:612059 LARP1 skos:exactMatch hgnc.symbol:29531 semapv:UnspecifiedMatching -OMIM:612059 LARP1 skos:exactMatch hgnc.symbol:LARP1 semapv:UnspecifiedMatching -OMIM:612059 LARP1 skos:exactMatch ncbigene:23367 semapv:UnspecifiedMatching -OMIM:612060 ZNRF1 skos:exactMatch hgnc.symbol:18452 semapv:UnspecifiedMatching -OMIM:612060 ZNRF1 skos:exactMatch hgnc.symbol:ZNRF1 semapv:UnspecifiedMatching -OMIM:612060 ZNRF1 skos:exactMatch ncbigene:84937 semapv:UnspecifiedMatching -OMIM:612061 ZNRF2 skos:exactMatch hgnc.symbol:22316 semapv:UnspecifiedMatching -OMIM:612061 ZNRF2 skos:exactMatch hgnc.symbol:ZNRF2 semapv:UnspecifiedMatching -OMIM:612061 ZNRF2 skos:exactMatch ncbigene:223082 semapv:UnspecifiedMatching -OMIM:612062 ZNRF3 skos:exactMatch hgnc.symbol:18126 semapv:UnspecifiedMatching -OMIM:612062 ZNRF3 skos:exactMatch hgnc.symbol:ZNRF3 semapv:UnspecifiedMatching -OMIM:612062 ZNRF3 skos:exactMatch ncbigene:84133 semapv:UnspecifiedMatching -OMIM:612063 ZNRF4 skos:exactMatch hgnc.symbol:17726 semapv:UnspecifiedMatching -OMIM:612063 ZNRF4 skos:exactMatch hgnc.symbol:ZNRF4 semapv:UnspecifiedMatching -OMIM:612063 ZNRF4 skos:exactMatch ncbigene:148066 semapv:UnspecifiedMatching -OMIM:612064 GIGYF1 skos:exactMatch hgnc.symbol:9126 semapv:UnspecifiedMatching -OMIM:612064 GIGYF1 skos:exactMatch hgnc.symbol:GIGYF1 semapv:UnspecifiedMatching -OMIM:612064 GIGYF1 skos:exactMatch ncbigene:64599 semapv:UnspecifiedMatching -OMIM:612065 PARP9 skos:exactMatch hgnc.symbol:24118 semapv:UnspecifiedMatching -OMIM:612065 PARP9 skos:exactMatch hgnc.symbol:PARP9 semapv:UnspecifiedMatching -OMIM:612065 PARP9 skos:exactMatch ncbigene:83666 semapv:UnspecifiedMatching -OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:26876 semapv:UnspecifiedMatching -OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:PARP15 semapv:UnspecifiedMatching -OMIM:612066 PARP15 skos:exactMatch ncbigene:165631 semapv:UnspecifiedMatching -OMIM:612068 PIRT skos:exactMatch hgnc.symbol:37239 semapv:UnspecifiedMatching -OMIM:612068 PIRT skos:exactMatch hgnc.symbol:PIRT semapv:UnspecifiedMatching -OMIM:612068 PIRT skos:exactMatch ncbigene:644139 semapv:UnspecifiedMatching -OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching -OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching -OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch UMLS:C2677565 semapv:UnspecifiedMatching -OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:31531 semapv:UnspecifiedMatching -OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:MIR144 semapv:UnspecifiedMatching -OMIM:612070 MIRN144 skos:exactMatch ncbigene:406936 semapv:UnspecifiedMatching -OMIM:612071 MIRN451 skos:exactMatch hgnc.symbol:32053 semapv:UnspecifiedMatching -OMIM:612071 MIRN451 skos:exactMatch hgnc.symbol:MIR451A semapv:UnspecifiedMatching -OMIM:612071 MIRN451 skos:exactMatch ncbigene:574411 semapv:UnspecifiedMatching -OMIM:612072 MIF4GD skos:exactMatch hgnc.symbol:24030 semapv:UnspecifiedMatching -OMIM:612072 MIF4GD skos:exactMatch hgnc.symbol:MIF4GD semapv:UnspecifiedMatching -OMIM:612072 MIF4GD skos:exactMatch ncbigene:57409 semapv:UnspecifiedMatching -OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:21863 semapv:UnspecifiedMatching -OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:RBM28 semapv:UnspecifiedMatching -OMIM:612074 RBM28 skos:exactMatch ncbigene:55131 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:255235 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching -OMIM:612076 hypouricemia, renal, 2 skos:exactMatch Orphanet:94088 semapv:UnspecifiedMatching -OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677549 semapv:UnspecifiedMatching -OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching -OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677551 semapv:UnspecifiedMatching -OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:31599 semapv:UnspecifiedMatching -OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:MIR22 semapv:UnspecifiedMatching -OMIM:612077 MIR22 skos:exactMatch ncbigene:407004 semapv:UnspecifiedMatching -OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:23216 semapv:UnspecifiedMatching -OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:ZNF469 semapv:UnspecifiedMatching -OMIM:612078 ZNF469 skos:exactMatch ncbigene:84627 semapv:UnspecifiedMatching -OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:29594 semapv:UnspecifiedMatching -OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:UQCRQ semapv:UnspecifiedMatching -OMIM:612080 UQCRQ skos:exactMatch ncbigene:27089 semapv:UnspecifiedMatching -OMIM:612081 IL34 skos:exactMatch hgnc.symbol:28529 semapv:UnspecifiedMatching -OMIM:612081 IL34 skos:exactMatch hgnc.symbol:IL34 semapv:UnspecifiedMatching -OMIM:612081 IL34 skos:exactMatch ncbigene:146433 semapv:UnspecifiedMatching -OMIM:612082 CIC skos:exactMatch hgnc.symbol:14214 semapv:UnspecifiedMatching -OMIM:612082 CIC skos:exactMatch hgnc.symbol:CIC semapv:UnspecifiedMatching -OMIM:612082 CIC skos:exactMatch ncbigene:23152 semapv:UnspecifiedMatching -OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:29955 semapv:UnspecifiedMatching -OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:SLC51A semapv:UnspecifiedMatching -OMIM:612084 SLC51A skos:exactMatch ncbigene:200931 semapv:UnspecifiedMatching -OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:29956 semapv:UnspecifiedMatching -OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:SLC51B semapv:UnspecifiedMatching -OMIM:612085 SLC51B skos:exactMatch ncbigene:123264 semapv:UnspecifiedMatching -OMIM:612086 HMSD skos:exactMatch hgnc.symbol:23037 semapv:UnspecifiedMatching -OMIM:612086 HMSD skos:exactMatch hgnc.symbol:HMSD semapv:UnspecifiedMatching -OMIM:612086 HMSD skos:exactMatch ncbigene:284293 semapv:UnspecifiedMatching -OMIM:612087 CLEC2A skos:exactMatch UMLS:C1539087 semapv:UnspecifiedMatching -OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:24191 semapv:UnspecifiedMatching -OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:CLEC2A semapv:UnspecifiedMatching -OMIM:612087 CLEC2A skos:exactMatch ncbigene:387836 semapv:UnspecifiedMatching -OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:31713 semapv:UnspecifiedMatching -OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:CLEC12A semapv:UnspecifiedMatching -OMIM:612088 CLEC12A skos:exactMatch ncbigene:160364 semapv:UnspecifiedMatching -OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:31578 semapv:UnspecifiedMatching -OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:MIR200A semapv:UnspecifiedMatching -OMIM:612090 MIR200A skos:exactMatch ncbigene:406983 semapv:UnspecifiedMatching -OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:31579 semapv:UnspecifiedMatching -OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:MIR200B semapv:UnspecifiedMatching -OMIM:612091 MIRN200B skos:exactMatch ncbigene:406984 semapv:UnspecifiedMatching -OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:31580 semapv:UnspecifiedMatching -OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:MIR200C semapv:UnspecifiedMatching -OMIM:612092 MIR200C skos:exactMatch ncbigene:406985 semapv:UnspecifiedMatching -OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:31528 semapv:UnspecifiedMatching -OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:MIR141 semapv:UnspecifiedMatching -OMIM:612093 MIR141 skos:exactMatch ncbigene:406933 semapv:UnspecifiedMatching -OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:13784 semapv:UnspecifiedMatching -OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:MIR429 semapv:UnspecifiedMatching -OMIM:612094 MIRN429 skos:exactMatch ncbigene:554210 semapv:UnspecifiedMatching -OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:18215 semapv:UnspecifiedMatching -OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:PI4K2B semapv:UnspecifiedMatching -OMIM:612101 PI4K2B skos:exactMatch ncbigene:55300 semapv:UnspecifiedMatching -OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:31485 semapv:UnspecifiedMatching -OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:MIRLET7G semapv:UnspecifiedMatching -OMIM:612102 MIRNLET7G skos:exactMatch ncbigene:406890 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:26232 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:NABP1 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:28412 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:NABP2 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch ncbigene:79035 semapv:UnspecifiedMatching -OMIM:612105 KLLN skos:exactMatch hgnc.symbol:37212 semapv:UnspecifiedMatching -OMIM:612105 KLLN skos:exactMatch hgnc.symbol:KLLN semapv:UnspecifiedMatching -OMIM:612105 KLLN skos:exactMatch ncbigene:100144748 semapv:UnspecifiedMatching -OMIM:612106 ZBTB40 skos:exactMatch hgnc.symbol:29045 semapv:UnspecifiedMatching -OMIM:612106 ZBTB40 skos:exactMatch hgnc.symbol:ZBTB40 semapv:UnspecifiedMatching -OMIM:612106 ZBTB40 skos:exactMatch ncbigene:9923 semapv:UnspecifiedMatching -OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:16192 semapv:UnspecifiedMatching -OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:SLC17A9 semapv:UnspecifiedMatching -OMIM:612107 SLC17A9 skos:exactMatch ncbigene:63910 semapv:UnspecifiedMatching -OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:17260 semapv:UnspecifiedMatching -OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:TNFAIP8 semapv:UnspecifiedMatching -OMIM:612111 TNFAIP8 skos:exactMatch ncbigene:25816 semapv:UnspecifiedMatching -OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:26277 semapv:UnspecifiedMatching -OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:TNFAIP8L2 semapv:UnspecifiedMatching -OMIM:612112 TNFAIP8L2 skos:exactMatch ncbigene:79626 semapv:UnspecifiedMatching -OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:683 semapv:UnspecifiedMatching -OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:ARHGEF3 semapv:UnspecifiedMatching -OMIM:612115 ARHGEF3 skos:exactMatch ncbigene:50650 semapv:UnspecifiedMatching -OMIM:612116 USP22 skos:exactMatch UMLS:C1421400 semapv:UnspecifiedMatching -OMIM:612116 USP22 skos:exactMatch hgnc.symbol:12621 semapv:UnspecifiedMatching -OMIM:612116 USP22 skos:exactMatch hgnc.symbol:USP22 semapv:UnspecifiedMatching -OMIM:612116 USP22 skos:exactMatch ncbigene:23326 semapv:UnspecifiedMatching -OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:31530 semapv:UnspecifiedMatching -OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:MIR143 semapv:UnspecifiedMatching -OMIM:612117 MIR143 skos:exactMatch ncbigene:406935 semapv:UnspecifiedMatching -OMIM:612118 IQSEC3 skos:exactMatch hgnc.symbol:29193 semapv:UnspecifiedMatching -OMIM:612118 IQSEC3 skos:exactMatch hgnc.symbol:IQSEC3 semapv:UnspecifiedMatching -OMIM:612118 IQSEC3 skos:exactMatch ncbigene:440073 semapv:UnspecifiedMatching -OMIM:612120 CIDEC skos:exactMatch hgnc.symbol:24229 semapv:UnspecifiedMatching -OMIM:612120 CIDEC skos:exactMatch hgnc.symbol:CIDEC semapv:UnspecifiedMatching -OMIM:612120 CIDEC skos:exactMatch ncbigene:63924 semapv:UnspecifiedMatching -OMIM:612121 PNPLA1 skos:exactMatch hgnc.symbol:21246 semapv:UnspecifiedMatching -OMIM:612121 PNPLA1 skos:exactMatch hgnc.symbol:PNPLA1 semapv:UnspecifiedMatching -OMIM:612121 PNPLA1 skos:exactMatch ncbigene:285848 semapv:UnspecifiedMatching -OMIM:612122 PNPLA7 skos:exactMatch hgnc.symbol:24768 semapv:UnspecifiedMatching -OMIM:612122 PNPLA7 skos:exactMatch hgnc.symbol:PNPLA7 semapv:UnspecifiedMatching -OMIM:612122 PNPLA7 skos:exactMatch ncbigene:375775 semapv:UnspecifiedMatching -OMIM:612123 PNPLA8 skos:exactMatch hgnc.symbol:28900 semapv:UnspecifiedMatching -OMIM:612123 PNPLA8 skos:exactMatch hgnc.symbol:PNPLA8 semapv:UnspecifiedMatching -OMIM:612123 PNPLA8 skos:exactMatch ncbigene:50640 semapv:UnspecifiedMatching -OMIM:612125 SERTAD3 skos:exactMatch hgnc.symbol:17931 semapv:UnspecifiedMatching -OMIM:612125 SERTAD3 skos:exactMatch hgnc.symbol:SERTAD3 semapv:UnspecifiedMatching -OMIM:612125 SERTAD3 skos:exactMatch ncbigene:29946 semapv:UnspecifiedMatching -OMIM:612127 HSD17B13 skos:exactMatch hgnc.symbol:18685 semapv:UnspecifiedMatching -OMIM:612127 HSD17B13 skos:exactMatch hgnc.symbol:HSD17B13 semapv:UnspecifiedMatching -OMIM:612127 HSD17B13 skos:exactMatch ncbigene:345275 semapv:UnspecifiedMatching -OMIM:612128 RASL10B skos:exactMatch hgnc.symbol:30295 semapv:UnspecifiedMatching -OMIM:612128 RASL10B skos:exactMatch hgnc.symbol:RASL10B semapv:UnspecifiedMatching -OMIM:612128 RASL10B skos:exactMatch ncbigene:91608 semapv:UnspecifiedMatching -OMIM:612129 IDO2 skos:exactMatch hgnc.symbol:27269 semapv:UnspecifiedMatching -OMIM:612129 IDO2 skos:exactMatch hgnc.symbol:IDO2 semapv:UnspecifiedMatching -OMIM:612129 IDO2 skos:exactMatch ncbigene:169355 semapv:UnspecifiedMatching -OMIM:612130 GAEC1 skos:exactMatch ncbigene:100126794 semapv:UnspecifiedMatching -OMIM:612131 DHRS9 skos:exactMatch hgnc.symbol:16888 semapv:UnspecifiedMatching -OMIM:612131 DHRS9 skos:exactMatch hgnc.symbol:DHRS9 semapv:UnspecifiedMatching -OMIM:612131 DHRS9 skos:exactMatch ncbigene:10170 semapv:UnspecifiedMatching -OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching -OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching -OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching -OMIM:612133 NFE4 skos:exactMatch hgnc.symbol:29902 semapv:UnspecifiedMatching -OMIM:612133 NFE4 skos:exactMatch hgnc.symbol:NFE4 semapv:UnspecifiedMatching -OMIM:612133 NFE4 skos:exactMatch ncbigene:58160 semapv:UnspecifiedMatching -OMIM:612134 GLCE skos:exactMatch hgnc.symbol:17855 semapv:UnspecifiedMatching -OMIM:612134 GLCE skos:exactMatch hgnc.symbol:GLCE semapv:UnspecifiedMatching -OMIM:612134 GLCE skos:exactMatch ncbigene:26035 semapv:UnspecifiedMatching -OMIM:612135 CABYR skos:exactMatch hgnc.symbol:15569 semapv:UnspecifiedMatching -OMIM:612135 CABYR skos:exactMatch hgnc.symbol:CABYR semapv:UnspecifiedMatching -OMIM:612135 CABYR skos:exactMatch ncbigene:26256 semapv:UnspecifiedMatching -OMIM:612136 ECHDC1 skos:exactMatch hgnc.symbol:21489 semapv:UnspecifiedMatching -OMIM:612136 ECHDC1 skos:exactMatch hgnc.symbol:ECHDC1 semapv:UnspecifiedMatching -OMIM:612136 ECHDC1 skos:exactMatch ncbigene:55862 semapv:UnspecifiedMatching -OMIM:612137 RNF146 skos:exactMatch hgnc.symbol:21336 semapv:UnspecifiedMatching -OMIM:612137 RNF146 skos:exactMatch hgnc.symbol:RNF146 semapv:UnspecifiedMatching -OMIM:612137 RNF146 skos:exactMatch ncbigene:81847 semapv:UnspecifiedMatching -OMIM:612139 PREX2 skos:exactMatch hgnc.symbol:22950 semapv:UnspecifiedMatching -OMIM:612139 PREX2 skos:exactMatch hgnc.symbol:PREX2 semapv:UnspecifiedMatching -OMIM:612139 PREX2 skos:exactMatch ncbigene:80243 semapv:UnspecifiedMatching -OMIM:612140 SEPT14 skos:exactMatch hgnc.symbol:33280 semapv:UnspecifiedMatching -OMIM:612140 SEPT14 skos:exactMatch hgnc.symbol:SEPTIN14 semapv:UnspecifiedMatching -OMIM:612140 SEPT14 skos:exactMatch ncbigene:346288 semapv:UnspecifiedMatching -OMIM:612141 EPB41L4A skos:exactMatch hgnc.symbol:13278 semapv:UnspecifiedMatching -OMIM:612141 EPB41L4A skos:exactMatch hgnc.symbol:EPB41L4A semapv:UnspecifiedMatching -OMIM:612141 EPB41L4A skos:exactMatch ncbigene:64097 semapv:UnspecifiedMatching -OMIM:612142 MIRLET7A2 skos:exactMatch hgnc.symbol:31477 semapv:UnspecifiedMatching -OMIM:612142 MIRLET7A2 skos:exactMatch hgnc.symbol:MIRLET7A2 semapv:UnspecifiedMatching -OMIM:612142 MIRLET7A2 skos:exactMatch ncbigene:406882 semapv:UnspecifiedMatching -OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc.symbol:31478 semapv:UnspecifiedMatching -OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc.symbol:MIRLET7A3 semapv:UnspecifiedMatching -OMIM:612143 MIRNLET7A3 skos:exactMatch ncbigene:406883 semapv:UnspecifiedMatching -OMIM:612144 MIRLET7C skos:exactMatch hgnc.symbol:31480 semapv:UnspecifiedMatching -OMIM:612144 MIRLET7C skos:exactMatch hgnc.symbol:MIRLET7C semapv:UnspecifiedMatching -OMIM:612144 MIRLET7C skos:exactMatch ncbigene:406885 semapv:UnspecifiedMatching -OMIM:612145 MIRNLET7D skos:exactMatch hgnc.symbol:31481 semapv:UnspecifiedMatching -OMIM:612145 MIRNLET7D skos:exactMatch hgnc.symbol:MIRLET7D semapv:UnspecifiedMatching -OMIM:612145 MIRNLET7D skos:exactMatch ncbigene:406886 semapv:UnspecifiedMatching -OMIM:612146 MIRLET7F1 skos:exactMatch hgnc.symbol:31483 semapv:UnspecifiedMatching -OMIM:612146 MIRLET7F1 skos:exactMatch hgnc.symbol:MIRLET7F1 semapv:UnspecifiedMatching -OMIM:612146 MIRLET7F1 skos:exactMatch ncbigene:406888 semapv:UnspecifiedMatching -OMIM:612147 MYLK3 skos:exactMatch hgnc.symbol:29826 semapv:UnspecifiedMatching -OMIM:612147 MYLK3 skos:exactMatch hgnc.symbol:MYLK3 semapv:UnspecifiedMatching -OMIM:612147 MYLK3 skos:exactMatch ncbigene:91807 semapv:UnspecifiedMatching -OMIM:612148 MIRNLET7I skos:exactMatch hgnc.symbol:31486 semapv:UnspecifiedMatching -OMIM:612148 MIRNLET7I skos:exactMatch hgnc.symbol:MIRLET7I semapv:UnspecifiedMatching -OMIM:612148 MIRNLET7I skos:exactMatch ncbigene:406891 semapv:UnspecifiedMatching -OMIM:612149 RBFOX2 skos:exactMatch hgnc.symbol:9906 semapv:UnspecifiedMatching -OMIM:612149 RBFOX2 skos:exactMatch hgnc.symbol:RBFOX2 semapv:UnspecifiedMatching -OMIM:612149 RBFOX2 skos:exactMatch ncbigene:23543 semapv:UnspecifiedMatching -OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:31609 semapv:UnspecifiedMatching -OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:MIR25 semapv:UnspecifiedMatching -OMIM:612150 MIR25 skos:exactMatch ncbigene:407014 semapv:UnspecifiedMatching -OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:31610 semapv:UnspecifiedMatching -OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:MIR26A1 semapv:UnspecifiedMatching -OMIM:612151 MIR26A1 skos:exactMatch ncbigene:407015 semapv:UnspecifiedMatching -OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:31612 semapv:UnspecifiedMatching -OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:MIR26B semapv:UnspecifiedMatching -OMIM:612152 MIR26B skos:exactMatch ncbigene:407017 semapv:UnspecifiedMatching -OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:31613 semapv:UnspecifiedMatching -OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:MIR27A semapv:UnspecifiedMatching -OMIM:612153 MIR27A skos:exactMatch ncbigene:407018 semapv:UnspecifiedMatching -OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:31615 semapv:UnspecifiedMatching -OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:MIR28 semapv:UnspecifiedMatching -OMIM:612154 MIR28 skos:exactMatch ncbigene:407020 semapv:UnspecifiedMatching -OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:31630 semapv:UnspecifiedMatching -OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:MIR31 semapv:UnspecifiedMatching -OMIM:612155 MIR31 skos:exactMatch ncbigene:407035 semapv:UnspecifiedMatching -OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:31634 semapv:UnspecifiedMatching -OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:MIR33A semapv:UnspecifiedMatching -OMIM:612156 MIR33A skos:exactMatch ncbigene:407039 semapv:UnspecifiedMatching -OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:17927 semapv:UnspecifiedMatching -OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:SENP1 semapv:UnspecifiedMatching -OMIM:612157 SENP1 skos:exactMatch ncbigene:29843 semapv:UnspecifiedMatching -OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:17056 semapv:UnspecifiedMatching -OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:RPH3A semapv:UnspecifiedMatching -OMIM:612159 RPH3A skos:exactMatch ncbigene:22895 semapv:UnspecifiedMatching -OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:20820 semapv:UnspecifiedMatching -OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:TPCN2 semapv:UnspecifiedMatching -OMIM:612163 TPCN2 skos:exactMatch ncbigene:219931 semapv:UnspecifiedMatching -OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching -OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching -OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:17127 semapv:UnspecifiedMatching -OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:SLC39A2 semapv:UnspecifiedMatching -OMIM:612166 SLC39A2 skos:exactMatch ncbigene:29986 semapv:UnspecifiedMatching -OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:30914 semapv:UnspecifiedMatching -OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:WDR48 semapv:UnspecifiedMatching -OMIM:612167 WDR48 skos:exactMatch ncbigene:57599 semapv:UnspecifiedMatching -OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:17128 semapv:UnspecifiedMatching -OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:SLC39A3 semapv:UnspecifiedMatching -OMIM:612168 SLC39A3 skos:exactMatch ncbigene:29985 semapv:UnspecifiedMatching -OMIM:612169 FCGR2C skos:exactMatch UMLS:C1521989 semapv:UnspecifiedMatching -OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:15626 semapv:UnspecifiedMatching -OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:FCGR2C semapv:UnspecifiedMatching -OMIM:612169 FCGR2C skos:exactMatch ncbigene:9103 semapv:UnspecifiedMatching -OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:14362 semapv:UnspecifiedMatching -OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:MUC19 semapv:UnspecifiedMatching -OMIM:612170 MUC19 skos:exactMatch ncbigene:283463 semapv:UnspecifiedMatching -OMIM:612171 RPRM skos:exactMatch hgnc.symbol:24201 semapv:UnspecifiedMatching -OMIM:612171 RPRM skos:exactMatch hgnc.symbol:RPRM semapv:UnspecifiedMatching -OMIM:612171 RPRM skos:exactMatch ncbigene:56475 semapv:UnspecifiedMatching -OMIM:612172 DDX23 skos:exactMatch UMLS:C1424920 semapv:UnspecifiedMatching -OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:17347 semapv:UnspecifiedMatching -OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:DDX23 semapv:UnspecifiedMatching -OMIM:612172 DDX23 skos:exactMatch ncbigene:9416 semapv:UnspecifiedMatching -OMIM:612173 SPAG16 skos:exactMatch UMLS:C1539808 semapv:UnspecifiedMatching -OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:23225 semapv:UnspecifiedMatching -OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:SPAG16 semapv:UnspecifiedMatching -OMIM:612173 SPAG16 skos:exactMatch ncbigene:79582 semapv:UnspecifiedMatching -OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:20292 semapv:UnspecifiedMatching -OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:CAB39 semapv:UnspecifiedMatching -OMIM:612174 CAB39 skos:exactMatch ncbigene:51719 semapv:UnspecifiedMatching -OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:20290 semapv:UnspecifiedMatching -OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:CAB39L semapv:UnspecifiedMatching -OMIM:612175 CAB39L skos:exactMatch ncbigene:81617 semapv:UnspecifiedMatching -OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:29401 semapv:UnspecifiedMatching -OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:MYSM1 semapv:UnspecifiedMatching -OMIM:612176 MYSM1 skos:exactMatch ncbigene:114803 semapv:UnspecifiedMatching -OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:10038 semapv:UnspecifiedMatching -OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:RN7SL1 semapv:UnspecifiedMatching -OMIM:612177 RN7SL1 skos:exactMatch ncbigene:6029 semapv:UnspecifiedMatching -OMIM:612178 HENMT1 skos:exactMatch UMLS:C1823206 semapv:UnspecifiedMatching -OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:26400 semapv:UnspecifiedMatching -OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:HENMT1 semapv:UnspecifiedMatching -OMIM:612178 HENMT1 skos:exactMatch ncbigene:113802 semapv:UnspecifiedMatching -OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:23134 semapv:UnspecifiedMatching -OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:RN7SL2 semapv:UnspecifiedMatching -OMIM:612179 RN7SL2 skos:exactMatch ncbigene:378706 semapv:UnspecifiedMatching -OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:23135 semapv:UnspecifiedMatching -OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:RN7SL3 semapv:UnspecifiedMatching -OMIM:612180 RN7SL3 skos:exactMatch ncbigene:378707 semapv:UnspecifiedMatching -OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:7511 semapv:UnspecifiedMatching -OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:MUC13 semapv:UnspecifiedMatching -OMIM:612181 MUC13 skos:exactMatch ncbigene:56667 semapv:UnspecifiedMatching -OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:7646 semapv:UnspecifiedMatching -OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:NAT2 semapv:UnspecifiedMatching -OMIM:612182 NAT2 skos:exactMatch ncbigene:10 semapv:UnspecifiedMatching -OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:32370 semapv:UnspecifiedMatching -OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:GPR176 semapv:UnspecifiedMatching -OMIM:612183 GPR176 skos:exactMatch ncbigene:11245 semapv:UnspecifiedMatching -OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:20879 semapv:UnspecifiedMatching -OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:CASKIN1 semapv:UnspecifiedMatching -OMIM:612184 CASKIN1 skos:exactMatch ncbigene:57524 semapv:UnspecifiedMatching -OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:18200 semapv:UnspecifiedMatching -OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:CASKIN2 semapv:UnspecifiedMatching -OMIM:612185 CASKIN2 skos:exactMatch ncbigene:57513 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C1414090 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C4015261 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C4539881 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:2938 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:DMXL2 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch ncbigene:23312 semapv:UnspecifiedMatching -OMIM:612187 SLC48A1 skos:exactMatch hgnc.symbol:26035 semapv:UnspecifiedMatching -OMIM:612187 SLC48A1 skos:exactMatch hgnc.symbol:SLC48A1 semapv:UnspecifiedMatching -OMIM:612187 SLC48A1 skos:exactMatch ncbigene:55652 semapv:UnspecifiedMatching -OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:20593 semapv:UnspecifiedMatching -OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:VPS39 semapv:UnspecifiedMatching -OMIM:612188 VPS39 skos:exactMatch ncbigene:23339 semapv:UnspecifiedMatching -OMIM:612189 PBLD skos:exactMatch hgnc.symbol:23301 semapv:UnspecifiedMatching -OMIM:612189 PBLD skos:exactMatch hgnc.symbol:PBLD semapv:UnspecifiedMatching -OMIM:612189 PBLD skos:exactMatch ncbigene:64081 semapv:UnspecifiedMatching -OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:24825 semapv:UnspecifiedMatching -OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:MLST8 semapv:UnspecifiedMatching -OMIM:612190 MLST8 skos:exactMatch ncbigene:64223 semapv:UnspecifiedMatching -OMIM:612191 MSMP skos:exactMatch hgnc.symbol:29663 semapv:UnspecifiedMatching -OMIM:612191 MSMP skos:exactMatch hgnc.symbol:MSMP semapv:UnspecifiedMatching -OMIM:612191 MSMP skos:exactMatch ncbigene:692094 semapv:UnspecifiedMatching -OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:18791 semapv:UnspecifiedMatching -OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:ZFP57 semapv:UnspecifiedMatching -OMIM:612192 ZFP57 skos:exactMatch ncbigene:346171 semapv:UnspecifiedMatching -OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:14305 semapv:UnspecifiedMatching -OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:CMYA5 semapv:UnspecifiedMatching -OMIM:612193 CMYA5 skos:exactMatch ncbigene:202333 semapv:UnspecifiedMatching -OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:16963 semapv:UnspecifiedMatching -OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:RRAGA semapv:UnspecifiedMatching -OMIM:612194 RRAGA skos:exactMatch ncbigene:10670 semapv:UnspecifiedMatching -OMIM:612195 ABHD1 skos:exactMatch UMLS:C1424994 semapv:UnspecifiedMatching -OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:17553 semapv:UnspecifiedMatching -OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:ABHD1 semapv:UnspecifiedMatching -OMIM:612195 ABHD1 skos:exactMatch ncbigene:84696 semapv:UnspecifiedMatching -OMIM:612196 ABHD2 skos:exactMatch UMLS:C1425733 semapv:UnspecifiedMatching -OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:18717 semapv:UnspecifiedMatching -OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:ABHD2 semapv:UnspecifiedMatching -OMIM:612196 ABHD2 skos:exactMatch ncbigene:11057 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch UMLS:C1425734 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:18718 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:ABHD3 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch ncbigene:171586 semapv:UnspecifiedMatching -OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:28490 semapv:UnspecifiedMatching -OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:DIPK2A semapv:UnspecifiedMatching -OMIM:612200 DIPK2A skos:exactMatch ncbigene:205428 semapv:UnspecifiedMatching -OMIM:612202 SOX7 skos:exactMatch UMLS:C1425372 semapv:UnspecifiedMatching -OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:18196 semapv:UnspecifiedMatching -OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:SOX7 semapv:UnspecifiedMatching -OMIM:612202 SOX7 skos:exactMatch ncbigene:83595 semapv:UnspecifiedMatching -OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:19968 semapv:UnspecifiedMatching -OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:NAP1L5 semapv:UnspecifiedMatching -OMIM:612203 NAP1L5 skos:exactMatch ncbigene:266812 semapv:UnspecifiedMatching -OMIM:612204 ATG9A skos:exactMatch UMLS:C1825499 semapv:UnspecifiedMatching -OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:22408 semapv:UnspecifiedMatching -OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:ATG9A semapv:UnspecifiedMatching -OMIM:612204 ATG9A skos:exactMatch ncbigene:79065 semapv:UnspecifiedMatching -OMIM:612205 ATG9B skos:exactMatch UMLS:C1825500 semapv:UnspecifiedMatching -OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:21899 semapv:UnspecifiedMatching -OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:ATG9B semapv:UnspecifiedMatching -OMIM:612205 ATG9B skos:exactMatch ncbigene:285973 semapv:UnspecifiedMatching -OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:17166 semapv:UnspecifiedMatching -OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:FJX1 semapv:UnspecifiedMatching -OMIM:612206 FJX1 skos:exactMatch ncbigene:24147 semapv:UnspecifiedMatching -OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:15452 semapv:UnspecifiedMatching -OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:GOLPH3 semapv:UnspecifiedMatching -OMIM:612207 GOLPH3 skos:exactMatch ncbigene:64083 semapv:UnspecifiedMatching -OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:24882 semapv:UnspecifiedMatching -OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:GOLPH3L semapv:UnspecifiedMatching -OMIM:612208 GOLPH3L skos:exactMatch ncbigene:55204 semapv:UnspecifiedMatching -OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:14907 semapv:UnspecifiedMatching -OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:MSGN1 semapv:UnspecifiedMatching -OMIM:612209 MSGN1 skos:exactMatch ncbigene:343930 semapv:UnspecifiedMatching -OMIM:612210 HULC skos:exactMatch hgnc.symbol:34232 semapv:UnspecifiedMatching -OMIM:612210 HULC skos:exactMatch hgnc.symbol:HULC semapv:UnspecifiedMatching -OMIM:612210 HULC skos:exactMatch ncbigene:728655 semapv:UnspecifiedMatching -OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:29592 semapv:UnspecifiedMatching -OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:TRARG1 semapv:UnspecifiedMatching -OMIM:612211 TUSC5 skos:exactMatch ncbigene:286753 semapv:UnspecifiedMatching -OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:9074 semapv:UnspecifiedMatching -OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:PLGLA semapv:UnspecifiedMatching -OMIM:612212 PLGLA skos:exactMatch ncbigene:285189 semapv:UnspecifiedMatching -OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:33906 semapv:UnspecifiedMatching -OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:BSPH1 semapv:UnspecifiedMatching -OMIM:612213 BSPH1 skos:exactMatch ncbigene:100131137 semapv:UnspecifiedMatching -OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:31911 semapv:UnspecifiedMatching -OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:RGL4 semapv:UnspecifiedMatching -OMIM:612214 RGL4 skos:exactMatch ncbigene:266747 semapv:UnspecifiedMatching -OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:32965 semapv:UnspecifiedMatching -OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:SNHG6 semapv:UnspecifiedMatching -OMIM:612215 SNHG6 skos:exactMatch ncbigene:641638 semapv:UnspecifiedMatching -OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:32746 semapv:UnspecifiedMatching -OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:SNORD87 semapv:UnspecifiedMatching -OMIM:612216 SNORD87 skos:exactMatch ncbigene:641648 semapv:UnspecifiedMatching -OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:21215 semapv:UnspecifiedMatching -OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:ILRUN semapv:UnspecifiedMatching -OMIM:612217 ILRUN skos:exactMatch ncbigene:64771 semapv:UnspecifiedMatching -OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:26636 semapv:UnspecifiedMatching -OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:ZBTB38 semapv:UnspecifiedMatching -OMIM:612218 ZBTB38 skos:exactMatch ncbigene:253461 semapv:UnspecifiedMatching -OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:24137 semapv:UnspecifiedMatching -OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:B4GALNT3 semapv:UnspecifiedMatching -OMIM:612220 B4GALNT3 skos:exactMatch ncbigene:283358 semapv:UnspecifiedMatching -OMIM:612222 GALNS skos:exactMatch hgnc.symbol:4122 semapv:UnspecifiedMatching -OMIM:612222 GALNS skos:exactMatch hgnc.symbol:GALNS semapv:UnspecifiedMatching -OMIM:612222 GALNS skos:exactMatch ncbigene:2588 semapv:UnspecifiedMatching -OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:23494 semapv:UnspecifiedMatching -OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:CALHM1 semapv:UnspecifiedMatching -OMIM:612234 CALHM1 skos:exactMatch ncbigene:255022 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch UMLS:C1539417 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:23493 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:CALHM2 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch ncbigene:51063 semapv:UnspecifiedMatching -OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:30208 semapv:UnspecifiedMatching -OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:ERGIC2 semapv:UnspecifiedMatching -OMIM:612236 ERGIC2 skos:exactMatch ncbigene:51290 semapv:UnspecifiedMatching -OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:13841 semapv:UnspecifiedMatching -OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:ADGRG6 semapv:UnspecifiedMatching -OMIM:612243 ADGRG6 skos:exactMatch ncbigene:57211 semapv:UnspecifiedMatching -OMIM:612246 CD302 skos:exactMatch hgnc.symbol:30843 semapv:UnspecifiedMatching -OMIM:612246 CD302 skos:exactMatch hgnc.symbol:CD302 semapv:UnspecifiedMatching -OMIM:612246 CD302 skos:exactMatch ncbigene:9936 semapv:UnspecifiedMatching -OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:30570 semapv:UnspecifiedMatching -OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:ZNF627 semapv:UnspecifiedMatching -OMIM:612248 ZNF627 skos:exactMatch ncbigene:199692 semapv:UnspecifiedMatching -OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:22207 semapv:UnspecifiedMatching -OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:THSD7A semapv:UnspecifiedMatching -OMIM:612249 THSD7A skos:exactMatch ncbigene:221981 semapv:UnspecifiedMatching -OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:23694 semapv:UnspecifiedMatching -OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:GPR161 semapv:UnspecifiedMatching -OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch ncbigene:23432 semapv:UnspecifiedMatching -OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:26705 semapv:UnspecifiedMatching -OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:CLEC9A semapv:UnspecifiedMatching -OMIM:612252 CLEC9A skos:exactMatch ncbigene:283420 semapv:UnspecifiedMatching -OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:19034 semapv:UnspecifiedMatching -OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:MAST1 semapv:UnspecifiedMatching -OMIM:612256 MAST1 skos:exactMatch ncbigene:22983 semapv:UnspecifiedMatching -OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:19035 semapv:UnspecifiedMatching -OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:MAST2 semapv:UnspecifiedMatching -OMIM:612257 MAST2 skos:exactMatch ncbigene:23139 semapv:UnspecifiedMatching -OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:19036 semapv:UnspecifiedMatching -OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:MAST3 semapv:UnspecifiedMatching -OMIM:612258 MAST3 skos:exactMatch ncbigene:23031 semapv:UnspecifiedMatching -OMIM:612260 immunodeficiency 68 skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching -OMIM:612260 immunodeficiency 68 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching -OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:16875 semapv:UnspecifiedMatching -OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:MRC2 semapv:UnspecifiedMatching -OMIM:612264 MRC2 skos:exactMatch ncbigene:9902 semapv:UnspecifiedMatching -OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:13247 semapv:UnspecifiedMatching -OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:FAM120A semapv:UnspecifiedMatching -OMIM:612265 FAM120A skos:exactMatch ncbigene:23196 semapv:UnspecifiedMatching -OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:21109 semapv:UnspecifiedMatching -OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:FAM120B semapv:UnspecifiedMatching -OMIM:612266 FAM120B skos:exactMatch ncbigene:84498 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch UMLS:C1823540 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch UMLS:C4014501 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:19963 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:TTLL5 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch ncbigene:23093 semapv:UnspecifiedMatching -OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:14625 semapv:UnspecifiedMatching -OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:CDCA4 semapv:UnspecifiedMatching -OMIM:612270 CDCA4 skos:exactMatch ncbigene:55038 semapv:UnspecifiedMatching -OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:19357 semapv:UnspecifiedMatching -OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:GGNBP2 semapv:UnspecifiedMatching -OMIM:612275 GGNBP2 skos:exactMatch ncbigene:79893 semapv:UnspecifiedMatching -OMIM:612276 YRDC skos:exactMatch hgnc.symbol:28905 semapv:UnspecifiedMatching -OMIM:612276 YRDC skos:exactMatch hgnc.symbol:YRDC semapv:UnspecifiedMatching -OMIM:612276 YRDC skos:exactMatch ncbigene:79693 semapv:UnspecifiedMatching -OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:14631 semapv:UnspecifiedMatching -OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:ADAMTSL2 semapv:UnspecifiedMatching -OMIM:612277 ADAMTSL2 skos:exactMatch ncbigene:9719 semapv:UnspecifiedMatching -OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:4006 semapv:UnspecifiedMatching -OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:FUCA1 semapv:UnspecifiedMatching -OMIM:612280 FUCA1 skos:exactMatch ncbigene:2517 semapv:UnspecifiedMatching -OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:21711 semapv:UnspecifiedMatching -OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:ZNF804A semapv:UnspecifiedMatching -OMIM:612282 ZNF804A skos:exactMatch ncbigene:91752 semapv:UnspecifiedMatching -OMIM:612283 PROC skos:exactMatch hgnc.symbol:9451 semapv:UnspecifiedMatching -OMIM:612283 PROC skos:exactMatch hgnc.symbol:PROC semapv:UnspecifiedMatching -OMIM:612283 PROC skos:exactMatch ncbigene:5624 semapv:UnspecifiedMatching -OMIM:612285 joubert syndrome 9 skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching -OMIM:612285 joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching -OMIM:612291 joubert syndrome 8 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching -OMIM:612291 joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching -OMIM:612292 birk-barel syndrome skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching -OMIM:612292 birk-barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching -OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:29899 semapv:UnspecifiedMatching -OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:DEPDC7 semapv:UnspecifiedMatching -OMIM:612294 DEPDC7 skos:exactMatch ncbigene:91614 semapv:UnspecifiedMatching -OMIM:612295 ARL14EP skos:exactMatch UMLS:C1824313 semapv:UnspecifiedMatching -OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:26798 semapv:UnspecifiedMatching -OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:ARL14EP semapv:UnspecifiedMatching -OMIM:612295 ARL14EP skos:exactMatch ncbigene:120534 semapv:UnspecifiedMatching -OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:27456 semapv:UnspecifiedMatching -OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:LINC00294 semapv:UnspecifiedMatching -OMIM:612296 LINC00294 skos:exactMatch ncbigene:283267 semapv:UnspecifiedMatching -OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:24836 semapv:UnspecifiedMatching -OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:KIAA1549L semapv:UnspecifiedMatching -OMIM:612297 C11ORF41 skos:exactMatch ncbigene:25758 semapv:UnspecifiedMatching -OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:19016 semapv:UnspecifiedMatching -OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:TRIM44 semapv:UnspecifiedMatching -OMIM:612298 TRIM44 skos:exactMatch ncbigene:54765 semapv:UnspecifiedMatching -OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:25014 semapv:UnspecifiedMatching -OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:COMMD9 semapv:UnspecifiedMatching -OMIM:612299 COMMD9 skos:exactMatch ncbigene:29099 semapv:UnspecifiedMatching -OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:13838 semapv:UnspecifiedMatching -OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:ADGRA1 semapv:UnspecifiedMatching -OMIM:612302 ADGRA1 skos:exactMatch ncbigene:84435 semapv:UnspecifiedMatching -OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:13839 semapv:UnspecifiedMatching -OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:ADGRA3 semapv:UnspecifiedMatching -OMIM:612303 ADGRA3 skos:exactMatch ncbigene:166647 semapv:UnspecifiedMatching -OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:19240 semapv:UnspecifiedMatching -OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:ADGRE4P semapv:UnspecifiedMatching -OMIM:612305 ADGRE4P skos:exactMatch ncbigene:326342 semapv:UnspecifiedMatching -OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:19241 semapv:UnspecifiedMatching -OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:ADGRG7 semapv:UnspecifiedMatching -OMIM:612307 ADGRG7 skos:exactMatch ncbigene:84873 semapv:UnspecifiedMatching -OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:23847 semapv:UnspecifiedMatching -OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:ZBTB4 semapv:UnspecifiedMatching -OMIM:612308 ZBTB4 skos:exactMatch ncbigene:57659 semapv:UnspecifiedMatching -OMIM:612309 F5 skos:exactMatch hgnc.symbol:3542 semapv:UnspecifiedMatching -OMIM:612309 F5 skos:exactMatch hgnc.symbol:F5 semapv:UnspecifiedMatching -OMIM:612309 F5 skos:exactMatch ncbigene:2153 semapv:UnspecifiedMatching -OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:23064 semapv:UnspecifiedMatching -OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:GSTO2 semapv:UnspecifiedMatching -OMIM:612314 GSTO2 skos:exactMatch ncbigene:119391 semapv:UnspecifiedMatching -OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:20406 semapv:UnspecifiedMatching -OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:KRT6C semapv:UnspecifiedMatching -OMIM:612315 KRT6C skos:exactMatch ncbigene:286887 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C1428501 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310856 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:25567 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:ATAD3A semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch ncbigene:55210 semapv:UnspecifiedMatching -OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:24007 semapv:UnspecifiedMatching -OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:ATAD3B semapv:UnspecifiedMatching -OMIM:612317 ATAD3B skos:exactMatch ncbigene:83858 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3668943 semapv:UnspecifiedMatching -OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:27297 semapv:UnspecifiedMatching -OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:CDCP2 semapv:UnspecifiedMatching -OMIM:612320 CDCP2 skos:exactMatch ncbigene:200008 semapv:UnspecifiedMatching -OMIM:612322 FASTKD2 skos:exactMatch UMLS:C1825280 semapv:UnspecifiedMatching -OMIM:612322 FASTKD2 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching -OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:29160 semapv:UnspecifiedMatching -OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:FASTKD2 semapv:UnspecifiedMatching -OMIM:612322 FASTKD2 skos:exactMatch ncbigene:22868 semapv:UnspecifiedMatching -OMIM:612323 IMMP1L skos:exactMatch UMLS:C1825596 semapv:UnspecifiedMatching -OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:26317 semapv:UnspecifiedMatching -OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:IMMP1L semapv:UnspecifiedMatching -OMIM:612323 IMMP1L skos:exactMatch ncbigene:196294 semapv:UnspecifiedMatching -OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:25079 semapv:UnspecifiedMatching -OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:CCDC34 semapv:UnspecifiedMatching -OMIM:612324 CCDC34 skos:exactMatch ncbigene:91057 semapv:UnspecifiedMatching -OMIM:612325 ICK skos:exactMatch hgnc.symbol:21219 semapv:UnspecifiedMatching -OMIM:612325 ICK skos:exactMatch hgnc.symbol:CILK1 semapv:UnspecifiedMatching -OMIM:612325 ICK skos:exactMatch ncbigene:22858 semapv:UnspecifiedMatching -OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:29181 semapv:UnspecifiedMatching -OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:TCF25 semapv:UnspecifiedMatching -OMIM:612326 TCF25 skos:exactMatch ncbigene:22980 semapv:UnspecifiedMatching -OMIM:612327 MANEA skos:exactMatch hgnc.symbol:21072 semapv:UnspecifiedMatching -OMIM:612327 MANEA skos:exactMatch hgnc.symbol:MANEA semapv:UnspecifiedMatching -OMIM:612327 MANEA skos:exactMatch ncbigene:79694 semapv:UnspecifiedMatching -OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:23261 semapv:UnspecifiedMatching -OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:CCDC73 semapv:UnspecifiedMatching -OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch ncbigene:493860 semapv:UnspecifiedMatching -OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:31624 semapv:UnspecifiedMatching -OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:MIR30A semapv:UnspecifiedMatching -OMIM:612329 MIR30A skos:exactMatch ncbigene:407029 semapv:UnspecifiedMatching -OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:32866 semapv:UnspecifiedMatching -OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:MIR610 semapv:UnspecifiedMatching -OMIM:612330 MIRN610 skos:exactMatch ncbigene:693195 semapv:UnspecifiedMatching -OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:17788 semapv:UnspecifiedMatching -OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:LIN7B semapv:UnspecifiedMatching -OMIM:612331 LIN7B skos:exactMatch ncbigene:64130 semapv:UnspecifiedMatching -OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:17789 semapv:UnspecifiedMatching -OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:LIN7C semapv:UnspecifiedMatching -OMIM:612332 LIN7C skos:exactMatch ncbigene:55327 semapv:UnspecifiedMatching -OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:13408 semapv:UnspecifiedMatching -OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:PDCD11 semapv:UnspecifiedMatching -OMIM:612333 PDCD11 skos:exactMatch ncbigene:22984 semapv:UnspecifiedMatching -OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:21683 semapv:UnspecifiedMatching -OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:NAPEPLD semapv:UnspecifiedMatching -OMIM:612334 NAPEPLD skos:exactMatch ncbigene:222236 semapv:UnspecifiedMatching -OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:16437 semapv:UnspecifiedMatching -OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:GGTLC1 semapv:UnspecifiedMatching -OMIM:612338 GGTLC1 skos:exactMatch ncbigene:92086 semapv:UnspecifiedMatching -OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:18596 semapv:UnspecifiedMatching -OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:GGTLC2 semapv:UnspecifiedMatching -OMIM:612339 GGTLC2 skos:exactMatch ncbigene:91227 semapv:UnspecifiedMatching -OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:33426 semapv:UnspecifiedMatching -OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:GGTLC3 semapv:UnspecifiedMatching -OMIM:612340 GGTLC3 skos:exactMatch ncbigene:728226 semapv:UnspecifiedMatching -OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:26891 semapv:UnspecifiedMatching -OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:GGT6 semapv:UnspecifiedMatching -OMIM:612341 GGT6 skos:exactMatch ncbigene:124975 semapv:UnspecifiedMatching -OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:4259 semapv:UnspecifiedMatching -OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:GGT7 semapv:UnspecifiedMatching -OMIM:612342 GGT7 skos:exactMatch ncbigene:2686 semapv:UnspecifiedMatching -OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:26332 semapv:UnspecifiedMatching -OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:ZNF385B semapv:UnspecifiedMatching -OMIM:612344 ZNF385B skos:exactMatch ncbigene:151126 semapv:UnspecifiedMatching -OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:4250 semapv:UnspecifiedMatching -OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:GGT1 semapv:UnspecifiedMatching -OMIM:612346 GGT1 skos:exactMatch ncbigene:2678 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C1418251 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C2676533 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch UMLS:C2678416 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch hgnc.symbol:8582 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch hgnc.symbol:PAH semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch ncbigene:5053 semapv:UnspecifiedMatching -OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:35123 semapv:UnspecifiedMatching -OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:FOXI3 semapv:UnspecifiedMatching -OMIM:612351 FOXI3 skos:exactMatch ncbigene:344167 semapv:UnspecifiedMatching -OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:24105 semapv:UnspecifiedMatching -OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:STAMBPL1 semapv:UnspecifiedMatching -OMIM:612352 STAMBPL1 skos:exactMatch ncbigene:57559 semapv:UnspecifiedMatching -OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:6383 semapv:UnspecifiedMatching -OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:KNG1 semapv:UnspecifiedMatching -OMIM:612358 KNG1 skos:exactMatch ncbigene:3827 semapv:UnspecifiedMatching -OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:15899 semapv:UnspecifiedMatching -OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:NDUFAF5 semapv:UnspecifiedMatching -OMIM:612360 NDUFAF5 skos:exactMatch ncbigene:79133 semapv:UnspecifiedMatching -OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:23096 semapv:UnspecifiedMatching -OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:SLC29A3 semapv:UnspecifiedMatching -OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch ncbigene:55315 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch UMLS:C1823437 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch UMLS:C4014722 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch hgnc.symbol:27962 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch hgnc.symbol:STING1 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch ncbigene:340061 semapv:UnspecifiedMatching -OMIM:612375 AIDA skos:exactMatch hgnc.symbol:25761 semapv:UnspecifiedMatching -OMIM:612375 AIDA skos:exactMatch hgnc.symbol:AIDA semapv:UnspecifiedMatching -OMIM:612375 AIDA skos:exactMatch ncbigene:64853 semapv:UnspecifiedMatching -OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:24015 semapv:UnspecifiedMatching -OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:COMMD6 semapv:UnspecifiedMatching -OMIM:612377 COMMD6 skos:exactMatch ncbigene:170622 semapv:UnspecifiedMatching -OMIM:612382 MED10 skos:exactMatch hgnc.symbol:28760 semapv:UnspecifiedMatching -OMIM:612382 MED10 skos:exactMatch hgnc.symbol:MED10 semapv:UnspecifiedMatching -OMIM:612382 MED10 skos:exactMatch ncbigene:84246 semapv:UnspecifiedMatching -OMIM:612383 MED11 skos:exactMatch hgnc.symbol:32687 semapv:UnspecifiedMatching -OMIM:612383 MED11 skos:exactMatch hgnc.symbol:MED11 semapv:UnspecifiedMatching -OMIM:612383 MED11 skos:exactMatch ncbigene:400569 semapv:UnspecifiedMatching -OMIM:612384 MED18 skos:exactMatch hgnc.symbol:25944 semapv:UnspecifiedMatching -OMIM:612384 MED18 skos:exactMatch hgnc.symbol:MED18 semapv:UnspecifiedMatching -OMIM:612384 MED18 skos:exactMatch ncbigene:54797 semapv:UnspecifiedMatching -OMIM:612385 MED19 skos:exactMatch hgnc.symbol:29600 semapv:UnspecifiedMatching -OMIM:612385 MED19 skos:exactMatch hgnc.symbol:MED19 semapv:UnspecifiedMatching -OMIM:612385 MED19 skos:exactMatch ncbigene:219541 semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch UMLS:C1414580 semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch UMLS:C4692546 semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch hgnc.symbol:3647 semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch hgnc.symbol:FECH semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch ncbigene:2235 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C1824247 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:28625 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:NDUFAF6 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch ncbigene:137682 semapv:UnspecifiedMatching -OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:30493 semapv:UnspecifiedMatching -OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:WHAMM semapv:UnspecifiedMatching -OMIM:612393 WHAMM skos:exactMatch ncbigene:123720 semapv:UnspecifiedMatching -OMIM:612395 CHKB skos:exactMatch hgnc.symbol:1938 semapv:UnspecifiedMatching -OMIM:612395 CHKB skos:exactMatch hgnc.symbol:CHKB semapv:UnspecifiedMatching -OMIM:612395 CHKB skos:exactMatch ncbigene:1120 semapv:UnspecifiedMatching -OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:17377 semapv:UnspecifiedMatching -OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:ALLC semapv:UnspecifiedMatching -OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:33484 semapv:UnspecifiedMatching -OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:COL6A4P1 semapv:UnspecifiedMatching -OMIM:612397 COL6A4P1 skos:exactMatch ncbigene:344875 semapv:UnspecifiedMatching -OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:18263 semapv:UnspecifiedMatching -OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:RAB21 semapv:UnspecifiedMatching -OMIM:612398 RAB21 skos:exactMatch ncbigene:23011 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch UMLS:C1539970 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:30788 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:TLE6 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch ncbigene:79816 semapv:UnspecifiedMatching -OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:20605 semapv:UnspecifiedMatching -OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:ALS2CL semapv:UnspecifiedMatching -OMIM:612402 ALS2CL skos:exactMatch ncbigene:259173 semapv:UnspecifiedMatching -OMIM:612403 RASL11A skos:exactMatch UMLS:C1428270 semapv:UnspecifiedMatching -OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:23802 semapv:UnspecifiedMatching -OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:RASL11A semapv:UnspecifiedMatching -OMIM:612403 RASL11A skos:exactMatch ncbigene:387496 semapv:UnspecifiedMatching -OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:23804 semapv:UnspecifiedMatching -OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:RASL11B semapv:UnspecifiedMatching -OMIM:612404 RASL11B skos:exactMatch ncbigene:65997 semapv:UnspecifiedMatching -OMIM:612405 ARL9 skos:exactMatch UMLS:C1428141 semapv:UnspecifiedMatching -OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:23592 semapv:UnspecifiedMatching -OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:ARL9 semapv:UnspecifiedMatching -OMIM:612405 ARL9 skos:exactMatch ncbigene:132946 semapv:UnspecifiedMatching -OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:26839 semapv:UnspecifiedMatching -OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:RGS21 semapv:UnspecifiedMatching -OMIM:612407 RGS21 skos:exactMatch ncbigene:431704 semapv:UnspecifiedMatching -OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:20320 semapv:UnspecifiedMatching -OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:PSPC1 semapv:UnspecifiedMatching -OMIM:612408 PSPC1 skos:exactMatch ncbigene:55269 semapv:UnspecifiedMatching -OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:14219 semapv:UnspecifiedMatching -OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:RBM14 semapv:UnspecifiedMatching -OMIM:612409 RBM14 skos:exactMatch ncbigene:10432 semapv:UnspecifiedMatching -OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:23109 semapv:UnspecifiedMatching -OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:FAT4 semapv:UnspecifiedMatching -OMIM:612411 FAT4 skos:exactMatch ncbigene:79633 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch UMLS:C1412978 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:1298 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:SPATC1L semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch ncbigene:84221 semapv:UnspecifiedMatching -OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:9904 semapv:UnspecifiedMatching -OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:RBM7 semapv:UnspecifiedMatching -OMIM:612413 RBM7 skos:exactMatch ncbigene:10179 semapv:UnspecifiedMatching -OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:25033 semapv:UnspecifiedMatching -OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:LRTOMT semapv:UnspecifiedMatching -OMIM:612414 LRTOMT skos:exactMatch ncbigene:220074 semapv:UnspecifiedMatching -OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:9765 semapv:UnspecifiedMatching -OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:RAB24 semapv:UnspecifiedMatching -OMIM:612415 RAB24 skos:exactMatch ncbigene:53917 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch UMLS:C1823334 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:26050 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:TMEM70 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch ncbigene:54968 semapv:UnspecifiedMatching -OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:24213 semapv:UnspecifiedMatching -OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:CILP2 semapv:UnspecifiedMatching -OMIM:612419 CILP2 skos:exactMatch ncbigene:148113 semapv:UnspecifiedMatching -OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:25901 semapv:UnspecifiedMatching -OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:AFAP1L2 semapv:UnspecifiedMatching -OMIM:612420 AFAP1L2 skos:exactMatch ncbigene:84632 semapv:UnspecifiedMatching -OMIM:612424 EYS skos:exactMatch hgnc.symbol:21555 semapv:UnspecifiedMatching -OMIM:612424 EYS skos:exactMatch hgnc.symbol:EYS semapv:UnspecifiedMatching -OMIM:612424 EYS skos:exactMatch ncbigene:346007 semapv:UnspecifiedMatching -OMIM:612425 SGOL2 skos:exactMatch UMLS:C1429002 semapv:UnspecifiedMatching -OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:30812 semapv:UnspecifiedMatching -OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:SGO2 semapv:UnspecifiedMatching -OMIM:612425 SGOL2 skos:exactMatch ncbigene:151246 semapv:UnspecifiedMatching -OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:28349 semapv:UnspecifiedMatching -OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:RMI2 semapv:UnspecifiedMatching -OMIM:612426 RMI2 skos:exactMatch ncbigene:116028 semapv:UnspecifiedMatching -OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:23244 semapv:UnspecifiedMatching -OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:RBM25 semapv:UnspecifiedMatching -OMIM:612427 RBM25 skos:exactMatch ncbigene:58517 semapv:UnspecifiedMatching -OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:15818 semapv:UnspecifiedMatching -OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:RBM38 semapv:UnspecifiedMatching -OMIM:612428 RBM38 skos:exactMatch ncbigene:55544 semapv:UnspecifiedMatching -OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:13091 semapv:UnspecifiedMatching -OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:ZNF300 semapv:UnspecifiedMatching -OMIM:612429 ZNF300 skos:exactMatch ncbigene:91975 semapv:UnspecifiedMatching -OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:25503 semapv:UnspecifiedMatching -OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:RBM22 semapv:UnspecifiedMatching -OMIM:612430 RBM22 skos:exactMatch ncbigene:55696 semapv:UnspecifiedMatching -OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:22004 semapv:UnspecifiedMatching -OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:WIPF3 semapv:UnspecifiedMatching -OMIM:612432 WIPF3 skos:exactMatch ncbigene:644150 semapv:UnspecifiedMatching -OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:25248 semapv:UnspecifiedMatching -OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:CRISPLD2 semapv:UnspecifiedMatching -OMIM:612434 CRISPLD2 skos:exactMatch ncbigene:83716 semapv:UnspecifiedMatching -OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:10952 semapv:UnspecifiedMatching -OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:SLCO3A1 semapv:UnspecifiedMatching -OMIM:612435 SLCO3A1 skos:exactMatch ncbigene:28232 semapv:UnspecifiedMatching -OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:10953 semapv:UnspecifiedMatching -OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:SLCO4A1 semapv:UnspecifiedMatching -OMIM:612436 SLCO4A1 skos:exactMatch ncbigene:28231 semapv:UnspecifiedMatching -OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:661 semapv:UnspecifiedMatching -OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:ARFGAP3 semapv:UnspecifiedMatching -OMIM:612439 ARFGAP3 skos:exactMatch ncbigene:26286 semapv:UnspecifiedMatching -OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:24140 semapv:UnspecifiedMatching -OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:MGAT5B semapv:UnspecifiedMatching -OMIM:612441 MGAT5B skos:exactMatch ncbigene:146664 semapv:UnspecifiedMatching -OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:20260 semapv:UnspecifiedMatching -OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:SEC22A semapv:UnspecifiedMatching -OMIM:612442 SEC22A skos:exactMatch ncbigene:26984 semapv:UnspecifiedMatching -OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:26881 semapv:UnspecifiedMatching -OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:GEN1 semapv:UnspecifiedMatching -OMIM:612449 GEN1 skos:exactMatch ncbigene:348654 semapv:UnspecifiedMatching -OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:4834 semapv:UnspecifiedMatching -OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:HBS1L semapv:UnspecifiedMatching -OMIM:612450 HBS1L skos:exactMatch ncbigene:10767 semapv:UnspecifiedMatching -OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:13094 semapv:UnspecifiedMatching -OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:RNF114 semapv:UnspecifiedMatching -OMIM:612451 RNF114 skos:exactMatch ncbigene:55905 semapv:UnspecifiedMatching -OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:24565 semapv:UnspecifiedMatching -OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:KANSL1 semapv:UnspecifiedMatching -OMIM:612452 KANSL1 skos:exactMatch ncbigene:284058 semapv:UnspecifiedMatching -OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:29634 semapv:UnspecifiedMatching -OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:MEGF10 semapv:UnspecifiedMatching -OMIM:612453 MEGF10 skos:exactMatch ncbigene:84466 semapv:UnspecifiedMatching -OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:29635 semapv:UnspecifiedMatching -OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:MEGF11 semapv:UnspecifiedMatching -OMIM:612454 MEGF11 skos:exactMatch ncbigene:84465 semapv:UnspecifiedMatching -OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:28750 semapv:UnspecifiedMatching -OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:SLC5A12 semapv:UnspecifiedMatching -OMIM:612455 SLC5A12 skos:exactMatch ncbigene:159963 semapv:UnspecifiedMatching -OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:25268 semapv:UnspecifiedMatching -OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:APOLD1 semapv:UnspecifiedMatching -OMIM:612456 APOLD1 skos:exactMatch ncbigene:81575 semapv:UnspecifiedMatching -OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:14350 semapv:UnspecifiedMatching -OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:ARID3B semapv:UnspecifiedMatching -OMIM:612457 ARID3B skos:exactMatch ncbigene:10620 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch UMLS:C1538908 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:160 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:ACTL6B semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch ncbigene:51412 semapv:UnspecifiedMatching -OMIM:612461 ARC skos:exactMatch hgnc.symbol:648 semapv:UnspecifiedMatching -OMIM:612461 ARC skos:exactMatch hgnc.symbol:ARC semapv:UnspecifiedMatching -OMIM:612461 ARC skos:exactMatch ncbigene:23237 semapv:UnspecifiedMatching -OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:29263 semapv:UnspecifiedMatching -OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:ARRDC3 semapv:UnspecifiedMatching -OMIM:612464 ARRDC3 skos:exactMatch ncbigene:57561 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch UMLS:C1426056 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch UMLS:C5436964 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:19165 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:TBC1D4 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch ncbigene:9882 semapv:UnspecifiedMatching -OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:20480 semapv:UnspecifiedMatching -OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:GBP4 semapv:UnspecifiedMatching -OMIM:612466 GBP4 skos:exactMatch ncbigene:115361 semapv:UnspecifiedMatching -OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:25395 semapv:UnspecifiedMatching -OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:GBP6 semapv:UnspecifiedMatching -OMIM:612467 GBP6 skos:exactMatch ncbigene:163351 semapv:UnspecifiedMatching -OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:29606 semapv:UnspecifiedMatching -OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:GBP7 semapv:UnspecifiedMatching -OMIM:612468 GBP7 skos:exactMatch ncbigene:388646 semapv:UnspecifiedMatching -OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:28915 semapv:UnspecifiedMatching -OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:BATF3 semapv:UnspecifiedMatching -OMIM:612470 BATF3 skos:exactMatch ncbigene:55509 semapv:UnspecifiedMatching -OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:14412 semapv:UnspecifiedMatching -OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:AGXT2 semapv:UnspecifiedMatching -OMIM:612471 AGXT2 skos:exactMatch ncbigene:64902 semapv:UnspecifiedMatching -OMIM:612472 METTL3 skos:exactMatch UMLS:C1424999 semapv:UnspecifiedMatching -OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:17563 semapv:UnspecifiedMatching -OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:METTL3 semapv:UnspecifiedMatching -OMIM:612472 METTL3 skos:exactMatch ncbigene:56339 semapv:UnspecifiedMatching -OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:28319 semapv:UnspecifiedMatching -OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:PEBP4 semapv:UnspecifiedMatching -OMIM:612473 PEBP4 skos:exactMatch ncbigene:157310 semapv:UnspecifiedMatching -OMIM:612476 BATF skos:exactMatch hgnc.symbol:958 semapv:UnspecifiedMatching -OMIM:612476 BATF skos:exactMatch hgnc.symbol:BATF semapv:UnspecifiedMatching -OMIM:612476 BATF skos:exactMatch ncbigene:10538 semapv:UnspecifiedMatching -OMIM:612477 IQCG skos:exactMatch hgnc.symbol:25251 semapv:UnspecifiedMatching -OMIM:612477 IQCG skos:exactMatch hgnc.symbol:IQCG semapv:UnspecifiedMatching -OMIM:612477 IQCG skos:exactMatch ncbigene:84223 semapv:UnspecifiedMatching -OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:15851 semapv:UnspecifiedMatching -OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:NECAB3 semapv:UnspecifiedMatching -OMIM:612478 NECAB3 skos:exactMatch ncbigene:63941 semapv:UnspecifiedMatching -OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:23696 semapv:UnspecifiedMatching -OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:TIPARP semapv:UnspecifiedMatching -OMIM:612480 TIPARP skos:exactMatch ncbigene:25976 semapv:UnspecifiedMatching -OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:21919 semapv:UnspecifiedMatching -OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:PARP12 semapv:UnspecifiedMatching -OMIM:612481 PARP12 skos:exactMatch ncbigene:64761 semapv:UnspecifiedMatching -OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:18505 semapv:UnspecifiedMatching -OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:RNF43 semapv:UnspecifiedMatching -OMIM:612482 RNF43 skos:exactMatch ncbigene:54894 semapv:UnspecifiedMatching -OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:23112 semapv:UnspecifiedMatching -OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:FAT3 semapv:UnspecifiedMatching -OMIM:612483 FAT3 skos:exactMatch ncbigene:120114 semapv:UnspecifiedMatching -OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:19278 semapv:UnspecifiedMatching -OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:RNASE7 semapv:UnspecifiedMatching -OMIM:612484 RNASE7 skos:exactMatch ncbigene:84659 semapv:UnspecifiedMatching -OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:19277 semapv:UnspecifiedMatching -OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:RNASE8 semapv:UnspecifiedMatching -OMIM:612485 RNASE8 skos:exactMatch ncbigene:122665 semapv:UnspecifiedMatching -OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:23111 semapv:UnspecifiedMatching -OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:DCHS2 semapv:UnspecifiedMatching -OMIM:612486 DCHS2 skos:exactMatch ncbigene:54798 semapv:UnspecifiedMatching -OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:16031 semapv:UnspecifiedMatching -OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:RNF31 semapv:UnspecifiedMatching -OMIM:612487 RNF31 skos:exactMatch ncbigene:55072 semapv:UnspecifiedMatching -OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:18052 semapv:UnspecifiedMatching -OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:RNF38 semapv:UnspecifiedMatching -OMIM:612488 RNF38 skos:exactMatch ncbigene:152006 semapv:UnspecifiedMatching -OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:13779 semapv:UnspecifiedMatching -OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:RNF24 semapv:UnspecifiedMatching -OMIM:612489 RNF24 skos:exactMatch ncbigene:11237 semapv:UnspecifiedMatching -OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:28037 semapv:UnspecifiedMatching -OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:RNF181 semapv:UnspecifiedMatching -OMIM:612490 RNF181 skos:exactMatch ncbigene:51255 semapv:UnspecifiedMatching -OMIM:612491 APIP skos:exactMatch hgnc.symbol:17581 semapv:UnspecifiedMatching -OMIM:612491 APIP skos:exactMatch hgnc.symbol:APIP semapv:UnspecifiedMatching -OMIM:612491 APIP skos:exactMatch ncbigene:51074 semapv:UnspecifiedMatching -OMIM:612492 USP30 skos:exactMatch hgnc.symbol:20065 semapv:UnspecifiedMatching -OMIM:612492 USP30 skos:exactMatch hgnc.symbol:USP30 semapv:UnspecifiedMatching -OMIM:612492 USP30 skos:exactMatch ncbigene:84749 semapv:UnspecifiedMatching -OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:27786 semapv:UnspecifiedMatching -OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:CNPY1 semapv:UnspecifiedMatching -OMIM:612493 CNPY1 skos:exactMatch ncbigene:285888 semapv:UnspecifiedMatching -OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:25540 semapv:UnspecifiedMatching -OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:ARHGEF10L semapv:UnspecifiedMatching -OMIM:612494 ARHGEF10L skos:exactMatch ncbigene:55160 semapv:UnspecifiedMatching -OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:21381 semapv:UnspecifiedMatching -OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:UBE3D semapv:UnspecifiedMatching -OMIM:612495 UBE3D skos:exactMatch ncbigene:90025 semapv:UnspecifiedMatching -OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:26604 semapv:UnspecifiedMatching -OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:ARHGEF19 semapv:UnspecifiedMatching -OMIM:612496 ARHGEF19 skos:exactMatch ncbigene:128272 semapv:UnspecifiedMatching -OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:30728 semapv:UnspecifiedMatching -OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:NSA2 semapv:UnspecifiedMatching -OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch ncbigene:10412 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch UMLS:C1426678 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:20093 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:ADSS1 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch ncbigene:122622 semapv:UnspecifiedMatching -OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:30217 semapv:UnspecifiedMatching -OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:DIMT1 semapv:UnspecifiedMatching -OMIM:612499 DIMT1 skos:exactMatch ncbigene:27292 semapv:UnspecifiedMatching -OMIM:612500 DDX52 skos:exactMatch UMLS:C1426628 semapv:UnspecifiedMatching -OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:20038 semapv:UnspecifiedMatching -OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:DDX52 semapv:UnspecifiedMatching -OMIM:612500 DDX52 skos:exactMatch ncbigene:11056 semapv:UnspecifiedMatching -OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:19248 semapv:UnspecifiedMatching -OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:UBE2Q2 semapv:UnspecifiedMatching -OMIM:612501 UBE2Q2 skos:exactMatch ncbigene:92912 semapv:UnspecifiedMatching -OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:17213 semapv:UnspecifiedMatching -OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:COLEC11 semapv:UnspecifiedMatching -OMIM:612502 COLEC11 skos:exactMatch ncbigene:78989 semapv:UnspecifiedMatching -OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:35 semapv:UnspecifiedMatching -OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:ABCA5 semapv:UnspecifiedMatching -OMIM:612503 ABCA5 skos:exactMatch ncbigene:23461 semapv:UnspecifiedMatching -OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:36 semapv:UnspecifiedMatching -OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:ABCA6 semapv:UnspecifiedMatching -OMIM:612504 ABCA6 skos:exactMatch ncbigene:23460 semapv:UnspecifiedMatching -OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:38 semapv:UnspecifiedMatching -OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:ABCA8 semapv:UnspecifiedMatching -OMIM:612505 ABCA8 skos:exactMatch ncbigene:10351 semapv:UnspecifiedMatching -OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:19907 semapv:UnspecifiedMatching -OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:UBE2R2 semapv:UnspecifiedMatching -OMIM:612506 UBE2R2 skos:exactMatch ncbigene:54926 semapv:UnspecifiedMatching -OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:39 semapv:UnspecifiedMatching -OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:ABCA9 semapv:UnspecifiedMatching -OMIM:612507 ABCA9 skos:exactMatch ncbigene:10350 semapv:UnspecifiedMatching -OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:30 semapv:UnspecifiedMatching -OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:ABCA10 semapv:UnspecifiedMatching -OMIM:612508 ABCA10 skos:exactMatch ncbigene:10349 semapv:UnspecifiedMatching -OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:52 semapv:UnspecifiedMatching -OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:ABCC10 semapv:UnspecifiedMatching -OMIM:612509 ABCC10 skos:exactMatch ncbigene:89845 semapv:UnspecifiedMatching -OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:71 semapv:UnspecifiedMatching -OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:ABCF2 semapv:UnspecifiedMatching -OMIM:612510 ABCF2 skos:exactMatch ncbigene:10061 semapv:UnspecifiedMatching -OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:31488 semapv:UnspecifiedMatching -OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:MIR101-1 semapv:UnspecifiedMatching -OMIM:612511 MIRN101-1 skos:exactMatch ncbigene:406893 semapv:UnspecifiedMatching -OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:31489 semapv:UnspecifiedMatching -OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:MIR101-2 semapv:UnspecifiedMatching -OMIM:612512 MIRN101-2 skos:exactMatch ncbigene:406894 semapv:UnspecifiedMatching -OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:25784 semapv:UnspecifiedMatching -OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:DCAF17 semapv:UnspecifiedMatching -OMIM:612515 DCAF17 skos:exactMatch ncbigene:80067 semapv:UnspecifiedMatching -OMIM:612516 UACA skos:exactMatch hgnc.symbol:15947 semapv:UnspecifiedMatching -OMIM:612516 UACA skos:exactMatch hgnc.symbol:UACA semapv:UnspecifiedMatching -OMIM:612516 UACA skos:exactMatch ncbigene:55075 semapv:UnspecifiedMatching -OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:20188 semapv:UnspecifiedMatching -OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:DNAAF2 semapv:UnspecifiedMatching -OMIM:612517 DNAAF2 skos:exactMatch ncbigene:55172 semapv:UnspecifiedMatching -OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:15621 semapv:UnspecifiedMatching -OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:SLC35D3 semapv:UnspecifiedMatching -OMIM:612519 SLC35D3 skos:exactMatch ncbigene:340146 semapv:UnspecifiedMatching -OMIM:612520 iia 1 diabetes mellitus 20 skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching -OMIM:612521 iia 1 diabetes mellitus 21 skos:exactMatch UMLS:C2675865 semapv:UnspecifiedMatching -OMIM:612522 iia 1 diabetes mellitus 22 skos:exactMatch UMLS:C2675864 semapv:UnspecifiedMatching -OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:25721 semapv:UnspecifiedMatching -OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:IQCH semapv:UnspecifiedMatching -OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch ncbigene:64799 semapv:UnspecifiedMatching -OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:21300 semapv:UnspecifiedMatching -OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:RPP21 semapv:UnspecifiedMatching -OMIM:612524 RPP21 skos:exactMatch ncbigene:79897 semapv:UnspecifiedMatching -OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:20854 semapv:UnspecifiedMatching -OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:THAP2 semapv:UnspecifiedMatching -OMIM:612531 THAP2 skos:exactMatch ncbigene:83591 semapv:UnspecifiedMatching -OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:20855 semapv:UnspecifiedMatching -OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:THAP3 semapv:UnspecifiedMatching -OMIM:612532 THAP3 skos:exactMatch ncbigene:90326 semapv:UnspecifiedMatching -OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:23187 semapv:UnspecifiedMatching -OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:THAP4 semapv:UnspecifiedMatching -OMIM:612533 THAP4 skos:exactMatch ncbigene:51078 semapv:UnspecifiedMatching -OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:23188 semapv:UnspecifiedMatching -OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:THAP5 semapv:UnspecifiedMatching -OMIM:612534 THAP5 skos:exactMatch ncbigene:168451 semapv:UnspecifiedMatching -OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:23189 semapv:UnspecifiedMatching -OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:THAP6 semapv:UnspecifiedMatching -OMIM:612535 THAP6 skos:exactMatch ncbigene:152815 semapv:UnspecifiedMatching -OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:23191 semapv:UnspecifiedMatching -OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:THAP8 semapv:UnspecifiedMatching -OMIM:612536 THAP8 skos:exactMatch ncbigene:199745 semapv:UnspecifiedMatching -OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:23192 semapv:UnspecifiedMatching -OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:THAP9 semapv:UnspecifiedMatching -OMIM:612537 THAP9 skos:exactMatch ncbigene:79725 semapv:UnspecifiedMatching -OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:23193 semapv:UnspecifiedMatching -OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:THAP10 semapv:UnspecifiedMatching -OMIM:612538 THAP10 skos:exactMatch ncbigene:56906 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:178503 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:331176 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching -OMIM:612543 USP36 skos:exactMatch hgnc.symbol:20062 semapv:UnspecifiedMatching -OMIM:612543 USP36 skos:exactMatch hgnc.symbol:USP36 semapv:UnspecifiedMatching -OMIM:612543 USP36 skos:exactMatch ncbigene:57602 semapv:UnspecifiedMatching -OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:19195 semapv:UnspecifiedMatching -OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:ABLIM2 semapv:UnspecifiedMatching -OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching -OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:18289 semapv:UnspecifiedMatching -OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:ABHD11-AS1 semapv:UnspecifiedMatching -OMIM:612545 WBSCR26 skos:exactMatch ncbigene:171022 semapv:UnspecifiedMatching -OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:19068 semapv:UnspecifiedMatching -OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:METTL27 semapv:UnspecifiedMatching -OMIM:612546 METTL27 skos:exactMatch ncbigene:155368 semapv:UnspecifiedMatching -OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:23018 semapv:UnspecifiedMatching -OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:TMEM270 semapv:UnspecifiedMatching -OMIM:612547 TMEM270 skos:exactMatch ncbigene:135886 semapv:UnspecifiedMatching -OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:19017 semapv:UnspecifiedMatching -OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:TRIM50 semapv:UnspecifiedMatching -OMIM:612548 TRIM50 skos:exactMatch ncbigene:135892 semapv:UnspecifiedMatching -OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:18162 semapv:UnspecifiedMatching -OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:TRIM73 semapv:UnspecifiedMatching -OMIM:612549 TRIM73 skos:exactMatch ncbigene:375593 semapv:UnspecifiedMatching -OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:17453 semapv:UnspecifiedMatching -OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:TRIM74 semapv:UnspecifiedMatching -OMIM:612550 TRIM74 skos:exactMatch ncbigene:378108 semapv:UnspecifiedMatching -OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:20721 semapv:UnspecifiedMatching -OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:ZBED4 semapv:UnspecifiedMatching -OMIM:612552 ZBED4 skos:exactMatch ncbigene:9889 semapv:UnspecifiedMatching -OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:31784 semapv:UnspecifiedMatching -OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:MIR370 semapv:UnspecifiedMatching -OMIM:612553 MIR370 skos:exactMatch ncbigene:442915 semapv:UnspecifiedMatching -OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:24110 semapv:UnspecifiedMatching -OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:TXNDC9 semapv:UnspecifiedMatching -OMIM:612564 TXNDC9 skos:exactMatch ncbigene:10190 semapv:UnspecifiedMatching -OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:18370 semapv:UnspecifiedMatching -OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:RAB1B semapv:UnspecifiedMatching -OMIM:612565 RAB1B skos:exactMatch ncbigene:81876 semapv:UnspecifiedMatching -OMIM:612568 SPIC skos:exactMatch hgnc.symbol:29549 semapv:UnspecifiedMatching -OMIM:612568 SPIC skos:exactMatch hgnc.symbol:SPIC semapv:UnspecifiedMatching -OMIM:612568 SPIC skos:exactMatch ncbigene:121599 semapv:UnspecifiedMatching -OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:24236 semapv:UnspecifiedMatching -OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:CCAR1 semapv:UnspecifiedMatching -OMIM:612569 CCAR1 skos:exactMatch ncbigene:55749 semapv:UnspecifiedMatching -OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:3604 semapv:UnspecifiedMatching -OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:FBN2 semapv:UnspecifiedMatching -OMIM:612570 FBN2 skos:exactMatch ncbigene:2201 semapv:UnspecifiedMatching -OMIM:612572 retinitis pigmentosa 46 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:612572 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching -OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:30621 semapv:UnspecifiedMatching -OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:SPNS1 semapv:UnspecifiedMatching -OMIM:612583 SPNS1 skos:exactMatch ncbigene:83985 semapv:UnspecifiedMatching -OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:26992 semapv:UnspecifiedMatching -OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:SPNS2 semapv:UnspecifiedMatching -OMIM:612584 SPNS2 skos:exactMatch ncbigene:124976 semapv:UnspecifiedMatching -OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:24308 semapv:UnspecifiedMatching -OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:CLPTM1L semapv:UnspecifiedMatching -OMIM:612585 CLPTM1L skos:exactMatch ncbigene:81037 semapv:UnspecifiedMatching -OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:16863 semapv:UnspecifiedMatching -OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:BCLAF1 semapv:UnspecifiedMatching -OMIM:612588 BCLAF1 skos:exactMatch ncbigene:9774 semapv:UnspecifiedMatching -OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch UMLS:C2675477 semapv:UnspecifiedMatching -OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:24313 semapv:UnspecifiedMatching -OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:CRTAM semapv:UnspecifiedMatching -OMIM:612597 CRTAM skos:exactMatch ncbigene:56253 semapv:UnspecifiedMatching -OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:10056 semapv:UnspecifiedMatching -OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:RNF11 semapv:UnspecifiedMatching -OMIM:612598 RNF11 skos:exactMatch ncbigene:26994 semapv:UnspecifiedMatching -OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:18485 semapv:UnspecifiedMatching -OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:MRM3 semapv:UnspecifiedMatching -OMIM:612600 RNMTL1 skos:exactMatch ncbigene:55178 semapv:UnspecifiedMatching -OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:16449 semapv:UnspecifiedMatching -OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:RFPL4A semapv:UnspecifiedMatching -OMIM:612601 RFPL4A skos:exactMatch ncbigene:342931 semapv:UnspecifiedMatching -OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:24303 semapv:UnspecifiedMatching -OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:RBM15B semapv:UnspecifiedMatching -OMIM:612602 RBM15B skos:exactMatch ncbigene:29890 semapv:UnspecifiedMatching -OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:29459 semapv:UnspecifiedMatching -OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:LCE1A semapv:UnspecifiedMatching -OMIM:612603 LCE1A skos:exactMatch ncbigene:353131 semapv:UnspecifiedMatching -OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:16611 semapv:UnspecifiedMatching -OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:LCE1B semapv:UnspecifiedMatching -OMIM:612604 LCE1B skos:exactMatch ncbigene:353132 semapv:UnspecifiedMatching -OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:29464 semapv:UnspecifiedMatching -OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:LCE1C semapv:UnspecifiedMatching -OMIM:612605 LCE1C skos:exactMatch ncbigene:353133 semapv:UnspecifiedMatching -OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:29465 semapv:UnspecifiedMatching -OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:LCE1D semapv:UnspecifiedMatching -OMIM:612606 LCE1D skos:exactMatch ncbigene:353134 semapv:UnspecifiedMatching -OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:29466 semapv:UnspecifiedMatching -OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:LCE1E semapv:UnspecifiedMatching -OMIM:612607 LCE1E skos:exactMatch ncbigene:353135 semapv:UnspecifiedMatching -OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:29467 semapv:UnspecifiedMatching -OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:LCE1F semapv:UnspecifiedMatching -OMIM:612608 LCE1F skos:exactMatch ncbigene:353137 semapv:UnspecifiedMatching -OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:29469 semapv:UnspecifiedMatching -OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:LCE2A semapv:UnspecifiedMatching -OMIM:612609 LCE2A skos:exactMatch ncbigene:353139 semapv:UnspecifiedMatching -OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:16610 semapv:UnspecifiedMatching -OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:LCE2B semapv:UnspecifiedMatching -OMIM:612610 LCE2B skos:exactMatch ncbigene:26239 semapv:UnspecifiedMatching -OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:29460 semapv:UnspecifiedMatching -OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:LCE2C semapv:UnspecifiedMatching -OMIM:612611 LCE2C skos:exactMatch ncbigene:353140 semapv:UnspecifiedMatching -OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:16518 semapv:UnspecifiedMatching -OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:LCE2D semapv:UnspecifiedMatching -OMIM:612612 LCE2D skos:exactMatch ncbigene:353141 semapv:UnspecifiedMatching -OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:29461 semapv:UnspecifiedMatching -OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:LCE3A semapv:UnspecifiedMatching -OMIM:612613 LCE3A skos:exactMatch ncbigene:353142 semapv:UnspecifiedMatching -OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:29462 semapv:UnspecifiedMatching -OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:LCE3B semapv:UnspecifiedMatching -OMIM:612614 LCE3B skos:exactMatch ncbigene:353143 semapv:UnspecifiedMatching -OMIM:612615 LCE3C skos:exactMatch UMLS:C1537542 semapv:UnspecifiedMatching -OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:16612 semapv:UnspecifiedMatching -OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:LCE3C semapv:UnspecifiedMatching -OMIM:612615 LCE3C skos:exactMatch ncbigene:353144 semapv:UnspecifiedMatching -OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:16615 semapv:UnspecifiedMatching -OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:LCE3D semapv:UnspecifiedMatching -OMIM:612616 LCE3D skos:exactMatch ncbigene:84648 semapv:UnspecifiedMatching -OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:29463 semapv:UnspecifiedMatching -OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:LCE3E semapv:UnspecifiedMatching -OMIM:612617 LCE3E skos:exactMatch ncbigene:353145 semapv:UnspecifiedMatching -OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:16613 semapv:UnspecifiedMatching -OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:LCE4A semapv:UnspecifiedMatching -OMIM:612618 LCE4A skos:exactMatch ncbigene:199834 semapv:UnspecifiedMatching -OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:16614 semapv:UnspecifiedMatching -OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:LCE5A semapv:UnspecifiedMatching -OMIM:612619 LCE5A skos:exactMatch ncbigene:254910 semapv:UnspecifiedMatching -OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:20796 semapv:UnspecifiedMatching -OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:RASSF6 semapv:UnspecifiedMatching -OMIM:612620 RASSF6 skos:exactMatch ncbigene:166824 semapv:UnspecifiedMatching -OMIM:612622 iia 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching -OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:23038 semapv:UnspecifiedMatching -OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:LMBRD1 semapv:UnspecifiedMatching -OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch ncbigene:55788 semapv:UnspecifiedMatching -OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:26582 semapv:UnspecifiedMatching -OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:UNC80 semapv:UnspecifiedMatching -OMIM:612636 UNC80 skos:exactMatch ncbigene:285175 semapv:UnspecifiedMatching -OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:20371 semapv:UnspecifiedMatching -OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:NDUFA11 semapv:UnspecifiedMatching -OMIM:612638 NDUFA11 skos:exactMatch ncbigene:126328 semapv:UnspecifiedMatching -OMIM:612640 TBATA skos:exactMatch hgnc.symbol:23511 semapv:UnspecifiedMatching -OMIM:612640 TBATA skos:exactMatch hgnc.symbol:TBATA semapv:UnspecifiedMatching -OMIM:612640 TBATA skos:exactMatch ncbigene:219793 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C1412402 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017274 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017275 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017276 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017277 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch UMLS:C4017278 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:492 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:ANK1 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch ncbigene:286 semapv:UnspecifiedMatching -OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:30215 semapv:UnspecifiedMatching -OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:MACC1 semapv:UnspecifiedMatching -OMIM:612646 MACC1 skos:exactMatch ncbigene:346389 semapv:UnspecifiedMatching -OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:21558 semapv:UnspecifiedMatching -OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:RSPH4A semapv:UnspecifiedMatching -OMIM:612647 RSPH4A skos:exactMatch ncbigene:345895 semapv:UnspecifiedMatching -OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:21057 semapv:UnspecifiedMatching -OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:RSPH9 semapv:UnspecifiedMatching -OMIM:612648 RSPH9 skos:exactMatch ncbigene:221421 semapv:UnspecifiedMatching -OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch Orphanet:199332 semapv:UnspecifiedMatching -OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching -OMIM:612654 TCHP skos:exactMatch hgnc.symbol:28135 semapv:UnspecifiedMatching -OMIM:612654 TCHP skos:exactMatch hgnc.symbol:TCHP semapv:UnspecifiedMatching -OMIM:612654 TCHP skos:exactMatch ncbigene:84260 semapv:UnspecifiedMatching -OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:21066 semapv:UnspecifiedMatching -OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:TBC1D7 semapv:UnspecifiedMatching -OMIM:612655 TBC1D7 skos:exactMatch ncbigene:51256 semapv:UnspecifiedMatching -OMIM:612657 cone-rod dystrophy 12 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching -OMIM:612657 cone-rod dystrophy 12 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching -OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:17949 semapv:UnspecifiedMatching -OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:TJAP1 semapv:UnspecifiedMatching -OMIM:612658 TJAP1 skos:exactMatch ncbigene:93643 semapv:UnspecifiedMatching -OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:21478 semapv:UnspecifiedMatching -OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:RFX6 semapv:UnspecifiedMatching -OMIM:612659 RFX6 skos:exactMatch ncbigene:222546 semapv:UnspecifiedMatching -OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:25777 semapv:UnspecifiedMatching -OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:RFX7 semapv:UnspecifiedMatching -OMIM:612660 RFX7 skos:exactMatch ncbigene:64864 semapv:UnspecifiedMatching -OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:25522 semapv:UnspecifiedMatching -OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:WRAP53 semapv:UnspecifiedMatching -OMIM:612661 WRAP53 skos:exactMatch ncbigene:55135 semapv:UnspecifiedMatching -OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:25694 semapv:UnspecifiedMatching -OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:TBC1D15 semapv:UnspecifiedMatching -OMIM:612662 TBC1D15 skos:exactMatch ncbigene:64786 semapv:UnspecifiedMatching -OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:34024 semapv:UnspecifiedMatching -OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:TIFAB semapv:UnspecifiedMatching -OMIM:612663 TIFAB skos:exactMatch ncbigene:497189 semapv:UnspecifiedMatching -OMIM:612664 RERG skos:exactMatch hgnc.symbol:15980 semapv:UnspecifiedMatching -OMIM:612664 RERG skos:exactMatch hgnc.symbol:RERG semapv:UnspecifiedMatching -OMIM:612664 RERG skos:exactMatch ncbigene:85004 semapv:UnspecifiedMatching -OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:30722 semapv:UnspecifiedMatching -OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:TEX101 semapv:UnspecifiedMatching -OMIM:612665 TEX101 skos:exactMatch ncbigene:83639 semapv:UnspecifiedMatching -OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:29043 semapv:UnspecifiedMatching -OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:DSTYK semapv:UnspecifiedMatching -OMIM:612666 DSTYK skos:exactMatch ncbigene:25778 semapv:UnspecifiedMatching -OMIM:612667 HJURP skos:exactMatch hgnc.symbol:25444 semapv:UnspecifiedMatching -OMIM:612667 HJURP skos:exactMatch hgnc.symbol:HJURP semapv:UnspecifiedMatching -OMIM:612667 HJURP skos:exactMatch ncbigene:55355 semapv:UnspecifiedMatching -OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:18875 semapv:UnspecifiedMatching -OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:TAS2R43 semapv:UnspecifiedMatching -OMIM:612668 TAS2R43 skos:exactMatch ncbigene:259289 semapv:UnspecifiedMatching -OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:19113 semapv:UnspecifiedMatching -OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:TAS2R31 semapv:UnspecifiedMatching -OMIM:612669 TAS2R31 skos:exactMatch ncbigene:259290 semapv:UnspecifiedMatching -OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:9759 semapv:UnspecifiedMatching -OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:RAB10 semapv:UnspecifiedMatching -OMIM:612672 RAB10 skos:exactMatch ncbigene:10890 semapv:UnspecifiedMatching -OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:16524 semapv:UnspecifiedMatching -OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:RAB14 semapv:UnspecifiedMatching -OMIM:612673 RAB14 skos:exactMatch ncbigene:51552 semapv:UnspecifiedMatching -OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch Orphanet:171848 semapv:UnspecifiedMatching -OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching -OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:32572 semapv:UnspecifiedMatching -OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:SCARNA15 semapv:UnspecifiedMatching -OMIM:612675 SCARNA15 skos:exactMatch ncbigene:677778 semapv:UnspecifiedMatching -OMIM:612676 QDPR skos:exactMatch hgnc.symbol:9752 semapv:UnspecifiedMatching -OMIM:612676 QDPR skos:exactMatch hgnc.symbol:QDPR semapv:UnspecifiedMatching -OMIM:612676 QDPR skos:exactMatch ncbigene:5860 semapv:UnspecifiedMatching -OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:28894 semapv:UnspecifiedMatching -OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:PYHIN1 semapv:UnspecifiedMatching -OMIM:612677 PYHIN1 skos:exactMatch ncbigene:149628 semapv:UnspecifiedMatching -OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:11967 semapv:UnspecifiedMatching -OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:CELF3 semapv:UnspecifiedMatching -OMIM:612678 CELF3 skos:exactMatch ncbigene:11189 semapv:UnspecifiedMatching -OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:14015 semapv:UnspecifiedMatching -OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:CELF4 semapv:UnspecifiedMatching -OMIM:612679 CELF4 skos:exactMatch ncbigene:56853 semapv:UnspecifiedMatching -OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:14058 semapv:UnspecifiedMatching -OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:CELF5 semapv:UnspecifiedMatching -OMIM:612680 CELF5 skos:exactMatch ncbigene:60680 semapv:UnspecifiedMatching -OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:14059 semapv:UnspecifiedMatching -OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:CELF6 semapv:UnspecifiedMatching -OMIM:612681 CELF6 skos:exactMatch ncbigene:60677 semapv:UnspecifiedMatching -OMIM:612682 DRAXIN skos:exactMatch UMLS:C1823801 semapv:UnspecifiedMatching -OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:25054 semapv:UnspecifiedMatching -OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:DRAXIN semapv:UnspecifiedMatching -OMIM:612682 DRAXIN skos:exactMatch ncbigene:374946 semapv:UnspecifiedMatching -OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:14293 semapv:UnspecifiedMatching -OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:TEKT3 semapv:UnspecifiedMatching -OMIM:612683 TEKT3 skos:exactMatch ncbigene:64518 semapv:UnspecifiedMatching -OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:23176 semapv:UnspecifiedMatching -OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:ISM2 semapv:UnspecifiedMatching -OMIM:612684 ISM2 skos:exactMatch ncbigene:145501 semapv:UnspecifiedMatching -OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:29307 semapv:UnspecifiedMatching -OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:CAMSAP3 semapv:UnspecifiedMatching -OMIM:612685 CAMSAP3 skos:exactMatch ncbigene:57662 semapv:UnspecifiedMatching -OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:27049 semapv:UnspecifiedMatching -OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:PLEKHA7 semapv:UnspecifiedMatching -OMIM:612686 PLEKHA7 skos:exactMatch ncbigene:144100 semapv:UnspecifiedMatching -OMIM:612687 RGMB skos:exactMatch hgnc.symbol:26896 semapv:UnspecifiedMatching -OMIM:612687 RGMB skos:exactMatch hgnc.symbol:RGMB semapv:UnspecifiedMatching -OMIM:612687 RGMB skos:exactMatch ncbigene:285704 semapv:UnspecifiedMatching -OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:26661 semapv:UnspecifiedMatching -OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:RNF168 semapv:UnspecifiedMatching -OMIM:612688 RNF168 skos:exactMatch ncbigene:165918 semapv:UnspecifiedMatching -OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:11829 semapv:UnspecifiedMatching -OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:TJP3 semapv:UnspecifiedMatching -OMIM:612689 TJP3 skos:exactMatch ncbigene:27134 semapv:UnspecifiedMatching -OMIM:612693 URM1 skos:exactMatch hgnc.symbol:28378 semapv:UnspecifiedMatching -OMIM:612693 URM1 skos:exactMatch hgnc.symbol:URM1 semapv:UnspecifiedMatching -OMIM:612693 URM1 skos:exactMatch ncbigene:81605 semapv:UnspecifiedMatching -OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:29590 semapv:UnspecifiedMatching -OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:CTU1 semapv:UnspecifiedMatching -OMIM:612694 CTU1 skos:exactMatch ncbigene:90353 semapv:UnspecifiedMatching -OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:12654 semapv:UnspecifiedMatching -OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:VTRNA1-1 semapv:UnspecifiedMatching -OMIM:612695 VTRNA1-1 skos:exactMatch ncbigene:56664 semapv:UnspecifiedMatching -OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:12655 semapv:UnspecifiedMatching -OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:VTRNA1-2 semapv:UnspecifiedMatching -OMIM:612696 VTRNA1-2 skos:exactMatch ncbigene:56663 semapv:UnspecifiedMatching -OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:12656 semapv:UnspecifiedMatching -OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:VTRNA1-3 semapv:UnspecifiedMatching -OMIM:612697 VTRNA1-3 skos:exactMatch ncbigene:56662 semapv:UnspecifiedMatching -OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:31558 semapv:UnspecifiedMatching -OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:MIR187 semapv:UnspecifiedMatching -OMIM:612698 MIR187 skos:exactMatch ncbigene:406963 semapv:UnspecifiedMatching -OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:29344 semapv:UnspecifiedMatching -OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:RIMBP3 semapv:UnspecifiedMatching -OMIM:612699 RIMBP3 skos:exactMatch ncbigene:85376 semapv:UnspecifiedMatching -OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:33891 semapv:UnspecifiedMatching -OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:RIMBP3B semapv:UnspecifiedMatching -OMIM:612700 RIMBP3B skos:exactMatch ncbigene:440804 semapv:UnspecifiedMatching -OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:33892 semapv:UnspecifiedMatching -OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:RIMBP3C semapv:UnspecifiedMatching -OMIM:612701 RIMBP3C skos:exactMatch ncbigene:150221 semapv:UnspecifiedMatching -OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:32414 semapv:UnspecifiedMatching -OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:RGPD1 semapv:UnspecifiedMatching -OMIM:612704 RGPD1 skos:exactMatch ncbigene:400966 semapv:UnspecifiedMatching -OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:32415 semapv:UnspecifiedMatching -OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:RGPD2 semapv:UnspecifiedMatching -OMIM:612705 RGPD2 skos:exactMatch ncbigene:729857 semapv:UnspecifiedMatching -OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:32416 semapv:UnspecifiedMatching -OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:RGPD3 semapv:UnspecifiedMatching -OMIM:612706 RGPD3 skos:exactMatch ncbigene:653489 semapv:UnspecifiedMatching -OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:32417 semapv:UnspecifiedMatching -OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:RGPD4 semapv:UnspecifiedMatching -OMIM:612707 RGPD4 skos:exactMatch ncbigene:285190 semapv:UnspecifiedMatching -OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:32418 semapv:UnspecifiedMatching -OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:RGPD5 semapv:UnspecifiedMatching -OMIM:612708 RGPD5 skos:exactMatch ncbigene:84220 semapv:UnspecifiedMatching -OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:32419 semapv:UnspecifiedMatching -OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:RGPD6 semapv:UnspecifiedMatching -OMIM:612709 RGPD6 skos:exactMatch ncbigene:729540 semapv:UnspecifiedMatching -OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:23218 semapv:UnspecifiedMatching -OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:GCC2 semapv:UnspecifiedMatching -OMIM:612711 GCC2 skos:exactMatch ncbigene:9648 semapv:UnspecifiedMatching -OMIM:612719 PTS skos:exactMatch hgnc.symbol:9689 semapv:UnspecifiedMatching -OMIM:612719 PTS skos:exactMatch hgnc.symbol:PTS semapv:UnspecifiedMatching -OMIM:612719 PTS skos:exactMatch ncbigene:5805 semapv:UnspecifiedMatching -OMIM:612720 DHX29 skos:exactMatch UMLS:C1423751 semapv:UnspecifiedMatching -OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:15815 semapv:UnspecifiedMatching -OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:DHX29 semapv:UnspecifiedMatching -OMIM:612720 DHX29 skos:exactMatch ncbigene:54505 semapv:UnspecifiedMatching -OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:33762 semapv:UnspecifiedMatching -OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:RESP18 semapv:UnspecifiedMatching -OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch ncbigene:389075 semapv:UnspecifiedMatching -OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:20696 semapv:UnspecifiedMatching -OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:ELP3 semapv:UnspecifiedMatching -OMIM:612722 ELP3 skos:exactMatch ncbigene:55140 semapv:UnspecifiedMatching -OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:30506 semapv:UnspecifiedMatching -OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:PLEKHH2 semapv:UnspecifiedMatching -OMIM:612723 PLEKHH2 skos:exactMatch ncbigene:130271 semapv:UnspecifiedMatching -OMIM:612724 ALDOB skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching -OMIM:612724 ALDOB skos:exactMatch UMLS:C1412347 semapv:UnspecifiedMatching -OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:417 semapv:UnspecifiedMatching -OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:ALDOB semapv:UnspecifiedMatching -OMIM:612724 ALDOB skos:exactMatch ncbigene:229 semapv:UnspecifiedMatching -OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:9323 semapv:UnspecifiedMatching -OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:PPP6C semapv:UnspecifiedMatching -OMIM:612725 PPP6C skos:exactMatch ncbigene:5537 semapv:UnspecifiedMatching -OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:20728 semapv:UnspecifiedMatching -OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:SLC9A8 semapv:UnspecifiedMatching -OMIM:612730 SLC9A8 skos:exactMatch ncbigene:23315 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch UMLS:C0342856 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch UMLS:C1413681 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch UMLS:C4017281 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch hgnc.symbol:2321 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch hgnc.symbol:CPOX semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch ncbigene:1371 semapv:UnspecifiedMatching -OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:19074 semapv:UnspecifiedMatching -OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:THOC5 semapv:UnspecifiedMatching -OMIM:612733 THOC5 skos:exactMatch ncbigene:8563 semapv:UnspecifiedMatching -OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:37183 semapv:UnspecifiedMatching -OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:TLX1NB semapv:UnspecifiedMatching -OMIM:612734 TLX1NB skos:exactMatch ncbigene:100038246 semapv:UnspecifiedMatching -OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:4951 semapv:UnspecifiedMatching -OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:HLA-DRB3 semapv:UnspecifiedMatching -OMIM:612735 HLA-DRB3 skos:exactMatch ncbigene:3125 semapv:UnspecifiedMatching -OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching -OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching -OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:31401 semapv:UnspecifiedMatching -OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:SLC9C1 semapv:UnspecifiedMatching -OMIM:612738 SLC9A10 skos:exactMatch ncbigene:285335 semapv:UnspecifiedMatching -OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:14967 semapv:UnspecifiedMatching -OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:SPACA1 semapv:UnspecifiedMatching -OMIM:612739 SPACA1 skos:exactMatch ncbigene:81833 semapv:UnspecifiedMatching -OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:18411 semapv:UnspecifiedMatching -OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:SNAI3 semapv:UnspecifiedMatching -OMIM:612741 SNAI3 skos:exactMatch ncbigene:333929 semapv:UnspecifiedMatching -OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:31590 semapv:UnspecifiedMatching -OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:MIR181A1 semapv:UnspecifiedMatching -OMIM:612742 MIR181A1 skos:exactMatch ncbigene:406995 semapv:UnspecifiedMatching -OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:31549 semapv:UnspecifiedMatching -OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:MIR181A2 semapv:UnspecifiedMatching -OMIM:612743 MIR181A2 skos:exactMatch ncbigene:406954 semapv:UnspecifiedMatching -OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:31550 semapv:UnspecifiedMatching -OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:MIR181B1 semapv:UnspecifiedMatching -OMIM:612744 MIR181B1 skos:exactMatch ncbigene:406955 semapv:UnspecifiedMatching -OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:31551 semapv:UnspecifiedMatching -OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:MIR181B2 semapv:UnspecifiedMatching -OMIM:612745 MIR181B2 skos:exactMatch ncbigene:406956 semapv:UnspecifiedMatching -OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:31552 semapv:UnspecifiedMatching -OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:MIR181C semapv:UnspecifiedMatching -OMIM:612746 MIR181C skos:exactMatch ncbigene:406957 semapv:UnspecifiedMatching -OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:17165 semapv:UnspecifiedMatching -OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:TFIP11 semapv:UnspecifiedMatching -OMIM:612747 TFIP11 skos:exactMatch ncbigene:24144 semapv:UnspecifiedMatching -OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:29613 semapv:UnspecifiedMatching -OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:LYZL2 semapv:UnspecifiedMatching -OMIM:612748 LYZL2 skos:exactMatch ncbigene:119180 semapv:UnspecifiedMatching -OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:16260 semapv:UnspecifiedMatching -OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:SPACA3 semapv:UnspecifiedMatching -OMIM:612749 SPACA3 skos:exactMatch ncbigene:124912 semapv:UnspecifiedMatching -OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:28387 semapv:UnspecifiedMatching -OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:LYZL4 semapv:UnspecifiedMatching -OMIM:612750 LYZL4 skos:exactMatch ncbigene:131375 semapv:UnspecifiedMatching -OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:29614 semapv:UnspecifiedMatching -OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:LYZL6 semapv:UnspecifiedMatching -OMIM:612751 LYZL6 skos:exactMatch ncbigene:57151 semapv:UnspecifiedMatching -OMIM:612752 CXXC5 skos:exactMatch hgnc.symbol:26943 semapv:UnspecifiedMatching -OMIM:612752 CXXC5 skos:exactMatch hgnc.symbol:CXXC5 semapv:UnspecifiedMatching -OMIM:612752 CXXC5 skos:exactMatch ncbigene:51523 semapv:UnspecifiedMatching -OMIM:612753 CCBE1 skos:exactMatch hgnc.symbol:29426 semapv:UnspecifiedMatching -OMIM:612753 CCBE1 skos:exactMatch hgnc.symbol:CCBE1 semapv:UnspecifiedMatching -OMIM:612753 CCBE1 skos:exactMatch ncbigene:147372 semapv:UnspecifiedMatching -OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:15987 semapv:UnspecifiedMatching -OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:GLRX3 semapv:UnspecifiedMatching -OMIM:612754 GLRX3 skos:exactMatch ncbigene:10539 semapv:UnspecifiedMatching -OMIM:612755 NAA25 skos:exactMatch UMLS:C1824351 semapv:UnspecifiedMatching -OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:25783 semapv:UnspecifiedMatching -OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:NAA25 semapv:UnspecifiedMatching -OMIM:612755 NAA25 skos:exactMatch ncbigene:80018 semapv:UnspecifiedMatching -OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:30707 semapv:UnspecifiedMatching -OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:TCAM1P semapv:UnspecifiedMatching -OMIM:612756 TCAM1 skos:exactMatch ncbigene:146771 semapv:UnspecifiedMatching -OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:24945 semapv:UnspecifiedMatching -OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:GPIHBP1 semapv:UnspecifiedMatching -OMIM:612757 GPIHBP1 skos:exactMatch ncbigene:338328 semapv:UnspecifiedMatching -OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:26887 semapv:UnspecifiedMatching -OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:TAPT1 semapv:UnspecifiedMatching -OMIM:612758 TAPT1 skos:exactMatch ncbigene:202018 semapv:UnspecifiedMatching -OMIM:612760 SNRK skos:exactMatch hgnc.symbol:30598 semapv:UnspecifiedMatching -OMIM:612760 SNRK skos:exactMatch hgnc.symbol:SNRK semapv:UnspecifiedMatching -OMIM:612760 SNRK skos:exactMatch ncbigene:54861 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406767 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1425496 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1852150 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:18398 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:SMARCAD1 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch ncbigene:56916 semapv:UnspecifiedMatching -OMIM:612762 SUPT7L skos:exactMatch UMLS:C1823153 semapv:UnspecifiedMatching -OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:30632 semapv:UnspecifiedMatching -OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:SUPT7L semapv:UnspecifiedMatching -OMIM:612762 SUPT7L skos:exactMatch ncbigene:9913 semapv:UnspecifiedMatching -OMIM:612763 TADA1L skos:exactMatch hgnc.symbol:30631 semapv:UnspecifiedMatching -OMIM:612763 TADA1L skos:exactMatch hgnc.symbol:TADA1 semapv:UnspecifiedMatching -OMIM:612763 TADA1L skos:exactMatch ncbigene:117143 semapv:UnspecifiedMatching -OMIM:612764 ISY1 skos:exactMatch hgnc.symbol:29201 semapv:UnspecifiedMatching -OMIM:612764 ISY1 skos:exactMatch hgnc.symbol:ISY1 semapv:UnspecifiedMatching -OMIM:612764 ISY1 skos:exactMatch ncbigene:57461 semapv:UnspecifiedMatching -OMIM:612765 SFI1 skos:exactMatch UMLS:C1539759 semapv:UnspecifiedMatching -OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:29064 semapv:UnspecifiedMatching -OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:SFI1 semapv:UnspecifiedMatching -OMIM:612765 SFI1 skos:exactMatch ncbigene:9814 semapv:UnspecifiedMatching -OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:25008 semapv:UnspecifiedMatching -OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:BABAM1 semapv:UnspecifiedMatching -OMIM:612766 BABAM1 skos:exactMatch ncbigene:29086 semapv:UnspecifiedMatching -OMIM:612767 DHX36 skos:exactMatch UMLS:C1422629 semapv:UnspecifiedMatching -OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:14410 semapv:UnspecifiedMatching -OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:DHX36 semapv:UnspecifiedMatching -OMIM:612767 DHX36 skos:exactMatch ncbigene:170506 semapv:UnspecifiedMatching -OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:29280 semapv:UnspecifiedMatching -OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:FNIP2 semapv:UnspecifiedMatching -OMIM:612768 FNIP2 skos:exactMatch ncbigene:57600 semapv:UnspecifiedMatching -OMIM:612769 NEAT1 skos:exactMatch UMLS:C2681866 semapv:UnspecifiedMatching -OMIM:612769 NEAT1 skos:exactMatch hgnc.symbol:30815 semapv:UnspecifiedMatching -OMIM:612769 NEAT1 skos:exactMatch hgnc.symbol:NEAT1 semapv:UnspecifiedMatching -OMIM:612769 NEAT1 skos:exactMatch ncbigene:283131 semapv:UnspecifiedMatching -OMIM:612770 PISD skos:exactMatch UMLS:C1418591 semapv:UnspecifiedMatching -OMIM:612770 PISD skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching -OMIM:612770 PISD skos:exactMatch hgnc.symbol:8999 semapv:UnspecifiedMatching -OMIM:612770 PISD skos:exactMatch hgnc.symbol:PISD semapv:UnspecifiedMatching -OMIM:612770 PISD skos:exactMatch ncbigene:23761 semapv:UnspecifiedMatching -OMIM:612771 DUOXA1 skos:exactMatch hgnc.symbol:26507 semapv:UnspecifiedMatching -OMIM:612771 DUOXA1 skos:exactMatch hgnc.symbol:DUOXA1 semapv:UnspecifiedMatching -OMIM:612771 DUOXA1 skos:exactMatch ncbigene:90527 semapv:UnspecifiedMatching -OMIM:612772 DUOXA2 skos:exactMatch hgnc.symbol:32698 semapv:UnspecifiedMatching -OMIM:612772 DUOXA2 skos:exactMatch hgnc.symbol:DUOXA2 semapv:UnspecifiedMatching -OMIM:612772 DUOXA2 skos:exactMatch ncbigene:405753 semapv:UnspecifiedMatching -OMIM:612773 BCAM skos:exactMatch hgnc.symbol:6722 semapv:UnspecifiedMatching -OMIM:612773 BCAM skos:exactMatch hgnc.symbol:BCAM semapv:UnspecifiedMatching -OMIM:612773 BCAM skos:exactMatch ncbigene:4059 semapv:UnspecifiedMatching -OMIM:612774 TAS2R46 skos:exactMatch hgnc.symbol:18877 semapv:UnspecifiedMatching -OMIM:612774 TAS2R46 skos:exactMatch hgnc.symbol:TAS2R46 semapv:UnspecifiedMatching -OMIM:612774 TAS2R46 skos:exactMatch ncbigene:259292 semapv:UnspecifiedMatching -OMIM:612778 SETD2 skos:exactMatch hgnc.symbol:18420 semapv:UnspecifiedMatching -OMIM:612778 SETD2 skos:exactMatch hgnc.symbol:SETD2 semapv:UnspecifiedMatching -OMIM:612778 SETD2 skos:exactMatch ncbigene:29072 semapv:UnspecifiedMatching -OMIM:612779 DPYD skos:exactMatch hgnc.symbol:3012 semapv:UnspecifiedMatching -OMIM:612779 DPYD skos:exactMatch hgnc.symbol:DPYD semapv:UnspecifiedMatching -OMIM:612779 DPYD skos:exactMatch ncbigene:1806 semapv:UnspecifiedMatching -OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc.symbol:18418 semapv:UnspecifiedMatching -OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc.symbol:HYPK semapv:UnspecifiedMatching -OMIM:612784 huntingtin-interacting protein k skos:exactMatch ncbigene:25764 semapv:UnspecifiedMatching -OMIM:612786 CCNY skos:exactMatch hgnc.symbol:23354 semapv:UnspecifiedMatching -OMIM:612786 CCNY skos:exactMatch hgnc.symbol:CCNY semapv:UnspecifiedMatching -OMIM:612786 CCNY skos:exactMatch ncbigene:219771 semapv:UnspecifiedMatching -OMIM:612787 PUS10 skos:exactMatch hgnc.symbol:26505 semapv:UnspecifiedMatching -OMIM:612787 PUS10 skos:exactMatch hgnc.symbol:PUS10 semapv:UnspecifiedMatching -OMIM:612787 PUS10 skos:exactMatch ncbigene:150962 semapv:UnspecifiedMatching -OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:20951 semapv:UnspecifiedMatching -OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:FOXQ1 semapv:UnspecifiedMatching -OMIM:612788 FOXQ1 skos:exactMatch ncbigene:94234 semapv:UnspecifiedMatching -OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:30322 semapv:UnspecifiedMatching -OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:ARHGEF28 semapv:UnspecifiedMatching -OMIM:612790 ARHGEF28 skos:exactMatch ncbigene:64283 semapv:UnspecifiedMatching -OMIM:612791 ZKSCAN3 skos:exactMatch hgnc.symbol:13853 semapv:UnspecifiedMatching -OMIM:612791 ZKSCAN3 skos:exactMatch hgnc.symbol:ZKSCAN3 semapv:UnspecifiedMatching -OMIM:612791 ZKSCAN3 skos:exactMatch ncbigene:80317 semapv:UnspecifiedMatching -OMIM:612792 PTDSS1 skos:exactMatch hgnc.symbol:9587 semapv:UnspecifiedMatching -OMIM:612792 PTDSS1 skos:exactMatch hgnc.symbol:PTDSS1 semapv:UnspecifiedMatching -OMIM:612792 PTDSS1 skos:exactMatch ncbigene:9791 semapv:UnspecifiedMatching -OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:15463 semapv:UnspecifiedMatching -OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:PTDSS2 semapv:UnspecifiedMatching -OMIM:612793 PTDSS2 skos:exactMatch ncbigene:81490 semapv:UnspecifiedMatching -OMIM:612799 EARS2 skos:exactMatch UMLS:C1825021 semapv:UnspecifiedMatching -OMIM:612799 EARS2 skos:exactMatch UMLS:C3554079 semapv:UnspecifiedMatching -OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:29419 semapv:UnspecifiedMatching -OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:EARS2 semapv:UnspecifiedMatching -OMIM:612799 EARS2 skos:exactMatch ncbigene:124454 semapv:UnspecifiedMatching -OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:25695 semapv:UnspecifiedMatching -OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:CARS2 semapv:UnspecifiedMatching -OMIM:612800 CARS2 skos:exactMatch ncbigene:79587 semapv:UnspecifiedMatching -OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:29685 semapv:UnspecifiedMatching -OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:IARS2 semapv:UnspecifiedMatching -OMIM:612801 IARS2 skos:exactMatch ncbigene:55699 semapv:UnspecifiedMatching -OMIM:612802 VARS2 skos:exactMatch UMLS:C1823614 semapv:UnspecifiedMatching -OMIM:612802 VARS2 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching -OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:21642 semapv:UnspecifiedMatching -OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:VARS2 semapv:UnspecifiedMatching -OMIM:612802 VARS2 skos:exactMatch ncbigene:57176 semapv:UnspecifiedMatching -OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:26274 semapv:UnspecifiedMatching -OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:NARS2 semapv:UnspecifiedMatching -OMIM:612803 NARS2 skos:exactMatch ncbigene:79731 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch UMLS:C1425041 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:17697 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:SARS2 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch ncbigene:54938 semapv:UnspecifiedMatching -OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:30740 semapv:UnspecifiedMatching -OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:TARS2 semapv:UnspecifiedMatching -OMIM:612805 TARS2 skos:exactMatch ncbigene:80222 semapv:UnspecifiedMatching -OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:13840 semapv:UnspecifiedMatching -OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:GPR89B semapv:UnspecifiedMatching -OMIM:612806 GPR89B skos:exactMatch ncbigene:51463 semapv:UnspecifiedMatching -OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:29290 semapv:UnspecifiedMatching -OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:LRFN1 semapv:UnspecifiedMatching -OMIM:612807 LRFN1 skos:exactMatch ncbigene:57622 semapv:UnspecifiedMatching -OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:21226 semapv:UnspecifiedMatching -OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:LRFN2 semapv:UnspecifiedMatching -OMIM:612808 LRFN2 skos:exactMatch ncbigene:57497 semapv:UnspecifiedMatching -OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:28370 semapv:UnspecifiedMatching -OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:LRFN3 semapv:UnspecifiedMatching -OMIM:612809 LRFN3 skos:exactMatch ncbigene:79414 semapv:UnspecifiedMatching -OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:28456 semapv:UnspecifiedMatching -OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:LRFN4 semapv:UnspecifiedMatching -OMIM:612810 LRFN4 skos:exactMatch ncbigene:78999 semapv:UnspecifiedMatching -OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:20360 semapv:UnspecifiedMatching -OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:LRFN5 semapv:UnspecifiedMatching -OMIM:612811 LRFN5 skos:exactMatch ncbigene:145581 semapv:UnspecifiedMatching -OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:18627 semapv:UnspecifiedMatching -OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:PFN3 semapv:UnspecifiedMatching -OMIM:612812 PFN3 skos:exactMatch ncbigene:345456 semapv:UnspecifiedMatching -OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:29579 semapv:UnspecifiedMatching -OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:SPATA18 semapv:UnspecifiedMatching -OMIM:612814 SPATA18 skos:exactMatch ncbigene:132671 semapv:UnspecifiedMatching -OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:18413 semapv:UnspecifiedMatching -OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:ZDHHC13 semapv:UnspecifiedMatching -OMIM:612815 ZDHHC13 skos:exactMatch ncbigene:54503 semapv:UnspecifiedMatching -OMIM:612816 UTP18 skos:exactMatch UMLS:C1823611 semapv:UnspecifiedMatching -OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:24274 semapv:UnspecifiedMatching -OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:UTP18 semapv:UnspecifiedMatching -OMIM:612816 UTP18 skos:exactMatch ncbigene:51096 semapv:UnspecifiedMatching -OMIM:612817 KRR1 skos:exactMatch UMLS:C1825740 semapv:UnspecifiedMatching -OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:5176 semapv:UnspecifiedMatching -OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:KRR1 semapv:UnspecifiedMatching -OMIM:612817 KRR1 skos:exactMatch ncbigene:11103 semapv:UnspecifiedMatching -OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:18538 semapv:UnspecifiedMatching -OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:NUSAP1 semapv:UnspecifiedMatching -OMIM:612818 NUSAP1 skos:exactMatch ncbigene:51203 semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch UMLS:C1826447 semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:28461 semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:NOC4L semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch ncbigene:79050 semapv:UnspecifiedMatching -OMIM:612820 NPTN skos:exactMatch hgnc.symbol:17867 semapv:UnspecifiedMatching -OMIM:612820 NPTN skos:exactMatch hgnc.symbol:NPTN semapv:UnspecifiedMatching -OMIM:612820 NPTN skos:exactMatch ncbigene:27020 semapv:UnspecifiedMatching -OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:31984 semapv:UnspecifiedMatching -OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:GPR89A semapv:UnspecifiedMatching -OMIM:612821 GPR89A skos:exactMatch ncbigene:653519 semapv:UnspecifiedMatching -OMIM:612822 UTP20 skos:exactMatch UMLS:C1823612 semapv:UnspecifiedMatching -OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:17897 semapv:UnspecifiedMatching -OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:UTP20 semapv:UnspecifiedMatching -OMIM:612822 UTP20 skos:exactMatch ncbigene:27340 semapv:UnspecifiedMatching -OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:28759 semapv:UnspecifiedMatching -OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:TAF1D semapv:UnspecifiedMatching -OMIM:612823 TAF1D skos:exactMatch ncbigene:79101 semapv:UnspecifiedMatching -OMIM:612824 SEC14L3 skos:exactMatch hgnc.symbol:18655 semapv:UnspecifiedMatching -OMIM:612824 SEC14L3 skos:exactMatch hgnc.symbol:SEC14L3 semapv:UnspecifiedMatching -OMIM:612824 SEC14L3 skos:exactMatch ncbigene:266629 semapv:UnspecifiedMatching -OMIM:612825 SEC14L4 skos:exactMatch hgnc.symbol:20627 semapv:UnspecifiedMatching -OMIM:612825 SEC14L4 skos:exactMatch hgnc.symbol:SEC14L4 semapv:UnspecifiedMatching -OMIM:612825 SEC14L4 skos:exactMatch ncbigene:284904 semapv:UnspecifiedMatching -OMIM:612826 SGPP1 skos:exactMatch hgnc.symbol:17720 semapv:UnspecifiedMatching -OMIM:612826 SGPP1 skos:exactMatch hgnc.symbol:SGPP1 semapv:UnspecifiedMatching -OMIM:612826 SGPP1 skos:exactMatch ncbigene:81537 semapv:UnspecifiedMatching -OMIM:612827 SGPP2 skos:exactMatch hgnc.symbol:19953 semapv:UnspecifiedMatching -OMIM:612827 SGPP2 skos:exactMatch hgnc.symbol:SGPP2 semapv:UnspecifiedMatching -OMIM:612827 SGPP2 skos:exactMatch ncbigene:130367 semapv:UnspecifiedMatching -OMIM:612828 CEBPZ skos:exactMatch hgnc.symbol:24218 semapv:UnspecifiedMatching -OMIM:612828 CEBPZ skos:exactMatch hgnc.symbol:CEBPZ semapv:UnspecifiedMatching -OMIM:612828 CEBPZ skos:exactMatch ncbigene:10153 semapv:UnspecifiedMatching -OMIM:612829 RAB3C skos:exactMatch hgnc.symbol:30269 semapv:UnspecifiedMatching -OMIM:612829 RAB3C skos:exactMatch hgnc.symbol:RAB3C semapv:UnspecifiedMatching -OMIM:612829 RAB3C skos:exactMatch ncbigene:115827 semapv:UnspecifiedMatching -OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:17693 semapv:UnspecifiedMatching -OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:DHRS3 semapv:UnspecifiedMatching -OMIM:612830 DHRS3 skos:exactMatch ncbigene:9249 semapv:UnspecifiedMatching -OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:22960 semapv:UnspecifiedMatching -OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:HSD17B11 semapv:UnspecifiedMatching -OMIM:612831 HSD17B11 skos:exactMatch ncbigene:51170 semapv:UnspecifiedMatching -OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:23238 semapv:UnspecifiedMatching -OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:HSD17B14 semapv:UnspecifiedMatching -OMIM:612832 HSD17B14 skos:exactMatch ncbigene:51171 semapv:UnspecifiedMatching -OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:21524 semapv:UnspecifiedMatching -OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:DHRS7 semapv:UnspecifiedMatching -OMIM:612833 DHRS7 skos:exactMatch ncbigene:51635 semapv:UnspecifiedMatching -OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:23697 semapv:UnspecifiedMatching -OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:PHLDB1 semapv:UnspecifiedMatching -OMIM:612834 PHLDB1 skos:exactMatch ncbigene:23187 semapv:UnspecifiedMatching -OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:29185 semapv:UnspecifiedMatching -OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:PLCH1 semapv:UnspecifiedMatching -OMIM:612835 PLCH1 skos:exactMatch ncbigene:23007 semapv:UnspecifiedMatching -OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:29037 semapv:UnspecifiedMatching -OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:PLCH2 semapv:UnspecifiedMatching -OMIM:612836 PLCH2 skos:exactMatch ncbigene:9651 semapv:UnspecifiedMatching -OMIM:612837 COQ9 skos:exactMatch hgnc.symbol:25302 semapv:UnspecifiedMatching -OMIM:612837 COQ9 skos:exactMatch hgnc.symbol:COQ9 semapv:UnspecifiedMatching -OMIM:612837 COQ9 skos:exactMatch ncbigene:57017 semapv:UnspecifiedMatching -OMIM:612839 TET2 skos:exactMatch UMLS:C1825692 semapv:UnspecifiedMatching -OMIM:612839 TET2 skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching -OMIM:612839 TET2 skos:exactMatch hgnc.symbol:25941 semapv:UnspecifiedMatching -OMIM:612839 TET2 skos:exactMatch hgnc.symbol:TET2 semapv:UnspecifiedMatching -OMIM:612839 TET2 skos:exactMatch ncbigene:54790 semapv:UnspecifiedMatching -OMIM:612841 hypotrichosis 5 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching -OMIM:612841 hypotrichosis 5 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching -OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:18229 semapv:UnspecifiedMatching -OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:RASD2 semapv:UnspecifiedMatching -OMIM:612842 RASD2 skos:exactMatch ncbigene:23551 semapv:UnspecifiedMatching -OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:17862 semapv:UnspecifiedMatching -OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:SENP3 semapv:UnspecifiedMatching -OMIM:612844 SENP3 skos:exactMatch ncbigene:26168 semapv:UnspecifiedMatching -OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:28407 semapv:UnspecifiedMatching -OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:SENP5 semapv:UnspecifiedMatching -OMIM:612845 SENP5 skos:exactMatch ncbigene:205564 semapv:UnspecifiedMatching -OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:30402 semapv:UnspecifiedMatching -OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:SENP7 semapv:UnspecifiedMatching -OMIM:612846 SENP7 skos:exactMatch ncbigene:57337 semapv:UnspecifiedMatching -OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:33867 semapv:UnspecifiedMatching -OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:SDHAF1 semapv:UnspecifiedMatching -OMIM:612848 SDHAF1 skos:exactMatch ncbigene:644096 semapv:UnspecifiedMatching -OMIM:612849 USP46 skos:exactMatch hgnc.symbol:20075 semapv:UnspecifiedMatching -OMIM:612849 USP46 skos:exactMatch hgnc.symbol:USP46 semapv:UnspecifiedMatching -OMIM:612849 USP46 skos:exactMatch ncbigene:64854 semapv:UnspecifiedMatching -OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:30829 semapv:UnspecifiedMatching -OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:TUBB2B semapv:UnspecifiedMatching -OMIM:612850 TUBB2B skos:exactMatch ncbigene:347733 semapv:UnspecifiedMatching -OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:29006 semapv:UnspecifiedMatching -OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:SEC16A semapv:UnspecifiedMatching -OMIM:612854 SEC16A skos:exactMatch ncbigene:9919 semapv:UnspecifiedMatching -OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:30301 semapv:UnspecifiedMatching -OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:SEC16B semapv:UnspecifiedMatching -OMIM:612855 SEC16B skos:exactMatch ncbigene:89866 semapv:UnspecifiedMatching -OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:17021 semapv:UnspecifiedMatching -OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:ASTN2 semapv:UnspecifiedMatching -OMIM:612856 ASTN2 skos:exactMatch ncbigene:23245 semapv:UnspecifiedMatching -OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:19255 semapv:UnspecifiedMatching -OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:PLAC9 semapv:UnspecifiedMatching -OMIM:612857 PLAC9 skos:exactMatch ncbigene:219348 semapv:UnspecifiedMatching -OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:26838 semapv:UnspecifiedMatching -OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:TIGIT semapv:UnspecifiedMatching -OMIM:612859 TIGIT skos:exactMatch ncbigene:201633 semapv:UnspecifiedMatching -OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:30249 semapv:UnspecifiedMatching -OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:QSOX2 semapv:UnspecifiedMatching -OMIM:612860 QSOX2 skos:exactMatch ncbigene:169714 semapv:UnspecifiedMatching -OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:26934 semapv:UnspecifiedMatching -OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:NOP16 semapv:UnspecifiedMatching -OMIM:612861 NOP16 skos:exactMatch ncbigene:51491 semapv:UnspecifiedMatching -OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:30038 semapv:UnspecifiedMatching -OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:PLA2G4D semapv:UnspecifiedMatching -OMIM:612864 PLA2G4D skos:exactMatch ncbigene:283748 semapv:UnspecifiedMatching -OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:28711 semapv:UnspecifiedMatching -OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:PIP5KL1 semapv:UnspecifiedMatching -OMIM:612865 PIP5KL1 skos:exactMatch ncbigene:138429 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C1823173 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C4015596 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:28287 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:ALG14 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch ncbigene:199857 semapv:UnspecifiedMatching -OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:29063 semapv:UnspecifiedMatching -OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:ATRNL1 semapv:UnspecifiedMatching -OMIM:612869 ATRNL1 skos:exactMatch ncbigene:26033 semapv:UnspecifiedMatching -OMIM:612870 PHIP skos:exactMatch hgnc.symbol:15673 semapv:UnspecifiedMatching -OMIM:612870 PHIP skos:exactMatch hgnc.symbol:PHIP semapv:UnspecifiedMatching -OMIM:612870 PHIP skos:exactMatch ncbigene:55023 semapv:UnspecifiedMatching -OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:25743 semapv:UnspecifiedMatching -OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:NKAIN1 semapv:UnspecifiedMatching -OMIM:612871 NKAIN1 skos:exactMatch ncbigene:79570 semapv:UnspecifiedMatching -OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:26829 semapv:UnspecifiedMatching -OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:NKAIN3 semapv:UnspecifiedMatching -OMIM:612872 NKAIN3 skos:exactMatch ncbigene:286183 semapv:UnspecifiedMatching -OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:16191 semapv:UnspecifiedMatching -OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:NKAIN4 semapv:UnspecifiedMatching -OMIM:612873 NKAIN4 skos:exactMatch ncbigene:128414 semapv:UnspecifiedMatching -OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:16341 semapv:UnspecifiedMatching -OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:GNRHR2 semapv:UnspecifiedMatching -OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:30578 semapv:UnspecifiedMatching -OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:EXPH5 semapv:UnspecifiedMatching -OMIM:612878 EXPH5 skos:exactMatch ncbigene:23086 semapv:UnspecifiedMatching -OMIM:612879 MAMDC2 skos:exactMatch hgnc.symbol:23673 semapv:UnspecifiedMatching -OMIM:612879 MAMDC2 skos:exactMatch hgnc.symbol:MAMDC2 semapv:UnspecifiedMatching -OMIM:612879 MAMDC2 skos:exactMatch ncbigene:256691 semapv:UnspecifiedMatching -OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:15585 semapv:UnspecifiedMatching -OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:SYTL2 semapv:UnspecifiedMatching -OMIM:612880 SYTL2 skos:exactMatch ncbigene:54843 semapv:UnspecifiedMatching -OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:25589 semapv:UnspecifiedMatching -OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:SEPTIN11 semapv:UnspecifiedMatching -OMIM:612887 SEPT11 skos:exactMatch ncbigene:55752 semapv:UnspecifiedMatching -OMIM:612888 LRRC8B skos:exactMatch hgnc.symbol:30692 semapv:UnspecifiedMatching -OMIM:612888 LRRC8B skos:exactMatch hgnc.symbol:LRRC8B semapv:UnspecifiedMatching -OMIM:612888 LRRC8B skos:exactMatch ncbigene:23507 semapv:UnspecifiedMatching -OMIM:612889 LRRC8C skos:exactMatch hgnc.symbol:25075 semapv:UnspecifiedMatching -OMIM:612889 LRRC8C skos:exactMatch hgnc.symbol:LRRC8C semapv:UnspecifiedMatching -OMIM:612889 LRRC8C skos:exactMatch ncbigene:84230 semapv:UnspecifiedMatching -OMIM:612890 LRRC8D skos:exactMatch hgnc.symbol:16992 semapv:UnspecifiedMatching -OMIM:612890 LRRC8D skos:exactMatch hgnc.symbol:LRRC8D semapv:UnspecifiedMatching -OMIM:612890 LRRC8D skos:exactMatch ncbigene:55144 semapv:UnspecifiedMatching -OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:26272 semapv:UnspecifiedMatching -OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:LRRC8E semapv:UnspecifiedMatching -OMIM:612891 LRRC8E skos:exactMatch ncbigene:80131 semapv:UnspecifiedMatching -OMIM:612895 NXN skos:exactMatch hgnc.symbol:18008 semapv:UnspecifiedMatching -OMIM:612895 NXN skos:exactMatch hgnc.symbol:NXN semapv:UnspecifiedMatching -OMIM:612895 NXN skos:exactMatch ncbigene:64359 semapv:UnspecifiedMatching -OMIM:612896 RDM1 skos:exactMatch hgnc.symbol:19950 semapv:UnspecifiedMatching -OMIM:612896 RDM1 skos:exactMatch hgnc.symbol:RDM1 semapv:UnspecifiedMatching -OMIM:612896 RDM1 skos:exactMatch ncbigene:201299 semapv:UnspecifiedMatching -OMIM:612897 SEPT1 skos:exactMatch hgnc.symbol:2879 semapv:UnspecifiedMatching -OMIM:612897 SEPT1 skos:exactMatch hgnc.symbol:SEPTIN1 semapv:UnspecifiedMatching -OMIM:612897 SEPT1 skos:exactMatch ncbigene:1731 semapv:UnspecifiedMatching -OMIM:612898 COQ4 skos:exactMatch hgnc.symbol:19693 semapv:UnspecifiedMatching -OMIM:612898 COQ4 skos:exactMatch hgnc.symbol:COQ4 semapv:UnspecifiedMatching -OMIM:612898 COQ4 skos:exactMatch ncbigene:51117 semapv:UnspecifiedMatching -OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:16257 semapv:UnspecifiedMatching -OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:TUBB1 semapv:UnspecifiedMatching -OMIM:612901 TUBB1 skos:exactMatch ncbigene:81027 semapv:UnspecifiedMatching -OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:27038 semapv:UnspecifiedMatching -OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:LCN8 semapv:UnspecifiedMatching -OMIM:612902 LCN8 skos:exactMatch ncbigene:138307 semapv:UnspecifiedMatching -OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:17442 semapv:UnspecifiedMatching -OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:LCN9 semapv:UnspecifiedMatching -OMIM:612903 LCN9 skos:exactMatch ncbigene:392399 semapv:UnspecifiedMatching -OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:20892 semapv:UnspecifiedMatching -OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:LCN10 semapv:UnspecifiedMatching -OMIM:612904 LCN10 skos:exactMatch ncbigene:414332 semapv:UnspecifiedMatching -OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:28733 semapv:UnspecifiedMatching -OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:LCN12 semapv:UnspecifiedMatching -OMIM:612905 LCN12 skos:exactMatch ncbigene:286256 semapv:UnspecifiedMatching -OMIM:612906 RAB32 skos:exactMatch UMLS:C1419201 semapv:UnspecifiedMatching -OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:9772 semapv:UnspecifiedMatching -OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:RAB32 semapv:UnspecifiedMatching -OMIM:612906 RAB32 skos:exactMatch ncbigene:10981 semapv:UnspecifiedMatching -OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:17341 semapv:UnspecifiedMatching -OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:TRNT1 semapv:UnspecifiedMatching -OMIM:612907 TRNT1 skos:exactMatch ncbigene:51095 semapv:UnspecifiedMatching -OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:16525 semapv:UnspecifiedMatching -OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:RAB6C semapv:UnspecifiedMatching -OMIM:612909 RAB6C skos:exactMatch ncbigene:84084 semapv:UnspecifiedMatching -OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:28428 semapv:UnspecifiedMatching -OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:PHF23 semapv:UnspecifiedMatching -OMIM:612910 PHF23 skos:exactMatch ncbigene:79142 semapv:UnspecifiedMatching -OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:29918 semapv:UnspecifiedMatching -OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:NDUFAF3 semapv:UnspecifiedMatching -OMIM:612911 NDUFAF3 skos:exactMatch ncbigene:25915 semapv:UnspecifiedMatching -OMIM:612912 TMEM97 skos:exactMatch hgnc.symbol:28106 semapv:UnspecifiedMatching -OMIM:612912 TMEM97 skos:exactMatch hgnc.symbol:TMEM97 semapv:UnspecifiedMatching -OMIM:612912 TMEM97 skos:exactMatch ncbigene:27346 semapv:UnspecifiedMatching -OMIM:612914 MED29 skos:exactMatch hgnc.symbol:23074 semapv:UnspecifiedMatching -OMIM:612914 MED29 skos:exactMatch hgnc.symbol:MED29 semapv:UnspecifiedMatching -OMIM:612914 MED29 skos:exactMatch ncbigene:55588 semapv:UnspecifiedMatching -OMIM:612915 MED20 skos:exactMatch hgnc.symbol:16840 semapv:UnspecifiedMatching -OMIM:612915 MED20 skos:exactMatch hgnc.symbol:MED20 semapv:UnspecifiedMatching -OMIM:612915 MED20 skos:exactMatch ncbigene:9477 semapv:UnspecifiedMatching -OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch Orphanet:140944 semapv:UnspecifiedMatching -OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch UMLS:C2752042 semapv:UnspecifiedMatching -OMIM:612919 LANCL2 skos:exactMatch hgnc.symbol:6509 semapv:UnspecifiedMatching -OMIM:612919 LANCL2 skos:exactMatch hgnc.symbol:LANCL2 semapv:UnspecifiedMatching -OMIM:612919 LANCL2 skos:exactMatch ncbigene:55915 semapv:UnspecifiedMatching -OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:1268 semapv:UnspecifiedMatching -OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:TSPEAR semapv:UnspecifiedMatching -OMIM:612920 TSPEAR skos:exactMatch ncbigene:54084 semapv:UnspecifiedMatching -OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:28994 semapv:UnspecifiedMatching -OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:AVL9 semapv:UnspecifiedMatching -OMIM:612927 AVL9 skos:exactMatch ncbigene:23080 semapv:UnspecifiedMatching -OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:26278 semapv:UnspecifiedMatching -OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:ISOC2 semapv:UnspecifiedMatching -OMIM:612928 ISOC2 skos:exactMatch ncbigene:79763 semapv:UnspecifiedMatching -OMIM:612930 PID1 skos:exactMatch hgnc.symbol:26084 semapv:UnspecifiedMatching -OMIM:612930 PID1 skos:exactMatch hgnc.symbol:PID1 semapv:UnspecifiedMatching -OMIM:612930 PID1 skos:exactMatch ncbigene:55022 semapv:UnspecifiedMatching -OMIM:612931 PGAM2 skos:exactMatch UMLS:C0268149 semapv:UnspecifiedMatching -OMIM:612931 PGAM2 skos:exactMatch UMLS:C1418502 semapv:UnspecifiedMatching -OMIM:612931 PGAM2 skos:exactMatch hgnc.symbol:8889 semapv:UnspecifiedMatching -OMIM:612931 PGAM2 skos:exactMatch hgnc.symbol:PGAM2 semapv:UnspecifiedMatching -OMIM:612931 PGAM2 skos:exactMatch ncbigene:5224 semapv:UnspecifiedMatching -OMIM:612935 MPRIP skos:exactMatch hgnc.symbol:30321 semapv:UnspecifiedMatching -OMIM:612935 MPRIP skos:exactMatch hgnc.symbol:MPRIP semapv:UnspecifiedMatching -OMIM:612935 MPRIP skos:exactMatch ncbigene:23164 semapv:UnspecifiedMatching -OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch Orphanet:263494 semapv:UnspecifiedMatching -OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching -OMIM:612939 HSPBP1 skos:exactMatch hgnc.symbol:24989 semapv:UnspecifiedMatching -OMIM:612939 HSPBP1 skos:exactMatch hgnc.symbol:HSPBP1 semapv:UnspecifiedMatching -OMIM:612939 HSPBP1 skos:exactMatch ncbigene:23640 semapv:UnspecifiedMatching -OMIM:612941 PRPF40A skos:exactMatch hgnc.symbol:16463 semapv:UnspecifiedMatching -OMIM:612941 PRPF40A skos:exactMatch hgnc.symbol:PRPF40A semapv:UnspecifiedMatching -OMIM:612941 PRPF40A skos:exactMatch ncbigene:55660 semapv:UnspecifiedMatching -OMIM:612942 RAB25 skos:exactMatch hgnc.symbol:18238 semapv:UnspecifiedMatching -OMIM:612942 RAB25 skos:exactMatch hgnc.symbol:RAB25 semapv:UnspecifiedMatching -OMIM:612942 RAB25 skos:exactMatch ncbigene:57111 semapv:UnspecifiedMatching -OMIM:612944 RNASET2 skos:exactMatch hgnc.symbol:21686 semapv:UnspecifiedMatching -OMIM:612944 RNASET2 skos:exactMatch hgnc.symbol:RNASET2 semapv:UnspecifiedMatching -OMIM:612944 RNASET2 skos:exactMatch ncbigene:8635 semapv:UnspecifiedMatching -OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:9782 semapv:UnspecifiedMatching -OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:RAB4B semapv:UnspecifiedMatching -OMIM:612945 RAB4B skos:exactMatch ncbigene:53916 semapv:UnspecifiedMatching -OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch Orphanet:353217 semapv:UnspecifiedMatching -OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching -OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch Orphanet:199340 semapv:UnspecifiedMatching -OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch UMLS:C2751831 semapv:UnspecifiedMatching -OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching -OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching -OMIM:612958 TACO1 skos:exactMatch UMLS:C1824568 semapv:UnspecifiedMatching -OMIM:612958 TACO1 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching -OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:24316 semapv:UnspecifiedMatching -OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:TACO1 semapv:UnspecifiedMatching -OMIM:612958 TACO1 skos:exactMatch ncbigene:51204 semapv:UnspecifiedMatching -OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:25966 semapv:UnspecifiedMatching -OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:ESRP1 semapv:UnspecifiedMatching -OMIM:612959 ESRP1 skos:exactMatch ncbigene:54845 semapv:UnspecifiedMatching -OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:26152 semapv:UnspecifiedMatching -OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:ESRP2 semapv:UnspecifiedMatching -OMIM:612960 ESRP2 skos:exactMatch ncbigene:80004 semapv:UnspecifiedMatching -OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching -OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching -OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:24594 semapv:UnspecifiedMatching -OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:DCTN5 semapv:UnspecifiedMatching -OMIM:612962 DCTN5 skos:exactMatch ncbigene:84516 semapv:UnspecifiedMatching -OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:16964 semapv:UnspecifiedMatching -OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:DCTN6 semapv:UnspecifiedMatching -OMIM:612963 DCTN6 skos:exactMatch ncbigene:10671 semapv:UnspecifiedMatching -OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:9764 semapv:UnspecifiedMatching -OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:RAB22A semapv:UnspecifiedMatching -OMIM:612966 RAB22A skos:exactMatch ncbigene:57403 semapv:UnspecifiedMatching -OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:18331 semapv:UnspecifiedMatching -OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:TIGD7 semapv:UnspecifiedMatching -OMIM:612969 TIGD7 skos:exactMatch ncbigene:91151 semapv:UnspecifiedMatching -OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:31997 semapv:UnspecifiedMatching -OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:NBPF17P semapv:UnspecifiedMatching -OMIM:612971 PDZD7 skos:exactMatch hgnc.symbol:26257 semapv:UnspecifiedMatching -OMIM:612971 PDZD7 skos:exactMatch hgnc.symbol:PDZD7 semapv:UnspecifiedMatching -OMIM:612971 PDZD7 skos:exactMatch ncbigene:79955 semapv:UnspecifiedMatching -OMIM:612972 TIGD1 skos:exactMatch hgnc.symbol:14523 semapv:UnspecifiedMatching -OMIM:612972 TIGD1 skos:exactMatch hgnc.symbol:TIGD1 semapv:UnspecifiedMatching -OMIM:612972 TIGD1 skos:exactMatch ncbigene:200765 semapv:UnspecifiedMatching -OMIM:612973 TIGD2 skos:exactMatch hgnc.symbol:18333 semapv:UnspecifiedMatching -OMIM:612973 TIGD2 skos:exactMatch hgnc.symbol:TIGD2 semapv:UnspecifiedMatching -OMIM:612973 TIGD2 skos:exactMatch ncbigene:166815 semapv:UnspecifiedMatching -OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:22953 semapv:UnspecifiedMatching -OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:DEPTOR semapv:UnspecifiedMatching -OMIM:612974 DEPDC6 skos:exactMatch ncbigene:64798 semapv:UnspecifiedMatching -OMIM:612975 short sleep, familial natural, 1 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching -OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:28998 semapv:UnspecifiedMatching -OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:DCUN1D4 semapv:UnspecifiedMatching -OMIM:612977 DCUN1D4 skos:exactMatch ncbigene:23142 semapv:UnspecifiedMatching -OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:20146 semapv:UnspecifiedMatching -OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:CBLN3 semapv:UnspecifiedMatching -OMIM:612978 CBLN3 skos:exactMatch ncbigene:643866 semapv:UnspecifiedMatching -OMIM:612979 SYS1 skos:exactMatch UMLS:C1823165 semapv:UnspecifiedMatching -OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:16162 semapv:UnspecifiedMatching -OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:SYS1 semapv:UnspecifiedMatching -OMIM:612979 SYS1 skos:exactMatch ncbigene:90196 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch UMLS:C1825597 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:14497 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:IMP3 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch ncbigene:55272 semapv:UnspecifiedMatching -OMIM:612981 IMP4 skos:exactMatch UMLS:C1537406 semapv:UnspecifiedMatching -OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:30856 semapv:UnspecifiedMatching -OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:IMP4 semapv:UnspecifiedMatching -OMIM:612981 IMP4 skos:exactMatch ncbigene:92856 semapv:UnspecifiedMatching -OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:31587 semapv:UnspecifiedMatching -OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:MIR210 semapv:UnspecifiedMatching -OMIM:612982 MIR210 skos:exactMatch ncbigene:406992 semapv:UnspecifiedMatching -OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:31495 semapv:UnspecifiedMatching -OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:MIR106B semapv:UnspecifiedMatching -OMIM:612983 MIR106B skos:exactMatch ncbigene:406900 semapv:UnspecifiedMatching -OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:31645 semapv:UnspecifiedMatching -OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:MIR93 semapv:UnspecifiedMatching -OMIM:612984 MIR93 skos:exactMatch ncbigene:407050 semapv:UnspecifiedMatching -OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:14360 semapv:UnspecifiedMatching -OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:IRX3 semapv:UnspecifiedMatching -OMIM:612985 IRX3 skos:exactMatch ncbigene:79191 semapv:UnspecifiedMatching -OMIM:612986 EID3 skos:exactMatch hgnc.symbol:32961 semapv:UnspecifiedMatching -OMIM:612986 EID3 skos:exactMatch hgnc.symbol:EID3 semapv:UnspecifiedMatching -OMIM:612986 EID3 skos:exactMatch ncbigene:493861 semapv:UnspecifiedMatching -OMIM:612987 NSMCE4A skos:exactMatch UMLS:C1826474 semapv:UnspecifiedMatching -OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:25935 semapv:UnspecifiedMatching -OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:NSMCE4A semapv:UnspecifiedMatching -OMIM:612987 NSMCE4A skos:exactMatch ncbigene:54780 semapv:UnspecifiedMatching -OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:25382 semapv:UnspecifiedMatching -OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:TMEM126A semapv:UnspecifiedMatching -OMIM:612988 TMEM126A skos:exactMatch ncbigene:84233 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch UMLS:C1425445 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:18318 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:ASXL1 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch ncbigene:171023 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch UMLS:C1428272 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch UMLS:C4310672 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:23805 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:ASXL2 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch ncbigene:55252 semapv:UnspecifiedMatching -OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:25076 semapv:UnspecifiedMatching -OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:NBPF3 semapv:UnspecifiedMatching -OMIM:612992 NBPF3 skos:exactMatch ncbigene:84224 semapv:UnspecifiedMatching -OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:24589 semapv:UnspecifiedMatching -OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:FILIP1L semapv:UnspecifiedMatching -OMIM:612993 FILIP1L skos:exactMatch ncbigene:11259 semapv:UnspecifiedMatching -OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:9768 semapv:UnspecifiedMatching -OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:RAB28 semapv:UnspecifiedMatching -OMIM:612994 RAB28 skos:exactMatch ncbigene:9364 semapv:UnspecifiedMatching -OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:12354 semapv:UnspecifiedMatching -OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:TRV-CAC1-2 semapv:UnspecifiedMatching -OMIM:612995 TRV-CAC1-2 skos:exactMatch ncbigene:7240 semapv:UnspecifiedMatching -OMIM:612996 TRK-CTT2-3 skos:exactMatch UMLS:C1823498 semapv:UnspecifiedMatching -OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:33199 semapv:UnspecifiedMatching -OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:TRK-CTT2-3 semapv:UnspecifiedMatching -OMIM:612996 TRK-CTT2-3 skos:exactMatch ncbigene:790966 semapv:UnspecifiedMatching -OMIM:612997 spermatogenic failure 7 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching -OMIM:612997 spermatogenic failure 7 skos:exactMatch UMLS:C2751811 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:98853 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching -OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch Orphanet:448264 semapv:UnspecifiedMatching -OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C2931923 semapv:UnspecifiedMatching -OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C4552049 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch UMLS:C1415504 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch UMLS:C4479491 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch hgnc.symbol:4851 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch hgnc.symbol:HTT semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch ncbigene:3064 semapv:UnspecifiedMatching -OMIM:613006 iia 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching -OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:30605 semapv:UnspecifiedMatching -OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:SEPSECS semapv:UnspecifiedMatching -OMIM:613009 SEPSECS skos:exactMatch ncbigene:51091 semapv:UnspecifiedMatching -OMIM:613010 RFK skos:exactMatch hgnc.symbol:30324 semapv:UnspecifiedMatching -OMIM:613010 RFK skos:exactMatch hgnc.symbol:RFK semapv:UnspecifiedMatching -OMIM:613010 RFK skos:exactMatch ncbigene:55312 semapv:UnspecifiedMatching -OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:26444 semapv:UnspecifiedMatching -OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:UROC1 semapv:UnspecifiedMatching -OMIM:613012 UROC1 skos:exactMatch ncbigene:131669 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch UMLS:C1420590 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch hgnc.symbol:11573 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch hgnc.symbol:TAT semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch ncbigene:6898 semapv:UnspecifiedMatching -OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:26034 semapv:UnspecifiedMatching -OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:SDHAF2 semapv:UnspecifiedMatching -OMIM:613019 SDHAF2 skos:exactMatch ncbigene:54949 semapv:UnspecifiedMatching -OMIM:613022 OGDH skos:exactMatch hgnc.symbol:8124 semapv:UnspecifiedMatching -OMIM:613022 OGDH skos:exactMatch hgnc.symbol:OGDH semapv:UnspecifiedMatching -OMIM:613022 OGDH skos:exactMatch ncbigene:4967 semapv:UnspecifiedMatching -OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:28920 semapv:UnspecifiedMatching -OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:CEP170 semapv:UnspecifiedMatching -OMIM:613023 CEP170 skos:exactMatch ncbigene:9859 semapv:UnspecifiedMatching -OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:18667 semapv:UnspecifiedMatching -OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:PMPCA semapv:UnspecifiedMatching -OMIM:613036 PMPCA skos:exactMatch ncbigene:23203 semapv:UnspecifiedMatching -OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:21474 semapv:UnspecifiedMatching -OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:INPP5E semapv:UnspecifiedMatching -OMIM:613037 INPP5E skos:exactMatch ncbigene:56623 semapv:UnspecifiedMatching -OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:1916 semapv:UnspecifiedMatching -OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:CHD1L semapv:UnspecifiedMatching -OMIM:613039 CHD1L skos:exactMatch ncbigene:9557 semapv:UnspecifiedMatching -OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:28416 semapv:UnspecifiedMatching -OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:CCDC26 semapv:UnspecifiedMatching -OMIM:613040 CCDC26 skos:exactMatch ncbigene:137196 semapv:UnspecifiedMatching -OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:25526 semapv:UnspecifiedMatching -OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:FAM90A1 semapv:UnspecifiedMatching -OMIM:613041 FAM90A1 skos:exactMatch ncbigene:55138 semapv:UnspecifiedMatching -OMIM:613042 FAM90A3 skos:exactMatch hgnc.symbol:FAM90A3 semapv:UnspecifiedMatching -OMIM:613042 FAM90A3 skos:exactMatch ncbigene:389611 semapv:UnspecifiedMatching -OMIM:613043 FAM90A5 skos:exactMatch hgnc.symbol:FAM90A5 semapv:UnspecifiedMatching -OMIM:613043 FAM90A5 skos:exactMatch ncbigene:441315 semapv:UnspecifiedMatching -OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:32255 semapv:UnspecifiedMatching -OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:FAM90A7 semapv:UnspecifiedMatching -OMIM:613044 FAM90A7 skos:exactMatch ncbigene:441317 semapv:UnspecifiedMatching -OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:32256 semapv:UnspecifiedMatching -OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:FAM90A8 semapv:UnspecifiedMatching -OMIM:613045 FAM90A8 skos:exactMatch ncbigene:441324 semapv:UnspecifiedMatching -OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:32257 semapv:UnspecifiedMatching -OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:FAM90A9 semapv:UnspecifiedMatching -OMIM:613046 FAM90A9 skos:exactMatch ncbigene:441327 semapv:UnspecifiedMatching -OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:32258 semapv:UnspecifiedMatching -OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:FAM90A10 semapv:UnspecifiedMatching -OMIM:613047 FAM90A10 skos:exactMatch ncbigene:441328 semapv:UnspecifiedMatching -OMIM:613048 FAM90A12 skos:exactMatch hgnc.symbol:FAM90A12 semapv:UnspecifiedMatching -OMIM:613048 FAM90A12 skos:exactMatch ncbigene:645879 semapv:UnspecifiedMatching -OMIM:613049 FAM90A13 skos:exactMatch hgnc.symbol:FAM90A13 semapv:UnspecifiedMatching -OMIM:613049 FAM90A13 skos:exactMatch ncbigene:441314 semapv:UnspecifiedMatching -OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:32262 semapv:UnspecifiedMatching -OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:FAM90A14 semapv:UnspecifiedMatching -OMIM:613050 FAM90A14 skos:exactMatch ncbigene:645651 semapv:UnspecifiedMatching -OMIM:613051 FAM90A15 skos:exactMatch hgnc.symbol:FAM90A15 semapv:UnspecifiedMatching -OMIM:613051 FAM90A15 skos:exactMatch ncbigene:389630 semapv:UnspecifiedMatching -OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:32266 semapv:UnspecifiedMatching -OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:FAM90A18 semapv:UnspecifiedMatching -OMIM:613052 FAM90A18 skos:exactMatch ncbigene:441326 semapv:UnspecifiedMatching -OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:32267 semapv:UnspecifiedMatching -OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:FAM90A19 semapv:UnspecifiedMatching -OMIM:613053 FAM90A19 skos:exactMatch ncbigene:728753 semapv:UnspecifiedMatching -OMIM:613054 FAM90A20 skos:exactMatch hgnc.symbol:FAM90A20 semapv:UnspecifiedMatching -OMIM:613054 FAM90A20 skos:exactMatch ncbigene:728430 semapv:UnspecifiedMatching -OMIM:613056 LUC7L2 skos:exactMatch UMLS:C1427644 semapv:UnspecifiedMatching -OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:21608 semapv:UnspecifiedMatching -OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:LUC7L2 semapv:UnspecifiedMatching -OMIM:613056 LUC7L2 skos:exactMatch ncbigene:51631 semapv:UnspecifiedMatching -OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:31611 semapv:UnspecifiedMatching -OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:MIR26A2 semapv:UnspecifiedMatching -OMIM:613057 MIR26A2 skos:exactMatch ncbigene:407016 semapv:UnspecifiedMatching -OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:16714 semapv:UnspecifiedMatching -OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:PKNOX2 semapv:UnspecifiedMatching -OMIM:613066 PKNOX2 skos:exactMatch ncbigene:63876 semapv:UnspecifiedMatching -OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching -OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching -OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:18250 semapv:UnspecifiedMatching -OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:PHF10 semapv:UnspecifiedMatching -OMIM:613069 PHF10 skos:exactMatch ncbigene:55274 semapv:UnspecifiedMatching -OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:26521 semapv:UnspecifiedMatching -OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:LOXHD1 semapv:UnspecifiedMatching -OMIM:613072 LOXHD1 skos:exactMatch ncbigene:125336 semapv:UnspecifiedMatching -OMIM:613075 macs syndrome skos:exactMatch Orphanet:217335 semapv:UnspecifiedMatching -OMIM:613075 macs syndrome skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching -OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching -OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching -OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching -OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching -OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:21577 semapv:UnspecifiedMatching -OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:KDM1B semapv:UnspecifiedMatching -OMIM:613081 KDM1B skos:exactMatch ncbigene:221656 semapv:UnspecifiedMatching -OMIM:613082 ATP2C2 skos:exactMatch UMLS:C1825505 semapv:UnspecifiedMatching -OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:29103 semapv:UnspecifiedMatching -OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:ATP2C2 semapv:UnspecifiedMatching -OMIM:613082 ATP2C2 skos:exactMatch ncbigene:9914 semapv:UnspecifiedMatching -OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:13082 semapv:UnspecifiedMatching -OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:LTN1 semapv:UnspecifiedMatching -OMIM:613083 LTN1 skos:exactMatch ncbigene:26046 semapv:UnspecifiedMatching -OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:7623 semapv:UnspecifiedMatching -OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:MYT1L semapv:UnspecifiedMatching -OMIM:613084 MYT1L skos:exactMatch ncbigene:23040 semapv:UnspecifiedMatching -OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching -OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching -OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:29389 semapv:UnspecifiedMatching -OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:SRRM4 semapv:UnspecifiedMatching -OMIM:613103 SRRM4 skos:exactMatch ncbigene:84530 semapv:UnspecifiedMatching -OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:1365 semapv:UnspecifiedMatching -OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:CACFD1 semapv:UnspecifiedMatching -OMIM:613104 CACFD1 skos:exactMatch ncbigene:11094 semapv:UnspecifiedMatching -OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching -OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching -OMIM:613109 GM2A skos:exactMatch hgnc.symbol:4367 semapv:UnspecifiedMatching -OMIM:613109 GM2A skos:exactMatch hgnc.symbol:GM2A semapv:UnspecifiedMatching -OMIM:613109 GM2A skos:exactMatch ncbigene:2760 semapv:UnspecifiedMatching -OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:1055 semapv:UnspecifiedMatching -OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:BLCAP semapv:UnspecifiedMatching -OMIM:613110 BLCAP skos:exactMatch ncbigene:10904 semapv:UnspecifiedMatching -OMIM:613111 CTSA skos:exactMatch hgnc.symbol:9251 semapv:UnspecifiedMatching -OMIM:613111 CTSA skos:exactMatch hgnc.symbol:CTSA semapv:UnspecifiedMatching -OMIM:613111 CTSA skos:exactMatch ncbigene:5476 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C0085113 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch UMLS:C4225458 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch hgnc.symbol:7765 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch hgnc.symbol:NF1 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch ncbigene:4763 semapv:UnspecifiedMatching -OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:25964 semapv:UnspecifiedMatching -OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:RETREG1 semapv:UnspecifiedMatching -OMIM:613114 RETREG1 skos:exactMatch ncbigene:54463 semapv:UnspecifiedMatching -OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:10200 semapv:UnspecifiedMatching -OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:SNORD50A semapv:UnspecifiedMatching -OMIM:613117 SNORD50A skos:exactMatch ncbigene:26799 semapv:UnspecifiedMatching -OMIM:613121 NEXN skos:exactMatch hgnc.symbol:29557 semapv:UnspecifiedMatching -OMIM:613121 NEXN skos:exactMatch hgnc.symbol:NEXN semapv:UnspecifiedMatching -OMIM:613121 NEXN skos:exactMatch ncbigene:91624 semapv:UnspecifiedMatching -OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:1167 semapv:UnspecifiedMatching -OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:NRIP3 semapv:UnspecifiedMatching -OMIM:613125 NRIP3 skos:exactMatch ncbigene:56675 semapv:UnspecifiedMatching -OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:24472 semapv:UnspecifiedMatching -OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:PSRC1 semapv:UnspecifiedMatching -OMIM:613126 PSRC1 skos:exactMatch ncbigene:84722 semapv:UnspecifiedMatching -OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:24168 semapv:UnspecifiedMatching -OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:CHRDL2 semapv:UnspecifiedMatching -OMIM:613127 CHRDL2 skos:exactMatch ncbigene:25884 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch UMLS:C1428560 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch UMLS:C4479220 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch hgnc.symbol:26200 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch hgnc.symbol:STN1 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch ncbigene:79991 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch UMLS:C1824460 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch UMLS:C4552029 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:26169 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:CTC1 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch ncbigene:80169 semapv:UnspecifiedMatching -OMIM:613130 TEN1 skos:exactMatch UMLS:C2751072 semapv:UnspecifiedMatching -OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:37242 semapv:UnspecifiedMatching -OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:TEN1 semapv:UnspecifiedMatching -OMIM:613130 TEN1 skos:exactMatch ncbigene:100134934 semapv:UnspecifiedMatching -OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:27645 semapv:UnspecifiedMatching -OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:MIR449A semapv:UnspecifiedMatching -OMIM:613131 MIR449A skos:exactMatch ncbigene:554213 semapv:UnspecifiedMatching -OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:32794 semapv:UnspecifiedMatching -OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:MIR449B semapv:UnspecifiedMatching -OMIM:613132 MIR449B skos:exactMatch ncbigene:693123 semapv:UnspecifiedMatching -OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:20659 semapv:UnspecifiedMatching -OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:TSPAN2 semapv:UnspecifiedMatching -OMIM:613133 TSPAN2 skos:exactMatch ncbigene:10100 semapv:UnspecifiedMatching -OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:17752 semapv:UnspecifiedMatching -OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:TSPAN3 semapv:UnspecifiedMatching -OMIM:613134 TSPAN3 skos:exactMatch ncbigene:10099 semapv:UnspecifiedMatching -OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:17753 semapv:UnspecifiedMatching -OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:TSPAN5 semapv:UnspecifiedMatching -OMIM:613136 TSPAN5 skos:exactMatch ncbigene:10098 semapv:UnspecifiedMatching -OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:21640 semapv:UnspecifiedMatching -OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:TSPAN9 semapv:UnspecifiedMatching -OMIM:613137 TSPAN9 skos:exactMatch ncbigene:10867 semapv:UnspecifiedMatching -OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:21641 semapv:UnspecifiedMatching -OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:TSPAN12 semapv:UnspecifiedMatching -OMIM:613138 TSPAN12 skos:exactMatch ncbigene:23554 semapv:UnspecifiedMatching -OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:21643 semapv:UnspecifiedMatching -OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:TSPAN13 semapv:UnspecifiedMatching -OMIM:613139 TSPAN13 skos:exactMatch ncbigene:27075 semapv:UnspecifiedMatching -OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:23298 semapv:UnspecifiedMatching -OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:TSPAN15 semapv:UnspecifiedMatching -OMIM:613140 TSPAN15 skos:exactMatch ncbigene:23555 semapv:UnspecifiedMatching -OMIM:613141 DTX2 skos:exactMatch UMLS:C1423876 semapv:UnspecifiedMatching -OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:15973 semapv:UnspecifiedMatching -OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:DTX2 semapv:UnspecifiedMatching -OMIM:613141 DTX2 skos:exactMatch ncbigene:113878 semapv:UnspecifiedMatching -OMIM:613142 DTX3 skos:exactMatch UMLS:C1428375 semapv:UnspecifiedMatching -OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:24457 semapv:UnspecifiedMatching -OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:DTX3 semapv:UnspecifiedMatching -OMIM:613142 DTX3 skos:exactMatch ncbigene:196403 semapv:UnspecifiedMatching -OMIM:613143 DTX3L skos:exactMatch UMLS:C1539313 semapv:UnspecifiedMatching -OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:30323 semapv:UnspecifiedMatching -OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:DTX3L semapv:UnspecifiedMatching -OMIM:613143 DTX3L skos:exactMatch ncbigene:151636 semapv:UnspecifiedMatching -OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:31555 semapv:UnspecifiedMatching -OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:MIR184 semapv:UnspecifiedMatching -OMIM:613146 MIR184 skos:exactMatch ncbigene:406960 semapv:UnspecifiedMatching -OMIM:613147 MIR205 skos:exactMatch hgnc.symbol:31583 semapv:UnspecifiedMatching -OMIM:613147 MIR205 skos:exactMatch hgnc.symbol:MIR205 semapv:UnspecifiedMatching -OMIM:613147 MIR205 skos:exactMatch ncbigene:406988 semapv:UnspecifiedMatching -OMIM:613149 CDKN2BAS skos:exactMatch hgnc.symbol:34341 semapv:UnspecifiedMatching -OMIM:613149 CDKN2BAS skos:exactMatch hgnc.symbol:CDKN2B-AS1 semapv:UnspecifiedMatching -OMIM:613149 CDKN2BAS skos:exactMatch ncbigene:100048912 semapv:UnspecifiedMatching -OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching -OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching -OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching -OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching -OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching -OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching -OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching -OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching -OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching -OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch UMLS:C3150415 semapv:UnspecifiedMatching -OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching -OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching -OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching -OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch Orphanet:206564 semapv:UnspecifiedMatching -OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching -OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch Orphanet:206559 semapv:UnspecifiedMatching -OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching -OMIM:613160 VWF skos:exactMatch hgnc.symbol:12726 semapv:UnspecifiedMatching -OMIM:613160 VWF skos:exactMatch hgnc.symbol:VWF semapv:UnspecifiedMatching -OMIM:613160 VWF skos:exactMatch ncbigene:7450 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch UMLS:C1538435 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch UMLS:C4017299 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch UMLS:C4540251 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch hgnc.symbol:19721 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch hgnc.symbol:CANT1 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch ncbigene:124583 semapv:UnspecifiedMatching -OMIM:613166 DCLK2 skos:exactMatch hgnc.symbol:19002 semapv:UnspecifiedMatching -OMIM:613166 DCLK2 skos:exactMatch hgnc.symbol:DCLK2 semapv:UnspecifiedMatching -OMIM:613166 DCLK2 skos:exactMatch ncbigene:166614 semapv:UnspecifiedMatching -OMIM:613167 DCLK3 skos:exactMatch hgnc.symbol:19005 semapv:UnspecifiedMatching -OMIM:613167 DCLK3 skos:exactMatch hgnc.symbol:DCLK3 semapv:UnspecifiedMatching -OMIM:613167 DCLK3 skos:exactMatch ncbigene:85443 semapv:UnspecifiedMatching -OMIM:613168 SERPINF2 skos:exactMatch hgnc.symbol:9075 semapv:UnspecifiedMatching -OMIM:613168 SERPINF2 skos:exactMatch hgnc.symbol:SERPINF2 semapv:UnspecifiedMatching -OMIM:613168 SERPINF2 skos:exactMatch ncbigene:5345 semapv:UnspecifiedMatching -OMIM:613169 KLHDC8B skos:exactMatch hgnc.symbol:28557 semapv:UnspecifiedMatching -OMIM:613169 KLHDC8B skos:exactMatch hgnc.symbol:KLHDC8B semapv:UnspecifiedMatching -OMIM:613169 KLHDC8B skos:exactMatch ncbigene:200942 semapv:UnspecifiedMatching -OMIM:613170 TSPAN1 skos:exactMatch hgnc.symbol:20657 semapv:UnspecifiedMatching -OMIM:613170 TSPAN1 skos:exactMatch hgnc.symbol:TSPAN1 semapv:UnspecifiedMatching -OMIM:613170 TSPAN1 skos:exactMatch ncbigene:10103 semapv:UnspecifiedMatching -OMIM:613171 RBM20 skos:exactMatch hgnc.symbol:27424 semapv:UnspecifiedMatching -OMIM:613171 RBM20 skos:exactMatch hgnc.symbol:RBM20 semapv:UnspecifiedMatching -OMIM:613171 RBM20 skos:exactMatch ncbigene:282996 semapv:UnspecifiedMatching -OMIM:613173 NEGR1 skos:exactMatch hgnc.symbol:17302 semapv:UnspecifiedMatching -OMIM:613173 NEGR1 skos:exactMatch hgnc.symbol:NEGR1 semapv:UnspecifiedMatching -OMIM:613173 NEGR1 skos:exactMatch ncbigene:257194 semapv:UnspecifiedMatching -OMIM:613175 SMG8 skos:exactMatch UMLS:C1824463 semapv:UnspecifiedMatching -OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:25551 semapv:UnspecifiedMatching -OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:SMG8 semapv:UnspecifiedMatching -OMIM:613175 SMG8 skos:exactMatch ncbigene:55181 semapv:UnspecifiedMatching -OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:25763 semapv:UnspecifiedMatching -OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:SMG9 semapv:UnspecifiedMatching -OMIM:613176 SMG9 skos:exactMatch ncbigene:56006 semapv:UnspecifiedMatching -OMIM:613178 CTIF skos:exactMatch hgnc.symbol:23925 semapv:UnspecifiedMatching -OMIM:613178 CTIF skos:exactMatch hgnc.symbol:CTIF semapv:UnspecifiedMatching -OMIM:613178 CTIF skos:exactMatch ncbigene:9811 semapv:UnspecifiedMatching -OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:24263 semapv:UnspecifiedMatching -OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:BOLA1 semapv:UnspecifiedMatching -OMIM:613181 BOLA1 skos:exactMatch ncbigene:51027 semapv:UnspecifiedMatching -OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:29488 semapv:UnspecifiedMatching -OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:BOLA2 semapv:UnspecifiedMatching -OMIM:613182 BOLA2 skos:exactMatch ncbigene:552900 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch UMLS:C1826629 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:24415 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:BOLA3 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch ncbigene:388962 semapv:UnspecifiedMatching -OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:21161 semapv:UnspecifiedMatching -OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:TRIM68 semapv:UnspecifiedMatching -OMIM:613184 TRIM68 skos:exactMatch ncbigene:55128 semapv:UnspecifiedMatching -OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:31647 semapv:UnspecifiedMatching -OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:MIR95 semapv:UnspecifiedMatching -OMIM:613185 MIR95 skos:exactMatch ncbigene:407052 semapv:UnspecifiedMatching -OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:31487 semapv:UnspecifiedMatching -OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:MIR100 semapv:UnspecifiedMatching -OMIM:613186 MIR100 skos:exactMatch ncbigene:406892 semapv:UnspecifiedMatching -OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:31490 semapv:UnspecifiedMatching -OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:MIR103A1 semapv:UnspecifiedMatching -OMIM:613187 MIR103-1 skos:exactMatch ncbigene:406895 semapv:UnspecifiedMatching -OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:31491 semapv:UnspecifiedMatching -OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:MIR103A2 semapv:UnspecifiedMatching -OMIM:613188 MIR103-2 skos:exactMatch ncbigene:406896 semapv:UnspecifiedMatching -OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:31496 semapv:UnspecifiedMatching -OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:MIR107 semapv:UnspecifiedMatching -OMIM:613189 MIR107 skos:exactMatch ncbigene:406901 semapv:UnspecifiedMatching -OMIM:613190 DNAAF1 skos:exactMatch UMLS:C1825897 semapv:UnspecifiedMatching -OMIM:613190 DNAAF1 skos:exactMatch UMLS:C2750790 semapv:UnspecifiedMatching -OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:30539 semapv:UnspecifiedMatching -OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:DNAAF1 semapv:UnspecifiedMatching -OMIM:613190 DNAAF1 skos:exactMatch ncbigene:123872 semapv:UnspecifiedMatching -OMIM:613191 DUSP13 skos:exactMatch hgnc.symbol:DUSP13B semapv:UnspecifiedMatching -OMIM:613191 DUSP13 skos:exactMatch ncbigene:51207 semapv:UnspecifiedMatching -OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:24648 semapv:UnspecifiedMatching -OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:ETAA1 semapv:UnspecifiedMatching -OMIM:613196 ETAA1 skos:exactMatch ncbigene:54465 semapv:UnspecifiedMatching -OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:24808 semapv:UnspecifiedMatching -OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:TRAFD1 semapv:UnspecifiedMatching -OMIM:613197 TRAFD1 skos:exactMatch ncbigene:10906 semapv:UnspecifiedMatching -OMIM:613198 KMT5C skos:exactMatch UMLS:C1539901 semapv:UnspecifiedMatching -OMIM:613198 KMT5C skos:exactMatch hgnc.symbol:28405 semapv:UnspecifiedMatching -OMIM:613198 KMT5C skos:exactMatch hgnc.symbol:KMT5C semapv:UnspecifiedMatching -OMIM:613198 KMT5C skos:exactMatch ncbigene:84787 semapv:UnspecifiedMatching -OMIM:613199 TAOK2 skos:exactMatch hgnc.symbol:16835 semapv:UnspecifiedMatching -OMIM:613199 TAOK2 skos:exactMatch hgnc.symbol:TAOK2 semapv:UnspecifiedMatching -OMIM:613199 TAOK2 skos:exactMatch ncbigene:9344 semapv:UnspecifiedMatching -OMIM:613200 PDS5A skos:exactMatch UMLS:C2239805 semapv:UnspecifiedMatching -OMIM:613200 PDS5A skos:exactMatch hgnc.symbol:29088 semapv:UnspecifiedMatching -OMIM:613200 PDS5A skos:exactMatch hgnc.symbol:PDS5A semapv:UnspecifiedMatching -OMIM:613200 PDS5A skos:exactMatch ncbigene:23244 semapv:UnspecifiedMatching -OMIM:613201 CHTF18 skos:exactMatch UMLS:C1425513 semapv:UnspecifiedMatching -OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:18435 semapv:UnspecifiedMatching -OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:CHTF18 semapv:UnspecifiedMatching -OMIM:613201 CHTF18 skos:exactMatch ncbigene:63922 semapv:UnspecifiedMatching -OMIM:613202 CHTF8 skos:exactMatch UMLS:C2681361 semapv:UnspecifiedMatching -OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:24353 semapv:UnspecifiedMatching -OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:CHTF8 semapv:UnspecifiedMatching -OMIM:613202 CHTF8 skos:exactMatch ncbigene:54921 semapv:UnspecifiedMatching -OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:24453 semapv:UnspecifiedMatching -OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:DSCC1 semapv:UnspecifiedMatching -OMIM:613203 DSCC1 skos:exactMatch ncbigene:79075 semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch UMLS:C1421540 semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch hgnc.symbol:12816 semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch hgnc.symbol:XPC semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch ncbigene:7508 semapv:UnspecifiedMatching -OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:20958 semapv:UnspecifiedMatching -OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:TMEM181 semapv:UnspecifiedMatching -OMIM:613209 TMEM181 skos:exactMatch ncbigene:57583 semapv:UnspecifiedMatching -OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:25199 semapv:UnspecifiedMatching -OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:DPH7 semapv:UnspecifiedMatching -OMIM:613210 DPH7 skos:exactMatch ncbigene:92715 semapv:UnspecifiedMatching -OMIM:613212 AARSD1 skos:exactMatch hgnc.symbol:28417 semapv:UnspecifiedMatching -OMIM:613212 AARSD1 skos:exactMatch hgnc.symbol:AARSD1 semapv:UnspecifiedMatching -OMIM:613212 AARSD1 skos:exactMatch ncbigene:80755 semapv:UnspecifiedMatching -OMIM:613213 CYB5R3 skos:exactMatch hgnc.symbol:2873 semapv:UnspecifiedMatching -OMIM:613213 CYB5R3 skos:exactMatch hgnc.symbol:CYB5R3 semapv:UnspecifiedMatching -OMIM:613213 CYB5R3 skos:exactMatch ncbigene:1727 semapv:UnspecifiedMatching -OMIM:613214 WDR72 skos:exactMatch hgnc.symbol:26790 semapv:UnspecifiedMatching -OMIM:613214 WDR72 skos:exactMatch hgnc.symbol:WDR72 semapv:UnspecifiedMatching -OMIM:613214 WDR72 skos:exactMatch ncbigene:256764 semapv:UnspecifiedMatching -OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:2570 semapv:UnspecifiedMatching -OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:CYB5A semapv:UnspecifiedMatching -OMIM:613218 CYB5A skos:exactMatch ncbigene:1528 semapv:UnspecifiedMatching -OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C2750735 semapv:UnspecifiedMatching -OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C3150459 semapv:UnspecifiedMatching -OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:25257 semapv:UnspecifiedMatching -OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:TMEM18 semapv:UnspecifiedMatching -OMIM:613220 TMEM18 skos:exactMatch ncbigene:129787 semapv:UnspecifiedMatching -OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:17587 semapv:UnspecifiedMatching -OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:MTCH2 semapv:UnspecifiedMatching -OMIM:613221 MTCH2 skos:exactMatch ncbigene:23788 semapv:UnspecifiedMatching -OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:21526 semapv:UnspecifiedMatching -OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:GNPDA2 semapv:UnspecifiedMatching -OMIM:613222 GNPDA2 skos:exactMatch ncbigene:132789 semapv:UnspecifiedMatching -OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:15981 semapv:UnspecifiedMatching -OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:ZNF296 semapv:UnspecifiedMatching -OMIM:613226 ZNF296 skos:exactMatch ncbigene:162979 semapv:UnspecifiedMatching -OMIM:613228 AGA skos:exactMatch hgnc.symbol:318 semapv:UnspecifiedMatching -OMIM:613228 AGA skos:exactMatch hgnc.symbol:AGA semapv:UnspecifiedMatching -OMIM:613228 AGA skos:exactMatch ncbigene:175 semapv:UnspecifiedMatching -OMIM:613230 PEPD skos:exactMatch hgnc.symbol:8840 semapv:UnspecifiedMatching -OMIM:613230 PEPD skos:exactMatch hgnc.symbol:PEPD semapv:UnspecifiedMatching -OMIM:613230 PEPD skos:exactMatch ncbigene:5184 semapv:UnspecifiedMatching -OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:20226 semapv:UnspecifiedMatching -OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:KIF26A semapv:UnspecifiedMatching -OMIM:613231 KIF26A skos:exactMatch ncbigene:26153 semapv:UnspecifiedMatching -OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:28117 semapv:UnspecifiedMatching -OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:RBM42 semapv:UnspecifiedMatching -OMIM:613232 RBM42 skos:exactMatch ncbigene:79171 semapv:UnspecifiedMatching -OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:29260 semapv:UnspecifiedMatching -OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:NCEH1 semapv:UnspecifiedMatching -OMIM:613234 NCEH1 skos:exactMatch ncbigene:57552 semapv:UnspecifiedMatching -OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:39080 semapv:UnspecifiedMatching -OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:KCNJ18 semapv:UnspecifiedMatching -OMIM:613236 KCNJ18 skos:exactMatch ncbigene:100134444 semapv:UnspecifiedMatching -OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:14940 semapv:UnspecifiedMatching -OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:PPP1R1C semapv:UnspecifiedMatching -OMIM:613240 PPP1R1C skos:exactMatch ncbigene:151242 semapv:UnspecifiedMatching -OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:14952 semapv:UnspecifiedMatching -OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:PPP1R14C semapv:UnspecifiedMatching -OMIM:613242 PPP1R14C skos:exactMatch ncbigene:81706 semapv:UnspecifiedMatching -OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:14947 semapv:UnspecifiedMatching -OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:PPP1R12C semapv:UnspecifiedMatching -OMIM:613245 PPP1R12C skos:exactMatch ncbigene:54776 semapv:UnspecifiedMatching -OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:9286 semapv:UnspecifiedMatching -OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:PPP1R1A semapv:UnspecifiedMatching -OMIM:613246 PPP1R1A skos:exactMatch ncbigene:5502 semapv:UnspecifiedMatching -OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:29393 semapv:UnspecifiedMatching -OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:PLIN4 semapv:UnspecifiedMatching -OMIM:613247 PLIN4 skos:exactMatch ncbigene:729359 semapv:UnspecifiedMatching -OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:33196 semapv:UnspecifiedMatching -OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:PLIN5 semapv:UnspecifiedMatching -OMIM:613248 PLIN5 skos:exactMatch ncbigene:440503 semapv:UnspecifiedMatching -OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:39430 semapv:UnspecifiedMatching -OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:EBLN1 semapv:UnspecifiedMatching -OMIM:613249 EBLN1 skos:exactMatch ncbigene:340900 semapv:UnspecifiedMatching -OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:25493 semapv:UnspecifiedMatching -OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:EBLN2 semapv:UnspecifiedMatching -OMIM:613250 EBLN2 skos:exactMatch ncbigene:55096 semapv:UnspecifiedMatching -OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:14953 semapv:UnspecifiedMatching -OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:PPP1R14D semapv:UnspecifiedMatching -OMIM:613256 PPP1R14D skos:exactMatch ncbigene:54866 semapv:UnspecifiedMatching -OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:14951 semapv:UnspecifiedMatching -OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:PPP1R15B semapv:UnspecifiedMatching -OMIM:613257 PPP1R15B skos:exactMatch ncbigene:84919 semapv:UnspecifiedMatching -OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:13796 semapv:UnspecifiedMatching -OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:C18orf54 semapv:UnspecifiedMatching -OMIM:613258 C18ORF54 skos:exactMatch ncbigene:162681 semapv:UnspecifiedMatching -OMIM:613259 RPTN skos:exactMatch hgnc.symbol:26809 semapv:UnspecifiedMatching -OMIM:613259 RPTN skos:exactMatch hgnc.symbol:RPTN semapv:UnspecifiedMatching -OMIM:613259 RPTN skos:exactMatch ncbigene:126638 semapv:UnspecifiedMatching -OMIM:613260 KPRP skos:exactMatch hgnc.symbol:31823 semapv:UnspecifiedMatching -OMIM:613260 KPRP skos:exactMatch hgnc.symbol:KPRP semapv:UnspecifiedMatching -OMIM:613260 KPRP skos:exactMatch ncbigene:448834 semapv:UnspecifiedMatching -OMIM:613261 PRTG skos:exactMatch hgnc.symbol:26373 semapv:UnspecifiedMatching -OMIM:613261 PRTG skos:exactMatch hgnc.symbol:PRTG semapv:UnspecifiedMatching -OMIM:613261 PRTG skos:exactMatch ncbigene:283659 semapv:UnspecifiedMatching -OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:18479 semapv:UnspecifiedMatching -OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:RSL24D1 semapv:UnspecifiedMatching -OMIM:613262 RSL24D1 skos:exactMatch ncbigene:51187 semapv:UnspecifiedMatching -OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:21026 semapv:UnspecifiedMatching -OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:SNHG5 semapv:UnspecifiedMatching -OMIM:613263 SNHG5 skos:exactMatch ncbigene:387066 semapv:UnspecifiedMatching -OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:32722 semapv:UnspecifiedMatching -OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:SNORD50B semapv:UnspecifiedMatching -OMIM:613264 SNORD50B skos:exactMatch ncbigene:692088 semapv:UnspecifiedMatching -OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:21305 semapv:UnspecifiedMatching -OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:KCTD3 semapv:UnspecifiedMatching -OMIM:613272 KCTD3 skos:exactMatch ncbigene:51133 semapv:UnspecifiedMatching -OMIM:613273 INIP skos:exactMatch hgnc.symbol:24994 semapv:UnspecifiedMatching -OMIM:613273 INIP skos:exactMatch hgnc.symbol:INIP semapv:UnspecifiedMatching -OMIM:613273 INIP skos:exactMatch ncbigene:58493 semapv:UnspecifiedMatching -OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:18234 semapv:UnspecifiedMatching -OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:MOCOS semapv:UnspecifiedMatching -OMIM:613274 MOCOS skos:exactMatch ncbigene:55034 semapv:UnspecifiedMatching -OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:15850 semapv:UnspecifiedMatching -OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:PPP1R16B semapv:UnspecifiedMatching -OMIM:613275 PPP1R16B skos:exactMatch ncbigene:26051 semapv:UnspecifiedMatching -OMIM:613276 USB1 skos:exactMatch hgnc.symbol:25792 semapv:UnspecifiedMatching -OMIM:613276 USB1 skos:exactMatch hgnc.symbol:USB1 semapv:UnspecifiedMatching -OMIM:613276 USB1 skos:exactMatch ncbigene:79650 semapv:UnspecifiedMatching -OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:25018 semapv:UnspecifiedMatching -OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:TMEM216 semapv:UnspecifiedMatching -OMIM:613277 TMEM216 skos:exactMatch ncbigene:51259 semapv:UnspecifiedMatching -OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:23845 semapv:UnspecifiedMatching -OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:SLX4 semapv:UnspecifiedMatching -OMIM:613278 SLX4 skos:exactMatch ncbigene:84464 semapv:UnspecifiedMatching -OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:20509 semapv:UnspecifiedMatching -OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:ZC3H14 semapv:UnspecifiedMatching -OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch ncbigene:79882 semapv:UnspecifiedMatching -OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch Orphanet:309854 semapv:UnspecifiedMatching -OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching -OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:30390 semapv:UnspecifiedMatching -OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:SNX20 semapv:UnspecifiedMatching -OMIM:613281 SNX20 skos:exactMatch ncbigene:124460 semapv:UnspecifiedMatching -OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:31673 semapv:UnspecifiedMatching -OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:GRXCR1 semapv:UnspecifiedMatching -OMIM:613283 GRXCR1 skos:exactMatch ncbigene:389207 semapv:UnspecifiedMatching -OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:32671 semapv:UnspecifiedMatching -OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:TRIM72 semapv:UnspecifiedMatching -OMIM:613288 TRIM72 skos:exactMatch ncbigene:493829 semapv:UnspecifiedMatching -OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:32925 semapv:UnspecifiedMatching -OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:ATXN8 semapv:UnspecifiedMatching -OMIM:613289 ATXN8 skos:exactMatch ncbigene:724066 semapv:UnspecifiedMatching -OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:28404 semapv:UnspecifiedMatching -OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:DENND1B semapv:UnspecifiedMatching -OMIM:613292 DENND1B skos:exactMatch ncbigene:163486 semapv:UnspecifiedMatching -OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:29242 semapv:UnspecifiedMatching -OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:SH3PXD2B semapv:UnspecifiedMatching -OMIM:613293 SH3PXD2B skos:exactMatch ncbigene:285590 semapv:UnspecifiedMatching -OMIM:613294 SAE1 skos:exactMatch hgnc.symbol:30660 semapv:UnspecifiedMatching -OMIM:613294 SAE1 skos:exactMatch hgnc.symbol:SAE1 semapv:UnspecifiedMatching -OMIM:613294 SAE1 skos:exactMatch ncbigene:10055 semapv:UnspecifiedMatching -OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:30661 semapv:UnspecifiedMatching -OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:UBA2 semapv:UnspecifiedMatching -OMIM:613295 UBA2 skos:exactMatch ncbigene:10054 semapv:UnspecifiedMatching -OMIM:613296 LAPTM4B skos:exactMatch UMLS:C1422129 semapv:UnspecifiedMatching -OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:13646 semapv:UnspecifiedMatching -OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:LAPTM4B semapv:UnspecifiedMatching -OMIM:613296 LAPTM4B skos:exactMatch ncbigene:55353 semapv:UnspecifiedMatching -OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:30550 semapv:UnspecifiedMatching -OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:MARCHF6 semapv:UnspecifiedMatching -OMIM:613297 MARCHF6 skos:exactMatch ncbigene:10299 semapv:UnspecifiedMatching -OMIM:613298 TICRR skos:exactMatch hgnc.symbol:28704 semapv:UnspecifiedMatching -OMIM:613298 TICRR skos:exactMatch hgnc.symbol:TICRR semapv:UnspecifiedMatching -OMIM:613298 TICRR skos:exactMatch ncbigene:90381 semapv:UnspecifiedMatching -OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:19367 semapv:UnspecifiedMatching -OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:FAM13A semapv:UnspecifiedMatching -OMIM:613299 FAM13A skos:exactMatch ncbigene:10144 semapv:UnspecifiedMatching -OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:19370 semapv:UnspecifiedMatching -OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:FAM13A-AS1 semapv:UnspecifiedMatching -OMIM:613300 FAM13AOS skos:exactMatch ncbigene:285512 semapv:UnspecifiedMatching -OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:22788 semapv:UnspecifiedMatching -OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:FEZF1 semapv:UnspecifiedMatching -OMIM:613301 FEZF1 skos:exactMatch ncbigene:389549 semapv:UnspecifiedMatching -OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:21900 semapv:UnspecifiedMatching -OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:ALKBH4 semapv:UnspecifiedMatching -OMIM:613302 ALKBH4 skos:exactMatch ncbigene:54784 semapv:UnspecifiedMatching -OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:25996 semapv:UnspecifiedMatching -OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:ALKBH5 semapv:UnspecifiedMatching -OMIM:613303 ALKBH5 skos:exactMatch ncbigene:54890 semapv:UnspecifiedMatching -OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:28243 semapv:UnspecifiedMatching -OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:ALKBH6 semapv:UnspecifiedMatching -OMIM:613304 ALKBH6 skos:exactMatch ncbigene:84964 semapv:UnspecifiedMatching -OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:21306 semapv:UnspecifiedMatching -OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:ALKBH7 semapv:UnspecifiedMatching -OMIM:613305 ALKBH7 skos:exactMatch ncbigene:84266 semapv:UnspecifiedMatching -OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:25189 semapv:UnspecifiedMatching -OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:ALKBH8 semapv:UnspecifiedMatching -OMIM:613306 ALKBH8 skos:exactMatch ncbigene:91801 semapv:UnspecifiedMatching -OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:21365 semapv:UnspecifiedMatching -OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:LYRM4 semapv:UnspecifiedMatching -OMIM:613311 LYRM4 skos:exactMatch ncbigene:57128 semapv:UnspecifiedMatching -OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:10348 semapv:UnspecifiedMatching -OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:RPL37A semapv:UnspecifiedMatching -OMIM:613314 RPL37A skos:exactMatch ncbigene:6168 semapv:UnspecifiedMatching -OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:10354 semapv:UnspecifiedMatching -OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:RPL41 semapv:UnspecifiedMatching -OMIM:613315 RPL41 skos:exactMatch ncbigene:6171 semapv:UnspecifiedMatching -OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:29323 semapv:UnspecifiedMatching -OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:WDFY4 semapv:UnspecifiedMatching -OMIM:613316 WDFY4 skos:exactMatch ncbigene:57705 semapv:UnspecifiedMatching -OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:20258 semapv:UnspecifiedMatching -OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:DCAF11 semapv:UnspecifiedMatching -OMIM:613317 DCAF11 skos:exactMatch ncbigene:80344 semapv:UnspecifiedMatching -OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:27482 semapv:UnspecifiedMatching -OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:GXYLT1 semapv:UnspecifiedMatching -OMIM:613321 GXYLT1 skos:exactMatch ncbigene:283464 semapv:UnspecifiedMatching -OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:33383 semapv:UnspecifiedMatching -OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:GXYLT2 semapv:UnspecifiedMatching -OMIM:613322 GXYLT2 skos:exactMatch ncbigene:727936 semapv:UnspecifiedMatching -OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:28572 semapv:UnspecifiedMatching -OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:FRMPD2 semapv:UnspecifiedMatching -OMIM:613323 FRMPD2 skos:exactMatch ncbigene:143162 semapv:UnspecifiedMatching -OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:23222 semapv:UnspecifiedMatching -OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:SPATA13 semapv:UnspecifiedMatching -OMIM:613324 SPATA13 skos:exactMatch ncbigene:221178 semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch UMLS:C1414144 semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch hgnc.symbol:3013 semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch hgnc.symbol:DPYS semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch ncbigene:1807 semapv:UnspecifiedMatching -OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:26077 semapv:UnspecifiedMatching -OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:MARCHF1 semapv:UnspecifiedMatching -OMIM:613331 MARCHF1 skos:exactMatch ncbigene:55016 semapv:UnspecifiedMatching -OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:28038 semapv:UnspecifiedMatching -OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:MARCHF2 semapv:UnspecifiedMatching -OMIM:613332 MARCHF2 skos:exactMatch ncbigene:51257 semapv:UnspecifiedMatching -OMIM:613333 MARCHF3 skos:exactMatch hgnc.symbol:28728 semapv:UnspecifiedMatching -OMIM:613333 MARCHF3 skos:exactMatch hgnc.symbol:MARCHF3 semapv:UnspecifiedMatching -OMIM:613333 MARCHF3 skos:exactMatch ncbigene:115123 semapv:UnspecifiedMatching -OMIM:613334 MARCHF7 skos:exactMatch hgnc.symbol:17393 semapv:UnspecifiedMatching -OMIM:613334 MARCHF7 skos:exactMatch hgnc.symbol:MARCHF7 semapv:UnspecifiedMatching -OMIM:613334 MARCHF7 skos:exactMatch ncbigene:64844 semapv:UnspecifiedMatching -OMIM:613335 MARCHF8 skos:exactMatch hgnc.symbol:23356 semapv:UnspecifiedMatching -OMIM:613335 MARCHF8 skos:exactMatch hgnc.symbol:MARCHF8 semapv:UnspecifiedMatching -OMIM:613335 MARCHF8 skos:exactMatch ncbigene:220972 semapv:UnspecifiedMatching -OMIM:613336 MARCHF9 skos:exactMatch hgnc.symbol:25139 semapv:UnspecifiedMatching -OMIM:613336 MARCHF9 skos:exactMatch hgnc.symbol:MARCHF9 semapv:UnspecifiedMatching -OMIM:613336 MARCHF9 skos:exactMatch ncbigene:92979 semapv:UnspecifiedMatching -OMIM:613337 MARCHF10 skos:exactMatch hgnc.symbol:26655 semapv:UnspecifiedMatching -OMIM:613337 MARCHF10 skos:exactMatch hgnc.symbol:MARCHF10 semapv:UnspecifiedMatching -OMIM:613337 MARCHF10 skos:exactMatch ncbigene:162333 semapv:UnspecifiedMatching -OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:33609 semapv:UnspecifiedMatching -OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:MARCHF11 semapv:UnspecifiedMatching -OMIM:613338 MARCHF11 skos:exactMatch ncbigene:441061 semapv:UnspecifiedMatching -OMIM:613344 KIAA1549 skos:exactMatch hgnc.symbol:22219 semapv:UnspecifiedMatching -OMIM:613344 KIAA1549 skos:exactMatch hgnc.symbol:KIAA1549 semapv:UnspecifiedMatching -OMIM:613344 KIAA1549 skos:exactMatch ncbigene:57670 semapv:UnspecifiedMatching -OMIM:613346 SHISA9 skos:exactMatch hgnc.symbol:37231 semapv:UnspecifiedMatching -OMIM:613346 SHISA9 skos:exactMatch hgnc.symbol:SHISA9 semapv:UnspecifiedMatching -OMIM:613346 SHISA9 skos:exactMatch ncbigene:729993 semapv:UnspecifiedMatching -OMIM:613349 OAT skos:exactMatch hgnc.symbol:8091 semapv:UnspecifiedMatching -OMIM:613349 OAT skos:exactMatch hgnc.symbol:OAT semapv:UnspecifiedMatching -OMIM:613349 OAT skos:exactMatch ncbigene:4942 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch UMLS:C0015708 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch UMLS:C0796274 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch UMLS:C1424064 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch UMLS:C4017306 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch hgnc.symbol:16187 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch hgnc.symbol:SLC52A3 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch ncbigene:113278 semapv:UnspecifiedMatching -OMIM:613351 ARHGAP18 skos:exactMatch hgnc.symbol:21035 semapv:UnspecifiedMatching -OMIM:613351 ARHGAP18 skos:exactMatch hgnc.symbol:ARHGAP18 semapv:UnspecifiedMatching -OMIM:613351 ARHGAP18 skos:exactMatch ncbigene:93663 semapv:UnspecifiedMatching -OMIM:613352 RSRC1 skos:exactMatch hgnc.symbol:24152 semapv:UnspecifiedMatching -OMIM:613352 RSRC1 skos:exactMatch hgnc.symbol:RSRC1 semapv:UnspecifiedMatching -OMIM:613352 RSRC1 skos:exactMatch ncbigene:51319 semapv:UnspecifiedMatching -OMIM:613353 mononeuropathy of the median nerve, mild skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching -OMIM:613354 TPRN skos:exactMatch hgnc.symbol:26894 semapv:UnspecifiedMatching -OMIM:613354 TPRN skos:exactMatch hgnc.symbol:TPRN semapv:UnspecifiedMatching -OMIM:613354 TPRN skos:exactMatch ncbigene:286262 semapv:UnspecifiedMatching -OMIM:613356 TRIL skos:exactMatch hgnc.symbol:22200 semapv:UnspecifiedMatching -OMIM:613356 TRIL skos:exactMatch hgnc.symbol:TRIL semapv:UnspecifiedMatching -OMIM:613356 TRIL skos:exactMatch ncbigene:9865 semapv:UnspecifiedMatching -OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:25922 semapv:UnspecifiedMatching -OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:FIBCD1 semapv:UnspecifiedMatching -OMIM:613357 FIBCD1 skos:exactMatch ncbigene:84929 semapv:UnspecifiedMatching -OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:28114 semapv:UnspecifiedMatching -OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:ALDH16A1 semapv:UnspecifiedMatching -OMIM:613358 ALDH16A1 skos:exactMatch ncbigene:126133 semapv:UnspecifiedMatching -OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:28751 semapv:UnspecifiedMatching -OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:LYPD6 semapv:UnspecifiedMatching -OMIM:613359 LYPD6 skos:exactMatch ncbigene:130574 semapv:UnspecifiedMatching -OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:28769 semapv:UnspecifiedMatching -OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:DRAM2 semapv:UnspecifiedMatching -OMIM:613360 DRAM2 skos:exactMatch ncbigene:128338 semapv:UnspecifiedMatching -OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:21573 semapv:UnspecifiedMatching -OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:SLC18B1 semapv:UnspecifiedMatching -OMIM:613361 SLC18B1 skos:exactMatch ncbigene:116843 semapv:UnspecifiedMatching -OMIM:613362 CINP skos:exactMatch hgnc.symbol:23789 semapv:UnspecifiedMatching -OMIM:613362 CINP skos:exactMatch hgnc.symbol:CINP semapv:UnspecifiedMatching -OMIM:613362 CINP skos:exactMatch ncbigene:51550 semapv:UnspecifiedMatching -OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:28296 semapv:UnspecifiedMatching -OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:DYNC2I2 semapv:UnspecifiedMatching -OMIM:613363 WDR34 skos:exactMatch ncbigene:89891 semapv:UnspecifiedMatching -OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:23613 semapv:UnspecifiedMatching -OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:SLCO6A1 semapv:UnspecifiedMatching -OMIM:613365 SLCO6A1 skos:exactMatch ncbigene:133482 semapv:UnspecifiedMatching -OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:30603 semapv:UnspecifiedMatching -OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:SLC10A6 semapv:UnspecifiedMatching -OMIM:613366 SLC10A6 skos:exactMatch ncbigene:345274 semapv:UnspecifiedMatching -OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:25397 semapv:UnspecifiedMatching -OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:LIN54 semapv:UnspecifiedMatching -OMIM:613367 LIN54 skos:exactMatch ncbigene:132660 semapv:UnspecifiedMatching -OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:29268 semapv:UnspecifiedMatching -OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:CARNS1 semapv:UnspecifiedMatching -OMIM:613368 CARNS1 skos:exactMatch ncbigene:57571 semapv:UnspecifiedMatching -OMIM:613369 DDX42 skos:exactMatch UMLS:C1425699 semapv:UnspecifiedMatching -OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:18676 semapv:UnspecifiedMatching -OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:DDX42 semapv:UnspecifiedMatching -OMIM:613369 DDX42 skos:exactMatch ncbigene:11325 semapv:UnspecifiedMatching -OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:23039 semapv:UnspecifiedMatching -OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:UFL1 semapv:UnspecifiedMatching -OMIM:613372 UFL1 skos:exactMatch ncbigene:23376 semapv:UnspecifiedMatching -OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:25489 semapv:UnspecifiedMatching -OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:YEATS2 semapv:UnspecifiedMatching -OMIM:613373 YEATS2 skos:exactMatch ncbigene:55689 semapv:UnspecifiedMatching -OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:25156 semapv:UnspecifiedMatching -OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:SGF29 semapv:UnspecifiedMatching -OMIM:613374 CCDC101 skos:exactMatch ncbigene:112869 semapv:UnspecifiedMatching -OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching -OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching -OMIM:613377 SH3RF2 skos:exactMatch UMLS:C1428570 semapv:UnspecifiedMatching -OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:26299 semapv:UnspecifiedMatching -OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:SH3RF2 semapv:UnspecifiedMatching -OMIM:613377 SH3RF2 skos:exactMatch ncbigene:153769 semapv:UnspecifiedMatching -OMIM:613378 A2LD1 skos:exactMatch hgnc.symbol:25100 semapv:UnspecifiedMatching -OMIM:613378 A2LD1 skos:exactMatch hgnc.symbol:GGACT semapv:UnspecifiedMatching -OMIM:613378 A2LD1 skos:exactMatch ncbigene:87769 semapv:UnspecifiedMatching -OMIM:613379 CMBL skos:exactMatch hgnc.symbol:25090 semapv:UnspecifiedMatching -OMIM:613379 CMBL skos:exactMatch hgnc.symbol:CMBL semapv:UnspecifiedMatching -OMIM:613379 CMBL skos:exactMatch ncbigene:134147 semapv:UnspecifiedMatching -OMIM:613380 HMX3 skos:exactMatch hgnc.symbol:5019 semapv:UnspecifiedMatching -OMIM:613380 HMX3 skos:exactMatch hgnc.symbol:HMX3 semapv:UnspecifiedMatching -OMIM:613380 HMX3 skos:exactMatch ncbigene:340784 semapv:UnspecifiedMatching -OMIM:613381 CBS skos:exactMatch hgnc.symbol:1550 semapv:UnspecifiedMatching -OMIM:613381 CBS skos:exactMatch hgnc.symbol:CBS semapv:UnspecifiedMatching -OMIM:613381 CBS skos:exactMatch ncbigene:875 semapv:UnspecifiedMatching -OMIM:613383 ANKRD54 skos:exactMatch hgnc.symbol:25185 semapv:UnspecifiedMatching -OMIM:613383 ANKRD54 skos:exactMatch hgnc.symbol:ANKRD54 semapv:UnspecifiedMatching -OMIM:613383 ANKRD54 skos:exactMatch ncbigene:129138 semapv:UnspecifiedMatching -OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:20569 semapv:UnspecifiedMatching -OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:CCNL1 semapv:UnspecifiedMatching -OMIM:613384 CCNL1 skos:exactMatch ncbigene:57018 semapv:UnspecifiedMatching -OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch Orphanet:228426 semapv:UnspecifiedMatching -OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching -OMIM:613386 POMP skos:exactMatch hgnc.symbol:20330 semapv:UnspecifiedMatching -OMIM:613386 POMP skos:exactMatch hgnc.symbol:POMP semapv:UnspecifiedMatching -OMIM:613386 POMP skos:exactMatch ncbigene:51371 semapv:UnspecifiedMatching -OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:13819 semapv:UnspecifiedMatching -OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:SLCO1C1 semapv:UnspecifiedMatching -OMIM:613389 SLCO1C1 skos:exactMatch ncbigene:53919 semapv:UnspecifiedMatching -OMIM:613394 MIR138-1 skos:exactMatch UMLS:C1537791 semapv:UnspecifiedMatching -OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:31524 semapv:UnspecifiedMatching -OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:MIR138-1 semapv:UnspecifiedMatching -OMIM:613394 MIR138-1 skos:exactMatch ncbigene:406929 semapv:UnspecifiedMatching -OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:31525 semapv:UnspecifiedMatching -OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:MIR138-2 semapv:UnspecifiedMatching -OMIM:613395 MIR138-2 skos:exactMatch ncbigene:406930 semapv:UnspecifiedMatching -OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:16707 semapv:UnspecifiedMatching -OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:DSCR8 semapv:UnspecifiedMatching -OMIM:613396 DSCR8 skos:exactMatch ncbigene:84677 semapv:UnspecifiedMatching -OMIM:613397 AVIL skos:exactMatch hgnc.symbol:14188 semapv:UnspecifiedMatching -OMIM:613397 AVIL skos:exactMatch hgnc.symbol:AVIL semapv:UnspecifiedMatching -OMIM:613397 AVIL skos:exactMatch ncbigene:10677 semapv:UnspecifiedMatching -OMIM:613398 warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching -OMIM:613398 warsaw breakage syndrome skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching -OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:30576 semapv:UnspecifiedMatching -OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:ADI1 semapv:UnspecifiedMatching -OMIM:613400 ADI1 skos:exactMatch ncbigene:55256 semapv:UnspecifiedMatching -OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:20347 semapv:UnspecifiedMatching -OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:VIPAS39 semapv:UnspecifiedMatching -OMIM:613401 VIPAS39 skos:exactMatch ncbigene:63894 semapv:UnspecifiedMatching -OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch UMLS:C1823386 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:26038 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:TMEM127 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch ncbigene:55654 semapv:UnspecifiedMatching -OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:38221 semapv:UnspecifiedMatching -OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:MIR2861 semapv:UnspecifiedMatching -OMIM:613405 MIR2861 skos:exactMatch ncbigene:100422910 semapv:UnspecifiedMatching -OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:26478 semapv:UnspecifiedMatching -OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:CCDC122 semapv:UnspecifiedMatching -OMIM:613408 CCDC122 skos:exactMatch ncbigene:160857 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch UMLS:C1824389 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:26789 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:LACC1 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch ncbigene:144811 semapv:UnspecifiedMatching -OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:22407 semapv:UnspecifiedMatching -OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:TMEM106B semapv:UnspecifiedMatching -OMIM:613413 TMEM106B skos:exactMatch ncbigene:54664 semapv:UnspecifiedMatching -OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:33808 semapv:UnspecifiedMatching -OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:IL17REL semapv:UnspecifiedMatching -OMIM:613414 IL17REL skos:exactMatch ncbigene:400935 semapv:UnspecifiedMatching -OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:31736 semapv:UnspecifiedMatching -OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:CKMT1A semapv:UnspecifiedMatching -OMIM:613415 CKMT1A skos:exactMatch ncbigene:548596 semapv:UnspecifiedMatching -OMIM:613416 SCIN skos:exactMatch hgnc.symbol:21695 semapv:UnspecifiedMatching -OMIM:613416 SCIN skos:exactMatch hgnc.symbol:SCIN semapv:UnspecifiedMatching -OMIM:613416 SCIN skos:exactMatch ncbigene:85477 semapv:UnspecifiedMatching -OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:20596 semapv:UnspecifiedMatching -OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:SUPT20H semapv:UnspecifiedMatching -OMIM:613417 FAM48A skos:exactMatch ncbigene:55578 semapv:UnspecifiedMatching -OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:23709 semapv:UnspecifiedMatching -OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:ZSCAN4 semapv:UnspecifiedMatching -OMIM:613419 ZSCAN4 skos:exactMatch ncbigene:201516 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch UMLS:C1425395 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch UMLS:C1867020 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:18249 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:KCTD1 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch ncbigene:284252 semapv:UnspecifiedMatching -OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:23236 semapv:UnspecifiedMatching -OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:KCTD10 semapv:UnspecifiedMatching -OMIM:613421 KCTD10 skos:exactMatch ncbigene:83892 semapv:UnspecifiedMatching -OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:21294 semapv:UnspecifiedMatching -OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:KCTD2 semapv:UnspecifiedMatching -OMIM:613422 KCTD2 skos:exactMatch ncbigene:23510 semapv:UnspecifiedMatching -OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:29244 semapv:UnspecifiedMatching -OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:KCTD16 semapv:UnspecifiedMatching -OMIM:613423 KCTD16 skos:exactMatch ncbigene:57528 semapv:UnspecifiedMatching -OMIM:613425 PCARE skos:exactMatch hgnc.symbol:34383 semapv:UnspecifiedMatching -OMIM:613425 PCARE skos:exactMatch hgnc.symbol:PCARE semapv:UnspecifiedMatching -OMIM:613425 PCARE skos:exactMatch ncbigene:388939 semapv:UnspecifiedMatching -OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:26976 semapv:UnspecifiedMatching -OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:ANAPC16 semapv:UnspecifiedMatching -OMIM:613427 ANAPC16 skos:exactMatch ncbigene:119504 semapv:UnspecifiedMatching -OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:25530 semapv:UnspecifiedMatching -OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:HAUS2 semapv:UnspecifiedMatching -OMIM:613429 HAUS2 skos:exactMatch ncbigene:55142 semapv:UnspecifiedMatching -OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:28719 semapv:UnspecifiedMatching -OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:HAUS3 semapv:UnspecifiedMatching -OMIM:613430 HAUS3 skos:exactMatch ncbigene:79441 semapv:UnspecifiedMatching -OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:20163 semapv:UnspecifiedMatching -OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:HAUS4 semapv:UnspecifiedMatching -OMIM:613431 HAUS4 skos:exactMatch ncbigene:54930 semapv:UnspecifiedMatching -OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:29130 semapv:UnspecifiedMatching -OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:HAUS5 semapv:UnspecifiedMatching -OMIM:613432 HAUS5 skos:exactMatch ncbigene:23354 semapv:UnspecifiedMatching -OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:25948 semapv:UnspecifiedMatching -OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:HAUS6 semapv:UnspecifiedMatching -OMIM:613433 HAUS6 skos:exactMatch ncbigene:54801 semapv:UnspecifiedMatching -OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:30532 semapv:UnspecifiedMatching -OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:HAUS8 semapv:UnspecifiedMatching -OMIM:613434 HAUS8 skos:exactMatch ncbigene:93323 semapv:UnspecifiedMatching -OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:29002 semapv:UnspecifiedMatching -OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:FCHO1 semapv:UnspecifiedMatching -OMIM:613437 FCHO1 skos:exactMatch ncbigene:23149 semapv:UnspecifiedMatching -OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:25180 semapv:UnspecifiedMatching -OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:FCHO2 semapv:UnspecifiedMatching -OMIM:613438 FCHO2 skos:exactMatch ncbigene:115548 semapv:UnspecifiedMatching -OMIM:613439 CNST skos:exactMatch hgnc.symbol:26486 semapv:UnspecifiedMatching -OMIM:613439 CNST skos:exactMatch hgnc.symbol:CNST semapv:UnspecifiedMatching -OMIM:613439 CNST skos:exactMatch ncbigene:163882 semapv:UnspecifiedMatching -OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:11653 semapv:UnspecifiedMatching -OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:TCN2 semapv:UnspecifiedMatching -OMIM:613441 TCN2 skos:exactMatch ncbigene:6948 semapv:UnspecifiedMatching -OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:14171 semapv:UnspecifiedMatching -OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:PTX4 semapv:UnspecifiedMatching -OMIM:613442 PTX4 skos:exactMatch ncbigene:390667 semapv:UnspecifiedMatching -OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:26690 semapv:UnspecifiedMatching -OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:CEP120 semapv:UnspecifiedMatching -OMIM:613446 CEP120 skos:exactMatch ncbigene:153241 semapv:UnspecifiedMatching -OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:25083 semapv:UnspecifiedMatching -OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:SPICE1 semapv:UnspecifiedMatching -OMIM:613447 SPICE1 skos:exactMatch ncbigene:152185 semapv:UnspecifiedMatching -OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:33830 semapv:UnspecifiedMatching -OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:MZT1 semapv:UnspecifiedMatching -OMIM:613448 MZT1 skos:exactMatch ncbigene:440145 semapv:UnspecifiedMatching -OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:33187 semapv:UnspecifiedMatching -OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:MZT2A semapv:UnspecifiedMatching -OMIM:613449 FAM128A skos:exactMatch ncbigene:653784 semapv:UnspecifiedMatching -OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:25886 semapv:UnspecifiedMatching -OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:MZT2B semapv:UnspecifiedMatching -OMIM:613450 MZT2B skos:exactMatch ncbigene:80097 semapv:UnspecifiedMatching -OMIM:613451 frontonasal dysplasia 2 skos:exactMatch Orphanet:228390 semapv:UnspecifiedMatching -OMIM:613451 frontonasal dysplasia 2 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching -OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:25243 semapv:UnspecifiedMatching -OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:CATSPERG semapv:UnspecifiedMatching -OMIM:613452 CATSPERG skos:exactMatch ncbigene:57828 semapv:UnspecifiedMatching -OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:24008 semapv:UnspecifiedMatching -OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:MIA3 semapv:UnspecifiedMatching -OMIM:613455 MIA3 skos:exactMatch ncbigene:375056 semapv:UnspecifiedMatching -OMIM:613456 frontonasal dysplasia 3 skos:exactMatch Orphanet:306542 semapv:UnspecifiedMatching -OMIM:613456 frontonasal dysplasia 3 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching -OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:29477 semapv:UnspecifiedMatching -OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:LEPROT semapv:UnspecifiedMatching -OMIM:613461 LEPROT skos:exactMatch ncbigene:54741 semapv:UnspecifiedMatching -OMIM:613465 NME7 skos:exactMatch hgnc.symbol:20461 semapv:UnspecifiedMatching -OMIM:613465 NME7 skos:exactMatch hgnc.symbol:NME7 semapv:UnspecifiedMatching -OMIM:613465 NME7 skos:exactMatch ncbigene:29922 semapv:UnspecifiedMatching -OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:8867 semapv:UnspecifiedMatching -OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:PFDN2 semapv:UnspecifiedMatching -OMIM:613466 PFDN2 skos:exactMatch ncbigene:5202 semapv:UnspecifiedMatching -OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:25817 semapv:UnspecifiedMatching -OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:TUT7 semapv:UnspecifiedMatching -OMIM:613467 ZCCHC6 skos:exactMatch ncbigene:79670 semapv:UnspecifiedMatching -OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:735 semapv:UnspecifiedMatching -OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:ASAH1 semapv:UnspecifiedMatching -OMIM:613468 ASAH1 skos:exactMatch ncbigene:427 semapv:UnspecifiedMatching -OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:18374 semapv:UnspecifiedMatching -OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:HPSE2 semapv:UnspecifiedMatching -OMIM:613469 HPSE2 skos:exactMatch ncbigene:60495 semapv:UnspecifiedMatching -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching -OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:19703 semapv:UnspecifiedMatching -OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:ULK3 semapv:UnspecifiedMatching -OMIM:613472 ULK3 skos:exactMatch ncbigene:25989 semapv:UnspecifiedMatching -OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:13490 semapv:UnspecifiedMatching -OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:WDR7 semapv:UnspecifiedMatching -OMIM:613473 WDR7 skos:exactMatch ncbigene:23335 semapv:UnspecifiedMatching -OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:25206 semapv:UnspecifiedMatching -OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:ZFAND2B semapv:UnspecifiedMatching -OMIM:613474 ZFAND2B skos:exactMatch ncbigene:130617 semapv:UnspecifiedMatching -OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:21374 semapv:UnspecifiedMatching -OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:RRP36 semapv:UnspecifiedMatching -OMIM:613475 RRP36 skos:exactMatch ncbigene:88745 semapv:UnspecifiedMatching -OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:24711 semapv:UnspecifiedMatching -OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:MFSD6 semapv:UnspecifiedMatching -OMIM:613476 MFSD6 skos:exactMatch ncbigene:54842 semapv:UnspecifiedMatching -OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching -OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:30181 semapv:UnspecifiedMatching -OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:CCDC106 semapv:UnspecifiedMatching -OMIM:613478 CCDC106 skos:exactMatch ncbigene:29903 semapv:UnspecifiedMatching -OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:29511 semapv:UnspecifiedMatching -OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:CEP131 semapv:UnspecifiedMatching -OMIM:613479 CEP131 skos:exactMatch ncbigene:22994 semapv:UnspecifiedMatching -OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:30723 semapv:UnspecifiedMatching -OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:CCDC62 semapv:UnspecifiedMatching -OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch ncbigene:84660 semapv:UnspecifiedMatching -OMIM:613482 CCNL2 skos:exactMatch UMLS:C1427009 semapv:UnspecifiedMatching -OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:20570 semapv:UnspecifiedMatching -OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:CCNL2 semapv:UnspecifiedMatching -OMIM:613482 CCNL2 skos:exactMatch ncbigene:81669 semapv:UnspecifiedMatching -OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:11963 semapv:UnspecifiedMatching -OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:BHLHE22 semapv:UnspecifiedMatching -OMIM:613483 BHLHE22 skos:exactMatch ncbigene:27319 semapv:UnspecifiedMatching -OMIM:613484 SPEN skos:exactMatch UMLS:C1539835 semapv:UnspecifiedMatching -OMIM:613484 SPEN skos:exactMatch hgnc.symbol:17575 semapv:UnspecifiedMatching -OMIM:613484 SPEN skos:exactMatch hgnc.symbol:SPEN semapv:UnspecifiedMatching -OMIM:613484 SPEN skos:exactMatch ncbigene:23013 semapv:UnspecifiedMatching -OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:32791 semapv:UnspecifiedMatching -OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:MIR33B semapv:UnspecifiedMatching -OMIM:613486 MIR33B skos:exactMatch ncbigene:693120 semapv:UnspecifiedMatching -OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:31589 semapv:UnspecifiedMatching -OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:MIR212 semapv:UnspecifiedMatching -OMIM:613487 MIR212 skos:exactMatch ncbigene:406994 semapv:UnspecifiedMatching -OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:18356 semapv:UnspecifiedMatching -OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:ACER1 semapv:UnspecifiedMatching -OMIM:613491 ACER1 skos:exactMatch ncbigene:125981 semapv:UnspecifiedMatching -OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:23675 semapv:UnspecifiedMatching -OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:ACER2 semapv:UnspecifiedMatching -OMIM:613492 ACER2 skos:exactMatch ncbigene:340485 semapv:UnspecifiedMatching -OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching -OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching -OMIM:613497 LIPA skos:exactMatch hgnc.symbol:6617 semapv:UnspecifiedMatching -OMIM:613497 LIPA skos:exactMatch hgnc.symbol:LIPA semapv:UnspecifiedMatching -OMIM:613497 LIPA skos:exactMatch ncbigene:3988 semapv:UnspecifiedMatching -OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:18729 semapv:UnspecifiedMatching -OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:H2AC1 semapv:UnspecifiedMatching -OMIM:613499 HIST1H2AA skos:exactMatch ncbigene:221613 semapv:UnspecifiedMatching -OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:229717 semapv:UnspecifiedMatching -OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:33110 semapv:UnspecifiedMatching -OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching -OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:4943 semapv:UnspecifiedMatching -OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:HLA-DQA2 semapv:UnspecifiedMatching -OMIM:613503 HLA-DQA2 skos:exactMatch ncbigene:3118 semapv:UnspecifiedMatching -OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:20760 semapv:UnspecifiedMatching -OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:ZFYVE21 semapv:UnspecifiedMatching -OMIM:613504 ZFYVE21 skos:exactMatch ncbigene:79038 semapv:UnspecifiedMatching -OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:31409 semapv:UnspecifiedMatching -OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:LRRC26 semapv:UnspecifiedMatching -OMIM:613505 LRRC26 skos:exactMatch ncbigene:389816 semapv:UnspecifiedMatching -OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 semapv:UnspecifiedMatching -OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch UMLS:C3150756 semapv:UnspecifiedMatching -OMIM:613510 LAMTOR1 skos:exactMatch hgnc.symbol:26068 semapv:UnspecifiedMatching -OMIM:613510 LAMTOR1 skos:exactMatch hgnc.symbol:LAMTOR1 semapv:UnspecifiedMatching -OMIM:613510 LAMTOR1 skos:exactMatch ncbigene:55004 semapv:UnspecifiedMatching -OMIM:613511 SPINK9 skos:exactMatch hgnc.symbol:32951 semapv:UnspecifiedMatching -OMIM:613511 SPINK9 skos:exactMatch hgnc.symbol:SPINK9 semapv:UnspecifiedMatching -OMIM:613511 SPINK9 skos:exactMatch ncbigene:643394 semapv:UnspecifiedMatching -OMIM:613512 ZBED6 skos:exactMatch hgnc.symbol:33273 semapv:UnspecifiedMatching -OMIM:613512 ZBED6 skos:exactMatch hgnc.symbol:ZBED6 semapv:UnspecifiedMatching -OMIM:613512 ZBED6 skos:exactMatch ncbigene:100381270 semapv:UnspecifiedMatching -OMIM:613513 ZC3H11A skos:exactMatch hgnc.symbol:29093 semapv:UnspecifiedMatching -OMIM:613513 ZC3H11A skos:exactMatch hgnc.symbol:ZC3H11A semapv:UnspecifiedMatching -OMIM:613513 ZC3H11A skos:exactMatch ncbigene:9877 semapv:UnspecifiedMatching -OMIM:613514 ZP4 skos:exactMatch hgnc.symbol:15770 semapv:UnspecifiedMatching -OMIM:613514 ZP4 skos:exactMatch hgnc.symbol:ZP4 semapv:UnspecifiedMatching -OMIM:613514 ZP4 skos:exactMatch ncbigene:57829 semapv:UnspecifiedMatching -OMIM:613515 ATG14 skos:exactMatch UMLS:C3146639 semapv:UnspecifiedMatching -OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:19962 semapv:UnspecifiedMatching -OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:ATG14 semapv:UnspecifiedMatching -OMIM:613515 ATG14 skos:exactMatch ncbigene:22863 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch UMLS:C1537447 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:28991 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:RUBCN semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch ncbigene:9711 semapv:UnspecifiedMatching -OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:21740 semapv:UnspecifiedMatching -OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:FGD6 semapv:UnspecifiedMatching -OMIM:613520 FGD6 skos:exactMatch ncbigene:55785 semapv:UnspecifiedMatching -OMIM:613521 UROD skos:exactMatch hgnc.symbol:12591 semapv:UnspecifiedMatching -OMIM:613521 UROD skos:exactMatch hgnc.symbol:UROD semapv:UnspecifiedMatching -OMIM:613521 UROD skos:exactMatch ncbigene:7389 semapv:UnspecifiedMatching -OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:1012 semapv:UnspecifiedMatching -OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:OPN1SW semapv:UnspecifiedMatching -OMIM:613522 OPN1SW skos:exactMatch ncbigene:611 semapv:UnspecifiedMatching -OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:10671 semapv:UnspecifiedMatching -OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:SDCCAG8 semapv:UnspecifiedMatching -OMIM:613524 SDCCAG8 skos:exactMatch ncbigene:10806 semapv:UnspecifiedMatching -OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:17202 semapv:UnspecifiedMatching -OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:PSORS1C1 semapv:UnspecifiedMatching -OMIM:613525 seek1 gene skos:exactMatch ncbigene:170679 semapv:UnspecifiedMatching -OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:17199 semapv:UnspecifiedMatching -OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:PSORS1C2 semapv:UnspecifiedMatching -OMIM:613526 spr1 gene skos:exactMatch ncbigene:170680 semapv:UnspecifiedMatching -OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:30290 semapv:UnspecifiedMatching -OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:DNAJC27 semapv:UnspecifiedMatching -OMIM:613527 DNAJC27 skos:exactMatch ncbigene:51277 semapv:UnspecifiedMatching -OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:19265 semapv:UnspecifiedMatching -OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:SYT9 semapv:UnspecifiedMatching -OMIM:613528 SYT9 skos:exactMatch ncbigene:143425 semapv:UnspecifiedMatching -OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:29298 semapv:UnspecifiedMatching -OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:CEP152 semapv:UnspecifiedMatching -OMIM:613529 CEP152 skos:exactMatch ncbigene:22995 semapv:UnspecifiedMatching -OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:9589 semapv:UnspecifiedMatching -OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:PTENP1 semapv:UnspecifiedMatching -OMIM:613531 PTENP1 skos:exactMatch ncbigene:11191 semapv:UnspecifiedMatching -OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:30273 semapv:UnspecifiedMatching -OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:RAB8B semapv:UnspecifiedMatching -OMIM:613532 RAB8B skos:exactMatch ncbigene:51762 semapv:UnspecifiedMatching -OMIM:613534 FAN1 skos:exactMatch hgnc.symbol:29170 semapv:UnspecifiedMatching -OMIM:613534 FAN1 skos:exactMatch hgnc.symbol:FAN1 semapv:UnspecifiedMatching -OMIM:613534 FAN1 skos:exactMatch ncbigene:22909 semapv:UnspecifiedMatching -OMIM:613535 KIAA0319L skos:exactMatch hgnc.symbol:30071 semapv:UnspecifiedMatching -OMIM:613535 KIAA0319L skos:exactMatch hgnc.symbol:KIAA0319L semapv:UnspecifiedMatching -OMIM:613535 KIAA0319L skos:exactMatch ncbigene:79932 semapv:UnspecifiedMatching -OMIM:613536 LEKR1 skos:exactMatch hgnc.symbol:33765 semapv:UnspecifiedMatching -OMIM:613536 LEKR1 skos:exactMatch hgnc.symbol:LEKR1 semapv:UnspecifiedMatching -OMIM:613536 LEKR1 skos:exactMatch ncbigene:389170 semapv:UnspecifiedMatching -OMIM:613537 NLRC5 skos:exactMatch hgnc.symbol:29933 semapv:UnspecifiedMatching -OMIM:613537 NLRC5 skos:exactMatch hgnc.symbol:NLRC5 semapv:UnspecifiedMatching -OMIM:613537 NLRC5 skos:exactMatch ncbigene:84166 semapv:UnspecifiedMatching -OMIM:613538 FEM1A skos:exactMatch hgnc.symbol:16934 semapv:UnspecifiedMatching -OMIM:613538 FEM1A skos:exactMatch hgnc.symbol:FEM1A semapv:UnspecifiedMatching -OMIM:613538 FEM1A skos:exactMatch ncbigene:55527 semapv:UnspecifiedMatching -OMIM:613539 FEM1B skos:exactMatch hgnc.symbol:3649 semapv:UnspecifiedMatching -OMIM:613539 FEM1B skos:exactMatch hgnc.symbol:FEM1B semapv:UnspecifiedMatching -OMIM:613539 FEM1B skos:exactMatch ncbigene:10116 semapv:UnspecifiedMatching -OMIM:613540 SPTSSA skos:exactMatch hgnc.symbol:20361 semapv:UnspecifiedMatching -OMIM:613540 SPTSSA skos:exactMatch hgnc.symbol:SPTSSA semapv:UnspecifiedMatching -OMIM:613540 SPTSSA skos:exactMatch ncbigene:171546 semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch UMLS:C2240303 semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch UMLS:C3150801 semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch UMLS:C3539506 semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch hgnc.symbol:26784 semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch hgnc.symbol:MTRFR semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch ncbigene:91574 semapv:UnspecifiedMatching -OMIM:613542 MTRF1L skos:exactMatch hgnc.symbol:21051 semapv:UnspecifiedMatching -OMIM:613542 MTRF1L skos:exactMatch hgnc.symbol:MTRF1L semapv:UnspecifiedMatching -OMIM:613542 MTRF1L skos:exactMatch ncbigene:54516 semapv:UnspecifiedMatching -OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:19046 semapv:UnspecifiedMatching -OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:SLCO5A1 semapv:UnspecifiedMatching -OMIM:613543 SLCO5A1 skos:exactMatch ncbigene:81796 semapv:UnspecifiedMatching -OMIM:613550 nephronophthisis 11 skos:exactMatch Orphanet:84081 semapv:UnspecifiedMatching -OMIM:613550 nephronophthisis 11 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching -OMIM:613552 GSAP skos:exactMatch hgnc.symbol:28042 semapv:UnspecifiedMatching -OMIM:613552 GSAP skos:exactMatch hgnc.symbol:GSAP semapv:UnspecifiedMatching -OMIM:613552 GSAP skos:exactMatch ncbigene:54103 semapv:UnspecifiedMatching -OMIM:613553 XPNPEP3 skos:exactMatch hgnc.symbol:28052 semapv:UnspecifiedMatching -OMIM:613553 XPNPEP3 skos:exactMatch hgnc.symbol:XPNPEP3 semapv:UnspecifiedMatching -OMIM:613553 XPNPEP3 skos:exactMatch ncbigene:63929 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch UMLS:C2680470 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch UMLS:C5394586 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch UMLS:C5394587 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch hgnc.symbol:28313 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch hgnc.symbol:TET3 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch ncbigene:200424 semapv:UnspecifiedMatching -OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:32915 semapv:UnspecifiedMatching -OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:MIR659 semapv:UnspecifiedMatching -OMIM:613556 MIR659 skos:exactMatch ncbigene:724029 semapv:UnspecifiedMatching -OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:23373 semapv:UnspecifiedMatching -OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:NTMT1 semapv:UnspecifiedMatching -OMIM:613560 NTMT1 skos:exactMatch ncbigene:28989 semapv:UnspecifiedMatching -OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:31910 semapv:UnspecifiedMatching -OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:FCRL6 semapv:UnspecifiedMatching -OMIM:613562 FCRL6 skos:exactMatch ncbigene:343413 semapv:UnspecifiedMatching -OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:12500 semapv:UnspecifiedMatching -OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:UBE4B semapv:UnspecifiedMatching -OMIM:613565 UBE4B skos:exactMatch ncbigene:10277 semapv:UnspecifiedMatching -OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:13050 semapv:UnspecifiedMatching -OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:ZMYM6 semapv:UnspecifiedMatching -OMIM:613567 ZMYM6 skos:exactMatch ncbigene:9204 semapv:UnspecifiedMatching -OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:13055 semapv:UnspecifiedMatching -OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:ZMYM4 semapv:UnspecifiedMatching -OMIM:613568 ZMYM4 skos:exactMatch ncbigene:9202 semapv:UnspecifiedMatching -OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:14210 semapv:UnspecifiedMatching -OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:SUN2 semapv:UnspecifiedMatching -OMIM:613569 SUN2 skos:exactMatch ncbigene:25777 semapv:UnspecifiedMatching -OMIM:613570 LDAH skos:exactMatch hgnc.symbol:26145 semapv:UnspecifiedMatching -OMIM:613570 LDAH skos:exactMatch hgnc.symbol:LDAH semapv:UnspecifiedMatching -OMIM:613570 LDAH skos:exactMatch ncbigene:60526 semapv:UnspecifiedMatching -OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:18510 semapv:UnspecifiedMatching -OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:GPRC6A semapv:UnspecifiedMatching -OMIM:613572 GPRC6A skos:exactMatch ncbigene:222545 semapv:UnspecifiedMatching -OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:23704 semapv:UnspecifiedMatching -OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:TTC39B semapv:UnspecifiedMatching -OMIM:613574 TTC39B skos:exactMatch ncbigene:158219 semapv:UnspecifiedMatching -OMIM:613575 retinitis pigmentosa 55 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:613575 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1823245 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1842531 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C2829265 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3892048 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:29203 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:TBC1D24 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch ncbigene:57465 semapv:UnspecifiedMatching -OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:9486 semapv:UnspecifiedMatching -OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:PRSS3 semapv:UnspecifiedMatching -OMIM:613578 PRSS3 skos:exactMatch ncbigene:5646 semapv:UnspecifiedMatching -OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:14556 semapv:UnspecifiedMatching -OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:CLEC6A semapv:UnspecifiedMatching -OMIM:613579 CLEC6A skos:exactMatch ncbigene:93978 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C2681211 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C3150127 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C4017315 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch UMLS:C4017316 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:28027 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:WDPCP semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch ncbigene:51057 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C1823826 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C3501830 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch UMLS:C4017318 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:24502 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:WDR62 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch ncbigene:284403 semapv:UnspecifiedMatching -OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:26777 semapv:UnspecifiedMatching -OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:ALDH1L2 semapv:UnspecifiedMatching -OMIM:613584 ALDH1L2 skos:exactMatch ncbigene:160428 semapv:UnspecifiedMatching -OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:30414 semapv:UnspecifiedMatching -OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:TMEM147 semapv:UnspecifiedMatching -OMIM:613585 TMEM147 skos:exactMatch ncbigene:10430 semapv:UnspecifiedMatching -OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:29540 semapv:UnspecifiedMatching -OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:NOB1 semapv:UnspecifiedMatching -OMIM:613586 NOB1 skos:exactMatch ncbigene:28987 semapv:UnspecifiedMatching -OMIM:613587 occult macular dystrophy skos:exactMatch Orphanet:247834 semapv:UnspecifiedMatching -OMIM:613587 occult macular dystrophy skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching -OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:2052 semapv:UnspecifiedMatching -OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:CLEC3A semapv:UnspecifiedMatching -OMIM:613588 CLEC3A skos:exactMatch ncbigene:10143 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch UMLS:C1412843 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:1136 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:BTN2A1 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch ncbigene:11120 semapv:UnspecifiedMatching -OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:1137 semapv:UnspecifiedMatching -OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:BTN2A2 semapv:UnspecifiedMatching -OMIM:613591 BTN2A2 skos:exactMatch ncbigene:10385 semapv:UnspecifiedMatching -OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:13229 semapv:UnspecifiedMatching -OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:BTN2A3P semapv:UnspecifiedMatching -OMIM:613592 BTN2A3 skos:exactMatch ncbigene:54718 semapv:UnspecifiedMatching -OMIM:613593 BTN3A1 skos:exactMatch UMLS:C1412845 semapv:UnspecifiedMatching -OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:1138 semapv:UnspecifiedMatching -OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:BTN3A1 semapv:UnspecifiedMatching -OMIM:613593 BTN3A1 skos:exactMatch ncbigene:11119 semapv:UnspecifiedMatching -OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:1139 semapv:UnspecifiedMatching -OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:BTN3A2 semapv:UnspecifiedMatching -OMIM:613594 BTN3A2 skos:exactMatch ncbigene:11118 semapv:UnspecifiedMatching -OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:1140 semapv:UnspecifiedMatching -OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:BTN3A3 semapv:UnspecifiedMatching -OMIM:613595 BTN3A3 skos:exactMatch ncbigene:10384 semapv:UnspecifiedMatching -OMIM:613596 FAM161A skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching -OMIM:613596 FAM161A skos:exactMatch UMLS:C2681489 semapv:UnspecifiedMatching -OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:25808 semapv:UnspecifiedMatching -OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:FAM161A semapv:UnspecifiedMatching -OMIM:613596 FAM161A skos:exactMatch ncbigene:84140 semapv:UnspecifiedMatching -OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:25155 semapv:UnspecifiedMatching -OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:HOGA1 semapv:UnspecifiedMatching -OMIM:613597 HOGA1 skos:exactMatch ncbigene:112817 semapv:UnspecifiedMatching -OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:26498 semapv:UnspecifiedMatching -OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:ZNF513 semapv:UnspecifiedMatching -OMIM:613598 ZNF513 skos:exactMatch ncbigene:130557 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch UMLS:C1825822 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:15868 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:ABHD12 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch ncbigene:26090 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C1428820 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C4017319 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C4694035 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:29250 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:WDR35 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch ncbigene:57539 semapv:UnspecifiedMatching -OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome skos:exactMatch UMLS:C3150857 semapv:UnspecifiedMatching -OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:28093 semapv:UnspecifiedMatching -OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:BBIP1 semapv:UnspecifiedMatching -OMIM:613605 BBIP1 skos:exactMatch ncbigene:92482 semapv:UnspecifiedMatching -OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:21569 semapv:UnspecifiedMatching -OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:THEMIS semapv:UnspecifiedMatching -OMIM:613607 THEMIS skos:exactMatch ncbigene:387357 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C1384665 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C2673517 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C2673518 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C2673520 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C3280096 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C3469186 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C4017321 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch UMLS:C4017322 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch hgnc.symbol:4886 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch hgnc.symbol:HFE semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch ncbigene:3077 semapv:UnspecifiedMatching -OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching -OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching -OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch Orphanet:263487 semapv:UnspecifiedMatching -OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching -OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:33669 semapv:UnspecifiedMatching -OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:MIR208B semapv:UnspecifiedMatching -OMIM:613613 MIR208B skos:exactMatch ncbigene:100126336 semapv:UnspecifiedMatching -OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:32133 semapv:UnspecifiedMatching -OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:MIR499A semapv:UnspecifiedMatching -OMIM:613614 MIR499 skos:exactMatch ncbigene:574501 semapv:UnspecifiedMatching -OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching -OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching -OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch UMLS:C3150878 semapv:UnspecifiedMatching -OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:19869 semapv:UnspecifiedMatching -OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:SCARF2 semapv:UnspecifiedMatching -OMIM:613619 SCARF2 skos:exactMatch ncbigene:91179 semapv:UnspecifiedMatching -OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:24510 semapv:UnspecifiedMatching -OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:TBC1D10B semapv:UnspecifiedMatching -OMIM:613620 TBC1D10B skos:exactMatch ncbigene:26000 semapv:UnspecifiedMatching -OMIM:613621 NUBPL skos:exactMatch UMLS:C1538495 semapv:UnspecifiedMatching -OMIM:613621 NUBPL skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching -OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:20278 semapv:UnspecifiedMatching -OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:NUBPL semapv:UnspecifiedMatching -OMIM:613621 NUBPL skos:exactMatch ncbigene:80224 semapv:UnspecifiedMatching -OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:26927 semapv:UnspecifiedMatching -OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:FOXRED1 semapv:UnspecifiedMatching -OMIM:613622 FOXRED1 skos:exactMatch ncbigene:55572 semapv:UnspecifiedMatching -OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:28986 semapv:UnspecifiedMatching -OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:ZNF592 semapv:UnspecifiedMatching -OMIM:613624 ZNF592 skos:exactMatch ncbigene:9640 semapv:UnspecifiedMatching -OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:26270 semapv:UnspecifiedMatching -OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:PIEZO2 semapv:UnspecifiedMatching -OMIM:613629 PIEZO2 skos:exactMatch ncbigene:63895 semapv:UnspecifiedMatching -OMIM:613630 fetal encasement syndrome skos:exactMatch Orphanet:465824 semapv:UnspecifiedMatching -OMIM:613630 fetal encasement syndrome skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching -OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:23414 semapv:UnspecifiedMatching -OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:WASHC2C semapv:UnspecifiedMatching -OMIM:613631 WASHC2C skos:exactMatch ncbigene:253725 semapv:UnspecifiedMatching -OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:24361 semapv:UnspecifiedMatching -OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:WASHC1 semapv:UnspecifiedMatching -OMIM:613632 WASHC1 skos:exactMatch ncbigene:100287171 semapv:UnspecifiedMatching -OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:29324 semapv:UnspecifiedMatching -OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:DENND1A semapv:UnspecifiedMatching -OMIM:613633 DENND1A skos:exactMatch ncbigene:57706 semapv:UnspecifiedMatching -OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:26225 semapv:UnspecifiedMatching -OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:DENND1C semapv:UnspecifiedMatching -OMIM:613634 DENND1C skos:exactMatch ncbigene:79958 semapv:UnspecifiedMatching -OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C1539340 semapv:UnspecifiedMatching -OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching -OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:24921 semapv:UnspecifiedMatching -OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:EIF2AK1 semapv:UnspecifiedMatching -OMIM:613635 EIF2AK1 skos:exactMatch ncbigene:27102 semapv:UnspecifiedMatching -OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:19893 semapv:UnspecifiedMatching -OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:ADGRD1 semapv:UnspecifiedMatching -OMIM:613639 ADGRD1 skos:exactMatch ncbigene:283383 semapv:UnspecifiedMatching -OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching -OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch UMLS:C3150898 semapv:UnspecifiedMatching -OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:20092 semapv:UnspecifiedMatching -OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:ATF7IP semapv:UnspecifiedMatching -OMIM:613644 ATF7IP skos:exactMatch ncbigene:55729 semapv:UnspecifiedMatching -OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:20397 semapv:UnspecifiedMatching -OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:ATF7IP2 semapv:UnspecifiedMatching -OMIM:613645 ATF7IP2 skos:exactMatch ncbigene:80063 semapv:UnspecifiedMatching -OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:14574 semapv:UnspecifiedMatching -OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:MEG8 semapv:UnspecifiedMatching -OMIM:613648 MEG8 skos:exactMatch ncbigene:79104 semapv:UnspecifiedMatching -OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:32777 semapv:UnspecifiedMatching -OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:SNORD112 semapv:UnspecifiedMatching -OMIM:613649 SNORD112 skos:exactMatch ncbigene:692215 semapv:UnspecifiedMatching -OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:32980 semapv:UnspecifiedMatching -OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:SNORD113-1 semapv:UnspecifiedMatching -OMIM:613650 SNORD113-1 skos:exactMatch ncbigene:767561 semapv:UnspecifiedMatching -OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:32989 semapv:UnspecifiedMatching -OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:SNORD114-1 semapv:UnspecifiedMatching -OMIM:613651 SNORD114-1 skos:exactMatch ncbigene:767577 semapv:UnspecifiedMatching -OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:22197 semapv:UnspecifiedMatching -OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:AP5Z1 semapv:UnspecifiedMatching -OMIM:613653 AP5Z1 skos:exactMatch ncbigene:9907 semapv:UnspecifiedMatching -OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:31873 semapv:UnspecifiedMatching -OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:MIR380 semapv:UnspecifiedMatching -OMIM:613654 MIR380 skos:exactMatch ncbigene:494329 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch UMLS:C1537435 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch UMLS:C4225479 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:19439 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:KCNK18 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch ncbigene:338567 semapv:UnspecifiedMatching -OMIM:613656 migraine with aura, susceptibility to, 13 skos:exactMatch UMLS:C3150908 semapv:UnspecifiedMatching -OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching -OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C3150910 semapv:UnspecifiedMatching -OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching -OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch Orphanet:280071 semapv:UnspecifiedMatching -OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching -OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:25543 semapv:UnspecifiedMatching -OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:SHQ1 semapv:UnspecifiedMatching -OMIM:613663 SHQ1 skos:exactMatch ncbigene:55164 semapv:UnspecifiedMatching -OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:32394 semapv:UnspecifiedMatching -OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:SMTNL1 semapv:UnspecifiedMatching -OMIM:613664 SMTNL1 skos:exactMatch ncbigene:219537 semapv:UnspecifiedMatching -OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:4035 semapv:UnspecifiedMatching -OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:ACKR1 semapv:UnspecifiedMatching -OMIM:613665 ACKR1 skos:exactMatch ncbigene:2532 semapv:UnspecifiedMatching -OMIM:613666 ALG11 skos:exactMatch UMLS:C1876205 semapv:UnspecifiedMatching -OMIM:613666 ALG11 skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching -OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:32456 semapv:UnspecifiedMatching -OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:ALG11 semapv:UnspecifiedMatching -OMIM:613666 ALG11 skos:exactMatch ncbigene:440138 semapv:UnspecifiedMatching -OMIM:613667 SOBP skos:exactMatch hgnc.symbol:29256 semapv:UnspecifiedMatching -OMIM:613667 SOBP skos:exactMatch hgnc.symbol:SOBP semapv:UnspecifiedMatching -OMIM:613667 SOBP skos:exactMatch ncbigene:55084 semapv:UnspecifiedMatching -OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:25532 semapv:UnspecifiedMatching -OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:MTPAP semapv:UnspecifiedMatching -OMIM:613669 MTPAP skos:exactMatch ncbigene:55149 semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:97685 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch UMLS:C3150928 semapv:UnspecifiedMatching -OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch Orphanet:363444 semapv:UnspecifiedMatching -OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching -OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:31515 semapv:UnspecifiedMatching -OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:MIR130B semapv:UnspecifiedMatching -OMIM:613682 MIR130B skos:exactMatch ncbigene:406920 semapv:UnspecifiedMatching -OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:30657 semapv:UnspecifiedMatching -OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:SLC50A1 semapv:UnspecifiedMatching -OMIM:613683 SLC50A1 skos:exactMatch ncbigene:55974 semapv:UnspecifiedMatching -OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:26074 semapv:UnspecifiedMatching -OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:PARPBP semapv:UnspecifiedMatching -OMIM:613687 PARPBP skos:exactMatch ncbigene:55010 semapv:UnspecifiedMatching -OMIM:613689 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching -OMIM:613689 mammary-digital-nail syndrome skos:exactMatch UMLS:C3150946 semapv:UnspecifiedMatching -OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch UMLS:C1860752 semapv:UnspecifiedMatching -OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:29113 semapv:UnspecifiedMatching -OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:GRAMD4 semapv:UnspecifiedMatching -OMIM:613691 GRAMD4 skos:exactMatch ncbigene:23151 semapv:UnspecifiedMatching -OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:28981 semapv:UnspecifiedMatching -OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:TUT4 semapv:UnspecifiedMatching -OMIM:613692 TUT4 skos:exactMatch ncbigene:23318 semapv:UnspecifiedMatching -OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:14533 semapv:UnspecifiedMatching -OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:UBTFL1 semapv:UnspecifiedMatching -OMIM:613696 UBTFL1 skos:exactMatch ncbigene:642623 semapv:UnspecifiedMatching -OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:1421 semapv:UnspecifiedMatching -OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:SLC25A20 semapv:UnspecifiedMatching -OMIM:613698 SLC25A20 skos:exactMatch ncbigene:788 semapv:UnspecifiedMatching -OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:23671 semapv:UnspecifiedMatching -OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:GLT6D1 semapv:UnspecifiedMatching -OMIM:613699 GLT6D1 skos:exactMatch ncbigene:360203 semapv:UnspecifiedMatching -OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:31770 semapv:UnspecifiedMatching -OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:MIR328 semapv:UnspecifiedMatching -OMIM:613701 MIR328 skos:exactMatch ncbigene:442901 semapv:UnspecifiedMatching -OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:6583 semapv:UnspecifiedMatching -OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:EIF2D semapv:UnspecifiedMatching -OMIM:613709 EIF2D skos:exactMatch ncbigene:1939 semapv:UnspecifiedMatching -OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:25653 semapv:UnspecifiedMatching -OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:PCID2 semapv:UnspecifiedMatching -OMIM:613713 PCID2 skos:exactMatch ncbigene:55795 semapv:UnspecifiedMatching -OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:42400 semapv:UnspecifiedMatching -OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:NCR3LG1 semapv:UnspecifiedMatching -OMIM:613714 NCR3LG1 skos:exactMatch ncbigene:374383 semapv:UnspecifiedMatching -OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:20422 semapv:UnspecifiedMatching -OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:POLR1D semapv:UnspecifiedMatching -OMIM:613715 POLR1D skos:exactMatch ncbigene:51082 semapv:UnspecifiedMatching -OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:32917 semapv:UnspecifiedMatching -OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:MIR661 semapv:UnspecifiedMatching -OMIM:613716 MIR661 skos:exactMatch ncbigene:724031 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch UMLS:C1537982 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch UMLS:C2239351 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:27375 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:MSRB3 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch ncbigene:253827 semapv:UnspecifiedMatching -OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch Orphanet:439218 semapv:UnspecifiedMatching -OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching -OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching -OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching -OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching -OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:21065 semapv:UnspecifiedMatching -OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:SLC25A27 semapv:UnspecifiedMatching -OMIM:613725 SLC25A27 skos:exactMatch ncbigene:9481 semapv:UnspecifiedMatching -OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:25519 semapv:UnspecifiedMatching -OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:ANO10 semapv:UnspecifiedMatching -OMIM:613726 ANO10 skos:exactMatch ncbigene:55129 semapv:UnspecifiedMatching -OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:37227 semapv:UnspecifiedMatching -OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:KBTBD13 semapv:UnspecifiedMatching -OMIM:613727 KBTBD13 skos:exactMatch ncbigene:390594 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C0694884 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C2675664 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4017330 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4017331 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4017332 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4479701 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch UMLS:C4551961 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:7010 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:MEN1 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch ncbigene:4221 semapv:UnspecifiedMatching -OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:28178 semapv:UnspecifiedMatching -OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:CCDC115 semapv:UnspecifiedMatching -OMIM:613734 CCDC115 skos:exactMatch ncbigene:84317 semapv:UnspecifiedMatching -OMIM:613738 AGMO skos:exactMatch hgnc.symbol:33784 semapv:UnspecifiedMatching -OMIM:613738 AGMO skos:exactMatch hgnc.symbol:AGMO semapv:UnspecifiedMatching -OMIM:613738 AGMO skos:exactMatch ncbigene:392636 semapv:UnspecifiedMatching -OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:29560 semapv:UnspecifiedMatching -OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:THYN1 semapv:UnspecifiedMatching -OMIM:613739 THYN1 skos:exactMatch ncbigene:29087 semapv:UnspecifiedMatching -OMIM:613741 PYGL skos:exactMatch hgnc.symbol:9725 semapv:UnspecifiedMatching -OMIM:613741 PYGL skos:exactMatch hgnc.symbol:PYGL semapv:UnspecifiedMatching -OMIM:613741 PYGL skos:exactMatch ncbigene:5836 semapv:UnspecifiedMatching -OMIM:613742 G6PC skos:exactMatch hgnc.symbol:4056 semapv:UnspecifiedMatching -OMIM:613742 G6PC skos:exactMatch hgnc.symbol:G6PC1 semapv:UnspecifiedMatching -OMIM:613742 G6PC skos:exactMatch ncbigene:2538 semapv:UnspecifiedMatching -OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:24077 semapv:UnspecifiedMatching -OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:ANAPC10 semapv:UnspecifiedMatching -OMIM:613745 ANAPC10 skos:exactMatch ncbigene:10393 semapv:UnspecifiedMatching -OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:22170 semapv:UnspecifiedMatching -OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:BCAR4 semapv:UnspecifiedMatching -OMIM:613746 BCAR4 skos:exactMatch ncbigene:400500 semapv:UnspecifiedMatching -OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:19916 semapv:UnspecifiedMatching -OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:KIF24 semapv:UnspecifiedMatching -OMIM:613747 KIF24 skos:exactMatch ncbigene:347240 semapv:UnspecifiedMatching -OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:21906 semapv:UnspecifiedMatching -OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:CHCHD3 semapv:UnspecifiedMatching -OMIM:613748 CHCHD3 skos:exactMatch ncbigene:54927 semapv:UnspecifiedMatching -OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:13499 semapv:UnspecifiedMatching -OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:ZNF260 semapv:UnspecifiedMatching -OMIM:613749 ZNF260 skos:exactMatch ncbigene:339324 semapv:UnspecifiedMatching -OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching -OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch UMLS:C3151057 semapv:UnspecifiedMatching -OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:31588 semapv:UnspecifiedMatching -OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:MIR211 semapv:UnspecifiedMatching -OMIM:613753 MIR211 skos:exactMatch ncbigene:406993 semapv:UnspecifiedMatching -OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:27146 semapv:UnspecifiedMatching -OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:RNF187 semapv:UnspecifiedMatching -OMIM:613754 RNF187 skos:exactMatch ncbigene:149603 semapv:UnspecifiedMatching -OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:31769 semapv:UnspecifiedMatching -OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:MIR326 semapv:UnspecifiedMatching -OMIM:613755 MIR326 skos:exactMatch ncbigene:442900 semapv:UnspecifiedMatching -OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:19660 semapv:UnspecifiedMatching -OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:SLC36A4 semapv:UnspecifiedMatching -OMIM:613760 SLC36A4 skos:exactMatch ncbigene:120103 semapv:UnspecifiedMatching -OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:30385 semapv:UnspecifiedMatching -OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:SCAMP4 semapv:UnspecifiedMatching -OMIM:613764 SCAMP4 skos:exactMatch ncbigene:113178 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch UMLS:C1428974 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:30386 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:SCAMP5 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch ncbigene:192683 semapv:UnspecifiedMatching -OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:14539 semapv:UnspecifiedMatching -OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:RNF213 semapv:UnspecifiedMatching -OMIM:613768 RNF213 skos:exactMatch ncbigene:57674 semapv:UnspecifiedMatching -OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:14616 semapv:UnspecifiedMatching -OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:PLAC4 semapv:UnspecifiedMatching -OMIM:613770 PLAC4 skos:exactMatch ncbigene:191585 semapv:UnspecifiedMatching -OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:29631 semapv:UnspecifiedMatching -OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:TMEM205 semapv:UnspecifiedMatching -OMIM:613771 TMEM205 skos:exactMatch ncbigene:374882 semapv:UnspecifiedMatching -OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:29266 semapv:UnspecifiedMatching -OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:KLHL14 semapv:UnspecifiedMatching -OMIM:613772 KLHL14 skos:exactMatch ncbigene:57565 semapv:UnspecifiedMatching -OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:32326 semapv:UnspecifiedMatching -OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:IGSF9B semapv:UnspecifiedMatching -OMIM:613773 IGSF9B skos:exactMatch ncbigene:22997 semapv:UnspecifiedMatching -OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:19946 semapv:UnspecifiedMatching -OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:CAMSAP1 semapv:UnspecifiedMatching -OMIM:613774 CAMSAP1 skos:exactMatch ncbigene:157922 semapv:UnspecifiedMatching -OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:29188 semapv:UnspecifiedMatching -OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:CAMSAP2 semapv:UnspecifiedMatching -OMIM:613775 CAMSAP2 skos:exactMatch ncbigene:23271 semapv:UnspecifiedMatching -OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:26264 semapv:UnspecifiedMatching -OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:FOXRED2 semapv:UnspecifiedMatching -OMIM:613777 FOXRED2 skos:exactMatch ncbigene:80020 semapv:UnspecifiedMatching -OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch Orphanet:91387 semapv:UnspecifiedMatching -OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching -OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:28924 semapv:UnspecifiedMatching -OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:CCDC125 semapv:UnspecifiedMatching -OMIM:613781 CCDC125 skos:exactMatch ncbigene:202243 semapv:UnspecifiedMatching -OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:17061 semapv:UnspecifiedMatching -OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:MSRB2 semapv:UnspecifiedMatching -OMIM:613782 MSRB2 skos:exactMatch ncbigene:22921 semapv:UnspecifiedMatching -OMIM:613785 C1R skos:exactMatch hgnc.symbol:1246 semapv:UnspecifiedMatching -OMIM:613785 C1R skos:exactMatch hgnc.symbol:C1R semapv:UnspecifiedMatching -OMIM:613785 C1R skos:exactMatch ncbigene:715 semapv:UnspecifiedMatching -OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:31535 semapv:UnspecifiedMatching -OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:MIR148A semapv:UnspecifiedMatching -OMIM:613786 MIR148A skos:exactMatch ncbigene:406940 semapv:UnspecifiedMatching -OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:31761 semapv:UnspecifiedMatching -OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:MIR148B semapv:UnspecifiedMatching -OMIM:613787 MIR148B skos:exactMatch ncbigene:442892 semapv:UnspecifiedMatching -OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:31538 semapv:UnspecifiedMatching -OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:MIR152 semapv:UnspecifiedMatching -OMIM:613788 MIR152 skos:exactMatch ncbigene:406943 semapv:UnspecifiedMatching -OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:30405 semapv:UnspecifiedMatching -OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:PRSS33 semapv:UnspecifiedMatching -OMIM:613797 PRSS33 skos:exactMatch ncbigene:260429 semapv:UnspecifiedMatching -OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:25244 semapv:UnspecifiedMatching -OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:CCDC39 semapv:UnspecifiedMatching -OMIM:613798 CCDC39 skos:exactMatch ncbigene:339829 semapv:UnspecifiedMatching -OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:26090 semapv:UnspecifiedMatching -OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:CCDC40 semapv:UnspecifiedMatching -OMIM:613799 CCDC40 skos:exactMatch ncbigene:55036 semapv:UnspecifiedMatching -OMIM:613802 MLEC skos:exactMatch hgnc.symbol:28973 semapv:UnspecifiedMatching -OMIM:613802 MLEC skos:exactMatch hgnc.symbol:MLEC semapv:UnspecifiedMatching -OMIM:613802 MLEC skos:exactMatch ncbigene:9761 semapv:UnspecifiedMatching -OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:29917 semapv:UnspecifiedMatching -OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:MDM1 semapv:UnspecifiedMatching -OMIM:613813 MDM1 skos:exactMatch ncbigene:56890 semapv:UnspecifiedMatching -OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:26006 semapv:UnspecifiedMatching -OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:TTC19 semapv:UnspecifiedMatching -OMIM:613814 TTC19 skos:exactMatch ncbigene:54902 semapv:UnspecifiedMatching -OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:2600 semapv:UnspecifiedMatching -OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:CYP21A2 semapv:UnspecifiedMatching -OMIM:613815 CYP21A2 skos:exactMatch ncbigene:1589 semapv:UnspecifiedMatching -OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:20344 semapv:UnspecifiedMatching -OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:UBR7 semapv:UnspecifiedMatching -OMIM:613816 UBR7 skos:exactMatch ncbigene:55148 semapv:UnspecifiedMatching -OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:24574 semapv:UnspecifiedMatching -OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:SPATS2L semapv:UnspecifiedMatching -OMIM:613817 SPATS2L skos:exactMatch ncbigene:26010 semapv:UnspecifiedMatching -OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:9318 semapv:UnspecifiedMatching -OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:PPP3R2 semapv:UnspecifiedMatching -OMIM:613821 PPP3R2 skos:exactMatch ncbigene:5535 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch UMLS:C1425429 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:18296 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:PPP4R2 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch ncbigene:151987 semapv:UnspecifiedMatching -OMIM:613823 seckel syndrome 5 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching -OMIM:613823 seckel syndrome 5 skos:exactMatch UMLS:C3151187 semapv:UnspecifiedMatching -OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:30467 semapv:UnspecifiedMatching -OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:UBR3 semapv:UnspecifiedMatching -OMIM:613831 UBR3 skos:exactMatch ncbigene:130507 semapv:UnspecifiedMatching -OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:26310 semapv:UnspecifiedMatching -OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:KANSL1L semapv:UnspecifiedMatching -OMIM:613833 KANSL1L skos:exactMatch ncbigene:151050 semapv:UnspecifiedMatching -OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching -OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching -OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:13505 semapv:UnspecifiedMatching -OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:ZNF304 semapv:UnspecifiedMatching -OMIM:613840 ZNF304 skos:exactMatch ncbigene:57343 semapv:UnspecifiedMatching -OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:21931 semapv:UnspecifiedMatching -OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:UBN2 semapv:UnspecifiedMatching -OMIM:613841 UBN2 skos:exactMatch ncbigene:254048 semapv:UnspecifiedMatching -OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:15808 semapv:UnspecifiedMatching -OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:GZF1 semapv:UnspecifiedMatching -OMIM:613842 GZF1 skos:exactMatch ncbigene:64412 semapv:UnspecifiedMatching -OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:12590 semapv:UnspecifiedMatching -OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:UQCRH semapv:UnspecifiedMatching -OMIM:613844 UQCRH skos:exactMatch ncbigene:7388 semapv:UnspecifiedMatching -OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch Orphanet:363694 semapv:UnspecifiedMatching -OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching -OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:25774 semapv:UnspecifiedMatching -OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:TCTN2 semapv:UnspecifiedMatching -OMIM:613846 TCTN2 skos:exactMatch ncbigene:79867 semapv:UnspecifiedMatching -OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:24519 semapv:UnspecifiedMatching -OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:TCTN3 semapv:UnspecifiedMatching -OMIM:613847 TCTN3 skos:exactMatch ncbigene:26123 semapv:UnspecifiedMatching -OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:18319 semapv:UnspecifiedMatching -OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:PRIMA1 semapv:UnspecifiedMatching -OMIM:613851 PRIMA1 skos:exactMatch ncbigene:145270 semapv:UnspecifiedMatching -OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch Orphanet:860 semapv:UnspecifiedMatching -OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching -OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:39433 semapv:UnspecifiedMatching -OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:PRSS56 semapv:UnspecifiedMatching -OMIM:613858 PRSS56 skos:exactMatch ncbigene:646960 semapv:UnspecifiedMatching -OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:12560 semapv:UnspecifiedMatching -OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:UMODL1 semapv:UnspecifiedMatching -OMIM:613859 UMODL1 skos:exactMatch ncbigene:89766 semapv:UnspecifiedMatching -OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:13507 semapv:UnspecifiedMatching -OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:ZNF317 semapv:UnspecifiedMatching -OMIM:613864 ZNF317 skos:exactMatch ncbigene:57693 semapv:UnspecifiedMatching -OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:17824 semapv:UnspecifiedMatching -OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:PLAAT2 semapv:UnspecifiedMatching -OMIM:613866 PLAAT2 skos:exactMatch ncbigene:54979 semapv:UnspecifiedMatching -OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:17825 semapv:UnspecifiedMatching -OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:PLAAT3 semapv:UnspecifiedMatching -OMIM:613867 PLAAT3 skos:exactMatch ncbigene:11145 semapv:UnspecifiedMatching -OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:10918 semapv:UnspecifiedMatching -OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:SLC14A1 semapv:UnspecifiedMatching -OMIM:613868 SLC14A1 skos:exactMatch ncbigene:6563 semapv:UnspecifiedMatching -OMIM:613871 FAH skos:exactMatch hgnc.symbol:3579 semapv:UnspecifiedMatching -OMIM:613871 FAH skos:exactMatch hgnc.symbol:FAH semapv:UnspecifiedMatching -OMIM:613871 FAH skos:exactMatch ncbigene:2184 semapv:UnspecifiedMatching -OMIM:613872 F10 skos:exactMatch hgnc.symbol:3528 semapv:UnspecifiedMatching -OMIM:613872 F10 skos:exactMatch hgnc.symbol:F10 semapv:UnspecifiedMatching -OMIM:613872 F10 skos:exactMatch ncbigene:2159 semapv:UnspecifiedMatching -OMIM:613878 F7 skos:exactMatch hgnc.symbol:3544 semapv:UnspecifiedMatching -OMIM:613878 F7 skos:exactMatch hgnc.symbol:F7 semapv:UnspecifiedMatching -OMIM:613878 F7 skos:exactMatch ncbigene:2155 semapv:UnspecifiedMatching -OMIM:613879 TRH skos:exactMatch hgnc.symbol:12298 semapv:UnspecifiedMatching -OMIM:613879 TRH skos:exactMatch hgnc.symbol:TRH semapv:UnspecifiedMatching -OMIM:613879 TRH skos:exactMatch ncbigene:7200 semapv:UnspecifiedMatching -OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:29153 semapv:UnspecifiedMatching -OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:BAHD1 semapv:UnspecifiedMatching -OMIM:613880 BAHD1 skos:exactMatch ncbigene:22893 semapv:UnspecifiedMatching -OMIM:613883 KEL skos:exactMatch hgnc.symbol:6308 semapv:UnspecifiedMatching -OMIM:613883 KEL skos:exactMatch hgnc.symbol:KEL semapv:UnspecifiedMatching -OMIM:613883 KEL skos:exactMatch ncbigene:3792 semapv:UnspecifiedMatching -OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:21168 semapv:UnspecifiedMatching -OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:RHOT1 semapv:UnspecifiedMatching -OMIM:613888 RHOT1 skos:exactMatch ncbigene:55288 semapv:UnspecifiedMatching -OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:21169 semapv:UnspecifiedMatching -OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:RHOT2 semapv:UnspecifiedMatching -OMIM:613889 RHOT2 skos:exactMatch ncbigene:89941 semapv:UnspecifiedMatching -OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:5218 semapv:UnspecifiedMatching -OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:HSD3B2 semapv:UnspecifiedMatching -OMIM:613890 HSD3B2 skos:exactMatch ncbigene:3284 semapv:UnspecifiedMatching -OMIM:613891 UMPS skos:exactMatch hgnc.symbol:12563 semapv:UnspecifiedMatching -OMIM:613891 UMPS skos:exactMatch hgnc.symbol:UMPS semapv:UnspecifiedMatching -OMIM:613891 UMPS skos:exactMatch ncbigene:7372 semapv:UnspecifiedMatching -OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:22205 semapv:UnspecifiedMatching -OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:DPY19L1 semapv:UnspecifiedMatching -OMIM:613892 DPY19L1 skos:exactMatch ncbigene:23333 semapv:UnspecifiedMatching -OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:19414 semapv:UnspecifiedMatching -OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:DPY19L2 semapv:UnspecifiedMatching -OMIM:613893 DPY19L2 skos:exactMatch ncbigene:283417 semapv:UnspecifiedMatching -OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:27120 semapv:UnspecifiedMatching -OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:DPY19L3 semapv:UnspecifiedMatching -OMIM:613894 DPY19L3 skos:exactMatch ncbigene:147991 semapv:UnspecifiedMatching -OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:27829 semapv:UnspecifiedMatching -OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:DPY19L4 semapv:UnspecifiedMatching -OMIM:613895 DPY19L4 skos:exactMatch ncbigene:286148 semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch UMLS:C1412816 semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch hgnc.symbol:1093 semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch hgnc.symbol:BPGM semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch ncbigene:669 semapv:UnspecifiedMatching -OMIM:613897 FANCF skos:exactMatch hgnc.symbol:3587 semapv:UnspecifiedMatching -OMIM:613897 FANCF skos:exactMatch hgnc.symbol:FANCF semapv:UnspecifiedMatching -OMIM:613897 FANCF skos:exactMatch ncbigene:2188 semapv:UnspecifiedMatching -OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:5005 semapv:UnspecifiedMatching -OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:HMGCL semapv:UnspecifiedMatching -OMIM:613898 HMGCL skos:exactMatch ncbigene:3155 semapv:UnspecifiedMatching -OMIM:613899 FANCC skos:exactMatch hgnc.symbol:3584 semapv:UnspecifiedMatching -OMIM:613899 FANCC skos:exactMatch hgnc.symbol:FANCC semapv:UnspecifiedMatching -OMIM:613899 FANCC skos:exactMatch ncbigene:2176 semapv:UnspecifiedMatching -OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:16255 semapv:UnspecifiedMatching -OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:TGM6 semapv:UnspecifiedMatching -OMIM:613900 TGM6 skos:exactMatch ncbigene:343641 semapv:UnspecifiedMatching -OMIM:613901 RTCB skos:exactMatch hgnc.symbol:26935 semapv:UnspecifiedMatching -OMIM:613901 RTCB skos:exactMatch hgnc.symbol:RTCB semapv:UnspecifiedMatching -OMIM:613901 RTCB skos:exactMatch ncbigene:51493 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch UMLS:C1428140 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:23589 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:ZNF503 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch ncbigene:84858 semapv:UnspecifiedMatching -OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:25331 semapv:UnspecifiedMatching -OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:ZNF540 semapv:UnspecifiedMatching -OMIM:613903 ZNF540 skos:exactMatch ncbigene:163255 semapv:UnspecifiedMatching -OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:24737 semapv:UnspecifiedMatching -OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:ZNF569 semapv:UnspecifiedMatching -OMIM:613904 ZNF569 skos:exactMatch ncbigene:148266 semapv:UnspecifiedMatching -OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:25879 semapv:UnspecifiedMatching -OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:ZNF606 semapv:UnspecifiedMatching -OMIM:613905 ZNF606 skos:exactMatch ncbigene:80095 semapv:UnspecifiedMatching -OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:31834 semapv:UnspecifiedMatching -OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:ZNF641 semapv:UnspecifiedMatching -OMIM:613906 ZNF641 skos:exactMatch ncbigene:121274 semapv:UnspecifiedMatching -OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:29147 semapv:UnspecifiedMatching -OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:ZNF652 semapv:UnspecifiedMatching -OMIM:613907 ZNF652 skos:exactMatch ncbigene:22834 semapv:UnspecifiedMatching -OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:23305 semapv:UnspecifiedMatching -OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:ZNF480 semapv:UnspecifiedMatching -OMIM:613910 ZNF480 skos:exactMatch ncbigene:147657 semapv:UnspecifiedMatching -OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:23713 semapv:UnspecifiedMatching -OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:ZNF496 semapv:UnspecifiedMatching -OMIM:613911 ZNF496 skos:exactMatch ncbigene:84838 semapv:UnspecifiedMatching -OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:21948 semapv:UnspecifiedMatching -OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:ZNF746 semapv:UnspecifiedMatching -OMIM:613914 ZNF746 skos:exactMatch ncbigene:155061 semapv:UnspecifiedMatching -OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:32550 semapv:UnspecifiedMatching -OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:ZBTB42 semapv:UnspecifiedMatching -OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch ncbigene:100128927 semapv:UnspecifiedMatching -OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:39755 semapv:UnspecifiedMatching -OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:MUC22 semapv:UnspecifiedMatching -OMIM:613917 MUC22 skos:exactMatch ncbigene:100507679 semapv:UnspecifiedMatching -OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:27780 semapv:UnspecifiedMatching -OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:HCG22 semapv:UnspecifiedMatching -OMIM:613918 HCG22 skos:exactMatch ncbigene:285834 semapv:UnspecifiedMatching -OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:21202 semapv:UnspecifiedMatching -OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:KIF6 semapv:UnspecifiedMatching -OMIM:613919 KIF6 skos:exactMatch ncbigene:221458 semapv:UnspecifiedMatching -OMIM:613920 COA5 skos:exactMatch UMLS:C2240258 semapv:UnspecifiedMatching -OMIM:613920 COA5 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching -OMIM:613920 COA5 skos:exactMatch hgnc.symbol:33848 semapv:UnspecifiedMatching -OMIM:613920 COA5 skos:exactMatch hgnc.symbol:COA5 semapv:UnspecifiedMatching -OMIM:613920 COA5 skos:exactMatch ncbigene:493753 semapv:UnspecifiedMatching -OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:21773 semapv:UnspecifiedMatching -OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:LIPJ semapv:UnspecifiedMatching -OMIM:613921 LIPJ skos:exactMatch ncbigene:142910 semapv:UnspecifiedMatching -OMIM:613922 LIPK skos:exactMatch hgnc.symbol:23444 semapv:UnspecifiedMatching -OMIM:613922 LIPK skos:exactMatch hgnc.symbol:LIPK semapv:UnspecifiedMatching -OMIM:613922 LIPK skos:exactMatch ncbigene:643414 semapv:UnspecifiedMatching -OMIM:613923 LIPM skos:exactMatch hgnc.symbol:23455 semapv:UnspecifiedMatching -OMIM:613923 LIPM skos:exactMatch hgnc.symbol:LIPM semapv:UnspecifiedMatching -OMIM:613923 LIPM skos:exactMatch ncbigene:340654 semapv:UnspecifiedMatching -OMIM:613924 LIPN skos:exactMatch hgnc.symbol:23452 semapv:UnspecifiedMatching -OMIM:613924 LIPN skos:exactMatch hgnc.symbol:LIPN semapv:UnspecifiedMatching -OMIM:613924 LIPN skos:exactMatch ncbigene:643418 semapv:UnspecifiedMatching -OMIM:613927 C2 skos:exactMatch hgnc.symbol:1248 semapv:UnspecifiedMatching -OMIM:613927 C2 skos:exactMatch hgnc.symbol:C2 semapv:UnspecifiedMatching -OMIM:613927 C2 skos:exactMatch ncbigene:717 semapv:UnspecifiedMatching -OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:21666 semapv:UnspecifiedMatching -OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:MUCL3 semapv:UnspecifiedMatching -OMIM:613928 MUCL3 skos:exactMatch ncbigene:135656 semapv:UnspecifiedMatching -OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:16646 semapv:UnspecifiedMatching -OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:SPINK4 semapv:UnspecifiedMatching -OMIM:613929 SPINK4 skos:exactMatch ncbigene:27290 semapv:UnspecifiedMatching -OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:15954 semapv:UnspecifiedMatching -OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:TOE1 semapv:UnspecifiedMatching -OMIM:613931 TOE1 skos:exactMatch ncbigene:114034 semapv:UnspecifiedMatching -OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:19661 semapv:UnspecifiedMatching -OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:TNNI3K semapv:UnspecifiedMatching -OMIM:613932 TNNI3K skos:exactMatch ncbigene:51086 semapv:UnspecifiedMatching -OMIM:613934 TMEM25 skos:exactMatch UMLS:C1539994 semapv:UnspecifiedMatching -OMIM:613934 TMEM25 skos:exactMatch hgnc.symbol:25890 semapv:UnspecifiedMatching -OMIM:613934 TMEM25 skos:exactMatch hgnc.symbol:TMEM25 semapv:UnspecifiedMatching -OMIM:613934 TMEM25 skos:exactMatch ncbigene:84866 semapv:UnspecifiedMatching -OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:26409 semapv:UnspecifiedMatching -OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:TMEM74 semapv:UnspecifiedMatching -OMIM:613935 TMEM74 skos:exactMatch ncbigene:157753 semapv:UnspecifiedMatching -OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:26722 semapv:UnspecifiedMatching -OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:TMEM102 semapv:UnspecifiedMatching -OMIM:613936 TMEM102 skos:exactMatch ncbigene:284114 semapv:UnspecifiedMatching -OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:25587 semapv:UnspecifiedMatching -OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:TMEM184C semapv:UnspecifiedMatching -OMIM:613937 TMEM184C skos:exactMatch ncbigene:55751 semapv:UnspecifiedMatching -OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:26125 semapv:UnspecifiedMatching -OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:SPATA20 semapv:UnspecifiedMatching -OMIM:613939 SPATA20 skos:exactMatch ncbigene:64847 semapv:UnspecifiedMatching -OMIM:613940 AFG2A skos:exactMatch hgnc.symbol:AFG2A semapv:UnspecifiedMatching -OMIM:613940 AFG2A skos:exactMatch ncbigene:166378 semapv:UnspecifiedMatching -OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:11248 semapv:UnspecifiedMatching -OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:SPINT3 semapv:UnspecifiedMatching -OMIM:613941 SPINT3 skos:exactMatch ncbigene:10816 semapv:UnspecifiedMatching -OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:16252 semapv:UnspecifiedMatching -OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:SUN5 semapv:UnspecifiedMatching -OMIM:613942 SUN5 skos:exactMatch ncbigene:140732 semapv:UnspecifiedMatching -OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:24138 semapv:UnspecifiedMatching -OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:DNAJC5B semapv:UnspecifiedMatching -OMIM:613945 DNAJC5B skos:exactMatch ncbigene:85479 semapv:UnspecifiedMatching -OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:24844 semapv:UnspecifiedMatching -OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:DNAJC5G semapv:UnspecifiedMatching -OMIM:613946 DNAJC5G skos:exactMatch ncbigene:285126 semapv:UnspecifiedMatching -OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:18309 semapv:UnspecifiedMatching -OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:SPATA6 semapv:UnspecifiedMatching -OMIM:613947 SPATA6 skos:exactMatch ncbigene:54558 semapv:UnspecifiedMatching -OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:28676 semapv:UnspecifiedMatching -OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:SPATA8 semapv:UnspecifiedMatching -OMIM:613948 SPATA8 skos:exactMatch ncbigene:145946 semapv:UnspecifiedMatching -OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:24712 semapv:UnspecifiedMatching -OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:TENT5C semapv:UnspecifiedMatching -OMIM:613952 TENT5C skos:exactMatch ncbigene:54855 semapv:UnspecifiedMatching -OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching -OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching -OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching -OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching -OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:19108 semapv:UnspecifiedMatching -OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:TAS2R19 semapv:UnspecifiedMatching -OMIM:613961 TAS2R19 skos:exactMatch ncbigene:259294 semapv:UnspecifiedMatching -OMIM:613962 TAS2R20 skos:exactMatch hgnc.symbol:19109 semapv:UnspecifiedMatching -OMIM:613962 TAS2R20 skos:exactMatch hgnc.symbol:TAS2R20 semapv:UnspecifiedMatching -OMIM:613962 TAS2R20 skos:exactMatch ncbigene:259295 semapv:UnspecifiedMatching -OMIM:613963 TAS2R30 skos:exactMatch hgnc.symbol:19112 semapv:UnspecifiedMatching -OMIM:613963 TAS2R30 skos:exactMatch hgnc.symbol:TAS2R30 semapv:UnspecifiedMatching -OMIM:613963 TAS2R30 skos:exactMatch ncbigene:259293 semapv:UnspecifiedMatching -OMIM:613964 TAS2R40 skos:exactMatch hgnc.symbol:18885 semapv:UnspecifiedMatching -OMIM:613964 TAS2R40 skos:exactMatch hgnc.symbol:TAS2R40 semapv:UnspecifiedMatching -OMIM:613964 TAS2R40 skos:exactMatch ncbigene:259286 semapv:UnspecifiedMatching -OMIM:613965 TAS2R41 skos:exactMatch hgnc.symbol:18883 semapv:UnspecifiedMatching -OMIM:613965 TAS2R41 skos:exactMatch hgnc.symbol:TAS2R41 semapv:UnspecifiedMatching -OMIM:613965 TAS2R41 skos:exactMatch ncbigene:259287 semapv:UnspecifiedMatching -OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:18888 semapv:UnspecifiedMatching -OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:TAS2R42 semapv:UnspecifiedMatching -OMIM:613966 TAS2R42 skos:exactMatch ncbigene:353164 semapv:UnspecifiedMatching -OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:18876 semapv:UnspecifiedMatching -OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:TAS2R45 semapv:UnspecifiedMatching -OMIM:613967 TAS2R45 skos:exactMatch ncbigene:259291 semapv:UnspecifiedMatching -OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:20639 semapv:UnspecifiedMatching -OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:TAS2R60 semapv:UnspecifiedMatching -OMIM:613968 TAS2R60 skos:exactMatch ncbigene:338398 semapv:UnspecifiedMatching -OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching -OMIM:613973 CGAS skos:exactMatch UMLS:C3147783 semapv:UnspecifiedMatching -OMIM:613973 CGAS skos:exactMatch hgnc.symbol:21367 semapv:UnspecifiedMatching -OMIM:613973 CGAS skos:exactMatch hgnc.symbol:CGAS semapv:UnspecifiedMatching -OMIM:613973 CGAS skos:exactMatch ncbigene:115004 semapv:UnspecifiedMatching -OMIM:613974 DDX60 skos:exactMatch UMLS:C2239342 semapv:UnspecifiedMatching -OMIM:613974 DDX60 skos:exactMatch hgnc.symbol:25942 semapv:UnspecifiedMatching -OMIM:613974 DDX60 skos:exactMatch hgnc.symbol:DDX60 semapv:UnspecifiedMatching -OMIM:613974 DDX60 skos:exactMatch ncbigene:55601 semapv:UnspecifiedMatching -OMIM:613975 IFI44L skos:exactMatch hgnc.symbol:17817 semapv:UnspecifiedMatching -OMIM:613975 IFI44L skos:exactMatch hgnc.symbol:IFI44L semapv:UnspecifiedMatching -OMIM:613975 IFI44L skos:exactMatch ncbigene:10964 semapv:UnspecifiedMatching -OMIM:613976 FANCE skos:exactMatch hgnc.symbol:3586 semapv:UnspecifiedMatching -OMIM:613976 FANCE skos:exactMatch hgnc.symbol:FANCE semapv:UnspecifiedMatching -OMIM:613976 FANCE skos:exactMatch ncbigene:2178 semapv:UnspecifiedMatching -OMIM:613979 PRPF6 skos:exactMatch hgnc.symbol:15860 semapv:UnspecifiedMatching -OMIM:613979 PRPF6 skos:exactMatch hgnc.symbol:PRPF6 semapv:UnspecifiedMatching -OMIM:613979 PRPF6 skos:exactMatch ncbigene:24148 semapv:UnspecifiedMatching -OMIM:613981 hypotrichosis 3 skos:exactMatch Orphanet:90368 semapv:UnspecifiedMatching -OMIM:613981 hypotrichosis 3 skos:exactMatch UMLS:C3151432 semapv:UnspecifiedMatching -OMIM:613984 FANCD2 skos:exactMatch UMLS:C1414530 semapv:UnspecifiedMatching -OMIM:613984 FANCD2 skos:exactMatch UMLS:C3160738 semapv:UnspecifiedMatching -OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:3585 semapv:UnspecifiedMatching -OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:FANCD2 semapv:UnspecifiedMatching -OMIM:613984 FANCD2 skos:exactMatch ncbigene:2177 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231214 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:848 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch UMLS:C0005283 semapv:UnspecifiedMatching -OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:29829 semapv:UnspecifiedMatching -OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:CDC42BPG semapv:UnspecifiedMatching -OMIM:613991 CDC42BPG skos:exactMatch ncbigene:55561 semapv:UnspecifiedMatching -OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:23732 semapv:UnspecifiedMatching -OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:PPP2R2D semapv:UnspecifiedMatching -OMIM:613992 PPP2R2D skos:exactMatch ncbigene:55844 semapv:UnspecifiedMatching -OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:21719 semapv:UnspecifiedMatching -OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:MYL7 semapv:UnspecifiedMatching -OMIM:613993 MYL7 skos:exactMatch ncbigene:58498 semapv:UnspecifiedMatching -OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:26550 semapv:UnspecifiedMatching -OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:NBPF4 semapv:UnspecifiedMatching -OMIM:613994 NBPF4 skos:exactMatch ncbigene:148545 semapv:UnspecifiedMatching -OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:24491 semapv:UnspecifiedMatching -OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:NBPF5P semapv:UnspecifiedMatching -OMIM:613995 NBPF5 skos:exactMatch ncbigene:100507044 semapv:UnspecifiedMatching -OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:31988 semapv:UnspecifiedMatching -OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:NBPF6 semapv:UnspecifiedMatching -OMIM:613996 NBPF6 skos:exactMatch ncbigene:653149 semapv:UnspecifiedMatching -OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:31989 semapv:UnspecifiedMatching -OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:NBPF7P semapv:UnspecifiedMatching -OMIM:613997 NBPF7 skos:exactMatch ncbigene:343505 semapv:UnspecifiedMatching -OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:31990 semapv:UnspecifiedMatching -OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:NBPF8 semapv:UnspecifiedMatching -OMIM:613998 NBPF8 skos:exactMatch ncbigene:728841 semapv:UnspecifiedMatching -OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:31991 semapv:UnspecifiedMatching -OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:NBPF9 semapv:UnspecifiedMatching -OMIM:613999 NBPF9 skos:exactMatch ncbigene:400818 semapv:UnspecifiedMatching -OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:31992 semapv:UnspecifiedMatching -OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:NBPF10 semapv:UnspecifiedMatching -OMIM:614000 NBPF10 skos:exactMatch ncbigene:100132406 semapv:UnspecifiedMatching -OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:31993 semapv:UnspecifiedMatching -OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:NBPF11 semapv:UnspecifiedMatching -OMIM:614001 NBPF11 skos:exactMatch ncbigene:200030 semapv:UnspecifiedMatching -OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:25232 semapv:UnspecifiedMatching -OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:NBPF14 semapv:UnspecifiedMatching -OMIM:614003 NBPF14 skos:exactMatch ncbigene:25832 semapv:UnspecifiedMatching -OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:31999 semapv:UnspecifiedMatching -OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:NBPF19 semapv:UnspecifiedMatching -OMIM:614006 NBPF19 skos:exactMatch ncbigene:101060226 semapv:UnspecifiedMatching -OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:32000 semapv:UnspecifiedMatching -OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:NBPF20 semapv:UnspecifiedMatching -OMIM:614007 NBPF20 skos:exactMatch ncbigene:100288142 semapv:UnspecifiedMatching -OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:26019 semapv:UnspecifiedMatching -OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:BPNT2 semapv:UnspecifiedMatching -OMIM:614010 IMPAD1 skos:exactMatch ncbigene:54928 semapv:UnspecifiedMatching -OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:13756 semapv:UnspecifiedMatching -OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:ERVK-4 semapv:UnspecifiedMatching -OMIM:614011 ERVK-4 skos:exactMatch ncbigene:60359 semapv:UnspecifiedMatching -OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:13757 semapv:UnspecifiedMatching -OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:ERVK-5 semapv:UnspecifiedMatching -OMIM:614012 ERVK-5 skos:exactMatch ncbigene:60358 semapv:UnspecifiedMatching -OMIM:614013 ERVK-7 skos:exactMatch hgnc.symbol:31828 semapv:UnspecifiedMatching -OMIM:614013 ERVK-7 skos:exactMatch hgnc.symbol:ERVK-7 semapv:UnspecifiedMatching -OMIM:614013 ERVK-7 skos:exactMatch ncbigene:449619 semapv:UnspecifiedMatching -OMIM:614014 RNASE9 skos:exactMatch hgnc.symbol:20673 semapv:UnspecifiedMatching -OMIM:614014 RNASE9 skos:exactMatch hgnc.symbol:RNASE9 semapv:UnspecifiedMatching -OMIM:614014 RNASE9 skos:exactMatch ncbigene:390443 semapv:UnspecifiedMatching -OMIM:614015 DAGLA skos:exactMatch hgnc.symbol:1165 semapv:UnspecifiedMatching -OMIM:614015 DAGLA skos:exactMatch hgnc.symbol:DAGLA semapv:UnspecifiedMatching -OMIM:614015 DAGLA skos:exactMatch ncbigene:747 semapv:UnspecifiedMatching -OMIM:614016 DAGLB skos:exactMatch hgnc.symbol:28923 semapv:UnspecifiedMatching -OMIM:614016 DAGLB skos:exactMatch hgnc.symbol:DAGLB semapv:UnspecifiedMatching -OMIM:614016 DAGLB skos:exactMatch ncbigene:221955 semapv:UnspecifiedMatching -OMIM:614019 lissencephaly 4 skos:exactMatch Orphanet:1083 semapv:UnspecifiedMatching -OMIM:614019 lissencephaly 4 skos:exactMatch UMLS:C3151461 semapv:UnspecifiedMatching -OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching -OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching -OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch Orphanet:334 semapv:UnspecifiedMatching -OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching -OMIM:614026 KIF26B skos:exactMatch UMLS:C1825708 semapv:UnspecifiedMatching -OMIM:614026 KIF26B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614026 KIF26B skos:exactMatch hgnc.symbol:25484 semapv:UnspecifiedMatching -OMIM:614026 KIF26B skos:exactMatch hgnc.symbol:KIF26B semapv:UnspecifiedMatching -OMIM:614026 KIF26B skos:exactMatch ncbigene:55083 semapv:UnspecifiedMatching -OMIM:614027 INSM2 skos:exactMatch hgnc.symbol:17539 semapv:UnspecifiedMatching -OMIM:614027 INSM2 skos:exactMatch hgnc.symbol:INSM2 semapv:UnspecifiedMatching -OMIM:614027 INSM2 skos:exactMatch ncbigene:84684 semapv:UnspecifiedMatching -OMIM:614029 SPDYA skos:exactMatch hgnc.symbol:30613 semapv:UnspecifiedMatching -OMIM:614029 SPDYA skos:exactMatch hgnc.symbol:SPDYA semapv:UnspecifiedMatching -OMIM:614029 SPDYA skos:exactMatch ncbigene:245711 semapv:UnspecifiedMatching -OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:32681 semapv:UnspecifiedMatching -OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:SPDYC semapv:UnspecifiedMatching -OMIM:614030 SPDYC skos:exactMatch ncbigene:387778 semapv:UnspecifiedMatching -OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:29285 semapv:UnspecifiedMatching -OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:RANBP10 semapv:UnspecifiedMatching -OMIM:614031 RANBP10 skos:exactMatch ncbigene:57610 semapv:UnspecifiedMatching -OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:20161 semapv:UnspecifiedMatching -OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:TOX4 semapv:UnspecifiedMatching -OMIM:614032 TOX4 skos:exactMatch ncbigene:9878 semapv:UnspecifiedMatching -OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:23154 semapv:UnspecifiedMatching -OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:ZNF467 semapv:UnspecifiedMatching -OMIM:614040 ZNF467 skos:exactMatch ncbigene:168544 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C0035335 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C0694889 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C4017354 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch UMLS:C4017355 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch hgnc.symbol:9884 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch hgnc.symbol:RB1 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch ncbigene:5925 semapv:UnspecifiedMatching -OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:6703 semapv:UnspecifiedMatching -OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:LRRFIP2 semapv:UnspecifiedMatching -OMIM:614043 LRRFIP2 skos:exactMatch ncbigene:9209 semapv:UnspecifiedMatching -OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:25282 semapv:UnspecifiedMatching -OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:NIBAN2 semapv:UnspecifiedMatching -OMIM:614045 FAM129B skos:exactMatch ncbigene:64855 semapv:UnspecifiedMatching -OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:25482 semapv:UnspecifiedMatching -OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:ARGLU1 semapv:UnspecifiedMatching -OMIM:614046 ARGLU1 skos:exactMatch ncbigene:55082 semapv:UnspecifiedMatching -OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:31865 semapv:UnspecifiedMatching -OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:MTHFD2L semapv:UnspecifiedMatching -OMIM:614047 MTHFD2L skos:exactMatch ncbigene:441024 semapv:UnspecifiedMatching -OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:21945 semapv:UnspecifiedMatching -OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:ELAPOR2 semapv:UnspecifiedMatching -OMIM:614048 ELAPOR2 skos:exactMatch ncbigene:222223 semapv:UnspecifiedMatching -OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch Orphanet:1194 semapv:UnspecifiedMatching -OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching -OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching -OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching -OMIM:614054 RIMKLB skos:exactMatch UMLS:C1825155 semapv:UnspecifiedMatching -OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:29228 semapv:UnspecifiedMatching -OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:RIMKLB semapv:UnspecifiedMatching -OMIM:614054 RIMKLB skos:exactMatch ncbigene:57494 semapv:UnspecifiedMatching -OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:29089 semapv:UnspecifiedMatching -OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:PPP1R26 semapv:UnspecifiedMatching -OMIM:614056 PPP1R26 skos:exactMatch ncbigene:9858 semapv:UnspecifiedMatching -OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:32055 semapv:UnspecifiedMatching -OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:MIR409 semapv:UnspecifiedMatching -OMIM:614057 MIR409 skos:exactMatch ncbigene:574413 semapv:UnspecifiedMatching -OMIM:614058 KHK skos:exactMatch hgnc.symbol:6315 semapv:UnspecifiedMatching -OMIM:614058 KHK skos:exactMatch hgnc.symbol:KHK semapv:UnspecifiedMatching -OMIM:614058 KHK skos:exactMatch ncbigene:3795 semapv:UnspecifiedMatching -OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:31775 semapv:UnspecifiedMatching -OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:MIR338 semapv:UnspecifiedMatching -OMIM:614059 MIR338 skos:exactMatch ncbigene:442906 semapv:UnspecifiedMatching -OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:37461 semapv:UnspecifiedMatching -OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:HOTTIP semapv:UnspecifiedMatching -OMIM:614060 HOTTIP skos:exactMatch ncbigene:100316868 semapv:UnspecifiedMatching -OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:17190 semapv:UnspecifiedMatching -OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:OLFM4 semapv:UnspecifiedMatching -OMIM:614061 OLFM4 skos:exactMatch ncbigene:10562 semapv:UnspecifiedMatching -OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:1738 semapv:UnspecifiedMatching -OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:CDC42BPB semapv:UnspecifiedMatching -OMIM:614062 CDC42BPB skos:exactMatch ncbigene:9578 semapv:UnspecifiedMatching -OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:21143 semapv:UnspecifiedMatching -OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:ZBTB24 semapv:UnspecifiedMatching -OMIM:614064 ZBTB24 skos:exactMatch ncbigene:9841 semapv:UnspecifiedMatching -OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching -OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch UMLS:C3279738 semapv:UnspecifiedMatching -OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:29669 semapv:UnspecifiedMatching -OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:IFT43 semapv:UnspecifiedMatching -OMIM:614068 IFT43 skos:exactMatch ncbigene:112752 semapv:UnspecifiedMatching -OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:43444 semapv:UnspecifiedMatching -OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:MYZAP semapv:UnspecifiedMatching -OMIM:614071 MYZAP skos:exactMatch ncbigene:100820829 semapv:UnspecifiedMatching -OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching -OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching -OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching -OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching -OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching -OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching -OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching -OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching -OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching -OMIM:614084 WEE2 skos:exactMatch UMLS:C1538106 semapv:UnspecifiedMatching -OMIM:614084 WEE2 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching -OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:19684 semapv:UnspecifiedMatching -OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:WEE2 semapv:UnspecifiedMatching -OMIM:614084 WEE2 skos:exactMatch ncbigene:494551 semapv:UnspecifiedMatching -OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:28206 semapv:UnspecifiedMatching -OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:RHNO1 semapv:UnspecifiedMatching -OMIM:614085 RHNO1 skos:exactMatch ncbigene:83695 semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch UMLS:C3463911 semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch UMLS:C5231464 semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:40050 semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:MCIDAS semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch ncbigene:345643 semapv:UnspecifiedMatching -OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:5347 semapv:UnspecifiedMatching -OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:ICAM4 semapv:UnspecifiedMatching -OMIM:614088 ICAM4 skos:exactMatch ncbigene:3386 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C3279792 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching -OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:26814 semapv:UnspecifiedMatching -OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:RILPL1 semapv:UnspecifiedMatching -OMIM:614092 RILPL1 skos:exactMatch ncbigene:353116 semapv:UnspecifiedMatching -OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:28787 semapv:UnspecifiedMatching -OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:RILPL2 semapv:UnspecifiedMatching -OMIM:614093 RILPL2 skos:exactMatch ncbigene:196383 semapv:UnspecifiedMatching -OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:30525 semapv:UnspecifiedMatching -OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:MARVELD3 semapv:UnspecifiedMatching -OMIM:614094 MARVELD3 skos:exactMatch ncbigene:91862 semapv:UnspecifiedMatching -OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:8725 semapv:UnspecifiedMatching -OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:PCK2 semapv:UnspecifiedMatching -OMIM:614095 PCK2 skos:exactMatch ncbigene:5106 semapv:UnspecifiedMatching -OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 semapv:UnspecifiedMatching -OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching -OMIM:614106 MLIP skos:exactMatch hgnc.symbol:21355 semapv:UnspecifiedMatching -OMIM:614106 MLIP skos:exactMatch hgnc.symbol:MLIP semapv:UnspecifiedMatching -OMIM:614106 MLIP skos:exactMatch ncbigene:90523 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch UMLS:C2681636 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:21839 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:KPNA7 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch ncbigene:402569 semapv:UnspecifiedMatching -OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:16177 semapv:UnspecifiedMatching -OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:BPIFB2 semapv:UnspecifiedMatching -OMIM:614108 BPIFB2 skos:exactMatch ncbigene:80341 semapv:UnspecifiedMatching -OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:16503 semapv:UnspecifiedMatching -OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:BPIFC semapv:UnspecifiedMatching -OMIM:614109 BPIFC skos:exactMatch ncbigene:254240 semapv:UnspecifiedMatching -OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:16504 semapv:UnspecifiedMatching -OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:BPIFB6 semapv:UnspecifiedMatching -OMIM:614110 BPIFB6 skos:exactMatch ncbigene:128859 semapv:UnspecifiedMatching -OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:255138 semapv:UnspecifiedMatching -OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching -OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching -OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:31632 semapv:UnspecifiedMatching -OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:MIR320A semapv:UnspecifiedMatching -OMIM:614112 MIR320A skos:exactMatch ncbigene:407037 semapv:UnspecifiedMatching -OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching -OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch UMLS:C3279843 semapv:UnspecifiedMatching -OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:27540 semapv:UnspecifiedMatching -OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:EXOC3L1 semapv:UnspecifiedMatching -OMIM:614117 EXOC3L1 skos:exactMatch ncbigene:283849 semapv:UnspecifiedMatching -OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:13010 semapv:UnspecifiedMatching -OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:TSHZ2 semapv:UnspecifiedMatching -OMIM:614118 TSHZ2 skos:exactMatch ncbigene:128553 semapv:UnspecifiedMatching -OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:30700 semapv:UnspecifiedMatching -OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:TSHZ3 semapv:UnspecifiedMatching -OMIM:614119 TSHZ3 skos:exactMatch ncbigene:57616 semapv:UnspecifiedMatching -OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:26776 semapv:UnspecifiedMatching -OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:TENT2 semapv:UnspecifiedMatching -OMIM:614121 TENT2 skos:exactMatch ncbigene:167153 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch UMLS:C1823293 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:18188 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:TMCO1 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch ncbigene:54499 semapv:UnspecifiedMatching -OMIM:614124 GPCPD1 skos:exactMatch UMLS:C2829540 semapv:UnspecifiedMatching -OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:26957 semapv:UnspecifiedMatching -OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:GPCPD1 semapv:UnspecifiedMatching -OMIM:614124 GPCPD1 skos:exactMatch ncbigene:56261 semapv:UnspecifiedMatching -OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:19200 semapv:UnspecifiedMatching -OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:DPPA4 semapv:UnspecifiedMatching -OMIM:614125 DPPA4 skos:exactMatch ncbigene:55211 semapv:UnspecifiedMatching -OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:26189 semapv:UnspecifiedMatching -OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:MTARC1 semapv:UnspecifiedMatching -OMIM:614126 MTARC1 skos:exactMatch ncbigene:64757 semapv:UnspecifiedMatching -OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:26064 semapv:UnspecifiedMatching -OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:MTARC2 semapv:UnspecifiedMatching -OMIM:614127 MTARC2 skos:exactMatch ncbigene:54996 semapv:UnspecifiedMatching -OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:30713 semapv:UnspecifiedMatching -OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:ADAD1 semapv:UnspecifiedMatching -OMIM:614130 ADAD1 skos:exactMatch ncbigene:132612 semapv:UnspecifiedMatching -OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:27364 semapv:UnspecifiedMatching -OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:HEPACAM2 semapv:UnspecifiedMatching -OMIM:614133 HEPACAM2 skos:exactMatch ncbigene:253012 semapv:UnspecifiedMatching -OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:29169 semapv:UnspecifiedMatching -OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:TRAPPC8 semapv:UnspecifiedMatching -OMIM:614136 TRAPPC8 skos:exactMatch ncbigene:22878 semapv:UnspecifiedMatching -OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:21090 semapv:UnspecifiedMatching -OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:TRAPPC3L semapv:UnspecifiedMatching -OMIM:614137 TRAPPC3L skos:exactMatch ncbigene:100128327 semapv:UnspecifiedMatching -OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:25751 semapv:UnspecifiedMatching -OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:TRAPPC11 semapv:UnspecifiedMatching -OMIM:614138 TRAPPC11 skos:exactMatch ncbigene:60684 semapv:UnspecifiedMatching -OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:24284 semapv:UnspecifiedMatching -OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:TRAPPC12 semapv:UnspecifiedMatching -OMIM:614139 TRAPPC12 skos:exactMatch ncbigene:51112 semapv:UnspecifiedMatching -OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:29022 semapv:UnspecifiedMatching -OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:SPECC1L semapv:UnspecifiedMatching -OMIM:614140 SPECC1L skos:exactMatch ncbigene:23384 semapv:UnspecifiedMatching -OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:15974 semapv:UnspecifiedMatching -OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:TRIM2 semapv:UnspecifiedMatching -OMIM:614141 TRIM2 skos:exactMatch ncbigene:23321 semapv:UnspecifiedMatching -OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:28352 semapv:UnspecifiedMatching -OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:CUEDC2 semapv:UnspecifiedMatching -OMIM:614142 CUEDC2 skos:exactMatch ncbigene:79004 semapv:UnspecifiedMatching -OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:23620 semapv:UnspecifiedMatching -OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:IGFLR1 semapv:UnspecifiedMatching -OMIM:614143 IGFLR1 skos:exactMatch ncbigene:79713 semapv:UnspecifiedMatching -OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:24123 semapv:UnspecifiedMatching -OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:B9D1 semapv:UnspecifiedMatching -OMIM:614144 B9D1 skos:exactMatch ncbigene:27077 semapv:UnspecifiedMatching -OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:25367 semapv:UnspecifiedMatching -OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:CCDC8 semapv:UnspecifiedMatching -OMIM:614145 CCDC8 skos:exactMatch ncbigene:83987 semapv:UnspecifiedMatching -OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:17721 semapv:UnspecifiedMatching -OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:DNAAF9 semapv:UnspecifiedMatching -OMIM:614146 DNAAF9 skos:exactMatch ncbigene:25943 semapv:UnspecifiedMatching -OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:31374 semapv:UnspecifiedMatching -OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:C1QTNF8 semapv:UnspecifiedMatching -OMIM:614147 C1QTNF8 skos:exactMatch ncbigene:390664 semapv:UnspecifiedMatching -OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:34072 semapv:UnspecifiedMatching -OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:C1QTNF9B semapv:UnspecifiedMatching -OMIM:614148 C1QTNF9B skos:exactMatch ncbigene:387911 semapv:UnspecifiedMatching -OMIM:614150 PKDCC skos:exactMatch UMLS:C2828534 semapv:UnspecifiedMatching -OMIM:614150 PKDCC skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching -OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:25123 semapv:UnspecifiedMatching -OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:PKDCC semapv:UnspecifiedMatching -OMIM:614150 PKDCC skos:exactMatch ncbigene:91461 semapv:UnspecifiedMatching -OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:25539 semapv:UnspecifiedMatching -OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:RFWD3 semapv:UnspecifiedMatching -OMIM:614151 RFWD3 skos:exactMatch ncbigene:55159 semapv:UnspecifiedMatching -OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:15911 semapv:UnspecifiedMatching -OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:NOP56 semapv:UnspecifiedMatching -OMIM:614154 NOP56 skos:exactMatch ncbigene:10528 semapv:UnspecifiedMatching -OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:35364 semapv:UnspecifiedMatching -OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:MIR1292 semapv:UnspecifiedMatching -OMIM:614155 MIR1292 skos:exactMatch ncbigene:100302138 semapv:UnspecifiedMatching -OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:29222 semapv:UnspecifiedMatching -OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:ZNF644 semapv:UnspecifiedMatching -OMIM:614159 ZNF644 skos:exactMatch ncbigene:84146 semapv:UnspecifiedMatching -OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:9349 semapv:UnspecifiedMatching -OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:PRDM5 semapv:UnspecifiedMatching -OMIM:614161 PRDM5 skos:exactMatch ncbigene:11107 semapv:UnspecifiedMatching -OMIM:614162 immunodeficiency 31c skos:exactMatch Orphanet:391487 semapv:UnspecifiedMatching -OMIM:614162 immunodeficiency 31c skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching -OMIM:614167 myopia 21, autosomal dominant skos:exactMatch UMLS:C3279997 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch UMLS:C0268194 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch UMLS:C1418371 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:8724 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:PCK1 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch ncbigene:5105 semapv:UnspecifiedMatching -OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:31928 semapv:UnspecifiedMatching -OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:NBEAL2 semapv:UnspecifiedMatching -OMIM:614169 NBEAL2 skos:exactMatch ncbigene:23218 semapv:UnspecifiedMatching -OMIM:614174 MEIG1 skos:exactMatch UMLS:C1537684 semapv:UnspecifiedMatching -OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:23429 semapv:UnspecifiedMatching -OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:MEIG1 semapv:UnspecifiedMatching -OMIM:614174 MEIG1 skos:exactMatch ncbigene:644890 semapv:UnspecifiedMatching -OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:29334 semapv:UnspecifiedMatching -OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:ZFYVE28 semapv:UnspecifiedMatching -OMIM:614176 ZFYVE28 skos:exactMatch ncbigene:57732 semapv:UnspecifiedMatching -OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:28703 semapv:UnspecifiedMatching -OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:CRACR2B semapv:UnspecifiedMatching -OMIM:614177 EFCAB4A skos:exactMatch ncbigene:283229 semapv:UnspecifiedMatching -OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:28657 semapv:UnspecifiedMatching -OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:CRACR2A semapv:UnspecifiedMatching -OMIM:614178 CRACR2A skos:exactMatch ncbigene:84766 semapv:UnspecifiedMatching -OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:29286 semapv:UnspecifiedMatching -OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:ISLR2 semapv:UnspecifiedMatching -OMIM:614179 ISLR2 skos:exactMatch ncbigene:57611 semapv:UnspecifiedMatching -OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:29227 semapv:UnspecifiedMatching -OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:HEG1 semapv:UnspecifiedMatching -OMIM:614182 HEG1 skos:exactMatch ncbigene:57493 semapv:UnspecifiedMatching -OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:28698 semapv:UnspecifiedMatching -OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:DIS3L semapv:UnspecifiedMatching -OMIM:614183 DIS3L skos:exactMatch ncbigene:115752 semapv:UnspecifiedMatching -OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:28648 semapv:UnspecifiedMatching -OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:DIS3L2 semapv:UnspecifiedMatching -OMIM:614184 DIS3L2 skos:exactMatch ncbigene:129563 semapv:UnspecifiedMatching -OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:31668 semapv:UnspecifiedMatching -OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:GOLGA7B semapv:UnspecifiedMatching -OMIM:614189 GOLGA7B skos:exactMatch ncbigene:401647 semapv:UnspecifiedMatching -OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:18423 semapv:UnspecifiedMatching -OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:DEPDC5 semapv:UnspecifiedMatching -OMIM:614191 DEPDC5 skos:exactMatch ncbigene:9681 semapv:UnspecifiedMatching -OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:19189 semapv:UnspecifiedMatching -OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:DOCK6 semapv:UnspecifiedMatching -OMIM:614194 DOCK6 skos:exactMatch ncbigene:57572 semapv:UnspecifiedMatching -OMIM:614197 MCU skos:exactMatch hgnc.symbol:23526 semapv:UnspecifiedMatching -OMIM:614197 MCU skos:exactMatch hgnc.symbol:MCU semapv:UnspecifiedMatching -OMIM:614197 MCU skos:exactMatch ncbigene:90550 semapv:UnspecifiedMatching -OMIM:614202 rafiq syndrome skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching -OMIM:614202 rafiq syndrome skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching -OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching -OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:404546 semapv:UnspecifiedMatching -OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C0392439 semapv:UnspecifiedMatching -OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching -OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:24511 semapv:UnspecifiedMatching -OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:CHTOP semapv:UnspecifiedMatching -OMIM:614206 CHTOP skos:exactMatch ncbigene:26097 semapv:UnspecifiedMatching -OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:18653 semapv:UnspecifiedMatching -OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:KLHL6 semapv:UnspecifiedMatching -OMIM:614214 KLHL6 skos:exactMatch ncbigene:89857 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch UMLS:C1428365 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch UMLS:C3277074 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:24268 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:ASCC1 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch ncbigene:51008 semapv:UnspecifiedMatching -OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:24103 semapv:UnspecifiedMatching -OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:ASCC2 semapv:UnspecifiedMatching -OMIM:614216 ASCC2 skos:exactMatch ncbigene:84164 semapv:UnspecifiedMatching -OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:18697 semapv:UnspecifiedMatching -OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:ASCC3 semapv:UnspecifiedMatching -OMIM:614217 ASCC3 skos:exactMatch ncbigene:10973 semapv:UnspecifiedMatching -OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:26600 semapv:UnspecifiedMatching -OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:WDR81 semapv:UnspecifiedMatching -OMIM:614218 WDR81 skos:exactMatch ncbigene:124997 semapv:UnspecifiedMatching -OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 semapv:UnspecifiedMatching -OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch UMLS:C3280231 semapv:UnspecifiedMatching -OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:5209 semapv:UnspecifiedMatching -OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:HSD11B2 semapv:UnspecifiedMatching -OMIM:614232 HSD11B2 skos:exactMatch ncbigene:3291 semapv:UnspecifiedMatching -OMIM:614234 PIFO skos:exactMatch UMLS:C1823708 semapv:UnspecifiedMatching -OMIM:614234 PIFO skos:exactMatch hgnc.symbol:CIMAP3 semapv:UnspecifiedMatching -OMIM:614234 PIFO skos:exactMatch ncbigene:128344 semapv:UnspecifiedMatching -OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:26974 semapv:UnspecifiedMatching -OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:PDZD8 semapv:UnspecifiedMatching -OMIM:614235 PDZD8 skos:exactMatch ncbigene:118987 semapv:UnspecifiedMatching -OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:25582 semapv:UnspecifiedMatching -OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:SLC38A7 semapv:UnspecifiedMatching -OMIM:614236 SLC38A7 skos:exactMatch ncbigene:55238 semapv:UnspecifiedMatching -OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:26509 semapv:UnspecifiedMatching -OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:PHETA1 semapv:UnspecifiedMatching -OMIM:614239 PHETA1 skos:exactMatch ncbigene:144717 semapv:UnspecifiedMatching -OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:27161 semapv:UnspecifiedMatching -OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:PHETA2 semapv:UnspecifiedMatching -OMIM:614240 PHETA2 skos:exactMatch ncbigene:150368 semapv:UnspecifiedMatching -OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:26756 semapv:UnspecifiedMatching -OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:LCLAT1 semapv:UnspecifiedMatching -OMIM:614241 LCLAT1 skos:exactMatch ncbigene:253558 semapv:UnspecifiedMatching -OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:23520 semapv:UnspecifiedMatching -OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:SLC16A9 semapv:UnspecifiedMatching -OMIM:614242 SLC16A9 skos:exactMatch ncbigene:220963 semapv:UnspecifiedMatching -OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:8149 semapv:UnspecifiedMatching -OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:OPLAH semapv:UnspecifiedMatching -OMIM:614243 OPLAH skos:exactMatch ncbigene:26873 semapv:UnspecifiedMatching -OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:28995 semapv:UnspecifiedMatching -OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:PDXDC1 semapv:UnspecifiedMatching -OMIM:614244 PDXDC1 skos:exactMatch ncbigene:23042 semapv:UnspecifiedMatching -OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:27288 semapv:UnspecifiedMatching -OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:ACSF3 semapv:UnspecifiedMatching -OMIM:614245 ACSF3 skos:exactMatch ncbigene:197322 semapv:UnspecifiedMatching -OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:25875 semapv:UnspecifiedMatching -OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:NAA60 semapv:UnspecifiedMatching -OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching -OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:32112 semapv:UnspecifiedMatching -OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:MIR519D semapv:UnspecifiedMatching -OMIM:614247 MIR519D skos:exactMatch ncbigene:574480 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching -OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch UMLS:C3280282 semapv:UnspecifiedMatching -OMIM:614255 nescav syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:614255 nescav syndrome skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching -OMIM:614258 POLR3A skos:exactMatch hgnc.symbol:30074 semapv:UnspecifiedMatching -OMIM:614258 POLR3A skos:exactMatch hgnc.symbol:POLR3A semapv:UnspecifiedMatching -OMIM:614258 POLR3A skos:exactMatch ncbigene:11128 semapv:UnspecifiedMatching -OMIM:614259 CFAP57 skos:exactMatch hgnc.symbol:26485 semapv:UnspecifiedMatching -OMIM:614259 CFAP57 skos:exactMatch hgnc.symbol:CFAP57 semapv:UnspecifiedMatching -OMIM:614259 CFAP57 skos:exactMatch ncbigene:149465 semapv:UnspecifiedMatching -OMIM:614260 C9ORF72 skos:exactMatch UMLS:C1428691 semapv:UnspecifiedMatching -OMIM:614260 C9ORF72 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching -OMIM:614260 C9ORF72 skos:exactMatch hgnc.symbol:28337 semapv:UnspecifiedMatching -OMIM:614260 C9ORF72 skos:exactMatch hgnc.symbol:C9orf72 semapv:UnspecifiedMatching -OMIM:614260 C9ORF72 skos:exactMatch ncbigene:203228 semapv:UnspecifiedMatching -OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 semapv:UnspecifiedMatching -OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch UMLS:C3280296 semapv:UnspecifiedMatching -OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc.symbol:37125 semapv:UnspecifiedMatching -OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc.symbol:BACE1-AS semapv:UnspecifiedMatching -OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch ncbigene:100379571 semapv:UnspecifiedMatching -OMIM:614264 ARHGAP30 skos:exactMatch hgnc.symbol:27414 semapv:UnspecifiedMatching -OMIM:614264 ARHGAP30 skos:exactMatch hgnc.symbol:ARHGAP30 semapv:UnspecifiedMatching -OMIM:614264 ARHGAP30 skos:exactMatch ncbigene:257106 semapv:UnspecifiedMatching -OMIM:614267 ACOT6 skos:exactMatch hgnc.symbol:33159 semapv:UnspecifiedMatching -OMIM:614267 ACOT6 skos:exactMatch hgnc.symbol:ACOT6 semapv:UnspecifiedMatching -OMIM:614267 ACOT6 skos:exactMatch ncbigene:641372 semapv:UnspecifiedMatching -OMIM:614268 ADGRF4 skos:exactMatch hgnc.symbol:19011 semapv:UnspecifiedMatching -OMIM:614268 ADGRF4 skos:exactMatch hgnc.symbol:ADGRF4 semapv:UnspecifiedMatching -OMIM:614268 ADGRF4 skos:exactMatch ncbigene:221393 semapv:UnspecifiedMatching -OMIM:614269 GPR153 skos:exactMatch hgnc.symbol:23618 semapv:UnspecifiedMatching -OMIM:614269 GPR153 skos:exactMatch hgnc.symbol:GPR153 semapv:UnspecifiedMatching -OMIM:614269 GPR153 skos:exactMatch ncbigene:387509 semapv:UnspecifiedMatching -OMIM:614270 CFAP65 skos:exactMatch UMLS:C1824636 semapv:UnspecifiedMatching -OMIM:614270 CFAP65 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching -OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:25325 semapv:UnspecifiedMatching -OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:CFAP65 semapv:UnspecifiedMatching -OMIM:614270 CFAP65 skos:exactMatch ncbigene:255101 semapv:UnspecifiedMatching -OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:33451 semapv:UnspecifiedMatching -OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:CCDC137 semapv:UnspecifiedMatching -OMIM:614271 CCDC137 skos:exactMatch ncbigene:339230 semapv:UnspecifiedMatching -OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:25790 semapv:UnspecifiedMatching -OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:FASTKD5 semapv:UnspecifiedMatching -OMIM:614272 FASTKD5 skos:exactMatch ncbigene:60493 semapv:UnspecifiedMatching -OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:31271 semapv:UnspecifiedMatching -OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:OR4C46 semapv:UnspecifiedMatching -OMIM:614273 OR4C46 skos:exactMatch ncbigene:119749 semapv:UnspecifiedMatching -OMIM:614274 SBNO1 skos:exactMatch hgnc.symbol:22973 semapv:UnspecifiedMatching -OMIM:614274 SBNO1 skos:exactMatch hgnc.symbol:SBNO1 semapv:UnspecifiedMatching -OMIM:614274 SBNO1 skos:exactMatch ncbigene:55206 semapv:UnspecifiedMatching -OMIM:614275 ZNF565 skos:exactMatch hgnc.symbol:26726 semapv:UnspecifiedMatching -OMIM:614275 ZNF565 skos:exactMatch hgnc.symbol:ZNF565 semapv:UnspecifiedMatching -OMIM:614275 ZNF565 skos:exactMatch ncbigene:147929 semapv:UnspecifiedMatching -OMIM:614276 PLCL2 skos:exactMatch hgnc.symbol:9064 semapv:UnspecifiedMatching -OMIM:614276 PLCL2 skos:exactMatch hgnc.symbol:PLCL2 semapv:UnspecifiedMatching -OMIM:614276 PLCL2 skos:exactMatch ncbigene:23228 semapv:UnspecifiedMatching -OMIM:614277 UBE2W skos:exactMatch hgnc.symbol:25616 semapv:UnspecifiedMatching -OMIM:614277 UBE2W skos:exactMatch hgnc.symbol:UBE2W semapv:UnspecifiedMatching -OMIM:614277 UBE2W skos:exactMatch ncbigene:55284 semapv:UnspecifiedMatching -OMIM:614279 46,xy sex reversal 8 skos:exactMatch Orphanet:443087 semapv:UnspecifiedMatching -OMIM:614279 46,xy sex reversal 8 skos:exactMatch UMLS:C1839840 semapv:UnspecifiedMatching -OMIM:614281 ESAM skos:exactMatch hgnc.symbol:17474 semapv:UnspecifiedMatching -OMIM:614281 ESAM skos:exactMatch hgnc.symbol:ESAM semapv:UnspecifiedMatching -OMIM:614281 ESAM skos:exactMatch ncbigene:90952 semapv:UnspecifiedMatching -OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:24188 semapv:UnspecifiedMatching -OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:SDF4 semapv:UnspecifiedMatching -OMIM:614282 SDF4 skos:exactMatch ncbigene:51150 semapv:UnspecifiedMatching -OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:18713 semapv:UnspecifiedMatching -OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:GLCCI1 semapv:UnspecifiedMatching -OMIM:614283 GLCCI1 skos:exactMatch ncbigene:113263 semapv:UnspecifiedMatching -OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:28732 semapv:UnspecifiedMatching -OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:C1QTNF9 semapv:UnspecifiedMatching -OMIM:614285 C1QTNF9 skos:exactMatch ncbigene:338872 semapv:UnspecifiedMatching -OMIM:614286 myelodysplastic syndrome skos:exactMatch Orphanet:52688 semapv:UnspecifiedMatching -OMIM:614286 myelodysplastic syndrome skos:exactMatch UMLS:C3463824 semapv:UnspecifiedMatching -OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:21017 semapv:UnspecifiedMatching -OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:OFCC1 semapv:UnspecifiedMatching -OMIM:614287 OFCC1 skos:exactMatch ncbigene:266553 semapv:UnspecifiedMatching -OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:30211 semapv:UnspecifiedMatching -OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:ACAD11 semapv:UnspecifiedMatching -OMIM:614288 ACAD11 skos:exactMatch ncbigene:84129 semapv:UnspecifiedMatching -OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:15897 semapv:UnspecifiedMatching -OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:SEL1L2 semapv:UnspecifiedMatching -OMIM:614289 SEL1L2 skos:exactMatch ncbigene:80343 semapv:UnspecifiedMatching -OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:19351 semapv:UnspecifiedMatching -OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:BICC1 semapv:UnspecifiedMatching -OMIM:614295 BICC1 skos:exactMatch ncbigene:80114 semapv:UnspecifiedMatching -OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:25443 semapv:UnspecifiedMatching -OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:C19orf12 semapv:UnspecifiedMatching -OMIM:614297 C19ORF12 skos:exactMatch ncbigene:83636 semapv:UnspecifiedMatching -OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch Orphanet:401874 semapv:UnspecifiedMatching -OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching -OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:33279 semapv:UnspecifiedMatching -OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:ATXN1L semapv:UnspecifiedMatching -OMIM:614301 ATXN1L skos:exactMatch ncbigene:342371 semapv:UnspecifiedMatching -OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:31523 semapv:UnspecifiedMatching -OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:MIR137 semapv:UnspecifiedMatching -OMIM:614304 MIR137 skos:exactMatch ncbigene:406928 semapv:UnspecifiedMatching -OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:48661 semapv:UnspecifiedMatching -OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:FTCDNL1 semapv:UnspecifiedMatching -OMIM:614308 FTCDNL1 skos:exactMatch ncbigene:348751 semapv:UnspecifiedMatching -OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:26653 semapv:UnspecifiedMatching -OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:TRMT44 semapv:UnspecifiedMatching -OMIM:614309 TRMT44 skos:exactMatch ncbigene:152992 semapv:UnspecifiedMatching -OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:29972 semapv:UnspecifiedMatching -OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:CEP70 semapv:UnspecifiedMatching -OMIM:614310 CEP70 skos:exactMatch ncbigene:80321 semapv:UnspecifiedMatching -OMIM:614311 SYNDIG1 skos:exactMatch hgnc.symbol:15885 semapv:UnspecifiedMatching -OMIM:614311 SYNDIG1 skos:exactMatch hgnc.symbol:SYNDIG1 semapv:UnspecifiedMatching -OMIM:614311 SYNDIG1 skos:exactMatch ncbigene:79953 semapv:UnspecifiedMatching -OMIM:614312 ZMYND15 skos:exactMatch hgnc.symbol:20997 semapv:UnspecifiedMatching -OMIM:614312 ZMYND15 skos:exactMatch hgnc.symbol:ZMYND15 semapv:UnspecifiedMatching -OMIM:614312 ZMYND15 skos:exactMatch ncbigene:84225 semapv:UnspecifiedMatching -OMIM:614313 ACOT1 skos:exactMatch hgnc.symbol:33128 semapv:UnspecifiedMatching -OMIM:614313 ACOT1 skos:exactMatch hgnc.symbol:ACOT1 semapv:UnspecifiedMatching -OMIM:614313 ACOT1 skos:exactMatch ncbigene:641371 semapv:UnspecifiedMatching -OMIM:614314 ACOT4 skos:exactMatch hgnc.symbol:19748 semapv:UnspecifiedMatching -OMIM:614314 ACOT4 skos:exactMatch hgnc.symbol:ACOT4 semapv:UnspecifiedMatching -OMIM:614314 ACOT4 skos:exactMatch ncbigene:122970 semapv:UnspecifiedMatching -OMIM:614315 ACOT12 skos:exactMatch hgnc.symbol:24436 semapv:UnspecifiedMatching -OMIM:614315 ACOT12 skos:exactMatch hgnc.symbol:ACOT12 semapv:UnspecifiedMatching -OMIM:614315 ACOT12 skos:exactMatch ncbigene:134526 semapv:UnspecifiedMatching -OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:17792 semapv:UnspecifiedMatching -OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:VTI1A semapv:UnspecifiedMatching -OMIM:614316 VTI1A skos:exactMatch ncbigene:143187 semapv:UnspecifiedMatching -OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch Orphanet:284282 semapv:UnspecifiedMatching -OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching -OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch Orphanet:79150 semapv:UnspecifiedMatching -OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C0263579 semapv:UnspecifiedMatching -OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C1304501 semapv:UnspecifiedMatching -OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:24181 semapv:UnspecifiedMatching -OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:C1QL2 semapv:UnspecifiedMatching -OMIM:614330 C1QL2 skos:exactMatch ncbigene:165257 semapv:UnspecifiedMatching -OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:30343 semapv:UnspecifiedMatching -OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:DNAJC13 semapv:UnspecifiedMatching -OMIM:614334 DNAJC13 skos:exactMatch ncbigene:23317 semapv:UnspecifiedMatching -OMIM:614336 PAM16 skos:exactMatch hgnc.symbol:29679 semapv:UnspecifiedMatching -OMIM:614336 PAM16 skos:exactMatch hgnc.symbol:PAM16 semapv:UnspecifiedMatching -OMIM:614336 PAM16 skos:exactMatch ncbigene:51025 semapv:UnspecifiedMatching -OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:21214 semapv:UnspecifiedMatching -OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:ADTRP semapv:UnspecifiedMatching -OMIM:614348 ADTRP skos:exactMatch ncbigene:84830 semapv:UnspecifiedMatching -OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:17894 semapv:UnspecifiedMatching -OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:ZNF638 semapv:UnspecifiedMatching -OMIM:614349 ZNF638 skos:exactMatch ncbigene:27332 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch UMLS:C1428756 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch UMLS:C4225166 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:28958 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:NUP93 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch ncbigene:9688 semapv:UnspecifiedMatching -OMIM:614352 NUP205 skos:exactMatch UMLS:C1425685 semapv:UnspecifiedMatching -OMIM:614352 NUP205 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching -OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:18658 semapv:UnspecifiedMatching -OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:NUP205 semapv:UnspecifiedMatching -OMIM:614352 NUP205 skos:exactMatch ncbigene:23165 semapv:UnspecifiedMatching -OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:34340 semapv:UnspecifiedMatching -OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:HAS2-AS1 semapv:UnspecifiedMatching -OMIM:614353 HAS2AS1 skos:exactMatch ncbigene:594842 semapv:UnspecifiedMatching -OMIM:614354 pro2268 gene skos:exactMatch ncbigene:55390 semapv:UnspecifiedMatching -OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:16091 semapv:UnspecifiedMatching -OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:ACSS1 semapv:UnspecifiedMatching -OMIM:614355 ACSS1 skos:exactMatch ncbigene:84532 semapv:UnspecifiedMatching -OMIM:614356 ACSS3 skos:exactMatch hgnc.symbol:24723 semapv:UnspecifiedMatching -OMIM:614356 ACSS3 skos:exactMatch hgnc.symbol:ACSS3 semapv:UnspecifiedMatching -OMIM:614356 ACSS3 skos:exactMatch ncbigene:79611 semapv:UnspecifiedMatching -OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:18049 semapv:UnspecifiedMatching -OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:ACSM1 semapv:UnspecifiedMatching -OMIM:614357 ACSM1 skos:exactMatch ncbigene:116285 semapv:UnspecifiedMatching -OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:32017 semapv:UnspecifiedMatching -OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:ACSM2A semapv:UnspecifiedMatching -OMIM:614358 ACSM2A skos:exactMatch ncbigene:123876 semapv:UnspecifiedMatching -OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:30931 semapv:UnspecifiedMatching -OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:ACSM2B semapv:UnspecifiedMatching -OMIM:614359 ACSM2B skos:exactMatch ncbigene:348158 semapv:UnspecifiedMatching -OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:32016 semapv:UnspecifiedMatching -OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:ACSM4 semapv:UnspecifiedMatching -OMIM:614360 ACSM4 skos:exactMatch ncbigene:341392 semapv:UnspecifiedMatching -OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:26060 semapv:UnspecifiedMatching -OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:ACSM5 semapv:UnspecifiedMatching -OMIM:614361 ACSM5 skos:exactMatch ncbigene:54988 semapv:UnspecifiedMatching -OMIM:614362 ACSBG1 skos:exactMatch hgnc.symbol:29567 semapv:UnspecifiedMatching -OMIM:614362 ACSBG1 skos:exactMatch hgnc.symbol:ACSBG1 semapv:UnspecifiedMatching -OMIM:614362 ACSBG1 skos:exactMatch ncbigene:23205 semapv:UnspecifiedMatching -OMIM:614363 ACSBG2 skos:exactMatch hgnc.symbol:24174 semapv:UnspecifiedMatching -OMIM:614363 ACSBG2 skos:exactMatch hgnc.symbol:ACSBG2 semapv:UnspecifiedMatching -OMIM:614363 ACSBG2 skos:exactMatch ncbigene:81616 semapv:UnspecifiedMatching -OMIM:614364 AACS skos:exactMatch hgnc.symbol:21298 semapv:UnspecifiedMatching -OMIM:614364 AACS skos:exactMatch hgnc.symbol:AACS semapv:UnspecifiedMatching -OMIM:614364 AACS skos:exactMatch ncbigene:65985 semapv:UnspecifiedMatching -OMIM:614365 AASDH skos:exactMatch hgnc.symbol:23993 semapv:UnspecifiedMatching -OMIM:614365 AASDH skos:exactMatch hgnc.symbol:AASDH semapv:UnspecifiedMatching -OMIM:614365 AASDH skos:exactMatch ncbigene:132949 semapv:UnspecifiedMatching -OMIM:614366 POLR3B skos:exactMatch hgnc.symbol:30348 semapv:UnspecifiedMatching -OMIM:614366 POLR3B skos:exactMatch hgnc.symbol:POLR3B semapv:UnspecifiedMatching -OMIM:614366 POLR3B skos:exactMatch ncbigene:55703 semapv:UnspecifiedMatching -OMIM:614367 AP5B1 skos:exactMatch hgnc.symbol:25104 semapv:UnspecifiedMatching -OMIM:614367 AP5B1 skos:exactMatch hgnc.symbol:AP5B1 semapv:UnspecifiedMatching -OMIM:614367 AP5B1 skos:exactMatch ncbigene:91056 semapv:UnspecifiedMatching -OMIM:614368 AP5M1 skos:exactMatch hgnc.symbol:20192 semapv:UnspecifiedMatching -OMIM:614368 AP5M1 skos:exactMatch hgnc.symbol:AP5M1 semapv:UnspecifiedMatching -OMIM:614368 AP5M1 skos:exactMatch ncbigene:55745 semapv:UnspecifiedMatching -OMIM:614384 MIR492 skos:exactMatch hgnc.symbol:32081 semapv:UnspecifiedMatching -OMIM:614384 MIR492 skos:exactMatch hgnc.symbol:MIR492 semapv:UnspecifiedMatching -OMIM:614384 MIR492 skos:exactMatch ncbigene:574449 semapv:UnspecifiedMatching -OMIM:614386 PRRT2 skos:exactMatch hgnc.symbol:30500 semapv:UnspecifiedMatching -OMIM:614386 PRRT2 skos:exactMatch hgnc.symbol:PRRT2 semapv:UnspecifiedMatching -OMIM:614386 PRRT2 skos:exactMatch ncbigene:112476 semapv:UnspecifiedMatching -OMIM:614387 ZNF526 skos:exactMatch hgnc.symbol:29415 semapv:UnspecifiedMatching -OMIM:614387 ZNF526 skos:exactMatch hgnc.symbol:ZNF526 semapv:UnspecifiedMatching -OMIM:614387 ZNF526 skos:exactMatch ncbigene:116115 semapv:UnspecifiedMatching -OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch Orphanet:330050 semapv:UnspecifiedMatching -OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching -OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:20612 semapv:UnspecifiedMatching -OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:TDRD3 semapv:UnspecifiedMatching -OMIM:614392 TDRD3 skos:exactMatch ncbigene:81550 semapv:UnspecifiedMatching -OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:21257 semapv:UnspecifiedMatching -OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:OARD1 semapv:UnspecifiedMatching -OMIM:614393 OARD1 skos:exactMatch ncbigene:221443 semapv:UnspecifiedMatching -OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:30989 semapv:UnspecifiedMatching -OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:IFT20 semapv:UnspecifiedMatching -OMIM:614394 IFT20 skos:exactMatch ncbigene:90410 semapv:UnspecifiedMatching -OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:29066 semapv:UnspecifiedMatching -OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:GPATCH8 semapv:UnspecifiedMatching -OMIM:614396 GPATCH8 skos:exactMatch ncbigene:23131 semapv:UnspecifiedMatching -OMIM:614397 MFSD2A skos:exactMatch UMLS:C1825980 semapv:UnspecifiedMatching -OMIM:614397 MFSD2A skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching -OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:25897 semapv:UnspecifiedMatching -OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:MFSD2A semapv:UnspecifiedMatching -OMIM:614397 MFSD2A skos:exactMatch ncbigene:84879 semapv:UnspecifiedMatching -OMIM:614398 JCAD skos:exactMatch hgnc.symbol:29283 semapv:UnspecifiedMatching -OMIM:614398 JCAD skos:exactMatch hgnc.symbol:JCAD semapv:UnspecifiedMatching -OMIM:614398 JCAD skos:exactMatch ncbigene:57608 semapv:UnspecifiedMatching -OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:20561 semapv:UnspecifiedMatching -OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:RHBDF1 semapv:UnspecifiedMatching -OMIM:614403 RHBDF1 skos:exactMatch ncbigene:64285 semapv:UnspecifiedMatching -OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:20788 semapv:UnspecifiedMatching -OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:RHBDF2 semapv:UnspecifiedMatching -OMIM:614404 RHBDF2 skos:exactMatch ncbigene:79651 semapv:UnspecifiedMatching -OMIM:614405 DHX33 skos:exactMatch UMLS:C1424504 semapv:UnspecifiedMatching -OMIM:614405 DHX33 skos:exactMatch hgnc.symbol:16718 semapv:UnspecifiedMatching -OMIM:614405 DHX33 skos:exactMatch hgnc.symbol:DHX33 semapv:UnspecifiedMatching -OMIM:614405 DHX33 skos:exactMatch ncbigene:56919 semapv:UnspecifiedMatching -OMIM:614406 SCIMP skos:exactMatch hgnc.symbol:33504 semapv:UnspecifiedMatching -OMIM:614406 SCIMP skos:exactMatch hgnc.symbol:SCIMP semapv:UnspecifiedMatching -OMIM:614406 SCIMP skos:exactMatch ncbigene:388325 semapv:UnspecifiedMatching -OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:26714 semapv:UnspecifiedMatching -OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:AFAP1L1 semapv:UnspecifiedMatching -OMIM:614410 AFAP1L1 skos:exactMatch ncbigene:134265 semapv:UnspecifiedMatching -OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:24746 semapv:UnspecifiedMatching -OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:TOPAZ1 semapv:UnspecifiedMatching -OMIM:614412 TOPAZ1 skos:exactMatch ncbigene:375337 semapv:UnspecifiedMatching -OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:24104 semapv:UnspecifiedMatching -OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:ACY3 semapv:UnspecifiedMatching -OMIM:614413 ACY3 skos:exactMatch ncbigene:91703 semapv:UnspecifiedMatching -OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching -OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch UMLS:C3280742 semapv:UnspecifiedMatching -OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:14432 semapv:UnspecifiedMatching -OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:TMEM237 semapv:UnspecifiedMatching -OMIM:614423 TMEM237 skos:exactMatch ncbigene:65062 semapv:UnspecifiedMatching -OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:29029 semapv:UnspecifiedMatching -OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:TTI1 semapv:UnspecifiedMatching -OMIM:614425 TTI1 skos:exactMatch ncbigene:9675 semapv:UnspecifiedMatching -OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:26262 semapv:UnspecifiedMatching -OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:TTI2 semapv:UnspecifiedMatching -OMIM:614426 TTI2 skos:exactMatch ncbigene:80185 semapv:UnspecifiedMatching -OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:10669 semapv:UnspecifiedMatching -OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:TSHZ1 semapv:UnspecifiedMatching -OMIM:614427 TSHZ1 skos:exactMatch ncbigene:10194 semapv:UnspecifiedMatching -OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:30774 semapv:UnspecifiedMatching -OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:TFAP2E semapv:UnspecifiedMatching -OMIM:614428 TFAP2E skos:exactMatch ncbigene:339488 semapv:UnspecifiedMatching -OMIM:614439 ARL14 skos:exactMatch UMLS:C1824214 semapv:UnspecifiedMatching -OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:22974 semapv:UnspecifiedMatching -OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:ARL14 semapv:UnspecifiedMatching -OMIM:614439 ARL14 skos:exactMatch ncbigene:80117 semapv:UnspecifiedMatching -OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:19093 semapv:UnspecifiedMatching -OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:PSD3 semapv:UnspecifiedMatching -OMIM:614440 PSD3 skos:exactMatch ncbigene:23362 semapv:UnspecifiedMatching -OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:19096 semapv:UnspecifiedMatching -OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:PSD4 semapv:UnspecifiedMatching -OMIM:614442 PSD4 skos:exactMatch ncbigene:23550 semapv:UnspecifiedMatching -OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:15531 semapv:UnspecifiedMatching -OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:EBNA1BP2 semapv:UnspecifiedMatching -OMIM:614443 EBNA1BP2 skos:exactMatch ncbigene:10969 semapv:UnspecifiedMatching -OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:16851 semapv:UnspecifiedMatching -OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:RALGPS1 semapv:UnspecifiedMatching -OMIM:614444 RALGPS1 skos:exactMatch ncbigene:9649 semapv:UnspecifiedMatching -OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:19197 semapv:UnspecifiedMatching -OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:DPPA2 semapv:UnspecifiedMatching -OMIM:614445 DPPA2 skos:exactMatch ncbigene:151871 semapv:UnspecifiedMatching -OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:13541 semapv:UnspecifiedMatching -OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:ATP9B semapv:UnspecifiedMatching -OMIM:614446 ATP9B skos:exactMatch ncbigene:374868 semapv:UnspecifiedMatching -OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:30229 semapv:UnspecifiedMatching -OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:G0S2 semapv:UnspecifiedMatching -OMIM:614447 G0S2 skos:exactMatch ncbigene:50486 semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch UMLS:C3280816 semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch hgnc.symbol:40049 semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch hgnc.symbol:GMNC semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch ncbigene:647309 semapv:UnspecifiedMatching -OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:14257 semapv:UnspecifiedMatching -OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:PCDH20 semapv:UnspecifiedMatching -OMIM:614449 PCDH20 skos:exactMatch ncbigene:64881 semapv:UnspecifiedMatching -OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:26292 semapv:UnspecifiedMatching -OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:ELOVL7 semapv:UnspecifiedMatching -OMIM:614451 ELOVL7 skos:exactMatch ncbigene:79993 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch UMLS:C1428532 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch UMLS:C4693933 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:25903 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:ATAD1 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch ncbigene:84896 semapv:UnspecifiedMatching -OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:18531 semapv:UnspecifiedMatching -OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:LRRC7 semapv:UnspecifiedMatching -OMIM:614453 LRRC7 skos:exactMatch ncbigene:57554 semapv:UnspecifiedMatching -OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:16803 semapv:UnspecifiedMatching -OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:UBE3C semapv:UnspecifiedMatching -OMIM:614454 UBE3C skos:exactMatch ncbigene:9690 semapv:UnspecifiedMatching -OMIM:614459 TMEM138 skos:exactMatch hgnc.symbol:26944 semapv:UnspecifiedMatching -OMIM:614459 TMEM138 skos:exactMatch hgnc.symbol:TMEM138 semapv:UnspecifiedMatching -OMIM:614459 TMEM138 skos:exactMatch ncbigene:51524 semapv:UnspecifiedMatching -OMIM:614460 USP47 skos:exactMatch hgnc.symbol:20076 semapv:UnspecifiedMatching -OMIM:614460 USP47 skos:exactMatch hgnc.symbol:USP47 semapv:UnspecifiedMatching -OMIM:614460 USP47 skos:exactMatch ncbigene:55031 semapv:UnspecifiedMatching -OMIM:614461 UQCC2 skos:exactMatch hgnc.symbol:21237 semapv:UnspecifiedMatching -OMIM:614461 UQCC2 skos:exactMatch hgnc.symbol:UQCC2 semapv:UnspecifiedMatching -OMIM:614461 UQCC2 skos:exactMatch ncbigene:84300 semapv:UnspecifiedMatching -OMIM:614463 NDRG4 skos:exactMatch hgnc.symbol:14466 semapv:UnspecifiedMatching -OMIM:614463 NDRG4 skos:exactMatch hgnc.symbol:NDRG4 semapv:UnspecifiedMatching -OMIM:614463 NDRG4 skos:exactMatch ncbigene:65009 semapv:UnspecifiedMatching -OMIM:614469 SRRT skos:exactMatch UMLS:C2680450 semapv:UnspecifiedMatching -OMIM:614469 SRRT skos:exactMatch hgnc.symbol:24101 semapv:UnspecifiedMatching -OMIM:614469 SRRT skos:exactMatch hgnc.symbol:SRRT semapv:UnspecifiedMatching -OMIM:614469 SRRT skos:exactMatch ncbigene:51593 semapv:UnspecifiedMatching -OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch Orphanet:268114 semapv:UnspecifiedMatching -OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch UMLS:C2674723 semapv:UnspecifiedMatching -OMIM:614471 USP19 skos:exactMatch hgnc.symbol:12617 semapv:UnspecifiedMatching -OMIM:614471 USP19 skos:exactMatch hgnc.symbol:USP19 semapv:UnspecifiedMatching -OMIM:614471 USP19 skos:exactMatch ncbigene:10869 semapv:UnspecifiedMatching -OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:21148 semapv:UnspecifiedMatching -OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:RNF123 semapv:UnspecifiedMatching -OMIM:614472 RNF123 skos:exactMatch ncbigene:63891 semapv:UnspecifiedMatching -OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:25835 semapv:UnspecifiedMatching -OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:THSD4 semapv:UnspecifiedMatching -OMIM:614476 THSD4 skos:exactMatch ncbigene:79875 semapv:UnspecifiedMatching -OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:27232 semapv:UnspecifiedMatching -OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:CFAP418 semapv:UnspecifiedMatching -OMIM:614477 CFAP418 skos:exactMatch ncbigene:157657 semapv:UnspecifiedMatching -OMIM:614478 COX14 skos:exactMatch UMLS:C1824382 semapv:UnspecifiedMatching -OMIM:614478 COX14 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching -OMIM:614478 COX14 skos:exactMatch hgnc.symbol:28216 semapv:UnspecifiedMatching -OMIM:614478 COX14 skos:exactMatch hgnc.symbol:COX14 semapv:UnspecifiedMatching -OMIM:614478 COX14 skos:exactMatch ncbigene:84987 semapv:UnspecifiedMatching -OMIM:614479 MCAT skos:exactMatch hgnc.symbol:29622 semapv:UnspecifiedMatching -OMIM:614479 MCAT skos:exactMatch hgnc.symbol:MCAT semapv:UnspecifiedMatching -OMIM:614479 MCAT skos:exactMatch ncbigene:27349 semapv:UnspecifiedMatching -OMIM:614481 ATXN7AS1 skos:exactMatch hgnc.symbol:43718 semapv:UnspecifiedMatching -OMIM:614481 ATXN7AS1 skos:exactMatch hgnc.symbol:SCAANT1 semapv:UnspecifiedMatching -OMIM:614481 ATXN7AS1 skos:exactMatch ncbigene:100861563 semapv:UnspecifiedMatching -OMIM:614483 brain small vessel disease 2 skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching -OMIM:614483 brain small vessel disease 2 skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching -OMIM:614483 brain small vessel disease 2 skos:exactMatch UMLS:C3280970 semapv:UnspecifiedMatching -OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:24540 semapv:UnspecifiedMatching -OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:ANAPC13 semapv:UnspecifiedMatching -OMIM:614484 ANAPC13 skos:exactMatch ncbigene:25847 semapv:UnspecifiedMatching -OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch Orphanet:313772 semapv:UnspecifiedMatching -OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching -OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:35323 semapv:UnspecifiedMatching -OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:MIR1258 semapv:UnspecifiedMatching -OMIM:614488 MIR1258 skos:exactMatch ncbigene:100302172 semapv:UnspecifiedMatching -OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:32872 semapv:UnspecifiedMatching -OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:MIR616 semapv:UnspecifiedMatching -OMIM:614489 MIR616 skos:exactMatch ncbigene:693201 semapv:UnspecifiedMatching -OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching -OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching -OMIM:614502 PIERCE1 skos:exactMatch hgnc.symbol:28435 semapv:UnspecifiedMatching -OMIM:614502 PIERCE1 skos:exactMatch hgnc.symbol:PIERCE1 semapv:UnspecifiedMatching -OMIM:614502 PIERCE1 skos:exactMatch ncbigene:138162 semapv:UnspecifiedMatching -OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:25573 semapv:UnspecifiedMatching -OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:KLHDC8A semapv:UnspecifiedMatching -OMIM:614503 KLHDC8A skos:exactMatch ncbigene:55220 semapv:UnspecifiedMatching -OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:18625 semapv:UnspecifiedMatching -OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:FKBP14 semapv:UnspecifiedMatching -OMIM:614505 FKBP14 skos:exactMatch ncbigene:55033 semapv:UnspecifiedMatching -OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:21701 semapv:UnspecifiedMatching -OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:BRAT1 semapv:UnspecifiedMatching -OMIM:614506 BRAT1 skos:exactMatch ncbigene:221927 semapv:UnspecifiedMatching -OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:31650 semapv:UnspecifiedMatching -OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:MIR99A semapv:UnspecifiedMatching -OMIM:614509 MIR99A skos:exactMatch ncbigene:407055 semapv:UnspecifiedMatching -OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:31651 semapv:UnspecifiedMatching -OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:MIR99B semapv:UnspecifiedMatching -OMIM:614510 MIR99B skos:exactMatch ncbigene:407056 semapv:UnspecifiedMatching -OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:28870 semapv:UnspecifiedMatching -OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:MDFIC semapv:UnspecifiedMatching -OMIM:614511 MDFIC skos:exactMatch ncbigene:29969 semapv:UnspecifiedMatching -OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:29456 semapv:UnspecifiedMatching -OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:TOR1AIP1 semapv:UnspecifiedMatching -OMIM:614512 TOR1AIP1 skos:exactMatch ncbigene:26092 semapv:UnspecifiedMatching -OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:24055 semapv:UnspecifiedMatching -OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:TOR1AIP2 semapv:UnspecifiedMatching -OMIM:614513 TOR1AIP2 skos:exactMatch ncbigene:163590 semapv:UnspecifiedMatching -OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:31371 semapv:UnspecifiedMatching -OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:GPR179 semapv:UnspecifiedMatching -OMIM:614515 GPR179 skos:exactMatch ncbigene:440435 semapv:UnspecifiedMatching -OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:29565 semapv:UnspecifiedMatching -OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:DOLPP1 semapv:UnspecifiedMatching -OMIM:614516 DOLPP1 skos:exactMatch ncbigene:57171 semapv:UnspecifiedMatching -OMIM:614517 BMAL2 skos:exactMatch hgnc.symbol:BMAL2 semapv:UnspecifiedMatching -OMIM:614517 BMAL2 skos:exactMatch ncbigene:56938 semapv:UnspecifiedMatching -OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:29941 semapv:UnspecifiedMatching -OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:GATAD1 semapv:UnspecifiedMatching -OMIM:614518 GATAD1 skos:exactMatch ncbigene:57798 semapv:UnspecifiedMatching -OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:19360 semapv:UnspecifiedMatching -OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:KLHL12 semapv:UnspecifiedMatching -OMIM:614522 KLHL12 skos:exactMatch ncbigene:59349 semapv:UnspecifiedMatching -OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:32074 semapv:UnspecifiedMatching -OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:MIR489 semapv:UnspecifiedMatching -OMIM:614523 MIR489 skos:exactMatch ncbigene:574442 semapv:UnspecifiedMatching -OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:25906 semapv:UnspecifiedMatching -OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:NFATC2IP semapv:UnspecifiedMatching -OMIM:614525 NFATC2IP skos:exactMatch ncbigene:84901 semapv:UnspecifiedMatching -OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:43014 semapv:UnspecifiedMatching -OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:HIF1A-AS1 semapv:UnspecifiedMatching -OMIM:614528 HIF1AAS1 skos:exactMatch ncbigene:100750246 semapv:UnspecifiedMatching -OMIM:614529 HIF1AAS2 skos:exactMatch hgnc.symbol:43015 semapv:UnspecifiedMatching -OMIM:614529 HIF1AAS2 skos:exactMatch hgnc.symbol:HIF1A-AS2 semapv:UnspecifiedMatching -OMIM:614529 HIF1AAS2 skos:exactMatch ncbigene:100750247 semapv:UnspecifiedMatching -OMIM:614530 NDUFA12 skos:exactMatch hgnc.symbol:23987 semapv:UnspecifiedMatching -OMIM:614530 NDUFA12 skos:exactMatch hgnc.symbol:NDUFA12 semapv:UnspecifiedMatching -OMIM:614530 NDUFA12 skos:exactMatch ncbigene:55967 semapv:UnspecifiedMatching -OMIM:614531 RASGEF1A skos:exactMatch hgnc.symbol:24246 semapv:UnspecifiedMatching -OMIM:614531 RASGEF1A skos:exactMatch hgnc.symbol:RASGEF1A semapv:UnspecifiedMatching -OMIM:614531 RASGEF1A skos:exactMatch ncbigene:221002 semapv:UnspecifiedMatching -OMIM:614532 RASGEF1B skos:exactMatch hgnc.symbol:24881 semapv:UnspecifiedMatching -OMIM:614532 RASGEF1B skos:exactMatch hgnc.symbol:RASGEF1B semapv:UnspecifiedMatching -OMIM:614532 RASGEF1B skos:exactMatch ncbigene:153020 semapv:UnspecifiedMatching -OMIM:614533 CDC26 skos:exactMatch hgnc.symbol:17839 semapv:UnspecifiedMatching -OMIM:614533 CDC26 skos:exactMatch hgnc.symbol:CDC26 semapv:UnspecifiedMatching -OMIM:614533 CDC26 skos:exactMatch ncbigene:246184 semapv:UnspecifiedMatching -OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:14452 semapv:UnspecifiedMatching -OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:ANAPC11 semapv:UnspecifiedMatching -OMIM:614534 ANAPC11 skos:exactMatch ncbigene:51529 semapv:UnspecifiedMatching -OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:26993 semapv:UnspecifiedMatching -OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:ZSWIM7 semapv:UnspecifiedMatching -OMIM:614535 ZSWIM7 skos:exactMatch ncbigene:125150 semapv:UnspecifiedMatching -OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:26638 semapv:UnspecifiedMatching -OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:SWSAP1 semapv:UnspecifiedMatching -OMIM:614536 SWSAP1 skos:exactMatch ncbigene:126074 semapv:UnspecifiedMatching -OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:23405 semapv:UnspecifiedMatching -OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:LRMDA semapv:UnspecifiedMatching -OMIM:614537 LRMDA skos:exactMatch ncbigene:83938 semapv:UnspecifiedMatching -OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:32826 semapv:UnspecifiedMatching -OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:MIR570 semapv:UnspecifiedMatching -OMIM:614538 MIR570 skos:exactMatch ncbigene:693155 semapv:UnspecifiedMatching -OMIM:614539 HELB skos:exactMatch hgnc.symbol:17196 semapv:UnspecifiedMatching -OMIM:614539 HELB skos:exactMatch hgnc.symbol:HELB semapv:UnspecifiedMatching -OMIM:614539 HELB skos:exactMatch ncbigene:92797 semapv:UnspecifiedMatching -OMIM:614542 DIPK1A skos:exactMatch hgnc.symbol:32213 semapv:UnspecifiedMatching -OMIM:614542 DIPK1A skos:exactMatch hgnc.symbol:DIPK1A semapv:UnspecifiedMatching -OMIM:614542 DIPK1A skos:exactMatch ncbigene:388650 semapv:UnspecifiedMatching -OMIM:614543 DIPK1B skos:exactMatch hgnc.symbol:28290 semapv:UnspecifiedMatching -OMIM:614543 DIPK1B skos:exactMatch hgnc.symbol:DIPK1B semapv:UnspecifiedMatching -OMIM:614543 DIPK1B skos:exactMatch ncbigene:138311 semapv:UnspecifiedMatching -OMIM:614544 DIPK1C skos:exactMatch hgnc.symbol:31729 semapv:UnspecifiedMatching -OMIM:614544 DIPK1C skos:exactMatch hgnc.symbol:DIPK1C semapv:UnspecifiedMatching -OMIM:614544 DIPK1C skos:exactMatch ncbigene:125704 semapv:UnspecifiedMatching -OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:27609 semapv:UnspecifiedMatching -OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:EMC10 semapv:UnspecifiedMatching -OMIM:614545 EMC10 skos:exactMatch ncbigene:284361 semapv:UnspecifiedMatching -OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:31022 semapv:UnspecifiedMatching -OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:RAMAC semapv:UnspecifiedMatching -OMIM:614547 FAM103A1 skos:exactMatch ncbigene:83640 semapv:UnspecifiedMatching -OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:13464 semapv:UnspecifiedMatching -OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:SERINC1 semapv:UnspecifiedMatching -OMIM:614548 SERINC1 skos:exactMatch ncbigene:57515 semapv:UnspecifiedMatching -OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:23231 semapv:UnspecifiedMatching -OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:SERINC2 semapv:UnspecifiedMatching -OMIM:614549 SERINC2 skos:exactMatch ncbigene:347735 semapv:UnspecifiedMatching -OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:32237 semapv:UnspecifiedMatching -OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:SERINC4 semapv:UnspecifiedMatching -OMIM:614550 SERINC4 skos:exactMatch ncbigene:619189 semapv:UnspecifiedMatching -OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:18825 semapv:UnspecifiedMatching -OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:SERINC5 semapv:UnspecifiedMatching -OMIM:614551 SERINC5 skos:exactMatch ncbigene:256987 semapv:UnspecifiedMatching -OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:26639 semapv:UnspecifiedMatching -OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:XXYLT1 semapv:UnspecifiedMatching -OMIM:614552 XXYLT1 skos:exactMatch ncbigene:152002 semapv:UnspecifiedMatching -OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:16021 semapv:UnspecifiedMatching -OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:N6AMT1 semapv:UnspecifiedMatching -OMIM:614553 N6AMT1 skos:exactMatch ncbigene:29104 semapv:UnspecifiedMatching -OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:24563 semapv:UnspecifiedMatching -OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:FAM32A semapv:UnspecifiedMatching -OMIM:614554 FAM32A skos:exactMatch ncbigene:26017 semapv:UnspecifiedMatching -OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:19839 semapv:UnspecifiedMatching -OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:FRMD6 semapv:UnspecifiedMatching -OMIM:614555 FRMD6 skos:exactMatch ncbigene:122786 semapv:UnspecifiedMatching -OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:18040 semapv:UnspecifiedMatching -OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:ARID1B semapv:UnspecifiedMatching -OMIM:614556 ARID1B skos:exactMatch ncbigene:57492 semapv:UnspecifiedMatching -OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching -OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 semapv:UnspecifiedMatching -OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch UMLS:C1428798 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:29140 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:MAU2 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch ncbigene:23383 semapv:UnspecifiedMatching -OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch Orphanet:313846 semapv:UnspecifiedMatching -OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching -OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:30492 semapv:UnspecifiedMatching -OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:DNAAF3 semapv:UnspecifiedMatching -OMIM:614566 DNAAF3 skos:exactMatch ncbigene:352909 semapv:UnspecifiedMatching -OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:15480 semapv:UnspecifiedMatching -OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:DIAPH3 semapv:UnspecifiedMatching -OMIM:614567 DIAPH3 skos:exactMatch ncbigene:81624 semapv:UnspecifiedMatching -OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:23149 semapv:UnspecifiedMatching -OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:UNC13C semapv:UnspecifiedMatching -OMIM:614568 UNC13C skos:exactMatch ncbigene:440279 semapv:UnspecifiedMatching -OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:27102 semapv:UnspecifiedMatching -OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:KIF18B semapv:UnspecifiedMatching -OMIM:614570 KIF18B skos:exactMatch ncbigene:146909 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2240273 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2745997 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch UMLS:C3553264 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:25801 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:CPLANE1 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch ncbigene:65250 semapv:UnspecifiedMatching -OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:30949 semapv:UnspecifiedMatching -OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:ZFP42 semapv:UnspecifiedMatching -OMIM:614572 ZFP42 skos:exactMatch ncbigene:132625 semapv:UnspecifiedMatching -OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:23689 semapv:UnspecifiedMatching -OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:GPR158 semapv:UnspecifiedMatching -OMIM:614573 GPR158 skos:exactMatch ncbigene:57512 semapv:UnspecifiedMatching -OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:29478 semapv:UnspecifiedMatching -OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:ROGDI semapv:UnspecifiedMatching -OMIM:614574 ROGDI skos:exactMatch ncbigene:79641 semapv:UnspecifiedMatching -OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch Orphanet:504476 semapv:UnspecifiedMatching -OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching -OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:30130 semapv:UnspecifiedMatching -OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:PAQR3 semapv:UnspecifiedMatching -OMIM:614577 PAQR3 skos:exactMatch ncbigene:152559 semapv:UnspecifiedMatching -OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:26386 semapv:UnspecifiedMatching -OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:PAQR4 semapv:UnspecifiedMatching -OMIM:614578 PAQR4 skos:exactMatch ncbigene:124222 semapv:UnspecifiedMatching -OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:30132 semapv:UnspecifiedMatching -OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:PAQR6 semapv:UnspecifiedMatching -OMIM:614579 PAQR6 skos:exactMatch ncbigene:79957 semapv:UnspecifiedMatching -OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:30131 semapv:UnspecifiedMatching -OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:PAQR9 semapv:UnspecifiedMatching -OMIM:614580 PAQR9 skos:exactMatch ncbigene:344838 semapv:UnspecifiedMatching -OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:30133 semapv:UnspecifiedMatching -OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:MMD2 semapv:UnspecifiedMatching -OMIM:614581 MMD2 skos:exactMatch ncbigene:221938 semapv:UnspecifiedMatching -OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:28858 semapv:UnspecifiedMatching -OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:P4HTM semapv:UnspecifiedMatching -OMIM:614584 P4HTM skos:exactMatch ncbigene:54681 semapv:UnspecifiedMatching -OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:30546 semapv:UnspecifiedMatching -OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:FDX2 semapv:UnspecifiedMatching -OMIM:614585 FDX2 skos:exactMatch ncbigene:112812 semapv:UnspecifiedMatching -OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:18472 semapv:UnspecifiedMatching -OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:ZDHHC5 semapv:UnspecifiedMatching -OMIM:614586 ZDHHC5 skos:exactMatch ncbigene:25921 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch UMLS:C1824730 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:28680 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:CHAC1 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch ncbigene:79094 semapv:UnspecifiedMatching -OMIM:614589 SKIC3 skos:exactMatch hgnc.symbol:SKIC3 semapv:UnspecifiedMatching -OMIM:614589 SKIC3 skos:exactMatch ncbigene:9652 semapv:UnspecifiedMatching -OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:31948 semapv:UnspecifiedMatching -OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:CEACAM16 semapv:UnspecifiedMatching -OMIM:614591 CEACAM16 skos:exactMatch ncbigene:388551 semapv:UnspecifiedMatching -OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:29562 semapv:UnspecifiedMatching -OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:MARF1 semapv:UnspecifiedMatching -OMIM:614593 MARF1 skos:exactMatch ncbigene:9665 semapv:UnspecifiedMatching -OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:31623 semapv:UnspecifiedMatching -OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:MIR302A semapv:UnspecifiedMatching -OMIM:614596 MIR302A skos:exactMatch ncbigene:407028 semapv:UnspecifiedMatching -OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:31763 semapv:UnspecifiedMatching -OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:MIR302B semapv:UnspecifiedMatching -OMIM:614597 MIR302B skos:exactMatch ncbigene:442894 semapv:UnspecifiedMatching -OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:31764 semapv:UnspecifiedMatching -OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:MIR302C semapv:UnspecifiedMatching -OMIM:614598 MIR302C skos:exactMatch ncbigene:442895 semapv:UnspecifiedMatching -OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:31765 semapv:UnspecifiedMatching -OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:MIR302D semapv:UnspecifiedMatching -OMIM:614599 MIR302D skos:exactMatch ncbigene:442896 semapv:UnspecifiedMatching -OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:31781 semapv:UnspecifiedMatching -OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:MIR367 semapv:UnspecifiedMatching -OMIM:614600 MIR367 skos:exactMatch ncbigene:442912 semapv:UnspecifiedMatching -OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:14104 semapv:UnspecifiedMatching -OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:ZNF326 semapv:UnspecifiedMatching -OMIM:614601 ZNF326 skos:exactMatch ncbigene:284695 semapv:UnspecifiedMatching -OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:19714 semapv:UnspecifiedMatching -OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:DDHD1 semapv:UnspecifiedMatching -OMIM:614603 DDHD1 skos:exactMatch ncbigene:80821 semapv:UnspecifiedMatching -OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:18459 semapv:UnspecifiedMatching -OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:ZDHHC7 semapv:UnspecifiedMatching -OMIM:614604 ZDHHC7 skos:exactMatch ncbigene:55625 semapv:UnspecifiedMatching -OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:20750 semapv:UnspecifiedMatching -OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:ZDHHC21 semapv:UnspecifiedMatching -OMIM:614605 ZDHHC21 skos:exactMatch ncbigene:340481 semapv:UnspecifiedMatching -OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:23377 semapv:UnspecifiedMatching -OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:FOCAD semapv:UnspecifiedMatching -OMIM:614606 FOCAD skos:exactMatch ncbigene:54914 semapv:UnspecifiedMatching -OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:29300 semapv:UnspecifiedMatching -OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:KANK2 semapv:UnspecifiedMatching -OMIM:614610 KANK2 skos:exactMatch ncbigene:25959 semapv:UnspecifiedMatching -OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:24796 semapv:UnspecifiedMatching -OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:KANK3 semapv:UnspecifiedMatching -OMIM:614611 KANK3 skos:exactMatch ncbigene:256949 semapv:UnspecifiedMatching -OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:27263 semapv:UnspecifiedMatching -OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:KANK4 semapv:UnspecifiedMatching -OMIM:614612 KANK4 skos:exactMatch ncbigene:163782 semapv:UnspecifiedMatching -OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:29077 semapv:UnspecifiedMatching -OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:IFT140 semapv:UnspecifiedMatching -OMIM:614620 IFT140 skos:exactMatch ncbigene:9742 semapv:UnspecifiedMatching -OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:21721 semapv:UnspecifiedMatching -OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:MALSU1 semapv:UnspecifiedMatching -OMIM:614624 MALSU1 skos:exactMatch ncbigene:115416 semapv:UnspecifiedMatching -OMIM:614625 DANCR skos:exactMatch hgnc.symbol:28964 semapv:UnspecifiedMatching -OMIM:614625 DANCR skos:exactMatch hgnc.symbol:DANCR semapv:UnspecifiedMatching -OMIM:614625 DANCR skos:exactMatch ncbigene:57291 semapv:UnspecifiedMatching -OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:32616 semapv:UnspecifiedMatching -OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:SNORA26 semapv:UnspecifiedMatching -OMIM:614626 SNORA26 skos:exactMatch ncbigene:677810 semapv:UnspecifiedMatching -OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:41864 semapv:UnspecifiedMatching -OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:MIR4449 semapv:UnspecifiedMatching -OMIM:614627 MIR4449 skos:exactMatch ncbigene:100616436 semapv:UnspecifiedMatching -OMIM:614630 ADGB skos:exactMatch hgnc.symbol:21212 semapv:UnspecifiedMatching -OMIM:614630 ADGB skos:exactMatch hgnc.symbol:ADGB semapv:UnspecifiedMatching -OMIM:614630 ADGB skos:exactMatch ncbigene:79747 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch UMLS:C2829592 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:37276 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:CRPPA semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch ncbigene:729920 semapv:UnspecifiedMatching -OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:29304 semapv:UnspecifiedMatching -OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:UVSSA semapv:UnspecifiedMatching -OMIM:614632 UVSSA skos:exactMatch ncbigene:57654 semapv:UnspecifiedMatching -OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:18652 semapv:UnspecifiedMatching -OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:VPS54 semapv:UnspecifiedMatching -OMIM:614633 VPS54 skos:exactMatch ncbigene:51542 semapv:UnspecifiedMatching -OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:29264 semapv:UnspecifiedMatching -OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:CEP126 semapv:UnspecifiedMatching -OMIM:614634 CEP126 skos:exactMatch ncbigene:57562 semapv:UnspecifiedMatching -OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:43655 semapv:UnspecifiedMatching -OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:LINC00538 semapv:UnspecifiedMatching -OMIM:614635 LINC00538 skos:exactMatch ncbigene:100861504 semapv:UnspecifiedMatching -OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:13879 semapv:UnspecifiedMatching -OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:MYO1H semapv:UnspecifiedMatching -OMIM:614636 MYO1H skos:exactMatch ncbigene:283446 semapv:UnspecifiedMatching -OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:24577 semapv:UnspecifiedMatching -OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:DESI1 semapv:UnspecifiedMatching -OMIM:614637 DESI1 skos:exactMatch ncbigene:27351 semapv:UnspecifiedMatching -OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:24264 semapv:UnspecifiedMatching -OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:DESI2 semapv:UnspecifiedMatching -OMIM:614638 DESI2 skos:exactMatch ncbigene:51029 semapv:UnspecifiedMatching -OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:16094 semapv:UnspecifiedMatching -OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:ZBTB46 semapv:UnspecifiedMatching -OMIM:614639 ZBTB46 skos:exactMatch ncbigene:140685 semapv:UnspecifiedMatching -OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:16097 semapv:UnspecifiedMatching -OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:LAMP5 semapv:UnspecifiedMatching -OMIM:614641 LAMP5 skos:exactMatch ncbigene:24141 semapv:UnspecifiedMatching -OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:19162 semapv:UnspecifiedMatching -OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:STARD9 semapv:UnspecifiedMatching -OMIM:614642 STARD9 skos:exactMatch ncbigene:57519 semapv:UnspecifiedMatching -OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching -OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching -OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:20233 semapv:UnspecifiedMatching -OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:COQ6 semapv:UnspecifiedMatching -OMIM:614647 COQ6 skos:exactMatch ncbigene:51004 semapv:UnspecifiedMatching -OMIM:614648 RALYL skos:exactMatch hgnc.symbol:27036 semapv:UnspecifiedMatching -OMIM:614648 RALYL skos:exactMatch hgnc.symbol:RALYL semapv:UnspecifiedMatching -OMIM:614648 RALYL skos:exactMatch ncbigene:138046 semapv:UnspecifiedMatching -OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:25358 semapv:UnspecifiedMatching -OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:RNF170 semapv:UnspecifiedMatching -OMIM:614649 RNF170 skos:exactMatch ncbigene:81790 semapv:UnspecifiedMatching -OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching -OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch UMLS:C3553349 semapv:UnspecifiedMatching -OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:23530 semapv:UnspecifiedMatching -OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:PALD1 semapv:UnspecifiedMatching -OMIM:614656 PALD1 skos:exactMatch ncbigene:27143 semapv:UnspecifiedMatching -OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:17811 semapv:UnspecifiedMatching -OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:AMOTL1 semapv:UnspecifiedMatching -OMIM:614657 AMOTL1 skos:exactMatch ncbigene:154810 semapv:UnspecifiedMatching -OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:17812 semapv:UnspecifiedMatching -OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:AMOTL2 semapv:UnspecifiedMatching -OMIM:614658 AMOTL2 skos:exactMatch ncbigene:51421 semapv:UnspecifiedMatching -OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:26360 semapv:UnspecifiedMatching -OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:AMER2 semapv:UnspecifiedMatching -OMIM:614659 AMER2 skos:exactMatch ncbigene:219287 semapv:UnspecifiedMatching -OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:26721 semapv:UnspecifiedMatching -OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:PATL1 semapv:UnspecifiedMatching -OMIM:614660 PATL1 skos:exactMatch ncbigene:219988 semapv:UnspecifiedMatching -OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:33630 semapv:UnspecifiedMatching -OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:PATL2 semapv:UnspecifiedMatching -OMIM:614661 PATL2 skos:exactMatch ncbigene:197135 semapv:UnspecifiedMatching -OMIM:614663 RALY skos:exactMatch UMLS:C1423833 semapv:UnspecifiedMatching -OMIM:614663 RALY skos:exactMatch hgnc.symbol:15921 semapv:UnspecifiedMatching -OMIM:614663 RALY skos:exactMatch hgnc.symbol:RALY semapv:UnspecifiedMatching -OMIM:614663 RALY skos:exactMatch ncbigene:22913 semapv:UnspecifiedMatching -OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:30807 semapv:UnspecifiedMatching -OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:TREML4 semapv:UnspecifiedMatching -OMIM:614664 TREML4 skos:exactMatch ncbigene:285852 semapv:UnspecifiedMatching -OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:14153 semapv:UnspecifiedMatching -OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:CCDC78 semapv:UnspecifiedMatching -OMIM:614666 CCDC78 skos:exactMatch ncbigene:124093 semapv:UnspecifiedMatching -OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:19261 semapv:UnspecifiedMatching -OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:MTO1 semapv:UnspecifiedMatching -OMIM:614667 MTO1 skos:exactMatch ncbigene:25821 semapv:UnspecifiedMatching -OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching -OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553407 semapv:UnspecifiedMatching -OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553408 semapv:UnspecifiedMatching -OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching -OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch UMLS:C3808553 semapv:UnspecifiedMatching -OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:32700 semapv:UnspecifiedMatching -OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:CCDC103 semapv:UnspecifiedMatching -OMIM:614677 CCDC103 skos:exactMatch ncbigene:388389 semapv:UnspecifiedMatching -OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:34403 semapv:UnspecifiedMatching -OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:HYKK semapv:UnspecifiedMatching -OMIM:614681 AGPHD1 skos:exactMatch ncbigene:123688 semapv:UnspecifiedMatching -OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:14404 semapv:UnspecifiedMatching -OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:ETNPPL semapv:UnspecifiedMatching -OMIM:614682 AGXT2L1 skos:exactMatch ncbigene:64850 semapv:UnspecifiedMatching -OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:28249 semapv:UnspecifiedMatching -OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:PHYKPL semapv:UnspecifiedMatching -OMIM:614683 PHYKPL skos:exactMatch ncbigene:85007 semapv:UnspecifiedMatching -OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:26573 semapv:UnspecifiedMatching -OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:ZNF597 semapv:UnspecifiedMatching -OMIM:614685 ZNF597 skos:exactMatch ncbigene:146434 semapv:UnspecifiedMatching -OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:18789 semapv:UnspecifiedMatching -OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:FAM50B semapv:UnspecifiedMatching -OMIM:614686 FAM50B skos:exactMatch ncbigene:26240 semapv:UnspecifiedMatching -OMIM:614690 C4ORF48 skos:exactMatch hgnc.symbol:NICOL1 semapv:UnspecifiedMatching -OMIM:614690 C4ORF48 skos:exactMatch ncbigene:401115 semapv:UnspecifiedMatching -OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:29034 semapv:UnspecifiedMatching -OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:ATMIN semapv:UnspecifiedMatching -OMIM:614693 ATMIN skos:exactMatch ncbigene:23300 semapv:UnspecifiedMatching -OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:16209 semapv:UnspecifiedMatching -OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:RPRD1B semapv:UnspecifiedMatching -OMIM:614694 RPRD1B skos:exactMatch ncbigene:58490 semapv:UnspecifiedMatching -OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:29039 semapv:UnspecifiedMatching -OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:RPRD2 semapv:UnspecifiedMatching -OMIM:614695 RPRD2 skos:exactMatch ncbigene:23248 semapv:UnspecifiedMatching -OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:25387 semapv:UnspecifiedMatching -OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:KATNAL2 semapv:UnspecifiedMatching -OMIM:614697 KATNAL2 skos:exactMatch ncbigene:83473 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch UMLS:C3469918 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch hgnc.symbol:26970 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch hgnc.symbol:COX20 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch ncbigene:116228 semapv:UnspecifiedMatching -OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching -OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching -OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch Orphanet:314637 semapv:UnspecifiedMatching -OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch UMLS:C3553529 semapv:UnspecifiedMatching -OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:35237 semapv:UnspecifiedMatching -OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:SRGAP2B semapv:UnspecifiedMatching -OMIM:614703 SRGAP2B skos:exactMatch ncbigene:647135 semapv:UnspecifiedMatching -OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:30584 semapv:UnspecifiedMatching -OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:SRGAP2C semapv:UnspecifiedMatching -OMIM:614704 SRGAP2C skos:exactMatch ncbigene:653464 semapv:UnspecifiedMatching -OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:43932 semapv:UnspecifiedMatching -OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:SRGAP2D semapv:UnspecifiedMatching -OMIM:614705 SRGAP2D skos:exactMatch ncbigene:100996712 semapv:UnspecifiedMatching -OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:572550 semapv:UnspecifiedMatching -OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching -OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching -OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:13655 semapv:UnspecifiedMatching -OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:SCUBE3 semapv:UnspecifiedMatching -OMIM:614708 SCUBE3 skos:exactMatch ncbigene:222663 semapv:UnspecifiedMatching -OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:25074 semapv:UnspecifiedMatching -OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:LYRM1 semapv:UnspecifiedMatching -OMIM:614709 LYRM1 skos:exactMatch ncbigene:57149 semapv:UnspecifiedMatching -OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:24044 semapv:UnspecifiedMatching -OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:FAM72A semapv:UnspecifiedMatching -OMIM:614710 FAM72A skos:exactMatch ncbigene:729533 semapv:UnspecifiedMatching -OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:24805 semapv:UnspecifiedMatching -OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:FAM72B semapv:UnspecifiedMatching -OMIM:614711 FAM72B skos:exactMatch ncbigene:653820 semapv:UnspecifiedMatching -OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:33593 semapv:UnspecifiedMatching -OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:FAM72D semapv:UnspecifiedMatching -OMIM:614712 FAM72D skos:exactMatch ncbigene:728833 semapv:UnspecifiedMatching -OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:33984 semapv:UnspecifiedMatching -OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:RASSF10 semapv:UnspecifiedMatching -OMIM:614713 RASSF10 skos:exactMatch ncbigene:644943 semapv:UnspecifiedMatching -OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:28324 semapv:UnspecifiedMatching -OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:TMIGD2 semapv:UnspecifiedMatching -OMIM:614715 TMIGD2 skos:exactMatch ncbigene:126259 semapv:UnspecifiedMatching -OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:20272 semapv:UnspecifiedMatching -OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:CARMIL3 semapv:UnspecifiedMatching -OMIM:614716 CARMIL3 skos:exactMatch ncbigene:90668 semapv:UnspecifiedMatching -OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:24531 semapv:UnspecifiedMatching -OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:ANAPC15 semapv:UnspecifiedMatching -OMIM:614717 ANAPC15 skos:exactMatch ncbigene:25906 semapv:UnspecifiedMatching -OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:30767 semapv:UnspecifiedMatching -OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:KNSTRN semapv:UnspecifiedMatching -OMIM:614718 KNSTRN skos:exactMatch ncbigene:90417 semapv:UnspecifiedMatching -OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:20589 semapv:UnspecifiedMatching -OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:KCMF1 semapv:UnspecifiedMatching -OMIM:614719 KCMF1 skos:exactMatch ncbigene:56888 semapv:UnspecifiedMatching -OMIM:614720 CDK19 skos:exactMatch UMLS:C1540298 semapv:UnspecifiedMatching -OMIM:614720 CDK19 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching -OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:19338 semapv:UnspecifiedMatching -OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:CDK19 semapv:UnspecifiedMatching -OMIM:614720 CDK19 skos:exactMatch ncbigene:23097 semapv:UnspecifiedMatching -OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:29367 semapv:UnspecifiedMatching -OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:TSPYL5 semapv:UnspecifiedMatching -OMIM:614721 TSPYL5 skos:exactMatch ncbigene:85453 semapv:UnspecifiedMatching -OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:38295 semapv:UnspecifiedMatching -OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:MIR3120 semapv:UnspecifiedMatching -OMIM:614722 MIR3120 skos:exactMatch ncbigene:100422882 semapv:UnspecifiedMatching -OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:25815 semapv:UnspecifiedMatching -OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:CEP63 semapv:UnspecifiedMatching -OMIM:614724 CEP63 skos:exactMatch ncbigene:80254 semapv:UnspecifiedMatching -OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:21061 semapv:UnspecifiedMatching -OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:SERAC1 semapv:UnspecifiedMatching -OMIM:614725 SERAC1 skos:exactMatch ncbigene:84947 semapv:UnspecifiedMatching -OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:30760 semapv:UnspecifiedMatching -OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:TMEM165 semapv:UnspecifiedMatching -OMIM:614726 TMEM165 skos:exactMatch ncbigene:55858 semapv:UnspecifiedMatching -OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:21749 semapv:UnspecifiedMatching -OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:COPS6 semapv:UnspecifiedMatching -OMIM:614729 COPS6 skos:exactMatch ncbigene:10980 semapv:UnspecifiedMatching -OMIM:614730 PIGO skos:exactMatch hgnc.symbol:23215 semapv:UnspecifiedMatching -OMIM:614730 PIGO skos:exactMatch hgnc.symbol:PIGO semapv:UnspecifiedMatching -OMIM:614730 PIGO skos:exactMatch ncbigene:84720 semapv:UnspecifiedMatching -OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:31563 semapv:UnspecifiedMatching -OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:MIR193A semapv:UnspecifiedMatching -OMIM:614733 MIR193A skos:exactMatch ncbigene:406968 semapv:UnspecifiedMatching -OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:32087 semapv:UnspecifiedMatching -OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:MIR193B semapv:UnspecifiedMatching -OMIM:614734 MIR193B skos:exactMatch ncbigene:574455 semapv:UnspecifiedMatching -OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:33692 semapv:UnspecifiedMatching -OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:MIR365A semapv:UnspecifiedMatching -OMIM:614735 MIR365A skos:exactMatch ncbigene:100126355 semapv:UnspecifiedMatching -OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:24515 semapv:UnspecifiedMatching -OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:MPC2 semapv:UnspecifiedMatching -OMIM:614737 MPC2 skos:exactMatch ncbigene:25874 semapv:UnspecifiedMatching -OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:21606 semapv:UnspecifiedMatching -OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:MPC1 semapv:UnspecifiedMatching -OMIM:614738 MPC1 skos:exactMatch ncbigene:51660 semapv:UnspecifiedMatching -OMIM:614753 malan syndrome skos:exactMatch Orphanet:420179 semapv:UnspecifiedMatching -OMIM:614753 malan syndrome skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching -OMIM:614754 DMRT3 skos:exactMatch hgnc.symbol:13909 semapv:UnspecifiedMatching -OMIM:614754 DMRT3 skos:exactMatch hgnc.symbol:DMRT3 semapv:UnspecifiedMatching -OMIM:614754 DMRT3 skos:exactMatch ncbigene:58524 semapv:UnspecifiedMatching -OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:32125 semapv:UnspecifiedMatching -OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:MIR520H semapv:UnspecifiedMatching -OMIM:614755 MIR520H skos:exactMatch ncbigene:574493 semapv:UnspecifiedMatching -OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch Orphanet:314647 semapv:UnspecifiedMatching -OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch UMLS:C3553661 semapv:UnspecifiedMatching -OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:16644 semapv:UnspecifiedMatching -OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:IFITM5 semapv:UnspecifiedMatching -OMIM:614757 IFITM5 skos:exactMatch ncbigene:387733 semapv:UnspecifiedMatching -OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:15518 semapv:UnspecifiedMatching -OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:DCTN4 semapv:UnspecifiedMatching -OMIM:614758 DCTN4 skos:exactMatch ncbigene:51164 semapv:UnspecifiedMatching -OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:26530 semapv:UnspecifiedMatching -OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:CFAP53 semapv:UnspecifiedMatching -OMIM:614759 CFAP53 skos:exactMatch ncbigene:220136 semapv:UnspecifiedMatching -OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:26001 semapv:UnspecifiedMatching -OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:SLC66A1 semapv:UnspecifiedMatching -OMIM:614760 SLC66A1 skos:exactMatch ncbigene:54896 semapv:UnspecifiedMatching -OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:30519 semapv:UnspecifiedMatching -OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:GLYATL1 semapv:UnspecifiedMatching -OMIM:614761 GLYATL1 skos:exactMatch ncbigene:92292 semapv:UnspecifiedMatching -OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:24178 semapv:UnspecifiedMatching -OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:GLYATL2 semapv:UnspecifiedMatching -OMIM:614762 GLYATL2 skos:exactMatch ncbigene:219970 semapv:UnspecifiedMatching -OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:21349 semapv:UnspecifiedMatching -OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:GLYATL3 semapv:UnspecifiedMatching -OMIM:614763 GLYATL3 skos:exactMatch ncbigene:389396 semapv:UnspecifiedMatching -OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:28361 semapv:UnspecifiedMatching -OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:KATNAL1 semapv:UnspecifiedMatching -OMIM:614764 KATNAL1 skos:exactMatch ncbigene:84056 semapv:UnspecifiedMatching -OMIM:614765 STRN skos:exactMatch hgnc.symbol:11424 semapv:UnspecifiedMatching -OMIM:614765 STRN skos:exactMatch hgnc.symbol:STRN semapv:UnspecifiedMatching -OMIM:614765 STRN skos:exactMatch ncbigene:6801 semapv:UnspecifiedMatching -OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:15720 semapv:UnspecifiedMatching -OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:STRN3 semapv:UnspecifiedMatching -OMIM:614766 STRN3 skos:exactMatch ncbigene:29966 semapv:UnspecifiedMatching -OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:15721 semapv:UnspecifiedMatching -OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:STRN4 semapv:UnspecifiedMatching -OMIM:614767 STRN4 skos:exactMatch ncbigene:29888 semapv:UnspecifiedMatching -OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:28789 semapv:UnspecifiedMatching -OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:SARAF semapv:UnspecifiedMatching -OMIM:614768 TMEM66 skos:exactMatch ncbigene:51669 semapv:UnspecifiedMatching -OMIM:614769 COA1 skos:exactMatch UMLS:C1824229 semapv:UnspecifiedMatching -OMIM:614769 COA1 skos:exactMatch hgnc.symbol:21868 semapv:UnspecifiedMatching -OMIM:614769 COA1 skos:exactMatch hgnc.symbol:COA1 semapv:UnspecifiedMatching -OMIM:614769 COA1 skos:exactMatch ncbigene:55744 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch UMLS:C3541664 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch hgnc.symbol:40038 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch hgnc.symbol:PET100 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch ncbigene:100131801 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch UMLS:C3471365 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch hgnc.symbol:40045 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch hgnc.symbol:PET117 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch ncbigene:100303755 semapv:UnspecifiedMatching -OMIM:614772 COA6 skos:exactMatch UMLS:C1425251 semapv:UnspecifiedMatching -OMIM:614772 COA6 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching -OMIM:614772 COA6 skos:exactMatch hgnc.symbol:18025 semapv:UnspecifiedMatching -OMIM:614772 COA6 skos:exactMatch hgnc.symbol:COA6 semapv:UnspecifiedMatching -OMIM:614772 COA6 skos:exactMatch ncbigene:388753 semapv:UnspecifiedMatching -OMIM:614773 MSS51 skos:exactMatch UMLS:C3471123 semapv:UnspecifiedMatching -OMIM:614773 MSS51 skos:exactMatch hgnc.symbol:21000 semapv:UnspecifiedMatching -OMIM:614773 MSS51 skos:exactMatch hgnc.symbol:MSS51 semapv:UnspecifiedMatching -OMIM:614773 MSS51 skos:exactMatch ncbigene:118490 semapv:UnspecifiedMatching -OMIM:614774 PTCD1 skos:exactMatch hgnc.symbol:22198 semapv:UnspecifiedMatching -OMIM:614774 PTCD1 skos:exactMatch hgnc.symbol:PTCD1 semapv:UnspecifiedMatching -OMIM:614774 PTCD1 skos:exactMatch ncbigene:26024 semapv:UnspecifiedMatching -OMIM:614775 COA3 skos:exactMatch UMLS:C1824580 semapv:UnspecifiedMatching -OMIM:614775 COA3 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching -OMIM:614775 COA3 skos:exactMatch hgnc.symbol:24990 semapv:UnspecifiedMatching -OMIM:614775 COA3 skos:exactMatch hgnc.symbol:COA3 semapv:UnspecifiedMatching -OMIM:614775 COA3 skos:exactMatch ncbigene:28958 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch UMLS:C2828701 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch UMLS:C4748455 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:29165 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:SIK3 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch ncbigene:23387 semapv:UnspecifiedMatching -OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:13824 semapv:UnspecifiedMatching -OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:MMS19 semapv:UnspecifiedMatching -OMIM:614777 MMS19 skos:exactMatch ncbigene:64210 semapv:UnspecifiedMatching -OMIM:614778 CIAO2B skos:exactMatch hgnc.symbol:24261 semapv:UnspecifiedMatching -OMIM:614778 CIAO2B skos:exactMatch hgnc.symbol:CIAO2B semapv:UnspecifiedMatching -OMIM:614778 CIAO2B skos:exactMatch ncbigene:51647 semapv:UnspecifiedMatching -OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:14974 semapv:UnspecifiedMatching -OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:SNX10 semapv:UnspecifiedMatching -OMIM:614780 SNX10 skos:exactMatch ncbigene:29887 semapv:UnspecifiedMatching -OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:22214 semapv:UnspecifiedMatching -OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:TECPR1 semapv:UnspecifiedMatching -OMIM:614781 TECPR1 skos:exactMatch ncbigene:25851 semapv:UnspecifiedMatching -OMIM:614783 POC1A skos:exactMatch hgnc.symbol:24488 semapv:UnspecifiedMatching -OMIM:614783 POC1A skos:exactMatch hgnc.symbol:POC1A semapv:UnspecifiedMatching -OMIM:614783 POC1A skos:exactMatch ncbigene:25886 semapv:UnspecifiedMatching -OMIM:614784 POC1B skos:exactMatch hgnc.symbol:30836 semapv:UnspecifiedMatching -OMIM:614784 POC1B skos:exactMatch hgnc.symbol:POC1B semapv:UnspecifiedMatching -OMIM:614784 POC1B skos:exactMatch ncbigene:282809 semapv:UnspecifiedMatching -OMIM:614785 MFF skos:exactMatch hgnc.symbol:24858 semapv:UnspecifiedMatching -OMIM:614785 MFF skos:exactMatch hgnc.symbol:MFF semapv:UnspecifiedMatching -OMIM:614785 MFF skos:exactMatch ncbigene:56947 semapv:UnspecifiedMatching -OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:33705 semapv:UnspecifiedMatching -OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:TMEM207 semapv:UnspecifiedMatching -OMIM:614786 TMEM207 skos:exactMatch ncbigene:131920 semapv:UnspecifiedMatching -OMIM:614787 POGZ skos:exactMatch hgnc.symbol:18801 semapv:UnspecifiedMatching -OMIM:614787 POGZ skos:exactMatch hgnc.symbol:POGZ semapv:UnspecifiedMatching -OMIM:614787 POGZ skos:exactMatch ncbigene:23126 semapv:UnspecifiedMatching -OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:19117 semapv:UnspecifiedMatching -OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:FGD5 semapv:UnspecifiedMatching -OMIM:614788 FGD5 skos:exactMatch ncbigene:152273 semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch UMLS:C1824159 semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch hgnc.symbol:28526 semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch hgnc.symbol:EOGT semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch ncbigene:285203 semapv:UnspecifiedMatching -OMIM:614790 WTIP skos:exactMatch hgnc.symbol:20964 semapv:UnspecifiedMatching -OMIM:614790 WTIP skos:exactMatch hgnc.symbol:WTIP semapv:UnspecifiedMatching -OMIM:614790 WTIP skos:exactMatch ncbigene:126374 semapv:UnspecifiedMatching -OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:31573 semapv:UnspecifiedMatching -OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:MIR199B semapv:UnspecifiedMatching -OMIM:614791 MIR199B skos:exactMatch ncbigene:406978 semapv:UnspecifiedMatching -OMIM:614792 TMUB1 skos:exactMatch hgnc.symbol:21709 semapv:UnspecifiedMatching -OMIM:614792 TMUB1 skos:exactMatch hgnc.symbol:TMUB1 semapv:UnspecifiedMatching -OMIM:614792 TMUB1 skos:exactMatch ncbigene:83590 semapv:UnspecifiedMatching -OMIM:614793 MAP3K21 skos:exactMatch hgnc.symbol:29798 semapv:UnspecifiedMatching -OMIM:614793 MAP3K21 skos:exactMatch hgnc.symbol:MAP3K21 semapv:UnspecifiedMatching -OMIM:614793 MAP3K21 skos:exactMatch ncbigene:84451 semapv:UnspecifiedMatching -OMIM:614794 AGPAT3 skos:exactMatch hgnc.symbol:326 semapv:UnspecifiedMatching -OMIM:614794 AGPAT3 skos:exactMatch hgnc.symbol:AGPAT3 semapv:UnspecifiedMatching -OMIM:614794 AGPAT3 skos:exactMatch ncbigene:56894 semapv:UnspecifiedMatching -OMIM:614795 AGPAT4 skos:exactMatch hgnc.symbol:20885 semapv:UnspecifiedMatching -OMIM:614795 AGPAT4 skos:exactMatch hgnc.symbol:AGPAT4 semapv:UnspecifiedMatching -OMIM:614795 AGPAT4 skos:exactMatch ncbigene:56895 semapv:UnspecifiedMatching -OMIM:614796 AGPAT5 skos:exactMatch hgnc.symbol:20886 semapv:UnspecifiedMatching -OMIM:614796 AGPAT5 skos:exactMatch hgnc.symbol:AGPAT5 semapv:UnspecifiedMatching -OMIM:614796 AGPAT5 skos:exactMatch ncbigene:55326 semapv:UnspecifiedMatching -OMIM:614797 PELI1 skos:exactMatch UMLS:C1418453 semapv:UnspecifiedMatching -OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:8827 semapv:UnspecifiedMatching -OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:PELI1 semapv:UnspecifiedMatching -OMIM:614797 PELI1 skos:exactMatch ncbigene:57162 semapv:UnspecifiedMatching -OMIM:614798 PELI2 skos:exactMatch UMLS:C1418454 semapv:UnspecifiedMatching -OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:8828 semapv:UnspecifiedMatching -OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:PELI2 semapv:UnspecifiedMatching -OMIM:614798 PELI2 skos:exactMatch ncbigene:57161 semapv:UnspecifiedMatching -OMIM:614799 AIRIM skos:exactMatch hgnc.symbol:AIRIM semapv:UnspecifiedMatching -OMIM:614799 AIRIM skos:exactMatch ncbigene:54955 semapv:UnspecifiedMatching -OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:27905 semapv:UnspecifiedMatching -OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:MSL1 semapv:UnspecifiedMatching -OMIM:614801 MSL1 skos:exactMatch ncbigene:339287 semapv:UnspecifiedMatching -OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:25544 semapv:UnspecifiedMatching -OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:MSL2 semapv:UnspecifiedMatching -OMIM:614802 MSL2 skos:exactMatch ncbigene:55167 semapv:UnspecifiedMatching -OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:13826 semapv:UnspecifiedMatching -OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:DMRTA1 semapv:UnspecifiedMatching -OMIM:614803 DMRTA1 skos:exactMatch ncbigene:63951 semapv:UnspecifiedMatching -OMIM:614804 DMRTA2 skos:exactMatch UMLS:C1422262 semapv:UnspecifiedMatching -OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:13908 semapv:UnspecifiedMatching -OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:DMRTA2 semapv:UnspecifiedMatching -OMIM:614804 DMRTA2 skos:exactMatch ncbigene:63950 semapv:UnspecifiedMatching -OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:13913 semapv:UnspecifiedMatching -OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:DMRTB1 semapv:UnspecifiedMatching -OMIM:614805 DMRTB1 skos:exactMatch ncbigene:63948 semapv:UnspecifiedMatching -OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:13911 semapv:UnspecifiedMatching -OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:DMRTC2 semapv:UnspecifiedMatching -OMIM:614806 DMRTC2 skos:exactMatch ncbigene:63946 semapv:UnspecifiedMatching -OMIM:614810 multiple sclerosis, susceptibility to, 5 skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching -OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:20488 semapv:UnspecifiedMatching -OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:L3HYPDH semapv:UnspecifiedMatching -OMIM:614811 L3HYPDH skos:exactMatch ncbigene:112849 semapv:UnspecifiedMatching -OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:29990 semapv:UnspecifiedMatching -OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:NUPR1 semapv:UnspecifiedMatching -OMIM:614812 NUPR1 skos:exactMatch ncbigene:26471 semapv:UnspecifiedMatching -OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch Orphanet:401996 semapv:UnspecifiedMatching -OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch UMLS:C3553774 semapv:UnspecifiedMatching -OMIM:614818 FRY skos:exactMatch UMLS:C1825319 semapv:UnspecifiedMatching -OMIM:614818 FRY skos:exactMatch hgnc.symbol:20367 semapv:UnspecifiedMatching -OMIM:614818 FRY skos:exactMatch hgnc.symbol:FRY semapv:UnspecifiedMatching -OMIM:614818 FRY skos:exactMatch ncbigene:10129 semapv:UnspecifiedMatching -OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:43959 semapv:UnspecifiedMatching -OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:PTCSC3 semapv:UnspecifiedMatching -OMIM:614821 PTCSC3 skos:exactMatch ncbigene:100886964 semapv:UnspecifiedMatching -OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:15875 semapv:UnspecifiedMatching -OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:AP5S1 semapv:UnspecifiedMatching -OMIM:614824 AP5S1 skos:exactMatch ncbigene:55317 semapv:UnspecifiedMatching -OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:15578 semapv:UnspecifiedMatching -OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:REPS1 semapv:UnspecifiedMatching -OMIM:614825 REPS1 skos:exactMatch ncbigene:85021 semapv:UnspecifiedMatching -OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:25570 semapv:UnspecifiedMatching -OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:DNAJC11 semapv:UnspecifiedMatching -OMIM:614827 DNAJC11 skos:exactMatch ncbigene:55735 semapv:UnspecifiedMatching -OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:25902 semapv:UnspecifiedMatching -OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:POMGNT2 semapv:UnspecifiedMatching -OMIM:614828 POMGNT2 skos:exactMatch ncbigene:84892 semapv:UnspecifiedMatching -OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:26300 semapv:UnspecifiedMatching -OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:ODAPH semapv:UnspecifiedMatching -OMIM:614829 ODAPH skos:exactMatch ncbigene:152816 semapv:UnspecifiedMatching -OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:324262 semapv:UnspecifiedMatching -OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching -OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching -OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:17780 semapv:UnspecifiedMatching -OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:ACTBL2 semapv:UnspecifiedMatching -OMIM:614835 ACTBL2 skos:exactMatch ncbigene:345651 semapv:UnspecifiedMatching -OMIM:614843 ODAM skos:exactMatch hgnc.symbol:26043 semapv:UnspecifiedMatching -OMIM:614843 ODAM skos:exactMatch hgnc.symbol:ODAM semapv:UnspecifiedMatching -OMIM:614843 ODAM skos:exactMatch ncbigene:54959 semapv:UnspecifiedMatching -OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:29182 semapv:UnspecifiedMatching -OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:CEP164 semapv:UnspecifiedMatching -OMIM:614848 CEP164 skos:exactMatch ncbigene:22897 semapv:UnspecifiedMatching -OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:17177 semapv:UnspecifiedMatching -OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:CRLF3 semapv:UnspecifiedMatching -OMIM:614853 CRLF3 skos:exactMatch ncbigene:51379 semapv:UnspecifiedMatching -OMIM:614854 LRRC59 skos:exactMatch UMLS:C1825904 semapv:UnspecifiedMatching -OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:28817 semapv:UnspecifiedMatching -OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:LRRC59 semapv:UnspecifiedMatching -OMIM:614854 LRRC59 skos:exactMatch ncbigene:55379 semapv:UnspecifiedMatching -OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:29246 semapv:UnspecifiedMatching -OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:TBC1D14 semapv:UnspecifiedMatching -OMIM:614855 TBC1D14 skos:exactMatch ncbigene:57533 semapv:UnspecifiedMatching -OMIM:614860 dystonia 23 skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching -OMIM:614860 dystonia 23 skos:exactMatch UMLS:C3538999 semapv:UnspecifiedMatching -OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:26013 semapv:UnspecifiedMatching -OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:DNAAF5 semapv:UnspecifiedMatching -OMIM:614864 DNAAF5 skos:exactMatch ncbigene:54919 semapv:UnspecifiedMatching -OMIM:614865 DBET skos:exactMatch hgnc.symbol:43904 semapv:UnspecifiedMatching -OMIM:614865 DBET skos:exactMatch hgnc.symbol:DBET semapv:UnspecifiedMatching -OMIM:614865 DBET skos:exactMatch ncbigene:100419743 semapv:UnspecifiedMatching -OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch Orphanet:324530 semapv:UnspecifiedMatching -OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching -OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:28385 semapv:UnspecifiedMatching -OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:VWA3B semapv:UnspecifiedMatching -OMIM:614884 VWA3B skos:exactMatch ncbigene:200403 semapv:UnspecifiedMatching -OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:25662 semapv:UnspecifiedMatching -OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:AAGAB semapv:UnspecifiedMatching -OMIM:614888 AAGAB skos:exactMatch ncbigene:79719 semapv:UnspecifiedMatching -OMIM:614889 immunodeficiency 28 skos:exactMatch Orphanet:319547 semapv:UnspecifiedMatching -OMIM:614889 immunodeficiency 28 skos:exactMatch Orphanet:319574 semapv:UnspecifiedMatching -OMIM:614889 immunodeficiency 28 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching -OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch Orphanet:99952 semapv:UnspecifiedMatching -OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch UMLS:C3540453 semapv:UnspecifiedMatching -OMIM:614901 BCKDK skos:exactMatch hgnc.symbol:16902 semapv:UnspecifiedMatching -OMIM:614901 BCKDK skos:exactMatch hgnc.symbol:BCKDK semapv:UnspecifiedMatching -OMIM:614901 BCKDK skos:exactMatch ncbigene:10295 semapv:UnspecifiedMatching -OMIM:614902 ARHGAP33 skos:exactMatch hgnc.symbol:23085 semapv:UnspecifiedMatching -OMIM:614902 ARHGAP33 skos:exactMatch hgnc.symbol:ARHGAP33 semapv:UnspecifiedMatching -OMIM:614902 ARHGAP33 skos:exactMatch ncbigene:115703 semapv:UnspecifiedMatching -OMIM:614903 SNX16 skos:exactMatch hgnc.symbol:14980 semapv:UnspecifiedMatching -OMIM:614903 SNX16 skos:exactMatch hgnc.symbol:SNX16 semapv:UnspecifiedMatching -OMIM:614903 SNX16 skos:exactMatch ncbigene:64089 semapv:UnspecifiedMatching -OMIM:614904 SNX7 skos:exactMatch hgnc.symbol:14971 semapv:UnspecifiedMatching -OMIM:614904 SNX7 skos:exactMatch hgnc.symbol:SNX7 semapv:UnspecifiedMatching -OMIM:614904 SNX7 skos:exactMatch ncbigene:51375 semapv:UnspecifiedMatching -OMIM:614905 SNX8 skos:exactMatch hgnc.symbol:14972 semapv:UnspecifiedMatching -OMIM:614905 SNX8 skos:exactMatch hgnc.symbol:SNX8 semapv:UnspecifiedMatching -OMIM:614905 SNX8 skos:exactMatch ncbigene:29886 semapv:UnspecifiedMatching -OMIM:614906 SNX11 skos:exactMatch hgnc.symbol:14975 semapv:UnspecifiedMatching -OMIM:614906 SNX11 skos:exactMatch hgnc.symbol:SNX11 semapv:UnspecifiedMatching -OMIM:614906 SNX11 skos:exactMatch ncbigene:29916 semapv:UnspecifiedMatching -OMIM:614907 PRPF39 skos:exactMatch hgnc.symbol:20314 semapv:UnspecifiedMatching -OMIM:614907 PRPF39 skos:exactMatch hgnc.symbol:PRPF39 semapv:UnspecifiedMatching -OMIM:614907 PRPF39 skos:exactMatch ncbigene:55015 semapv:UnspecifiedMatching -OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:26938 semapv:UnspecifiedMatching -OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:HIKESHI semapv:UnspecifiedMatching -OMIM:614908 HIKESHI skos:exactMatch ncbigene:51501 semapv:UnspecifiedMatching -OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:28187 semapv:UnspecifiedMatching -OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:TMEM174 semapv:UnspecifiedMatching -OMIM:614909 TMEM174 skos:exactMatch ncbigene:134288 semapv:UnspecifiedMatching -OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:14343 semapv:UnspecifiedMatching -OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:C1QTNF6 semapv:UnspecifiedMatching -OMIM:614910 C1QTNF6 skos:exactMatch ncbigene:114904 semapv:UnspecifiedMatching -OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:14346 semapv:UnspecifiedMatching -OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:C1QTNF4 semapv:UnspecifiedMatching -OMIM:614911 C1QTNF4 skos:exactMatch ncbigene:114900 semapv:UnspecifiedMatching -OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:27013 semapv:UnspecifiedMatching -OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:TRABD2A semapv:UnspecifiedMatching -OMIM:614912 TRABD2A skos:exactMatch ncbigene:129293 semapv:UnspecifiedMatching -OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:44200 semapv:UnspecifiedMatching -OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:TRABD2B semapv:UnspecifiedMatching -OMIM:614913 TRABD2B skos:exactMatch ncbigene:388630 semapv:UnspecifiedMatching -OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:33634 semapv:UnspecifiedMatching -OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:MIR298 semapv:UnspecifiedMatching -OMIM:614914 MIR298 skos:exactMatch ncbigene:100126296 semapv:UnspecifiedMatching -OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:21176 semapv:UnspecifiedMatching -OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:RMND1 semapv:UnspecifiedMatching -OMIM:614917 RMND1 skos:exactMatch ncbigene:55005 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch UMLS:C1826731 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:24717 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:PTCD3 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch ncbigene:55037 semapv:UnspecifiedMatching -OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:28473 semapv:UnspecifiedMatching -OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:NOA1 semapv:UnspecifiedMatching -OMIM:614919 NOA1 skos:exactMatch ncbigene:84273 semapv:UnspecifiedMatching -OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch Orphanet:44 semapv:UnspecifiedMatching -OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch Orphanet:772 semapv:UnspecifiedMatching -OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching -OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch Orphanet:319646 semapv:UnspecifiedMatching -OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch UMLS:C2752015 semapv:UnspecifiedMatching -OMIM:614925 OTOGL skos:exactMatch hgnc.symbol:26901 semapv:UnspecifiedMatching -OMIM:614925 OTOGL skos:exactMatch hgnc.symbol:OTOGL semapv:UnspecifiedMatching -OMIM:614925 OTOGL skos:exactMatch ncbigene:283310 semapv:UnspecifiedMatching -OMIM:614926 perrault syndrome 2 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching -OMIM:614926 perrault syndrome 2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching -OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:16725 semapv:UnspecifiedMatching -OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:DNAAF11 semapv:UnspecifiedMatching -OMIM:614930 LRRC6 skos:exactMatch ncbigene:23639 semapv:UnspecifiedMatching -OMIM:614933 LINCMD1 skos:exactMatch hgnc.symbol:49089 semapv:UnspecifiedMatching -OMIM:614933 LINCMD1 skos:exactMatch hgnc.symbol:LINCMD1 semapv:UnspecifiedMatching -OMIM:614933 LINCMD1 skos:exactMatch ncbigene:101154644 semapv:UnspecifiedMatching -OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:37054 semapv:UnspecifiedMatching -OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:VTRNA2-1 semapv:UnspecifiedMatching -OMIM:614938 VTRNA2-1 skos:exactMatch ncbigene:100126299 semapv:UnspecifiedMatching -OMIM:614939 PGAM5 skos:exactMatch hgnc.symbol:28763 semapv:UnspecifiedMatching -OMIM:614939 PGAM5 skos:exactMatch hgnc.symbol:PGAM5 semapv:UnspecifiedMatching -OMIM:614939 PGAM5 skos:exactMatch ncbigene:192111 semapv:UnspecifiedMatching -OMIM:614942 PGS1 skos:exactMatch hgnc.symbol:30029 semapv:UnspecifiedMatching -OMIM:614942 PGS1 skos:exactMatch hgnc.symbol:PGS1 semapv:UnspecifiedMatching -OMIM:614942 PGS1 skos:exactMatch ncbigene:9489 semapv:UnspecifiedMatching -OMIM:614943 TRIAP1 skos:exactMatch hgnc.symbol:26937 semapv:UnspecifiedMatching -OMIM:614943 TRIAP1 skos:exactMatch hgnc.symbol:TRIAP1 semapv:UnspecifiedMatching -OMIM:614943 TRIAP1 skos:exactMatch ncbigene:51499 semapv:UnspecifiedMatching -OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:25187 semapv:UnspecifiedMatching -OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:TAMM41 semapv:UnspecifiedMatching -OMIM:614948 TAMM41 skos:exactMatch ncbigene:132001 semapv:UnspecifiedMatching -OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:37234 semapv:UnspecifiedMatching -OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:TMEM231 semapv:UnspecifiedMatching -OMIM:614949 TMEM231 skos:exactMatch ncbigene:79583 semapv:UnspecifiedMatching -OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:26623 semapv:UnspecifiedMatching -OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:TMEM17 semapv:UnspecifiedMatching -OMIM:614950 TMEM17 skos:exactMatch ncbigene:200728 semapv:UnspecifiedMatching -OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:26087 semapv:UnspecifiedMatching -OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:HEATR3 semapv:UnspecifiedMatching -OMIM:614951 HEATR3 skos:exactMatch ncbigene:55027 semapv:UnspecifiedMatching -OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:28286 semapv:UnspecifiedMatching -OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:SLFN5 semapv:UnspecifiedMatching -OMIM:614952 SLFN5 skos:exactMatch ncbigene:162394 semapv:UnspecifiedMatching -OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:26633 semapv:UnspecifiedMatching -OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:SLFN11 semapv:UnspecifiedMatching -OMIM:614953 SLFN11 skos:exactMatch ncbigene:91607 semapv:UnspecifiedMatching -OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:25500 semapv:UnspecifiedMatching -OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:SLFN12 semapv:UnspecifiedMatching -OMIM:614955 SLFN12 skos:exactMatch ncbigene:55106 semapv:UnspecifiedMatching -OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:33920 semapv:UnspecifiedMatching -OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:SLFN12L semapv:UnspecifiedMatching -OMIM:614956 SLFN12L skos:exactMatch ncbigene:100506736 semapv:UnspecifiedMatching -OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:26481 semapv:UnspecifiedMatching -OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:SLFN13 semapv:UnspecifiedMatching -OMIM:614957 SLFN13 skos:exactMatch ncbigene:146857 semapv:UnspecifiedMatching -OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:32689 semapv:UnspecifiedMatching -OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:SLFN14 semapv:UnspecifiedMatching -OMIM:614958 SLFN14 skos:exactMatch ncbigene:342618 semapv:UnspecifiedMatching -OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching -OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching -OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:30447 semapv:UnspecifiedMatching -OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:PLD6 semapv:UnspecifiedMatching -OMIM:614960 PLD6 skos:exactMatch ncbigene:201164 semapv:UnspecifiedMatching -OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:33154 semapv:UnspecifiedMatching -OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:ELFN1 semapv:UnspecifiedMatching -OMIM:614964 ELFN1 skos:exactMatch ncbigene:392617 semapv:UnspecifiedMatching -OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:22192 semapv:UnspecifiedMatching -OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:SCRN1 semapv:UnspecifiedMatching -OMIM:614965 SCRN1 skos:exactMatch ncbigene:9805 semapv:UnspecifiedMatching -OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:30381 semapv:UnspecifiedMatching -OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:SCRN2 semapv:UnspecifiedMatching -OMIM:614966 SCRN2 skos:exactMatch ncbigene:90507 semapv:UnspecifiedMatching -OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:30382 semapv:UnspecifiedMatching -OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:SCRN3 semapv:UnspecifiedMatching -OMIM:614967 SCRN3 skos:exactMatch ncbigene:79634 semapv:UnspecifiedMatching -OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:26102 semapv:UnspecifiedMatching -OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:SH2D4A semapv:UnspecifiedMatching -OMIM:614968 SH2D4A skos:exactMatch ncbigene:63898 semapv:UnspecifiedMatching -OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:26066 semapv:UnspecifiedMatching -OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:TUG1 semapv:UnspecifiedMatching -OMIM:614971 TUG1 skos:exactMatch ncbigene:55000 semapv:UnspecifiedMatching -OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:43894 semapv:UnspecifiedMatching -OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:FENDRR semapv:UnspecifiedMatching -OMIM:614975 FENDRR skos:exactMatch ncbigene:400550 semapv:UnspecifiedMatching -OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:49124 semapv:UnspecifiedMatching -OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:LINC01081 semapv:UnspecifiedMatching -OMIM:614977 LINC01081 skos:exactMatch ncbigene:101154687 semapv:UnspecifiedMatching -OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:49125 semapv:UnspecifiedMatching -OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:LINC01082 semapv:UnspecifiedMatching -OMIM:614978 LINC01082 skos:exactMatch ncbigene:100506542 semapv:UnspecifiedMatching -OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch Orphanet:313800 semapv:UnspecifiedMatching -OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching -OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:871 semapv:UnspecifiedMatching -OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:ATP5IF1 semapv:UnspecifiedMatching -OMIM:614981 ATPIF1 skos:exactMatch ncbigene:93974 semapv:UnspecifiedMatching -OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:29090 semapv:UnspecifiedMatching -OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:SMCHD1 semapv:UnspecifiedMatching -OMIM:614982 SMCHD1 skos:exactMatch ncbigene:23347 semapv:UnspecifiedMatching -OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:25163 semapv:UnspecifiedMatching -OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:BATF2 semapv:UnspecifiedMatching -OMIM:614983 BATF2 skos:exactMatch ncbigene:116071 semapv:UnspecifiedMatching -OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:23537 semapv:UnspecifiedMatching -OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:DHTKD1 semapv:UnspecifiedMatching -OMIM:614984 DHTKD1 skos:exactMatch ncbigene:55526 semapv:UnspecifiedMatching -OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:43984 semapv:UnspecifiedMatching -OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:HELLPAR semapv:UnspecifiedMatching -OMIM:614985 HELLPAR skos:exactMatch ncbigene:101101692 semapv:UnspecifiedMatching -OMIM:614986 CAMK2N1 skos:exactMatch UMLS:C1824522 semapv:UnspecifiedMatching -OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:24190 semapv:UnspecifiedMatching -OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:CAMK2N1 semapv:UnspecifiedMatching -OMIM:614986 CAMK2N1 skos:exactMatch ncbigene:55450 semapv:UnspecifiedMatching -OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:21295 semapv:UnspecifiedMatching -OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:EPS8L1 semapv:UnspecifiedMatching -OMIM:614987 EPS8L1 skos:exactMatch ncbigene:54869 semapv:UnspecifiedMatching -OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:21296 semapv:UnspecifiedMatching -OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:EPS8L2 semapv:UnspecifiedMatching -OMIM:614988 EPS8L2 skos:exactMatch ncbigene:64787 semapv:UnspecifiedMatching -OMIM:614989 EPS8L3 skos:exactMatch UMLS:C1333349 semapv:UnspecifiedMatching -OMIM:614989 EPS8L3 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching -OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:21297 semapv:UnspecifiedMatching -OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:EPS8L3 semapv:UnspecifiedMatching -OMIM:614989 EPS8L3 skos:exactMatch ncbigene:79574 semapv:UnspecifiedMatching -OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:40600 semapv:UnspecifiedMatching -OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:UCHL1-DT semapv:UnspecifiedMatching -OMIM:614991 UCH1LAS skos:exactMatch ncbigene:101410542 semapv:UnspecifiedMatching -OMIM:614992 LINC00237 skos:exactMatch hgnc.symbol:38166 semapv:UnspecifiedMatching -OMIM:614992 LINC00237 skos:exactMatch hgnc.symbol:LINC00237 semapv:UnspecifiedMatching -OMIM:614992 LINC00237 skos:exactMatch ncbigene:105372556 semapv:UnspecifiedMatching -OMIM:614993 CAMKV skos:exactMatch hgnc.symbol:28788 semapv:UnspecifiedMatching -OMIM:614993 CAMKV skos:exactMatch hgnc.symbol:CAMKV semapv:UnspecifiedMatching -OMIM:614993 CAMKV skos:exactMatch ncbigene:79012 semapv:UnspecifiedMatching -OMIM:614994 CAMK1G skos:exactMatch hgnc.symbol:14585 semapv:UnspecifiedMatching -OMIM:614994 CAMK1G skos:exactMatch hgnc.symbol:CAMK1G semapv:UnspecifiedMatching -OMIM:614994 CAMK1G skos:exactMatch ncbigene:57172 semapv:UnspecifiedMatching -OMIM:614995 IL17RE skos:exactMatch hgnc.symbol:18439 semapv:UnspecifiedMatching -OMIM:614995 IL17RE skos:exactMatch hgnc.symbol:IL17RE semapv:UnspecifiedMatching -OMIM:614995 IL17RE skos:exactMatch ncbigene:132014 semapv:UnspecifiedMatching -OMIM:614996 MSE skos:exactMatch ncbigene:101180900 semapv:UnspecifiedMatching -OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:29989 semapv:UnspecifiedMatching -OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:GATAD2A semapv:UnspecifiedMatching -OMIM:614997 GATAD2A skos:exactMatch ncbigene:54815 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch UMLS:C1539553 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:30778 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:GATAD2B semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch ncbigene:57459 semapv:UnspecifiedMatching -OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:20244 semapv:UnspecifiedMatching -OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:CYP4X1 semapv:UnspecifiedMatching -OMIM:614999 CYP4X1 skos:exactMatch ncbigene:260293 semapv:UnspecifiedMatching -OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:19957 semapv:UnspecifiedMatching -OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:TECPR2 semapv:UnspecifiedMatching -OMIM:615000 TECPR2 skos:exactMatch ncbigene:9895 semapv:UnspecifiedMatching -OMIM:615001 ZC3H12C skos:exactMatch hgnc.symbol:29362 semapv:UnspecifiedMatching -OMIM:615001 ZC3H12C skos:exactMatch hgnc.symbol:ZC3H12C semapv:UnspecifiedMatching -OMIM:615001 ZC3H12C skos:exactMatch ncbigene:85463 semapv:UnspecifiedMatching -OMIM:615002 CAMKK2 skos:exactMatch hgnc.symbol:1470 semapv:UnspecifiedMatching -OMIM:615002 CAMKK2 skos:exactMatch hgnc.symbol:CAMKK2 semapv:UnspecifiedMatching -OMIM:615002 CAMKK2 skos:exactMatch ncbigene:10645 semapv:UnspecifiedMatching -OMIM:615003 DDHD2 skos:exactMatch hgnc.symbol:29106 semapv:UnspecifiedMatching -OMIM:615003 DDHD2 skos:exactMatch hgnc.symbol:DDHD2 semapv:UnspecifiedMatching -OMIM:615003 DDHD2 skos:exactMatch ncbigene:23259 semapv:UnspecifiedMatching -OMIM:615004 LRIT3 skos:exactMatch hgnc.symbol:24783 semapv:UnspecifiedMatching -OMIM:615004 LRIT3 skos:exactMatch hgnc.symbol:LRIT3 semapv:UnspecifiedMatching -OMIM:615004 LRIT3 skos:exactMatch ncbigene:345193 semapv:UnspecifiedMatching -OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching -OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:4737 semapv:UnspecifiedMatching -OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:H2AC11 semapv:UnspecifiedMatching -OMIM:615012 HIST1H2AG skos:exactMatch ncbigene:8969 semapv:UnspecifiedMatching -OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:13671 semapv:UnspecifiedMatching -OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:H2AC12 semapv:UnspecifiedMatching -OMIM:615013 HIST1H2AH skos:exactMatch ncbigene:85235 semapv:UnspecifiedMatching -OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:20508 semapv:UnspecifiedMatching -OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:H2AC21 semapv:UnspecifiedMatching -OMIM:615014 HIST2H2AB skos:exactMatch ncbigene:317772 semapv:UnspecifiedMatching -OMIM:615015 HIST3H2A skos:exactMatch hgnc.symbol:H2AC25 semapv:UnspecifiedMatching -OMIM:615015 HIST3H2A skos:exactMatch ncbigene:92815 semapv:UnspecifiedMatching -OMIM:615016 OR2J3 skos:exactMatch hgnc.symbol:8261 semapv:UnspecifiedMatching -OMIM:615016 OR2J3 skos:exactMatch hgnc.symbol:OR2J3 semapv:UnspecifiedMatching -OMIM:615016 OR2J3 skos:exactMatch ncbigene:442186 semapv:UnspecifiedMatching -OMIM:615017 MIR139 skos:exactMatch hgnc.symbol:31526 semapv:UnspecifiedMatching -OMIM:615017 MIR139 skos:exactMatch hgnc.symbol:MIR139 semapv:UnspecifiedMatching -OMIM:615017 MIR139 skos:exactMatch ncbigene:406931 semapv:UnspecifiedMatching -OMIM:615019 ELP5 skos:exactMatch hgnc.symbol:30617 semapv:UnspecifiedMatching -OMIM:615019 ELP5 skos:exactMatch hgnc.symbol:ELP5 semapv:UnspecifiedMatching -OMIM:615019 ELP5 skos:exactMatch ncbigene:23587 semapv:UnspecifiedMatching -OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:25976 semapv:UnspecifiedMatching -OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:ELP6 semapv:UnspecifiedMatching -OMIM:615020 ELP6 skos:exactMatch ncbigene:54859 semapv:UnspecifiedMatching -OMIM:615027 SINHCAF skos:exactMatch hgnc.symbol:30702 semapv:UnspecifiedMatching -OMIM:615027 SINHCAF skos:exactMatch hgnc.symbol:SINHCAF semapv:UnspecifiedMatching -OMIM:615027 SINHCAF skos:exactMatch ncbigene:58516 semapv:UnspecifiedMatching -OMIM:615029 CBLN4 skos:exactMatch hgnc.symbol:16231 semapv:UnspecifiedMatching -OMIM:615029 CBLN4 skos:exactMatch hgnc.symbol:CBLN4 semapv:UnspecifiedMatching -OMIM:615029 CBLN4 skos:exactMatch ncbigene:140689 semapv:UnspecifiedMatching -OMIM:615032 intellectual developmental disorder with autism and macrocephaly skos:exactMatch UMLS:C3554373 semapv:UnspecifiedMatching -OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:32065 semapv:UnspecifiedMatching -OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:MIR410 semapv:UnspecifiedMatching -OMIM:615036 MIR410 skos:exactMatch ncbigene:574434 semapv:UnspecifiedMatching -OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:32533 semapv:UnspecifiedMatching -OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:MIR487B semapv:UnspecifiedMatching -OMIM:615037 MIR487B skos:exactMatch ncbigene:664616 semapv:UnspecifiedMatching -OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:26560 semapv:UnspecifiedMatching -OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:ODAD1 semapv:UnspecifiedMatching -OMIM:615038 ODAD1 skos:exactMatch ncbigene:93233 semapv:UnspecifiedMatching -OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:20779 semapv:UnspecifiedMatching -OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:NDST4 semapv:UnspecifiedMatching -OMIM:615039 NDST4 skos:exactMatch ncbigene:64579 semapv:UnspecifiedMatching -OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:4761 semapv:UnspecifiedMatching -OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:H2BC11 semapv:UnspecifiedMatching -OMIM:615044 HIST1H2BJ skos:exactMatch ncbigene:8970 semapv:UnspecifiedMatching -OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:13954 semapv:UnspecifiedMatching -OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:H2BC12 semapv:UnspecifiedMatching -OMIM:615045 HIST1H2BK skos:exactMatch ncbigene:85236 semapv:UnspecifiedMatching -OMIM:615046 HIST3H2BB skos:exactMatch hgnc.symbol:H2BC26 semapv:UnspecifiedMatching -OMIM:615046 HIST3H2BB skos:exactMatch ncbigene:128312 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch UMLS:C1823227 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch UMLS:C5394588 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch UMLS:C5394589 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:30212 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:TANC2 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch ncbigene:26115 semapv:UnspecifiedMatching -OMIM:615049 WAC skos:exactMatch hgnc.symbol:17327 semapv:UnspecifiedMatching -OMIM:615049 WAC skos:exactMatch hgnc.symbol:WAC semapv:UnspecifiedMatching -OMIM:615049 WAC skos:exactMatch ncbigene:51322 semapv:UnspecifiedMatching -OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:17180 semapv:UnspecifiedMatching -OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:ASB5 semapv:UnspecifiedMatching -OMIM:615050 ASB5 skos:exactMatch ncbigene:140458 semapv:UnspecifiedMatching -OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:17181 semapv:UnspecifiedMatching -OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:ASB6 semapv:UnspecifiedMatching -OMIM:615051 ASB6 skos:exactMatch ncbigene:140459 semapv:UnspecifiedMatching -OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:17182 semapv:UnspecifiedMatching -OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:ASB7 semapv:UnspecifiedMatching -OMIM:615052 ASB7 skos:exactMatch ncbigene:140460 semapv:UnspecifiedMatching -OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:17183 semapv:UnspecifiedMatching -OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:ASB8 semapv:UnspecifiedMatching -OMIM:615053 ASB8 skos:exactMatch ncbigene:140461 semapv:UnspecifiedMatching -OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:17185 semapv:UnspecifiedMatching -OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:ASB10 semapv:UnspecifiedMatching -OMIM:615054 ASB10 skos:exactMatch ncbigene:136371 semapv:UnspecifiedMatching -OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:19765 semapv:UnspecifiedMatching -OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:ASB13 semapv:UnspecifiedMatching -OMIM:615055 ASB13 skos:exactMatch ncbigene:79754 semapv:UnspecifiedMatching -OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:19768 semapv:UnspecifiedMatching -OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:ASB16 semapv:UnspecifiedMatching -OMIM:615056 ASB16 skos:exactMatch ncbigene:92591 semapv:UnspecifiedMatching -OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching -OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch UMLS:C3554399 semapv:UnspecifiedMatching -OMIM:615059 hypotrichosis 11 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching -OMIM:615059 hypotrichosis 11 skos:exactMatch UMLS:C3554409 semapv:UnspecifiedMatching -OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:18395 semapv:UnspecifiedMatching -OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:SCGB1D1 semapv:UnspecifiedMatching -OMIM:615060 SCGB1D1 skos:exactMatch ncbigene:10648 semapv:UnspecifiedMatching -OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:18396 semapv:UnspecifiedMatching -OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:SCGB1D2 semapv:UnspecifiedMatching -OMIM:615061 SCGB1D2 skos:exactMatch ncbigene:10647 semapv:UnspecifiedMatching -OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:31748 semapv:UnspecifiedMatching -OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:SCGB1D4 semapv:UnspecifiedMatching -OMIM:615062 SCGB1D4 skos:exactMatch ncbigene:404552 semapv:UnspecifiedMatching -OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:27616 semapv:UnspecifiedMatching -OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:SCGB2B2 semapv:UnspecifiedMatching -OMIM:615063 SCGB2B2 skos:exactMatch ncbigene:284402 semapv:UnspecifiedMatching -OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:20116 semapv:UnspecifiedMatching -OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:SLC25A29 semapv:UnspecifiedMatching -OMIM:615064 SLC25A29 skos:exactMatch ncbigene:123096 semapv:UnspecifiedMatching -OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:29331 semapv:UnspecifiedMatching -OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:EPG5 semapv:UnspecifiedMatching -OMIM:615068 EPG5 skos:exactMatch ncbigene:57724 semapv:UnspecifiedMatching -OMIM:615069 H4-16 skos:exactMatch hgnc.symbol:H4C16 semapv:UnspecifiedMatching -OMIM:615069 H4-16 skos:exactMatch ncbigene:121504 semapv:UnspecifiedMatching -OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:32846 semapv:UnspecifiedMatching -OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:MIR590 semapv:UnspecifiedMatching -OMIM:615070 MIR590 skos:exactMatch ncbigene:693175 semapv:UnspecifiedMatching -OMIM:615071 alazami syndrome skos:exactMatch Orphanet:319671 semapv:UnspecifiedMatching -OMIM:615071 alazami syndrome skos:exactMatch UMLS:C3554439 semapv:UnspecifiedMatching -OMIM:615074 gand syndrome skos:exactMatch Orphanet:363686 semapv:UnspecifiedMatching -OMIM:615074 gand syndrome skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching -OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:16205 semapv:UnspecifiedMatching -OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:MGME1 semapv:UnspecifiedMatching -OMIM:615076 MGME1 skos:exactMatch ncbigene:92667 semapv:UnspecifiedMatching -OMIM:615077 TBC1D30 skos:exactMatch hgnc.symbol:29164 semapv:UnspecifiedMatching -OMIM:615077 TBC1D30 skos:exactMatch hgnc.symbol:TBC1D30 semapv:UnspecifiedMatching -OMIM:615077 TBC1D30 skos:exactMatch ncbigene:23329 semapv:UnspecifiedMatching -OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:20175 semapv:UnspecifiedMatching -OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:GOLT1B semapv:UnspecifiedMatching -OMIM:615078 GOLT1B skos:exactMatch ncbigene:51026 semapv:UnspecifiedMatching -OMIM:615079 ASUN skos:exactMatch hgnc.symbol:20174 semapv:UnspecifiedMatching -OMIM:615079 ASUN skos:exactMatch hgnc.symbol:INTS13 semapv:UnspecifiedMatching -OMIM:615079 ASUN skos:exactMatch ncbigene:55726 semapv:UnspecifiedMatching -OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching -OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching -OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch UMLS:C3554460 semapv:UnspecifiedMatching -OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:26522 semapv:UnspecifiedMatching -OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:HARBI1 semapv:UnspecifiedMatching -OMIM:615086 HARBI1 skos:exactMatch ncbigene:283254 semapv:UnspecifiedMatching -OMIM:615088 ATG13 skos:exactMatch UMLS:C3146638 semapv:UnspecifiedMatching -OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:29091 semapv:UnspecifiedMatching -OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:ATG13 semapv:UnspecifiedMatching -OMIM:615088 ATG13 skos:exactMatch ncbigene:9776 semapv:UnspecifiedMatching -OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:25679 semapv:UnspecifiedMatching -OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:ATG101 semapv:UnspecifiedMatching -OMIM:615089 ATG101 skos:exactMatch ncbigene:60673 semapv:UnspecifiedMatching -OMIM:615090 IFNL4 skos:exactMatch UMLS:C3541708 semapv:UnspecifiedMatching -OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:44480 semapv:UnspecifiedMatching -OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:IFNL4 semapv:UnspecifiedMatching -OMIM:615090 IFNL4 skos:exactMatch ncbigene:101180976 semapv:UnspecifiedMatching -OMIM:615093 LY6K skos:exactMatch hgnc.symbol:24225 semapv:UnspecifiedMatching -OMIM:615093 LY6K skos:exactMatch hgnc.symbol:LY6K semapv:UnspecifiedMatching -OMIM:615093 LY6K skos:exactMatch ncbigene:54742 semapv:UnspecifiedMatching -OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:26715 semapv:UnspecifiedMatching -OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:PROX2 semapv:UnspecifiedMatching -OMIM:615094 PROX2 skos:exactMatch ncbigene:283571 semapv:UnspecifiedMatching -OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch Orphanet:329228 semapv:UnspecifiedMatching -OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch UMLS:C3554499 semapv:UnspecifiedMatching -OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:31594 semapv:UnspecifiedMatching -OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:MIR217 semapv:UnspecifiedMatching -OMIM:615096 MIR217 skos:exactMatch ncbigene:406999 semapv:UnspecifiedMatching -OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:11046 semapv:UnspecifiedMatching -OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:SLC6A13 semapv:UnspecifiedMatching -OMIM:615097 SLC6A13 skos:exactMatch ncbigene:6540 semapv:UnspecifiedMatching -OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:29179 semapv:UnspecifiedMatching -OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:TTC28 semapv:UnspecifiedMatching -OMIM:615098 TTC28 skos:exactMatch ncbigene:23331 semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch UMLS:C2239422 semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch hgnc.symbol:26727 semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch hgnc.symbol:ERFE semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch ncbigene:151176 semapv:UnspecifiedMatching -OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:25330 semapv:UnspecifiedMatching -OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:CTTNBP2NL semapv:UnspecifiedMatching -OMIM:615100 CTTNBP2NL skos:exactMatch ncbigene:55917 semapv:UnspecifiedMatching -OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:12412 semapv:UnspecifiedMatching -OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:TUBB2A semapv:UnspecifiedMatching -OMIM:615101 TUBB2A skos:exactMatch ncbigene:7280 semapv:UnspecifiedMatching -OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:20776 semapv:UnspecifiedMatching -OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:TUBB6 semapv:UnspecifiedMatching -OMIM:615103 TUBB6 skos:exactMatch ncbigene:84617 semapv:UnspecifiedMatching -OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:29321 semapv:UnspecifiedMatching -OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:NCKAP5L semapv:UnspecifiedMatching -OMIM:615104 NCKAP5L skos:exactMatch ncbigene:57701 semapv:UnspecifiedMatching -OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:28469 semapv:UnspecifiedMatching -OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:MRI1 semapv:UnspecifiedMatching -OMIM:615105 MRI1 skos:exactMatch ncbigene:84245 semapv:UnspecifiedMatching -OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:28786 semapv:UnspecifiedMatching -OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:WDR53 semapv:UnspecifiedMatching -OMIM:615110 WDR53 skos:exactMatch ncbigene:348793 semapv:UnspecifiedMatching -OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:26192 semapv:UnspecifiedMatching -OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:DENND2D semapv:UnspecifiedMatching -OMIM:615111 DENND2D skos:exactMatch ncbigene:79961 semapv:UnspecifiedMatching -OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:28990 semapv:UnspecifiedMatching -OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:ZNF516 semapv:UnspecifiedMatching -OMIM:615114 ZNF516 skos:exactMatch ncbigene:9658 semapv:UnspecifiedMatching -OMIM:615115 ASXL3 skos:exactMatch UMLS:C2239906 semapv:UnspecifiedMatching -OMIM:615115 ASXL3 skos:exactMatch UMLS:C3809650 semapv:UnspecifiedMatching -OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:29357 semapv:UnspecifiedMatching -OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:ASXL3 semapv:UnspecifiedMatching -OMIM:615115 ASXL3 skos:exactMatch ncbigene:80816 semapv:UnspecifiedMatching -OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:32429 semapv:UnspecifiedMatching -OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:SPEM1 semapv:UnspecifiedMatching -OMIM:615116 SPEM1 skos:exactMatch ncbigene:374768 semapv:UnspecifiedMatching -OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:28191 semapv:UnspecifiedMatching -OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:C2orf88 semapv:UnspecifiedMatching -OMIM:615117 C2ORF88 skos:exactMatch ncbigene:84281 semapv:UnspecifiedMatching -OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching -OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching -OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:21268 semapv:UnspecifiedMatching -OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:ANKRD13A semapv:UnspecifiedMatching -OMIM:615123 ANKRD13A skos:exactMatch ncbigene:88455 semapv:UnspecifiedMatching -OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:26363 semapv:UnspecifiedMatching -OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:ANKRD13B semapv:UnspecifiedMatching -OMIM:615124 ANKRD13B skos:exactMatch ncbigene:124930 semapv:UnspecifiedMatching -OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:25374 semapv:UnspecifiedMatching -OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:ANKRD13C semapv:UnspecifiedMatching -OMIM:615125 ANKRD13C skos:exactMatch ncbigene:81573 semapv:UnspecifiedMatching -OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:27880 semapv:UnspecifiedMatching -OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:ANKRD13D semapv:UnspecifiedMatching -OMIM:615126 ANKRD13D skos:exactMatch ncbigene:338692 semapv:UnspecifiedMatching -OMIM:615128 CENPX skos:exactMatch hgnc.symbol:11422 semapv:UnspecifiedMatching -OMIM:615128 CENPX skos:exactMatch hgnc.symbol:CENPX semapv:UnspecifiedMatching -OMIM:615128 CENPX skos:exactMatch ncbigene:201254 semapv:UnspecifiedMatching -OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:4127 semapv:UnspecifiedMatching -OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:GALNT5 semapv:UnspecifiedMatching -OMIM:615129 GALNT5 skos:exactMatch ncbigene:11227 semapv:UnspecifiedMatching -OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:19875 semapv:UnspecifiedMatching -OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:GALNT11 semapv:UnspecifiedMatching -OMIM:615130 GALNT11 skos:exactMatch ncbigene:63917 semapv:UnspecifiedMatching -OMIM:615131 GALNT15 skos:exactMatch UMLS:C1427591 semapv:UnspecifiedMatching -OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:21531 semapv:UnspecifiedMatching -OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:GALNT15 semapv:UnspecifiedMatching -OMIM:615131 GALNT15 skos:exactMatch ncbigene:117248 semapv:UnspecifiedMatching -OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:23233 semapv:UnspecifiedMatching -OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:GALNT16 semapv:UnspecifiedMatching -OMIM:615132 GALNT16 skos:exactMatch ncbigene:57452 semapv:UnspecifiedMatching -OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:21725 semapv:UnspecifiedMatching -OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:GALNTL5 semapv:UnspecifiedMatching -OMIM:615133 GALNTL5 skos:exactMatch ncbigene:168391 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:511 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching -OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:30488 semapv:UnspecifiedMatching -OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:GALNT18 semapv:UnspecifiedMatching -OMIM:615136 GALNT18 skos:exactMatch ncbigene:374378 semapv:UnspecifiedMatching -OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:16347 semapv:UnspecifiedMatching -OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:GALNT17 semapv:UnspecifiedMatching -OMIM:615137 GALNT17 skos:exactMatch ncbigene:64409 semapv:UnspecifiedMatching -OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:33844 semapv:UnspecifiedMatching -OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:GALNTL6 semapv:UnspecifiedMatching -OMIM:615138 GALNTL6 skos:exactMatch ncbigene:442117 semapv:UnspecifiedMatching -OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:29521 semapv:UnspecifiedMatching -OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:C12orf57 semapv:UnspecifiedMatching -OMIM:615140 C12ORF57 skos:exactMatch ncbigene:113246 semapv:UnspecifiedMatching -OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:29443 semapv:UnspecifiedMatching -OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:KIF2B semapv:UnspecifiedMatching -OMIM:615142 KIF2B skos:exactMatch ncbigene:84643 semapv:UnspecifiedMatching -OMIM:615143 USP20 skos:exactMatch hgnc.symbol:12619 semapv:UnspecifiedMatching -OMIM:615143 USP20 skos:exactMatch hgnc.symbol:USP20 semapv:UnspecifiedMatching -OMIM:615143 USP20 skos:exactMatch ncbigene:10868 semapv:UnspecifiedMatching -OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:30824 semapv:UnspecifiedMatching -OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:PRSS55 semapv:UnspecifiedMatching -OMIM:615144 PRSS55 skos:exactMatch ncbigene:203074 semapv:UnspecifiedMatching -OMIM:615146 USP33 skos:exactMatch hgnc.symbol:20059 semapv:UnspecifiedMatching -OMIM:615146 USP33 skos:exactMatch hgnc.symbol:USP33 semapv:UnspecifiedMatching -OMIM:615146 USP33 skos:exactMatch ncbigene:23032 semapv:UnspecifiedMatching -OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:32806 semapv:UnspecifiedMatching -OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:MIR551A semapv:UnspecifiedMatching -OMIM:615148 MIR551A skos:exactMatch ncbigene:693135 semapv:UnspecifiedMatching -OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:32085 semapv:UnspecifiedMatching -OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:MIR495 semapv:UnspecifiedMatching -OMIM:615149 MIR495 skos:exactMatch ncbigene:574453 semapv:UnspecifiedMatching -OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:31561 semapv:UnspecifiedMatching -OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:MIR191 semapv:UnspecifiedMatching -OMIM:615150 MIR191 skos:exactMatch ncbigene:406966 semapv:UnspecifiedMatching -OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:31626 semapv:UnspecifiedMatching -OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:MIR30C1 semapv:UnspecifiedMatching -OMIM:615151 MIR30C1 skos:exactMatch ncbigene:407031 semapv:UnspecifiedMatching -OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:22194 semapv:UnspecifiedMatching -OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:KLHDC10 semapv:UnspecifiedMatching -OMIM:615152 KLHDC10 skos:exactMatch ncbigene:23008 semapv:UnspecifiedMatching -OMIM:615153 MLKL skos:exactMatch hgnc.symbol:26617 semapv:UnspecifiedMatching -OMIM:615153 MLKL skos:exactMatch hgnc.symbol:MLKL semapv:UnspecifiedMatching -OMIM:615153 MLKL skos:exactMatch ncbigene:197259 semapv:UnspecifiedMatching -OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:23460 semapv:UnspecifiedMatching -OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:DYDC1 semapv:UnspecifiedMatching -OMIM:615154 DYDC1 skos:exactMatch ncbigene:143241 semapv:UnspecifiedMatching -OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:4945 semapv:UnspecifiedMatching -OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:HLA-DQB2 semapv:UnspecifiedMatching -OMIM:615161 HLA-DQB2 skos:exactMatch ncbigene:3120 semapv:UnspecifiedMatching -OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:25744 semapv:UnspecifiedMatching -OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:AKIRIN1 semapv:UnspecifiedMatching -OMIM:615164 AKIRIN1 skos:exactMatch ncbigene:79647 semapv:UnspecifiedMatching -OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:21407 semapv:UnspecifiedMatching -OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:AKIRIN2 semapv:UnspecifiedMatching -OMIM:615165 AKIRIN2 skos:exactMatch ncbigene:55122 semapv:UnspecifiedMatching -OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:28783 semapv:UnspecifiedMatching -OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:CMC1 semapv:UnspecifiedMatching -OMIM:615166 CMC1 skos:exactMatch ncbigene:152100 semapv:UnspecifiedMatching -OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:21769 semapv:UnspecifiedMatching -OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:LRWD1 semapv:UnspecifiedMatching -OMIM:615167 LRWD1 skos:exactMatch ncbigene:222229 semapv:UnspecifiedMatching -OMIM:615168 AMZ1 skos:exactMatch UMLS:C2239529 semapv:UnspecifiedMatching -OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:22231 semapv:UnspecifiedMatching -OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:AMZ1 semapv:UnspecifiedMatching -OMIM:615168 AMZ1 skos:exactMatch ncbigene:155185 semapv:UnspecifiedMatching -OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:28041 semapv:UnspecifiedMatching -OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:AMZ2 semapv:UnspecifiedMatching -OMIM:615169 AMZ2 skos:exactMatch ncbigene:51321 semapv:UnspecifiedMatching -OMIM:615171 loc100134040 gene skos:exactMatch ncbigene:100134040 semapv:UnspecifiedMatching -OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:30206 semapv:UnspecifiedMatching -OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:RNFT1 semapv:UnspecifiedMatching -OMIM:615172 RNFT1 skos:exactMatch ncbigene:51136 semapv:UnspecifiedMatching -OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:43773 semapv:UnspecifiedMatching -OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:LINC-ROR semapv:UnspecifiedMatching -OMIM:615173 LINC-ROR skos:exactMatch ncbigene:100885779 semapv:UnspecifiedMatching -OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:15547 semapv:UnspecifiedMatching -OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:TDH semapv:UnspecifiedMatching -OMIM:615175 TLCD3B skos:exactMatch UMLS:C1539464 semapv:UnspecifiedMatching -OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:25295 semapv:UnspecifiedMatching -OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:TLCD3B semapv:UnspecifiedMatching -OMIM:615175 TLCD3B skos:exactMatch ncbigene:83723 semapv:UnspecifiedMatching -OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:45091 semapv:UnspecifiedMatching -OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:NPTN-IT1 semapv:UnspecifiedMatching -OMIM:615176 NPTNIT1 skos:exactMatch ncbigene:101241892 semapv:UnspecifiedMatching -OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:21151 semapv:UnspecifiedMatching -OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:RNF126 semapv:UnspecifiedMatching -OMIM:615177 RNF126 skos:exactMatch ncbigene:55658 semapv:UnspecifiedMatching -OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:28420 semapv:UnspecifiedMatching -OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:KXD1 semapv:UnspecifiedMatching -OMIM:615178 KXD1 skos:exactMatch ncbigene:79036 semapv:UnspecifiedMatching -OMIM:615180 TIMM21 skos:exactMatch UMLS:C3469993 semapv:UnspecifiedMatching -OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:25010 semapv:UnspecifiedMatching -OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:TIMM21 semapv:UnspecifiedMatching -OMIM:615180 TIMM21 skos:exactMatch ncbigene:29090 semapv:UnspecifiedMatching -OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:26428 semapv:UnspecifiedMatching -OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:FAAP20 semapv:UnspecifiedMatching -OMIM:615183 C1ORF86 skos:exactMatch ncbigene:199990 semapv:UnspecifiedMatching -OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:29322 semapv:UnspecifiedMatching -OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:CWC22 semapv:UnspecifiedMatching -OMIM:615186 CWC22 skos:exactMatch ncbigene:57703 semapv:UnspecifiedMatching -OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:17893 semapv:UnspecifiedMatching -OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:PGAP2 semapv:UnspecifiedMatching -OMIM:615187 PGAP2 skos:exactMatch ncbigene:27315 semapv:UnspecifiedMatching -OMIM:615188 cataract 39, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching -OMIM:615188 cataract 39, multiple types skos:exactMatch UMLS:C3808800 semapv:UnspecifiedMatching -OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:25681 semapv:UnspecifiedMatching -OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:ANKRD55 semapv:UnspecifiedMatching -OMIM:615189 ANKRD55 skos:exactMatch ncbigene:79722 semapv:UnspecifiedMatching -OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:18349 semapv:UnspecifiedMatching -OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:DHRS2 semapv:UnspecifiedMatching -OMIM:615194 DHRS2 skos:exactMatch ncbigene:10202 semapv:UnspecifiedMatching -OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:19732 semapv:UnspecifiedMatching -OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:DHRS4L1 semapv:UnspecifiedMatching -OMIM:615195 DHRS4L1 skos:exactMatch ncbigene:728635 semapv:UnspecifiedMatching -OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:19731 semapv:UnspecifiedMatching -OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:DHRS4L2 semapv:UnspecifiedMatching -OMIM:615196 DHRS4L2 skos:exactMatch ncbigene:317749 semapv:UnspecifiedMatching -OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching -OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch UMLS:C3554665 semapv:UnspecifiedMatching -OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:15546 semapv:UnspecifiedMatching -OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:SLC35G5 semapv:UnspecifiedMatching -OMIM:615199 SLC35G5 skos:exactMatch ncbigene:83650 semapv:UnspecifiedMatching -OMIM:615200 PLEKHF1 skos:exactMatch UMLS:C1427120 semapv:UnspecifiedMatching -OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:20764 semapv:UnspecifiedMatching -OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:PLEKHF1 semapv:UnspecifiedMatching -OMIM:615200 PLEKHF1 skos:exactMatch ncbigene:79156 semapv:UnspecifiedMatching -OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:35393 semapv:UnspecifiedMatching -OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:MIR1909 semapv:UnspecifiedMatching -OMIM:615201 MIR1909 skos:exactMatch ncbigene:100302210 semapv:UnspecifiedMatching -OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:35399 semapv:UnspecifiedMatching -OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:MIR1915 semapv:UnspecifiedMatching -OMIM:615202 MIR1915 skos:exactMatch ncbigene:100302129 semapv:UnspecifiedMatching -OMIM:615203 RHBDD2 skos:exactMatch hgnc.symbol:23082 semapv:UnspecifiedMatching -OMIM:615203 RHBDD2 skos:exactMatch hgnc.symbol:RHBDD2 semapv:UnspecifiedMatching -OMIM:615203 RHBDD2 skos:exactMatch ncbigene:57414 semapv:UnspecifiedMatching -OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:30889 semapv:UnspecifiedMatching -OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:ATP5MK semapv:UnspecifiedMatching -OMIM:615204 ATP5MD skos:exactMatch ncbigene:84833 semapv:UnspecifiedMatching -OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:27200 semapv:UnspecifiedMatching -OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:SPINK13 semapv:UnspecifiedMatching -OMIM:615205 SPINK13 skos:exactMatch ncbigene:153218 semapv:UnspecifiedMatching -OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:20757 semapv:UnspecifiedMatching -OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:PLEKHF2 semapv:UnspecifiedMatching -OMIM:615208 PLEKHF2 skos:exactMatch ncbigene:79666 semapv:UnspecifiedMatching -OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:31536 semapv:UnspecifiedMatching -OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:MIR149 semapv:UnspecifiedMatching -OMIM:615209 MIR149 skos:exactMatch ncbigene:406941 semapv:UnspecifiedMatching -OMIM:615210 PCNP skos:exactMatch hgnc.symbol:30023 semapv:UnspecifiedMatching -OMIM:615210 PCNP skos:exactMatch hgnc.symbol:PCNP semapv:UnspecifiedMatching -OMIM:615210 PCNP skos:exactMatch ncbigene:57092 semapv:UnspecifiedMatching -OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:12557 semapv:UnspecifiedMatching -OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:UHRF2 semapv:UnspecifiedMatching -OMIM:615211 UHRF2 skos:exactMatch ncbigene:115426 semapv:UnspecifiedMatching -OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:27005 semapv:UnspecifiedMatching -OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:LRRC38 semapv:UnspecifiedMatching -OMIM:615212 LRRC38 skos:exactMatch ncbigene:126755 semapv:UnspecifiedMatching -OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:32324 semapv:UnspecifiedMatching -OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:LRRC55 semapv:UnspecifiedMatching -OMIM:615213 LRRC55 skos:exactMatch ncbigene:219527 semapv:UnspecifiedMatching -OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:18867 semapv:UnspecifiedMatching -OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:KCNU1 semapv:UnspecifiedMatching -OMIM:615215 KCNU1 skos:exactMatch ncbigene:157855 semapv:UnspecifiedMatching -OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:29530 semapv:UnspecifiedMatching -OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:KIFC2 semapv:UnspecifiedMatching -OMIM:615216 KIFC2 skos:exactMatch ncbigene:90990 semapv:UnspecifiedMatching -OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:32156 semapv:UnspecifiedMatching -OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:LRRC52 semapv:UnspecifiedMatching -OMIM:615218 LRRC52 skos:exactMatch ncbigene:440699 semapv:UnspecifiedMatching -OMIM:615223 IFNE skos:exactMatch hgnc.symbol:18163 semapv:UnspecifiedMatching -OMIM:615223 IFNE skos:exactMatch hgnc.symbol:IFNE semapv:UnspecifiedMatching -OMIM:615223 IFNE skos:exactMatch ncbigene:338376 semapv:UnspecifiedMatching -OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch Orphanet:352662 semapv:UnspecifiedMatching -OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching -OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:19359 semapv:UnspecifiedMatching -OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:C1QL3 semapv:UnspecifiedMatching -OMIM:615227 C1QL3 skos:exactMatch ncbigene:389941 semapv:UnspecifiedMatching -OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching -OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching -OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:31416 semapv:UnspecifiedMatching -OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:C1QL4 semapv:UnspecifiedMatching -OMIM:615229 C1QL4 skos:exactMatch ncbigene:338761 semapv:UnspecifiedMatching -OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:49123 semapv:UnspecifiedMatching -OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:LINC01080 semapv:UnspecifiedMatching -OMIM:615230 LINC01080 skos:exactMatch ncbigene:101515984 semapv:UnspecifiedMatching -OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:21461 semapv:UnspecifiedMatching -OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:RC3H2 semapv:UnspecifiedMatching -OMIM:615231 RC3H2 skos:exactMatch ncbigene:54542 semapv:UnspecifiedMatching -OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:31638 semapv:UnspecifiedMatching -OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:MIR7-1 semapv:UnspecifiedMatching -OMIM:615239 MIR7-1 skos:exactMatch ncbigene:407043 semapv:UnspecifiedMatching -OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:23297 semapv:UnspecifiedMatching -OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:KCTD15 semapv:UnspecifiedMatching -OMIM:615240 KCTD15 skos:exactMatch ncbigene:79047 semapv:UnspecifiedMatching -OMIM:615241 TINCR skos:exactMatch hgnc.symbol:14607 semapv:UnspecifiedMatching -OMIM:615241 TINCR skos:exactMatch hgnc.symbol:TINCR semapv:UnspecifiedMatching -OMIM:615241 TINCR skos:exactMatch ncbigene:257000 semapv:UnspecifiedMatching -OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:44204 semapv:UnspecifiedMatching -OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:SMIM1 semapv:UnspecifiedMatching -OMIM:615242 SMIM1 skos:exactMatch ncbigene:388588 semapv:UnspecifiedMatching -OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:18095 semapv:UnspecifiedMatching -OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:DEFB114 semapv:UnspecifiedMatching -OMIM:615243 DEFB114 skos:exactMatch ncbigene:245928 semapv:UnspecifiedMatching -OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:33134 semapv:UnspecifiedMatching -OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:MIR671 semapv:UnspecifiedMatching -OMIM:615245 MIR671 skos:exactMatch ncbigene:768213 semapv:UnspecifiedMatching -OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:20710 semapv:UnspecifiedMatching -OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:ZBED2 semapv:UnspecifiedMatching -OMIM:615246 ZBED2 skos:exactMatch ncbigene:79413 semapv:UnspecifiedMatching -OMIM:615247 POMK skos:exactMatch hgnc.symbol:26267 semapv:UnspecifiedMatching -OMIM:615247 POMK skos:exactMatch hgnc.symbol:POMK semapv:UnspecifiedMatching -OMIM:615247 POMK skos:exactMatch ncbigene:84197 semapv:UnspecifiedMatching -OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:20711 semapv:UnspecifiedMatching -OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:ZBED3 semapv:UnspecifiedMatching -OMIM:615250 ZBED3 skos:exactMatch ncbigene:84327 semapv:UnspecifiedMatching -OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:30803 semapv:UnspecifiedMatching -OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:ZBED5 semapv:UnspecifiedMatching -OMIM:615251 ZBED5 skos:exactMatch ncbigene:58486 semapv:UnspecifiedMatching -OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:21720 semapv:UnspecifiedMatching -OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:ZBED10P semapv:UnspecifiedMatching -OMIM:615252 ZBED6CL skos:exactMatch ncbigene:113763 semapv:UnspecifiedMatching -OMIM:615253 ZBED8 skos:exactMatch hgnc.symbol:FAM200C semapv:UnspecifiedMatching -OMIM:615253 ZBED8 skos:exactMatch ncbigene:63920 semapv:UnspecifiedMatching -OMIM:615254 SCAND3 skos:exactMatch hgnc.symbol:SCAND3 semapv:UnspecifiedMatching -OMIM:615254 SCAND3 skos:exactMatch ncbigene:114821 semapv:UnspecifiedMatching -OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:28793 semapv:UnspecifiedMatching -OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:METTL18 semapv:UnspecifiedMatching -OMIM:615255 METTL18 skos:exactMatch ncbigene:92342 semapv:UnspecifiedMatching -OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:28739 semapv:UnspecifiedMatching -OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:ETFBKMT semapv:UnspecifiedMatching -OMIM:615256 ETFBKMT skos:exactMatch ncbigene:254013 semapv:UnspecifiedMatching -OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:30476 semapv:UnspecifiedMatching -OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:METTL21A semapv:UnspecifiedMatching -OMIM:615257 METTL21A skos:exactMatch ncbigene:151194 semapv:UnspecifiedMatching -OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:24936 semapv:UnspecifiedMatching -OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:EEF1AKMT3 semapv:UnspecifiedMatching -OMIM:615258 EEF1AKMT3 skos:exactMatch ncbigene:25895 semapv:UnspecifiedMatching -OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:33717 semapv:UnspecifiedMatching -OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:METTL21C semapv:UnspecifiedMatching -OMIM:615259 METTL21C skos:exactMatch ncbigene:196541 semapv:UnspecifiedMatching -OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:20352 semapv:UnspecifiedMatching -OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:VCPKMT semapv:UnspecifiedMatching -OMIM:615260 VCPKMT skos:exactMatch ncbigene:79609 semapv:UnspecifiedMatching -OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:28368 semapv:UnspecifiedMatching -OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:METTL22 semapv:UnspecifiedMatching -OMIM:615261 METTL22 skos:exactMatch ncbigene:79091 semapv:UnspecifiedMatching -OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:26988 semapv:UnspecifiedMatching -OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:METTL23 semapv:UnspecifiedMatching -OMIM:615262 METTL23 skos:exactMatch ncbigene:124512 semapv:UnspecifiedMatching -OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:32221 semapv:UnspecifiedMatching -OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:EEF2KMT semapv:UnspecifiedMatching -OMIM:615263 EEF2KMT skos:exactMatch ncbigene:196483 semapv:UnspecifiedMatching -OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:19752 semapv:UnspecifiedMatching -OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:FNBP4 semapv:UnspecifiedMatching -OMIM:615265 FNBP4 skos:exactMatch ncbigene:23360 semapv:UnspecifiedMatching -OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:404454 semapv:UnspecifiedMatching -OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching -OMIM:615275 ACOD1 skos:exactMatch UMLS:C2239547 semapv:UnspecifiedMatching -OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:33904 semapv:UnspecifiedMatching -OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:ACOD1 semapv:UnspecifiedMatching -OMIM:615275 ACOD1 skos:exactMatch ncbigene:730249 semapv:UnspecifiedMatching -OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:23752 semapv:UnspecifiedMatching -OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:CERS3 semapv:UnspecifiedMatching -OMIM:615276 CERS3 skos:exactMatch ncbigene:204219 semapv:UnspecifiedMatching -OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching -OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching -OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching -OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching -OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching -OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch UMLS:C3809007 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch UMLS:C1428397 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:24659 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:EXOC8 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch ncbigene:149371 semapv:UnspecifiedMatching -OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching -OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch UMLS:C3809039 semapv:UnspecifiedMatching -OMIM:615288 DRC1 skos:exactMatch UMLS:C1824106 semapv:UnspecifiedMatching -OMIM:615288 DRC1 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching -OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:24245 semapv:UnspecifiedMatching -OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:DRC1 semapv:UnspecifiedMatching -OMIM:615288 DRC1 skos:exactMatch ncbigene:92749 semapv:UnspecifiedMatching -OMIM:615289 MISP skos:exactMatch hgnc.symbol:27000 semapv:UnspecifiedMatching -OMIM:615289 MISP skos:exactMatch hgnc.symbol:MISP semapv:UnspecifiedMatching -OMIM:615289 MISP skos:exactMatch ncbigene:126353 semapv:UnspecifiedMatching -OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363447 semapv:UnspecifiedMatching -OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363454 semapv:UnspecifiedMatching -OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch UMLS:C4747715 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1425214 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017377 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017378 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:17978 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:B3GALT6 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch ncbigene:126792 semapv:UnspecifiedMatching -OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:24725 semapv:UnspecifiedMatching -OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:FAM111A semapv:UnspecifiedMatching -OMIM:615292 FAM111A skos:exactMatch ncbigene:63901 semapv:UnspecifiedMatching -OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching -OMIM:615295 USP34 skos:exactMatch hgnc.symbol:20066 semapv:UnspecifiedMatching -OMIM:615295 USP34 skos:exactMatch hgnc.symbol:USP34 semapv:UnspecifiedMatching -OMIM:615295 USP34 skos:exactMatch ncbigene:9736 semapv:UnspecifiedMatching -OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:15552 semapv:UnspecifiedMatching -OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:IL1F10 semapv:UnspecifiedMatching -OMIM:615296 IL1F10 skos:exactMatch ncbigene:84639 semapv:UnspecifiedMatching -OMIM:615297 adams-oliver syndrome 4 skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching -OMIM:615297 adams-oliver syndrome 4 skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching -OMIM:615298 symphalangism, proximal, 1b skos:exactMatch Orphanet:3250 semapv:UnspecifiedMatching -OMIM:615298 symphalangism, proximal, 1b skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching -OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:30482 semapv:UnspecifiedMatching -OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:NXNL2 semapv:UnspecifiedMatching -OMIM:615299 NXNL2 skos:exactMatch ncbigene:158046 semapv:UnspecifiedMatching -OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:25983 semapv:UnspecifiedMatching -OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:TMEM214 semapv:UnspecifiedMatching -OMIM:615301 TMEM214 skos:exactMatch ncbigene:54867 semapv:UnspecifiedMatching -OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:25151 semapv:UnspecifiedMatching -OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:ADAT3 semapv:UnspecifiedMatching -OMIM:615302 ADAT3 skos:exactMatch ncbigene:113179 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch UMLS:C1421119 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:12274 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:TRG-TCC1-1 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch ncbigene:7197 semapv:UnspecifiedMatching -OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:34985 semapv:UnspecifiedMatching -OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:TRV-CAC3-1 semapv:UnspecifiedMatching -OMIM:615304 TRV-CAC3-1 skos:exactMatch ncbigene:100189416 semapv:UnspecifiedMatching -OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:12344 semapv:UnspecifiedMatching -OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:TRR-ACG1-2 semapv:UnspecifiedMatching -OMIM:615305 TRR-ACG1-2 skos:exactMatch ncbigene:7231 semapv:UnspecifiedMatching -OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:34790 semapv:UnspecifiedMatching -OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:TRV-CAC1-6 semapv:UnspecifiedMatching -OMIM:615306 TRV-CAC1-6 skos:exactMatch ncbigene:100189227 semapv:UnspecifiedMatching -OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:34573 semapv:UnspecifiedMatching -OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:TRV-AAC5-1 semapv:UnspecifiedMatching -OMIM:615307 TRV-AAC5-1 skos:exactMatch ncbigene:100189014 semapv:UnspecifiedMatching -OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:34723 semapv:UnspecifiedMatching -OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:TRV-AAC4-1 semapv:UnspecifiedMatching -OMIM:615308 TRV-AAC4-1 skos:exactMatch ncbigene:100189161 semapv:UnspecifiedMatching -OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:34908 semapv:UnspecifiedMatching -OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:TRT-AGT2-2 semapv:UnspecifiedMatching -OMIM:615309 TRT-AGT2-2 skos:exactMatch ncbigene:100189340 semapv:UnspecifiedMatching -OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:34885 semapv:UnspecifiedMatching -OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:TRV-AAC1-1 semapv:UnspecifiedMatching -OMIM:615310 TRV-AAC1-1 skos:exactMatch ncbigene:100189318 semapv:UnspecifiedMatching -OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:18811 semapv:UnspecifiedMatching -OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:B3GNT7 semapv:UnspecifiedMatching -OMIM:615313 B3GNT7 skos:exactMatch ncbigene:93010 semapv:UnspecifiedMatching -OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35098 semapv:UnspecifiedMatching -OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching -OMIM:615314 craniosynostosis 3 skos:exactMatch UMLS:C3715051 semapv:UnspecifiedMatching -OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:24141 semapv:UnspecifiedMatching -OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:B3GNT6 semapv:UnspecifiedMatching -OMIM:615315 B3GNT6 skos:exactMatch ncbigene:192134 semapv:UnspecifiedMatching -OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:27302 semapv:UnspecifiedMatching -OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:IBA57 semapv:UnspecifiedMatching -OMIM:615316 IBA57 skos:exactMatch ncbigene:200205 semapv:UnspecifiedMatching -OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:19857 semapv:UnspecifiedMatching -OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:ISCA2 semapv:UnspecifiedMatching -OMIM:615317 ISCA2 skos:exactMatch ncbigene:122961 semapv:UnspecifiedMatching -OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:20952 semapv:UnspecifiedMatching -OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:TMEM14C semapv:UnspecifiedMatching -OMIM:615318 TMEM14C skos:exactMatch ncbigene:51522 semapv:UnspecifiedMatching -OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:20387 semapv:UnspecifiedMatching -OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:IMPACT semapv:UnspecifiedMatching -OMIM:615319 IMPACT skos:exactMatch ncbigene:55364 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch UMLS:C1539586 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:22932 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:GMPPB semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch ncbigene:29925 semapv:UnspecifiedMatching -OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:2065 semapv:UnspecifiedMatching -OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:CLIC6 semapv:UnspecifiedMatching -OMIM:615321 CLIC6 skos:exactMatch ncbigene:54102 semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch UMLS:C1537608 semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch hgnc.symbol:24613 semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch hgnc.symbol:NRROS semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch ncbigene:375387 semapv:UnspecifiedMatching -OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:28953 semapv:UnspecifiedMatching -OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:JOSD1 semapv:UnspecifiedMatching -OMIM:615323 JOSD1 skos:exactMatch ncbigene:9929 semapv:UnspecifiedMatching -OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:28853 semapv:UnspecifiedMatching -OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:JOSD2 semapv:UnspecifiedMatching -OMIM:615324 JOSD2 skos:exactMatch ncbigene:126119 semapv:UnspecifiedMatching -OMIM:615326 IFNK skos:exactMatch hgnc.symbol:21714 semapv:UnspecifiedMatching -OMIM:615326 IFNK skos:exactMatch hgnc.symbol:IFNK semapv:UnspecifiedMatching -OMIM:615326 IFNK skos:exactMatch ncbigene:56832 semapv:UnspecifiedMatching -OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:24968 semapv:UnspecifiedMatching -OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:EXOC2 semapv:UnspecifiedMatching -OMIM:615329 EXOC2 skos:exactMatch ncbigene:55770 semapv:UnspecifiedMatching -OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:21728 semapv:UnspecifiedMatching -OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:IRF2BP1 semapv:UnspecifiedMatching -OMIM:615331 IRF2BP1 skos:exactMatch ncbigene:26145 semapv:UnspecifiedMatching -OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:21729 semapv:UnspecifiedMatching -OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:IRF2BP2 semapv:UnspecifiedMatching -OMIM:615332 IRF2BP2 skos:exactMatch ncbigene:359948 semapv:UnspecifiedMatching -OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:15684 semapv:UnspecifiedMatching -OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:B3GNT5 semapv:UnspecifiedMatching -OMIM:615333 B3GNT5 skos:exactMatch ncbigene:84002 semapv:UnspecifiedMatching -OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:23747 semapv:UnspecifiedMatching -OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:CERS4 semapv:UnspecifiedMatching -OMIM:615334 CERS4 skos:exactMatch ncbigene:79603 semapv:UnspecifiedMatching -OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:23749 semapv:UnspecifiedMatching -OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:CERS5 semapv:UnspecifiedMatching -OMIM:615335 CERS5 skos:exactMatch ncbigene:91012 semapv:UnspecifiedMatching -OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:23826 semapv:UnspecifiedMatching -OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:CERS6 semapv:UnspecifiedMatching -OMIM:615336 CERS6 skos:exactMatch ncbigene:253782 semapv:UnspecifiedMatching -OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:21727 semapv:UnspecifiedMatching -OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:B3GNTL1 semapv:UnspecifiedMatching -OMIM:615337 B3GNTL1 skos:exactMatch ncbigene:146712 semapv:UnspecifiedMatching -OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching -OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:352596 semapv:UnspecifiedMatching -OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching -OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:20325 semapv:UnspecifiedMatching -OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:DNAJC15 semapv:UnspecifiedMatching -OMIM:615339 DNAJC15 skos:exactMatch ncbigene:29103 semapv:UnspecifiedMatching -OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:30372 semapv:UnspecifiedMatching -OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:KLHL40 semapv:UnspecifiedMatching -OMIM:615340 kelch-like 40: klhl40 skos:exactMatch ncbigene:131377 semapv:UnspecifiedMatching -OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:20575 semapv:UnspecifiedMatching -OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:CYP4A22 semapv:UnspecifiedMatching -OMIM:615341 CYP4A22 skos:exactMatch ncbigene:284541 semapv:UnspecifiedMatching -OMIM:615345 MYMK skos:exactMatch hgnc.symbol:33778 semapv:UnspecifiedMatching -OMIM:615345 MYMK skos:exactMatch hgnc.symbol:MYMK semapv:UnspecifiedMatching -OMIM:615345 MYMK skos:exactMatch ncbigene:389827 semapv:UnspecifiedMatching -OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:29230 semapv:UnspecifiedMatching -OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:ATAD2B semapv:UnspecifiedMatching -OMIM:615347 ATAD2B skos:exactMatch ncbigene:54454 semapv:UnspecifiedMatching -OMIM:615348 nemaline myopathy 8 skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching -OMIM:615348 nemaline myopathy 8 skos:exactMatch UMLS:C3809209 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching -OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching -OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching -OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching -OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching -OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching -OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch Orphanet:363623 semapv:UnspecifiedMatching -OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching -OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:21098 semapv:UnspecifiedMatching -OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:CCDC28A semapv:UnspecifiedMatching -OMIM:615353 CCDC28A skos:exactMatch ncbigene:25901 semapv:UnspecifiedMatching -OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:30299 semapv:UnspecifiedMatching -OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:LRIF1 semapv:UnspecifiedMatching -OMIM:615354 LRIF1 skos:exactMatch ncbigene:55791 semapv:UnspecifiedMatching -OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:24139 semapv:UnspecifiedMatching -OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:B3GNT8 semapv:UnspecifiedMatching -OMIM:615357 B3GNT8 skos:exactMatch ncbigene:374907 semapv:UnspecifiedMatching -OMIM:615358 AK9 skos:exactMatch hgnc.symbol:33814 semapv:UnspecifiedMatching -OMIM:615358 AK9 skos:exactMatch hgnc.symbol:AK9 semapv:UnspecifiedMatching -OMIM:615358 AK9 skos:exactMatch ncbigene:221264 semapv:UnspecifiedMatching -OMIM:615359 MIOS skos:exactMatch UMLS:C2681663 semapv:UnspecifiedMatching -OMIM:615359 MIOS skos:exactMatch hgnc.symbol:21905 semapv:UnspecifiedMatching -OMIM:615359 MIOS skos:exactMatch hgnc.symbol:MIOS semapv:UnspecifiedMatching -OMIM:615359 MIOS skos:exactMatch ncbigene:54468 semapv:UnspecifiedMatching -OMIM:615364 AK7 skos:exactMatch hgnc.symbol:20091 semapv:UnspecifiedMatching -OMIM:615364 AK7 skos:exactMatch hgnc.symbol:AK7 semapv:UnspecifiedMatching -OMIM:615364 AK7 skos:exactMatch ncbigene:122481 semapv:UnspecifiedMatching -OMIM:615365 AK8 skos:exactMatch hgnc.symbol:26526 semapv:UnspecifiedMatching -OMIM:615365 AK8 skos:exactMatch hgnc.symbol:AK8 semapv:UnspecifiedMatching -OMIM:615365 AK8 skos:exactMatch ncbigene:158067 semapv:UnspecifiedMatching -OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:24557 semapv:UnspecifiedMatching -OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:NOL11 semapv:UnspecifiedMatching -OMIM:615366 NOL11 skos:exactMatch ncbigene:25926 semapv:UnspecifiedMatching -OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:29909 semapv:UnspecifiedMatching -OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:NTAN1 semapv:UnspecifiedMatching -OMIM:615367 NTAN1 skos:exactMatch ncbigene:123803 semapv:UnspecifiedMatching -OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch Orphanet:363409 semapv:UnspecifiedMatching -OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching -OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching -OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching -OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch UMLS:C3809278 semapv:UnspecifiedMatching -OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:26724 semapv:UnspecifiedMatching -OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:ANKS6 semapv:UnspecifiedMatching -OMIM:615370 ANKS6 skos:exactMatch ncbigene:203286 semapv:UnspecifiedMatching -OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:38258 semapv:UnspecifiedMatching -OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:MIR1260B semapv:UnspecifiedMatching -OMIM:615372 MIR1260B skos:exactMatch ncbigene:100422991 semapv:UnspecifiedMatching -OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:17368 semapv:UnspecifiedMatching -OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:IRAK1BP1 semapv:UnspecifiedMatching -OMIM:615375 IRAK1BP1 skos:exactMatch ncbigene:134728 semapv:UnspecifiedMatching -OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:32906 semapv:UnspecifiedMatching -OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:MIR650 semapv:UnspecifiedMatching -OMIM:615379 MIR650 skos:exactMatch ncbigene:723778 semapv:UnspecifiedMatching -OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:20363 semapv:UnspecifiedMatching -OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:AREL1 semapv:UnspecifiedMatching -OMIM:615380 AREL1 skos:exactMatch ncbigene:9870 semapv:UnspecifiedMatching -OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:13286 semapv:UnspecifiedMatching -OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:FIGNL1 semapv:UnspecifiedMatching -OMIM:615383 FIGNL1 skos:exactMatch ncbigene:63979 semapv:UnspecifiedMatching -OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:28971 semapv:UnspecifiedMatching -OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:SPIDR semapv:UnspecifiedMatching -OMIM:615384 SPIDR skos:exactMatch ncbigene:23514 semapv:UnspecifiedMatching -OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:32067 semapv:UnspecifiedMatching -OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:MIR485 semapv:UnspecifiedMatching -OMIM:615385 MIR485 skos:exactMatch ncbigene:574436 semapv:UnspecifiedMatching -OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:21172 semapv:UnspecifiedMatching -OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:ADAT2 semapv:UnspecifiedMatching -OMIM:615388 ADAT2 skos:exactMatch ncbigene:134637 semapv:UnspecifiedMatching -OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:23487 semapv:UnspecifiedMatching -OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:IDI2 semapv:UnspecifiedMatching -OMIM:615389 IDI2 skos:exactMatch ncbigene:91734 semapv:UnspecifiedMatching -OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:30885 semapv:UnspecifiedMatching -OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:IDI2-AS1 semapv:UnspecifiedMatching -OMIM:615391 IDI2AS1 skos:exactMatch ncbigene:55853 semapv:UnspecifiedMatching -OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:20256 semapv:UnspecifiedMatching -OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:SFMBT2 semapv:UnspecifiedMatching -OMIM:615392 SFMBT2 skos:exactMatch ncbigene:57713 semapv:UnspecifiedMatching -OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:28785 semapv:UnspecifiedMatching -OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:MTERF4 semapv:UnspecifiedMatching -OMIM:615393 MTERF4 skos:exactMatch ncbigene:130916 semapv:UnspecifiedMatching -OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:31802 semapv:UnspecifiedMatching -OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:NSUN4 semapv:UnspecifiedMatching -OMIM:615394 NSUN4 skos:exactMatch ncbigene:387338 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch UMLS:C1823273 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:28369 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:THOC6 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch ncbigene:79228 semapv:UnspecifiedMatching -OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:26230 semapv:UnspecifiedMatching -OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:TM4SF20 semapv:UnspecifiedMatching -OMIM:615404 TM4SF20 skos:exactMatch ncbigene:79853 semapv:UnspecifiedMatching -OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:19663 semapv:UnspecifiedMatching -OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:GNG12 semapv:UnspecifiedMatching -OMIM:615405 GNG12 skos:exactMatch ncbigene:55970 semapv:UnspecifiedMatching -OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:43938 semapv:UnspecifiedMatching -OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:GNG12-AS1 semapv:UnspecifiedMatching -OMIM:615406 GNG12AS1 skos:exactMatch ncbigene:100289178 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch UMLS:C1424778 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch UMLS:C4747737 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch UMLS:C4749131 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:17146 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:ARL2BP semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch ncbigene:23568 semapv:UnspecifiedMatching -OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:25583 semapv:UnspecifiedMatching -OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:ODAD2 semapv:UnspecifiedMatching -OMIM:615408 ODAD2 skos:exactMatch ncbigene:55130 semapv:UnspecifiedMatching -OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:26463 semapv:UnspecifiedMatching -OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:SPATA33 semapv:UnspecifiedMatching -OMIM:615409 SPATA33 skos:exactMatch ncbigene:124045 semapv:UnspecifiedMatching -OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:21232 semapv:UnspecifiedMatching -OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:MRAP2 semapv:UnspecifiedMatching -OMIM:615410 MRAP2 skos:exactMatch ncbigene:112609 semapv:UnspecifiedMatching -OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching -OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch UMLS:C3809431 semapv:UnspecifiedMatching -OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:35126 semapv:UnspecifiedMatching -OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:BHLHA9 semapv:UnspecifiedMatching -OMIM:615416 BHLHA9 skos:exactMatch ncbigene:727857 semapv:UnspecifiedMatching -OMIM:615417 BET1L skos:exactMatch hgnc.symbol:19348 semapv:UnspecifiedMatching -OMIM:615417 BET1L skos:exactMatch hgnc.symbol:BET1L semapv:UnspecifiedMatching -OMIM:615417 BET1L skos:exactMatch ncbigene:51272 semapv:UnspecifiedMatching -OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:26575 semapv:UnspecifiedMatching -OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:PRIMPOL semapv:UnspecifiedMatching -OMIM:615421 CCDC111 skos:exactMatch ncbigene:201973 semapv:UnspecifiedMatching -OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:26022 semapv:UnspecifiedMatching -OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:TRMT10C semapv:UnspecifiedMatching -OMIM:615423 TRMT10C skos:exactMatch ncbigene:54931 semapv:UnspecifiedMatching -OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:26158 semapv:UnspecifiedMatching -OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:ELMOD3 semapv:UnspecifiedMatching -OMIM:615427 ELMOD3 skos:exactMatch ncbigene:84173 semapv:UnspecifiedMatching -OMIM:615428 DDX47 skos:exactMatch UMLS:C1425702 semapv:UnspecifiedMatching -OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:18682 semapv:UnspecifiedMatching -OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:DDX47 semapv:UnspecifiedMatching -OMIM:615428 DDX47 skos:exactMatch ncbigene:51202 semapv:UnspecifiedMatching -OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:31723 semapv:UnspecifiedMatching -OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:TMEM241 semapv:UnspecifiedMatching -OMIM:615430 TMEM241 skos:exactMatch ncbigene:85019 semapv:UnspecifiedMatching -OMIM:615432 specific language impairment 5 skos:exactMatch UMLS:C3809483 semapv:UnspecifiedMatching -OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:13280 semapv:UnspecifiedMatching -OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:ERO1A semapv:UnspecifiedMatching -OMIM:615435 ERO1L skos:exactMatch ncbigene:30001 semapv:UnspecifiedMatching -OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:14355 semapv:UnspecifiedMatching -OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:ERO1B semapv:UnspecifiedMatching -OMIM:615437 ERO1LB skos:exactMatch ncbigene:56605 semapv:UnspecifiedMatching -OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch Orphanet:369913 semapv:UnspecifiedMatching -OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching -OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:12157 semapv:UnspecifiedMatching -OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:TRBC2 semapv:UnspecifiedMatching -OMIM:615445 TRBC2 skos:exactMatch ncbigene:28638 semapv:UnspecifiedMatching -OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:12158 semapv:UnspecifiedMatching -OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:TRBD1 semapv:UnspecifiedMatching -OMIM:615447 TRBD1 skos:exactMatch ncbigene:28637 semapv:UnspecifiedMatching -OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:12159 semapv:UnspecifiedMatching -OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:TRBD2 semapv:UnspecifiedMatching -OMIM:615448 TRBD2 skos:exactMatch ncbigene:28636 semapv:UnspecifiedMatching -OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:12276 semapv:UnspecifiedMatching -OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:TRGC2 semapv:UnspecifiedMatching -OMIM:615450 TRGC2 skos:exactMatch ncbigene:6967 semapv:UnspecifiedMatching -OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:48942 semapv:UnspecifiedMatching -OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:PRNCR1 semapv:UnspecifiedMatching -OMIM:615452 PRNCR1 skos:exactMatch ncbigene:101867536 semapv:UnspecifiedMatching -OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:25334 semapv:UnspecifiedMatching -OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:ELMOD1 semapv:UnspecifiedMatching -OMIM:615456 ELMOD1 skos:exactMatch ncbigene:55531 semapv:UnspecifiedMatching -OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:21862 semapv:UnspecifiedMatching -OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:DYNC2I1 semapv:UnspecifiedMatching -OMIM:615462 WDR60 skos:exactMatch ncbigene:55112 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch UMLS:C1825662 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:29040 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:SZT2 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch ncbigene:23334 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch UMLS:C1539234 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:25360 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:DDX59 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch ncbigene:83479 semapv:UnspecifiedMatching -OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:13519 semapv:UnspecifiedMatching -OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:TLNRD1 semapv:UnspecifiedMatching -OMIM:615466 TLNRD1 skos:exactMatch ncbigene:59274 semapv:UnspecifiedMatching -OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:28116 semapv:UnspecifiedMatching -OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:CPTP semapv:UnspecifiedMatching -OMIM:615467 GLTPD1 skos:exactMatch ncbigene:80772 semapv:UnspecifiedMatching -OMIM:615468 immunodeficiency 12 skos:exactMatch Orphanet:397964 semapv:UnspecifiedMatching -OMIM:615468 immunodeficiency 12 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching -OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:32830 semapv:UnspecifiedMatching -OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:MIR574 semapv:UnspecifiedMatching -OMIM:615469 MIR574 skos:exactMatch ncbigene:693159 semapv:UnspecifiedMatching -OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:25907 semapv:UnspecifiedMatching -OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:CEP89 semapv:UnspecifiedMatching -OMIM:615470 CEP89 skos:exactMatch ncbigene:84902 semapv:UnspecifiedMatching -OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:2243 semapv:UnspecifiedMatching -OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:COPZ1 semapv:UnspecifiedMatching -OMIM:615472 COPZ1 skos:exactMatch ncbigene:22818 semapv:UnspecifiedMatching -OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching -OMIM:615475 DHX34 skos:exactMatch UMLS:C1424505 semapv:UnspecifiedMatching -OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:16719 semapv:UnspecifiedMatching -OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:DHX34 semapv:UnspecifiedMatching -OMIM:615475 DHX34 skos:exactMatch ncbigene:9704 semapv:UnspecifiedMatching -OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching -OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:22009 semapv:UnspecifiedMatching -OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:NYAP1 semapv:UnspecifiedMatching -OMIM:615477 NYAP1 skos:exactMatch ncbigene:222950 semapv:UnspecifiedMatching -OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:29291 semapv:UnspecifiedMatching -OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:NYAP2 semapv:UnspecifiedMatching -OMIM:615478 NYAP2 skos:exactMatch ncbigene:57624 semapv:UnspecifiedMatching -OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:29822 semapv:UnspecifiedMatching -OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:MYO16 semapv:UnspecifiedMatching -OMIM:615479 MYO16 skos:exactMatch ncbigene:23026 semapv:UnspecifiedMatching -OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:48597 semapv:UnspecifiedMatching -OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:BLACAT1 semapv:UnspecifiedMatching -OMIM:615480 BLACAT1 skos:exactMatch ncbigene:101669762 semapv:UnspecifiedMatching -OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:25734 semapv:UnspecifiedMatching -OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:PTCD2 semapv:UnspecifiedMatching -OMIM:615484 PTCD2 skos:exactMatch ncbigene:79810 semapv:UnspecifiedMatching -OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:32624 semapv:UnspecifiedMatching -OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:SNORA2C semapv:UnspecifiedMatching -OMIM:615487 SNORA2C skos:exactMatch ncbigene:677815 semapv:UnspecifiedMatching -OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:26024 semapv:UnspecifiedMatching -OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:KANSL2 semapv:UnspecifiedMatching -OMIM:615488 KANSL2 skos:exactMatch ncbigene:54934 semapv:UnspecifiedMatching -OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch Orphanet:356996 semapv:UnspecifiedMatching -OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch UMLS:C1412981 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017383 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017384 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:1301 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:CFAP298 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch ncbigene:56683 semapv:UnspecifiedMatching -OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:22923 semapv:UnspecifiedMatching -OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:GMPPA semapv:UnspecifiedMatching -OMIM:615495 GMPPA skos:exactMatch ncbigene:29926 semapv:UnspecifiedMatching -OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:26504 semapv:UnspecifiedMatching -OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:AGBL1 semapv:UnspecifiedMatching -OMIM:615496 AGBL1 skos:exactMatch ncbigene:123624 semapv:UnspecifiedMatching -OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:25979 semapv:UnspecifiedMatching -OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:MIEF1 semapv:UnspecifiedMatching -OMIM:615497 MIEF1 skos:exactMatch ncbigene:54471 semapv:UnspecifiedMatching -OMIM:615498 MIEF2 skos:exactMatch UMLS:C1425177 semapv:UnspecifiedMatching -OMIM:615498 MIEF2 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching -OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:17920 semapv:UnspecifiedMatching -OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:MIEF2 semapv:UnspecifiedMatching -OMIM:615498 MIEF2 skos:exactMatch ncbigene:125170 semapv:UnspecifiedMatching -OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:30263 semapv:UnspecifiedMatching -OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:PDP2 semapv:UnspecifiedMatching -OMIM:615499 PDP2 skos:exactMatch ncbigene:57546 semapv:UnspecifiedMatching -OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch UMLS:C3809684 semapv:UnspecifiedMatching -OMIM:615507 NISCH skos:exactMatch hgnc.symbol:18006 semapv:UnspecifiedMatching -OMIM:615507 NISCH skos:exactMatch hgnc.symbol:NISCH semapv:UnspecifiedMatching -OMIM:615507 NISCH skos:exactMatch ncbigene:11188 semapv:UnspecifiedMatching -OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:33351 semapv:UnspecifiedMatching -OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:MIR675 semapv:UnspecifiedMatching -OMIM:615509 MIR675 skos:exactMatch ncbigene:100033819 semapv:UnspecifiedMatching -OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:24224 semapv:UnspecifiedMatching -OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:CDK12 semapv:UnspecifiedMatching -OMIM:615514 CDK12 skos:exactMatch ncbigene:51755 semapv:UnspecifiedMatching -OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:11984 semapv:UnspecifiedMatching -OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:TOM1L2 semapv:UnspecifiedMatching -OMIM:615519 TOM1L2 skos:exactMatch ncbigene:146691 semapv:UnspecifiedMatching -OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:33691 semapv:UnspecifiedMatching -OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:MIR297 semapv:UnspecifiedMatching -OMIM:615520 MIR297 skos:exactMatch ncbigene:100126354 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch UMLS:C1539880 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:28423 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:STAC3 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch ncbigene:246329 semapv:UnspecifiedMatching -OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:2236 semapv:UnspecifiedMatching -OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:COPG1 semapv:UnspecifiedMatching -OMIM:615525 COPG1 skos:exactMatch ncbigene:22820 semapv:UnspecifiedMatching -OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:19356 semapv:UnspecifiedMatching -OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:COPZ2 semapv:UnspecifiedMatching -OMIM:615526 COPZ2 skos:exactMatch ncbigene:51226 semapv:UnspecifiedMatching -OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:28196 semapv:UnspecifiedMatching -OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:TMEM79 semapv:UnspecifiedMatching -OMIM:615531 TMEM79 skos:exactMatch ncbigene:84283 semapv:UnspecifiedMatching -OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:21056 semapv:UnspecifiedMatching -OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:ERMARD semapv:UnspecifiedMatching -OMIM:615532 ERMARD skos:exactMatch ncbigene:55780 semapv:UnspecifiedMatching -OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:30883 semapv:UnspecifiedMatching -OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:TMEM126B semapv:UnspecifiedMatching -OMIM:615533 TMEM126B skos:exactMatch ncbigene:55863 semapv:UnspecifiedMatching -OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:1321 semapv:UnspecifiedMatching -OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:TIMMDC1 semapv:UnspecifiedMatching -OMIM:615534 TIMMDC1 skos:exactMatch ncbigene:51300 semapv:UnspecifiedMatching -OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:26703 semapv:UnspecifiedMatching -OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:SYNE4 semapv:UnspecifiedMatching -OMIM:615535 SYNE4 skos:exactMatch ncbigene:163183 semapv:UnspecifiedMatching -OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:34352 semapv:UnspecifiedMatching -OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:C2orf80 semapv:UnspecifiedMatching -OMIM:615536 C2ORF80 skos:exactMatch ncbigene:389073 semapv:UnspecifiedMatching -OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch Orphanet:391307 semapv:UnspecifiedMatching -OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch UMLS:C3809853 semapv:UnspecifiedMatching -OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:28782 semapv:UnspecifiedMatching -OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:ARPIN semapv:UnspecifiedMatching -OMIM:615543 ARPIN skos:exactMatch ncbigene:348110 semapv:UnspecifiedMatching -OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:398069 semapv:UnspecifiedMatching -OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching -OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C1859724 semapv:UnspecifiedMatching -OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching -OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:25781 semapv:UnspecifiedMatching -OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:ARMC5 semapv:UnspecifiedMatching -OMIM:615549 ARMC5 skos:exactMatch ncbigene:79798 semapv:UnspecifiedMatching -OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch UMLS:C1427398 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:21186 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:ATAT1 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch ncbigene:79969 semapv:UnspecifiedMatching -OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching -OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch UMLS:C3714942 semapv:UnspecifiedMatching -OMIM:615561 complement factor B deficiency skos:exactMatch UMLS:C3809950 semapv:UnspecifiedMatching -OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:13452 semapv:UnspecifiedMatching -OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:SPAG5 semapv:UnspecifiedMatching -OMIM:615562 SPAG5 skos:exactMatch ncbigene:10615 semapv:UnspecifiedMatching -OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:19339 semapv:UnspecifiedMatching -OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:NRBP2 semapv:UnspecifiedMatching -OMIM:615563 NRBP2 skos:exactMatch ncbigene:340371 semapv:UnspecifiedMatching -OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:16088 semapv:UnspecifiedMatching -OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:SFXN4 semapv:UnspecifiedMatching -OMIM:615564 SFXN4 skos:exactMatch ncbigene:119559 semapv:UnspecifiedMatching -OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:15854 semapv:UnspecifiedMatching -OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:BTBD3 semapv:UnspecifiedMatching -OMIM:615566 BTBD3 skos:exactMatch ncbigene:22903 semapv:UnspecifiedMatching -OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:19041 semapv:UnspecifiedMatching -OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:COQ8B semapv:UnspecifiedMatching -OMIM:615567 COQ8B skos:exactMatch ncbigene:79934 semapv:UnspecifiedMatching -OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:48603 semapv:UnspecifiedMatching -OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:SCHLAP1 semapv:UnspecifiedMatching -OMIM:615568 SCHLAP1 skos:exactMatch ncbigene:101669767 semapv:UnspecifiedMatching -OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:16085 semapv:UnspecifiedMatching -OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:SFXN1 semapv:UnspecifiedMatching -OMIM:615569 SFXN1 skos:exactMatch ncbigene:94081 semapv:UnspecifiedMatching -OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:16086 semapv:UnspecifiedMatching -OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:SFXN2 semapv:UnspecifiedMatching -OMIM:615570 SFXN2 skos:exactMatch ncbigene:118980 semapv:UnspecifiedMatching -OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:16087 semapv:UnspecifiedMatching -OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:SFXN3 semapv:UnspecifiedMatching -OMIM:615571 SFXN3 skos:exactMatch ncbigene:81855 semapv:UnspecifiedMatching -OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:16073 semapv:UnspecifiedMatching -OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:SFXN5 semapv:UnspecifiedMatching -OMIM:615572 SFXN5 skos:exactMatch ncbigene:94097 semapv:UnspecifiedMatching -OMIM:615574 asparagine synthetase deficiency skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching -OMIM:615574 asparagine synthetase deficiency skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching -OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:31556 semapv:UnspecifiedMatching -OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:MIR185 semapv:UnspecifiedMatching -OMIM:615576 MIR185 skos:exactMatch ncbigene:406961 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:293978 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching -OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:37931 semapv:UnspecifiedMatching -OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:ATXN7L3B semapv:UnspecifiedMatching -OMIM:615579 ATXN7L3B skos:exactMatch ncbigene:552889 semapv:UnspecifiedMatching -OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:29384 semapv:UnspecifiedMatching -OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:ZNF528 semapv:UnspecifiedMatching -OMIM:615580 ZNF528 skos:exactMatch ncbigene:84436 semapv:UnspecifiedMatching -OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:33855 semapv:UnspecifiedMatching -OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:DUX4L9 semapv:UnspecifiedMatching -OMIM:615581 DUX4L9 skos:exactMatch ncbigene:100288711 semapv:UnspecifiedMatching -OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:24200 semapv:UnspecifiedMatching -OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:FAM111B semapv:UnspecifiedMatching -OMIM:615584 FAM111B skos:exactMatch ncbigene:374393 semapv:UnspecifiedMatching -OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:32434 semapv:UnspecifiedMatching -OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:SLC38A8 semapv:UnspecifiedMatching -OMIM:615585 SLC38A8 skos:exactMatch ncbigene:146167 semapv:UnspecifiedMatching -OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:28209 semapv:UnspecifiedMatching -OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:CEP19 semapv:UnspecifiedMatching -OMIM:615586 CEP19 skos:exactMatch ncbigene:84984 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch UMLS:C1425136 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:17859 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:NUP188 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch ncbigene:23511 semapv:UnspecifiedMatching -OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:25055 semapv:UnspecifiedMatching -OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:SMDT1 semapv:UnspecifiedMatching -OMIM:615588 SMDT1 skos:exactMatch ncbigene:91689 semapv:UnspecifiedMatching -OMIM:615592 immunodeficiency 15b skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching -OMIM:615592 immunodeficiency 15b skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching -OMIM:615594 APELA skos:exactMatch hgnc.symbol:48925 semapv:UnspecifiedMatching -OMIM:615594 APELA skos:exactMatch hgnc.symbol:APELA semapv:UnspecifiedMatching -OMIM:615594 APELA skos:exactMatch ncbigene:100506013 semapv:UnspecifiedMatching -OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch Orphanet:370921 semapv:UnspecifiedMatching -OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching -OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching -OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch UMLS:C3810080 semapv:UnspecifiedMatching -OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:26421 semapv:UnspecifiedMatching -OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:ZNF582 semapv:UnspecifiedMatching -OMIM:615600 ZNF582 skos:exactMatch ncbigene:147948 semapv:UnspecifiedMatching -OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:27949 semapv:UnspecifiedMatching -OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:GADL1 semapv:UnspecifiedMatching -OMIM:615601 GADL1 skos:exactMatch ncbigene:339896 semapv:UnspecifiedMatching -OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:25632 semapv:UnspecifiedMatching -OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:CPPED1 semapv:UnspecifiedMatching -OMIM:615603 CPPED1 skos:exactMatch ncbigene:55313 semapv:UnspecifiedMatching -OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching -OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch UMLS:C3810100 semapv:UnspecifiedMatching -OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:26131 semapv:UnspecifiedMatching -OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:BTNL8 semapv:UnspecifiedMatching -OMIM:615606 BTNL8 skos:exactMatch ncbigene:79908 semapv:UnspecifiedMatching -OMIM:615608 VSIR skos:exactMatch UMLS:C1824302 semapv:UnspecifiedMatching -OMIM:615608 VSIR skos:exactMatch hgnc.symbol:30085 semapv:UnspecifiedMatching -OMIM:615608 VSIR skos:exactMatch hgnc.symbol:VSIR semapv:UnspecifiedMatching -OMIM:615608 VSIR skos:exactMatch ncbigene:64115 semapv:UnspecifiedMatching -OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:30553 semapv:UnspecifiedMatching -OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:SIAH3 semapv:UnspecifiedMatching -OMIM:615609 SIAH3 skos:exactMatch ncbigene:283514 semapv:UnspecifiedMatching -OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:26308 semapv:UnspecifiedMatching -OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:CDHR3 semapv:UnspecifiedMatching -OMIM:615610 CDHR3 skos:exactMatch ncbigene:222256 semapv:UnspecifiedMatching -OMIM:615611 CLPX skos:exactMatch hgnc.symbol:2088 semapv:UnspecifiedMatching -OMIM:615611 CLPX skos:exactMatch hgnc.symbol:CLPX semapv:UnspecifiedMatching -OMIM:615611 CLPX skos:exactMatch ncbigene:10845 semapv:UnspecifiedMatching -OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:48612 semapv:UnspecifiedMatching -OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:HCCAT5 semapv:UnspecifiedMatching -OMIM:615613 HCCAT5 skos:exactMatch ncbigene:283902 semapv:UnspecifiedMatching -OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:21475 semapv:UnspecifiedMatching -OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:MMS22L semapv:UnspecifiedMatching -OMIM:615614 MMS22L skos:exactMatch ncbigene:253714 semapv:UnspecifiedMatching -OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching -OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching -OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching -OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:22954 semapv:UnspecifiedMatching -OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:POGLUT1 semapv:UnspecifiedMatching -OMIM:615618 POGLUT1 skos:exactMatch ncbigene:56983 semapv:UnspecifiedMatching -OMIM:615620 KPTN skos:exactMatch hgnc.symbol:6404 semapv:UnspecifiedMatching -OMIM:615620 KPTN skos:exactMatch hgnc.symbol:KPTN semapv:UnspecifiedMatching -OMIM:615620 KPTN skos:exactMatch ncbigene:11133 semapv:UnspecifiedMatching -OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:25559 semapv:UnspecifiedMatching -OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:RESF1 semapv:UnspecifiedMatching -OMIM:615621 RESF1 skos:exactMatch ncbigene:55196 semapv:UnspecifiedMatching -OMIM:615622 THRIL skos:exactMatch hgnc.symbol:49503 semapv:UnspecifiedMatching -OMIM:615622 THRIL skos:exactMatch hgnc.symbol:THRIL semapv:UnspecifiedMatching -OMIM:615622 THRIL skos:exactMatch ncbigene:102659353 semapv:UnspecifiedMatching -OMIM:615623 COA7 skos:exactMatch hgnc.symbol:25716 semapv:UnspecifiedMatching -OMIM:615623 COA7 skos:exactMatch hgnc.symbol:COA7 semapv:UnspecifiedMatching -OMIM:615623 COA7 skos:exactMatch ncbigene:65260 semapv:UnspecifiedMatching -OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:37078 semapv:UnspecifiedMatching -OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:CRNDE semapv:UnspecifiedMatching -OMIM:615624 CRNDE skos:exactMatch ncbigene:643911 semapv:UnspecifiedMatching -OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:26929 semapv:UnspecifiedMatching -OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:CDIN1 semapv:UnspecifiedMatching -OMIM:615626 CDIN1 skos:exactMatch ncbigene:84529 semapv:UnspecifiedMatching -OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:14251 semapv:UnspecifiedMatching -OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:BRI3BP semapv:UnspecifiedMatching -OMIM:615627 BRI3BP skos:exactMatch ncbigene:140707 semapv:UnspecifiedMatching -OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:1109 semapv:UnspecifiedMatching -OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:BRI3 semapv:UnspecifiedMatching -OMIM:615628 BRI3 skos:exactMatch ncbigene:25798 semapv:UnspecifiedMatching -OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching -OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching -OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:28184 semapv:UnspecifiedMatching -OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:CHCHD6 semapv:UnspecifiedMatching -OMIM:615634 CHCHD6 skos:exactMatch ncbigene:84303 semapv:UnspecifiedMatching -OMIM:615635 ZFR skos:exactMatch hgnc.symbol:17277 semapv:UnspecifiedMatching -OMIM:615635 ZFR skos:exactMatch hgnc.symbol:ZFR semapv:UnspecifiedMatching -OMIM:615635 ZFR skos:exactMatch ncbigene:51663 semapv:UnspecifiedMatching -OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:24305 semapv:UnspecifiedMatching -OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:NCAPD2 semapv:UnspecifiedMatching -OMIM:615638 NCAPD2 skos:exactMatch ncbigene:9918 semapv:UnspecifiedMatching -OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:32567 semapv:UnspecifiedMatching -OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:SCARNA10 semapv:UnspecifiedMatching -OMIM:615639 SCARNA10 skos:exactMatch ncbigene:692148 semapv:UnspecifiedMatching -OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:32561 semapv:UnspecifiedMatching -OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:SCARNA5 semapv:UnspecifiedMatching -OMIM:615640 SCARNA5 skos:exactMatch ncbigene:677775 semapv:UnspecifiedMatching -OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:32562 semapv:UnspecifiedMatching -OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:SCARNA6 semapv:UnspecifiedMatching -OMIM:615641 SCARNA6 skos:exactMatch ncbigene:677772 semapv:UnspecifiedMatching -OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:32569 semapv:UnspecifiedMatching -OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:SCARNA12 semapv:UnspecifiedMatching -OMIM:615642 SCARNA12 skos:exactMatch ncbigene:677777 semapv:UnspecifiedMatching -OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:32563 semapv:UnspecifiedMatching -OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:SCARNA7 semapv:UnspecifiedMatching -OMIM:615644 SCARNA7 skos:exactMatch ncbigene:677767 semapv:UnspecifiedMatching -OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:32574 semapv:UnspecifiedMatching -OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:SCARNA17 semapv:UnspecifiedMatching -OMIM:615645 SCARNA17 skos:exactMatch ncbigene:677769 semapv:UnspecifiedMatching -OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:32564 semapv:UnspecifiedMatching -OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:SCARNA8 semapv:UnspecifiedMatching -OMIM:615646 SCARNA8 skos:exactMatch ncbigene:677776 semapv:UnspecifiedMatching -OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:33802 semapv:UnspecifiedMatching -OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:TEX19 semapv:UnspecifiedMatching -OMIM:615647 TEX19 skos:exactMatch ncbigene:400629 semapv:UnspecifiedMatching -OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:29889 semapv:UnspecifiedMatching -OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:NLRC3 semapv:UnspecifiedMatching -OMIM:615648 NLRC3 skos:exactMatch ncbigene:197358 semapv:UnspecifiedMatching -OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:24499 semapv:UnspecifiedMatching -OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:RGS22 semapv:UnspecifiedMatching -OMIM:615650 RGS22 skos:exactMatch ncbigene:26166 semapv:UnspecifiedMatching -OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:20999 semapv:UnspecifiedMatching -OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:ACOT13 semapv:UnspecifiedMatching -OMIM:615652 ACOT13 skos:exactMatch ncbigene:55856 semapv:UnspecifiedMatching -OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:26755 semapv:UnspecifiedMatching -OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:THEM5 semapv:UnspecifiedMatching -OMIM:615653 THEM5 skos:exactMatch ncbigene:284486 semapv:UnspecifiedMatching -OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:25249 semapv:UnspecifiedMatching -OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:ZRANB3 semapv:UnspecifiedMatching -OMIM:615655 ZRANB3 skos:exactMatch ncbigene:84083 semapv:UnspecifiedMatching -OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:31529 semapv:UnspecifiedMatching -OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:MIR142 semapv:UnspecifiedMatching -OMIM:615657 MIR142 skos:exactMatch ncbigene:406934 semapv:UnspecifiedMatching -OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:30366 semapv:UnspecifiedMatching -OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:TMEM131 semapv:UnspecifiedMatching -OMIM:615659 TMEM131 skos:exactMatch ncbigene:23505 semapv:UnspecifiedMatching -OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:10299 semapv:UnspecifiedMatching -OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:RPL10A semapv:UnspecifiedMatching -OMIM:615660 RPL10A skos:exactMatch ncbigene:4736 semapv:UnspecifiedMatching -OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:28194 semapv:UnspecifiedMatching -OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:PDCD2L semapv:UnspecifiedMatching -OMIM:615661 PDCD2L skos:exactMatch ncbigene:84306 semapv:UnspecifiedMatching -OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:14220 semapv:UnspecifiedMatching -OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:SERPINB12 semapv:UnspecifiedMatching -OMIM:615662 SERPINB12 skos:exactMatch ncbigene:89777 semapv:UnspecifiedMatching -OMIM:615663 warburg micro syndrome 4 skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching -OMIM:615663 warburg micro syndrome 4 skos:exactMatch UMLS:C3810265 semapv:UnspecifiedMatching -OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:29109 semapv:UnspecifiedMatching -OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:TESPA1 semapv:UnspecifiedMatching -OMIM:615664 TESPA1 skos:exactMatch ncbigene:9840 semapv:UnspecifiedMatching -OMIM:615665 joubert syndrome 22 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching -OMIM:615665 joubert syndrome 22 skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:26725 semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:TRMT9B semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch ncbigene:57604 semapv:UnspecifiedMatching -OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:26922 semapv:UnspecifiedMatching -OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:ERCC6L2 semapv:UnspecifiedMatching -OMIM:615667 ERCC6L2 skos:exactMatch ncbigene:375748 semapv:UnspecifiedMatching -OMIM:615669 EMB skos:exactMatch hgnc.symbol:30465 semapv:UnspecifiedMatching -OMIM:615669 EMB skos:exactMatch hgnc.symbol:EMB semapv:UnspecifiedMatching -OMIM:615669 EMB skos:exactMatch ncbigene:133418 semapv:UnspecifiedMatching -OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:20493 semapv:UnspecifiedMatching -OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:SETD3 semapv:UnspecifiedMatching -OMIM:615671 SETD3 skos:exactMatch ncbigene:84193 semapv:UnspecifiedMatching -OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:32088 semapv:UnspecifiedMatching -OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:MIR497 semapv:UnspecifiedMatching -OMIM:615672 MIR497 skos:exactMatch ncbigene:574456 semapv:UnspecifiedMatching -OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching -OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching -OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:31622 semapv:UnspecifiedMatching -OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:MIR301A semapv:UnspecifiedMatching -OMIM:615675 MIR301A skos:exactMatch ncbigene:407027 semapv:UnspecifiedMatching -OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:43642 semapv:UnspecifiedMatching -OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:TDRG1 semapv:UnspecifiedMatching -OMIM:615676 TDRG1 skos:exactMatch ncbigene:732253 semapv:UnspecifiedMatching -OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:15995 semapv:UnspecifiedMatching -OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:SERPINA9 semapv:UnspecifiedMatching -OMIM:615677 SERPINA9 skos:exactMatch ncbigene:327657 semapv:UnspecifiedMatching -OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:15567 semapv:UnspecifiedMatching -OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:SH3BGRL2 semapv:UnspecifiedMatching -OMIM:615678 SH3BGRL2 skos:exactMatch ncbigene:83699 semapv:UnspecifiedMatching -OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:15568 semapv:UnspecifiedMatching -OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:SH3BGRL3 semapv:UnspecifiedMatching -OMIM:615679 SH3BGRL3 skos:exactMatch ncbigene:83442 semapv:UnspecifiedMatching -OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:33701 semapv:UnspecifiedMatching -OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:CARD16 semapv:UnspecifiedMatching -OMIM:615680 CARD16 skos:exactMatch ncbigene:114769 semapv:UnspecifiedMatching -OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:14221 semapv:UnspecifiedMatching -OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:SERPINB11 semapv:UnspecifiedMatching -OMIM:615682 SERPINB11 skos:exactMatch ncbigene:89778 semapv:UnspecifiedMatching -OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:20193 semapv:UnspecifiedMatching -OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:HFM1 semapv:UnspecifiedMatching -OMIM:615684 HFM1 skos:exactMatch ncbigene:164045 semapv:UnspecifiedMatching -OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:38606 semapv:UnspecifiedMatching -OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:BECN2 semapv:UnspecifiedMatching -OMIM:615687 BECN2 skos:exactMatch ncbigene:441925 semapv:UnspecifiedMatching -OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:20824 semapv:UnspecifiedMatching -OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:AMIGO1 semapv:UnspecifiedMatching -OMIM:615689 AMIGO1 skos:exactMatch ncbigene:57463 semapv:UnspecifiedMatching -OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:24073 semapv:UnspecifiedMatching -OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:AMIGO2 semapv:UnspecifiedMatching -OMIM:615690 AMIGO2 skos:exactMatch ncbigene:347902 semapv:UnspecifiedMatching -OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:24075 semapv:UnspecifiedMatching -OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:AMIGO3 semapv:UnspecifiedMatching -OMIM:615691 AMIGO3 skos:exactMatch ncbigene:386724 semapv:UnspecifiedMatching -OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:28474 semapv:UnspecifiedMatching -OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:CHID1 semapv:UnspecifiedMatching -OMIM:615692 CHID1 skos:exactMatch ncbigene:66005 semapv:UnspecifiedMatching -OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:33789 semapv:UnspecifiedMatching -OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:COLCA1 semapv:UnspecifiedMatching -OMIM:615693 COLCA1 skos:exactMatch ncbigene:399948 semapv:UnspecifiedMatching -OMIM:615694 POU2AF3 skos:exactMatch hgnc.symbol:POU2AF3 semapv:UnspecifiedMatching -OMIM:615694 POU2AF3 skos:exactMatch ncbigene:120376 semapv:UnspecifiedMatching -OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:28591 semapv:UnspecifiedMatching -OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:HEXIM2 semapv:UnspecifiedMatching -OMIM:615695 HEXIM2 skos:exactMatch ncbigene:124790 semapv:UnspecifiedMatching -OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:17158 semapv:UnspecifiedMatching -OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:PLD3 semapv:UnspecifiedMatching -OMIM:615698 PLD3 skos:exactMatch ncbigene:23646 semapv:UnspecifiedMatching -OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:28449 semapv:UnspecifiedMatching -OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:ZFTA semapv:UnspecifiedMatching -OMIM:615699 ZFTA skos:exactMatch ncbigene:65998 semapv:UnspecifiedMatching -OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:30261 semapv:UnspecifiedMatching -OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:PYDC1 semapv:UnspecifiedMatching -OMIM:615700 PYDC1 skos:exactMatch ncbigene:260434 semapv:UnspecifiedMatching -OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:33512 semapv:UnspecifiedMatching -OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:PYDC2 semapv:UnspecifiedMatching -OMIM:615701 PYDC2 skos:exactMatch ncbigene:152138 semapv:UnspecifiedMatching -OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:15255 semapv:UnspecifiedMatching -OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:OR5AN1 semapv:UnspecifiedMatching -OMIM:615702 OR5AN1 skos:exactMatch ncbigene:390195 semapv:UnspecifiedMatching -OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch Orphanet:404499 semapv:UnspecifiedMatching -OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching -OMIM:615707 immunodeficiency 20 skos:exactMatch Orphanet:437552 semapv:UnspecifiedMatching -OMIM:615707 immunodeficiency 20 skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching -OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:21091 semapv:UnspecifiedMatching -OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:ZNF451 semapv:UnspecifiedMatching -OMIM:615708 ZNF451 skos:exactMatch ncbigene:26036 semapv:UnspecifiedMatching -OMIM:615710 mitchell-riley syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching -OMIM:615710 mitchell-riley syndrome skos:exactMatch UMLS:C2748662 semapv:UnspecifiedMatching -OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:25118 semapv:UnspecifiedMatching -OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:OTULIN semapv:UnspecifiedMatching -OMIM:615712 OTULIN skos:exactMatch ncbigene:90268 semapv:UnspecifiedMatching -OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:9397 semapv:UnspecifiedMatching -OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:ZMYND8 semapv:UnspecifiedMatching -OMIM:615713 ZMYND8 skos:exactMatch ncbigene:23613 semapv:UnspecifiedMatching -OMIM:615714 POLR1HASP skos:exactMatch UMLS:C1422276 semapv:UnspecifiedMatching -OMIM:615714 POLR1HASP skos:exactMatch hgnc.symbol:POLR1HASP semapv:UnspecifiedMatching -OMIM:615714 POLR1HASP skos:exactMatch ncbigene:80862 semapv:UnspecifiedMatching -OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching -OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching -OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:16178 semapv:UnspecifiedMatching -OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:BPIFB3 semapv:UnspecifiedMatching -OMIM:615717 BPIFB3 skos:exactMatch ncbigene:359710 semapv:UnspecifiedMatching -OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:16179 semapv:UnspecifiedMatching -OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:BPIFB4 semapv:UnspecifiedMatching -OMIM:615718 BPIFB4 skos:exactMatch ncbigene:149954 semapv:UnspecifiedMatching -OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:44088 semapv:UnspecifiedMatching -OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:TUNAR semapv:UnspecifiedMatching -OMIM:615719 TUNAR skos:exactMatch ncbigene:100507043 semapv:UnspecifiedMatching -OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:29326 semapv:UnspecifiedMatching -OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:SLC7A14 semapv:UnspecifiedMatching -OMIM:615720 SLC7A14 skos:exactMatch ncbigene:57709 semapv:UnspecifiedMatching -OMIM:615726 pachyonychia congenita 3 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching -OMIM:615726 pachyonychia congenita 3 skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching -OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:16346 semapv:UnspecifiedMatching -OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:KIR2DL5B semapv:UnspecifiedMatching -OMIM:615727 KIR2DL5B skos:exactMatch ncbigene:553128 semapv:UnspecifiedMatching -OMIM:615728 pachyonychia congenita 4 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching -OMIM:615728 pachyonychia congenita 4 skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching -OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:29158 semapv:UnspecifiedMatching -OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:SBNO2 semapv:UnspecifiedMatching -OMIM:615729 SBNO2 skos:exactMatch ncbigene:22904 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch UMLS:C1426078 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:19190 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:DOCK7 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch ncbigene:85440 semapv:UnspecifiedMatching -OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:16385 semapv:UnspecifiedMatching -OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:NSUN5 semapv:UnspecifiedMatching -OMIM:615732 NSUN5 skos:exactMatch ncbigene:55695 semapv:UnspecifiedMatching -OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:16405 semapv:UnspecifiedMatching -OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:BUD23 semapv:UnspecifiedMatching -OMIM:615733 BUD23 skos:exactMatch ncbigene:114049 semapv:UnspecifiedMatching -OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:29141 semapv:UnspecifiedMatching -OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:WDR47 semapv:UnspecifiedMatching -OMIM:615734 WDR47 skos:exactMatch ncbigene:22911 semapv:UnspecifiedMatching -OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:35454 semapv:UnspecifiedMatching -OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:ECSCR semapv:UnspecifiedMatching -OMIM:615736 ECSCR skos:exactMatch ncbigene:641700 semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch UMLS:C2681534 semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:32565 semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:IZUMO1R semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch ncbigene:390243 semapv:UnspecifiedMatching -OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:1172 semapv:UnspecifiedMatching -OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:VPS51 semapv:UnspecifiedMatching -OMIM:615738 VPS51 skos:exactMatch ncbigene:738 semapv:UnspecifiedMatching -OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:9223 semapv:UnspecifiedMatching -OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:POU5F1B semapv:UnspecifiedMatching -OMIM:615739 POU5F1B skos:exactMatch ncbigene:5462 semapv:UnspecifiedMatching -OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:19166 semapv:UnspecifiedMatching -OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:TBC1D5 semapv:UnspecifiedMatching -OMIM:615740 TBC1D5 skos:exactMatch ncbigene:9779 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch UMLS:C1537445 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:28969 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:DELE1 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch ncbigene:9812 semapv:UnspecifiedMatching -OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:21965 semapv:UnspecifiedMatching -OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:RGP1 semapv:UnspecifiedMatching -OMIM:615742 RGP1 skos:exactMatch ncbigene:9827 semapv:UnspecifiedMatching -OMIM:615743 SETD5 skos:exactMatch UMLS:C1822689 semapv:UnspecifiedMatching -OMIM:615743 SETD5 skos:exactMatch UMLS:C3810406 semapv:UnspecifiedMatching -OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:25566 semapv:UnspecifiedMatching -OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:SETD5 semapv:UnspecifiedMatching -OMIM:615743 SETD5 skos:exactMatch ncbigene:55209 semapv:UnspecifiedMatching -OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching -OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching -OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:28160 semapv:UnspecifiedMatching -OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:ZXDC semapv:UnspecifiedMatching -OMIM:615746 ZXDC skos:exactMatch ncbigene:79364 semapv:UnspecifiedMatching -OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:1820 semapv:UnspecifiedMatching -OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:CEACAM8 semapv:UnspecifiedMatching -OMIM:615747 CEACAM8 skos:exactMatch ncbigene:1088 semapv:UnspecifiedMatching -OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:29174 semapv:UnspecifiedMatching -OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:WASHC4 semapv:UnspecifiedMatching -OMIM:615748 WASHC4 skos:exactMatch ncbigene:23325 semapv:UnspecifiedMatching -OMIM:615753 POM121 skos:exactMatch hgnc.symbol:19702 semapv:UnspecifiedMatching -OMIM:615753 POM121 skos:exactMatch hgnc.symbol:POM121 semapv:UnspecifiedMatching -OMIM:615753 POM121 skos:exactMatch ncbigene:9883 semapv:UnspecifiedMatching -OMIM:615754 POM121C skos:exactMatch hgnc.symbol:34005 semapv:UnspecifiedMatching -OMIM:615754 POM121C skos:exactMatch hgnc.symbol:POM121C semapv:UnspecifiedMatching -OMIM:615754 POM121C skos:exactMatch ncbigene:100101267 semapv:UnspecifiedMatching -OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:29980 semapv:UnspecifiedMatching -OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:FOXR1 semapv:UnspecifiedMatching -OMIM:615755 FOXR1 skos:exactMatch ncbigene:283150 semapv:UnspecifiedMatching -OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:28997 semapv:UnspecifiedMatching -OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:SECISBP2L semapv:UnspecifiedMatching -OMIM:615756 SECISBP2L skos:exactMatch ncbigene:9728 semapv:UnspecifiedMatching -OMIM:615757 KIZ skos:exactMatch hgnc.symbol:15865 semapv:UnspecifiedMatching -OMIM:615757 KIZ skos:exactMatch hgnc.symbol:KIZ semapv:UnspecifiedMatching -OMIM:615757 KIZ skos:exactMatch ncbigene:55857 semapv:UnspecifiedMatching -OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:29508 semapv:UnspecifiedMatching -OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:KIDINS220 semapv:UnspecifiedMatching -OMIM:615759 KIDINS220 skos:exactMatch ncbigene:57498 semapv:UnspecifiedMatching -OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:33862 semapv:UnspecifiedMatching -OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:GRXCR2 semapv:UnspecifiedMatching -OMIM:615762 GRXCR2 skos:exactMatch ncbigene:643226 semapv:UnspecifiedMatching -OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:37824 semapv:UnspecifiedMatching -OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:LSINCT5 semapv:UnspecifiedMatching -OMIM:615764 LSINCT5 skos:exactMatch ncbigene:101234261 semapv:UnspecifiedMatching -OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:23093 semapv:UnspecifiedMatching -OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:SLC16A11 semapv:UnspecifiedMatching -OMIM:615765 SLC16A11 skos:exactMatch ncbigene:162515 semapv:UnspecifiedMatching -OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:29121 semapv:UnspecifiedMatching -OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:MTCL1 semapv:UnspecifiedMatching -OMIM:615766 MTCL1 skos:exactMatch ncbigene:23255 semapv:UnspecifiedMatching -OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch Orphanet:412057 semapv:UnspecifiedMatching -OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch UMLS:C4014261 semapv:UnspecifiedMatching -OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:29138 semapv:UnspecifiedMatching -OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:FAM169A semapv:UnspecifiedMatching -OMIM:615769 FAM169A skos:exactMatch ncbigene:26049 semapv:UnspecifiedMatching -OMIM:615772 WFDC21P skos:exactMatch UMLS:C3891272 semapv:UnspecifiedMatching -OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:50357 semapv:UnspecifiedMatching -OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:WFDC21P semapv:UnspecifiedMatching -OMIM:615772 WFDC21P skos:exactMatch ncbigene:645638 semapv:UnspecifiedMatching -OMIM:615773 SDHAF3 skos:exactMatch UMLS:C1427742 semapv:UnspecifiedMatching -OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:21752 semapv:UnspecifiedMatching -OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:SDHAF3 semapv:UnspecifiedMatching -OMIM:615773 SDHAF3 skos:exactMatch ncbigene:57001 semapv:UnspecifiedMatching -OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch Orphanet:404466 semapv:UnspecifiedMatching -OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching -OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:35245 semapv:UnspecifiedMatching -OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:SYCE3 semapv:UnspecifiedMatching -OMIM:615775 SYCE3 skos:exactMatch ncbigene:644186 semapv:UnspecifiedMatching -OMIM:615776 CROCC skos:exactMatch hgnc.symbol:21299 semapv:UnspecifiedMatching -OMIM:615776 CROCC skos:exactMatch hgnc.symbol:CROCC semapv:UnspecifiedMatching -OMIM:615776 CROCC skos:exactMatch ncbigene:9696 semapv:UnspecifiedMatching -OMIM:615777 desbuquois dysplasia 2 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching -OMIM:615777 desbuquois dysplasia 2 skos:exactMatch UMLS:C4014294 semapv:UnspecifiedMatching -OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:2036 semapv:UnspecifiedMatching -OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:CLDN15 semapv:UnspecifiedMatching -OMIM:615778 CLDN15 skos:exactMatch ncbigene:24146 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:98722 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99067 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99068 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch UMLS:C1425929 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:18971 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:AP1S3 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch ncbigene:130340 semapv:UnspecifiedMatching -OMIM:615782 CIART skos:exactMatch hgnc.symbol:25200 semapv:UnspecifiedMatching -OMIM:615782 CIART skos:exactMatch hgnc.symbol:CIART semapv:UnspecifiedMatching -OMIM:615782 CIART skos:exactMatch ncbigene:148523 semapv:UnspecifiedMatching -OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:22030 semapv:UnspecifiedMatching -OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:NAT16 semapv:UnspecifiedMatching -OMIM:615783 NAT16 skos:exactMatch ncbigene:375607 semapv:UnspecifiedMatching -OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:4559 semapv:UnspecifiedMatching -OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:GPX7 semapv:UnspecifiedMatching -OMIM:615784 GPX7 skos:exactMatch ncbigene:2882 semapv:UnspecifiedMatching -OMIM:615785 white sponge nevus 2 skos:exactMatch Orphanet:171723 semapv:UnspecifiedMatching -OMIM:615785 white sponge nevus 2 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching -OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:23846 semapv:UnspecifiedMatching -OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:NACC2 semapv:UnspecifiedMatching -OMIM:615786 NACC2 skos:exactMatch ncbigene:138151 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch UMLS:C3471268 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch UMLS:C5394591 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:26404 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:NADK2 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch ncbigene:133686 semapv:UnspecifiedMatching -OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:26916 semapv:UnspecifiedMatching -OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:N4BP2L2 semapv:UnspecifiedMatching -OMIM:615788 N4BP2L2 skos:exactMatch ncbigene:10443 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch UMLS:C1826617 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:25230 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:AHDC1 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch ncbigene:27245 semapv:UnspecifiedMatching -OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:26194 semapv:UnspecifiedMatching -OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:NUDT18 semapv:UnspecifiedMatching -OMIM:615791 NUDT18 skos:exactMatch ncbigene:79873 semapv:UnspecifiedMatching -OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:23063 semapv:UnspecifiedMatching -OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:NUDT15 semapv:UnspecifiedMatching -OMIM:615792 NUDT15 skos:exactMatch ncbigene:55270 semapv:UnspecifiedMatching -OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:16213 semapv:UnspecifiedMatching -OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:ISM1 semapv:UnspecifiedMatching -OMIM:615793 ISM1 skos:exactMatch ncbigene:140862 semapv:UnspecifiedMatching -OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:20296 semapv:UnspecifiedMatching -OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:FNDC3A semapv:UnspecifiedMatching -OMIM:615794 FNDC3A skos:exactMatch ncbigene:22862 semapv:UnspecifiedMatching -OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:21674 semapv:UnspecifiedMatching -OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:FSIP1 semapv:UnspecifiedMatching -OMIM:615795 FSIP1 skos:exactMatch ncbigene:161835 semapv:UnspecifiedMatching -OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:21675 semapv:UnspecifiedMatching -OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:FSIP2 semapv:UnspecifiedMatching -OMIM:615796 FSIP2 skos:exactMatch ncbigene:401024 semapv:UnspecifiedMatching -OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:21243 semapv:UnspecifiedMatching -OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:HCG9 semapv:UnspecifiedMatching -OMIM:615797 HCG9 skos:exactMatch ncbigene:10255 semapv:UnspecifiedMatching -OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:2048 semapv:UnspecifiedMatching -OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:CLDN6 semapv:UnspecifiedMatching -OMIM:615798 CLDN6 skos:exactMatch ncbigene:9074 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch UMLS:C1413479 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:2051 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:CLDN9 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch ncbigene:9080 semapv:UnspecifiedMatching -OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:3961 semapv:UnspecifiedMatching -OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:FSCN3 semapv:UnspecifiedMatching -OMIM:615800 FSCN3 skos:exactMatch ncbigene:29999 semapv:UnspecifiedMatching -OMIM:615804 URAD skos:exactMatch hgnc.symbol:17785 semapv:UnspecifiedMatching -OMIM:615804 URAD skos:exactMatch hgnc.symbol:URAD semapv:UnspecifiedMatching -OMIM:615804 URAD skos:exactMatch ncbigene:646625 semapv:UnspecifiedMatching -OMIM:615805 URAHP skos:exactMatch hgnc.symbol:43695 semapv:UnspecifiedMatching -OMIM:615805 URAHP skos:exactMatch hgnc.symbol:URAHP semapv:UnspecifiedMatching -OMIM:615805 URAHP skos:exactMatch ncbigene:100130015 semapv:UnspecifiedMatching -OMIM:615806 SLC15A4 skos:exactMatch UMLS:C1427907 semapv:UnspecifiedMatching -OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:23090 semapv:UnspecifiedMatching -OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:SLC15A4 semapv:UnspecifiedMatching -OMIM:615806 SLC15A4 skos:exactMatch ncbigene:121260 semapv:UnspecifiedMatching -OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:26932 semapv:UnspecifiedMatching -OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:TMA7 semapv:UnspecifiedMatching -OMIM:615808 TMA7 skos:exactMatch ncbigene:51372 semapv:UnspecifiedMatching -OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:30204 semapv:UnspecifiedMatching -OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:C11orf54 semapv:UnspecifiedMatching -OMIM:615810 C11ORF54 skos:exactMatch ncbigene:28970 semapv:UnspecifiedMatching -OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:9262 semapv:UnspecifiedMatching -OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:PPIL3 semapv:UnspecifiedMatching -OMIM:615811 PPIL3 skos:exactMatch ncbigene:53938 semapv:UnspecifiedMatching -OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:25524 semapv:UnspecifiedMatching -OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:FAM193B semapv:UnspecifiedMatching -OMIM:615813 FAM193B skos:exactMatch ncbigene:54540 semapv:UnspecifiedMatching -OMIM:615814 STYX skos:exactMatch hgnc.symbol:11447 semapv:UnspecifiedMatching -OMIM:615814 STYX skos:exactMatch hgnc.symbol:STYX semapv:UnspecifiedMatching -OMIM:615814 STYX skos:exactMatch ncbigene:6815 semapv:UnspecifiedMatching -OMIM:615815 SENCR skos:exactMatch hgnc.symbol:44177 semapv:UnspecifiedMatching -OMIM:615815 SENCR skos:exactMatch hgnc.symbol:SENCR semapv:UnspecifiedMatching -OMIM:615815 SENCR skos:exactMatch ncbigene:100507392 semapv:UnspecifiedMatching -OMIM:615816 immunodeficiency 23 skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching -OMIM:615816 immunodeficiency 23 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching -OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:29030 semapv:UnspecifiedMatching -OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:RRP8 semapv:UnspecifiedMatching -OMIM:615818 RRP8 skos:exactMatch ncbigene:23378 semapv:UnspecifiedMatching -OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:30004 semapv:UnspecifiedMatching -OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:SULT1A4 semapv:UnspecifiedMatching -OMIM:615819 SULT1A4 skos:exactMatch ncbigene:445329 semapv:UnspecifiedMatching -OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:24891 semapv:UnspecifiedMatching -OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:DCAF8 semapv:UnspecifiedMatching -OMIM:615820 DCAF8 skos:exactMatch ncbigene:50717 semapv:UnspecifiedMatching -OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch Orphanet:65282 semapv:UnspecifiedMatching -OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch UMLS:C4014393 semapv:UnspecifiedMatching -OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:20922 semapv:UnspecifiedMatching -OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:SLX1A semapv:UnspecifiedMatching -OMIM:615822 SLX1A skos:exactMatch ncbigene:548593 semapv:UnspecifiedMatching -OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:28748 semapv:UnspecifiedMatching -OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:SLX1B semapv:UnspecifiedMatching -OMIM:615823 SLX1B skos:exactMatch ncbigene:79008 semapv:UnspecifiedMatching -OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:30667 semapv:UnspecifiedMatching -OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:SUSD2 semapv:UnspecifiedMatching -OMIM:615825 SUSD2 skos:exactMatch ncbigene:56241 semapv:UnspecifiedMatching -OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:28070 semapv:UnspecifiedMatching -OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:STPG1 semapv:UnspecifiedMatching -OMIM:615826 STPG1 skos:exactMatch ncbigene:90529 semapv:UnspecifiedMatching -OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:25470 semapv:UnspecifiedMatching -OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:SUSD4 semapv:UnspecifiedMatching -OMIM:615827 SUSD4 skos:exactMatch ncbigene:55061 semapv:UnspecifiedMatching -OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching -OMIM:615829 xia-gibbs syndrome skos:exactMatch Orphanet:412069 semapv:UnspecifiedMatching -OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching -OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C5436345 semapv:UnspecifiedMatching -OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch Orphanet:189439 semapv:UnspecifiedMatching -OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching -OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:28072 semapv:UnspecifiedMatching -OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:LYRM7 semapv:UnspecifiedMatching -OMIM:615831 LYRM7 skos:exactMatch ncbigene:90624 semapv:UnspecifiedMatching -OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:37269 semapv:UnspecifiedMatching -OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:UBE2QL1 semapv:UnspecifiedMatching -OMIM:615832 UBE2QL1 skos:exactMatch ncbigene:134111 semapv:UnspecifiedMatching -OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching -OMIM:615836 STK38L skos:exactMatch hgnc.symbol:17848 semapv:UnspecifiedMatching -OMIM:615836 STK38L skos:exactMatch hgnc.symbol:STK38L semapv:UnspecifiedMatching -OMIM:615836 STK38L skos:exactMatch ncbigene:23012 semapv:UnspecifiedMatching -OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:2754 semapv:UnspecifiedMatching -OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:DECR2 semapv:UnspecifiedMatching -OMIM:615839 DECR2 skos:exactMatch ncbigene:26063 semapv:UnspecifiedMatching -OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:28777 semapv:UnspecifiedMatching -OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:DCTPP1 semapv:UnspecifiedMatching -OMIM:615840 DCTPP1 skos:exactMatch ncbigene:79077 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch UMLS:C1539265 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:13709 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:DEGS1 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch ncbigene:8560 semapv:UnspecifiedMatching -OMIM:615844 TKFC skos:exactMatch UMLS:C1824882 semapv:UnspecifiedMatching -OMIM:615844 TKFC skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching -OMIM:615844 TKFC skos:exactMatch hgnc.symbol:24552 semapv:UnspecifiedMatching -OMIM:615844 TKFC skos:exactMatch hgnc.symbol:TKFC semapv:UnspecifiedMatching -OMIM:615844 TKFC skos:exactMatch ncbigene:26007 semapv:UnspecifiedMatching -OMIM:615845 MIR190A skos:exactMatch hgnc.symbol:31560 semapv:UnspecifiedMatching -OMIM:615845 MIR190A skos:exactMatch hgnc.symbol:MIR190A semapv:UnspecifiedMatching -OMIM:615845 MIR190A skos:exactMatch ncbigene:406965 semapv:UnspecifiedMatching -OMIM:615847 CEP83 skos:exactMatch UMLS:C1824565 semapv:UnspecifiedMatching -OMIM:615847 CEP83 skos:exactMatch UMLS:C3890591 semapv:UnspecifiedMatching -OMIM:615847 CEP83 skos:exactMatch hgnc.symbol:17966 semapv:UnspecifiedMatching -OMIM:615847 CEP83 skos:exactMatch hgnc.symbol:CEP83 semapv:UnspecifiedMatching -OMIM:615847 CEP83 skos:exactMatch ncbigene:51134 semapv:UnspecifiedMatching -OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:25608 semapv:UnspecifiedMatching -OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:VPS53 semapv:UnspecifiedMatching -OMIM:615850 VPS53 skos:exactMatch ncbigene:55275 semapv:UnspecifiedMatching -OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:14902 semapv:UnspecifiedMatching -OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:RAB6B semapv:UnspecifiedMatching -OMIM:615852 RAB6B skos:exactMatch ncbigene:51560 semapv:UnspecifiedMatching -OMIM:615853 PAOX skos:exactMatch hgnc.symbol:20837 semapv:UnspecifiedMatching -OMIM:615853 PAOX skos:exactMatch hgnc.symbol:PAOX semapv:UnspecifiedMatching -OMIM:615853 PAOX skos:exactMatch ncbigene:196743 semapv:UnspecifiedMatching -OMIM:615854 SMOX skos:exactMatch hgnc.symbol:15862 semapv:UnspecifiedMatching -OMIM:615854 SMOX skos:exactMatch hgnc.symbol:SMOX semapv:UnspecifiedMatching -OMIM:615854 SMOX skos:exactMatch ncbigene:54498 semapv:UnspecifiedMatching -OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:24099 semapv:UnspecifiedMatching -OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:TMTC1 semapv:UnspecifiedMatching -OMIM:615855 TMTC1 skos:exactMatch ncbigene:83857 semapv:UnspecifiedMatching -OMIM:615856 TMTC2 skos:exactMatch hgnc.symbol:25440 semapv:UnspecifiedMatching -OMIM:615856 TMTC2 skos:exactMatch hgnc.symbol:TMTC2 semapv:UnspecifiedMatching -OMIM:615856 TMTC2 skos:exactMatch ncbigene:160335 semapv:UnspecifiedMatching -OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:25585 semapv:UnspecifiedMatching -OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:OGFOD1 semapv:UnspecifiedMatching -OMIM:615857 OGFOD1 skos:exactMatch ncbigene:55239 semapv:UnspecifiedMatching -OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:25642 semapv:UnspecifiedMatching -OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:RSBN1 semapv:UnspecifiedMatching -OMIM:615858 RSBN1 skos:exactMatch ncbigene:54665 semapv:UnspecifiedMatching -OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch Orphanet:411986 semapv:UnspecifiedMatching -OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching -OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:26244 semapv:UnspecifiedMatching -OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:CEP97 semapv:UnspecifiedMatching -OMIM:615864 CEP97 skos:exactMatch ncbigene:79598 semapv:UnspecifiedMatching -OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:34410 semapv:UnspecifiedMatching -OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:NEURL4 semapv:UnspecifiedMatching -OMIM:615865 NEURL4 skos:exactMatch ncbigene:84461 semapv:UnspecifiedMatching -OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching -OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching -OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:21485 semapv:UnspecifiedMatching -OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:TBC1D32 semapv:UnspecifiedMatching -OMIM:615867 TBC1D32 skos:exactMatch ncbigene:221322 semapv:UnspecifiedMatching -OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:29486 semapv:UnspecifiedMatching -OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:SPINK6 semapv:UnspecifiedMatching -OMIM:615868 SPINK6 skos:exactMatch ncbigene:404203 semapv:UnspecifiedMatching -OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:28279 semapv:UnspecifiedMatching -OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:TNFAIP8L1 semapv:UnspecifiedMatching -OMIM:615869 TNFAIP8L1 skos:exactMatch ncbigene:126282 semapv:UnspecifiedMatching -OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:18626 semapv:UnspecifiedMatching -OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:IFT27 semapv:UnspecifiedMatching -OMIM:615870 IFT27 skos:exactMatch ncbigene:11020 semapv:UnspecifiedMatching -OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching -OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:24534 semapv:UnspecifiedMatching -OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:RSL1D1 semapv:UnspecifiedMatching -OMIM:615874 RSL1D1 skos:exactMatch ncbigene:26156 semapv:UnspecifiedMatching -OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:21393 semapv:UnspecifiedMatching -OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:RWDD3 semapv:UnspecifiedMatching -OMIM:615875 RWDD3 skos:exactMatch ncbigene:25950 semapv:UnspecifiedMatching -OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:21054 semapv:UnspecifiedMatching -OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:RSPH3 semapv:UnspecifiedMatching -OMIM:615876 RSPH3 skos:exactMatch ncbigene:83861 semapv:UnspecifiedMatching -OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching -OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching -OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:29351 semapv:UnspecifiedMatching -OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:ARHGAP39 semapv:UnspecifiedMatching -OMIM:615880 ARHGAP39 skos:exactMatch ncbigene:80728 semapv:UnspecifiedMatching -OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:17155 semapv:UnspecifiedMatching -OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:RABGAP1 semapv:UnspecifiedMatching -OMIM:615882 RABGAP1 skos:exactMatch ncbigene:23637 semapv:UnspecifiedMatching -OMIM:615884 APMAP skos:exactMatch hgnc.symbol:13238 semapv:UnspecifiedMatching -OMIM:615884 APMAP skos:exactMatch hgnc.symbol:APMAP semapv:UnspecifiedMatching -OMIM:615884 APMAP skos:exactMatch ncbigene:57136 semapv:UnspecifiedMatching -OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:32554 semapv:UnspecifiedMatching -OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:FAM83G semapv:UnspecifiedMatching -OMIM:615886 FAM83G skos:exactMatch ncbigene:644815 semapv:UnspecifiedMatching -OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:18745 semapv:UnspecifiedMatching -OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:DYNC1LI1 semapv:UnspecifiedMatching -OMIM:615890 DYNC1LI1 skos:exactMatch ncbigene:51143 semapv:UnspecifiedMatching -OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:24094 semapv:UnspecifiedMatching -OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:ZBTB8OS semapv:UnspecifiedMatching -OMIM:615891 ZBTB8OS skos:exactMatch ncbigene:339487 semapv:UnspecifiedMatching -OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:35422 semapv:UnspecifiedMatching -OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:NEURL1B semapv:UnspecifiedMatching -OMIM:615893 NEURL1B skos:exactMatch ncbigene:54492 semapv:UnspecifiedMatching -OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:19904 semapv:UnspecifiedMatching -OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:ZNF407 semapv:UnspecifiedMatching -OMIM:615894 ZNF407 skos:exactMatch ncbigene:55628 semapv:UnspecifiedMatching -OMIM:615898 NDUFAF7 skos:exactMatch UMLS:C2240250 semapv:UnspecifiedMatching -OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:28816 semapv:UnspecifiedMatching -OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:NDUFAF7 semapv:UnspecifiedMatching -OMIM:615898 NDUFAF7 skos:exactMatch ncbigene:55471 semapv:UnspecifiedMatching -OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:27270 semapv:UnspecifiedMatching -OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:OLFML2A semapv:UnspecifiedMatching -OMIM:615899 OLFML2A skos:exactMatch ncbigene:169611 semapv:UnspecifiedMatching -OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:26147 semapv:UnspecifiedMatching -OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:AGBL5 semapv:UnspecifiedMatching -OMIM:615900 AGBL5 skos:exactMatch ncbigene:60509 semapv:UnspecifiedMatching -OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:33739 semapv:UnspecifiedMatching -OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:NCCRP1 semapv:UnspecifiedMatching -OMIM:615901 NCCRP1 skos:exactMatch ncbigene:342897 semapv:UnspecifiedMatching -OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:17485 semapv:UnspecifiedMatching -OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:PPP2R3C semapv:UnspecifiedMatching -OMIM:615902 PPP2R3C skos:exactMatch ncbigene:55012 semapv:UnspecifiedMatching -OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:15559 semapv:UnspecifiedMatching -OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:CHCHD10 semapv:UnspecifiedMatching -OMIM:615903 CHCHD10 skos:exactMatch ncbigene:400916 semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch UMLS:C1826746 semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:26359 semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:PXDNL semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch ncbigene:137902 semapv:UnspecifiedMatching -OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching -OMIM:615906 OBI1 skos:exactMatch UMLS:C1426846 semapv:UnspecifiedMatching -OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:20308 semapv:UnspecifiedMatching -OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:OBI1 semapv:UnspecifiedMatching -OMIM:615906 OBI1 skos:exactMatch ncbigene:79596 semapv:UnspecifiedMatching -OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:32108 semapv:UnspecifiedMatching -OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:MIR520C semapv:UnspecifiedMatching -OMIM:615908 MIR520C skos:exactMatch ncbigene:574476 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch UMLS:C2681323 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch hgnc.symbol:25576 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch hgnc.symbol:NAXD semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch ncbigene:55739 semapv:UnspecifiedMatching -OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:25806 semapv:UnspecifiedMatching -OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:GSTCD semapv:UnspecifiedMatching -OMIM:615912 GSTCD skos:exactMatch ncbigene:79807 semapv:UnspecifiedMatching -OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:21408 semapv:UnspecifiedMatching -OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:PM20D2 semapv:UnspecifiedMatching -OMIM:615913 PM20D2 skos:exactMatch ncbigene:135293 semapv:UnspecifiedMatching -OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:24325 semapv:UnspecifiedMatching -OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:CDKN2AIP semapv:UnspecifiedMatching -OMIM:615914 CDKN2AIP skos:exactMatch ncbigene:55602 semapv:UnspecifiedMatching -OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:27022 semapv:UnspecifiedMatching -OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:ZPLD1 semapv:UnspecifiedMatching -OMIM:615915 ZPLD1 skos:exactMatch ncbigene:131368 semapv:UnspecifiedMatching -OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch Orphanet:420728 semapv:UnspecifiedMatching -OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching -OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:25619 semapv:UnspecifiedMatching -OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:PRR11 semapv:UnspecifiedMatching -OMIM:615920 PRR11 skos:exactMatch ncbigene:55771 semapv:UnspecifiedMatching -OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:28208 semapv:UnspecifiedMatching -OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:PERM1 semapv:UnspecifiedMatching -OMIM:615921 PERM1 skos:exactMatch ncbigene:84808 semapv:UnspecifiedMatching -OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:27051 semapv:UnspecifiedMatching -OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:RFLNA semapv:UnspecifiedMatching -OMIM:615927 RFLNA skos:exactMatch ncbigene:144347 semapv:UnspecifiedMatching -OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:28705 semapv:UnspecifiedMatching -OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:RFLNB semapv:UnspecifiedMatching -OMIM:615928 RFLNB skos:exactMatch ncbigene:359845 semapv:UnspecifiedMatching -OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:23575 semapv:UnspecifiedMatching -OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:ANKRD17 semapv:UnspecifiedMatching -OMIM:615929 ANKRD17 skos:exactMatch ncbigene:26057 semapv:UnspecifiedMatching -OMIM:615930 CAHM skos:exactMatch hgnc.symbol:42860 semapv:UnspecifiedMatching -OMIM:615930 CAHM skos:exactMatch hgnc.symbol:CAHM semapv:UnspecifiedMatching -OMIM:615930 CAHM skos:exactMatch ncbigene:100526820 semapv:UnspecifiedMatching -OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:29654 semapv:UnspecifiedMatching -OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:PRR16 semapv:UnspecifiedMatching -OMIM:615931 PRR16 skos:exactMatch ncbigene:51334 semapv:UnspecifiedMatching -OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:21052 semapv:UnspecifiedMatching -OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:KCTD20 semapv:UnspecifiedMatching -OMIM:615932 KCTD20 skos:exactMatch ncbigene:222658 semapv:UnspecifiedMatching -OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:21445 semapv:UnspecifiedMatching -OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:BTBD10 semapv:UnspecifiedMatching -OMIM:615933 BTBD10 skos:exactMatch ncbigene:84280 semapv:UnspecifiedMatching -OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:26545 semapv:UnspecifiedMatching -OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:ARHGAP42 semapv:UnspecifiedMatching -OMIM:615936 ARHGAP42 skos:exactMatch ncbigene:143872 semapv:UnspecifiedMatching -OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch Orphanet:83473 semapv:UnspecifiedMatching -OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch UMLS:C4014738 semapv:UnspecifiedMatching -OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:9640 semapv:UnspecifiedMatching -OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:HACD2 semapv:UnspecifiedMatching -OMIM:615939 PTPLB skos:exactMatch ncbigene:201562 semapv:UnspecifiedMatching -OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:24175 semapv:UnspecifiedMatching -OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:HACD3 semapv:UnspecifiedMatching -OMIM:615940 PTPLAD1 skos:exactMatch ncbigene:51495 semapv:UnspecifiedMatching -OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:20920 semapv:UnspecifiedMatching -OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:HACD4 semapv:UnspecifiedMatching -OMIM:615941 PTPLAD2 skos:exactMatch ncbigene:401494 semapv:UnspecifiedMatching -OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:29647 semapv:UnspecifiedMatching -OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:MAGI3 semapv:UnspecifiedMatching -OMIM:615943 MAGI3 skos:exactMatch ncbigene:260425 semapv:UnspecifiedMatching -OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:24564 semapv:UnspecifiedMatching -OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:C2CD3 semapv:UnspecifiedMatching -OMIM:615944 C2CD3 skos:exactMatch ncbigene:26005 semapv:UnspecifiedMatching -OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch Orphanet:363710 semapv:UnspecifiedMatching -OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch UMLS:C3889636 semapv:UnspecifiedMatching -OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:24529 semapv:UnspecifiedMatching -OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:TMEM98 semapv:UnspecifiedMatching -OMIM:615949 TMEM98 skos:exactMatch ncbigene:26022 semapv:UnspecifiedMatching -OMIM:615950 SPEG skos:exactMatch hgnc.symbol:16901 semapv:UnspecifiedMatching -OMIM:615950 SPEG skos:exactMatch hgnc.symbol:SPEG semapv:UnspecifiedMatching -OMIM:615950 SPEG skos:exactMatch ncbigene:10290 semapv:UnspecifiedMatching -OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:29316 semapv:UnspecifiedMatching -OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:ZSWIM6 semapv:UnspecifiedMatching -OMIM:615951 ZSWIM6 skos:exactMatch ncbigene:57688 semapv:UnspecifiedMatching -OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:28236 semapv:UnspecifiedMatching -OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:CCDC183 semapv:UnspecifiedMatching -OMIM:615955 CCDC183 skos:exactMatch ncbigene:84960 semapv:UnspecifiedMatching -OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:28303 semapv:UnspecifiedMatching -OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:ODAD3 semapv:UnspecifiedMatching -OMIM:615956 ODAD3 skos:exactMatch ncbigene:115948 semapv:UnspecifiedMatching -OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:16225 semapv:UnspecifiedMatching -OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:SLX4IP semapv:UnspecifiedMatching -OMIM:615958 SLX4IP skos:exactMatch ncbigene:128710 semapv:UnspecifiedMatching -OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:1274 semapv:UnspecifiedMatching -OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:MIR99AHG semapv:UnspecifiedMatching -OMIM:615964 MIR99AHG skos:exactMatch ncbigene:388815 semapv:UnspecifiedMatching -OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:39522 semapv:UnspecifiedMatching -OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:MIR100HG semapv:UnspecifiedMatching -OMIM:615965 MIR100HG skos:exactMatch ncbigene:399959 semapv:UnspecifiedMatching -OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch Orphanet:317425 semapv:UnspecifiedMatching -OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch UMLS:C4014833 semapv:UnspecifiedMatching -OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:20243 semapv:UnspecifiedMatching -OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:CYP2W1 semapv:UnspecifiedMatching -OMIM:615967 CYP2W1 skos:exactMatch ncbigene:54905 semapv:UnspecifiedMatching -OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:32684 semapv:UnspecifiedMatching -OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:MYCNUT semapv:UnspecifiedMatching -OMIM:615968 MYCNUT skos:exactMatch ncbigene:103752554 semapv:UnspecifiedMatching -OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:25137 semapv:UnspecifiedMatching -OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:TMEM129 semapv:UnspecifiedMatching -OMIM:615975 TMEM129 skos:exactMatch ncbigene:92305 semapv:UnspecifiedMatching -OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:50650 semapv:UnspecifiedMatching -OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:FOXCUT semapv:UnspecifiedMatching -OMIM:615976 FOXCUT skos:exactMatch ncbigene:101927703 semapv:UnspecifiedMatching -OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:31776 semapv:UnspecifiedMatching -OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:MIR339 semapv:UnspecifiedMatching -OMIM:615977 MIR339 skos:exactMatch ncbigene:442907 semapv:UnspecifiedMatching -OMIM:615978 immunodeficiency 27b skos:exactMatch Orphanet:319581 semapv:UnspecifiedMatching -OMIM:615978 immunodeficiency 27b skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching -OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching -OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching -OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:18099 semapv:UnspecifiedMatching -OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:DEFB119 semapv:UnspecifiedMatching -OMIM:615997 DEFB119 skos:exactMatch ncbigene:245932 semapv:UnspecifiedMatching -OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:10055 semapv:UnspecifiedMatching -OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:RNF10 semapv:UnspecifiedMatching -OMIM:615998 RNF10 skos:exactMatch ncbigene:9921 semapv:UnspecifiedMatching -OMIM:616003 APOPT1 skos:exactMatch UMLS:C3471496 semapv:UnspecifiedMatching -OMIM:616003 APOPT1 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching -OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:20492 semapv:UnspecifiedMatching -OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:COA8 semapv:UnspecifiedMatching -OMIM:616003 APOPT1 skos:exactMatch ncbigene:84334 semapv:UnspecifiedMatching -OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:16702 semapv:UnspecifiedMatching -OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:COPS4 semapv:UnspecifiedMatching -OMIM:616008 COPS4 skos:exactMatch ncbigene:51138 semapv:UnspecifiedMatching -OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:16758 semapv:UnspecifiedMatching -OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:COPS7A semapv:UnspecifiedMatching -OMIM:616009 COPS7A skos:exactMatch ncbigene:50813 semapv:UnspecifiedMatching -OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:16760 semapv:UnspecifiedMatching -OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:COPS7B semapv:UnspecifiedMatching -OMIM:616010 COPS7B skos:exactMatch ncbigene:64708 semapv:UnspecifiedMatching -OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:24335 semapv:UnspecifiedMatching -OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:COPS8 semapv:UnspecifiedMatching -OMIM:616011 COPS8 skos:exactMatch ncbigene:10920 semapv:UnspecifiedMatching -OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:26926 semapv:UnspecifiedMatching -OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:JAGN1 semapv:UnspecifiedMatching -OMIM:616012 JAGN1 skos:exactMatch ncbigene:84522 semapv:UnspecifiedMatching -OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:28403 semapv:UnspecifiedMatching -OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:TRMT10A semapv:UnspecifiedMatching -OMIM:616013 TRMT10A skos:exactMatch ncbigene:93587 semapv:UnspecifiedMatching -OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:14662 semapv:UnspecifiedMatching -OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:RNF25 semapv:UnspecifiedMatching -OMIM:616014 RNF25 skos:exactMatch ncbigene:64320 semapv:UnspecifiedMatching -OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:27752 semapv:UnspecifiedMatching -OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:RNF180 semapv:UnspecifiedMatching -OMIM:616015 RNF180 skos:exactMatch ncbigene:285671 semapv:UnspecifiedMatching -OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:18583 semapv:UnspecifiedMatching -OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:PPM1H semapv:UnspecifiedMatching -OMIM:616016 PPM1H skos:exactMatch ncbigene:57460 semapv:UnspecifiedMatching -OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:17857 semapv:UnspecifiedMatching -OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:TRIM69 semapv:UnspecifiedMatching -OMIM:616017 TRIM69 skos:exactMatch ncbigene:140691 semapv:UnspecifiedMatching -OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:27455 semapv:UnspecifiedMatching -OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:RCOR2 semapv:UnspecifiedMatching -OMIM:616019 RCOR2 skos:exactMatch ncbigene:283248 semapv:UnspecifiedMatching -OMIM:616020 CYYR1 skos:exactMatch hgnc.symbol:16274 semapv:UnspecifiedMatching -OMIM:616020 CYYR1 skos:exactMatch hgnc.symbol:CYYR1 semapv:UnspecifiedMatching -OMIM:616020 CYYR1 skos:exactMatch ncbigene:116159 semapv:UnspecifiedMatching -OMIM:616021 CYYR1AS1 skos:exactMatch hgnc.symbol:39560 semapv:UnspecifiedMatching -OMIM:616021 CYYR1AS1 skos:exactMatch hgnc.symbol:CYYR1-AS1 semapv:UnspecifiedMatching -OMIM:616021 CYYR1AS1 skos:exactMatch ncbigene:100996571 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch UMLS:C1426151 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:19304 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:SCAF4 semapv:UnspecifiedMatching -OMIM:616023 SCAF4 skos:exactMatch ncbigene:57466 semapv:UnspecifiedMatching -OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:20959 semapv:UnspecifiedMatching -OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:SCAF8 semapv:UnspecifiedMatching -OMIM:616024 SCAF8 skos:exactMatch ncbigene:22828 semapv:UnspecifiedMatching -OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching -OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch UMLS:C4014958 semapv:UnspecifiedMatching -OMIM:616027 ANLN skos:exactMatch hgnc.symbol:14082 semapv:UnspecifiedMatching -OMIM:616027 ANLN skos:exactMatch hgnc.symbol:ANLN semapv:UnspecifiedMatching -OMIM:616027 ANLN skos:exactMatch ncbigene:54443 semapv:UnspecifiedMatching -OMIM:616031 CCDC141 skos:exactMatch hgnc.symbol:26821 semapv:UnspecifiedMatching -OMIM:616031 CCDC141 skos:exactMatch hgnc.symbol:CCDC141 semapv:UnspecifiedMatching -OMIM:616031 CCDC141 skos:exactMatch ncbigene:285025 semapv:UnspecifiedMatching -OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch Orphanet:431361 semapv:UnspecifiedMatching -OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching -OMIM:616035 FOXJ3 skos:exactMatch hgnc.symbol:29178 semapv:UnspecifiedMatching -OMIM:616035 FOXJ3 skos:exactMatch hgnc.symbol:FOXJ3 semapv:UnspecifiedMatching -OMIM:616035 FOXJ3 skos:exactMatch ncbigene:22887 semapv:UnspecifiedMatching -OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:32084 semapv:UnspecifiedMatching -OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:MIR494 semapv:UnspecifiedMatching -OMIM:616036 MIR494 skos:exactMatch ncbigene:574452 semapv:UnspecifiedMatching -OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:35410 semapv:UnspecifiedMatching -OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:TSTD1 semapv:UnspecifiedMatching -OMIM:616041 TSTD1 skos:exactMatch ncbigene:100131187 semapv:UnspecifiedMatching -OMIM:616043 PCAT1 skos:exactMatch hgnc.symbol:43022 semapv:UnspecifiedMatching -OMIM:616043 PCAT1 skos:exactMatch hgnc.symbol:PCAT1 semapv:UnspecifiedMatching -OMIM:616043 PCAT1 skos:exactMatch ncbigene:100750225 semapv:UnspecifiedMatching -OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching -OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching -OMIM:616046 PSTPIP2 skos:exactMatch hgnc.symbol:9581 semapv:UnspecifiedMatching -OMIM:616046 PSTPIP2 skos:exactMatch hgnc.symbol:PSTPIP2 semapv:UnspecifiedMatching -OMIM:616046 PSTPIP2 skos:exactMatch ncbigene:9050 semapv:UnspecifiedMatching -OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:29276 semapv:UnspecifiedMatching -OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:CFAP97 semapv:UnspecifiedMatching -OMIM:616047 CFAP97 skos:exactMatch ncbigene:57587 semapv:UnspecifiedMatching -OMIM:616048 APTR skos:exactMatch hgnc.symbol:44173 semapv:UnspecifiedMatching -OMIM:616048 APTR skos:exactMatch hgnc.symbol:APTR semapv:UnspecifiedMatching -OMIM:616048 APTR skos:exactMatch ncbigene:100505854 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch UMLS:C1423699 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:15746 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:TOMM34 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch ncbigene:10953 semapv:UnspecifiedMatching -OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch Orphanet:352479 semapv:UnspecifiedMatching -OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching -OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:18248 semapv:UnspecifiedMatching -OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:ELP2 semapv:UnspecifiedMatching -OMIM:616054 ELP2 skos:exactMatch ncbigene:55250 semapv:UnspecifiedMatching -OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching -OMIM:616057 TUSC7 skos:exactMatch hgnc.symbol:27701 semapv:UnspecifiedMatching -OMIM:616057 TUSC7 skos:exactMatch hgnc.symbol:TUSC7 semapv:UnspecifiedMatching -OMIM:616057 TUSC7 skos:exactMatch ncbigene:285194 semapv:UnspecifiedMatching -OMIM:616058 TARID skos:exactMatch hgnc.symbol:50506 semapv:UnspecifiedMatching -OMIM:616058 TARID skos:exactMatch hgnc.symbol:TARID semapv:UnspecifiedMatching -OMIM:616058 TARID skos:exactMatch ncbigene:100507308 semapv:UnspecifiedMatching -OMIM:616061 MGA skos:exactMatch hgnc.symbol:14010 semapv:UnspecifiedMatching -OMIM:616061 MGA skos:exactMatch hgnc.symbol:MGA semapv:UnspecifiedMatching -OMIM:616061 MGA skos:exactMatch ncbigene:23269 semapv:UnspecifiedMatching -OMIM:616062 ANKLE2 skos:exactMatch UMLS:C2678596 semapv:UnspecifiedMatching -OMIM:616062 ANKLE2 skos:exactMatch UMLS:C4225249 semapv:UnspecifiedMatching -OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:29101 semapv:UnspecifiedMatching -OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:ANKLE2 semapv:UnspecifiedMatching -OMIM:616062 ANKLE2 skos:exactMatch ncbigene:23141 semapv:UnspecifiedMatching -OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:19168 semapv:UnspecifiedMatching -OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:TINAGL1 semapv:UnspecifiedMatching -OMIM:616064 TINAGL1 skos:exactMatch ncbigene:64129 semapv:UnspecifiedMatching -OMIM:616065 PIANP skos:exactMatch hgnc.symbol:25338 semapv:UnspecifiedMatching -OMIM:616065 PIANP skos:exactMatch hgnc.symbol:PIANP semapv:UnspecifiedMatching -OMIM:616065 PIANP skos:exactMatch ncbigene:196500 semapv:UnspecifiedMatching -OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:26026 semapv:UnspecifiedMatching -OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:SOHLH2 semapv:UnspecifiedMatching -OMIM:616066 SOHLH2 skos:exactMatch ncbigene:54937 semapv:UnspecifiedMatching -OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:43745 semapv:UnspecifiedMatching -OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:HOXA-AS2 semapv:UnspecifiedMatching -OMIM:616068 HOXAAS2 skos:exactMatch ncbigene:285943 semapv:UnspecifiedMatching -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching -OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CFAP263 semapv:UnspecifiedMatching -OMIM:616070 CCDC113 skos:exactMatch ncbigene:29070 semapv:UnspecifiedMatching -OMIM:616071 C7ORF31 skos:exactMatch hgnc.symbol:SPMIP4 semapv:UnspecifiedMatching -OMIM:616071 C7ORF31 skos:exactMatch ncbigene:136895 semapv:UnspecifiedMatching -OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:24973 semapv:UnspecifiedMatching -OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:HP1BP3 semapv:UnspecifiedMatching -OMIM:616072 HP1BP3 skos:exactMatch ncbigene:50809 semapv:UnspecifiedMatching -OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:24902 semapv:UnspecifiedMatching -OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:DEPDC1B semapv:UnspecifiedMatching -OMIM:616073 DEPDC1B skos:exactMatch ncbigene:55789 semapv:UnspecifiedMatching -OMIM:616074 CKLF skos:exactMatch hgnc.symbol:13253 semapv:UnspecifiedMatching -OMIM:616074 CKLF skos:exactMatch hgnc.symbol:CKLF semapv:UnspecifiedMatching -OMIM:616074 CKLF skos:exactMatch ncbigene:51192 semapv:UnspecifiedMatching -OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:18101 semapv:UnspecifiedMatching -OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:DEFB121 semapv:UnspecifiedMatching -OMIM:616075 DEFB121 skos:exactMatch ncbigene:245934 semapv:UnspecifiedMatching -OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:18103 semapv:UnspecifiedMatching -OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:DEFB123 semapv:UnspecifiedMatching -OMIM:616076 DEFB123 skos:exactMatch ncbigene:245936 semapv:UnspecifiedMatching -OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:18102 semapv:UnspecifiedMatching -OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:DEFB122 semapv:UnspecifiedMatching -OMIM:616077 DEFB122 skos:exactMatch ncbigene:245935 semapv:UnspecifiedMatching -OMIM:616082 C12ORF4 skos:exactMatch hgnc.symbol:FERRY3 semapv:UnspecifiedMatching -OMIM:616082 C12ORF4 skos:exactMatch ncbigene:57102 semapv:UnspecifiedMatching -OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:13102 semapv:UnspecifiedMatching -OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:ZNF37A semapv:UnspecifiedMatching -OMIM:616085 ZNF37A skos:exactMatch ncbigene:7587 semapv:UnspecifiedMatching -OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:25356 semapv:UnspecifiedMatching -OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:SPRTN semapv:UnspecifiedMatching -OMIM:616086 SPRTN skos:exactMatch ncbigene:83932 semapv:UnspecifiedMatching -OMIM:616087 iia 2 diabetes 5 skos:exactMatch UMLS:C4015183 semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch UMLS:C1823800 semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch hgnc.symbol:25341 semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch hgnc.symbol:RHEX semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch ncbigene:440712 semapv:UnspecifiedMatching -OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:33140 semapv:UnspecifiedMatching -OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:MIR802 semapv:UnspecifiedMatching -OMIM:616090 MIR802 skos:exactMatch ncbigene:768219 semapv:UnspecifiedMatching -OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:19280 semapv:UnspecifiedMatching -OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:METTL17 semapv:UnspecifiedMatching -OMIM:616091 METTL17 skos:exactMatch ncbigene:64745 semapv:UnspecifiedMatching -OMIM:616092 FALEC skos:exactMatch hgnc.symbol:43713 semapv:UnspecifiedMatching -OMIM:616092 FALEC skos:exactMatch hgnc.symbol:FALEC semapv:UnspecifiedMatching -OMIM:616092 FALEC skos:exactMatch ncbigene:100874054 semapv:UnspecifiedMatching -OMIM:616096 MHRT skos:exactMatch hgnc.symbol:51291 semapv:UnspecifiedMatching -OMIM:616096 MHRT skos:exactMatch hgnc.symbol:MHRT semapv:UnspecifiedMatching -OMIM:616096 MHRT skos:exactMatch ncbigene:104564225 semapv:UnspecifiedMatching -OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:34399 semapv:UnspecifiedMatching -OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:UQCC3 semapv:UnspecifiedMatching -OMIM:616097 UQCC3 skos:exactMatch ncbigene:790955 semapv:UnspecifiedMatching -OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:25186 semapv:UnspecifiedMatching -OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:TMEM240 semapv:UnspecifiedMatching -OMIM:616101 TMEM240 skos:exactMatch ncbigene:339453 semapv:UnspecifiedMatching -OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:24718 semapv:UnspecifiedMatching -OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:TMX3 semapv:UnspecifiedMatching -OMIM:616102 TMX3 skos:exactMatch ncbigene:54495 semapv:UnspecifiedMatching -OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:23404 semapv:UnspecifiedMatching -OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:LRIT1 semapv:UnspecifiedMatching -OMIM:616103 LRIT1 skos:exactMatch ncbigene:26103 semapv:UnspecifiedMatching -OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:13761 semapv:UnspecifiedMatching -OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:RBPJL semapv:UnspecifiedMatching -OMIM:616104 RBPJL skos:exactMatch ncbigene:11317 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch UMLS:C1423104 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:14977 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:SNX14 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch ncbigene:57231 semapv:UnspecifiedMatching -OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching -OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching -OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:26222 semapv:UnspecifiedMatching -OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:FAR1 semapv:UnspecifiedMatching -OMIM:616107 FAR1 skos:exactMatch ncbigene:84188 semapv:UnspecifiedMatching -OMIM:616109 C11ORF80 skos:exactMatch hgnc.symbol:TOP6BL semapv:UnspecifiedMatching -OMIM:616109 C11ORF80 skos:exactMatch ncbigene:79703 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch UMLS:C1428799 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:29151 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:DTX4 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch ncbigene:23220 semapv:UnspecifiedMatching -OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:6649 semapv:UnspecifiedMatching -OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:LMOD3 semapv:UnspecifiedMatching -OMIM:616112 LMOD3 skos:exactMatch ncbigene:56203 semapv:UnspecifiedMatching -OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:19057 semapv:UnspecifiedMatching -OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:CHD6 semapv:UnspecifiedMatching -OMIM:616114 CHD6 skos:exactMatch ncbigene:84181 semapv:UnspecifiedMatching -OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch Orphanet:436242 semapv:UnspecifiedMatching -OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch UMLS:C4015285 semapv:UnspecifiedMatching -OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:32325 semapv:UnspecifiedMatching -OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:CFAP126 semapv:UnspecifiedMatching -OMIM:616119 CFAP126 skos:exactMatch ncbigene:257177 semapv:UnspecifiedMatching -OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:25613 semapv:UnspecifiedMatching -OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:CWF19L1 semapv:UnspecifiedMatching -OMIM:616120 CWF19L1 skos:exactMatch ncbigene:55280 semapv:UnspecifiedMatching -OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:25813 semapv:UnspecifiedMatching -OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:GVINP1 semapv:UnspecifiedMatching -OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:28268 semapv:UnspecifiedMatching -OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:FAM86B1 semapv:UnspecifiedMatching -OMIM:616122 FAM86B1 skos:exactMatch ncbigene:85002 semapv:UnspecifiedMatching -OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:32222 semapv:UnspecifiedMatching -OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:FAM86B2 semapv:UnspecifiedMatching -OMIM:616123 FAM86B2 skos:exactMatch ncbigene:653333 semapv:UnspecifiedMatching -OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:25561 semapv:UnspecifiedMatching -OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:FAM86C1P semapv:UnspecifiedMatching -OMIM:616124 FAM86C1P skos:exactMatch ncbigene:55199 semapv:UnspecifiedMatching -OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:25099 semapv:UnspecifiedMatching -OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:PRMT9 semapv:UnspecifiedMatching -OMIM:616125 PRMT9 skos:exactMatch ncbigene:90826 semapv:UnspecifiedMatching -OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:16708 semapv:UnspecifiedMatching -OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:FAM89B semapv:UnspecifiedMatching -OMIM:616128 FAM89B skos:exactMatch ncbigene:23625 semapv:UnspecifiedMatching -OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:32327 semapv:UnspecifiedMatching -OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:LURAP1 semapv:UnspecifiedMatching -OMIM:616129 LURAP1 skos:exactMatch ncbigene:541468 semapv:UnspecifiedMatching -OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:31452 semapv:UnspecifiedMatching -OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:LURAP1L semapv:UnspecifiedMatching -OMIM:616130 LURAP1L skos:exactMatch ncbigene:286343 semapv:UnspecifiedMatching -OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:50516 semapv:UnspecifiedMatching -OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:GACAT2 semapv:UnspecifiedMatching -OMIM:616131 GACAT2 skos:exactMatch ncbigene:100287082 semapv:UnspecifiedMatching -OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:50847 semapv:UnspecifiedMatching -OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:GACAT3 semapv:UnspecifiedMatching -OMIM:616132 GACAT3 skos:exactMatch ncbigene:104797537 semapv:UnspecifiedMatching -OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:28177 semapv:UnspecifiedMatching -OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:MPV17L2 semapv:UnspecifiedMatching -OMIM:616133 MPV17L2 skos:exactMatch ncbigene:84769 semapv:UnspecifiedMatching -OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:33164 semapv:UnspecifiedMatching -OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:H3-5 semapv:UnspecifiedMatching -OMIM:616134 H3F3C skos:exactMatch ncbigene:440093 semapv:UnspecifiedMatching -OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:13328 semapv:UnspecifiedMatching -OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:IFIT5 semapv:UnspecifiedMatching -OMIM:616135 IFIT5 skos:exactMatch ncbigene:24138 semapv:UnspecifiedMatching -OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:25552 semapv:UnspecifiedMatching -OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:RNF220 semapv:UnspecifiedMatching -OMIM:616136 RNF220 skos:exactMatch ncbigene:55182 semapv:UnspecifiedMatching -OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:33663 semapv:UnspecifiedMatching -OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:MIR873 semapv:UnspecifiedMatching -OMIM:616137 MIR873 skos:exactMatch ncbigene:100126316 semapv:UnspecifiedMatching -OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching -OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:14453 semapv:UnspecifiedMatching -OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:MACROH2A2 semapv:UnspecifiedMatching -OMIM:616141 MACROH2A2 skos:exactMatch ncbigene:55506 semapv:UnspecifiedMatching -OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:26773 semapv:UnspecifiedMatching -OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:FAM98B semapv:UnspecifiedMatching -OMIM:616142 FAM98B skos:exactMatch ncbigene:283742 semapv:UnspecifiedMatching -OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:6738 semapv:UnspecifiedMatching -OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:LYPLA2 semapv:UnspecifiedMatching -OMIM:616143 LYPLA2 skos:exactMatch ncbigene:11313 semapv:UnspecifiedMatching -OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:25928 semapv:UnspecifiedMatching -OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:WDR73 semapv:UnspecifiedMatching -OMIM:616144 WDR73 skos:exactMatch ncbigene:84942 semapv:UnspecifiedMatching -OMIM:616146 TGDS skos:exactMatch hgnc.symbol:20324 semapv:UnspecifiedMatching -OMIM:616146 TGDS skos:exactMatch hgnc.symbol:TGDS semapv:UnspecifiedMatching -OMIM:616146 TGDS skos:exactMatch ncbigene:23483 semapv:UnspecifiedMatching -OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:14434 semapv:UnspecifiedMatching -OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:CDK15 semapv:UnspecifiedMatching -OMIM:616147 CDK15 skos:exactMatch ncbigene:65061 semapv:UnspecifiedMatching -OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:30834 semapv:UnspecifiedMatching -OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:TRIM59 semapv:UnspecifiedMatching -OMIM:616148 TRIM59 skos:exactMatch ncbigene:286827 semapv:UnspecifiedMatching -OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:25554 semapv:UnspecifiedMatching -OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:SLC25A36 semapv:UnspecifiedMatching -OMIM:616149 SLC25A36 skos:exactMatch ncbigene:55186 semapv:UnspecifiedMatching -OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:30451 semapv:UnspecifiedMatching -OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:SLC25A48 semapv:UnspecifiedMatching -OMIM:616150 SLC25A48 skos:exactMatch ncbigene:153328 semapv:UnspecifiedMatching -OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:23324 semapv:UnspecifiedMatching -OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:SLC25A52 semapv:UnspecifiedMatching -OMIM:616153 SLC25A52 skos:exactMatch ncbigene:147407 semapv:UnspecifiedMatching -OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:25531 semapv:UnspecifiedMatching -OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:FAR2 semapv:UnspecifiedMatching -OMIM:616156 FAR2 skos:exactMatch ncbigene:55711 semapv:UnspecifiedMatching -OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:28326 semapv:UnspecifiedMatching -OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:DHRS13 semapv:UnspecifiedMatching -OMIM:616157 DHRS13 skos:exactMatch ncbigene:147015 semapv:UnspecifiedMatching -OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:28639 semapv:UnspecifiedMatching -OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:DHRS11 semapv:UnspecifiedMatching -OMIM:616159 DHRS11 skos:exactMatch ncbigene:79154 semapv:UnspecifiedMatching -OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:24547 semapv:UnspecifiedMatching -OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:DHRS7B semapv:UnspecifiedMatching -OMIM:616160 DHRS7B skos:exactMatch ncbigene:25979 semapv:UnspecifiedMatching -OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:32423 semapv:UnspecifiedMatching -OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:DHRS7C semapv:UnspecifiedMatching -OMIM:616161 DHRS7C skos:exactMatch ncbigene:201140 semapv:UnspecifiedMatching -OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:20275 semapv:UnspecifiedMatching -OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:SDR39U1 semapv:UnspecifiedMatching -OMIM:616162 SDR39U1 skos:exactMatch ncbigene:56948 semapv:UnspecifiedMatching -OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:25832 semapv:UnspecifiedMatching -OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:DHRS12 semapv:UnspecifiedMatching -OMIM:616163 DHRS12 skos:exactMatch ncbigene:79758 semapv:UnspecifiedMatching -OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:29834 semapv:UnspecifiedMatching -OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:SDR42E1 semapv:UnspecifiedMatching -OMIM:616164 SDR42E1 skos:exactMatch ncbigene:93517 semapv:UnspecifiedMatching -OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:28734 semapv:UnspecifiedMatching -OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:DCUN1D3 semapv:UnspecifiedMatching -OMIM:616167 DCUN1D3 skos:exactMatch ncbigene:123879 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch UMLS:C2680495 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:34528 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:TOMM6 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch ncbigene:100188893 semapv:UnspecifiedMatching -OMIM:616169 TOMM5 skos:exactMatch UMLS:C1538341 semapv:UnspecifiedMatching -OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:31369 semapv:UnspecifiedMatching -OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:TOMM5 semapv:UnspecifiedMatching -OMIM:616169 TOMM5 skos:exactMatch ncbigene:401505 semapv:UnspecifiedMatching -OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:25305 semapv:UnspecifiedMatching -OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:NSRP1 semapv:UnspecifiedMatching -OMIM:616173 NSRP1 skos:exactMatch ncbigene:84081 semapv:UnspecifiedMatching -OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:26877 semapv:UnspecifiedMatching -OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:CKAP2L semapv:UnspecifiedMatching -OMIM:616174 CKAP2L skos:exactMatch ncbigene:150468 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch UMLS:C1425009 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:17598 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:UBE2J1 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch ncbigene:51465 semapv:UnspecifiedMatching -OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:16110 semapv:UnspecifiedMatching -OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:DDRGK1 semapv:UnspecifiedMatching -OMIM:616177 DDRGK1 skos:exactMatch ncbigene:65992 semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch UMLS:C1823395 semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:26991 semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:TMEM132E semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch ncbigene:124842 semapv:UnspecifiedMatching -OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:19965 semapv:UnspecifiedMatching -OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:TXNDC16 semapv:UnspecifiedMatching -OMIM:616179 TXNDC16 skos:exactMatch ncbigene:57544 semapv:UnspecifiedMatching -OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:31972 semapv:UnspecifiedMatching -OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:GOLGA8A semapv:UnspecifiedMatching -OMIM:616180 GOLGA8A skos:exactMatch ncbigene:23015 semapv:UnspecifiedMatching -OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:22043 semapv:UnspecifiedMatching -OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:ZNF713 semapv:UnspecifiedMatching -OMIM:616181 ZNF713 skos:exactMatch ncbigene:349075 semapv:UnspecifiedMatching -OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:28128 semapv:UnspecifiedMatching -OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:TMEM107 semapv:UnspecifiedMatching -OMIM:616183 TMEM107 skos:exactMatch ncbigene:84314 semapv:UnspecifiedMatching -OMIM:616184 CLUH skos:exactMatch hgnc.symbol:29094 semapv:UnspecifiedMatching -OMIM:616184 CLUH skos:exactMatch hgnc.symbol:CLUH semapv:UnspecifiedMatching -OMIM:616184 CLUH skos:exactMatch ncbigene:23277 semapv:UnspecifiedMatching -OMIM:616186 h19/igf2-imprinting control region skos:exactMatch ncbigene:105259599 semapv:UnspecifiedMatching -OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:21077 semapv:UnspecifiedMatching -OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:CMTR1 semapv:UnspecifiedMatching -OMIM:616189 CMTR1 skos:exactMatch ncbigene:23070 semapv:UnspecifiedMatching -OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:25635 semapv:UnspecifiedMatching -OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:CMTR2 semapv:UnspecifiedMatching -OMIM:616190 CMTR2 skos:exactMatch ncbigene:55783 semapv:UnspecifiedMatching -OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:24476 semapv:UnspecifiedMatching -OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:DLGAP4 semapv:UnspecifiedMatching -OMIM:616191 DLGAP4 skos:exactMatch ncbigene:22839 semapv:UnspecifiedMatching -OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:25758 semapv:UnspecifiedMatching -OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:UTP15 semapv:UnspecifiedMatching -OMIM:616194 UTP15 skos:exactMatch ncbigene:84135 semapv:UnspecifiedMatching -OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:28945 semapv:UnspecifiedMatching -OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:WDR43 semapv:UnspecifiedMatching -OMIM:616195 WDR43 skos:exactMatch ncbigene:23160 semapv:UnspecifiedMatching -OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:24535 semapv:UnspecifiedMatching -OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:DCAF13 semapv:UnspecifiedMatching -OMIM:616196 DCAF13 skos:exactMatch ncbigene:25879 semapv:UnspecifiedMatching -OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:25862 semapv:UnspecifiedMatching -OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:NOL10 semapv:UnspecifiedMatching -OMIM:616197 NOL10 skos:exactMatch ncbigene:79954 semapv:UnspecifiedMatching -OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:26907 semapv:UnspecifiedMatching -OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:SLC38A9 semapv:UnspecifiedMatching -OMIM:616203 SLC38A9 skos:exactMatch ncbigene:153129 semapv:UnspecifiedMatching -OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:32904 semapv:UnspecifiedMatching -OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:MIR648 semapv:UnspecifiedMatching -OMIM:616205 MIR648 skos:exactMatch ncbigene:693233 semapv:UnspecifiedMatching -OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:49075 semapv:UnspecifiedMatching -OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:NBAT1 semapv:UnspecifiedMatching -OMIM:616206 NBAT1 skos:exactMatch ncbigene:729177 semapv:UnspecifiedMatching -OMIM:616207 NRAV skos:exactMatch hgnc.symbol:48588 semapv:UnspecifiedMatching -OMIM:616207 NRAV skos:exactMatch hgnc.symbol:NRAV semapv:UnspecifiedMatching -OMIM:616207 NRAV skos:exactMatch ncbigene:100506668 semapv:UnspecifiedMatching -OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:27320 semapv:UnspecifiedMatching -OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:C4orf46 semapv:UnspecifiedMatching -OMIM:616210 C4ORF46 skos:exactMatch ncbigene:201725 semapv:UnspecifiedMatching -OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching -OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:18410 semapv:UnspecifiedMatching -OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:ZNF292 semapv:UnspecifiedMatching -OMIM:616213 ZNF292 skos:exactMatch ncbigene:23036 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch UMLS:C1425827 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:18856 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:CREB3L1 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch ncbigene:90993 semapv:UnspecifiedMatching -OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:25571 semapv:UnspecifiedMatching -OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:TBC1D13 semapv:UnspecifiedMatching -OMIM:616218 TBC1D13 skos:exactMatch ncbigene:54662 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch Orphanet:254525 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch Orphanet:254531 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch UMLS:C4015558 semapv:UnspecifiedMatching -OMIM:616223 ANGPTL8 skos:exactMatch UMLS:C3469759 semapv:UnspecifiedMatching -OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:24933 semapv:UnspecifiedMatching -OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:ANGPTL8 semapv:UnspecifiedMatching -OMIM:616223 ANGPTL8 skos:exactMatch ncbigene:55908 semapv:UnspecifiedMatching -OMIM:616225 ATG2A skos:exactMatch UMLS:C2239907 semapv:UnspecifiedMatching -OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:29028 semapv:UnspecifiedMatching -OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:ATG2A semapv:UnspecifiedMatching -OMIM:616225 ATG2A skos:exactMatch ncbigene:23130 semapv:UnspecifiedMatching -OMIM:616226 ATG2B skos:exactMatch UMLS:C1426760 semapv:UnspecifiedMatching -OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:20187 semapv:UnspecifiedMatching -OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:ATG2B semapv:UnspecifiedMatching -OMIM:616226 ATG2B skos:exactMatch ncbigene:55102 semapv:UnspecifiedMatching -OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching -OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching -OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching -OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:51253 semapv:UnspecifiedMatching -OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:MEIKIN semapv:UnspecifiedMatching -OMIM:616232 MEIKIN skos:exactMatch ncbigene:728637 semapv:UnspecifiedMatching -OMIM:616234 WDCP skos:exactMatch hgnc.symbol:26157 semapv:UnspecifiedMatching -OMIM:616234 WDCP skos:exactMatch hgnc.symbol:WDCP semapv:UnspecifiedMatching -OMIM:616234 WDCP skos:exactMatch ncbigene:80304 semapv:UnspecifiedMatching -OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:26199 semapv:UnspecifiedMatching -OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:KATNBL1 semapv:UnspecifiedMatching -OMIM:616235 KATNBL1 skos:exactMatch ncbigene:79768 semapv:UnspecifiedMatching -OMIM:616236 CHADL skos:exactMatch hgnc.symbol:25165 semapv:UnspecifiedMatching -OMIM:616236 CHADL skos:exactMatch hgnc.symbol:CHADL semapv:UnspecifiedMatching -OMIM:616236 CHADL skos:exactMatch ncbigene:150356 semapv:UnspecifiedMatching -OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:29374 semapv:UnspecifiedMatching -OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:KNDC1 semapv:UnspecifiedMatching -OMIM:616237 KNDC1 skos:exactMatch ncbigene:85442 semapv:UnspecifiedMatching -OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:19883 semapv:UnspecifiedMatching -OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:ZBTB49 semapv:UnspecifiedMatching -OMIM:616238 ZBTB49 skos:exactMatch ncbigene:166793 semapv:UnspecifiedMatching -OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:28060 semapv:UnspecifiedMatching -OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:OLMALINC semapv:UnspecifiedMatching -OMIM:616240 OLMALINC skos:exactMatch ncbigene:90271 semapv:UnspecifiedMatching -OMIM:616241 METRNL skos:exactMatch hgnc.symbol:27584 semapv:UnspecifiedMatching -OMIM:616241 METRNL skos:exactMatch hgnc.symbol:METRNL semapv:UnspecifiedMatching -OMIM:616241 METRNL skos:exactMatch ncbigene:284207 semapv:UnspecifiedMatching -OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:29116 semapv:UnspecifiedMatching -OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:TMCC1 semapv:UnspecifiedMatching -OMIM:616242 TMCC1 skos:exactMatch ncbigene:23023 semapv:UnspecifiedMatching -OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:29146 semapv:UnspecifiedMatching -OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:TMEM131L semapv:UnspecifiedMatching -OMIM:616243 TMEM131L skos:exactMatch ncbigene:23240 semapv:UnspecifiedMatching -OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:21645 semapv:UnspecifiedMatching -OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:CHCHD2 semapv:UnspecifiedMatching -OMIM:616244 CHCHD2 skos:exactMatch ncbigene:51142 semapv:UnspecifiedMatching -OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:28032 semapv:UnspecifiedMatching -OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:EMC4 semapv:UnspecifiedMatching -OMIM:616245 EMC4 skos:exactMatch ncbigene:51234 semapv:UnspecifiedMatching -OMIM:616246 MRLN skos:exactMatch hgnc.symbol:48649 semapv:UnspecifiedMatching -OMIM:616246 MRLN skos:exactMatch hgnc.symbol:MRLN semapv:UnspecifiedMatching -OMIM:616246 MRLN skos:exactMatch ncbigene:100507027 semapv:UnspecifiedMatching -OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching -OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching -OMIM:616247 long qt syndrome 14 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching -OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching -OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching -OMIM:616249 long qt syndrome 15 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching -OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:27619 semapv:UnspecifiedMatching -OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:NWD1 semapv:UnspecifiedMatching -OMIM:616250 NWD1 skos:exactMatch ncbigene:284434 semapv:UnspecifiedMatching -OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:22201 semapv:UnspecifiedMatching -OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:TCAF1 semapv:UnspecifiedMatching -OMIM:616251 TCAF1 skos:exactMatch ncbigene:9747 semapv:UnspecifiedMatching -OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:26878 semapv:UnspecifiedMatching -OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:TCAF2 semapv:UnspecifiedMatching -OMIM:616252 TCAF2 skos:exactMatch ncbigene:285966 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch UMLS:C2239511 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch UMLS:C5231440 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:24959 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:GSX2 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch ncbigene:170825 semapv:UnspecifiedMatching -OMIM:616254 CLPB skos:exactMatch hgnc.symbol:30664 semapv:UnspecifiedMatching -OMIM:616254 CLPB skos:exactMatch hgnc.symbol:CLPB semapv:UnspecifiedMatching -OMIM:616254 CLPB skos:exactMatch ncbigene:81570 semapv:UnspecifiedMatching -OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:24591 semapv:UnspecifiedMatching -OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:CLEC4G semapv:UnspecifiedMatching -OMIM:616256 CLEC4G skos:exactMatch ncbigene:339390 semapv:UnspecifiedMatching -OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:3725 semapv:UnspecifiedMatching -OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:FKBP9 semapv:UnspecifiedMatching -OMIM:616257 FKBP9 skos:exactMatch ncbigene:11328 semapv:UnspecifiedMatching -OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:37462 semapv:UnspecifiedMatching -OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:SNHG14 semapv:UnspecifiedMatching -OMIM:616259 SNHG14 skos:exactMatch ncbigene:104472715 semapv:UnspecifiedMatching -OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:26033 semapv:UnspecifiedMatching -OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:PUS7 semapv:UnspecifiedMatching -OMIM:616261 PUS7 skos:exactMatch ncbigene:54517 semapv:UnspecifiedMatching -OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:29041 semapv:UnspecifiedMatching -OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:KLHL21 semapv:UnspecifiedMatching -OMIM:616262 KLHL21 skos:exactMatch ncbigene:9903 semapv:UnspecifiedMatching -OMIM:616264 MAFTRR skos:exactMatch UMLS:C3891017 semapv:UnspecifiedMatching -OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:51525 semapv:UnspecifiedMatching -OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:MAFTRR semapv:UnspecifiedMatching -OMIM:616264 MAFTRR skos:exactMatch ncbigene:102467146 semapv:UnspecifiedMatching -OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching -OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching -OMIM:616268 arboleda-tham syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching -OMIM:616268 arboleda-tham syndrome skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching -OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:32116 semapv:UnspecifiedMatching -OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:MIR520G semapv:UnspecifiedMatching -OMIM:616272 MIR520G skos:exactMatch ncbigene:574484 semapv:UnspecifiedMatching -OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:50895 semapv:UnspecifiedMatching -OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:PCAT29 semapv:UnspecifiedMatching -OMIM:616273 PCAT29 skos:exactMatch ncbigene:104472713 semapv:UnspecifiedMatching -OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:38232 semapv:UnspecifiedMatching -OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:MIR4276 semapv:UnspecifiedMatching -OMIM:616274 MIR4276 skos:exactMatch ncbigene:100423042 semapv:UnspecifiedMatching -OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:25911 semapv:UnspecifiedMatching -OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:FAM136A semapv:UnspecifiedMatching -OMIM:616275 FAM136A skos:exactMatch ncbigene:84908 semapv:UnspecifiedMatching -OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching -OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching -OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch Orphanet:477673 semapv:UnspecifiedMatching -OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching -OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch Orphanet:444099 semapv:UnspecifiedMatching -OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch UMLS:C4225387 semapv:UnspecifiedMatching -OMIM:616283 PUS3 skos:exactMatch UMLS:C1538753 semapv:UnspecifiedMatching -OMIM:616283 PUS3 skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching -OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:25461 semapv:UnspecifiedMatching -OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:PUS3 semapv:UnspecifiedMatching -OMIM:616283 PUS3 skos:exactMatch ncbigene:83480 semapv:UnspecifiedMatching -OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:33276 semapv:UnspecifiedMatching -OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:FLG2 semapv:UnspecifiedMatching -OMIM:616284 FLG2 skos:exactMatch ncbigene:388698 semapv:UnspecifiedMatching -OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:18267 semapv:UnspecifiedMatching -OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:FMNL2 semapv:UnspecifiedMatching -OMIM:616285 FMNL2 skos:exactMatch ncbigene:114793 semapv:UnspecifiedMatching -OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:23698 semapv:UnspecifiedMatching -OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:FMNL3 semapv:UnspecifiedMatching -OMIM:616288 FMNL3 skos:exactMatch ncbigene:91010 semapv:UnspecifiedMatching -OMIM:616289 optic atrophy 9 skos:exactMatch Orphanet:98676 semapv:UnspecifiedMatching -OMIM:616289 optic atrophy 9 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching -OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:25226 semapv:UnspecifiedMatching -OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:ZNF658 semapv:UnspecifiedMatching -OMIM:616290 ZNF658 skos:exactMatch ncbigene:26149 semapv:UnspecifiedMatching -OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch Orphanet:448251 semapv:UnspecifiedMatching -OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching -OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:28566 semapv:UnspecifiedMatching -OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:SAXO1 semapv:UnspecifiedMatching -OMIM:616292 SAXO1 skos:exactMatch ncbigene:158297 semapv:UnspecifiedMatching -OMIM:616293 HRNR skos:exactMatch hgnc.symbol:20846 semapv:UnspecifiedMatching -OMIM:616293 HRNR skos:exactMatch hgnc.symbol:HRNR semapv:UnspecifiedMatching -OMIM:616293 HRNR skos:exactMatch ncbigene:388697 semapv:UnspecifiedMatching -OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch Orphanet:2050 semapv:UnspecifiedMatching -OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch UMLS:C4225382 semapv:UnspecifiedMatching -OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:26183 semapv:UnspecifiedMatching -OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:MCTP1 semapv:UnspecifiedMatching -OMIM:616296 MCTP1 skos:exactMatch ncbigene:79772 semapv:UnspecifiedMatching -OMIM:616297 MCTP2 skos:exactMatch UMLS:C1825955 semapv:UnspecifiedMatching -OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:25636 semapv:UnspecifiedMatching -OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:MCTP2 semapv:UnspecifiedMatching -OMIM:616297 MCTP2 skos:exactMatch ncbigene:55784 semapv:UnspecifiedMatching -OMIM:616298 singleton-merten syndrome 2 skos:exactMatch Orphanet:85191 semapv:UnspecifiedMatching -OMIM:616298 singleton-merten syndrome 2 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching -OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch Orphanet:401862 semapv:UnspecifiedMatching -OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch UMLS:C4225379 semapv:UnspecifiedMatching -OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:16848 semapv:UnspecifiedMatching -OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:CD300LD semapv:UnspecifiedMatching -OMIM:616301 CD300LD skos:exactMatch ncbigene:100131439 semapv:UnspecifiedMatching -OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:23480 semapv:UnspecifiedMatching -OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:FOXK1 semapv:UnspecifiedMatching -OMIM:616302 FOXK1 skos:exactMatch ncbigene:221937 semapv:UnspecifiedMatching -OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:24997 semapv:UnspecifiedMatching -OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:WDR91 semapv:UnspecifiedMatching -OMIM:616303 WDR91 skos:exactMatch ncbigene:29062 semapv:UnspecifiedMatching -OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:25491 semapv:UnspecifiedMatching -OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:FRMD4A semapv:UnspecifiedMatching -OMIM:616305 FRMD4A skos:exactMatch ncbigene:55691 semapv:UnspecifiedMatching -OMIM:616306 FSBP skos:exactMatch hgnc.symbol:43653 semapv:UnspecifiedMatching -OMIM:616306 FSBP skos:exactMatch hgnc.symbol:FSBP semapv:UnspecifiedMatching -OMIM:616306 FSBP skos:exactMatch ncbigene:100861412 semapv:UnspecifiedMatching -OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:49033 semapv:UnspecifiedMatching -OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:BGLT3 semapv:UnspecifiedMatching -OMIM:616308 BGLT3 skos:exactMatch ncbigene:103344929 semapv:UnspecifiedMatching -OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:28214 semapv:UnspecifiedMatching -OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:FRMD5 semapv:UnspecifiedMatching -OMIM:616309 FRMD5 skos:exactMatch ncbigene:84978 semapv:UnspecifiedMatching -OMIM:616310 ARHGAP11B skos:exactMatch UMLS:C1538923 semapv:UnspecifiedMatching -OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:15782 semapv:UnspecifiedMatching -OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:ARHGAP11B semapv:UnspecifiedMatching -OMIM:616310 ARHGAP11B skos:exactMatch ncbigene:89839 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch UMLS:C1427448 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:21244 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:LEMD2 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch ncbigene:221496 semapv:UnspecifiedMatching -OMIM:616315 PAXX skos:exactMatch hgnc.symbol:27849 semapv:UnspecifiedMatching -OMIM:616315 PAXX skos:exactMatch hgnc.symbol:PAXX semapv:UnspecifiedMatching -OMIM:616315 PAXX skos:exactMatch ncbigene:286257 semapv:UnspecifiedMatching -OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:28999 semapv:UnspecifiedMatching -OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:FAM168A semapv:UnspecifiedMatching -OMIM:616316 FAM168A skos:exactMatch ncbigene:23201 semapv:UnspecifiedMatching -OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:20883 semapv:UnspecifiedMatching -OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:GDPD1 semapv:UnspecifiedMatching -OMIM:616317 GDPD1 skos:exactMatch ncbigene:284161 semapv:UnspecifiedMatching -OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:28638 semapv:UnspecifiedMatching -OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:GDPD3 semapv:UnspecifiedMatching -OMIM:616318 GDPD3 skos:exactMatch ncbigene:79153 semapv:UnspecifiedMatching -OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:17765 semapv:UnspecifiedMatching -OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:RNF138 semapv:UnspecifiedMatching -OMIM:616319 RNF138 skos:exactMatch ncbigene:51444 semapv:UnspecifiedMatching -OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:14169 semapv:UnspecifiedMatching -OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:FAHD1 semapv:UnspecifiedMatching -OMIM:616320 FAHD1 skos:exactMatch ncbigene:81889 semapv:UnspecifiedMatching -OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching -OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching -OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch UMLS:C4225371 semapv:UnspecifiedMatching -OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:20311 semapv:UnspecifiedMatching -OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:CHAMP1 semapv:UnspecifiedMatching -OMIM:616327 CHAMP1 skos:exactMatch ncbigene:283489 semapv:UnspecifiedMatching -OMIM:616328 long intergenic noncoding RNA pinky skos:exactMatch ncbigene:105447646 semapv:UnspecifiedMatching -OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:17872 semapv:UnspecifiedMatching -OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:ARMT1 semapv:UnspecifiedMatching -OMIM:616332 ARMT1 skos:exactMatch ncbigene:79624 semapv:UnspecifiedMatching -OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:51639 semapv:UnspecifiedMatching -OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:WSPAR semapv:UnspecifiedMatching -OMIM:616333 WSPAR skos:exactMatch ncbigene:105664404 semapv:UnspecifiedMatching -OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:25607 semapv:UnspecifiedMatching -OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:TMEM100 semapv:UnspecifiedMatching -OMIM:616334 TMEM100 skos:exactMatch ncbigene:55273 semapv:UnspecifiedMatching -OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:37281 semapv:UnspecifiedMatching -OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:AKR1B15 semapv:UnspecifiedMatching -OMIM:616336 AKR1B15 skos:exactMatch ncbigene:441282 semapv:UnspecifiedMatching -OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:19392 semapv:UnspecifiedMatching -OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:SOCS4 semapv:UnspecifiedMatching -OMIM:616337 SOCS4 skos:exactMatch ncbigene:122809 semapv:UnspecifiedMatching -OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:20209 semapv:UnspecifiedMatching -OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:SOX2-OT semapv:UnspecifiedMatching -OMIM:616338 SOX2OT skos:exactMatch ncbigene:347689 semapv:UnspecifiedMatching -OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching -OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch UMLS:C4084712 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching -OMIM:616343 TP53COR1 skos:exactMatch UMLS:C4085705 semapv:UnspecifiedMatching -OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:43652 semapv:UnspecifiedMatching -OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:TP53COR1 semapv:UnspecifiedMatching -OMIM:616343 TP53COR1 skos:exactMatch ncbigene:102800311 semapv:UnspecifiedMatching -OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:26355 semapv:UnspecifiedMatching -OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:TTC23L semapv:UnspecifiedMatching -OMIM:616344 TTC23L skos:exactMatch ncbigene:153657 semapv:UnspecifiedMatching -OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching -OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching -OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:13996 semapv:UnspecifiedMatching -OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:PRDM11 semapv:UnspecifiedMatching -OMIM:616347 PRDM11 skos:exactMatch ncbigene:56981 semapv:UnspecifiedMatching -OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:30954 semapv:UnspecifiedMatching -OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:ZNF695 semapv:UnspecifiedMatching -OMIM:616348 ZNF695 skos:exactMatch ncbigene:57116 semapv:UnspecifiedMatching -OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:24098 semapv:UnspecifiedMatching -OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:SORBS2 semapv:UnspecifiedMatching -OMIM:616349 SORBS2 skos:exactMatch ncbigene:8470 semapv:UnspecifiedMatching -OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:50886 semapv:UnspecifiedMatching -OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:PARTICL semapv:UnspecifiedMatching -OMIM:616350 PARTICL skos:exactMatch ncbigene:100630918 semapv:UnspecifiedMatching -OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:23339 semapv:UnspecifiedMatching -OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:ACBD6 semapv:UnspecifiedMatching -OMIM:616352 ACBD6 skos:exactMatch ncbigene:84320 semapv:UnspecifiedMatching -OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching -OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching -OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:37187 semapv:UnspecifiedMatching -OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:MIR31HG semapv:UnspecifiedMatching -OMIM:616356 MIR31HG skos:exactMatch ncbigene:554202 semapv:UnspecifiedMatching -OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:31872 semapv:UnspecifiedMatching -OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:MIR379 semapv:UnspecifiedMatching -OMIM:616358 MIR379 skos:exactMatch ncbigene:494328 semapv:UnspecifiedMatching -OMIM:616359 COQ5 skos:exactMatch UMLS:C1824777 semapv:UnspecifiedMatching -OMIM:616359 COQ5 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching -OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:28722 semapv:UnspecifiedMatching -OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:COQ5 semapv:UnspecifiedMatching -OMIM:616359 COQ5 skos:exactMatch ncbigene:84274 semapv:UnspecifiedMatching -OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:26167 semapv:UnspecifiedMatching -OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:TMEM135 semapv:UnspecifiedMatching -OMIM:616360 TMEM135 skos:exactMatch ncbigene:65084 semapv:UnspecifiedMatching -OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:23173 semapv:UnspecifiedMatching -OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:SPRR4 semapv:UnspecifiedMatching -OMIM:616363 SPRR4 skos:exactMatch ncbigene:163778 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch UMLS:C1539735 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:19286 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:SCYL2 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch ncbigene:55681 semapv:UnspecifiedMatching -OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching -OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:20229 semapv:UnspecifiedMatching -OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:DCAF4 semapv:UnspecifiedMatching -OMIM:616372 DCAF4 skos:exactMatch ncbigene:26094 semapv:UnspecifiedMatching -OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:23040 semapv:UnspecifiedMatching -OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:BEND3 semapv:UnspecifiedMatching -OMIM:616374 BEND3 skos:exactMatch ncbigene:57673 semapv:UnspecifiedMatching -OMIM:616375 UNK skos:exactMatch hgnc.symbol:29369 semapv:UnspecifiedMatching -OMIM:616375 UNK skos:exactMatch hgnc.symbol:UNK semapv:UnspecifiedMatching -OMIM:616375 UNK skos:exactMatch ncbigene:85451 semapv:UnspecifiedMatching -OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:32912 semapv:UnspecifiedMatching -OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:MIR656 semapv:UnspecifiedMatching -OMIM:616376 MIR656 skos:exactMatch ncbigene:724026 semapv:UnspecifiedMatching -OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:17325 semapv:UnspecifiedMatching -OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:PRODH2 semapv:UnspecifiedMatching -OMIM:616377 PRODH2 skos:exactMatch ncbigene:58510 semapv:UnspecifiedMatching -OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:18402 semapv:UnspecifiedMatching -OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:UBXN1 semapv:UnspecifiedMatching -OMIM:616378 UBXN1 skos:exactMatch ncbigene:51035 semapv:UnspecifiedMatching -OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:29119 semapv:UnspecifiedMatching -OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:UBXN7 semapv:UnspecifiedMatching -OMIM:616379 UBXN7 skos:exactMatch ncbigene:26043 semapv:UnspecifiedMatching -OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:6491 semapv:UnspecifiedMatching -OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:LAMB4 semapv:UnspecifiedMatching -OMIM:616380 LAMB4 skos:exactMatch ncbigene:22798 semapv:UnspecifiedMatching -OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:25265 semapv:UnspecifiedMatching -OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:ZCCHC8 semapv:UnspecifiedMatching -OMIM:616381 ZCCHC8 skos:exactMatch ncbigene:55596 semapv:UnspecifiedMatching -OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:28528 semapv:UnspecifiedMatching -OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:UGT2A3 semapv:UnspecifiedMatching -OMIM:616382 UGT2A3 skos:exactMatch ncbigene:79799 semapv:UnspecifiedMatching -OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:26625 semapv:UnspecifiedMatching -OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:UGT3A1 semapv:UnspecifiedMatching -OMIM:616383 UGT3A1 skos:exactMatch ncbigene:133688 semapv:UnspecifiedMatching -OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:27266 semapv:UnspecifiedMatching -OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:UGT3A2 semapv:UnspecifiedMatching -OMIM:616384 UGT3A2 skos:exactMatch ncbigene:167127 semapv:UnspecifiedMatching -OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:27394 semapv:UnspecifiedMatching -OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:LINC01018 semapv:UnspecifiedMatching -OMIM:616385 LINC01018 skos:exactMatch ncbigene:255167 semapv:UnspecifiedMatching -OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:25705 semapv:UnspecifiedMatching -OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:KCTD17 semapv:UnspecifiedMatching -OMIM:616386 KCTD17 skos:exactMatch ncbigene:79734 semapv:UnspecifiedMatching -OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:27082 semapv:UnspecifiedMatching -OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:DRAIC semapv:UnspecifiedMatching -OMIM:616387 DRAIC skos:exactMatch ncbigene:145837 semapv:UnspecifiedMatching -OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:25683 semapv:UnspecifiedMatching -OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:UBTD1 semapv:UnspecifiedMatching -OMIM:616388 UBTD1 skos:exactMatch ncbigene:80019 semapv:UnspecifiedMatching -OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching -OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch UMLS:C4225344 semapv:UnspecifiedMatching -OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:26353 semapv:UnspecifiedMatching -OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:RANBP3L semapv:UnspecifiedMatching -OMIM:616391 RANBP3L skos:exactMatch ncbigene:202151 semapv:UnspecifiedMatching -OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:33993 semapv:UnspecifiedMatching -OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:SKINT1L semapv:UnspecifiedMatching -OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching -OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching -OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch UMLS:C1425943 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:19003 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:SCMH1 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch ncbigene:22955 semapv:UnspecifiedMatching -OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:15920 semapv:UnspecifiedMatching -OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:PXMP4 semapv:UnspecifiedMatching -OMIM:616397 PXMP4 skos:exactMatch ncbigene:11264 semapv:UnspecifiedMatching -OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:26010 semapv:UnspecifiedMatching -OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:SPDL1 semapv:UnspecifiedMatching -OMIM:616401 SPDL1 skos:exactMatch ncbigene:54908 semapv:UnspecifiedMatching -OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching -OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching -OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:17026 semapv:UnspecifiedMatching -OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:TP53TG1 semapv:UnspecifiedMatching -OMIM:616403 TP53TG1 skos:exactMatch ncbigene:11257 semapv:UnspecifiedMatching -OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:17264 semapv:UnspecifiedMatching -OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:POLR1A semapv:UnspecifiedMatching -OMIM:616404 POLR1A skos:exactMatch ncbigene:25885 semapv:UnspecifiedMatching -OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:19679 semapv:UnspecifiedMatching -OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:AAK1 semapv:UnspecifiedMatching -OMIM:616405 AAK1 skos:exactMatch ncbigene:22848 semapv:UnspecifiedMatching -OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:30262 semapv:UnspecifiedMatching -OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:PYCR2 semapv:UnspecifiedMatching -OMIM:616406 PYCR2 skos:exactMatch ncbigene:29920 semapv:UnspecifiedMatching -OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:25846 semapv:UnspecifiedMatching -OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:PYCR3 semapv:UnspecifiedMatching -OMIM:616408 PYCRL skos:exactMatch ncbigene:65263 semapv:UnspecifiedMatching -OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching -OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:21073 semapv:UnspecifiedMatching -OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:TXNDC5 semapv:UnspecifiedMatching -OMIM:616412 TXNDC5 skos:exactMatch ncbigene:81567 semapv:UnspecifiedMatching -OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:20973 semapv:UnspecifiedMatching -OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:ADGRL1 semapv:UnspecifiedMatching -OMIM:616416 ADGRL1 skos:exactMatch ncbigene:22859 semapv:UnspecifiedMatching -OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:20974 semapv:UnspecifiedMatching -OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:ADGRL3 semapv:UnspecifiedMatching -OMIM:616417 ADGRL3 skos:exactMatch ncbigene:23284 semapv:UnspecifiedMatching -OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:20822 semapv:UnspecifiedMatching -OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:ADGRL4 semapv:UnspecifiedMatching -OMIM:616419 ADGRL4 skos:exactMatch ncbigene:64123 semapv:UnspecifiedMatching -OMIM:616422 TEFM skos:exactMatch hgnc.symbol:26223 semapv:UnspecifiedMatching -OMIM:616422 TEFM skos:exactMatch hgnc.symbol:TEFM semapv:UnspecifiedMatching -OMIM:616422 TEFM skos:exactMatch ncbigene:79736 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch UMLS:C1424502 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:16716 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:DHX30 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch ncbigene:22907 semapv:UnspecifiedMatching -OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:26116 semapv:UnspecifiedMatching -OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:SETD6 semapv:UnspecifiedMatching -OMIM:616424 SETD6 skos:exactMatch ncbigene:79918 semapv:UnspecifiedMatching -OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:25515 semapv:UnspecifiedMatching -OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:CEP192 semapv:UnspecifiedMatching -OMIM:616426 CEP192 skos:exactMatch ncbigene:55125 semapv:UnspecifiedMatching -OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:28285 semapv:UnspecifiedMatching -OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:AKAIN1 semapv:UnspecifiedMatching -OMIM:616427 AKAIN1 skos:exactMatch ncbigene:642597 semapv:UnspecifiedMatching -OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:28391 semapv:UnspecifiedMatching -OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:SUSD3 semapv:UnspecifiedMatching -OMIM:616429 SUSD3 skos:exactMatch ncbigene:203328 semapv:UnspecifiedMatching -OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:27168 semapv:UnspecifiedMatching -OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:GPAT2 semapv:UnspecifiedMatching -OMIM:616431 GPAT2 skos:exactMatch ncbigene:150763 semapv:UnspecifiedMatching -OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:17090 semapv:UnspecifiedMatching -OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:ARHGEF18 semapv:UnspecifiedMatching -OMIM:616432 ARHGEF18 skos:exactMatch ncbigene:23370 semapv:UnspecifiedMatching -OMIM:616434 IST1 skos:exactMatch UMLS:C3470516 semapv:UnspecifiedMatching -OMIM:616434 IST1 skos:exactMatch hgnc.symbol:28977 semapv:UnspecifiedMatching -OMIM:616434 IST1 skos:exactMatch hgnc.symbol:IST1 semapv:UnspecifiedMatching -OMIM:616434 IST1 skos:exactMatch ncbigene:9798 semapv:UnspecifiedMatching -OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:20620 semapv:UnspecifiedMatching -OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:TNFAIP8L3 semapv:UnspecifiedMatching -OMIM:616438 TNFAIP8L3 skos:exactMatch ncbigene:388121 semapv:UnspecifiedMatching -OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:11018 semapv:UnspecifiedMatching -OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:SLC32A1 semapv:UnspecifiedMatching -OMIM:616440 SLC32A1 skos:exactMatch ncbigene:140679 semapv:UnspecifiedMatching -OMIM:616441 OVOL2 skos:exactMatch hgnc.symbol:15804 semapv:UnspecifiedMatching -OMIM:616441 OVOL2 skos:exactMatch hgnc.symbol:OVOL2 semapv:UnspecifiedMatching -OMIM:616441 OVOL2 skos:exactMatch ncbigene:58495 semapv:UnspecifiedMatching -OMIM:616442 OVOL3 skos:exactMatch hgnc.symbol:14186 semapv:UnspecifiedMatching -OMIM:616442 OVOL3 skos:exactMatch hgnc.symbol:OVOL3 semapv:UnspecifiedMatching -OMIM:616442 OVOL3 skos:exactMatch ncbigene:728361 semapv:UnspecifiedMatching -OMIM:616443 ZMYM5 skos:exactMatch hgnc.symbol:13029 semapv:UnspecifiedMatching -OMIM:616443 ZMYM5 skos:exactMatch hgnc.symbol:ZMYM5 semapv:UnspecifiedMatching -OMIM:616443 ZMYM5 skos:exactMatch ncbigene:9205 semapv:UnspecifiedMatching -OMIM:616444 RBM19 skos:exactMatch hgnc.symbol:29098 semapv:UnspecifiedMatching -OMIM:616444 RBM19 skos:exactMatch hgnc.symbol:RBM19 semapv:UnspecifiedMatching -OMIM:616444 RBM19 skos:exactMatch ncbigene:9904 semapv:UnspecifiedMatching -OMIM:616446 LEXM skos:exactMatch hgnc.symbol:CIMAP2 semapv:UnspecifiedMatching -OMIM:616446 LEXM skos:exactMatch ncbigene:163747 semapv:UnspecifiedMatching -OMIM:616447 VIRMA skos:exactMatch hgnc.symbol:24500 semapv:UnspecifiedMatching -OMIM:616447 VIRMA skos:exactMatch hgnc.symbol:VIRMA semapv:UnspecifiedMatching -OMIM:616447 VIRMA skos:exactMatch ncbigene:25962 semapv:UnspecifiedMatching -OMIM:616448 RAB12 skos:exactMatch hgnc.symbol:31332 semapv:UnspecifiedMatching -OMIM:616448 RAB12 skos:exactMatch hgnc.symbol:RAB12 semapv:UnspecifiedMatching -OMIM:616448 RAB12 skos:exactMatch ncbigene:201475 semapv:UnspecifiedMatching -OMIM:616450 EFHD2 skos:exactMatch hgnc.symbol:28670 semapv:UnspecifiedMatching -OMIM:616450 EFHD2 skos:exactMatch hgnc.symbol:EFHD2 semapv:UnspecifiedMatching -OMIM:616450 EFHD2 skos:exactMatch ncbigene:79180 semapv:UnspecifiedMatching -OMIM:616453 ZC3H13 skos:exactMatch hgnc.symbol:20368 semapv:UnspecifiedMatching -OMIM:616453 ZC3H13 skos:exactMatch hgnc.symbol:ZC3H13 semapv:UnspecifiedMatching -OMIM:616453 ZC3H13 skos:exactMatch ncbigene:23091 semapv:UnspecifiedMatching -OMIM:616454 ZNF408 skos:exactMatch hgnc.symbol:20041 semapv:UnspecifiedMatching -OMIM:616454 ZNF408 skos:exactMatch hgnc.symbol:ZNF408 semapv:UnspecifiedMatching -OMIM:616454 ZNF408 skos:exactMatch ncbigene:79797 semapv:UnspecifiedMatching -OMIM:616456 INO80B skos:exactMatch hgnc.symbol:13324 semapv:UnspecifiedMatching -OMIM:616456 INO80B skos:exactMatch hgnc.symbol:INO80B semapv:UnspecifiedMatching -OMIM:616456 INO80B skos:exactMatch ncbigene:83444 semapv:UnspecifiedMatching -OMIM:616457 developmental and epileptic encephalopathy 50 skos:exactMatch Orphanet:448010 semapv:UnspecifiedMatching -OMIM:616457 developmental and epileptic encephalopathy 50 skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching -OMIM:616458 PRDM12 skos:exactMatch hgnc.symbol:13997 semapv:UnspecifiedMatching -OMIM:616458 PRDM12 skos:exactMatch hgnc.symbol:PRDM12 semapv:UnspecifiedMatching -OMIM:616458 PRDM12 skos:exactMatch ncbigene:59335 semapv:UnspecifiedMatching -OMIM:616463 ZNF232 skos:exactMatch hgnc.symbol:13026 semapv:UnspecifiedMatching -OMIM:616463 ZNF232 skos:exactMatch hgnc.symbol:ZNF232 semapv:UnspecifiedMatching -OMIM:616463 ZNF232 skos:exactMatch ncbigene:7775 semapv:UnspecifiedMatching -OMIM:616464 ECD skos:exactMatch UMLS:C1825023 semapv:UnspecifiedMatching -OMIM:616464 ECD skos:exactMatch hgnc.symbol:17029 semapv:UnspecifiedMatching -OMIM:616464 ECD skos:exactMatch hgnc.symbol:ECD semapv:UnspecifiedMatching -OMIM:616464 ECD skos:exactMatch ncbigene:11319 semapv:UnspecifiedMatching -OMIM:616465 VPS50 skos:exactMatch hgnc.symbol:25956 semapv:UnspecifiedMatching -OMIM:616465 VPS50 skos:exactMatch hgnc.symbol:VPS50 semapv:UnspecifiedMatching -OMIM:616465 VPS50 skos:exactMatch ncbigene:55610 semapv:UnspecifiedMatching -OMIM:616466 UNC5D skos:exactMatch hgnc.symbol:18634 semapv:UnspecifiedMatching -OMIM:616466 UNC5D skos:exactMatch hgnc.symbol:UNC5D semapv:UnspecifiedMatching -OMIM:616466 UNC5D skos:exactMatch ncbigene:137970 semapv:UnspecifiedMatching -OMIM:616467 DPCD skos:exactMatch hgnc.symbol:24542 semapv:UnspecifiedMatching -OMIM:616467 DPCD skos:exactMatch hgnc.symbol:DPCD semapv:UnspecifiedMatching -OMIM:616467 DPCD skos:exactMatch ncbigene:25911 semapv:UnspecifiedMatching -OMIM:616471 bethlem myopathy 2 skos:exactMatch Orphanet:610 semapv:UnspecifiedMatching -OMIM:616471 bethlem myopathy 2 skos:exactMatch UMLS:C4225313 semapv:UnspecifiedMatching -OMIM:616472 UBAP2L skos:exactMatch hgnc.symbol:29877 semapv:UnspecifiedMatching -OMIM:616472 UBAP2L skos:exactMatch hgnc.symbol:UBAP2L semapv:UnspecifiedMatching -OMIM:616472 UBAP2L skos:exactMatch ncbigene:9898 semapv:UnspecifiedMatching -OMIM:616473 MIR558 skos:exactMatch hgnc.symbol:32814 semapv:UnspecifiedMatching -OMIM:616473 MIR558 skos:exactMatch hgnc.symbol:MIR558 semapv:UnspecifiedMatching -OMIM:616473 MIR558 skos:exactMatch ncbigene:693143 semapv:UnspecifiedMatching -OMIM:616474 ZSCAN26 skos:exactMatch hgnc.symbol:12978 semapv:UnspecifiedMatching -OMIM:616474 ZSCAN26 skos:exactMatch hgnc.symbol:ZSCAN26 semapv:UnspecifiedMatching -OMIM:616474 ZSCAN26 skos:exactMatch ncbigene:7741 semapv:UnspecifiedMatching -OMIM:616475 CEP72 skos:exactMatch hgnc.symbol:25547 semapv:UnspecifiedMatching -OMIM:616475 CEP72 skos:exactMatch hgnc.symbol:CEP72 semapv:UnspecifiedMatching -OMIM:616475 CEP72 skos:exactMatch ncbigene:55722 semapv:UnspecifiedMatching -OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:25892 semapv:UnspecifiedMatching -OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:AGBL4 semapv:UnspecifiedMatching -OMIM:616476 AGBL4 skos:exactMatch ncbigene:84871 semapv:UnspecifiedMatching -OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:19692 semapv:UnspecifiedMatching -OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:NRBF2 semapv:UnspecifiedMatching -OMIM:616477 NRBF2 skos:exactMatch ncbigene:29982 semapv:UnspecifiedMatching -OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:21964 semapv:UnspecifiedMatching -OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:LRGUK semapv:UnspecifiedMatching -OMIM:616478 LRGUK skos:exactMatch ncbigene:136332 semapv:UnspecifiedMatching -OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:29248 semapv:UnspecifiedMatching -OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:KIAA1328 semapv:UnspecifiedMatching -OMIM:616480 KIAA1328 skos:exactMatch ncbigene:57536 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C1539930 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:30684 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:TAX1BP3 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch ncbigene:30851 semapv:UnspecifiedMatching -OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:13083 semapv:UnspecifiedMatching -OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:ZBTB21 semapv:UnspecifiedMatching -OMIM:616485 ZBTB21 skos:exactMatch ncbigene:49854 semapv:UnspecifiedMatching -OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching -OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching -OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:26596 semapv:UnspecifiedMatching -OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:EWSAT1 semapv:UnspecifiedMatching -OMIM:616492 EWSAT1 skos:exactMatch ncbigene:283673 semapv:UnspecifiedMatching -OMIM:616493 TASOR skos:exactMatch hgnc.symbol:30314 semapv:UnspecifiedMatching -OMIM:616493 TASOR skos:exactMatch hgnc.symbol:TASOR semapv:UnspecifiedMatching -OMIM:616493 TASOR skos:exactMatch ncbigene:23272 semapv:UnspecifiedMatching -OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C1538932 semapv:UnspecifiedMatching -OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:24048 semapv:UnspecifiedMatching -OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:ARL6IP6 semapv:UnspecifiedMatching -OMIM:616495 ARL6IP6 skos:exactMatch ncbigene:151188 semapv:UnspecifiedMatching -OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:29001 semapv:UnspecifiedMatching -OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:NEMP1 semapv:UnspecifiedMatching -OMIM:616496 NEMP1 skos:exactMatch ncbigene:23306 semapv:UnspecifiedMatching -OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:33700 semapv:UnspecifiedMatching -OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:NEMP2 semapv:UnspecifiedMatching -OMIM:616497 NEMP2 skos:exactMatch ncbigene:100131211 semapv:UnspecifiedMatching -OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:27258 semapv:UnspecifiedMatching -OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:RETREG3 semapv:UnspecifiedMatching -OMIM:616498 RETREG3 skos:exactMatch ncbigene:162427 semapv:UnspecifiedMatching -OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:28217 semapv:UnspecifiedMatching -OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:TMEM203 semapv:UnspecifiedMatching -OMIM:616499 TMEM203 skos:exactMatch ncbigene:94107 semapv:UnspecifiedMatching -OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching -OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching -OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching -OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching -OMIM:616504 METTL14 skos:exactMatch UMLS:C2681660 semapv:UnspecifiedMatching -OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:29330 semapv:UnspecifiedMatching -OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:METTL14 semapv:UnspecifiedMatching -OMIM:616504 METTL14 skos:exactMatch ncbigene:57721 semapv:UnspecifiedMatching -OMIM:616506 NDNF skos:exactMatch UMLS:C3472710 semapv:UnspecifiedMatching -OMIM:616506 NDNF skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching -OMIM:616506 NDNF skos:exactMatch hgnc.symbol:26256 semapv:UnspecifiedMatching -OMIM:616506 NDNF skos:exactMatch hgnc.symbol:NDNF semapv:UnspecifiedMatching -OMIM:616506 NDNF skos:exactMatch ncbigene:79625 semapv:UnspecifiedMatching -OMIM:616508 SLC39A11 skos:exactMatch hgnc.symbol:14463 semapv:UnspecifiedMatching -OMIM:616508 SLC39A11 skos:exactMatch hgnc.symbol:SLC39A11 semapv:UnspecifiedMatching -OMIM:616508 SLC39A11 skos:exactMatch ncbigene:201266 semapv:UnspecifiedMatching -OMIM:616510 GNPNAT1 skos:exactMatch hgnc.symbol:19980 semapv:UnspecifiedMatching -OMIM:616510 GNPNAT1 skos:exactMatch hgnc.symbol:GNPNAT1 semapv:UnspecifiedMatching -OMIM:616510 GNPNAT1 skos:exactMatch ncbigene:64841 semapv:UnspecifiedMatching -OMIM:616512 RNF152 skos:exactMatch hgnc.symbol:26811 semapv:UnspecifiedMatching -OMIM:616512 RNF152 skos:exactMatch hgnc.symbol:RNF152 semapv:UnspecifiedMatching -OMIM:616512 RNF152 skos:exactMatch ncbigene:220441 semapv:UnspecifiedMatching -OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:28987 semapv:UnspecifiedMatching -OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:LARP4B semapv:UnspecifiedMatching -OMIM:616513 LARP4B skos:exactMatch ncbigene:23185 semapv:UnspecifiedMatching -OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:28007 semapv:UnspecifiedMatching -OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:MCRIP1 semapv:UnspecifiedMatching -OMIM:616514 FAM195B skos:exactMatch ncbigene:348262 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching -OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:19863 semapv:UnspecifiedMatching -OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:SLC38A6 semapv:UnspecifiedMatching -OMIM:616518 SLC38A6 skos:exactMatch ncbigene:145389 semapv:UnspecifiedMatching -OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:25386 semapv:UnspecifiedMatching -OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:PDE12 semapv:UnspecifiedMatching -OMIM:616519 PDE12 skos:exactMatch ncbigene:201626 semapv:UnspecifiedMatching -OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:22204 semapv:UnspecifiedMatching -OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:AHCYL2 semapv:UnspecifiedMatching -OMIM:616520 AHCYL2 skos:exactMatch ncbigene:23382 semapv:UnspecifiedMatching -OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:28409 semapv:UnspecifiedMatching -OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:DCUN1D5 semapv:UnspecifiedMatching -OMIM:616522 DCUN1D5 skos:exactMatch ncbigene:84259 semapv:UnspecifiedMatching -OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:29083 semapv:UnspecifiedMatching -OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:MFAP3L semapv:UnspecifiedMatching -OMIM:616523 MFAP3L skos:exactMatch ncbigene:9848 semapv:UnspecifiedMatching -OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:22058 semapv:UnspecifiedMatching -OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:TMEM139 semapv:UnspecifiedMatching -OMIM:616524 TMEM139 skos:exactMatch ncbigene:135932 semapv:UnspecifiedMatching -OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:28237 semapv:UnspecifiedMatching -OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:SLC38A10 semapv:UnspecifiedMatching -OMIM:616525 SLC38A10 skos:exactMatch ncbigene:124565 semapv:UnspecifiedMatching -OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:26836 semapv:UnspecifiedMatching -OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:SLC38A11 semapv:UnspecifiedMatching -OMIM:616526 SLC38A11 skos:exactMatch ncbigene:151258 semapv:UnspecifiedMatching -OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:29574 semapv:UnspecifiedMatching -OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:SFR1 semapv:UnspecifiedMatching -OMIM:616527 SFR1 skos:exactMatch ncbigene:119392 semapv:UnspecifiedMatching -OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:31412 semapv:UnspecifiedMatching -OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:SWI5 semapv:UnspecifiedMatching -OMIM:616528 SWI5 skos:exactMatch ncbigene:375757 semapv:UnspecifiedMatching -OMIM:616529 YTHDF1 skos:exactMatch UMLS:C1538132 semapv:UnspecifiedMatching -OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:15867 semapv:UnspecifiedMatching -OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:YTHDF1 semapv:UnspecifiedMatching -OMIM:616529 YTHDF1 skos:exactMatch ncbigene:54915 semapv:UnspecifiedMatching -OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:24721 semapv:UnspecifiedMatching -OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:YTHDC2 semapv:UnspecifiedMatching -OMIM:616530 YTHDC2 skos:exactMatch ncbigene:64848 semapv:UnspecifiedMatching -OMIM:616533 DDX31 skos:exactMatch UMLS:C1424501 semapv:UnspecifiedMatching -OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:16715 semapv:UnspecifiedMatching -OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:DDX31 semapv:UnspecifiedMatching -OMIM:616533 DDX31 skos:exactMatch ncbigene:64794 semapv:UnspecifiedMatching -OMIM:616536 CST9L skos:exactMatch hgnc.symbol:16233 semapv:UnspecifiedMatching -OMIM:616536 CST9L skos:exactMatch hgnc.symbol:CST9L semapv:UnspecifiedMatching -OMIM:616536 CST9L skos:exactMatch ncbigene:128821 semapv:UnspecifiedMatching -OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:16096 semapv:UnspecifiedMatching -OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:VSTM2L semapv:UnspecifiedMatching -OMIM:616537 VSTM2L skos:exactMatch ncbigene:128434 semapv:UnspecifiedMatching -OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:20374 semapv:UnspecifiedMatching -OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:GSX1 semapv:UnspecifiedMatching -OMIM:616542 GSX1 skos:exactMatch ncbigene:219409 semapv:UnspecifiedMatching -OMIM:616543 CST9 skos:exactMatch hgnc.symbol:13261 semapv:UnspecifiedMatching -OMIM:616543 CST9 skos:exactMatch hgnc.symbol:CST9 semapv:UnspecifiedMatching -OMIM:616543 CST9 skos:exactMatch ncbigene:128822 semapv:UnspecifiedMatching -OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:24639 semapv:UnspecifiedMatching -OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:PRELID3A semapv:UnspecifiedMatching -OMIM:616545 PRELID3A skos:exactMatch ncbigene:10650 semapv:UnspecifiedMatching -OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:29615 semapv:UnspecifiedMatching -OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:LYG2 semapv:UnspecifiedMatching -OMIM:616547 LYG2 skos:exactMatch ncbigene:254773 semapv:UnspecifiedMatching -OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:20440 semapv:UnspecifiedMatching -OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:LYPLAL1 semapv:UnspecifiedMatching -OMIM:616548 LYPLAL1 skos:exactMatch ncbigene:127018 semapv:UnspecifiedMatching -OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:21697 semapv:UnspecifiedMatching -OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:TMEM120A semapv:UnspecifiedMatching -OMIM:616550 TMEM120A skos:exactMatch ncbigene:83862 semapv:UnspecifiedMatching -OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:32008 semapv:UnspecifiedMatching -OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:TMEM120B semapv:UnspecifiedMatching -OMIM:616551 TMEM120B skos:exactMatch ncbigene:144404 semapv:UnspecifiedMatching -OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:23435 semapv:UnspecifiedMatching -OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:CARNMT1 semapv:UnspecifiedMatching -OMIM:616552 CARNMT1 skos:exactMatch ncbigene:138199 semapv:UnspecifiedMatching -OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:26620 semapv:UnspecifiedMatching -OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:SPAG17 semapv:UnspecifiedMatching -OMIM:616554 SPAG17 skos:exactMatch ncbigene:200162 semapv:UnspecifiedMatching -OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:29069 semapv:UnspecifiedMatching -OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:LRRC37A semapv:UnspecifiedMatching -OMIM:616555 LRRC37A skos:exactMatch ncbigene:9884 semapv:UnspecifiedMatching -OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:32404 semapv:UnspecifiedMatching -OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:LRRC37A2 semapv:UnspecifiedMatching -OMIM:616556 LRRC37A2 skos:exactMatch ncbigene:474170 semapv:UnspecifiedMatching -OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:32427 semapv:UnspecifiedMatching -OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:LRRC37A3 semapv:UnspecifiedMatching -OMIM:616557 LRRC37A3 skos:exactMatch ncbigene:374819 semapv:UnspecifiedMatching -OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:29070 semapv:UnspecifiedMatching -OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:LRRC37B semapv:UnspecifiedMatching -OMIM:616558 LRRC37B skos:exactMatch ncbigene:114659 semapv:UnspecifiedMatching -OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:52292 semapv:UnspecifiedMatching -OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:CD300H semapv:UnspecifiedMatching -OMIM:616560 cd300h antigen skos:exactMatch ncbigene:100130520 semapv:UnspecifiedMatching -OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:26129 semapv:UnspecifiedMatching -OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:RASAL3 semapv:UnspecifiedMatching -OMIM:616561 RASAL3 skos:exactMatch ncbigene:64926 semapv:UnspecifiedMatching -OMIM:616563 SLK skos:exactMatch hgnc.symbol:11088 semapv:UnspecifiedMatching -OMIM:616563 SLK skos:exactMatch hgnc.symbol:SLK semapv:UnspecifiedMatching -OMIM:616563 SLK skos:exactMatch ncbigene:9748 semapv:UnspecifiedMatching -OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:24165 semapv:UnspecifiedMatching -OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:ANKRD30B semapv:UnspecifiedMatching -OMIM:616565 ANKRD30B skos:exactMatch ncbigene:374860 semapv:UnspecifiedMatching -OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:2675 semapv:UnspecifiedMatching -OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:DAPK2 semapv:UnspecifiedMatching -OMIM:616567 DAPK2 skos:exactMatch ncbigene:23604 semapv:UnspecifiedMatching -OMIM:616569 CSAD skos:exactMatch hgnc.symbol:18966 semapv:UnspecifiedMatching -OMIM:616569 CSAD skos:exactMatch hgnc.symbol:CSAD semapv:UnspecifiedMatching -OMIM:616569 CSAD skos:exactMatch ncbigene:51380 semapv:UnspecifiedMatching -OMIM:616571 CLEC18A skos:exactMatch hgnc.symbol:30388 semapv:UnspecifiedMatching -OMIM:616571 CLEC18A skos:exactMatch hgnc.symbol:CLEC18A semapv:UnspecifiedMatching -OMIM:616571 CLEC18A skos:exactMatch ncbigene:348174 semapv:UnspecifiedMatching -OMIM:616572 CLEC18B skos:exactMatch hgnc.symbol:33849 semapv:UnspecifiedMatching -OMIM:616572 CLEC18B skos:exactMatch hgnc.symbol:CLEC18B semapv:UnspecifiedMatching -OMIM:616572 CLEC18B skos:exactMatch ncbigene:497190 semapv:UnspecifiedMatching -OMIM:616573 CLEC18C skos:exactMatch hgnc.symbol:28538 semapv:UnspecifiedMatching -OMIM:616573 CLEC18C skos:exactMatch hgnc.symbol:CLEC18C semapv:UnspecifiedMatching -OMIM:616573 CLEC18C skos:exactMatch ncbigene:283971 semapv:UnspecifiedMatching -OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:32068 semapv:UnspecifiedMatching -OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:MICOS10 semapv:UnspecifiedMatching -OMIM:616574 MICOS10 skos:exactMatch ncbigene:440574 semapv:UnspecifiedMatching -OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:15500 semapv:UnspecifiedMatching -OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:LENG8 semapv:UnspecifiedMatching -OMIM:616575 LENG8 skos:exactMatch ncbigene:114823 semapv:UnspecifiedMatching -OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching -OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching -OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch Orphanet:457351 semapv:UnspecifiedMatching -OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch UMLS:C4225276 semapv:UnspecifiedMatching -OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:20259 semapv:UnspecifiedMatching -OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:ZBTB1 semapv:UnspecifiedMatching -OMIM:616578 ZBTB1 skos:exactMatch ncbigene:22890 semapv:UnspecifiedMatching -OMIM:616581 KDM4E skos:exactMatch hgnc.symbol:37098 semapv:UnspecifiedMatching -OMIM:616581 KDM4E skos:exactMatch hgnc.symbol:KDM4E semapv:UnspecifiedMatching -OMIM:616581 KDM4E skos:exactMatch ncbigene:390245 semapv:UnspecifiedMatching -OMIM:616582 LSR skos:exactMatch hgnc.symbol:29572 semapv:UnspecifiedMatching -OMIM:616582 LSR skos:exactMatch hgnc.symbol:LSR semapv:UnspecifiedMatching -OMIM:616582 LSR skos:exactMatch ncbigene:51599 semapv:UnspecifiedMatching -OMIM:616584 SPATA31A7 skos:exactMatch hgnc.symbol:32007 semapv:UnspecifiedMatching -OMIM:616584 SPATA31A7 skos:exactMatch hgnc.symbol:SPATA31A7 semapv:UnspecifiedMatching -OMIM:616584 SPATA31A7 skos:exactMatch ncbigene:26165 semapv:UnspecifiedMatching -OMIM:616585 RSPRY1 skos:exactMatch hgnc.symbol:29420 semapv:UnspecifiedMatching -OMIM:616585 RSPRY1 skos:exactMatch hgnc.symbol:RSPRY1 semapv:UnspecifiedMatching -OMIM:616585 RSPRY1 skos:exactMatch ncbigene:89970 semapv:UnspecifiedMatching -OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch Orphanet:447760 semapv:UnspecifiedMatching -OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch UMLS:C4225272 semapv:UnspecifiedMatching -OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:26110 semapv:UnspecifiedMatching -OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:FAM118B semapv:UnspecifiedMatching -OMIM:616587 FAM118B skos:exactMatch ncbigene:79607 semapv:UnspecifiedMatching -OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:27309 semapv:UnspecifiedMatching -OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:DHFR2 semapv:UnspecifiedMatching -OMIM:616588 DHFRL1 skos:exactMatch ncbigene:200895 semapv:UnspecifiedMatching -OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:23836 semapv:UnspecifiedMatching -OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:ZBTB5 semapv:UnspecifiedMatching -OMIM:616590 ZBTB5 skos:exactMatch ncbigene:9925 semapv:UnspecifiedMatching -OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:31700 semapv:UnspecifiedMatching -OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:ZBTB7C semapv:UnspecifiedMatching -OMIM:616591 ZBTB7C skos:exactMatch ncbigene:201501 semapv:UnspecifiedMatching -OMIM:616592 kosaki overgrowth syndrome skos:exactMatch Orphanet:477831 semapv:UnspecifiedMatching -OMIM:616592 kosaki overgrowth syndrome skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching -OMIM:616593 C1QTNF12 skos:exactMatch UMLS:C1823201 semapv:UnspecifiedMatching -OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:32308 semapv:UnspecifiedMatching -OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:C1QTNF12 semapv:UnspecifiedMatching -OMIM:616593 C1QTNF12 skos:exactMatch ncbigene:388581 semapv:UnspecifiedMatching -OMIM:616594 ASAP3 skos:exactMatch hgnc.symbol:14987 semapv:UnspecifiedMatching -OMIM:616594 ASAP3 skos:exactMatch hgnc.symbol:ASAP3 semapv:UnspecifiedMatching -OMIM:616594 ASAP3 skos:exactMatch ncbigene:55616 semapv:UnspecifiedMatching -OMIM:616595 ZBTB2 skos:exactMatch hgnc.symbol:20868 semapv:UnspecifiedMatching -OMIM:616595 ZBTB2 skos:exactMatch hgnc.symbol:ZBTB2 semapv:UnspecifiedMatching -OMIM:616595 ZBTB2 skos:exactMatch ncbigene:57621 semapv:UnspecifiedMatching -OMIM:616596 ARL8B skos:exactMatch UMLS:C1824210 semapv:UnspecifiedMatching -OMIM:616596 ARL8B skos:exactMatch hgnc.symbol:25564 semapv:UnspecifiedMatching -OMIM:616596 ARL8B skos:exactMatch hgnc.symbol:ARL8B semapv:UnspecifiedMatching -OMIM:616596 ARL8B skos:exactMatch ncbigene:55207 semapv:UnspecifiedMatching -OMIM:616597 ARL8A skos:exactMatch UMLS:C1824209 semapv:UnspecifiedMatching -OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:25192 semapv:UnspecifiedMatching -OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:ARL8A semapv:UnspecifiedMatching -OMIM:616597 ARL8A skos:exactMatch ncbigene:127829 semapv:UnspecifiedMatching -OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:17950 semapv:UnspecifiedMatching -OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:BORCS5 semapv:UnspecifiedMatching -OMIM:616598 BORCS5 skos:exactMatch ncbigene:118426 semapv:UnspecifiedMatching -OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:25939 semapv:UnspecifiedMatching -OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:BORCS6 semapv:UnspecifiedMatching -OMIM:616599 BORCS6 skos:exactMatch ncbigene:54785 semapv:UnspecifiedMatching -OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:23516 semapv:UnspecifiedMatching -OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:BORCS7 semapv:UnspecifiedMatching -OMIM:616600 BORCS7 skos:exactMatch ncbigene:119032 semapv:UnspecifiedMatching -OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:37247 semapv:UnspecifiedMatching -OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:BORCS8 semapv:UnspecifiedMatching -OMIM:616601 BORCS8 skos:exactMatch ncbigene:729991 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:35098 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:63440 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching -OMIM:616605 GSKIP skos:exactMatch hgnc.symbol:20343 semapv:UnspecifiedMatching -OMIM:616605 GSKIP skos:exactMatch hgnc.symbol:GSKIP semapv:UnspecifiedMatching -OMIM:616605 GSKIP skos:exactMatch ncbigene:51527 semapv:UnspecifiedMatching -OMIM:616607 KBTBD8 skos:exactMatch hgnc.symbol:30691 semapv:UnspecifiedMatching -OMIM:616607 KBTBD8 skos:exactMatch hgnc.symbol:KBTBD8 semapv:UnspecifiedMatching -OMIM:616607 KBTBD8 skos:exactMatch ncbigene:84541 semapv:UnspecifiedMatching -OMIM:616608 MACIR skos:exactMatch hgnc.symbol:25052 semapv:UnspecifiedMatching -OMIM:616608 MACIR skos:exactMatch hgnc.symbol:MACIR semapv:UnspecifiedMatching -OMIM:616608 MACIR skos:exactMatch ncbigene:90355 semapv:UnspecifiedMatching -OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:25203 semapv:UnspecifiedMatching -OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:TMEM65 semapv:UnspecifiedMatching -OMIM:616609 TMEM65 skos:exactMatch ncbigene:157378 semapv:UnspecifiedMatching -OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:28245 semapv:UnspecifiedMatching -OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:CASC15 semapv:UnspecifiedMatching -OMIM:616610 CASC15 skos:exactMatch ncbigene:401237 semapv:UnspecifiedMatching -OMIM:616611 LINC00461 skos:exactMatch hgnc.symbol:MIR9-2HG semapv:UnspecifiedMatching -OMIM:616611 LINC00461 skos:exactMatch ncbigene:645323 semapv:UnspecifiedMatching -OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:38501 semapv:UnspecifiedMatching -OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:COL6A4P2 semapv:UnspecifiedMatching -OMIM:616612 COL6A4P2 skos:exactMatch ncbigene:646300 semapv:UnspecifiedMatching -OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:27023 semapv:UnspecifiedMatching -OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:COL6A6 semapv:UnspecifiedMatching -OMIM:616613 COL6A6 skos:exactMatch ncbigene:131873 semapv:UnspecifiedMatching -OMIM:616614 HPF1 skos:exactMatch UMLS:C1824170 semapv:UnspecifiedMatching -OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:26051 semapv:UnspecifiedMatching -OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:HPF1 semapv:UnspecifiedMatching -OMIM:616614 HPF1 skos:exactMatch ncbigene:54969 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C2239313 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:24290 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:CSGALNACT1 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch ncbigene:55790 semapv:UnspecifiedMatching -OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:24292 semapv:UnspecifiedMatching -OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:CSGALNACT2 semapv:UnspecifiedMatching -OMIM:616616 CSGALNACT2 skos:exactMatch ncbigene:55454 semapv:UnspecifiedMatching -OMIM:616617 heimler syndrome 2 skos:exactMatch Orphanet:3220 semapv:UnspecifiedMatching -OMIM:616617 heimler syndrome 2 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch UMLS:C1428043 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:23338 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:ACBD5 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch ncbigene:91452 semapv:UnspecifiedMatching -OMIM:616619 DUBR skos:exactMatch hgnc.symbol:48569 semapv:UnspecifiedMatching -OMIM:616619 DUBR skos:exactMatch hgnc.symbol:DUBR semapv:UnspecifiedMatching -OMIM:616619 DUBR skos:exactMatch ncbigene:344595 semapv:UnspecifiedMatching -OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:14098 semapv:UnspecifiedMatching -OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:WDR12 semapv:UnspecifiedMatching -OMIM:616620 WDR12 skos:exactMatch ncbigene:55759 semapv:UnspecifiedMatching -OMIM:616621 DDX27 skos:exactMatch UMLS:C1423765 semapv:UnspecifiedMatching -OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:15837 semapv:UnspecifiedMatching -OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:DDX27 semapv:UnspecifiedMatching -OMIM:616621 DDX27 skos:exactMatch ncbigene:55661 semapv:UnspecifiedMatching -OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:19955 semapv:UnspecifiedMatching -OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:FAM30A semapv:UnspecifiedMatching -OMIM:616623 FAM30A skos:exactMatch ncbigene:9834 semapv:UnspecifiedMatching -OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:24612 semapv:UnspecifiedMatching -OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:NCBP3 semapv:UnspecifiedMatching -OMIM:616624 NCBP3 skos:exactMatch ncbigene:55421 semapv:UnspecifiedMatching -OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:23723 semapv:UnspecifiedMatching -OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:CERCAM semapv:UnspecifiedMatching -OMIM:616626 CERCAM skos:exactMatch ncbigene:51148 semapv:UnspecifiedMatching -OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:17936 semapv:UnspecifiedMatching -OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:PODXL2 semapv:UnspecifiedMatching -OMIM:616627 PODXL2 skos:exactMatch ncbigene:50512 semapv:UnspecifiedMatching -OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:22422 semapv:UnspecifiedMatching -OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:FAM220A semapv:UnspecifiedMatching -OMIM:616628 FAM220A skos:exactMatch ncbigene:84792 semapv:UnspecifiedMatching -OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:17881 semapv:UnspecifiedMatching -OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:NRSN1 semapv:UnspecifiedMatching -OMIM:616630 NRSN1 skos:exactMatch ncbigene:140767 semapv:UnspecifiedMatching -OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:29217 semapv:UnspecifiedMatching -OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:PRR12 semapv:UnspecifiedMatching -OMIM:616633 PRR12 skos:exactMatch ncbigene:57479 semapv:UnspecifiedMatching -OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:24696 semapv:UnspecifiedMatching -OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:SNED1 semapv:UnspecifiedMatching -OMIM:616634 SNED1 skos:exactMatch ncbigene:25992 semapv:UnspecifiedMatching -OMIM:616635 CYHR1 skos:exactMatch hgnc.symbol:ZFTRAF1 semapv:UnspecifiedMatching -OMIM:616635 CYHR1 skos:exactMatch ncbigene:50626 semapv:UnspecifiedMatching -OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:28356 semapv:UnspecifiedMatching -OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:TBC1D16 semapv:UnspecifiedMatching -OMIM:616637 TBC1D16 skos:exactMatch ncbigene:125058 semapv:UnspecifiedMatching -OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:13993 semapv:UnspecifiedMatching -OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:PRDM8 semapv:UnspecifiedMatching -OMIM:616639 PRDM8 skos:exactMatch ncbigene:56978 semapv:UnspecifiedMatching -OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:21159 semapv:UnspecifiedMatching -OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:RNF141 semapv:UnspecifiedMatching -OMIM:616641 RNF141 skos:exactMatch ncbigene:50862 semapv:UnspecifiedMatching -OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:21114 semapv:UnspecifiedMatching -OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:C6orf89 semapv:UnspecifiedMatching -OMIM:616642 C6ORF89 skos:exactMatch ncbigene:221477 semapv:UnspecifiedMatching -OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:24937 semapv:UnspecifiedMatching -OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:HDGFL3 semapv:UnspecifiedMatching -OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch ncbigene:50810 semapv:UnspecifiedMatching -OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:17937 semapv:UnspecifiedMatching -OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:CUZD1 semapv:UnspecifiedMatching -OMIM:616644 CUZD1 skos:exactMatch ncbigene:50624 semapv:UnspecifiedMatching -OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching -OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching -OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:30839 semapv:UnspecifiedMatching -OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:KRT25 semapv:UnspecifiedMatching -OMIM:616646 KRT25 skos:exactMatch ncbigene:147183 semapv:UnspecifiedMatching -OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching -OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch UMLS:C1825666 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:29068 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:KATNIP semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch ncbigene:23247 semapv:UnspecifiedMatching -OMIM:616653 PNISR skos:exactMatch hgnc.symbol:21222 semapv:UnspecifiedMatching -OMIM:616653 PNISR skos:exactMatch hgnc.symbol:PNISR semapv:UnspecifiedMatching -OMIM:616653 PNISR skos:exactMatch ncbigene:25957 semapv:UnspecifiedMatching -OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:23801 semapv:UnspecifiedMatching -OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:SIPA1L3 semapv:UnspecifiedMatching -OMIM:616655 SIPA1L3 skos:exactMatch ncbigene:23094 semapv:UnspecifiedMatching -OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:26036 semapv:UnspecifiedMatching -OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:COMMD8 semapv:UnspecifiedMatching -OMIM:616656 COMMD8 skos:exactMatch ncbigene:54951 semapv:UnspecifiedMatching -OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch Orphanet:447997 semapv:UnspecifiedMatching -OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching -OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:33702 semapv:UnspecifiedMatching -OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:MICOS13 semapv:UnspecifiedMatching -OMIM:616658 MICOS13 skos:exactMatch ncbigene:125988 semapv:UnspecifiedMatching -OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:25699 semapv:UnspecifiedMatching -OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:TBC1D17 semapv:UnspecifiedMatching -OMIM:616659 TBC1D17 skos:exactMatch ncbigene:79735 semapv:UnspecifiedMatching -OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:28709 semapv:UnspecifiedMatching -OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:TMEM175 semapv:UnspecifiedMatching -OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch ncbigene:84286 semapv:UnspecifiedMatching -OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:23573 semapv:UnspecifiedMatching -OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:MORC2 semapv:UnspecifiedMatching -OMIM:616661 MORC2 skos:exactMatch ncbigene:22880 semapv:UnspecifiedMatching -OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:23807 semapv:UnspecifiedMatching -OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:THUMPD1 semapv:UnspecifiedMatching -OMIM:616662 THUMPD1 skos:exactMatch ncbigene:55623 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch UMLS:C1823074 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch UMLS:C3281200 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:32952 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:SNORD118 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch ncbigene:727676 semapv:UnspecifiedMatching -OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:32711 semapv:UnspecifiedMatching -OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:SNORD13 semapv:UnspecifiedMatching -OMIM:616664 SNORD13 skos:exactMatch ncbigene:692084 semapv:UnspecifiedMatching -OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:11507 semapv:UnspecifiedMatching -OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:SYPL1 semapv:UnspecifiedMatching -OMIM:616665 SYPL1 skos:exactMatch ncbigene:6856 semapv:UnspecifiedMatching -OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:15955 semapv:UnspecifiedMatching -OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:SEZ6 semapv:UnspecifiedMatching -OMIM:616666 SEZ6 skos:exactMatch ncbigene:124925 semapv:UnspecifiedMatching -OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:30844 semapv:UnspecifiedMatching -OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:SEZ6L2 semapv:UnspecifiedMatching -OMIM:616667 SEZ6L2 skos:exactMatch ncbigene:26470 semapv:UnspecifiedMatching -OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:29534 semapv:UnspecifiedMatching -OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:ESYT1 semapv:UnspecifiedMatching -OMIM:616670 ESYT1 skos:exactMatch ncbigene:23344 semapv:UnspecifiedMatching -OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:24430 semapv:UnspecifiedMatching -OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:KRT76 semapv:UnspecifiedMatching -OMIM:616671 KRT76 skos:exactMatch ncbigene:51350 semapv:UnspecifiedMatching -OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:28109 semapv:UnspecifiedMatching -OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:SKA1 semapv:UnspecifiedMatching -OMIM:616673 SKA1 skos:exactMatch ncbigene:220134 semapv:UnspecifiedMatching -OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:28006 semapv:UnspecifiedMatching -OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:SKA2 semapv:UnspecifiedMatching -OMIM:616674 SKA2 skos:exactMatch ncbigene:348235 semapv:UnspecifiedMatching -OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:30840 semapv:UnspecifiedMatching -OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:KRT26 semapv:UnspecifiedMatching -OMIM:616675 KRT26 skos:exactMatch ncbigene:353288 semapv:UnspecifiedMatching -OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:30841 semapv:UnspecifiedMatching -OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:KRT27 semapv:UnspecifiedMatching -OMIM:616676 KRT27 skos:exactMatch ncbigene:342574 semapv:UnspecifiedMatching -OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:30842 semapv:UnspecifiedMatching -OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:KRT28 semapv:UnspecifiedMatching -OMIM:616677 KRT28 skos:exactMatch ncbigene:162605 semapv:UnspecifiedMatching -OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:32971 semapv:UnspecifiedMatching -OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:KRT39 semapv:UnspecifiedMatching -OMIM:616678 KRT39 skos:exactMatch ncbigene:390792 semapv:UnspecifiedMatching -OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:26707 semapv:UnspecifiedMatching -OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:KRT40 semapv:UnspecifiedMatching -OMIM:616679 KRT40 skos:exactMatch ncbigene:125115 semapv:UnspecifiedMatching -OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:16918 semapv:UnspecifiedMatching -OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:SYNCRIP semapv:UnspecifiedMatching -OMIM:616686 SYNCRIP skos:exactMatch ncbigene:10492 semapv:UnspecifiedMatching -OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:24866 semapv:UnspecifiedMatching -OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:CEP104 semapv:UnspecifiedMatching -OMIM:616690 CEP104 skos:exactMatch ncbigene:9731 semapv:UnspecifiedMatching -OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:22211 semapv:UnspecifiedMatching -OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:ESYT2 semapv:UnspecifiedMatching -OMIM:616691 ESYT2 skos:exactMatch ncbigene:57488 semapv:UnspecifiedMatching -OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:24295 semapv:UnspecifiedMatching -OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:ESYT3 semapv:UnspecifiedMatching -OMIM:616692 ESYT3 skos:exactMatch ncbigene:83850 semapv:UnspecifiedMatching -OMIM:616693 ASIC5 skos:exactMatch UMLS:C3469621 semapv:UnspecifiedMatching -OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:17537 semapv:UnspecifiedMatching -OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:ASIC5 semapv:UnspecifiedMatching -OMIM:616693 ASIC5 skos:exactMatch ncbigene:51802 semapv:UnspecifiedMatching -OMIM:616694 ECPAS skos:exactMatch UMLS:C1428777 semapv:UnspecifiedMatching -OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:29020 semapv:UnspecifiedMatching -OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:ECPAS semapv:UnspecifiedMatching -OMIM:616694 ECPAS skos:exactMatch ncbigene:23392 semapv:UnspecifiedMatching -OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:18165 semapv:UnspecifiedMatching -OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:STYXL1 semapv:UnspecifiedMatching -OMIM:616695 STYXL1 skos:exactMatch ncbigene:51657 semapv:UnspecifiedMatching -OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:28950 semapv:UnspecifiedMatching -OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:KIAA0040 semapv:UnspecifiedMatching -OMIM:616696 KIAA0040 skos:exactMatch ncbigene:9674 semapv:UnspecifiedMatching -OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:30943 semapv:UnspecifiedMatching -OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:ZNF593 semapv:UnspecifiedMatching -OMIM:616698 ZNF593 skos:exactMatch ncbigene:51042 semapv:UnspecifiedMatching -OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:24993 semapv:UnspecifiedMatching -OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:COMMD2 semapv:UnspecifiedMatching -OMIM:616699 COMMD2 skos:exactMatch ncbigene:51122 semapv:UnspecifiedMatching -OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:23332 semapv:UnspecifiedMatching -OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:COMMD3 semapv:UnspecifiedMatching -OMIM:616700 COMMD3 skos:exactMatch ncbigene:23412 semapv:UnspecifiedMatching -OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:26027 semapv:UnspecifiedMatching -OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:COMMD4 semapv:UnspecifiedMatching -OMIM:616701 COMMD4 skos:exactMatch ncbigene:54939 semapv:UnspecifiedMatching -OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:16747 semapv:UnspecifiedMatching -OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:ZNF589 semapv:UnspecifiedMatching -OMIM:616702 ZNF589 skos:exactMatch ncbigene:51385 semapv:UnspecifiedMatching -OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:16223 semapv:UnspecifiedMatching -OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:COMMD7 semapv:UnspecifiedMatching -OMIM:616703 COMMD7 skos:exactMatch ncbigene:149951 semapv:UnspecifiedMatching -OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:30201 semapv:UnspecifiedMatching -OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:COMMD10 semapv:UnspecifiedMatching -OMIM:616704 COMMD10 skos:exactMatch ncbigene:51397 semapv:UnspecifiedMatching -OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:1186 semapv:UnspecifiedMatching -OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:PARP11 semapv:UnspecifiedMatching -OMIM:616706 PARP11 skos:exactMatch ncbigene:57097 semapv:UnspecifiedMatching -OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:284169 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch UMLS:C4225239 semapv:UnspecifiedMatching -OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:17968 semapv:UnspecifiedMatching -OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:A4GNT semapv:UnspecifiedMatching -OMIM:616709 A4GNT skos:exactMatch ncbigene:51146 semapv:UnspecifiedMatching -OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:18133 semapv:UnspecifiedMatching -OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:TAOK3 semapv:UnspecifiedMatching -OMIM:616711 TAOK3 skos:exactMatch ncbigene:51347 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch UMLS:C1425274 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch UMLS:C1842852 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:18063 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:STARD7 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch ncbigene:56910 semapv:UnspecifiedMatching -OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:17804 semapv:UnspecifiedMatching -OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:PIPOX semapv:UnspecifiedMatching -OMIM:616713 PIPOX skos:exactMatch ncbigene:51268 semapv:UnspecifiedMatching -OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:23200 semapv:UnspecifiedMatching -OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:HBP1 semapv:UnspecifiedMatching -OMIM:616714 HBP1 skos:exactMatch ncbigene:26959 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch UMLS:C2680492 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:30739 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:TMX2 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch ncbigene:51075 semapv:UnspecifiedMatching -OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:25988 semapv:UnspecifiedMatching -OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:TEX10 semapv:UnspecifiedMatching -OMIM:616717 TEX10 skos:exactMatch ncbigene:54881 semapv:UnspecifiedMatching -OMIM:616718 NGRN skos:exactMatch hgnc.symbol:18077 semapv:UnspecifiedMatching -OMIM:616718 NGRN skos:exactMatch hgnc.symbol:NGRN semapv:UnspecifiedMatching -OMIM:616718 NGRN skos:exactMatch ncbigene:51335 semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch UMLS:C2239343 semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:26429 semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:DDX60L semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch ncbigene:91351 semapv:UnspecifiedMatching -OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:25161 semapv:UnspecifiedMatching -OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:PHF21B semapv:UnspecifiedMatching -OMIM:616727 PHF21B skos:exactMatch ncbigene:112885 semapv:UnspecifiedMatching -OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch Orphanet:477993 semapv:UnspecifiedMatching -OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch UMLS:C4225229 semapv:UnspecifiedMatching -OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:15021 semapv:UnspecifiedMatching -OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:OR2W3 semapv:UnspecifiedMatching -OMIM:616729 OR2W3 skos:exactMatch ncbigene:343171 semapv:UnspecifiedMatching -OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:7748 semapv:UnspecifiedMatching -OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:NEK5 semapv:UnspecifiedMatching -OMIM:616731 NEK5 skos:exactMatch ncbigene:341676 semapv:UnspecifiedMatching -OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:28033 semapv:UnspecifiedMatching -OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:CCDC174 semapv:UnspecifiedMatching -OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch ncbigene:51244 semapv:UnspecifiedMatching -OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch Orphanet:487796 semapv:UnspecifiedMatching -OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching -OMIM:616741 PRDM13 skos:exactMatch UMLS:C1422335 semapv:UnspecifiedMatching -OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:13998 semapv:UnspecifiedMatching -OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:PRDM13 semapv:UnspecifiedMatching -OMIM:616741 PRDM13 skos:exactMatch ncbigene:59336 semapv:UnspecifiedMatching -OMIM:616742 NOP58 skos:exactMatch hgnc.symbol:29926 semapv:UnspecifiedMatching -OMIM:616742 NOP58 skos:exactMatch hgnc.symbol:NOP58 semapv:UnspecifiedMatching -OMIM:616742 NOP58 skos:exactMatch ncbigene:51602 semapv:UnspecifiedMatching -OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:30282 semapv:UnspecifiedMatching -OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:RGL3 semapv:UnspecifiedMatching -OMIM:616743 RGL3 skos:exactMatch ncbigene:57139 semapv:UnspecifiedMatching -OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:25114 semapv:UnspecifiedMatching -OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:BOD1 semapv:UnspecifiedMatching -OMIM:616745 BOD1 skos:exactMatch ncbigene:91272 semapv:UnspecifiedMatching -OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:31792 semapv:UnspecifiedMatching -OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:BOD1L1 semapv:UnspecifiedMatching -OMIM:616746 BOD1L1 skos:exactMatch ncbigene:259282 semapv:UnspecifiedMatching -OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:17852 semapv:UnspecifiedMatching -OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:CHPT1 semapv:UnspecifiedMatching -OMIM:616747 CHPT1 skos:exactMatch ncbigene:56994 semapv:UnspecifiedMatching -OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:24860 semapv:UnspecifiedMatching -OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:ENTPD8 semapv:UnspecifiedMatching -OMIM:616748 ENTPD8 skos:exactMatch ncbigene:377841 semapv:UnspecifiedMatching -OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:20714 semapv:UnspecifiedMatching -OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:ZDHHC16 semapv:UnspecifiedMatching -OMIM:616750 ZDHHC16 skos:exactMatch ncbigene:84287 semapv:UnspecifiedMatching -OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:24289 semapv:UnspecifiedMatching -OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:CEPT1 semapv:UnspecifiedMatching -OMIM:616751 CEPT1 skos:exactMatch ncbigene:10390 semapv:UnspecifiedMatching -OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:24955 semapv:UnspecifiedMatching -OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:NSG2 semapv:UnspecifiedMatching -OMIM:616752 NSG2 skos:exactMatch ncbigene:51617 semapv:UnspecifiedMatching -OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:19745 semapv:UnspecifiedMatching -OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:ENTPD7 semapv:UnspecifiedMatching -OMIM:616753 ENTPD7 skos:exactMatch ncbigene:57089 semapv:UnspecifiedMatching -OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:25574 semapv:UnspecifiedMatching -OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:TRIM62 semapv:UnspecifiedMatching -OMIM:616755 TRIM62 skos:exactMatch ncbigene:55223 semapv:UnspecifiedMatching -OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:24677 semapv:UnspecifiedMatching -OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:TMEM150A semapv:UnspecifiedMatching -OMIM:616757 TMEM150A skos:exactMatch ncbigene:129303 semapv:UnspecifiedMatching -OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:26624 semapv:UnspecifiedMatching -OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:KDF1 semapv:UnspecifiedMatching -OMIM:616758 KDF1 skos:exactMatch ncbigene:126695 semapv:UnspecifiedMatching -OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:17946 semapv:UnspecifiedMatching -OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:NOSIP semapv:UnspecifiedMatching -OMIM:616759 NOSIP skos:exactMatch ncbigene:51070 semapv:UnspecifiedMatching -OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:19956 semapv:UnspecifiedMatching -OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:SUSD6 semapv:UnspecifiedMatching -OMIM:616761 SUSD6 skos:exactMatch ncbigene:9766 semapv:UnspecifiedMatching -OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:29578 semapv:UnspecifiedMatching -OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:CCSAP semapv:UnspecifiedMatching -OMIM:616762 CCSAP skos:exactMatch ncbigene:126731 semapv:UnspecifiedMatching -OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:27501 semapv:UnspecifiedMatching -OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:SLC46A3 semapv:UnspecifiedMatching -OMIM:616764 SLC46A3 skos:exactMatch ncbigene:283537 semapv:UnspecifiedMatching -OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:28706 semapv:UnspecifiedMatching -OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:SAMD11 semapv:UnspecifiedMatching -OMIM:616765 SAMD11 skos:exactMatch ncbigene:148398 semapv:UnspecifiedMatching -OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:25237 semapv:UnspecifiedMatching -OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:TMX4 semapv:UnspecifiedMatching -OMIM:616766 TMX4 skos:exactMatch ncbigene:56255 semapv:UnspecifiedMatching -OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:16371 semapv:UnspecifiedMatching -OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:CAPNS2 semapv:UnspecifiedMatching -OMIM:616767 CAPNS2 skos:exactMatch ncbigene:84290 semapv:UnspecifiedMatching -OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:20773 semapv:UnspecifiedMatching -OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:TUBB8 semapv:UnspecifiedMatching -OMIM:616768 TUBB8 skos:exactMatch ncbigene:347688 semapv:UnspecifiedMatching -OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:29878 semapv:UnspecifiedMatching -OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:NIT2 semapv:UnspecifiedMatching -OMIM:616769 NIT2 skos:exactMatch ncbigene:56954 semapv:UnspecifiedMatching -OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:31595 semapv:UnspecifiedMatching -OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:MIR218-1 semapv:UnspecifiedMatching -OMIM:616770 MIR218-1 skos:exactMatch ncbigene:407000 semapv:UnspecifiedMatching -OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:31596 semapv:UnspecifiedMatching -OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:MIR218-2 semapv:UnspecifiedMatching -OMIM:616771 MIR218-2 skos:exactMatch ncbigene:407001 semapv:UnspecifiedMatching -OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:19080 semapv:UnspecifiedMatching -OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:MAN1C1 semapv:UnspecifiedMatching -OMIM:616772 MAN1C1 skos:exactMatch ncbigene:57134 semapv:UnspecifiedMatching -OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:24741 semapv:UnspecifiedMatching -OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:MIGA1 semapv:UnspecifiedMatching -OMIM:616773 MIGA1 skos:exactMatch ncbigene:374986 semapv:UnspecifiedMatching -OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:23621 semapv:UnspecifiedMatching -OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:MIGA2 semapv:UnspecifiedMatching -OMIM:616774 MIGA2 skos:exactMatch ncbigene:84895 semapv:UnspecifiedMatching -OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:28495 semapv:UnspecifiedMatching -OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:ZNF683 semapv:UnspecifiedMatching -OMIM:616775 ZNF683 skos:exactMatch ncbigene:257101 semapv:UnspecifiedMatching -OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:16236 semapv:UnspecifiedMatching -OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:DUSP15 semapv:UnspecifiedMatching -OMIM:616776 DUSP15 skos:exactMatch ncbigene:128853 semapv:UnspecifiedMatching -OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:16077 semapv:UnspecifiedMatching -OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:DUSP22 semapv:UnspecifiedMatching -OMIM:616778 DUSP22 skos:exactMatch ncbigene:56940 semapv:UnspecifiedMatching -OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:17973 semapv:UnspecifiedMatching -OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:GCNT4 semapv:UnspecifiedMatching -OMIM:616782 GCNT4 skos:exactMatch ncbigene:51301 semapv:UnspecifiedMatching -OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:26354 semapv:UnspecifiedMatching -OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:UBXN10 semapv:UnspecifiedMatching -OMIM:616783 UBXN10 skos:exactMatch ncbigene:127733 semapv:UnspecifiedMatching -OMIM:616784 joubert syndrome 26 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching -OMIM:616784 joubert syndrome 26 skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching -OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:13411 semapv:UnspecifiedMatching -OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:PHTF2 semapv:UnspecifiedMatching -OMIM:616785 PHTF2 skos:exactMatch ncbigene:57157 semapv:UnspecifiedMatching -OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:29536 semapv:UnspecifiedMatching -OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:MAPKBP1 semapv:UnspecifiedMatching -OMIM:616786 MAPKBP1 skos:exactMatch ncbigene:23005 semapv:UnspecifiedMatching -OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:19009 semapv:UnspecifiedMatching -OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:CLUAP1 semapv:UnspecifiedMatching -OMIM:616787 CLUAP1 skos:exactMatch ncbigene:23059 semapv:UnspecifiedMatching -OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:23788 semapv:UnspecifiedMatching -OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:PPP4R4 semapv:UnspecifiedMatching -OMIM:616790 PPP4R4 skos:exactMatch ncbigene:57718 semapv:UnspecifiedMatching -OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:19405 semapv:UnspecifiedMatching -OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:PGBD5 semapv:UnspecifiedMatching -OMIM:616791 PGBD5 skos:exactMatch ncbigene:79605 semapv:UnspecifiedMatching -OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:30040 semapv:UnspecifiedMatching -OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:PLA2G2F semapv:UnspecifiedMatching -OMIM:616793 PLA2G2F skos:exactMatch ncbigene:64600 semapv:UnspecifiedMatching -OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:19979 semapv:UnspecifiedMatching -OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:RDH14 semapv:UnspecifiedMatching -OMIM:616796 RDH14 skos:exactMatch ncbigene:57665 semapv:UnspecifiedMatching -OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:29155 semapv:UnspecifiedMatching -OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:EFR3B semapv:UnspecifiedMatching -OMIM:616797 EFR3B skos:exactMatch ncbigene:22979 semapv:UnspecifiedMatching -OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:17801 semapv:UnspecifiedMatching -OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:ZFP28 semapv:UnspecifiedMatching -OMIM:616798 ZFP28 skos:exactMatch ncbigene:140612 semapv:UnspecifiedMatching -OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:21537 semapv:UnspecifiedMatching -OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:SYCP2L semapv:UnspecifiedMatching -OMIM:616799 SYCP2L skos:exactMatch ncbigene:221711 semapv:UnspecifiedMatching -OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:44169 semapv:UnspecifiedMatching -OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:LOXL1-AS1 semapv:UnspecifiedMatching -OMIM:616800 LOXL1AS1 skos:exactMatch ncbigene:100287616 semapv:UnspecifiedMatching -OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:37250 semapv:UnspecifiedMatching -OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:TARM1 semapv:UnspecifiedMatching -OMIM:616802 TARM1 skos:exactMatch ncbigene:441864 semapv:UnspecifiedMatching -OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:29455 semapv:UnspecifiedMatching -OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:VSTM1 semapv:UnspecifiedMatching -OMIM:616804 VSTM1 skos:exactMatch ncbigene:284415 semapv:UnspecifiedMatching -OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:23172 semapv:UnspecifiedMatching -OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:MYCT1 semapv:UnspecifiedMatching -OMIM:616805 MYCT1 skos:exactMatch ncbigene:80177 semapv:UnspecifiedMatching -OMIM:616806 wilms tumor 6 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching -OMIM:616806 wilms tumor 6 skos:exactMatch UMLS:C3891301 semapv:UnspecifiedMatching -OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:24674 semapv:UnspecifiedMatching -OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:FBF1 semapv:UnspecifiedMatching -OMIM:616807 FBF1 skos:exactMatch ncbigene:85302 semapv:UnspecifiedMatching -OMIM:616808 SHFL skos:exactMatch hgnc.symbol:25649 semapv:UnspecifiedMatching -OMIM:616808 SHFL skos:exactMatch hgnc.symbol:SHFL semapv:UnspecifiedMatching -OMIM:616808 SHFL skos:exactMatch ncbigene:55337 semapv:UnspecifiedMatching -OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:13770 semapv:UnspecifiedMatching -OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:IGDCC4 semapv:UnspecifiedMatching -OMIM:616810 IGDCC4 skos:exactMatch ncbigene:57722 semapv:UnspecifiedMatching -OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:16923 semapv:UnspecifiedMatching -OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:AGAP3 semapv:UnspecifiedMatching -OMIM:616813 AGAP3 skos:exactMatch ncbigene:116988 semapv:UnspecifiedMatching -OMIM:616814 oocyte/zygote/embryo maturation arrest 15 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching -OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:18085 semapv:UnspecifiedMatching -OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:TMEM199 semapv:UnspecifiedMatching -OMIM:616815 TMEM199 skos:exactMatch ncbigene:147007 semapv:UnspecifiedMatching -OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:25778 semapv:UnspecifiedMatching -OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:MTHFSD semapv:UnspecifiedMatching -OMIM:616820 MTHFSD skos:exactMatch ncbigene:64779 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch UMLS:C1425063 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:17754 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:THSD1 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch ncbigene:55901 semapv:UnspecifiedMatching -OMIM:616822 MON2 skos:exactMatch UMLS:C1826264 semapv:UnspecifiedMatching -OMIM:616822 MON2 skos:exactMatch hgnc.symbol:29177 semapv:UnspecifiedMatching -OMIM:616822 MON2 skos:exactMatch hgnc.symbol:MON2 semapv:UnspecifiedMatching -OMIM:616822 MON2 skos:exactMatch ncbigene:23041 semapv:UnspecifiedMatching -OMIM:616823 DOP1A skos:exactMatch UMLS:C1824958 semapv:UnspecifiedMatching -OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:21194 semapv:UnspecifiedMatching -OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:DOP1A semapv:UnspecifiedMatching -OMIM:616823 DOP1A skos:exactMatch ncbigene:23033 semapv:UnspecifiedMatching -OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:34348 semapv:UnspecifiedMatching -OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:TRNP1 semapv:UnspecifiedMatching -OMIM:616824 TRNP1 skos:exactMatch ncbigene:388610 semapv:UnspecifiedMatching -OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:15909 semapv:UnspecifiedMatching -OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:NCOA5 semapv:UnspecifiedMatching -OMIM:616825 NCOA5 skos:exactMatch ncbigene:57727 semapv:UnspecifiedMatching -OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:24634 semapv:UnspecifiedMatching -OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:EPS15L1 semapv:UnspecifiedMatching -OMIM:616826 EPS15L1 skos:exactMatch ncbigene:58513 semapv:UnspecifiedMatching -OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:25439 semapv:UnspecifiedMatching -OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:TANGO2 semapv:UnspecifiedMatching -OMIM:616830 TANGO2 skos:exactMatch ncbigene:128989 semapv:UnspecifiedMatching -OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:26679 semapv:UnspecifiedMatching -OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:MYOM3 semapv:UnspecifiedMatching -OMIM:616832 MYOM3 skos:exactMatch ncbigene:127294 semapv:UnspecifiedMatching -OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching -OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching -OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:25499 semapv:UnspecifiedMatching -OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:GPATCH2 semapv:UnspecifiedMatching -OMIM:616836 GPATCH2 skos:exactMatch ncbigene:55105 semapv:UnspecifiedMatching -OMIM:616837 human pluripotency-associated transcript 5, noncoding skos:exactMatch ncbigene:112590798 semapv:UnspecifiedMatching -OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:34520 semapv:UnspecifiedMatching -OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:CLEC17A semapv:UnspecifiedMatching -OMIM:616838 CLEC17A skos:exactMatch ncbigene:388512 semapv:UnspecifiedMatching -OMIM:616839 exercise intolerance, riboflavin-responsive skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching -OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching -OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch UMLS:C4225186 semapv:UnspecifiedMatching -OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:33105 semapv:UnspecifiedMatching -OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:ZNF468 semapv:UnspecifiedMatching -OMIM:616841 ZNF468 skos:exactMatch ncbigene:90333 semapv:UnspecifiedMatching -OMIM:616842 DHS6S1 skos:exactMatch ncbigene:111365204 semapv:UnspecifiedMatching -OMIM:616843 lymphatic malformation 6 skos:exactMatch UMLS:C4225184 semapv:UnspecifiedMatching -OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:25556 semapv:UnspecifiedMatching -OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:DNAJC17 semapv:UnspecifiedMatching -OMIM:616844 DNAJC17 skos:exactMatch ncbigene:55192 semapv:UnspecifiedMatching -OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:19832 semapv:UnspecifiedMatching -OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:CLEC14A semapv:UnspecifiedMatching -OMIM:616845 CLEC14A skos:exactMatch ncbigene:161198 semapv:UnspecifiedMatching -OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:28957 semapv:UnspecifiedMatching -OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:EMC1 semapv:UnspecifiedMatching -OMIM:616846 EMC1 skos:exactMatch ncbigene:23065 semapv:UnspecifiedMatching -OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:25281 semapv:UnspecifiedMatching -OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:ZNF543 semapv:UnspecifiedMatching -OMIM:616847 ZNF543 skos:exactMatch ncbigene:125919 semapv:UnspecifiedMatching -OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:29657 semapv:UnspecifiedMatching -OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:MIER1 semapv:UnspecifiedMatching -OMIM:616848 MIER1 skos:exactMatch ncbigene:57708 semapv:UnspecifiedMatching -OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:32672 semapv:UnspecifiedMatching -OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:WDR83 semapv:UnspecifiedMatching -OMIM:616850 WDR83 skos:exactMatch ncbigene:84292 semapv:UnspecifiedMatching -OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:30602 semapv:UnspecifiedMatching -OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:FAM72C semapv:UnspecifiedMatching -OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch ncbigene:554282 semapv:UnspecifiedMatching -OMIM:616855 COX8C skos:exactMatch hgnc.symbol:24382 semapv:UnspecifiedMatching -OMIM:616855 COX8C skos:exactMatch hgnc.symbol:COX8C semapv:UnspecifiedMatching -OMIM:616855 COX8C skos:exactMatch ncbigene:341947 semapv:UnspecifiedMatching -OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:14256 semapv:UnspecifiedMatching -OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:BRPF3 semapv:UnspecifiedMatching -OMIM:616856 BRPF3 skos:exactMatch ncbigene:27154 semapv:UnspecifiedMatching -OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:2018 semapv:UnspecifiedMatching -OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:CLCA4 semapv:UnspecifiedMatching -OMIM:616857 CLCA4 skos:exactMatch ncbigene:22802 semapv:UnspecifiedMatching -OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch Orphanet:255132 semapv:UnspecifiedMatching -OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch UMLS:C4225155 semapv:UnspecifiedMatching -OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:17435 semapv:UnspecifiedMatching -OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:SLC12A9 semapv:UnspecifiedMatching -OMIM:616861 SLC12A9 skos:exactMatch ncbigene:56996 semapv:UnspecifiedMatching -OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:10340 semapv:UnspecifiedMatching -OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:RPL34 semapv:UnspecifiedMatching -OMIM:616862 RPL34 skos:exactMatch ncbigene:6164 semapv:UnspecifiedMatching -OMIM:616863 hao-fountain syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching -OMIM:616863 hao-fountain syndrome skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching -OMIM:616864 HEXD skos:exactMatch hgnc.symbol:26307 semapv:UnspecifiedMatching -OMIM:616864 HEXD skos:exactMatch hgnc.symbol:HEXD semapv:UnspecifiedMatching -OMIM:616864 HEXD skos:exactMatch ncbigene:284004 semapv:UnspecifiedMatching -OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:14982 semapv:UnspecifiedMatching -OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:PAPOLG semapv:UnspecifiedMatching -OMIM:616865 PAPOLG skos:exactMatch ncbigene:64895 semapv:UnspecifiedMatching -OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching -OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C1849101 semapv:UnspecifiedMatching -OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C4225177 semapv:UnspecifiedMatching -OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching -OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching -OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching -OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching -OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:26759 semapv:UnspecifiedMatching -OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:CNEP1R1 semapv:UnspecifiedMatching -OMIM:616869 CNEP1R1 skos:exactMatch ncbigene:255919 semapv:UnspecifiedMatching -OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:21076 semapv:UnspecifiedMatching -OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:TMEM14A semapv:UnspecifiedMatching -OMIM:616870 TMEM14A skos:exactMatch ncbigene:28978 semapv:UnspecifiedMatching -OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch Orphanet:488647 semapv:UnspecifiedMatching -OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch UMLS:C4225174 semapv:UnspecifiedMatching -OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:21529 semapv:UnspecifiedMatching -OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:TM9SF3 semapv:UnspecifiedMatching -OMIM:616872 TM9SF3 skos:exactMatch ncbigene:56889 semapv:UnspecifiedMatching -OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:24257 semapv:UnspecifiedMatching -OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:TMBIM4 semapv:UnspecifiedMatching -OMIM:616874 TMBIM4 skos:exactMatch ncbigene:51643 semapv:UnspecifiedMatching -OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:24251 semapv:UnspecifiedMatching -OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:TMED5 semapv:UnspecifiedMatching -OMIM:616876 TMED5 skos:exactMatch ncbigene:50999 semapv:UnspecifiedMatching -OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:18823 semapv:UnspecifiedMatching -OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:TMEM9 semapv:UnspecifiedMatching -OMIM:616877 TMEM9 skos:exactMatch ncbigene:252839 semapv:UnspecifiedMatching -OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:1309 semapv:UnspecifiedMatching -OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:TBC1D22A semapv:UnspecifiedMatching -OMIM:616879 TBC1D22A skos:exactMatch ncbigene:25771 semapv:UnspecifiedMatching -OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:21602 semapv:UnspecifiedMatching -OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:TBC1D22B semapv:UnspecifiedMatching -OMIM:616880 TBC1D22B skos:exactMatch ncbigene:55633 semapv:UnspecifiedMatching -OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:24085 semapv:UnspecifiedMatching -OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:SRPRB semapv:UnspecifiedMatching -OMIM:616883 SRPRB skos:exactMatch ncbigene:58477 semapv:UnspecifiedMatching -OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:19966 semapv:UnspecifiedMatching -OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:UNC79 semapv:UnspecifiedMatching -OMIM:616884 UNC79 skos:exactMatch ncbigene:57578 semapv:UnspecifiedMatching -OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:17150 semapv:UnspecifiedMatching -OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:CARHSP1 semapv:UnspecifiedMatching -OMIM:616885 CARHSP1 skos:exactMatch ncbigene:23589 semapv:UnspecifiedMatching -OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:28979 semapv:UnspecifiedMatching -OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:GSE1 semapv:UnspecifiedMatching -OMIM:616886 GSE1 skos:exactMatch ncbigene:23199 semapv:UnspecifiedMatching -OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:21427 semapv:UnspecifiedMatching -OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:TMEM8B semapv:UnspecifiedMatching -OMIM:616888 TMEM8B skos:exactMatch ncbigene:51754 semapv:UnspecifiedMatching -OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:29076 semapv:UnspecifiedMatching -OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:CEP68 semapv:UnspecifiedMatching -OMIM:616889 CEP68 skos:exactMatch ncbigene:23177 semapv:UnspecifiedMatching -OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:52297 semapv:UnspecifiedMatching -OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:STRIT1 semapv:UnspecifiedMatching -OMIM:616891 STRIT1 skos:exactMatch ncbigene:100507537 semapv:UnspecifiedMatching -OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching -OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:49644 semapv:UnspecifiedMatching -OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:SAMMSON semapv:UnspecifiedMatching -OMIM:616895 SAMMSON skos:exactMatch ncbigene:101927152 semapv:UnspecifiedMatching -OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) skos:exactMatch UMLS:C4225163 semapv:UnspecifiedMatching -OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching -OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch UMLS:C4225162 semapv:UnspecifiedMatching -OMIM:616899 TBCK skos:exactMatch hgnc.symbol:28261 semapv:UnspecifiedMatching -OMIM:616899 TBCK skos:exactMatch hgnc.symbol:TBCK semapv:UnspecifiedMatching -OMIM:616899 TBCK skos:exactMatch ncbigene:93627 semapv:UnspecifiedMatching -OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:23476 semapv:UnspecifiedMatching -OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:DOCK5 semapv:UnspecifiedMatching -OMIM:616904 DOCK5 skos:exactMatch ncbigene:80005 semapv:UnspecifiedMatching -OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:24549 semapv:UnspecifiedMatching -OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:MRFAP1 semapv:UnspecifiedMatching -OMIM:616905 MRFAP1 skos:exactMatch ncbigene:93621 semapv:UnspecifiedMatching -OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:29599 semapv:UnspecifiedMatching -OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:DNAI7 semapv:UnspecifiedMatching -OMIM:616906 CASC1 skos:exactMatch ncbigene:55259 semapv:UnspecifiedMatching -OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:21345 semapv:UnspecifiedMatching -OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:PTCHD4 semapv:UnspecifiedMatching -OMIM:616908 PTCHD4 skos:exactMatch ncbigene:442213 semapv:UnspecifiedMatching -OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:24350 semapv:UnspecifiedMatching -OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:CCDC68 semapv:UnspecifiedMatching -OMIM:616909 CCDC68 skos:exactMatch ncbigene:80323 semapv:UnspecifiedMatching -OMIM:616912 EVL skos:exactMatch hgnc.symbol:20234 semapv:UnspecifiedMatching -OMIM:616912 EVL skos:exactMatch hgnc.symbol:EVL semapv:UnspecifiedMatching -OMIM:616912 EVL skos:exactMatch ncbigene:51466 semapv:UnspecifiedMatching -OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:25082 semapv:UnspecifiedMatching -OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:SMAP2 semapv:UnspecifiedMatching -OMIM:616916 SMAP2 skos:exactMatch ncbigene:64744 semapv:UnspecifiedMatching -OMIM:616918 PIGG skos:exactMatch hgnc.symbol:25985 semapv:UnspecifiedMatching -OMIM:616918 PIGG skos:exactMatch hgnc.symbol:PIGG semapv:UnspecifiedMatching -OMIM:616918 PIGG skos:exactMatch ncbigene:54872 semapv:UnspecifiedMatching -OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:29159 semapv:UnspecifiedMatching -OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:FRMPD1 semapv:UnspecifiedMatching -OMIM:616919 FRMPD1 skos:exactMatch ncbigene:22844 semapv:UnspecifiedMatching -OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:32947 semapv:UnspecifiedMatching -OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:RNF207 semapv:UnspecifiedMatching -OMIM:616923 RNF207 skos:exactMatch ncbigene:388591 semapv:UnspecifiedMatching -OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:23175 semapv:UnspecifiedMatching -OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:DHRS4-AS1 semapv:UnspecifiedMatching -OMIM:616925 DHRS4AS1 skos:exactMatch ncbigene:55449 semapv:UnspecifiedMatching -OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:4028 semapv:UnspecifiedMatching -OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:FXYD4 semapv:UnspecifiedMatching -OMIM:616926 FXYD4 skos:exactMatch ncbigene:53828 semapv:UnspecifiedMatching -OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:30162 semapv:UnspecifiedMatching -OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:EXOC3L2 semapv:UnspecifiedMatching -OMIM:616927 EXOC3L2 skos:exactMatch ncbigene:90332 semapv:UnspecifiedMatching -OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:25480 semapv:UnspecifiedMatching -OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:TMEM45A semapv:UnspecifiedMatching -OMIM:616928 TMEM45A skos:exactMatch ncbigene:55076 semapv:UnspecifiedMatching -OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:30779 semapv:UnspecifiedMatching -OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:MTERF2 semapv:UnspecifiedMatching -OMIM:616929 MTERF2 skos:exactMatch ncbigene:80298 semapv:UnspecifiedMatching -OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:24258 semapv:UnspecifiedMatching -OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:MTERF3 semapv:UnspecifiedMatching -OMIM:616930 MTERF3 skos:exactMatch ncbigene:51001 semapv:UnspecifiedMatching -OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:19234 semapv:UnspecifiedMatching -OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:FUT10 semapv:UnspecifiedMatching -OMIM:616931 FUT10 skos:exactMatch ncbigene:84750 semapv:UnspecifiedMatching -OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:19233 semapv:UnspecifiedMatching -OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:FUT11 semapv:UnspecifiedMatching -OMIM:616932 FUT11 skos:exactMatch ncbigene:170384 semapv:UnspecifiedMatching -OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:25407 semapv:UnspecifiedMatching -OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:FYTTD1 semapv:UnspecifiedMatching -OMIM:616933 FYTTD1 skos:exactMatch ncbigene:84248 semapv:UnspecifiedMatching -OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:26670 semapv:UnspecifiedMatching -OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:MEIOC semapv:UnspecifiedMatching -OMIM:616934 MEIOC skos:exactMatch ncbigene:284071 semapv:UnspecifiedMatching -OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:24666 semapv:UnspecifiedMatching -OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:FAF2 semapv:UnspecifiedMatching -OMIM:616935 FAF2 skos:exactMatch ncbigene:23197 semapv:UnspecifiedMatching -OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:25701 semapv:UnspecifiedMatching -OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:CHD9 semapv:UnspecifiedMatching -OMIM:616936 CHD9 skos:exactMatch ncbigene:80205 semapv:UnspecifiedMatching -OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:20217 semapv:UnspecifiedMatching -OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:EXD2 semapv:UnspecifiedMatching -OMIM:616940 EXD2 skos:exactMatch ncbigene:55218 semapv:UnspecifiedMatching -OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:24811 semapv:UnspecifiedMatching -OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:PDIA5 semapv:UnspecifiedMatching -OMIM:616942 PDIA5 skos:exactMatch ncbigene:10954 semapv:UnspecifiedMatching -OMIM:616944 intellectual developmental disorder, autosomal dominant 41 skos:exactMatch UMLS:C4310784 semapv:UnspecifiedMatching -OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:23046 semapv:UnspecifiedMatching -OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:CLVS2 semapv:UnspecifiedMatching -OMIM:616945 CLVS2 skos:exactMatch ncbigene:134829 semapv:UnspecifiedMatching -OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:25094 semapv:UnspecifiedMatching -OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:MTSS2 semapv:UnspecifiedMatching -OMIM:616951 MTSS2 skos:exactMatch ncbigene:92154 semapv:UnspecifiedMatching -OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:21097 semapv:UnspecifiedMatching -OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:MCUR1 semapv:UnspecifiedMatching -OMIM:616952 MCUR1 skos:exactMatch ncbigene:63933 semapv:UnspecifiedMatching -OMIM:616953 CUTA skos:exactMatch hgnc.symbol:21101 semapv:UnspecifiedMatching -OMIM:616953 CUTA skos:exactMatch hgnc.symbol:CUTA semapv:UnspecifiedMatching -OMIM:616953 CUTA skos:exactMatch ncbigene:51596 semapv:UnspecifiedMatching -OMIM:616955 REM2 skos:exactMatch hgnc.symbol:20248 semapv:UnspecifiedMatching -OMIM:616955 REM2 skos:exactMatch hgnc.symbol:REM2 semapv:UnspecifiedMatching -OMIM:616955 REM2 skos:exactMatch ncbigene:161253 semapv:UnspecifiedMatching -OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:19293 semapv:UnspecifiedMatching -OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:TPPP2 semapv:UnspecifiedMatching -OMIM:616956 TPPP2 skos:exactMatch ncbigene:122664 semapv:UnspecifiedMatching -OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:24162 semapv:UnspecifiedMatching -OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:TPPP3 semapv:UnspecifiedMatching -OMIM:616957 TPPP3 skos:exactMatch ncbigene:51673 semapv:UnspecifiedMatching -OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:21918 semapv:UnspecifiedMatching -OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:GIMAP6 semapv:UnspecifiedMatching -OMIM:616960 GIMAP6 skos:exactMatch ncbigene:474344 semapv:UnspecifiedMatching -OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:22404 semapv:UnspecifiedMatching -OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:GIMAP7 semapv:UnspecifiedMatching -OMIM:616961 GIMAP7 skos:exactMatch ncbigene:168537 semapv:UnspecifiedMatching -OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:21792 semapv:UnspecifiedMatching -OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:GIMAP8 semapv:UnspecifiedMatching -OMIM:616962 GIMAP8 skos:exactMatch ncbigene:155038 semapv:UnspecifiedMatching -OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch Orphanet:300547 semapv:UnspecifiedMatching -OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch UMLS:C4310473 semapv:UnspecifiedMatching -OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:19010 semapv:UnspecifiedMatching -OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:ADGRG5 semapv:UnspecifiedMatching -OMIM:616965 ADGRG5 skos:exactMatch ncbigene:221188 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch UMLS:C1427543 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:21398 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:ABHD6 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch ncbigene:57406 semapv:UnspecifiedMatching -OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:28218 semapv:UnspecifiedMatching -OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:TXNDC17 semapv:UnspecifiedMatching -OMIM:616967 TXNDC17 skos:exactMatch ncbigene:84817 semapv:UnspecifiedMatching -OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:28674 semapv:UnspecifiedMatching -OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:MARVELD1 semapv:UnspecifiedMatching -OMIM:616970 MARVELD1 skos:exactMatch ncbigene:83742 semapv:UnspecifiedMatching -OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:15927 semapv:UnspecifiedMatching -OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:ERGIC3 semapv:UnspecifiedMatching -OMIM:616971 ERGIC3 skos:exactMatch ncbigene:51614 semapv:UnspecifiedMatching -OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:32075 semapv:UnspecifiedMatching -OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:MIR490 semapv:UnspecifiedMatching -OMIM:616972 MIR490 skos:exactMatch ncbigene:574443 semapv:UnspecifiedMatching -OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:18736 semapv:UnspecifiedMatching -OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:TRIM40 semapv:UnspecifiedMatching -OMIM:616976 TRIM40 skos:exactMatch ncbigene:135644 semapv:UnspecifiedMatching -OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:17840 semapv:UnspecifiedMatching -OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:CHCHD5 semapv:UnspecifiedMatching -OMIM:616978 CHCHD5 skos:exactMatch ncbigene:84269 semapv:UnspecifiedMatching -OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:37261 semapv:UnspecifiedMatching -OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:DTHD1 semapv:UnspecifiedMatching -OMIM:616979 DTHD1 skos:exactMatch ncbigene:401124 semapv:UnspecifiedMatching -OMIM:616980 CYREN skos:exactMatch hgnc.symbol:22432 semapv:UnspecifiedMatching -OMIM:616980 CYREN skos:exactMatch hgnc.symbol:CYREN semapv:UnspecifiedMatching -OMIM:616980 CYREN skos:exactMatch ncbigene:78996 semapv:UnspecifiedMatching -OMIM:616981 developmental and epileptic encephalopathy 37 skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching -OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:9350 semapv:UnspecifiedMatching -OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:PRDM6 semapv:UnspecifiedMatching -OMIM:616982 PRDM6 skos:exactMatch ncbigene:93166 semapv:UnspecifiedMatching -OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:23409 semapv:UnspecifiedMatching -OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:ENPP6 semapv:UnspecifiedMatching -OMIM:616983 ENPP6 skos:exactMatch ncbigene:133121 semapv:UnspecifiedMatching -OMIM:616984 NPVF skos:exactMatch hgnc.symbol:13782 semapv:UnspecifiedMatching -OMIM:616984 NPVF skos:exactMatch hgnc.symbol:NPVF semapv:UnspecifiedMatching -OMIM:616984 NPVF skos:exactMatch ncbigene:64111 semapv:UnspecifiedMatching -OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:37155 semapv:UnspecifiedMatching -OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:MTRNR2L1 semapv:UnspecifiedMatching -OMIM:616985 MTRNR2L1 skos:exactMatch ncbigene:100462977 semapv:UnspecifiedMatching -OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:21247 semapv:UnspecifiedMatching -OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:C6orf120 semapv:UnspecifiedMatching -OMIM:616987 C6ORF120 skos:exactMatch ncbigene:387263 semapv:UnspecifiedMatching -OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:29841 semapv:UnspecifiedMatching -OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:CLLU1 semapv:UnspecifiedMatching -OMIM:616988 CLLU1 skos:exactMatch ncbigene:574028 semapv:UnspecifiedMatching -OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:24070 semapv:UnspecifiedMatching -OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:CLLU1-AS1 semapv:UnspecifiedMatching -OMIM:616989 CLLU1OS skos:exactMatch ncbigene:574016 semapv:UnspecifiedMatching -OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:2096 semapv:UnspecifiedMatching -OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:CLUL1 semapv:UnspecifiedMatching -OMIM:616990 CLUL1 skos:exactMatch ncbigene:27098 semapv:UnspecifiedMatching -OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:21661 semapv:UnspecifiedMatching -OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:MUC21 semapv:UnspecifiedMatching -OMIM:616991 MUC21 skos:exactMatch ncbigene:394263 semapv:UnspecifiedMatching -OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:17737 semapv:UnspecifiedMatching -OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:C8orf17 semapv:UnspecifiedMatching -OMIM:616992 C8ORF17 skos:exactMatch ncbigene:100507249 semapv:UnspecifiedMatching -OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:21707 semapv:UnspecifiedMatching -OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:TMEM243 semapv:UnspecifiedMatching -OMIM:616993 TMEM243 skos:exactMatch ncbigene:79161 semapv:UnspecifiedMatching -OMIM:616995 CIPC skos:exactMatch hgnc.symbol:20365 semapv:UnspecifiedMatching -OMIM:616995 CIPC skos:exactMatch hgnc.symbol:CIPC semapv:UnspecifiedMatching -OMIM:616995 CIPC skos:exactMatch ncbigene:85457 semapv:UnspecifiedMatching -OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:19028 semapv:UnspecifiedMatching -OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:TRIM56 semapv:UnspecifiedMatching -OMIM:616996 TRIM56 skos:exactMatch ncbigene:81844 semapv:UnspecifiedMatching -OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:23764 semapv:UnspecifiedMatching -OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:ENPP7 semapv:UnspecifiedMatching -OMIM:616997 ENPP7 skos:exactMatch ncbigene:339221 semapv:UnspecifiedMatching -OMIM:616998 LLPH skos:exactMatch hgnc.symbol:28229 semapv:UnspecifiedMatching -OMIM:616998 LLPH skos:exactMatch hgnc.symbol:LLPH semapv:UnspecifiedMatching -OMIM:616998 LLPH skos:exactMatch ncbigene:84298 semapv:UnspecifiedMatching -OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:27097 semapv:UnspecifiedMatching -OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:RBFOX3 semapv:UnspecifiedMatching -OMIM:616999 RBFOX3 skos:exactMatch ncbigene:146713 semapv:UnspecifiedMatching -OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:3359 semapv:UnspecifiedMatching -OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:ENPP4 semapv:UnspecifiedMatching -OMIM:617000 ENPP4 skos:exactMatch ncbigene:22875 semapv:UnspecifiedMatching -OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:13717 semapv:UnspecifiedMatching -OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:ENPP5 semapv:UnspecifiedMatching -OMIM:617001 ENPP5 skos:exactMatch ncbigene:59084 semapv:UnspecifiedMatching -OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:28095 semapv:UnspecifiedMatching -OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:BICDL1 semapv:UnspecifiedMatching -OMIM:617002 BICDL1 skos:exactMatch ncbigene:92558 semapv:UnspecifiedMatching -OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:33584 semapv:UnspecifiedMatching -OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:BICDL2 semapv:UnspecifiedMatching -OMIM:617003 BICDL2 skos:exactMatch ncbigene:146439 semapv:UnspecifiedMatching -OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:2038 semapv:UnspecifiedMatching -OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:CLDN17 semapv:UnspecifiedMatching -OMIM:617005 CLDN17 skos:exactMatch ncbigene:26285 semapv:UnspecifiedMatching -OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:16285 semapv:UnspecifiedMatching -OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:TRIM35 semapv:UnspecifiedMatching -OMIM:617007 TRIM35 skos:exactMatch ncbigene:23087 semapv:UnspecifiedMatching -OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:25691 semapv:UnspecifiedMatching -OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:ANKRD53 semapv:UnspecifiedMatching -OMIM:617009 ANKRD53 skos:exactMatch ncbigene:79998 semapv:UnspecifiedMatching -OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:15784 semapv:UnspecifiedMatching -OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:ULK4 semapv:UnspecifiedMatching -OMIM:617010 ULK4 skos:exactMatch ncbigene:54986 semapv:UnspecifiedMatching -OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:32190 semapv:UnspecifiedMatching -OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:PVRIG semapv:UnspecifiedMatching -OMIM:617012 PVRIG skos:exactMatch ncbigene:79037 semapv:UnspecifiedMatching -OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch Orphanet:521406 semapv:UnspecifiedMatching -OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching -OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:26462 semapv:UnspecifiedMatching -OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:PLCXD2 semapv:UnspecifiedMatching -OMIM:617015 PLCXD2 skos:exactMatch ncbigene:257068 semapv:UnspecifiedMatching -OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:31822 semapv:UnspecifiedMatching -OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:PLCXD3 semapv:UnspecifiedMatching -OMIM:617016 PLCXD3 skos:exactMatch ncbigene:345557 semapv:UnspecifiedMatching -OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:15876 semapv:UnspecifiedMatching -OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:TMEM230 semapv:UnspecifiedMatching -OMIM:617019 TMEM230 skos:exactMatch ncbigene:29058 semapv:UnspecifiedMatching -OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching -OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch Orphanet:464366 semapv:UnspecifiedMatching -OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch UMLS:C4310760 semapv:UnspecifiedMatching -OMIM:617025 nevus comedonicus skos:exactMatch Orphanet:64754 semapv:UnspecifiedMatching -OMIM:617025 nevus comedonicus skos:exactMatch UMLS:C0265987 semapv:UnspecifiedMatching -OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:10730 semapv:UnspecifiedMatching -OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:SEMA4B semapv:UnspecifiedMatching -OMIM:617029 SEMA4B skos:exactMatch ncbigene:10509 semapv:UnspecifiedMatching -OMIM:617030 myopathy, distal, 5 skos:exactMatch Orphanet:482601 semapv:UnspecifiedMatching -OMIM:617030 myopathy, distal, 5 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching -OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:25930 semapv:UnspecifiedMatching -OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:PRPF38A semapv:UnspecifiedMatching -OMIM:617031 PRPF38A skos:exactMatch ncbigene:84950 semapv:UnspecifiedMatching -OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:26210 semapv:UnspecifiedMatching -OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:PGGHG semapv:UnspecifiedMatching -OMIM:617032 PGGHG skos:exactMatch ncbigene:80162 semapv:UnspecifiedMatching -OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:37073 semapv:UnspecifiedMatching -OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:CASTOR2 semapv:UnspecifiedMatching -OMIM:617033 CASTOR2 skos:exactMatch ncbigene:729438 semapv:UnspecifiedMatching -OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:34423 semapv:UnspecifiedMatching -OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:CASTOR1 semapv:UnspecifiedMatching -OMIM:617034 CASTOR1 skos:exactMatch ncbigene:652968 semapv:UnspecifiedMatching -OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:16066 semapv:UnspecifiedMatching -OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:ACER3 semapv:UnspecifiedMatching -OMIM:617036 ACER3 skos:exactMatch ncbigene:55331 semapv:UnspecifiedMatching -OMIM:617037 NORAD skos:exactMatch hgnc.symbol:44311 semapv:UnspecifiedMatching -OMIM:617037 NORAD skos:exactMatch hgnc.symbol:NORAD semapv:UnspecifiedMatching -OMIM:617037 NORAD skos:exactMatch ncbigene:647979 semapv:UnspecifiedMatching -OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:50608 semapv:UnspecifiedMatching -OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:LINC01370 semapv:UnspecifiedMatching -OMIM:617038 LINC01370 skos:exactMatch ncbigene:100505663 semapv:UnspecifiedMatching -OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:33921 semapv:UnspecifiedMatching -OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:MIR1231 semapv:UnspecifiedMatching -OMIM:617040 MIR1231 skos:exactMatch ncbigene:100302158 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:529574 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch UMLS:C4310752 semapv:UnspecifiedMatching -OMIM:617042 GSDMD skos:exactMatch UMLS:C1539620 semapv:UnspecifiedMatching -OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:25697 semapv:UnspecifiedMatching -OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:GSDMD semapv:UnspecifiedMatching -OMIM:617042 GSDMD skos:exactMatch ncbigene:79792 semapv:UnspecifiedMatching -OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:21726 semapv:UnspecifiedMatching -OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:ARHGEF17 semapv:UnspecifiedMatching -OMIM:617043 ARHGEF17 skos:exactMatch ncbigene:9828 semapv:UnspecifiedMatching -OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:25883 semapv:UnspecifiedMatching -OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:ZNF703 semapv:UnspecifiedMatching -OMIM:617045 ZNF703 skos:exactMatch ncbigene:80139 semapv:UnspecifiedMatching -OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:27030 semapv:UnspecifiedMatching -OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:DNAJC21 semapv:UnspecifiedMatching -OMIM:617048 DNAJC21 skos:exactMatch ncbigene:134218 semapv:UnspecifiedMatching -OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch Orphanet:488627 semapv:UnspecifiedMatching -OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching -OMIM:617053 mirage syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching -OMIM:617053 mirage syndrome skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching -OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 semapv:UnspecifiedMatching -OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch UMLS:C4310743 semapv:UnspecifiedMatching -OMIM:617055 perching syndrome skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching -OMIM:617055 perching syndrome skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching -OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:28005 semapv:UnspecifiedMatching -OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:CTU2 semapv:UnspecifiedMatching -OMIM:617057 CTU2 skos:exactMatch ncbigene:348180 semapv:UnspecifiedMatching -OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:14175 semapv:UnspecifiedMatching -OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:TSR3 semapv:UnspecifiedMatching -OMIM:617058 TSR3 skos:exactMatch ncbigene:115939 semapv:UnspecifiedMatching -OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:29313 semapv:UnspecifiedMatching -OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:ZDBF2 semapv:UnspecifiedMatching -OMIM:617059 ZDBF2 skos:exactMatch ncbigene:57683 semapv:UnspecifiedMatching -OMIM:617060 LCTL skos:exactMatch hgnc.symbol:15583 semapv:UnspecifiedMatching -OMIM:617060 LCTL skos:exactMatch hgnc.symbol:LCTL semapv:UnspecifiedMatching -OMIM:617060 LCTL skos:exactMatch ncbigene:197021 semapv:UnspecifiedMatching -OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch Orphanet:476126 semapv:UnspecifiedMatching -OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch UMLS:C1825432 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:25799 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:GUF1 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch ncbigene:60558 semapv:UnspecifiedMatching -OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching -OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:44208 semapv:UnspecifiedMatching -OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:LYPD8 semapv:UnspecifiedMatching -OMIM:617067 LYPD8 skos:exactMatch ncbigene:646627 semapv:UnspecifiedMatching -OMIM:617074 SMCR8 skos:exactMatch UMLS:C1425178 semapv:UnspecifiedMatching -OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:17921 semapv:UnspecifiedMatching -OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:SMCR8 semapv:UnspecifiedMatching -OMIM:617074 SMCR8 skos:exactMatch ncbigene:140775 semapv:UnspecifiedMatching -OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:13949 semapv:UnspecifiedMatching -OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:FKBPL semapv:UnspecifiedMatching -OMIM:617076 FKBPL skos:exactMatch ncbigene:63943 semapv:UnspecifiedMatching -OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:29416 semapv:UnspecifiedMatching -OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:ZNF618 semapv:UnspecifiedMatching -OMIM:617077 ZNF618 skos:exactMatch ncbigene:114991 semapv:UnspecifiedMatching -OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:24450 semapv:UnspecifiedMatching -OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:DEDD2 semapv:UnspecifiedMatching -OMIM:617078 DEDD2 skos:exactMatch ncbigene:162989 semapv:UnspecifiedMatching -OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:44354 semapv:UnspecifiedMatching -OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:LINC00673 semapv:UnspecifiedMatching -OMIM:617079 LINC00673 skos:exactMatch ncbigene:100499467 semapv:UnspecifiedMatching -OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching -OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch UMLS:C1538537 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:29661 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:OMA1 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch ncbigene:115209 semapv:UnspecifiedMatching -OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:24595 semapv:UnspecifiedMatching -OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:DYNC2LI1 semapv:UnspecifiedMatching -OMIM:617083 DYNC2LI1 skos:exactMatch ncbigene:51626 semapv:UnspecifiedMatching -OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:1239 semapv:UnspecifiedMatching -OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:TMEM59 semapv:UnspecifiedMatching -OMIM:617084 TMEM59 skos:exactMatch ncbigene:9528 semapv:UnspecifiedMatching -OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:33747 semapv:UnspecifiedMatching -OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:FIBIN semapv:UnspecifiedMatching -OMIM:617085 FIBIN skos:exactMatch ncbigene:387758 semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch UMLS:C1540228 semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:24496 semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:NEPRO semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch ncbigene:25871 semapv:UnspecifiedMatching -OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching -OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch UMLS:C4310723 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch UMLS:C1825567 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch UMLS:C4310846 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch UMLS:C4310847 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:15901 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:IFT52 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch ncbigene:51098 semapv:UnspecifiedMatching -OMIM:617095 ODAD4 skos:exactMatch hgnc.symbol:25280 semapv:UnspecifiedMatching -OMIM:617095 ODAD4 skos:exactMatch hgnc.symbol:ODAD4 semapv:UnspecifiedMatching -OMIM:617095 ODAD4 skos:exactMatch ncbigene:83538 semapv:UnspecifiedMatching -OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:13237 semapv:UnspecifiedMatching -OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:TMEM59L semapv:UnspecifiedMatching -OMIM:617096 TMEM59L skos:exactMatch ncbigene:25789 semapv:UnspecifiedMatching -OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:37171 semapv:UnspecifiedMatching -OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:LINC01194 semapv:UnspecifiedMatching -OMIM:617097 LINC01194 skos:exactMatch ncbigene:404663 semapv:UnspecifiedMatching -OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:33911 semapv:UnspecifiedMatching -OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:RNASEK semapv:UnspecifiedMatching -OMIM:617098 RNASEK skos:exactMatch ncbigene:440400 semapv:UnspecifiedMatching -OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching -OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch UMLS:C4310718 semapv:UnspecifiedMatching -OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:25821 semapv:UnspecifiedMatching -OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:ZNF668 semapv:UnspecifiedMatching -OMIM:617103 ZNF668 skos:exactMatch ncbigene:79759 semapv:UnspecifiedMatching -OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:23786 semapv:UnspecifiedMatching -OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:PIP4K2C semapv:UnspecifiedMatching -OMIM:617104 PIP4K2C skos:exactMatch ncbigene:79837 semapv:UnspecifiedMatching -OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching -OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching -OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching -OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:24050 semapv:UnspecifiedMatching -OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:CREBRF semapv:UnspecifiedMatching -OMIM:617109 CREBRF skos:exactMatch ncbigene:153222 semapv:UnspecifiedMatching -OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:25740 semapv:UnspecifiedMatching -OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:CEP78 semapv:UnspecifiedMatching -OMIM:617110 CEP78 skos:exactMatch ncbigene:84131 semapv:UnspecifiedMatching -OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:29110 semapv:UnspecifiedMatching -OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:KIAA0753 semapv:UnspecifiedMatching -OMIM:617112 KIAA0753 skos:exactMatch ncbigene:9851 semapv:UnspecifiedMatching -OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching -OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching -OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:28609 semapv:UnspecifiedMatching -OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:LINC00663 semapv:UnspecifiedMatching -OMIM:617117 LINC00663 skos:exactMatch ncbigene:284440 semapv:UnspecifiedMatching -OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:220493 semapv:UnspecifiedMatching -OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching -OMIM:617121 joubert syndrome 28 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching -OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:39839 semapv:UnspecifiedMatching -OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:PCOTH semapv:UnspecifiedMatching -OMIM:617122 C1QTNF9BAS1 skos:exactMatch ncbigene:542767 semapv:UnspecifiedMatching -OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:26518 semapv:UnspecifiedMatching -OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:PM20D1 semapv:UnspecifiedMatching -OMIM:617124 PM20D1 skos:exactMatch ncbigene:148811 semapv:UnspecifiedMatching -OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:33753 semapv:UnspecifiedMatching -OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:INSYN1 semapv:UnspecifiedMatching -OMIM:617128 INSYN1 skos:exactMatch ncbigene:388135 semapv:UnspecifiedMatching -OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:33859 semapv:UnspecifiedMatching -OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:INSYN2A semapv:UnspecifiedMatching -OMIM:617129 INSYN2A skos:exactMatch ncbigene:642938 semapv:UnspecifiedMatching -OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:27441 semapv:UnspecifiedMatching -OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:MAJIN semapv:UnspecifiedMatching -OMIM:617130 MAJIN skos:exactMatch ncbigene:283129 semapv:UnspecifiedMatching -OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:28520 semapv:UnspecifiedMatching -OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:TERB2 semapv:UnspecifiedMatching -OMIM:617131 TERB2 skos:exactMatch ncbigene:145645 semapv:UnspecifiedMatching -OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching -OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:20329 semapv:UnspecifiedMatching -OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:TMCO3 semapv:UnspecifiedMatching -OMIM:617134 TMCO3 skos:exactMatch ncbigene:55002 semapv:UnspecifiedMatching -OMIM:617135 L3MBTL4 skos:exactMatch UMLS:C1537515 semapv:UnspecifiedMatching -OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:26677 semapv:UnspecifiedMatching -OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:L3MBTL4 semapv:UnspecifiedMatching -OMIM:617135 L3MBTL4 skos:exactMatch ncbigene:91133 semapv:UnspecifiedMatching -OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:52289 semapv:UnspecifiedMatching -OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:TFAP2A-AS2 semapv:UnspecifiedMatching -OMIM:617136 TFAP2AAS2 skos:exactMatch ncbigene:109729173 semapv:UnspecifiedMatching -OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch Orphanet:1826 semapv:UnspecifiedMatching -OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch UMLS:C4310697 semapv:UnspecifiedMatching -OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:32695 semapv:UnspecifiedMatching -OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:SKOR2 semapv:UnspecifiedMatching -OMIM:617138 SKOR2 skos:exactMatch ncbigene:652991 semapv:UnspecifiedMatching -OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:34447 semapv:UnspecifiedMatching -OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:LGALS7B semapv:UnspecifiedMatching -OMIM:617139 LGALS7B skos:exactMatch ncbigene:653499 semapv:UnspecifiedMatching -OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:35163 semapv:UnspecifiedMatching -OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:MIR4435-2HG semapv:UnspecifiedMatching -OMIM:617144 MIR4435-2HG skos:exactMatch ncbigene:541471 semapv:UnspecifiedMatching -OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch UMLS:C4310692 semapv:UnspecifiedMatching -OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:25766 semapv:UnspecifiedMatching -OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:CCDC14 semapv:UnspecifiedMatching -OMIM:617147 CCDC14 skos:exactMatch ncbigene:64770 semapv:UnspecifiedMatching -OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:26344 semapv:UnspecifiedMatching -OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:DEUP1 semapv:UnspecifiedMatching -OMIM:617148 DEUP1 skos:exactMatch ncbigene:159989 semapv:UnspecifiedMatching -OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:26435 semapv:UnspecifiedMatching -OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:CEP20 semapv:UnspecifiedMatching -OMIM:617149 CEP20 skos:exactMatch ncbigene:123811 semapv:UnspecifiedMatching -OMIM:617150 ZDHHC3 skos:exactMatch hgnc.symbol:18470 semapv:UnspecifiedMatching -OMIM:617150 ZDHHC3 skos:exactMatch hgnc.symbol:ZDHHC3 semapv:UnspecifiedMatching -OMIM:617150 ZDHHC3 skos:exactMatch ncbigene:51304 semapv:UnspecifiedMatching -OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:33543 semapv:UnspecifiedMatching -OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:SULT1C3 semapv:UnspecifiedMatching -OMIM:617151 SULT1C3 skos:exactMatch ncbigene:442038 semapv:UnspecifiedMatching -OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:33433 semapv:UnspecifiedMatching -OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:SULT6B1 semapv:UnspecifiedMatching -OMIM:617152 SULT6B1 skos:exactMatch ncbigene:391365 semapv:UnspecifiedMatching -OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching -OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:30817 semapv:UnspecifiedMatching -OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:MRNIP semapv:UnspecifiedMatching -OMIM:617154 MRNIP skos:exactMatch ncbigene:51149 semapv:UnspecifiedMatching -OMIM:617155 ST18 skos:exactMatch hgnc.symbol:18695 semapv:UnspecifiedMatching -OMIM:617155 ST18 skos:exactMatch hgnc.symbol:ST18 semapv:UnspecifiedMatching -OMIM:617155 ST18 skos:exactMatch ncbigene:9705 semapv:UnspecifiedMatching -OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching -OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching -OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch Orphanet:602 semapv:UnspecifiedMatching -OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch UMLS:C5399975 semapv:UnspecifiedMatching -OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:20685 semapv:UnspecifiedMatching -OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:PROM2 semapv:UnspecifiedMatching -OMIM:617160 PROM2 skos:exactMatch ncbigene:150696 semapv:UnspecifiedMatching -OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:28283 semapv:UnspecifiedMatching -OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:GSG1L semapv:UnspecifiedMatching -OMIM:617161 GSG1L skos:exactMatch ncbigene:146395 semapv:UnspecifiedMatching -OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching -OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:25978 semapv:UnspecifiedMatching -OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:RNF186 semapv:UnspecifiedMatching -OMIM:617163 RNF186 skos:exactMatch ncbigene:54546 semapv:UnspecifiedMatching -OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:28651 semapv:UnspecifiedMatching -OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:PRXL2A semapv:UnspecifiedMatching -OMIM:617165 FAM213A skos:exactMatch ncbigene:84293 semapv:UnspecifiedMatching -OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching -OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:26607 semapv:UnspecifiedMatching -OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:SLC35G1 semapv:UnspecifiedMatching -OMIM:617167 SLC35G1 skos:exactMatch ncbigene:159371 semapv:UnspecifiedMatching -OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:10664 semapv:UnspecifiedMatching -OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:CWC27 semapv:UnspecifiedMatching -OMIM:617170 CWC27 skos:exactMatch ncbigene:10283 semapv:UnspecifiedMatching -OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching -OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching -OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:33100 semapv:UnspecifiedMatching -OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:GPX8 semapv:UnspecifiedMatching -OMIM:617172 GPX8 skos:exactMatch ncbigene:493869 semapv:UnspecifiedMatching -OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:38332 semapv:UnspecifiedMatching -OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:MIR4271 semapv:UnspecifiedMatching -OMIM:617176 MIR4271 skos:exactMatch ncbigene:100422952 semapv:UnspecifiedMatching -OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:29825 semapv:UnspecifiedMatching -OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:MYL10 semapv:UnspecifiedMatching -OMIM:617177 MYL10 skos:exactMatch ncbigene:93408 semapv:UnspecifiedMatching -OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:28856 semapv:UnspecifiedMatching -OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:RNF166 semapv:UnspecifiedMatching -OMIM:617178 RNF166 skos:exactMatch ncbigene:115992 semapv:UnspecifiedMatching -OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:44048 semapv:UnspecifiedMatching -OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:PANDAR semapv:UnspecifiedMatching -OMIM:617179 PANDAR skos:exactMatch ncbigene:101154753 semapv:UnspecifiedMatching -OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:22998 semapv:UnspecifiedMatching -OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:TMC4 semapv:UnspecifiedMatching -OMIM:617181 TMC4 skos:exactMatch ncbigene:147798 semapv:UnspecifiedMatching -OMIM:617183 harel-yoon syndrome skos:exactMatch Orphanet:496790 semapv:UnspecifiedMatching -OMIM:617183 harel-yoon syndrome skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching -OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching -OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:25857 semapv:UnspecifiedMatching -OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:NSUN7 semapv:UnspecifiedMatching -OMIM:617185 NSUN7 skos:exactMatch ncbigene:79730 semapv:UnspecifiedMatching -OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:30526 semapv:UnspecifiedMatching -OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:STIMATE semapv:UnspecifiedMatching -OMIM:617189 TMEM110 skos:exactMatch ncbigene:375346 semapv:UnspecifiedMatching -OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:19725 semapv:UnspecifiedMatching -OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:PICSAR semapv:UnspecifiedMatching -OMIM:617191 PICSAR skos:exactMatch ncbigene:378825 semapv:UnspecifiedMatching -OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:22223 semapv:UnspecifiedMatching -OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:EEPD1 semapv:UnspecifiedMatching -OMIM:617192 EEPD1 skos:exactMatch ncbigene:80820 semapv:UnspecifiedMatching -OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch Orphanet:496641 semapv:UnspecifiedMatching -OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch UMLS:C4310671 semapv:UnspecifiedMatching -OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:22144 semapv:UnspecifiedMatching -OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:MUSTN1 semapv:UnspecifiedMatching -OMIM:617195 MUSTN1 skos:exactMatch ncbigene:389125 semapv:UnspecifiedMatching -OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:22995 semapv:UnspecifiedMatching -OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:TMC3 semapv:UnspecifiedMatching -OMIM:617196 TMC3 skos:exactMatch ncbigene:342125 semapv:UnspecifiedMatching -OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:22999 semapv:UnspecifiedMatching -OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:TMC5 semapv:UnspecifiedMatching -OMIM:617197 TMC5 skos:exactMatch ncbigene:79838 semapv:UnspecifiedMatching -OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:23000 semapv:UnspecifiedMatching -OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:TMC7 semapv:UnspecifiedMatching -OMIM:617198 TMC7 skos:exactMatch ncbigene:79905 semapv:UnspecifiedMatching -OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:23529 semapv:UnspecifiedMatching -OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:NSUN6 semapv:UnspecifiedMatching -OMIM:617199 NSUN6 skos:exactMatch ncbigene:221078 semapv:UnspecifiedMatching -OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:20707 semapv:UnspecifiedMatching -OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:OPALIN semapv:UnspecifiedMatching -OMIM:617200 OPALIN skos:exactMatch ncbigene:93377 semapv:UnspecifiedMatching -OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:32448 semapv:UnspecifiedMatching -OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:FOXI2 semapv:UnspecifiedMatching -OMIM:617202 FOXI2 skos:exactMatch ncbigene:399823 semapv:UnspecifiedMatching -OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:25913 semapv:UnspecifiedMatching -OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:TMEM87B semapv:UnspecifiedMatching -OMIM:617203 TMEM87B skos:exactMatch ncbigene:84910 semapv:UnspecifiedMatching -OMIM:617204 VMAC skos:exactMatch hgnc.symbol:33803 semapv:UnspecifiedMatching -OMIM:617204 VMAC skos:exactMatch hgnc.symbol:VMAC semapv:UnspecifiedMatching -OMIM:617204 VMAC skos:exactMatch ncbigene:400673 semapv:UnspecifiedMatching -OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:25162 semapv:UnspecifiedMatching -OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:NEURL3 semapv:UnspecifiedMatching -OMIM:617206 NEURL3 skos:exactMatch ncbigene:93082 semapv:UnspecifiedMatching -OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:24083 semapv:UnspecifiedMatching -OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:MAMDC4 semapv:UnspecifiedMatching -OMIM:617208 MAMDC4 skos:exactMatch ncbigene:158056 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch UMLS:C1427248 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:21020 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:QRSL1 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch ncbigene:55278 semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch UMLS:C2239482 semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch hgnc.symbol:25068 semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch hgnc.symbol:GATC semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch ncbigene:283459 semapv:UnspecifiedMatching -OMIM:617211 DMKN skos:exactMatch hgnc.symbol:25063 semapv:UnspecifiedMatching -OMIM:617211 DMKN skos:exactMatch hgnc.symbol:DMKN semapv:UnspecifiedMatching -OMIM:617211 DMKN skos:exactMatch ncbigene:93099 semapv:UnspecifiedMatching -OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:16313 semapv:UnspecifiedMatching -OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:KRTDAP semapv:UnspecifiedMatching -OMIM:617212 KRTDAP skos:exactMatch ncbigene:388533 semapv:UnspecifiedMatching -OMIM:617214 spermatogenic failure 17 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching -OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:28737 semapv:UnspecifiedMatching -OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:C17orf49 semapv:UnspecifiedMatching -OMIM:617215 C17ORF49 skos:exactMatch ncbigene:124944 semapv:UnspecifiedMatching -OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:20649 semapv:UnspecifiedMatching -OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:ZNF420 semapv:UnspecifiedMatching -OMIM:617216 ZNF420 skos:exactMatch ncbigene:147923 semapv:UnspecifiedMatching -OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:26899 semapv:UnspecifiedMatching -OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:TMTC3 semapv:UnspecifiedMatching -OMIM:617218 TMTC3 skos:exactMatch ncbigene:160418 semapv:UnspecifiedMatching -OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:26162 semapv:UnspecifiedMatching -OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:PYROXD1 semapv:UnspecifiedMatching -OMIM:617220 PYROXD1 skos:exactMatch ncbigene:79912 semapv:UnspecifiedMatching -OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:23302 semapv:UnspecifiedMatching -OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:HKDC1 semapv:UnspecifiedMatching -OMIM:617221 HKDC1 skos:exactMatch ncbigene:80201 semapv:UnspecifiedMatching -OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:27475 semapv:UnspecifiedMatching -OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:GAS2L3 semapv:UnspecifiedMatching -OMIM:617224 GAS2L3 skos:exactMatch ncbigene:283431 semapv:UnspecifiedMatching -OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch Orphanet:513436 semapv:UnspecifiedMatching -OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching -OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:19840 semapv:UnspecifiedMatching -OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:MAPK1IP1L semapv:UnspecifiedMatching -OMIM:617226 MAPK1IP1L skos:exactMatch ncbigene:93487 semapv:UnspecifiedMatching -OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:32151 semapv:UnspecifiedMatching -OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:ATAD3C semapv:UnspecifiedMatching -OMIM:617227 ATAD3C skos:exactMatch ncbigene:219293 semapv:UnspecifiedMatching -OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:31860 semapv:UnspecifiedMatching -OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:FAM53A semapv:UnspecifiedMatching -OMIM:617229 FAM53A skos:exactMatch ncbigene:152877 semapv:UnspecifiedMatching -OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:23328 semapv:UnspecifiedMatching -OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:ZFP1 semapv:UnspecifiedMatching -OMIM:617230 ZFP1 skos:exactMatch ncbigene:162239 semapv:UnspecifiedMatching -OMIM:617231 LHPP skos:exactMatch hgnc.symbol:30042 semapv:UnspecifiedMatching -OMIM:617231 LHPP skos:exactMatch hgnc.symbol:LHPP semapv:UnspecifiedMatching -OMIM:617231 LHPP skos:exactMatch ncbigene:64077 semapv:UnspecifiedMatching -OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:25495 semapv:UnspecifiedMatching -OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:WDR70 semapv:UnspecifiedMatching -OMIM:617233 WDR70 skos:exactMatch ncbigene:55100 semapv:UnspecifiedMatching -OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:48872 semapv:UnspecifiedMatching -OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:HAND2-AS1 semapv:UnspecifiedMatching -OMIM:617240 HAND2AS1 skos:exactMatch ncbigene:79804 semapv:UnspecifiedMatching -OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch UMLS:C2828772 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch hgnc.symbol:27365 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch hgnc.symbol:TECRL semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch ncbigene:253017 semapv:UnspecifiedMatching -OMIM:617244 fanconi anemia, complementation group r skos:exactMatch Orphanet:84 semapv:UnspecifiedMatching -OMIM:617244 fanconi anemia, complementation group r skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching -OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:29853 semapv:UnspecifiedMatching -OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:HECW2 semapv:UnspecifiedMatching -OMIM:617245 HECW2 skos:exactMatch ncbigene:57520 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch UMLS:C1826473 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch UMLS:C4310647 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:26513 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:NSMCE2 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch ncbigene:286053 semapv:UnspecifiedMatching -OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:23490 semapv:UnspecifiedMatching -OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:PABIR1 semapv:UnspecifiedMatching -OMIM:617249 FAM122A skos:exactMatch ncbigene:116224 semapv:UnspecifiedMatching -OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:31922 semapv:UnspecifiedMatching -OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:ERC2 semapv:UnspecifiedMatching -OMIM:617250 ERC2 skos:exactMatch ncbigene:26059 semapv:UnspecifiedMatching -OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:26683 semapv:UnspecifiedMatching -OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:LMNTD1 semapv:UnspecifiedMatching -OMIM:617254 LMNTD1 skos:exactMatch ncbigene:160492 semapv:UnspecifiedMatching -OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:23092 semapv:UnspecifiedMatching -OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:SLC7A13 semapv:UnspecifiedMatching -OMIM:617256 SLC7A13 skos:exactMatch ncbigene:157724 semapv:UnspecifiedMatching -OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:27648 semapv:UnspecifiedMatching -OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:SPATA46 semapv:UnspecifiedMatching -OMIM:617257 SPATA46 skos:exactMatch ncbigene:284680 semapv:UnspecifiedMatching -OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:30911 semapv:UnspecifiedMatching -OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:DCAF1 semapv:UnspecifiedMatching -OMIM:617259 DCAF1 skos:exactMatch ncbigene:9730 semapv:UnspecifiedMatching -OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:30536 semapv:UnspecifiedMatching -OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:DMAC1 semapv:UnspecifiedMatching -OMIM:617261 TMEM261 skos:exactMatch ncbigene:90871 semapv:UnspecifiedMatching -OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:25496 semapv:UnspecifiedMatching -OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:DMAC2 semapv:UnspecifiedMatching -OMIM:617262 ATP5SL skos:exactMatch ncbigene:55101 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch UMLS:C1538488 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:29897 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:NSMCE1 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch ncbigene:197370 semapv:UnspecifiedMatching -OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:30403 semapv:UnspecifiedMatching -OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:SCAF1 semapv:UnspecifiedMatching -OMIM:617264 SCAF1 skos:exactMatch ncbigene:58506 semapv:UnspecifiedMatching -OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:22401 semapv:UnspecifiedMatching -OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:KCTD9 semapv:UnspecifiedMatching -OMIM:617265 KCTD9 skos:exactMatch ncbigene:54793 semapv:UnspecifiedMatching -OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:28532 semapv:UnspecifiedMatching -OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:KIAA0825 semapv:UnspecifiedMatching -OMIM:617266 KIAA0825 skos:exactMatch ncbigene:285600 semapv:UnspecifiedMatching -OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:26198 semapv:UnspecifiedMatching -OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:MAIP1 semapv:UnspecifiedMatching -OMIM:617267 MAIP1 skos:exactMatch ncbigene:79568 semapv:UnspecifiedMatching -OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:27054 semapv:UnspecifiedMatching -OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:SOCS2-AS1 semapv:UnspecifiedMatching -OMIM:617269 SOCS2AS1 skos:exactMatch ncbigene:144481 semapv:UnspecifiedMatching -OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:30452 semapv:UnspecifiedMatching -OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:CIBAR1 semapv:UnspecifiedMatching -OMIM:617273 CIBAR1 skos:exactMatch ncbigene:137392 semapv:UnspecifiedMatching -OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:24781 semapv:UnspecifiedMatching -OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:CIBAR2 semapv:UnspecifiedMatching -OMIM:617274 CIBAR2 skos:exactMatch ncbigene:339145 semapv:UnspecifiedMatching -OMIM:617275 tooth agenesis, selective, 9 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching -OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching -OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:26532 semapv:UnspecifiedMatching -OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:DNHD1 semapv:UnspecifiedMatching -OMIM:617277 DNHD1 skos:exactMatch ncbigene:144132 semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch UMLS:C1426178 semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:19344 semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:DENND5A semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch ncbigene:23258 semapv:UnspecifiedMatching -OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:28338 semapv:UnspecifiedMatching -OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:DENND5B semapv:UnspecifiedMatching -OMIM:617279 DENND5B skos:exactMatch ncbigene:160518 semapv:UnspecifiedMatching -OMIM:617281 developmental and epileptic encephalopathy 49 skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching -OMIM:617283 YTHDC1 skos:exactMatch UMLS:C1823897 semapv:UnspecifiedMatching -OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:30626 semapv:UnspecifiedMatching -OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:YTHDC1 semapv:UnspecifiedMatching -OMIM:617283 YTHDC1 skos:exactMatch ncbigene:91746 semapv:UnspecifiedMatching -OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:24954 semapv:UnspecifiedMatching -OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:HMGB4 semapv:UnspecifiedMatching -OMIM:617285 HMGB4 skos:exactMatch ncbigene:127540 semapv:UnspecifiedMatching -OMIM:617286 PANCR skos:exactMatch hgnc.symbol:52282 semapv:UnspecifiedMatching -OMIM:617286 PANCR skos:exactMatch hgnc.symbol:PANCR semapv:UnspecifiedMatching -OMIM:617286 PANCR skos:exactMatch ncbigene:110231149 semapv:UnspecifiedMatching -OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:31703 semapv:UnspecifiedMatching -OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:PLPPR5 semapv:UnspecifiedMatching -OMIM:617287 PLPPR5 skos:exactMatch ncbigene:163404 semapv:UnspecifiedMatching -OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:24643 semapv:UnspecifiedMatching -OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:SPINK7 semapv:UnspecifiedMatching -OMIM:617288 SPINK7 skos:exactMatch ncbigene:84651 semapv:UnspecifiedMatching -OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:28968 semapv:UnspecifiedMatching -OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:FAM53B semapv:UnspecifiedMatching -OMIM:617289 FAM53B skos:exactMatch ncbigene:9679 semapv:UnspecifiedMatching -OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:34415 semapv:UnspecifiedMatching -OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:TMEM150B semapv:UnspecifiedMatching -OMIM:617291 TMEM150B skos:exactMatch ncbigene:284417 semapv:UnspecifiedMatching -OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:37263 semapv:UnspecifiedMatching -OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:TMEM150C semapv:UnspecifiedMatching -OMIM:617292 TMEM150C skos:exactMatch ncbigene:441027 semapv:UnspecifiedMatching -OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:7542 semapv:UnspecifiedMatching -OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:MXRA8 semapv:UnspecifiedMatching -OMIM:617293 MXRA8 skos:exactMatch ncbigene:54587 semapv:UnspecifiedMatching -OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:30286 semapv:UnspecifiedMatching -OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:RUNDC3B semapv:UnspecifiedMatching -OMIM:617295 RUNDC3B skos:exactMatch ncbigene:154661 semapv:UnspecifiedMatching -OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:26398 semapv:UnspecifiedMatching -OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:AIFM3 semapv:UnspecifiedMatching -OMIM:617298 AIFM3 skos:exactMatch ncbigene:150209 semapv:UnspecifiedMatching -OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:28641 semapv:UnspecifiedMatching -OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:RPAIN semapv:UnspecifiedMatching -OMIM:617299 RPAIN skos:exactMatch ncbigene:84268 semapv:UnspecifiedMatching -OMIM:617300 lymphatic malformation 7 skos:exactMatch UMLS:C4310629 semapv:UnspecifiedMatching -OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching -OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching -OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:33391 semapv:UnspecifiedMatching -OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:CALHM6 semapv:UnspecifiedMatching -OMIM:617305 FAM26F skos:exactMatch ncbigene:441168 semapv:UnspecifiedMatching -OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:19849 semapv:UnspecifiedMatching -OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:C14orf39 semapv:UnspecifiedMatching -OMIM:617307 C14ORF39 skos:exactMatch ncbigene:317761 semapv:UnspecifiedMatching -OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:24607 semapv:UnspecifiedMatching -OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:IGFN1 semapv:UnspecifiedMatching -OMIM:617309 IGFN1 skos:exactMatch ncbigene:91156 semapv:UnspecifiedMatching -OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:29422 semapv:UnspecifiedMatching -OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:ANKS3 semapv:UnspecifiedMatching -OMIM:617310 ANKS3 skos:exactMatch ncbigene:124401 semapv:UnspecifiedMatching -OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:30961 semapv:UnspecifiedMatching -OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:ZG16 semapv:UnspecifiedMatching -OMIM:617311 ZG16 skos:exactMatch ncbigene:653808 semapv:UnspecifiedMatching -OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:29320 semapv:UnspecifiedMatching -OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:FHIP2A semapv:UnspecifiedMatching -OMIM:617312 FHIP2A skos:exactMatch ncbigene:57700 semapv:UnspecifiedMatching -OMIM:617313 SHF skos:exactMatch hgnc.symbol:25116 semapv:UnspecifiedMatching -OMIM:617313 SHF skos:exactMatch hgnc.symbol:SHF semapv:UnspecifiedMatching -OMIM:617313 SHF skos:exactMatch ncbigene:90525 semapv:UnspecifiedMatching -OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:29546 semapv:UnspecifiedMatching -OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:SH3YL1 semapv:UnspecifiedMatching -OMIM:617314 SH3YL1 skos:exactMatch ncbigene:26751 semapv:UnspecifiedMatching -OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:15856 semapv:UnspecifiedMatching -OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:TP53TG5 semapv:UnspecifiedMatching -OMIM:617316 TP53TG5 skos:exactMatch ncbigene:27296 semapv:UnspecifiedMatching -OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:29555 semapv:UnspecifiedMatching -OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:ZFP30 semapv:UnspecifiedMatching -OMIM:617317 ZFP30 skos:exactMatch ncbigene:22835 semapv:UnspecifiedMatching -OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:17153 semapv:UnspecifiedMatching -OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:RUSC1 semapv:UnspecifiedMatching -OMIM:617318 RUSC1 skos:exactMatch ncbigene:23623 semapv:UnspecifiedMatching -OMIM:617321 yao syndrome skos:exactMatch UMLS:C4310620 semapv:UnspecifiedMatching -OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:19214 semapv:UnspecifiedMatching -OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:SHKBP1 semapv:UnspecifiedMatching -OMIM:617322 SHKBP1 skos:exactMatch ncbigene:92799 semapv:UnspecifiedMatching -OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:20366 semapv:UnspecifiedMatching -OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:SHISA2 semapv:UnspecifiedMatching -OMIM:617324 SHISA2 skos:exactMatch ncbigene:387914 semapv:UnspecifiedMatching -OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:25159 semapv:UnspecifiedMatching -OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:SHISA3 semapv:UnspecifiedMatching -OMIM:617325 SHISA3 skos:exactMatch ncbigene:152573 semapv:UnspecifiedMatching -OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:27139 semapv:UnspecifiedMatching -OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:SHISA4 semapv:UnspecifiedMatching -OMIM:617326 SHISA4 skos:exactMatch ncbigene:149345 semapv:UnspecifiedMatching -OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:34491 semapv:UnspecifiedMatching -OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:SHISA6 semapv:UnspecifiedMatching -OMIM:617327 SHISA6 skos:exactMatch ncbigene:388336 semapv:UnspecifiedMatching -OMIM:617328 SHISA7 skos:exactMatch UMLS:C2828684 semapv:UnspecifiedMatching -OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:35409 semapv:UnspecifiedMatching -OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:SHISA7 semapv:UnspecifiedMatching -OMIM:617328 SHISA7 skos:exactMatch ncbigene:729956 semapv:UnspecifiedMatching -OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:18351 semapv:UnspecifiedMatching -OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:SHISA8 semapv:UnspecifiedMatching -OMIM:617329 SHISA8 skos:exactMatch ncbigene:440829 semapv:UnspecifiedMatching -OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:21053 semapv:UnspecifiedMatching -OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:MFSD4B semapv:UnspecifiedMatching -OMIM:617331 MFSD4B skos:exactMatch ncbigene:91749 semapv:UnspecifiedMatching -OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:26675 semapv:UnspecifiedMatching -OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:TERB1 semapv:UnspecifiedMatching -OMIM:617332 TERB1 skos:exactMatch ncbigene:283847 semapv:UnspecifiedMatching -OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch UMLS:C4310617 semapv:UnspecifiedMatching -OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:28654 semapv:UnspecifiedMatching -OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:ZDHHC23 semapv:UnspecifiedMatching -OMIM:617334 ZDHHC23 skos:exactMatch ncbigene:254887 semapv:UnspecifiedMatching -OMIM:617335 EBPL skos:exactMatch hgnc.symbol:18061 semapv:UnspecifiedMatching -OMIM:617335 EBPL skos:exactMatch hgnc.symbol:EBPL semapv:UnspecifiedMatching -OMIM:617335 EBPL skos:exactMatch ncbigene:84650 semapv:UnspecifiedMatching -OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:28154 semapv:UnspecifiedMatching -OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:NUDT16L1 semapv:UnspecifiedMatching -OMIM:617338 NUDT16L1 skos:exactMatch ncbigene:84309 semapv:UnspecifiedMatching -OMIM:617339 developmental and epileptic encephalopathy 51 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching -OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:23061 semapv:UnspecifiedMatching -OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:UPP2 semapv:UnspecifiedMatching -OMIM:617340 UPP2 skos:exactMatch ncbigene:151531 semapv:UnspecifiedMatching -OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:33782 semapv:UnspecifiedMatching -OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:PTRHD1 semapv:UnspecifiedMatching -OMIM:617342 PTRHD1 skos:exactMatch ncbigene:391356 semapv:UnspecifiedMatching -OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:25438 semapv:UnspecifiedMatching -OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:PRAG1 semapv:UnspecifiedMatching -OMIM:617344 PRAG1 skos:exactMatch ncbigene:157285 semapv:UnspecifiedMatching -OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:26296 semapv:UnspecifiedMatching -OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:AGBL2 semapv:UnspecifiedMatching -OMIM:617345 AGBL2 skos:exactMatch ncbigene:79841 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch UMLS:C1826609 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:27981 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:AGBL3 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch ncbigene:340351 semapv:UnspecifiedMatching -OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:26977 semapv:UnspecifiedMatching -OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:CPXM2 semapv:UnspecifiedMatching -OMIM:617348 CPXM2 skos:exactMatch ncbigene:119587 semapv:UnspecifiedMatching -OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching -OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:26384 semapv:UnspecifiedMatching -OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:IGSF10 semapv:UnspecifiedMatching -OMIM:617351 IGSF10 skos:exactMatch ncbigene:285313 semapv:UnspecifiedMatching -OMIM:617353 DYNLT2B skos:exactMatch hgnc.symbol:28482 semapv:UnspecifiedMatching -OMIM:617353 DYNLT2B skos:exactMatch hgnc.symbol:DYNLT2B semapv:UnspecifiedMatching -OMIM:617353 DYNLT2B skos:exactMatch ncbigene:255758 semapv:UnspecifiedMatching -OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:15962 semapv:UnspecifiedMatching -OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:CBX8 semapv:UnspecifiedMatching -OMIM:617354 CBX8 skos:exactMatch ncbigene:57332 semapv:UnspecifiedMatching -OMIM:617355 EID2B skos:exactMatch hgnc.symbol:26796 semapv:UnspecifiedMatching -OMIM:617355 EID2B skos:exactMatch hgnc.symbol:EID2B semapv:UnspecifiedMatching -OMIM:617355 EID2B skos:exactMatch ncbigene:126272 semapv:UnspecifiedMatching -OMIM:617356 SSPO skos:exactMatch hgnc.symbol:21998 semapv:UnspecifiedMatching -OMIM:617356 SSPO skos:exactMatch hgnc.symbol:SSPOP semapv:UnspecifiedMatching -OMIM:617356 SSPO skos:exactMatch ncbigene:23145 semapv:UnspecifiedMatching -OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:13015 semapv:UnspecifiedMatching -OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:ZNF222 semapv:UnspecifiedMatching -OMIM:617357 ZNF222 skos:exactMatch ncbigene:7673 semapv:UnspecifiedMatching -OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:15756 semapv:UnspecifiedMatching -OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:SDCBP2 semapv:UnspecifiedMatching -OMIM:617358 SDCBP2 skos:exactMatch ncbigene:27111 semapv:UnspecifiedMatching -OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:25450 semapv:UnspecifiedMatching -OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:STOX2 semapv:UnspecifiedMatching -OMIM:617359 STOX2 skos:exactMatch ncbigene:56977 semapv:UnspecifiedMatching -OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:28451 semapv:UnspecifiedMatching -OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:TMEM108 semapv:UnspecifiedMatching -OMIM:617361 TMEM108 skos:exactMatch ncbigene:66000 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C1424824 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C5231546 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C5231547 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch UMLS:C5231548 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:17210 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:DHX37 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch ncbigene:57647 semapv:UnspecifiedMatching -OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:31092 semapv:UnspecifiedMatching -OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:TMEM132A semapv:UnspecifiedMatching -OMIM:617363 TMEM132A skos:exactMatch ncbigene:54972 semapv:UnspecifiedMatching -OMIM:617365 AAR2 skos:exactMatch UMLS:C1423806 semapv:UnspecifiedMatching -OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:15886 semapv:UnspecifiedMatching -OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:AAR2 semapv:UnspecifiedMatching -OMIM:617365 AAR2 skos:exactMatch ncbigene:25980 semapv:UnspecifiedMatching -OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:24855 semapv:UnspecifiedMatching -OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:CCDC91 semapv:UnspecifiedMatching -OMIM:617366 CCDC91 skos:exactMatch ncbigene:55297 semapv:UnspecifiedMatching -OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:25428 semapv:UnspecifiedMatching -OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:KIAA1217 semapv:UnspecifiedMatching -OMIM:617367 KIAA1217 skos:exactMatch ncbigene:56243 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch UMLS:C1420021 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch UMLS:C4479253 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:10824 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:SH3BP1 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch ncbigene:23616 semapv:UnspecifiedMatching -OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:17062 semapv:UnspecifiedMatching -OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:HABP4 semapv:UnspecifiedMatching -OMIM:617369 HABP4 skos:exactMatch ncbigene:22927 semapv:UnspecifiedMatching -OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:21684 semapv:UnspecifiedMatching -OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:ZNF462 semapv:UnspecifiedMatching -OMIM:617371 ZNF462 skos:exactMatch ncbigene:58499 semapv:UnspecifiedMatching -OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:16743 semapv:UnspecifiedMatching -OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:SHC4 semapv:UnspecifiedMatching -OMIM:617372 SHC4 skos:exactMatch ncbigene:399694 semapv:UnspecifiedMatching -OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:24903 semapv:UnspecifiedMatching -OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:PRRC2C semapv:UnspecifiedMatching -OMIM:617373 PRRC2C skos:exactMatch ncbigene:23215 semapv:UnspecifiedMatching -OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:32224 semapv:UnspecifiedMatching -OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:INCA1 semapv:UnspecifiedMatching -OMIM:617374 INCA1 skos:exactMatch ncbigene:388324 semapv:UnspecifiedMatching -OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:28489 semapv:UnspecifiedMatching -OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:KLHDC9 semapv:UnspecifiedMatching -OMIM:617375 KLHDC9 skos:exactMatch ncbigene:126823 semapv:UnspecifiedMatching -OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:28600 semapv:UnspecifiedMatching -OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:PROCA1 semapv:UnspecifiedMatching -OMIM:617376 PROCA1 skos:exactMatch ncbigene:147011 semapv:UnspecifiedMatching -OMIM:617377 SYDE1 skos:exactMatch UMLS:C1823159 semapv:UnspecifiedMatching -OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:25824 semapv:UnspecifiedMatching -OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:SYDE1 semapv:UnspecifiedMatching -OMIM:617377 SYDE1 skos:exactMatch ncbigene:85360 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch UMLS:C2681932 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:29824 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:MYL11 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch ncbigene:29895 semapv:UnspecifiedMatching -OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:26234 semapv:UnspecifiedMatching -OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:MYO19 semapv:UnspecifiedMatching -OMIM:617379 MYO19 skos:exactMatch ncbigene:80179 semapv:UnspecifiedMatching -OMIM:617380 TIMM29 skos:exactMatch UMLS:C4321054 semapv:UnspecifiedMatching -OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:25152 semapv:UnspecifiedMatching -OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:TIMM29 semapv:UnspecifiedMatching -OMIM:617380 TIMM29 skos:exactMatch ncbigene:90580 semapv:UnspecifiedMatching -OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:26442 semapv:UnspecifiedMatching -OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:NUDT16 semapv:UnspecifiedMatching -OMIM:617381 NUDT16 skos:exactMatch ncbigene:131870 semapv:UnspecifiedMatching -OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:10666 semapv:UnspecifiedMatching -OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:STARD10 semapv:UnspecifiedMatching -OMIM:617382 STARD10 skos:exactMatch ncbigene:10809 semapv:UnspecifiedMatching -OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:18125 semapv:UnspecifiedMatching -OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:ATP6V1E2 semapv:UnspecifiedMatching -OMIM:617385 ATP6V1E2 skos:exactMatch ncbigene:90423 semapv:UnspecifiedMatching -OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:32673 semapv:UnspecifiedMatching -OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:NR1H5P semapv:UnspecifiedMatching -OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:24713 semapv:UnspecifiedMatching -OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:QRICH1 semapv:UnspecifiedMatching -OMIM:617387 QRICH1 skos:exactMatch ncbigene:54870 semapv:UnspecifiedMatching -OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching -OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:23427 semapv:UnspecifiedMatching -OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:KIAA1958 semapv:UnspecifiedMatching -OMIM:617390 KIAA1958 skos:exactMatch ncbigene:158405 semapv:UnspecifiedMatching -OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching -OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching -OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching -OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:23397 semapv:UnspecifiedMatching -OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:FKBP15 semapv:UnspecifiedMatching -OMIM:617398 FKBP15 skos:exactMatch ncbigene:23307 semapv:UnspecifiedMatching -OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:9716 semapv:UnspecifiedMatching -OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:PXMP2 semapv:UnspecifiedMatching -OMIM:617399 PXMP2 skos:exactMatch ncbigene:5827 semapv:UnspecifiedMatching -OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:23760 semapv:UnspecifiedMatching -OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:EPHX3 semapv:UnspecifiedMatching -OMIM:617400 EPHX3 skos:exactMatch ncbigene:79852 semapv:UnspecifiedMatching -OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:23758 semapv:UnspecifiedMatching -OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:EPHX4 semapv:UnspecifiedMatching -OMIM:617401 EPHX4 skos:exactMatch ncbigene:253152 semapv:UnspecifiedMatching -OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching -OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching -OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching -OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching -OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:28264 semapv:UnspecifiedMatching -OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:PCGF5 semapv:UnspecifiedMatching -OMIM:617407 PCGF5 skos:exactMatch ncbigene:84333 semapv:UnspecifiedMatching -OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:20648 semapv:UnspecifiedMatching -OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:ZNF419 semapv:UnspecifiedMatching -OMIM:617410 ZNF419 skos:exactMatch ncbigene:79744 semapv:UnspecifiedMatching -OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:21213 semapv:UnspecifiedMatching -OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:ARFGEF3 semapv:UnspecifiedMatching -OMIM:617411 ARFGEF3 skos:exactMatch ncbigene:57221 semapv:UnspecifiedMatching -OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:13420 semapv:UnspecifiedMatching -OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:PRUNE1 semapv:UnspecifiedMatching -OMIM:617413 PRUNE1 skos:exactMatch ncbigene:58497 semapv:UnspecifiedMatching -OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:10305 semapv:UnspecifiedMatching -OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:RPL14 semapv:UnspecifiedMatching -OMIM:617414 RPL14 skos:exactMatch ncbigene:9045 semapv:UnspecifiedMatching -OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:10334 semapv:UnspecifiedMatching -OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:RPL31 semapv:UnspecifiedMatching -OMIM:617415 RPL31 skos:exactMatch ncbigene:6160 semapv:UnspecifiedMatching -OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:10351 semapv:UnspecifiedMatching -OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:RPL3L semapv:UnspecifiedMatching -OMIM:617416 RPL3L skos:exactMatch ncbigene:6123 semapv:UnspecifiedMatching -OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:21370 semapv:UnspecifiedMatching -OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:RPL7L1 semapv:UnspecifiedMatching -OMIM:617417 RPL7L1 skos:exactMatch ncbigene:285855 semapv:UnspecifiedMatching -OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:25706 semapv:UnspecifiedMatching -OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:WDR59 semapv:UnspecifiedMatching -OMIM:617418 WDR59 skos:exactMatch ncbigene:79726 semapv:UnspecifiedMatching -OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:16946 semapv:UnspecifiedMatching -OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:P3H4 semapv:UnspecifiedMatching -OMIM:617419 P3H4 skos:exactMatch ncbigene:10609 semapv:UnspecifiedMatching -OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:26517 semapv:UnspecifiedMatching -OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:KICS2 semapv:UnspecifiedMatching -OMIM:617420 KICS2 skos:exactMatch ncbigene:144577 semapv:UnspecifiedMatching -OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:30879 semapv:UnspecifiedMatching -OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:ITFG2 semapv:UnspecifiedMatching -OMIM:617421 ITFG2 skos:exactMatch ncbigene:55846 semapv:UnspecifiedMatching -OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:23803 semapv:UnspecifiedMatching -OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:ADNP2 semapv:UnspecifiedMatching -OMIM:617422 ADNP2 skos:exactMatch ncbigene:22850 semapv:UnspecifiedMatching -OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:28458 semapv:UnspecifiedMatching -OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:PRR14 semapv:UnspecifiedMatching -OMIM:617423 PRR14 skos:exactMatch ncbigene:78994 semapv:UnspecifiedMatching -OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:21208 semapv:UnspecifiedMatching -OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:WDR26 semapv:UnspecifiedMatching -OMIM:617424 WDR26 skos:exactMatch ncbigene:80232 semapv:UnspecifiedMatching -OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:29875 semapv:UnspecifiedMatching -OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:CRCT1 semapv:UnspecifiedMatching -OMIM:617426 CRCT1 skos:exactMatch ncbigene:54544 semapv:UnspecifiedMatching -OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:21657 semapv:UnspecifiedMatching -OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:S100A7A semapv:UnspecifiedMatching -OMIM:617427 S100A7A skos:exactMatch ncbigene:338324 semapv:UnspecifiedMatching -OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:29876 semapv:UnspecifiedMatching -OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:C1orf43 semapv:UnspecifiedMatching -OMIM:617428 C1ORF43 skos:exactMatch ncbigene:25912 semapv:UnspecifiedMatching -OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:15698 semapv:UnspecifiedMatching -OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:UBE2Q1 semapv:UnspecifiedMatching -OMIM:617429 UBE2Q1 skos:exactMatch ncbigene:55585 semapv:UnspecifiedMatching -OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:18990 semapv:UnspecifiedMatching -OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:ADGRF1 semapv:UnspecifiedMatching -OMIM:617430 ADGRF1 skos:exactMatch ncbigene:266977 semapv:UnspecifiedMatching -OMIM:617431 USP53 skos:exactMatch hgnc.symbol:29255 semapv:UnspecifiedMatching -OMIM:617431 USP53 skos:exactMatch hgnc.symbol:USP53 semapv:UnspecifiedMatching -OMIM:617431 USP53 skos:exactMatch ncbigene:54532 semapv:UnspecifiedMatching -OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:51354 semapv:UnspecifiedMatching -OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:CERNA2 semapv:UnspecifiedMatching -OMIM:617434 long noncoding RNA host2 skos:exactMatch ncbigene:642934 semapv:UnspecifiedMatching -OMIM:617436 GON7 skos:exactMatch UMLS:C4320392 semapv:UnspecifiedMatching -OMIM:617436 GON7 skos:exactMatch hgnc.symbol:20356 semapv:UnspecifiedMatching -OMIM:617436 GON7 skos:exactMatch hgnc.symbol:GON7 semapv:UnspecifiedMatching -OMIM:617436 GON7 skos:exactMatch ncbigene:84520 semapv:UnspecifiedMatching -OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:20441 semapv:UnspecifiedMatching -OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:S100A16 semapv:UnspecifiedMatching -OMIM:617437 S100A16 skos:exactMatch ncbigene:140576 semapv:UnspecifiedMatching -OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:1556 semapv:UnspecifiedMatching -OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:CBX6 semapv:UnspecifiedMatching -OMIM:617438 CBX6 skos:exactMatch ncbigene:23466 semapv:UnspecifiedMatching -OMIM:617440 PTCSC1 skos:exactMatch hgnc.symbol:37127 semapv:UnspecifiedMatching -OMIM:617440 PTCSC1 skos:exactMatch hgnc.symbol:PTCSC1 semapv:UnspecifiedMatching -OMIM:617440 PTCSC1 skos:exactMatch ncbigene:100302522 semapv:UnspecifiedMatching -OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:23258 semapv:UnspecifiedMatching -OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:ZNF479 semapv:UnspecifiedMatching -OMIM:617444 ZNF479 skos:exactMatch ncbigene:90827 semapv:UnspecifiedMatching -OMIM:617445 USP48 skos:exactMatch hgnc.symbol:18533 semapv:UnspecifiedMatching -OMIM:617445 USP48 skos:exactMatch hgnc.symbol:USP48 semapv:UnspecifiedMatching -OMIM:617445 USP48 skos:exactMatch ncbigene:84196 semapv:UnspecifiedMatching -OMIM:617446 CHAC2 skos:exactMatch UMLS:C1824731 semapv:UnspecifiedMatching -OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:32363 semapv:UnspecifiedMatching -OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:CHAC2 semapv:UnspecifiedMatching -OMIM:617446 CHAC2 skos:exactMatch ncbigene:494143 semapv:UnspecifiedMatching -OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:20074 semapv:UnspecifiedMatching -OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:PAN2 semapv:UnspecifiedMatching -OMIM:617447 PAN2 skos:exactMatch ncbigene:9924 semapv:UnspecifiedMatching -OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:29991 semapv:UnspecifiedMatching -OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:PAN3 semapv:UnspecifiedMatching -OMIM:617448 PAN3 skos:exactMatch ncbigene:255967 semapv:UnspecifiedMatching -OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:20185 semapv:UnspecifiedMatching -OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:TMEM260 semapv:UnspecifiedMatching -OMIM:617449 TMEM260 skos:exactMatch ncbigene:54916 semapv:UnspecifiedMatching -OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:23437 semapv:UnspecifiedMatching -OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:AKR1E2 semapv:UnspecifiedMatching -OMIM:617451 AKR1E2 skos:exactMatch ncbigene:83592 semapv:UnspecifiedMatching -OMIM:617453 TTC26 skos:exactMatch hgnc.symbol:IFT56 semapv:UnspecifiedMatching -OMIM:617453 TTC26 skos:exactMatch ncbigene:79989 semapv:UnspecifiedMatching -OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:30076 semapv:UnspecifiedMatching -OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:POLR3C semapv:UnspecifiedMatching -OMIM:617454 POLR3C skos:exactMatch ncbigene:10623 semapv:UnspecifiedMatching -OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:15763 semapv:UnspecifiedMatching -OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:POLR3F semapv:UnspecifiedMatching -OMIM:617455 POLR3F skos:exactMatch ncbigene:10621 semapv:UnspecifiedMatching -OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:30075 semapv:UnspecifiedMatching -OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:POLR3G semapv:UnspecifiedMatching -OMIM:617456 POLR3G skos:exactMatch ncbigene:10622 semapv:UnspecifiedMatching -OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:28466 semapv:UnspecifiedMatching -OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:POLR3GL semapv:UnspecifiedMatching -OMIM:617457 POLR3GL skos:exactMatch ncbigene:84265 semapv:UnspecifiedMatching -OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:21894 semapv:UnspecifiedMatching -OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:PRKRIP1 semapv:UnspecifiedMatching -OMIM:617458 PRKRIP1 skos:exactMatch ncbigene:79706 semapv:UnspecifiedMatching -OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:29199 semapv:UnspecifiedMatching -OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:TMCC3 semapv:UnspecifiedMatching -OMIM:617459 TMCC3 skos:exactMatch ncbigene:57458 semapv:UnspecifiedMatching -OMIM:617461 YBEY skos:exactMatch hgnc.symbol:1299 semapv:UnspecifiedMatching -OMIM:617461 YBEY skos:exactMatch hgnc.symbol:YBEY semapv:UnspecifiedMatching -OMIM:617461 YBEY skos:exactMatch ncbigene:54059 semapv:UnspecifiedMatching -OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:30025 semapv:UnspecifiedMatching -OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:PPRC1 semapv:UnspecifiedMatching -OMIM:617462 PPRC1 skos:exactMatch ncbigene:23082 semapv:UnspecifiedMatching -OMIM:617463 UNKL skos:exactMatch UMLS:C1422471 semapv:UnspecifiedMatching -OMIM:617463 UNKL skos:exactMatch hgnc.symbol:14184 semapv:UnspecifiedMatching -OMIM:617463 UNKL skos:exactMatch hgnc.symbol:UNKL semapv:UnspecifiedMatching -OMIM:617463 UNKL skos:exactMatch ncbigene:64718 semapv:UnspecifiedMatching -OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:21203 semapv:UnspecifiedMatching -OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:UNC5CL semapv:UnspecifiedMatching -OMIM:617464 UNC5CL skos:exactMatch ncbigene:222643 semapv:UnspecifiedMatching -OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:37260 semapv:UnspecifiedMatching -OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:SMIM20 semapv:UnspecifiedMatching -OMIM:617465 SMIM20 skos:exactMatch ncbigene:389203 semapv:UnspecifiedMatching -OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:24886 semapv:UnspecifiedMatching -OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:FRMD4B semapv:UnspecifiedMatching -OMIM:617467 FRMD4B skos:exactMatch ncbigene:23150 semapv:UnspecifiedMatching -OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching -OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching -OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:16411 semapv:UnspecifiedMatching -OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:AFG1L semapv:UnspecifiedMatching -OMIM:617469 AFG1L skos:exactMatch ncbigene:246269 semapv:UnspecifiedMatching -OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:20294 semapv:UnspecifiedMatching -OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:USPL1 semapv:UnspecifiedMatching -OMIM:617470 USPL1 skos:exactMatch ncbigene:10208 semapv:UnspecifiedMatching -OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:18359 semapv:UnspecifiedMatching -OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:SERPINA12 semapv:UnspecifiedMatching -OMIM:617471 SERPINA12 skos:exactMatch ncbigene:145264 semapv:UnspecifiedMatching -OMIM:617472 TNN skos:exactMatch hgnc.symbol:22942 semapv:UnspecifiedMatching -OMIM:617472 TNN skos:exactMatch hgnc.symbol:TNN semapv:UnspecifiedMatching -OMIM:617472 TNN skos:exactMatch ncbigene:63923 semapv:UnspecifiedMatching -OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:14247 semapv:UnspecifiedMatching -OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:ATP5MG semapv:UnspecifiedMatching -OMIM:617473 ATP5L skos:exactMatch ncbigene:10632 semapv:UnspecifiedMatching -OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:29003 semapv:UnspecifiedMatching -OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:ZNF609 semapv:UnspecifiedMatching -OMIM:617474 ZNF609 skos:exactMatch ncbigene:23060 semapv:UnspecifiedMatching -OMIM:617475 specific granule deficiency 2 skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching -OMIM:617475 specific granule deficiency 2 skos:exactMatch UMLS:C4479548 semapv:UnspecifiedMatching -OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:23034 semapv:UnspecifiedMatching -OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:CNKSR3 semapv:UnspecifiedMatching -OMIM:617476 CNKSR3 skos:exactMatch ncbigene:154043 semapv:UnspecifiedMatching -OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:14096 semapv:UnspecifiedMatching -OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:ZNF324 semapv:UnspecifiedMatching -OMIM:617477 ZNF324 skos:exactMatch ncbigene:25799 semapv:UnspecifiedMatching -OMIM:617479 SSUH2 skos:exactMatch hgnc.symbol:24809 semapv:UnspecifiedMatching -OMIM:617479 SSUH2 skos:exactMatch hgnc.symbol:SSUH2 semapv:UnspecifiedMatching -OMIM:617479 SSUH2 skos:exactMatch ncbigene:51066 semapv:UnspecifiedMatching -OMIM:617480 46,xx sex reversal 4 skos:exactMatch UMLS:C4479552 semapv:UnspecifiedMatching -OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:30759 semapv:UnspecifiedMatching -OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:TP53TG3 semapv:UnspecifiedMatching -OMIM:617482 TP53TG3 skos:exactMatch ncbigene:24150 semapv:UnspecifiedMatching -OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:25013 semapv:UnspecifiedMatching -OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:CNIH4 semapv:UnspecifiedMatching -OMIM:617483 CNIH4 skos:exactMatch ncbigene:29097 semapv:UnspecifiedMatching -OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:26565 semapv:UnspecifiedMatching -OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:GTSF1 semapv:UnspecifiedMatching -OMIM:617484 GTSF1 skos:exactMatch ncbigene:121355 semapv:UnspecifiedMatching -OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:20751 semapv:UnspecifiedMatching -OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:WDFY3 semapv:UnspecifiedMatching -OMIM:617485 WDFY3 skos:exactMatch ncbigene:23001 semapv:UnspecifiedMatching -OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:25720 semapv:UnspecifiedMatching -OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:GPATCH3 semapv:UnspecifiedMatching -OMIM:617486 GPATCH3 skos:exactMatch ncbigene:63906 semapv:UnspecifiedMatching -OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:25881 semapv:UnspecifiedMatching -OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:DNAJB14 semapv:UnspecifiedMatching -OMIM:617487 DNAJB14 skos:exactMatch ncbigene:79982 semapv:UnspecifiedMatching -OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:25898 semapv:UnspecifiedMatching -OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:RPUSD4 semapv:UnspecifiedMatching -OMIM:617488 RPUSD4 skos:exactMatch ncbigene:84881 semapv:UnspecifiedMatching -OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:28597 semapv:UnspecifiedMatching -OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:LINC00305 semapv:UnspecifiedMatching -OMIM:617489 LINC00305 skos:exactMatch ncbigene:221241 semapv:UnspecifiedMatching -OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:28598 semapv:UnspecifiedMatching -OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:CATSPERD semapv:UnspecifiedMatching -OMIM:617490 CATSPERD skos:exactMatch ncbigene:257062 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch UMLS:C1538490 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:26208 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:NSUN3 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch ncbigene:63899 semapv:UnspecifiedMatching -OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:17189 semapv:UnspecifiedMatching -OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:OLFM2 semapv:UnspecifiedMatching -OMIM:617492 OLFM2 skos:exactMatch ncbigene:93145 semapv:UnspecifiedMatching -OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching -OMIM:617494 EML2 skos:exactMatch hgnc.symbol:18035 semapv:UnspecifiedMatching -OMIM:617494 EML2 skos:exactMatch hgnc.symbol:EML2 semapv:UnspecifiedMatching -OMIM:617494 EML2 skos:exactMatch ncbigene:24139 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:21587 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:TAFA1 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch ncbigene:407738 semapv:UnspecifiedMatching -OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:21589 semapv:UnspecifiedMatching -OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:TAFA2 semapv:UnspecifiedMatching -OMIM:617496 FAM19A2 skos:exactMatch ncbigene:338811 semapv:UnspecifiedMatching -OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:21590 semapv:UnspecifiedMatching -OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:TAFA3 semapv:UnspecifiedMatching -OMIM:617497 FAM19A3 skos:exactMatch ncbigene:284467 semapv:UnspecifiedMatching -OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:21591 semapv:UnspecifiedMatching -OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:TAFA4 semapv:UnspecifiedMatching -OMIM:617498 FAM19A4 skos:exactMatch ncbigene:151647 semapv:UnspecifiedMatching -OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:21592 semapv:UnspecifiedMatching -OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:TAFA5 semapv:UnspecifiedMatching -OMIM:617499 FAM19A5 skos:exactMatch ncbigene:25817 semapv:UnspecifiedMatching -OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:37126 semapv:UnspecifiedMatching -OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:UCA1 semapv:UnspecifiedMatching -OMIM:617500 UCA1 skos:exactMatch ncbigene:652995 semapv:UnspecifiedMatching -OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:15904 semapv:UnspecifiedMatching -OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:KAT14 semapv:UnspecifiedMatching -OMIM:617501 KAT14 skos:exactMatch ncbigene:57325 semapv:UnspecifiedMatching -OMIM:617502 WDR41 skos:exactMatch UMLS:C1538082 semapv:UnspecifiedMatching -OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:25601 semapv:UnspecifiedMatching -OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:WDR41 semapv:UnspecifiedMatching -OMIM:617502 WDR41 skos:exactMatch ncbigene:55255 semapv:UnspecifiedMatching -OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:29134 semapv:UnspecifiedMatching -OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:DENND3 semapv:UnspecifiedMatching -OMIM:617503 DENND3 skos:exactMatch ncbigene:22898 semapv:UnspecifiedMatching -OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:20284 semapv:UnspecifiedMatching -OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:SIPA1L1 semapv:UnspecifiedMatching -OMIM:617504 SIPA1L1 skos:exactMatch ncbigene:26037 semapv:UnspecifiedMatching -OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:28371 semapv:UnspecifiedMatching -OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:TRAM1L1 semapv:UnspecifiedMatching -OMIM:617505 TRAM1L1 skos:exactMatch ncbigene:133022 semapv:UnspecifiedMatching -OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:28079 semapv:UnspecifiedMatching -OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:ZNF598 semapv:UnspecifiedMatching -OMIM:617508 ZNF598 skos:exactMatch ncbigene:90850 semapv:UnspecifiedMatching -OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:29071 semapv:UnspecifiedMatching -OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:VWA8 semapv:UnspecifiedMatching -OMIM:617509 VWA8 skos:exactMatch ncbigene:23078 semapv:UnspecifiedMatching -OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:28491 semapv:UnspecifiedMatching -OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:CATSPERE semapv:UnspecifiedMatching -OMIM:617510 CATSPERE skos:exactMatch ncbigene:257044 semapv:UnspecifiedMatching -OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:19231 semapv:UnspecifiedMatching -OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:CATSPERZ semapv:UnspecifiedMatching -OMIM:617511 CATSPERZ skos:exactMatch ncbigene:25858 semapv:UnspecifiedMatching -OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:13578 semapv:UnspecifiedMatching -OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:ZNF318 semapv:UnspecifiedMatching -OMIM:617512 ZNF318 skos:exactMatch ncbigene:24149 semapv:UnspecifiedMatching -OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:25590 semapv:UnspecifiedMatching -OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:OGDHL semapv:UnspecifiedMatching -OMIM:617513 OGDHL skos:exactMatch ncbigene:55753 semapv:UnspecifiedMatching -OMIM:617515 RHBDD1 skos:exactMatch UMLS:C1826822 semapv:UnspecifiedMatching -OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:23081 semapv:UnspecifiedMatching -OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:RHBDD1 semapv:UnspecifiedMatching -OMIM:617515 RHBDD1 skos:exactMatch ncbigene:84236 semapv:UnspecifiedMatching -OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:10439 semapv:UnspecifiedMatching -OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:RPS6KC1 semapv:UnspecifiedMatching -OMIM:617517 RPS6KC1 skos:exactMatch ncbigene:26750 semapv:UnspecifiedMatching -OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:25501 semapv:UnspecifiedMatching -OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:BSDC1 semapv:UnspecifiedMatching -OMIM:617518 BSDC1 skos:exactMatch ncbigene:55108 semapv:UnspecifiedMatching -OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:25231 semapv:UnspecifiedMatching -OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:YIPF1 semapv:UnspecifiedMatching -OMIM:617521 YIPF1 skos:exactMatch ncbigene:54432 semapv:UnspecifiedMatching -OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:28476 semapv:UnspecifiedMatching -OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:YIPF2 semapv:UnspecifiedMatching -OMIM:617522 YIPF2 skos:exactMatch ncbigene:78992 semapv:UnspecifiedMatching -OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch Orphanet:521426 semapv:UnspecifiedMatching -OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching -OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:22420 semapv:UnspecifiedMatching -OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:PSMG3 semapv:UnspecifiedMatching -OMIM:617528 PSMG3 skos:exactMatch ncbigene:84262 semapv:UnspecifiedMatching -OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:26150 semapv:UnspecifiedMatching -OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:FASTKD1 semapv:UnspecifiedMatching -OMIM:617529 FASTKD1 skos:exactMatch ncbigene:79675 semapv:UnspecifiedMatching -OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:28758 semapv:UnspecifiedMatching -OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:FASTKD3 semapv:UnspecifiedMatching -OMIM:617530 FASTKD3 skos:exactMatch ncbigene:79072 semapv:UnspecifiedMatching -OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:26182 semapv:UnspecifiedMatching -OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:COLGALT1 semapv:UnspecifiedMatching -OMIM:617531 COLGALT1 skos:exactMatch ncbigene:79709 semapv:UnspecifiedMatching -OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:16790 semapv:UnspecifiedMatching -OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:COLGALT2 semapv:UnspecifiedMatching -OMIM:617533 COLGALT2 skos:exactMatch ncbigene:23127 semapv:UnspecifiedMatching -OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:28145 semapv:UnspecifiedMatching -OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:YIPF4 semapv:UnspecifiedMatching -OMIM:617534 YIPF4 skos:exactMatch ncbigene:84272 semapv:UnspecifiedMatching -OMIM:617535 FAIM skos:exactMatch hgnc.symbol:18703 semapv:UnspecifiedMatching -OMIM:617535 FAIM skos:exactMatch hgnc.symbol:FAIM semapv:UnspecifiedMatching -OMIM:617535 FAIM skos:exactMatch ncbigene:55179 semapv:UnspecifiedMatching -OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:26203 semapv:UnspecifiedMatching -OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:BAIAP2L2 semapv:UnspecifiedMatching -OMIM:617536 BAIAP2L2 skos:exactMatch ncbigene:80115 semapv:UnspecifiedMatching -OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:25789 semapv:UnspecifiedMatching -OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:EFL1 semapv:UnspecifiedMatching -OMIM:617538 EFL1 skos:exactMatch ncbigene:79631 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch UMLS:C1824741 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:29675 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:CLCC1 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch ncbigene:23155 semapv:UnspecifiedMatching -OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:25527 semapv:UnspecifiedMatching -OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:ANKZF1 semapv:UnspecifiedMatching -OMIM:617541 ANKZF1 skos:exactMatch ncbigene:55139 semapv:UnspecifiedMatching -OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:10066 semapv:UnspecifiedMatching -OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:PCGF3 semapv:UnspecifiedMatching -OMIM:617543 PCGF3 skos:exactMatch ncbigene:10336 semapv:UnspecifiedMatching -OMIM:617544 LINC00672 skos:exactMatch hgnc.symbol:LASP1NB semapv:UnspecifiedMatching -OMIM:617544 LINC00672 skos:exactMatch ncbigene:100505576 semapv:UnspecifiedMatching -OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:26368 semapv:UnspecifiedMatching -OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:MCMDC2 semapv:UnspecifiedMatching -OMIM:617545 MCMDC2 skos:exactMatch ncbigene:157777 semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch UMLS:C2681564 semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch hgnc.symbol:33783 semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch hgnc.symbol:HELT semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch ncbigene:391723 semapv:UnspecifiedMatching -OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:15939 semapv:UnspecifiedMatching -OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:WFDC2 semapv:UnspecifiedMatching -OMIM:617548 WFDC2 skos:exactMatch ncbigene:10406 semapv:UnspecifiedMatching -OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:16104 semapv:UnspecifiedMatching -OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:TP53INP2 semapv:UnspecifiedMatching -OMIM:617549 TP53INP2 skos:exactMatch ncbigene:58476 semapv:UnspecifiedMatching -OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:21108 semapv:UnspecifiedMatching -OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:PSMG4 semapv:UnspecifiedMatching -OMIM:617550 PSMG4 skos:exactMatch ncbigene:389362 semapv:UnspecifiedMatching -OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:24272 semapv:UnspecifiedMatching -OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:SIDT2 semapv:UnspecifiedMatching -OMIM:617551 SIDT2 skos:exactMatch ncbigene:51092 semapv:UnspecifiedMatching -OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:24490 semapv:UnspecifiedMatching -OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:ARHGEF26 semapv:UnspecifiedMatching -OMIM:617552 ARHGEF26 skos:exactMatch ncbigene:26084 semapv:UnspecifiedMatching -OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:13572 semapv:UnspecifiedMatching -OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:FCGBP semapv:UnspecifiedMatching -OMIM:617553 FCGBP skos:exactMatch ncbigene:8857 semapv:UnspecifiedMatching -OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:16027 semapv:UnspecifiedMatching -OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:FGD3 semapv:UnspecifiedMatching -OMIM:617554 FGD3 skos:exactMatch ncbigene:89846 semapv:UnspecifiedMatching -OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:25463 semapv:UnspecifiedMatching -OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:FCHSD1 semapv:UnspecifiedMatching -OMIM:617555 FCHSD1 skos:exactMatch ncbigene:89848 semapv:UnspecifiedMatching -OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:29114 semapv:UnspecifiedMatching -OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:FCHSD2 semapv:UnspecifiedMatching -OMIM:617556 FCHSD2 skos:exactMatch ncbigene:9873 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch UMLS:C1538396 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch UMLS:C4539818 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:26684 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:CFAP43 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch ncbigene:80217 semapv:UnspecifiedMatching -OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:25631 semapv:UnspecifiedMatching -OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:CFAP44 semapv:UnspecifiedMatching -OMIM:617559 CFAP44 skos:exactMatch ncbigene:55779 semapv:UnspecifiedMatching -OMIM:617561 cohen-gibson syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching -OMIM:617561 cohen-gibson syndrome skos:exactMatch UMLS:C4479654 semapv:UnspecifiedMatching -OMIM:617565 perrault syndrome 6 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching -OMIM:617565 perrault syndrome 6 skos:exactMatch UMLS:C4479656 semapv:UnspecifiedMatching -OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:25392 semapv:UnspecifiedMatching -OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:ZNF568 semapv:UnspecifiedMatching -OMIM:617566 ZNF568 skos:exactMatch ncbigene:374900 semapv:UnspecifiedMatching -OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:23382 semapv:UnspecifiedMatching -OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:TPD52L3 semapv:UnspecifiedMatching -OMIM:617567 TPD52L3 skos:exactMatch ncbigene:89882 semapv:UnspecifiedMatching -OMIM:617568 USF3 skos:exactMatch hgnc.symbol:30494 semapv:UnspecifiedMatching -OMIM:617568 USF3 skos:exactMatch hgnc.symbol:USF3 semapv:UnspecifiedMatching -OMIM:617568 USF3 skos:exactMatch ncbigene:205717 semapv:UnspecifiedMatching -OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:17273 semapv:UnspecifiedMatching -OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:KIF15 semapv:UnspecifiedMatching -OMIM:617569 KIF15 skos:exactMatch ncbigene:56992 semapv:UnspecifiedMatching -OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:26551 semapv:UnspecifiedMatching -OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:DZIP1L semapv:UnspecifiedMatching -OMIM:617570 DZIP1L skos:exactMatch ncbigene:199221 semapv:UnspecifiedMatching -OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:31966 semapv:UnspecifiedMatching -OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:CLEC12B semapv:UnspecifiedMatching -OMIM:617573 CLEC12B skos:exactMatch ncbigene:387837 semapv:UnspecifiedMatching -OMIM:617578 FERD3L skos:exactMatch UMLS:C1424474 semapv:UnspecifiedMatching -OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:16660 semapv:UnspecifiedMatching -OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:FERD3L semapv:UnspecifiedMatching -OMIM:617578 FERD3L skos:exactMatch ncbigene:222894 semapv:UnspecifiedMatching -OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:2033 semapv:UnspecifiedMatching -OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:CLDN10 semapv:UnspecifiedMatching -OMIM:617579 CLDN10 skos:exactMatch ncbigene:9071 semapv:UnspecifiedMatching -OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:30725 semapv:UnspecifiedMatching -OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:TSPAN16 semapv:UnspecifiedMatching -OMIM:617580 TSPAN16 skos:exactMatch ncbigene:26526 semapv:UnspecifiedMatching -OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:1266 semapv:UnspecifiedMatching -OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:C2CD2 semapv:UnspecifiedMatching -OMIM:617581 C2CD2 skos:exactMatch ncbigene:25966 semapv:UnspecifiedMatching -OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:29000 semapv:UnspecifiedMatching -OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:C2CD2L semapv:UnspecifiedMatching -OMIM:617582 C2CD2L skos:exactMatch ncbigene:9854 semapv:UnspecifiedMatching -OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:16132 semapv:UnspecifiedMatching -OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:SRXN1 semapv:UnspecifiedMatching -OMIM:617583 SRXN1 skos:exactMatch ncbigene:140809 semapv:UnspecifiedMatching -OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:16460 semapv:UnspecifiedMatching -OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:FARP2 semapv:UnspecifiedMatching -OMIM:617586 FARP2 skos:exactMatch ncbigene:9855 semapv:UnspecifiedMatching -OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:11264 semapv:UnspecifiedMatching -OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:SPRR2D semapv:UnspecifiedMatching -OMIM:617587 SPRR2D skos:exactMatch ncbigene:6703 semapv:UnspecifiedMatching -OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:11265 semapv:UnspecifiedMatching -OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:SPRR2E semapv:UnspecifiedMatching -OMIM:617588 SPRR2E skos:exactMatch ncbigene:6704 semapv:UnspecifiedMatching -OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:11266 semapv:UnspecifiedMatching -OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:SPRR2F semapv:UnspecifiedMatching -OMIM:617589 SPRR2F skos:exactMatch ncbigene:6705 semapv:UnspecifiedMatching -OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:11267 semapv:UnspecifiedMatching -OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:SPRR2G semapv:UnspecifiedMatching -OMIM:617590 SPRR2G skos:exactMatch ncbigene:6706 semapv:UnspecifiedMatching -OMIM:617591 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch UMLS:C4747850 semapv:UnspecifiedMatching -OMIM:617594 JHY skos:exactMatch UMLS:C1824329 semapv:UnspecifiedMatching -OMIM:617594 JHY skos:exactMatch hgnc.symbol:26288 semapv:UnspecifiedMatching -OMIM:617594 JHY skos:exactMatch hgnc.symbol:JHY semapv:UnspecifiedMatching -OMIM:617594 JHY skos:exactMatch ncbigene:79864 semapv:UnspecifiedMatching -OMIM:617595 birk-landau-perez syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching -OMIM:617595 birk-landau-perez syndrome skos:exactMatch UMLS:C4539828 semapv:UnspecifiedMatching -OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:25991 semapv:UnspecifiedMatching -OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:RETSAT semapv:UnspecifiedMatching -OMIM:617597 RETSAT skos:exactMatch ncbigene:54884 semapv:UnspecifiedMatching -OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching -OMIM:617602 congenital heart defects and skeletal malformations syndrome skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching -OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:21539 semapv:UnspecifiedMatching -OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:RBM24 semapv:UnspecifiedMatching -OMIM:617603 RBM24 skos:exactMatch ncbigene:221662 semapv:UnspecifiedMatching -OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:17574 semapv:UnspecifiedMatching -OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:ALPK3 semapv:UnspecifiedMatching -OMIM:617608 ALPK3 skos:exactMatch ncbigene:57538 semapv:UnspecifiedMatching -OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:25483 semapv:UnspecifiedMatching -OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:PIMREG semapv:UnspecifiedMatching -OMIM:617611 PIMREG skos:exactMatch ncbigene:54478 semapv:UnspecifiedMatching -OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:20730 semapv:UnspecifiedMatching -OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:ARMC9 semapv:UnspecifiedMatching -OMIM:617612 ARMC9 skos:exactMatch ncbigene:80210 semapv:UnspecifiedMatching -OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching -OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:26933 semapv:UnspecifiedMatching -OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:SPOUT1 semapv:UnspecifiedMatching -OMIM:617614 SPOUT1 skos:exactMatch ncbigene:51490 semapv:UnspecifiedMatching -OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:1164 semapv:UnspecifiedMatching -OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:TMEM258 semapv:UnspecifiedMatching -OMIM:617615 TMEM258 skos:exactMatch ncbigene:746 semapv:UnspecifiedMatching -OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:42394 semapv:UnspecifiedMatching -OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:SPRY4-IT1 semapv:UnspecifiedMatching -OMIM:617617 SPRY4IT1 skos:exactMatch ncbigene:100642175 semapv:UnspecifiedMatching -OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:19959 semapv:UnspecifiedMatching -OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:TOGARAM1 semapv:UnspecifiedMatching -OMIM:617618 TOGARAM1 skos:exactMatch ncbigene:23116 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch UMLS:C1826310 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540596 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540597 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:29678 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:MSTO1 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch ncbigene:55154 semapv:UnspecifiedMatching -OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:14965 semapv:UnspecifiedMatching -OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:LRRC3 semapv:UnspecifiedMatching -OMIM:617620 LRRC3 skos:exactMatch ncbigene:81543 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch UMLS:C1422075 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:13579 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:PAXBP1 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch ncbigene:94104 semapv:UnspecifiedMatching -OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:16408 semapv:UnspecifiedMatching -OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:SPDYE1 semapv:UnspecifiedMatching -OMIM:617623 SPDYE1 skos:exactMatch ncbigene:285955 semapv:UnspecifiedMatching -OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:33841 semapv:UnspecifiedMatching -OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:SPDYE2 semapv:UnspecifiedMatching -OMIM:617624 SPDYE2 skos:exactMatch ncbigene:441273 semapv:UnspecifiedMatching -OMIM:617625 SPDYE3 skos:exactMatch hgnc.symbol:35462 semapv:UnspecifiedMatching -OMIM:617625 SPDYE3 skos:exactMatch hgnc.symbol:SPDYE3 semapv:UnspecifiedMatching -OMIM:617625 SPDYE3 skos:exactMatch ncbigene:441272 semapv:UnspecifiedMatching -OMIM:617627 SPAAR skos:exactMatch hgnc.symbol:27244 semapv:UnspecifiedMatching -OMIM:617627 SPAAR skos:exactMatch hgnc.symbol:SPAAR semapv:UnspecifiedMatching -OMIM:617627 SPAAR skos:exactMatch ncbigene:158376 semapv:UnspecifiedMatching -OMIM:617628 SPDYE4 skos:exactMatch hgnc.symbol:35463 semapv:UnspecifiedMatching -OMIM:617628 SPDYE4 skos:exactMatch hgnc.symbol:SPDYE4 semapv:UnspecifiedMatching -OMIM:617628 SPDYE4 skos:exactMatch ncbigene:388333 semapv:UnspecifiedMatching -OMIM:617630 GPR37L1 skos:exactMatch hgnc.symbol:14923 semapv:UnspecifiedMatching -OMIM:617630 GPR37L1 skos:exactMatch hgnc.symbol:GPR37L1 semapv:UnspecifiedMatching -OMIM:617630 GPR37L1 skos:exactMatch ncbigene:9283 semapv:UnspecifiedMatching -OMIM:617631 IQCE skos:exactMatch UMLS:C1537413 semapv:UnspecifiedMatching -OMIM:617631 IQCE skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching -OMIM:617631 IQCE skos:exactMatch hgnc.symbol:29171 semapv:UnspecifiedMatching -OMIM:617631 IQCE skos:exactMatch hgnc.symbol:IQCE semapv:UnspecifiedMatching -OMIM:617631 IQCE skos:exactMatch ncbigene:23288 semapv:UnspecifiedMatching -OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:29379 semapv:UnspecifiedMatching -OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:EFCAB7 semapv:UnspecifiedMatching -OMIM:617632 EFCAB7 skos:exactMatch ncbigene:84455 semapv:UnspecifiedMatching -OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:44662 semapv:UnspecifiedMatching -OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:CCER2 semapv:UnspecifiedMatching -OMIM:617634 CCER2 skos:exactMatch ncbigene:643669 semapv:UnspecifiedMatching -OMIM:617636 CMKLR2AS skos:exactMatch hgnc.symbol:48602 semapv:UnspecifiedMatching -OMIM:617636 CMKLR2AS skos:exactMatch hgnc.symbol:CMKLR2-AS semapv:UnspecifiedMatching -OMIM:617636 CMKLR2AS skos:exactMatch ncbigene:101669764 semapv:UnspecifiedMatching -OMIM:617640 ST7L skos:exactMatch hgnc.symbol:18441 semapv:UnspecifiedMatching -OMIM:617640 ST7L skos:exactMatch hgnc.symbol:ST7L semapv:UnspecifiedMatching -OMIM:617640 ST7L skos:exactMatch ncbigene:54879 semapv:UnspecifiedMatching -OMIM:617642 polydactyly, postaxial, iia a7 skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching -OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:23761 semapv:UnspecifiedMatching -OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:KBTBD4 semapv:UnspecifiedMatching -OMIM:617645 KBTBD4 skos:exactMatch ncbigene:55709 semapv:UnspecifiedMatching -OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:29279 semapv:UnspecifiedMatching -OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:BAHCC1 semapv:UnspecifiedMatching -OMIM:617646 BAHCC1 skos:exactMatch ncbigene:57597 semapv:UnspecifiedMatching -OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:49211 semapv:UnspecifiedMatching -OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:PCAT18 semapv:UnspecifiedMatching -OMIM:617647 PCAT18 skos:exactMatch ncbigene:728606 semapv:UnspecifiedMatching -OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:18041 semapv:UnspecifiedMatching -OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:BMP2K semapv:UnspecifiedMatching -OMIM:617648 BMP2K skos:exactMatch ncbigene:55589 semapv:UnspecifiedMatching -OMIM:617649 UBE2O skos:exactMatch UMLS:C1823570 semapv:UnspecifiedMatching -OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:29554 semapv:UnspecifiedMatching -OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:UBE2O semapv:UnspecifiedMatching -OMIM:617649 UBE2O skos:exactMatch ncbigene:63893 semapv:UnspecifiedMatching -OMIM:617650 PACERR skos:exactMatch hgnc.symbol:50552 semapv:UnspecifiedMatching -OMIM:617650 PACERR skos:exactMatch hgnc.symbol:PACERR semapv:UnspecifiedMatching -OMIM:617650 PACERR skos:exactMatch ncbigene:103752588 semapv:UnspecifiedMatching -OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:23825 semapv:UnspecifiedMatching -OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:MOB3B semapv:UnspecifiedMatching -OMIM:617652 MOB3B skos:exactMatch ncbigene:79817 semapv:UnspecifiedMatching -OMIM:617653 EQTN skos:exactMatch hgnc.symbol:1359 semapv:UnspecifiedMatching -OMIM:617653 EQTN skos:exactMatch hgnc.symbol:EQTN semapv:UnspecifiedMatching -OMIM:617653 EQTN skos:exactMatch ncbigene:54586 semapv:UnspecifiedMatching -OMIM:617655 PCNX1 skos:exactMatch UMLS:C1426376 semapv:UnspecifiedMatching -OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:19740 semapv:UnspecifiedMatching -OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:PCNX1 semapv:UnspecifiedMatching -OMIM:617655 PCNX1 skos:exactMatch ncbigene:22990 semapv:UnspecifiedMatching -OMIM:617656 PCNX2 skos:exactMatch UMLS:C1418381 semapv:UnspecifiedMatching -OMIM:617656 PCNX2 skos:exactMatch hgnc.symbol:8736 semapv:UnspecifiedMatching -OMIM:617656 PCNX2 skos:exactMatch hgnc.symbol:PCNX2 semapv:UnspecifiedMatching -OMIM:617656 PCNX2 skos:exactMatch ncbigene:80003 semapv:UnspecifiedMatching -OMIM:617657 PCNX3 skos:exactMatch UMLS:C1425765 semapv:UnspecifiedMatching -OMIM:617657 PCNX3 skos:exactMatch hgnc.symbol:18760 semapv:UnspecifiedMatching -OMIM:617657 PCNX3 skos:exactMatch hgnc.symbol:PCNX3 semapv:UnspecifiedMatching -OMIM:617657 PCNX3 skos:exactMatch ncbigene:399909 semapv:UnspecifiedMatching -OMIM:617658 SQOR skos:exactMatch hgnc.symbol:20390 semapv:UnspecifiedMatching -OMIM:617658 SQOR skos:exactMatch hgnc.symbol:SQOR semapv:UnspecifiedMatching -OMIM:617658 SQOR skos:exactMatch ncbigene:58472 semapv:UnspecifiedMatching -OMIM:617659 LIPT2 skos:exactMatch hgnc.symbol:37216 semapv:UnspecifiedMatching -OMIM:617659 LIPT2 skos:exactMatch hgnc.symbol:LIPT2 semapv:UnspecifiedMatching -OMIM:617659 LIPT2 skos:exactMatch ncbigene:387787 semapv:UnspecifiedMatching -OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching -OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch UMLS:C4540004 semapv:UnspecifiedMatching -OMIM:617665 developmental and epileptic encephalopathy 56 skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching -OMIM:617667 fraser syndrome 3 skos:exactMatch Orphanet:2052 semapv:UnspecifiedMatching -OMIM:617667 fraser syndrome 3 skos:exactMatch UMLS:C4540040 semapv:UnspecifiedMatching -OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch UMLS:C4540052 semapv:UnspecifiedMatching -OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:28569 semapv:UnspecifiedMatching -OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:MEIOB semapv:UnspecifiedMatching -OMIM:617670 MEIOB skos:exactMatch ncbigene:254528 semapv:UnspecifiedMatching -OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:30705 semapv:UnspecifiedMatching -OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:SPATA22 semapv:UnspecifiedMatching -OMIM:617673 SPATA22 skos:exactMatch ncbigene:84690 semapv:UnspecifiedMatching -OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:10759 semapv:UnspecifiedMatching -OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:SERP1 semapv:UnspecifiedMatching -OMIM:617674 SERP1 skos:exactMatch ncbigene:27230 semapv:UnspecifiedMatching -OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch Orphanet:502423 semapv:UnspecifiedMatching -OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch UMLS:C4540096 semapv:UnspecifiedMatching -OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:9560 semapv:UnspecifiedMatching -OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:PSMD3 semapv:UnspecifiedMatching -OMIM:617676 PSMD3 skos:exactMatch ncbigene:5709 semapv:UnspecifiedMatching -OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:45089 semapv:UnspecifiedMatching -OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:PCAT2 semapv:UnspecifiedMatching -OMIM:617678 PCAT2 skos:exactMatch ncbigene:103164619 semapv:UnspecifiedMatching -OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:25056 semapv:UnspecifiedMatching -OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:KLHL20 semapv:UnspecifiedMatching -OMIM:617679 KLHL20 skos:exactMatch ncbigene:27252 semapv:UnspecifiedMatching -OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:25016 semapv:UnspecifiedMatching -OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:SSU72 semapv:UnspecifiedMatching -OMIM:617680 SSU72 skos:exactMatch ncbigene:29101 semapv:UnspecifiedMatching -OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:26810 semapv:UnspecifiedMatching -OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:EGFLAM semapv:UnspecifiedMatching -OMIM:617683 EGFLAM skos:exactMatch ncbigene:133584 semapv:UnspecifiedMatching -OMIM:617684 LYAR skos:exactMatch hgnc.symbol:26021 semapv:UnspecifiedMatching -OMIM:617684 LYAR skos:exactMatch hgnc.symbol:LYAR semapv:UnspecifiedMatching -OMIM:617684 LYAR skos:exactMatch ncbigene:55646 semapv:UnspecifiedMatching -OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:15902 semapv:UnspecifiedMatching -OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:CDH26 semapv:UnspecifiedMatching -OMIM:617685 CDH26 skos:exactMatch ncbigene:60437 semapv:UnspecifiedMatching -OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:25622 semapv:UnspecifiedMatching -OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:TBC1D23 semapv:UnspecifiedMatching -OMIM:617687 TBC1D23 skos:exactMatch ncbigene:55773 semapv:UnspecifiedMatching -OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:24536 semapv:UnspecifiedMatching -OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:PARM1 semapv:UnspecifiedMatching -OMIM:617688 PARM1 skos:exactMatch ncbigene:25849 semapv:UnspecifiedMatching -OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:30359 semapv:UnspecifiedMatching -OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:CSDC2 semapv:UnspecifiedMatching -OMIM:617689 CSDC2 skos:exactMatch ncbigene:27254 semapv:UnspecifiedMatching -OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:13999 semapv:UnspecifiedMatching -OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:PRDM15 semapv:UnspecifiedMatching -OMIM:617692 PRDM15 skos:exactMatch ncbigene:63977 semapv:UnspecifiedMatching -OMIM:617693 VIT skos:exactMatch hgnc.symbol:12697 semapv:UnspecifiedMatching -OMIM:617693 VIT skos:exactMatch hgnc.symbol:VIT semapv:UnspecifiedMatching -OMIM:617693 VIT skos:exactMatch ncbigene:5212 semapv:UnspecifiedMatching -OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:51144 semapv:UnspecifiedMatching -OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:LINC01488 semapv:UnspecifiedMatching -OMIM:617696 LINC01488 skos:exactMatch ncbigene:101928292 semapv:UnspecifiedMatching -OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:54266 semapv:UnspecifiedMatching -OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:LINC02747 semapv:UnspecifiedMatching -OMIM:617697 LINC02747 skos:exactMatch ncbigene:105379407 semapv:UnspecifiedMatching -OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch Orphanet:505216 semapv:UnspecifiedMatching -OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching -OMIM:617699 GID4 skos:exactMatch UMLS:C3539395 semapv:UnspecifiedMatching -OMIM:617699 GID4 skos:exactMatch hgnc.symbol:28453 semapv:UnspecifiedMatching -OMIM:617699 GID4 skos:exactMatch hgnc.symbol:GID4 semapv:UnspecifiedMatching -OMIM:617699 GID4 skos:exactMatch ncbigene:79018 semapv:UnspecifiedMatching -OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:12480 semapv:UnspecifiedMatching -OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:UBE2F semapv:UnspecifiedMatching -OMIM:617700 UBE2F skos:exactMatch ncbigene:140739 semapv:UnspecifiedMatching -OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:45129 semapv:UnspecifiedMatching -OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:CASC8 semapv:UnspecifiedMatching -OMIM:617701 CASC8 skos:exactMatch ncbigene:727677 semapv:UnspecifiedMatching -OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:49836 semapv:UnspecifiedMatching -OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:CASC21 semapv:UnspecifiedMatching -OMIM:617702 CASC21 skos:exactMatch ncbigene:103021164 semapv:UnspecifiedMatching -OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:49476 semapv:UnspecifiedMatching -OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:CASC19 semapv:UnspecifiedMatching -OMIM:617703 CASC19 skos:exactMatch ncbigene:103021165 semapv:UnspecifiedMatching -OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:48939 semapv:UnspecifiedMatching -OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:CASC11 semapv:UnspecifiedMatching -OMIM:617704 CASC11 skos:exactMatch ncbigene:100270680 semapv:UnspecifiedMatching -OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:45128 semapv:UnspecifiedMatching -OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:CCAT1 semapv:UnspecifiedMatching -OMIM:617705 CCAT1 skos:exactMatch ncbigene:100507056 semapv:UnspecifiedMatching -OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:16827 semapv:UnspecifiedMatching -OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:CDC123 semapv:UnspecifiedMatching -OMIM:617708 CDC123 skos:exactMatch ncbigene:8872 semapv:UnspecifiedMatching -OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:33742 semapv:UnspecifiedMatching -OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:CAVIN4 semapv:UnspecifiedMatching -OMIM:617714 CAVIN4 skos:exactMatch ncbigene:347273 semapv:UnspecifiedMatching -OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:24331 semapv:UnspecifiedMatching -OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:MALRD1 semapv:UnspecifiedMatching -OMIM:617715 MALRD1 skos:exactMatch ncbigene:340895 semapv:UnspecifiedMatching -OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:29096 semapv:UnspecifiedMatching -OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:ARHGAP44 semapv:UnspecifiedMatching -OMIM:617716 ARHGAP44 skos:exactMatch ncbigene:9912 semapv:UnspecifiedMatching -OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching -OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:33732 semapv:UnspecifiedMatching -OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:PPP1R42 semapv:UnspecifiedMatching -OMIM:617720 PPP1R42 skos:exactMatch ncbigene:286187 semapv:UnspecifiedMatching -OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching -OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:26041 semapv:UnspecifiedMatching -OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:TXNL4B semapv:UnspecifiedMatching -OMIM:617722 TXNL4B skos:exactMatch ncbigene:54957 semapv:UnspecifiedMatching -OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:29100 semapv:UnspecifiedMatching -OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:RRP12 semapv:UnspecifiedMatching -OMIM:617723 RRP12 skos:exactMatch ncbigene:23223 semapv:UnspecifiedMatching -OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:29095 semapv:UnspecifiedMatching -OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:TSC22D2 semapv:UnspecifiedMatching -OMIM:617724 TSC22D2 skos:exactMatch ncbigene:9819 semapv:UnspecifiedMatching -OMIM:617725 FUOM skos:exactMatch hgnc.symbol:24733 semapv:UnspecifiedMatching -OMIM:617725 FUOM skos:exactMatch hgnc.symbol:FUOM semapv:UnspecifiedMatching -OMIM:617725 FUOM skos:exactMatch ncbigene:282969 semapv:UnspecifiedMatching -OMIM:617726 CARD19 skos:exactMatch hgnc.symbol:28148 semapv:UnspecifiedMatching -OMIM:617726 CARD19 skos:exactMatch hgnc.symbol:CARD19 semapv:UnspecifiedMatching -OMIM:617726 CARD19 skos:exactMatch ncbigene:84270 semapv:UnspecifiedMatching -OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:30797 semapv:UnspecifiedMatching -OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:TM9SF4 semapv:UnspecifiedMatching -OMIM:617727 TM9SF4 skos:exactMatch ncbigene:9777 semapv:UnspecifiedMatching -OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:29366 semapv:UnspecifiedMatching -OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:CEP295 semapv:UnspecifiedMatching -OMIM:617728 CEP295 skos:exactMatch ncbigene:85459 semapv:UnspecifiedMatching -OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:29009 semapv:UnspecifiedMatching -OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:ZNF518A semapv:UnspecifiedMatching -OMIM:617733 ZNF518A skos:exactMatch ncbigene:9849 semapv:UnspecifiedMatching -OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:29365 semapv:UnspecifiedMatching -OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:ZNF518B semapv:UnspecifiedMatching -OMIM:617734 ZNF518B skos:exactMatch ncbigene:85460 semapv:UnspecifiedMatching -OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:26563 semapv:UnspecifiedMatching -OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:C10orf90 semapv:UnspecifiedMatching -OMIM:617735 C10ORF90 skos:exactMatch ncbigene:118611 semapv:UnspecifiedMatching -OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:24001 semapv:UnspecifiedMatching -OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:MORN4 semapv:UnspecifiedMatching -OMIM:617736 MORN4 skos:exactMatch ncbigene:118812 semapv:UnspecifiedMatching -OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:21416 semapv:UnspecifiedMatching -OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:SMPDL3B semapv:UnspecifiedMatching -OMIM:617737 SMPDL3B skos:exactMatch ncbigene:27293 semapv:UnspecifiedMatching -OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:25340 semapv:UnspecifiedMatching -OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:KBTBD6 semapv:UnspecifiedMatching -OMIM:617738 KBTBD6 skos:exactMatch ncbigene:89890 semapv:UnspecifiedMatching -OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:25266 semapv:UnspecifiedMatching -OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:KBTBD7 semapv:UnspecifiedMatching -OMIM:617739 KBTBD7 skos:exactMatch ncbigene:84078 semapv:UnspecifiedMatching -OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:27111 semapv:UnspecifiedMatching -OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:VSIG10L semapv:UnspecifiedMatching -OMIM:617740 VSIG10L skos:exactMatch ncbigene:147645 semapv:UnspecifiedMatching -OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:19667 semapv:UnspecifiedMatching -OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:WDR20 semapv:UnspecifiedMatching -OMIM:617741 WDR20 skos:exactMatch ncbigene:91833 semapv:UnspecifiedMatching -OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:25473 semapv:UnspecifiedMatching -OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:KANSL3 semapv:UnspecifiedMatching -OMIM:617742 KANSL3 skos:exactMatch ncbigene:55683 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch UMLS:C3470954 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch UMLS:C4694043 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:28299 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:MFSD12 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch ncbigene:126321 semapv:UnspecifiedMatching -OMIM:617746 sweeney-cox syndrome skos:exactMatch UMLS:C4540299 semapv:UnspecifiedMatching -OMIM:617747 SP140L skos:exactMatch hgnc.symbol:25105 semapv:UnspecifiedMatching -OMIM:617747 SP140L skos:exactMatch hgnc.symbol:SP140L semapv:UnspecifiedMatching -OMIM:617747 SP140L skos:exactMatch ncbigene:93349 semapv:UnspecifiedMatching -OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:20614 semapv:UnspecifiedMatching -OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:TDRD5 semapv:UnspecifiedMatching -OMIM:617748 TDRD5 skos:exactMatch ncbigene:163589 semapv:UnspecifiedMatching -OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:29191 semapv:UnspecifiedMatching -OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:LIMCH1 semapv:UnspecifiedMatching -OMIM:617750 LIMCH1 skos:exactMatch ncbigene:22998 semapv:UnspecifiedMatching -OMIM:617752 clark-baraitser syndrome skos:exactMatch Orphanet:600731 semapv:UnspecifiedMatching -OMIM:617752 clark-baraitser syndrome skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching -OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:18656 semapv:UnspecifiedMatching -OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:RIOK1 semapv:UnspecifiedMatching -OMIM:617753 RIOK1 skos:exactMatch ncbigene:83732 semapv:UnspecifiedMatching -OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:18999 semapv:UnspecifiedMatching -OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:RIOK2 semapv:UnspecifiedMatching -OMIM:617754 RIOK2 skos:exactMatch ncbigene:55781 semapv:UnspecifiedMatching -OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:26049 semapv:UnspecifiedMatching -OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:ZNF692 semapv:UnspecifiedMatching -OMIM:617758 ZNF692 skos:exactMatch ncbigene:55657 semapv:UnspecifiedMatching -OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:28437 semapv:UnspecifiedMatching -OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:RPUSD3 semapv:UnspecifiedMatching -OMIM:617759 RPUSD3 skos:exactMatch ncbigene:285367 semapv:UnspecifiedMatching -OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:30960 semapv:UnspecifiedMatching -OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:ZER1 semapv:UnspecifiedMatching -OMIM:617764 ZER1 skos:exactMatch ncbigene:10444 semapv:UnspecifiedMatching -OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:29856 semapv:UnspecifiedMatching -OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:PSME3IP1 semapv:UnspecifiedMatching -OMIM:617766 FAM192A skos:exactMatch ncbigene:80011 semapv:UnspecifiedMatching -OMIM:617767 joubert syndrome 33 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching -OMIM:617771 developmental and epileptic encephalopathy 57 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching -OMIM:617772 deafness, autosomal dominant 34, with or without inflammation skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching -OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:20598 semapv:UnspecifiedMatching -OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:LONP2 semapv:UnspecifiedMatching -OMIM:617774 LONP2 skos:exactMatch ncbigene:83752 semapv:UnspecifiedMatching -OMIM:617775 C10ORF99 skos:exactMatch hgnc.symbol:GPR15LG semapv:UnspecifiedMatching -OMIM:617775 C10ORF99 skos:exactMatch ncbigene:387695 semapv:UnspecifiedMatching -OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:15723 semapv:UnspecifiedMatching -OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:BAGE2 semapv:UnspecifiedMatching -OMIM:617776 BAGE2 skos:exactMatch ncbigene:85319 semapv:UnspecifiedMatching -OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:15728 semapv:UnspecifiedMatching -OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:BAGE3 semapv:UnspecifiedMatching -OMIM:617777 BAGE3 skos:exactMatch ncbigene:85318 semapv:UnspecifiedMatching -OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:20652 semapv:UnspecifiedMatching -OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:TXNDC15 semapv:UnspecifiedMatching -OMIM:617778 TXNDC15 skos:exactMatch ncbigene:79770 semapv:UnspecifiedMatching -OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:28618 semapv:UnspecifiedMatching -OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:TMEM256 semapv:UnspecifiedMatching -OMIM:617779 TMEM256 skos:exactMatch ncbigene:254863 semapv:UnspecifiedMatching -OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch UMLS:C4540434 semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch UMLS:C1429058 semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch UMLS:C4540497 semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:31042 semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:GREB1L semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch ncbigene:80000 semapv:UnspecifiedMatching -OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:19262 semapv:UnspecifiedMatching -OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:PAPLN semapv:UnspecifiedMatching -OMIM:617785 PAPLN skos:exactMatch ncbigene:89932 semapv:UnspecifiedMatching -OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:1623 semapv:UnspecifiedMatching -OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:CCT8 semapv:UnspecifiedMatching -OMIM:617786 CCT8 skos:exactMatch ncbigene:10694 semapv:UnspecifiedMatching -OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:31454 semapv:UnspecifiedMatching -OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:TXNDC8 semapv:UnspecifiedMatching -OMIM:617789 TXNDC8 skos:exactMatch ncbigene:255220 semapv:UnspecifiedMatching -OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:16470 semapv:UnspecifiedMatching -OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:TXNDC2 semapv:UnspecifiedMatching -OMIM:617790 TXNDC2 skos:exactMatch ncbigene:84203 semapv:UnspecifiedMatching -OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:29373 semapv:UnspecifiedMatching -OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:LRRCC1 semapv:UnspecifiedMatching -OMIM:617791 LRRCC1 skos:exactMatch ncbigene:85444 semapv:UnspecifiedMatching -OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:28030 semapv:UnspecifiedMatching -OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:TXNDC11 semapv:UnspecifiedMatching -OMIM:617792 TXNDC11 skos:exactMatch ncbigene:51061 semapv:UnspecifiedMatching -OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:27351 semapv:UnspecifiedMatching -OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:EEF1AKMT1 semapv:UnspecifiedMatching -OMIM:617793 EEF1AKMT1 skos:exactMatch ncbigene:221143 semapv:UnspecifiedMatching -OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:33787 semapv:UnspecifiedMatching -OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:EEF1AKMT2 semapv:UnspecifiedMatching -OMIM:617794 EEF1AKMT2 skos:exactMatch ncbigene:399818 semapv:UnspecifiedMatching -OMIM:617795 EPOP skos:exactMatch hgnc.symbol:34493 semapv:UnspecifiedMatching -OMIM:617795 EPOP skos:exactMatch hgnc.symbol:EPOP semapv:UnspecifiedMatching -OMIM:617795 EPOP skos:exactMatch ncbigene:100170841 semapv:UnspecifiedMatching -OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching -OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch UMLS:C4540478 semapv:UnspecifiedMatching -OMIM:617797 SRMS skos:exactMatch hgnc.symbol:11298 semapv:UnspecifiedMatching -OMIM:617797 SRMS skos:exactMatch hgnc.symbol:SRMS semapv:UnspecifiedMatching -OMIM:617797 SRMS skos:exactMatch ncbigene:6725 semapv:UnspecifiedMatching -OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:20040 semapv:UnspecifiedMatching -OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:CAP1 semapv:UnspecifiedMatching -OMIM:617801 CAP1 skos:exactMatch ncbigene:10487 semapv:UnspecifiedMatching -OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:28550 semapv:UnspecifiedMatching -OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:TMEM26 semapv:UnspecifiedMatching -OMIM:617803 TMEM26 skos:exactMatch ncbigene:219623 semapv:UnspecifiedMatching -OMIM:617804 neurodevelopmental disorder with variable motor and language impairment skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching -OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:28448 semapv:UnspecifiedMatching -OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:TMEM86B semapv:UnspecifiedMatching -OMIM:617806 TMEM86B skos:exactMatch ncbigene:255043 semapv:UnspecifiedMatching -OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:18247 semapv:UnspecifiedMatching -OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:SMU1 semapv:UnspecifiedMatching -OMIM:617811 SMU1 skos:exactMatch ncbigene:55234 semapv:UnspecifiedMatching -OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:28480 semapv:UnspecifiedMatching -OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:SLC35G2 semapv:UnspecifiedMatching -OMIM:617812 SLC35G2 skos:exactMatch ncbigene:80723 semapv:UnspecifiedMatching -OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:32371 semapv:UnspecifiedMatching -OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:TMEM88 semapv:UnspecifiedMatching -OMIM:617813 TMEM88 skos:exactMatch ncbigene:92162 semapv:UnspecifiedMatching -OMIM:617814 TMEM95 skos:exactMatch UMLS:C1823356 semapv:UnspecifiedMatching -OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:27898 semapv:UnspecifiedMatching -OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:TMEM95 semapv:UnspecifiedMatching -OMIM:617814 TMEM95 skos:exactMatch ncbigene:339168 semapv:UnspecifiedMatching -OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:30347 semapv:UnspecifiedMatching -OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:POLR3E semapv:UnspecifiedMatching -OMIM:617815 POLR3E skos:exactMatch ncbigene:55718 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C1425637 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231550 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:18599 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:TUBGCP2 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch ncbigene:10844 semapv:UnspecifiedMatching -OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:18598 semapv:UnspecifiedMatching -OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:TUBGCP3 semapv:UnspecifiedMatching -OMIM:617818 TUBGCP3 skos:exactMatch ncbigene:10426 semapv:UnspecifiedMatching -OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:30279 semapv:UnspecifiedMatching -OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:RALGPS2 semapv:UnspecifiedMatching -OMIM:617819 RALGPS2 skos:exactMatch ncbigene:55103 semapv:UnspecifiedMatching -OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:29406 semapv:UnspecifiedMatching -OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:PWWP2A semapv:UnspecifiedMatching -OMIM:617823 PWWP2A skos:exactMatch ncbigene:114825 semapv:UnspecifiedMatching -OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:12760 semapv:UnspecifiedMatching -OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:BRWD1 semapv:UnspecifiedMatching -OMIM:617824 BRWD1 skos:exactMatch ncbigene:54014 semapv:UnspecifiedMatching -OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:16046 semapv:UnspecifiedMatching -OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:UNC50 semapv:UnspecifiedMatching -OMIM:617826 UNC50 skos:exactMatch ncbigene:25972 semapv:UnspecifiedMatching -OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:20152 semapv:UnspecifiedMatching -OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:ZFHX2 semapv:UnspecifiedMatching -OMIM:617828 ZFHX2 skos:exactMatch ncbigene:85446 semapv:UnspecifiedMatching -OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching -OMIM:617832 SNTN skos:exactMatch hgnc.symbol:33706 semapv:UnspecifiedMatching -OMIM:617832 SNTN skos:exactMatch hgnc.symbol:SNTN semapv:UnspecifiedMatching -OMIM:617832 SNTN skos:exactMatch ncbigene:132203 semapv:UnspecifiedMatching -OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:52658 semapv:UnspecifiedMatching -OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:ZFHX2-AS1 semapv:UnspecifiedMatching -OMIM:617833 ZFHX2AS1 skos:exactMatch ncbigene:109729160 semapv:UnspecifiedMatching -OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:18211 semapv:UnspecifiedMatching -OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:PLEKHJ1 semapv:UnspecifiedMatching -OMIM:617834 PLEKHJ1 skos:exactMatch ncbigene:55111 semapv:UnspecifiedMatching -OMIM:617835 PDPR skos:exactMatch hgnc.symbol:30264 semapv:UnspecifiedMatching -OMIM:617835 PDPR skos:exactMatch hgnc.symbol:PDPR semapv:UnspecifiedMatching -OMIM:617835 PDPR skos:exactMatch ncbigene:55066 semapv:UnspecifiedMatching -OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:32789 semapv:UnspecifiedMatching -OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:GFRAL semapv:UnspecifiedMatching -OMIM:617837 GFRAL skos:exactMatch ncbigene:389400 semapv:UnspecifiedMatching -OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:29288 semapv:UnspecifiedMatching -OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:FAM234B semapv:UnspecifiedMatching -OMIM:617838 FAM234B skos:exactMatch ncbigene:57613 semapv:UnspecifiedMatching -OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:20286 semapv:UnspecifiedMatching -OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:TRIT1 semapv:UnspecifiedMatching -OMIM:617840 TRIT1 skos:exactMatch ncbigene:54802 semapv:UnspecifiedMatching -OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:22985 semapv:UnspecifiedMatching -OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:PSMA8 semapv:UnspecifiedMatching -OMIM:617841 PSMA8 skos:exactMatch ncbigene:143471 semapv:UnspecifiedMatching -OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:9554 semapv:UnspecifiedMatching -OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:PSMD1 semapv:UnspecifiedMatching -OMIM:617842 PSMD1 skos:exactMatch ncbigene:5707 semapv:UnspecifiedMatching -OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:1302 semapv:UnspecifiedMatching -OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:RWDD2B semapv:UnspecifiedMatching -OMIM:617843 RWDD2B skos:exactMatch ncbigene:10069 semapv:UnspecifiedMatching -OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:9566 semapv:UnspecifiedMatching -OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:PSMD8 semapv:UnspecifiedMatching -OMIM:617844 PSMD8 skos:exactMatch ncbigene:5714 semapv:UnspecifiedMatching -OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:37207 semapv:UnspecifiedMatching -OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:MFSD2B semapv:UnspecifiedMatching -OMIM:617845 MFSD2B skos:exactMatch ncbigene:388931 semapv:UnspecifiedMatching -OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:18000 semapv:UnspecifiedMatching -OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:PHF5A semapv:UnspecifiedMatching -OMIM:617846 PHF5A skos:exactMatch ncbigene:84844 semapv:UnspecifiedMatching -OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:21083 semapv:UnspecifiedMatching -OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:SF3B5 semapv:UnspecifiedMatching -OMIM:617847 SF3B5 skos:exactMatch ncbigene:83443 semapv:UnspecifiedMatching -OMIM:617848 DDX46 skos:exactMatch UMLS:C1425701 semapv:UnspecifiedMatching -OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:18681 semapv:UnspecifiedMatching -OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:DDX46 semapv:UnspecifiedMatching -OMIM:617848 DDX46 skos:exactMatch ncbigene:9879 semapv:UnspecifiedMatching -OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:30855 semapv:UnspecifiedMatching -OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:U2SURP semapv:UnspecifiedMatching -OMIM:617849 U2SURP skos:exactMatch ncbigene:23350 semapv:UnspecifiedMatching -OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:17932 semapv:UnspecifiedMatching -OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:SERTAD1 semapv:UnspecifiedMatching -OMIM:617850 SERTAD1 skos:exactMatch ncbigene:29950 semapv:UnspecifiedMatching -OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:30784 semapv:UnspecifiedMatching -OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:SERTAD2 semapv:UnspecifiedMatching -OMIM:617851 SERTAD2 skos:exactMatch ncbigene:9792 semapv:UnspecifiedMatching -OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:17018 semapv:UnspecifiedMatching -OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:SEC23IP semapv:UnspecifiedMatching -OMIM:617852 SEC23IP skos:exactMatch ncbigene:11196 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch UMLS:C1824548 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch hgnc.symbol:29204 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch hgnc.symbol:SVBP semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch ncbigene:374969 semapv:UnspecifiedMatching -OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:26475 semapv:UnspecifiedMatching -OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:BMT2 semapv:UnspecifiedMatching -OMIM:617855 BMT2 skos:exactMatch ncbigene:154743 semapv:UnspecifiedMatching -OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:16839 semapv:UnspecifiedMatching -OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:THEMIS2 semapv:UnspecifiedMatching -OMIM:617856 THEMIS2 skos:exactMatch ncbigene:9473 semapv:UnspecifiedMatching -OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:9564 semapv:UnspecifiedMatching -OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:PSMD6 semapv:UnspecifiedMatching -OMIM:617857 PSMD6 skos:exactMatch ncbigene:9861 semapv:UnspecifiedMatching -OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:9571 semapv:UnspecifiedMatching -OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:PSMF1 semapv:UnspecifiedMatching -OMIM:617858 PSMF1 skos:exactMatch ncbigene:9491 semapv:UnspecifiedMatching -OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:16864 semapv:UnspecifiedMatching -OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:DLGAP5 semapv:UnspecifiedMatching -OMIM:617859 DLGAP5 skos:exactMatch ncbigene:9787 semapv:UnspecifiedMatching -OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:18387 semapv:UnspecifiedMatching -OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:SFTA3 semapv:UnspecifiedMatching -OMIM:617860 SFTA3 skos:exactMatch ncbigene:253970 semapv:UnspecifiedMatching -OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:20178 semapv:UnspecifiedMatching -OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:MYPOP semapv:UnspecifiedMatching -OMIM:617861 MYPOP skos:exactMatch ncbigene:339344 semapv:UnspecifiedMatching -OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch UMLS:C4693405 semapv:UnspecifiedMatching -OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:16842 semapv:UnspecifiedMatching -OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:TP53I11 semapv:UnspecifiedMatching -OMIM:617867 TP53I11 skos:exactMatch ncbigene:9537 semapv:UnspecifiedMatching -OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:25126 semapv:UnspecifiedMatching -OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:NAF1 semapv:UnspecifiedMatching -OMIM:617868 NAF1 skos:exactMatch ncbigene:92345 semapv:UnspecifiedMatching -OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:24975 semapv:UnspecifiedMatching -OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:NKX1-1 semapv:UnspecifiedMatching -OMIM:617869 NKX1-1 skos:exactMatch ncbigene:54729 semapv:UnspecifiedMatching -OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:24238 semapv:UnspecifiedMatching -OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:CEP350 semapv:UnspecifiedMatching -OMIM:617870 CEP350 skos:exactMatch ncbigene:9857 semapv:UnspecifiedMatching -OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:34033 semapv:UnspecifiedMatching -OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:RNU7-1 semapv:UnspecifiedMatching -OMIM:617876 RNU7-1 skos:exactMatch ncbigene:100147744 semapv:UnspecifiedMatching -OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:24071 semapv:UnspecifiedMatching -OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:TUBA3D semapv:UnspecifiedMatching -OMIM:617878 TUBA3D skos:exactMatch ncbigene:113457 semapv:UnspecifiedMatching -OMIM:617880 POC5 skos:exactMatch hgnc.symbol:26658 semapv:UnspecifiedMatching -OMIM:617880 POC5 skos:exactMatch hgnc.symbol:POC5 semapv:UnspecifiedMatching -OMIM:617880 POC5 skos:exactMatch ncbigene:134359 semapv:UnspecifiedMatching -OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:27741 semapv:UnspecifiedMatching -OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:C4orf54 semapv:UnspecifiedMatching -OMIM:617881 C4ORF54 skos:exactMatch ncbigene:285556 semapv:UnspecifiedMatching -OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:14680 semapv:UnspecifiedMatching -OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:HDGFL2 semapv:UnspecifiedMatching -OMIM:617884 HDGFL2 skos:exactMatch ncbigene:84717 semapv:UnspecifiedMatching -OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:29212 semapv:UnspecifiedMatching -OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:ZNF512B semapv:UnspecifiedMatching -OMIM:617886 ZNF512B skos:exactMatch ncbigene:57473 semapv:UnspecifiedMatching -OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:18407 semapv:UnspecifiedMatching -OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:AGMAT semapv:UnspecifiedMatching -OMIM:617887 AGMAT skos:exactMatch ncbigene:79814 semapv:UnspecifiedMatching -OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:29473 semapv:UnspecifiedMatching -OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:ZNF580 semapv:UnspecifiedMatching -OMIM:617888 ZNF580 skos:exactMatch ncbigene:51157 semapv:UnspecifiedMatching -OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:23517 semapv:UnspecifiedMatching -OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:PYROXD2 semapv:UnspecifiedMatching -OMIM:617889 PYROXD2 skos:exactMatch ncbigene:84795 semapv:UnspecifiedMatching -OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:25406 semapv:UnspecifiedMatching -OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:ZNF664 semapv:UnspecifiedMatching -OMIM:617890 ZNF664 skos:exactMatch ncbigene:144348 semapv:UnspecifiedMatching -OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:30899 semapv:UnspecifiedMatching -OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:ZNF655 semapv:UnspecifiedMatching -OMIM:617891 ZNF655 skos:exactMatch ncbigene:79027 semapv:UnspecifiedMatching -OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching -OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch UMLS:C4693523 semapv:UnspecifiedMatching -OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:13631 semapv:UnspecifiedMatching -OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:RPL36 semapv:UnspecifiedMatching -OMIM:617893 RPL36 skos:exactMatch ncbigene:25873 semapv:UnspecifiedMatching -OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:1280 semapv:UnspecifiedMatching -OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:TMEM50B semapv:UnspecifiedMatching -OMIM:617894 TMEM50B skos:exactMatch ncbigene:757 semapv:UnspecifiedMatching -OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:20322 semapv:UnspecifiedMatching -OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:ZIC5 semapv:UnspecifiedMatching -OMIM:617896 ZIC5 skos:exactMatch ncbigene:85416 semapv:UnspecifiedMatching -OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:33113 semapv:UnspecifiedMatching -OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:CSKMT semapv:UnspecifiedMatching -OMIM:617897 CSKMT skos:exactMatch ncbigene:751071 semapv:UnspecifiedMatching -OMIM:617901 DEXI skos:exactMatch hgnc.symbol:13267 semapv:UnspecifiedMatching -OMIM:617901 DEXI skos:exactMatch hgnc.symbol:DEXI semapv:UnspecifiedMatching -OMIM:617901 DEXI skos:exactMatch ncbigene:28955 semapv:UnspecifiedMatching -OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:25012 semapv:UnspecifiedMatching -OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:LGALSL semapv:UnspecifiedMatching -OMIM:617902 LGALSL skos:exactMatch ncbigene:29094 semapv:UnspecifiedMatching -OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching -OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching -OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:28859 semapv:UnspecifiedMatching -OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:HILPDA semapv:UnspecifiedMatching -OMIM:617905 HILPDA skos:exactMatch ncbigene:29923 semapv:UnspecifiedMatching -OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:29523 semapv:UnspecifiedMatching -OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:CFAP20 semapv:UnspecifiedMatching -OMIM:617906 CFAP20 skos:exactMatch ncbigene:29105 semapv:UnspecifiedMatching -OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:23239 semapv:UnspecifiedMatching -OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:ZNF473 semapv:UnspecifiedMatching -OMIM:617908 ZNF473 skos:exactMatch ncbigene:25888 semapv:UnspecifiedMatching -OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:17562 semapv:UnspecifiedMatching -OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:LSM10 semapv:UnspecifiedMatching -OMIM:617909 LSM10 skos:exactMatch ncbigene:84967 semapv:UnspecifiedMatching -OMIM:617910 LSM11 skos:exactMatch hgnc.symbol:30860 semapv:UnspecifiedMatching -OMIM:617910 LSM11 skos:exactMatch hgnc.symbol:LSM11 semapv:UnspecifiedMatching -OMIM:617910 LSM11 skos:exactMatch ncbigene:134353 semapv:UnspecifiedMatching -OMIM:617911 diamond-blackfan anemia-like skos:exactMatch UMLS:C4693556 semapv:UnspecifiedMatching -OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching -OMIM:617916 neurodegeneration with brain iron accumulation 7 skos:exactMatch UMLS:C4693583 semapv:UnspecifiedMatching -OMIM:617917 neurodegeneration with brain iron accumulation 8 skos:exactMatch UMLS:C4693587 semapv:UnspecifiedMatching -OMIM:617918 STRIP1 skos:exactMatch hgnc.symbol:25916 semapv:UnspecifiedMatching -OMIM:617918 STRIP1 skos:exactMatch hgnc.symbol:STRIP1 semapv:UnspecifiedMatching -OMIM:617918 STRIP1 skos:exactMatch ncbigene:85369 semapv:UnspecifiedMatching -OMIM:617919 STRIP2 skos:exactMatch hgnc.symbol:22209 semapv:UnspecifiedMatching -OMIM:617919 STRIP2 skos:exactMatch hgnc.symbol:STRIP2 semapv:UnspecifiedMatching -OMIM:617919 STRIP2 skos:exactMatch ncbigene:57464 semapv:UnspecifiedMatching -OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch UMLS:C4693609 semapv:UnspecifiedMatching -OMIM:617922 GYPA skos:exactMatch hgnc.symbol:4702 semapv:UnspecifiedMatching -OMIM:617922 GYPA skos:exactMatch hgnc.symbol:GYPA semapv:UnspecifiedMatching -OMIM:617922 GYPA skos:exactMatch ncbigene:2993 semapv:UnspecifiedMatching -OMIM:617923 GYPB skos:exactMatch hgnc.symbol:4703 semapv:UnspecifiedMatching -OMIM:617923 GYPB skos:exactMatch hgnc.symbol:GYPB semapv:UnspecifiedMatching -OMIM:617923 GYPB skos:exactMatch ncbigene:2994 semapv:UnspecifiedMatching -OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching -OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching -OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:19974 semapv:UnspecifiedMatching -OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:RHPN2 semapv:UnspecifiedMatching -OMIM:617932 RHPN2 skos:exactMatch ncbigene:85415 semapv:UnspecifiedMatching -OMIM:617933 developmental and epileptic encephalopathy 61 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching -OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:24051 semapv:UnspecifiedMatching -OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:AEBP2 semapv:UnspecifiedMatching -OMIM:617934 AEBP2 skos:exactMatch ncbigene:121536 semapv:UnspecifiedMatching -OMIM:617935 epilepsy, familial focal, with variable foci 4 skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching -OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 semapv:UnspecifiedMatching -OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C0268379 semapv:UnspecifiedMatching -OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1283400 semapv:UnspecifiedMatching -OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1867467 semapv:UnspecifiedMatching -OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:9897 semapv:UnspecifiedMatching -OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:RBM11 semapv:UnspecifiedMatching -OMIM:617937 RBM11 skos:exactMatch ncbigene:54033 semapv:UnspecifiedMatching -OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching -OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:24708 semapv:UnspecifiedMatching -OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:ZFP69 semapv:UnspecifiedMatching -OMIM:617939 ZFP69 skos:exactMatch ncbigene:339559 semapv:UnspecifiedMatching -OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:20364 semapv:UnspecifiedMatching -OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:PLEKHG3 semapv:UnspecifiedMatching -OMIM:617940 PLEKHG3 skos:exactMatch ncbigene:26030 semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch UMLS:C1825237 semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:28756 semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:ABHD17A semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch ncbigene:81926 semapv:UnspecifiedMatching -OMIM:617943 ABHD17B skos:exactMatch UMLS:C1428366 semapv:UnspecifiedMatching -OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:24278 semapv:UnspecifiedMatching -OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:ABHD17B semapv:UnspecifiedMatching -OMIM:617943 ABHD17B skos:exactMatch ncbigene:51104 semapv:UnspecifiedMatching -OMIM:617944 ABHD17C skos:exactMatch UMLS:C3541169 semapv:UnspecifiedMatching -OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:26925 semapv:UnspecifiedMatching -OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:ABHD17C semapv:UnspecifiedMatching -OMIM:617944 ABHD17C skos:exactMatch ncbigene:58489 semapv:UnspecifiedMatching -OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:21019 semapv:UnspecifiedMatching -OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:BTBD8 semapv:UnspecifiedMatching -OMIM:617945 BTBD8 skos:exactMatch ncbigene:284697 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch UMLS:C1825061 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:29205 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:ERGIC1 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch ncbigene:57222 semapv:UnspecifiedMatching -OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:25529 semapv:UnspecifiedMatching -OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:WDR74 semapv:UnspecifiedMatching -OMIM:617947 WDR74 skos:exactMatch ncbigene:54663 semapv:UnspecifiedMatching -OMIM:617948 elliptocytosis 3 skos:exactMatch Orphanet:288 semapv:UnspecifiedMatching -OMIM:617948 elliptocytosis 3 skos:exactMatch UMLS:C1866810 semapv:UnspecifiedMatching -OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:26107 semapv:UnspecifiedMatching -OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:CFAP69 semapv:UnspecifiedMatching -OMIM:617949 CFAP69 skos:exactMatch ncbigene:79846 semapv:UnspecifiedMatching -OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:28318 semapv:UnspecifiedMatching -OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:LRRIQ3 semapv:UnspecifiedMatching -OMIM:617957 LRRIQ3 skos:exactMatch ncbigene:127255 semapv:UnspecifiedMatching -OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:29154 semapv:UnspecifiedMatching -OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:ICE1 semapv:UnspecifiedMatching -OMIM:617958 ICE1 skos:exactMatch ncbigene:23379 semapv:UnspecifiedMatching -OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:27193 semapv:UnspecifiedMatching -OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:ZNF827 semapv:UnspecifiedMatching -OMIM:617962 ZNF827 skos:exactMatch ncbigene:152485 semapv:UnspecifiedMatching -OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:20122 semapv:UnspecifiedMatching -OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:TDRD9 semapv:UnspecifiedMatching -OMIM:617963 TDRD9 skos:exactMatch ncbigene:122402 semapv:UnspecifiedMatching -OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:30711 semapv:UnspecifiedMatching -OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:DNAI3 semapv:UnspecifiedMatching -OMIM:617968 WDR63 skos:exactMatch ncbigene:126820 semapv:UnspecifiedMatching -OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:26669 semapv:UnspecifiedMatching -OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:CCDC63 semapv:UnspecifiedMatching -OMIM:617969 CCDC63 skos:exactMatch ncbigene:160762 semapv:UnspecifiedMatching -OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:20749 semapv:UnspecifiedMatching -OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:ZDHHC20 semapv:UnspecifiedMatching -OMIM:617972 ZDHHC20 skos:exactMatch ncbigene:253832 semapv:UnspecifiedMatching -OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:28346 semapv:UnspecifiedMatching -OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:FAM210A semapv:UnspecifiedMatching -OMIM:617975 FAM210A skos:exactMatch ncbigene:125228 semapv:UnspecifiedMatching -OMIM:617976 developmental and epileptic encephalopathy 63 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching -OMIM:617978 CYRIB skos:exactMatch hgnc.symbol:25216 semapv:UnspecifiedMatching -OMIM:617978 CYRIB skos:exactMatch hgnc.symbol:CYRIB semapv:UnspecifiedMatching -OMIM:617978 CYRIB skos:exactMatch ncbigene:51571 semapv:UnspecifiedMatching -OMIM:617979 long noncoding RNA near acod1 skos:exactMatch ncbigene:105370268 semapv:UnspecifiedMatching -OMIM:617986 LDLRAD3 skos:exactMatch hgnc.symbol:27046 semapv:UnspecifiedMatching -OMIM:617986 LDLRAD3 skos:exactMatch hgnc.symbol:LDLRAD3 semapv:UnspecifiedMatching -OMIM:617986 LDLRAD3 skos:exactMatch ncbigene:143458 semapv:UnspecifiedMatching -OMIM:617987 METTL13 skos:exactMatch hgnc.symbol:24248 semapv:UnspecifiedMatching -OMIM:617987 METTL13 skos:exactMatch hgnc.symbol:METTL13 semapv:UnspecifiedMatching -OMIM:617987 METTL13 skos:exactMatch ncbigene:51603 semapv:UnspecifiedMatching -OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:19844 semapv:UnspecifiedMatching -OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:NAA30 semapv:UnspecifiedMatching -OMIM:617989 NAA30 skos:exactMatch ncbigene:122830 semapv:UnspecifiedMatching -OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:28212 semapv:UnspecifiedMatching -OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:NAA38 semapv:UnspecifiedMatching -OMIM:617990 NAA38 skos:exactMatch ncbigene:84316 semapv:UnspecifiedMatching -OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching -OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch UMLS:C4693863 semapv:UnspecifiedMatching -OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching -OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch UMLS:C4693864 semapv:UnspecifiedMatching -OMIM:617996 oocyte/zygote/embryo maturation arrest 5 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching -OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:30457 semapv:UnspecifiedMatching -OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:RCCD1 semapv:UnspecifiedMatching -OMIM:617997 RCCD1 skos:exactMatch ncbigene:91433 semapv:UnspecifiedMatching -OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:26136 semapv:UnspecifiedMatching -OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:GAREM1 semapv:UnspecifiedMatching -OMIM:617998 GAREM1 skos:exactMatch ncbigene:64762 semapv:UnspecifiedMatching -OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:27172 semapv:UnspecifiedMatching -OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:GAREM2 semapv:UnspecifiedMatching -OMIM:617999 GAREM2 skos:exactMatch ncbigene:150946 semapv:UnspecifiedMatching -OMIM:618001 RELCH skos:exactMatch hgnc.symbol:29289 semapv:UnspecifiedMatching -OMIM:618001 RELCH skos:exactMatch hgnc.symbol:RELCH semapv:UnspecifiedMatching -OMIM:618001 RELCH skos:exactMatch ncbigene:57614 semapv:UnspecifiedMatching -OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:19037 semapv:UnspecifiedMatching -OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:MAST4 semapv:UnspecifiedMatching -OMIM:618002 MAST4 skos:exactMatch ncbigene:375449 semapv:UnspecifiedMatching -OMIM:618004 developmental and epileptic encephalopathy 64 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching -OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 skos:exactMatch UMLS:C4693905 semapv:UnspecifiedMatching -OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching -OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching -OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch UMLS:C4747891 semapv:UnspecifiedMatching -OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:18666 semapv:UnspecifiedMatching -OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:RNPC3 semapv:UnspecifiedMatching -OMIM:618016 RNPC3 skos:exactMatch ncbigene:55599 semapv:UnspecifiedMatching -OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:23471 semapv:UnspecifiedMatching -OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:ANKRD16 semapv:UnspecifiedMatching -OMIM:618017 ANKRD16 skos:exactMatch ncbigene:54522 semapv:UnspecifiedMatching -OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:25888 semapv:UnspecifiedMatching -OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:KLHL22 semapv:UnspecifiedMatching -OMIM:618020 KLHL22 skos:exactMatch ncbigene:84861 semapv:UnspecifiedMatching -OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:31862 semapv:UnspecifiedMatching -OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:NOTCH2NLA semapv:UnspecifiedMatching -OMIM:618023 NOTCH2NLA skos:exactMatch ncbigene:388677 semapv:UnspecifiedMatching -OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:53923 semapv:UnspecifiedMatching -OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:NOTCH2NLB semapv:UnspecifiedMatching -OMIM:618024 NOTCH2NLB skos:exactMatch ncbigene:100996763 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C4747952 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:53924 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:NOTCH2NLC semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch ncbigene:100996717 semapv:UnspecifiedMatching -OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:53925 semapv:UnspecifiedMatching -OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:NOTCH2NLR semapv:UnspecifiedMatching -OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:26318 semapv:UnspecifiedMatching -OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:SHLD1 semapv:UnspecifiedMatching -OMIM:618028 SHLD1 skos:exactMatch ncbigene:149840 semapv:UnspecifiedMatching -OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:28773 semapv:UnspecifiedMatching -OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:SHLD2 semapv:UnspecifiedMatching -OMIM:618029 SHLD2 skos:exactMatch ncbigene:54537 semapv:UnspecifiedMatching -OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:53826 semapv:UnspecifiedMatching -OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:SHLD3 semapv:UnspecifiedMatching -OMIM:618030 SHLD3 skos:exactMatch ncbigene:112441434 semapv:UnspecifiedMatching -OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:26273 semapv:UnspecifiedMatching -OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:ZNF768 semapv:UnspecifiedMatching -OMIM:618032 ZNF768 skos:exactMatch ncbigene:79724 semapv:UnspecifiedMatching -OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:25173 semapv:UnspecifiedMatching -OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:ZNF689 semapv:UnspecifiedMatching -OMIM:618033 ZNF689 skos:exactMatch ncbigene:115509 semapv:UnspecifiedMatching -OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:17466 semapv:UnspecifiedMatching -OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:SLC43A3 semapv:UnspecifiedMatching -OMIM:618034 SLC43A3 skos:exactMatch ncbigene:29015 semapv:UnspecifiedMatching -OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:21710 semapv:UnspecifiedMatching -OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:TBC1D9 semapv:UnspecifiedMatching -OMIM:618035 TBC1D9 skos:exactMatch ncbigene:23158 semapv:UnspecifiedMatching -OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:29025 semapv:UnspecifiedMatching -OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:ZNF536 semapv:UnspecifiedMatching -OMIM:618037 ZNF536 skos:exactMatch ncbigene:9745 semapv:UnspecifiedMatching -OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:26535 semapv:UnspecifiedMatching -OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:SHOC1 semapv:UnspecifiedMatching -OMIM:618038 SHOC1 skos:exactMatch ncbigene:158401 semapv:UnspecifiedMatching -OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:29097 semapv:UnspecifiedMatching -OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:TBC1D9B semapv:UnspecifiedMatching -OMIM:618039 TBC1D9B skos:exactMatch ncbigene:23061 semapv:UnspecifiedMatching -OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:16757 semapv:UnspecifiedMatching -OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:DGCR5 semapv:UnspecifiedMatching -OMIM:618040 DGCR5 skos:exactMatch ncbigene:26220 semapv:UnspecifiedMatching -OMIM:618041 PURG skos:exactMatch hgnc.symbol:17930 semapv:UnspecifiedMatching -OMIM:618041 PURG skos:exactMatch hgnc.symbol:PURG semapv:UnspecifiedMatching -OMIM:618041 PURG skos:exactMatch ncbigene:29942 semapv:UnspecifiedMatching -OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:9224 semapv:UnspecifiedMatching -OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:POU6F1 semapv:UnspecifiedMatching -OMIM:618043 POU6F1 skos:exactMatch ncbigene:5463 semapv:UnspecifiedMatching -OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:29062 semapv:UnspecifiedMatching -OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:C2CD5 semapv:UnspecifiedMatching -OMIM:618044 C2CD5 skos:exactMatch ncbigene:9847 semapv:UnspecifiedMatching -OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:26351 semapv:UnspecifiedMatching -OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:DDIAS semapv:UnspecifiedMatching -OMIM:618045 DDIAS skos:exactMatch ncbigene:220042 semapv:UnspecifiedMatching -OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:8179 semapv:UnspecifiedMatching -OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:OR1A1 semapv:UnspecifiedMatching -OMIM:618046 OR1A1 skos:exactMatch ncbigene:8383 semapv:UnspecifiedMatching -OMIM:618047 OR1A2 skos:exactMatch hgnc.symbol:8180 semapv:UnspecifiedMatching -OMIM:618047 OR1A2 skos:exactMatch hgnc.symbol:OR1A2 semapv:UnspecifiedMatching -OMIM:618047 OR1A2 skos:exactMatch ncbigene:26189 semapv:UnspecifiedMatching -OMIM:618051 INAVA skos:exactMatch hgnc.symbol:25599 semapv:UnspecifiedMatching -OMIM:618051 INAVA skos:exactMatch hgnc.symbol:INAVA semapv:UnspecifiedMatching -OMIM:618051 INAVA skos:exactMatch ncbigene:55765 semapv:UnspecifiedMatching -OMIM:618053 ARLNC1 skos:exactMatch hgnc.symbol:53032 semapv:UnspecifiedMatching -OMIM:618053 ARLNC1 skos:exactMatch hgnc.symbol:ARLNC1 semapv:UnspecifiedMatching -OMIM:618053 ARLNC1 skos:exactMatch ncbigene:100996425 semapv:UnspecifiedMatching -OMIM:618054 MINAR1 skos:exactMatch hgnc.symbol:29172 semapv:UnspecifiedMatching -OMIM:618054 MINAR1 skos:exactMatch hgnc.symbol:MINAR1 semapv:UnspecifiedMatching -OMIM:618054 MINAR1 skos:exactMatch ncbigene:23251 semapv:UnspecifiedMatching -OMIM:618055 CREG1 skos:exactMatch hgnc.symbol:2351 semapv:UnspecifiedMatching -OMIM:618055 CREG1 skos:exactMatch hgnc.symbol:CREG1 semapv:UnspecifiedMatching -OMIM:618055 CREG1 skos:exactMatch ncbigene:8804 semapv:UnspecifiedMatching -OMIM:618058 CFAP300 skos:exactMatch UMLS:C1824336 semapv:UnspecifiedMatching -OMIM:618058 CFAP300 skos:exactMatch UMLS:C4748052 semapv:UnspecifiedMatching -OMIM:618058 CFAP300 skos:exactMatch hgnc.symbol:28188 semapv:UnspecifiedMatching -OMIM:618058 CFAP300 skos:exactMatch hgnc.symbol:CFAP300 semapv:UnspecifiedMatching -OMIM:618058 CFAP300 skos:exactMatch ncbigene:85016 semapv:UnspecifiedMatching -OMIM:618059 WDR25 skos:exactMatch hgnc.symbol:21064 semapv:UnspecifiedMatching -OMIM:618059 WDR25 skos:exactMatch hgnc.symbol:WDR25 semapv:UnspecifiedMatching -OMIM:618059 WDR25 skos:exactMatch ncbigene:79446 semapv:UnspecifiedMatching -OMIM:618062 CRISP3 skos:exactMatch hgnc.symbol:16904 semapv:UnspecifiedMatching -OMIM:618062 CRISP3 skos:exactMatch hgnc.symbol:CRISP3 semapv:UnspecifiedMatching -OMIM:618062 CRISP3 skos:exactMatch ncbigene:10321 semapv:UnspecifiedMatching -OMIM:618064 COX16 skos:exactMatch hgnc.symbol:20213 semapv:UnspecifiedMatching -OMIM:618064 COX16 skos:exactMatch hgnc.symbol:COX16 semapv:UnspecifiedMatching -OMIM:618064 COX16 skos:exactMatch ncbigene:51241 semapv:UnspecifiedMatching -OMIM:618065 pontocerebellar hypoplasia, iia 1d skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching -OMIM:618066 HOXBAS1 skos:exactMatch hgnc.symbol:43744 semapv:UnspecifiedMatching -OMIM:618066 HOXBAS1 skos:exactMatch hgnc.symbol:HOXB-AS1 semapv:UnspecifiedMatching -OMIM:618066 HOXBAS1 skos:exactMatch ncbigene:100874362 semapv:UnspecifiedMatching -OMIM:618067 developmental and epileptic encephalopathy 66 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching -OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:30721 semapv:UnspecifiedMatching -OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:SPZ1 semapv:UnspecifiedMatching -OMIM:618068 SPZ1 skos:exactMatch ncbigene:84654 semapv:UnspecifiedMatching -OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:18042 semapv:UnspecifiedMatching -OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:CNOT6L semapv:UnspecifiedMatching -OMIM:618069 CNOT6L skos:exactMatch ncbigene:246175 semapv:UnspecifiedMatching -OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:18264 semapv:UnspecifiedMatching -OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:ATP6V1C2 semapv:UnspecifiedMatching -OMIM:618070 ATP6V1C2 skos:exactMatch ncbigene:245973 semapv:UnspecifiedMatching -OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:18265 semapv:UnspecifiedMatching -OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:ATP6V1G3 semapv:UnspecifiedMatching -OMIM:618071 ATP6V1G3 skos:exactMatch ncbigene:127124 semapv:UnspecifiedMatching -OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:18266 semapv:UnspecifiedMatching -OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:ATP6V0D2 semapv:UnspecifiedMatching -OMIM:618072 ATP6V0D2 skos:exactMatch ncbigene:245972 semapv:UnspecifiedMatching -OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:31750 semapv:UnspecifiedMatching -OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:SAMD12 semapv:UnspecifiedMatching -OMIM:618073 SAMD12 skos:exactMatch ncbigene:401474 semapv:UnspecifiedMatching -OMIM:618074 epilepsy, familial adult myoclonic, 6 skos:exactMatch UMLS:C4748079 semapv:UnspecifiedMatching -OMIM:618075 epilepsy, familial adult myoclonic, 7 skos:exactMatch UMLS:C4748080 semapv:UnspecifiedMatching -OMIM:618077 inflammatory bowel disease 29 skos:exactMatch UMLS:C4748083 semapv:UnspecifiedMatching -OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:20451 semapv:UnspecifiedMatching -OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:WDFY1 semapv:UnspecifiedMatching -OMIM:618080 WDFY1 skos:exactMatch ncbigene:57590 semapv:UnspecifiedMatching -OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:18131 semapv:UnspecifiedMatching -OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:ILDR2 semapv:UnspecifiedMatching -OMIM:618081 ILDR2 skos:exactMatch ncbigene:387597 semapv:UnspecifiedMatching -OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:25651 semapv:UnspecifiedMatching -OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:WDR33 semapv:UnspecifiedMatching -OMIM:618082 WDR33 skos:exactMatch ncbigene:55339 semapv:UnspecifiedMatching -OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:16461 semapv:UnspecifiedMatching -OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:WBP11 semapv:UnspecifiedMatching -OMIM:618083 WBP11 skos:exactMatch ncbigene:51729 semapv:UnspecifiedMatching -OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:17728 semapv:UnspecifiedMatching -OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:PMFBP1 semapv:UnspecifiedMatching -OMIM:618085 PMFBP1 skos:exactMatch ncbigene:83449 semapv:UnspecifiedMatching -OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch UMLS:C4748127 semapv:UnspecifiedMatching -OMIM:618099 MRM1 skos:exactMatch hgnc.symbol:26202 semapv:UnspecifiedMatching -OMIM:618099 MRM1 skos:exactMatch hgnc.symbol:MRM1 semapv:UnspecifiedMatching -OMIM:618099 MRM1 skos:exactMatch ncbigene:79922 semapv:UnspecifiedMatching -OMIM:618100 MPV17L skos:exactMatch hgnc.symbol:26827 semapv:UnspecifiedMatching -OMIM:618100 MPV17L skos:exactMatch hgnc.symbol:MPV17L semapv:UnspecifiedMatching -OMIM:618100 MPV17L skos:exactMatch ncbigene:255027 semapv:UnspecifiedMatching -OMIM:618101 MMP27 skos:exactMatch hgnc.symbol:14250 semapv:UnspecifiedMatching -OMIM:618101 MMP27 skos:exactMatch hgnc.symbol:MMP27 semapv:UnspecifiedMatching -OMIM:618101 MMP27 skos:exactMatch ncbigene:64066 semapv:UnspecifiedMatching -OMIM:618102 SIMC1 skos:exactMatch hgnc.symbol:24779 semapv:UnspecifiedMatching -OMIM:618102 SIMC1 skos:exactMatch hgnc.symbol:SIMC1 semapv:UnspecifiedMatching -OMIM:618102 SIMC1 skos:exactMatch ncbigene:375484 semapv:UnspecifiedMatching -OMIM:618104 MMEL1 skos:exactMatch hgnc.symbol:14668 semapv:UnspecifiedMatching -OMIM:618104 MMEL1 skos:exactMatch hgnc.symbol:MMEL1 semapv:UnspecifiedMatching -OMIM:618104 MMEL1 skos:exactMatch ncbigene:79258 semapv:UnspecifiedMatching -OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:27596 semapv:UnspecifiedMatching -OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:SIGLEC15 semapv:UnspecifiedMatching -OMIM:618105 SIGLEC15 skos:exactMatch ncbigene:284266 semapv:UnspecifiedMatching -OMIM:618108 immunodeficiency 57 with autoinflammation skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching -OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching -OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch UMLS:C4748219 semapv:UnspecifiedMatching -OMIM:618111 ZFP64 skos:exactMatch UMLS:C1423846 semapv:UnspecifiedMatching -OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:15940 semapv:UnspecifiedMatching -OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:ZFP64 semapv:UnspecifiedMatching -OMIM:618111 ZFP64 skos:exactMatch ncbigene:55734 semapv:UnspecifiedMatching -OMIM:618114 liddle syndrome 2 skos:exactMatch Orphanet:526 semapv:UnspecifiedMatching -OMIM:618114 liddle syndrome 2 skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching -OMIM:618118 EML3 skos:exactMatch UMLS:C1825051 semapv:UnspecifiedMatching -OMIM:618118 EML3 skos:exactMatch hgnc.symbol:26666 semapv:UnspecifiedMatching -OMIM:618118 EML3 skos:exactMatch hgnc.symbol:EML3 semapv:UnspecifiedMatching -OMIM:618118 EML3 skos:exactMatch ncbigene:256364 semapv:UnspecifiedMatching -OMIM:618119 EML5 skos:exactMatch hgnc.symbol:18197 semapv:UnspecifiedMatching -OMIM:618119 EML5 skos:exactMatch hgnc.symbol:EML5 semapv:UnspecifiedMatching -OMIM:618119 EML5 skos:exactMatch ncbigene:161436 semapv:UnspecifiedMatching -OMIM:618121 ATP5PD skos:exactMatch UMLS:C1412666 semapv:UnspecifiedMatching -OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:845 semapv:UnspecifiedMatching -OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:ATP5PD semapv:UnspecifiedMatching -OMIM:618121 ATP5PD skos:exactMatch ncbigene:10476 semapv:UnspecifiedMatching -OMIM:618122 MTREX skos:exactMatch hgnc.symbol:18734 semapv:UnspecifiedMatching -OMIM:618122 MTREX skos:exactMatch hgnc.symbol:MTREX semapv:UnspecifiedMatching -OMIM:618122 MTREX skos:exactMatch ncbigene:23517 semapv:UnspecifiedMatching -OMIM:618125 KASH5 skos:exactMatch hgnc.symbol:26520 semapv:UnspecifiedMatching -OMIM:618125 KASH5 skos:exactMatch hgnc.symbol:KASH5 semapv:UnspecifiedMatching -OMIM:618125 KASH5 skos:exactMatch ncbigene:147872 semapv:UnspecifiedMatching -OMIM:618127 COX6B2 skos:exactMatch hgnc.symbol:24380 semapv:UnspecifiedMatching -OMIM:618127 COX6B2 skos:exactMatch hgnc.symbol:COX6B2 semapv:UnspecifiedMatching -OMIM:618127 COX6B2 skos:exactMatch ncbigene:125965 semapv:UnspecifiedMatching -OMIM:618128 GDAP2 skos:exactMatch hgnc.symbol:18010 semapv:UnspecifiedMatching -OMIM:618128 GDAP2 skos:exactMatch hgnc.symbol:GDAP2 semapv:UnspecifiedMatching -OMIM:618128 GDAP2 skos:exactMatch ncbigene:54834 semapv:UnspecifiedMatching -OMIM:618130 NECAB2 skos:exactMatch hgnc.symbol:23746 semapv:UnspecifiedMatching -OMIM:618130 NECAB2 skos:exactMatch hgnc.symbol:NECAB2 semapv:UnspecifiedMatching -OMIM:618130 NECAB2 skos:exactMatch ncbigene:54550 semapv:UnspecifiedMatching -OMIM:618132 SIGLEC14 skos:exactMatch hgnc.symbol:32926 semapv:UnspecifiedMatching -OMIM:618132 SIGLEC14 skos:exactMatch hgnc.symbol:SIGLEC14 semapv:UnspecifiedMatching -OMIM:618132 SIGLEC14 skos:exactMatch ncbigene:100049587 semapv:UnspecifiedMatching -OMIM:618133 NXPE4 skos:exactMatch hgnc.symbol:23117 semapv:UnspecifiedMatching -OMIM:618133 NXPE4 skos:exactMatch hgnc.symbol:NXPE4 semapv:UnspecifiedMatching -OMIM:618133 NXPE4 skos:exactMatch ncbigene:54827 semapv:UnspecifiedMatching -OMIM:618134 UTS2B skos:exactMatch hgnc.symbol:30894 semapv:UnspecifiedMatching -OMIM:618134 UTS2B skos:exactMatch hgnc.symbol:UTS2B semapv:UnspecifiedMatching -OMIM:618134 UTS2B skos:exactMatch ncbigene:257313 semapv:UnspecifiedMatching -OMIM:618136 MAD2L1BP skos:exactMatch hgnc.symbol:21059 semapv:UnspecifiedMatching -OMIM:618136 MAD2L1BP skos:exactMatch hgnc.symbol:MAD2L1BP semapv:UnspecifiedMatching -OMIM:618136 MAD2L1BP skos:exactMatch ncbigene:9587 semapv:UnspecifiedMatching -OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc.symbol:1286 semapv:UnspecifiedMatching -OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc.symbol:MIS18A semapv:UnspecifiedMatching -OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch ncbigene:54069 semapv:UnspecifiedMatching -OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:20190 semapv:UnspecifiedMatching -OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:MIS18BP1 semapv:UnspecifiedMatching -OMIM:618139 MIS18BP1 skos:exactMatch ncbigene:55320 semapv:UnspecifiedMatching -OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching -OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch UMLS:C1823830 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch UMLS:C4748395 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:28506 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:CFAP251 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch ncbigene:144406 semapv:UnspecifiedMatching -OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch Orphanet:562538 semapv:UnspecifiedMatching -OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch UMLS:C4748387 semapv:UnspecifiedMatching -OMIM:618149 orofacial cleft 8 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching -OMIM:618149 orofacial cleft 8 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching -OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:13922 semapv:UnspecifiedMatching -OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:TSBP1 semapv:UnspecifiedMatching -OMIM:618151 TSBP1 skos:exactMatch ncbigene:10665 semapv:UnspecifiedMatching -OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch Orphanet:231671 semapv:UnspecifiedMatching -OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch UMLS:C4722273 semapv:UnspecifiedMatching -OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch UMLS:C4748428 semapv:UnspecifiedMatching -OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:30595 semapv:UnspecifiedMatching -OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:PPP1R21 semapv:UnspecifiedMatching -OMIM:618159 PPP1R21 skos:exactMatch ncbigene:129285 semapv:UnspecifiedMatching -OMIM:618161 joubert syndrome 35 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching -OMIM:618161 joubert syndrome 35 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching -OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:28983 semapv:UnspecifiedMatching -OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:TMEM94 semapv:UnspecifiedMatching -OMIM:618163 TMEM94 skos:exactMatch ncbigene:9772 semapv:UnspecifiedMatching -OMIM:618164 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch UMLS:C4748484 semapv:UnspecifiedMatching -OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:26847 semapv:UnspecifiedMatching -OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:CNTD1 semapv:UnspecifiedMatching -OMIM:618166 CNTD1 skos:exactMatch ncbigene:124817 semapv:UnspecifiedMatching -OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:49513 semapv:UnspecifiedMatching -OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:PANTR1 semapv:UnspecifiedMatching -OMIM:618169 PANTR1 skos:exactMatch ncbigene:100506421 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch UMLS:C1423791 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:15869 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:KIF16B semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch ncbigene:55614 semapv:UnspecifiedMatching -OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:40992 semapv:UnspecifiedMatching -OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:LUARIS semapv:UnspecifiedMatching -OMIM:618172 LUARIS skos:exactMatch ncbigene:100506895 semapv:UnspecifiedMatching -OMIM:618173 retinitis pigmentosa 83 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618173 retinitis pigmentosa 83 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching -OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch UMLS:C4748545 semapv:UnspecifiedMatching -OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch UMLS:C4748549 semapv:UnspecifiedMatching -OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching -OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch UMLS:C4748552 semapv:UnspecifiedMatching -OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:16740 semapv:UnspecifiedMatching -OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:ZBTB11 semapv:UnspecifiedMatching -OMIM:618181 ZBTB11 skos:exactMatch ncbigene:27107 semapv:UnspecifiedMatching -OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching -OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch UMLS:C4748608 semapv:UnspecifiedMatching -OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:48498 semapv:UnspecifiedMatching -OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:LUCAT1 semapv:UnspecifiedMatching -OMIM:618190 LUCAT1 skos:exactMatch ncbigene:100505994 semapv:UnspecifiedMatching -OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:28834 semapv:UnspecifiedMatching -OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:CEACAM21 semapv:UnspecifiedMatching -OMIM:618191 CEACAM21 skos:exactMatch ncbigene:90273 semapv:UnspecifiedMatching -OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:49593 semapv:UnspecifiedMatching -OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:PCAT19 semapv:UnspecifiedMatching -OMIM:618192 PCAT19 skos:exactMatch ncbigene:100505495 semapv:UnspecifiedMatching -OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch Orphanet:2770 semapv:UnspecifiedMatching -OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching -OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:26641 semapv:UnspecifiedMatching -OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:SSC5D semapv:UnspecifiedMatching -OMIM:618194 SSC5D skos:exactMatch ncbigene:284297 semapv:UnspecifiedMatching -OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch Orphanet:98914 semapv:UnspecifiedMatching -OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching -OMIM:618199 A1CF skos:exactMatch hgnc.symbol:24086 semapv:UnspecifiedMatching -OMIM:618199 A1CF skos:exactMatch hgnc.symbol:A1CF semapv:UnspecifiedMatching -OMIM:618199 A1CF skos:exactMatch ncbigene:29974 semapv:UnspecifiedMatching -OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:18302 semapv:UnspecifiedMatching -OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:MDN1 semapv:UnspecifiedMatching -OMIM:618200 MDN1 skos:exactMatch ncbigene:23195 semapv:UnspecifiedMatching -OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching -OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:16410 semapv:UnspecifiedMatching -OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:DNAJC30 semapv:UnspecifiedMatching -OMIM:618202 DNAJC30 skos:exactMatch ncbigene:84277 semapv:UnspecifiedMatching -OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:25904 semapv:UnspecifiedMatching -OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:TMTC4 semapv:UnspecifiedMatching -OMIM:618203 TMTC4 skos:exactMatch ncbigene:84899 semapv:UnspecifiedMatching -OMIM:618204 immunodeficiency 15a skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching -OMIM:618204 immunodeficiency 15a skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching -OMIM:618206 ZC3H7B skos:exactMatch hgnc.symbol:30869 semapv:UnspecifiedMatching -OMIM:618206 ZC3H7B skos:exactMatch hgnc.symbol:ZC3H7B semapv:UnspecifiedMatching -OMIM:618206 ZC3H7B skos:exactMatch ncbigene:23264 semapv:UnspecifiedMatching -OMIM:618207 SCFD1 skos:exactMatch hgnc.symbol:20726 semapv:UnspecifiedMatching -OMIM:618207 SCFD1 skos:exactMatch hgnc.symbol:SCFD1 semapv:UnspecifiedMatching -OMIM:618207 SCFD1 skos:exactMatch ncbigene:23256 semapv:UnspecifiedMatching -OMIM:618208 LINC01159 skos:exactMatch hgnc.symbol:49514 semapv:UnspecifiedMatching -OMIM:618208 LINC01159 skos:exactMatch hgnc.symbol:LINC01159 semapv:UnspecifiedMatching -OMIM:618208 LINC01159 skos:exactMatch ncbigene:102682016 semapv:UnspecifiedMatching -OMIM:618209 HAGLR skos:exactMatch hgnc.symbol:43755 semapv:UnspecifiedMatching -OMIM:618209 HAGLR skos:exactMatch hgnc.symbol:HAGLR semapv:UnspecifiedMatching -OMIM:618209 HAGLR skos:exactMatch ncbigene:401022 semapv:UnspecifiedMatching -OMIM:618210 RFTN1 skos:exactMatch hgnc.symbol:30278 semapv:UnspecifiedMatching -OMIM:618210 RFTN1 skos:exactMatch hgnc.symbol:RFTN1 semapv:UnspecifiedMatching -OMIM:618210 RFTN1 skos:exactMatch ncbigene:23180 semapv:UnspecifiedMatching -OMIM:618211 PITRM1 skos:exactMatch hgnc.symbol:17663 semapv:UnspecifiedMatching -OMIM:618211 PITRM1 skos:exactMatch hgnc.symbol:PITRM1 semapv:UnspecifiedMatching -OMIM:618211 PITRM1 skos:exactMatch ncbigene:10531 semapv:UnspecifiedMatching -OMIM:618212 LINC-PINT skos:exactMatch hgnc.symbol:26885 semapv:UnspecifiedMatching -OMIM:618212 LINC-PINT skos:exactMatch hgnc.symbol:LINC-PINT semapv:UnspecifiedMatching -OMIM:618212 LINC-PINT skos:exactMatch ncbigene:378805 semapv:UnspecifiedMatching -OMIM:618214 LINC01157 skos:exactMatch hgnc.symbol:49512 semapv:UnspecifiedMatching -OMIM:618214 LINC01157 skos:exactMatch hgnc.symbol:LINC01157 semapv:UnspecifiedMatching -OMIM:618214 LINC01157 skos:exactMatch ncbigene:105379037 semapv:UnspecifiedMatching -OMIM:618215 RFTN2 skos:exactMatch hgnc.symbol:26402 semapv:UnspecifiedMatching -OMIM:618215 RFTN2 skos:exactMatch hgnc.symbol:RFTN2 semapv:UnspecifiedMatching -OMIM:618215 RFTN2 skos:exactMatch ncbigene:130132 semapv:UnspecifiedMatching -OMIM:618216 MIRLET7BHG skos:exactMatch hgnc.symbol:37189 semapv:UnspecifiedMatching -OMIM:618216 MIRLET7BHG skos:exactMatch hgnc.symbol:MIRLET7BHG semapv:UnspecifiedMatching -OMIM:618216 MIRLET7BHG skos:exactMatch ncbigene:400931 semapv:UnspecifiedMatching -OMIM:618217 ELDR skos:exactMatch hgnc.symbol:49511 semapv:UnspecifiedMatching -OMIM:618217 ELDR skos:exactMatch hgnc.symbol:ELDR semapv:UnspecifiedMatching -OMIM:618217 ELDR skos:exactMatch ncbigene:102725541 semapv:UnspecifiedMatching -OMIM:618220 retinitis pigmentosa 84 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618220 retinitis pigmentosa 84 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching -OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:25430 semapv:UnspecifiedMatching -OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:LRRC56 semapv:UnspecifiedMatching -OMIM:618227 LRRC56 skos:exactMatch ncbigene:115399 semapv:UnspecifiedMatching -OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching -OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch UMLS:C4722258 semapv:UnspecifiedMatching -OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching -OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching -OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching -OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching -OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching -OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching -OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching -OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch UMLS:C4748799 semapv:UnspecifiedMatching -OMIM:618255 MYORG skos:exactMatch hgnc.symbol:19918 semapv:UnspecifiedMatching -OMIM:618255 MYORG skos:exactMatch hgnc.symbol:MYORG semapv:UnspecifiedMatching -OMIM:618255 MYORG skos:exactMatch ncbigene:57462 semapv:UnspecifiedMatching -OMIM:618258 SEC11A skos:exactMatch hgnc.symbol:17718 semapv:UnspecifiedMatching -OMIM:618258 SEC11A skos:exactMatch hgnc.symbol:SEC11A semapv:UnspecifiedMatching -OMIM:618258 SEC11A skos:exactMatch ncbigene:23478 semapv:UnspecifiedMatching -OMIM:618259 LINC01565 skos:exactMatch hgnc.symbol:17099 semapv:UnspecifiedMatching -OMIM:618259 LINC01565 skos:exactMatch hgnc.symbol:LINC01565 semapv:UnspecifiedMatching -OMIM:618259 LINC01565 skos:exactMatch ncbigene:23434 semapv:UnspecifiedMatching -OMIM:618260 CCDC47 skos:exactMatch hgnc.symbol:24856 semapv:UnspecifiedMatching -OMIM:618260 CCDC47 skos:exactMatch hgnc.symbol:CCDC47 semapv:UnspecifiedMatching -OMIM:618260 CCDC47 skos:exactMatch ncbigene:57003 semapv:UnspecifiedMatching -OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch Orphanet:538958 semapv:UnspecifiedMatching -OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch UMLS:C4748863 semapv:UnspecifiedMatching -OMIM:618262 CREB5 skos:exactMatch hgnc.symbol:16844 semapv:UnspecifiedMatching -OMIM:618262 CREB5 skos:exactMatch hgnc.symbol:CREB5 semapv:UnspecifiedMatching -OMIM:618262 CREB5 skos:exactMatch ncbigene:9586 semapv:UnspecifiedMatching -OMIM:618263 CALHM3 skos:exactMatch hgnc.symbol:23458 semapv:UnspecifiedMatching -OMIM:618263 CALHM3 skos:exactMatch hgnc.symbol:CALHM3 semapv:UnspecifiedMatching -OMIM:618263 CALHM3 skos:exactMatch ncbigene:119395 semapv:UnspecifiedMatching -OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:15992 semapv:UnspecifiedMatching -OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:ZNF341 semapv:UnspecifiedMatching -OMIM:618269 ZNF341 skos:exactMatch ncbigene:84905 semapv:UnspecifiedMatching -OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:17702 semapv:UnspecifiedMatching -OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:SEC61A2 semapv:UnspecifiedMatching -OMIM:618271 SEC61A2 skos:exactMatch ncbigene:55176 semapv:UnspecifiedMatching -OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:28954 semapv:UnspecifiedMatching -OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:PPWD1 semapv:UnspecifiedMatching -OMIM:618274 PPWD1 skos:exactMatch ncbigene:23398 semapv:UnspecifiedMatching -OMIM:618275 hypotrichosis 14 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching -OMIM:618275 hypotrichosis 14 skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching -OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:24731 semapv:UnspecifiedMatching -OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:NHLRC2 semapv:UnspecifiedMatching -OMIM:618277 NHLRC2 skos:exactMatch ncbigene:374354 semapv:UnspecifiedMatching -OMIM:618281 VWA2 skos:exactMatch hgnc.symbol:24709 semapv:UnspecifiedMatching -OMIM:618281 VWA2 skos:exactMatch hgnc.symbol:VWA2 semapv:UnspecifiedMatching -OMIM:618281 VWA2 skos:exactMatch ncbigene:340706 semapv:UnspecifiedMatching -OMIM:618285 developmental and epileptic encephalopathy 69 skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching -OMIM:618288 HMCES skos:exactMatch hgnc.symbol:24446 semapv:UnspecifiedMatching -OMIM:618288 HMCES skos:exactMatch hgnc.symbol:HMCES semapv:UnspecifiedMatching -OMIM:618288 HMCES skos:exactMatch ncbigene:56941 semapv:UnspecifiedMatching -OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:10667 semapv:UnspecifiedMatching -OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:ENTR1 semapv:UnspecifiedMatching -OMIM:618289 ENTR1 skos:exactMatch ncbigene:10807 semapv:UnspecifiedMatching -OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:26960 semapv:UnspecifiedMatching -OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:WDR90 semapv:UnspecifiedMatching -OMIM:618290 WDR90 skos:exactMatch ncbigene:197335 semapv:UnspecifiedMatching -OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch UMLS:C4749003 semapv:UnspecifiedMatching -OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching -OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:40022 semapv:UnspecifiedMatching -OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:IFITM10 semapv:UnspecifiedMatching -OMIM:618293 IFITM10 skos:exactMatch ncbigene:402778 semapv:UnspecifiedMatching -OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:32393 semapv:UnspecifiedMatching -OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:TMEM91 semapv:UnspecifiedMatching -OMIM:618294 TMEM91 skos:exactMatch ncbigene:641649 semapv:UnspecifiedMatching -OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:37219 semapv:UnspecifiedMatching -OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:TMEM233 semapv:UnspecifiedMatching -OMIM:618296 TMEM233 skos:exactMatch ncbigene:387890 semapv:UnspecifiedMatching -OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:13943 semapv:UnspecifiedMatching -OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:PRRT1 semapv:UnspecifiedMatching -OMIM:618297 PRRT1 skos:exactMatch ncbigene:80863 semapv:UnspecifiedMatching -OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching -OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching -OMIM:618299 LRP12 skos:exactMatch hgnc.symbol:31708 semapv:UnspecifiedMatching -OMIM:618299 LRP12 skos:exactMatch hgnc.symbol:LRP12 semapv:UnspecifiedMatching -OMIM:618299 LRP12 skos:exactMatch ncbigene:29967 semapv:UnspecifiedMatching -OMIM:618301 KAZN skos:exactMatch hgnc.symbol:29173 semapv:UnspecifiedMatching -OMIM:618301 KAZN skos:exactMatch hgnc.symbol:KAZN semapv:UnspecifiedMatching -OMIM:618301 KAZN skos:exactMatch ncbigene:23254 semapv:UnspecifiedMatching -OMIM:618303 CAVIN3 skos:exactMatch hgnc.symbol:9400 semapv:UnspecifiedMatching -OMIM:618303 CAVIN3 skos:exactMatch hgnc.symbol:CAVIN3 semapv:UnspecifiedMatching -OMIM:618303 CAVIN3 skos:exactMatch ncbigene:112464 semapv:UnspecifiedMatching -OMIM:618304 QRICH2 skos:exactMatch UMLS:C1826749 semapv:UnspecifiedMatching -OMIM:618304 QRICH2 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching -OMIM:618304 QRICH2 skos:exactMatch hgnc.symbol:25326 semapv:UnspecifiedMatching -OMIM:618304 QRICH2 skos:exactMatch hgnc.symbol:QRICH2 semapv:UnspecifiedMatching -OMIM:618304 QRICH2 skos:exactMatch ncbigene:84074 semapv:UnspecifiedMatching -OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc.symbol:28262 semapv:UnspecifiedMatching -OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc.symbol:ATP1A1-AS1 semapv:UnspecifiedMatching -OMIM:618305 ATP1A1AS1 skos:exactMatch ncbigene:84852 semapv:UnspecifiedMatching -OMIM:618306 PRR7 skos:exactMatch hgnc.symbol:28130 semapv:UnspecifiedMatching -OMIM:618306 PRR7 skos:exactMatch hgnc.symbol:PRR7 semapv:UnspecifiedMatching -OMIM:618306 PRR7 skos:exactMatch ncbigene:80758 semapv:UnspecifiedMatching -OMIM:618308 NOP9 skos:exactMatch hgnc.symbol:19826 semapv:UnspecifiedMatching -OMIM:618308 NOP9 skos:exactMatch hgnc.symbol:NOP9 semapv:UnspecifiedMatching -OMIM:618308 NOP9 skos:exactMatch ncbigene:161424 semapv:UnspecifiedMatching -OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch UMLS:C5193020 semapv:UnspecifiedMatching -OMIM:618311 RRS1 skos:exactMatch hgnc.symbol:17083 semapv:UnspecifiedMatching -OMIM:618311 RRS1 skos:exactMatch hgnc.symbol:RRS1 semapv:UnspecifiedMatching -OMIM:618311 RRS1 skos:exactMatch ncbigene:23212 semapv:UnspecifiedMatching -OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch UMLS:C5193021 semapv:UnspecifiedMatching -OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching -OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch UMLS:C5193022 semapv:UnspecifiedMatching -OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:10344 semapv:UnspecifiedMatching -OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:RPL35 semapv:UnspecifiedMatching -OMIM:618315 RPL35 skos:exactMatch ncbigene:11224 semapv:UnspecifiedMatching -OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:28078 semapv:UnspecifiedMatching -OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:CFAP119 semapv:UnspecifiedMatching -OMIM:618318 CFAP119 skos:exactMatch ncbigene:90835 semapv:UnspecifiedMatching -OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:13995 semapv:UnspecifiedMatching -OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:PRDM10 semapv:UnspecifiedMatching -OMIM:618319 PRDM10 skos:exactMatch ncbigene:56980 semapv:UnspecifiedMatching -OMIM:618320 PLA2G2E skos:exactMatch UMLS:C1421980 semapv:UnspecifiedMatching -OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:13414 semapv:UnspecifiedMatching -OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:PLA2G2E semapv:UnspecifiedMatching -OMIM:618320 PLA2G2E skos:exactMatch ncbigene:30814 semapv:UnspecifiedMatching -OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch Orphanet:555402 semapv:UnspecifiedMatching -OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching -OMIM:618322 USP38 skos:exactMatch hgnc.symbol:20067 semapv:UnspecifiedMatching -OMIM:618322 USP38 skos:exactMatch hgnc.symbol:USP38 semapv:UnspecifiedMatching -OMIM:618322 USP38 skos:exactMatch ncbigene:84640 semapv:UnspecifiedMatching -OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:16230 semapv:UnspecifiedMatching -OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:ZCCHC3 semapv:UnspecifiedMatching -OMIM:618326 ZCCHC3 skos:exactMatch ncbigene:85364 semapv:UnspecifiedMatching -OMIM:618327 CRACD skos:exactMatch hgnc.symbol:29219 semapv:UnspecifiedMatching -OMIM:618327 CRACD skos:exactMatch hgnc.symbol:CRACD semapv:UnspecifiedMatching -OMIM:618327 CRACD skos:exactMatch ncbigene:57482 semapv:UnspecifiedMatching -OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch Orphanet:557064 semapv:UnspecifiedMatching -OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching -OMIM:618332 menke-hennekam syndrome 1 skos:exactMatch UMLS:C5193034 semapv:UnspecifiedMatching -OMIM:618333 menke-hennekam syndrome 2 skos:exactMatch UMLS:C5193035 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch UMLS:C1824454 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:28672 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:CYBC1 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch ncbigene:79415 semapv:UnspecifiedMatching -OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:48671 semapv:UnspecifiedMatching -OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:LINC00958 semapv:UnspecifiedMatching -OMIM:618335 LINC00958 skos:exactMatch ncbigene:100506305 semapv:UnspecifiedMatching -OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:25462 semapv:UnspecifiedMatching -OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:FRMD8 semapv:UnspecifiedMatching -OMIM:618337 FRMD8 skos:exactMatch ncbigene:83786 semapv:UnspecifiedMatching -OMIM:618338 TMT1A skos:exactMatch hgnc.symbol:TMT1A semapv:UnspecifiedMatching -OMIM:618338 TMT1A skos:exactMatch ncbigene:25840 semapv:UnspecifiedMatching -OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching -OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:19216 semapv:UnspecifiedMatching -OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:SMR3A semapv:UnspecifiedMatching -OMIM:618340 SMR3A skos:exactMatch ncbigene:26952 semapv:UnspecifiedMatching -OMIM:618341 spermatogenic failure 35 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching -OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:22310 semapv:UnspecifiedMatching -OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:PRR15 semapv:UnspecifiedMatching -OMIM:618344 PRR15 skos:exactMatch ncbigene:222171 semapv:UnspecifiedMatching -OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:25604 semapv:UnspecifiedMatching -OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:TRAPPC14 semapv:UnspecifiedMatching -OMIM:618350 MAP11 skos:exactMatch ncbigene:55262 semapv:UnspecifiedMatching -OMIM:618355 ALG10 skos:exactMatch UMLS:C4760639 semapv:UnspecifiedMatching -OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:23162 semapv:UnspecifiedMatching -OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:ALG10 semapv:UnspecifiedMatching -OMIM:618355 ALG10 skos:exactMatch ncbigene:84920 semapv:UnspecifiedMatching -OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching -OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:12988 semapv:UnspecifiedMatching -OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:ZNF197 semapv:UnspecifiedMatching -OMIM:618359 ZNF197 skos:exactMatch ncbigene:10168 semapv:UnspecifiedMatching -OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:21480 semapv:UnspecifiedMatching -OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:DUSP23 semapv:UnspecifiedMatching -OMIM:618361 DUSP23 skos:exactMatch ncbigene:54935 semapv:UnspecifiedMatching -OMIM:618364 myoclonus, familial, 2 skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching -OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:12997 semapv:UnspecifiedMatching -OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:ZSCAN10 semapv:UnspecifiedMatching -OMIM:618365 ZSCAN10 skos:exactMatch ncbigene:84891 semapv:UnspecifiedMatching -OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:29122 semapv:UnspecifiedMatching -OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:VPS8 semapv:UnspecifiedMatching -OMIM:618366 VPS8 skos:exactMatch ncbigene:23355 semapv:UnspecifiedMatching -OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:28161 semapv:UnspecifiedMatching -OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:DUSP26 semapv:UnspecifiedMatching -OMIM:618368 DUSP26 skos:exactMatch ncbigene:78986 semapv:UnspecifiedMatching -OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:31983 semapv:UnspecifiedMatching -OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:NEXN-AS1 semapv:UnspecifiedMatching -OMIM:618370 NEXNAS1 skos:exactMatch ncbigene:374987 semapv:UnspecifiedMatching -OMIM:618374 developmental and epileptic encephalopathy 72 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching -OMIM:618375 FAAHP1 skos:exactMatch hgnc.symbol:50679 semapv:UnspecifiedMatching -OMIM:618375 FAAHP1 skos:exactMatch hgnc.symbol:FAAHP1 semapv:UnspecifiedMatching -OMIM:618375 FAAHP1 skos:exactMatch ncbigene:729041 semapv:UnspecifiedMatching -OMIM:618376 PRSS23 skos:exactMatch hgnc.symbol:14370 semapv:UnspecifiedMatching -OMIM:618376 PRSS23 skos:exactMatch hgnc.symbol:PRSS23 semapv:UnspecifiedMatching -OMIM:618376 PRSS23 skos:exactMatch ncbigene:11098 semapv:UnspecifiedMatching -OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch Orphanet:544503 semapv:UnspecifiedMatching -OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching -OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:16122 semapv:UnspecifiedMatching -OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:FAM83D semapv:UnspecifiedMatching -OMIM:618380 FAM83D skos:exactMatch ncbigene:81610 semapv:UnspecifiedMatching -OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:26235 semapv:UnspecifiedMatching -OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:CIAO2A semapv:UnspecifiedMatching -OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching -OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching -OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:20039 semapv:UnspecifiedMatching -OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:CAP2 semapv:UnspecifiedMatching -OMIM:618385 CAP2 skos:exactMatch ncbigene:10486 semapv:UnspecifiedMatching -OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching -OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch UMLS:C4760576 semapv:UnspecifiedMatching -OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching -OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching -OMIM:618390 BRINP3 skos:exactMatch hgnc.symbol:22393 semapv:UnspecifiedMatching -OMIM:618390 BRINP3 skos:exactMatch hgnc.symbol:BRINP3 semapv:UnspecifiedMatching -OMIM:618390 BRINP3 skos:exactMatch ncbigene:339479 semapv:UnspecifiedMatching -OMIM:618391 DPH6 skos:exactMatch hgnc.symbol:30543 semapv:UnspecifiedMatching -OMIM:618391 DPH6 skos:exactMatch hgnc.symbol:DPH6 semapv:UnspecifiedMatching -OMIM:618391 DPH6 skos:exactMatch ncbigene:89978 semapv:UnspecifiedMatching -OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching -OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch Orphanet:565624 semapv:UnspecifiedMatching -OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch UMLS:C5193075 semapv:UnspecifiedMatching -OMIM:618399 GLT8D1 skos:exactMatch UMLS:C1539576 semapv:UnspecifiedMatching -OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:24870 semapv:UnspecifiedMatching -OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:GLT8D1 semapv:UnspecifiedMatching -OMIM:618399 GLT8D1 skos:exactMatch ncbigene:55830 semapv:UnspecifiedMatching -OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:27963 semapv:UnspecifiedMatching -OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:FAM170A semapv:UnspecifiedMatching -OMIM:618401 FAM170A skos:exactMatch ncbigene:340069 semapv:UnspecifiedMatching -OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching -OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch UMLS:C5193077 semapv:UnspecifiedMatching -OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:26224 semapv:UnspecifiedMatching -OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:FAM124B semapv:UnspecifiedMatching -OMIM:618403 FAM124B skos:exactMatch ncbigene:79843 semapv:UnspecifiedMatching -OMIM:618404 leukodystrophy, hypomyelinating, 18 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching -OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:29448 semapv:UnspecifiedMatching -OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:ZNF717 semapv:UnspecifiedMatching -OMIM:618405 ZNF717 skos:exactMatch ncbigene:100131827 semapv:UnspecifiedMatching -OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch Orphanet:71529 semapv:UnspecifiedMatching -OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4054546 semapv:UnspecifiedMatching -OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4759928 semapv:UnspecifiedMatching -OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:25648 semapv:UnspecifiedMatching -OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:MINDY1 semapv:UnspecifiedMatching -OMIM:618407 MINDY1 skos:exactMatch ncbigene:55793 semapv:UnspecifiedMatching -OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:26954 semapv:UnspecifiedMatching -OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:MINDY2 semapv:UnspecifiedMatching -OMIM:618408 MINDY2 skos:exactMatch ncbigene:54629 semapv:UnspecifiedMatching -OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:16372 semapv:UnspecifiedMatching -OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:FAM8A1 semapv:UnspecifiedMatching -OMIM:618409 FAM8A1 skos:exactMatch ncbigene:51439 semapv:UnspecifiedMatching -OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:17136 semapv:UnspecifiedMatching -OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:FTSJ3 semapv:UnspecifiedMatching -OMIM:618411 FTSJ3 skos:exactMatch ncbigene:117246 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch UMLS:C2239438 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:29162 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:FAM149B1 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch ncbigene:317662 semapv:UnspecifiedMatching -OMIM:618417 MEI4 skos:exactMatch UMLS:C3544029 semapv:UnspecifiedMatching -OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:43638 semapv:UnspecifiedMatching -OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:MEI4 semapv:UnspecifiedMatching -OMIM:618417 MEI4 skos:exactMatch ncbigene:101928601 semapv:UnspecifiedMatching -OMIM:618421 REC114 skos:exactMatch hgnc.symbol:25065 semapv:UnspecifiedMatching -OMIM:618421 REC114 skos:exactMatch hgnc.symbol:REC114 semapv:UnspecifiedMatching -OMIM:618421 REC114 skos:exactMatch ncbigene:283677 semapv:UnspecifiedMatching -OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching -OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch UMLS:C5193087 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch UMLS:C1538289 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:26853 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:ANKRD31 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch ncbigene:256006 semapv:UnspecifiedMatching -OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:23045 semapv:UnspecifiedMatching -OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:ARMC2 semapv:UnspecifiedMatching -OMIM:618424 ARMC2 skos:exactMatch ncbigene:84071 semapv:UnspecifiedMatching -OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:25593 semapv:UnspecifiedMatching -OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:PACC1 semapv:UnspecifiedMatching -OMIM:618427 PACC1 skos:exactMatch ncbigene:55248 semapv:UnspecifiedMatching -OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch Orphanet:254688 semapv:UnspecifiedMatching -OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch UMLS:C5193094 semapv:UnspecifiedMatching -OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching -OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch UMLS:C5193096 semapv:UnspecifiedMatching -OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching -OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1147 semapv:UnspecifiedMatching -OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch UMLS:C5193097 semapv:UnspecifiedMatching -OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching -OMIM:618439 USP45 skos:exactMatch hgnc.symbol:20080 semapv:UnspecifiedMatching -OMIM:618439 USP45 skos:exactMatch hgnc.symbol:USP45 semapv:UnspecifiedMatching -OMIM:618439 USP45 skos:exactMatch ncbigene:85015 semapv:UnspecifiedMatching -OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:13728 semapv:UnspecifiedMatching -OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:ADGRG3 semapv:UnspecifiedMatching -OMIM:618441 ADGRG3 skos:exactMatch ncbigene:222487 semapv:UnspecifiedMatching -OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:22394 semapv:UnspecifiedMatching -OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:KCTD8 semapv:UnspecifiedMatching -OMIM:618442 KCTD8 skos:exactMatch ncbigene:386617 semapv:UnspecifiedMatching -OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:23633 semapv:UnspecifiedMatching -OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:PLGRKT semapv:UnspecifiedMatching -OMIM:618444 PLGRKT skos:exactMatch ncbigene:55848 semapv:UnspecifiedMatching -OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:33885 semapv:UnspecifiedMatching -OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:GHRLOS semapv:UnspecifiedMatching -OMIM:618445 GHRLOS skos:exactMatch ncbigene:100126793 semapv:UnspecifiedMatching -OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:4450 semapv:UnspecifiedMatching -OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:GPC2 semapv:UnspecifiedMatching -OMIM:618446 GPC2 skos:exactMatch ncbigene:221914 semapv:UnspecifiedMatching -OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:19995 semapv:UnspecifiedMatching -OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:GPR139 semapv:UnspecifiedMatching -OMIM:618448 GPR139 skos:exactMatch ncbigene:124274 semapv:UnspecifiedMatching -OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:19364 semapv:UnspecifiedMatching -OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:RTKN2 semapv:UnspecifiedMatching -OMIM:618450 RTKN2 skos:exactMatch ncbigene:219790 semapv:UnspecifiedMatching -OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:19236 semapv:UnspecifiedMatching -OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:PLEKHB2 semapv:UnspecifiedMatching -OMIM:618452 PLEKHB2 skos:exactMatch ncbigene:55041 semapv:UnspecifiedMatching -OMIM:618454 developmental delay with or without dysmorphic facies and autism skos:exactMatch UMLS:C5193106 semapv:UnspecifiedMatching -OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:30477 semapv:UnspecifiedMatching -OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:HEPHL1 semapv:UnspecifiedMatching -OMIM:618455 HEPHL1 skos:exactMatch ncbigene:341208 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C4320593 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:33551 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:NDUFAF8 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch ncbigene:284184 semapv:UnspecifiedMatching -OMIM:618465 BRD9 skos:exactMatch UMLS:C1428523 semapv:UnspecifiedMatching -OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:25818 semapv:UnspecifiedMatching -OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:BRD9 semapv:UnspecifiedMatching -OMIM:618465 BRD9 skos:exactMatch ncbigene:65980 semapv:UnspecifiedMatching -OMIM:618466 BRIX1 skos:exactMatch UMLS:C1538972 semapv:UnspecifiedMatching -OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:24170 semapv:UnspecifiedMatching -OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:BRIX1 semapv:UnspecifiedMatching -OMIM:618466 BRIX1 skos:exactMatch ncbigene:55299 semapv:UnspecifiedMatching -OMIM:618467 SLF1 skos:exactMatch hgnc.symbol:25408 semapv:UnspecifiedMatching -OMIM:618467 SLF1 skos:exactMatch hgnc.symbol:SLF1 semapv:UnspecifiedMatching -OMIM:618467 SLF1 skos:exactMatch ncbigene:84250 semapv:UnspecifiedMatching -OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching -OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch Orphanet:2990 semapv:UnspecifiedMatching -OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching -OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching -OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:20870 semapv:UnspecifiedMatching -OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:RPF2 semapv:UnspecifiedMatching -OMIM:618471 RPF2 skos:exactMatch ncbigene:84154 semapv:UnspecifiedMatching -OMIM:618472 ASPG skos:exactMatch hgnc.symbol:20123 semapv:UnspecifiedMatching -OMIM:618472 ASPG skos:exactMatch hgnc.symbol:ASPG semapv:UnspecifiedMatching -OMIM:618472 ASPG skos:exactMatch ncbigene:374569 semapv:UnspecifiedMatching -OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:28147 semapv:UnspecifiedMatching -OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:EIF1AD semapv:UnspecifiedMatching -OMIM:618473 EIF1AD skos:exactMatch ncbigene:84285 semapv:UnspecifiedMatching -OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:30203 semapv:UnspecifiedMatching -OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:WDR83OS semapv:UnspecifiedMatching -OMIM:618474 WDR83OS skos:exactMatch ncbigene:51398 semapv:UnspecifiedMatching -OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:27295 semapv:UnspecifiedMatching -OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:FYB2 semapv:UnspecifiedMatching -OMIM:618478 FYB2 skos:exactMatch ncbigene:199920 semapv:UnspecifiedMatching -OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch UMLS:C5193118 semapv:UnspecifiedMatching -OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch UMLS:C5193119 semapv:UnspecifiedMatching -OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching -OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching -OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching -OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching -OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:6629 semapv:UnspecifiedMatching -OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:LLGL2 semapv:UnspecifiedMatching -OMIM:618483 LLGL2 skos:exactMatch ncbigene:3993 semapv:UnspecifiedMatching -OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching -OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching -OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:41493 semapv:UnspecifiedMatching -OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:ZBTB40-IT1 semapv:UnspecifiedMatching -OMIM:618485 ZBTB40IT1 skos:exactMatch ncbigene:100874345 semapv:UnspecifiedMatching -OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:26215 semapv:UnspecifiedMatching -OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:PLBD1 semapv:UnspecifiedMatching -OMIM:618486 PLBD1 skos:exactMatch ncbigene:79887 semapv:UnspecifiedMatching -OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:23624 semapv:UnspecifiedMatching -OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:GPR151 semapv:UnspecifiedMatching -OMIM:618487 GPR151 skos:exactMatch ncbigene:134391 semapv:UnspecifiedMatching -OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:23792 semapv:UnspecifiedMatching -OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:PLD4 semapv:UnspecifiedMatching -OMIM:618488 PLD4 skos:exactMatch ncbigene:122618 semapv:UnspecifiedMatching -OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:14310 semapv:UnspecifiedMatching -OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:BRD7 semapv:UnspecifiedMatching -OMIM:618489 BRD7 skos:exactMatch ncbigene:29117 semapv:UnspecifiedMatching -OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:17830 semapv:UnspecifiedMatching -OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:GPR107 semapv:UnspecifiedMatching -OMIM:618490 GPR107 skos:exactMatch ncbigene:57720 semapv:UnspecifiedMatching -OMIM:618491 GPR108 skos:exactMatch UMLS:C1425110 semapv:UnspecifiedMatching -OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:17829 semapv:UnspecifiedMatching -OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:GPR108 semapv:UnspecifiedMatching -OMIM:618491 GPR108 skos:exactMatch ncbigene:56927 semapv:UnspecifiedMatching -OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch Orphanet:556955 semapv:UnspecifiedMatching -OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching -OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:21111 semapv:UnspecifiedMatching -OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:BICRAL semapv:UnspecifiedMatching -OMIM:618502 BICRAL skos:exactMatch ncbigene:23506 semapv:UnspecifiedMatching -OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:28496 semapv:UnspecifiedMatching -OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:POGLUT3 semapv:UnspecifiedMatching -OMIM:618503 POGLUT3 skos:exactMatch ncbigene:143888 semapv:UnspecifiedMatching -OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:53753 semapv:UnspecifiedMatching -OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:WAKMAR1 semapv:UnspecifiedMatching -OMIM:618507 WAKMAR1 skos:exactMatch ncbigene:105372576 semapv:UnspecifiedMatching -OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:53754 semapv:UnspecifiedMatching -OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:WAKMAR2 semapv:UnspecifiedMatching -OMIM:618508 WAKMAR2 skos:exactMatch ncbigene:100130476 semapv:UnspecifiedMatching -OMIM:618509 OR2M7 skos:exactMatch hgnc.symbol:19594 semapv:UnspecifiedMatching -OMIM:618509 OR2M7 skos:exactMatch hgnc.symbol:OR2M7 semapv:UnspecifiedMatching -OMIM:618509 OR2M7 skos:exactMatch ncbigene:391196 semapv:UnspecifiedMatching -OMIM:618510 DYTN skos:exactMatch hgnc.symbol:23279 semapv:UnspecifiedMatching -OMIM:618510 DYTN skos:exactMatch hgnc.symbol:DYTN semapv:UnspecifiedMatching -OMIM:618510 DYTN skos:exactMatch ncbigene:391475 semapv:UnspecifiedMatching -OMIM:618512 o'donnell-luria-rodan syndrome skos:exactMatch UMLS:C5193138 semapv:UnspecifiedMatching -OMIM:618514 BRMS1L skos:exactMatch hgnc.symbol:20512 semapv:UnspecifiedMatching -OMIM:618514 BRMS1L skos:exactMatch hgnc.symbol:BRMS1L semapv:UnspecifiedMatching -OMIM:618514 BRMS1L skos:exactMatch ncbigene:84312 semapv:UnspecifiedMatching -OMIM:618515 TMEM33 skos:exactMatch hgnc.symbol:25541 semapv:UnspecifiedMatching -OMIM:618515 TMEM33 skos:exactMatch hgnc.symbol:TMEM33 semapv:UnspecifiedMatching -OMIM:618515 TMEM33 skos:exactMatch ncbigene:55161 semapv:UnspecifiedMatching -OMIM:618516 OR14I1 skos:exactMatch hgnc.symbol:19575 semapv:UnspecifiedMatching -OMIM:618516 OR14I1 skos:exactMatch hgnc.symbol:OR14I1 semapv:UnspecifiedMatching -OMIM:618516 OR14I1 skos:exactMatch ncbigene:401994 semapv:UnspecifiedMatching -OMIM:618517 ANGPTL7 skos:exactMatch UMLS:C1538275 semapv:UnspecifiedMatching -OMIM:618517 ANGPTL7 skos:exactMatch hgnc.symbol:24078 semapv:UnspecifiedMatching -OMIM:618517 ANGPTL7 skos:exactMatch hgnc.symbol:ANGPTL7 semapv:UnspecifiedMatching -OMIM:618517 ANGPTL7 skos:exactMatch ncbigene:10218 semapv:UnspecifiedMatching -OMIM:618518 LINC00261 skos:exactMatch hgnc.symbol:16189 semapv:UnspecifiedMatching -OMIM:618518 LINC00261 skos:exactMatch hgnc.symbol:LINC00261 semapv:UnspecifiedMatching -OMIM:618518 LINC00261 skos:exactMatch ncbigene:140828 semapv:UnspecifiedMatching -OMIM:618519 C2ORF68 skos:exactMatch hgnc.symbol:34353 semapv:UnspecifiedMatching -OMIM:618519 C2ORF68 skos:exactMatch hgnc.symbol:C2orf68 semapv:UnspecifiedMatching -OMIM:618519 C2ORF68 skos:exactMatch ncbigene:388969 semapv:UnspecifiedMatching -OMIM:618520 EFCAB9 skos:exactMatch hgnc.symbol:34530 semapv:UnspecifiedMatching -OMIM:618520 EFCAB9 skos:exactMatch hgnc.symbol:EFCAB9 semapv:UnspecifiedMatching -OMIM:618520 EFCAB9 skos:exactMatch ncbigene:285588 semapv:UnspecifiedMatching -OMIM:618521 ARMC8 skos:exactMatch hgnc.symbol:24999 semapv:UnspecifiedMatching -OMIM:618521 ARMC8 skos:exactMatch hgnc.symbol:ARMC8 semapv:UnspecifiedMatching -OMIM:618521 ARMC8 skos:exactMatch ncbigene:25852 semapv:UnspecifiedMatching -OMIM:618522 intellectual developmental disorder, autosomal dominant 59 skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching -OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections skos:exactMatch UMLS:C5193141 semapv:UnspecifiedMatching -OMIM:618525 CCDC33 skos:exactMatch hgnc.symbol:26552 semapv:UnspecifiedMatching -OMIM:618525 CCDC33 skos:exactMatch hgnc.symbol:CCDC33 semapv:UnspecifiedMatching -OMIM:618525 CCDC33 skos:exactMatch ncbigene:80125 semapv:UnspecifiedMatching -OMIM:618526 PEAK3 skos:exactMatch hgnc.symbol:24793 semapv:UnspecifiedMatching -OMIM:618526 PEAK3 skos:exactMatch hgnc.symbol:PEAK3 semapv:UnspecifiedMatching -OMIM:618526 PEAK3 skos:exactMatch ncbigene:374872 semapv:UnspecifiedMatching -OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch UMLS:C5193147 semapv:UnspecifiedMatching -OMIM:618530 STKLD1 skos:exactMatch hgnc.symbol:28669 semapv:UnspecifiedMatching -OMIM:618530 STKLD1 skos:exactMatch hgnc.symbol:STKLD1 semapv:UnspecifiedMatching -OMIM:618530 STKLD1 skos:exactMatch ncbigene:169436 semapv:UnspecifiedMatching -OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:17731 semapv:UnspecifiedMatching -OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:CLASRP semapv:UnspecifiedMatching -OMIM:618532 CLASRP skos:exactMatch ncbigene:11129 semapv:UnspecifiedMatching -OMIM:618533 deafness, autosomal dominant 37 skos:exactMatch UMLS:C4760307 semapv:UnspecifiedMatching -OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching -OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch UMLS:C5231402 semapv:UnspecifiedMatching -OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:29938 semapv:UnspecifiedMatching -OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:CACTIN semapv:UnspecifiedMatching -OMIM:618536 CACTIN skos:exactMatch ncbigene:58509 semapv:UnspecifiedMatching -OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:30898 semapv:UnspecifiedMatching -OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:AVPI1 semapv:UnspecifiedMatching -OMIM:618537 AVPI1 skos:exactMatch ncbigene:60370 semapv:UnspecifiedMatching -OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:24546 semapv:UnspecifiedMatching -OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:CNRIP1 semapv:UnspecifiedMatching -OMIM:618538 CNRIP1 skos:exactMatch ncbigene:25927 semapv:UnspecifiedMatching -OMIM:618539 CHERP skos:exactMatch hgnc.symbol:16930 semapv:UnspecifiedMatching -OMIM:618539 CHERP skos:exactMatch hgnc.symbol:CHERP semapv:UnspecifiedMatching -OMIM:618539 CHERP skos:exactMatch ncbigene:10523 semapv:UnspecifiedMatching -OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:14272 semapv:UnspecifiedMatching -OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:CREG2 semapv:UnspecifiedMatching -OMIM:618540 CREG2 skos:exactMatch ncbigene:200407 semapv:UnspecifiedMatching -OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:18072 semapv:UnspecifiedMatching -OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:RABL3 semapv:UnspecifiedMatching -OMIM:618542 RABL3 skos:exactMatch ncbigene:285282 semapv:UnspecifiedMatching -OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:25247 semapv:UnspecifiedMatching -OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:CFAP46 semapv:UnspecifiedMatching -OMIM:618543 CFAP46 skos:exactMatch ncbigene:54777 semapv:UnspecifiedMatching -OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:20813 semapv:UnspecifiedMatching -OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:ZSCAN16 semapv:UnspecifiedMatching -OMIM:618544 ZSCAN16 skos:exactMatch ncbigene:80345 semapv:UnspecifiedMatching -OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:21060 semapv:UnspecifiedMatching -OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:GRPEL2 semapv:UnspecifiedMatching -OMIM:618545 GRPEL2 skos:exactMatch ncbigene:134266 semapv:UnspecifiedMatching -OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching -OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching -OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:29265 semapv:UnspecifiedMatching -OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:MAP10 semapv:UnspecifiedMatching -OMIM:618551 MAP10 skos:exactMatch ncbigene:54627 semapv:UnspecifiedMatching -OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:1367 semapv:UnspecifiedMatching -OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:SPACA9 semapv:UnspecifiedMatching -OMIM:618552 SPACA9 skos:exactMatch ncbigene:11092 semapv:UnspecifiedMatching -OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:54188 semapv:UnspecifiedMatching -OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:BMNCR semapv:UnspecifiedMatching -OMIM:618553 BMNCR skos:exactMatch ncbigene:107985249 semapv:UnspecifiedMatching -OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:13159 semapv:UnspecifiedMatching -OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:ZNF84 semapv:UnspecifiedMatching -OMIM:618554 ZNF84 skos:exactMatch ncbigene:7637 semapv:UnspecifiedMatching -OMIM:618556 ENHO skos:exactMatch hgnc.symbol:24838 semapv:UnspecifiedMatching -OMIM:618556 ENHO skos:exactMatch hgnc.symbol:ENHO semapv:UnspecifiedMatching -OMIM:618556 ENHO skos:exactMatch ncbigene:375704 semapv:UnspecifiedMatching -OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching -OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:13945 semapv:UnspecifiedMatching -OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:GPSM3 semapv:UnspecifiedMatching -OMIM:618558 GPSM3 skos:exactMatch ncbigene:63940 semapv:UnspecifiedMatching -OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching -OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:26315 semapv:UnspecifiedMatching -OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:B4GALNT4 semapv:UnspecifiedMatching -OMIM:618560 B4GALNT4 skos:exactMatch ncbigene:338707 semapv:UnspecifiedMatching -OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:26133 semapv:UnspecifiedMatching -OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:CWH43 semapv:UnspecifiedMatching -OMIM:618561 CWH43 skos:exactMatch ncbigene:80157 semapv:UnspecifiedMatching -OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:30712 semapv:UnspecifiedMatching -OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:TEX261 semapv:UnspecifiedMatching -OMIM:618562 TEX261 skos:exactMatch ncbigene:113419 semapv:UnspecifiedMatching -OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:22980 semapv:UnspecifiedMatching -OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:SLC10A4 semapv:UnspecifiedMatching -OMIM:618563 SLC10A4 skos:exactMatch ncbigene:201780 semapv:UnspecifiedMatching -OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:24893 semapv:UnspecifiedMatching -OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:H1-7 semapv:UnspecifiedMatching -OMIM:618565 H1-7 skos:exactMatch ncbigene:341567 semapv:UnspecifiedMatching -OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:14152 semapv:UnspecifiedMatching -OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:ANTKMT semapv:UnspecifiedMatching -OMIM:618566 ANTKMT skos:exactMatch ncbigene:65990 semapv:UnspecifiedMatching -OMIM:618567 mitochondrial DNA depletion syndrome 17 skos:exactMatch UMLS:C5231412 semapv:UnspecifiedMatching -OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:27029 semapv:UnspecifiedMatching -OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:ATPSCKMT semapv:UnspecifiedMatching -OMIM:618568 ATPSCKMT skos:exactMatch ncbigene:134145 semapv:UnspecifiedMatching -OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching -OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:32669 semapv:UnspecifiedMatching -OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:TRIM71 semapv:UnspecifiedMatching -OMIM:618570 TRIM71 skos:exactMatch ncbigene:131405 semapv:UnspecifiedMatching -OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching -OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:23481 semapv:UnspecifiedMatching -OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:DUSP29 semapv:UnspecifiedMatching -OMIM:618574 DUPD1 skos:exactMatch ncbigene:338599 semapv:UnspecifiedMatching -OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:54408 semapv:UnspecifiedMatching -OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:EMSLR semapv:UnspecifiedMatching -OMIM:618575 EMSLR skos:exactMatch ncbigene:101927746 semapv:UnspecifiedMatching -OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:30953 semapv:UnspecifiedMatching -OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:ZBTB10 semapv:UnspecifiedMatching -OMIM:618576 ZBTB10 skos:exactMatch ncbigene:65986 semapv:UnspecifiedMatching -OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch UMLS:C5231416 semapv:UnspecifiedMatching -OMIM:618579 DMAC2L skos:exactMatch hgnc.symbol:18799 semapv:UnspecifiedMatching -OMIM:618579 DMAC2L skos:exactMatch hgnc.symbol:DMAC2L semapv:UnspecifiedMatching -OMIM:618579 DMAC2L skos:exactMatch ncbigene:27109 semapv:UnspecifiedMatching -OMIM:618580 developmental and epileptic encephalopathy 80 skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching -OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:33736 semapv:UnspecifiedMatching -OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:ANKRD34B semapv:UnspecifiedMatching -OMIM:618581 ANKRD34B skos:exactMatch ncbigene:340120 semapv:UnspecifiedMatching -OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:22981 semapv:UnspecifiedMatching -OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:SLC10A5 semapv:UnspecifiedMatching -OMIM:618582 SLC10A5 skos:exactMatch ncbigene:347051 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch UMLS:C1425209 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:17971 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:MTRES1 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch ncbigene:51250 semapv:UnspecifiedMatching -OMIM:618584 NME9 skos:exactMatch hgnc.symbol:21343 semapv:UnspecifiedMatching -OMIM:618584 NME9 skos:exactMatch hgnc.symbol:NME9 semapv:UnspecifiedMatching -OMIM:618584 NME9 skos:exactMatch ncbigene:347736 semapv:UnspecifiedMatching -OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:25714 semapv:UnspecifiedMatching -OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:CCDC51 semapv:UnspecifiedMatching -OMIM:618585 CCDC51 skos:exactMatch ncbigene:79714 semapv:UnspecifiedMatching -OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:31406 semapv:UnspecifiedMatching -OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:WDR37 semapv:UnspecifiedMatching -OMIM:618586 WDR37 skos:exactMatch ncbigene:22884 semapv:UnspecifiedMatching -OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching -OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching -OMIM:618588 PDILT skos:exactMatch hgnc.symbol:27338 semapv:UnspecifiedMatching -OMIM:618588 PDILT skos:exactMatch hgnc.symbol:PDILT semapv:UnspecifiedMatching -OMIM:618588 PDILT skos:exactMatch ncbigene:204474 semapv:UnspecifiedMatching -OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:24588 semapv:UnspecifiedMatching -OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:GKN2 semapv:UnspecifiedMatching -OMIM:618589 GKN2 skos:exactMatch ncbigene:200504 semapv:UnspecifiedMatching -OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching -OMIM:618591 short sleep, familial natural, 2 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching -OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:21487 semapv:UnspecifiedMatching -OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:RNF217 semapv:UnspecifiedMatching -OMIM:618592 RNF217 skos:exactMatch ncbigene:154214 semapv:UnspecifiedMatching -OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:18373 semapv:UnspecifiedMatching -OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:ZNF398 semapv:UnspecifiedMatching -OMIM:618593 ZNF398 skos:exactMatch ncbigene:57541 semapv:UnspecifiedMatching -OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:16991 semapv:UnspecifiedMatching -OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:CKAP4 semapv:UnspecifiedMatching -OMIM:618595 CKAP4 skos:exactMatch ncbigene:10970 semapv:UnspecifiedMatching -OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching -OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:24163 semapv:UnspecifiedMatching -OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:BEGAIN semapv:UnspecifiedMatching -OMIM:618597 BEGAIN skos:exactMatch ncbigene:57596 semapv:UnspecifiedMatching -OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:14265 semapv:UnspecifiedMatching -OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:CDH24 semapv:UnspecifiedMatching -OMIM:618599 CDH24 skos:exactMatch ncbigene:64403 semapv:UnspecifiedMatching -OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:30710 semapv:UnspecifiedMatching -OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:CABS1 semapv:UnspecifiedMatching -OMIM:618600 CABS1 skos:exactMatch ncbigene:85438 semapv:UnspecifiedMatching -OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:26115 semapv:UnspecifiedMatching -OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:EXO5 semapv:UnspecifiedMatching -OMIM:618601 EXO5 skos:exactMatch ncbigene:64789 semapv:UnspecifiedMatching -OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:15479 semapv:UnspecifiedMatching -OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:ADAM32 semapv:UnspecifiedMatching -OMIM:618602 ADAM32 skos:exactMatch ncbigene:203102 semapv:UnspecifiedMatching -OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:20096 semapv:UnspecifiedMatching -OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:ANKRD9 semapv:UnspecifiedMatching -OMIM:618605 ANKRD9 skos:exactMatch ncbigene:122416 semapv:UnspecifiedMatching -OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:24785 semapv:UnspecifiedMatching -OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:YJEFN3 semapv:UnspecifiedMatching -OMIM:618607 YJEFN3 skos:exactMatch ncbigene:374887 semapv:UnspecifiedMatching -OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching -OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:24923 semapv:UnspecifiedMatching -OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:HEMK1 semapv:UnspecifiedMatching -OMIM:618609 HEMK1 skos:exactMatch ncbigene:51409 semapv:UnspecifiedMatching -OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:26137 semapv:UnspecifiedMatching -OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:HMBOX1 semapv:UnspecifiedMatching -OMIM:618610 HMBOX1 skos:exactMatch ncbigene:79618 semapv:UnspecifiedMatching -OMIM:618611 HROB skos:exactMatch hgnc.symbol:28460 semapv:UnspecifiedMatching -OMIM:618611 HROB skos:exactMatch hgnc.symbol:HROB semapv:UnspecifiedMatching -OMIM:618611 HROB skos:exactMatch ncbigene:78995 semapv:UnspecifiedMatching -OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:30720 semapv:UnspecifiedMatching -OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:CBY2 semapv:UnspecifiedMatching -OMIM:618614 CBY2 skos:exactMatch ncbigene:220082 semapv:UnspecifiedMatching -OMIM:618615 HEIH skos:exactMatch hgnc.symbol:45049 semapv:UnspecifiedMatching -OMIM:618615 HEIH skos:exactMatch hgnc.symbol:HEIH semapv:UnspecifiedMatching -OMIM:618615 HEIH skos:exactMatch ncbigene:100859930 semapv:UnspecifiedMatching -OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:24667 semapv:UnspecifiedMatching -OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:MAPK15 semapv:UnspecifiedMatching -OMIM:618616 MAPK15 skos:exactMatch ncbigene:225689 semapv:UnspecifiedMatching -OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:21688 semapv:UnspecifiedMatching -OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:ZNHIT1 semapv:UnspecifiedMatching -OMIM:618617 ZNHIT1 skos:exactMatch ncbigene:10467 semapv:UnspecifiedMatching -OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:18469 semapv:UnspecifiedMatching -OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:ZDHHC2 semapv:UnspecifiedMatching -OMIM:618621 ZDHHC2 skos:exactMatch ncbigene:51201 semapv:UnspecifiedMatching -OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:29527 semapv:UnspecifiedMatching -OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:HIGD1A semapv:UnspecifiedMatching -OMIM:618623 HIGD1A skos:exactMatch ncbigene:25994 semapv:UnspecifiedMatching -OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch Orphanet:221008 semapv:UnspecifiedMatching -OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching -OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C5231433 semapv:UnspecifiedMatching -OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:16200 semapv:UnspecifiedMatching -OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:PCIF1 semapv:UnspecifiedMatching -OMIM:618626 PCIF1 skos:exactMatch ncbigene:63935 semapv:UnspecifiedMatching -OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:23843 semapv:UnspecifiedMatching -OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:GMCL1 semapv:UnspecifiedMatching -OMIM:618627 GMCL1 skos:exactMatch ncbigene:64395 semapv:UnspecifiedMatching -OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:25006 semapv:UnspecifiedMatching -OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:METTL5 semapv:UnspecifiedMatching -OMIM:618628 METTL5 skos:exactMatch ncbigene:29081 semapv:UnspecifiedMatching -OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:19717 semapv:UnspecifiedMatching -OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:GMCL2 semapv:UnspecifiedMatching -OMIM:618629 GMCL2 skos:exactMatch ncbigene:64396 semapv:UnspecifiedMatching -OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:26940 semapv:UnspecifiedMatching -OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:TRMT112 semapv:UnspecifiedMatching -OMIM:618630 TRMT112 skos:exactMatch ncbigene:51504 semapv:UnspecifiedMatching -OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:20186 semapv:UnspecifiedMatching -OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:NRDE2 semapv:UnspecifiedMatching -OMIM:618631 NRDE2 skos:exactMatch ncbigene:55051 semapv:UnspecifiedMatching -OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:11039 semapv:UnspecifiedMatching -OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:SLC5A4 semapv:UnspecifiedMatching -OMIM:618633 SLC5A4 skos:exactMatch ncbigene:6527 semapv:UnspecifiedMatching -OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:17567 semapv:UnspecifiedMatching -OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:DLEU7 semapv:UnspecifiedMatching -OMIM:618634 DLEU7 skos:exactMatch ncbigene:220107 semapv:UnspecifiedMatching -OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:23155 semapv:UnspecifiedMatching -OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:SLC5A10 semapv:UnspecifiedMatching -OMIM:618636 SLC5A10 skos:exactMatch ncbigene:125206 semapv:UnspecifiedMatching -OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching -OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:26117 semapv:UnspecifiedMatching -OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:HECTD3 semapv:UnspecifiedMatching -OMIM:618638 HECTD3 skos:exactMatch ncbigene:79654 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C3890651 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:51204 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:NUTM2B-AS1 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch ncbigene:101060691 semapv:UnspecifiedMatching -OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:28972 semapv:UnspecifiedMatching -OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:ZC3H3 semapv:UnspecifiedMatching -OMIM:618640 ZC3H3 skos:exactMatch ncbigene:23144 semapv:UnspecifiedMatching -OMIM:618642 SH3RF1 skos:exactMatch UMLS:C1822713 semapv:UnspecifiedMatching -OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:17650 semapv:UnspecifiedMatching -OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:SH3RF1 semapv:UnspecifiedMatching -OMIM:618642 SH3RF1 skos:exactMatch ncbigene:57630 semapv:UnspecifiedMatching -OMIM:618644 osteogenesis imperfecta, iia 20 skos:exactMatch UMLS:C5231439 semapv:UnspecifiedMatching -OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:20816 semapv:UnspecifiedMatching -OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:PHF12 semapv:UnspecifiedMatching -OMIM:618645 PHF12 skos:exactMatch ncbigene:57649 semapv:UnspecifiedMatching -OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:14325 semapv:UnspecifiedMatching -OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:C1QTNF2 semapv:UnspecifiedMatching -OMIM:618647 C1QTNF2 skos:exactMatch ncbigene:114898 semapv:UnspecifiedMatching -OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:20157 semapv:UnspecifiedMatching -OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:HECTD1 semapv:UnspecifiedMatching -OMIM:618649 HECTD1 skos:exactMatch ncbigene:25831 semapv:UnspecifiedMatching -OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:26961 semapv:UnspecifiedMatching -OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:RNF169 semapv:UnspecifiedMatching -OMIM:618650 RNF169 skos:exactMatch ncbigene:254225 semapv:UnspecifiedMatching -OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching -OMIM:618654 congenital myopathy 8 skos:exactMatch UMLS:C5231445 semapv:UnspecifiedMatching -OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:52293 semapv:UnspecifiedMatching -OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:PERCC1 semapv:UnspecifiedMatching -OMIM:618656 PERCC1 skos:exactMatch ncbigene:105371045 semapv:UnspecifiedMatching -OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:24320 semapv:UnspecifiedMatching -OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:LARP4 semapv:UnspecifiedMatching -OMIM:618657 LARP4 skos:exactMatch ncbigene:113251 semapv:UnspecifiedMatching -OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch Orphanet:3473 semapv:UnspecifiedMatching -OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch UMLS:C5231447 semapv:UnspecifiedMatching -OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching -OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:30726 semapv:UnspecifiedMatching -OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:CFAP70 semapv:UnspecifiedMatching -OMIM:618661 CFAP70 skos:exactMatch ncbigene:118491 semapv:UnspecifiedMatching -OMIM:618663 developmental and epileptic encephalopathy 81 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching -OMIM:618664 spermatogenic failure 40 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching -OMIM:618664 spermatogenic failure 40 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching -OMIM:618666 sitosterolemia 2 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching -OMIM:618666 sitosterolemia 2 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching -OMIM:618668 GABRR3 skos:exactMatch hgnc.symbol:17969 semapv:UnspecifiedMatching -OMIM:618668 GABRR3 skos:exactMatch hgnc.symbol:GABRR3 semapv:UnspecifiedMatching -OMIM:618668 GABRR3 skos:exactMatch ncbigene:200959 semapv:UnspecifiedMatching -OMIM:618669 YTHDF3 skos:exactMatch UMLS:C1538136 semapv:UnspecifiedMatching -OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:26465 semapv:UnspecifiedMatching -OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:YTHDF3 semapv:UnspecifiedMatching -OMIM:618669 YTHDF3 skos:exactMatch ncbigene:253943 semapv:UnspecifiedMatching -OMIM:618671 ZDHHC19 skos:exactMatch UMLS:C1427090 semapv:UnspecifiedMatching -OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:20713 semapv:UnspecifiedMatching -OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:ZDHHC19 semapv:UnspecifiedMatching -OMIM:618671 ZDHHC19 skos:exactMatch ncbigene:131540 semapv:UnspecifiedMatching -OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching -OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:25820 semapv:UnspecifiedMatching -OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:ZYG11B semapv:UnspecifiedMatching -OMIM:618673 ZYG11B skos:exactMatch ncbigene:79699 semapv:UnspecifiedMatching -OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:32058 semapv:UnspecifiedMatching -OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:ZYG11A semapv:UnspecifiedMatching -OMIM:618675 ZYG11A skos:exactMatch ncbigene:440590 semapv:UnspecifiedMatching -OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:17908 semapv:UnspecifiedMatching -OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:ZBTB43 semapv:UnspecifiedMatching -OMIM:618676 ZBTB43 skos:exactMatch ncbigene:23099 semapv:UnspecifiedMatching -OMIM:618678 CES5A skos:exactMatch hgnc.symbol:26459 semapv:UnspecifiedMatching -OMIM:618678 CES5A skos:exactMatch hgnc.symbol:CES5A semapv:UnspecifiedMatching -OMIM:618678 CES5A skos:exactMatch ncbigene:221223 semapv:UnspecifiedMatching -OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:13821 semapv:UnspecifiedMatching -OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:GFRA4 semapv:UnspecifiedMatching -OMIM:618679 GFRA4 skos:exactMatch ncbigene:64096 semapv:UnspecifiedMatching -OMIM:618680 pancreatic cancer, susceptibility to, 5 skos:exactMatch UMLS:C5231459 semapv:UnspecifiedMatching -OMIM:618682 CFAP276 skos:exactMatch UMLS:C1823808 semapv:UnspecifiedMatching -OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:32331 semapv:UnspecifiedMatching -OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:CFAP276 semapv:UnspecifiedMatching -OMIM:618682 CFAP276 skos:exactMatch ncbigene:127003 semapv:UnspecifiedMatching -OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:29118 semapv:UnspecifiedMatching -OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:TMEM63A semapv:UnspecifiedMatching -OMIM:618685 TMEM63A skos:exactMatch ncbigene:9725 semapv:UnspecifiedMatching -OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:26554 semapv:UnspecifiedMatching -OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:TEKT5 semapv:UnspecifiedMatching -OMIM:618686 TEKT5 skos:exactMatch ncbigene:146279 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch UMLS:C1422545 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:14288 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:NTNG2 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch ncbigene:84628 semapv:UnspecifiedMatching -OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:17203 semapv:UnspecifiedMatching -OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:PSORS1C3 semapv:UnspecifiedMatching -OMIM:618690 PSORS1C3 skos:exactMatch ncbigene:100130889 semapv:UnspecifiedMatching -OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:26763 semapv:UnspecifiedMatching -OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:TMEM266 semapv:UnspecifiedMatching -OMIM:618691 TMEM266 skos:exactMatch ncbigene:123591 semapv:UnspecifiedMatching -OMIM:618692 VGLL4 skos:exactMatch UMLS:C1540180 semapv:UnspecifiedMatching -OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:28966 semapv:UnspecifiedMatching -OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:VGLL4 semapv:UnspecifiedMatching -OMIM:618692 VGLL4 skos:exactMatch ncbigene:9686 semapv:UnspecifiedMatching -OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:15944 semapv:UnspecifiedMatching -OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:CELA3A semapv:UnspecifiedMatching -OMIM:618693 CELA3A skos:exactMatch ncbigene:10136 semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch UMLS:C1423849 semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:15945 semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:CELA3B semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch ncbigene:23436 semapv:UnspecifiedMatching -OMIM:618696 GFY skos:exactMatch hgnc.symbol:44663 semapv:UnspecifiedMatching -OMIM:618696 GFY skos:exactMatch hgnc.symbol:GFY semapv:UnspecifiedMatching -OMIM:618696 GFY skos:exactMatch ncbigene:100507003 semapv:UnspecifiedMatching -OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch UMLS:C2239362 semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch hgnc.symbol:33345 semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch hgnc.symbol:DUXB semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch ncbigene:100033411 semapv:UnspecifiedMatching -OMIM:618699 ciliary dyskinesia, primary, 43 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching -OMIM:618700 CPHXL skos:exactMatch UMLS:C4085168 semapv:UnspecifiedMatching -OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:51815 semapv:UnspecifiedMatching -OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:CPHXL semapv:UnspecifiedMatching -OMIM:618700 CPHXL skos:exactMatch ncbigene:105371346 semapv:UnspecifiedMatching -OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:31953 semapv:UnspecifiedMatching -OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:LEUTX semapv:UnspecifiedMatching -OMIM:618701 LEUTX skos:exactMatch ncbigene:342900 semapv:UnspecifiedMatching -OMIM:618702 short stature and microcephaly with genital anomalies skos:exactMatch UMLS:C5231467 semapv:UnspecifiedMatching -OMIM:618703 ZNF281 skos:exactMatch UMLS:C1421767 semapv:UnspecifiedMatching -OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:13075 semapv:UnspecifiedMatching -OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:ZNF281 semapv:UnspecifiedMatching -OMIM:618703 ZNF281 skos:exactMatch ncbigene:23528 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch UMLS:C3890126 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:33720 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:CFAP221 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch ncbigene:200373 semapv:UnspecifiedMatching -OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:19866 semapv:UnspecifiedMatching -OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:MBTD1 semapv:UnspecifiedMatching -OMIM:618705 MBTD1 skos:exactMatch ncbigene:54799 semapv:UnspecifiedMatching -OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:43748 semapv:UnspecifiedMatching -OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:HOXA-AS3 semapv:UnspecifiedMatching -OMIM:618706 HOXAAS3 skos:exactMatch ncbigene:100133311 semapv:UnspecifiedMatching -OMIM:618707 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch UMLS:C5231469 semapv:UnspecifiedMatching -OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:20691 semapv:UnspecifiedMatching -OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:NBR2 semapv:UnspecifiedMatching -OMIM:618708 NBR2 skos:exactMatch ncbigene:10230 semapv:UnspecifiedMatching -OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:32790 semapv:UnspecifiedMatching -OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:PNO1 semapv:UnspecifiedMatching -OMIM:618710 PNO1 skos:exactMatch ncbigene:56902 semapv:UnspecifiedMatching -OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:26606 semapv:UnspecifiedMatching -OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:METTL15 semapv:UnspecifiedMatching -OMIM:618711 METTL15 skos:exactMatch ncbigene:196074 semapv:UnspecifiedMatching -OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:24786 semapv:UnspecifiedMatching -OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:ANKRD45 semapv:UnspecifiedMatching -OMIM:618712 ANKRD45 skos:exactMatch ncbigene:339416 semapv:UnspecifiedMatching -OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:18525 semapv:UnspecifiedMatching -OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:CYS1 semapv:UnspecifiedMatching -OMIM:618713 CYS1 skos:exactMatch ncbigene:192668 semapv:UnspecifiedMatching -OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:29176 semapv:UnspecifiedMatching -OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:RAP1GAP2 semapv:UnspecifiedMatching -OMIM:618714 RAP1GAP2 skos:exactMatch ncbigene:23108 semapv:UnspecifiedMatching -OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:19160 semapv:UnspecifiedMatching -OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:ZDHHC6 semapv:UnspecifiedMatching -OMIM:618715 ZDHHC6 skos:exactMatch ncbigene:64429 semapv:UnspecifiedMatching -OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:25464 semapv:UnspecifiedMatching -OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:ATG16L2 semapv:UnspecifiedMatching -OMIM:618716 ATG16L2 skos:exactMatch ncbigene:89849 semapv:UnspecifiedMatching -OMIM:618717 EPGN skos:exactMatch hgnc.symbol:17470 semapv:UnspecifiedMatching -OMIM:618717 EPGN skos:exactMatch hgnc.symbol:EPGN semapv:UnspecifiedMatching -OMIM:618717 EPGN skos:exactMatch ncbigene:255324 semapv:UnspecifiedMatching -OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching -OMIM:618719 megabladder, congenital skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching -OMIM:618720 PDF skos:exactMatch hgnc.symbol:30012 semapv:UnspecifiedMatching -OMIM:618720 PDF skos:exactMatch hgnc.symbol:PDF semapv:UnspecifiedMatching -OMIM:618720 PDF skos:exactMatch ncbigene:64146 semapv:UnspecifiedMatching -OMIM:618721 developmental and epileptic encephalopathy 82 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching -OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:16102 semapv:UnspecifiedMatching -OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:FAM210B semapv:UnspecifiedMatching -OMIM:618722 FAM210B skos:exactMatch ncbigene:116151 semapv:UnspecifiedMatching -OMIM:618723 premature ovarian failure 16 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching -OMIM:618723 premature ovarian failure 16 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching -OMIM:618724 heyn-sproul-jackson syndrome skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching -OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch UMLS:C1425630 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:18592 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:NEK10 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch ncbigene:152110 semapv:UnspecifiedMatching -OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch UMLS:C5231477 semapv:UnspecifiedMatching -OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching -OMIM:618729 liang-wang syndrome skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching -OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching -OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch UMLS:C5231481 semapv:UnspecifiedMatching -OMIM:618732 poirier-bienvenu neurodevelopmental syndrome skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching -OMIM:618733 neuromuscular oculoauditory syndrome skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching -OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching -OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching -OMIM:618735 TTC29 skos:exactMatch UMLS:C1823533 semapv:UnspecifiedMatching -OMIM:618735 TTC29 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching -OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:29936 semapv:UnspecifiedMatching -OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:TTC29 semapv:UnspecifiedMatching -OMIM:618735 TTC29 skos:exactMatch ncbigene:83894 semapv:UnspecifiedMatching -OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching -OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching -OMIM:618738 TTLL4 skos:exactMatch hgnc.symbol:28976 semapv:UnspecifiedMatching -OMIM:618738 TTLL4 skos:exactMatch hgnc.symbol:TTLL4 semapv:UnspecifiedMatching -OMIM:618738 TTLL4 skos:exactMatch ncbigene:9654 semapv:UnspecifiedMatching -OMIM:618739 CTDSPL2 skos:exactMatch UMLS:C1824809 semapv:UnspecifiedMatching -OMIM:618739 CTDSPL2 skos:exactMatch hgnc.symbol:26936 semapv:UnspecifiedMatching -OMIM:618739 CTDSPL2 skos:exactMatch hgnc.symbol:CTDSPL2 semapv:UnspecifiedMatching -OMIM:618739 CTDSPL2 skos:exactMatch ncbigene:51496 semapv:UnspecifiedMatching -OMIM:618740 CCDC154 skos:exactMatch UMLS:C2681330 semapv:UnspecifiedMatching -OMIM:618740 CCDC154 skos:exactMatch hgnc.symbol:34454 semapv:UnspecifiedMatching -OMIM:618740 CCDC154 skos:exactMatch hgnc.symbol:CCDC154 semapv:UnspecifiedMatching -OMIM:618740 CCDC154 skos:exactMatch ncbigene:645811 semapv:UnspecifiedMatching -OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching -OMIM:618742 ZBTB8A skos:exactMatch UMLS:C1428355 semapv:UnspecifiedMatching -OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:24172 semapv:UnspecifiedMatching -OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:ZBTB8A semapv:UnspecifiedMatching -OMIM:618742 ZBTB8A skos:exactMatch ncbigene:653121 semapv:UnspecifiedMatching -OMIM:618743 PLPP7 skos:exactMatch UMLS:C1826651 semapv:UnspecifiedMatching -OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:28174 semapv:UnspecifiedMatching -OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:PLPP7 semapv:UnspecifiedMatching -OMIM:618743 PLPP7 skos:exactMatch ncbigene:84814 semapv:UnspecifiedMatching -OMIM:618744 developmental and epileptic encephalopathy 83 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching -OMIM:618745 spermatogenic failure 42 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching -OMIM:618745 spermatogenic failure 42 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching -OMIM:618746 CTXN3 skos:exactMatch UMLS:C1429082 semapv:UnspecifiedMatching -OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:31110 semapv:UnspecifiedMatching -OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:CTXN3 semapv:UnspecifiedMatching -OMIM:618746 CTXN3 skos:exactMatch ncbigene:613212 semapv:UnspecifiedMatching -OMIM:618747 C1ORF61 skos:exactMatch UMLS:C1823207 semapv:UnspecifiedMatching -OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:30780 semapv:UnspecifiedMatching -OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:MIR9-1HG semapv:UnspecifiedMatching -OMIM:618747 C1ORF61 skos:exactMatch ncbigene:10485 semapv:UnspecifiedMatching -OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching -OMIM:618749 LRRC17 skos:exactMatch UMLS:C1424621 semapv:UnspecifiedMatching -OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:16895 semapv:UnspecifiedMatching -OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:LRRC17 semapv:UnspecifiedMatching -OMIM:618749 LRRC17 skos:exactMatch ncbigene:10234 semapv:UnspecifiedMatching -OMIM:618750 ABT1 skos:exactMatch UMLS:C1424941 semapv:UnspecifiedMatching -OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:17369 semapv:UnspecifiedMatching -OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:ABT1 semapv:UnspecifiedMatching -OMIM:618750 ABT1 skos:exactMatch ncbigene:29777 semapv:UnspecifiedMatching -OMIM:618751 spermatogenic failure 43 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching -OMIM:618751 spermatogenic failure 43 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching -OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching -OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching -OMIM:618753 LRRC41 skos:exactMatch UMLS:C1825888 semapv:UnspecifiedMatching -OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:16917 semapv:UnspecifiedMatching -OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:LRRC41 semapv:UnspecifiedMatching -OMIM:618753 LRRC41 skos:exactMatch ncbigene:10489 semapv:UnspecifiedMatching -OMIM:618754 CPQ skos:exactMatch UMLS:C2985237 semapv:UnspecifiedMatching -OMIM:618754 CPQ skos:exactMatch hgnc.symbol:16910 semapv:UnspecifiedMatching -OMIM:618754 CPQ skos:exactMatch hgnc.symbol:CPQ semapv:UnspecifiedMatching -OMIM:618754 CPQ skos:exactMatch ncbigene:10404 semapv:UnspecifiedMatching -OMIM:618755 STMP1 skos:exactMatch UMLS:C3469749 semapv:UnspecifiedMatching -OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:41909 semapv:UnspecifiedMatching -OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:STMP1 semapv:UnspecifiedMatching -OMIM:618755 STMP1 skos:exactMatch ncbigene:647087 semapv:UnspecifiedMatching -OMIM:618756 ABHD10 skos:exactMatch UMLS:C1538895 semapv:UnspecifiedMatching -OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:25656 semapv:UnspecifiedMatching -OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:ABHD10 semapv:UnspecifiedMatching -OMIM:618756 ABHD10 skos:exactMatch ncbigene:55347 semapv:UnspecifiedMatching -OMIM:618757 CYB561A3 skos:exactMatch UMLS:C3543729 semapv:UnspecifiedMatching -OMIM:618757 CYB561A3 skos:exactMatch hgnc.symbol:23014 semapv:UnspecifiedMatching -OMIM:618757 CYB561A3 skos:exactMatch hgnc.symbol:CYB561A3 semapv:UnspecifiedMatching -OMIM:618757 CYB561A3 skos:exactMatch ncbigene:220002 semapv:UnspecifiedMatching -OMIM:618758 DRC3 skos:exactMatch UMLS:C1825895 semapv:UnspecifiedMatching -OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:25384 semapv:UnspecifiedMatching -OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:DRC3 semapv:UnspecifiedMatching -OMIM:618758 DRC3 skos:exactMatch ncbigene:83450 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch UMLS:C1427154 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:20834 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:CABP7 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch ncbigene:164633 semapv:UnspecifiedMatching -OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch UMLS:C5231491 semapv:UnspecifiedMatching -OMIM:618761 catifa syndrome skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching -OMIM:618762 DNPH1 skos:exactMatch UMLS:C1427424 semapv:UnspecifiedMatching -OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:21218 semapv:UnspecifiedMatching -OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:DNPH1 semapv:UnspecifiedMatching -OMIM:618762 DNPH1 skos:exactMatch ncbigene:10591 semapv:UnspecifiedMatching -OMIM:618763 joubert syndrome 36 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching -OMIM:618763 joubert syndrome 36 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching -OMIM:618764 CACUL1 skos:exactMatch UMLS:C1428228 semapv:UnspecifiedMatching -OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:23727 semapv:UnspecifiedMatching -OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:CACUL1 semapv:UnspecifiedMatching -OMIM:618764 CACUL1 skos:exactMatch ncbigene:143384 semapv:UnspecifiedMatching -OMIM:618765 ESF1 skos:exactMatch UMLS:C1825066 semapv:UnspecifiedMatching -OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:15898 semapv:UnspecifiedMatching -OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:ESF1 semapv:UnspecifiedMatching -OMIM:618765 ESF1 skos:exactMatch ncbigene:51575 semapv:UnspecifiedMatching -OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching -OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching -OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching -OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch Orphanet:506353 semapv:UnspecifiedMatching -OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching -OMIM:618769 DRC7 skos:exactMatch UMLS:C1540249 semapv:UnspecifiedMatching -OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:25289 semapv:UnspecifiedMatching -OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:DRC7 semapv:UnspecifiedMatching -OMIM:618769 DRC7 skos:exactMatch ncbigene:84229 semapv:UnspecifiedMatching -OMIM:618770 spastic paraplegia 82, autosomal recessive skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching -OMIM:618771 ABHD14A skos:exactMatch UMLS:C1538897 semapv:UnspecifiedMatching -OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:24538 semapv:UnspecifiedMatching -OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:ABHD14A semapv:UnspecifiedMatching -OMIM:618771 ABHD14A skos:exactMatch ncbigene:25864 semapv:UnspecifiedMatching -OMIM:618772 CABLES2 skos:exactMatch UMLS:C1424021 semapv:UnspecifiedMatching -OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:16143 semapv:UnspecifiedMatching -OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:CABLES2 semapv:UnspecifiedMatching -OMIM:618772 CABLES2 skos:exactMatch ncbigene:81928 semapv:UnspecifiedMatching -OMIM:618773 lymphatic malformation 8 skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching -OMIM:618774 cebalid syndrome skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching -OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching -OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching -OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching -OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching -OMIM:618777 CAPN8 skos:exactMatch UMLS:C1413118 semapv:UnspecifiedMatching -OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:1485 semapv:UnspecifiedMatching -OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:CAPN8 semapv:UnspecifiedMatching -OMIM:618777 CAPN8 skos:exactMatch ncbigene:388743 semapv:UnspecifiedMatching -OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching -OMIM:618779 coffin-siris syndrome 11 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching -OMIM:618779 coffin-siris syndrome 11 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching -OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch Orphanet:3303 semapv:UnspecifiedMatching -OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching -OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching -OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching -OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching -OMIM:618783 CCNI skos:exactMatch UMLS:C1413182 semapv:UnspecifiedMatching -OMIM:618783 CCNI skos:exactMatch hgnc.symbol:1595 semapv:UnspecifiedMatching -OMIM:618783 CCNI skos:exactMatch hgnc.symbol:CCNI semapv:UnspecifiedMatching -OMIM:618783 CCNI skos:exactMatch ncbigene:10983 semapv:UnspecifiedMatching -OMIM:618784 PITHD1 skos:exactMatch UMLS:C1823748 semapv:UnspecifiedMatching -OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:25022 semapv:UnspecifiedMatching -OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:PITHD1 semapv:UnspecifiedMatching -OMIM:618784 PITHD1 skos:exactMatch ncbigene:57095 semapv:UnspecifiedMatching -OMIM:618785 CDCA2 skos:exactMatch UMLS:C1422795 semapv:UnspecifiedMatching -OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:14623 semapv:UnspecifiedMatching -OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:CDCA2 semapv:UnspecifiedMatching -OMIM:618785 CDCA2 skos:exactMatch ncbigene:157313 semapv:UnspecifiedMatching -OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching -OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching -OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching -OMIM:618788 CCDC134 skos:exactMatch UMLS:C1824660 semapv:UnspecifiedMatching -OMIM:618788 CCDC134 skos:exactMatch hgnc.symbol:26185 semapv:UnspecifiedMatching -OMIM:618788 CCDC134 skos:exactMatch hgnc.symbol:CCDC134 semapv:UnspecifiedMatching -OMIM:618788 CCDC134 skos:exactMatch ncbigene:79879 semapv:UnspecifiedMatching -OMIM:618789 CDV3 skos:exactMatch UMLS:C1824690 semapv:UnspecifiedMatching -OMIM:618789 CDV3 skos:exactMatch hgnc.symbol:26928 semapv:UnspecifiedMatching -OMIM:618789 CDV3 skos:exactMatch hgnc.symbol:CDV3 semapv:UnspecifiedMatching -OMIM:618789 CDV3 skos:exactMatch ncbigene:55573 semapv:UnspecifiedMatching -OMIM:618790 KCTD21 skos:exactMatch UMLS:C1825647 semapv:UnspecifiedMatching -OMIM:618790 KCTD21 skos:exactMatch hgnc.symbol:27452 semapv:UnspecifiedMatching -OMIM:618790 KCTD21 skos:exactMatch hgnc.symbol:KCTD21 semapv:UnspecifiedMatching -OMIM:618790 KCTD21 skos:exactMatch ncbigene:283219 semapv:UnspecifiedMatching -OMIM:618791 KCTD6 skos:exactMatch UMLS:C1427766 semapv:UnspecifiedMatching -OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:22235 semapv:UnspecifiedMatching -OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:KCTD6 semapv:UnspecifiedMatching -OMIM:618791 KCTD6 skos:exactMatch ncbigene:200845 semapv:UnspecifiedMatching -OMIM:618792 developmental and epileptic encephalopathy 84 skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching -OMIM:618793 intellectual developmental disorder, autosomal dominant 62 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching -OMIM:618794 KBTBD11 skos:exactMatch UMLS:C1825643 semapv:UnspecifiedMatching -OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:29104 semapv:UnspecifiedMatching -OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:KBTBD11 semapv:UnspecifiedMatching -OMIM:618794 KBTBD11 skos:exactMatch ncbigene:9920 semapv:UnspecifiedMatching -OMIM:618795 juvenile arthritis skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching -OMIM:618795 juvenile arthritis skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching -OMIM:618796 SAC3D1 skos:exactMatch UMLS:C1539720 semapv:UnspecifiedMatching -OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:30179 semapv:UnspecifiedMatching -OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:SAC3D1 semapv:UnspecifiedMatching -OMIM:618796 SAC3D1 skos:exactMatch ncbigene:29901 semapv:UnspecifiedMatching -OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching -OMIM:618798 beck-fahrner syndrome skos:exactMatch UMLS:C5394097 semapv:UnspecifiedMatching -OMIM:618799 CAPSL skos:exactMatch UMLS:C1824527 semapv:UnspecifiedMatching -OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:28375 semapv:UnspecifiedMatching -OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:CAPSL semapv:UnspecifiedMatching -OMIM:618799 CAPSL skos:exactMatch ncbigene:133690 semapv:UnspecifiedMatching -OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching -OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching -OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch UMLS:C1823272 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch hgnc.symbol:26053 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch hgnc.symbol:THG1L semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch ncbigene:54974 semapv:UnspecifiedMatching -OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching -OMIM:618804 sandestig-stefanova syndrome skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching -OMIM:618805 triokinase and fmn cyclase deficiency syndrome skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching -OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching -OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching -OMIM:618807 lipoprotein(a) quantitative trait locus skos:exactMatch UMLS:C5394134 semapv:UnspecifiedMatching -OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch UMLS:C5394135 semapv:UnspecifiedMatching -OMIM:618809 PIGBOS1 skos:exactMatch UMLS:C3890491 semapv:UnspecifiedMatching -OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:50696 semapv:UnspecifiedMatching -OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:PIGBOS1 semapv:UnspecifiedMatching -OMIM:618809 PIGBOS1 skos:exactMatch ncbigene:101928527 semapv:UnspecifiedMatching -OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching -OMIM:618811 mitochondrial DNA depletion syndrome 18 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching -OMIM:618812 UQCC6 skos:exactMatch UMLS:C2681280 semapv:UnspecifiedMatching -OMIM:618812 UQCC6 skos:exactMatch hgnc.symbol:UQCC6 semapv:UnspecifiedMatching -OMIM:618812 UQCC6 skos:exactMatch ncbigene:728568 semapv:UnspecifiedMatching -OMIM:618813 TTLL7 skos:exactMatch UMLS:C1823542 semapv:UnspecifiedMatching -OMIM:618813 TTLL7 skos:exactMatch hgnc.symbol:26242 semapv:UnspecifiedMatching -OMIM:618813 TTLL7 skos:exactMatch hgnc.symbol:TTLL7 semapv:UnspecifiedMatching -OMIM:618813 TTLL7 skos:exactMatch ncbigene:79739 semapv:UnspecifiedMatching -OMIM:618814 KLRF2 skos:exactMatch UMLS:C3147703 semapv:UnspecifiedMatching -OMIM:618814 KLRF2 skos:exactMatch hgnc.symbol:37646 semapv:UnspecifiedMatching -OMIM:618814 KLRF2 skos:exactMatch hgnc.symbol:KLRF2 semapv:UnspecifiedMatching -OMIM:618814 KLRF2 skos:exactMatch ncbigene:100431172 semapv:UnspecifiedMatching -OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch UMLS:C5394150 semapv:UnspecifiedMatching -OMIM:618816 CDYL2 skos:exactMatch UMLS:C1427863 semapv:UnspecifiedMatching -OMIM:618816 CDYL2 skos:exactMatch hgnc.symbol:23030 semapv:UnspecifiedMatching -OMIM:618816 CDYL2 skos:exactMatch hgnc.symbol:CDYL2 semapv:UnspecifiedMatching -OMIM:618816 CDYL2 skos:exactMatch ncbigene:124359 semapv:UnspecifiedMatching -OMIM:618817 TMEM11 skos:exactMatch UMLS:C1823304 semapv:UnspecifiedMatching -OMIM:618817 TMEM11 skos:exactMatch hgnc.symbol:16823 semapv:UnspecifiedMatching -OMIM:618817 TMEM11 skos:exactMatch hgnc.symbol:TMEM11 semapv:UnspecifiedMatching -OMIM:618817 TMEM11 skos:exactMatch ncbigene:8834 semapv:UnspecifiedMatching -OMIM:618818 HCFC1R1 skos:exactMatch UMLS:C1427406 semapv:UnspecifiedMatching -OMIM:618818 HCFC1R1 skos:exactMatch hgnc.symbol:21198 semapv:UnspecifiedMatching -OMIM:618818 HCFC1R1 skos:exactMatch hgnc.symbol:HCFC1R1 semapv:UnspecifiedMatching -OMIM:618818 HCFC1R1 skos:exactMatch ncbigene:54985 semapv:UnspecifiedMatching -OMIM:618819 PBXIP1 skos:exactMatch UMLS:C1427407 semapv:UnspecifiedMatching -OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:21199 semapv:UnspecifiedMatching -OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:PBXIP1 semapv:UnspecifiedMatching -OMIM:618819 PBXIP1 skos:exactMatch ncbigene:57326 semapv:UnspecifiedMatching -OMIM:618820 genitourinary and/or brain malformation syndrome skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching -OMIM:618821 rhizomelic limb shortening with dysmorphic features skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching -OMIM:618822 congenital myopathy 9a skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching -OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching -OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching -OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching -OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching -OMIM:618826 retinitis pigmentosa 88 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618826 retinitis pigmentosa 88 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching -OMIM:618827 myopia 27, autosomal dominant skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching -OMIM:618828 nabais sa-de vries syndrome, iia 1 skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching -OMIM:618829 nabais sa-de vries syndrome, iia 2 skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching -OMIM:618830 autism, susceptibility to, 20 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching -OMIM:618831 TMEM37 skos:exactMatch UMLS:C1540007 semapv:UnspecifiedMatching -OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:18216 semapv:UnspecifiedMatching -OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:TMEM37 semapv:UnspecifiedMatching -OMIM:618831 TMEM37 skos:exactMatch ncbigene:140738 semapv:UnspecifiedMatching -OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay skos:exactMatch UMLS:C5394228 semapv:UnspecifiedMatching -OMIM:618833 RALGAPB skos:exactMatch UMLS:C1825680 semapv:UnspecifiedMatching -OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:29221 semapv:UnspecifiedMatching -OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:RALGAPB semapv:UnspecifiedMatching -OMIM:618833 RALGAPB skos:exactMatch ncbigene:57148 semapv:UnspecifiedMatching -OMIM:618834 LAMTOR4 skos:exactMatch UMLS:C3541686 semapv:UnspecifiedMatching -OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:33772 semapv:UnspecifiedMatching -OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:LAMTOR4 semapv:UnspecifiedMatching -OMIM:618834 LAMTOR4 skos:exactMatch ncbigene:389541 semapv:UnspecifiedMatching -OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch Orphanet:570491 semapv:UnspecifiedMatching -OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching -OMIM:618836 RALGAPA2 skos:exactMatch UMLS:C1424084 semapv:UnspecifiedMatching -OMIM:618836 RALGAPA2 skos:exactMatch hgnc.symbol:16207 semapv:UnspecifiedMatching -OMIM:618836 RALGAPA2 skos:exactMatch hgnc.symbol:RALGAPA2 semapv:UnspecifiedMatching -OMIM:618836 RALGAPA2 skos:exactMatch ncbigene:57186 semapv:UnspecifiedMatching -OMIM:618837 LAPTM4A skos:exactMatch UMLS:C1417056 semapv:UnspecifiedMatching -OMIM:618837 LAPTM4A skos:exactMatch hgnc.symbol:6924 semapv:UnspecifiedMatching -OMIM:618837 LAPTM4A skos:exactMatch hgnc.symbol:LAPTM4A semapv:UnspecifiedMatching -OMIM:618837 LAPTM4A skos:exactMatch ncbigene:9741 semapv:UnspecifiedMatching -OMIM:618838 combined oxidative phosphorylation deficiency 41 skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching -OMIM:618839 combined oxidative phosphorylation deficiency 42 skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching -OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching -OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching -OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching -OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching -OMIM:618842 HORMAD2 skos:exactMatch UMLS:C1539675 semapv:UnspecifiedMatching -OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:28383 semapv:UnspecifiedMatching -OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:HORMAD2 semapv:UnspecifiedMatching -OMIM:618842 HORMAD2 skos:exactMatch ncbigene:150280 semapv:UnspecifiedMatching -OMIM:618843 LAYN skos:exactMatch UMLS:C1825794 semapv:UnspecifiedMatching -OMIM:618843 LAYN skos:exactMatch hgnc.symbol:29471 semapv:UnspecifiedMatching -OMIM:618843 LAYN skos:exactMatch hgnc.symbol:LAYN semapv:UnspecifiedMatching -OMIM:618843 LAYN skos:exactMatch ncbigene:143903 semapv:UnspecifiedMatching -OMIM:618844 L3MBTL3 skos:exactMatch UMLS:C1427866 semapv:UnspecifiedMatching -OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:23035 semapv:UnspecifiedMatching -OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:L3MBTL3 semapv:UnspecifiedMatching -OMIM:618844 L3MBTL3 skos:exactMatch ncbigene:84456 semapv:UnspecifiedMatching -OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching -OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching -OMIM:618846 diets-jongmans syndrome skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching -OMIM:618847 immunodeficiency 66 skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching -OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching -OMIM:618849 bone marrow failure syndrome 6 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching -OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching -OMIM:618851 combined oxidative phosphorylation deficiency 43 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching -OMIM:618852 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching -OMIM:618853 anauxetic dysplasia 3 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching -OMIM:618853 anauxetic dysplasia 3 skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching -OMIM:618854 SPCS3 skos:exactMatch UMLS:C1539819 semapv:UnspecifiedMatching -OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:26212 semapv:UnspecifiedMatching -OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:SPCS3 semapv:UnspecifiedMatching -OMIM:618854 SPCS3 skos:exactMatch ncbigene:60559 semapv:UnspecifiedMatching -OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch Orphanet:166105 semapv:UnspecifiedMatching -OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching -OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching -OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching -OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch UMLS:C5394597 semapv:UnspecifiedMatching -OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching -OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching -OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch UMLS:C5394304 semapv:UnspecifiedMatching -OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching -OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching -OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch UMLS:C5394311 semapv:UnspecifiedMatching -OMIM:618860 C1ORF87 skos:exactMatch UMLS:C1823707 semapv:UnspecifiedMatching -OMIM:618860 C1ORF87 skos:exactMatch hgnc.symbol:28547 semapv:UnspecifiedMatching -OMIM:618860 C1ORF87 skos:exactMatch hgnc.symbol:C1orf87 semapv:UnspecifiedMatching -OMIM:618860 C1ORF87 skos:exactMatch ncbigene:127795 semapv:UnspecifiedMatching -OMIM:618861 IGLON5 skos:exactMatch UMLS:C2681611 semapv:UnspecifiedMatching -OMIM:618861 IGLON5 skos:exactMatch hgnc.symbol:34550 semapv:UnspecifiedMatching -OMIM:618861 IGLON5 skos:exactMatch hgnc.symbol:IGLON5 semapv:UnspecifiedMatching -OMIM:618861 IGLON5 skos:exactMatch ncbigene:402665 semapv:UnspecifiedMatching -OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching -OMIM:618863 retinal dystrophy with leukodystrophy skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching -OMIM:618864 C19ORF48P skos:exactMatch UMLS:C1824489 semapv:UnspecifiedMatching -OMIM:618864 C19ORF48P skos:exactMatch hgnc.symbol:C19orf48P semapv:UnspecifiedMatching -OMIM:618864 C19ORF48P skos:exactMatch ncbigene:84798 semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch UMLS:C3469888 semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:21638 semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:CEP85L semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch ncbigene:387119 semapv:UnspecifiedMatching -OMIM:618866 tremor, hereditary essential, 6 skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch UMLS:C1423669 semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch hgnc.symbol:15703 semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch hgnc.symbol:RHOF semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch ncbigene:54509 semapv:UnspecifiedMatching -OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching -OMIM:618869 RNF144B skos:exactMatch UMLS:C1427625 semapv:UnspecifiedMatching -OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:21578 semapv:UnspecifiedMatching -OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:RNF144B semapv:UnspecifiedMatching -OMIM:618869 RNF144B skos:exactMatch ncbigene:255488 semapv:UnspecifiedMatching -OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching -OMIM:618871 ARHGEF16 skos:exactMatch UMLS:C1423545 semapv:UnspecifiedMatching -OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:15515 semapv:UnspecifiedMatching -OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:ARHGEF16 semapv:UnspecifiedMatching -OMIM:618871 ARHGEF16 skos:exactMatch ncbigene:27237 semapv:UnspecifiedMatching -OMIM:618872 nizon-isidor syndrome skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching -OMIM:618873 lissencephaly 10 skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching -OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch Orphanet:139474 semapv:UnspecifiedMatching -OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch UMLS:C3495679 semapv:UnspecifiedMatching -OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching -OMIM:618876 epilepsy, progressive myoclonic, 11 skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching -OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching -OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching -OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching -OMIM:618880 glaucoma, primary closed-angle skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching -OMIM:618881 galactosemia 4 skos:exactMatch Orphanet:570422 semapv:UnspecifiedMatching -OMIM:618881 galactosemia 4 skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching -OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching -OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching -OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching -OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching -OMIM:618884 proteinuria, chronic benign skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching -OMIM:618885 congenital disorder of glycosylation, iia iit skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching -OMIM:618886 pseudo-torch syndrome 3 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching -OMIM:618887 NFKBID skos:exactMatch UMLS:C2681901 semapv:UnspecifiedMatching -OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:15671 semapv:UnspecifiedMatching -OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:NFKBID semapv:UnspecifiedMatching -OMIM:618887 NFKBID skos:exactMatch ncbigene:84807 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch UMLS:C1423799 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:15878 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:CASS4 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch ncbigene:57091 semapv:UnspecifiedMatching -OMIM:618889 liberfarb syndrome skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching -OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch UMLS:C5394423 semapv:UnspecifiedMatching -OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching -OMIM:618892 harderoporphyria skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching -OMIM:618893 NOL4L skos:exactMatch UMLS:C1423987 semapv:UnspecifiedMatching -OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:16106 semapv:UnspecifiedMatching -OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:NOL4L semapv:UnspecifiedMatching -OMIM:618893 NOL4L skos:exactMatch ncbigene:140688 semapv:UnspecifiedMatching -OMIM:618894 ROMO1 skos:exactMatch UMLS:C1424062 semapv:UnspecifiedMatching -OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:16185 semapv:UnspecifiedMatching -OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:ROMO1 semapv:UnspecifiedMatching -OMIM:618894 ROMO1 skos:exactMatch ncbigene:140823 semapv:UnspecifiedMatching -OMIM:618895 IZUMO2 skos:exactMatch UMLS:C1824482 semapv:UnspecifiedMatching -OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:28518 semapv:UnspecifiedMatching -OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:IZUMO2 semapv:UnspecifiedMatching -OMIM:618895 IZUMO2 skos:exactMatch ncbigene:126123 semapv:UnspecifiedMatching -OMIM:618896 IZUMO3 skos:exactMatch UMLS:C1538360 semapv:UnspecifiedMatching -OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:31421 semapv:UnspecifiedMatching -OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:IZUMO3 semapv:UnspecifiedMatching -OMIM:618896 IZUMO3 skos:exactMatch ncbigene:100129669 semapv:UnspecifiedMatching -OMIM:618897 IZUMO4 skos:exactMatch UMLS:C3147678 semapv:UnspecifiedMatching -OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:26950 semapv:UnspecifiedMatching -OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:IZUMO4 semapv:UnspecifiedMatching -OMIM:618897 IZUMO4 skos:exactMatch ncbigene:113177 semapv:UnspecifiedMatching -OMIM:618898 CEP85 skos:exactMatch UMLS:C1824546 semapv:UnspecifiedMatching -OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:25309 semapv:UnspecifiedMatching -OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:CEP85 semapv:UnspecifiedMatching -OMIM:618898 CEP85 skos:exactMatch ncbigene:64793 semapv:UnspecifiedMatching -OMIM:618899 MAN2B2 skos:exactMatch UMLS:C1428881 semapv:UnspecifiedMatching -OMIM:618899 MAN2B2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:29623 semapv:UnspecifiedMatching -OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:MAN2B2 semapv:UnspecifiedMatching -OMIM:618899 MAN2B2 skos:exactMatch ncbigene:23324 semapv:UnspecifiedMatching -OMIM:618900 ZCWPW1 skos:exactMatch UMLS:C1428099 semapv:UnspecifiedMatching -OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:23486 semapv:UnspecifiedMatching -OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:ZCWPW1 semapv:UnspecifiedMatching -OMIM:618900 ZCWPW1 skos:exactMatch ncbigene:55063 semapv:UnspecifiedMatching -OMIM:618901 46,xx sex reversal 5 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:25755 semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:METTL2A semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch ncbigene:339175 semapv:UnspecifiedMatching -OMIM:618903 METTL6 skos:exactMatch UMLS:C1825975 semapv:UnspecifiedMatching -OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:28343 semapv:UnspecifiedMatching -OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:METTL6 semapv:UnspecifiedMatching -OMIM:618903 METTL6 skos:exactMatch ncbigene:131965 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch UMLS:C1539217 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:25536 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:DALRD3 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch ncbigene:55152 semapv:UnspecifiedMatching -OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5394446 semapv:UnspecifiedMatching -OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5400127 semapv:UnspecifiedMatching -OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch UMLS:C5394447 semapv:UnspecifiedMatching -OMIM:618907 silver-russell syndrome 4 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching -OMIM:618907 silver-russell syndrome 4 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching -OMIM:618908 silver-russell syndrome 5 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching -OMIM:618908 silver-russell syndrome 5 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching -OMIM:618909 ILKAP skos:exactMatch UMLS:C1423578 semapv:UnspecifiedMatching -OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:15566 semapv:UnspecifiedMatching -OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:ILKAP semapv:UnspecifiedMatching -OMIM:618909 ILKAP skos:exactMatch ncbigene:80895 semapv:UnspecifiedMatching -OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching -OMIM:618911 C16ORF92 skos:exactMatch UMLS:C2681297 semapv:UnspecifiedMatching -OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:26346 semapv:UnspecifiedMatching -OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:C16orf92 semapv:UnspecifiedMatching -OMIM:618911 C16ORF92 skos:exactMatch ncbigene:146378 semapv:UnspecifiedMatching -OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching -OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching -OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching -OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching -OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching -OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching -OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching -OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching -OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching -OMIM:618919 KLHL42 skos:exactMatch UMLS:C1537491 semapv:UnspecifiedMatching -OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:29252 semapv:UnspecifiedMatching -OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:KLHL42 semapv:UnspecifiedMatching -OMIM:618919 KLHL42 skos:exactMatch ncbigene:57542 semapv:UnspecifiedMatching -OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching -OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching -OMIM:618921 LACTB2 skos:exactMatch UMLS:C1425568 semapv:UnspecifiedMatching -OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:18512 semapv:UnspecifiedMatching -OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:LACTB2 semapv:UnspecifiedMatching -OMIM:618921 LACTB2 skos:exactMatch ncbigene:51110 semapv:UnspecifiedMatching -OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching -OMIM:618923 FABP12 skos:exactMatch UMLS:C2681462 semapv:UnspecifiedMatching -OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:34524 semapv:UnspecifiedMatching -OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:FABP12 semapv:UnspecifiedMatching -OMIM:618923 FABP12 skos:exactMatch ncbigene:646486 semapv:UnspecifiedMatching -OMIM:618924 episodic ataxia, iia 9 skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching -OMIM:618925 GPR171 skos:exactMatch UMLS:C1539606 semapv:UnspecifiedMatching -OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:30057 semapv:UnspecifiedMatching -OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:GPR171 semapv:UnspecifiedMatching -OMIM:618925 GPR171 skos:exactMatch ncbigene:29909 semapv:UnspecifiedMatching -OMIM:618926 OMD skos:exactMatch UMLS:C1417948 semapv:UnspecifiedMatching -OMIM:618926 OMD skos:exactMatch hgnc.symbol:8134 semapv:UnspecifiedMatching -OMIM:618926 OMD skos:exactMatch hgnc.symbol:OMD semapv:UnspecifiedMatching -OMIM:618926 OMD skos:exactMatch ncbigene:4958 semapv:UnspecifiedMatching -OMIM:618927 KRTAP24-1 skos:exactMatch UMLS:C2239642 semapv:UnspecifiedMatching -OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:33902 semapv:UnspecifiedMatching -OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:KRTAP24-1 semapv:UnspecifiedMatching -OMIM:618927 KRTAP24-1 skos:exactMatch ncbigene:643803 semapv:UnspecifiedMatching -OMIM:618928 LDHAL6A skos:exactMatch UMLS:C1537556 semapv:UnspecifiedMatching -OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:28335 semapv:UnspecifiedMatching -OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:LDHAL6A semapv:UnspecifiedMatching -OMIM:618928 LDHAL6A skos:exactMatch ncbigene:160287 semapv:UnspecifiedMatching -OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching -OMIM:618930 ANKRD18B skos:exactMatch UMLS:C1538281 semapv:UnspecifiedMatching -OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:23644 semapv:UnspecifiedMatching -OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:ANKRD18B semapv:UnspecifiedMatching -OMIM:618930 ANKRD18B skos:exactMatch ncbigene:441459 semapv:UnspecifiedMatching -OMIM:618931 ZNFX1 skos:exactMatch UMLS:C1824076 semapv:UnspecifiedMatching -OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:29271 semapv:UnspecifiedMatching -OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:ZNFX1 semapv:UnspecifiedMatching -OMIM:618931 ZNFX1 skos:exactMatch ncbigene:57169 semapv:UnspecifiedMatching -OMIM:618932 OST4 skos:exactMatch UMLS:C2829972 semapv:UnspecifiedMatching -OMIM:618932 OST4 skos:exactMatch hgnc.symbol:32483 semapv:UnspecifiedMatching -OMIM:618932 OST4 skos:exactMatch hgnc.symbol:OST4 semapv:UnspecifiedMatching -OMIM:618932 OST4 skos:exactMatch ncbigene:100128731 semapv:UnspecifiedMatching -OMIM:618933 SH3RF3 skos:exactMatch UMLS:C1428402 semapv:UnspecifiedMatching -OMIM:618933 SH3RF3 skos:exactMatch hgnc.symbol:24699 semapv:UnspecifiedMatching -OMIM:618933 SH3RF3 skos:exactMatch hgnc.symbol:SH3RF3 semapv:UnspecifiedMatching -OMIM:618933 SH3RF3 skos:exactMatch ncbigene:344558 semapv:UnspecifiedMatching -OMIM:618934 CCSER1 skos:exactMatch UMLS:C2829370 semapv:UnspecifiedMatching -OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:29349 semapv:UnspecifiedMatching -OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:CCSER1 semapv:UnspecifiedMatching -OMIM:618934 CCSER1 skos:exactMatch ncbigene:401145 semapv:UnspecifiedMatching -OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching -OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch UMLS:C3469867 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:16158 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:SPATA25 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch ncbigene:128497 semapv:UnspecifiedMatching -OMIM:618937 PPP1R35 skos:exactMatch UMLS:C3471437 semapv:UnspecifiedMatching -OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:28320 semapv:UnspecifiedMatching -OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:PPP1R35 semapv:UnspecifiedMatching -OMIM:618937 PPP1R35 skos:exactMatch ncbigene:221908 semapv:UnspecifiedMatching -OMIM:618938 LASTR skos:exactMatch UMLS:C5240280 semapv:UnspecifiedMatching -OMIM:618938 LASTR skos:exactMatch hgnc.symbol:54143 semapv:UnspecifiedMatching -OMIM:618938 LASTR skos:exactMatch hgnc.symbol:LASTR semapv:UnspecifiedMatching -OMIM:618938 LASTR skos:exactMatch ncbigene:105376382 semapv:UnspecifiedMatching -OMIM:618939 treacher collins syndrome 4 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching -OMIM:618939 treacher collins syndrome 4 skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching -OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching -OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch UMLS:C1824556 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:28295 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:CCDC32 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch ncbigene:90416 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch UMLS:C4320409 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch UMLS:C5394549 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:49576 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:IQANK1 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch ncbigene:642574 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch UMLS:C1822912 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:20159 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:SNORD8 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch ncbigene:319103 semapv:UnspecifiedMatching -OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching -OMIM:618945 SPACA6 skos:exactMatch UMLS:C2681867 semapv:UnspecifiedMatching -OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:27113 semapv:UnspecifiedMatching -OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:SPACA6 semapv:UnspecifiedMatching -OMIM:618945 SPACA6 skos:exactMatch ncbigene:147650 semapv:UnspecifiedMatching -OMIM:618946 LLCFC1 skos:exactMatch UMLS:C1427740 semapv:UnspecifiedMatching -OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:21750 semapv:UnspecifiedMatching -OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:LLCFC1 semapv:UnspecifiedMatching -OMIM:618946 LLCFC1 skos:exactMatch ncbigene:135927 semapv:UnspecifiedMatching -OMIM:618947 arthrogryposis multiplex congenita 5 skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching -OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching -OMIM:618949 RIMKLA skos:exactMatch UMLS:C1825154 semapv:UnspecifiedMatching -OMIM:618949 RIMKLA skos:exactMatch hgnc.symbol:28725 semapv:UnspecifiedMatching -OMIM:618949 RIMKLA skos:exactMatch hgnc.symbol:RIMKLA semapv:UnspecifiedMatching -OMIM:618949 RIMKLA skos:exactMatch ncbigene:284716 semapv:UnspecifiedMatching -OMIM:618950 suleiman-el-hattab syndrome skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching -OMIM:618951 combined oxidative phosphorylation deficiency 45 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching -OMIM:618952 combined oxidative phosphorylation deficiency 46 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch UMLS:C1539214 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:20583 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:CYP4Z1 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch ncbigene:199974 semapv:UnspecifiedMatching -OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch UMLS:C2681396 semapv:UnspecifiedMatching -OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:24426 semapv:UnspecifiedMatching -OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:CYP4Z2P semapv:UnspecifiedMatching -OMIM:618955 retinitis pigmentosa 89 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:618955 retinitis pigmentosa 89 skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching -OMIM:618956 RHEBL1 skos:exactMatch UMLS:C1419384 semapv:UnspecifiedMatching -OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:21166 semapv:UnspecifiedMatching -OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:RHEBL1 semapv:UnspecifiedMatching -OMIM:618956 RHEBL1 skos:exactMatch ncbigene:121268 semapv:UnspecifiedMatching -OMIM:618957 ANKRD27 skos:exactMatch UMLS:C1428472 semapv:UnspecifiedMatching -OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:25310 semapv:UnspecifiedMatching -OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:ANKRD27 semapv:UnspecifiedMatching -OMIM:618957 ANKRD27 skos:exactMatch ncbigene:84079 semapv:UnspecifiedMatching -OMIM:618958 combined oxidative phosphorylation deficiency 47 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching -OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching -OMIM:618960 mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching -OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch Orphanet:589435 semapv:UnspecifiedMatching -OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching -OMIM:618962 OVCH2 skos:exactMatch UMLS:C1538556 semapv:UnspecifiedMatching -OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:29970 semapv:UnspecifiedMatching -OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:OVCH2 semapv:UnspecifiedMatching -OMIM:618962 OVCH2 skos:exactMatch ncbigene:341277 semapv:UnspecifiedMatching -OMIM:618963 immunodeficiency 69 skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch UMLS:C1826834 semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:25850 semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:RMND5A semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch ncbigene:64795 semapv:UnspecifiedMatching -OMIM:618965 TM9SF1 skos:exactMatch UMLS:C1420772 semapv:UnspecifiedMatching -OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:11864 semapv:UnspecifiedMatching -OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:TM9SF1 semapv:UnspecifiedMatching -OMIM:618965 TM9SF1 skos:exactMatch ncbigene:10548 semapv:UnspecifiedMatching -OMIM:618966 TMEM161A skos:exactMatch UMLS:C1823425 semapv:UnspecifiedMatching -OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:26020 semapv:UnspecifiedMatching -OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:TMEM161A semapv:UnspecifiedMatching -OMIM:618966 TMEM161A skos:exactMatch ncbigene:54929 semapv:UnspecifiedMatching -OMIM:618967 ABCF3 skos:exactMatch UMLS:C1412095 semapv:UnspecifiedMatching -OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:72 semapv:UnspecifiedMatching -OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:ABCF3 semapv:UnspecifiedMatching -OMIM:618967 ABCF3 skos:exactMatch ncbigene:55324 semapv:UnspecifiedMatching -OMIM:618968 C1ORF146 skos:exactMatch UMLS:C1823765 semapv:UnspecifiedMatching -OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:24032 semapv:UnspecifiedMatching -OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:C1orf146 semapv:UnspecifiedMatching -OMIM:618968 C1ORF146 skos:exactMatch ncbigene:388649 semapv:UnspecifiedMatching -OMIM:618969 immunodeficiency 70 skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching -OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching -OMIM:618971 tolchin-le caignec syndrome skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching -OMIM:618972 mitochondrial DNA depletion syndrome 19 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching -OMIM:618973 sodium-dependent multivitamin transporter deficiency skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching -OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching -OMIM:618975 congenital myopathy 17 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching -OMIM:618976 MYOSLID skos:exactMatch UMLS:C4320587 semapv:UnspecifiedMatching -OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:51821 semapv:UnspecifiedMatching -OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:MYOSLID semapv:UnspecifiedMatching -OMIM:618976 MYOSLID skos:exactMatch ncbigene:105373853 semapv:UnspecifiedMatching -OMIM:618977 optic atrophy 12 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching -OMIM:618977 optic atrophy 12 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching -OMIM:618978 TMEM163 skos:exactMatch UMLS:C1823428 semapv:UnspecifiedMatching -OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:25380 semapv:UnspecifiedMatching -OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:TMEM163 semapv:UnspecifiedMatching -OMIM:618978 TMEM163 skos:exactMatch ncbigene:81615 semapv:UnspecifiedMatching -OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch UMLS:C3888126 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch UMLS:C1824570 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:28514 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:CEP112 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch ncbigene:201134 semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch UMLS:C2240311 semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:24641 semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:VPS35L semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch ncbigene:57020 semapv:UnspecifiedMatching -OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching -OMIM:618983 blood group, lewis system skos:exactMatch UMLS:C0023595 semapv:UnspecifiedMatching -OMIM:618984 SUN3 skos:exactMatch UMLS:C1539898 semapv:UnspecifiedMatching -OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:22429 semapv:UnspecifiedMatching -OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:SUN3 semapv:UnspecifiedMatching -OMIM:618984 SUN3 skos:exactMatch ncbigene:256979 semapv:UnspecifiedMatching -OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching -OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching -OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching -OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch UMLS:C2239304 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch UMLS:C5436937 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:33939 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:CLRN2 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch ncbigene:645104 semapv:UnspecifiedMatching -OMIM:618989 TMEM119 skos:exactMatch UMLS:C1823380 semapv:UnspecifiedMatching -OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:27884 semapv:UnspecifiedMatching -OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:TMEM119 semapv:UnspecifiedMatching -OMIM:618989 TMEM119 skos:exactMatch ncbigene:338773 semapv:UnspecifiedMatching -OMIM:618990 EVA1A skos:exactMatch UMLS:C1823431 semapv:UnspecifiedMatching -OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:25816 semapv:UnspecifiedMatching -OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:EVA1A semapv:UnspecifiedMatching -OMIM:618990 EVA1A skos:exactMatch ncbigene:84141 semapv:UnspecifiedMatching -OMIM:618991 SEMA4G skos:exactMatch UMLS:C1419953 semapv:UnspecifiedMatching -OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:10735 semapv:UnspecifiedMatching -OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:SEMA4G semapv:UnspecifiedMatching -OMIM:618991 SEMA4G skos:exactMatch ncbigene:57715 semapv:UnspecifiedMatching -OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching -OMIM:618993 RNF208 skos:exactMatch UMLS:C2239896 semapv:UnspecifiedMatching -OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:25420 semapv:UnspecifiedMatching -OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:RNF208 semapv:UnspecifiedMatching -OMIM:618993 RNF208 skos:exactMatch ncbigene:727800 semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch UMLS:C1825370 semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch hgnc.symbol:28242 semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch hgnc.symbol:HPDL semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch ncbigene:84842 semapv:UnspecifiedMatching -OMIM:618995 BPESC1 skos:exactMatch UMLS:C1421889 semapv:UnspecifiedMatching -OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:13228 semapv:UnspecifiedMatching -OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:BPESC1 semapv:UnspecifiedMatching -OMIM:618995 BPESC1 skos:exactMatch ncbigene:60467 semapv:UnspecifiedMatching -OMIM:618996 LRRC3B skos:exactMatch UMLS:C1537593 semapv:UnspecifiedMatching -OMIM:618996 LRRC3B skos:exactMatch hgnc.symbol:28105 semapv:UnspecifiedMatching -OMIM:618996 LRRC3B skos:exactMatch hgnc.symbol:LRRC3B semapv:UnspecifiedMatching -OMIM:618996 LRRC3B skos:exactMatch ncbigene:116135 semapv:UnspecifiedMatching -OMIM:618997 CDADC1 skos:exactMatch UMLS:C1426841 semapv:UnspecifiedMatching -OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:20299 semapv:UnspecifiedMatching -OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:CDADC1 semapv:UnspecifiedMatching -OMIM:618997 CDADC1 skos:exactMatch ncbigene:81602 semapv:UnspecifiedMatching -OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching -OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching -OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching -OMIM:619001 ANGEL2 skos:exactMatch UMLS:C1823660 semapv:UnspecifiedMatching -OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:30534 semapv:UnspecifiedMatching -OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:ANGEL2 semapv:UnspecifiedMatching -OMIM:619001 ANGEL2 skos:exactMatch ncbigene:90806 semapv:UnspecifiedMatching -OMIM:619002 LRRC18 skos:exactMatch UMLS:C1537598 semapv:UnspecifiedMatching -OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:23199 semapv:UnspecifiedMatching -OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:LRRC18 semapv:UnspecifiedMatching -OMIM:619002 LRRC18 skos:exactMatch ncbigene:474354 semapv:UnspecifiedMatching -OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching -OMIM:619004 deeah syndrome skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching -OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching -OMIM:619006 BIVM skos:exactMatch UMLS:C1423926 semapv:UnspecifiedMatching -OMIM:619006 BIVM skos:exactMatch hgnc.symbol:16034 semapv:UnspecifiedMatching -OMIM:619006 BIVM skos:exactMatch hgnc.symbol:BIVM semapv:UnspecifiedMatching -OMIM:619006 BIVM skos:exactMatch ncbigene:54841 semapv:UnspecifiedMatching -OMIM:619007 retinitis pigmentosa 90 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching -OMIM:619007 retinitis pigmentosa 90 skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching -OMIM:619008 LINC00598 skos:exactMatch UMLS:C1427631 semapv:UnspecifiedMatching -OMIM:619008 LINC00598 skos:exactMatch hgnc.symbol:42770 semapv:UnspecifiedMatching -OMIM:619008 LINC00598 skos:exactMatch hgnc.symbol:LINC00598 semapv:UnspecifiedMatching -OMIM:619008 LINC00598 skos:exactMatch ncbigene:646982 semapv:UnspecifiedMatching -OMIM:619009 oocyte/zygote/embryo maturation arrest 8 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching -OMIM:619010 ATXN7L3 skos:exactMatch UMLS:C1538306 semapv:UnspecifiedMatching -OMIM:619010 ATXN7L3 skos:exactMatch hgnc.symbol:25416 semapv:UnspecifiedMatching -OMIM:619010 ATXN7L3 skos:exactMatch hgnc.symbol:ATXN7L3 semapv:UnspecifiedMatching -OMIM:619010 ATXN7L3 skos:exactMatch ncbigene:56970 semapv:UnspecifiedMatching -OMIM:619011 oocyte/zygote/embryo maturation arrest 9 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching -OMIM:619012 combined oxidative phosphorylation deficiency 48 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching -OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching -OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching -OMIM:619014 TTC5 skos:exactMatch UMLS:C1426138 semapv:UnspecifiedMatching -OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:19274 semapv:UnspecifiedMatching -OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:TTC5 semapv:UnspecifiedMatching -OMIM:619014 TTC5 skos:exactMatch ncbigene:91875 semapv:UnspecifiedMatching -OMIM:619015 ENY2 skos:exactMatch UMLS:C1825055 semapv:UnspecifiedMatching -OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:24449 semapv:UnspecifiedMatching -OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:ENY2 semapv:UnspecifiedMatching -OMIM:619015 ENY2 skos:exactMatch ncbigene:56943 semapv:UnspecifiedMatching -OMIM:619016 ifap syndrome 2 skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching -OMIM:619016 ifap syndrome 2 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching -OMIM:619017 RHBDL3 skos:exactMatch UMLS:C1424334 semapv:UnspecifiedMatching -OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:16502 semapv:UnspecifiedMatching -OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:RHBDL3 semapv:UnspecifiedMatching -OMIM:619017 RHBDL3 skos:exactMatch ncbigene:162494 semapv:UnspecifiedMatching -OMIM:619018 MIR30B skos:exactMatch UMLS:C1537737 semapv:UnspecifiedMatching -OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:31625 semapv:UnspecifiedMatching -OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:MIR30B semapv:UnspecifiedMatching -OMIM:619018 MIR30B skos:exactMatch ncbigene:407030 semapv:UnspecifiedMatching -OMIM:619019 MIR30D skos:exactMatch UMLS:C1537740 semapv:UnspecifiedMatching -OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:31628 semapv:UnspecifiedMatching -OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:MIR30D semapv:UnspecifiedMatching -OMIM:619019 MIR30D skos:exactMatch ncbigene:407033 semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch UMLS:C1537591 semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:25434 semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:LRP2BP semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch ncbigene:55805 semapv:UnspecifiedMatching -OMIM:619021 ANKRD37 skos:exactMatch UMLS:C1538295 semapv:UnspecifiedMatching -OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:29593 semapv:UnspecifiedMatching -OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:ANKRD37 semapv:UnspecifiedMatching -OMIM:619021 ANKRD37 skos:exactMatch ncbigene:353322 semapv:UnspecifiedMatching -OMIM:619022 TMEM229B skos:exactMatch UMLS:C1426714 semapv:UnspecifiedMatching -OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:20130 semapv:UnspecifiedMatching -OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:TMEM229B semapv:UnspecifiedMatching -OMIM:619022 TMEM229B skos:exactMatch ncbigene:161145 semapv:UnspecifiedMatching -OMIM:619023 OSTC skos:exactMatch UMLS:C2678545 semapv:UnspecifiedMatching -OMIM:619023 OSTC skos:exactMatch hgnc.symbol:24448 semapv:UnspecifiedMatching -OMIM:619023 OSTC skos:exactMatch hgnc.symbol:OSTC semapv:UnspecifiedMatching -OMIM:619023 OSTC skos:exactMatch ncbigene:58505 semapv:UnspecifiedMatching -OMIM:619024 combined oxidative phosphorylation deficiency 49 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching -OMIM:619025 combined oxidative phosphorylation deficiency 50 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching -OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching -OMIM:619027 spastic paraplegia 83, autosomal recessive skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching -OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching -OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching -OMIM:619029 KRTCAP2 skos:exactMatch UMLS:C1428752 semapv:UnspecifiedMatching -OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:28942 semapv:UnspecifiedMatching -OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:KRTCAP2 semapv:UnspecifiedMatching -OMIM:619029 KRTCAP2 skos:exactMatch ncbigene:200185 semapv:UnspecifiedMatching -OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching -OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching -OMIM:619032 RCN3 skos:exactMatch UMLS:C1427360 semapv:UnspecifiedMatching -OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:21145 semapv:UnspecifiedMatching -OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:RCN3 semapv:UnspecifiedMatching -OMIM:619032 RCN3 skos:exactMatch ncbigene:57333 semapv:UnspecifiedMatching -OMIM:619033 vissers-bodmer syndrome skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching -OMIM:619034 RBPMS2 skos:exactMatch UMLS:C1538819 semapv:UnspecifiedMatching -OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:19098 semapv:UnspecifiedMatching -OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:RBPMS2 semapv:UnspecifiedMatching -OMIM:619034 RBPMS2 skos:exactMatch ncbigene:348093 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch UMLS:C1537734 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:31620 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:MIR29B2 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch ncbigene:407025 semapv:UnspecifiedMatching -OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching -OMIM:619037 LRRC34 skos:exactMatch UMLS:C1537609 semapv:UnspecifiedMatching -OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:28408 semapv:UnspecifiedMatching -OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:LRRC34 semapv:UnspecifiedMatching -OMIM:619037 LRRC34 skos:exactMatch ncbigene:151827 semapv:UnspecifiedMatching -OMIM:619038 SPOCD1 skos:exactMatch UMLS:C1539846 semapv:UnspecifiedMatching -OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:26338 semapv:UnspecifiedMatching -OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:SPOCD1 semapv:UnspecifiedMatching -OMIM:619038 SPOCD1 skos:exactMatch ncbigene:90853 semapv:UnspecifiedMatching -OMIM:619039 REPIN1 skos:exactMatch UMLS:C1425179 semapv:UnspecifiedMatching -OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:17922 semapv:UnspecifiedMatching -OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:REPIN1 semapv:UnspecifiedMatching -OMIM:619039 REPIN1 skos:exactMatch ncbigene:29803 semapv:UnspecifiedMatching -OMIM:619040 myofibrillar myopathy 10 skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching -OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching -OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching -OMIM:619042 spinal muscular atrophy, infantile, james iia skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching -OMIM:619043 IPPK skos:exactMatch UMLS:C1825614 semapv:UnspecifiedMatching -OMIM:619043 IPPK skos:exactMatch hgnc.symbol:14645 semapv:UnspecifiedMatching -OMIM:619043 IPPK skos:exactMatch hgnc.symbol:IPPK semapv:UnspecifiedMatching -OMIM:619043 IPPK skos:exactMatch ncbigene:64768 semapv:UnspecifiedMatching -OMIM:619044 spermatogenic failure 44 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619044 spermatogenic failure 44 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch UMLS:C1539752 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:29446 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:SERHL2 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch ncbigene:253190 semapv:UnspecifiedMatching -OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching -OMIM:619047 PPP1R32 skos:exactMatch UMLS:C3471436 semapv:UnspecifiedMatching -OMIM:619047 PPP1R32 skos:exactMatch hgnc.symbol:SAXO4 semapv:UnspecifiedMatching -OMIM:619047 PPP1R32 skos:exactMatch ncbigene:220004 semapv:UnspecifiedMatching -OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -OMIM:619049 TDRP skos:exactMatch UMLS:C1824251 semapv:UnspecifiedMatching -OMIM:619049 TDRP skos:exactMatch hgnc.symbol:26951 semapv:UnspecifiedMatching -OMIM:619049 TDRP skos:exactMatch hgnc.symbol:TDRP semapv:UnspecifiedMatching -OMIM:619049 TDRP skos:exactMatch ncbigene:157695 semapv:UnspecifiedMatching -OMIM:619050 HMGCLL1 skos:exactMatch UMLS:C1427507 semapv:UnspecifiedMatching -OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:21359 semapv:UnspecifiedMatching -OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:HMGCLL1 semapv:UnspecifiedMatching -OMIM:619050 HMGCLL1 skos:exactMatch ncbigene:54511 semapv:UnspecifiedMatching -OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching -OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching -OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching -OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching -OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching -OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching -OMIM:619057 combined oxidative phosphorylation deficiency 51 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching -OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching -OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching -OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching -OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching -OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching -OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching -OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching -OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching -OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching -OMIM:619066 ZNF532 skos:exactMatch UMLS:C1429015 semapv:UnspecifiedMatching -OMIM:619066 ZNF532 skos:exactMatch UMLS:C5436729 semapv:UnspecifiedMatching -OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:30940 semapv:UnspecifiedMatching -OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:ZNF532 semapv:UnspecifiedMatching -OMIM:619066 ZNF532 skos:exactMatch ncbigene:55205 semapv:UnspecifiedMatching -OMIM:619067 HSDL1 skos:exactMatch UMLS:C1537382 semapv:UnspecifiedMatching -OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:16475 semapv:UnspecifiedMatching -OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:HSDL1 semapv:UnspecifiedMatching -OMIM:619067 HSDL1 skos:exactMatch ncbigene:83693 semapv:UnspecifiedMatching -OMIM:619068 LRRC19 skos:exactMatch UMLS:C1428058 semapv:UnspecifiedMatching -OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:23379 semapv:UnspecifiedMatching -OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:LRRC19 semapv:UnspecifiedMatching -OMIM:619068 LRRC19 skos:exactMatch ncbigene:64922 semapv:UnspecifiedMatching -OMIM:619069 TENT5B skos:exactMatch UMLS:C1539444 semapv:UnspecifiedMatching -OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:28273 semapv:UnspecifiedMatching -OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:TENT5B semapv:UnspecifiedMatching -OMIM:619069 TENT5B skos:exactMatch ncbigene:115572 semapv:UnspecifiedMatching -OMIM:619070 LETMD1 skos:exactMatch UMLS:C1537567 semapv:UnspecifiedMatching -OMIM:619070 LETMD1 skos:exactMatch hgnc.symbol:24241 semapv:UnspecifiedMatching -OMIM:619070 LETMD1 skos:exactMatch hgnc.symbol:LETMD1 semapv:UnspecifiedMatching -OMIM:619070 LETMD1 skos:exactMatch ncbigene:25875 semapv:UnspecifiedMatching -OMIM:619071 leukodystrophy, hypomyelinating, 20 skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching -OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching -OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch Orphanet:93160 semapv:UnspecifiedMatching -OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching -OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching -OMIM:619075 bachmann-bupp syndrome skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching -OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching -OMIM:619077 HSPA4L skos:exactMatch UMLS:C1537386 semapv:UnspecifiedMatching -OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:17041 semapv:UnspecifiedMatching -OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:HSPA4L semapv:UnspecifiedMatching -OMIM:619077 HSPA4L skos:exactMatch ncbigene:22824 semapv:UnspecifiedMatching -OMIM:619078 KLHL11 skos:exactMatch UMLS:C1425947 semapv:UnspecifiedMatching -OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:19008 semapv:UnspecifiedMatching -OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:KLHL11 semapv:UnspecifiedMatching -OMIM:619078 KLHL11 skos:exactMatch ncbigene:55175 semapv:UnspecifiedMatching -OMIM:619079 inflammatory bowel disease (crohn disease) 30 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching -OMIM:619080 kilquist syndrome skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching -OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching -OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching -OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching -OMIM:619083 delpire-mcneill syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:619083 delpire-mcneill syndrome skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching -OMIM:619084 TIGD3 skos:exactMatch UMLS:C1425454 semapv:UnspecifiedMatching -OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:18334 semapv:UnspecifiedMatching -OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:TIGD3 semapv:UnspecifiedMatching -OMIM:619084 TIGD3 skos:exactMatch ncbigene:220359 semapv:UnspecifiedMatching -OMIM:619085 PRANCR skos:exactMatch UMLS:C5240597 semapv:UnspecifiedMatching -OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:51126 semapv:UnspecifiedMatching -OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:PRANCR semapv:UnspecifiedMatching -OMIM:619085 PRANCR skos:exactMatch ncbigene:101928062 semapv:UnspecifiedMatching -OMIM:619086 deafness, autosomal dominant 79 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching -OMIM:619087 noonan syndrome 13 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching -OMIM:619087 noonan syndrome 13 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching -OMIM:619088 NUGGC skos:exactMatch UMLS:C2240287 semapv:UnspecifiedMatching -OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:33550 semapv:UnspecifiedMatching -OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:NUGGC semapv:UnspecifiedMatching -OMIM:619088 NUGGC skos:exactMatch ncbigene:389643 semapv:UnspecifiedMatching -OMIM:619089 GIPC2 skos:exactMatch UMLS:C1825352 semapv:UnspecifiedMatching -OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:18177 semapv:UnspecifiedMatching -OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:GIPC2 semapv:UnspecifiedMatching -OMIM:619089 GIPC2 skos:exactMatch ncbigene:54810 semapv:UnspecifiedMatching -OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching -OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching -OMIM:619093 deafness, autosomal recessive 116 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching -OMIM:619094 spermatogenic failure 45 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619094 spermatogenic failure 45 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching -OMIM:619095 spermatogenic failure 46 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619095 spermatogenic failure 46 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching -OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching -OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching -OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching -OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch UMLS:C2240259 semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch hgnc.symbol:25183 semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch hgnc.symbol:M1AP semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch ncbigene:130951 semapv:UnspecifiedMatching -OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching -OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching -OMIM:619100 CCDC25 skos:exactMatch UMLS:C1824550 semapv:UnspecifiedMatching -OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:25591 semapv:UnspecifiedMatching -OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:CCDC25 semapv:UnspecifiedMatching -OMIM:619100 CCDC25 skos:exactMatch ncbigene:55246 semapv:UnspecifiedMatching -OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching -OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching -OMIM:619102 spermatogenic failure 47 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619102 spermatogenic failure 47 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching -OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching -OMIM:619104 RBM47 skos:exactMatch UMLS:C2239875 semapv:UnspecifiedMatching -OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:30358 semapv:UnspecifiedMatching -OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:RBM47 semapv:UnspecifiedMatching -OMIM:619104 RBM47 skos:exactMatch ncbigene:54502 semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch UMLS:C1537741 semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:31629 semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:MIR30E semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch ncbigene:407034 semapv:UnspecifiedMatching -OMIM:619106 PRRT3AS1 skos:exactMatch UMLS:C5436822 semapv:UnspecifiedMatching -OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:41151 semapv:UnspecifiedMatching -OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:PRRT3-AS1 semapv:UnspecifiedMatching -OMIM:619106 PRRT3AS1 skos:exactMatch ncbigene:100874032 semapv:UnspecifiedMatching -OMIM:619107 SNX33 skos:exactMatch UMLS:C1822710 semapv:UnspecifiedMatching -OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:28468 semapv:UnspecifiedMatching -OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:SNX33 semapv:UnspecifiedMatching -OMIM:619107 SNX33 skos:exactMatch ncbigene:257364 semapv:UnspecifiedMatching -OMIM:619108 spermatogenic failure 48 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching -OMIM:619108 spermatogenic failure 48 skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch UMLS:C1538126 semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:30511 semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:YIF1B semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch ncbigene:90522 semapv:UnspecifiedMatching -OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching -OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching -OMIM:619111 coach syndrome 2 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching -OMIM:619111 coach syndrome 2 skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching -OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching -OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching -OMIM:619113 coach syndrome 3 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching -OMIM:619113 coach syndrome 3 skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching -OMIM:619114 SMYD5 skos:exactMatch UMLS:C1424131 semapv:UnspecifiedMatching -OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:16258 semapv:UnspecifiedMatching -OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:SMYD5 semapv:UnspecifiedMatching -OMIM:619114 SMYD5 skos:exactMatch ncbigene:10322 semapv:UnspecifiedMatching -OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching -OMIM:619116 SLC39A9 skos:exactMatch UMLS:C1426756 semapv:UnspecifiedMatching -OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:20182 semapv:UnspecifiedMatching -OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:SLC39A9 semapv:UnspecifiedMatching -OMIM:619116 SLC39A9 skos:exactMatch ncbigene:55334 semapv:UnspecifiedMatching -OMIM:619117 ARL16 skos:exactMatch UMLS:C1824216 semapv:UnspecifiedMatching -OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:27902 semapv:UnspecifiedMatching -OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:ARL16 semapv:UnspecifiedMatching -OMIM:619117 ARL16 skos:exactMatch ncbigene:339231 semapv:UnspecifiedMatching -OMIM:619118 ATP13A1 skos:exactMatch UMLS:C1540214 semapv:UnspecifiedMatching -OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:24215 semapv:UnspecifiedMatching -OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:ATP13A1 semapv:UnspecifiedMatching -OMIM:619118 ATP13A1 skos:exactMatch ncbigene:57130 semapv:UnspecifiedMatching -OMIM:619119 ATP13A5 skos:exactMatch UMLS:C1540218 semapv:UnspecifiedMatching -OMIM:619119 ATP13A5 skos:exactMatch hgnc.symbol:31789 semapv:UnspecifiedMatching -OMIM:619119 ATP13A5 skos:exactMatch hgnc.symbol:ATP13A5 semapv:UnspecifiedMatching -OMIM:619119 ATP13A5 skos:exactMatch ncbigene:344905 semapv:UnspecifiedMatching -OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching -OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching -OMIM:619122 vertebral hypersegmentation and orofacial anomalies skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching -OMIM:619123 cardiofacioneurodevelopmental syndrome skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching -OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching -OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching -OMIM:619125 kaya-barakat-masson syndrome skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching -OMIM:619126 immunodeficiency 75 with lymphoproliferation skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching -OMIM:619127 mandibuloacral dysplasia progeroid syndrome skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching -OMIM:619128 HYI skos:exactMatch UMLS:C1825556 semapv:UnspecifiedMatching -OMIM:619128 HYI skos:exactMatch hgnc.symbol:26948 semapv:UnspecifiedMatching -OMIM:619128 HYI skos:exactMatch hgnc.symbol:HYI semapv:UnspecifiedMatching -OMIM:619128 HYI skos:exactMatch ncbigene:81888 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch UMLS:C1428618 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:26676 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:CFAP58 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch ncbigene:159686 semapv:UnspecifiedMatching -OMIM:619130 thrombocytopenia 7 skos:exactMatch Orphanet:466806 semapv:UnspecifiedMatching -OMIM:619130 thrombocytopenia 7 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching -OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching -OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching -OMIM:619134 SMYD4 skos:exactMatch UMLS:C1427288 semapv:UnspecifiedMatching -OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:21067 semapv:UnspecifiedMatching -OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:SMYD4 semapv:UnspecifiedMatching -OMIM:619134 SMYD4 skos:exactMatch ncbigene:114826 semapv:UnspecifiedMatching -OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching -OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching -OMIM:619136 SLC37A2 skos:exactMatch UMLS:C1427053 semapv:UnspecifiedMatching -OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:20644 semapv:UnspecifiedMatching -OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:SLC37A2 semapv:UnspecifiedMatching -OMIM:619136 SLC37A2 skos:exactMatch ncbigene:219855 semapv:UnspecifiedMatching -OMIM:619137 SLC37A3 skos:exactMatch UMLS:C1427059 semapv:UnspecifiedMatching -OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:20651 semapv:UnspecifiedMatching -OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:SLC37A3 semapv:UnspecifiedMatching -OMIM:619137 SLC37A3 skos:exactMatch ncbigene:84255 semapv:UnspecifiedMatching -OMIM:619138 N4BP1 skos:exactMatch UMLS:C2239766 semapv:UnspecifiedMatching -OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:29850 semapv:UnspecifiedMatching -OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:N4BP1 semapv:UnspecifiedMatching -OMIM:619138 N4BP1 skos:exactMatch ncbigene:9683 semapv:UnspecifiedMatching -OMIM:619139 N4BP2 skos:exactMatch UMLS:C2239767 semapv:UnspecifiedMatching -OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:29851 semapv:UnspecifiedMatching -OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:N4BP2 semapv:UnspecifiedMatching -OMIM:619139 N4BP2 skos:exactMatch ncbigene:55728 semapv:UnspecifiedMatching -OMIM:619140 N4BP3 skos:exactMatch UMLS:C3148457 semapv:UnspecifiedMatching -OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:29852 semapv:UnspecifiedMatching -OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:N4BP3 semapv:UnspecifiedMatching -OMIM:619140 N4BP3 skos:exactMatch ncbigene:23138 semapv:UnspecifiedMatching -OMIM:619142 cardioacrofacial dysplasia 1 skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching -OMIM:619143 cardioacrofacial dysplasia 2 skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching -OMIM:619144 spermatogenic failure 49 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619144 spermatogenic failure 49 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching -OMIM:619145 spermatogenic failure 50 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching -OMIM:619145 spermatogenic failure 50 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching -OMIM:619146 premature ovarian failure 17 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching -OMIM:619152 TBC1D2B skos:exactMatch hgnc.symbol:29183 semapv:UnspecifiedMatching -OMIM:619152 TBC1D2B skos:exactMatch hgnc.symbol:TBC1D2B semapv:UnspecifiedMatching -OMIM:619152 TBC1D2B skos:exactMatch ncbigene:23102 semapv:UnspecifiedMatching -OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:23323 semapv:UnspecifiedMatching -OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:SLC25A51 semapv:UnspecifiedMatching -OMIM:619153 SLC25A51 skos:exactMatch ncbigene:92014 semapv:UnspecifiedMatching -OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:29207 semapv:UnspecifiedMatching -OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:LRRC47 semapv:UnspecifiedMatching -OMIM:619154 LRRC47 skos:exactMatch ncbigene:57470 semapv:UnspecifiedMatching -OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:26252 semapv:UnspecifiedMatching -OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:DNAI4 semapv:UnspecifiedMatching -OMIM:619156 DNAI4 skos:exactMatch ncbigene:79819 semapv:UnspecifiedMatching -OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:24942 semapv:UnspecifiedMatching -OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:PIK3IP1 semapv:UnspecifiedMatching -OMIM:619158 PIK3IP1 skos:exactMatch ncbigene:113791 semapv:UnspecifiedMatching -OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:1816 semapv:UnspecifiedMatching -OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:CEACAM4 semapv:UnspecifiedMatching -OMIM:619159 CEACAM4 skos:exactMatch ncbigene:1089 semapv:UnspecifiedMatching -OMIM:619160 CEACAM7 skos:exactMatch hgnc.symbol:1819 semapv:UnspecifiedMatching -OMIM:619160 CEACAM7 skos:exactMatch hgnc.symbol:CEACAM7 semapv:UnspecifiedMatching -OMIM:619160 CEACAM7 skos:exactMatch ncbigene:1087 semapv:UnspecifiedMatching -OMIM:619162 FOXJ2 skos:exactMatch hgnc.symbol:24818 semapv:UnspecifiedMatching -OMIM:619162 FOXJ2 skos:exactMatch hgnc.symbol:FOXJ2 semapv:UnspecifiedMatching -OMIM:619162 FOXJ2 skos:exactMatch ncbigene:55810 semapv:UnspecifiedMatching -OMIM:619163 RNF130 skos:exactMatch hgnc.symbol:18280 semapv:UnspecifiedMatching -OMIM:619163 RNF130 skos:exactMatch hgnc.symbol:RNF130 semapv:UnspecifiedMatching -OMIM:619163 RNF130 skos:exactMatch ncbigene:55819 semapv:UnspecifiedMatching -OMIM:619168 TMEM109 skos:exactMatch hgnc.symbol:28771 semapv:UnspecifiedMatching -OMIM:619168 TMEM109 skos:exactMatch hgnc.symbol:TMEM109 semapv:UnspecifiedMatching -OMIM:619168 TMEM109 skos:exactMatch ncbigene:79073 semapv:UnspecifiedMatching -OMIM:619169 GTPBP4 skos:exactMatch hgnc.symbol:21535 semapv:UnspecifiedMatching -OMIM:619169 GTPBP4 skos:exactMatch hgnc.symbol:GTPBP4 semapv:UnspecifiedMatching -OMIM:619169 GTPBP4 skos:exactMatch ncbigene:23560 semapv:UnspecifiedMatching -OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:14237 semapv:UnspecifiedMatching -OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:GUCD1 semapv:UnspecifiedMatching -OMIM:619171 GUCD1 skos:exactMatch ncbigene:83606 semapv:UnspecifiedMatching -OMIM:619181 FAM177A1 skos:exactMatch hgnc.symbol:19829 semapv:UnspecifiedMatching -OMIM:619181 FAM177A1 skos:exactMatch hgnc.symbol:FAM177A1 semapv:UnspecifiedMatching -OMIM:619181 FAM177A1 skos:exactMatch ncbigene:283635 semapv:UnspecifiedMatching -OMIM:619186 PLEKHM3 skos:exactMatch hgnc.symbol:34006 semapv:UnspecifiedMatching -OMIM:619186 PLEKHM3 skos:exactMatch hgnc.symbol:PLEKHM3 semapv:UnspecifiedMatching -OMIM:619186 PLEKHM3 skos:exactMatch ncbigene:389072 semapv:UnspecifiedMatching -OMIM:619187 GRIFIN skos:exactMatch hgnc.symbol:4577 semapv:UnspecifiedMatching -OMIM:619187 GRIFIN skos:exactMatch hgnc.symbol:GRIFIN semapv:UnspecifiedMatching -OMIM:619187 GRIFIN skos:exactMatch ncbigene:402635 semapv:UnspecifiedMatching -OMIM:619190 IHO1 skos:exactMatch hgnc.symbol:27945 semapv:UnspecifiedMatching -OMIM:619190 IHO1 skos:exactMatch hgnc.symbol:IHO1 semapv:UnspecifiedMatching -OMIM:619190 IHO1 skos:exactMatch ncbigene:339834 semapv:UnspecifiedMatching -OMIM:619192 SLC7A6OS skos:exactMatch hgnc.symbol:25807 semapv:UnspecifiedMatching -OMIM:619192 SLC7A6OS skos:exactMatch hgnc.symbol:SLC7A6OS semapv:UnspecifiedMatching -OMIM:619192 SLC7A6OS skos:exactMatch ncbigene:84138 semapv:UnspecifiedMatching -OMIM:619193 TTLL8 skos:exactMatch hgnc.symbol:34000 semapv:UnspecifiedMatching -OMIM:619193 TTLL8 skos:exactMatch hgnc.symbol:TTLL8 semapv:UnspecifiedMatching -OMIM:619193 TTLL8 skos:exactMatch ncbigene:164714 semapv:UnspecifiedMatching -OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:24483 semapv:UnspecifiedMatching -OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:TTLL3 semapv:UnspecifiedMatching -OMIM:619195 TTLL3 skos:exactMatch ncbigene:26140 semapv:UnspecifiedMatching -OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:18138 semapv:UnspecifiedMatching -OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:EIF3L semapv:UnspecifiedMatching -OMIM:619197 EIF3L skos:exactMatch ncbigene:51386 semapv:UnspecifiedMatching -OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:20957 semapv:UnspecifiedMatching -OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:SDHAF4 semapv:UnspecifiedMatching -OMIM:619198 SDHAF4 skos:exactMatch ncbigene:135154 semapv:UnspecifiedMatching -OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:16154 semapv:UnspecifiedMatching -OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:SNX21 semapv:UnspecifiedMatching -OMIM:619200 SNX21 skos:exactMatch ncbigene:90203 semapv:UnspecifiedMatching -OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:24328 semapv:UnspecifiedMatching -OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:NIP7 semapv:UnspecifiedMatching -OMIM:619204 NIP7 skos:exactMatch ncbigene:51388 semapv:UnspecifiedMatching -OMIM:619205 GHITM skos:exactMatch hgnc.symbol:17281 semapv:UnspecifiedMatching -OMIM:619205 GHITM skos:exactMatch hgnc.symbol:GHITM semapv:UnspecifiedMatching -OMIM:619205 GHITM skos:exactMatch ncbigene:27069 semapv:UnspecifiedMatching -OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:15678 semapv:UnspecifiedMatching -OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:SCHIP1 semapv:UnspecifiedMatching -OMIM:619206 SCHIP1 skos:exactMatch ncbigene:29970 semapv:UnspecifiedMatching -OMIM:619207 INO80D skos:exactMatch hgnc.symbol:25997 semapv:UnspecifiedMatching -OMIM:619207 INO80D skos:exactMatch hgnc.symbol:INO80D semapv:UnspecifiedMatching -OMIM:619207 INO80D skos:exactMatch ncbigene:54891 semapv:UnspecifiedMatching -OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:14178 semapv:UnspecifiedMatching -OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:HS3ST6 semapv:UnspecifiedMatching -OMIM:619210 HS3ST6 skos:exactMatch ncbigene:64711 semapv:UnspecifiedMatching -OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:18212 semapv:UnspecifiedMatching -OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:HPCAL4 semapv:UnspecifiedMatching -OMIM:619211 HPCAL4 skos:exactMatch ncbigene:51440 semapv:UnspecifiedMatching -OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:50365 semapv:UnspecifiedMatching -OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:IRAIN semapv:UnspecifiedMatching -OMIM:619212 IRAIN skos:exactMatch ncbigene:104472848 semapv:UnspecifiedMatching -OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:23528 semapv:UnspecifiedMatching -OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:ZSWIM8 semapv:UnspecifiedMatching -OMIM:619213 ZSWIM8 skos:exactMatch ncbigene:23053 semapv:UnspecifiedMatching -OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:30950 semapv:UnspecifiedMatching -OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:ZNF639 semapv:UnspecifiedMatching -OMIM:619214 ZNF639 skos:exactMatch ncbigene:51193 semapv:UnspecifiedMatching -OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:26799 semapv:UnspecifiedMatching -OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:C2orf69 semapv:UnspecifiedMatching -OMIM:619219 C2ORF69 skos:exactMatch ncbigene:205327 semapv:UnspecifiedMatching -OMIM:619222 SCAI skos:exactMatch hgnc.symbol:26709 semapv:UnspecifiedMatching -OMIM:619222 SCAI skos:exactMatch hgnc.symbol:SCAI semapv:UnspecifiedMatching -OMIM:619222 SCAI skos:exactMatch ncbigene:286205 semapv:UnspecifiedMatching -OMIM:619225 RPL13A skos:exactMatch hgnc.symbol:10304 semapv:UnspecifiedMatching -OMIM:619225 RPL13A skos:exactMatch hgnc.symbol:RPL13A semapv:UnspecifiedMatching -OMIM:619225 RPL13A skos:exactMatch ncbigene:23521 semapv:UnspecifiedMatching -OMIM:619230 SAP25 skos:exactMatch hgnc.symbol:41908 semapv:UnspecifiedMatching -OMIM:619230 SAP25 skos:exactMatch hgnc.symbol:SAP25 semapv:UnspecifiedMatching -OMIM:619230 SAP25 skos:exactMatch ncbigene:100316904 semapv:UnspecifiedMatching -OMIM:619231 SAMD4B skos:exactMatch hgnc.symbol:25492 semapv:UnspecifiedMatching -OMIM:619231 SAMD4B skos:exactMatch hgnc.symbol:SAMD4B semapv:UnspecifiedMatching -OMIM:619231 SAMD4B skos:exactMatch ncbigene:55095 semapv:UnspecifiedMatching -OMIM:619233 SAMD14 skos:exactMatch hgnc.symbol:27312 semapv:UnspecifiedMatching -OMIM:619233 SAMD14 skos:exactMatch hgnc.symbol:SAMD14 semapv:UnspecifiedMatching -OMIM:619233 SAMD14 skos:exactMatch ncbigene:201191 semapv:UnspecifiedMatching -OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:30361 semapv:UnspecifiedMatching -OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:RPP25 semapv:UnspecifiedMatching -OMIM:619235 RPP25 skos:exactMatch ncbigene:54913 semapv:UnspecifiedMatching -OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:21636 semapv:UnspecifiedMatching -OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:KIAA0408 semapv:UnspecifiedMatching -OMIM:619236 KIAA0408 skos:exactMatch ncbigene:9729 semapv:UnspecifiedMatching -OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:28992 semapv:UnspecifiedMatching -OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:KIAA0232 semapv:UnspecifiedMatching -OMIM:619237 KIAA0232 skos:exactMatch ncbigene:9778 semapv:UnspecifiedMatching -OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:34360 semapv:UnspecifiedMatching -OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:GDPGP1 semapv:UnspecifiedMatching -OMIM:619240 GDPGP1 skos:exactMatch ncbigene:390637 semapv:UnspecifiedMatching -OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:14137 semapv:UnspecifiedMatching -OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:JPT2 semapv:UnspecifiedMatching -OMIM:619241 JPT2 skos:exactMatch ncbigene:90861 semapv:UnspecifiedMatching -OMIM:619242 JPT1 skos:exactMatch hgnc.symbol:14569 semapv:UnspecifiedMatching -OMIM:619242 JPT1 skos:exactMatch hgnc.symbol:JPT1 semapv:UnspecifiedMatching -OMIM:619242 JPT1 skos:exactMatch ncbigene:51155 semapv:UnspecifiedMatching -OMIM:619246 SPX skos:exactMatch hgnc.symbol:28139 semapv:UnspecifiedMatching -OMIM:619246 SPX skos:exactMatch hgnc.symbol:SPX semapv:UnspecifiedMatching -OMIM:619246 SPX skos:exactMatch ncbigene:80763 semapv:UnspecifiedMatching -OMIM:619247 SKA3 skos:exactMatch hgnc.symbol:20262 semapv:UnspecifiedMatching -OMIM:619247 SKA3 skos:exactMatch hgnc.symbol:SKA3 semapv:UnspecifiedMatching -OMIM:619247 SKA3 skos:exactMatch ncbigene:221150 semapv:UnspecifiedMatching -OMIM:619249 CCDC186 skos:exactMatch hgnc.symbol:24349 semapv:UnspecifiedMatching -OMIM:619249 CCDC186 skos:exactMatch hgnc.symbol:CCDC186 semapv:UnspecifiedMatching -OMIM:619249 CCDC186 skos:exactMatch ncbigene:55088 semapv:UnspecifiedMatching -OMIM:619250 RUNDC1 skos:exactMatch hgnc.symbol:25418 semapv:UnspecifiedMatching -OMIM:619250 RUNDC1 skos:exactMatch hgnc.symbol:RUNDC1 semapv:UnspecifiedMatching -OMIM:619250 RUNDC1 skos:exactMatch ncbigene:146923 semapv:UnspecifiedMatching -OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:28494 semapv:UnspecifiedMatching -OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:ACTL9 semapv:UnspecifiedMatching -OMIM:619251 ACTL9 skos:exactMatch ncbigene:284382 semapv:UnspecifiedMatching -OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:18380 semapv:UnspecifiedMatching -OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:BZW1 semapv:UnspecifiedMatching -OMIM:619252 BZW1 skos:exactMatch ncbigene:9689 semapv:UnspecifiedMatching -OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:29117 semapv:UnspecifiedMatching -OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:WSCD2 semapv:UnspecifiedMatching -OMIM:619253 WSCD2 skos:exactMatch ncbigene:9671 semapv:UnspecifiedMatching -OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:12958 semapv:UnspecifiedMatching -OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:ZNF17 semapv:UnspecifiedMatching -OMIM:619254 ZNF17 skos:exactMatch ncbigene:7565 semapv:UnspecifiedMatching -OMIM:619257 HRURF skos:exactMatch hgnc.symbol:55085 semapv:UnspecifiedMatching -OMIM:619257 HRURF skos:exactMatch hgnc.symbol:HRURF semapv:UnspecifiedMatching -OMIM:619257 HRURF skos:exactMatch ncbigene:120766137 semapv:UnspecifiedMatching -OMIM:619261 KRTCAP3 skos:exactMatch hgnc.symbol:28943 semapv:UnspecifiedMatching -OMIM:619261 KRTCAP3 skos:exactMatch hgnc.symbol:KRTCAP3 semapv:UnspecifiedMatching -OMIM:619261 KRTCAP3 skos:exactMatch ncbigene:200634 semapv:UnspecifiedMatching -OMIM:619262 KLHL17 skos:exactMatch hgnc.symbol:24023 semapv:UnspecifiedMatching -OMIM:619262 KLHL17 skos:exactMatch hgnc.symbol:KLHL17 semapv:UnspecifiedMatching -OMIM:619262 KLHL17 skos:exactMatch ncbigene:339451 semapv:UnspecifiedMatching -OMIM:619265 TRIM52 skos:exactMatch hgnc.symbol:19024 semapv:UnspecifiedMatching -OMIM:619265 TRIM52 skos:exactMatch hgnc.symbol:TRIM52 semapv:UnspecifiedMatching -OMIM:619265 TRIM52 skos:exactMatch ncbigene:84851 semapv:UnspecifiedMatching -OMIM:619266 TRIM52AS1 skos:exactMatch hgnc.symbol:49006 semapv:UnspecifiedMatching -OMIM:619266 TRIM52AS1 skos:exactMatch hgnc.symbol:TRIM52-AS1 semapv:UnspecifiedMatching -OMIM:619266 TRIM52AS1 skos:exactMatch ncbigene:100507602 semapv:UnspecifiedMatching -OMIM:619270 IFTAP skos:exactMatch hgnc.symbol:25142 semapv:UnspecifiedMatching -OMIM:619270 IFTAP skos:exactMatch hgnc.symbol:IFTAP semapv:UnspecifiedMatching -OMIM:619270 IFTAP skos:exactMatch ncbigene:119710 semapv:UnspecifiedMatching -OMIM:619275 BZW2 skos:exactMatch hgnc.symbol:18808 semapv:UnspecifiedMatching -OMIM:619275 BZW2 skos:exactMatch hgnc.symbol:BZW2 semapv:UnspecifiedMatching -OMIM:619275 BZW2 skos:exactMatch ncbigene:28969 semapv:UnspecifiedMatching -OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:28153 semapv:UnspecifiedMatching -OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:BRME1 semapv:UnspecifiedMatching -OMIM:619276 BRME1 skos:exactMatch ncbigene:79173 semapv:UnspecifiedMatching -OMIM:619277 CIMIP1 skos:exactMatch hgnc.symbol:CIMIP1 semapv:UnspecifiedMatching -OMIM:619277 CIMIP1 skos:exactMatch ncbigene:128602 semapv:UnspecifiedMatching -OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:25005 semapv:UnspecifiedMatching -OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:CCDC59 semapv:UnspecifiedMatching -OMIM:619280 CCDC59 skos:exactMatch ncbigene:29080 semapv:UnspecifiedMatching -OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:22202 semapv:UnspecifiedMatching -OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:FAM131B semapv:UnspecifiedMatching -OMIM:619282 FAM131B skos:exactMatch ncbigene:9715 semapv:UnspecifiedMatching -OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:19180 semapv:UnspecifiedMatching -OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:RNF44 semapv:UnspecifiedMatching -OMIM:619283 RNF44 skos:exactMatch ncbigene:22838 semapv:UnspecifiedMatching -OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:29189 semapv:UnspecifiedMatching -OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:ZFR2 semapv:UnspecifiedMatching -OMIM:619284 ZFR2 skos:exactMatch ncbigene:23217 semapv:UnspecifiedMatching -OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:27344 semapv:UnspecifiedMatching -OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:TMEM218 semapv:UnspecifiedMatching -OMIM:619285 TMEM218 skos:exactMatch ncbigene:219854 semapv:UnspecifiedMatching -OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:27709 semapv:UnspecifiedMatching -OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:CCDC66 semapv:UnspecifiedMatching -OMIM:619287 CCDC66 skos:exactMatch ncbigene:285331 semapv:UnspecifiedMatching -OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:24487 semapv:UnspecifiedMatching -OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:CCDC69 semapv:UnspecifiedMatching -OMIM:619288 CCDC69 skos:exactMatch ncbigene:26112 semapv:UnspecifiedMatching -OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:14983 semapv:UnspecifiedMatching -OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:ZFP91 semapv:UnspecifiedMatching -OMIM:619289 ZFP91 skos:exactMatch ncbigene:80829 semapv:UnspecifiedMatching -OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:13526 semapv:UnspecifiedMatching -OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:VPS9D1 semapv:UnspecifiedMatching -OMIM:619292 VPS9D1 skos:exactMatch ncbigene:9605 semapv:UnspecifiedMatching -OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:16784 semapv:UnspecifiedMatching -OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:NIBAN1 semapv:UnspecifiedMatching -OMIM:619294 NIBAN1 skos:exactMatch ncbigene:116496 semapv:UnspecifiedMatching -OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:20341 semapv:UnspecifiedMatching -OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:ZDHHC14 semapv:UnspecifiedMatching -OMIM:619295 ZDHHC14 skos:exactMatch ncbigene:79683 semapv:UnspecifiedMatching -OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:53788 semapv:UnspecifiedMatching -OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:THORLNC semapv:UnspecifiedMatching -OMIM:619296 THORLNC skos:exactMatch ncbigene:100506797 semapv:UnspecifiedMatching -OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:22213 semapv:UnspecifiedMatching -OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:ZNF777 semapv:UnspecifiedMatching -OMIM:619298 ZNF777 skos:exactMatch ncbigene:27153 semapv:UnspecifiedMatching -OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:29004 semapv:UnspecifiedMatching -OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:ZNF646 semapv:UnspecifiedMatching -OMIM:619299 ZNF646 skos:exactMatch ncbigene:9726 semapv:UnspecifiedMatching -OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:18832 semapv:UnspecifiedMatching -OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:ZNF394 semapv:UnspecifiedMatching -OMIM:619300 ZNF394 skos:exactMatch ncbigene:84124 semapv:UnspecifiedMatching -OMIM:619305 TC2N skos:exactMatch hgnc.symbol:19859 semapv:UnspecifiedMatching -OMIM:619305 TC2N skos:exactMatch hgnc.symbol:TC2N semapv:UnspecifiedMatching -OMIM:619305 TC2N skos:exactMatch ncbigene:123036 semapv:UnspecifiedMatching -OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:13785 semapv:UnspecifiedMatching -OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:MRS2 semapv:UnspecifiedMatching -OMIM:619307 MRS2 skos:exactMatch ncbigene:57380 semapv:UnspecifiedMatching -OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:19322 semapv:UnspecifiedMatching -OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:PPM1E semapv:UnspecifiedMatching -OMIM:619308 PPM1E skos:exactMatch ncbigene:22843 semapv:UnspecifiedMatching -OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:19388 semapv:UnspecifiedMatching -OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:PPM1F semapv:UnspecifiedMatching -OMIM:619309 PPM1F skos:exactMatch ncbigene:9647 semapv:UnspecifiedMatching -OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:33941 semapv:UnspecifiedMatching -OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:SLC35E2B semapv:UnspecifiedMatching -OMIM:619315 SLC35E2B skos:exactMatch ncbigene:728661 semapv:UnspecifiedMatching -OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:29011 semapv:UnspecifiedMatching -OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:TRANK1 semapv:UnspecifiedMatching -OMIM:619316 TRANK1 skos:exactMatch ncbigene:9881 semapv:UnspecifiedMatching -OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:20818 semapv:UnspecifiedMatching -OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:LRRC15 semapv:UnspecifiedMatching -OMIM:619327 LRRC15 skos:exactMatch ncbigene:131578 semapv:UnspecifiedMatching -OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:28988 semapv:UnspecifiedMatching -OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:TATDN2 semapv:UnspecifiedMatching -OMIM:619330 TATDN2 skos:exactMatch ncbigene:9797 semapv:UnspecifiedMatching -OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:29325 semapv:UnspecifiedMatching -OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:MEAK7 semapv:UnspecifiedMatching -OMIM:619331 MEAK7 skos:exactMatch ncbigene:57707 semapv:UnspecifiedMatching -OMIM:619332 LYSET skos:exactMatch hgnc.symbol:LYSET semapv:UnspecifiedMatching -OMIM:619332 LYSET skos:exactMatch ncbigene:26175 semapv:UnspecifiedMatching -OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:29016 semapv:UnspecifiedMatching -OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:GARRE1 semapv:UnspecifiedMatching -OMIM:619335 GARRE1 skos:exactMatch ncbigene:9710 semapv:UnspecifiedMatching -OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:24812 semapv:UnspecifiedMatching -OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:MTX3 semapv:UnspecifiedMatching -OMIM:619336 MTX3 skos:exactMatch ncbigene:345778 semapv:UnspecifiedMatching -OMIM:619337 NMS skos:exactMatch hgnc.symbol:32203 semapv:UnspecifiedMatching -OMIM:619337 NMS skos:exactMatch hgnc.symbol:NMS semapv:UnspecifiedMatching -OMIM:619337 NMS skos:exactMatch ncbigene:129521 semapv:UnspecifiedMatching -OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:17481 semapv:UnspecifiedMatching -OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:PJA2 semapv:UnspecifiedMatching -OMIM:619341 PJA2 skos:exactMatch ncbigene:9867 semapv:UnspecifiedMatching -OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:17205 semapv:UnspecifiedMatching -OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:PGAP6 semapv:UnspecifiedMatching -OMIM:619342 PGAP6 skos:exactMatch ncbigene:58986 semapv:UnspecifiedMatching -OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:30209 semapv:UnspecifiedMatching -OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:PCP2 semapv:UnspecifiedMatching -OMIM:619344 PCP2 skos:exactMatch ncbigene:126006 semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch hgnc.symbol:31853 semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch hgnc.symbol:ADAL semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching -OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CFAP184 semapv:UnspecifiedMatching -OMIM:619347 CCDC96 skos:exactMatch ncbigene:257236 semapv:UnspecifiedMatching -OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:26812 semapv:UnspecifiedMatching -OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:ANKLE1 semapv:UnspecifiedMatching -OMIM:619348 ANKLE1 skos:exactMatch ncbigene:126549 semapv:UnspecifiedMatching -OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:21314 semapv:UnspecifiedMatching -OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:COPS9 semapv:UnspecifiedMatching -OMIM:619349 COPS9 skos:exactMatch ncbigene:150678 semapv:UnspecifiedMatching -OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:14446 semapv:UnspecifiedMatching -OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:PARD3B semapv:UnspecifiedMatching -OMIM:619353 PARD3B skos:exactMatch ncbigene:117583 semapv:UnspecifiedMatching -OMIM:619357 AK6 skos:exactMatch hgnc.symbol:49151 semapv:UnspecifiedMatching -OMIM:619357 AK6 skos:exactMatch hgnc.symbol:AK6 semapv:UnspecifiedMatching -OMIM:619357 AK6 skos:exactMatch ncbigene:102157402 semapv:UnspecifiedMatching -OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:20595 semapv:UnspecifiedMatching -OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:MTUS2 semapv:UnspecifiedMatching -OMIM:619358 MTUS2 skos:exactMatch ncbigene:23281 semapv:UnspecifiedMatching -OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:13746 semapv:UnspecifiedMatching -OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:BRINP2 semapv:UnspecifiedMatching -OMIM:619359 BRINP2 skos:exactMatch ncbigene:57795 semapv:UnspecifiedMatching -OMIM:619364 TATDN1 skos:exactMatch hgnc.symbol:24220 semapv:UnspecifiedMatching -OMIM:619364 TATDN1 skos:exactMatch hgnc.symbol:TATDN1 semapv:UnspecifiedMatching -OMIM:619364 TATDN1 skos:exactMatch ncbigene:83940 semapv:UnspecifiedMatching -OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:20419 semapv:UnspecifiedMatching -OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:LRRC14 semapv:UnspecifiedMatching -OMIM:619368 LRRC14 skos:exactMatch ncbigene:9684 semapv:UnspecifiedMatching -OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:29145 semapv:UnspecifiedMatching -OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:KHDC4 semapv:UnspecifiedMatching -OMIM:619370 KHDC4 skos:exactMatch ncbigene:22889 semapv:UnspecifiedMatching -OMIM:619372 URB2 skos:exactMatch hgnc.symbol:28967 semapv:UnspecifiedMatching -OMIM:619372 URB2 skos:exactMatch hgnc.symbol:URB2 semapv:UnspecifiedMatching -OMIM:619372 URB2 skos:exactMatch ncbigene:9816 semapv:UnspecifiedMatching -OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:32621 semapv:UnspecifiedMatching -OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:SNORA31 semapv:UnspecifiedMatching -OMIM:619378 SNORA31 skos:exactMatch ncbigene:677814 semapv:UnspecifiedMatching -OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:29014 semapv:UnspecifiedMatching -OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:ZBTB39 semapv:UnspecifiedMatching -OMIM:619384 ZBTB39 skos:exactMatch ncbigene:9880 semapv:UnspecifiedMatching -OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:29161 semapv:UnspecifiedMatching -OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:ZNF510 semapv:UnspecifiedMatching -OMIM:619385 ZNF510 skos:exactMatch ncbigene:22869 semapv:UnspecifiedMatching -OMIM:619387 CATIP skos:exactMatch hgnc.symbol:25062 semapv:UnspecifiedMatching -OMIM:619387 CATIP skos:exactMatch hgnc.symbol:CATIP semapv:UnspecifiedMatching -OMIM:619387 CATIP skos:exactMatch ncbigene:375307 semapv:UnspecifiedMatching -OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:25596 semapv:UnspecifiedMatching -OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:TTC17 semapv:UnspecifiedMatching -OMIM:619388 TTC17 skos:exactMatch ncbigene:55761 semapv:UnspecifiedMatching -OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:14670 semapv:UnspecifiedMatching -OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:COL20A1 semapv:UnspecifiedMatching -OMIM:619390 COL20A1 skos:exactMatch ncbigene:57642 semapv:UnspecifiedMatching -OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:33854 semapv:UnspecifiedMatching -OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:CCDC157 semapv:UnspecifiedMatching -OMIM:619391 CCDC157 skos:exactMatch ncbigene:550631 semapv:UnspecifiedMatching -OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:33795 semapv:UnspecifiedMatching -OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:C14orf180 semapv:UnspecifiedMatching -OMIM:619392 C14ORF180 skos:exactMatch ncbigene:400258 semapv:UnspecifiedMatching -OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:21751 semapv:UnspecifiedMatching -OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:KBTBD2 semapv:UnspecifiedMatching -OMIM:619393 KBTBD2 skos:exactMatch ncbigene:25948 semapv:UnspecifiedMatching -OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:25891 semapv:UnspecifiedMatching -OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:CBR4 semapv:UnspecifiedMatching -OMIM:619394 CBR4 skos:exactMatch ncbigene:84869 semapv:UnspecifiedMatching -OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:17940 semapv:UnspecifiedMatching -OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:MYEF2 semapv:UnspecifiedMatching -OMIM:619395 MYEF2 skos:exactMatch ncbigene:50804 semapv:UnspecifiedMatching -OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:12868 semapv:UnspecifiedMatching -OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:ZFPL1 semapv:UnspecifiedMatching -OMIM:619397 ZFPL1 skos:exactMatch ncbigene:7542 semapv:UnspecifiedMatching -OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:20660 semapv:UnspecifiedMatching -OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:TSPAN18 semapv:UnspecifiedMatching -OMIM:619399 TSPAN18 skos:exactMatch ncbigene:90139 semapv:UnspecifiedMatching -OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:47044 semapv:UnspecifiedMatching -OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:CCAT2 semapv:UnspecifiedMatching -OMIM:619403 CCAT2 skos:exactMatch ncbigene:101805488 semapv:UnspecifiedMatching -OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:26070 semapv:UnspecifiedMatching -OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:TRMT61B semapv:UnspecifiedMatching -OMIM:619404 TRMT61B skos:exactMatch ncbigene:55006 semapv:UnspecifiedMatching -OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:27316 semapv:UnspecifiedMatching -OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:TRIM65 semapv:UnspecifiedMatching -OMIM:619408 TRIM65 skos:exactMatch ncbigene:201292 semapv:UnspecifiedMatching -OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:21256 semapv:UnspecifiedMatching -OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:TSPO2 semapv:UnspecifiedMatching -OMIM:619409 TSPO2 skos:exactMatch ncbigene:222642 semapv:UnspecifiedMatching -OMIM:619410 TTLL12 skos:exactMatch hgnc.symbol:28974 semapv:UnspecifiedMatching -OMIM:619410 TTLL12 skos:exactMatch hgnc.symbol:TTLL12 semapv:UnspecifiedMatching -OMIM:619410 TTLL12 skos:exactMatch ncbigene:23170 semapv:UnspecifiedMatching -OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:28962 semapv:UnspecifiedMatching -OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:SPCS2 semapv:UnspecifiedMatching -OMIM:619411 SPCS2 skos:exactMatch ncbigene:9789 semapv:UnspecifiedMatching -OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:29032 semapv:UnspecifiedMatching -OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:SEC14L5 semapv:UnspecifiedMatching -OMIM:619412 SEC14L5 skos:exactMatch ncbigene:9717 semapv:UnspecifiedMatching -OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:29072 semapv:UnspecifiedMatching -OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:CCDC144A semapv:UnspecifiedMatching -OMIM:619413 CCDC144A skos:exactMatch ncbigene:9720 semapv:UnspecifiedMatching -OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:29510 semapv:UnspecifiedMatching -OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:MTFR1 semapv:UnspecifiedMatching -OMIM:619414 MTFR1 skos:exactMatch ncbigene:9650 semapv:UnspecifiedMatching -OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:19140 semapv:UnspecifiedMatching -OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:TTBK1 semapv:UnspecifiedMatching -OMIM:619415 TTBK1 skos:exactMatch ncbigene:84630 semapv:UnspecifiedMatching -OMIM:619416 TRIM60 skos:exactMatch hgnc.symbol:21162 semapv:UnspecifiedMatching -OMIM:619416 TRIM60 skos:exactMatch hgnc.symbol:TRIM60 semapv:UnspecifiedMatching -OMIM:619416 TRIM60 skos:exactMatch ncbigene:166655 semapv:UnspecifiedMatching -OMIM:619417 TRIM61 skos:exactMatch hgnc.symbol:24339 semapv:UnspecifiedMatching -OMIM:619417 TRIM61 skos:exactMatch hgnc.symbol:TRIM61 semapv:UnspecifiedMatching -OMIM:619417 TRIM61 skos:exactMatch ncbigene:391712 semapv:UnspecifiedMatching -OMIM:619419 NACAD skos:exactMatch hgnc.symbol:22196 semapv:UnspecifiedMatching -OMIM:619419 NACAD skos:exactMatch hgnc.symbol:NACAD semapv:UnspecifiedMatching -OMIM:619419 NACAD skos:exactMatch ncbigene:23148 semapv:UnspecifiedMatching -OMIM:619421 DYNAP skos:exactMatch hgnc.symbol:26808 semapv:UnspecifiedMatching -OMIM:619421 DYNAP skos:exactMatch hgnc.symbol:DYNAP semapv:UnspecifiedMatching -OMIM:619421 DYNAP skos:exactMatch ncbigene:284254 semapv:UnspecifiedMatching -OMIM:619427 ZNF410 skos:exactMatch hgnc.symbol:20144 semapv:UnspecifiedMatching -OMIM:619427 ZNF410 skos:exactMatch hgnc.symbol:ZNF410 semapv:UnspecifiedMatching -OMIM:619427 ZNF410 skos:exactMatch ncbigene:57862 semapv:UnspecifiedMatching -OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:24239 semapv:UnspecifiedMatching -OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:TMCC2 semapv:UnspecifiedMatching -OMIM:619429 TMCC2 skos:exactMatch ncbigene:9911 semapv:UnspecifiedMatching -OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:16130 semapv:UnspecifiedMatching -OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:SPINT4 semapv:UnspecifiedMatching -OMIM:619430 SPINT4 skos:exactMatch ncbigene:391253 semapv:UnspecifiedMatching -OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:28125 semapv:UnspecifiedMatching -OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:NAA11 semapv:UnspecifiedMatching -OMIM:619432 NAA11 skos:exactMatch ncbigene:84779 semapv:UnspecifiedMatching -OMIM:619434 SUCO skos:exactMatch hgnc.symbol:1240 semapv:UnspecifiedMatching -OMIM:619434 SUCO skos:exactMatch hgnc.symbol:SUCO semapv:UnspecifiedMatching -OMIM:619434 SUCO skos:exactMatch ncbigene:51430 semapv:UnspecifiedMatching -OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:24340 semapv:UnspecifiedMatching -OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:NAA35 semapv:UnspecifiedMatching -OMIM:619438 NAA35 skos:exactMatch ncbigene:60560 semapv:UnspecifiedMatching -OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:26921 semapv:UnspecifiedMatching -OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:PARP6 semapv:UnspecifiedMatching -OMIM:619439 PARP6 skos:exactMatch ncbigene:56965 semapv:UnspecifiedMatching -OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:26154 semapv:UnspecifiedMatching -OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:QSER1 semapv:UnspecifiedMatching -OMIM:619440 QSER1 skos:exactMatch ncbigene:79832 semapv:UnspecifiedMatching -OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:15530 semapv:UnspecifiedMatching -OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:TULP4 semapv:UnspecifiedMatching -OMIM:619442 TULP4 skos:exactMatch ncbigene:56995 semapv:UnspecifiedMatching -OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:29537 semapv:UnspecifiedMatching -OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:MEIS3 semapv:UnspecifiedMatching -OMIM:619443 MEIS3 skos:exactMatch ncbigene:56917 semapv:UnspecifiedMatching -OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:26533 semapv:UnspecifiedMatching -OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:CCDC7 semapv:UnspecifiedMatching -OMIM:619444 CCDC7 skos:exactMatch ncbigene:79741 semapv:UnspecifiedMatching -OMIM:619447 FAM189B skos:exactMatch hgnc.symbol:ENTREP3 semapv:UnspecifiedMatching -OMIM:619447 FAM189B skos:exactMatch ncbigene:10712 semapv:UnspecifiedMatching -OMIM:619448 SRARP skos:exactMatch hgnc.symbol:28339 semapv:UnspecifiedMatching -OMIM:619448 SRARP skos:exactMatch hgnc.symbol:SRARP semapv:UnspecifiedMatching -OMIM:619448 SRARP skos:exactMatch ncbigene:149563 semapv:UnspecifiedMatching -OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:24286 semapv:UnspecifiedMatching -OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:RRP7A semapv:UnspecifiedMatching -OMIM:619449 RRP7A skos:exactMatch ncbigene:27341 semapv:UnspecifiedMatching -OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:33643 semapv:UnspecifiedMatching -OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:MIR874 semapv:UnspecifiedMatching -OMIM:619450 MIR874 skos:exactMatch ncbigene:100126343 semapv:UnspecifiedMatching -OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:20457 semapv:UnspecifiedMatching -OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:RNF144A semapv:UnspecifiedMatching -OMIM:619454 RNF144A skos:exactMatch ncbigene:9781 semapv:UnspecifiedMatching -OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:23664 semapv:UnspecifiedMatching -OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:SH3PXD2A semapv:UnspecifiedMatching -OMIM:619455 SH3PXD2A skos:exactMatch ncbigene:9644 semapv:UnspecifiedMatching -OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:17719 semapv:UnspecifiedMatching -OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:CDC42SE1 semapv:UnspecifiedMatching -OMIM:619456 CDC42SE1 skos:exactMatch ncbigene:56882 semapv:UnspecifiedMatching -OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:18547 semapv:UnspecifiedMatching -OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:CDC42SE2 semapv:UnspecifiedMatching -OMIM:619457 CDC42SE2 skos:exactMatch ncbigene:56990 semapv:UnspecifiedMatching -OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:20445 semapv:UnspecifiedMatching -OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:MBD6 semapv:UnspecifiedMatching -OMIM:619458 MBD6 skos:exactMatch ncbigene:114785 semapv:UnspecifiedMatching -OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:29027 semapv:UnspecifiedMatching -OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:ZZEF1 semapv:UnspecifiedMatching -OMIM:619459 ZZEF1 skos:exactMatch ncbigene:23140 semapv:UnspecifiedMatching -OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:25363 semapv:UnspecifiedMatching -OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:TMEM222 semapv:UnspecifiedMatching -OMIM:619469 TMEM222 skos:exactMatch ncbigene:84065 semapv:UnspecifiedMatching -OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:9757 semapv:UnspecifiedMatching -OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:R3HDM1 semapv:UnspecifiedMatching -OMIM:619474 R3HDM1 skos:exactMatch ncbigene:23518 semapv:UnspecifiedMatching -OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:14615 semapv:UnspecifiedMatching -OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:PAPPA2 semapv:UnspecifiedMatching -OMIM:619485 PAPPA2 skos:exactMatch ncbigene:60676 semapv:UnspecifiedMatching -OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:25287 semapv:UnspecifiedMatching -OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:LMBRD2 semapv:UnspecifiedMatching -OMIM:619490 LMBRD2 skos:exactMatch ncbigene:92255 semapv:UnspecifiedMatching -OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:25046 semapv:UnspecifiedMatching -OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:SNHG11 semapv:UnspecifiedMatching -OMIM:619494 SNHG11 skos:exactMatch ncbigene:128439 semapv:UnspecifiedMatching -OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:196 semapv:UnspecifiedMatching -OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:ADAM18 semapv:UnspecifiedMatching -OMIM:619495 ADAM18 skos:exactMatch ncbigene:8749 semapv:UnspecifiedMatching -OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:16838 semapv:UnspecifiedMatching -OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:ZNF358 semapv:UnspecifiedMatching -OMIM:619496 ZNF358 skos:exactMatch ncbigene:140467 semapv:UnspecifiedMatching -OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:26164 semapv:UnspecifiedMatching -OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:NAA16 semapv:UnspecifiedMatching -OMIM:619497 NAA16 skos:exactMatch ncbigene:79612 semapv:UnspecifiedMatching -OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:17808 semapv:UnspecifiedMatching -OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:ZC3H4 semapv:UnspecifiedMatching -OMIM:619498 ZC3H4 skos:exactMatch ncbigene:23211 semapv:UnspecifiedMatching -OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:18609 semapv:UnspecifiedMatching -OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:ZNF383 semapv:UnspecifiedMatching -OMIM:619499 ZNF383 skos:exactMatch ncbigene:163087 semapv:UnspecifiedMatching -OMIM:619502 C9ORF24 skos:exactMatch hgnc.symbol:SPMIP6 semapv:UnspecifiedMatching -OMIM:619502 C9ORF24 skos:exactMatch ncbigene:84688 semapv:UnspecifiedMatching -OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:20809 semapv:UnspecifiedMatching -OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:ZNF431 semapv:UnspecifiedMatching -OMIM:619505 ZNF431 skos:exactMatch ncbigene:170959 semapv:UnspecifiedMatching -OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:20636 semapv:UnspecifiedMatching -OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:ZNF415 semapv:UnspecifiedMatching -OMIM:619506 ZNF415 skos:exactMatch ncbigene:55786 semapv:UnspecifiedMatching -OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:20690 semapv:UnspecifiedMatching -OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:ZNF425 semapv:UnspecifiedMatching -OMIM:619507 ZNF425 skos:exactMatch ncbigene:155054 semapv:UnspecifiedMatching -OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:21018 semapv:UnspecifiedMatching -OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:ZNF445 semapv:UnspecifiedMatching -OMIM:619508 ZNF445 skos:exactMatch ncbigene:353274 semapv:UnspecifiedMatching -OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:20647 semapv:UnspecifiedMatching -OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:ZNF418 semapv:UnspecifiedMatching -OMIM:619509 ZNF418 skos:exactMatch ncbigene:147686 semapv:UnspecifiedMatching -OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:16736 semapv:UnspecifiedMatching -OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:ZNF354C semapv:UnspecifiedMatching -OMIM:619511 ZNF354C skos:exactMatch ncbigene:30832 semapv:UnspecifiedMatching -OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:16785 semapv:UnspecifiedMatching -OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:SWT1 semapv:UnspecifiedMatching -OMIM:619513 SWT1 skos:exactMatch ncbigene:54823 semapv:UnspecifiedMatching -OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:16788 semapv:UnspecifiedMatching -OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:SHCBP1L semapv:UnspecifiedMatching -OMIM:619514 SHCBP1L skos:exactMatch ncbigene:81626 semapv:UnspecifiedMatching -OMIM:619516 BFAR skos:exactMatch hgnc.symbol:17613 semapv:UnspecifiedMatching -OMIM:619516 BFAR skos:exactMatch hgnc.symbol:BFAR semapv:UnspecifiedMatching -OMIM:619516 BFAR skos:exactMatch ncbigene:51283 semapv:UnspecifiedMatching -OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:28200 semapv:UnspecifiedMatching -OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:ZNF764 semapv:UnspecifiedMatching -OMIM:619524 ZNF764 skos:exactMatch ncbigene:92595 semapv:UnspecifiedMatching -OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:24992 semapv:UnspecifiedMatching -OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:ZNF706 semapv:UnspecifiedMatching -OMIM:619526 ZNF706 skos:exactMatch ncbigene:51123 semapv:UnspecifiedMatching -OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:21185 semapv:UnspecifiedMatching -OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:PNLDC1 semapv:UnspecifiedMatching -OMIM:619529 PNLDC1 skos:exactMatch ncbigene:154197 semapv:UnspecifiedMatching -OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:17117 semapv:UnspecifiedMatching -OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:SLC35C2 semapv:UnspecifiedMatching -OMIM:619530 SLC35C2 skos:exactMatch ncbigene:51006 semapv:UnspecifiedMatching -OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:30714 semapv:UnspecifiedMatching -OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:ADAD2 semapv:UnspecifiedMatching -OMIM:619532 ADAD2 skos:exactMatch ncbigene:161931 semapv:UnspecifiedMatching -OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:16271 semapv:UnspecifiedMatching -OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:RAD21L1 semapv:UnspecifiedMatching -OMIM:619533 RAD21L1 skos:exactMatch ncbigene:642636 semapv:UnspecifiedMatching -OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:18154 semapv:UnspecifiedMatching -OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:RNF115 semapv:UnspecifiedMatching -OMIM:619535 RNF115 skos:exactMatch ncbigene:27246 semapv:UnspecifiedMatching -OMIM:619536 USP31 skos:exactMatch hgnc.symbol:20060 semapv:UnspecifiedMatching -OMIM:619536 USP31 skos:exactMatch hgnc.symbol:USP31 semapv:UnspecifiedMatching -OMIM:619536 USP31 skos:exactMatch ncbigene:57478 semapv:UnspecifiedMatching -OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:19961 semapv:UnspecifiedMatching -OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:ANGEL1 semapv:UnspecifiedMatching -OMIM:619537 ANGEL1 skos:exactMatch ncbigene:23357 semapv:UnspecifiedMatching -OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:14943 semapv:UnspecifiedMatching -OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:PPP1R3E semapv:UnspecifiedMatching -OMIM:619540 PPP1R3E skos:exactMatch ncbigene:90673 semapv:UnspecifiedMatching -OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:14945 semapv:UnspecifiedMatching -OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:PPP1R3G semapv:UnspecifiedMatching -OMIM:619541 PPP1R3G skos:exactMatch ncbigene:648791 semapv:UnspecifiedMatching -OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:28121 semapv:UnspecifiedMatching -OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:PRRC2B semapv:UnspecifiedMatching -OMIM:619544 PRRC2B skos:exactMatch ncbigene:84726 semapv:UnspecifiedMatching -OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:14993 semapv:UnspecifiedMatching -OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:OR10J5 semapv:UnspecifiedMatching -OMIM:619546 OR10J5 skos:exactMatch ncbigene:127385 semapv:UnspecifiedMatching -OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:20150 semapv:UnspecifiedMatching -OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:RAB15 semapv:UnspecifiedMatching -OMIM:619547 RAB15 skos:exactMatch ncbigene:376267 semapv:UnspecifiedMatching -OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:18284 semapv:UnspecifiedMatching -OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:RAB40B semapv:UnspecifiedMatching -OMIM:619550 RAB40B skos:exactMatch ncbigene:10966 semapv:UnspecifiedMatching -OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:18285 semapv:UnspecifiedMatching -OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:RAB40C semapv:UnspecifiedMatching -OMIM:619551 RAB40C skos:exactMatch ncbigene:57799 semapv:UnspecifiedMatching -OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:25504 semapv:UnspecifiedMatching -OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:MAGOHB semapv:UnspecifiedMatching -OMIM:619552 MAGOHB skos:exactMatch ncbigene:55110 semapv:UnspecifiedMatching -OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:29788 semapv:UnspecifiedMatching -OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:MTIF3 semapv:UnspecifiedMatching -OMIM:619554 MTIF3 skos:exactMatch ncbigene:219402 semapv:UnspecifiedMatching -OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:16521 semapv:UnspecifiedMatching -OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:RAB39A semapv:UnspecifiedMatching -OMIM:619558 RAB39A skos:exactMatch ncbigene:54734 semapv:UnspecifiedMatching -OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:29051 semapv:UnspecifiedMatching -OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:EFCAB14 semapv:UnspecifiedMatching -OMIM:619559 EFCAB14 skos:exactMatch ncbigene:9813 semapv:UnspecifiedMatching -OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:31760 semapv:UnspecifiedMatching -OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:MIR135B semapv:UnspecifiedMatching -OMIM:619560 MIR135B skos:exactMatch ncbigene:442891 semapv:UnspecifiedMatching -OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:29804 semapv:UnspecifiedMatching -OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:MICALL1 semapv:UnspecifiedMatching -OMIM:619563 MICALL1 skos:exactMatch ncbigene:85377 semapv:UnspecifiedMatching -OMIM:619564 CLXN skos:exactMatch hgnc.symbol:25678 semapv:UnspecifiedMatching -OMIM:619564 CLXN skos:exactMatch hgnc.symbol:CLXN semapv:UnspecifiedMatching -OMIM:619564 CLXN skos:exactMatch ncbigene:79645 semapv:UnspecifiedMatching -OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:26379 semapv:UnspecifiedMatching -OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:EFCAB3 semapv:UnspecifiedMatching -OMIM:619567 EFCAB3 skos:exactMatch ncbigene:146779 semapv:UnspecifiedMatching -OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:29129 semapv:UnspecifiedMatching -OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:ENDOD1 semapv:UnspecifiedMatching -OMIM:619568 ENDOD1 skos:exactMatch ncbigene:23052 semapv:UnspecifiedMatching -OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:24932 semapv:UnspecifiedMatching -OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:C9orf78 semapv:UnspecifiedMatching -OMIM:619569 C9ORF78 skos:exactMatch ncbigene:51759 semapv:UnspecifiedMatching -OMIM:619570 UHRF1BP1 skos:exactMatch hgnc.symbol:BLTP3A semapv:UnspecifiedMatching -OMIM:619570 UHRF1BP1 skos:exactMatch ncbigene:54887 semapv:UnspecifiedMatching -OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:25970 semapv:UnspecifiedMatching -OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:ANKRD49 semapv:UnspecifiedMatching -OMIM:619571 ANKRD49 skos:exactMatch ncbigene:54851 semapv:UnspecifiedMatching -OMIM:619572 MIR15B skos:exactMatch hgnc.symbol:31544 semapv:UnspecifiedMatching -OMIM:619572 MIR15B skos:exactMatch hgnc.symbol:MIR15B semapv:UnspecifiedMatching -OMIM:619572 MIR15B skos:exactMatch ncbigene:406949 semapv:UnspecifiedMatching -OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:15948 semapv:UnspecifiedMatching -OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:ZGPAT semapv:UnspecifiedMatching -OMIM:619577 ZGPAT skos:exactMatch ncbigene:84619 semapv:UnspecifiedMatching -OMIM:619578 AFG2B skos:exactMatch hgnc.symbol:AFG2B semapv:UnspecifiedMatching -OMIM:619578 AFG2B skos:exactMatch ncbigene:79029 semapv:UnspecifiedMatching -OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:20166 semapv:UnspecifiedMatching -OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:KHNYN semapv:UnspecifiedMatching -OMIM:619579 KHNYN skos:exactMatch ncbigene:23351 semapv:UnspecifiedMatching -OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:29196 semapv:UnspecifiedMatching -OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:SLC45A4 semapv:UnspecifiedMatching -OMIM:619581 SLC45A4 skos:exactMatch ncbigene:57210 semapv:UnspecifiedMatching -OMIM:619583 EHBP1L1 skos:exactMatch hgnc.symbol:30682 semapv:UnspecifiedMatching -OMIM:619583 EHBP1L1 skos:exactMatch hgnc.symbol:EHBP1L1 semapv:UnspecifiedMatching -OMIM:619583 EHBP1L1 skos:exactMatch ncbigene:254102 semapv:UnspecifiedMatching -OMIM:619584 WSCD1 skos:exactMatch hgnc.symbol:29060 semapv:UnspecifiedMatching -OMIM:619584 WSCD1 skos:exactMatch hgnc.symbol:WSCD1 semapv:UnspecifiedMatching -OMIM:619584 WSCD1 skos:exactMatch ncbigene:23302 semapv:UnspecifiedMatching -OMIM:619586 TSPYL4 skos:exactMatch hgnc.symbol:21559 semapv:UnspecifiedMatching -OMIM:619586 TSPYL4 skos:exactMatch hgnc.symbol:TSPYL4 semapv:UnspecifiedMatching -OMIM:619586 TSPYL4 skos:exactMatch ncbigene:23270 semapv:UnspecifiedMatching -OMIM:619587 ZNF629 skos:exactMatch hgnc.symbol:29008 semapv:UnspecifiedMatching -OMIM:619587 ZNF629 skos:exactMatch hgnc.symbol:ZNF629 semapv:UnspecifiedMatching -OMIM:619587 ZNF629 skos:exactMatch ncbigene:23361 semapv:UnspecifiedMatching -OMIM:619589 BANCR skos:exactMatch hgnc.symbol:43877 semapv:UnspecifiedMatching -OMIM:619589 BANCR skos:exactMatch hgnc.symbol:BANCR semapv:UnspecifiedMatching -OMIM:619589 BANCR skos:exactMatch ncbigene:100885775 semapv:UnspecifiedMatching -OMIM:619590 PLPPR1 skos:exactMatch hgnc.symbol:25993 semapv:UnspecifiedMatching -OMIM:619590 PLPPR1 skos:exactMatch hgnc.symbol:PLPPR1 semapv:UnspecifiedMatching -OMIM:619590 PLPPR1 skos:exactMatch ncbigene:54886 semapv:UnspecifiedMatching -OMIM:619591 PLPPR2 skos:exactMatch hgnc.symbol:29566 semapv:UnspecifiedMatching -OMIM:619591 PLPPR2 skos:exactMatch hgnc.symbol:PLPPR2 semapv:UnspecifiedMatching -OMIM:619591 PLPPR2 skos:exactMatch ncbigene:64748 semapv:UnspecifiedMatching -OMIM:619596 OCIAD1 skos:exactMatch hgnc.symbol:16074 semapv:UnspecifiedMatching -OMIM:619596 OCIAD1 skos:exactMatch hgnc.symbol:OCIAD1 semapv:UnspecifiedMatching -OMIM:619596 OCIAD1 skos:exactMatch ncbigene:54940 semapv:UnspecifiedMatching -OMIM:619597 TRNAU1AP skos:exactMatch hgnc.symbol:30813 semapv:UnspecifiedMatching -OMIM:619597 TRNAU1AP skos:exactMatch hgnc.symbol:TRNAU1AP semapv:UnspecifiedMatching -OMIM:619597 TRNAU1AP skos:exactMatch ncbigene:54952 semapv:UnspecifiedMatching -OMIM:619600 AOPEP skos:exactMatch hgnc.symbol:1361 semapv:UnspecifiedMatching -OMIM:619600 AOPEP skos:exactMatch hgnc.symbol:AOPEP semapv:UnspecifiedMatching -OMIM:619600 AOPEP skos:exactMatch ncbigene:84909 semapv:UnspecifiedMatching -OMIM:619601 BCDIN3D skos:exactMatch hgnc.symbol:27050 semapv:UnspecifiedMatching -OMIM:619601 BCDIN3D skos:exactMatch hgnc.symbol:BCDIN3D semapv:UnspecifiedMatching -OMIM:619601 BCDIN3D skos:exactMatch ncbigene:144233 semapv:UnspecifiedMatching -OMIM:619604 TMEM92 skos:exactMatch hgnc.symbol:26579 semapv:UnspecifiedMatching -OMIM:619604 TMEM92 skos:exactMatch hgnc.symbol:TMEM92 semapv:UnspecifiedMatching -OMIM:619604 TMEM92 skos:exactMatch ncbigene:162461 semapv:UnspecifiedMatching -OMIM:619610 KIF19 skos:exactMatch hgnc.symbol:26735 semapv:UnspecifiedMatching -OMIM:619610 KIF19 skos:exactMatch hgnc.symbol:KIF19 semapv:UnspecifiedMatching -OMIM:619610 KIF19 skos:exactMatch ncbigene:124602 semapv:UnspecifiedMatching -OMIM:619612 BCAP29 skos:exactMatch hgnc.symbol:24131 semapv:UnspecifiedMatching -OMIM:619612 BCAP29 skos:exactMatch hgnc.symbol:BCAP29 semapv:UnspecifiedMatching -OMIM:619612 BCAP29 skos:exactMatch ncbigene:55973 semapv:UnspecifiedMatching -OMIM:619617 EFCAB2 skos:exactMatch hgnc.symbol:28166 semapv:UnspecifiedMatching -OMIM:619617 EFCAB2 skos:exactMatch hgnc.symbol:EFCAB2 semapv:UnspecifiedMatching -OMIM:619617 EFCAB2 skos:exactMatch ncbigene:84288 semapv:UnspecifiedMatching -OMIM:619618 LYPD5 skos:exactMatch hgnc.symbol:26397 semapv:UnspecifiedMatching -OMIM:619618 LYPD5 skos:exactMatch hgnc.symbol:LYPD5 semapv:UnspecifiedMatching -OMIM:619618 LYPD5 skos:exactMatch ncbigene:284348 semapv:UnspecifiedMatching -OMIM:619619 SERPINA11 skos:exactMatch hgnc.symbol:19193 semapv:UnspecifiedMatching -OMIM:619619 SERPINA11 skos:exactMatch hgnc.symbol:SERPINA11 semapv:UnspecifiedMatching -OMIM:619619 SERPINA11 skos:exactMatch ncbigene:256394 semapv:UnspecifiedMatching -OMIM:619620 CTRB2 skos:exactMatch hgnc.symbol:2522 semapv:UnspecifiedMatching -OMIM:619620 CTRB2 skos:exactMatch hgnc.symbol:CTRB2 semapv:UnspecifiedMatching -OMIM:619620 CTRB2 skos:exactMatch ncbigene:440387 semapv:UnspecifiedMatching -OMIM:619622 LAX1 skos:exactMatch hgnc.symbol:26005 semapv:UnspecifiedMatching -OMIM:619622 LAX1 skos:exactMatch hgnc.symbol:LAX1 semapv:UnspecifiedMatching -OMIM:619622 LAX1 skos:exactMatch ncbigene:54900 semapv:UnspecifiedMatching -OMIM:619623 LRRN1 skos:exactMatch hgnc.symbol:20980 semapv:UnspecifiedMatching -OMIM:619623 LRRN1 skos:exactMatch hgnc.symbol:LRRN1 semapv:UnspecifiedMatching -OMIM:619623 LRRN1 skos:exactMatch ncbigene:57633 semapv:UnspecifiedMatching -OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:19295 semapv:UnspecifiedMatching -OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:LMTK3 semapv:UnspecifiedMatching -OMIM:619624 LMTK3 skos:exactMatch ncbigene:114783 semapv:UnspecifiedMatching -OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:16990 semapv:UnspecifiedMatching -OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:C11orf58 semapv:UnspecifiedMatching -OMIM:619625 C11ORF58 skos:exactMatch ncbigene:10944 semapv:UnspecifiedMatching -OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:24726 semapv:UnspecifiedMatching -OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:METTL4 semapv:UnspecifiedMatching -OMIM:619626 METTL4 skos:exactMatch ncbigene:64863 semapv:UnspecifiedMatching -OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:29273 semapv:UnspecifiedMatching -OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:HEATR5B semapv:UnspecifiedMatching -OMIM:619627 HEATR5B skos:exactMatch ncbigene:54497 semapv:UnspecifiedMatching -OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:25951 semapv:UnspecifiedMatching -OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:AFTPH semapv:UnspecifiedMatching -OMIM:619628 AFTPH skos:exactMatch ncbigene:54812 semapv:UnspecifiedMatching -OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:30240 semapv:UnspecifiedMatching -OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:SNRNP27 semapv:UnspecifiedMatching -OMIM:619629 SNRNP27 skos:exactMatch ncbigene:11017 semapv:UnspecifiedMatching -OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:30852 semapv:UnspecifiedMatching -OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:SNRNP35 semapv:UnspecifiedMatching -OMIM:619631 SNRNP35 skos:exactMatch ncbigene:11066 semapv:UnspecifiedMatching -OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:28685 semapv:UnspecifiedMatching -OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:OCIAD2 semapv:UnspecifiedMatching -OMIM:619633 OCIAD2 skos:exactMatch ncbigene:132299 semapv:UnspecifiedMatching -OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:23075 semapv:UnspecifiedMatching -OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:OSGEPL1 semapv:UnspecifiedMatching -OMIM:619634 OSGEPL1 skos:exactMatch ncbigene:64172 semapv:UnspecifiedMatching -OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:20758 semapv:UnspecifiedMatching -OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:ZFYVE19 semapv:UnspecifiedMatching -OMIM:619635 ZFYVE19 skos:exactMatch ncbigene:84936 semapv:UnspecifiedMatching -OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:22224 semapv:UnspecifiedMatching -OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:KDM7A semapv:UnspecifiedMatching -OMIM:619640 KDM7A skos:exactMatch ncbigene:80853 semapv:UnspecifiedMatching -OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:16996 semapv:UnspecifiedMatching -OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:TMED2 semapv:UnspecifiedMatching -OMIM:619642 TMED2 skos:exactMatch ncbigene:10959 semapv:UnspecifiedMatching -OMIM:619650 VHLL skos:exactMatch hgnc.symbol:30666 semapv:UnspecifiedMatching -OMIM:619650 VHLL skos:exactMatch hgnc.symbol:VHLL semapv:UnspecifiedMatching -OMIM:619650 VHLL skos:exactMatch ncbigene:391104 semapv:UnspecifiedMatching -OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:26434 semapv:UnspecifiedMatching -OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:C3orf33 semapv:UnspecifiedMatching -OMIM:619654 C3ORF33 skos:exactMatch ncbigene:285315 semapv:UnspecifiedMatching -OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:17976 semapv:UnspecifiedMatching -OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:RPL10L semapv:UnspecifiedMatching -OMIM:619655 RPL10L skos:exactMatch ncbigene:140801 semapv:UnspecifiedMatching -OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:30669 semapv:UnspecifiedMatching -OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:SNAP47 semapv:UnspecifiedMatching -OMIM:619659 SNAP47 skos:exactMatch ncbigene:116841 semapv:UnspecifiedMatching -OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:33624 semapv:UnspecifiedMatching -OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:BCL2L15 semapv:UnspecifiedMatching -OMIM:619660 BCL2L15 skos:exactMatch ncbigene:440603 semapv:UnspecifiedMatching -OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:28440 semapv:UnspecifiedMatching -OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:UTP25 semapv:UnspecifiedMatching -OMIM:619663 UTP25 skos:exactMatch ncbigene:27042 semapv:UnspecifiedMatching -OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:24204 semapv:UnspecifiedMatching -OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:EFCAB6 semapv:UnspecifiedMatching -OMIM:619664 EFCAB6 skos:exactMatch ncbigene:64800 semapv:UnspecifiedMatching -OMIM:619666 VILL skos:exactMatch hgnc.symbol:30906 semapv:UnspecifiedMatching -OMIM:619666 VILL skos:exactMatch hgnc.symbol:VILL semapv:UnspecifiedMatching -OMIM:619666 VILL skos:exactMatch ncbigene:50853 semapv:UnspecifiedMatching -OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:26055 semapv:UnspecifiedMatching -OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:SLC35F6 semapv:UnspecifiedMatching -OMIM:619667 SLC35F6 skos:exactMatch ncbigene:54978 semapv:UnspecifiedMatching -OMIM:619668 DERA skos:exactMatch hgnc.symbol:24269 semapv:UnspecifiedMatching -OMIM:619668 DERA skos:exactMatch hgnc.symbol:DERA semapv:UnspecifiedMatching -OMIM:619668 DERA skos:exactMatch ncbigene:51071 semapv:UnspecifiedMatching -OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:44654 semapv:UnspecifiedMatching -OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:PIERCE2 semapv:UnspecifiedMatching -OMIM:619669 PIERCE2 skos:exactMatch ncbigene:145788 semapv:UnspecifiedMatching -OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:33775 semapv:UnspecifiedMatching -OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:ALKAL1 semapv:UnspecifiedMatching -OMIM:619670 ALKAL1 skos:exactMatch ncbigene:389658 semapv:UnspecifiedMatching -OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:27683 semapv:UnspecifiedMatching -OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:ALKAL2 semapv:UnspecifiedMatching -OMIM:619671 ALKAL2 skos:exactMatch ncbigene:285016 semapv:UnspecifiedMatching -OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:16047 semapv:UnspecifiedMatching -OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:PRADC1 semapv:UnspecifiedMatching -OMIM:619674 PRADC1 skos:exactMatch ncbigene:84279 semapv:UnspecifiedMatching -OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:17777 semapv:UnspecifiedMatching -OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:UBOX5 semapv:UnspecifiedMatching -OMIM:619675 UBOX5 skos:exactMatch ncbigene:22888 semapv:UnspecifiedMatching -OMIM:619676 TEX37 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching -OMIM:619676 TEX37 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching -OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:1322 semapv:UnspecifiedMatching -OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:CLDND1 semapv:UnspecifiedMatching -OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching -OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:18589 semapv:UnspecifiedMatching -OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:C22orf23 semapv:UnspecifiedMatching -OMIM:619678 C22ORF23 skos:exactMatch ncbigene:84645 semapv:UnspecifiedMatching -OMIM:619679 TSACC skos:exactMatch hgnc.symbol:30636 semapv:UnspecifiedMatching -OMIM:619679 TSACC skos:exactMatch hgnc.symbol:TSACC semapv:UnspecifiedMatching -OMIM:619679 TSACC skos:exactMatch ncbigene:128229 semapv:UnspecifiedMatching -OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:24090 semapv:UnspecifiedMatching -OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:ATRAID semapv:UnspecifiedMatching -OMIM:619682 ATRAID skos:exactMatch ncbigene:51374 semapv:UnspecifiedMatching -OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:18232 semapv:UnspecifiedMatching -OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:BSPRY semapv:UnspecifiedMatching -OMIM:619683 BSPRY skos:exactMatch ncbigene:54836 semapv:UnspecifiedMatching -OMIM:619684 MGARP skos:exactMatch hgnc.symbol:29969 semapv:UnspecifiedMatching -OMIM:619684 MGARP skos:exactMatch hgnc.symbol:MGARP semapv:UnspecifiedMatching -OMIM:619684 MGARP skos:exactMatch ncbigene:84709 semapv:UnspecifiedMatching -OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:26730 semapv:UnspecifiedMatching -OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:C1orf127 semapv:UnspecifiedMatching -OMIM:619700 C1ORF127 skos:exactMatch ncbigene:148345 semapv:UnspecifiedMatching -OMIM:619703 CIROP skos:exactMatch hgnc.symbol:53647 semapv:UnspecifiedMatching -OMIM:619703 CIROP skos:exactMatch hgnc.symbol:CIROP semapv:UnspecifiedMatching -OMIM:619703 CIROP skos:exactMatch ncbigene:100128908 semapv:UnspecifiedMatching -OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:29528 semapv:UnspecifiedMatching -OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:ZC3H15 semapv:UnspecifiedMatching -OMIM:619704 ZC3H15 skos:exactMatch ncbigene:55854 semapv:UnspecifiedMatching -OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:16208 semapv:UnspecifiedMatching -OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:LRRN4 semapv:UnspecifiedMatching -OMIM:619706 LRRN4 skos:exactMatch ncbigene:164312 semapv:UnspecifiedMatching -OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:1314 semapv:UnspecifiedMatching -OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:KIAA0930 semapv:UnspecifiedMatching -OMIM:619709 KIAA0930 skos:exactMatch ncbigene:23313 semapv:UnspecifiedMatching -OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:31357 semapv:UnspecifiedMatching -OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:HAPLN4 semapv:UnspecifiedMatching -OMIM:619710 HAPLN4 skos:exactMatch ncbigene:404037 semapv:UnspecifiedMatching -OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:16668 semapv:UnspecifiedMatching -OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:C19orf33 semapv:UnspecifiedMatching -OMIM:619711 C19ORF33 skos:exactMatch ncbigene:64073 semapv:UnspecifiedMatching -OMIM:619713 CDHR2 skos:exactMatch hgnc.symbol:18231 semapv:UnspecifiedMatching -OMIM:619713 CDHR2 skos:exactMatch hgnc.symbol:CDHR2 semapv:UnspecifiedMatching -OMIM:619713 CDHR2 skos:exactMatch ncbigene:54825 semapv:UnspecifiedMatching -OMIM:619715 WIZ skos:exactMatch hgnc.symbol:30917 semapv:UnspecifiedMatching -OMIM:619715 WIZ skos:exactMatch hgnc.symbol:WIZ semapv:UnspecifiedMatching -OMIM:619715 WIZ skos:exactMatch ncbigene:58525 semapv:UnspecifiedMatching -OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:14672 semapv:UnspecifiedMatching -OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:ACTR8 semapv:UnspecifiedMatching -OMIM:619716 ACTR8 skos:exactMatch ncbigene:93973 semapv:UnspecifiedMatching -OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:26186 semapv:UnspecifiedMatching -OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:TMEM53 semapv:UnspecifiedMatching -OMIM:619722 TMEM53 skos:exactMatch ncbigene:79639 semapv:UnspecifiedMatching -OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:29507 semapv:UnspecifiedMatching -OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:SCPEP1 semapv:UnspecifiedMatching -OMIM:619723 SCPEP1 skos:exactMatch ncbigene:59342 semapv:UnspecifiedMatching -OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:17410 semapv:UnspecifiedMatching -OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:HAPLN2 semapv:UnspecifiedMatching -OMIM:619726 HAPLN2 skos:exactMatch ncbigene:60484 semapv:UnspecifiedMatching -OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:20154 semapv:UnspecifiedMatching -OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:ABHD4 semapv:UnspecifiedMatching -OMIM:619728 ABHD4 skos:exactMatch ncbigene:63874 semapv:UnspecifiedMatching -OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:24025 semapv:UnspecifiedMatching -OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:ACTR6 semapv:UnspecifiedMatching -OMIM:619729 ACTR6 skos:exactMatch ncbigene:64431 semapv:UnspecifiedMatching -OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:14671 semapv:UnspecifiedMatching -OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:ACTR5 semapv:UnspecifiedMatching -OMIM:619730 ACTR5 skos:exactMatch ncbigene:79913 semapv:UnspecifiedMatching -OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:17372 semapv:UnspecifiedMatching -OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:ACTR10 semapv:UnspecifiedMatching -OMIM:619731 ACTR10 skos:exactMatch ncbigene:55860 semapv:UnspecifiedMatching -OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:26303 semapv:UnspecifiedMatching -OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:PXYLP1 semapv:UnspecifiedMatching -OMIM:619732 PXYLP1 skos:exactMatch ncbigene:92370 semapv:UnspecifiedMatching -OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:17572 semapv:UnspecifiedMatching -OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:EPDR1 semapv:UnspecifiedMatching -OMIM:619734 EPDR1 skos:exactMatch ncbigene:54749 semapv:UnspecifiedMatching -OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:24910 semapv:UnspecifiedMatching -OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:ASNSD1 semapv:UnspecifiedMatching -OMIM:619739 ASNSD1 skos:exactMatch ncbigene:54529 semapv:UnspecifiedMatching -OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:53619 semapv:UnspecifiedMatching -OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:ASDURF semapv:UnspecifiedMatching -OMIM:619740 ASDURF skos:exactMatch ncbigene:110599588 semapv:UnspecifiedMatching -OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:28046 semapv:UnspecifiedMatching -OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:ZMAT5 semapv:UnspecifiedMatching -OMIM:619741 ZMAT5 skos:exactMatch ncbigene:55954 semapv:UnspecifiedMatching -OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:30246 semapv:UnspecifiedMatching -OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:ZCCHC17 semapv:UnspecifiedMatching -OMIM:619744 ZCCHC17 skos:exactMatch ncbigene:51538 semapv:UnspecifiedMatching -OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:29913 semapv:UnspecifiedMatching -OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:ZC3HC1 semapv:UnspecifiedMatching -OMIM:619746 ZC3HC1 skos:exactMatch ncbigene:51530 semapv:UnspecifiedMatching -OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:17200 semapv:UnspecifiedMatching -OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:LRRN3 semapv:UnspecifiedMatching -OMIM:619748 LRRN3 skos:exactMatch ncbigene:54674 semapv:UnspecifiedMatching -OMIM:619749 VEZT skos:exactMatch hgnc.symbol:18258 semapv:UnspecifiedMatching -OMIM:619749 VEZT skos:exactMatch hgnc.symbol:VEZT semapv:UnspecifiedMatching -OMIM:619749 VEZT skos:exactMatch ncbigene:55591 semapv:UnspecifiedMatching -OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:30258 semapv:UnspecifiedMatching -OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:PYM1 semapv:UnspecifiedMatching -OMIM:619753 PYM1 skos:exactMatch ncbigene:84305 semapv:UnspecifiedMatching -OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:26825 semapv:UnspecifiedMatching -OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:YIPF7 semapv:UnspecifiedMatching -OMIM:619754 YIPF7 skos:exactMatch ncbigene:285525 semapv:UnspecifiedMatching -OMIM:619756 UBE2J2 skos:exactMatch hgnc.symbol:19268 semapv:UnspecifiedMatching -OMIM:619756 UBE2J2 skos:exactMatch hgnc.symbol:UBE2J2 semapv:UnspecifiedMatching -OMIM:619756 UBE2J2 skos:exactMatch ncbigene:118424 semapv:UnspecifiedMatching -OMIM:619757 ASB15 skos:exactMatch hgnc.symbol:19767 semapv:UnspecifiedMatching -OMIM:619757 ASB15 skos:exactMatch hgnc.symbol:ASB15 semapv:UnspecifiedMatching -OMIM:619757 ASB15 skos:exactMatch ncbigene:142685 semapv:UnspecifiedMatching -OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:29452 semapv:UnspecifiedMatching -OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:ATP23 semapv:UnspecifiedMatching -OMIM:619760 ATP23 skos:exactMatch ncbigene:91419 semapv:UnspecifiedMatching -OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:29175 semapv:UnspecifiedMatching -OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:WDTC1 semapv:UnspecifiedMatching -OMIM:619763 WDTC1 skos:exactMatch ncbigene:23038 semapv:UnspecifiedMatching -OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:17295 semapv:UnspecifiedMatching -OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:CRYBG2 semapv:UnspecifiedMatching -OMIM:619765 CRYBG2 skos:exactMatch ncbigene:55057 semapv:UnspecifiedMatching -OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:17798 semapv:UnspecifiedMatching -OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:YLPM1 semapv:UnspecifiedMatching -OMIM:619766 YLPM1 skos:exactMatch ncbigene:56252 semapv:UnspecifiedMatching -OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:28633 semapv:UnspecifiedMatching -OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:ARRDC1 semapv:UnspecifiedMatching -OMIM:619768 ARRDC1 skos:exactMatch ncbigene:92714 semapv:UnspecifiedMatching -OMIM:619770 YDJC skos:exactMatch hgnc.symbol:27158 semapv:UnspecifiedMatching -OMIM:619770 YDJC skos:exactMatch hgnc.symbol:YDJC semapv:UnspecifiedMatching -OMIM:619770 YDJC skos:exactMatch ncbigene:150223 semapv:UnspecifiedMatching -OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:18996 semapv:UnspecifiedMatching -OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:VRK3 semapv:UnspecifiedMatching -OMIM:619771 VRK3 skos:exactMatch ncbigene:51231 semapv:UnspecifiedMatching -OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:25687 semapv:UnspecifiedMatching -OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:PAAF1 semapv:UnspecifiedMatching -OMIM:619772 PAAF1 skos:exactMatch ncbigene:80227 semapv:UnspecifiedMatching -OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:14438 semapv:UnspecifiedMatching -OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:C2CD6 semapv:UnspecifiedMatching -OMIM:619776 C2CD6 skos:exactMatch ncbigene:151254 semapv:UnspecifiedMatching -OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:26752 semapv:UnspecifiedMatching -OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:ANKRD42 semapv:UnspecifiedMatching -OMIM:619778 ANKRD42 skos:exactMatch ncbigene:338699 semapv:UnspecifiedMatching -OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:28141 semapv:UnspecifiedMatching -OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:AFAP1-AS1 semapv:UnspecifiedMatching -OMIM:619779 AFAP1AS1 skos:exactMatch ncbigene:84740 semapv:UnspecifiedMatching -OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:22135 semapv:UnspecifiedMatching -OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:SPACDR semapv:UnspecifiedMatching -OMIM:619782 SPACDR skos:exactMatch ncbigene:402573 semapv:UnspecifiedMatching -OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:28087 semapv:UnspecifiedMatching -OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:ARRDC4 semapv:UnspecifiedMatching -OMIM:619788 ARRDC4 skos:exactMatch ncbigene:91947 semapv:UnspecifiedMatching -OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:13543 semapv:UnspecifiedMatching -OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:ATP10B semapv:UnspecifiedMatching -OMIM:619791 ATP10B skos:exactMatch ncbigene:23120 semapv:UnspecifiedMatching -OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:848 semapv:UnspecifiedMatching -OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:ATP5MF semapv:UnspecifiedMatching -OMIM:619792 ATP5MF skos:exactMatch ncbigene:9551 semapv:UnspecifiedMatching -OMIM:619794 VWC2L skos:exactMatch hgnc.symbol:37203 semapv:UnspecifiedMatching -OMIM:619794 VWC2L skos:exactMatch hgnc.symbol:VWC2L semapv:UnspecifiedMatching -OMIM:619794 VWC2L skos:exactMatch ncbigene:402117 semapv:UnspecifiedMatching -OMIM:619796 FLACC1 skos:exactMatch hgnc.symbol:14439 semapv:UnspecifiedMatching -OMIM:619796 FLACC1 skos:exactMatch hgnc.symbol:FLACC1 semapv:UnspecifiedMatching -OMIM:619796 FLACC1 skos:exactMatch ncbigene:130540 semapv:UnspecifiedMatching -OMIM:619798 ELF2 skos:exactMatch hgnc.symbol:3317 semapv:UnspecifiedMatching -OMIM:619798 ELF2 skos:exactMatch hgnc.symbol:ELF2 semapv:UnspecifiedMatching -OMIM:619798 ELF2 skos:exactMatch ncbigene:1998 semapv:UnspecifiedMatching -OMIM:619800 HMGXB3 skos:exactMatch hgnc.symbol:28982 semapv:UnspecifiedMatching -OMIM:619800 HMGXB3 skos:exactMatch hgnc.symbol:HMGXB3 semapv:UnspecifiedMatching -OMIM:619800 HMGXB3 skos:exactMatch ncbigene:22993 semapv:UnspecifiedMatching -OMIM:619801 POLR3H skos:exactMatch hgnc.symbol:30349 semapv:UnspecifiedMatching -OMIM:619801 POLR3H skos:exactMatch hgnc.symbol:POLR3H semapv:UnspecifiedMatching -OMIM:619801 POLR3H skos:exactMatch ncbigene:171568 semapv:UnspecifiedMatching -OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:30434 semapv:UnspecifiedMatching -OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:MYBPHL semapv:UnspecifiedMatching -OMIM:619807 MYBPHL skos:exactMatch ncbigene:343263 semapv:UnspecifiedMatching -OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:28183 semapv:UnspecifiedMatching -OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:UGT2A2 semapv:UnspecifiedMatching -OMIM:619809 UGT2A2 skos:exactMatch ncbigene:574537 semapv:UnspecifiedMatching -OMIM:619811 UHRF1BP1L skos:exactMatch hgnc.symbol:BLTP3B semapv:UnspecifiedMatching -OMIM:619811 UHRF1BP1L skos:exactMatch ncbigene:23074 semapv:UnspecifiedMatching -OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:13549 semapv:UnspecifiedMatching -OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:ATP10D semapv:UnspecifiedMatching -OMIM:619815 ATP10D skos:exactMatch ncbigene:57205 semapv:UnspecifiedMatching -OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:28691 semapv:UnspecifiedMatching -OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:ELOF1 semapv:UnspecifiedMatching -OMIM:619818 ELOF1 skos:exactMatch ncbigene:84337 semapv:UnspecifiedMatching -OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:30959 semapv:UnspecifiedMatching -OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:ZC3H7A semapv:UnspecifiedMatching -OMIM:619819 ZC3H7A skos:exactMatch ncbigene:29066 semapv:UnspecifiedMatching -OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:24126 semapv:UnspecifiedMatching -OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:ATOH8 semapv:UnspecifiedMatching -OMIM:619820 ATOH8 skos:exactMatch ncbigene:84913 semapv:UnspecifiedMatching -OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:26640 semapv:UnspecifiedMatching -OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:ENDOV semapv:UnspecifiedMatching -OMIM:619821 ENDOV skos:exactMatch ncbigene:284131 semapv:UnspecifiedMatching -OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:17164 semapv:UnspecifiedMatching -OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:BCL2L13 semapv:UnspecifiedMatching -OMIM:619822 BCL2L13 skos:exactMatch ncbigene:23786 semapv:UnspecifiedMatching -OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:16677 semapv:UnspecifiedMatching -OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:ANP32B semapv:UnspecifiedMatching -OMIM:619823 ANP32B skos:exactMatch ncbigene:10541 semapv:UnspecifiedMatching -OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:29296 semapv:UnspecifiedMatching -OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:CCDC146 semapv:UnspecifiedMatching -OMIM:619829 CCDC146 skos:exactMatch ncbigene:57639 semapv:UnspecifiedMatching -OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:33185 semapv:UnspecifiedMatching -OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:DBX1 semapv:UnspecifiedMatching -OMIM:619830 DBX1 skos:exactMatch ncbigene:120237 semapv:UnspecifiedMatching -OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:17841 semapv:UnspecifiedMatching -OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:MORN5 semapv:UnspecifiedMatching -OMIM:619837 MORN5 skos:exactMatch ncbigene:254956 semapv:UnspecifiedMatching -OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:16118 semapv:UnspecifiedMatching -OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:TTLL9 semapv:UnspecifiedMatching -OMIM:619838 TTLL9 skos:exactMatch ncbigene:164395 semapv:UnspecifiedMatching -OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:28605 semapv:UnspecifiedMatching -OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:SNX31 semapv:UnspecifiedMatching -OMIM:619839 SNX31 skos:exactMatch ncbigene:169166 semapv:UnspecifiedMatching -OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:25836 semapv:UnspecifiedMatching -OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:RIPOR1 semapv:UnspecifiedMatching -OMIM:619842 RIPOR1 skos:exactMatch ncbigene:79567 semapv:UnspecifiedMatching -OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:29044 semapv:UnspecifiedMatching -OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:DENND4B semapv:UnspecifiedMatching -OMIM:619843 DENND4B skos:exactMatch ncbigene:9909 semapv:UnspecifiedMatching -OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:25546 semapv:UnspecifiedMatching -OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:TBCCD1 semapv:UnspecifiedMatching -OMIM:619848 TBCCD1 skos:exactMatch ncbigene:55171 semapv:UnspecifiedMatching -OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:30005 semapv:UnspecifiedMatching -OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:A3GALT2 semapv:UnspecifiedMatching -OMIM:619850 A3GALT2 skos:exactMatch ncbigene:127550 semapv:UnspecifiedMatching -OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:26541 semapv:UnspecifiedMatching -OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:GARIN4 semapv:UnspecifiedMatching -OMIM:619852 GARIN4 skos:exactMatch ncbigene:149647 semapv:UnspecifiedMatching -OMIM:619853 FAXDC2 skos:exactMatch hgnc.symbol:1334 semapv:UnspecifiedMatching -OMIM:619853 FAXDC2 skos:exactMatch hgnc.symbol:FAXDC2 semapv:UnspecifiedMatching -OMIM:619853 FAXDC2 skos:exactMatch ncbigene:10826 semapv:UnspecifiedMatching -OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:29223 semapv:UnspecifiedMatching -OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:ANKRD50 semapv:UnspecifiedMatching -OMIM:619856 ANKRD50 skos:exactMatch ncbigene:57182 semapv:UnspecifiedMatching -OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:17884 semapv:UnspecifiedMatching -OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:SPATA3 semapv:UnspecifiedMatching -OMIM:619857 SPATA3 skos:exactMatch ncbigene:130560 semapv:UnspecifiedMatching -OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:26539 semapv:UnspecifiedMatching -OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:DCST1 semapv:UnspecifiedMatching -OMIM:619860 DCST1 skos:exactMatch ncbigene:149095 semapv:UnspecifiedMatching -OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:26562 semapv:UnspecifiedMatching -OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:DCST2 semapv:UnspecifiedMatching -OMIM:619861 DCST2 skos:exactMatch ncbigene:127579 semapv:UnspecifiedMatching -OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:20156 semapv:UnspecifiedMatching -OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:JPH4 semapv:UnspecifiedMatching -OMIM:619863 JPH4 skos:exactMatch ncbigene:84502 semapv:UnspecifiedMatching -OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:21384 semapv:UnspecifiedMatching -OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:TMEM14B semapv:UnspecifiedMatching -OMIM:619865 TMEM14B skos:exactMatch ncbigene:81853 semapv:UnspecifiedMatching -OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:37241 semapv:UnspecifiedMatching -OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:CFAP97D1 semapv:UnspecifiedMatching -OMIM:619866 CFAP97D1 skos:exactMatch ncbigene:284067 semapv:UnspecifiedMatching -OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:26282 semapv:UnspecifiedMatching -OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:CCDC82 semapv:UnspecifiedMatching -OMIM:619870 CCDC82 skos:exactMatch ncbigene:79780 semapv:UnspecifiedMatching -OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:32934 semapv:UnspecifiedMatching -OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:SLCO1B7 semapv:UnspecifiedMatching -OMIM:619875 SLCO1B7 skos:exactMatch ncbigene:338821 semapv:UnspecifiedMatching -OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:26754 semapv:UnspecifiedMatching -OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:TYW5 semapv:UnspecifiedMatching -OMIM:619882 TYW5 skos:exactMatch ncbigene:129450 semapv:UnspecifiedMatching -OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:28397 semapv:UnspecifiedMatching -OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:GARIN3 semapv:UnspecifiedMatching -OMIM:619883 GARIN3 skos:exactMatch ncbigene:153745 semapv:UnspecifiedMatching -OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:18657 semapv:UnspecifiedMatching -OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:TTC39A semapv:UnspecifiedMatching -OMIM:619885 TTC39A skos:exactMatch ncbigene:22996 semapv:UnspecifiedMatching -OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:29167 semapv:UnspecifiedMatching -OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:R3HDM2 semapv:UnspecifiedMatching -OMIM:619886 R3HDM2 skos:exactMatch ncbigene:22864 semapv:UnspecifiedMatching -OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:49425 semapv:UnspecifiedMatching -OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:GHET1 semapv:UnspecifiedMatching -OMIM:619888 GHET1 skos:exactMatch ncbigene:102723099 semapv:UnspecifiedMatching -OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:28627 semapv:UnspecifiedMatching -OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:TCP11L2 semapv:UnspecifiedMatching -OMIM:619889 TCP11L2 skos:exactMatch ncbigene:255394 semapv:UnspecifiedMatching -OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:25107 semapv:UnspecifiedMatching -OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:GARIN5A semapv:UnspecifiedMatching -OMIM:619890 GARIN5A skos:exactMatch ncbigene:112703 semapv:UnspecifiedMatching -OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:26924 semapv:UnspecifiedMatching -OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:WDR93 semapv:UnspecifiedMatching -OMIM:619891 WDR93 skos:exactMatch ncbigene:56964 semapv:UnspecifiedMatching -OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:24523 semapv:UnspecifiedMatching -OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:ZZZ3 semapv:UnspecifiedMatching -OMIM:619892 ZZZ3 skos:exactMatch ncbigene:26009 semapv:UnspecifiedMatching -OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:25732 semapv:UnspecifiedMatching -OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:KLHL25 semapv:UnspecifiedMatching -OMIM:619893 KLHL25 skos:exactMatch ncbigene:64410 semapv:UnspecifiedMatching -OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:26971 semapv:UnspecifiedMatching -OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:ABHD15 semapv:UnspecifiedMatching -OMIM:619894 ABHD15 skos:exactMatch ncbigene:116236 semapv:UnspecifiedMatching -OMIM:619896 MATCAP2 skos:exactMatch hgnc.symbol:MATCAP2 semapv:UnspecifiedMatching -OMIM:619896 MATCAP2 skos:exactMatch ncbigene:23366 semapv:UnspecifiedMatching -OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:20101 semapv:UnspecifiedMatching -OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:GARIN2 semapv:UnspecifiedMatching -OMIM:619898 GARIN2 skos:exactMatch ncbigene:161142 semapv:UnspecifiedMatching -OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:33877 semapv:UnspecifiedMatching -OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:NALF1 semapv:UnspecifiedMatching -OMIM:619899 NALF1 skos:exactMatch ncbigene:728215 semapv:UnspecifiedMatching -OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:6306 semapv:UnspecifiedMatching -OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:KDELR3 semapv:UnspecifiedMatching -OMIM:619900 KDELR3 skos:exactMatch ncbigene:11015 semapv:UnspecifiedMatching -OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:3249 semapv:UnspecifiedMatching -OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:EIF1 semapv:UnspecifiedMatching -OMIM:619901 EIF1 skos:exactMatch ncbigene:10209 semapv:UnspecifiedMatching -OMIM:619904 GARIN1A skos:exactMatch hgnc.symbol:27998 semapv:UnspecifiedMatching -OMIM:619904 GARIN1A skos:exactMatch hgnc.symbol:GARIN1A semapv:UnspecifiedMatching -OMIM:619904 GARIN1A skos:exactMatch ncbigene:346653 semapv:UnspecifiedMatching -OMIM:619905 GARIN1B skos:exactMatch hgnc.symbol:30704 semapv:UnspecifiedMatching -OMIM:619905 GARIN1B skos:exactMatch hgnc.symbol:GARIN1B semapv:UnspecifiedMatching -OMIM:619905 GARIN1B skos:exactMatch ncbigene:84691 semapv:UnspecifiedMatching -OMIM:619906 DDX39A skos:exactMatch hgnc.symbol:17821 semapv:UnspecifiedMatching -OMIM:619906 DDX39A skos:exactMatch hgnc.symbol:DDX39A semapv:UnspecifiedMatching -OMIM:619906 DDX39A skos:exactMatch ncbigene:10212 semapv:UnspecifiedMatching -OMIM:619907 PHF14 skos:exactMatch hgnc.symbol:22203 semapv:UnspecifiedMatching -OMIM:619907 PHF14 skos:exactMatch hgnc.symbol:PHF14 semapv:UnspecifiedMatching -OMIM:619907 PHF14 skos:exactMatch ncbigene:9678 semapv:UnspecifiedMatching -OMIM:619912 MYMX skos:exactMatch hgnc.symbol:52391 semapv:UnspecifiedMatching -OMIM:619912 MYMX skos:exactMatch hgnc.symbol:MYMX semapv:UnspecifiedMatching -OMIM:619912 MYMX skos:exactMatch ncbigene:101929726 semapv:UnspecifiedMatching -OMIM:619914 SEL1L3 skos:exactMatch hgnc.symbol:29108 semapv:UnspecifiedMatching -OMIM:619914 SEL1L3 skos:exactMatch hgnc.symbol:SEL1L3 semapv:UnspecifiedMatching -OMIM:619914 SEL1L3 skos:exactMatch ncbigene:23231 semapv:UnspecifiedMatching -OMIM:619915 RBM34 skos:exactMatch hgnc.symbol:28965 semapv:UnspecifiedMatching -OMIM:619915 RBM34 skos:exactMatch hgnc.symbol:RBM34 semapv:UnspecifiedMatching -OMIM:619915 RBM34 skos:exactMatch ncbigene:23029 semapv:UnspecifiedMatching -OMIM:619916 ZNF799 skos:exactMatch hgnc.symbol:28071 semapv:UnspecifiedMatching -OMIM:619916 ZNF799 skos:exactMatch hgnc.symbol:ZNF799 semapv:UnspecifiedMatching -OMIM:619916 ZNF799 skos:exactMatch ncbigene:90576 semapv:UnspecifiedMatching -OMIM:619917 SUSD5 skos:exactMatch hgnc.symbol:29061 semapv:UnspecifiedMatching -OMIM:619917 SUSD5 skos:exactMatch hgnc.symbol:SUSD5 semapv:UnspecifiedMatching -OMIM:619917 SUSD5 skos:exactMatch ncbigene:26032 semapv:UnspecifiedMatching -OMIM:619918 TUBA3E skos:exactMatch hgnc.symbol:20765 semapv:UnspecifiedMatching -OMIM:619918 TUBA3E skos:exactMatch hgnc.symbol:TUBA3E semapv:UnspecifiedMatching -OMIM:619918 TUBA3E skos:exactMatch ncbigene:112714 semapv:UnspecifiedMatching -OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:25968 semapv:UnspecifiedMatching -OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:ARHGEF38 semapv:UnspecifiedMatching -OMIM:619919 ARHGEF38 skos:exactMatch ncbigene:54848 semapv:UnspecifiedMatching -OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:32525 semapv:UnspecifiedMatching -OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:ANKDD1B semapv:UnspecifiedMatching -OMIM:619920 ANKDD1B skos:exactMatch ncbigene:728780 semapv:UnspecifiedMatching -OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:20097 semapv:UnspecifiedMatching -OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:PPP1R36 semapv:UnspecifiedMatching -OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching -OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:24256 semapv:UnspecifiedMatching -OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:WASHC3 semapv:UnspecifiedMatching -OMIM:619925 WASHC3 skos:exactMatch ncbigene:51019 semapv:UnspecifiedMatching -OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:29120 semapv:UnspecifiedMatching -OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:KLHL18 semapv:UnspecifiedMatching -OMIM:619926 KLHL18 skos:exactMatch ncbigene:23276 semapv:UnspecifiedMatching -OMIM:619928 PHF24 skos:exactMatch hgnc.symbol:29180 semapv:UnspecifiedMatching -OMIM:619928 PHF24 skos:exactMatch hgnc.symbol:PHF24 semapv:UnspecifiedMatching -OMIM:619928 PHF24 skos:exactMatch ncbigene:23349 semapv:UnspecifiedMatching -OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:30884 semapv:UnspecifiedMatching -OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:TEX2 semapv:UnspecifiedMatching -OMIM:619929 TEX2 skos:exactMatch ncbigene:55852 semapv:UnspecifiedMatching -OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:26433 semapv:UnspecifiedMatching -OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:ZMAT2 semapv:UnspecifiedMatching -OMIM:619930 ZMAT2 skos:exactMatch ncbigene:153527 semapv:UnspecifiedMatching -OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:21096 semapv:UnspecifiedMatching -OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:GFOD1 semapv:UnspecifiedMatching -OMIM:619932 GFOD1 skos:exactMatch ncbigene:54438 semapv:UnspecifiedMatching -OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:28159 semapv:UnspecifiedMatching -OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:GFOD2 semapv:UnspecifiedMatching -OMIM:619933 GFOD2 skos:exactMatch ncbigene:81577 semapv:UnspecifiedMatching -OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:19769 semapv:UnspecifiedMatching -OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:ASB17 semapv:UnspecifiedMatching -OMIM:619936 ASB17 skos:exactMatch ncbigene:127247 semapv:UnspecifiedMatching -OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:14735 semapv:UnspecifiedMatching -OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:OR4M1 semapv:UnspecifiedMatching -OMIM:619939 OR4M1 skos:exactMatch ncbigene:441670 semapv:UnspecifiedMatching -OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:25508 semapv:UnspecifiedMatching -OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:XKR8 semapv:UnspecifiedMatching -OMIM:619940 XKR8 skos:exactMatch ncbigene:55113 semapv:UnspecifiedMatching -OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:25294 semapv:UnspecifiedMatching -OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:ZNF541 semapv:UnspecifiedMatching -OMIM:619942 ZNF541 skos:exactMatch ncbigene:84215 semapv:UnspecifiedMatching -OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:24753 semapv:UnspecifiedMatching -OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:KCTD19 semapv:UnspecifiedMatching -OMIM:619943 KCTD19 skos:exactMatch ncbigene:146212 semapv:UnspecifiedMatching -OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:29197 semapv:UnspecifiedMatching -OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:CCSER2 semapv:UnspecifiedMatching -OMIM:619944 CCSER2 skos:exactMatch ncbigene:54462 semapv:UnspecifiedMatching -OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:29235 semapv:UnspecifiedMatching -OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:FAM184B semapv:UnspecifiedMatching -OMIM:619945 FAM184B skos:exactMatch ncbigene:27146 semapv:UnspecifiedMatching -OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:30319 semapv:UnspecifiedMatching -OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:MCF2L2 semapv:UnspecifiedMatching -OMIM:619946 MCF2L2 skos:exactMatch ncbigene:23101 semapv:UnspecifiedMatching -OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:21204 semapv:UnspecifiedMatching -OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:IPCEF1 semapv:UnspecifiedMatching -OMIM:619948 IPCEF1 skos:exactMatch ncbigene:26034 semapv:UnspecifiedMatching -OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:17735 semapv:UnspecifiedMatching -OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:TMEM63B semapv:UnspecifiedMatching -OMIM:619952 TMEM63B skos:exactMatch ncbigene:55362 semapv:UnspecifiedMatching -OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:23787 semapv:UnspecifiedMatching -OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:TMEM63C semapv:UnspecifiedMatching -OMIM:619953 TMEM63C skos:exactMatch ncbigene:57156 semapv:UnspecifiedMatching -OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:37236 semapv:UnspecifiedMatching -OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:SYCE1L semapv:UnspecifiedMatching -OMIM:619954 SYCE1L skos:exactMatch ncbigene:100130958 semapv:UnspecifiedMatching -OMIM:619956 PYURF skos:exactMatch hgnc.symbol:44317 semapv:UnspecifiedMatching -OMIM:619956 PYURF skos:exactMatch hgnc.symbol:PYURF semapv:UnspecifiedMatching -OMIM:619956 PYURF skos:exactMatch ncbigene:100996939 semapv:UnspecifiedMatching -OMIM:619958 GLMP skos:exactMatch hgnc.symbol:29436 semapv:UnspecifiedMatching -OMIM:619958 GLMP skos:exactMatch hgnc.symbol:GLMP semapv:UnspecifiedMatching -OMIM:619958 GLMP skos:exactMatch ncbigene:112770 semapv:UnspecifiedMatching -OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:15870 semapv:UnspecifiedMatching -OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:RAB5IF semapv:UnspecifiedMatching -OMIM:619960 RAB5IF skos:exactMatch ncbigene:55969 semapv:UnspecifiedMatching -OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:3799 semapv:UnspecifiedMatching -OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:FOXB1 semapv:UnspecifiedMatching -OMIM:619961 FOXB1 skos:exactMatch ncbigene:27023 semapv:UnspecifiedMatching -OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:23315 semapv:UnspecifiedMatching -OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:FOXB2 semapv:UnspecifiedMatching -OMIM:619962 FOXB2 skos:exactMatch ncbigene:442425 semapv:UnspecifiedMatching -OMIM:619963 ANO9 skos:exactMatch hgnc.symbol:20679 semapv:UnspecifiedMatching -OMIM:619963 ANO9 skos:exactMatch hgnc.symbol:ANO9 semapv:UnspecifiedMatching -OMIM:619963 ANO9 skos:exactMatch ncbigene:338440 semapv:UnspecifiedMatching -OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:20565 semapv:UnspecifiedMatching -OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:ALPK2 semapv:UnspecifiedMatching -OMIM:619965 ALPK2 skos:exactMatch ncbigene:115701 semapv:UnspecifiedMatching -OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:23337 semapv:UnspecifiedMatching -OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:ACBD4 semapv:UnspecifiedMatching -OMIM:619968 ACBD4 skos:exactMatch ncbigene:79777 semapv:UnspecifiedMatching -OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:26955 semapv:UnspecifiedMatching -OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:ZBTB47 semapv:UnspecifiedMatching -OMIM:619969 ZBTB47 skos:exactMatch ncbigene:92999 semapv:UnspecifiedMatching -OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:29157 semapv:UnspecifiedMatching -OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:DNAJC16 semapv:UnspecifiedMatching -OMIM:619973 DNAJC16 skos:exactMatch ncbigene:23341 semapv:UnspecifiedMatching -OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:27937 semapv:UnspecifiedMatching -OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:ESPNL semapv:UnspecifiedMatching -OMIM:619974 ESPNL skos:exactMatch ncbigene:339768 semapv:UnspecifiedMatching -OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:25874 semapv:UnspecifiedMatching -OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:MFSD1 semapv:UnspecifiedMatching -OMIM:619976 MFSD1 skos:exactMatch ncbigene:64747 semapv:UnspecifiedMatching -OMIM:619978 MATCAP1 skos:exactMatch hgnc.symbol:MATCAP1 semapv:UnspecifiedMatching -OMIM:619978 MATCAP1 skos:exactMatch ncbigene:653319 semapv:UnspecifiedMatching -OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:31690 semapv:UnspecifiedMatching -OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:C18orf32 semapv:UnspecifiedMatching -OMIM:619979 C18ORF32 skos:exactMatch ncbigene:497661 semapv:UnspecifiedMatching -OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:44879 semapv:UnspecifiedMatching -OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:VIM-AS1 semapv:UnspecifiedMatching -OMIM:619982 VIMAS1 skos:exactMatch ncbigene:100507347 semapv:UnspecifiedMatching -OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:28989 semapv:UnspecifiedMatching -OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:NPIPB3 semapv:UnspecifiedMatching -OMIM:619984 NPIPB3 skos:exactMatch ncbigene:23117 semapv:UnspecifiedMatching -OMIM:619987 NRARP skos:exactMatch hgnc.symbol:33843 semapv:UnspecifiedMatching -OMIM:619987 NRARP skos:exactMatch hgnc.symbol:NRARP semapv:UnspecifiedMatching -OMIM:619987 NRARP skos:exactMatch ncbigene:441478 semapv:UnspecifiedMatching -OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:24253 semapv:UnspecifiedMatching -OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:TMED7 semapv:UnspecifiedMatching -OMIM:619990 TMED7 skos:exactMatch ncbigene:51014 semapv:UnspecifiedMatching -OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:25320 semapv:UnspecifiedMatching -OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:C3orf20 semapv:UnspecifiedMatching -OMIM:619992 C3ORF20 skos:exactMatch ncbigene:84077 semapv:UnspecifiedMatching -OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:26591 semapv:UnspecifiedMatching -OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:PRRT3 semapv:UnspecifiedMatching -OMIM:619993 PRRT3 skos:exactMatch ncbigene:285368 semapv:UnspecifiedMatching -OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:26882 semapv:UnspecifiedMatching -OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:DYNLT5 semapv:UnspecifiedMatching -OMIM:619994 DYNLT5 skos:exactMatch ncbigene:200132 semapv:UnspecifiedMatching -OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:30559 semapv:UnspecifiedMatching -OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:RSRC2 semapv:UnspecifiedMatching -OMIM:619996 RSRC2 skos:exactMatch ncbigene:65117 semapv:UnspecifiedMatching -OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:23617 semapv:UnspecifiedMatching -OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:SLC35F5 semapv:UnspecifiedMatching -OMIM:619997 SLC35F5 skos:exactMatch ncbigene:80255 semapv:UnspecifiedMatching -OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:17010 semapv:UnspecifiedMatching -OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:NUP42 semapv:UnspecifiedMatching -OMIM:619998 NUP42 skos:exactMatch ncbigene:11097 semapv:UnspecifiedMatching -OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:25845 semapv:UnspecifiedMatching -OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:NAA40 semapv:UnspecifiedMatching -OMIM:619999 NAA40 skos:exactMatch ncbigene:79829 semapv:UnspecifiedMatching -OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:28330 semapv:UnspecifiedMatching -OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:TMEM167A semapv:UnspecifiedMatching -OMIM:620000 TMEM167A skos:exactMatch ncbigene:153339 semapv:UnspecifiedMatching -OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:27026 semapv:UnspecifiedMatching -OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:C5orf47 semapv:UnspecifiedMatching -OMIM:620002 C5ORF47 skos:exactMatch ncbigene:133491 semapv:UnspecifiedMatching -OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:29082 semapv:UnspecifiedMatching -OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:TBC1D12 semapv:UnspecifiedMatching -OMIM:620003 TBC1D12 skos:exactMatch ncbigene:23232 semapv:UnspecifiedMatching -OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:24987 semapv:UnspecifiedMatching -OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:NMRAL1 semapv:UnspecifiedMatching -OMIM:620004 NMRAL1 skos:exactMatch ncbigene:57407 semapv:UnspecifiedMatching -OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:29123 semapv:UnspecifiedMatching -OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:RAD54L2 semapv:UnspecifiedMatching -OMIM:620006 RAD54L2 skos:exactMatch ncbigene:23132 semapv:UnspecifiedMatching -OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:20664 semapv:UnspecifiedMatching -OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:H2AZ2 semapv:UnspecifiedMatching -OMIM:620008 H2AZ2 skos:exactMatch ncbigene:94239 semapv:UnspecifiedMatching -OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:16829 semapv:UnspecifiedMatching -OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:RRP9 semapv:UnspecifiedMatching -OMIM:620013 RRP9 skos:exactMatch ncbigene:9136 semapv:UnspecifiedMatching -OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:13906 semapv:UnspecifiedMatching -OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:MXD4 semapv:UnspecifiedMatching -OMIM:620016 MXD4 skos:exactMatch ncbigene:10608 semapv:UnspecifiedMatching -OMIM:620017 NRM skos:exactMatch hgnc.symbol:8003 semapv:UnspecifiedMatching -OMIM:620017 NRM skos:exactMatch hgnc.symbol:NRM semapv:UnspecifiedMatching -OMIM:620017 NRM skos:exactMatch ncbigene:11270 semapv:UnspecifiedMatching -OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:30167 semapv:UnspecifiedMatching -OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:PDIA4 semapv:UnspecifiedMatching -OMIM:620018 PDIA4 skos:exactMatch ncbigene:9601 semapv:UnspecifiedMatching -OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:30291 semapv:UnspecifiedMatching -OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:G3BP2 semapv:UnspecifiedMatching -OMIM:620020 G3BP2 skos:exactMatch ncbigene:9908 semapv:UnspecifiedMatching -OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:23712 semapv:UnspecifiedMatching -OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:ZSCAN1 semapv:UnspecifiedMatching -OMIM:620026 ZSCAN1 skos:exactMatch ncbigene:284312 semapv:UnspecifiedMatching -OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:25234 semapv:UnspecifiedMatching -OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:RSRP1 semapv:UnspecifiedMatching -OMIM:620030 RSRP1 skos:exactMatch ncbigene:57035 semapv:UnspecifiedMatching -OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:15682 semapv:UnspecifiedMatching -OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:PHC3 semapv:UnspecifiedMatching -OMIM:620031 PHC3 skos:exactMatch ncbigene:80012 semapv:UnspecifiedMatching -OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:25233 semapv:UnspecifiedMatching -OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:NIPAL3 semapv:UnspecifiedMatching -OMIM:620034 NIPAL3 skos:exactMatch ncbigene:57185 semapv:UnspecifiedMatching -OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:30586 semapv:UnspecifiedMatching -OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:SMAD5-AS1 semapv:UnspecifiedMatching -OMIM:620035 SMAD5AS1 skos:exactMatch ncbigene:9597 semapv:UnspecifiedMatching -OMIM:620036 IER2 skos:exactMatch hgnc.symbol:28871 semapv:UnspecifiedMatching -OMIM:620036 IER2 skos:exactMatch hgnc.symbol:IER2 semapv:UnspecifiedMatching -OMIM:620036 IER2 skos:exactMatch ncbigene:9592 semapv:UnspecifiedMatching -OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:16822 semapv:UnspecifiedMatching -OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:FAM193A semapv:UnspecifiedMatching -OMIM:620037 FAM193A skos:exactMatch ncbigene:8603 semapv:UnspecifiedMatching -OMIM:620039 POGK skos:exactMatch hgnc.symbol:18800 semapv:UnspecifiedMatching -OMIM:620039 POGK skos:exactMatch hgnc.symbol:POGK semapv:UnspecifiedMatching -OMIM:620039 POGK skos:exactMatch ncbigene:57645 semapv:UnspecifiedMatching -OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:28300 semapv:UnspecifiedMatching -OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:NT5C3B semapv:UnspecifiedMatching -OMIM:620041 NT5C3B skos:exactMatch ncbigene:115024 semapv:UnspecifiedMatching -OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:23396 semapv:UnspecifiedMatching -OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:PHYHD1 semapv:UnspecifiedMatching -OMIM:620042 PHYHD1 skos:exactMatch ncbigene:254295 semapv:UnspecifiedMatching -OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:29674 semapv:UnspecifiedMatching -OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:RDH16 semapv:UnspecifiedMatching -OMIM:620043 RDH16 skos:exactMatch ncbigene:8608 semapv:UnspecifiedMatching -OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:31103 semapv:UnspecifiedMatching -OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:PFN4 semapv:UnspecifiedMatching -OMIM:620046 PFN4 skos:exactMatch ncbigene:375189 semapv:UnspecifiedMatching -OMIM:620048 RER1 skos:exactMatch hgnc.symbol:30309 semapv:UnspecifiedMatching -OMIM:620048 RER1 skos:exactMatch hgnc.symbol:RER1 semapv:UnspecifiedMatching -OMIM:620048 RER1 skos:exactMatch ncbigene:11079 semapv:UnspecifiedMatching -OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:24280 semapv:UnspecifiedMatching -OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:PHF20L1 semapv:UnspecifiedMatching -OMIM:620050 PHF20L1 skos:exactMatch ncbigene:51105 semapv:UnspecifiedMatching -OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:18401 semapv:UnspecifiedMatching -OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:RNF41 semapv:UnspecifiedMatching -OMIM:620051 RNF41 skos:exactMatch ncbigene:10193 semapv:UnspecifiedMatching -OMIM:620052 ENTREP2 skos:exactMatch hgnc.symbol:ENTREP2 semapv:UnspecifiedMatching -OMIM:620052 ENTREP2 skos:exactMatch ncbigene:23359 semapv:UnspecifiedMatching -OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:27105 semapv:UnspecifiedMatching -OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:LINC00974 semapv:UnspecifiedMatching -OMIM:620053 LINC00974 skos:exactMatch ncbigene:147093 semapv:UnspecifiedMatching -OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:22983 semapv:UnspecifiedMatching -OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:PHF13 semapv:UnspecifiedMatching -OMIM:620054 PHF13 skos:exactMatch ncbigene:148479 semapv:UnspecifiedMatching -OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:17015 semapv:UnspecifiedMatching -OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:PWP1 semapv:UnspecifiedMatching -OMIM:620055 PWP1 skos:exactMatch ncbigene:11137 semapv:UnspecifiedMatching -OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:18458 semapv:UnspecifiedMatching -OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:PHF7 semapv:UnspecifiedMatching -OMIM:620057 PHF7 skos:exactMatch ncbigene:51533 semapv:UnspecifiedMatching -OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:21380 semapv:UnspecifiedMatching -OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:LINC00472 semapv:UnspecifiedMatching -OMIM:620059 LINC00472 skos:exactMatch ncbigene:79940 semapv:UnspecifiedMatching -OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:19858 semapv:UnspecifiedMatching -OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:TTC7B semapv:UnspecifiedMatching -OMIM:620060 TTC7B skos:exactMatch ncbigene:145567 semapv:UnspecifiedMatching -OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:30833 semapv:UnspecifiedMatching -OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:CDK2AP2 semapv:UnspecifiedMatching -OMIM:620061 CDK2AP2 skos:exactMatch ncbigene:10263 semapv:UnspecifiedMatching -OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:30073 semapv:UnspecifiedMatching -OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:POLA2 semapv:UnspecifiedMatching -OMIM:620063 POLA2 skos:exactMatch ncbigene:23649 semapv:UnspecifiedMatching -OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:24884 semapv:UnspecifiedMatching -OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:OXER1 semapv:UnspecifiedMatching -OMIM:620064 OXER1 skos:exactMatch ncbigene:165140 semapv:UnspecifiedMatching -OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:22215 semapv:UnspecifiedMatching -OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:ANKIB1 semapv:UnspecifiedMatching -OMIM:620069 ANKIB1 skos:exactMatch ncbigene:54467 semapv:UnspecifiedMatching -OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:21173 semapv:UnspecifiedMatching -OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:LTV1 semapv:UnspecifiedMatching -OMIM:620074 LTV1 skos:exactMatch ncbigene:84946 semapv:UnspecifiedMatching -OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:15882 semapv:UnspecifiedMatching -OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:PCMTD2 semapv:UnspecifiedMatching -OMIM:620077 PCMTD2 skos:exactMatch ncbigene:55251 semapv:UnspecifiedMatching -OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:27016 semapv:UnspecifiedMatching -OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:FAM168B semapv:UnspecifiedMatching -OMIM:620078 FAM168B skos:exactMatch ncbigene:130074 semapv:UnspecifiedMatching -OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:28227 semapv:UnspecifiedMatching -OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:LINC00467 semapv:UnspecifiedMatching -OMIM:620079 LINC00467 skos:exactMatch ncbigene:84791 semapv:UnspecifiedMatching -OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:20327 semapv:UnspecifiedMatching -OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:RBM26 semapv:UnspecifiedMatching -OMIM:620081 RBM26 skos:exactMatch ncbigene:64062 semapv:UnspecifiedMatching -OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:29243 semapv:UnspecifiedMatching -OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:RBM27 semapv:UnspecifiedMatching -OMIM:620082 RBM27 skos:exactMatch ncbigene:54439 semapv:UnspecifiedMatching -OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:19911 semapv:UnspecifiedMatching -OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:DCAF12 semapv:UnspecifiedMatching -OMIM:620087 DCAF12 skos:exactMatch ncbigene:25853 semapv:UnspecifiedMatching -OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:41041 semapv:UnspecifiedMatching -OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:WWC2-AS1 semapv:UnspecifiedMatching -OMIM:620088 WWC2AS1 skos:exactMatch ncbigene:101928734 semapv:UnspecifiedMatching -OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:30768 semapv:UnspecifiedMatching -OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:ZNF675 semapv:UnspecifiedMatching -OMIM:620090 ZNF675 skos:exactMatch ncbigene:171392 semapv:UnspecifiedMatching -OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:30483 semapv:UnspecifiedMatching -OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:PCMTD1 semapv:UnspecifiedMatching -OMIM:620091 PCMTD1 skos:exactMatch ncbigene:115294 semapv:UnspecifiedMatching -OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:29210 semapv:UnspecifiedMatching -OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:MIER2 semapv:UnspecifiedMatching -OMIM:620092 MIER2 skos:exactMatch ncbigene:54531 semapv:UnspecifiedMatching -OMIM:620093 ACTMAP skos:exactMatch hgnc.symbol:ACTMAP semapv:UnspecifiedMatching -OMIM:620093 ACTMAP skos:exactMatch ncbigene:284325 semapv:UnspecifiedMatching -OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:22916 semapv:UnspecifiedMatching -OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:ZCCHC2 semapv:UnspecifiedMatching -OMIM:620095 ZCCHC2 skos:exactMatch ncbigene:54877 semapv:UnspecifiedMatching -OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:26783 semapv:UnspecifiedMatching -OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:RNF185 semapv:UnspecifiedMatching -OMIM:620096 RNF185 skos:exactMatch ncbigene:91445 semapv:UnspecifiedMatching -OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:27283 semapv:UnspecifiedMatching -OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:PLBD2 semapv:UnspecifiedMatching -OMIM:620097 PLBD2 skos:exactMatch ncbigene:196463 semapv:UnspecifiedMatching -OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:26678 semapv:UnspecifiedMatching -OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:MIER3 semapv:UnspecifiedMatching -OMIM:620100 MIER3 skos:exactMatch ncbigene:166968 semapv:UnspecifiedMatching -OMIM:620101 RHOV skos:exactMatch hgnc.symbol:18313 semapv:UnspecifiedMatching -OMIM:620101 RHOV skos:exactMatch hgnc.symbol:RHOV semapv:UnspecifiedMatching -OMIM:620101 RHOV skos:exactMatch ncbigene:171177 semapv:UnspecifiedMatching -OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:25357 semapv:UnspecifiedMatching -OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:CLEC4F semapv:UnspecifiedMatching -OMIM:620105 CLEC4F skos:exactMatch ncbigene:165530 semapv:UnspecifiedMatching -OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:28497 semapv:UnspecifiedMatching -OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:TMEM151A semapv:UnspecifiedMatching -OMIM:620108 TMEM151A skos:exactMatch ncbigene:256472 semapv:UnspecifiedMatching -OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:25095 semapv:UnspecifiedMatching -OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:DCAF15 semapv:UnspecifiedMatching -OMIM:620109 DCAF15 skos:exactMatch ncbigene:90379 semapv:UnspecifiedMatching -OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:24148 semapv:UnspecifiedMatching -OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:WWC2 semapv:UnspecifiedMatching -OMIM:620110 WWC2 skos:exactMatch ncbigene:80014 semapv:UnspecifiedMatching -OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:40079 semapv:UnspecifiedMatching -OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:APOA1-AS semapv:UnspecifiedMatching -OMIM:620112 APOA1AS skos:exactMatch ncbigene:104326055 semapv:UnspecifiedMatching -OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:33661 semapv:UnspecifiedMatching -OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:MIR887 semapv:UnspecifiedMatching -OMIM:620117 MIR887 skos:exactMatch ncbigene:100126347 semapv:UnspecifiedMatching -OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:23705 semapv:UnspecifiedMatching -OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:ZNF490 semapv:UnspecifiedMatching -OMIM:620118 ZNF490 skos:exactMatch ncbigene:57474 semapv:UnspecifiedMatching -OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:22212 semapv:UnspecifiedMatching -OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:DENND2A semapv:UnspecifiedMatching -OMIM:620120 DENND2A skos:exactMatch ncbigene:27147 semapv:UnspecifiedMatching -OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:29472 semapv:UnspecifiedMatching -OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:DENND11 semapv:UnspecifiedMatching -OMIM:620122 DENND11 skos:exactMatch ncbigene:57189 semapv:UnspecifiedMatching -OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:29308 semapv:UnspecifiedMatching -OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:FBRSL1 semapv:UnspecifiedMatching -OMIM:620123 FBRSL1 skos:exactMatch ncbigene:57666 semapv:UnspecifiedMatching -OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:23707 semapv:UnspecifiedMatching -OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:ZNF492 semapv:UnspecifiedMatching -OMIM:620124 ZNF492 skos:exactMatch ncbigene:57615 semapv:UnspecifiedMatching -OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:31762 semapv:UnspecifiedMatching -OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:MIR151A semapv:UnspecifiedMatching -OMIM:620127 MIR151A skos:exactMatch ncbigene:442893 semapv:UnspecifiedMatching -OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:21386 semapv:UnspecifiedMatching -OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:FSTL5 semapv:UnspecifiedMatching -OMIM:620128 FSTL5 skos:exactMatch ncbigene:56884 semapv:UnspecifiedMatching -OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:20165 semapv:UnspecifiedMatching -OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:NYNRIN semapv:UnspecifiedMatching -OMIM:620129 NYNRIN skos:exactMatch ncbigene:57523 semapv:UnspecifiedMatching -OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:29225 semapv:UnspecifiedMatching -OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:ODF2L semapv:UnspecifiedMatching -OMIM:620130 ODF2L skos:exactMatch ncbigene:57489 semapv:UnspecifiedMatching -OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:15900 semapv:UnspecifiedMatching -OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:DEFB126 semapv:UnspecifiedMatching -OMIM:620131 DEFB126 skos:exactMatch ncbigene:81623 semapv:UnspecifiedMatching -OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:29299 semapv:UnspecifiedMatching -OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:ZSWIM5 semapv:UnspecifiedMatching -OMIM:620132 ZSWIM5 skos:exactMatch ncbigene:57643 semapv:UnspecifiedMatching -OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:20884 semapv:UnspecifiedMatching -OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:PLEKHG1 semapv:UnspecifiedMatching -OMIM:620134 PLEKHG1 skos:exactMatch ncbigene:57480 semapv:UnspecifiedMatching -OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:30535 semapv:UnspecifiedMatching -OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:NUDCD2 semapv:UnspecifiedMatching -OMIM:620136 NUDCD2 skos:exactMatch ncbigene:134492 semapv:UnspecifiedMatching -OMIM:620140 SYCN skos:exactMatch hgnc.symbol:18442 semapv:UnspecifiedMatching -OMIM:620140 SYCN skos:exactMatch hgnc.symbol:SYCN semapv:UnspecifiedMatching -OMIM:620140 SYCN skos:exactMatch ncbigene:342898 semapv:UnspecifiedMatching -OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:30460 semapv:UnspecifiedMatching -OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:CENATAC semapv:UnspecifiedMatching -OMIM:620142 CENATAC skos:exactMatch ncbigene:338657 semapv:UnspecifiedMatching -OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:37270 semapv:UnspecifiedMatching -OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:TMEM232 semapv:UnspecifiedMatching -OMIM:620143 TMEM232 skos:exactMatch ncbigene:642987 semapv:UnspecifiedMatching -OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:29314 semapv:UnspecifiedMatching -OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:CACHD1 semapv:UnspecifiedMatching -OMIM:620144 CACHD1 skos:exactMatch ncbigene:57685 semapv:UnspecifiedMatching -OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:34427 semapv:UnspecifiedMatching -OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:CRYBG3 semapv:UnspecifiedMatching -OMIM:620146 CRYBG3 skos:exactMatch ncbigene:131544 semapv:UnspecifiedMatching -OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:28401 semapv:UnspecifiedMatching -OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:RBM46 semapv:UnspecifiedMatching -OMIM:620147 RBM46 skos:exactMatch ncbigene:166863 semapv:UnspecifiedMatching -OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:29206 semapv:UnspecifiedMatching -OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:PNMA8B semapv:UnspecifiedMatching -OMIM:620159 PNMA8B skos:exactMatch ncbigene:57469 semapv:UnspecifiedMatching -OMIM:620160 IQCN skos:exactMatch hgnc.symbol:29350 semapv:UnspecifiedMatching -OMIM:620160 IQCN skos:exactMatch hgnc.symbol:IQCN semapv:UnspecifiedMatching -OMIM:620160 IQCN skos:exactMatch ncbigene:80726 semapv:UnspecifiedMatching -OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:23226 semapv:UnspecifiedMatching -OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:ZNF471 semapv:UnspecifiedMatching -OMIM:620162 ZNF471 skos:exactMatch ncbigene:57573 semapv:UnspecifiedMatching -OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:29312 semapv:UnspecifiedMatching -OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:ZFP14 semapv:UnspecifiedMatching -OMIM:620163 ZFP14 skos:exactMatch ncbigene:57677 semapv:UnspecifiedMatching -OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:23383 semapv:UnspecifiedMatching -OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:ZBTB26 semapv:UnspecifiedMatching -OMIM:620164 ZBTB26 skos:exactMatch ncbigene:57684 semapv:UnspecifiedMatching -OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:6691 semapv:UnspecifiedMatching -OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:LRCH4 semapv:UnspecifiedMatching -OMIM:620165 LRCH4 skos:exactMatch ncbigene:4034 semapv:UnspecifiedMatching -OMIM:620168 ATOSA skos:exactMatch hgnc.symbol:ATOSA semapv:UnspecifiedMatching -OMIM:620168 ATOSA skos:exactMatch ncbigene:56204 semapv:UnspecifiedMatching -OMIM:620169 ATOSB skos:exactMatch hgnc.symbol:ATOSB semapv:UnspecifiedMatching -OMIM:620169 ATOSB skos:exactMatch ncbigene:80256 semapv:UnspecifiedMatching -OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:21021 semapv:UnspecifiedMatching -OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:NHSL1 semapv:UnspecifiedMatching -OMIM:620171 NHSL1 skos:exactMatch ncbigene:57224 semapv:UnspecifiedMatching -OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:29229 semapv:UnspecifiedMatching -OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:NWD2 semapv:UnspecifiedMatching -OMIM:620172 NWD2 skos:exactMatch ncbigene:57495 semapv:UnspecifiedMatching -OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:20420 semapv:UnspecifiedMatching -OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:RUBCNL semapv:UnspecifiedMatching -OMIM:620175 RUBCNL skos:exactMatch ncbigene:80183 semapv:UnspecifiedMatching -OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:20085 semapv:UnspecifiedMatching -OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:DDX55 semapv:UnspecifiedMatching -OMIM:620176 DDX55 skos:exactMatch ncbigene:57696 semapv:UnspecifiedMatching -OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:29305 semapv:UnspecifiedMatching -OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:GRAMD1A semapv:UnspecifiedMatching -OMIM:620178 GRAMD1A skos:exactMatch ncbigene:57655 semapv:UnspecifiedMatching -OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:29214 semapv:UnspecifiedMatching -OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:GRAMD1B semapv:UnspecifiedMatching -OMIM:620179 GRAMD1B skos:exactMatch ncbigene:57476 semapv:UnspecifiedMatching -OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:25252 semapv:UnspecifiedMatching -OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:GRAMD1C semapv:UnspecifiedMatching -OMIM:620180 GRAMD1C skos:exactMatch ncbigene:54762 semapv:UnspecifiedMatching -OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:27287 semapv:UnspecifiedMatching -OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:GRAMD2A semapv:UnspecifiedMatching -OMIM:620181 GRAMD2A skos:exactMatch ncbigene:196996 semapv:UnspecifiedMatching -OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:24911 semapv:UnspecifiedMatching -OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:GRAMD2B semapv:UnspecifiedMatching -OMIM:620182 GRAMD2B skos:exactMatch ncbigene:65983 semapv:UnspecifiedMatching -OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:29368 semapv:UnspecifiedMatching -OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:CFAP74 semapv:UnspecifiedMatching -OMIM:620187 CFAP74 skos:exactMatch ncbigene:85452 semapv:UnspecifiedMatching -OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:25749 semapv:UnspecifiedMatching -OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:TANGO6 semapv:UnspecifiedMatching -OMIM:620188 TANGO6 skos:exactMatch ncbigene:79613 semapv:UnspecifiedMatching -OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:16128 semapv:UnspecifiedMatching -OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:ABHD16B semapv:UnspecifiedMatching -OMIM:620190 ABHD16B skos:exactMatch ncbigene:140701 semapv:UnspecifiedMatching -OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:29315 semapv:UnspecifiedMatching -OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:VAT1L semapv:UnspecifiedMatching -OMIM:620202 VAT1L skos:exactMatch ncbigene:57687 semapv:UnspecifiedMatching -OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:19380 semapv:UnspecifiedMatching -OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:RNU12 semapv:UnspecifiedMatching -OMIM:620204 RNU12 skos:exactMatch ncbigene:267010 semapv:UnspecifiedMatching -OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:29370 semapv:UnspecifiedMatching -OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:ITPRIP semapv:UnspecifiedMatching -OMIM:620205 ITPRIP skos:exactMatch ncbigene:85450 semapv:UnspecifiedMatching -OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:17958 semapv:UnspecifiedMatching -OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:SAMD1 semapv:UnspecifiedMatching -OMIM:620206 SAMD1 skos:exactMatch ncbigene:90378 semapv:UnspecifiedMatching -OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:26611 semapv:UnspecifiedMatching -OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:HECTD4 semapv:UnspecifiedMatching -OMIM:620209 HECTD4 skos:exactMatch ncbigene:283450 semapv:UnspecifiedMatching -OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:17699 semapv:UnspecifiedMatching -OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:SBK1 semapv:UnspecifiedMatching -OMIM:620212 SBK1 skos:exactMatch ncbigene:388228 semapv:UnspecifiedMatching -OMIM:620213 SANBR skos:exactMatch hgnc.symbol:29387 semapv:UnspecifiedMatching -OMIM:620213 SANBR skos:exactMatch hgnc.symbol:SANBR semapv:UnspecifiedMatching -OMIM:620213 SANBR skos:exactMatch ncbigene:84542 semapv:UnspecifiedMatching -OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:25842 semapv:UnspecifiedMatching -OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:HHIPL2 semapv:UnspecifiedMatching -OMIM:620214 HHIPL2 skos:exactMatch ncbigene:79802 semapv:UnspecifiedMatching -OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:33914 semapv:UnspecifiedMatching -OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:MINAR2 semapv:UnspecifiedMatching -OMIM:620215 MINAR2 skos:exactMatch ncbigene:100127206 semapv:UnspecifiedMatching -OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:22146 semapv:UnspecifiedMatching -OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:SLC5A9 semapv:UnspecifiedMatching -OMIM:620216 SLC5A9 skos:exactMatch ncbigene:200010 semapv:UnspecifiedMatching -OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:29356 semapv:UnspecifiedMatching -OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:CEP44 semapv:UnspecifiedMatching -OMIM:620217 CEP44 skos:exactMatch ncbigene:80817 semapv:UnspecifiedMatching -OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:28757 semapv:UnspecifiedMatching -OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:SHISAL2A semapv:UnspecifiedMatching -OMIM:620218 SHISAL2A skos:exactMatch ncbigene:348378 semapv:UnspecifiedMatching -OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:34236 semapv:UnspecifiedMatching -OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:SHISAL2B semapv:UnspecifiedMatching -OMIM:620219 SHISAL2B skos:exactMatch ncbigene:100132916 semapv:UnspecifiedMatching -OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:29335 semapv:UnspecifiedMatching -OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:SHISAL1 semapv:UnspecifiedMatching -OMIM:620220 SHISAL1 skos:exactMatch ncbigene:85352 semapv:UnspecifiedMatching -OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:29396 semapv:UnspecifiedMatching -OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:ELFN2 semapv:UnspecifiedMatching -OMIM:620223 ELFN2 skos:exactMatch ncbigene:114794 semapv:UnspecifiedMatching -OMIM:620225 SOGA1 skos:exactMatch hgnc.symbol:MTCL2 semapv:UnspecifiedMatching -OMIM:620225 SOGA1 skos:exactMatch ncbigene:140710 semapv:UnspecifiedMatching -OMIM:620226 USP37 skos:exactMatch hgnc.symbol:20063 semapv:UnspecifiedMatching -OMIM:620226 USP37 skos:exactMatch hgnc.symbol:USP37 semapv:UnspecifiedMatching -OMIM:620226 USP37 skos:exactMatch ncbigene:57695 semapv:UnspecifiedMatching -OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:25378 semapv:UnspecifiedMatching -OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:FHIP1B semapv:UnspecifiedMatching -OMIM:620229 FHIP1B skos:exactMatch ncbigene:84067 semapv:UnspecifiedMatching -OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:16492 semapv:UnspecifiedMatching -OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:FHIP2B semapv:UnspecifiedMatching -OMIM:620230 FHIP2B skos:exactMatch ncbigene:64760 semapv:UnspecifiedMatching -OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:29424 semapv:UnspecifiedMatching -OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:ANKRD24 semapv:UnspecifiedMatching -OMIM:620234 ANKRD24 skos:exactMatch ncbigene:170961 semapv:UnspecifiedMatching -OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:53652 semapv:UnspecifiedMatching -OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:B3GALT9 semapv:UnspecifiedMatching -OMIM:620239 B3GALT9 skos:exactMatch ncbigene:100288842 semapv:UnspecifiedMatching -OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:27453 semapv:UnspecifiedMatching -OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:TMEM80 semapv:UnspecifiedMatching -OMIM:620248 TMEM80 skos:exactMatch ncbigene:283232 semapv:UnspecifiedMatching -OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:20362 semapv:UnspecifiedMatching -OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:CEP170B semapv:UnspecifiedMatching -OMIM:620251 CEP170B skos:exactMatch ncbigene:283638 semapv:UnspecifiedMatching -OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:1363 semapv:UnspecifiedMatching -OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:TMEM245 semapv:UnspecifiedMatching -OMIM:620252 TMEM245 skos:exactMatch ncbigene:23731 semapv:UnspecifiedMatching -OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:25905 semapv:UnspecifiedMatching -OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:RNFT2 semapv:UnspecifiedMatching -OMIM:620254 RNFT2 skos:exactMatch ncbigene:84900 semapv:UnspecifiedMatching -OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:26196 semapv:UnspecifiedMatching -OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:MFSD13A semapv:UnspecifiedMatching -OMIM:620255 MFSD13A skos:exactMatch ncbigene:79847 semapv:UnspecifiedMatching -OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:20795 semapv:UnspecifiedMatching -OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:CLRN3 semapv:UnspecifiedMatching -OMIM:620256 CLRN3 skos:exactMatch ncbigene:119467 semapv:UnspecifiedMatching -OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:30293 semapv:UnspecifiedMatching -OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:TMEM158 semapv:UnspecifiedMatching -OMIM:620257 TMEM158 skos:exactMatch ncbigene:25907 semapv:UnspecifiedMatching -OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:26042 semapv:UnspecifiedMatching -OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:TMEM160 semapv:UnspecifiedMatching -OMIM:620258 TMEM160 skos:exactMatch ncbigene:54958 semapv:UnspecifiedMatching -OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:23643 semapv:UnspecifiedMatching -OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:ANKRD18A semapv:UnspecifiedMatching -OMIM:620259 ANKRD18A skos:exactMatch ncbigene:253650 semapv:UnspecifiedMatching -OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:29397 semapv:UnspecifiedMatching -OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:TMEM132B semapv:UnspecifiedMatching -OMIM:620260 TMEM132B skos:exactMatch ncbigene:114795 semapv:UnspecifiedMatching -OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:28430 semapv:UnspecifiedMatching -OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:EMC6 semapv:UnspecifiedMatching -OMIM:620261 EMC6 skos:exactMatch ncbigene:83460 semapv:UnspecifiedMatching -OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:24079 semapv:UnspecifiedMatching -OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:ANKRD36 semapv:UnspecifiedMatching -OMIM:620262 ANKRD36 skos:exactMatch ncbigene:375248 semapv:UnspecifiedMatching -OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:26699 semapv:UnspecifiedMatching -OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:OOSP2 semapv:UnspecifiedMatching -OMIM:620263 OOSP2 skos:exactMatch ncbigene:219990 semapv:UnspecifiedMatching -OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:28180 semapv:UnspecifiedMatching -OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:PGAP4 semapv:UnspecifiedMatching -OMIM:620264 PGAP4 skos:exactMatch ncbigene:84302 semapv:UnspecifiedMatching -OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:27750 semapv:UnspecifiedMatching -OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:RIMOC1 semapv:UnspecifiedMatching -OMIM:620266 RIMOC1 skos:exactMatch ncbigene:285636 semapv:UnspecifiedMatching -OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:24326 semapv:UnspecifiedMatching -OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:RMC1 semapv:UnspecifiedMatching -OMIM:620267 RMC1 skos:exactMatch ncbigene:29919 semapv:UnspecifiedMatching -OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:29363 semapv:UnspecifiedMatching -OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:FHDC1 semapv:UnspecifiedMatching -OMIM:620268 FHDC1 skos:exactMatch ncbigene:85462 semapv:UnspecifiedMatching -OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:28948 semapv:UnspecifiedMatching -OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:TMEM41B semapv:UnspecifiedMatching -OMIM:620271 TMEM41B skos:exactMatch ncbigene:440026 semapv:UnspecifiedMatching -OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:27563 semapv:UnspecifiedMatching -OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:TMEM235 semapv:UnspecifiedMatching -OMIM:620272 TMEM235 skos:exactMatch ncbigene:283999 semapv:UnspecifiedMatching -OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:23999 semapv:UnspecifiedMatching -OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:EMC3 semapv:UnspecifiedMatching -OMIM:620273 EMC3 skos:exactMatch ncbigene:55831 semapv:UnspecifiedMatching -OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:29934 semapv:UnspecifiedMatching -OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:WDR87 semapv:UnspecifiedMatching -OMIM:620274 WDR87 skos:exactMatch ncbigene:83889 semapv:UnspecifiedMatching -OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:26383 semapv:UnspecifiedMatching -OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:DAW1 semapv:UnspecifiedMatching -OMIM:620279 DAW1 skos:exactMatch ncbigene:164781 semapv:UnspecifiedMatching -OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:26572 semapv:UnspecifiedMatching -OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:TMEM71 semapv:UnspecifiedMatching -OMIM:620287 TMEM71 skos:exactMatch ncbigene:137835 semapv:UnspecifiedMatching -OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:30233 semapv:UnspecifiedMatching -OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:TEDDM1 semapv:UnspecifiedMatching -OMIM:620288 TEDDM1 skos:exactMatch ncbigene:127670 semapv:UnspecifiedMatching -OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:28837 semapv:UnspecifiedMatching -OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:TMEM234 semapv:UnspecifiedMatching -OMIM:620289 TMEM234 skos:exactMatch ncbigene:56063 semapv:UnspecifiedMatching -OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:25201 semapv:UnspecifiedMatching -OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:TMEM219 semapv:UnspecifiedMatching -OMIM:620290 TMEM219 skos:exactMatch ncbigene:124446 semapv:UnspecifiedMatching -OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:17956 semapv:UnspecifiedMatching -OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:WDR18 semapv:UnspecifiedMatching -OMIM:620291 WDR18 skos:exactMatch ncbigene:57418 semapv:UnspecifiedMatching -OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:1168 semapv:UnspecifiedMatching -OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:TMEM9B semapv:UnspecifiedMatching -OMIM:620293 TMEM9B skos:exactMatch ncbigene:56674 semapv:UnspecifiedMatching -OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:23686 semapv:UnspecifiedMatching -OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:DCAF10 semapv:UnspecifiedMatching -OMIM:620295 DCAF10 skos:exactMatch ncbigene:79269 semapv:UnspecifiedMatching -OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:20753 semapv:UnspecifiedMatching -OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:SLC35A4 semapv:UnspecifiedMatching -OMIM:620297 SLC35A4 skos:exactMatch ncbigene:113829 semapv:UnspecifiedMatching -OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:20792 semapv:UnspecifiedMatching -OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:SLC35A5 semapv:UnspecifiedMatching -OMIM:620298 SLC35A5 skos:exactMatch ncbigene:55032 semapv:UnspecifiedMatching -OMIM:620299 MFSD4A skos:exactMatch hgnc.symbol:25433 semapv:UnspecifiedMatching -OMIM:620299 MFSD4A skos:exactMatch hgnc.symbol:MFSD4A semapv:UnspecifiedMatching -OMIM:620299 MFSD4A skos:exactMatch ncbigene:148808 semapv:UnspecifiedMatching -OMIM:620301 MFSD9 skos:exactMatch hgnc.symbol:28158 semapv:UnspecifiedMatching -OMIM:620301 MFSD9 skos:exactMatch hgnc.symbol:MFSD9 semapv:UnspecifiedMatching -OMIM:620301 MFSD9 skos:exactMatch ncbigene:84804 semapv:UnspecifiedMatching -OMIM:620302 WDR76 skos:exactMatch hgnc.symbol:25773 semapv:UnspecifiedMatching -OMIM:620302 WDR76 skos:exactMatch hgnc.symbol:WDR76 semapv:UnspecifiedMatching -OMIM:620302 WDR76 skos:exactMatch ncbigene:79968 semapv:UnspecifiedMatching -OMIM:620304 NOL9 skos:exactMatch hgnc.symbol:26265 semapv:UnspecifiedMatching -OMIM:620304 NOL9 skos:exactMatch hgnc.symbol:NOL9 semapv:UnspecifiedMatching -OMIM:620304 NOL9 skos:exactMatch ncbigene:79707 semapv:UnspecifiedMatching -OMIM:620307 WDR24 skos:exactMatch hgnc.symbol:20852 semapv:UnspecifiedMatching -OMIM:620307 WDR24 skos:exactMatch hgnc.symbol:WDR24 semapv:UnspecifiedMatching -OMIM:620307 WDR24 skos:exactMatch ncbigene:84219 semapv:UnspecifiedMatching -OMIM:620308 MFSD3 skos:exactMatch hgnc.symbol:25157 semapv:UnspecifiedMatching -OMIM:620308 MFSD3 skos:exactMatch hgnc.symbol:MFSD3 semapv:UnspecifiedMatching -OMIM:620308 MFSD3 skos:exactMatch ncbigene:113655 semapv:UnspecifiedMatching -OMIM:620309 FAM171B skos:exactMatch hgnc.symbol:29412 semapv:UnspecifiedMatching -OMIM:620309 FAM171B skos:exactMatch hgnc.symbol:FAM171B semapv:UnspecifiedMatching -OMIM:620309 FAM171B skos:exactMatch ncbigene:165215 semapv:UnspecifiedMatching -OMIM:620318 SLC49A3 skos:exactMatch hgnc.symbol:26177 semapv:UnspecifiedMatching -OMIM:620318 SLC49A3 skos:exactMatch hgnc.symbol:SLC49A3 semapv:UnspecifiedMatching -OMIM:620318 SLC49A3 skos:exactMatch ncbigene:84179 semapv:UnspecifiedMatching -OMIM:620324 SLC15A5 skos:exactMatch hgnc.symbol:33455 semapv:UnspecifiedMatching -OMIM:620324 SLC15A5 skos:exactMatch hgnc.symbol:SLC15A5 semapv:UnspecifiedMatching -OMIM:620324 SLC15A5 skos:exactMatch ncbigene:729025 semapv:UnspecifiedMatching -OMIM:620325 TMEM144 skos:exactMatch hgnc.symbol:25633 semapv:UnspecifiedMatching -OMIM:620325 TMEM144 skos:exactMatch hgnc.symbol:TMEM144 semapv:UnspecifiedMatching -OMIM:620325 TMEM144 skos:exactMatch ncbigene:55314 semapv:UnspecifiedMatching -OMIM:620328 SLC44A3 skos:exactMatch hgnc.symbol:28689 semapv:UnspecifiedMatching -OMIM:620328 SLC44A3 skos:exactMatch hgnc.symbol:SLC44A3 semapv:UnspecifiedMatching -OMIM:620328 SLC44A3 skos:exactMatch ncbigene:126969 semapv:UnspecifiedMatching -OMIM:620329 SLC44A5 skos:exactMatch hgnc.symbol:28524 semapv:UnspecifiedMatching -OMIM:620329 SLC44A5 skos:exactMatch hgnc.symbol:SLC44A5 semapv:UnspecifiedMatching -OMIM:620329 SLC44A5 skos:exactMatch ncbigene:204962 semapv:UnspecifiedMatching -OMIM:620334 TRIM42 skos:exactMatch hgnc.symbol:19014 semapv:UnspecifiedMatching -OMIM:620334 TRIM42 skos:exactMatch hgnc.symbol:TRIM42 semapv:UnspecifiedMatching -OMIM:620334 TRIM42 skos:exactMatch ncbigene:287015 semapv:UnspecifiedMatching -OMIM:620335 CDC20B skos:exactMatch hgnc.symbol:24222 semapv:UnspecifiedMatching -OMIM:620335 CDC20B skos:exactMatch hgnc.symbol:CDC20B semapv:UnspecifiedMatching -OMIM:620335 CDC20B skos:exactMatch ncbigene:166979 semapv:UnspecifiedMatching -OMIM:620336 ZSWIM3 skos:exactMatch hgnc.symbol:16157 semapv:UnspecifiedMatching -OMIM:620336 ZSWIM3 skos:exactMatch hgnc.symbol:ZSWIM3 semapv:UnspecifiedMatching -OMIM:620336 ZSWIM3 skos:exactMatch ncbigene:140831 semapv:UnspecifiedMatching -OMIM:620337 SLC35E1 skos:exactMatch hgnc.symbol:20803 semapv:UnspecifiedMatching -OMIM:620337 SLC35E1 skos:exactMatch hgnc.symbol:SLC35E1 semapv:UnspecifiedMatching -OMIM:620337 SLC35E1 skos:exactMatch ncbigene:79939 semapv:UnspecifiedMatching -OMIM:620338 SLC9C2 skos:exactMatch hgnc.symbol:28664 semapv:UnspecifiedMatching -OMIM:620338 SLC9C2 skos:exactMatch hgnc.symbol:SLC9C2 semapv:UnspecifiedMatching -OMIM:620338 SLC9C2 skos:exactMatch ncbigene:284525 semapv:UnspecifiedMatching -OMIM:620339 SLC23A3 skos:exactMatch hgnc.symbol:20601 semapv:UnspecifiedMatching -OMIM:620339 SLC23A3 skos:exactMatch hgnc.symbol:SLC23A3 semapv:UnspecifiedMatching -OMIM:620339 SLC23A3 skos:exactMatch ncbigene:151295 semapv:UnspecifiedMatching -OMIM:620340 NIPAL1 skos:exactMatch hgnc.symbol:27194 semapv:UnspecifiedMatching -OMIM:620340 NIPAL1 skos:exactMatch hgnc.symbol:NIPAL1 semapv:UnspecifiedMatching -OMIM:620340 NIPAL1 skos:exactMatch ncbigene:152519 semapv:UnspecifiedMatching -OMIM:620341 WDR75 skos:exactMatch hgnc.symbol:25725 semapv:UnspecifiedMatching -OMIM:620341 WDR75 skos:exactMatch hgnc.symbol:WDR75 semapv:UnspecifiedMatching -OMIM:620341 WDR75 skos:exactMatch ncbigene:84128 semapv:UnspecifiedMatching -OMIM:620345 MFSD5 skos:exactMatch hgnc.symbol:28156 semapv:UnspecifiedMatching -OMIM:620345 MFSD5 skos:exactMatch hgnc.symbol:MFSD5 semapv:UnspecifiedMatching -OMIM:620345 MFSD5 skos:exactMatch ncbigene:84975 semapv:UnspecifiedMatching -OMIM:620346 MFSD11 skos:exactMatch hgnc.symbol:25458 semapv:UnspecifiedMatching -OMIM:620346 MFSD11 skos:exactMatch hgnc.symbol:MFSD11 semapv:UnspecifiedMatching -OMIM:620346 MFSD11 skos:exactMatch ncbigene:79157 semapv:UnspecifiedMatching -OMIM:620347 MFSD14A skos:exactMatch hgnc.symbol:23363 semapv:UnspecifiedMatching -OMIM:620347 MFSD14A skos:exactMatch hgnc.symbol:MFSD14A semapv:UnspecifiedMatching -OMIM:620347 MFSD14A skos:exactMatch ncbigene:64645 semapv:UnspecifiedMatching -OMIM:620348 MFSD14B skos:exactMatch hgnc.symbol:23376 semapv:UnspecifiedMatching -OMIM:620348 MFSD14B skos:exactMatch hgnc.symbol:MFSD14B semapv:UnspecifiedMatching -OMIM:620348 MFSD14B skos:exactMatch ncbigene:84641 semapv:UnspecifiedMatching -OMIM:620349 SLC35F1 skos:exactMatch hgnc.symbol:21483 semapv:UnspecifiedMatching -OMIM:620349 SLC35F1 skos:exactMatch hgnc.symbol:SLC35F1 semapv:UnspecifiedMatching -OMIM:620349 SLC35F1 skos:exactMatch ncbigene:222553 semapv:UnspecifiedMatching -OMIM:620350 SLC35F2 skos:exactMatch hgnc.symbol:23615 semapv:UnspecifiedMatching -OMIM:620350 SLC35F2 skos:exactMatch hgnc.symbol:SLC35F2 semapv:UnspecifiedMatching -OMIM:620350 SLC35F2 skos:exactMatch ncbigene:54733 semapv:UnspecifiedMatching -OMIM:620355 SLC35E3 skos:exactMatch hgnc.symbol:20864 semapv:UnspecifiedMatching -OMIM:620355 SLC35E3 skos:exactMatch hgnc.symbol:SLC35E3 semapv:UnspecifiedMatching -OMIM:620355 SLC35E3 skos:exactMatch ncbigene:55508 semapv:UnspecifiedMatching -OMIM:620360 TPRX2 skos:exactMatch hgnc.symbol:32175 semapv:UnspecifiedMatching -OMIM:620360 TPRX2 skos:exactMatch hgnc.symbol:TPRX2 semapv:UnspecifiedMatching -OMIM:620360 TPRX2 skos:exactMatch ncbigene:503627 semapv:UnspecifiedMatching -OMIM:620361 RNU5D-1 skos:exactMatch hgnc.symbol:10214 semapv:UnspecifiedMatching -OMIM:620361 RNU5D-1 skos:exactMatch hgnc.symbol:RNU5D-1 semapv:UnspecifiedMatching -OMIM:620361 RNU5D-1 skos:exactMatch ncbigene:26830 semapv:UnspecifiedMatching -OMIM:620362 RNU5E-1 skos:exactMatch hgnc.symbol:10215 semapv:UnspecifiedMatching -OMIM:620362 RNU5E-1 skos:exactMatch hgnc.symbol:RNU5E-1 semapv:UnspecifiedMatching -OMIM:620362 RNU5E-1 skos:exactMatch ncbigene:26829 semapv:UnspecifiedMatching -OMIM:620363 RNU5F-1 skos:exactMatch hgnc.symbol:10216 semapv:UnspecifiedMatching -OMIM:620363 RNU5F-1 skos:exactMatch hgnc.symbol:RNU5F-1 semapv:UnspecifiedMatching -OMIM:620363 RNU5F-1 skos:exactMatch ncbigene:26828 semapv:UnspecifiedMatching -OMIM:620373 ADISSP skos:exactMatch hgnc.symbol:ADISSP semapv:UnspecifiedMatching -OMIM:620373 ADISSP skos:exactMatch ncbigene:54976 semapv:UnspecifiedMatching -OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:21099 semapv:UnspecifiedMatching -OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:ARMC12 semapv:UnspecifiedMatching -OMIM:620377 ARMC12 skos:exactMatch ncbigene:221481 semapv:UnspecifiedMatching -OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:14648 semapv:UnspecifiedMatching -OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:LETM2 semapv:UnspecifiedMatching -OMIM:620380 LETM2 skos:exactMatch ncbigene:137994 semapv:UnspecifiedMatching -OMIM:620381 CFAP61 skos:exactMatch hgnc.symbol:15872 semapv:UnspecifiedMatching -OMIM:620381 CFAP61 skos:exactMatch hgnc.symbol:CFAP61 semapv:UnspecifiedMatching -OMIM:620381 CFAP61 skos:exactMatch ncbigene:26074 semapv:UnspecifiedMatching -OMIM:620382 ZCCHC9 skos:exactMatch hgnc.symbol:25424 semapv:UnspecifiedMatching -OMIM:620382 ZCCHC9 skos:exactMatch hgnc.symbol:ZCCHC9 semapv:UnspecifiedMatching -OMIM:620382 ZCCHC9 skos:exactMatch ncbigene:84240 semapv:UnspecifiedMatching -OMIM:620385 ARMC1 skos:exactMatch hgnc.symbol:17684 semapv:UnspecifiedMatching -OMIM:620385 ARMC1 skos:exactMatch hgnc.symbol:ARMC1 semapv:UnspecifiedMatching -OMIM:620385 ARMC1 skos:exactMatch ncbigene:55156 semapv:UnspecifiedMatching -OMIM:620387 TBC1D21 skos:exactMatch hgnc.symbol:28536 semapv:UnspecifiedMatching -OMIM:620387 TBC1D21 skos:exactMatch hgnc.symbol:TBC1D21 semapv:UnspecifiedMatching -OMIM:620387 TBC1D21 skos:exactMatch ncbigene:161514 semapv:UnspecifiedMatching -OMIM:620388 DBNDD1 skos:exactMatch hgnc.symbol:28455 semapv:UnspecifiedMatching -OMIM:620388 DBNDD1 skos:exactMatch hgnc.symbol:DBNDD1 semapv:UnspecifiedMatching -OMIM:620388 DBNDD1 skos:exactMatch ncbigene:79007 semapv:UnspecifiedMatching -OMIM:620390 HEATR1 skos:exactMatch hgnc.symbol:25517 semapv:UnspecifiedMatching -OMIM:620390 HEATR1 skos:exactMatch hgnc.symbol:HEATR1 semapv:UnspecifiedMatching -OMIM:620390 HEATR1 skos:exactMatch ncbigene:55127 semapv:UnspecifiedMatching -OMIM:620391 PARP16 skos:exactMatch hgnc.symbol:26040 semapv:UnspecifiedMatching -OMIM:620391 PARP16 skos:exactMatch hgnc.symbol:PARP16 semapv:UnspecifiedMatching -OMIM:620391 PARP16 skos:exactMatch ncbigene:54956 semapv:UnspecifiedMatching -OMIM:620392 ABITRAM skos:exactMatch hgnc.symbol:1364 semapv:UnspecifiedMatching -OMIM:620392 ABITRAM skos:exactMatch hgnc.symbol:ABITRAM semapv:UnspecifiedMatching -OMIM:620392 ABITRAM skos:exactMatch ncbigene:54942 semapv:UnspecifiedMatching -OMIM:620394 PSKH2 skos:exactMatch hgnc.symbol:18997 semapv:UnspecifiedMatching -OMIM:620394 PSKH2 skos:exactMatch hgnc.symbol:PSKH2 semapv:UnspecifiedMatching -OMIM:620394 PSKH2 skos:exactMatch ncbigene:85481 semapv:UnspecifiedMatching -OMIM:620395 CCNJ skos:exactMatch hgnc.symbol:23434 semapv:UnspecifiedMatching -OMIM:620395 CCNJ skos:exactMatch hgnc.symbol:CCNJ semapv:UnspecifiedMatching -OMIM:620395 CCNJ skos:exactMatch ncbigene:54619 semapv:UnspecifiedMatching -OMIM:620396 CCNP skos:exactMatch hgnc.symbol:25805 semapv:UnspecifiedMatching -OMIM:620396 CCNP skos:exactMatch hgnc.symbol:CCNP semapv:UnspecifiedMatching -OMIM:620396 CCNP skos:exactMatch ncbigene:79935 semapv:UnspecifiedMatching -OMIM:620397 AUNIP skos:exactMatch hgnc.symbol:28363 semapv:UnspecifiedMatching -OMIM:620397 AUNIP skos:exactMatch hgnc.symbol:AUNIP semapv:UnspecifiedMatching -OMIM:620397 AUNIP skos:exactMatch ncbigene:79000 semapv:UnspecifiedMatching -OMIM:620399 ADCK1 skos:exactMatch hgnc.symbol:19038 semapv:UnspecifiedMatching -OMIM:620399 ADCK1 skos:exactMatch hgnc.symbol:ADCK1 semapv:UnspecifiedMatching -OMIM:620399 ADCK1 skos:exactMatch ncbigene:57143 semapv:UnspecifiedMatching -OMIM:620403 INKA2 skos:exactMatch hgnc.symbol:28045 semapv:UnspecifiedMatching -OMIM:620403 INKA2 skos:exactMatch hgnc.symbol:INKA2 semapv:UnspecifiedMatching -OMIM:620403 INKA2 skos:exactMatch ncbigene:55924 semapv:UnspecifiedMatching -OMIM:620404 CSRNP2 skos:exactMatch hgnc.symbol:16006 semapv:UnspecifiedMatching -OMIM:620404 CSRNP2 skos:exactMatch hgnc.symbol:CSRNP2 semapv:UnspecifiedMatching -OMIM:620404 CSRNP2 skos:exactMatch ncbigene:81566 semapv:UnspecifiedMatching -OMIM:620405 CSRNP3 skos:exactMatch hgnc.symbol:30729 semapv:UnspecifiedMatching -OMIM:620405 CSRNP3 skos:exactMatch hgnc.symbol:CSRNP3 semapv:UnspecifiedMatching -OMIM:620405 CSRNP3 skos:exactMatch ncbigene:80034 semapv:UnspecifiedMatching -OMIM:620406 MCTS2 skos:exactMatch hgnc.symbol:49760 semapv:UnspecifiedMatching -OMIM:620406 MCTS2 skos:exactMatch hgnc.symbol:MCTS2 semapv:UnspecifiedMatching -OMIM:620406 MCTS2 skos:exactMatch ncbigene:100101490 semapv:UnspecifiedMatching -OMIM:620407 MIMT1 skos:exactMatch hgnc.symbol:33464 semapv:UnspecifiedMatching -OMIM:620407 MIMT1 skos:exactMatch hgnc.symbol:MIMT1 semapv:UnspecifiedMatching -OMIM:620407 MIMT1 skos:exactMatch ncbigene:100073347 semapv:UnspecifiedMatching -OMIM:620408 MIR337 skos:exactMatch hgnc.symbol:31774 semapv:UnspecifiedMatching -OMIM:620408 MIR337 skos:exactMatch hgnc.symbol:MIR337 semapv:UnspecifiedMatching -OMIM:620408 MIR337 skos:exactMatch ncbigene:442905 semapv:UnspecifiedMatching -OMIM:620412 NAMA skos:exactMatch hgnc.symbol:42408 semapv:UnspecifiedMatching -OMIM:620412 NAMA skos:exactMatch hgnc.symbol:NAMA semapv:UnspecifiedMatching -OMIM:620412 NAMA skos:exactMatch ncbigene:100996569 semapv:UnspecifiedMatching -OMIM:620413 GASK1A skos:exactMatch hgnc.symbol:24485 semapv:UnspecifiedMatching -OMIM:620413 GASK1A skos:exactMatch hgnc.symbol:GASK1A semapv:UnspecifiedMatching -OMIM:620413 GASK1A skos:exactMatch ncbigene:729085 semapv:UnspecifiedMatching -OMIM:620414 SBK2 skos:exactMatch hgnc.symbol:34416 semapv:UnspecifiedMatching -OMIM:620414 SBK2 skos:exactMatch hgnc.symbol:SBK2 semapv:UnspecifiedMatching -OMIM:620414 SBK2 skos:exactMatch ncbigene:646643 semapv:UnspecifiedMatching -OMIM:620418 NRIR skos:exactMatch hgnc.symbol:51269 semapv:UnspecifiedMatching -OMIM:620418 NRIR skos:exactMatch hgnc.symbol:NRIR semapv:UnspecifiedMatching -OMIM:620418 NRIR skos:exactMatch ncbigene:104326052 semapv:UnspecifiedMatching -OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:33869 semapv:UnspecifiedMatching -OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:CCNI2 semapv:UnspecifiedMatching -OMIM:620419 CCNI2 skos:exactMatch ncbigene:645121 semapv:UnspecifiedMatching -OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:24318 semapv:UnspecifiedMatching -OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:HIGD1B semapv:UnspecifiedMatching -OMIM:620420 HIGD1B skos:exactMatch ncbigene:51751 semapv:UnspecifiedMatching -OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:26657 semapv:UnspecifiedMatching -OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:DCAF4L2 semapv:UnspecifiedMatching -OMIM:620421 DCAF4L2 skos:exactMatch ncbigene:138009 semapv:UnspecifiedMatching -OMIM:620424 ZAR1L skos:exactMatch hgnc.symbol:37116 semapv:UnspecifiedMatching -OMIM:620424 ZAR1L skos:exactMatch hgnc.symbol:ZAR1L semapv:UnspecifiedMatching -OMIM:620424 ZAR1L skos:exactMatch ncbigene:646799 semapv:UnspecifiedMatching -OMIM:620426 INKA1 skos:exactMatch hgnc.symbol:32480 semapv:UnspecifiedMatching -OMIM:620426 INKA1 skos:exactMatch hgnc.symbol:INKA1 semapv:UnspecifiedMatching -OMIM:620426 INKA1 skos:exactMatch ncbigene:389119 semapv:UnspecifiedMatching -OMIM:620429 TMEM64 skos:exactMatch hgnc.symbol:25441 semapv:UnspecifiedMatching -OMIM:620429 TMEM64 skos:exactMatch hgnc.symbol:TMEM64 semapv:UnspecifiedMatching -OMIM:620429 TMEM64 skos:exactMatch ncbigene:169200 semapv:UnspecifiedMatching -OMIM:620431 FLYWCH1 skos:exactMatch hgnc.symbol:25404 semapv:UnspecifiedMatching -OMIM:620431 FLYWCH1 skos:exactMatch hgnc.symbol:FLYWCH1 semapv:UnspecifiedMatching -OMIM:620431 FLYWCH1 skos:exactMatch ncbigene:84256 semapv:UnspecifiedMatching -OMIM:620432 OCSTAMP skos:exactMatch hgnc.symbol:16116 semapv:UnspecifiedMatching -OMIM:620432 OCSTAMP skos:exactMatch hgnc.symbol:OCSTAMP semapv:UnspecifiedMatching -OMIM:620432 OCSTAMP skos:exactMatch ncbigene:128506 semapv:UnspecifiedMatching -OMIM:620433 TMEM186 skos:exactMatch hgnc.symbol:24530 semapv:UnspecifiedMatching -OMIM:620433 TMEM186 skos:exactMatch hgnc.symbol:TMEM186 semapv:UnspecifiedMatching -OMIM:620433 TMEM186 skos:exactMatch ncbigene:25880 semapv:UnspecifiedMatching -OMIM:620434 TMEM223 skos:exactMatch hgnc.symbol:28464 semapv:UnspecifiedMatching -OMIM:620434 TMEM223 skos:exactMatch hgnc.symbol:TMEM223 semapv:UnspecifiedMatching -OMIM:620434 TMEM223 skos:exactMatch ncbigene:79064 semapv:UnspecifiedMatching -OMIM:620435 UQCC5 skos:exactMatch hgnc.symbol:UQCC5 semapv:UnspecifiedMatching -OMIM:620435 UQCC5 skos:exactMatch ncbigene:440957 semapv:UnspecifiedMatching -OMIM:620436 TMED9 skos:exactMatch hgnc.symbol:24878 semapv:UnspecifiedMatching -OMIM:620436 TMED9 skos:exactMatch hgnc.symbol:TMED9 semapv:UnspecifiedMatching -OMIM:620436 TMED9 skos:exactMatch ncbigene:54732 semapv:UnspecifiedMatching -OMIM:620437 TMED3 skos:exactMatch hgnc.symbol:28889 semapv:UnspecifiedMatching -OMIM:620437 TMED3 skos:exactMatch hgnc.symbol:TMED3 semapv:UnspecifiedMatching -OMIM:620437 TMED3 skos:exactMatch ncbigene:23423 semapv:UnspecifiedMatching -OMIM:620440 GAPT skos:exactMatch hgnc.symbol:26588 semapv:UnspecifiedMatching -OMIM:620440 GAPT skos:exactMatch hgnc.symbol:GAPT semapv:UnspecifiedMatching -OMIM:620440 GAPT skos:exactMatch ncbigene:202309 semapv:UnspecifiedMatching -OMIM:620441 ZNF470 skos:exactMatch hgnc.symbol:22220 semapv:UnspecifiedMatching -OMIM:620441 ZNF470 skos:exactMatch hgnc.symbol:ZNF470 semapv:UnspecifiedMatching -OMIM:620441 ZNF470 skos:exactMatch ncbigene:388566 semapv:UnspecifiedMatching -OMIM:620446 TSPAN17 skos:exactMatch hgnc.symbol:13594 semapv:UnspecifiedMatching -OMIM:620446 TSPAN17 skos:exactMatch hgnc.symbol:TSPAN17 semapv:UnspecifiedMatching -OMIM:620446 TSPAN17 skos:exactMatch ncbigene:26262 semapv:UnspecifiedMatching -OMIM:620463 EDRF1 skos:exactMatch hgnc.symbol:24640 semapv:UnspecifiedMatching -OMIM:620463 EDRF1 skos:exactMatch hgnc.symbol:EDRF1 semapv:UnspecifiedMatching -OMIM:620463 EDRF1 skos:exactMatch ncbigene:26098 semapv:UnspecifiedMatching -OMIM:620464 RCOR3 skos:exactMatch hgnc.symbol:25594 semapv:UnspecifiedMatching -OMIM:620464 RCOR3 skos:exactMatch hgnc.symbol:RCOR3 semapv:UnspecifiedMatching -OMIM:620464 RCOR3 skos:exactMatch ncbigene:55758 semapv:UnspecifiedMatching -OMIM:620466 ZNF28 skos:exactMatch hgnc.symbol:13073 semapv:UnspecifiedMatching -OMIM:620466 ZNF28 skos:exactMatch hgnc.symbol:ZNF28 semapv:UnspecifiedMatching -OMIM:620466 ZNF28 skos:exactMatch ncbigene:7576 semapv:UnspecifiedMatching -OMIM:620467 LARP1B skos:exactMatch hgnc.symbol:24704 semapv:UnspecifiedMatching -OMIM:620467 LARP1B skos:exactMatch hgnc.symbol:LARP1B semapv:UnspecifiedMatching -OMIM:620467 LARP1B skos:exactMatch ncbigene:55132 semapv:UnspecifiedMatching -OMIM:620468 VRTN skos:exactMatch hgnc.symbol:20223 semapv:UnspecifiedMatching -OMIM:620468 VRTN skos:exactMatch hgnc.symbol:VRTN semapv:UnspecifiedMatching -OMIM:620468 VRTN skos:exactMatch ncbigene:55237 semapv:UnspecifiedMatching -OMIM:620471 FOXO3B skos:exactMatch hgnc.symbol:3822 semapv:UnspecifiedMatching -OMIM:620471 FOXO3B skos:exactMatch hgnc.symbol:FOXO3B semapv:UnspecifiedMatching -OMIM:620471 FOXO3B skos:exactMatch ncbigene:2310 semapv:UnspecifiedMatching -OMIM:620472 TRAPPC2B skos:exactMatch hgnc.symbol:10710 semapv:UnspecifiedMatching -OMIM:620472 TRAPPC2B skos:exactMatch hgnc.symbol:TRAPPC2B semapv:UnspecifiedMatching -OMIM:620472 TRAPPC2B skos:exactMatch ncbigene:10597 semapv:UnspecifiedMatching -OMIM:620473 ZNHIT6 skos:exactMatch hgnc.symbol:26089 semapv:UnspecifiedMatching -OMIM:620473 ZNHIT6 skos:exactMatch hgnc.symbol:ZNHIT6 semapv:UnspecifiedMatching -OMIM:620473 ZNHIT6 skos:exactMatch ncbigene:54680 semapv:UnspecifiedMatching -OMIM:620474 AAMDC skos:exactMatch hgnc.symbol:30205 semapv:UnspecifiedMatching -OMIM:620474 AAMDC skos:exactMatch hgnc.symbol:AAMDC semapv:UnspecifiedMatching -OMIM:620474 AAMDC skos:exactMatch ncbigene:28971 semapv:UnspecifiedMatching -OMIM:620476 MRTO4 skos:exactMatch hgnc.symbol:18477 semapv:UnspecifiedMatching -OMIM:620476 MRTO4 skos:exactMatch hgnc.symbol:MRTO4 semapv:UnspecifiedMatching -OMIM:620476 MRTO4 skos:exactMatch ncbigene:51154 semapv:UnspecifiedMatching -OMIM:620477 ZG16B skos:exactMatch hgnc.symbol:30456 semapv:UnspecifiedMatching -OMIM:620477 ZG16B skos:exactMatch hgnc.symbol:ZG16B semapv:UnspecifiedMatching -OMIM:620477 ZG16B skos:exactMatch ncbigene:124220 semapv:UnspecifiedMatching -OMIM:620479 CSTPP1 skos:exactMatch hgnc.symbol:28720 semapv:UnspecifiedMatching -OMIM:620479 CSTPP1 skos:exactMatch hgnc.symbol:CSTPP1 semapv:UnspecifiedMatching -OMIM:620479 CSTPP1 skos:exactMatch ncbigene:79096 semapv:UnspecifiedMatching -OMIM:620480 TRIML2 skos:exactMatch hgnc.symbol:26378 semapv:UnspecifiedMatching -OMIM:620480 TRIML2 skos:exactMatch hgnc.symbol:TRIML2 semapv:UnspecifiedMatching -OMIM:620480 TRIML2 skos:exactMatch ncbigene:205860 semapv:UnspecifiedMatching -OMIM:620485 TTLL13 skos:exactMatch hgnc.symbol:32484 semapv:UnspecifiedMatching -OMIM:620485 TTLL13 skos:exactMatch hgnc.symbol:TTLL13 semapv:UnspecifiedMatching -OMIM:620485 TTLL13 skos:exactMatch ncbigene:440307 semapv:UnspecifiedMatching -OMIM:620487 CPLANE2 skos:exactMatch hgnc.symbol:28127 semapv:UnspecifiedMatching -OMIM:620487 CPLANE2 skos:exactMatch hgnc.symbol:CPLANE2 semapv:UnspecifiedMatching -OMIM:620487 CPLANE2 skos:exactMatch ncbigene:79363 semapv:UnspecifiedMatching -OMIM:620488 NFXL1 skos:exactMatch hgnc.symbol:18726 semapv:UnspecifiedMatching -OMIM:620488 NFXL1 skos:exactMatch hgnc.symbol:NFXL1 semapv:UnspecifiedMatching -OMIM:620488 NFXL1 skos:exactMatch ncbigene:152518 semapv:UnspecifiedMatching -OMIM:620491 MTURN skos:exactMatch hgnc.symbol:25457 semapv:UnspecifiedMatching -OMIM:620491 MTURN skos:exactMatch hgnc.symbol:MTURN semapv:UnspecifiedMatching -OMIM:620491 MTURN skos:exactMatch ncbigene:222166 semapv:UnspecifiedMatching -OMIM:620492 MED31 skos:exactMatch hgnc.symbol:24260 semapv:UnspecifiedMatching -OMIM:620492 MED31 skos:exactMatch hgnc.symbol:MED31 semapv:UnspecifiedMatching -OMIM:620492 MED31 skos:exactMatch ncbigene:51003 semapv:UnspecifiedMatching -OMIM:620493 SAMD7 skos:exactMatch hgnc.symbol:25394 semapv:UnspecifiedMatching -OMIM:620493 SAMD7 skos:exactMatch hgnc.symbol:SAMD7 semapv:UnspecifiedMatching -OMIM:620493 SAMD7 skos:exactMatch ncbigene:344658 semapv:UnspecifiedMatching -OMIM:620495 C12ORF40 skos:exactMatch hgnc.symbol:REDIC1 semapv:UnspecifiedMatching -OMIM:620495 C12ORF40 skos:exactMatch ncbigene:283461 semapv:UnspecifiedMatching -OMIM:620496 BBOF1 skos:exactMatch hgnc.symbol:19855 semapv:UnspecifiedMatching -OMIM:620496 BBOF1 skos:exactMatch hgnc.symbol:BBOF1 semapv:UnspecifiedMatching -OMIM:620496 BBOF1 skos:exactMatch ncbigene:80127 semapv:UnspecifiedMatching -OMIM:620497 LRRC49 skos:exactMatch hgnc.symbol:25965 semapv:UnspecifiedMatching -OMIM:620497 LRRC49 skos:exactMatch hgnc.symbol:LRRC49 semapv:UnspecifiedMatching -OMIM:620497 LRRC49 skos:exactMatch ncbigene:54839 semapv:UnspecifiedMatching -OMIM:620498 TCERG1L skos:exactMatch hgnc.symbol:23533 semapv:UnspecifiedMatching -OMIM:620498 TCERG1L skos:exactMatch hgnc.symbol:TCERG1L semapv:UnspecifiedMatching -OMIM:620498 TCERG1L skos:exactMatch ncbigene:256536 semapv:UnspecifiedMatching -OMIM:620503 FIGNL2 skos:exactMatch hgnc.symbol:13287 semapv:UnspecifiedMatching -OMIM:620503 FIGNL2 skos:exactMatch hgnc.symbol:FIGNL2 semapv:UnspecifiedMatching -OMIM:620503 FIGNL2 skos:exactMatch ncbigene:401720 semapv:UnspecifiedMatching -OMIM:620505 IFT22 skos:exactMatch hgnc.symbol:21895 semapv:UnspecifiedMatching -OMIM:620505 IFT22 skos:exactMatch hgnc.symbol:IFT22 semapv:UnspecifiedMatching -OMIM:620505 IFT22 skos:exactMatch ncbigene:64792 semapv:UnspecifiedMatching -OMIM:620506 IFT46 skos:exactMatch hgnc.symbol:26146 semapv:UnspecifiedMatching -OMIM:620506 IFT46 skos:exactMatch hgnc.symbol:IFT46 semapv:UnspecifiedMatching -OMIM:620506 IFT46 skos:exactMatch ncbigene:56912 semapv:UnspecifiedMatching -OMIM:620508 CNOT10 skos:exactMatch hgnc.symbol:23817 semapv:UnspecifiedMatching -OMIM:620508 CNOT10 skos:exactMatch hgnc.symbol:CNOT10 semapv:UnspecifiedMatching -OMIM:620508 CNOT10 skos:exactMatch ncbigene:25904 semapv:UnspecifiedMatching -OMIM:620509 CNOT11 skos:exactMatch hgnc.symbol:25217 semapv:UnspecifiedMatching -OMIM:620509 CNOT11 skos:exactMatch hgnc.symbol:CNOT11 semapv:UnspecifiedMatching -OMIM:620509 CNOT11 skos:exactMatch ncbigene:55571 semapv:UnspecifiedMatching -OMIM:620513 UNC119B skos:exactMatch hgnc.symbol:16488 semapv:UnspecifiedMatching -OMIM:620513 UNC119B skos:exactMatch hgnc.symbol:UNC119B semapv:UnspecifiedMatching -OMIM:620513 UNC119B skos:exactMatch ncbigene:84747 semapv:UnspecifiedMatching -OMIM:620516 SAMD3 skos:exactMatch hgnc.symbol:21574 semapv:UnspecifiedMatching -OMIM:620516 SAMD3 skos:exactMatch hgnc.symbol:SAMD3 semapv:UnspecifiedMatching -OMIM:620516 SAMD3 skos:exactMatch ncbigene:154075 semapv:UnspecifiedMatching -OMIM:620517 SAMD5 skos:exactMatch hgnc.symbol:21180 semapv:UnspecifiedMatching -OMIM:620517 SAMD5 skos:exactMatch hgnc.symbol:SAMD5 semapv:UnspecifiedMatching -OMIM:620517 SAMD5 skos:exactMatch ncbigene:389432 semapv:UnspecifiedMatching -OMIM:620518 KLHDC4 skos:exactMatch hgnc.symbol:25272 semapv:UnspecifiedMatching -OMIM:620518 KLHDC4 skos:exactMatch hgnc.symbol:KLHDC4 semapv:UnspecifiedMatching -OMIM:620518 KLHDC4 skos:exactMatch ncbigene:54758 semapv:UnspecifiedMatching -OMIM:620520 CALML4 skos:exactMatch hgnc.symbol:18445 semapv:UnspecifiedMatching -OMIM:620520 CALML4 skos:exactMatch hgnc.symbol:CALML4 semapv:UnspecifiedMatching -OMIM:620520 CALML4 skos:exactMatch ncbigene:91860 semapv:UnspecifiedMatching -OMIM:620521 KLHDC7B skos:exactMatch hgnc.symbol:25145 semapv:UnspecifiedMatching -OMIM:620521 KLHDC7B skos:exactMatch hgnc.symbol:KLHDC7B semapv:UnspecifiedMatching -OMIM:620521 KLHDC7B skos:exactMatch ncbigene:113730 semapv:UnspecifiedMatching -OMIM:620522 OCM2 skos:exactMatch hgnc.symbol:34396 semapv:UnspecifiedMatching -OMIM:620522 OCM2 skos:exactMatch hgnc.symbol:OCM2 semapv:UnspecifiedMatching -OMIM:620522 OCM2 skos:exactMatch ncbigene:4951 semapv:UnspecifiedMatching -OMIM:620523 RNF122 skos:exactMatch hgnc.symbol:21147 semapv:UnspecifiedMatching -OMIM:620523 RNF122 skos:exactMatch hgnc.symbol:RNF122 semapv:UnspecifiedMatching -OMIM:620523 RNF122 skos:exactMatch ncbigene:79845 semapv:UnspecifiedMatching -OMIM:620524 DCAF16 skos:exactMatch hgnc.symbol:25987 semapv:UnspecifiedMatching -OMIM:620524 DCAF16 skos:exactMatch hgnc.symbol:DCAF16 semapv:UnspecifiedMatching -OMIM:620524 DCAF16 skos:exactMatch ncbigene:54876 semapv:UnspecifiedMatching -OMIM:620525 LINC02228 skos:exactMatch hgnc.symbol:53097 semapv:UnspecifiedMatching -OMIM:620525 LINC02228 skos:exactMatch hgnc.symbol:LINC02228 semapv:UnspecifiedMatching -OMIM:620525 LINC02228 skos:exactMatch ncbigene:105374694 semapv:UnspecifiedMatching -OMIM:620526 SGTB skos:exactMatch hgnc.symbol:23567 semapv:UnspecifiedMatching -OMIM:620526 SGTB skos:exactMatch hgnc.symbol:SGTB semapv:UnspecifiedMatching -OMIM:620526 SGTB skos:exactMatch ncbigene:54557 semapv:UnspecifiedMatching -OMIM:620527 TRIM58 skos:exactMatch hgnc.symbol:24150 semapv:UnspecifiedMatching -OMIM:620527 TRIM58 skos:exactMatch hgnc.symbol:TRIM58 semapv:UnspecifiedMatching -OMIM:620527 TRIM58 skos:exactMatch ncbigene:25893 semapv:UnspecifiedMatching -OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:21070 semapv:UnspecifiedMatching -OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:RNF121 semapv:UnspecifiedMatching -OMIM:620529 RNF121 skos:exactMatch ncbigene:55298 semapv:UnspecifiedMatching -OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:19225 semapv:UnspecifiedMatching -OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:C4orf3 semapv:UnspecifiedMatching -OMIM:620530 C4ORF3 skos:exactMatch ncbigene:401152 semapv:UnspecifiedMatching -OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:40032 semapv:UnspecifiedMatching -OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:SMIM6 semapv:UnspecifiedMatching -OMIM:620531 SMIM6 skos:exactMatch ncbigene:100130933 semapv:UnspecifiedMatching -OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:19843 semapv:UnspecifiedMatching -OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:LINC00520 semapv:UnspecifiedMatching -OMIM:620533 LINC00520 skos:exactMatch ncbigene:645687 semapv:UnspecifiedMatching -OMIM:620539 ZSWIM4 skos:exactMatch hgnc.symbol:25704 semapv:UnspecifiedMatching -OMIM:620539 ZSWIM4 skos:exactMatch hgnc.symbol:ZSWIM4 semapv:UnspecifiedMatching -OMIM:620539 ZSWIM4 skos:exactMatch ncbigene:65249 semapv:UnspecifiedMatching -OMIM:620541 PANO1 skos:exactMatch hgnc.symbol:51237 semapv:UnspecifiedMatching -OMIM:620541 PANO1 skos:exactMatch hgnc.symbol:PANO1 semapv:UnspecifiedMatching -OMIM:620541 PANO1 skos:exactMatch ncbigene:101927423 semapv:UnspecifiedMatching -OMIM:620543 ZUP1 skos:exactMatch hgnc.symbol:21224 semapv:UnspecifiedMatching -OMIM:620543 ZUP1 skos:exactMatch hgnc.symbol:ZUP1 semapv:UnspecifiedMatching -OMIM:620543 ZUP1 skos:exactMatch ncbigene:221302 semapv:UnspecifiedMatching -OMIM:620544 PPP1R13BDT skos:exactMatch hgnc.symbol:27069 semapv:UnspecifiedMatching -OMIM:620544 PPP1R13BDT skos:exactMatch hgnc.symbol:PPP1R13B-DT semapv:UnspecifiedMatching -OMIM:620544 PPP1R13BDT skos:exactMatch ncbigene:145216 semapv:UnspecifiedMatching -OMIM:620549 FBXO48 skos:exactMatch hgnc.symbol:33857 semapv:UnspecifiedMatching -OMIM:620549 FBXO48 skos:exactMatch hgnc.symbol:FBXO48 semapv:UnspecifiedMatching -OMIM:620549 FBXO48 skos:exactMatch ncbigene:554251 semapv:UnspecifiedMatching -OMIM:620552 CUEDC1 skos:exactMatch hgnc.symbol:31350 semapv:UnspecifiedMatching -OMIM:620552 CUEDC1 skos:exactMatch hgnc.symbol:CUEDC1 semapv:UnspecifiedMatching -OMIM:620552 CUEDC1 skos:exactMatch ncbigene:404093 semapv:UnspecifiedMatching -OMIM:620553 CCDC93 skos:exactMatch hgnc.symbol:25611 semapv:UnspecifiedMatching -OMIM:620553 CCDC93 skos:exactMatch hgnc.symbol:CCDC93 semapv:UnspecifiedMatching -OMIM:620553 CCDC93 skos:exactMatch ncbigene:54520 semapv:UnspecifiedMatching -OMIM:620554 ZNF432 skos:exactMatch hgnc.symbol:20810 semapv:UnspecifiedMatching -OMIM:620554 ZNF432 skos:exactMatch hgnc.symbol:ZNF432 semapv:UnspecifiedMatching -OMIM:620554 ZNF432 skos:exactMatch ncbigene:9668 semapv:UnspecifiedMatching -OMIM:620555 SNHG20 skos:exactMatch hgnc.symbol:33099 semapv:UnspecifiedMatching -OMIM:620555 SNHG20 skos:exactMatch hgnc.symbol:SNHG20 semapv:UnspecifiedMatching -OMIM:620555 SNHG20 skos:exactMatch ncbigene:654434 semapv:UnspecifiedMatching -OMIM:620556 RNF133 skos:exactMatch hgnc.symbol:21154 semapv:UnspecifiedMatching -OMIM:620556 RNF133 skos:exactMatch hgnc.symbol:RNF133 semapv:UnspecifiedMatching -OMIM:620556 RNF133 skos:exactMatch ncbigene:168433 semapv:UnspecifiedMatching -OMIM:620557 IQUB skos:exactMatch hgnc.symbol:21995 semapv:UnspecifiedMatching -OMIM:620557 IQUB skos:exactMatch hgnc.symbol:IQUB semapv:UnspecifiedMatching -OMIM:620557 IQUB skos:exactMatch ncbigene:154865 semapv:UnspecifiedMatching -OMIM:620559 CCNYL1 skos:exactMatch hgnc.symbol:26868 semapv:UnspecifiedMatching -OMIM:620559 CCNYL1 skos:exactMatch hgnc.symbol:CCNYL1 semapv:UnspecifiedMatching -OMIM:620559 CCNYL1 skos:exactMatch ncbigene:151195 semapv:UnspecifiedMatching -OMIM:620560 CEBPA-DT skos:exactMatch hgnc.symbol:25710 semapv:UnspecifiedMatching -OMIM:620560 CEBPA-DT skos:exactMatch hgnc.symbol:CEBPA-DT semapv:UnspecifiedMatching -OMIM:620560 CEBPA-DT skos:exactMatch ncbigene:80054 semapv:UnspecifiedMatching -OMIM:620561 DENND6A skos:exactMatch hgnc.symbol:26635 semapv:UnspecifiedMatching -OMIM:620561 DENND6A skos:exactMatch hgnc.symbol:DENND6A semapv:UnspecifiedMatching -OMIM:620561 DENND6A skos:exactMatch ncbigene:201627 semapv:UnspecifiedMatching -OMIM:620562 DENND6B skos:exactMatch hgnc.symbol:32690 semapv:UnspecifiedMatching -OMIM:620562 DENND6B skos:exactMatch hgnc.symbol:DENND6B semapv:UnspecifiedMatching -OMIM:620562 DENND6B skos:exactMatch ncbigene:414918 semapv:UnspecifiedMatching -OMIM:620563 USP50 skos:exactMatch hgnc.symbol:20079 semapv:UnspecifiedMatching -OMIM:620563 USP50 skos:exactMatch hgnc.symbol:USP50 semapv:UnspecifiedMatching -OMIM:620563 USP50 skos:exactMatch ncbigene:373509 semapv:UnspecifiedMatching -OMIM:620564 AMN1 skos:exactMatch hgnc.symbol:27281 semapv:UnspecifiedMatching -OMIM:620564 AMN1 skos:exactMatch hgnc.symbol:AMN1 semapv:UnspecifiedMatching -OMIM:620564 AMN1 skos:exactMatch ncbigene:196394 semapv:UnspecifiedMatching -OMIM:620566 CLDN22 skos:exactMatch hgnc.symbol:2044 semapv:UnspecifiedMatching -OMIM:620566 CLDN22 skos:exactMatch hgnc.symbol:CLDN22 semapv:UnspecifiedMatching -OMIM:620566 CLDN22 skos:exactMatch ncbigene:53842 semapv:UnspecifiedMatching -OMIM:620567 ZNF507 skos:exactMatch hgnc.symbol:23783 semapv:UnspecifiedMatching -OMIM:620567 ZNF507 skos:exactMatch hgnc.symbol:ZNF507 semapv:UnspecifiedMatching -OMIM:620567 ZNF507 skos:exactMatch ncbigene:22847 semapv:UnspecifiedMatching -OMIM:620571 MIR512-1 skos:exactMatch hgnc.symbol:32090 semapv:UnspecifiedMatching -OMIM:620571 MIR512-1 skos:exactMatch hgnc.symbol:MIR512-1 semapv:UnspecifiedMatching -OMIM:620571 MIR512-1 skos:exactMatch ncbigene:574458 semapv:UnspecifiedMatching -OMIM:620572 MIR512-2 skos:exactMatch hgnc.symbol:32091 semapv:UnspecifiedMatching -OMIM:620572 MIR512-2 skos:exactMatch hgnc.symbol:MIR512-2 semapv:UnspecifiedMatching -OMIM:620572 MIR512-2 skos:exactMatch ncbigene:574459 semapv:UnspecifiedMatching -OMIM:620573 MIR520E skos:exactMatch hgnc.symbol:32093 semapv:UnspecifiedMatching -OMIM:620573 MIR520E skos:exactMatch hgnc.symbol:MIR520E semapv:UnspecifiedMatching -OMIM:620573 MIR520E skos:exactMatch ncbigene:574461 semapv:UnspecifiedMatching -OMIM:620574 MIR515-1 skos:exactMatch hgnc.symbol:32094 semapv:UnspecifiedMatching -OMIM:620574 MIR515-1 skos:exactMatch hgnc.symbol:MIR515-1 semapv:UnspecifiedMatching -OMIM:620574 MIR515-1 skos:exactMatch ncbigene:574462 semapv:UnspecifiedMatching -OMIM:620575 MIR519E skos:exactMatch hgnc.symbol:32095 semapv:UnspecifiedMatching -OMIM:620575 MIR519E skos:exactMatch hgnc.symbol:MIR519E semapv:UnspecifiedMatching -OMIM:620575 MIR519E skos:exactMatch ncbigene:574463 semapv:UnspecifiedMatching -OMIM:620577 FADS6 skos:exactMatch hgnc.symbol:30459 semapv:UnspecifiedMatching -OMIM:620577 FADS6 skos:exactMatch hgnc.symbol:FADS6 semapv:UnspecifiedMatching -OMIM:620577 FADS6 skos:exactMatch ncbigene:283985 semapv:UnspecifiedMatching -OMIM:620578 UQCC4 skos:exactMatch hgnc.symbol:UQCC4 semapv:UnspecifiedMatching -OMIM:620578 UQCC4 skos:exactMatch ncbigene:283951 semapv:UnspecifiedMatching -OMIM:620579 CCDC3 skos:exactMatch hgnc.symbol:23813 semapv:UnspecifiedMatching -OMIM:620579 CCDC3 skos:exactMatch hgnc.symbol:CCDC3 semapv:UnspecifiedMatching -OMIM:620579 CCDC3 skos:exactMatch ncbigene:83643 semapv:UnspecifiedMatching -OMIM:620580 DQX1 skos:exactMatch hgnc.symbol:20410 semapv:UnspecifiedMatching -OMIM:620580 DQX1 skos:exactMatch hgnc.symbol:DQX1 semapv:UnspecifiedMatching -OMIM:620580 DQX1 skos:exactMatch ncbigene:165545 semapv:UnspecifiedMatching -OMIM:620581 OXNAD1 skos:exactMatch hgnc.symbol:25128 semapv:UnspecifiedMatching -OMIM:620581 OXNAD1 skos:exactMatch hgnc.symbol:OXNAD1 semapv:UnspecifiedMatching -OMIM:620581 OXNAD1 skos:exactMatch ncbigene:92106 semapv:UnspecifiedMatching -OMIM:620582 C1ORF210 skos:exactMatch hgnc.symbol:28755 semapv:UnspecifiedMatching -OMIM:620582 C1ORF210 skos:exactMatch hgnc.symbol:C1orf210 semapv:UnspecifiedMatching -OMIM:620582 C1ORF210 skos:exactMatch ncbigene:149466 semapv:UnspecifiedMatching -OMIM:620584 MIR498 skos:exactMatch hgnc.symbol:32092 semapv:UnspecifiedMatching -OMIM:620584 MIR498 skos:exactMatch hgnc.symbol:MIR498 semapv:UnspecifiedMatching -OMIM:620584 MIR498 skos:exactMatch ncbigene:574460 semapv:UnspecifiedMatching -OMIM:620585 MIR520F skos:exactMatch hgnc.symbol:32096 semapv:UnspecifiedMatching -OMIM:620585 MIR520F skos:exactMatch hgnc.symbol:MIR520F semapv:UnspecifiedMatching -OMIM:620585 MIR520F skos:exactMatch ncbigene:574464 semapv:UnspecifiedMatching -OMIM:620586 MIR515-2 skos:exactMatch hgnc.symbol:32097 semapv:UnspecifiedMatching -OMIM:620586 MIR515-2 skos:exactMatch hgnc.symbol:MIR515-2 semapv:UnspecifiedMatching -OMIM:620586 MIR515-2 skos:exactMatch ncbigene:574465 semapv:UnspecifiedMatching -OMIM:620587 MIR519C skos:exactMatch hgnc.symbol:32098 semapv:UnspecifiedMatching -OMIM:620587 MIR519C skos:exactMatch hgnc.symbol:MIR519C semapv:UnspecifiedMatching -OMIM:620587 MIR519C skos:exactMatch ncbigene:574466 semapv:UnspecifiedMatching -OMIM:620588 MIR520A skos:exactMatch hgnc.symbol:32099 semapv:UnspecifiedMatching -OMIM:620588 MIR520A skos:exactMatch hgnc.symbol:MIR520A semapv:UnspecifiedMatching -OMIM:620588 MIR520A skos:exactMatch ncbigene:574467 semapv:UnspecifiedMatching -OMIM:620589 MIR526B skos:exactMatch hgnc.symbol:32100 semapv:UnspecifiedMatching -OMIM:620589 MIR526B skos:exactMatch hgnc.symbol:MIR526B semapv:UnspecifiedMatching -OMIM:620589 MIR526B skos:exactMatch ncbigene:574468 semapv:UnspecifiedMatching -OMIM:620590 RSAD1 skos:exactMatch hgnc.symbol:25634 semapv:UnspecifiedMatching -OMIM:620590 RSAD1 skos:exactMatch hgnc.symbol:RSAD1 semapv:UnspecifiedMatching -OMIM:620590 RSAD1 skos:exactMatch ncbigene:55316 semapv:UnspecifiedMatching -OMIM:620591 MIR519B skos:exactMatch hgnc.symbol:32101 semapv:UnspecifiedMatching -OMIM:620591 MIR519B skos:exactMatch hgnc.symbol:MIR519B semapv:UnspecifiedMatching -OMIM:620591 MIR519B skos:exactMatch ncbigene:574469 semapv:UnspecifiedMatching -OMIM:620592 MIR525 skos:exactMatch hgnc.symbol:32102 semapv:UnspecifiedMatching -OMIM:620592 MIR525 skos:exactMatch hgnc.symbol:MIR525 semapv:UnspecifiedMatching -OMIM:620592 MIR525 skos:exactMatch ncbigene:574470 semapv:UnspecifiedMatching -OMIM:620593 MIR523 skos:exactMatch hgnc.symbol:32103 semapv:UnspecifiedMatching -OMIM:620593 MIR523 skos:exactMatch hgnc.symbol:MIR523 semapv:UnspecifiedMatching -OMIM:620593 MIR523 skos:exactMatch ncbigene:574471 semapv:UnspecifiedMatching -OMIM:620594 MIR518F skos:exactMatch hgnc.symbol:32104 semapv:UnspecifiedMatching -OMIM:620594 MIR518F skos:exactMatch hgnc.symbol:MIR518F semapv:UnspecifiedMatching -OMIM:620594 MIR518F skos:exactMatch ncbigene:574472 semapv:UnspecifiedMatching -OMIM:620595 MIR520B skos:exactMatch hgnc.symbol:32105 semapv:UnspecifiedMatching -OMIM:620595 MIR520B skos:exactMatch hgnc.symbol:MIR520B semapv:UnspecifiedMatching -OMIM:620595 MIR520B skos:exactMatch ncbigene:574473 semapv:UnspecifiedMatching -OMIM:620596 MIR518B skos:exactMatch hgnc.symbol:32106 semapv:UnspecifiedMatching -OMIM:620596 MIR518B skos:exactMatch hgnc.symbol:MIR518B semapv:UnspecifiedMatching -OMIM:620596 MIR518B skos:exactMatch ncbigene:574474 semapv:UnspecifiedMatching -OMIM:620597 MIR526A1 skos:exactMatch hgnc.symbol:32107 semapv:UnspecifiedMatching -OMIM:620597 MIR526A1 skos:exactMatch hgnc.symbol:MIR526A1 semapv:UnspecifiedMatching -OMIM:620597 MIR526A1 skos:exactMatch ncbigene:574475 semapv:UnspecifiedMatching -OMIM:620598 MIR518C skos:exactMatch hgnc.symbol:32109 semapv:UnspecifiedMatching -OMIM:620598 MIR518C skos:exactMatch hgnc.symbol:MIR518C semapv:UnspecifiedMatching -OMIM:620598 MIR518C skos:exactMatch ncbigene:574477 semapv:UnspecifiedMatching -OMIM:620599 MIR524 skos:exactMatch hgnc.symbol:32110 semapv:UnspecifiedMatching -OMIM:620599 MIR524 skos:exactMatch hgnc.symbol:MIR524 semapv:UnspecifiedMatching -OMIM:620599 MIR524 skos:exactMatch ncbigene:574478 semapv:UnspecifiedMatching -OMIM:620600 MIR517A skos:exactMatch hgnc.symbol:32111 semapv:UnspecifiedMatching -OMIM:620600 MIR517A skos:exactMatch hgnc.symbol:MIR517A semapv:UnspecifiedMatching -OMIM:620600 MIR517A skos:exactMatch ncbigene:574479 semapv:UnspecifiedMatching -OMIM:620604 PTGR3 skos:exactMatch hgnc.symbol:28697 semapv:UnspecifiedMatching -OMIM:620604 PTGR3 skos:exactMatch hgnc.symbol:PTGR3 semapv:UnspecifiedMatching -OMIM:620604 PTGR3 skos:exactMatch ncbigene:284273 semapv:UnspecifiedMatching -OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:33480 semapv:UnspecifiedMatching -OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:CYP27C1 semapv:UnspecifiedMatching -OMIM:620605 CYP27C1 skos:exactMatch ncbigene:339761 semapv:UnspecifiedMatching -OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:30247 semapv:UnspecifiedMatching -OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:TEX264 semapv:UnspecifiedMatching -OMIM:620608 TEX264 skos:exactMatch ncbigene:51368 semapv:UnspecifiedMatching -OMIM:620611 MIR521-2 skos:exactMatch hgnc.symbol:32113 semapv:UnspecifiedMatching -OMIM:620611 MIR521-2 skos:exactMatch hgnc.symbol:MIR521-2 semapv:UnspecifiedMatching -OMIM:620611 MIR521-2 skos:exactMatch ncbigene:574481 semapv:UnspecifiedMatching -OMIM:620612 MIR520D skos:exactMatch hgnc.symbol:32114 semapv:UnspecifiedMatching -OMIM:620612 MIR520D skos:exactMatch hgnc.symbol:MIR520D semapv:UnspecifiedMatching -OMIM:620612 MIR520D skos:exactMatch ncbigene:574482 semapv:UnspecifiedMatching -OMIM:620613 MIR517B skos:exactMatch hgnc.symbol:32115 semapv:UnspecifiedMatching -OMIM:620613 MIR517B skos:exactMatch hgnc.symbol:MIR517B semapv:UnspecifiedMatching -OMIM:620613 MIR517B skos:exactMatch ncbigene:574483 semapv:UnspecifiedMatching -OMIM:620614 MIR516B2 skos:exactMatch hgnc.symbol:32117 semapv:UnspecifiedMatching -OMIM:620614 MIR516B2 skos:exactMatch hgnc.symbol:MIR516B2 semapv:UnspecifiedMatching -OMIM:620614 MIR516B2 skos:exactMatch ncbigene:574485 semapv:UnspecifiedMatching -OMIM:620615 MIR526A2 skos:exactMatch hgnc.symbol:32118 semapv:UnspecifiedMatching -OMIM:620615 MIR526A2 skos:exactMatch hgnc.symbol:MIR526A2 semapv:UnspecifiedMatching -OMIM:620615 MIR526A2 skos:exactMatch ncbigene:574486 semapv:UnspecifiedMatching -OMIM:620616 MIR518E skos:exactMatch hgnc.symbol:32119 semapv:UnspecifiedMatching -OMIM:620616 MIR518E skos:exactMatch hgnc.symbol:MIR518E semapv:UnspecifiedMatching -OMIM:620616 MIR518E skos:exactMatch ncbigene:574487 semapv:UnspecifiedMatching -OMIM:620617 MIR518A1 skos:exactMatch hgnc.symbol:32120 semapv:UnspecifiedMatching -OMIM:620617 MIR518A1 skos:exactMatch hgnc.symbol:MIR518A1 semapv:UnspecifiedMatching -OMIM:620617 MIR518A1 skos:exactMatch ncbigene:574488 semapv:UnspecifiedMatching -OMIM:620618 MIR518D skos:exactMatch hgnc.symbol:32121 semapv:UnspecifiedMatching -OMIM:620618 MIR518D skos:exactMatch hgnc.symbol:MIR518D semapv:UnspecifiedMatching -OMIM:620618 MIR518D skos:exactMatch ncbigene:574489 semapv:UnspecifiedMatching -OMIM:620619 MIR516B1 skos:exactMatch hgnc.symbol:32122 semapv:UnspecifiedMatching -OMIM:620619 MIR516B1 skos:exactMatch hgnc.symbol:MIR516B1 semapv:UnspecifiedMatching -OMIM:620619 MIR516B1 skos:exactMatch ncbigene:574490 semapv:UnspecifiedMatching -OMIM:620620 MIR518A2 skos:exactMatch hgnc.symbol:32123 semapv:UnspecifiedMatching -OMIM:620620 MIR518A2 skos:exactMatch hgnc.symbol:MIR518A2 semapv:UnspecifiedMatching -OMIM:620620 MIR518A2 skos:exactMatch ncbigene:574491 semapv:UnspecifiedMatching -OMIM:620621 MIR517C skos:exactMatch hgnc.symbol:32124 semapv:UnspecifiedMatching -OMIM:620621 MIR517C skos:exactMatch hgnc.symbol:MIR517C semapv:UnspecifiedMatching -OMIM:620621 MIR517C skos:exactMatch ncbigene:574492 semapv:UnspecifiedMatching -OMIM:620622 MIR521-1 skos:exactMatch hgnc.symbol:32126 semapv:UnspecifiedMatching -OMIM:620622 MIR521-1 skos:exactMatch hgnc.symbol:MIR521-1 semapv:UnspecifiedMatching -OMIM:620622 MIR521-1 skos:exactMatch ncbigene:574494 semapv:UnspecifiedMatching -OMIM:620623 MIR522 skos:exactMatch hgnc.symbol:32127 semapv:UnspecifiedMatching -OMIM:620623 MIR522 skos:exactMatch hgnc.symbol:MIR522 semapv:UnspecifiedMatching -OMIM:620623 MIR522 skos:exactMatch ncbigene:574495 semapv:UnspecifiedMatching -OMIM:620624 MIR519A1 skos:exactMatch hgnc.symbol:32128 semapv:UnspecifiedMatching -OMIM:620624 MIR519A1 skos:exactMatch hgnc.symbol:MIR519A1 semapv:UnspecifiedMatching -OMIM:620624 MIR519A1 skos:exactMatch ncbigene:574496 semapv:UnspecifiedMatching -OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:32129 semapv:UnspecifiedMatching -OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:MIR527 semapv:UnspecifiedMatching -OMIM:620625 MIR527 skos:exactMatch ncbigene:574497 semapv:UnspecifiedMatching -OMIM:620626 MIR516A1 skos:exactMatch hgnc.symbol:32130 semapv:UnspecifiedMatching -OMIM:620626 MIR516A1 skos:exactMatch hgnc.symbol:MIR516A1 semapv:UnspecifiedMatching -OMIM:620626 MIR516A1 skos:exactMatch ncbigene:574498 semapv:UnspecifiedMatching -OMIM:620627 MIR516A2 skos:exactMatch hgnc.symbol:32131 semapv:UnspecifiedMatching -OMIM:620627 MIR516A2 skos:exactMatch hgnc.symbol:MIR516A2 semapv:UnspecifiedMatching -OMIM:620627 MIR516A2 skos:exactMatch ncbigene:574499 semapv:UnspecifiedMatching -OMIM:620628 MIR519A2 skos:exactMatch hgnc.symbol:32132 semapv:UnspecifiedMatching -OMIM:620628 MIR519A2 skos:exactMatch hgnc.symbol:MIR519A2 semapv:UnspecifiedMatching -OMIM:620628 MIR519A2 skos:exactMatch ncbigene:574500 semapv:UnspecifiedMatching -OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:29577 semapv:UnspecifiedMatching -OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:TMEM170A semapv:UnspecifiedMatching -OMIM:620630 TMEM170A skos:exactMatch ncbigene:124491 semapv:UnspecifiedMatching -OMIM:620631 EMC7 skos:exactMatch hgnc.symbol:24301 semapv:UnspecifiedMatching -OMIM:620631 EMC7 skos:exactMatch hgnc.symbol:EMC7 semapv:UnspecifiedMatching -OMIM:620631 EMC7 skos:exactMatch ncbigene:56851 semapv:UnspecifiedMatching -OMIM:620633 GOLT1A skos:exactMatch hgnc.symbol:24766 semapv:UnspecifiedMatching -OMIM:620633 GOLT1A skos:exactMatch hgnc.symbol:GOLT1A semapv:UnspecifiedMatching -OMIM:620633 GOLT1A skos:exactMatch ncbigene:127845 semapv:UnspecifiedMatching -OMIM:620634 IRGC skos:exactMatch hgnc.symbol:28835 semapv:UnspecifiedMatching -OMIM:620634 IRGC skos:exactMatch hgnc.symbol:IRGC semapv:UnspecifiedMatching -OMIM:620634 IRGC skos:exactMatch ncbigene:56269 semapv:UnspecifiedMatching -OMIM:620637 CPED1 skos:exactMatch hgnc.symbol:26159 semapv:UnspecifiedMatching -OMIM:620637 CPED1 skos:exactMatch hgnc.symbol:CPED1 semapv:UnspecifiedMatching -OMIM:620637 CPED1 skos:exactMatch ncbigene:79974 semapv:UnspecifiedMatching -OMIM:620638 KCTD4 skos:exactMatch hgnc.symbol:23227 semapv:UnspecifiedMatching -OMIM:620638 KCTD4 skos:exactMatch hgnc.symbol:KCTD4 semapv:UnspecifiedMatching -OMIM:620638 KCTD4 skos:exactMatch ncbigene:386618 semapv:UnspecifiedMatching -OMIM:620640 RNF145 skos:exactMatch hgnc.symbol:20853 semapv:UnspecifiedMatching -OMIM:620640 RNF145 skos:exactMatch hgnc.symbol:RNF145 semapv:UnspecifiedMatching -OMIM:620640 RNF145 skos:exactMatch ncbigene:153830 semapv:UnspecifiedMatching -OMIM:620648 BTNL9 skos:exactMatch hgnc.symbol:24176 semapv:UnspecifiedMatching -OMIM:620648 BTNL9 skos:exactMatch hgnc.symbol:BTNL9 semapv:UnspecifiedMatching -OMIM:620648 BTNL9 skos:exactMatch ncbigene:153579 semapv:UnspecifiedMatching -OMIM:620649 PLA2G4E skos:exactMatch hgnc.symbol:24791 semapv:UnspecifiedMatching -OMIM:620649 PLA2G4E skos:exactMatch hgnc.symbol:PLA2G4E semapv:UnspecifiedMatching -OMIM:620649 PLA2G4E skos:exactMatch ncbigene:123745 semapv:UnspecifiedMatching -OMIM:620650 GLOD4 skos:exactMatch hgnc.symbol:14111 semapv:UnspecifiedMatching -OMIM:620650 GLOD4 skos:exactMatch hgnc.symbol:GLOD4 semapv:UnspecifiedMatching -OMIM:620650 GLOD4 skos:exactMatch ncbigene:51031 semapv:UnspecifiedMatching -OMIM:620652 SH3BP5L skos:exactMatch hgnc.symbol:29360 semapv:UnspecifiedMatching -OMIM:620652 SH3BP5L skos:exactMatch hgnc.symbol:SH3BP5L semapv:UnspecifiedMatching -OMIM:620652 SH3BP5L skos:exactMatch ncbigene:80851 semapv:UnspecifiedMatching -OMIM:620656 PSD2 skos:exactMatch hgnc.symbol:19092 semapv:UnspecifiedMatching -OMIM:620656 PSD2 skos:exactMatch hgnc.symbol:PSD2 semapv:UnspecifiedMatching -OMIM:620656 PSD2 skos:exactMatch ncbigene:84249 semapv:UnspecifiedMatching -OMIM:620660 CCZ1 skos:exactMatch hgnc.symbol:21691 semapv:UnspecifiedMatching -OMIM:620660 CCZ1 skos:exactMatch hgnc.symbol:CCZ1 semapv:UnspecifiedMatching -OMIM:620660 CCZ1 skos:exactMatch ncbigene:51622 semapv:UnspecifiedMatching -OMIM:620661 C10ORF88 skos:exactMatch hgnc.symbol:25822 semapv:UnspecifiedMatching -OMIM:620661 C10ORF88 skos:exactMatch hgnc.symbol:C10orf88 semapv:UnspecifiedMatching -OMIM:620661 C10ORF88 skos:exactMatch ncbigene:80007 semapv:UnspecifiedMatching -OMIM:620664 ARHGEF37 skos:exactMatch hgnc.symbol:34430 semapv:UnspecifiedMatching -OMIM:620664 ARHGEF37 skos:exactMatch hgnc.symbol:ARHGEF37 semapv:UnspecifiedMatching -OMIM:620664 ARHGEF37 skos:exactMatch ncbigene:389337 semapv:UnspecifiedMatching -OMIM:620665 PLEKHG4B skos:exactMatch hgnc.symbol:29399 semapv:UnspecifiedMatching -OMIM:620665 PLEKHG4B skos:exactMatch hgnc.symbol:PLEKHG4B semapv:UnspecifiedMatching -OMIM:620665 PLEKHG4B skos:exactMatch ncbigene:153478 semapv:UnspecifiedMatching -OMIM:620667 CEP128 skos:exactMatch hgnc.symbol:20359 semapv:UnspecifiedMatching -OMIM:620667 CEP128 skos:exactMatch hgnc.symbol:CEP128 semapv:UnspecifiedMatching -OMIM:620667 CEP128 skos:exactMatch ncbigene:145508 semapv:UnspecifiedMatching -OMIM:620671 POU2AF2 skos:exactMatch hgnc.symbol:30527 semapv:UnspecifiedMatching -OMIM:620671 POU2AF2 skos:exactMatch hgnc.symbol:POU2AF2 semapv:UnspecifiedMatching -OMIM:620671 POU2AF2 skos:exactMatch ncbigene:341032 semapv:UnspecifiedMatching -OMIM:620672 LRRC24 skos:exactMatch hgnc.symbol:28947 semapv:UnspecifiedMatching -OMIM:620672 LRRC24 skos:exactMatch hgnc.symbol:LRRC24 semapv:UnspecifiedMatching -OMIM:620672 LRRC24 skos:exactMatch ncbigene:441381 semapv:UnspecifiedMatching -OMIM:620673 MAP1LC3B2 skos:exactMatch hgnc.symbol:34390 semapv:UnspecifiedMatching -OMIM:620673 MAP1LC3B2 skos:exactMatch hgnc.symbol:MAP1LC3B2 semapv:UnspecifiedMatching -OMIM:620673 MAP1LC3B2 skos:exactMatch ncbigene:643246 semapv:UnspecifiedMatching -OMIM:620676 CCDC61 skos:exactMatch hgnc.symbol:33629 semapv:UnspecifiedMatching -OMIM:620676 CCDC61 skos:exactMatch hgnc.symbol:CCDC61 semapv:UnspecifiedMatching -OMIM:620676 CCDC61 skos:exactMatch ncbigene:729440 semapv:UnspecifiedMatching -OMIM:620677 TMEM192 skos:exactMatch hgnc.symbol:26775 semapv:UnspecifiedMatching -OMIM:620677 TMEM192 skos:exactMatch hgnc.symbol:TMEM192 semapv:UnspecifiedMatching -OMIM:620677 TMEM192 skos:exactMatch ncbigene:201931 semapv:UnspecifiedMatching -OMIM:620678 RINL skos:exactMatch hgnc.symbol:24795 semapv:UnspecifiedMatching -OMIM:620678 RINL skos:exactMatch hgnc.symbol:RINL semapv:UnspecifiedMatching -OMIM:620678 RINL skos:exactMatch ncbigene:126432 semapv:UnspecifiedMatching -OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:30232 semapv:UnspecifiedMatching -OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:SZRD1 semapv:UnspecifiedMatching -OMIM:620682 SZRD1 skos:exactMatch ncbigene:26099 semapv:UnspecifiedMatching -OMIM:620684 HGH1 skos:exactMatch hgnc.symbol:24161 semapv:UnspecifiedMatching -OMIM:620684 HGH1 skos:exactMatch hgnc.symbol:HGH1 semapv:UnspecifiedMatching -OMIM:620684 HGH1 skos:exactMatch ncbigene:51236 semapv:UnspecifiedMatching -OMIM:620685 C19ORF53 skos:exactMatch hgnc.symbol:24991 semapv:UnspecifiedMatching -OMIM:620685 C19ORF53 skos:exactMatch hgnc.symbol:C19orf53 semapv:UnspecifiedMatching -OMIM:620685 C19ORF53 skos:exactMatch ncbigene:28974 semapv:UnspecifiedMatching -OMIM:620689 LSM14B skos:exactMatch hgnc.symbol:15887 semapv:UnspecifiedMatching -OMIM:620689 LSM14B skos:exactMatch hgnc.symbol:LSM14B semapv:UnspecifiedMatching -OMIM:620689 LSM14B skos:exactMatch ncbigene:149986 semapv:UnspecifiedMatching +subject_id subject_label predicate_id object_id object_label mapping_justification +MONDO:0000005 skos:exactMatch omim.ps:203655 Alopecia, isolated semapv:UnspecifiedMatching +MONDO:0000009 skos:exactMatch omim.ps:231200 Bleeding disorder, platelet-type semapv:UnspecifiedMatching +MONDO:0000023 skos:exactMatch omim.ps:615438 Infantile liver failure syndrome semapv:UnspecifiedMatching +MONDO:0000030 skos:exactMatch omim.ps:600513 Epilepsy, nocturnal frontal lobe semapv:UnspecifiedMatching +MONDO:0000032 skos:exactMatch omim.ps:121210 Seizures, familial febrile semapv:UnspecifiedMatching +MONDO:0000044 skos:exactMatch omim.ps:193100 Hypophosphatemic rickets semapv:UnspecifiedMatching +MONDO:0000045 skos:exactMatch omim.ps:275200 Hypothyroidism, congenital, nongoitrous semapv:UnspecifiedMatching +MONDO:0000049 skos:exactMatch omim.ps:610799 semapv:UnspecifiedMatching +MONDO:0000050 skos:exactMatch omim.ps:262400 Isolated growth hormone deficiency semapv:UnspecifiedMatching +MONDO:0000062 skos:exactMatch omim.ps:251600 Microphthalmia, isolated semapv:UnspecifiedMatching +MONDO:0000065 skos:exactMatch omim.ps:603933 Microvascular complications of diabetes semapv:UnspecifiedMatching +MONDO:0000079 skos:exactMatch omim.ps:612286 Nephrolithiasis/osteoporosis, hypophosphatemic semapv:UnspecifiedMatching +MONDO:0000090 skos:exactMatch omim.ps:157640 Progressive external ophthalmoplegia with mtDNA deletions semapv:UnspecifiedMatching +MONDO:0000104 skos:exactMatch omim.ps:206100 Anemia, hypochromic microcytic, with iron overload semapv:UnspecifiedMatching +MONDO:0000107 skos:exactMatch omim.ps:602483 Auriculocondylar syndrome semapv:UnspecifiedMatching +MONDO:0000118 skos:exactMatch omim.ps:179850 Reticulate pigment disorders semapv:UnspecifiedMatching +MONDO:0000127 skos:exactMatch omim.ps:231050 Geleophysic dysplasia semapv:UnspecifiedMatching +MONDO:0000128 skos:exactMatch omim.ps:256850 Giant axonal neuropathy semapv:UnspecifiedMatching +MONDO:0000133 skos:exactMatch omim.ps:242860 Immunodeficiency-centromeric instability-facial anomalies semapv:UnspecifiedMatching +MONDO:0000137 skos:exactMatch omim.ps:604004 Leukoencephalopathy, megalencephalic semapv:UnspecifiedMatching +MONDO:0000141 skos:exactMatch omim.ps:257300 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching +MONDO:0000148 skos:exactMatch omim.ps:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related semapv:UnspecifiedMatching +MONDO:0000152 skos:exactMatch omim.ps:249270 Thiamine-responsive dysfunction syndrome semapv:UnspecifiedMatching +MONDO:0000158 skos:exactMatch omim.ps:142700 Developmental dysplasia of the hip semapv:UnspecifiedMatching +MONDO:0000159 skos:exactMatch omim.ps:614675 Bone marrow failure syndrome semapv:UnspecifiedMatching +MONDO:0000160 skos:exactMatch omim.ps:601068 Epilepsy, familial adult myoclonic semapv:UnspecifiedMatching +MONDO:0000166 skos:exactMatch omim.ps:610551 Encephalopathy/encephalitis, acute, infection-induced semapv:UnspecifiedMatching +MONDO:0000169 skos:exactMatch omim.ps:156850 semapv:UnspecifiedMatching +MONDO:0000170 skos:exactMatch omim.ps:300345 Microphthalmia, isolated, with coloboma semapv:UnspecifiedMatching +MONDO:0000171 skos:exactMatch omim.ps:236670 Muscular dystrophy-dystroglycanopathy, type A semapv:UnspecifiedMatching +MONDO:0000172 skos:exactMatch omim.ps:613155 Muscular dystrophy-dystroglycanopathy, type B semapv:UnspecifiedMatching +MONDO:0000173 skos:exactMatch omim.ps:609308 Muscular dystrophy-dystroglycanopathy, type C semapv:UnspecifiedMatching +MONDO:0000179 skos:exactMatch omim.ps:256520 Neu-Laxova syndrome semapv:UnspecifiedMatching +MONDO:0000181 skos:exactMatch omim.ps:251270 Microcephaly and chorioretinopathy semapv:UnspecifiedMatching +MONDO:0000182 skos:exactMatch omim.ps:610542 Myasthenic syndrome, congenital, with tubular aggregates semapv:UnspecifiedMatching +MONDO:0000188 skos:exactMatch omim.ps:606777 Glut1 deficiency syndrome semapv:UnspecifiedMatching +MONDO:0000192 skos:exactMatch omim.ps:615895 Polyglucosan body myopathy semapv:UnspecifiedMatching +MONDO:0000193 skos:exactMatch omim.ps:604931 Cortisone reductase deficiency semapv:UnspecifiedMatching +MONDO:0000200 skos:exactMatch omim.ps:135500 Zimmermann-Laband syndrome semapv:UnspecifiedMatching +MONDO:0000204 skos:exactMatch omim.ps:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching +MONDO:0000208 skos:exactMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:UnspecifiedMatching +MONDO:0000209 skos:exactMatch omim.ps:616866 Spinal muscular atrophy with congenital bone fractures semapv:UnspecifiedMatching +MONDO:0000210 skos:exactMatch omim.ps:610460 Thiopurines, poor metabolism of semapv:UnspecifiedMatching +MONDO:0000211 skos:exactMatch omim.ps:609161 Striatal degeneration, autosomal dominant semapv:UnspecifiedMatching +MONDO:0000212 skos:exactMatch omim.ps:143880 Hypercalcemia, infantile semapv:UnspecifiedMatching +MONDO:0000213 skos:exactMatch omim.ps:615952 Autoimmune disease, multisystem, infantile-onset semapv:UnspecifiedMatching +MONDO:0000214 skos:exactMatch omim.ps:613280 Hypermanganesemia with dystonia semapv:UnspecifiedMatching +MONDO:0000218 skos:exactMatch omim.ps:616814 semapv:UnspecifiedMatching +MONDO:0000334 skos:exactMatch omim.ps:138800 Goiter, multinodular semapv:UnspecifiedMatching +MONDO:0000355 skos:exactMatch omim.ps:254090 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching +MONDO:0000358 skos:exactMatch omim.ps:119530 Orofacial cleft semapv:UnspecifiedMatching +MONDO:0000359 skos:exactMatch omim.ps:277300 Spondylocostal dysostosis semapv:UnspecifiedMatching +MONDO:0000389 skos:exactMatch omim.ps:108720 Atelosteogenesis semapv:UnspecifiedMatching +MONDO:0000390 skos:exactMatch omim.ps:153840 Macular dystrophy, vitelliform semapv:UnspecifiedMatching +MONDO:0000447 skos:exactMatch omim.ps:174050 Polycystic liver disease semapv:UnspecifiedMatching +MONDO:0000448 skos:exactMatch omim.ps:168000 Pheochromocytoma/paraganglioma syndrome semapv:UnspecifiedMatching +MONDO:0000453 skos:exactMatch omim.ps:609620 Short QT syndrome semapv:UnspecifiedMatching +MONDO:0000456 skos:exactMatch omim.ps:300352 Cerebral creatine deficiency syndrome semapv:UnspecifiedMatching +MONDO:0000463 skos:exactMatch omim.ps:236730 Urofacial syndrome semapv:UnspecifiedMatching +MONDO:0000507 skos:exactMatch omim.ps:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0000608 skos:exactMatch omim.ps:162000 Tubulointerstitial kidney disease semapv:UnspecifiedMatching +MONDO:0000700 skos:exactMatch omim.ps:141500 Migraine, familial hemiplegic semapv:UnspecifiedMatching +MONDO:0000723 skos:exactMatch omim.ps:184450 Stuttering, familial persistent semapv:UnspecifiedMatching +MONDO:0000724 skos:exactMatch omim.ps:606711 Specific language impairment semapv:UnspecifiedMatching +MONDO:0000732 skos:exactMatch omim.ps:609060 Combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching +MONDO:0000733 skos:exactMatch omim.ps:121400 Cornea plana semapv:UnspecifiedMatching +MONDO:0000736 skos:exactMatch omim.ps:127500 Dyschromatosis universalis hereditaria semapv:UnspecifiedMatching +MONDO:0000816 skos:exactMatch omim.ps:605552 Abdominal obesity-metabolic syndrome semapv:UnspecifiedMatching +MONDO:0000819 skos:exactMatch omim.ps:206500 Anencephaly semapv:UnspecifiedMatching +MONDO:0000824 skos:exactMatch omim.ps:214700 Diarrhea, congenital semapv:UnspecifiedMatching +MONDO:0000863 skos:exactMatch omim.ps:600462 Myopathy, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching +MONDO:0000902 skos:exactMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0000904 skos:exactMatch omim.ps:614039 Cortical dysplasia, complex, with other brain malformations semapv:UnspecifiedMatching +MONDO:0000908 skos:exactMatch OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 semapv:UnspecifiedMatching +MONDO:0000909 skos:exactMatch OMIM:613090 bartter syndrome, iia 4b, neonatal, with sensorineural deafness semapv:UnspecifiedMatching +MONDO:0000910 skos:exactMatch OMIM:312612 retinitis pigmentosa 6 semapv:UnspecifiedMatching +MONDO:0000911 skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching +MONDO:0000912 skos:exactMatch OMIM:600792 deafness, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0000913 skos:exactMatch OMIM:616649 spherocytosis, iia 2 semapv:UnspecifiedMatching +MONDO:0000914 skos:exactMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:UnspecifiedMatching +MONDO:0001029 skos:exactMatch omim.ps:118100 Klippel-Feil syndrome semapv:UnspecifiedMatching +MONDO:0001046 skos:exactMatch OMIM:207500 anus, imperforate semapv:UnspecifiedMatching +MONDO:0001046 skos:exactMatch OMIM:301800 anus, imperforate semapv:UnspecifiedMatching +MONDO:0001056 skos:exactMatch OMIM:613659 gastric cancer semapv:UnspecifiedMatching +MONDO:0001115 skos:exactMatch omim.ps:133100 Erythrocytosis, familial semapv:UnspecifiedMatching +MONDO:0001187 skos:exactMatch OMIM:109800 bladder cancer semapv:UnspecifiedMatching +MONDO:0001347 skos:exactMatch omim.ps:158900 Facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching +MONDO:0001384 skos:exactMatch omim.ps:160700 Myopia semapv:UnspecifiedMatching +MONDO:0001676 skos:exactMatch omim.ps:177000 Protoporphyria, erythropoietic semapv:UnspecifiedMatching +MONDO:0001734 skos:exactMatch omim.ps:191100 Tuberous sclerosis semapv:UnspecifiedMatching +MONDO:0002009 skos:exactMatch OMIM:608516 major depressive disorder semapv:UnspecifiedMatching +MONDO:0002010 skos:exactMatch omim.ps:305450 FG syndrome semapv:UnspecifiedMatching +MONDO:0002070 skos:exactMatch omim.ps:614429 Ventricular septal defect semapv:UnspecifiedMatching +MONDO:0002350 skos:exactMatch omim.ps:256300 Nephrotic syndrome semapv:UnspecifiedMatching +MONDO:0002408 skos:exactMatch omim.ps:237450 Hyperbilirubinemia semapv:UnspecifiedMatching +MONDO:0002412 skos:exactMatch omim.ps:232200 Glycogen storage disease semapv:UnspecifiedMatching +MONDO:0002422 skos:exactMatch OMIM:102660 adamantinoma of long bones semapv:UnspecifiedMatching +MONDO:0002441 skos:exactMatch omim.ps:220400 Jervell and Lange-Nielsen syndrome semapv:UnspecifiedMatching +MONDO:0002457 skos:exactMatch omim.ps:154500 Treacher Collins syndrome semapv:UnspecifiedMatching +MONDO:0002474 skos:exactMatch omim.ps:259900 Hyperoxaluria, primary semapv:UnspecifiedMatching +MONDO:0002629 skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:UnspecifiedMatching +MONDO:0002697 skos:exactMatch OMIM:424500 gonadoblastoma semapv:UnspecifiedMatching +MONDO:0002974 skos:exactMatch OMIM:603956 cervical cancer semapv:UnspecifiedMatching +MONDO:0003037 skos:exactMatch omim.ps:605389 Hypotrichosis semapv:UnspecifiedMatching +MONDO:0003122 skos:exactMatch omim.ps:271930 Striatonigral degeneration semapv:UnspecifiedMatching +MONDO:0003233 skos:exactMatch omim.ps:190300 Tremor, hereditary essential semapv:UnspecifiedMatching +MONDO:0003321 skos:exactMatch omim.ps:194070 Wilms tumor semapv:UnspecifiedMatching +MONDO:0003789 skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:UnspecifiedMatching +MONDO:0003947 skos:exactMatch omim.ps:308230 Immunodeficiency with hyper-IgM semapv:UnspecifiedMatching +MONDO:0004573 skos:exactMatch OMIM:615026 riboflavin deficiency semapv:UnspecifiedMatching +MONDO:0004741 skos:exactMatch omim.ps:276700 Tyrosinemia semapv:UnspecifiedMatching +MONDO:0004743 skos:exactMatch OMIM:603174 hyperhomocysteinemia semapv:UnspecifiedMatching +MONDO:0004822 skos:exactMatch omim.ps:211400 Bronchiectasis semapv:UnspecifiedMatching +MONDO:0004914 skos:exactMatch OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm semapv:UnspecifiedMatching +MONDO:0004933 skos:exactMatch omim.ps:241550 Hypoplastic left heart syndrome semapv:UnspecifiedMatching +MONDO:0004948 skos:exactMatch OMIM:151400 leukemia, chronic lymphocytic semapv:UnspecifiedMatching +MONDO:0004951 skos:exactMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:UnspecifiedMatching +MONDO:0004980 skos:exactMatch omim.ps:603165 Dermatitis, atopic semapv:UnspecifiedMatching +MONDO:0004983 skos:exactMatch omim.ps:258150 Spermatogenic failure semapv:UnspecifiedMatching +MONDO:0005002 skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:UnspecifiedMatching +MONDO:0005081 skos:exactMatch omim.ps:189800 Preeclampsia/eclampsia semapv:UnspecifiedMatching +MONDO:0005083 skos:exactMatch omim.ps:177900 Psoriasis semapv:UnspecifiedMatching +MONDO:0005090 skos:exactMatch OMIM:181500 schizophrenia semapv:UnspecifiedMatching +MONDO:0005115 skos:exactMatch omim.ps:600512 Epilepsy, familial temporal lobe semapv:UnspecifiedMatching +MONDO:0005129 skos:exactMatch omim.ps:116200 Cataract semapv:UnspecifiedMatching +MONDO:0005130 skos:exactMatch omim.ps:212750 Celiac disease semapv:UnspecifiedMatching +MONDO:0005144 skos:exactMatch omim.ps:105400 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching +MONDO:0005147 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:UnspecifiedMatching +MONDO:0005148 skos:exactMatch OMIM:125853 iia 2 diabetes mellitus semapv:UnspecifiedMatching +MONDO:0005150 skos:exactMatch omim.ps:603075 Macular degeneration, age-related semapv:UnspecifiedMatching +MONDO:0005180 skos:exactMatch omim.ps:168600 Parkinson disease semapv:UnspecifiedMatching +MONDO:0005260 skos:exactMatch OMIM:209850 autism semapv:UnspecifiedMatching +MONDO:0005265 skos:exactMatch omim.ps:266600 Inflammatory bowel disease semapv:UnspecifiedMatching +MONDO:0005298 skos:exactMatch OMIM:166710 osteoporosis semapv:UnspecifiedMatching +MONDO:0005321 skos:exactMatch omim.ps:136800 Corneal dystrophy, Fuchs endothelial semapv:UnspecifiedMatching +MONDO:0005342 skos:exactMatch omim.ps:161950 IgA nephropathy semapv:UnspecifiedMatching +MONDO:0005345 skos:exactMatch omim.ps:300633 Hypospadias semapv:UnspecifiedMatching +MONDO:0005349 skos:exactMatch omim.ps:166800 Otosclerosis semapv:UnspecifiedMatching +MONDO:0005363 skos:exactMatch omim.ps:603278 Focal segmental glomerulosclerosis semapv:UnspecifiedMatching +MONDO:0005382 skos:exactMatch omim.ps:167250 Paget disease of bone semapv:UnspecifiedMatching +MONDO:0005388 skos:exactMatch omim.ps:109720 Biliary cirrhosis, primary semapv:UnspecifiedMatching +MONDO:0005439 skos:exactMatch omim.ps:143890 Hypercholesterolemia, familial semapv:UnspecifiedMatching +MONDO:0005445 skos:exactMatch omim.ps:608207 Kala-azar, susceptibility to semapv:UnspecifiedMatching +MONDO:0005486 skos:exactMatch omim.ps:106600 Tooth agenesis, selective semapv:UnspecifiedMatching +MONDO:0005500 skos:exactMatch omim.ps:212065 Congenital disorders of glycosylation, type I semapv:UnspecifiedMatching +MONDO:0005501 skos:exactMatch omim.ps:212066 Congenital disorders of glycosylation, type II semapv:UnspecifiedMatching +MONDO:0005508 skos:exactMatch omim.ps:133700 Exostoses, Multiple semapv:UnspecifiedMatching +MONDO:0005514 skos:exactMatch omim.ps:600165 Nanophthalmos semapv:UnspecifiedMatching +MONDO:0005575 skos:exactMatch OMIM:114500 colorectal cancer semapv:UnspecifiedMatching +MONDO:0005579 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:UnspecifiedMatching +MONDO:0005579 skos:exactMatch omim.ps:600669 Epilepsy, idiopathic generalized semapv:UnspecifiedMatching +MONDO:0005711 skos:exactMatch omim.ps:142340 Diaphragmatic hernia semapv:UnspecifiedMatching +MONDO:0005712 skos:exactMatch omim.ps:310700 Nystagmus, congenital semapv:UnspecifiedMatching +MONDO:0005803 skos:exactMatch omim.ps:256450 Hyperinsulinemia hypoglycemia semapv:UnspecifiedMatching +MONDO:0006037 skos:exactMatch omim.ps:236680 Hydrolethalus syndrome semapv:UnspecifiedMatching +MONDO:0006065 skos:exactMatch OMIM:223100 lactose intolerance, adult iia semapv:UnspecifiedMatching +MONDO:0006248 skos:exactMatch omim.ps:231090 Hydatidiform mole, recurrent semapv:UnspecifiedMatching +MONDO:0006292 skos:exactMatch OMIM:156240 mesothelioma, malignant semapv:UnspecifiedMatching +MONDO:0006486 skos:exactMatch OMIM:155720 melanoma, uveal semapv:UnspecifiedMatching +MONDO:0006507 skos:exactMatch omim.ps:235200 Hemochromatosis semapv:UnspecifiedMatching +MONDO:0006536 skos:exactMatch omim.ps:608594 Lipodystrophy, congenital generalized semapv:UnspecifiedMatching +MONDO:0006602 skos:exactMatch omim.ps:175800 Porokeratosis semapv:UnspecifiedMatching +MONDO:0006664 skos:exactMatch omim.ps:108800 Atrial septal defect semapv:UnspecifiedMatching +MONDO:0006761 skos:exactMatch OMIM:135580 fibromuscular dysplasia, arterial semapv:UnspecifiedMatching +MONDO:0007030 skos:exactMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007031 skos:exactMatch omim.ps:100070 Aortic aneurysm, familial abdominal semapv:UnspecifiedMatching +MONDO:0007032 skos:exactMatch OMIM:100100 prune belly syndrome semapv:UnspecifiedMatching +MONDO:0007033 skos:exactMatch OMIM:100200 abducens palsy semapv:UnspecifiedMatching +MONDO:0007034 skos:exactMatch omim.ps:100300 Adams-Oliver syndrome semapv:UnspecifiedMatching +MONDO:0007036 skos:exactMatch OMIM:100700 achard syndrome semapv:UnspecifiedMatching +MONDO:0007037 skos:exactMatch OMIM:100800 achondroplasia semapv:UnspecifiedMatching +MONDO:0007038 skos:exactMatch OMIM:100820 achoo syndrome semapv:UnspecifiedMatching +MONDO:0007039 skos:exactMatch OMIM:101000 schwannomatosis, vestibular semapv:UnspecifiedMatching +MONDO:0007040 skos:exactMatch OMIM:101120 acrocephalopolysyndactyly iia 3 semapv:UnspecifiedMatching +MONDO:0007041 skos:exactMatch OMIM:101200 apert syndrome semapv:UnspecifiedMatching +MONDO:0007042 skos:exactMatch OMIM:101400 saethre-chotzen syndrome semapv:UnspecifiedMatching +MONDO:0007043 skos:exactMatch OMIM:101600 pfeiffer syndrome semapv:UnspecifiedMatching +MONDO:0007044 skos:exactMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:UnspecifiedMatching +MONDO:0007045 skos:exactMatch OMIM:101805 acrofacial dysostosis, catania iia semapv:UnspecifiedMatching +MONDO:0007046 skos:exactMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:UnspecifiedMatching +MONDO:0007047 skos:exactMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:UnspecifiedMatching +MONDO:0007048 skos:exactMatch OMIM:101900 acrokeratosis verruciformis semapv:UnspecifiedMatching +MONDO:0007049 skos:exactMatch OMIM:102000 acroleukopathy, symmetric semapv:UnspecifiedMatching +MONDO:0007050 skos:exactMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:UnspecifiedMatching +MONDO:0007051 skos:exactMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:UnspecifiedMatching +MONDO:0007052 skos:exactMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:UnspecifiedMatching +MONDO:0007053 skos:exactMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007054 skos:exactMatch OMIM:102350 acromial dimples semapv:UnspecifiedMatching +MONDO:0007055 skos:exactMatch OMIM:102370 acromicric dysplasia semapv:UnspecifiedMatching +MONDO:0007056 skos:exactMatch OMIM:102400 acroosteolysis semapv:UnspecifiedMatching +MONDO:0007057 skos:exactMatch OMIM:102500 hajdu-cheney syndrome semapv:UnspecifiedMatching +MONDO:0007058 skos:exactMatch OMIM:102510 acropectorovertebral dysplasia semapv:UnspecifiedMatching +MONDO:0007059 skos:exactMatch OMIM:102520 acrorenal syndrome semapv:UnspecifiedMatching +MONDO:0007060 skos:exactMatch OMIM:102530 spermatogenic failure 6 semapv:UnspecifiedMatching +MONDO:0007061 skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching +MONDO:0007062 skos:exactMatch OMIM:102650 adactylia, unilateral semapv:UnspecifiedMatching +MONDO:0007064 skos:exactMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:UnspecifiedMatching +MONDO:0007066 skos:exactMatch OMIM:102800 adenosine triphosphatase deficiency, anemia due to semapv:UnspecifiedMatching +MONDO:0007067 skos:exactMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:UnspecifiedMatching +MONDO:0007068 skos:exactMatch OMIM:103050 adenylosuccinase deficiency semapv:UnspecifiedMatching +MONDO:0007070 skos:exactMatch OMIM:103200 adiposis dolorosa semapv:UnspecifiedMatching +MONDO:0007071 skos:exactMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:UnspecifiedMatching +MONDO:0007072 skos:exactMatch OMIM:103285 adult syndrome semapv:UnspecifiedMatching +MONDO:0007073 skos:exactMatch OMIM:103300 hypoglossia-hypodactylia semapv:UnspecifiedMatching +MONDO:0007074 skos:exactMatch OMIM:103400 ainhum semapv:UnspecifiedMatching +MONDO:0007075 skos:exactMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007077 skos:exactMatch OMIM:103500 tietz albinism-deafness syndrome semapv:UnspecifiedMatching +MONDO:0007078 skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:UnspecifiedMatching +MONDO:0007079 skos:exactMatch OMIM:103780 alcohol dependence semapv:UnspecifiedMatching +MONDO:0007080 skos:exactMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:UnspecifiedMatching +MONDO:0007082 skos:exactMatch OMIM:104000 alopecia areata 1 semapv:UnspecifiedMatching +MONDO:0007083 skos:exactMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:UnspecifiedMatching +MONDO:0007084 skos:exactMatch OMIM:104110 alopecia, familial focal semapv:UnspecifiedMatching +MONDO:0007085 skos:exactMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:UnspecifiedMatching +MONDO:0007086 skos:exactMatch OMIM:104200 alport syndrome 3a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007087 skos:exactMatch OMIM:104290 alternating hemiplegia of childhood 1 semapv:UnspecifiedMatching +MONDO:0007088 skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:UnspecifiedMatching +MONDO:0007089 skos:exactMatch OMIM:104310 alzheimer disease 2 semapv:UnspecifiedMatching +MONDO:0007090 skos:exactMatch OMIM:104350 amastia, bilateral, with ureteral triplication and dysmorphism semapv:UnspecifiedMatching +MONDO:0007091 skos:exactMatch OMIM:104400 amelia and terminal transverse hemimelia semapv:UnspecifiedMatching +MONDO:0007092 skos:exactMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:UnspecifiedMatching +MONDO:0007093 skos:exactMatch OMIM:104510 amelogenesis imperfecta, iia 4 semapv:UnspecifiedMatching +MONDO:0007094 skos:exactMatch OMIM:104530 amelogenesis imperfecta, iia 1a semapv:UnspecifiedMatching +MONDO:0007095 skos:exactMatch OMIM:104570 ameloonychohypohidrotic syndrome semapv:UnspecifiedMatching +MONDO:0007096 skos:exactMatch OMIM:104600 amenorrhea-galactorrhea syndrome semapv:UnspecifiedMatching +MONDO:0007097 skos:exactMatch OMIM:105120 amyloidosis, finnish iia semapv:UnspecifiedMatching +MONDO:0007098 skos:exactMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:UnspecifiedMatching +MONDO:0007099 skos:exactMatch OMIM:105200 amyloidosis, familial visceral semapv:UnspecifiedMatching +MONDO:0007100 skos:exactMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:UnspecifiedMatching +MONDO:0007101 skos:exactMatch omim.ps:105250 Amyloidosis, primary localized cutaneous semapv:UnspecifiedMatching +MONDO:0007102 skos:exactMatch OMIM:105300 amyotrophic dystonic paraplegia semapv:UnspecifiedMatching +MONDO:0007103 skos:exactMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching +MONDO:0007104 skos:exactMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:UnspecifiedMatching +MONDO:0007105 skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching +MONDO:0007106 skos:exactMatch OMIM:105563 anal sphincter dysplasia semapv:UnspecifiedMatching +MONDO:0007107 skos:exactMatch OMIM:105565 anal sphincter myopathy, internal semapv:UnspecifiedMatching +MONDO:0007108 skos:exactMatch OMIM:105580 anal canal carcinoma semapv:UnspecifiedMatching +MONDO:0007109 skos:exactMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:UnspecifiedMatching +MONDO:0007110 skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:UnspecifiedMatching +MONDO:0007111 skos:exactMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:UnspecifiedMatching +MONDO:0007112 skos:exactMatch OMIM:105805 aneurysm of interventricular septum semapv:UnspecifiedMatching +MONDO:0007113 skos:exactMatch OMIM:105830 angelman syndrome semapv:UnspecifiedMatching +MONDO:0007114 skos:exactMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0007115 skos:exactMatch OMIM:106050 angioma serpiginosum, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007116 skos:exactMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:UnspecifiedMatching +MONDO:0007118 skos:exactMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:UnspecifiedMatching +MONDO:0007119 skos:exactMatch omim.ps:106210 Aniridia semapv:UnspecifiedMatching +MONDO:0007120 skos:exactMatch OMIM:106220 aniridia and absent patella semapv:UnspecifiedMatching +MONDO:0007121 skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching +MONDO:0007122 skos:exactMatch OMIM:106240 anisocoria semapv:UnspecifiedMatching +MONDO:0007123 skos:exactMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:UnspecifiedMatching +MONDO:0007124 skos:exactMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:UnspecifiedMatching +MONDO:0007125 skos:exactMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:UnspecifiedMatching +MONDO:0007126 skos:exactMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007128 skos:exactMatch OMIM:106500 annular erythema semapv:UnspecifiedMatching +MONDO:0007129 skos:exactMatch OMIM:106600 tooth agenesis, selective, 1 semapv:UnspecifiedMatching +MONDO:0007130 skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:UnspecifiedMatching +MONDO:0007131 skos:exactMatch OMIM:106750 anonychia with flexural pigmentation semapv:UnspecifiedMatching +MONDO:0007132 skos:exactMatch OMIM:106900 anonychia-ectrodactyly semapv:UnspecifiedMatching +MONDO:0007133 skos:exactMatch OMIM:106990 anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly semapv:UnspecifiedMatching +MONDO:0007134 skos:exactMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:UnspecifiedMatching +MONDO:0007135 skos:exactMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:UnspecifiedMatching +MONDO:0007136 skos:exactMatch OMIM:107100 anorectal anomalies semapv:UnspecifiedMatching +MONDO:0007137 skos:exactMatch OMIM:107200 anosmia, isolated congenital semapv:UnspecifiedMatching +MONDO:0007138 skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:UnspecifiedMatching +MONDO:0007139 skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching +MONDO:0007141 skos:exactMatch OMIM:107440 antiviral state repressor, regulator of semapv:UnspecifiedMatching +MONDO:0007142 skos:exactMatch omim.ps:107480 Townes-Brocks syndrome semapv:UnspecifiedMatching +MONDO:0007143 skos:exactMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:UnspecifiedMatching +MONDO:0007144 skos:exactMatch OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma semapv:UnspecifiedMatching +MONDO:0007145 skos:exactMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:UnspecifiedMatching +MONDO:0007147 skos:exactMatch OMIM:107650 apnea, obstructive sleep semapv:UnspecifiedMatching +MONDO:0007148 skos:exactMatch OMIM:107700 appendicitis, proneness to semapv:UnspecifiedMatching +MONDO:0007149 skos:exactMatch OMIM:107750 arbitrary restriction polymorphism 1 semapv:UnspecifiedMatching +MONDO:0007150 skos:exactMatch OMIM:107800 arcus corneae semapv:UnspecifiedMatching +MONDO:0007151 skos:exactMatch OMIM:107900 arms, malformation of semapv:UnspecifiedMatching +MONDO:0007152 skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:UnspecifiedMatching +MONDO:0007153 skos:exactMatch OMIM:108000 arteries, anomalies of semapv:UnspecifiedMatching +MONDO:0007154 skos:exactMatch OMIM:108010 arteriovenous malformations of the brain semapv:UnspecifiedMatching +MONDO:0007155 skos:exactMatch OMIM:108050 arteritis, familial granulomatous, with juvenile polyarthritis semapv:UnspecifiedMatching +MONDO:0007156 skos:exactMatch OMIM:108100 arthritis, sacroiliac semapv:UnspecifiedMatching +MONDO:0007157 skos:exactMatch OMIM:108120 arthrogryposis, distal, iia 1a semapv:UnspecifiedMatching +MONDO:0007158 skos:exactMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:UnspecifiedMatching +MONDO:0007159 skos:exactMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:UnspecifiedMatching +MONDO:0007160 skos:exactMatch OMIM:108300 stickler syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0007161 skos:exactMatch OMIM:108420 spermatogenic failure 2 semapv:UnspecifiedMatching +MONDO:0007162 skos:exactMatch OMIM:108450 asymmetric short stature syndrome semapv:UnspecifiedMatching +MONDO:0007163 skos:exactMatch OMIM:108500 episodic ataxia, iia 2 semapv:UnspecifiedMatching +MONDO:0007164 skos:exactMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007165 skos:exactMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007166 skos:exactMatch OMIM:108700 ataxia with fasciculations semapv:UnspecifiedMatching +MONDO:0007167 skos:exactMatch OMIM:108720 atelosteogenesis, iia 1 semapv:UnspecifiedMatching +MONDO:0007168 skos:exactMatch OMIM:108721 atelosteogenesis, iia 3 semapv:UnspecifiedMatching +MONDO:0007169 skos:exactMatch OMIM:108725 atherosclerosis susceptibility semapv:UnspecifiedMatching +MONDO:0007170 skos:exactMatch OMIM:108760 atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching +MONDO:0007171 skos:exactMatch OMIM:108770 atrial standstill 1 semapv:UnspecifiedMatching +MONDO:0007172 skos:exactMatch OMIM:108800 atrial septal defect 1 semapv:UnspecifiedMatching +MONDO:0007173 skos:exactMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:UnspecifiedMatching +MONDO:0007174 skos:exactMatch OMIM:108950 atrial tachyarrhythmia with short pr interval semapv:UnspecifiedMatching +MONDO:0007175 skos:exactMatch OMIM:108980 pr interval, variation 1n semapv:UnspecifiedMatching +MONDO:0007176 skos:exactMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:UnspecifiedMatching +MONDO:0007177 skos:exactMatch OMIM:109000 auriculoosteodysplasia semapv:UnspecifiedMatching +MONDO:0007178 skos:exactMatch OMIM:109050 aurocephalosyndactyly semapv:UnspecifiedMatching +MONDO:0007179 skos:exactMatch OMIM:109100 autoimmune disease semapv:UnspecifiedMatching +MONDO:0007180 skos:exactMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0007181 skos:exactMatch OMIM:109130 axial osteomalacia semapv:UnspecifiedMatching +MONDO:0007182 skos:exactMatch OMIM:109150 machado-joseph disease semapv:UnspecifiedMatching +MONDO:0007183 skos:exactMatch OMIM:109160 azotemia, familial semapv:UnspecifiedMatching +MONDO:0007184 skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:UnspecifiedMatching +MONDO:0007185 skos:exactMatch OMIM:109300 banki syndrome semapv:UnspecifiedMatching +MONDO:0007186 skos:exactMatch OMIM:109350 gastroesophageal reflux semapv:UnspecifiedMatching +MONDO:0007187 skos:exactMatch omim.ps:109400 Basal cell nevus syndrome semapv:UnspecifiedMatching +MONDO:0007188 skos:exactMatch OMIM:109500 basilar impression, primary semapv:UnspecifiedMatching +MONDO:0007189 skos:exactMatch OMIM:109540 b-cell growth factor semapv:UnspecifiedMatching +MONDO:0007190 skos:exactMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0007191 skos:exactMatch OMIM:109650 Behcet syndrome semapv:UnspecifiedMatching +MONDO:0007192 skos:exactMatch OMIM:109660 beta-amino acids, renal transport of semapv:UnspecifiedMatching +MONDO:0007193 skos:exactMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:UnspecifiedMatching +MONDO:0007194 skos:exactMatch omim.ps:109730 Aortic valve disease semapv:UnspecifiedMatching +MONDO:0007195 skos:exactMatch OMIM:109740 bifid nose, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007197 skos:exactMatch OMIM:109820 bladder diverticulum semapv:UnspecifiedMatching +MONDO:0007198 skos:exactMatch OMIM:109900 blepharochalasis and double 51p semapv:UnspecifiedMatching +MONDO:0007199 skos:exactMatch OMIM:110000 blepharochalasis, superior semapv:UnspecifiedMatching +MONDO:0007200 skos:exactMatch OMIM:110050 blepharonasofacial malformation syndrome semapv:UnspecifiedMatching +MONDO:0007201 skos:exactMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:UnspecifiedMatching +MONDO:0007202 skos:exactMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:UnspecifiedMatching +MONDO:0007203 skos:exactMatch OMIM:112200 blue rubber bleb nevus semapv:UnspecifiedMatching +MONDO:0007204 skos:exactMatch OMIM:112240 cole-carpenter syndrome 1 semapv:UnspecifiedMatching +MONDO:0007205 skos:exactMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:UnspecifiedMatching +MONDO:0007206 skos:exactMatch OMIM:112270 bone pain, periodic semapv:UnspecifiedMatching +MONDO:0007207 skos:exactMatch OMIM:112300 book syndrome semapv:UnspecifiedMatching +MONDO:0007208 skos:exactMatch OMIM:112310 boomerang dysplasia semapv:UnspecifiedMatching +MONDO:0007209 skos:exactMatch OMIM:112350 weismann-netter syndrome semapv:UnspecifiedMatching +MONDO:0007210 skos:exactMatch OMIM:112370 brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay semapv:UnspecifiedMatching +MONDO:0007211 skos:exactMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:UnspecifiedMatching +MONDO:0007212 skos:exactMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:UnspecifiedMatching +MONDO:0007213 skos:exactMatch OMIM:112440 brachydactyly, combined B and e types semapv:UnspecifiedMatching +MONDO:0007214 skos:exactMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:UnspecifiedMatching +MONDO:0007215 skos:exactMatch OMIM:112500 brachydactyly, iia a1 semapv:UnspecifiedMatching +MONDO:0007216 skos:exactMatch OMIM:112600 brachydactyly, iia a2 semapv:UnspecifiedMatching +MONDO:0007217 skos:exactMatch OMIM:112700 brachydactyly, iia a3 semapv:UnspecifiedMatching +MONDO:0007218 skos:exactMatch OMIM:112800 brachydactyly, iia a4 semapv:UnspecifiedMatching +MONDO:0007219 skos:exactMatch OMIM:112910 osebold-remondini syndrome semapv:UnspecifiedMatching +MONDO:0007220 skos:exactMatch OMIM:113000 brachydactyly, iia b1 semapv:UnspecifiedMatching +MONDO:0007221 skos:exactMatch OMIM:113100 brachydactyly, iia c semapv:UnspecifiedMatching +MONDO:0007222 skos:exactMatch OMIM:113200 brachydactyly, iia d semapv:UnspecifiedMatching +MONDO:0007223 skos:exactMatch OMIM:113300 brachydactyly, iia e1 semapv:UnspecifiedMatching +MONDO:0007224 skos:exactMatch OMIM:113301 brachydactyly, iia e, with atrial septal defect, iia 2 semapv:UnspecifiedMatching +MONDO:0007225 skos:exactMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:UnspecifiedMatching +MONDO:0007226 skos:exactMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0007227 skos:exactMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:UnspecifiedMatching +MONDO:0007228 skos:exactMatch OMIM:113470 brachymesomelia-renal syndrome semapv:UnspecifiedMatching +MONDO:0007229 skos:exactMatch OMIM:113475 brachymetatarsus 4 semapv:UnspecifiedMatching +MONDO:0007230 skos:exactMatch OMIM:113477 brachymorphism-onychodysplasia-dysphalangism syndrome semapv:UnspecifiedMatching +MONDO:0007231 skos:exactMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:UnspecifiedMatching +MONDO:0007232 skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:UnspecifiedMatching +MONDO:0007233 skos:exactMatch OMIM:113600 branchial cleft anomalies semapv:UnspecifiedMatching +MONDO:0007234 skos:exactMatch OMIM:113610 branchial myoclonus with spastic paraparesis and cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0007235 skos:exactMatch OMIM:113620 branchiooculofacial syndrome semapv:UnspecifiedMatching +MONDO:0007236 skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:UnspecifiedMatching +MONDO:0007237 skos:exactMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:UnspecifiedMatching +MONDO:0007239 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching +MONDO:0007240 skos:exactMatch OMIM:113900 progressive familial heart block, iia 1a semapv:UnspecifiedMatching +MONDO:0007241 skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:UnspecifiedMatching +MONDO:0007242 skos:exactMatch OMIM:113960 butyrylesterase 1 semapv:UnspecifiedMatching +MONDO:0007243 skos:exactMatch OMIM:113970 burkitt lymphoma semapv:UnspecifiedMatching +MONDO:0007244 skos:exactMatch OMIM:114000 caffey disease semapv:UnspecifiedMatching +MONDO:0007245 skos:exactMatch OMIM:114030 cafe-au-lait spots, multiple semapv:UnspecifiedMatching +MONDO:0007246 skos:exactMatch OMIM:114065 calcific aortic disease with immunologic abnormalities, familial semapv:UnspecifiedMatching +MONDO:0007247 skos:exactMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:UnspecifiedMatching +MONDO:0007248 skos:exactMatch OMIM:114140 callosities, hereditary painful semapv:UnspecifiedMatching +MONDO:0007249 skos:exactMatch OMIM:114150 camptobrachydactyly semapv:UnspecifiedMatching +MONDO:0007250 skos:exactMatch OMIM:114200 camptodactyly 1 semapv:UnspecifiedMatching +MONDO:0007251 skos:exactMatch OMIM:114290 campomelic dysplasia semapv:UnspecifiedMatching +MONDO:0007252 skos:exactMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:UnspecifiedMatching +MONDO:0007253 skos:exactMatch OMIM:114450 cancer, familial, with 1n vitro radioresistance semapv:UnspecifiedMatching +MONDO:0007256 skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:UnspecifiedMatching +MONDO:0007257 skos:exactMatch OMIM:114580 candidiasis, familial, 1 semapv:UnspecifiedMatching +MONDO:0007258 skos:exactMatch OMIM:114600 canine teeth, absence of upper permanent semapv:UnspecifiedMatching +MONDO:0007259 skos:exactMatch OMIM:114620 craniofaciofrontodigital syndrome semapv:UnspecifiedMatching +MONDO:0007260 skos:exactMatch OMIM:114650 car factor deficiency semapv:UnspecifiedMatching +MONDO:0007261 skos:exactMatch OMIM:114700 carabelli anomaly of maxillary molar teeth semapv:UnspecifiedMatching +MONDO:0007265 skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:UnspecifiedMatching +MONDO:0007266 skos:exactMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:UnspecifiedMatching +MONDO:0007267 skos:exactMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:UnspecifiedMatching +MONDO:0007268 skos:exactMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:UnspecifiedMatching +MONDO:0007269 skos:exactMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:UnspecifiedMatching +MONDO:0007270 skos:exactMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:UnspecifiedMatching +MONDO:0007271 skos:exactMatch OMIM:115250 collagenoma, familial cutaneous semapv:UnspecifiedMatching +MONDO:0007272 skos:exactMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007273 skos:exactMatch OMIM:115310 pheochromocytoma/paraganglioma syndrome 4 semapv:UnspecifiedMatching +MONDO:0007274 skos:exactMatch OMIM:115400 carpal displacement semapv:UnspecifiedMatching +MONDO:0007275 skos:exactMatch omim.ps:115430 Carpal tunnel syndrome semapv:UnspecifiedMatching +MONDO:0007276 skos:exactMatch OMIM:115470 cat eye syndrome semapv:UnspecifiedMatching +MONDO:0007277 skos:exactMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:UnspecifiedMatching +MONDO:0007278 skos:exactMatch OMIM:115650 cataract 32, multiple types semapv:UnspecifiedMatching +MONDO:0007279 skos:exactMatch OMIM:115660 cataract 7 semapv:UnspecifiedMatching +MONDO:0007280 skos:exactMatch OMIM:115665 cataract 8, multiple types semapv:UnspecifiedMatching +MONDO:0007281 skos:exactMatch OMIM:115700 cataract 4, multiple types semapv:UnspecifiedMatching +MONDO:0007282 skos:exactMatch OMIM:115800 cataract 29 semapv:UnspecifiedMatching +MONDO:0007283 skos:exactMatch OMIM:115900 cataract 42 semapv:UnspecifiedMatching +MONDO:0007284 skos:exactMatch OMIM:116100 cataract 20, multiple types semapv:UnspecifiedMatching +MONDO:0007285 skos:exactMatch OMIM:116200 cataract 1, multiple types semapv:UnspecifiedMatching +MONDO:0007286 skos:exactMatch OMIM:116300 cataract 30, multiple types semapv:UnspecifiedMatching +MONDO:0007287 skos:exactMatch OMIM:116400 cataract 41 semapv:UnspecifiedMatching +MONDO:0007288 skos:exactMatch OMIM:116600 cataract 6, multiple types semapv:UnspecifiedMatching +MONDO:0007289 skos:exactMatch OMIM:116700 cataract 13 with adult i phenotype semapv:UnspecifiedMatching +MONDO:0007290 skos:exactMatch OMIM:116800 cataract 5, multiple types semapv:UnspecifiedMatching +MONDO:0007293 skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:UnspecifiedMatching +MONDO:0007294 skos:exactMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:UnspecifiedMatching +MONDO:0007295 skos:exactMatch OMIM:117100 centralopathic epilepsy semapv:UnspecifiedMatching +MONDO:0007296 skos:exactMatch OMIM:117210 spinocerebellar ataxia 31 semapv:UnspecifiedMatching +MONDO:0007297 skos:exactMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:UnspecifiedMatching +MONDO:0007298 skos:exactMatch OMIM:117360 spinocerebellar ataxia 29 semapv:UnspecifiedMatching +MONDO:0007300 skos:exactMatch OMIM:117600 cerebral sarcoma semapv:UnspecifiedMatching +MONDO:0007301 skos:exactMatch OMIM:117650 cerebrocostomandibular syndrome semapv:UnspecifiedMatching +MONDO:0007302 skos:exactMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:UnspecifiedMatching +MONDO:0007303 skos:exactMatch OMIM:117900 cervical rib semapv:UnspecifiedMatching +MONDO:0007304 skos:exactMatch OMIM:118000 cervical vertebral bridge semapv:UnspecifiedMatching +MONDO:0007305 skos:exactMatch OMIM:118005 cervical vertebral dysplasia semapv:UnspecifiedMatching +MONDO:0007306 skos:exactMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007307 skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:UnspecifiedMatching +MONDO:0007308 skos:exactMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:UnspecifiedMatching +MONDO:0007309 skos:exactMatch OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a semapv:UnspecifiedMatching +MONDO:0007310 skos:exactMatch OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal iia semapv:UnspecifiedMatching +MONDO:0007311 skos:exactMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:UnspecifiedMatching +MONDO:0007312 skos:exactMatch OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism semapv:UnspecifiedMatching +MONDO:0007313 skos:exactMatch OMIM:118330 cheilitis glandularis semapv:UnspecifiedMatching +MONDO:0007314 skos:exactMatch OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas semapv:UnspecifiedMatching +MONDO:0007315 skos:exactMatch OMIM:118400 cherubism semapv:UnspecifiedMatching +MONDO:0007316 skos:exactMatch OMIM:118420 chiari malformation iia 1 semapv:UnspecifiedMatching +MONDO:0007317 skos:exactMatch OMIM:118430 chlorpropamide-alcohol flushing semapv:UnspecifiedMatching +MONDO:0007318 skos:exactMatch omim.ps:118450 Alagille syndrome semapv:UnspecifiedMatching +MONDO:0007319 skos:exactMatch OMIM:118600 chondrocalcinosis 2 semapv:UnspecifiedMatching +MONDO:0007320 skos:exactMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:UnspecifiedMatching +MONDO:0007321 skos:exactMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007322 skos:exactMatch OMIM:118651 chondrodysplasia punctata, tibia-metacarpal iia semapv:UnspecifiedMatching +MONDO:0007323 skos:exactMatch OMIM:118670 chondronectin semapv:UnspecifiedMatching +MONDO:0007325 skos:exactMatch OMIM:118750 choreoathetosis, familial inverted semapv:UnspecifiedMatching +MONDO:0007327 skos:exactMatch OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase semapv:UnspecifiedMatching +MONDO:0007328 skos:exactMatch OMIM:118865 choroidal osteoma, bilateral semapv:UnspecifiedMatching +MONDO:0007329 skos:exactMatch OMIM:215600 cirrhosis, familial semapv:UnspecifiedMatching +MONDO:0007330 skos:exactMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:UnspecifiedMatching +MONDO:0007331 skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching +MONDO:0007332 skos:exactMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:UnspecifiedMatching +MONDO:0007333 skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:UnspecifiedMatching +MONDO:0007334 skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:UnspecifiedMatching +MONDO:0007335 skos:exactMatch OMIM:119530 orofacial cleft 1 semapv:UnspecifiedMatching +MONDO:0007336 skos:exactMatch OMIM:119540 cleft palate, isolated semapv:UnspecifiedMatching +MONDO:0007337 skos:exactMatch OMIM:119550 syngnathia semapv:UnspecifiedMatching +MONDO:0007338 skos:exactMatch OMIM:119570 cleft soft palate semapv:UnspecifiedMatching +MONDO:0007339 skos:exactMatch omim.ps:119580 Blepharocheilodontic syndrome semapv:UnspecifiedMatching +MONDO:0007340 skos:exactMatch OMIM:119600 cleidocranial dysplasia 1 semapv:UnspecifiedMatching +MONDO:0007341 skos:exactMatch OMIM:119650 cleidorhizomelic syndrome semapv:UnspecifiedMatching +MONDO:0007342 skos:exactMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:UnspecifiedMatching +MONDO:0007343 skos:exactMatch OMIM:119900 digital clubbing, isolated congenital semapv:UnspecifiedMatching +MONDO:0007344 skos:exactMatch OMIM:119915 cluster headache, familial semapv:UnspecifiedMatching +MONDO:0007345 skos:exactMatch OMIM:120000 coarctation of aorta semapv:UnspecifiedMatching +MONDO:0007346 skos:exactMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:UnspecifiedMatching +MONDO:0007347 skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching +MONDO:0007348 skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching +MONDO:0007349 skos:exactMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:UnspecifiedMatching +MONDO:0007350 skos:exactMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007351 skos:exactMatch OMIM:120300 coloboma of macula semapv:UnspecifiedMatching +MONDO:0007352 skos:exactMatch OMIM:120330 papillorenal syndrome semapv:UnspecifiedMatching +MONDO:0007353 skos:exactMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:UnspecifiedMatching +MONDO:0007354 skos:exactMatch OMIM:120430 coloboma of optic nerve semapv:UnspecifiedMatching +MONDO:0007355 skos:exactMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:UnspecifiedMatching +MONDO:0007356 skos:exactMatch OMIM:120435 lynch syndrome 1 semapv:UnspecifiedMatching +MONDO:0007357 skos:exactMatch OMIM:120440 colonic varices without portal hypertension semapv:UnspecifiedMatching +MONDO:0007358 skos:exactMatch OMIM:120450 comedones, familial dyskeratotic semapv:UnspecifiedMatching +MONDO:0007359 skos:exactMatch OMIM:120500 commissural 51p pits semapv:UnspecifiedMatching +MONDO:0007360 skos:exactMatch OMIM:120502 branchiootic syndrome 2 semapv:UnspecifiedMatching +MONDO:0007361 skos:exactMatch OMIM:120790 complement component 4, partial deficiency of semapv:UnspecifiedMatching +MONDO:0007362 skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:UnspecifiedMatching +MONDO:0007363 skos:exactMatch OMIM:121050 contractural arachnodactyly, congenital semapv:UnspecifiedMatching +MONDO:0007364 skos:exactMatch OMIM:121070 arthrogryposis, distal, iia 2e semapv:UnspecifiedMatching +MONDO:0007365 skos:exactMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:UnspecifiedMatching +MONDO:0007366 skos:exactMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:UnspecifiedMatching +MONDO:0007367 skos:exactMatch OMIM:121210 febrile seizures, familial, 1 semapv:UnspecifiedMatching +MONDO:0007368 skos:exactMatch OMIM:121270 copper deficiency, familial benign semapv:UnspecifiedMatching +MONDO:0007369 skos:exactMatch OMIM:121300 coproporphyria, hereditary semapv:UnspecifiedMatching +MONDO:0007370 skos:exactMatch OMIM:121350 coracoclavicular joint, anomalous semapv:UnspecifiedMatching +MONDO:0007371 skos:exactMatch OMIM:121390 cornea guttata with anterior polar cataracts semapv:UnspecifiedMatching +MONDO:0007372 skos:exactMatch OMIM:121400 cornea plana 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007373 skos:exactMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:UnspecifiedMatching +MONDO:0007374 skos:exactMatch OMIM:121800 schnyder corneal dystrophy semapv:UnspecifiedMatching +MONDO:0007375 skos:exactMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:UnspecifiedMatching +MONDO:0007376 skos:exactMatch OMIM:121850 corneal dystrophy, fleck semapv:UnspecifiedMatching +MONDO:0007377 skos:exactMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:UnspecifiedMatching +MONDO:0007378 skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:UnspecifiedMatching +MONDO:0007379 skos:exactMatch omim.ps:122100 Corneal dystrophy, Meesmann semapv:UnspecifiedMatching +MONDO:0007380 skos:exactMatch OMIM:122200 corneal dystrophy, lattice iia 1 semapv:UnspecifiedMatching +MONDO:0007381 skos:exactMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching +MONDO:0007382 skos:exactMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:UnspecifiedMatching +MONDO:0007383 skos:exactMatch OMIM:122440 corneodermatoosseous syndrome semapv:UnspecifiedMatching +MONDO:0007384 skos:exactMatch OMIM:122450 corneal hypesthesia, familial semapv:UnspecifiedMatching +MONDO:0007385 skos:exactMatch OMIM:122455 coronary artery dissection, spontaneous semapv:UnspecifiedMatching +MONDO:0007386 skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching +MONDO:0007387 skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:UnspecifiedMatching +MONDO:0007388 skos:exactMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:UnspecifiedMatching +MONDO:0007389 skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:UnspecifiedMatching +MONDO:0007390 skos:exactMatch OMIM:122700 coumarin resistance semapv:UnspecifiedMatching +MONDO:0007391 skos:exactMatch OMIM:122750 coxa vara semapv:UnspecifiedMatching +MONDO:0007392 skos:exactMatch OMIM:122780 coxoauricular syndrome semapv:UnspecifiedMatching +MONDO:0007393 skos:exactMatch OMIM:122850 cranioacrofacial syndrome semapv:UnspecifiedMatching +MONDO:0007395 skos:exactMatch OMIM:122880 craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching +MONDO:0007396 skos:exactMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:UnspecifiedMatching +MONDO:0007397 skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007398 skos:exactMatch OMIM:123050 craniorhiny semapv:UnspecifiedMatching +MONDO:0007399 skos:exactMatch OMIM:123100 craniosynostosis 1 semapv:UnspecifiedMatching +MONDO:0007400 skos:exactMatch OMIM:123150 jackson-weiss syndrome semapv:UnspecifiedMatching +MONDO:0007401 skos:exactMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007402 skos:exactMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:UnspecifiedMatching +MONDO:0007403 skos:exactMatch OMIM:123400 creutzfeldt-jakob disease semapv:UnspecifiedMatching +MONDO:0007404 skos:exactMatch OMIM:123450 cri-du-chat syndrome semapv:UnspecifiedMatching +MONDO:0007405 skos:exactMatch OMIM:123500 crouzon syndrome semapv:UnspecifiedMatching +MONDO:0007406 skos:exactMatch OMIM:123540 cryofibrinogenemia, familial primary semapv:UnspecifiedMatching +MONDO:0007407 skos:exactMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:UnspecifiedMatching +MONDO:0007408 skos:exactMatch OMIM:123557 cryptotia, familial semapv:UnspecifiedMatching +MONDO:0007409 skos:exactMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:UnspecifiedMatching +MONDO:0007410 skos:exactMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:UnspecifiedMatching +MONDO:0007411 skos:exactMatch OMIM:123700 cutis laxa, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0007412 skos:exactMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:UnspecifiedMatching +MONDO:0007413 skos:exactMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:UnspecifiedMatching +MONDO:0007414 skos:exactMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:UnspecifiedMatching +MONDO:0007415 skos:exactMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 semapv:UnspecifiedMatching +MONDO:0007416 skos:exactMatch OMIM:124100 danubian endemic familial nephropathy semapv:UnspecifiedMatching +MONDO:0007417 skos:exactMatch OMIM:124200 darier-white disease semapv:UnspecifiedMatching +MONDO:0007418 skos:exactMatch OMIM:124300 darwinian tubercle of pinna semapv:UnspecifiedMatching +MONDO:0007420 skos:exactMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007421 skos:exactMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:UnspecifiedMatching +MONDO:0007422 skos:exactMatch OMIM:124500 vohwinkel syndrome semapv:UnspecifiedMatching +MONDO:0007423 skos:exactMatch OMIM:124700 deafness, mid-tone neural semapv:UnspecifiedMatching +MONDO:0007424 skos:exactMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:UnspecifiedMatching +MONDO:0007425 skos:exactMatch OMIM:124950 deafness, sensorineural, with peripheral neuropathy and arterial disease semapv:UnspecifiedMatching +MONDO:0007426 skos:exactMatch OMIM:125000 deafness, unilateral semapv:UnspecifiedMatching +MONDO:0007427 skos:exactMatch OMIM:125050 deafness with anhidrotic ectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0007428 skos:exactMatch OMIM:125230 deafness-craniofacial syndrome semapv:UnspecifiedMatching +MONDO:0007429 skos:exactMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:UnspecifiedMatching +MONDO:0007430 skos:exactMatch OMIM:125280 dens evaginatus semapv:UnspecifiedMatching +MONDO:0007431 skos:exactMatch OMIM:125300 dens 1n dente and palatal invaginations semapv:UnspecifiedMatching +MONDO:0007432 skos:exactMatch omim.ps:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0007433 skos:exactMatch OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques semapv:UnspecifiedMatching +MONDO:0007434 skos:exactMatch OMIM:125350 failure of tooth eruption, primary semapv:UnspecifiedMatching +MONDO:0007435 skos:exactMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:UnspecifiedMatching +MONDO:0007436 skos:exactMatch OMIM:125400 dentin dysplasia, iia 1 semapv:UnspecifiedMatching +MONDO:0007437 skos:exactMatch OMIM:125420 dentin dysplasia, iia 2 semapv:UnspecifiedMatching +MONDO:0007438 skos:exactMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:UnspecifiedMatching +MONDO:0007439 skos:exactMatch OMIM:125460 deoxyribose-5-phosphate aldolase deficiency semapv:UnspecifiedMatching +MONDO:0007440 skos:exactMatch OMIM:125480 major affective disorder 1 semapv:UnspecifiedMatching +MONDO:0007441 skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:UnspecifiedMatching +MONDO:0007442 skos:exactMatch OMIM:125500 dentinogenesis imperfecta, shields iia 3 semapv:UnspecifiedMatching +MONDO:0007443 skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:UnspecifiedMatching +MONDO:0007444 skos:exactMatch OMIM:125540 dermal ridges, patternless semapv:UnspecifiedMatching +MONDO:0007445 skos:exactMatch OMIM:125595 dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching +MONDO:0007446 skos:exactMatch OMIM:125600 dermatosis papulosa nigra semapv:UnspecifiedMatching +MONDO:0007447 skos:exactMatch OMIM:125630 vibratory urticaria semapv:UnspecifiedMatching +MONDO:0007448 skos:exactMatch OMIM:125635 dermographism, familial semapv:UnspecifiedMatching +MONDO:0007449 skos:exactMatch OMIM:125640 dermoodontodysplasia semapv:UnspecifiedMatching +MONDO:0007450 skos:exactMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:UnspecifiedMatching +MONDO:0007451 skos:exactMatch OMIM:125800 diabetes insipidus, nephrogenic, 2, autosomal semapv:UnspecifiedMatching +MONDO:0007452 skos:exactMatch OMIM:125850 maturity-onset diabetes of the young, iia 1 semapv:UnspecifiedMatching +MONDO:0007453 skos:exactMatch OMIM:125851 maturity-onset diabetes of the young, iia 2 semapv:UnspecifiedMatching +MONDO:0007454 skos:exactMatch OMIM:125852 iia 1 diabetes mellitus 2 semapv:UnspecifiedMatching +MONDO:0007456 skos:exactMatch OMIM:125890 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency semapv:UnspecifiedMatching +MONDO:0007457 skos:exactMatch OMIM:125900 diastema, dental medial semapv:UnspecifiedMatching +MONDO:0007458 skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:UnspecifiedMatching +MONDO:0007459 skos:exactMatch OMIM:126070 dilution, pigmentary semapv:UnspecifiedMatching +MONDO:0007460 skos:exactMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:UnspecifiedMatching +MONDO:0007461 skos:exactMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:UnspecifiedMatching +MONDO:0007462 skos:exactMatch omim.ps:126200 Multiple sclerosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0007463 skos:exactMatch OMIM:126250 distal osteosclerosis semapv:UnspecifiedMatching +MONDO:0007464 skos:exactMatch OMIM:126300 distichiasis semapv:UnspecifiedMatching +MONDO:0007465 skos:exactMatch OMIM:126320 distichiasis with congenital anomalies of the heart and peripheral vasculature semapv:UnspecifiedMatching +MONDO:0007466 skos:exactMatch OMIM:126370 dna, satellite, 3 semapv:UnspecifiedMatching +MONDO:0007467 skos:exactMatch OMIM:126390 dna, low-repetitive sequences of semapv:UnspecifiedMatching +MONDO:0007468 skos:exactMatch OMIM:126410 dna, satellite, alpha iia semapv:UnspecifiedMatching +MONDO:0007469 skos:exactMatch OMIM:126500 double nail for fifth toe semapv:UnspecifiedMatching +MONDO:0007470 skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:UnspecifiedMatching +MONDO:0007471 skos:exactMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:UnspecifiedMatching +MONDO:0007472 skos:exactMatch OMIM:126700 basal laminar drusen semapv:UnspecifiedMatching +MONDO:0007473 skos:exactMatch omim.ps:126800 Duane retraction syndrome semapv:UnspecifiedMatching +MONDO:0007474 skos:exactMatch OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction semapv:UnspecifiedMatching +MONDO:0007475 skos:exactMatch OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 semapv:UnspecifiedMatching +MONDO:0007476 skos:exactMatch OMIM:126900 dupuytren contracture semapv:UnspecifiedMatching +MONDO:0007477 skos:exactMatch omim.ps:273750 Three M syndrome semapv:UnspecifiedMatching +MONDO:0007478 skos:exactMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0007479 skos:exactMatch OMIM:127100 dwarfism, levi iia semapv:UnspecifiedMatching +MONDO:0007480 skos:exactMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:UnspecifiedMatching +MONDO:0007481 skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:UnspecifiedMatching +MONDO:0007482 skos:exactMatch OMIM:127350 dyschondrosteosis and nephritis semapv:UnspecifiedMatching +MONDO:0007483 skos:exactMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching +MONDO:0007485 skos:exactMatch OMIM:127550 dyskeratosis congenita, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0007486 skos:exactMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:UnspecifiedMatching +MONDO:0007487 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007488 skos:exactMatch OMIM:127750 dementia, lewy body semapv:UnspecifiedMatching +MONDO:0007489 skos:exactMatch OMIM:127800 dysplasia epiphysealis hemimelica semapv:UnspecifiedMatching +MONDO:0007490 skos:exactMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:UnspecifiedMatching +MONDO:0007491 skos:exactMatch OMIM:128000 dystelephalangy semapv:UnspecifiedMatching +MONDO:0007492 skos:exactMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007493 skos:exactMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007495 skos:exactMatch OMIM:128230 dystonia, dopa-responsive semapv:UnspecifiedMatching +MONDO:0007496 skos:exactMatch OMIM:128235 dystonia 12 semapv:UnspecifiedMatching +MONDO:0007497 skos:exactMatch OMIM:128290 ear antitragus, tag at base of semapv:UnspecifiedMatching +MONDO:0007498 skos:exactMatch OMIM:128300 ear exostoses semapv:UnspecifiedMatching +MONDO:0007499 skos:exactMatch OMIM:128500 ear folding semapv:UnspecifiedMatching +MONDO:0007500 skos:exactMatch OMIM:128600 ear malformation semapv:UnspecifiedMatching +MONDO:0007501 skos:exactMatch OMIM:128700 preauricular fistulae, congenital semapv:UnspecifiedMatching +MONDO:0007502 skos:exactMatch OMIM:128710 ear pits, posterior helical semapv:UnspecifiedMatching +MONDO:0007503 skos:exactMatch OMIM:128800 ear without helix semapv:UnspecifiedMatching +MONDO:0007504 skos:exactMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:UnspecifiedMatching +MONDO:0007505 skos:exactMatch OMIM:129000 earring holes, natural semapv:UnspecifiedMatching +MONDO:0007506 skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching +MONDO:0007507 skos:exactMatch OMIM:129200 basan syndrome semapv:UnspecifiedMatching +MONDO:0007508 skos:exactMatch OMIM:129400 rapp-hodgkin syndrome semapv:UnspecifiedMatching +MONDO:0007509 skos:exactMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007510 skos:exactMatch OMIM:129500 clouston syndrome semapv:UnspecifiedMatching +MONDO:0007511 skos:exactMatch OMIM:129510 ectodermal dysplasia, trichoodontoonychial iia semapv:UnspecifiedMatching +MONDO:0007512 skos:exactMatch OMIM:129540 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet semapv:UnspecifiedMatching +MONDO:0007513 skos:exactMatch OMIM:129550 ectodermal dysplasia with adrenal cyst semapv:UnspecifiedMatching +MONDO:0007514 skos:exactMatch OMIM:129600 ectopia lentis 1, isolated, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007515 skos:exactMatch OMIM:129750 ectopia pupillae semapv:UnspecifiedMatching +MONDO:0007516 skos:exactMatch OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate semapv:UnspecifiedMatching +MONDO:0007517 skos:exactMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:UnspecifiedMatching +MONDO:0007518 skos:exactMatch OMIM:129840 edema, familial idiopathic, prepubertal semapv:UnspecifiedMatching +MONDO:0007519 skos:exactMatch OMIM:129850 edinburgh malformation syndrome semapv:UnspecifiedMatching +MONDO:0007520 skos:exactMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:UnspecifiedMatching +MONDO:0007521 skos:exactMatch OMIM:129905 egasyn semapv:UnspecifiedMatching +MONDO:0007523 skos:exactMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:UnspecifiedMatching +MONDO:0007524 skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular iia semapv:UnspecifiedMatching +MONDO:0007525 skos:exactMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:UnspecifiedMatching +MONDO:0007528 skos:exactMatch OMIM:130090 ehlers-danlos syndrome, autosomal dominant, iia unspecified semapv:UnspecifiedMatching +MONDO:0007529 skos:exactMatch OMIM:130100 elastosis perforans serpiginosa semapv:UnspecifiedMatching +MONDO:0007530 skos:exactMatch OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon semapv:UnspecifiedMatching +MONDO:0007531 skos:exactMatch OMIM:130300 electroencephalographic peculiarity: fronto-precentral beta wave groups semapv:UnspecifiedMatching +MONDO:0007532 skos:exactMatch OMIM:130400 electroencephalographic peculiarity: occipital slow beta waves semapv:UnspecifiedMatching +MONDO:0007533 skos:exactMatch OMIM:130600 elliptocytosis 2 semapv:UnspecifiedMatching +MONDO:0007534 skos:exactMatch OMIM:130650 beckwith-wiedemann syndrome semapv:UnspecifiedMatching +MONDO:0007535 skos:exactMatch OMIM:130700 emphysema, hereditary pulmonary semapv:UnspecifiedMatching +MONDO:0007536 skos:exactMatch OMIM:130710 emphysema, congenital lobar semapv:UnspecifiedMatching +MONDO:0007537 skos:exactMatch OMIM:130720 lateral meningocele syndrome semapv:UnspecifiedMatching +MONDO:0007538 skos:exactMatch OMIM:130900 amelogenesis imperfecta, iia 3a semapv:UnspecifiedMatching +MONDO:0007539 skos:exactMatch OMIM:130950 encephalopathy, recurrent, of childhood semapv:UnspecifiedMatching +MONDO:0007540 skos:exactMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:UnspecifiedMatching +MONDO:0007541 skos:exactMatch OMIM:131200 endometriosis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007542 skos:exactMatch OMIM:131300 camurati-engelmann disease semapv:UnspecifiedMatching +MONDO:0007543 skos:exactMatch OMIM:131375 ENO4 semapv:UnspecifiedMatching +MONDO:0007544 skos:exactMatch OMIM:131400 eosinophilia, familial semapv:UnspecifiedMatching +MONDO:0007545 skos:exactMatch OMIM:131430 eosinophilopenia semapv:UnspecifiedMatching +MONDO:0007546 skos:exactMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:UnspecifiedMatching +MONDO:0007547 skos:exactMatch OMIM:131600 epidermoid cysts semapv:UnspecifiedMatching +MONDO:0007548 skos:exactMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:UnspecifiedMatching +MONDO:0007549 skos:exactMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007550 skos:exactMatch OMIM:131760 epidermolysis bullosa simplex 1a, generalized severe semapv:UnspecifiedMatching +MONDO:0007551 skos:exactMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:UnspecifiedMatching +MONDO:0007552 skos:exactMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:UnspecifiedMatching +MONDO:0007553 skos:exactMatch OMIM:131880 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase semapv:UnspecifiedMatching +MONDO:0007554 skos:exactMatch OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate semapv:UnspecifiedMatching +MONDO:0007555 skos:exactMatch OMIM:131950 epidermolysis bullosa simplex 5a, ogna iia semapv:UnspecifiedMatching +MONDO:0007556 skos:exactMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:UnspecifiedMatching +MONDO:0007557 skos:exactMatch OMIM:132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails semapv:UnspecifiedMatching +MONDO:0007558 skos:exactMatch OMIM:132090 epilepsy, benign occipital semapv:UnspecifiedMatching +MONDO:0007559 skos:exactMatch OMIM:132100 photoparoxysmal response 1 semapv:UnspecifiedMatching +MONDO:0007560 skos:exactMatch OMIM:132300 epilepsy, reading semapv:UnspecifiedMatching +MONDO:0007561 skos:exactMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:UnspecifiedMatching +MONDO:0007562 skos:exactMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:UnspecifiedMatching +MONDO:0007564 skos:exactMatch OMIM:132600 pilomatrixoma semapv:UnspecifiedMatching +MONDO:0007565 skos:exactMatch OMIM:132700 cylindromatosis, familial semapv:UnspecifiedMatching +MONDO:0007566 skos:exactMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:UnspecifiedMatching +MONDO:0007567 skos:exactMatch OMIM:132850 epstein-barr virus insertion site 1 semapv:UnspecifiedMatching +MONDO:0007568 skos:exactMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:UnspecifiedMatching +MONDO:0007569 skos:exactMatch OMIM:132990 erythema nodosum, familial semapv:UnspecifiedMatching +MONDO:0007570 skos:exactMatch OMIM:133000 erythema palmare hereditarium semapv:UnspecifiedMatching +MONDO:0007571 skos:exactMatch OMIM:133020 erythermalgia, primary semapv:UnspecifiedMatching +MONDO:0007572 skos:exactMatch OMIM:133100 erythrocytosis, familial, 1 semapv:UnspecifiedMatching +MONDO:0007573 skos:exactMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:UnspecifiedMatching +MONDO:0007574 skos:exactMatch OMIM:133190 spinocerebellar ataxia 34 semapv:UnspecifiedMatching +MONDO:0007576 skos:exactMatch OMIM:133239 esophageal cancer semapv:UnspecifiedMatching +MONDO:0007577 skos:exactMatch OMIM:133240 esophageal ring, lower semapv:UnspecifiedMatching +MONDO:0007578 skos:exactMatch OMIM:133260 esterase B semapv:UnspecifiedMatching +MONDO:0007579 skos:exactMatch OMIM:133270 esterase c semapv:UnspecifiedMatching +MONDO:0007580 skos:exactMatch OMIM:133300 esterase es-2, regulator for semapv:UnspecifiedMatching +MONDO:0007581 skos:exactMatch OMIM:133500 exchondrosis of pinna, posterior semapv:UnspecifiedMatching +MONDO:0007583 skos:exactMatch OMIM:133600 exostoses of heel semapv:UnspecifiedMatching +MONDO:0007584 skos:exactMatch OMIM:133690 exostoses with anetodermia and brachydactyly, iia e semapv:UnspecifiedMatching +MONDO:0007585 skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:UnspecifiedMatching +MONDO:0007586 skos:exactMatch OMIM:133701 exostoses, multiple, iia 2 semapv:UnspecifiedMatching +MONDO:0007587 skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:UnspecifiedMatching +MONDO:0007588 skos:exactMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:UnspecifiedMatching +MONDO:0007589 skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:UnspecifiedMatching +MONDO:0007590 skos:exactMatch OMIM:133900 hemifacial hyperplasia semapv:UnspecifiedMatching +MONDO:0007591 skos:exactMatch OMIM:134000 facial hypertrichosis semapv:UnspecifiedMatching +MONDO:0007592 skos:exactMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:UnspecifiedMatching +MONDO:0007593 skos:exactMatch OMIM:134300 facial spasm semapv:UnspecifiedMatching +MONDO:0007594 skos:exactMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:UnspecifiedMatching +MONDO:0007595 skos:exactMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:UnspecifiedMatching +MONDO:0007597 skos:exactMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:UnspecifiedMatching +MONDO:0007598 skos:exactMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:UnspecifiedMatching +MONDO:0007599 skos:exactMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:UnspecifiedMatching +MONDO:0007601 skos:exactMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007602 skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching +MONDO:0007603 skos:exactMatch OMIM:134750 felty syndrome semapv:UnspecifiedMatching +MONDO:0007604 skos:exactMatch OMIM:134780 femoral-facial syndrome semapv:UnspecifiedMatching +MONDO:0007605 skos:exactMatch OMIM:134900 fibrinolytic defect semapv:UnspecifiedMatching +MONDO:0007606 skos:exactMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching +MONDO:0007608 skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:UnspecifiedMatching +MONDO:0007609 skos:exactMatch OMIM:135300 fibromatosis, gingival, 1 semapv:UnspecifiedMatching +MONDO:0007610 skos:exactMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:UnspecifiedMatching +MONDO:0007612 skos:exactMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:UnspecifiedMatching +MONDO:0007614 skos:exactMatch omim.ps:135700 Fibrosis of extraocular muscles, congenital semapv:UnspecifiedMatching +MONDO:0007615 skos:exactMatch OMIM:135750 laurin-sandrow syndrome semapv:UnspecifiedMatching +MONDO:0007616 skos:exactMatch OMIM:135800 fibula, recurrent dislocation of head of semapv:UnspecifiedMatching +MONDO:0007617 skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:UnspecifiedMatching +MONDO:0007618 skos:exactMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:UnspecifiedMatching +MONDO:0007619 skos:exactMatch OMIM:136000 adermatoglyphia semapv:UnspecifiedMatching +MONDO:0007620 skos:exactMatch OMIM:136120 fish-eye disease semapv:UnspecifiedMatching +MONDO:0007621 skos:exactMatch OMIM:136140 floating-harbor syndrome semapv:UnspecifiedMatching +MONDO:0007622 skos:exactMatch OMIM:136150 flood factor deficiency semapv:UnspecifiedMatching +MONDO:0007623 skos:exactMatch OMIM:136200 flushing of ears and somnolence semapv:UnspecifiedMatching +MONDO:0007624 skos:exactMatch OMIM:136300 flynn-aird syndrome semapv:UnspecifiedMatching +MONDO:0007625 skos:exactMatch OMIM:136400 focal epithelial hyperplasia of the oral mucosa semapv:UnspecifiedMatching +MONDO:0007626 skos:exactMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:UnspecifiedMatching +MONDO:0007627 skos:exactMatch OMIM:136500 focal facial dermal dysplasia 1, brauer iia semapv:UnspecifiedMatching +MONDO:0007628 skos:exactMatch OMIM:136520 foveal hypoplasia 1 semapv:UnspecifiedMatching +MONDO:0007629 skos:exactMatch OMIM:136540 fragile site 10q23 semapv:UnspecifiedMatching +MONDO:0007630 skos:exactMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:UnspecifiedMatching +MONDO:0007631 skos:exactMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:UnspecifiedMatching +MONDO:0007632 skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching +MONDO:0007633 skos:exactMatch OMIM:136600 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness semapv:UnspecifiedMatching +MONDO:0007634 skos:exactMatch OMIM:136630 intellectual developmental disorder, fra12a iia semapv:UnspecifiedMatching +MONDO:0007635 skos:exactMatch OMIM:136680 frasier syndrome semapv:UnspecifiedMatching +MONDO:0007636 skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:UnspecifiedMatching +MONDO:0007637 skos:exactMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:UnspecifiedMatching +MONDO:0007638 skos:exactMatch OMIM:136830 fucosidase regulator semapv:UnspecifiedMatching +MONDO:0007639 skos:exactMatch OMIM:136880 fundus albipunctatus semapv:UnspecifiedMatching +MONDO:0007640 skos:exactMatch OMIM:136900 sorsby fundus dystrophy semapv:UnspecifiedMatching +MONDO:0007641 skos:exactMatch OMIM:137000 futcher line semapv:UnspecifiedMatching +MONDO:0007642 skos:exactMatch OMIM:137040 gallbladder, agenesis of semapv:UnspecifiedMatching +MONDO:0007643 skos:exactMatch OMIM:137050 gamma-a-globulin, defect 1n assembly of semapv:UnspecifiedMatching +MONDO:0007644 skos:exactMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:UnspecifiedMatching +MONDO:0007645 skos:exactMatch OMIM:137130 gastric sneezing semapv:UnspecifiedMatching +MONDO:0007646 skos:exactMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:UnspecifiedMatching +MONDO:0007647 skos:exactMatch OMIM:137210 gastric volvulus, intrathoracic semapv:UnspecifiedMatching +MONDO:0007649 skos:exactMatch OMIM:137220 gastric juice peptides semapv:UnspecifiedMatching +MONDO:0007650 skos:exactMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:UnspecifiedMatching +MONDO:0007651 skos:exactMatch OMIM:137270 gastrocutaneous syndrome semapv:UnspecifiedMatching +MONDO:0007652 skos:exactMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:UnspecifiedMatching +MONDO:0007653 skos:exactMatch OMIM:137360 genochondromatosis semapv:UnspecifiedMatching +MONDO:0007654 skos:exactMatch OMIM:137370 genu valgum, st. helena familial semapv:UnspecifiedMatching +MONDO:0007655 skos:exactMatch OMIM:137400 geographic and fissured tongue semapv:UnspecifiedMatching +MONDO:0007656 skos:exactMatch OMIM:137440 gerstmann-straussler disease semapv:UnspecifiedMatching +MONDO:0007657 skos:exactMatch OMIM:137500 giant neutrophil leukocytes semapv:UnspecifiedMatching +MONDO:0007659 skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching +MONDO:0007660 skos:exactMatch OMIM:137575 gigantiform cementoma, familial semapv:UnspecifiedMatching +MONDO:0007661 skos:exactMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:UnspecifiedMatching +MONDO:0007662 skos:exactMatch OMIM:137600 anterior segment dysgenesis 4 semapv:UnspecifiedMatching +MONDO:0007663 skos:exactMatch OMIM:137700 glaucoma with elevated episcleral venous pressure semapv:UnspecifiedMatching +MONDO:0007664 skos:exactMatch OMIM:137750 glaucoma 1, open angle, a semapv:UnspecifiedMatching +MONDO:0007665 skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:UnspecifiedMatching +MONDO:0007666 skos:exactMatch OMIM:137763 glaucoma and sleep apnea semapv:UnspecifiedMatching +MONDO:0007668 skos:exactMatch OMIM:137900 globulin anomaly involving beta (2a)-globulin semapv:UnspecifiedMatching +MONDO:0007669 skos:exactMatch OMIM:137920 renal cysts and diabetes syndrome semapv:UnspecifiedMatching +MONDO:0007671 skos:exactMatch omim.ps:137950 Glomerulopathy with fibronectin deposits semapv:UnspecifiedMatching +MONDO:0007672 skos:exactMatch OMIM:138000 glomuvenous malformations semapv:UnspecifiedMatching +MONDO:0007673 skos:exactMatch OMIM:138070 glucoglycinuria semapv:UnspecifiedMatching +MONDO:0007674 skos:exactMatch OMIM:138110 glucose-6-phosphate dehydrogenase-like semapv:UnspecifiedMatching +MONDO:0007675 skos:exactMatch OMIM:138277 glutamic acid decarboxylase, brain, membrane form semapv:UnspecifiedMatching +MONDO:0007676 skos:exactMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:UnspecifiedMatching +MONDO:0007677 skos:exactMatch OMIM:138500 hyperglycinuria semapv:UnspecifiedMatching +MONDO:0007678 skos:exactMatch OMIM:138710 glycoprotein, renal semapv:UnspecifiedMatching +MONDO:0007679 skos:exactMatch OMIM:138770 gms syndrome semapv:UnspecifiedMatching +MONDO:0007680 skos:exactMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:UnspecifiedMatching +MONDO:0007681 skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:UnspecifiedMatching +MONDO:0007682 skos:exactMatch OMIM:138920 granddad syndrome semapv:UnspecifiedMatching +MONDO:0007683 skos:exactMatch OMIM:138930 grant syndrome semapv:UnspecifiedMatching +MONDO:0007685 skos:exactMatch OMIM:139000 granulosis rubra nasi semapv:UnspecifiedMatching +MONDO:0007686 skos:exactMatch OMIM:139090 gray platelet syndrome semapv:UnspecifiedMatching +MONDO:0007687 skos:exactMatch OMIM:139100 graying of hair, precocious semapv:UnspecifiedMatching +MONDO:0007688 skos:exactMatch OMIM:139210 myhre syndrome semapv:UnspecifiedMatching +MONDO:0007689 skos:exactMatch OMIM:139290 guanylate kinase 3 semapv:UnspecifiedMatching +MONDO:0007690 skos:exactMatch OMIM:139300 aromatase excess syndrome semapv:UnspecifiedMatching +MONDO:0007691 skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:UnspecifiedMatching +MONDO:0007692 skos:exactMatch OMIM:139500 hairy ears semapv:UnspecifiedMatching +MONDO:0007693 skos:exactMatch OMIM:139600 hairy elbows semapv:UnspecifiedMatching +MONDO:0007694 skos:exactMatch OMIM:139630 hairy nose tip semapv:UnspecifiedMatching +MONDO:0007695 skos:exactMatch OMIM:139650 hairy palms and soles semapv:UnspecifiedMatching +MONDO:0007696 skos:exactMatch OMIM:139750 hand and foot deformity with flat facies semapv:UnspecifiedMatching +MONDO:0007697 skos:exactMatch OMIM:139800 hand clasping pattern semapv:UnspecifiedMatching +MONDO:0007698 skos:exactMatch OMIM:140000 hand-foot-genital syndrome semapv:UnspecifiedMatching +MONDO:0007699 skos:exactMatch OMIM:140300 hashimoto thyroiditis semapv:UnspecifiedMatching +MONDO:0007700 skos:exactMatch OMIM:140350 hawkinsinuria semapv:UnspecifiedMatching +MONDO:0007701 skos:exactMatch OMIM:140400 progressive familial heart block, iia 2 semapv:UnspecifiedMatching +MONDO:0007702 skos:exactMatch OMIM:140450 heart-hand syndrome, spanish iia semapv:UnspecifiedMatching +MONDO:0007704 skos:exactMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:UnspecifiedMatching +MONDO:0007705 skos:exactMatch OMIM:140700 heinz body anemias semapv:UnspecifiedMatching +MONDO:0007706 skos:exactMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:UnspecifiedMatching +MONDO:0007707 skos:exactMatch OMIM:140900 hemangiomas of small intestine semapv:UnspecifiedMatching +MONDO:0007708 skos:exactMatch OMIM:141000 hemangioma-thrombocytopenia syndrome semapv:UnspecifiedMatching +MONDO:0007709 skos:exactMatch OMIM:141200 hematuria, benign familial, 1 semapv:UnspecifiedMatching +MONDO:0007710 skos:exactMatch OMIM:141300 hemifacial atrophy, progressive semapv:UnspecifiedMatching +MONDO:0007711 skos:exactMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:UnspecifiedMatching +MONDO:0007712 skos:exactMatch OMIM:141400 hemifacial microsomia with radial defects semapv:UnspecifiedMatching +MONDO:0007713 skos:exactMatch OMIM:141405 hemifacial spasm, familial semapv:UnspecifiedMatching +MONDO:0007715 skos:exactMatch OMIM:141700 hemolytic poikilocytic anemia due to reduced ankyrin binding sites semapv:UnspecifiedMatching +MONDO:0007716 skos:exactMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:UnspecifiedMatching +MONDO:0007717 skos:exactMatch OMIM:142309 hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain semapv:UnspecifiedMatching +MONDO:0007718 skos:exactMatch OMIM:142330 hepatic adenomas, familial semapv:UnspecifiedMatching +MONDO:0007719 skos:exactMatch OMIM:142340 diaphragmatic hernia, congenital semapv:UnspecifiedMatching +MONDO:0007720 skos:exactMatch OMIM:142350 hernia, double inguinal semapv:UnspecifiedMatching +MONDO:0007721 skos:exactMatch OMIM:142400 hernia, hiatus semapv:UnspecifiedMatching +MONDO:0007722 skos:exactMatch OMIM:142500 heterochromia iridis semapv:UnspecifiedMatching +MONDO:0007723 skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007724 skos:exactMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:UnspecifiedMatching +MONDO:0007725 skos:exactMatch OMIM:142630 histiocytosis, progressive mucinous semapv:UnspecifiedMatching +MONDO:0007726 skos:exactMatch OMIM:142669 beukes hip dysplasia semapv:UnspecifiedMatching +MONDO:0007727 skos:exactMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007728 skos:exactMatch OMIM:142690 acne inversa, familial, 1 semapv:UnspecifiedMatching +MONDO:0007729 skos:exactMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:UnspecifiedMatching +MONDO:0007730 skos:exactMatch OMIM:142730 histiocytic dermatoarthritis semapv:UnspecifiedMatching +MONDO:0007731 skos:exactMatch OMIM:142770 hla modifier semapv:UnspecifiedMatching +MONDO:0007732 skos:exactMatch OMIM:142900 holt-oram syndrome semapv:UnspecifiedMatching +MONDO:0007733 skos:exactMatch OMIM:142945 holoprosencephaly 3 semapv:UnspecifiedMatching +MONDO:0007734 skos:exactMatch OMIM:142946 holoprosencephaly 4 semapv:UnspecifiedMatching +MONDO:0007735 skos:exactMatch OMIM:143000 horner syndrome, congenital semapv:UnspecifiedMatching +MONDO:0007736 skos:exactMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:UnspecifiedMatching +MONDO:0007737 skos:exactMatch OMIM:143050 humeroradial synostosis semapv:UnspecifiedMatching +MONDO:0007738 skos:exactMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:UnspecifiedMatching +MONDO:0007739 skos:exactMatch OMIM:143100 huntington disease semapv:UnspecifiedMatching +MONDO:0007740 skos:exactMatch OMIM:143200 wagner vitreoretinopathy semapv:UnspecifiedMatching +MONDO:0007742 skos:exactMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:UnspecifiedMatching +MONDO:0007744 skos:exactMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:UnspecifiedMatching +MONDO:0007745 skos:exactMatch OMIM:143500 gilbert syndrome semapv:UnspecifiedMatching +MONDO:0007746 skos:exactMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:UnspecifiedMatching +MONDO:0007747 skos:exactMatch OMIM:143860 hyperchlorhidrosis, isolated semapv:UnspecifiedMatching +MONDO:0007748 skos:exactMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:UnspecifiedMatching +MONDO:0007750 skos:exactMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:UnspecifiedMatching +MONDO:0007751 skos:exactMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:UnspecifiedMatching +MONDO:0007752 skos:exactMatch OMIM:144050 hyperheparinemia semapv:UnspecifiedMatching +MONDO:0007753 skos:exactMatch OMIM:144100 hyperhidrosis, gustatory semapv:UnspecifiedMatching +MONDO:0007754 skos:exactMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:UnspecifiedMatching +MONDO:0007755 skos:exactMatch OMIM:144120 hyperimmunoglobulin g1(a1) syndrome semapv:UnspecifiedMatching +MONDO:0007756 skos:exactMatch OMIM:144150 hyperkeratosis lenticularis perstans semapv:UnspecifiedMatching +MONDO:0007757 skos:exactMatch OMIM:144190 hyperkeratosis-hyperpigmentation syndrome semapv:UnspecifiedMatching +MONDO:0007758 skos:exactMatch OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 semapv:UnspecifiedMatching +MONDO:0007759 skos:exactMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:UnspecifiedMatching +MONDO:0007760 skos:exactMatch OMIM:144300 hyperlipoproteinemia, iia ii, and deafness semapv:UnspecifiedMatching +MONDO:0007761 skos:exactMatch OMIM:144600 hyperlipoproteinemia, iia 4 semapv:UnspecifiedMatching +MONDO:0007762 skos:exactMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:UnspecifiedMatching +MONDO:0007763 skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:UnspecifiedMatching +MONDO:0007764 skos:exactMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007765 skos:exactMatch OMIM:144755 hyperostosis cranialis interna semapv:UnspecifiedMatching +MONDO:0007766 skos:exactMatch OMIM:144800 hyperostosis frontalis interna semapv:UnspecifiedMatching +MONDO:0007767 skos:exactMatch OMIM:145000 hyperparathyroidism 1 semapv:UnspecifiedMatching +MONDO:0007768 skos:exactMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:UnspecifiedMatching +MONDO:0007769 skos:exactMatch OMIM:145100 hyperpigmentation of eyelids semapv:UnspecifiedMatching +MONDO:0007770 skos:exactMatch OMIM:145200 hyperpigmentation of fuldauer and kuijpers semapv:UnspecifiedMatching +MONDO:0007771 skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:UnspecifiedMatching +MONDO:0007772 skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:UnspecifiedMatching +MONDO:0007773 skos:exactMatch OMIM:145270 hyperproglucagonemia semapv:UnspecifiedMatching +MONDO:0007774 skos:exactMatch OMIM:145290 hyperreflexia semapv:UnspecifiedMatching +MONDO:0007775 skos:exactMatch OMIM:145295 hypersecretion of adrenal androgens, familial semapv:UnspecifiedMatching +MONDO:0007776 skos:exactMatch OMIM:145300 hypersensitivity pneumonitis, familial semapv:UnspecifiedMatching +MONDO:0007777 skos:exactMatch OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy semapv:UnspecifiedMatching +MONDO:0007778 skos:exactMatch OMIM:145400 hypertelorism semapv:UnspecifiedMatching +MONDO:0007779 skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching +MONDO:0007781 skos:exactMatch OMIM:145500 hypertension, essential semapv:UnspecifiedMatching +MONDO:0007782 skos:exactMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:UnspecifiedMatching +MONDO:0007783 skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007784 skos:exactMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:UnspecifiedMatching +MONDO:0007785 skos:exactMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:UnspecifiedMatching +MONDO:0007787 skos:exactMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:UnspecifiedMatching +MONDO:0007788 skos:exactMatch OMIM:145750 hypertriglyceridemia 1 semapv:UnspecifiedMatching +MONDO:0007789 skos:exactMatch OMIM:145800 hypertrophia musculorum vera semapv:UnspecifiedMatching +MONDO:0007790 skos:exactMatch OMIM:145900 hypertrophic neuropathy of dejerine-sottas semapv:UnspecifiedMatching +MONDO:0007791 skos:exactMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:UnspecifiedMatching +MONDO:0007792 skos:exactMatch OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 semapv:UnspecifiedMatching +MONDO:0007793 skos:exactMatch OMIM:146000 hypochondroplasia semapv:UnspecifiedMatching +MONDO:0007794 skos:exactMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:UnspecifiedMatching +MONDO:0007795 skos:exactMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:UnspecifiedMatching +MONDO:0007796 skos:exactMatch OMIM:146200 hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching +MONDO:0007797 skos:exactMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0007798 skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:UnspecifiedMatching +MONDO:0007799 skos:exactMatch OMIM:146350 hypophosphatemic bone disease semapv:UnspecifiedMatching +MONDO:0007800 skos:exactMatch OMIM:146390 chromosome 18p deletion syndrome semapv:UnspecifiedMatching +MONDO:0007801 skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching +MONDO:0007802 skos:exactMatch OMIM:146450 hypospadias 3, autosomal semapv:UnspecifiedMatching +MONDO:0007804 skos:exactMatch OMIM:146510 pallister-hall syndrome semapv:UnspecifiedMatching +MONDO:0007805 skos:exactMatch OMIM:146520 hypotrichosis 2 semapv:UnspecifiedMatching +MONDO:0007807 skos:exactMatch OMIM:146580 hypoxanthine guanine phosphoribosyltransferase suppressor semapv:UnspecifiedMatching +MONDO:0007808 skos:exactMatch OMIM:146590 ichthyosis hystrix, curth-macklin iia semapv:UnspecifiedMatching +MONDO:0007809 skos:exactMatch OMIM:146600 ichthyosis hystrix, lambert iia semapv:UnspecifiedMatching +MONDO:0007810 skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:UnspecifiedMatching +MONDO:0007811 skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:UnspecifiedMatching +MONDO:0007812 skos:exactMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007813 skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:UnspecifiedMatching +MONDO:0007814 skos:exactMatch OMIM:146830 immune deficiency, familial variable semapv:UnspecifiedMatching +MONDO:0007816 skos:exactMatch OMIM:146850 immune suppression semapv:UnspecifiedMatching +MONDO:0007817 skos:exactMatch OMIM:147050 ige responsiveness, atopic semapv:UnspecifiedMatching +MONDO:0007818 skos:exactMatch OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching +MONDO:0007819 skos:exactMatch OMIM:147250 solitary median maxillary central incisor semapv:UnspecifiedMatching +MONDO:0007820 skos:exactMatch OMIM:147251 incisors, fused mandibular semapv:UnspecifiedMatching +MONDO:0007821 skos:exactMatch OMIM:147260 immunoglobulin switch sequences semapv:UnspecifiedMatching +MONDO:0007822 skos:exactMatch OMIM:147300 incisors, long upper central semapv:UnspecifiedMatching +MONDO:0007823 skos:exactMatch OMIM:147320 insulin receptors, familial increase 1n semapv:UnspecifiedMatching +MONDO:0007824 skos:exactMatch OMIM:147330 incisors, lower central, absence of semapv:UnspecifiedMatching +MONDO:0007825 skos:exactMatch OMIM:147350 incisors, rotation of upper central semapv:UnspecifiedMatching +MONDO:0007826 skos:exactMatch OMIM:147400 incisors, shovel-shaped semapv:UnspecifiedMatching +MONDO:0007827 skos:exactMatch OMIM:147421 inclusion body myositis semapv:UnspecifiedMatching +MONDO:0007828 skos:exactMatch OMIM:147430 marsili syndrome semapv:UnspecifiedMatching +MONDO:0007829 skos:exactMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:UnspecifiedMatching +MONDO:0007830 skos:exactMatch OMIM:147530 insensitivity to pain with hyperplastic myelinopathy semapv:UnspecifiedMatching +MONDO:0007831 skos:exactMatch OMIM:147540 insect stings, hypersensitivity to semapv:UnspecifiedMatching +MONDO:0007832 skos:exactMatch OMIM:147560 interferon antiviral depressor semapv:UnspecifiedMatching +MONDO:0007833 skos:exactMatch OMIM:147610 iris pigment layer, cleavage of semapv:UnspecifiedMatching +MONDO:0007834 skos:exactMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:UnspecifiedMatching +MONDO:0007835 skos:exactMatch OMIM:147710 intussusception semapv:UnspecifiedMatching +MONDO:0007836 skos:exactMatch OMIM:147750 ivic syndrome semapv:UnspecifiedMatching +MONDO:0007837 skos:exactMatch OMIM:147770 johnson neuroectodermal syndrome semapv:UnspecifiedMatching +MONDO:0007838 skos:exactMatch OMIM:147791 jacobsen syndrome semapv:UnspecifiedMatching +MONDO:0007839 skos:exactMatch OMIM:147800 aase-smith syndrome 1 semapv:UnspecifiedMatching +MONDO:0007840 skos:exactMatch OMIM:147820 internal carotid artery, spontaneous dissection of semapv:UnspecifiedMatching +MONDO:0007841 skos:exactMatch OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension semapv:UnspecifiedMatching +MONDO:0007842 skos:exactMatch OMIM:147900 joint laxity, familial semapv:UnspecifiedMatching +MONDO:0007843 skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:UnspecifiedMatching +MONDO:0007844 skos:exactMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:UnspecifiedMatching +MONDO:0007845 skos:exactMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:UnspecifiedMatching +MONDO:0007846 skos:exactMatch OMIM:148050 kbg syndrome semapv:UnspecifiedMatching +MONDO:0007847 skos:exactMatch OMIM:148100 keloid formation semapv:UnspecifiedMatching +MONDO:0007848 skos:exactMatch OMIM:148190 keratitis, hereditary semapv:UnspecifiedMatching +MONDO:0007849 skos:exactMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:UnspecifiedMatching +MONDO:0007850 skos:exactMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007851 skos:exactMatch OMIM:148300 keratoconus 1 semapv:UnspecifiedMatching +MONDO:0007852 skos:exactMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:UnspecifiedMatching +MONDO:0007853 skos:exactMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:UnspecifiedMatching +MONDO:0007854 skos:exactMatch OMIM:148370 keratolytic winter erythema semapv:UnspecifiedMatching +MONDO:0007855 skos:exactMatch OMIM:148390 keratosis, familial actinic semapv:UnspecifiedMatching +MONDO:0007856 skos:exactMatch OMIM:148500 tylosis with esophageal cancer semapv:UnspecifiedMatching +MONDO:0007857 skos:exactMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:UnspecifiedMatching +MONDO:0007858 skos:exactMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:UnspecifiedMatching +MONDO:0007859 skos:exactMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:UnspecifiedMatching +MONDO:0007860 skos:exactMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:UnspecifiedMatching +MONDO:0007861 skos:exactMatch OMIM:148800 kleeblattschaedel semapv:UnspecifiedMatching +MONDO:0007862 skos:exactMatch OMIM:148820 waardenburg syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0007863 skos:exactMatch OMIM:148840 kleine-levin hibernation syndrome semapv:UnspecifiedMatching +MONDO:0007864 skos:exactMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:UnspecifiedMatching +MONDO:0007865 skos:exactMatch OMIM:149100 knuckle pads semapv:UnspecifiedMatching +MONDO:0007866 skos:exactMatch OMIM:149200 bart-pumphrey syndrome semapv:UnspecifiedMatching +MONDO:0007867 skos:exactMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:UnspecifiedMatching +MONDO:0007868 skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:UnspecifiedMatching +MONDO:0007869 skos:exactMatch OMIM:149500 kyrle disease semapv:UnspecifiedMatching +MONDO:0007870 skos:exactMatch OMIM:149600 labia minora, incomplete adhesion of semapv:UnspecifiedMatching +MONDO:0007871 skos:exactMatch OMIM:149700 lacrimal duct defect semapv:UnspecifiedMatching +MONDO:0007872 skos:exactMatch omim.ps:149730 Lacrimoauriculodentodigital syndrome semapv:UnspecifiedMatching +MONDO:0007873 skos:exactMatch OMIM:150170 lactic acidosis, chronic adult form semapv:UnspecifiedMatching +MONDO:0007874 skos:exactMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0007875 skos:exactMatch OMIM:150250 larsen syndrome semapv:UnspecifiedMatching +MONDO:0007876 skos:exactMatch OMIM:150260 laryngeal abductor paralysis semapv:UnspecifiedMatching +MONDO:0007877 skos:exactMatch OMIM:150270 laryngeal adductor paralysis semapv:UnspecifiedMatching +MONDO:0007878 skos:exactMatch OMIM:150280 laryngomalacia semapv:UnspecifiedMatching +MONDO:0007879 skos:exactMatch OMIM:150300 larynx, congenital partial atresia of semapv:UnspecifiedMatching +MONDO:0007880 skos:exactMatch OMIM:150360 laryngeal web, familial semapv:UnspecifiedMatching +MONDO:0007881 skos:exactMatch OMIM:150400 tooth agenesis, selective, 4 semapv:UnspecifiedMatching +MONDO:0007882 skos:exactMatch OMIM:150500 lattice degeneration of retina leading to retinal detachment semapv:UnspecifiedMatching +MONDO:0007883 skos:exactMatch OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:UnspecifiedMatching +MONDO:0007884 skos:exactMatch OMIM:150590 leg ulcers, familial, of juvenile onset semapv:UnspecifiedMatching +MONDO:0007885 skos:exactMatch OMIM:150600 legg-calve-perthes disease semapv:UnspecifiedMatching +MONDO:0007886 skos:exactMatch OMIM:150699 leiomyoma, uterine semapv:UnspecifiedMatching +MONDO:0007887 skos:exactMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:UnspecifiedMatching +MONDO:0007888 skos:exactMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:UnspecifiedMatching +MONDO:0007890 skos:exactMatch OMIM:151000 lentiginosis, centrofacial neurodysraphic semapv:UnspecifiedMatching +MONDO:0007891 skos:exactMatch OMIM:151001 lentiginosis, inherited patterned semapv:UnspecifiedMatching +MONDO:0007892 skos:exactMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:UnspecifiedMatching +MONDO:0007893 skos:exactMatch omim.ps:151100 LEOPARD syndrome semapv:UnspecifiedMatching +MONDO:0007894 skos:exactMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:UnspecifiedMatching +MONDO:0007895 skos:exactMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:UnspecifiedMatching +MONDO:0007896 skos:exactMatch OMIM:151380 leukemia, acute monocytic semapv:UnspecifiedMatching +MONDO:0007898 skos:exactMatch OMIM:151500 leukocyte nuclear appendages, hereditary prevalence of semapv:UnspecifiedMatching +MONDO:0007899 skos:exactMatch OMIM:151590 lichen sclerosus et atrophicus semapv:UnspecifiedMatching +MONDO:0007900 skos:exactMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:UnspecifiedMatching +MONDO:0007901 skos:exactMatch OMIM:151610 oculomotor-levator synkinesis semapv:UnspecifiedMatching +MONDO:0007902 skos:exactMatch OMIM:151620 lichen planus, familial semapv:UnspecifiedMatching +MONDO:0007904 skos:exactMatch OMIM:151630 lip, median nodule of upper semapv:UnspecifiedMatching +MONDO:0007905 skos:exactMatch OMIM:151640 lip, hamartomatous semapv:UnspecifiedMatching +MONDO:0007906 skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:UnspecifiedMatching +MONDO:0007907 skos:exactMatch OMIM:151700 lipoma of the conjunctiva semapv:UnspecifiedMatching +MONDO:0007908 skos:exactMatch OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0007909 skos:exactMatch OMIM:151900 lipomatosis, familial multiple semapv:UnspecifiedMatching +MONDO:0007910 skos:exactMatch OMIM:152300 lipoprotein types--lt system semapv:UnspecifiedMatching +MONDO:0007911 skos:exactMatch OMIM:152400 lipoprotein, variant of beta semapv:UnspecifiedMatching +MONDO:0007912 skos:exactMatch OMIM:152420 lithium transport semapv:UnspecifiedMatching +MONDO:0007913 skos:exactMatch OMIM:152450 low density lipoprotein, variation 1n molecular weight of semapv:UnspecifiedMatching +MONDO:0007914 skos:exactMatch OMIM:152550 lumbar stenosis, familial semapv:UnspecifiedMatching +MONDO:0007915 skos:exactMatch OMIM:152700 systemic lupus erythematosus semapv:UnspecifiedMatching +MONDO:0007916 skos:exactMatch OMIM:152800 lymphangiectasia, intestinal semapv:UnspecifiedMatching +MONDO:0007917 skos:exactMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:UnspecifiedMatching +MONDO:0007918 skos:exactMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:UnspecifiedMatching +MONDO:0007919 skos:exactMatch OMIM:153100 lymphatic malformation 1 semapv:UnspecifiedMatching +MONDO:0007920 skos:exactMatch OMIM:153200 lymphatic malformation 5 semapv:UnspecifiedMatching +MONDO:0007921 skos:exactMatch OMIM:153300 yellow nail syndrome semapv:UnspecifiedMatching +MONDO:0007922 skos:exactMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:UnspecifiedMatching +MONDO:0007923 skos:exactMatch OMIM:153470 macrocephaly, benign familial semapv:UnspecifiedMatching +MONDO:0007925 skos:exactMatch OMIM:153550 chromosome 5q deletion syndrome semapv:UnspecifiedMatching +MONDO:0007927 skos:exactMatch OMIM:153630 macroglossia semapv:UnspecifiedMatching +MONDO:0007930 skos:exactMatch OMIM:153670 bernard-soulier syndrome, iia a2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007931 skos:exactMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:UnspecifiedMatching +MONDO:0007932 skos:exactMatch OMIM:153800 macular degeneration, age-related, 2 semapv:UnspecifiedMatching +MONDO:0007933 skos:exactMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:UnspecifiedMatching +MONDO:0007934 skos:exactMatch OMIM:153870 retinitis pigmentosa 91 semapv:UnspecifiedMatching +MONDO:0007935 skos:exactMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:UnspecifiedMatching +MONDO:0007936 skos:exactMatch OMIM:153890 macular dystrophy, fenestrated sheen iia semapv:UnspecifiedMatching +MONDO:0007937 skos:exactMatch OMIM:154020 hypomagnesemia 2, renal semapv:UnspecifiedMatching +MONDO:0007938 skos:exactMatch OMIM:154230 46,xy sex reversal 4 semapv:UnspecifiedMatching +MONDO:0007939 skos:exactMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0007940 skos:exactMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0007941 skos:exactMatch OMIM:154300 malocclusion due to protuberant upper front teeth semapv:UnspecifiedMatching +MONDO:0007942 skos:exactMatch OMIM:154370 mammastatin semapv:UnspecifiedMatching +MONDO:0007943 skos:exactMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:UnspecifiedMatching +MONDO:0007944 skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:UnspecifiedMatching +MONDO:0007945 skos:exactMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese iia semapv:UnspecifiedMatching +MONDO:0007946 skos:exactMatch OMIM:154600 marcus gunn phenomenon semapv:UnspecifiedMatching +MONDO:0007947 skos:exactMatch OMIM:154700 marfan syndrome semapv:UnspecifiedMatching +MONDO:0007948 skos:exactMatch OMIM:154750 marfanoid hypermobility syndrome semapv:UnspecifiedMatching +MONDO:0007949 skos:exactMatch OMIM:154780 marshall syndrome semapv:UnspecifiedMatching +MONDO:0007951 skos:exactMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:UnspecifiedMatching +MONDO:0007952 skos:exactMatch OMIM:155000 maxillofacial dysostosis semapv:UnspecifiedMatching +MONDO:0007953 skos:exactMatch OMIM:155050 maxillonasal dysplasia, binder iia semapv:UnspecifiedMatching +MONDO:0007955 skos:exactMatch OMIM:155140 meckel diverticulum semapv:UnspecifiedMatching +MONDO:0007956 skos:exactMatch OMIM:155145 cleft, median, of upper 51p with polyps of facial skin and nasal mucosa semapv:UnspecifiedMatching +MONDO:0007957 skos:exactMatch OMIM:155200 mediosternal depigmentation line semapv:UnspecifiedMatching +MONDO:0007958 skos:exactMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:UnspecifiedMatching +MONDO:0007959 skos:exactMatch OMIM:155255 medulloblastoma semapv:UnspecifiedMatching +MONDO:0007961 skos:exactMatch OMIM:155350 megalencephaly, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007962 skos:exactMatch OMIM:155500 macrodactyly semapv:UnspecifiedMatching +MONDO:0007963 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0007964 skos:exactMatch OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0007965 skos:exactMatch OMIM:155700 melanoma, malignant familial intraocular semapv:UnspecifiedMatching +MONDO:0007967 skos:exactMatch OMIM:155755 melanoma-astrocytoma syndrome semapv:UnspecifiedMatching +MONDO:0007968 skos:exactMatch OMIM:155770 melanoma tumor antigen gp90 semapv:UnspecifiedMatching +MONDO:0007969 skos:exactMatch OMIM:155900 melkersson-rosenthal syndrome semapv:UnspecifiedMatching +MONDO:0007970 skos:exactMatch OMIM:155950 melorheostosis, isolated semapv:UnspecifiedMatching +MONDO:0007971 skos:exactMatch OMIM:155980 membranous cranial ossification, delayed semapv:UnspecifiedMatching +MONDO:0007972 skos:exactMatch OMIM:156000 meniere disease semapv:UnspecifiedMatching +MONDO:0007973 skos:exactMatch OMIM:156190 mental and growth retardation with amblyopia semapv:UnspecifiedMatching +MONDO:0007974 skos:exactMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0007975 skos:exactMatch OMIM:156220 meralgia paraesthetica, familial semapv:UnspecifiedMatching +MONDO:0007976 skos:exactMatch OMIM:156230 mesomelic dwarfism of hypoplastic tibia and radius iia semapv:UnspecifiedMatching +MONDO:0007977 skos:exactMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:UnspecifiedMatching +MONDO:0007979 skos:exactMatch OMIM:156250 metachondromatosis semapv:UnspecifiedMatching +MONDO:0007980 skos:exactMatch OMIM:156300 metachromasia of fibroblasts semapv:UnspecifiedMatching +MONDO:0007981 skos:exactMatch OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a semapv:UnspecifiedMatching +MONDO:0007982 skos:exactMatch OMIM:156400 metaphyseal chondrodysplasia, jansen iia semapv:UnspecifiedMatching +MONDO:0007983 skos:exactMatch OMIM:156500 metaphyseal chondrodysplasia, schmid iia semapv:UnspecifiedMatching +MONDO:0007984 skos:exactMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:UnspecifiedMatching +MONDO:0007985 skos:exactMatch OMIM:156520 metatarsus varus, iia 1 semapv:UnspecifiedMatching +MONDO:0007986 skos:exactMatch OMIM:156530 metatropic dysplasia semapv:UnspecifiedMatching +MONDO:0007987 skos:exactMatch OMIM:156550 kniest dysplasia semapv:UnspecifiedMatching +MONDO:0007988 skos:exactMatch OMIM:156580 microcephaly, autosomal dominant semapv:UnspecifiedMatching +MONDO:0007989 skos:exactMatch OMIM:156600 microcoria, congenital semapv:UnspecifiedMatching +MONDO:0007991 skos:exactMatch OMIM:156620 microcephaly-deafness syndrome semapv:UnspecifiedMatching +MONDO:0007992 skos:exactMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:UnspecifiedMatching +MONDO:0007993 skos:exactMatch OMIM:156810 microgastria-limb reduction defects association semapv:UnspecifiedMatching +MONDO:0007994 skos:exactMatch OMIM:156830 micromelic bone dysplasia with cloverleaf skull semapv:UnspecifiedMatching +MONDO:0007995 skos:exactMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:UnspecifiedMatching +MONDO:0007996 skos:exactMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:UnspecifiedMatching +MONDO:0007997 skos:exactMatch OMIM:157150 microspherophakia with hernia semapv:UnspecifiedMatching +MONDO:0007998 skos:exactMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0007999 skos:exactMatch OMIM:157170 holoprosencephaly 2 semapv:UnspecifiedMatching +MONDO:0008000 skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0008001 skos:exactMatch OMIM:157400 milia, multiple eruptive semapv:UnspecifiedMatching +MONDO:0008002 skos:exactMatch OMIM:157600 mirror movements 1 semapv:UnspecifiedMatching +MONDO:0008004 skos:exactMatch omim.ps:157700 Mitral valve prolapse, myxomatous semapv:UnspecifiedMatching +MONDO:0008005 skos:exactMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:UnspecifiedMatching +MONDO:0008006 skos:exactMatch OMIM:157900 moebius syndrome semapv:UnspecifiedMatching +MONDO:0008007 skos:exactMatch OMIM:157950 permanent molars, secondary retention of semapv:UnspecifiedMatching +MONDO:0008008 skos:exactMatch OMIM:157980 momo syndrome semapv:UnspecifiedMatching +MONDO:0008009 skos:exactMatch OMIM:158000 monilethrix semapv:UnspecifiedMatching +MONDO:0008010 skos:exactMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:UnspecifiedMatching +MONDO:0008011 skos:exactMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:UnspecifiedMatching +MONDO:0008012 skos:exactMatch OMIM:158100 monophalangy of great toe semapv:UnspecifiedMatching +MONDO:0008013 skos:exactMatch OMIM:158170 chromosome 9p deletion syndrome semapv:UnspecifiedMatching +MONDO:0008014 skos:exactMatch OMIM:158250 nondisjunction semapv:UnspecifiedMatching +MONDO:0008015 skos:exactMatch OMIM:158280 motion sickness semapv:UnspecifiedMatching +MONDO:0008016 skos:exactMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:UnspecifiedMatching +MONDO:0008017 skos:exactMatch OMIM:158310 mucoepithelial dysplasia, hereditary semapv:UnspecifiedMatching +MONDO:0008018 skos:exactMatch OMIM:158320 muir-torre syndrome semapv:UnspecifiedMatching +MONDO:0008019 skos:exactMatch OMIM:158330 mullerian aplasia and hyperandrogenism semapv:UnspecifiedMatching +MONDO:0008020 skos:exactMatch OMIM:158345 multiple exostoses with spastic tetraparesis semapv:UnspecifiedMatching +MONDO:0008021 skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:UnspecifiedMatching +MONDO:0008022 skos:exactMatch OMIM:158400 muscle cramps, familial semapv:UnspecifiedMatching +MONDO:0008023 skos:exactMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:UnspecifiedMatching +MONDO:0008024 skos:exactMatch OMIM:158580 neuronopathy, distal hereditary motor, autosomal dominant 7 semapv:UnspecifiedMatching +MONDO:0008025 skos:exactMatch OMIM:158590 neuronopathy, distal hereditary motor, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0008026 skos:exactMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008027 skos:exactMatch OMIM:158650 muscular atrophy, malignant neurogenic semapv:UnspecifiedMatching +MONDO:0008028 skos:exactMatch OMIM:158800 muscular dystrophy, barnes iia semapv:UnspecifiedMatching +MONDO:0008029 skos:exactMatch omim.ps:158810 Bethlem myopathy semapv:UnspecifiedMatching +MONDO:0008030 skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:UnspecifiedMatching +MONDO:0008031 skos:exactMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:UnspecifiedMatching +MONDO:0008034 skos:exactMatch OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:UnspecifiedMatching +MONDO:0008035 skos:exactMatch OMIM:159100 muscular hypoplasia, congenital universal, of krabbe semapv:UnspecifiedMatching +MONDO:0008036 skos:exactMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:UnspecifiedMatching +MONDO:0008037 skos:exactMatch OMIM:159500 myelinated optic nerve fibers semapv:UnspecifiedMatching +MONDO:0008038 skos:exactMatch OMIM:159550 ataxia-pancytopenia syndrome semapv:UnspecifiedMatching +MONDO:0008039 skos:exactMatch OMIM:159580 myelopathy, htlv-1-associated semapv:UnspecifiedMatching +MONDO:0008040 skos:exactMatch OMIM:159595 myeloproliferative syndrome, transient semapv:UnspecifiedMatching +MONDO:0008041 skos:exactMatch OMIM:159600 myoclonic epilepsy, hartung iia semapv:UnspecifiedMatching +MONDO:0008043 skos:exactMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:UnspecifiedMatching +MONDO:0008044 skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:UnspecifiedMatching +MONDO:0008045 skos:exactMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:UnspecifiedMatching +MONDO:0008046 skos:exactMatch OMIM:160010 myoglobinuria, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008047 skos:exactMatch OMIM:160120 episodic ataxia, iia 1 semapv:UnspecifiedMatching +MONDO:0008048 skos:exactMatch OMIM:160150 myopathy, centronuclear, 1 semapv:UnspecifiedMatching +MONDO:0008049 skos:exactMatch OMIM:160300 myopathy, distal, infantile-onset semapv:UnspecifiedMatching +MONDO:0008050 skos:exactMatch OMIM:160500 myopathy, distal, 1 semapv:UnspecifiedMatching +MONDO:0008051 skos:exactMatch omim.ps:160565 Myopathy, tubular aggregate semapv:UnspecifiedMatching +MONDO:0008052 skos:exactMatch OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans semapv:UnspecifiedMatching +MONDO:0008053 skos:exactMatch OMIM:160700 myopia 2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008055 skos:exactMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008056 skos:exactMatch OMIM:160900 myotonic dystrophy 1 semapv:UnspecifiedMatching +MONDO:0008057 skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:UnspecifiedMatching +MONDO:0008058 skos:exactMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:UnspecifiedMatching +MONDO:0008059 skos:exactMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:UnspecifiedMatching +MONDO:0008060 skos:exactMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:UnspecifiedMatching +MONDO:0008061 skos:exactMatch OMIM:161200 nail-patella syndrome semapv:UnspecifiedMatching +MONDO:0008062 skos:exactMatch OMIM:161400 narcolepsy 1 semapv:UnspecifiedMatching +MONDO:0008063 skos:exactMatch OMIM:161470 nasal alar collapse, bilateral semapv:UnspecifiedMatching +MONDO:0008064 skos:exactMatch OMIM:161480 nasal bones, absence of semapv:UnspecifiedMatching +MONDO:0008065 skos:exactMatch OMIM:161500 nasal groove, familial transverse semapv:UnspecifiedMatching +MONDO:0008066 skos:exactMatch OMIM:161530 nasal hyperpigmentation, familial transverse semapv:UnspecifiedMatching +MONDO:0008067 skos:exactMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0008068 skos:exactMatch OMIM:161600 navicular bone, accessory semapv:UnspecifiedMatching +MONDO:0008069 skos:exactMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:UnspecifiedMatching +MONDO:0008070 skos:exactMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008071 skos:exactMatch OMIM:161900 renal failure, progressive, with hypertension semapv:UnspecifiedMatching +MONDO:0008072 skos:exactMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0008073 skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:UnspecifiedMatching +MONDO:0008074 skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching +MONDO:0008075 skos:exactMatch omim.ps:162091 Schwannomatosis semapv:UnspecifiedMatching +MONDO:0008076 skos:exactMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:UnspecifiedMatching +MONDO:0008078 skos:exactMatch OMIM:162210 neurofibromatosis, familial spinal semapv:UnspecifiedMatching +MONDO:0008079 skos:exactMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:UnspecifiedMatching +MONDO:0008080 skos:exactMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:UnspecifiedMatching +MONDO:0008081 skos:exactMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:UnspecifiedMatching +MONDO:0008082 skos:exactMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:UnspecifiedMatching +MONDO:0008083 skos:exactMatch OMIM:162350 ceroid lipofuscinosis, neuronal, 4 (kufs type) semapv:UnspecifiedMatching +MONDO:0008084 skos:exactMatch OMIM:162370 neuropathy, congenital, with arthrogryposis multiplex semapv:UnspecifiedMatching +MONDO:0008085 skos:exactMatch OMIM:162380 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance semapv:UnspecifiedMatching +MONDO:0008086 skos:exactMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:UnspecifiedMatching +MONDO:0008087 skos:exactMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:UnspecifiedMatching +MONDO:0008088 skos:exactMatch OMIM:162600 neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine semapv:UnspecifiedMatching +MONDO:0008089 skos:exactMatch OMIM:162700 neutropenia, chronic familial semapv:UnspecifiedMatching +MONDO:0008090 skos:exactMatch OMIM:162800 cyclic neutropenia semapv:UnspecifiedMatching +MONDO:0008091 skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching +MONDO:0008092 skos:exactMatch OMIM:162830 neutrophilia, hereditary semapv:UnspecifiedMatching +MONDO:0008093 skos:exactMatch OMIM:162900 nevus, epidermal semapv:UnspecifiedMatching +MONDO:0008094 skos:exactMatch OMIM:163000 capillary malformations, congenital semapv:UnspecifiedMatching +MONDO:0008095 skos:exactMatch OMIM:163050 nevus anemicus semapv:UnspecifiedMatching +MONDO:0008096 skos:exactMatch OMIM:163100 nevus flammeus of nape of neck semapv:UnspecifiedMatching +MONDO:0008097 skos:exactMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:UnspecifiedMatching +MONDO:0008098 skos:exactMatch OMIM:163400 nievergelt syndrome semapv:UnspecifiedMatching +MONDO:0008099 skos:exactMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0008100 skos:exactMatch OMIM:163600 nipples inverted semapv:UnspecifiedMatching +MONDO:0008101 skos:exactMatch OMIM:163700 nipples, supernumerary semapv:UnspecifiedMatching +MONDO:0008102 skos:exactMatch OMIM:163800 sick sinus syndrome 2 semapv:UnspecifiedMatching +MONDO:0008103 skos:exactMatch OMIM:163850 noduli cutanei, multiple, with urinary tract abnormalities semapv:UnspecifiedMatching +MONDO:0008104 skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:UnspecifiedMatching +MONDO:0008105 skos:exactMatch OMIM:164000 nose, anomalous shape of semapv:UnspecifiedMatching +MONDO:0008106 skos:exactMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008107 skos:exactMatch OMIM:164150 nystagmus, hereditary vertical semapv:UnspecifiedMatching +MONDO:0008108 skos:exactMatch OMIM:164180 oculocerebrocutaneous syndrome semapv:UnspecifiedMatching +MONDO:0008109 skos:exactMatch OMIM:164185 ocular cicatricial pemphigoid semapv:UnspecifiedMatching +MONDO:0008110 skos:exactMatch OMIM:164190 ocular dominance semapv:UnspecifiedMatching +MONDO:0008111 skos:exactMatch OMIM:164200 oculodentodigital dysplasia semapv:UnspecifiedMatching +MONDO:0008113 skos:exactMatch OMIM:164220 schilbach-rott syndrome semapv:UnspecifiedMatching +MONDO:0008114 skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:UnspecifiedMatching +MONDO:0008115 skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:UnspecifiedMatching +MONDO:0008116 skos:exactMatch omim.ps:164300 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching +MONDO:0008118 skos:exactMatch OMIM:164330 odontoma-dysphagia syndrome semapv:UnspecifiedMatching +MONDO:0008119 skos:exactMatch OMIM:164400 spinocerebellar ataxia 1 semapv:UnspecifiedMatching +MONDO:0008121 skos:exactMatch OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair semapv:UnspecifiedMatching +MONDO:0008123 skos:exactMatch OMIM:164745 omodysplasia 2 semapv:UnspecifiedMatching +MONDO:0008124 skos:exactMatch OMIM:164750 omphalocele, autosomal semapv:UnspecifiedMatching +MONDO:0008125 skos:exactMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:UnspecifiedMatching +MONDO:0008126 skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching +MONDO:0008127 skos:exactMatch OMIM:164900 ophthalmomandibulomelic dysplasia semapv:UnspecifiedMatching +MONDO:0008128 skos:exactMatch OMIM:165000 ophthalmoplegia, familial static semapv:UnspecifiedMatching +MONDO:0008129 skos:exactMatch OMIM:165098 ophthalmoplegia, familial total, with iris transillumination semapv:UnspecifiedMatching +MONDO:0008130 skos:exactMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:UnspecifiedMatching +MONDO:0008131 skos:exactMatch OMIM:165199 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008132 skos:exactMatch OMIM:165200 optic atrophy with demyelinating disease of cns semapv:UnspecifiedMatching +MONDO:0008133 skos:exactMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008134 skos:exactMatch OMIM:165500 optic atrophy 1 semapv:UnspecifiedMatching +MONDO:0008135 skos:exactMatch OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities semapv:UnspecifiedMatching +MONDO:0008136 skos:exactMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:UnspecifiedMatching +MONDO:0008137 skos:exactMatch OMIM:165590 orofaciodigital syndrome 10 semapv:UnspecifiedMatching +MONDO:0008138 skos:exactMatch OMIM:165600 orbital margin, hypoplasia of semapv:UnspecifiedMatching +MONDO:0008139 skos:exactMatch OMIM:165660 oslam syndrome semapv:UnspecifiedMatching +MONDO:0008140 skos:exactMatch OMIM:165670 ossified ear cartilages semapv:UnspecifiedMatching +MONDO:0008141 skos:exactMatch OMIM:165680 ossicular malformations, familial semapv:UnspecifiedMatching +MONDO:0008142 skos:exactMatch OMIM:165700 thiemann disease semapv:UnspecifiedMatching +MONDO:0008143 skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:UnspecifiedMatching +MONDO:0008145 skos:exactMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:UnspecifiedMatching +MONDO:0008146 skos:exactMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:UnspecifiedMatching +MONDO:0008147 skos:exactMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:UnspecifiedMatching +MONDO:0008148 skos:exactMatch OMIM:166220 osteogenesis imperfecta, iia 4 semapv:UnspecifiedMatching +MONDO:0008149 skos:exactMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:UnspecifiedMatching +MONDO:0008150 skos:exactMatch OMIM:166250 osteoglophonic dysplasia semapv:UnspecifiedMatching +MONDO:0008151 skos:exactMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0008152 skos:exactMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:UnspecifiedMatching +MONDO:0008153 skos:exactMatch OMIM:166350 osseous heteroplasia, progressive semapv:UnspecifiedMatching +MONDO:0008154 skos:exactMatch OMIM:166400 osteomas of mandible semapv:UnspecifiedMatching +MONDO:0008155 skos:exactMatch OMIM:166450 osteomesopyknosis semapv:UnspecifiedMatching +MONDO:0008156 skos:exactMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0008157 skos:exactMatch OMIM:166700 buschke-ollendorff syndrome semapv:UnspecifiedMatching +MONDO:0008158 skos:exactMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:UnspecifiedMatching +MONDO:0008160 skos:exactMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:UnspecifiedMatching +MONDO:0008161 skos:exactMatch OMIM:166750 otodental dysplasia semapv:UnspecifiedMatching +MONDO:0008162 skos:exactMatch OMIM:166760 otitis media, susceptibility to semapv:UnspecifiedMatching +MONDO:0008163 skos:exactMatch omim.ps:166780 Otofaciocervical syndrome semapv:UnspecifiedMatching +MONDO:0008164 skos:exactMatch OMIM:166800 otosclerosis 1 semapv:UnspecifiedMatching +MONDO:0008165 skos:exactMatch OMIM:166900 ovalocytosis, southeast asian semapv:UnspecifiedMatching +MONDO:0008166 skos:exactMatch OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis semapv:UnspecifiedMatching +MONDO:0008167 skos:exactMatch OMIM:166950 teratoma, ovarian semapv:UnspecifiedMatching +MONDO:0008168 skos:exactMatch OMIM:166970 ovarian fibromata semapv:UnspecifiedMatching +MONDO:0008169 skos:exactMatch OMIM:166990 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension semapv:UnspecifiedMatching +MONDO:0008170 skos:exactMatch OMIM:167000 ovarian cancer semapv:UnspecifiedMatching +MONDO:0008172 skos:exactMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008173 skos:exactMatch OMIM:167200 pachyonychia congenita 1 semapv:UnspecifiedMatching +MONDO:0008174 skos:exactMatch OMIM:167210 pachyonychia congenita 2 semapv:UnspecifiedMatching +MONDO:0008175 skos:exactMatch OMIM:167220 pacman dysplasia semapv:UnspecifiedMatching +MONDO:0008176 skos:exactMatch OMIM:167250 paget disease of bone 3 semapv:UnspecifiedMatching +MONDO:0008177 skos:exactMatch OMIM:167300 paget disease, extramammary semapv:UnspecifiedMatching +MONDO:0008178 skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:UnspecifiedMatching +MONDO:0008179 skos:exactMatch OMIM:167400 paroxysmal extreme pain disorder semapv:UnspecifiedMatching +MONDO:0008180 skos:exactMatch OMIM:167500 palatopharyngeal incompetence semapv:UnspecifiedMatching +MONDO:0008181 skos:exactMatch OMIM:167600 palmaris longus muscle, absence of semapv:UnspecifiedMatching +MONDO:0008182 skos:exactMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:UnspecifiedMatching +MONDO:0008183 skos:exactMatch OMIM:167750 pancreas, annular semapv:UnspecifiedMatching +MONDO:0008184 skos:exactMatch OMIM:167755 pancreas, dorsal, agenesis of semapv:UnspecifiedMatching +MONDO:0008185 skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:UnspecifiedMatching +MONDO:0008186 skos:exactMatch OMIM:167850 pancytopenia and occlusive vascular disease semapv:UnspecifiedMatching +MONDO:0008187 skos:exactMatch OMIM:167870 panic disorder 1 semapv:UnspecifiedMatching +MONDO:0008188 skos:exactMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:UnspecifiedMatching +MONDO:0008189 skos:exactMatch OMIM:167950 papillomatosis, florid, of nipple semapv:UnspecifiedMatching +MONDO:0008190 skos:exactMatch OMIM:167959 human papillomavirus iia 18 integration site 1 semapv:UnspecifiedMatching +MONDO:0008191 skos:exactMatch OMIM:167960 human papillomavirus iia 18 integration site 2 semapv:UnspecifiedMatching +MONDO:0008192 skos:exactMatch OMIM:168000 pheochromocytoma/paraganglioma syndrome 1 semapv:UnspecifiedMatching +MONDO:0008193 skos:exactMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:UnspecifiedMatching +MONDO:0008194 skos:exactMatch OMIM:168200 paramolar tubercle of bolk semapv:UnspecifiedMatching +MONDO:0008195 skos:exactMatch OMIM:168300 paramyotonia congenita semapv:UnspecifiedMatching +MONDO:0008196 skos:exactMatch OMIM:168400 parastremmatic dwarfism semapv:UnspecifiedMatching +MONDO:0008197 skos:exactMatch OMIM:168500 parietal foramina 1 semapv:UnspecifiedMatching +MONDO:0008198 skos:exactMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:UnspecifiedMatching +MONDO:0008199 skos:exactMatch OMIM:168600 parkinson disease, late-onset semapv:UnspecifiedMatching +MONDO:0008200 skos:exactMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008201 skos:exactMatch OMIM:168605 perry syndrome semapv:UnspecifiedMatching +MONDO:0008202 skos:exactMatch OMIM:168800 parotidomegaly, hereditary bilateral semapv:UnspecifiedMatching +MONDO:0008203 skos:exactMatch OMIM:168830 passovoy factor defect semapv:UnspecifiedMatching +MONDO:0008204 skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching +MONDO:0008205 skos:exactMatch OMIM:168860 patella aplasia-hypoplasia semapv:UnspecifiedMatching +MONDO:0008206 skos:exactMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:UnspecifiedMatching +MONDO:0008207 skos:exactMatch OMIM:168900 patella, chondromalacia of semapv:UnspecifiedMatching +MONDO:0008208 skos:exactMatch OMIM:169000 patella, familial recurrent dislocation of semapv:UnspecifiedMatching +MONDO:0008209 skos:exactMatch OMIM:169100 char syndrome semapv:UnspecifiedMatching +MONDO:0008210 skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:UnspecifiedMatching +MONDO:0008211 skos:exactMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:UnspecifiedMatching +MONDO:0008212 skos:exactMatch OMIM:169200 pechet factor deficiency semapv:UnspecifiedMatching +MONDO:0008213 skos:exactMatch OMIM:169300 pectus excavatum semapv:UnspecifiedMatching +MONDO:0008214 skos:exactMatch OMIM:169400 pelger-huet anomaly semapv:UnspecifiedMatching +MONDO:0008215 skos:exactMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008216 skos:exactMatch OMIM:169545 pelvic lipomatosis with crossed renal ectopia semapv:UnspecifiedMatching +MONDO:0008217 skos:exactMatch OMIM:169550 pelvis-shoulder dysplasia semapv:UnspecifiedMatching +MONDO:0008218 skos:exactMatch OMIM:169600 hailey-hailey disease semapv:UnspecifiedMatching +MONDO:0008219 skos:exactMatch OMIM:169610 pemphigus vulgaris, familial semapv:UnspecifiedMatching +MONDO:0008220 skos:exactMatch OMIM:169710 pepsinogen 3, group 1 semapv:UnspecifiedMatching +MONDO:0008221 skos:exactMatch OMIM:170100 prolidase deficiency semapv:UnspecifiedMatching +MONDO:0008222 skos:exactMatch OMIM:170390 andersen cardiodysrhythmic periodic paralysis semapv:UnspecifiedMatching +MONDO:0008224 skos:exactMatch OMIM:170500 hyperkalemic periodic paralysis semapv:UnspecifiedMatching +MONDO:0008225 skos:exactMatch OMIM:170600 normokalemic periodic paralysis semapv:UnspecifiedMatching +MONDO:0008226 skos:exactMatch OMIM:170650 periodontitis, aggressive, 1 semapv:UnspecifiedMatching +MONDO:0008227 skos:exactMatch OMIM:170700 peripheral dysostosis semapv:UnspecifiedMatching +MONDO:0008228 skos:exactMatch OMIM:170900 pernicious anemia semapv:UnspecifiedMatching +MONDO:0008229 skos:exactMatch OMIM:170980 peroneal nerve, accessory deep semapv:UnspecifiedMatching +MONDO:0008230 skos:exactMatch OMIM:170990 peroxidase, salivary semapv:UnspecifiedMatching +MONDO:0008231 skos:exactMatch OMIM:171000 peyronie disease semapv:UnspecifiedMatching +MONDO:0008232 skos:exactMatch OMIM:171100 phagocytosis, plasma-related defect 1n semapv:UnspecifiedMatching +MONDO:0008233 skos:exactMatch OMIM:171300 pheochromocytoma semapv:UnspecifiedMatching +MONDO:0008234 skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:UnspecifiedMatching +MONDO:0008235 skos:exactMatch OMIM:171420 pheochromocytoma--islet cell tumor syndrome semapv:UnspecifiedMatching +MONDO:0008236 skos:exactMatch OMIM:171450 phlebectasia of lips semapv:UnspecifiedMatching +MONDO:0008237 skos:exactMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:UnspecifiedMatching +MONDO:0008238 skos:exactMatch OMIM:171660 phosphatase, acid, of tissues semapv:UnspecifiedMatching +MONDO:0008239 skos:exactMatch OMIM:172110 phosphoglucomutase 4 semapv:UnspecifiedMatching +MONDO:0008240 skos:exactMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:UnspecifiedMatching +MONDO:0008241 skos:exactMatch OMIM:172290 phosphoglycoprotein 1 semapv:UnspecifiedMatching +MONDO:0008242 skos:exactMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:UnspecifiedMatching +MONDO:0008243 skos:exactMatch OMIM:172700 pick disease of brain semapv:UnspecifiedMatching +MONDO:0008244 skos:exactMatch OMIM:172800 piebald trait semapv:UnspecifiedMatching +MONDO:0008245 skos:exactMatch OMIM:172850 piebald trait with neurologic defects semapv:UnspecifiedMatching +MONDO:0008246 skos:exactMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:UnspecifiedMatching +MONDO:0008247 skos:exactMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:UnspecifiedMatching +MONDO:0008248 skos:exactMatch OMIM:172900 pigmented purpuric eruption semapv:UnspecifiedMatching +MONDO:0008249 skos:exactMatch OMIM:173000 pilonidal sinus semapv:UnspecifiedMatching +MONDO:0008250 skos:exactMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:UnspecifiedMatching +MONDO:0008251 skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:UnspecifiedMatching +MONDO:0008252 skos:exactMatch OMIM:173395 platelet adenylate cyclase activity semapv:UnspecifiedMatching +MONDO:0008253 skos:exactMatch OMIM:173400 platelet aggregation, spontaneous semapv:UnspecifiedMatching +MONDO:0008254 skos:exactMatch OMIM:173420 platelet disorder, undefined semapv:UnspecifiedMatching +MONDO:0008255 skos:exactMatch OMIM:173450 platelet factor 3 deficiency semapv:UnspecifiedMatching +MONDO:0008256 skos:exactMatch OMIM:173560 platelet membrane fluidity semapv:UnspecifiedMatching +MONDO:0008257 skos:exactMatch OMIM:173580 platelet responsiveness to adrenaline, depressed semapv:UnspecifiedMatching +MONDO:0008258 skos:exactMatch OMIM:173590 platelet signal processing defect semapv:UnspecifiedMatching +MONDO:0008259 skos:exactMatch OMIM:173600 pneumothorax, primary spontaneous semapv:UnspecifiedMatching +MONDO:0008260 skos:exactMatch OMIM:173650 kindler syndrome semapv:UnspecifiedMatching +MONDO:0008261 skos:exactMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:UnspecifiedMatching +MONDO:0008262 skos:exactMatch OMIM:173800 poland syndrome semapv:UnspecifiedMatching +MONDO:0008263 skos:exactMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:UnspecifiedMatching +MONDO:0008265 skos:exactMatch OMIM:174050 polycystic liver disease 1 with or without kidney cysts semapv:UnspecifiedMatching +MONDO:0008266 skos:exactMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:UnspecifiedMatching +MONDO:0008267 skos:exactMatch OMIM:174300 orofaciodigital syndrome 5 semapv:UnspecifiedMatching +MONDO:0008268 skos:exactMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:UnspecifiedMatching +MONDO:0008269 skos:exactMatch OMIM:174400 polydactyly, preaxial 1 semapv:UnspecifiedMatching +MONDO:0008270 skos:exactMatch OMIM:174500 polydactyly, preaxial 2 semapv:UnspecifiedMatching +MONDO:0008271 skos:exactMatch OMIM:174600 polydactyly, preaxial 3 semapv:UnspecifiedMatching +MONDO:0008272 skos:exactMatch OMIM:174700 polydactyly, preaxial 4 semapv:UnspecifiedMatching +MONDO:0008273 skos:exactMatch OMIM:174770 actinic prurigo semapv:UnspecifiedMatching +MONDO:0008275 skos:exactMatch OMIM:174810 familial expansile osteolysis semapv:UnspecifiedMatching +MONDO:0008278 skos:exactMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:UnspecifiedMatching +MONDO:0008280 skos:exactMatch OMIM:175200 peutz-jeghers syndrome semapv:UnspecifiedMatching +MONDO:0008281 skos:exactMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:UnspecifiedMatching +MONDO:0008282 skos:exactMatch OMIM:175450 polyposis, intestinal, with multiple exostoses semapv:UnspecifiedMatching +MONDO:0008283 skos:exactMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:UnspecifiedMatching +MONDO:0008285 skos:exactMatch OMIM:175510 gist-plus syndrome semapv:UnspecifiedMatching +MONDO:0008286 skos:exactMatch OMIM:175690 polysyndactyly, crossed semapv:UnspecifiedMatching +MONDO:0008287 skos:exactMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching +MONDO:0008288 skos:exactMatch OMIM:175750 popliteal cyst semapv:UnspecifiedMatching +MONDO:0008289 skos:exactMatch OMIM:175780 brain small vessel disease 1 with or without ocular anomalies semapv:UnspecifiedMatching +MONDO:0008290 skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:UnspecifiedMatching +MONDO:0008291 skos:exactMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:UnspecifiedMatching +MONDO:0008292 skos:exactMatch OMIM:175860 palmoplantar keratoderma, punctate iia 2 semapv:UnspecifiedMatching +MONDO:0008293 skos:exactMatch OMIM:175900 porokeratosis 3, multiple types semapv:UnspecifiedMatching +MONDO:0008294 skos:exactMatch OMIM:176000 porphyria, acute intermittent semapv:UnspecifiedMatching +MONDO:0008295 skos:exactMatch OMIM:176090 porphyria cutanea tarda, iia 1 semapv:UnspecifiedMatching +MONDO:0008296 skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:UnspecifiedMatching +MONDO:0008297 skos:exactMatch OMIM:176200 variegate porphyria semapv:UnspecifiedMatching +MONDO:0008298 skos:exactMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:UnspecifiedMatching +MONDO:0008299 skos:exactMatch OMIM:176250 posterior column ataxia semapv:UnspecifiedMatching +MONDO:0008300 skos:exactMatch OMIM:176270 prader-willi syndrome semapv:UnspecifiedMatching +MONDO:0008301 skos:exactMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:UnspecifiedMatching +MONDO:0008302 skos:exactMatch OMIM:176400 precocious puberty, central, 1 semapv:UnspecifiedMatching +MONDO:0008303 skos:exactMatch OMIM:176410 precocious puberty, male-limited semapv:UnspecifiedMatching +MONDO:0008304 skos:exactMatch OMIM:176430 premature chromatid separation trait semapv:UnspecifiedMatching +MONDO:0008305 skos:exactMatch OMIM:176450 currarino syndrome semapv:UnspecifiedMatching +MONDO:0008306 skos:exactMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:UnspecifiedMatching +MONDO:0008307 skos:exactMatch OMIM:176600 presenile dementia, kraepelin iia semapv:UnspecifiedMatching +MONDO:0008308 skos:exactMatch OMIM:176620 priapism, familial idiopathic semapv:UnspecifiedMatching +MONDO:0008309 skos:exactMatch OMIM:176630 primary release disorder of platelets semapv:UnspecifiedMatching +MONDO:0008310 skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:UnspecifiedMatching +MONDO:0008311 skos:exactMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:UnspecifiedMatching +MONDO:0008312 skos:exactMatch OMIM:176700 prognathism, mandibular semapv:UnspecifiedMatching +MONDO:0008313 skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:UnspecifiedMatching +MONDO:0008314 skos:exactMatch OMIM:176800 pronation-supination of the forearm, impairment of semapv:UnspecifiedMatching +MONDO:0008316 skos:exactMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008317 skos:exactMatch OMIM:176900 proteolytic capacity of plasma semapv:UnspecifiedMatching +MONDO:0008318 skos:exactMatch OMIM:176920 proteus syndrome semapv:UnspecifiedMatching +MONDO:0008319 skos:exactMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:UnspecifiedMatching +MONDO:0008320 skos:exactMatch OMIM:177050 protrusio acetabuli semapv:UnspecifiedMatching +MONDO:0008321 skos:exactMatch OMIM:177100 pruritus, hereditary localized semapv:UnspecifiedMatching +MONDO:0008322 skos:exactMatch OMIM:177170 pseudoachondroplasia semapv:UnspecifiedMatching +MONDO:0008323 skos:exactMatch omim.ps:177200 Liddle syndrome semapv:UnspecifiedMatching +MONDO:0008324 skos:exactMatch OMIM:177300 pseudoarthrogryposis semapv:UnspecifiedMatching +MONDO:0008325 skos:exactMatch OMIM:177350 pseudoatrophoderma colli semapv:UnspecifiedMatching +MONDO:0008326 skos:exactMatch OMIM:177600 pseudocholinesterase, increase 1n plasma level of semapv:UnspecifiedMatching +MONDO:0008328 skos:exactMatch OMIM:177700 glaucoma 1, open angle, p semapv:UnspecifiedMatching +MONDO:0008329 skos:exactMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008330 skos:exactMatch OMIM:177750 pseudomonilethrix semapv:UnspecifiedMatching +MONDO:0008331 skos:exactMatch OMIM:177800 pseudopapilledema semapv:UnspecifiedMatching +MONDO:0008332 skos:exactMatch OMIM:177820 von willebrand disease, platelet-type semapv:UnspecifiedMatching +MONDO:0008333 skos:exactMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:UnspecifiedMatching +MONDO:0008334 skos:exactMatch OMIM:177900 psoriasis 1, susceptibility to semapv:UnspecifiedMatching +MONDO:0008335 skos:exactMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:UnspecifiedMatching +MONDO:0008336 skos:exactMatch OMIM:177990 pterygium colli, isolated semapv:UnspecifiedMatching +MONDO:0008337 skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:UnspecifiedMatching +MONDO:0008338 skos:exactMatch OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a semapv:UnspecifiedMatching +MONDO:0008339 skos:exactMatch OMIM:178200 pterygium, antecubital semapv:UnspecifiedMatching +MONDO:0008340 skos:exactMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:UnspecifiedMatching +MONDO:0008341 skos:exactMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:UnspecifiedMatching +MONDO:0008342 skos:exactMatch OMIM:178350 pubic bone dysplasia semapv:UnspecifiedMatching +MONDO:0008343 skos:exactMatch OMIM:178370 pulmonary atresia with ventricular septal defect semapv:UnspecifiedMatching +MONDO:0008344 skos:exactMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:UnspecifiedMatching +MONDO:0008346 skos:exactMatch OMIM:178550 pulmonary hemosiderosis semapv:UnspecifiedMatching +MONDO:0008348 skos:exactMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:UnspecifiedMatching +MONDO:0008349 skos:exactMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:UnspecifiedMatching +MONDO:0008350 skos:exactMatch OMIM:178651 pulmonic stenosis and deafness semapv:UnspecifiedMatching +MONDO:0008351 skos:exactMatch OMIM:178800 pupil, egg-shaped semapv:UnspecifiedMatching +MONDO:0008352 skos:exactMatch OMIM:178900 pupillary membrane, persistence of semapv:UnspecifiedMatching +MONDO:0008353 skos:exactMatch OMIM:178995 pruritic urticarial papules and plaques of pregnancy semapv:UnspecifiedMatching +MONDO:0008354 skos:exactMatch OMIM:179000 purpura simplex semapv:UnspecifiedMatching +MONDO:0008355 skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:UnspecifiedMatching +MONDO:0008356 skos:exactMatch OMIM:179200 radial heads, posterior dislocation of semapv:UnspecifiedMatching +MONDO:0008357 skos:exactMatch OMIM:179250 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema semapv:UnspecifiedMatching +MONDO:0008358 skos:exactMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:UnspecifiedMatching +MONDO:0008359 skos:exactMatch OMIM:179280 radial-renal syndrome semapv:UnspecifiedMatching +MONDO:0008361 skos:exactMatch OMIM:179400 radius, aplasia of, with cleft lip/palate semapv:UnspecifiedMatching +MONDO:0008362 skos:exactMatch OMIM:179450 ragweed sensitivity semapv:UnspecifiedMatching +MONDO:0008363 skos:exactMatch OMIM:179500 raindrop hypopigmentation semapv:UnspecifiedMatching +MONDO:0008364 skos:exactMatch OMIM:179600 raynaud disease semapv:UnspecifiedMatching +MONDO:0008365 skos:exactMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:UnspecifiedMatching +MONDO:0008366 skos:exactMatch OMIM:179650 red cell permeability defect semapv:UnspecifiedMatching +MONDO:0008367 skos:exactMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:UnspecifiedMatching +MONDO:0008368 skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:UnspecifiedMatching +MONDO:0008369 skos:exactMatch OMIM:179830 renal tubular acidosis, proximal semapv:UnspecifiedMatching +MONDO:0008372 skos:exactMatch OMIM:179900 retinal aplasia semapv:UnspecifiedMatching +MONDO:0008373 skos:exactMatch OMIM:180000 retinal arteries, tortuosity of semapv:UnspecifiedMatching +MONDO:0008374 skos:exactMatch OMIM:180020 retinal cone dystrophy 1 semapv:UnspecifiedMatching +MONDO:0008375 skos:exactMatch OMIM:180050 retinal detachment semapv:UnspecifiedMatching +MONDO:0008376 skos:exactMatch OMIM:180080 retinal venous beading semapv:UnspecifiedMatching +MONDO:0008377 skos:exactMatch OMIM:180100 retinitis pigmentosa 1 semapv:UnspecifiedMatching +MONDO:0008378 skos:exactMatch OMIM:180104 retinitis pigmentosa 9 semapv:UnspecifiedMatching +MONDO:0008379 skos:exactMatch OMIM:180105 retinitis pigmentosa 10 semapv:UnspecifiedMatching +MONDO:0008381 skos:exactMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:UnspecifiedMatching +MONDO:0008382 skos:exactMatch OMIM:180270 retinoschisis, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008383 skos:exactMatch OMIM:180300 rheumatoid arthritis semapv:UnspecifiedMatching +MONDO:0008384 skos:exactMatch OMIM:180350 rheumatoid nodulosis semapv:UnspecifiedMatching +MONDO:0008385 skos:exactMatch OMIM:180360 rhiny semapv:UnspecifiedMatching +MONDO:0008386 skos:exactMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0008387 skos:exactMatch OMIM:180550 ring dermoid of cornea semapv:UnspecifiedMatching +MONDO:0008388 skos:exactMatch OMIM:180600 ringed hair semapv:UnspecifiedMatching +MONDO:0008390 skos:exactMatch OMIM:180730 rombo syndrome semapv:UnspecifiedMatching +MONDO:0008391 skos:exactMatch OMIM:180750 robinow-sorauf syndrome semapv:UnspecifiedMatching +MONDO:0008392 skos:exactMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:UnspecifiedMatching +MONDO:0008393 skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:UnspecifiedMatching +MONDO:0008394 skos:exactMatch omim.ps:180860 Silver-Russell syndrome semapv:UnspecifiedMatching +MONDO:0008395 skos:exactMatch OMIM:180870 ruvalcaba syndrome semapv:UnspecifiedMatching +MONDO:0008396 skos:exactMatch OMIM:180900 rutherfurd syndrome semapv:UnspecifiedMatching +MONDO:0008397 skos:exactMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching +MONDO:0008398 skos:exactMatch OMIM:180950 salivary substance, clostridium botulinum iia semapv:UnspecifiedMatching +MONDO:0008399 skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0008400 skos:exactMatch OMIM:181010 salivary duct calculi semapv:UnspecifiedMatching +MONDO:0008401 skos:exactMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:UnspecifiedMatching +MONDO:0008402 skos:exactMatch OMIM:181180 say syndrome semapv:UnspecifiedMatching +MONDO:0008403 skos:exactMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:UnspecifiedMatching +MONDO:0008404 skos:exactMatch OMIM:181270 scalp-ear-nipple syndrome semapv:UnspecifiedMatching +MONDO:0008405 skos:exactMatch OMIM:181300 scapula, contour of vertebral border of semapv:UnspecifiedMatching +MONDO:0008407 skos:exactMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:UnspecifiedMatching +MONDO:0008408 skos:exactMatch OMIM:181405 scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching +MONDO:0008409 skos:exactMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008410 skos:exactMatch OMIM:181440 scheuermann disease semapv:UnspecifiedMatching +MONDO:0008411 skos:exactMatch OMIM:181450 ulnar-mammary syndrome semapv:UnspecifiedMatching +MONDO:0008414 skos:exactMatch OMIM:181510 schizophrenia 1 semapv:UnspecifiedMatching +MONDO:0008415 skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching +MONDO:0008416 skos:exactMatch OMIM:181600 huriez syndrome semapv:UnspecifiedMatching +MONDO:0008417 skos:exactMatch OMIM:181700 sclerocornea, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008418 skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:UnspecifiedMatching +MONDO:0008419 skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0008420 skos:exactMatch OMIM:182000 keratosis, seborrheic semapv:UnspecifiedMatching +MONDO:0008421 skos:exactMatch OMIM:182150 simosa craniofacial syndrome semapv:UnspecifiedMatching +MONDO:0008422 skos:exactMatch OMIM:182170 anemia, sideroblastic, 4 semapv:UnspecifiedMatching +MONDO:0008423 skos:exactMatch OMIM:182190 sinus node disease and myopia semapv:UnspecifiedMatching +MONDO:0008424 skos:exactMatch OMIM:182200 sella turcica, bridged semapv:UnspecifiedMatching +MONDO:0008425 skos:exactMatch OMIM:182210 shprintzen omphalocele syndrome semapv:UnspecifiedMatching +MONDO:0008426 skos:exactMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:UnspecifiedMatching +MONDO:0008427 skos:exactMatch OMIM:182220 sister chromatid exchange, frequency of semapv:UnspecifiedMatching +MONDO:0008428 skos:exactMatch OMIM:182230 septooptic dysplasia semapv:UnspecifiedMatching +MONDO:0008429 skos:exactMatch omim.ps:182250 Singleton-Merten syndrome semapv:UnspecifiedMatching +MONDO:0008430 skos:exactMatch OMIM:182255 skeletal dysplasia with delayed epiphyseal and carpal bone ossification semapv:UnspecifiedMatching +MONDO:0008431 skos:exactMatch OMIM:182260 slipped femoral capital epiphyses semapv:UnspecifiedMatching +MONDO:0008432 skos:exactMatch OMIM:182270 ketone compounds, ability to smell semapv:UnspecifiedMatching +MONDO:0008433 skos:exactMatch OMIM:182280 small cell cancer of the lung semapv:UnspecifiedMatching +MONDO:0008434 skos:exactMatch OMIM:182290 smith-magenis syndrome semapv:UnspecifiedMatching +MONDO:0008435 skos:exactMatch OMIM:182400 somatomedin, embryonic semapv:UnspecifiedMatching +MONDO:0008436 skos:exactMatch OMIM:182410 sneddon syndrome semapv:UnspecifiedMatching +MONDO:0008437 skos:exactMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008438 skos:exactMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008439 skos:exactMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:UnspecifiedMatching +MONDO:0008440 skos:exactMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:UnspecifiedMatching +MONDO:0008441 skos:exactMatch OMIM:182800 spastic paraplegia with associated extrapyramidal signs semapv:UnspecifiedMatching +MONDO:0008442 skos:exactMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:UnspecifiedMatching +MONDO:0008443 skos:exactMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:UnspecifiedMatching +MONDO:0008444 skos:exactMatch OMIM:182830 spastic paraplegia, optic atrophy, and dementia semapv:UnspecifiedMatching +MONDO:0008445 skos:exactMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:UnspecifiedMatching +MONDO:0008446 skos:exactMatch OMIM:182882 sperm protamine p4 semapv:UnspecifiedMatching +MONDO:0008447 skos:exactMatch OMIM:182900 spherocytosis, iia 1 semapv:UnspecifiedMatching +MONDO:0008450 skos:exactMatch OMIM:182950 spinal arachnoiditis semapv:UnspecifiedMatching +MONDO:0008451 skos:exactMatch OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0008452 skos:exactMatch OMIM:182970 spinal muscular atrophy, facioscapulohumeral iia semapv:UnspecifiedMatching +MONDO:0008453 skos:exactMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel iia semapv:UnspecifiedMatching +MONDO:0008454 skos:exactMatch OMIM:182990 spinal intradural arachnoid cysts semapv:UnspecifiedMatching +MONDO:0008455 skos:exactMatch OMIM:183020 spinal muscular atrophy, segmental semapv:UnspecifiedMatching +MONDO:0008456 skos:exactMatch OMIM:183050 spinocerebellar ataxia with rigidity and peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0008457 skos:exactMatch OMIM:183086 spinocerebellar ataxia 6 semapv:UnspecifiedMatching +MONDO:0008458 skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:UnspecifiedMatching +MONDO:0008459 skos:exactMatch OMIM:183100 spinocerebellar atrophy with pupillary paralysis semapv:UnspecifiedMatching +MONDO:0008460 skos:exactMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:UnspecifiedMatching +MONDO:0008461 skos:exactMatch OMIM:183350 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells semapv:UnspecifiedMatching +MONDO:0008462 skos:exactMatch OMIM:183400 split lower 51p semapv:UnspecifiedMatching +MONDO:0008463 skos:exactMatch OMIM:183500 split-hand and split-foot with hypodontia semapv:UnspecifiedMatching +MONDO:0008464 skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:UnspecifiedMatching +MONDO:0008465 skos:exactMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:UnspecifiedMatching +MONDO:0008466 skos:exactMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:UnspecifiedMatching +MONDO:0008467 skos:exactMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:UnspecifiedMatching +MONDO:0008468 skos:exactMatch OMIM:183840 spondyloarthropathy, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0008469 skos:exactMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:UnspecifiedMatching +MONDO:0008470 skos:exactMatch OMIM:183850 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:UnspecifiedMatching +MONDO:0008471 skos:exactMatch OMIM:183900 spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching +MONDO:0008472 skos:exactMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:UnspecifiedMatching +MONDO:0008473 skos:exactMatch OMIM:184095 spondyloepiphyseal dysplasia, maroteaux iia semapv:UnspecifiedMatching +MONDO:0008474 skos:exactMatch OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008475 skos:exactMatch OMIM:184200 spondylolisthesis semapv:UnspecifiedMatching +MONDO:0008476 skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:UnspecifiedMatching +MONDO:0008477 skos:exactMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski iia semapv:UnspecifiedMatching +MONDO:0008478 skos:exactMatch OMIM:184253 spondylometaphyseal dysplasia, algerian iia semapv:UnspecifiedMatching +MONDO:0008479 skos:exactMatch OMIM:184255 spondylometaphyseal dysplasia, corner fracture iia semapv:UnspecifiedMatching +MONDO:0008481 skos:exactMatch OMIM:184300 spondylosis, cervical semapv:UnspecifiedMatching +MONDO:0008482 skos:exactMatch OMIM:184400 sprengel deformity semapv:UnspecifiedMatching +MONDO:0008483 skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:UnspecifiedMatching +MONDO:0008484 skos:exactMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:UnspecifiedMatching +MONDO:0008485 skos:exactMatch OMIM:184500 steatocystoma multiplex semapv:UnspecifiedMatching +MONDO:0008486 skos:exactMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:UnspecifiedMatching +MONDO:0008487 skos:exactMatch OMIM:184700 polycystic ovary syndrome 1 semapv:UnspecifiedMatching +MONDO:0008488 skos:exactMatch OMIM:184705 steinfeld syndrome semapv:UnspecifiedMatching +MONDO:0008489 skos:exactMatch OMIM:184800 sternum, premature obliteration of sutures of semapv:UnspecifiedMatching +MONDO:0008490 skos:exactMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008491 skos:exactMatch OMIM:184850 stiff-person syndrome semapv:UnspecifiedMatching +MONDO:0008492 skos:exactMatch OMIM:184900 stiff skin syndrome semapv:UnspecifiedMatching +MONDO:0008493 skos:exactMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching +MONDO:0008494 skos:exactMatch OMIM:185020 cryohydrocytosis semapv:UnspecifiedMatching +MONDO:0008495 skos:exactMatch OMIM:185050 storage pool platelet disease semapv:UnspecifiedMatching +MONDO:0008496 skos:exactMatch OMIM:185069 storm syndrome semapv:UnspecifiedMatching +MONDO:0008497 skos:exactMatch OMIM:185070 stormorken syndrome semapv:UnspecifiedMatching +MONDO:0008498 skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:UnspecifiedMatching +MONDO:0008499 skos:exactMatch OMIM:185120 stratton-parker syndrome semapv:UnspecifiedMatching +MONDO:0008500 skos:exactMatch OMIM:185200 striae distensae, familial semapv:UnspecifiedMatching +MONDO:0008501 skos:exactMatch OMIM:185300 sturge-weber syndrome semapv:UnspecifiedMatching +MONDO:0008502 skos:exactMatch OMIM:185460 sulfhemoglobinemia, congenital semapv:UnspecifiedMatching +MONDO:0008503 skos:exactMatch OMIM:185480 suprabulbar paresis, congenital semapv:UnspecifiedMatching +MONDO:0008504 skos:exactMatch OMIM:185500 supravalvular aortic stenosis semapv:UnspecifiedMatching +MONDO:0008505 skos:exactMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:UnspecifiedMatching +MONDO:0008506 skos:exactMatch OMIM:185600 symphalangism of toes semapv:UnspecifiedMatching +MONDO:0008507 skos:exactMatch OMIM:185610 surface polypeptides, anonymous semapv:UnspecifiedMatching +MONDO:0008508 skos:exactMatch OMIM:185650 symphalangism, c. s. lewis iia semapv:UnspecifiedMatching +MONDO:0008509 skos:exactMatch OMIM:185700 symphalangism, distal semapv:UnspecifiedMatching +MONDO:0008510 skos:exactMatch OMIM:185750 symphalangism with multiple anomalies of hands and feet semapv:UnspecifiedMatching +MONDO:0008511 skos:exactMatch omim.ps:185800 Proximal symphalangism semapv:UnspecifiedMatching +MONDO:0008512 skos:exactMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:UnspecifiedMatching +MONDO:0008513 skos:exactMatch OMIM:186000 synpolydactyly 1 semapv:UnspecifiedMatching +MONDO:0008514 skos:exactMatch OMIM:186100 syndactyly, iia 3 semapv:UnspecifiedMatching +MONDO:0008515 skos:exactMatch OMIM:186200 syndactyly, iia 4 semapv:UnspecifiedMatching +MONDO:0008516 skos:exactMatch OMIM:186300 syndactyly, iia 5 semapv:UnspecifiedMatching +MONDO:0008517 skos:exactMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:UnspecifiedMatching +MONDO:0008518 skos:exactMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:UnspecifiedMatching +MONDO:0008519 skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:UnspecifiedMatching +MONDO:0008520 skos:exactMatch OMIM:186550 liebenberg syndrome semapv:UnspecifiedMatching +MONDO:0008521 skos:exactMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:UnspecifiedMatching +MONDO:0008522 skos:exactMatch OMIM:186575 synovial chondromatosis, familial, with dwarfism semapv:UnspecifiedMatching +MONDO:0008523 skos:exactMatch OMIM:186580 blau syndrome semapv:UnspecifiedMatching +MONDO:0008524 skos:exactMatch OMIM:186600 syringomas, multiple semapv:UnspecifiedMatching +MONDO:0008525 skos:exactMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:UnspecifiedMatching +MONDO:0008526 skos:exactMatch OMIM:186750 talonavicular coalition semapv:UnspecifiedMatching +MONDO:0008527 skos:exactMatch OMIM:186850 tarsal coalition semapv:UnspecifiedMatching +MONDO:0008528 skos:exactMatch OMIM:186890 tear protein, anodal semapv:UnspecifiedMatching +MONDO:0008529 skos:exactMatch OMIM:186950 t-cell subgroups, non-hla-linked semapv:UnspecifiedMatching +MONDO:0008530 skos:exactMatch OMIM:187000 teeth, odd shapes of semapv:UnspecifiedMatching +MONDO:0008531 skos:exactMatch OMIM:187030 t-complex locus tcp10b semapv:UnspecifiedMatching +MONDO:0008532 skos:exactMatch OMIM:187050 teeth present at birth semapv:UnspecifiedMatching +MONDO:0008533 skos:exactMatch OMIM:187100 teeth, supernumerary semapv:UnspecifiedMatching +MONDO:0008534 skos:exactMatch OMIM:187260 telangiectasia, hereditary benign semapv:UnspecifiedMatching +MONDO:0008535 skos:exactMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:UnspecifiedMatching +MONDO:0008536 skos:exactMatch OMIM:187340 temperature-sensitive lethal mutation semapv:UnspecifiedMatching +MONDO:0008537 skos:exactMatch OMIM:187350 telecanthus semapv:UnspecifiedMatching +MONDO:0008538 skos:exactMatch OMIM:187360 temporal arteritis semapv:UnspecifiedMatching +MONDO:0008540 skos:exactMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:UnspecifiedMatching +MONDO:0008541 skos:exactMatch OMIM:187400 testicular torsion semapv:UnspecifiedMatching +MONDO:0008542 skos:exactMatch OMIM:187500 tetralogy of fallot semapv:UnspecifiedMatching +MONDO:0008543 skos:exactMatch OMIM:187501 tetralogy of fallot and glaucoma semapv:UnspecifiedMatching +MONDO:0008544 skos:exactMatch OMIM:187510 tetramelic monodactyly semapv:UnspecifiedMatching +MONDO:0008545 skos:exactMatch OMIM:187550 thalassemia, beta+, silent allele semapv:UnspecifiedMatching +MONDO:0008546 skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:UnspecifiedMatching +MONDO:0008547 skos:exactMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:UnspecifiedMatching +MONDO:0008548 skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching +MONDO:0008549 skos:exactMatch OMIM:187750 thoracic dysostosis, isolated semapv:UnspecifiedMatching +MONDO:0008551 skos:exactMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:UnspecifiedMatching +MONDO:0008551 skos:exactMatch OMIM:187770 thoracopelvic dysostosis semapv:UnspecifiedMatching +MONDO:0008552 skos:exactMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:UnspecifiedMatching +MONDO:0008553 skos:exactMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:UnspecifiedMatching +MONDO:0008554 skos:exactMatch OMIM:187950 thrombocythemia 1 semapv:UnspecifiedMatching +MONDO:0008555 skos:exactMatch OMIM:188000 thrombocytopenia 2 semapv:UnspecifiedMatching +MONDO:0008556 skos:exactMatch OMIM:188020 thrombocytopenia, cyclic semapv:UnspecifiedMatching +MONDO:0008557 skos:exactMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:UnspecifiedMatching +MONDO:0008558 skos:exactMatch OMIM:188030 immune thrombocytopenia semapv:UnspecifiedMatching +MONDO:0008559 skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:UnspecifiedMatching +MONDO:0008560 skos:exactMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:UnspecifiedMatching +MONDO:0008561 skos:exactMatch OMIM:188100 thumb deformity semapv:UnspecifiedMatching +MONDO:0008562 skos:exactMatch OMIM:188150 thumb deformity and alopecia semapv:UnspecifiedMatching +MONDO:0008563 skos:exactMatch OMIM:188201 thumbs, stiff, with brachydactyly iia a1 and developmental delay semapv:UnspecifiedMatching +MONDO:0008564 skos:exactMatch OMIM:188400 digeorge syndrome semapv:UnspecifiedMatching +MONDO:0008565 skos:exactMatch OMIM:188455 thyroglossal duct cyst, familial semapv:UnspecifiedMatching +MONDO:0008566 skos:exactMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:UnspecifiedMatching +MONDO:0008567 skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:UnspecifiedMatching +MONDO:0008568 skos:exactMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:UnspecifiedMatching +MONDO:0008569 skos:exactMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008570 skos:exactMatch OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0008571 skos:exactMatch OMIM:188700 blount disease, infantile semapv:UnspecifiedMatching +MONDO:0008572 skos:exactMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:UnspecifiedMatching +MONDO:0008573 skos:exactMatch OMIM:188800 tibial torsion, bilateral medial semapv:UnspecifiedMatching +MONDO:0008574 skos:exactMatch OMIM:188850 tl antigen semapv:UnspecifiedMatching +MONDO:0008576 skos:exactMatch OMIM:189000 toe, fifth, number of phalanges 1n semapv:UnspecifiedMatching +MONDO:0008577 skos:exactMatch OMIM:189100 toe, misshapen semapv:UnspecifiedMatching +MONDO:0008578 skos:exactMatch OMIM:189150 toe, rotated fifth semapv:UnspecifiedMatching +MONDO:0008579 skos:exactMatch OMIM:189200 toes, relative length of first and second semapv:UnspecifiedMatching +MONDO:0008580 skos:exactMatch OMIM:189230 toes, space between first and second semapv:UnspecifiedMatching +MONDO:0008581 skos:exactMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:UnspecifiedMatching +MONDO:0008582 skos:exactMatch OMIM:189500 witkop syndrome semapv:UnspecifiedMatching +MONDO:0008583 skos:exactMatch OMIM:189600 torticollis semapv:UnspecifiedMatching +MONDO:0008584 skos:exactMatch OMIM:189700 torus palatinus and torus mandibularis semapv:UnspecifiedMatching +MONDO:0008586 skos:exactMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:UnspecifiedMatching +MONDO:0008587 skos:exactMatch OMIM:189961 tracheopathia osteoplastica semapv:UnspecifiedMatching +MONDO:0008588 skos:exactMatch OMIM:190100 geniospasm 1 semapv:UnspecifiedMatching +MONDO:0008589 skos:exactMatch OMIM:190200 tremor of intention, ataxia, and lipofuscinosis semapv:UnspecifiedMatching +MONDO:0008590 skos:exactMatch OMIM:190300 tremor, hereditary essential, 1 semapv:UnspecifiedMatching +MONDO:0008591 skos:exactMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:UnspecifiedMatching +MONDO:0008592 skos:exactMatch OMIM:190320 trichodentoosseous syndrome semapv:UnspecifiedMatching +MONDO:0008593 skos:exactMatch OMIM:190330 trichomegaly semapv:UnspecifiedMatching +MONDO:0008594 skos:exactMatch OMIM:190340 discoid fibromas, familial multiple semapv:UnspecifiedMatching +MONDO:0008595 skos:exactMatch OMIM:190345 trichoepitheliomas, multiple desmoplastic semapv:UnspecifiedMatching +MONDO:0008596 skos:exactMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0008597 skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0008598 skos:exactMatch OMIM:190360 trichodysplasia-xeroderma semapv:UnspecifiedMatching +MONDO:0008599 skos:exactMatch OMIM:190400 trigeminal neuralgia semapv:UnspecifiedMatching +MONDO:0008600 skos:exactMatch OMIM:190410 trigger thumb semapv:UnspecifiedMatching +MONDO:0008601 skos:exactMatch OMIM:190420 triglyceride storage disease, iia 1 semapv:UnspecifiedMatching +MONDO:0008602 skos:exactMatch OMIM:190430 triglyceride storage disease, iia 2 semapv:UnspecifiedMatching +MONDO:0008603 skos:exactMatch OMIM:190440 trigonocephaly 1 semapv:UnspecifiedMatching +MONDO:0008604 skos:exactMatch OMIM:190500 triphalangeal thumb with double phalanges semapv:UnspecifiedMatching +MONDO:0008605 skos:exactMatch OMIM:190600 triphalangeal thumb, nonopposable semapv:UnspecifiedMatching +MONDO:0008606 skos:exactMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:UnspecifiedMatching +MONDO:0008607 skos:exactMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:UnspecifiedMatching +MONDO:0008608 skos:exactMatch OMIM:190685 down syndrome semapv:UnspecifiedMatching +MONDO:0008609 skos:exactMatch OMIM:190800 tristichiasis semapv:UnspecifiedMatching +MONDO:0008610 skos:exactMatch OMIM:190900 tritanopia semapv:UnspecifiedMatching +MONDO:0008611 skos:exactMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:UnspecifiedMatching +MONDO:0008612 skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:UnspecifiedMatching +MONDO:0008613 skos:exactMatch OMIM:191150 tuftsin deficiency semapv:UnspecifiedMatching +MONDO:0008614 skos:exactMatch OMIM:191181 suppressor of tumorigenicity 3 semapv:UnspecifiedMatching +MONDO:0008615 skos:exactMatch OMIM:191200 tune deafness semapv:UnspecifiedMatching +MONDO:0008616 skos:exactMatch OMIM:191250 twinning due to superfetation semapv:UnspecifiedMatching +MONDO:0008617 skos:exactMatch OMIM:191390 inflammatory bowel disease 11 semapv:UnspecifiedMatching +MONDO:0008618 skos:exactMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:UnspecifiedMatching +MONDO:0008619 skos:exactMatch OMIM:191420 ulna metaphyseal dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0008620 skos:exactMatch OMIM:191440 ulnar hypoplasia semapv:UnspecifiedMatching +MONDO:0008622 skos:exactMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:UnspecifiedMatching +MONDO:0008623 skos:exactMatch OMIM:191500 undritz anomaly semapv:UnspecifiedMatching +MONDO:0008624 skos:exactMatch OMIM:191520 upington disease semapv:UnspecifiedMatching +MONDO:0008625 skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching +MONDO:0008626 skos:exactMatch OMIM:191550 ureter, bifid or double semapv:UnspecifiedMatching +MONDO:0008627 skos:exactMatch OMIM:191600 ureter, cancer of semapv:UnspecifiedMatching +MONDO:0008628 skos:exactMatch OMIM:191650 ureterocele semapv:UnspecifiedMatching +MONDO:0008629 skos:exactMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008630 skos:exactMatch OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:UnspecifiedMatching +MONDO:0008632 skos:exactMatch OMIM:191850 urticaria, aquagenic semapv:UnspecifiedMatching +MONDO:0008633 skos:exactMatch OMIM:191900 muckle-wells syndrome semapv:UnspecifiedMatching +MONDO:0008634 skos:exactMatch OMIM:191950 urticaria, familial localized heat semapv:UnspecifiedMatching +MONDO:0008635 skos:exactMatch OMIM:192000 uterine anomalies semapv:UnspecifiedMatching +MONDO:0008636 skos:exactMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:UnspecifiedMatching +MONDO:0008637 skos:exactMatch OMIM:192100 uvula, bifid semapv:UnspecifiedMatching +MONDO:0008638 skos:exactMatch OMIM:192200 varicose veins semapv:UnspecifiedMatching +MONDO:0008639 skos:exactMatch OMIM:192300 vascular helix of umbilical cord semapv:UnspecifiedMatching +MONDO:0008640 skos:exactMatch OMIM:192310 vasculitis, lymphocytic, nodular semapv:UnspecifiedMatching +MONDO:0008641 skos:exactMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:UnspecifiedMatching +MONDO:0008642 skos:exactMatch OMIM:192350 vater/vacterl association semapv:UnspecifiedMatching +MONDO:0008643 skos:exactMatch OMIM:192400 veins, pattern of, on anterior thorax semapv:UnspecifiedMatching +MONDO:0008644 skos:exactMatch OMIM:192430 velocardiofacial syndrome semapv:UnspecifiedMatching +MONDO:0008645 skos:exactMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:UnspecifiedMatching +MONDO:0008647 skos:exactMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:UnspecifiedMatching +MONDO:0008648 skos:exactMatch OMIM:192605 ventricular tachycardia, familial semapv:UnspecifiedMatching +MONDO:0008649 skos:exactMatch OMIM:192700 venular insufficiency, systemic semapv:UnspecifiedMatching +MONDO:0008650 skos:exactMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:UnspecifiedMatching +MONDO:0008651 skos:exactMatch OMIM:192900 vertebral hypoplasia with lumbar kyphosis semapv:UnspecifiedMatching +MONDO:0008652 skos:exactMatch OMIM:192950 vertical talus, congenital semapv:UnspecifiedMatching +MONDO:0008653 skos:exactMatch OMIM:193000 vesicoureteral reflux 1 semapv:UnspecifiedMatching +MONDO:0008654 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:UnspecifiedMatching +MONDO:0008655 skos:exactMatch OMIM:193005 vestibulocochlear dysfunction, progressive semapv:UnspecifiedMatching +MONDO:0008658 skos:exactMatch OMIM:193070 virus rd114 RNA complementarity semapv:UnspecifiedMatching +MONDO:0008659 skos:exactMatch OMIM:193090 transcobalamin 1 deficiency semapv:UnspecifiedMatching +MONDO:0008660 skos:exactMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:UnspecifiedMatching +MONDO:0008662 skos:exactMatch OMIM:193220 vitreoretinochoroidopathy semapv:UnspecifiedMatching +MONDO:0008663 skos:exactMatch OMIM:193230 vitreoretinal degeneration, snowflake iia semapv:UnspecifiedMatching +MONDO:0008665 skos:exactMatch OMIM:193240 vocal cord paralysis and ptosis semapv:UnspecifiedMatching +MONDO:0008666 skos:exactMatch OMIM:193250 volvulus of midgut semapv:UnspecifiedMatching +MONDO:0008667 skos:exactMatch OMIM:193300 von hippel-lindau syndrome semapv:UnspecifiedMatching +MONDO:0008668 skos:exactMatch OMIM:193400 von willebrand disease, iia 1 semapv:UnspecifiedMatching +MONDO:0008669 skos:exactMatch OMIM:193450 vulvovaginitis, allergic seminal semapv:UnspecifiedMatching +MONDO:0008670 skos:exactMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0008671 skos:exactMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:UnspecifiedMatching +MONDO:0008672 skos:exactMatch OMIM:193520 watson syndrome semapv:UnspecifiedMatching +MONDO:0008673 skos:exactMatch OMIM:193530 weyers acrofacial dysostosis semapv:UnspecifiedMatching +MONDO:0008675 skos:exactMatch OMIM:193700 arthrogryposis, distal, iia 2a semapv:UnspecifiedMatching +MONDO:0008676 skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:UnspecifiedMatching +MONDO:0008677 skos:exactMatch OMIM:194000 widow's peak semapv:UnspecifiedMatching +MONDO:0008678 skos:exactMatch OMIM:194050 williams-beuren syndrome semapv:UnspecifiedMatching +MONDO:0008679 skos:exactMatch OMIM:194070 wilms tumor 1 semapv:UnspecifiedMatching +MONDO:0008680 skos:exactMatch OMIM:194071 wilms tumor 2 semapv:UnspecifiedMatching +MONDO:0008681 skos:exactMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching +MONDO:0008682 skos:exactMatch OMIM:194080 denys-drash syndrome semapv:UnspecifiedMatching +MONDO:0008683 skos:exactMatch OMIM:194090 wilms tumor 3 semapv:UnspecifiedMatching +MONDO:0008684 skos:exactMatch OMIM:194190 wolf-hirschhorn syndrome semapv:UnspecifiedMatching +MONDO:0008685 skos:exactMatch OMIM:194200 wolff-parkinson-white syndrome semapv:UnspecifiedMatching +MONDO:0008687 skos:exactMatch OMIM:194320 woronets trait semapv:UnspecifiedMatching +MONDO:0008688 skos:exactMatch OMIM:194350 wt limb-blood syndrome semapv:UnspecifiedMatching +MONDO:0008689 skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:UnspecifiedMatching +MONDO:0008690 skos:exactMatch OMIM:194400 xeroderma pigmentosum, autosomal dominant, mild semapv:UnspecifiedMatching +MONDO:0008691 skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:UnspecifiedMatching +MONDO:0008692 skos:exactMatch OMIM:200100 abetalipoproteinemia semapv:UnspecifiedMatching +MONDO:0008693 skos:exactMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:UnspecifiedMatching +MONDO:0008694 skos:exactMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:UnspecifiedMatching +MONDO:0008695 skos:exactMatch OMIM:200150 choreoacanthocytosis semapv:UnspecifiedMatching +MONDO:0008696 skos:exactMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:UnspecifiedMatching +MONDO:0008697 skos:exactMatch OMIM:200300 acetophenetidin sensitivity semapv:UnspecifiedMatching +MONDO:0008699 skos:exactMatch OMIM:200450 achalasia-microcephaly syndrome semapv:UnspecifiedMatching +MONDO:0008700 skos:exactMatch OMIM:200500 acheiropody semapv:UnspecifiedMatching +MONDO:0008701 skos:exactMatch OMIM:200600 achondrogenesis, iia 1a semapv:UnspecifiedMatching +MONDO:0008702 skos:exactMatch OMIM:200610 achondrogenesis, iia 2 semapv:UnspecifiedMatching +MONDO:0008703 skos:exactMatch OMIM:200700 acromesomelic dysplasia 2a semapv:UnspecifiedMatching +MONDO:0008704 skos:exactMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:UnspecifiedMatching +MONDO:0008705 skos:exactMatch OMIM:200950 acid phosphatase deficiency semapv:UnspecifiedMatching +MONDO:0008706 skos:exactMatch OMIM:200970 ackerman syndrome semapv:UnspecifiedMatching +MONDO:0008707 skos:exactMatch OMIM:200980 acrorenal-mandibular syndrome semapv:UnspecifiedMatching +MONDO:0008708 skos:exactMatch OMIM:200990 acrocallosal syndrome semapv:UnspecifiedMatching +MONDO:0008709 skos:exactMatch OMIM:200995 acrocephalopolydactylous dysplasia semapv:UnspecifiedMatching +MONDO:0008710 skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:UnspecifiedMatching +MONDO:0008711 skos:exactMatch OMIM:201020 acrocephalopolysyndactyly iia 4 semapv:UnspecifiedMatching +MONDO:0008712 skos:exactMatch OMIM:201050 acrocraniofacial dysostosis semapv:UnspecifiedMatching +MONDO:0008713 skos:exactMatch OMIM:201100 acrodermatitis enteropathica, zinc-deficiency iia semapv:UnspecifiedMatching +MONDO:0008714 skos:exactMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:UnspecifiedMatching +MONDO:0008716 skos:exactMatch OMIM:201200 acrogeria, gottron iia semapv:UnspecifiedMatching +MONDO:0008717 skos:exactMatch OMIM:201250 acromesomelic dysplasia 2c semapv:UnspecifiedMatching +MONDO:0008719 skos:exactMatch OMIM:201310 acrorenal syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0008720 skos:exactMatch OMIM:201400 acth deficiency, isolated semapv:UnspecifiedMatching +MONDO:0008721 skos:exactMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:UnspecifiedMatching +MONDO:0008722 skos:exactMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:UnspecifiedMatching +MONDO:0008723 skos:exactMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:UnspecifiedMatching +MONDO:0008724 skos:exactMatch OMIM:201550 adducted thumbs syndrome semapv:UnspecifiedMatching +MONDO:0008725 skos:exactMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:UnspecifiedMatching +MONDO:0008726 skos:exactMatch OMIM:201750 antley-bixler syndrome with genital anomalies and disordered steroidogenesis semapv:UnspecifiedMatching +MONDO:0008727 skos:exactMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:UnspecifiedMatching +MONDO:0008728 skos:exactMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:UnspecifiedMatching +MONDO:0008729 skos:exactMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:UnspecifiedMatching +MONDO:0008730 skos:exactMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching +MONDO:0008731 skos:exactMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:UnspecifiedMatching +MONDO:0008732 skos:exactMatch OMIM:202155 adrenal hypoplasia, cytomegalic iia semapv:UnspecifiedMatching +MONDO:0008733 skos:exactMatch omim.ps:202200 Glucocorticoid deficiency semapv:UnspecifiedMatching +MONDO:0008734 skos:exactMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:UnspecifiedMatching +MONDO:0008735 skos:exactMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:UnspecifiedMatching +MONDO:0008736 skos:exactMatch OMIM:202370 peroxisome biogenesis disorder 2b semapv:UnspecifiedMatching +MONDO:0008737 skos:exactMatch OMIM:202400 afibrinogenemia, congenital semapv:UnspecifiedMatching +MONDO:0008738 skos:exactMatch OMIM:202550 aganglionosis, total intestinal semapv:UnspecifiedMatching +MONDO:0008739 skos:exactMatch OMIM:202600 agenesis of cerebral white matter semapv:UnspecifiedMatching +MONDO:0008740 skos:exactMatch OMIM:202650 agnathia-otocephaly complex semapv:UnspecifiedMatching +MONDO:0008741 skos:exactMatch OMIM:202660 pagod syndrome semapv:UnspecifiedMatching +MONDO:0008743 skos:exactMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:UnspecifiedMatching +MONDO:0008744 skos:exactMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:UnspecifiedMatching +MONDO:0008745 skos:exactMatch OMIM:203100 albinism, oculocutaneous, iia 1a semapv:UnspecifiedMatching +MONDO:0008746 skos:exactMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:UnspecifiedMatching +MONDO:0008747 skos:exactMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:UnspecifiedMatching +MONDO:0008748 skos:exactMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:UnspecifiedMatching +MONDO:0008749 skos:exactMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:UnspecifiedMatching +MONDO:0008750 skos:exactMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:UnspecifiedMatching +MONDO:0008751 skos:exactMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:UnspecifiedMatching +MONDO:0008752 skos:exactMatch OMIM:203450 alexander disease semapv:UnspecifiedMatching +MONDO:0008753 skos:exactMatch OMIM:203500 alkaptonuria semapv:UnspecifiedMatching +MONDO:0008754 skos:exactMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0008755 skos:exactMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:UnspecifiedMatching +MONDO:0008756 skos:exactMatch omim.ps:203650 Alopecia-intellectual disability syndrome semapv:UnspecifiedMatching +MONDO:0008757 skos:exactMatch OMIM:203655 alopecia universalis congenita semapv:UnspecifiedMatching +MONDO:0008758 skos:exactMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:UnspecifiedMatching +MONDO:0008759 skos:exactMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0008760 skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:UnspecifiedMatching +MONDO:0008761 skos:exactMatch OMIM:203760 alpha-2-deficient collagen disease semapv:UnspecifiedMatching +MONDO:0008762 skos:exactMatch OMIM:203780 alport syndrome 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0008763 skos:exactMatch OMIM:203800 alstrom syndrome semapv:UnspecifiedMatching +MONDO:0008764 skos:exactMatch OMIM:204000 leber congenital amaurosis 1 semapv:UnspecifiedMatching +MONDO:0008765 skos:exactMatch OMIM:204100 leber congenital amaurosis 2 semapv:UnspecifiedMatching +MONDO:0008766 skos:exactMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:UnspecifiedMatching +MONDO:0008767 skos:exactMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:UnspecifiedMatching +MONDO:0008768 skos:exactMatch OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:UnspecifiedMatching +MONDO:0008769 skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:UnspecifiedMatching +MONDO:0008770 skos:exactMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:UnspecifiedMatching +MONDO:0008771 skos:exactMatch OMIM:204690 amelogenesis imperfecta, iia 1g semapv:UnspecifiedMatching +MONDO:0008772 skos:exactMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:UnspecifiedMatching +MONDO:0008773 skos:exactMatch OMIM:204730 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis semapv:UnspecifiedMatching +MONDO:0008774 skos:exactMatch OMIM:204750 alpha-aminoadipic and alpha-ketoadipic aciduria semapv:UnspecifiedMatching +MONDO:0008775 skos:exactMatch OMIM:204800 amobarbital, deficient n-hydroxylation of semapv:UnspecifiedMatching +MONDO:0008776 skos:exactMatch OMIM:204850 amyloidosis of gingiva and conjunctiva with impaired intellectual development semapv:UnspecifiedMatching +MONDO:0008777 skos:exactMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:UnspecifiedMatching +MONDO:0008778 skos:exactMatch OMIM:204900 amyloidosis, cutaneous bullous semapv:UnspecifiedMatching +MONDO:0008780 skos:exactMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:UnspecifiedMatching +MONDO:0008781 skos:exactMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:UnspecifiedMatching +MONDO:0008782 skos:exactMatch OMIM:205250 amyotrophic lateral sclerosis with polyglucosan bodies semapv:UnspecifiedMatching +MONDO:0008783 skos:exactMatch OMIM:205400 tangier disease semapv:UnspecifiedMatching +MONDO:0008785 skos:exactMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:UnspecifiedMatching +MONDO:0008786 skos:exactMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:UnspecifiedMatching +MONDO:0008787 skos:exactMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:UnspecifiedMatching +MONDO:0008788 skos:exactMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:UnspecifiedMatching +MONDO:0008789 skos:exactMatch OMIM:206300 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane semapv:UnspecifiedMatching +MONDO:0008790 skos:exactMatch OMIM:206400 anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism semapv:UnspecifiedMatching +MONDO:0008791 skos:exactMatch OMIM:206500 anencephaly 1 semapv:UnspecifiedMatching +MONDO:0008792 skos:exactMatch OMIM:206550 angiolipomatosis, familial semapv:UnspecifiedMatching +MONDO:0008793 skos:exactMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:UnspecifiedMatching +MONDO:0008794 skos:exactMatch OMIM:206600 anhidrosis, familial generalized, with abnormal or absent sweat glands semapv:UnspecifiedMatching +MONDO:0008795 skos:exactMatch OMIM:206700 gillespie syndrome semapv:UnspecifiedMatching +MONDO:0008796 skos:exactMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:UnspecifiedMatching +MONDO:0008797 skos:exactMatch OMIM:206780 anodontia of permanent dentition semapv:UnspecifiedMatching +MONDO:0008798 skos:exactMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:UnspecifiedMatching +MONDO:0008799 skos:exactMatch OMIM:206900 microphthalmia, syndromic 3 semapv:UnspecifiedMatching +MONDO:0008800 skos:exactMatch OMIM:206920 microphthalmia with limb anomalies semapv:UnspecifiedMatching +MONDO:0008801 skos:exactMatch OMIM:207000 anosmia for isobutyric acid semapv:UnspecifiedMatching +MONDO:0008802 skos:exactMatch OMIM:207300 antithrombin, familial hemorrhagic diathesis due to semapv:UnspecifiedMatching +MONDO:0008806 skos:exactMatch OMIM:207620 aphalangy with hemivertebrae semapv:UnspecifiedMatching +MONDO:0008807 skos:exactMatch OMIM:107640 apnea, central sleep semapv:UnspecifiedMatching +MONDO:0008807 skos:exactMatch OMIM:207720 apnea, central sleep semapv:UnspecifiedMatching +MONDO:0008808 skos:exactMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:UnspecifiedMatching +MONDO:0008809 skos:exactMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:UnspecifiedMatching +MONDO:0008810 skos:exactMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:UnspecifiedMatching +MONDO:0008811 skos:exactMatch OMIM:207770 aprosencephaly syndrome semapv:UnspecifiedMatching +MONDO:0008812 skos:exactMatch OMIM:207780 aredyld semapv:UnspecifiedMatching +MONDO:0008814 skos:exactMatch OMIM:207800 argininemia semapv:UnspecifiedMatching +MONDO:0008815 skos:exactMatch OMIM:207900 argininosuccinic aciduria semapv:UnspecifiedMatching +MONDO:0008816 skos:exactMatch OMIM:207950 chiari malformation iia 2 semapv:UnspecifiedMatching +MONDO:0008817 skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:UnspecifiedMatching +MONDO:0008818 skos:exactMatch OMIM:208050 arterial tortuosity syndrome semapv:UnspecifiedMatching +MONDO:0008819 skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile semapv:UnspecifiedMatching +MONDO:0008821 skos:exactMatch OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies semapv:UnspecifiedMatching +MONDO:0008822 skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:UnspecifiedMatching +MONDO:0008823 skos:exactMatch OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia semapv:UnspecifiedMatching +MONDO:0008824 skos:exactMatch omim.ps:208150 Fetal akinesia deformation sequence semapv:UnspecifiedMatching +MONDO:0008825 skos:exactMatch OMIM:208155 illum syndrome semapv:UnspecifiedMatching +MONDO:0008826 skos:exactMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:UnspecifiedMatching +MONDO:0008827 skos:exactMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:UnspecifiedMatching +MONDO:0008828 skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:UnspecifiedMatching +MONDO:0008829 skos:exactMatch OMIM:208300 ascites, chylous semapv:UnspecifiedMatching +MONDO:0008830 skos:exactMatch OMIM:208400 aspartylglucosaminuria semapv:UnspecifiedMatching +MONDO:0008831 skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0008832 skos:exactMatch OMIM:208530 right atrial isomerism semapv:UnspecifiedMatching +MONDO:0008833 skos:exactMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:UnspecifiedMatching +MONDO:0008834 skos:exactMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:UnspecifiedMatching +MONDO:0008835 skos:exactMatch OMIM:208600 asthma, short stature, and elevated iga semapv:UnspecifiedMatching +MONDO:0008836 skos:exactMatch OMIM:208700 ataxia with myoclonic epilepsy and presenile dementia semapv:UnspecifiedMatching +MONDO:0008837 skos:exactMatch OMIM:208750 ataxia, deafness, and cardiomyopathy semapv:UnspecifiedMatching +MONDO:0008838 skos:exactMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching +MONDO:0008839 skos:exactMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:UnspecifiedMatching +MONDO:0008840 skos:exactMatch OMIM:208900 ataxia-telangiectasia semapv:UnspecifiedMatching +MONDO:0008841 skos:exactMatch OMIM:208910 ataxia-telangiectasia with generalized skin pigmentation and early death semapv:UnspecifiedMatching +MONDO:0008842 skos:exactMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:UnspecifiedMatching +MONDO:0008843 skos:exactMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:UnspecifiedMatching +MONDO:0008844 skos:exactMatch OMIM:209050 athrombia, essential semapv:UnspecifiedMatching +MONDO:0008845 skos:exactMatch OMIM:209100 atonic-astatic syndrome of foerster semapv:UnspecifiedMatching +MONDO:0008846 skos:exactMatch OMIM:209300 atransferrinemia semapv:UnspecifiedMatching +MONDO:0008847 skos:exactMatch OMIM:209500 atrichia with papular lesions semapv:UnspecifiedMatching +MONDO:0008848 skos:exactMatch OMIM:209600 atrioventricular dissociation semapv:UnspecifiedMatching +MONDO:0008849 skos:exactMatch OMIM:209700 atrophoderma vermiculata semapv:UnspecifiedMatching +MONDO:0008850 skos:exactMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:UnspecifiedMatching +MONDO:0008853 skos:exactMatch OMIM:209885 barber-say syndrome semapv:UnspecifiedMatching +MONDO:0008854 skos:exactMatch OMIM:209900 bardet-biedl syndrome 1 semapv:UnspecifiedMatching +MONDO:0008855 skos:exactMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0008856 skos:exactMatch OMIM:209950 immunodeficiency 27a semapv:UnspecifiedMatching +MONDO:0008857 skos:exactMatch OMIM:209970 beemer lethal malformation syndrome semapv:UnspecifiedMatching +MONDO:0008858 skos:exactMatch OMIM:210000 behr syndrome semapv:UnspecifiedMatching +MONDO:0008859 skos:exactMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:UnspecifiedMatching +MONDO:0008860 skos:exactMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:UnspecifiedMatching +MONDO:0008861 skos:exactMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:UnspecifiedMatching +MONDO:0008862 skos:exactMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:UnspecifiedMatching +MONDO:0008863 skos:exactMatch omim.ps:210250 Sitosterolemia semapv:UnspecifiedMatching +MONDO:0008864 skos:exactMatch OMIM:210350 biemond syndrome 2 semapv:UnspecifiedMatching +MONDO:0008865 skos:exactMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:UnspecifiedMatching +MONDO:0008866 skos:exactMatch OMIM:210400 bifid nose, autosomal recessive semapv:UnspecifiedMatching +MONDO:0008868 skos:exactMatch OMIM:210550 biliary malformation with renal tubular insufficiency semapv:UnspecifiedMatching +MONDO:0008869 skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:UnspecifiedMatching +MONDO:0008870 skos:exactMatch OMIM:210700 microcephalic primordial dwarfism, montreal iia semapv:UnspecifiedMatching +MONDO:0008871 skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:UnspecifiedMatching +MONDO:0008872 skos:exactMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 semapv:UnspecifiedMatching +MONDO:0008873 skos:exactMatch OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 semapv:UnspecifiedMatching +MONDO:0008874 skos:exactMatch OMIM:210740 bangstad syndrome semapv:UnspecifiedMatching +MONDO:0008875 skos:exactMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:UnspecifiedMatching +MONDO:0008876 skos:exactMatch OMIM:210900 bloom syndrome semapv:UnspecifiedMatching +MONDO:0008877 skos:exactMatch OMIM:211000 blue diaper syndrome semapv:UnspecifiedMatching +MONDO:0008878 skos:exactMatch OMIM:211120 bone dysplasia, lethal, holmgren iia semapv:UnspecifiedMatching +MONDO:0008879 skos:exactMatch OMIM:211180 bowen-conradi syndrome semapv:UnspecifiedMatching +MONDO:0008880 skos:exactMatch OMIM:211200 bowen syndrome of multiple malformations semapv:UnspecifiedMatching +MONDO:0008881 skos:exactMatch OMIM:211350 kyphomelic dysplasia semapv:UnspecifiedMatching +MONDO:0008882 skos:exactMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:UnspecifiedMatching +MONDO:0008883 skos:exactMatch OMIM:211369 brachydactyly, iia a2, with microcephaly semapv:UnspecifiedMatching +MONDO:0008884 skos:exactMatch OMIM:211370 brachymetapody-anodontia-hypotrichosis-albinoidism semapv:UnspecifiedMatching +MONDO:0008885 skos:exactMatch OMIM:211380 elsahy-waters syndrome semapv:UnspecifiedMatching +MONDO:0008886 skos:exactMatch OMIM:211390 sabinas brittle hair syndrome semapv:UnspecifiedMatching +MONDO:0008887 skos:exactMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:UnspecifiedMatching +MONDO:0008888 skos:exactMatch OMIM:211450 williams-campbell syndrome semapv:UnspecifiedMatching +MONDO:0008889 skos:exactMatch OMIM:211480 buerger disease semapv:UnspecifiedMatching +MONDO:0008891 skos:exactMatch omim.ps:211530 Brown-Vialetto-Van Laere syndrome semapv:UnspecifiedMatching +MONDO:0008892 skos:exactMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:UnspecifiedMatching +MONDO:0008893 skos:exactMatch OMIM:211750 c syndrome semapv:UnspecifiedMatching +MONDO:0008894 skos:exactMatch OMIM:211770 cahmr syndrome semapv:UnspecifiedMatching +MONDO:0008895 skos:exactMatch OMIM:211800 calcification of joints and arteries semapv:UnspecifiedMatching +MONDO:0008896 skos:exactMatch OMIM:211890 campomelia, cumming iia semapv:UnspecifiedMatching +MONDO:0008898 skos:exactMatch OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 semapv:UnspecifiedMatching +MONDO:0008899 skos:exactMatch OMIM:211920 camptodactyly syndrome, guadalajara, iia 2 semapv:UnspecifiedMatching +MONDO:0008900 skos:exactMatch OMIM:211930 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia semapv:UnspecifiedMatching +MONDO:0008901 skos:exactMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:UnspecifiedMatching +MONDO:0008902 skos:exactMatch OMIM:211965 camptodactyly-ichthyosis syndrome semapv:UnspecifiedMatching +MONDO:0008903 skos:exactMatch OMIM:211980 lung cancer semapv:UnspecifiedMatching +MONDO:0008904 skos:exactMatch OMIM:211990 camptomelic syndrome, long-limb iia semapv:UnspecifiedMatching +MONDO:0008905 skos:exactMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:UnspecifiedMatching +MONDO:0008906 skos:exactMatch OMIM:212060 carbimazole sensitivity semapv:UnspecifiedMatching +MONDO:0008907 skos:exactMatch OMIM:212065 congenital disorder of glycosylation, iia ia semapv:UnspecifiedMatching +MONDO:0008908 skos:exactMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:UnspecifiedMatching +MONDO:0008909 skos:exactMatch OMIM:212067 congenital disorder of glycosylation, iia i/iix semapv:UnspecifiedMatching +MONDO:0008910 skos:exactMatch OMIM:212070 carboxypeptidase n deficiency semapv:UnspecifiedMatching +MONDO:0008911 skos:exactMatch OMIM:212080 cardiac lipidosis, familial semapv:UnspecifiedMatching +MONDO:0008912 skos:exactMatch OMIM:212090 cardiac septal defects with coarctation of the aorta semapv:UnspecifiedMatching +MONDO:0008913 skos:exactMatch OMIM:212093 cardiac valvular dysplasia 1 semapv:UnspecifiedMatching +MONDO:0008914 skos:exactMatch OMIM:212100 cardioauditory syndrome of sanchez cascos semapv:UnspecifiedMatching +MONDO:0008915 skos:exactMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0008916 skos:exactMatch OMIM:212130 cardiomyopathy associated with myopathy and sudden death semapv:UnspecifiedMatching +MONDO:0008917 skos:exactMatch OMIM:212135 cardioskeletal syndrome, kuwaiti iia semapv:UnspecifiedMatching +MONDO:0008918 skos:exactMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching +MONDO:0008919 skos:exactMatch OMIM:212140 carnitine deficiency, systemic primary semapv:UnspecifiedMatching +MONDO:0008920 skos:exactMatch OMIM:212160 carnitine deficiency, myopathic semapv:UnspecifiedMatching +MONDO:0008921 skos:exactMatch OMIM:212200 carnosinemia semapv:UnspecifiedMatching +MONDO:0008922 skos:exactMatch OMIM:212350 sengers syndrome semapv:UnspecifiedMatching +MONDO:0008923 skos:exactMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:UnspecifiedMatching +MONDO:0008924 skos:exactMatch OMIM:212400 cataract and congenital ichthyosis semapv:UnspecifiedMatching +MONDO:0008925 skos:exactMatch OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy semapv:UnspecifiedMatching +MONDO:0008926 skos:exactMatch omim.ps:214150 Cerebrooculofacioskeletal syndrome semapv:UnspecifiedMatching +MONDO:0008927 skos:exactMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:UnspecifiedMatching +MONDO:0008928 skos:exactMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching +MONDO:0008930 skos:exactMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0008931 skos:exactMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:UnspecifiedMatching +MONDO:0008932 skos:exactMatch OMIM:212790 premature centromere division semapv:UnspecifiedMatching +MONDO:0008933 skos:exactMatch OMIM:212800 cephalin lipidosis semapv:UnspecifiedMatching +MONDO:0008934 skos:exactMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0008935 skos:exactMatch OMIM:212840 gordon holmes syndrome semapv:UnspecifiedMatching +MONDO:0008936 skos:exactMatch OMIM:212850 cerebellar ataxia and neurosensory deafness semapv:UnspecifiedMatching +MONDO:0008937 skos:exactMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:UnspecifiedMatching +MONDO:0008938 skos:exactMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:UnspecifiedMatching +MONDO:0008939 skos:exactMatch OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay semapv:UnspecifiedMatching +MONDO:0008941 skos:exactMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:UnspecifiedMatching +MONDO:0008943 skos:exactMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0008944 skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:UnspecifiedMatching +MONDO:0008945 skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:UnspecifiedMatching +MONDO:0008946 skos:exactMatch OMIM:213500 cerebral angiopathy, dysphoric semapv:UnspecifiedMatching +MONDO:0008947 skos:exactMatch omim.ps:213600 Basal ganglia calcification, idiopathic semapv:UnspecifiedMatching +MONDO:0008948 skos:exactMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:UnspecifiedMatching +MONDO:0008949 skos:exactMatch OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers semapv:UnspecifiedMatching +MONDO:0008950 skos:exactMatch OMIM:213900 cerebral sclerosis similar to pelizaeus-merzbacher disease semapv:UnspecifiedMatching +MONDO:0008951 skos:exactMatch OMIM:213950 cerebrocortical degeneration of infancy semapv:UnspecifiedMatching +MONDO:0008953 skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:UnspecifiedMatching +MONDO:0008954 skos:exactMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:UnspecifiedMatching +MONDO:0008955 skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:UnspecifiedMatching +MONDO:0008957 skos:exactMatch OMIM:214290 cervical vertebrae, agenesis of semapv:UnspecifiedMatching +MONDO:0008958 skos:exactMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0008959 skos:exactMatch OMIM:214350 chand syndrome semapv:UnspecifiedMatching +MONDO:0008960 skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers semapv:UnspecifiedMatching +MONDO:0008961 skos:exactMatch OMIM:214400 charcot-marie-tooth disease, iia 4a semapv:UnspecifiedMatching +MONDO:0008962 skos:exactMatch OMIM:214450 griscelli syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0008963 skos:exactMatch OMIM:214500 chediak-higashi syndrome semapv:UnspecifiedMatching +MONDO:0008964 skos:exactMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:UnspecifiedMatching +MONDO:0008965 skos:exactMatch OMIM:214800 charge syndrome semapv:UnspecifiedMatching +MONDO:0008966 skos:exactMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:UnspecifiedMatching +MONDO:0008967 skos:exactMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:UnspecifiedMatching +MONDO:0008968 skos:exactMatch OMIM:214980 cholestasis with gallstone, ataxia, and visual disturbance semapv:UnspecifiedMatching +MONDO:0008969 skos:exactMatch OMIM:215030 cholesterol pneumonia semapv:UnspecifiedMatching +MONDO:0008970 skos:exactMatch OMIM:215045 chondrodysplasia, blomstrand iia semapv:UnspecifiedMatching +MONDO:0008971 skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:UnspecifiedMatching +MONDO:0008972 skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:UnspecifiedMatching +MONDO:0008973 skos:exactMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:UnspecifiedMatching +MONDO:0008974 skos:exactMatch OMIM:215140 greenberg dysplasia semapv:UnspecifiedMatching +MONDO:0008975 skos:exactMatch omim.ps:184840 Otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0008976 skos:exactMatch OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome semapv:UnspecifiedMatching +MONDO:0008977 skos:exactMatch OMIM:215300 chondrosarcoma semapv:UnspecifiedMatching +MONDO:0008978 skos:exactMatch OMIM:215400 chordoma, susceptibility to semapv:UnspecifiedMatching +MONDO:0008979 skos:exactMatch OMIM:215450 chorea, benign familial semapv:UnspecifiedMatching +MONDO:0008980 skos:exactMatch OMIM:215470 boucher-neuhauser syndrome semapv:UnspecifiedMatching +MONDO:0008981 skos:exactMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:UnspecifiedMatching +MONDO:0008982 skos:exactMatch omim.ps:215500 Choroidal dystrophy, central areolar semapv:UnspecifiedMatching +MONDO:0008983 skos:exactMatch OMIM:215510 chromosomal instability with tissue-specific radiosensitivity semapv:UnspecifiedMatching +MONDO:0008984 skos:exactMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:UnspecifiedMatching +MONDO:0008985 skos:exactMatch OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules semapv:UnspecifiedMatching +MONDO:0008986 skos:exactMatch OMIM:215550 circumvallate placenta syndrome semapv:UnspecifiedMatching +MONDO:0008988 skos:exactMatch OMIM:215700 citrullinemia, classic semapv:UnspecifiedMatching +MONDO:0008989 skos:exactMatch OMIM:215720 citrulline transport defect semapv:UnspecifiedMatching +MONDO:0008990 skos:exactMatch OMIM:215800 cleft larynx, posterior semapv:UnspecifiedMatching +MONDO:0008991 skos:exactMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:UnspecifiedMatching +MONDO:0008992 skos:exactMatch OMIM:216100 juberg-hayward syndrome semapv:UnspecifiedMatching +MONDO:0008993 skos:exactMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:UnspecifiedMatching +MONDO:0008994 skos:exactMatch OMIM:216330 cleidocranial dysplasia, recessive form semapv:UnspecifiedMatching +MONDO:0008995 skos:exactMatch OMIM:216340 yunis-varon syndrome semapv:UnspecifiedMatching +MONDO:0008999 skos:exactMatch OMIM:216550 cohen syndrome semapv:UnspecifiedMatching +MONDO:0009000 skos:exactMatch OMIM:216700 collagenosis, familial reactive perforating semapv:UnspecifiedMatching +MONDO:0009001 skos:exactMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:UnspecifiedMatching +MONDO:0009002 skos:exactMatch OMIM:216820 coloboma, ocular, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009003 skos:exactMatch OMIM:216900 achromatopsia 2 semapv:UnspecifiedMatching +MONDO:0009005 skos:exactMatch OMIM:216950 complement component c1r/c1s deficiency semapv:UnspecifiedMatching +MONDO:0009006 skos:exactMatch OMIM:217000 complement component 2 deficiency semapv:UnspecifiedMatching +MONDO:0009007 skos:exactMatch OMIM:217080 jalili syndrome semapv:UnspecifiedMatching +MONDO:0009008 skos:exactMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:UnspecifiedMatching +MONDO:0009009 skos:exactMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:UnspecifiedMatching +MONDO:0009012 skos:exactMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:UnspecifiedMatching +MONDO:0009013 skos:exactMatch OMIM:217200 convulsive disorder, familial, with prenatal or early onset semapv:UnspecifiedMatching +MONDO:0009014 skos:exactMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009015 skos:exactMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:UnspecifiedMatching +MONDO:0009016 skos:exactMatch OMIM:217500 corneal dystrophy, band-shaped semapv:UnspecifiedMatching +MONDO:0009017 skos:exactMatch OMIM:217520 corneal degeneration, band-shaped spheroid semapv:UnspecifiedMatching +MONDO:0009018 skos:exactMatch OMIM:217600 central cloudy dystrophy of francois semapv:UnspecifiedMatching +MONDO:0009019 skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:UnspecifiedMatching +MONDO:0009020 skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:UnspecifiedMatching +MONDO:0009021 skos:exactMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:UnspecifiedMatching +MONDO:0009022 skos:exactMatch OMIM:217990 corpus callosum, agenesis of semapv:UnspecifiedMatching +MONDO:0009024 skos:exactMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:UnspecifiedMatching +MONDO:0009025 skos:exactMatch OMIM:218030 apparent mineralocorticoid excess semapv:UnspecifiedMatching +MONDO:0009026 skos:exactMatch OMIM:218040 costello syndrome semapv:UnspecifiedMatching +MONDO:0009027 skos:exactMatch OMIM:218050 cramps, familial adolescent semapv:UnspecifiedMatching +MONDO:0009028 skos:exactMatch OMIM:218090 crane-heise syndrome semapv:UnspecifiedMatching +MONDO:0009029 skos:exactMatch OMIM:218100 cranial nerves, congenital paresis of semapv:UnspecifiedMatching +MONDO:0009030 skos:exactMatch OMIM:218200 cranial nerves, recurrent paresis of semapv:UnspecifiedMatching +MONDO:0009031 skos:exactMatch OMIM:218300 craniodiaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0009032 skos:exactMatch omim.ps:218330 Cranioectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0009033 skos:exactMatch OMIM:218340 temtamy syndrome semapv:UnspecifiedMatching +MONDO:0009034 skos:exactMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:UnspecifiedMatching +MONDO:0009035 skos:exactMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009036 skos:exactMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:UnspecifiedMatching +MONDO:0009037 skos:exactMatch OMIM:218530 craniosynostosis with anomalies of the cranial base and digits semapv:UnspecifiedMatching +MONDO:0009038 skos:exactMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:UnspecifiedMatching +MONDO:0009039 skos:exactMatch OMIM:218600 baller-gerold syndrome semapv:UnspecifiedMatching +MONDO:0009040 skos:exactMatch OMIM:218649 craniosynostosis-mental retardation syndrome of 51n and gettig semapv:UnspecifiedMatching +MONDO:0009041 skos:exactMatch OMIM:218650 craniosynostosis-mental retardation-clefting syndrome semapv:UnspecifiedMatching +MONDO:0009042 skos:exactMatch OMIM:218670 craniotelencephalic dysplasia semapv:UnspecifiedMatching +MONDO:0009045 skos:exactMatch OMIM:218900 crome syndrome semapv:UnspecifiedMatching +MONDO:0009046 skos:exactMatch omim.ps:219000 Fraser syndrome semapv:UnspecifiedMatching +MONDO:0009047 skos:exactMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:UnspecifiedMatching +MONDO:0009048 skos:exactMatch OMIM:219070 curved nail of fourth toe semapv:UnspecifiedMatching +MONDO:0009050 skos:exactMatch OMIM:219090 pituitary adenoma 4, acth-secreting semapv:UnspecifiedMatching +MONDO:0009051 skos:exactMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:UnspecifiedMatching +MONDO:0009052 skos:exactMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:UnspecifiedMatching +MONDO:0009053 skos:exactMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:UnspecifiedMatching +MONDO:0009055 skos:exactMatch OMIM:219250 cutis marmorata telangiectatica congenita semapv:UnspecifiedMatching +MONDO:0009056 skos:exactMatch OMIM:219300 cutis verticis gyrata and mental retardation semapv:UnspecifiedMatching +MONDO:0009057 skos:exactMatch OMIM:219400 cyanosis and hepatic disease semapv:UnspecifiedMatching +MONDO:0009058 skos:exactMatch OMIM:219500 cystathioninuria semapv:UnspecifiedMatching +MONDO:0009059 skos:exactMatch OMIM:219550 cysteine peptiduria semapv:UnspecifiedMatching +MONDO:0009060 skos:exactMatch OMIM:219600 cystic disease of lung semapv:UnspecifiedMatching +MONDO:0009061 skos:exactMatch OMIM:219700 cystic fibrosis semapv:UnspecifiedMatching +MONDO:0009062 skos:exactMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:UnspecifiedMatching +MONDO:0009063 skos:exactMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:UnspecifiedMatching +MONDO:0009064 skos:exactMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:UnspecifiedMatching +MONDO:0009066 skos:exactMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia semapv:UnspecifiedMatching +MONDO:0009067 skos:exactMatch OMIM:220100 cystinuria semapv:UnspecifiedMatching +MONDO:0009068 skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:UnspecifiedMatching +MONDO:0009069 skos:exactMatch OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 semapv:UnspecifiedMatching +MONDO:0009070 skos:exactMatch OMIM:220120 d-glyceric aciduria semapv:UnspecifiedMatching +MONDO:0009072 skos:exactMatch OMIM:220200 dandy-walker syndrome semapv:UnspecifiedMatching +MONDO:0009073 skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:UnspecifiedMatching +MONDO:0009074 skos:exactMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:UnspecifiedMatching +MONDO:0009075 skos:exactMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:UnspecifiedMatching +MONDO:0009076 skos:exactMatch OMIM:220290 deafness, autosomal recessive 1a semapv:UnspecifiedMatching +MONDO:0009077 skos:exactMatch OMIM:220300 deafness, congenital, and familial myoclonic epilepsy semapv:UnspecifiedMatching +MONDO:0009079 skos:exactMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:UnspecifiedMatching +MONDO:0009080 skos:exactMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009081 skos:exactMatch OMIM:220900 deafness, congenital, with total albinism semapv:UnspecifiedMatching +MONDO:0009082 skos:exactMatch OMIM:221200 deafness and myopia semapv:UnspecifiedMatching +MONDO:0009083 skos:exactMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:UnspecifiedMatching +MONDO:0009084 skos:exactMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:UnspecifiedMatching +MONDO:0009085 skos:exactMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:UnspecifiedMatching +MONDO:0009086 skos:exactMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:UnspecifiedMatching +MONDO:0009087 skos:exactMatch OMIM:221500 deafness, neural, congenital moderate semapv:UnspecifiedMatching +MONDO:0009088 skos:exactMatch OMIM:221700 deafness, neural, with atypical atopic dermatitis semapv:UnspecifiedMatching +MONDO:0009089 skos:exactMatch OMIM:221740 deafness-oligodontia syndrome semapv:UnspecifiedMatching +MONDO:0009090 skos:exactMatch OMIM:221745 deafness, sensorineural, autosomal-mitochondrial iia semapv:UnspecifiedMatching +MONDO:0009091 skos:exactMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:UnspecifiedMatching +MONDO:0009092 skos:exactMatch omim.ps:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:UnspecifiedMatching +MONDO:0009093 skos:exactMatch OMIM:221790 dermatoleukodystrophy semapv:UnspecifiedMatching +MONDO:0009094 skos:exactMatch OMIM:221800 dermochondrocorneal dystrophy semapv:UnspecifiedMatching +MONDO:0009095 skos:exactMatch OMIM:221810 dermatoosteolysis, kirghizian iia semapv:UnspecifiedMatching +MONDO:0009097 skos:exactMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009098 skos:exactMatch OMIM:221950 dextrocardia with unusual facies and microphthalmia semapv:UnspecifiedMatching +MONDO:0009099 skos:exactMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:UnspecifiedMatching +MONDO:0009101 skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:UnspecifiedMatching +MONDO:0009102 skos:exactMatch OMIM:222350 diaminopentanuria semapv:UnspecifiedMatching +MONDO:0009103 skos:exactMatch OMIM:222400 diaphragmatic hernia 2 semapv:UnspecifiedMatching +MONDO:0009104 skos:exactMatch OMIM:222448 donnai-barrow syndrome semapv:UnspecifiedMatching +MONDO:0009105 skos:exactMatch omim.ps:222470 Trichohepatoenteric syndrome semapv:UnspecifiedMatching +MONDO:0009106 skos:exactMatch OMIM:222500 diastematomyelia semapv:UnspecifiedMatching +MONDO:0009107 skos:exactMatch OMIM:222600 diastrophic dysplasia semapv:UnspecifiedMatching +MONDO:0009108 skos:exactMatch OMIM:222690 dibasic amino aciduria 1 semapv:UnspecifiedMatching +MONDO:0009109 skos:exactMatch OMIM:222700 lysinuric protein intolerance semapv:UnspecifiedMatching +MONDO:0009110 skos:exactMatch OMIM:222730 dicarboxylic aminoaciduria semapv:UnspecifiedMatching +MONDO:0009111 skos:exactMatch OMIM:222748 dihydropyrimidinase deficiency semapv:UnspecifiedMatching +MONDO:0009112 skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:UnspecifiedMatching +MONDO:0009113 skos:exactMatch OMIM:222800 erythrocytosis, familial, 8 semapv:UnspecifiedMatching +MONDO:0009114 skos:exactMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:UnspecifiedMatching +MONDO:0009115 skos:exactMatch OMIM:223000 lactase deficiency, congenital semapv:UnspecifiedMatching +MONDO:0009117 skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching +MONDO:0009118 skos:exactMatch OMIM:223300 disseminated sclerosis with narcolepsy semapv:UnspecifiedMatching +MONDO:0009119 skos:exactMatch OMIM:223320 diverticulosis, small-intestinal semapv:UnspecifiedMatching +MONDO:0009120 skos:exactMatch OMIM:223330 diverticulosis of bowel, hernia, and retinal detachment semapv:UnspecifiedMatching +MONDO:0009121 skos:exactMatch OMIM:223340 dk phocomelia syndrome semapv:UnspecifiedMatching +MONDO:0009122 skos:exactMatch OMIM:223350 dohle bodies and leukemia semapv:UnspecifiedMatching +MONDO:0009123 skos:exactMatch OMIM:223360 orthostatic hypotension 1 semapv:UnspecifiedMatching +MONDO:0009124 skos:exactMatch OMIM:223370 dubowitz syndrome semapv:UnspecifiedMatching +MONDO:0009125 skos:exactMatch OMIM:223380 dopamine beta-hydroxylase, plasma, thermolability of semapv:UnspecifiedMatching +MONDO:0009126 skos:exactMatch OMIM:223400 duodenal atresia semapv:UnspecifiedMatching +MONDO:0009127 skos:exactMatch OMIM:223500 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone semapv:UnspecifiedMatching +MONDO:0009128 skos:exactMatch OMIM:223540 dwarfism, mental retardation, and eye abnormality semapv:UnspecifiedMatching +MONDO:0009129 skos:exactMatch OMIM:223550 dwarfism, proportionate, with hip dislocation semapv:UnspecifiedMatching +MONDO:0009130 skos:exactMatch OMIM:223800 dyggve-melchior-clausen disease semapv:UnspecifiedMatching +MONDO:0009131 skos:exactMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:UnspecifiedMatching +MONDO:0009132 skos:exactMatch OMIM:224000 dysautonomia-like disorder semapv:UnspecifiedMatching +MONDO:0009133 skos:exactMatch omim.ps:224050 Cerebellar ataxia, mental retardation, and dysequilibrium semapv:UnspecifiedMatching +MONDO:0009134 skos:exactMatch OMIM:224100 anemia, congenital dyserythropoietic, iia 2 semapv:UnspecifiedMatching +MONDO:0009135 skos:exactMatch OMIM:224120 anemia, congenital dyserythropoietic, iia ia semapv:UnspecifiedMatching +MONDO:0009136 skos:exactMatch OMIM:224230 dyskeratosis congenita, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0009137 skos:exactMatch OMIM:224250 dysmyelination with jaundice semapv:UnspecifiedMatching +MONDO:0009138 skos:exactMatch OMIM:224300 dysosteosclerosis semapv:UnspecifiedMatching +MONDO:0009139 skos:exactMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia semapv:UnspecifiedMatching +MONDO:0009140 skos:exactMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia semapv:UnspecifiedMatching +MONDO:0009141 skos:exactMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009142 skos:exactMatch OMIM:224550 dystonia with ringbinden semapv:UnspecifiedMatching +MONDO:0009143 skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:UnspecifiedMatching +MONDO:0009144 skos:exactMatch OMIM:224700 ebstein anomaly semapv:UnspecifiedMatching +MONDO:0009145 skos:exactMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:UnspecifiedMatching +MONDO:0009146 skos:exactMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:UnspecifiedMatching +MONDO:0009147 skos:exactMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009148 skos:exactMatch OMIM:225000 rosselli-gulienetti syndrome semapv:UnspecifiedMatching +MONDO:0009149 skos:exactMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:UnspecifiedMatching +MONDO:0009150 skos:exactMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:UnspecifiedMatching +MONDO:0009151 skos:exactMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0009152 skos:exactMatch OMIM:225100 ectopia lentis 2, isolated, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009153 skos:exactMatch OMIM:225200 ectopia lentis et pupillae semapv:UnspecifiedMatching +MONDO:0009154 skos:exactMatch OMIM:225250 hypothyroidism, congenital, nongoitrous, 5 semapv:UnspecifiedMatching +MONDO:0009155 skos:exactMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:UnspecifiedMatching +MONDO:0009156 skos:exactMatch OMIM:225290 ectrodactyly-polydactyly semapv:UnspecifiedMatching +MONDO:0009157 skos:exactMatch OMIM:225300 split-hand/foot malformation 6 semapv:UnspecifiedMatching +MONDO:0009158 skos:exactMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:UnspecifiedMatching +MONDO:0009159 skos:exactMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular iia semapv:UnspecifiedMatching +MONDO:0009161 skos:exactMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:UnspecifiedMatching +MONDO:0009162 skos:exactMatch OMIM:225500 ellis-van creveld syndrome semapv:UnspecifiedMatching +MONDO:0009163 skos:exactMatch OMIM:225700 encephalomalacia, multilocular semapv:UnspecifiedMatching +MONDO:0009164 skos:exactMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:UnspecifiedMatching +MONDO:0009165 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:UnspecifiedMatching +MONDO:0009166 skos:exactMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:UnspecifiedMatching +MONDO:0009167 skos:exactMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:UnspecifiedMatching +MONDO:0009168 skos:exactMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:UnspecifiedMatching +MONDO:0009169 skos:exactMatch OMIM:226000 endocardial fibroelastosis semapv:UnspecifiedMatching +MONDO:0009170 skos:exactMatch OMIM:226100 endocardial fibroelastosis and coarctation of abdominal aorta semapv:UnspecifiedMatching +MONDO:0009171 skos:exactMatch OMIM:226110 endothelial dystrophy, congenital hereditary, with nail hypoplasia semapv:UnspecifiedMatching +MONDO:0009172 skos:exactMatch OMIM:226150 enterocolitis semapv:UnspecifiedMatching +MONDO:0009173 skos:exactMatch OMIM:226200 enterokinase deficiency semapv:UnspecifiedMatching +MONDO:0009174 skos:exactMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:UnspecifiedMatching +MONDO:0009175 skos:exactMatch OMIM:226350 eosinophilic fasciitis semapv:UnspecifiedMatching +MONDO:0009177 skos:exactMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:UnspecifiedMatching +MONDO:0009178 skos:exactMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:UnspecifiedMatching +MONDO:0009179 skos:exactMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009180 skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:UnspecifiedMatching +MONDO:0009181 skos:exactMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:UnspecifiedMatching +MONDO:0009182 skos:exactMatch OMIM:226700 epidermolysis bullosa, junctional 1b, severe semapv:UnspecifiedMatching +MONDO:0009183 skos:exactMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:UnspecifiedMatching +MONDO:0009184 skos:exactMatch OMIM:226735 epidermolysis bullosa with diaphragmatic hernia semapv:UnspecifiedMatching +MONDO:0009185 skos:exactMatch OMIM:226750 kohlschutter-tonz syndrome semapv:UnspecifiedMatching +MONDO:0009186 skos:exactMatch OMIM:226800 epilepsy, photogenic, with spastic diplegia and mental retardation semapv:UnspecifiedMatching +MONDO:0009187 skos:exactMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:UnspecifiedMatching +MONDO:0009188 skos:exactMatch OMIM:226850 epilepsy-telangiectasia semapv:UnspecifiedMatching +MONDO:0009189 skos:exactMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:UnspecifiedMatching +MONDO:0009190 skos:exactMatch OMIM:226950 epiphyseal dysplasia of femoral head, myopia, and deafness semapv:UnspecifiedMatching +MONDO:0009191 skos:exactMatch OMIM:226960 lowry-wood syndrome semapv:UnspecifiedMatching +MONDO:0009192 skos:exactMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:UnspecifiedMatching +MONDO:0009193 skos:exactMatch OMIM:226985 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract semapv:UnspecifiedMatching +MONDO:0009194 skos:exactMatch OMIM:226990 immunodeficiency 32b semapv:UnspecifiedMatching +MONDO:0009195 skos:exactMatch OMIM:227000 erythema of acral regions semapv:UnspecifiedMatching +MONDO:0009196 skos:exactMatch OMIM:227010 ermine phenotype semapv:UnspecifiedMatching +MONDO:0009197 skos:exactMatch OMIM:227050 transient erythroblastopenia of childhood semapv:UnspecifiedMatching +MONDO:0009198 skos:exactMatch OMIM:227090 erythroderma, lethal congenital semapv:UnspecifiedMatching +MONDO:0009199 skos:exactMatch OMIM:227150 ethanolaminosis semapv:UnspecifiedMatching +MONDO:0009200 skos:exactMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:UnspecifiedMatching +MONDO:0009201 skos:exactMatch OMIM:227250 facial abnormalities, kyphoscoliosis, and mental retardation semapv:UnspecifiedMatching +MONDO:0009202 skos:exactMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:UnspecifiedMatching +MONDO:0009203 skos:exactMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:UnspecifiedMatching +MONDO:0009204 skos:exactMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:UnspecifiedMatching +MONDO:0009205 skos:exactMatch OMIM:227280 faciocardiorenal syndrome semapv:UnspecifiedMatching +MONDO:0009206 skos:exactMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:UnspecifiedMatching +MONDO:0009207 skos:exactMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:UnspecifiedMatching +MONDO:0009208 skos:exactMatch OMIM:227320 faciothoracogenital syndrome semapv:UnspecifiedMatching +MONDO:0009209 skos:exactMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009210 skos:exactMatch OMIM:227400 factor 5 deficiency semapv:UnspecifiedMatching +MONDO:0009211 skos:exactMatch OMIM:227500 factor 7 deficiency semapv:UnspecifiedMatching +MONDO:0009212 skos:exactMatch OMIM:227600 factor 10 deficiency semapv:UnspecifiedMatching +MONDO:0009213 skos:exactMatch OMIM:227645 fanconi anemia, complementation group c semapv:UnspecifiedMatching +MONDO:0009214 skos:exactMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:UnspecifiedMatching +MONDO:0009215 skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:UnspecifiedMatching +MONDO:0009216 skos:exactMatch OMIM:227810 fanconi-bickel syndrome semapv:UnspecifiedMatching +MONDO:0009217 skos:exactMatch OMIM:227850 fanconi-like syndrome semapv:UnspecifiedMatching +MONDO:0009218 skos:exactMatch OMIM:228000 farber lipogranulomatosis semapv:UnspecifiedMatching +MONDO:0009219 skos:exactMatch OMIM:228020 fascial dystrophy, congenital semapv:UnspecifiedMatching +MONDO:0009220 skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:UnspecifiedMatching +MONDO:0009221 skos:exactMatch OMIM:228200 femur-fibula-ulna syndrome semapv:UnspecifiedMatching +MONDO:0009222 skos:exactMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:UnspecifiedMatching +MONDO:0009223 skos:exactMatch OMIM:228300 hypogonadotropic hypogonadism 23 with or without anosmia semapv:UnspecifiedMatching +MONDO:0009224 skos:exactMatch OMIM:228355 fetal iodine deficiency disorder semapv:UnspecifiedMatching +MONDO:0009225 skos:exactMatch OMIM:228400 fever, familial lifelong persistent semapv:UnspecifiedMatching +MONDO:0009226 skos:exactMatch OMIM:228520 fibrochondrogenesis 1 semapv:UnspecifiedMatching +MONDO:0009227 skos:exactMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:UnspecifiedMatching +MONDO:0009228 skos:exactMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:UnspecifiedMatching +MONDO:0009229 skos:exactMatch OMIM:228600 hyaline fibromatosis syndrome semapv:UnspecifiedMatching +MONDO:0009230 skos:exactMatch OMIM:228800 fibrosclerosis, multifocal semapv:UnspecifiedMatching +MONDO:0009231 skos:exactMatch OMIM:228900 acromesomelic dysplasia 2b semapv:UnspecifiedMatching +MONDO:0009232 skos:exactMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:UnspecifiedMatching +MONDO:0009233 skos:exactMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:UnspecifiedMatching +MONDO:0009234 skos:exactMatch OMIM:228960 high molecular weight kininogen deficiency semapv:UnspecifiedMatching +MONDO:0009235 skos:exactMatch OMIM:228980 fleck retina, familial benign semapv:UnspecifiedMatching +MONDO:0009236 skos:exactMatch OMIM:228990 fleck retina of kandori semapv:UnspecifiedMatching +MONDO:0009237 skos:exactMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:UnspecifiedMatching +MONDO:0009238 skos:exactMatch OMIM:229050 folate malabsorption, hereditary semapv:UnspecifiedMatching +MONDO:0009239 skos:exactMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:UnspecifiedMatching +MONDO:0009240 skos:exactMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:UnspecifiedMatching +MONDO:0009241 skos:exactMatch OMIM:229120 fountain syndrome semapv:UnspecifiedMatching +MONDO:0009242 skos:exactMatch omim.ps:229200 Brittle cornea syndrome semapv:UnspecifiedMatching +MONDO:0009243 skos:exactMatch OMIM:229230 fraser-like syndrome semapv:UnspecifiedMatching +MONDO:0009244 skos:exactMatch OMIM:229250 freesia flowers, inability to smell semapv:UnspecifiedMatching +MONDO:0009246 skos:exactMatch OMIM:229310 friedreich ataxia and congenital glaucoma semapv:UnspecifiedMatching +MONDO:0009247 skos:exactMatch OMIM:229400 frontofacionasal dysplasia semapv:UnspecifiedMatching +MONDO:0009248 skos:exactMatch OMIM:229500 fructose and galactose intolerance semapv:UnspecifiedMatching +MONDO:0009249 skos:exactMatch OMIM:229600 fructose intolerance, hereditary semapv:UnspecifiedMatching +MONDO:0009250 skos:exactMatch OMIM:229650 fructose utilization semapv:UnspecifiedMatching +MONDO:0009251 skos:exactMatch OMIM:229700 fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching +MONDO:0009252 skos:exactMatch OMIM:229800 fructosuria, essential semapv:UnspecifiedMatching +MONDO:0009253 skos:exactMatch OMIM:229850 fryns syndrome semapv:UnspecifiedMatching +MONDO:0009254 skos:exactMatch OMIM:230000 fucosidosis semapv:UnspecifiedMatching +MONDO:0009255 skos:exactMatch OMIM:230200 galactosemia 2 semapv:UnspecifiedMatching +MONDO:0009256 skos:exactMatch OMIM:230300 galactorrhea semapv:UnspecifiedMatching +MONDO:0009257 skos:exactMatch OMIM:230350 galactosemia 3 semapv:UnspecifiedMatching +MONDO:0009258 skos:exactMatch OMIM:230400 galactosemia 1 semapv:UnspecifiedMatching +MONDO:0009259 skos:exactMatch OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0009260 skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:UnspecifiedMatching +MONDO:0009261 skos:exactMatch OMIM:230600 gm1-gangliosidosis, iia 2 semapv:UnspecifiedMatching +MONDO:0009262 skos:exactMatch OMIM:230650 gm1-gangliosidosis, iia 3 semapv:UnspecifiedMatching +MONDO:0009263 skos:exactMatch OMIM:230740 gapo syndrome semapv:UnspecifiedMatching +MONDO:0009264 skos:exactMatch OMIM:230750 gastroschisis semapv:UnspecifiedMatching +MONDO:0009265 skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:UnspecifiedMatching +MONDO:0009266 skos:exactMatch OMIM:230900 gaucher disease, iia 2 semapv:UnspecifiedMatching +MONDO:0009267 skos:exactMatch OMIM:231000 gaucher disease, iia 3 semapv:UnspecifiedMatching +MONDO:0009268 skos:exactMatch OMIM:231005 gaucher disease, iia 3c semapv:UnspecifiedMatching +MONDO:0009269 skos:exactMatch OMIM:231050 geleophysic dysplasia 1 semapv:UnspecifiedMatching +MONDO:0009270 skos:exactMatch OMIM:231060 genitopalatocardiac syndrome semapv:UnspecifiedMatching +MONDO:0009271 skos:exactMatch OMIM:231070 geroderma osteodysplasticum semapv:UnspecifiedMatching +MONDO:0009272 skos:exactMatch OMIM:231080 german syndrome semapv:UnspecifiedMatching +MONDO:0009273 skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:UnspecifiedMatching +MONDO:0009274 skos:exactMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0009275 skos:exactMatch OMIM:231100 hemochromatosis, neonatal semapv:UnspecifiedMatching +MONDO:0009276 skos:exactMatch OMIM:231200 bernard-soulier syndrome semapv:UnspecifiedMatching +MONDO:0009277 skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:UnspecifiedMatching +MONDO:0009279 skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:UnspecifiedMatching +MONDO:0009280 skos:exactMatch OMIM:231630 monosodium glutamate sensitivity semapv:UnspecifiedMatching +MONDO:0009281 skos:exactMatch OMIM:231670 glutaric acidemia 1 semapv:UnspecifiedMatching +MONDO:0009282 skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0009283 skos:exactMatch OMIM:231690 glutaric aciduria 3 semapv:UnspecifiedMatching +MONDO:0009284 skos:exactMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0009285 skos:exactMatch OMIM:231950 glutathionuria semapv:UnspecifiedMatching +MONDO:0009286 skos:exactMatch OMIM:231970 gluteal muscles, absence of semapv:UnspecifiedMatching +MONDO:0009287 skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:UnspecifiedMatching +MONDO:0009288 skos:exactMatch OMIM:232220 glycogen storage disease ib semapv:UnspecifiedMatching +MONDO:0009288 skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:UnspecifiedMatching +MONDO:0009290 skos:exactMatch OMIM:232300 glycogen storage disease 2 semapv:UnspecifiedMatching +MONDO:0009291 skos:exactMatch OMIM:232400 glycogen storage disease 3 semapv:UnspecifiedMatching +MONDO:0009292 skos:exactMatch OMIM:232500 glycogen storage disease 4 semapv:UnspecifiedMatching +MONDO:0009293 skos:exactMatch OMIM:232600 glycogen storage disease 5 semapv:UnspecifiedMatching +MONDO:0009294 skos:exactMatch OMIM:232700 glycogen storage disease 6 semapv:UnspecifiedMatching +MONDO:0009295 skos:exactMatch OMIM:232800 glycogen storage disease 7 semapv:UnspecifiedMatching +MONDO:0009296 skos:exactMatch OMIM:232900 glycoprotein storage disease semapv:UnspecifiedMatching +MONDO:0009297 skos:exactMatch OMIM:233100 renal glucosuria semapv:UnspecifiedMatching +MONDO:0009298 skos:exactMatch OMIM:233270 gombo syndrome semapv:UnspecifiedMatching +MONDO:0009299 skos:exactMatch omim.ps:233300 Ovarian dysgenesis semapv:UnspecifiedMatching +MONDO:0009300 skos:exactMatch OMIM:233400 perrault syndrome 1 semapv:UnspecifiedMatching +MONDO:0009301 skos:exactMatch OMIM:233420 46,xy sex reversal 7 semapv:UnspecifiedMatching +MONDO:0009303 skos:exactMatch OMIM:233450 goodpasture syndrome semapv:UnspecifiedMatching +MONDO:0009305 skos:exactMatch OMIM:233600 immunodeficiency 59 and hypoglycemia semapv:UnspecifiedMatching +MONDO:0009306 skos:exactMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:UnspecifiedMatching +MONDO:0009308 skos:exactMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:UnspecifiedMatching +MONDO:0009309 skos:exactMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:UnspecifiedMatching +MONDO:0009310 skos:exactMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:UnspecifiedMatching +MONDO:0009311 skos:exactMatch OMIM:233800 grouped pigmentation of the retina semapv:UnspecifiedMatching +MONDO:0009312 skos:exactMatch OMIM:233805 growth factors, combined defect of semapv:UnspecifiedMatching +MONDO:0009313 skos:exactMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:UnspecifiedMatching +MONDO:0009315 skos:exactMatch OMIM:234000 factor 12 deficiency semapv:UnspecifiedMatching +MONDO:0009318 skos:exactMatch OMIM:234100 hallermann-streiff syndrome semapv:UnspecifiedMatching +MONDO:0009319 skos:exactMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:UnspecifiedMatching +MONDO:0009320 skos:exactMatch OMIM:234250 hall-riggs syndrome semapv:UnspecifiedMatching +MONDO:0009321 skos:exactMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:UnspecifiedMatching +MONDO:0009322 skos:exactMatch OMIM:234300 halo nevi semapv:UnspecifiedMatching +MONDO:0009323 skos:exactMatch OMIM:234350 halothane hepatitis semapv:UnspecifiedMatching +MONDO:0009324 skos:exactMatch OMIM:234500 hartnup disorder semapv:UnspecifiedMatching +MONDO:0009326 skos:exactMatch OMIM:234700 heart block, congenital semapv:UnspecifiedMatching +MONDO:0009327 skos:exactMatch OMIM:140500 heart, malformation of semapv:UnspecifiedMatching +MONDO:0009327 skos:exactMatch OMIM:234750 heart, malformation of semapv:UnspecifiedMatching +MONDO:0009328 skos:exactMatch OMIM:234800 hemangiomatosis, cutaneous, with associated features semapv:UnspecifiedMatching +MONDO:0009329 skos:exactMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009330 skos:exactMatch OMIM:234820 hemangiopericytoma, malignant semapv:UnspecifiedMatching +MONDO:0009331 skos:exactMatch OMIM:235000 hemihyperplasia, isolated semapv:UnspecifiedMatching +MONDO:0009333 skos:exactMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:UnspecifiedMatching +MONDO:0009334 skos:exactMatch OMIM:235370 hemolytic anemia with thermal sensitivity of red cells semapv:UnspecifiedMatching +MONDO:0009335 skos:exactMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0009336 skos:exactMatch OMIM:235500 hemosiderosis, pulmonary, with deficiency of gamma-a globulin semapv:UnspecifiedMatching +MONDO:0009337 skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:UnspecifiedMatching +MONDO:0009338 skos:exactMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:UnspecifiedMatching +MONDO:0009339 skos:exactMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:UnspecifiedMatching +MONDO:0009340 skos:exactMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:UnspecifiedMatching +MONDO:0009341 skos:exactMatch OMIM:235730 mowat-wilson syndrome semapv:UnspecifiedMatching +MONDO:0009342 skos:exactMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:UnspecifiedMatching +MONDO:0009343 skos:exactMatch OMIM:235750 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect semapv:UnspecifiedMatching +MONDO:0009344 skos:exactMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:UnspecifiedMatching +MONDO:0009345 skos:exactMatch OMIM:235800 histidinemia semapv:UnspecifiedMatching +MONDO:0009346 skos:exactMatch OMIM:235830 histidinuria due to a renal tubular defect semapv:UnspecifiedMatching +MONDO:0009347 skos:exactMatch OMIM:235900 histiocytosis, familial lipochrome semapv:UnspecifiedMatching +MONDO:0009348 skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:UnspecifiedMatching +MONDO:0009349 skos:exactMatch OMIM:236100 holoprosencephaly 1 semapv:UnspecifiedMatching +MONDO:0009350 skos:exactMatch OMIM:236110 holzgreve syndrome semapv:UnspecifiedMatching +MONDO:0009351 skos:exactMatch OMIM:236130 homocarnosinosis semapv:UnspecifiedMatching +MONDO:0009352 skos:exactMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:UnspecifiedMatching +MONDO:0009353 skos:exactMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:UnspecifiedMatching +MONDO:0009354 skos:exactMatch OMIM:236270 homocystinuria-megaloblastic anemia, cble complementation iia semapv:UnspecifiedMatching +MONDO:0009355 skos:exactMatch OMIM:236300 hooft disease semapv:UnspecifiedMatching +MONDO:0009356 skos:exactMatch OMIM:236400 humeroradial synostosis semapv:UnspecifiedMatching +MONDO:0009357 skos:exactMatch OMIM:236410 humeroradial synostosis with craniofacial anomalies semapv:UnspecifiedMatching +MONDO:0009358 skos:exactMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:UnspecifiedMatching +MONDO:0009359 skos:exactMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:UnspecifiedMatching +MONDO:0009360 skos:exactMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:UnspecifiedMatching +MONDO:0009361 skos:exactMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:UnspecifiedMatching +MONDO:0009362 skos:exactMatch OMIM:236640 hydrocephalus with associated malformations semapv:UnspecifiedMatching +MONDO:0009363 skos:exactMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:UnspecifiedMatching +MONDO:0009364 skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:UnspecifiedMatching +MONDO:0009365 skos:exactMatch OMIM:236680 hydrolethalus syndrome 1 semapv:UnspecifiedMatching +MONDO:0009366 skos:exactMatch OMIM:236690 hydrocephalus, normal-pressure, 1 semapv:UnspecifiedMatching +MONDO:0009367 skos:exactMatch OMIM:236700 mckusick-kaufman syndrome semapv:UnspecifiedMatching +MONDO:0009368 skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:UnspecifiedMatching +MONDO:0009369 skos:exactMatch OMIM:236750 hydrops fetalis, nonimmune semapv:UnspecifiedMatching +MONDO:0009370 skos:exactMatch OMIM:236792 l-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching +MONDO:0009371 skos:exactMatch OMIM:236795 3-hydroxyisobutyric aciduria semapv:UnspecifiedMatching +MONDO:0009372 skos:exactMatch OMIM:236800 hydroxykynureninuria semapv:UnspecifiedMatching +MONDO:0009373 skos:exactMatch OMIM:236900 hydroxylysinuria semapv:UnspecifiedMatching +MONDO:0009374 skos:exactMatch OMIM:237000 hydroxyprolinemia semapv:UnspecifiedMatching +MONDO:0009375 skos:exactMatch OMIM:237100 hymen, imperforate semapv:UnspecifiedMatching +MONDO:0009376 skos:exactMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:UnspecifiedMatching +MONDO:0009377 skos:exactMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:UnspecifiedMatching +MONDO:0009378 skos:exactMatch OMIM:237400 hyper-beta-alaninemia semapv:UnspecifiedMatching +MONDO:0009379 skos:exactMatch OMIM:237450 hyperbilirubinemia, rotor iia semapv:UnspecifiedMatching +MONDO:0009380 skos:exactMatch OMIM:237500 dubin-johnson syndrome semapv:UnspecifiedMatching +MONDO:0009381 skos:exactMatch OMIM:237550 hyperbilirubinemia, conjugated, iia 3 semapv:UnspecifiedMatching +MONDO:0009382 skos:exactMatch OMIM:237800 hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching +MONDO:0009383 skos:exactMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:UnspecifiedMatching +MONDO:0009384 skos:exactMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:UnspecifiedMatching +MONDO:0009385 skos:exactMatch OMIM:238340 hyperleucine-isoleucinemia semapv:UnspecifiedMatching +MONDO:0009386 skos:exactMatch OMIM:238350 hyperlexia semapv:UnspecifiedMatching +MONDO:0009387 skos:exactMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:UnspecifiedMatching +MONDO:0009388 skos:exactMatch OMIM:238700 hyperlysinemia, iia 1 semapv:UnspecifiedMatching +MONDO:0009389 skos:exactMatch OMIM:238710 hyperlysinemia due to defect 1n lysine transport into mitochondria semapv:UnspecifiedMatching +MONDO:0009390 skos:exactMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:UnspecifiedMatching +MONDO:0009391 skos:exactMatch OMIM:238800 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 semapv:UnspecifiedMatching +MONDO:0009392 skos:exactMatch OMIM:238950 hyperopia, high semapv:UnspecifiedMatching +MONDO:0009393 skos:exactMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:UnspecifiedMatching +MONDO:0009394 skos:exactMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:UnspecifiedMatching +MONDO:0009395 skos:exactMatch OMIM:239100 van buchem disease semapv:UnspecifiedMatching +MONDO:0009396 skos:exactMatch OMIM:239199 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria semapv:UnspecifiedMatching +MONDO:0009397 skos:exactMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:UnspecifiedMatching +MONDO:0009398 skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:UnspecifiedMatching +MONDO:0009399 skos:exactMatch OMIM:239350 hyperphosphatemia, polyuria, and seizures semapv:UnspecifiedMatching +MONDO:0009400 skos:exactMatch OMIM:239500 hyperprolinemia, iia 1 semapv:UnspecifiedMatching +MONDO:0009401 skos:exactMatch OMIM:239510 hyperprolinemia, iia 2 semapv:UnspecifiedMatching +MONDO:0009402 skos:exactMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:UnspecifiedMatching +MONDO:0009403 skos:exactMatch OMIM:239711 hypertelorism and tetralogy of fallot semapv:UnspecifiedMatching +MONDO:0009404 skos:exactMatch OMIM:239800 hypertelorism, microtia, facial clefting syndrome semapv:UnspecifiedMatching +MONDO:0009405 skos:exactMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:UnspecifiedMatching +MONDO:0009406 skos:exactMatch OMIM:239850 cantu syndrome semapv:UnspecifiedMatching +MONDO:0009407 skos:exactMatch OMIM:239900 hypertrophic neuropathy and cataract semapv:UnspecifiedMatching +MONDO:0009408 skos:exactMatch OMIM:240000 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase semapv:UnspecifiedMatching +MONDO:0009409 skos:exactMatch OMIM:240150 hypervitaminosis a, susceptibility to semapv:UnspecifiedMatching +MONDO:0009411 skos:exactMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0009412 skos:exactMatch OMIM:240400 hypoascorbemia semapv:UnspecifiedMatching +MONDO:0009413 skos:exactMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:UnspecifiedMatching +MONDO:0009414 skos:exactMatch OMIM:240600 glycogen storage disease 0, liver semapv:UnspecifiedMatching +MONDO:0009415 skos:exactMatch OMIM:240800 hypoglycemia, leucine-induced semapv:UnspecifiedMatching +MONDO:0009416 skos:exactMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:UnspecifiedMatching +MONDO:0009417 skos:exactMatch OMIM:240950 hypogonadism-cataract syndrome semapv:UnspecifiedMatching +MONDO:0009418 skos:exactMatch OMIM:241000 hypogonadism with low-grade mental deficiency and microcephaly semapv:UnspecifiedMatching +MONDO:0009419 skos:exactMatch OMIM:241080 woodhouse-sakati syndrome semapv:UnspecifiedMatching +MONDO:0009420 skos:exactMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:UnspecifiedMatching +MONDO:0009421 skos:exactMatch OMIM:241100 hypogonadism, male semapv:UnspecifiedMatching +MONDO:0009422 skos:exactMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:UnspecifiedMatching +MONDO:0009423 skos:exactMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:UnspecifiedMatching +MONDO:0009424 skos:exactMatch OMIM:241200 bartter syndrome, iia 2, antenatal semapv:UnspecifiedMatching +MONDO:0009425 skos:exactMatch OMIM:241310 hypomandibular faciocranial dysostosis semapv:UnspecifiedMatching +MONDO:0009426 skos:exactMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:UnspecifiedMatching +MONDO:0009427 skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:UnspecifiedMatching +MONDO:0009428 skos:exactMatch OMIM:241510 hypophosphatasia, childhood semapv:UnspecifiedMatching +MONDO:0009429 skos:exactMatch OMIM:241519 hypophosphatemia, renal, with intracerebral calcifications semapv:UnspecifiedMatching +MONDO:0009430 skos:exactMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:UnspecifiedMatching +MONDO:0009431 skos:exactMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:UnspecifiedMatching +MONDO:0009432 skos:exactMatch OMIM:241540 hypopituitarism, congenital, with central diabetes insipidus semapv:UnspecifiedMatching +MONDO:0009433 skos:exactMatch OMIM:241550 hypoplastic left heart syndrome 1 semapv:UnspecifiedMatching +MONDO:0009434 skos:exactMatch OMIM:241600 immunodeficiency 43 semapv:UnspecifiedMatching +MONDO:0009435 skos:exactMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0009436 skos:exactMatch OMIM:241800 pallister-hall-like syndrome semapv:UnspecifiedMatching +MONDO:0009437 skos:exactMatch OMIM:241850 bamforth-lazarus syndrome semapv:UnspecifiedMatching +MONDO:0009438 skos:exactMatch OMIM:242050 hypouricemia, hypercalcinuria, and decreased bone density semapv:UnspecifiedMatching +MONDO:0009439 skos:exactMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0009440 skos:exactMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009441 skos:exactMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0009442 skos:exactMatch OMIM:242400 ichthyosis congenita with biliary atresia semapv:UnspecifiedMatching +MONDO:0009443 skos:exactMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:UnspecifiedMatching +MONDO:0009444 skos:exactMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:UnspecifiedMatching +MONDO:0009445 skos:exactMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:UnspecifiedMatching +MONDO:0009446 skos:exactMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:UnspecifiedMatching +MONDO:0009447 skos:exactMatch OMIM:242550 ichthyosis, split hairs, and amino aciduria semapv:UnspecifiedMatching +MONDO:0009448 skos:exactMatch OMIM:242600 iminoglycinuria semapv:UnspecifiedMatching +MONDO:0009449 skos:exactMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:UnspecifiedMatching +MONDO:0009450 skos:exactMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:UnspecifiedMatching +MONDO:0009451 skos:exactMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:UnspecifiedMatching +MONDO:0009452 skos:exactMatch OMIM:242840 vici syndrome semapv:UnspecifiedMatching +MONDO:0009453 skos:exactMatch OMIM:242850 immune deficiency disease semapv:UnspecifiedMatching +MONDO:0009454 skos:exactMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:UnspecifiedMatching +MONDO:0009455 skos:exactMatch OMIM:242870 immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes semapv:UnspecifiedMatching +MONDO:0009456 skos:exactMatch OMIM:242880 immunoerythromyeloid hypoplasia semapv:UnspecifiedMatching +MONDO:0009457 skos:exactMatch OMIM:242890 immunoglobulin d level 1n plasma, low semapv:UnspecifiedMatching +MONDO:0009458 skos:exactMatch OMIM:242900 schimke immunoosseous dysplasia semapv:UnspecifiedMatching +MONDO:0009459 skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009460 skos:exactMatch OMIM:243050 indolylacroyl glycinuria with mental retardation semapv:UnspecifiedMatching +MONDO:0009461 skos:exactMatch OMIM:243060 spermatogenic failure 5 semapv:UnspecifiedMatching +MONDO:0009462 skos:exactMatch OMIM:243080 inosine phosphorylase deficiency, immune defect due to semapv:UnspecifiedMatching +MONDO:0009463 skos:exactMatch OMIM:243100 internal carotid arteries, hypoplasia of semapv:UnspecifiedMatching +MONDO:0009464 skos:exactMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:UnspecifiedMatching +MONDO:0009467 skos:exactMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:UnspecifiedMatching +MONDO:0009468 skos:exactMatch OMIM:243200 intracranial hypertension, idiopathic semapv:UnspecifiedMatching +MONDO:0009469 skos:exactMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:UnspecifiedMatching +MONDO:0009470 skos:exactMatch OMIM:243310 baraitser-winter syndrome 1 semapv:UnspecifiedMatching +MONDO:0009471 skos:exactMatch OMIM:243320 intrinsic factor and r binder, combined congenital deficiency of semapv:UnspecifiedMatching +MONDO:0009472 skos:exactMatch OMIM:243400 acetylation, slow semapv:UnspecifiedMatching +MONDO:0009473 skos:exactMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:UnspecifiedMatching +MONDO:0009474 skos:exactMatch OMIM:243450 isovaleric acid, inability to smell semapv:UnspecifiedMatching +MONDO:0009475 skos:exactMatch OMIM:243500 isovaleric acidemia semapv:UnspecifiedMatching +MONDO:0009476 skos:exactMatch OMIM:243600 jejunal atresia semapv:UnspecifiedMatching +MONDO:0009477 skos:exactMatch OMIM:243605 stromme syndrome semapv:UnspecifiedMatching +MONDO:0009478 skos:exactMatch OMIM:243700 hyper-ige syndrome 2, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching +MONDO:0009479 skos:exactMatch OMIM:243800 johanson-blizzard syndrome semapv:UnspecifiedMatching +MONDO:0009480 skos:exactMatch OMIM:243910 arima syndrome semapv:UnspecifiedMatching +MONDO:0009481 skos:exactMatch OMIM:244100 jumping frenchmen of maine semapv:UnspecifiedMatching +MONDO:0009482 skos:exactMatch OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia semapv:UnspecifiedMatching +MONDO:0009483 skos:exactMatch OMIM:244300 kapur-toriello syndrome semapv:UnspecifiedMatching +MONDO:0009484 skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:UnspecifiedMatching +MONDO:0009485 skos:exactMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:UnspecifiedMatching +MONDO:0009486 skos:exactMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0009487 skos:exactMatch OMIM:244510 keratoconus and congenital hip dysplasia semapv:UnspecifiedMatching +MONDO:0009488 skos:exactMatch OMIM:244600 keratoconus posticus circumscriptus semapv:UnspecifiedMatching +MONDO:0009489 skos:exactMatch OMIM:244850 palmoplantar keratoderma, norrbotten recessive iia semapv:UnspecifiedMatching +MONDO:0009490 skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:UnspecifiedMatching +MONDO:0009491 skos:exactMatch OMIM:245010 haim-munk syndrome semapv:UnspecifiedMatching +MONDO:0009492 skos:exactMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:UnspecifiedMatching +MONDO:0009493 skos:exactMatch OMIM:245100 richards-rundle syndrome semapv:UnspecifiedMatching +MONDO:0009495 skos:exactMatch OMIM:245150 keutel syndrome semapv:UnspecifiedMatching +MONDO:0009496 skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:UnspecifiedMatching +MONDO:0009497 skos:exactMatch OMIM:245180 kifafa seizure disorder semapv:UnspecifiedMatching +MONDO:0009498 skos:exactMatch OMIM:245190 kniest-like dysplasia, lethal semapv:UnspecifiedMatching +MONDO:0009499 skos:exactMatch OMIM:245200 krabbe disease semapv:UnspecifiedMatching +MONDO:0009500 skos:exactMatch OMIM:245300 kuru, susceptibility to semapv:UnspecifiedMatching +MONDO:0009501 skos:exactMatch OMIM:245340 erythrocyte lactate transporter defect semapv:UnspecifiedMatching +MONDO:0009502 skos:exactMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:UnspecifiedMatching +MONDO:0009503 skos:exactMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:UnspecifiedMatching +MONDO:0009504 skos:exactMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:UnspecifiedMatching +MONDO:0009505 skos:exactMatch OMIM:245450 d-lactic aciduria with gout semapv:UnspecifiedMatching +MONDO:0009506 skos:exactMatch omim.ps:245480 Specific granule deficiency semapv:UnspecifiedMatching +MONDO:0009507 skos:exactMatch OMIM:245550 lambert syndrome semapv:UnspecifiedMatching +MONDO:0009508 skos:exactMatch OMIM:245552 lambotte syndrome semapv:UnspecifiedMatching +MONDO:0009509 skos:exactMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:UnspecifiedMatching +MONDO:0009511 skos:exactMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:UnspecifiedMatching +MONDO:0009512 skos:exactMatch OMIM:245650 larsen-like syndrome, lethal iia semapv:UnspecifiedMatching +MONDO:0009513 skos:exactMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:UnspecifiedMatching +MONDO:0009514 skos:exactMatch OMIM:245800 laurence-moon syndrome semapv:UnspecifiedMatching +MONDO:0009515 skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:UnspecifiedMatching +MONDO:0009516 skos:exactMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:UnspecifiedMatching +MONDO:0009517 skos:exactMatch OMIM:246200 donohue syndrome semapv:UnspecifiedMatching +MONDO:0009518 skos:exactMatch OMIM:246300 leprosy, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0009519 skos:exactMatch OMIM:246400 letterer-siwe disease semapv:UnspecifiedMatching +MONDO:0009520 skos:exactMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:UnspecifiedMatching +MONDO:0009521 skos:exactMatch OMIM:246470 leukemia, acute myelocytic, with polyposis coli and colon cancer semapv:UnspecifiedMatching +MONDO:0009522 skos:exactMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:UnspecifiedMatching +MONDO:0009523 skos:exactMatch OMIM:246550 lichtenstein syndrome semapv:UnspecifiedMatching +MONDO:0009524 skos:exactMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:UnspecifiedMatching +MONDO:0009525 skos:exactMatch OMIM:246560 split-hand/foot malformation 3 semapv:UnspecifiedMatching +MONDO:0009526 skos:exactMatch OMIM:246570 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome semapv:UnspecifiedMatching +MONDO:0009527 skos:exactMatch OMIM:246650 lipase deficiency, combined semapv:UnspecifiedMatching +MONDO:0009528 skos:exactMatch OMIM:246700 chylomicron retention disease semapv:UnspecifiedMatching +MONDO:0009529 skos:exactMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0009530 skos:exactMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:UnspecifiedMatching +MONDO:0009531 skos:exactMatch OMIM:247150 lip prints semapv:UnspecifiedMatching +MONDO:0009532 skos:exactMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:UnspecifiedMatching +MONDO:0009533 skos:exactMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:UnspecifiedMatching +MONDO:0009534 skos:exactMatch OMIM:247430 lymphoblastic transformation, inhibition of semapv:UnspecifiedMatching +MONDO:0009535 skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching +MONDO:0009536 skos:exactMatch OMIM:247450 lymphoblastic transformation, intrinsic defect 1n semapv:UnspecifiedMatching +MONDO:0009537 skos:exactMatch OMIM:247610 lymphoid interstitial pneumonia semapv:UnspecifiedMatching +MONDO:0009538 skos:exactMatch OMIM:247630 lymphoid system deterioration, progressive semapv:UnspecifiedMatching +MONDO:0009539 skos:exactMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:UnspecifiedMatching +MONDO:0009540 skos:exactMatch OMIM:247650 lymphokine deficiency semapv:UnspecifiedMatching +MONDO:0009541 skos:exactMatch OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis semapv:UnspecifiedMatching +MONDO:0009542 skos:exactMatch OMIM:247950 lysine malabsorption syndrome semapv:UnspecifiedMatching +MONDO:0009543 skos:exactMatch OMIM:247990 macdermot-winter syndrome semapv:UnspecifiedMatching +MONDO:0009544 skos:exactMatch OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009545 skos:exactMatch OMIM:248010 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance semapv:UnspecifiedMatching +MONDO:0009546 skos:exactMatch OMIM:248100 macrosomia adiposa congenita semapv:UnspecifiedMatching +MONDO:0009547 skos:exactMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:UnspecifiedMatching +MONDO:0009548 skos:exactMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:UnspecifiedMatching +MONDO:0009549 skos:exactMatch OMIM:248200 stargardt disease 1 semapv:UnspecifiedMatching +MONDO:0009550 skos:exactMatch OMIM:248250 hypomagnesemia 3, renal semapv:UnspecifiedMatching +MONDO:0009551 skos:exactMatch OMIM:248260 magnesium, elevated red cell semapv:UnspecifiedMatching +MONDO:0009552 skos:exactMatch OMIM:248300 mal lange meleda semapv:UnspecifiedMatching +MONDO:0009553 skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching +MONDO:0009554 skos:exactMatch OMIM:248340 3mc syndrome 3 semapv:UnspecifiedMatching +MONDO:0009555 skos:exactMatch OMIM:248350 malocclusion and short stature semapv:UnspecifiedMatching +MONDO:0009556 skos:exactMatch OMIM:248360 malonyl-coa decarboxylase deficiency semapv:UnspecifiedMatching +MONDO:0009557 skos:exactMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:UnspecifiedMatching +MONDO:0009558 skos:exactMatch OMIM:248390 treacher collins syndrome 3 semapv:UnspecifiedMatching +MONDO:0009559 skos:exactMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:UnspecifiedMatching +MONDO:0009560 skos:exactMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:UnspecifiedMatching +MONDO:0009561 skos:exactMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:UnspecifiedMatching +MONDO:0009562 skos:exactMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:UnspecifiedMatching +MONDO:0009563 skos:exactMatch OMIM:248600 maple syrup urine disease semapv:UnspecifiedMatching +MONDO:0009563 skos:exactMatch omim.ps:248600 Maple syrup urine disease semapv:UnspecifiedMatching +MONDO:0009564 skos:exactMatch OMIM:248700 marden-walker syndrome semapv:UnspecifiedMatching +MONDO:0009565 skos:exactMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:UnspecifiedMatching +MONDO:0009566 skos:exactMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:UnspecifiedMatching +MONDO:0009567 skos:exactMatch OMIM:248800 marinesco-sjogren syndrome semapv:UnspecifiedMatching +MONDO:0009568 skos:exactMatch OMIM:248900 mast syndrome semapv:UnspecifiedMatching +MONDO:0009569 skos:exactMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:UnspecifiedMatching +MONDO:0009570 skos:exactMatch OMIM:248950 mcdonough syndrome semapv:UnspecifiedMatching +MONDO:0009571 skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0009572 skos:exactMatch OMIM:249100 familial mediterranean fever semapv:UnspecifiedMatching +MONDO:0009573 skos:exactMatch OMIM:249230 megaepiphyseal dwarfism semapv:UnspecifiedMatching +MONDO:0009574 skos:exactMatch OMIM:249240 megalencephaly with dysmyelination semapv:UnspecifiedMatching +MONDO:0009575 skos:exactMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching +MONDO:0009576 skos:exactMatch OMIM:249300 megalocornea semapv:UnspecifiedMatching +MONDO:0009577 skos:exactMatch OMIM:249310 neuhauser syndrome semapv:UnspecifiedMatching +MONDO:0009578 skos:exactMatch OMIM:249400 melanosis, neurocutaneous semapv:UnspecifiedMatching +MONDO:0009579 skos:exactMatch OMIM:249420 frank-ter haar syndrome semapv:UnspecifiedMatching +MONDO:0009580 skos:exactMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0009581 skos:exactMatch OMIM:249599 mental retardation syndrome, belgian iia semapv:UnspecifiedMatching +MONDO:0009582 skos:exactMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:UnspecifiedMatching +MONDO:0009583 skos:exactMatch OMIM:249620 ohdo syndrome semapv:UnspecifiedMatching +MONDO:0009584 skos:exactMatch OMIM:249630 mental retardation, buenos aires iia semapv:UnspecifiedMatching +MONDO:0009585 skos:exactMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:UnspecifiedMatching +MONDO:0009586 skos:exactMatch OMIM:249660 mesangial sclerosis, diffuse renal, with ocular abnormalities semapv:UnspecifiedMatching +MONDO:0009587 skos:exactMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:UnspecifiedMatching +MONDO:0009588 skos:exactMatch OMIM:249700 langer mesomelic dysplasia semapv:UnspecifiedMatching +MONDO:0009589 skos:exactMatch OMIM:249710 mesomelic limb shortening and bowing semapv:UnspecifiedMatching +MONDO:0009590 skos:exactMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:UnspecifiedMatching +MONDO:0009591 skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:UnspecifiedMatching +MONDO:0009592 skos:exactMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:UnspecifiedMatching +MONDO:0009593 skos:exactMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:UnspecifiedMatching +MONDO:0009594 skos:exactMatch OMIM:250230 metaphyseal chondrodysplasia, kaitila iia semapv:UnspecifiedMatching +MONDO:0009595 skos:exactMatch OMIM:250250 cartilage-hair hypoplasia semapv:UnspecifiedMatching +MONDO:0009596 skos:exactMatch OMIM:250300 metaphyseal chondrodysplasia, pena iia semapv:UnspecifiedMatching +MONDO:0009597 skos:exactMatch OMIM:250400 metaphyseal dysplasia, spahr iia semapv:UnspecifiedMatching +MONDO:0009598 skos:exactMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:UnspecifiedMatching +MONDO:0009599 skos:exactMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:UnspecifiedMatching +MONDO:0009600 skos:exactMatch OMIM:250450 metaphyseal dysplasia, anetoderma, and optic atrophy semapv:UnspecifiedMatching +MONDO:0009601 skos:exactMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:UnspecifiedMatching +MONDO:0009602 skos:exactMatch OMIM:250500 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia semapv:UnspecifiedMatching +MONDO:0009603 skos:exactMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:UnspecifiedMatching +MONDO:0009604 skos:exactMatch OMIM:250700 methemoglobin reductase deficiency semapv:UnspecifiedMatching +MONDO:0009605 skos:exactMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:UnspecifiedMatching +MONDO:0009606 skos:exactMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:UnspecifiedMatching +MONDO:0009607 skos:exactMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:UnspecifiedMatching +MONDO:0009608 skos:exactMatch OMIM:250900 methionine malabsorption syndrome semapv:UnspecifiedMatching +MONDO:0009609 skos:exactMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:UnspecifiedMatching +MONDO:0009610 skos:exactMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:UnspecifiedMatching +MONDO:0009611 skos:exactMatch OMIM:250951 3-methylglutaconic aciduria, iia 4 semapv:UnspecifiedMatching +MONDO:0009612 skos:exactMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:UnspecifiedMatching +MONDO:0009613 skos:exactMatch OMIM:251100 methylmalonic aciduria, cbla iia semapv:UnspecifiedMatching +MONDO:0009614 skos:exactMatch OMIM:251110 methylmalonic aciduria, cblb iia semapv:UnspecifiedMatching +MONDO:0009615 skos:exactMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:UnspecifiedMatching +MONDO:0009616 skos:exactMatch OMIM:251190 microcephalic primordial dwarfism, toriello iia semapv:UnspecifiedMatching +MONDO:0009617 skos:exactMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009618 skos:exactMatch OMIM:251220 microcephaly-cardiomyopathy semapv:UnspecifiedMatching +MONDO:0009619 skos:exactMatch OMIM:251230 microcephaly-micromelia syndrome semapv:UnspecifiedMatching +MONDO:0009620 skos:exactMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:UnspecifiedMatching +MONDO:0009621 skos:exactMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:UnspecifiedMatching +MONDO:0009622 skos:exactMatch OMIM:251255 jawad syndrome semapv:UnspecifiedMatching +MONDO:0009623 skos:exactMatch OMIM:251260 nijmegen breakage syndrome semapv:UnspecifiedMatching +MONDO:0009624 skos:exactMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:UnspecifiedMatching +MONDO:0009625 skos:exactMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:UnspecifiedMatching +MONDO:0009626 skos:exactMatch omim.ps:251290 Pseudo-TORCH syndrome semapv:UnspecifiedMatching +MONDO:0009627 skos:exactMatch omim.ps:251300 Galloway-Mowat syndrome semapv:UnspecifiedMatching +MONDO:0009628 skos:exactMatch OMIM:251400 microcolon semapv:UnspecifiedMatching +MONDO:0009629 skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:UnspecifiedMatching +MONDO:0009630 skos:exactMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:UnspecifiedMatching +MONDO:0009631 skos:exactMatch OMIM:251600 microphthalmia, isolated 1 semapv:UnspecifiedMatching +MONDO:0009632 skos:exactMatch OMIM:251700 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies semapv:UnspecifiedMatching +MONDO:0009633 skos:exactMatch OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:UnspecifiedMatching +MONDO:0009634 skos:exactMatch OMIM:251800 microtia with meatal atresia and conductive deafness semapv:UnspecifiedMatching +MONDO:0009635 skos:exactMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:UnspecifiedMatching +MONDO:0009636 skos:exactMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:UnspecifiedMatching +MONDO:0009638 skos:exactMatch OMIM:251945 mitochondrial myopathy with a defect 1n mitochondrial-protein transport semapv:UnspecifiedMatching +MONDO:0009642 skos:exactMatch OMIM:252100 mohr syndrome semapv:UnspecifiedMatching +MONDO:0009643 skos:exactMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:UnspecifiedMatching +MONDO:0009644 skos:exactMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:UnspecifiedMatching +MONDO:0009645 skos:exactMatch OMIM:252250 monocyte chemotactic disorder semapv:UnspecifiedMatching +MONDO:0009646 skos:exactMatch OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 semapv:UnspecifiedMatching +MONDO:0009647 skos:exactMatch OMIM:252300 morquio syndrome c semapv:UnspecifiedMatching +MONDO:0009648 skos:exactMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:UnspecifiedMatching +MONDO:0009649 skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:UnspecifiedMatching +MONDO:0009650 skos:exactMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:UnspecifiedMatching +MONDO:0009652 skos:exactMatch OMIM:252605 mucolipidosis 3 gamma semapv:UnspecifiedMatching +MONDO:0009653 skos:exactMatch OMIM:252650 mucolipidosis 4 semapv:UnspecifiedMatching +MONDO:0009654 skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching +MONDO:0009655 skos:exactMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:UnspecifiedMatching +MONDO:0009656 skos:exactMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:UnspecifiedMatching +MONDO:0009657 skos:exactMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:UnspecifiedMatching +MONDO:0009658 skos:exactMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:UnspecifiedMatching +MONDO:0009659 skos:exactMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:UnspecifiedMatching +MONDO:0009660 skos:exactMatch OMIM:253010 mucopolysaccharidosis, iia 4b semapv:UnspecifiedMatching +MONDO:0009661 skos:exactMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:UnspecifiedMatching +MONDO:0009662 skos:exactMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:UnspecifiedMatching +MONDO:0009663 skos:exactMatch OMIM:253240 mucus inspissation of respiratory tract semapv:UnspecifiedMatching +MONDO:0009664 skos:exactMatch OMIM:253250 mulibrey nanism semapv:UnspecifiedMatching +MONDO:0009665 skos:exactMatch OMIM:253260 biotinidase deficiency semapv:UnspecifiedMatching +MONDO:0009666 skos:exactMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:UnspecifiedMatching +MONDO:0009667 skos:exactMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:UnspecifiedMatching +MONDO:0009668 skos:exactMatch OMIM:253290 multiple pterygium syndrome, lethal iia semapv:UnspecifiedMatching +MONDO:0009669 skos:exactMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:UnspecifiedMatching +MONDO:0009670 skos:exactMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:UnspecifiedMatching +MONDO:0009671 skos:exactMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0009672 skos:exactMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:UnspecifiedMatching +MONDO:0009673 skos:exactMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:UnspecifiedMatching +MONDO:0009674 skos:exactMatch OMIM:253590 muscular dystrophy, adult-onset, with leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0009675 skos:exactMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0009676 skos:exactMatch OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0009677 skos:exactMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0009678 skos:exactMatch OMIM:253800 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 4 semapv:UnspecifiedMatching +MONDO:0009680 skos:exactMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:UnspecifiedMatching +MONDO:0009681 skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:UnspecifiedMatching +MONDO:0009682 skos:exactMatch OMIM:254100 muscular dystrophy, congenital, with rapid progression semapv:UnspecifiedMatching +MONDO:0009683 skos:exactMatch OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0009684 skos:exactMatch OMIM:254120 muscular hypertonia, lethal semapv:UnspecifiedMatching +MONDO:0009685 skos:exactMatch omim.ps:254130 Miyoshi muscular dystrophy semapv:UnspecifiedMatching +MONDO:0009686 skos:exactMatch OMIM:254150 musk, inability to smell semapv:UnspecifiedMatching +MONDO:0009687 skos:exactMatch OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors semapv:UnspecifiedMatching +MONDO:0009688 skos:exactMatch OMIM:254200 myasthenia gravis semapv:UnspecifiedMatching +MONDO:0009689 skos:exactMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:UnspecifiedMatching +MONDO:0009690 skos:exactMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:UnspecifiedMatching +MONDO:0009691 skos:exactMatch OMIM:254400 mycosis fungoides semapv:UnspecifiedMatching +MONDO:0009692 skos:exactMatch OMIM:254450 myelofibrosis semapv:UnspecifiedMatching +MONDO:0009693 skos:exactMatch OMIM:254500 myeloma, multiple semapv:UnspecifiedMatching +MONDO:0009694 skos:exactMatch OMIM:254600 myeloperoxidase deficiency semapv:UnspecifiedMatching +MONDO:0009695 skos:exactMatch OMIM:254700 myeloproliferative disease, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009696 skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:UnspecifiedMatching +MONDO:0009696 skos:exactMatch omim.ps:254770 Epilepsy, myoclonic juvenile semapv:UnspecifiedMatching +MONDO:0009697 skos:exactMatch omim.ps:254780 Myoclonic epilepsy of Lafora semapv:UnspecifiedMatching +MONDO:0009698 skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:UnspecifiedMatching +MONDO:0009699 skos:exactMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:UnspecifiedMatching +MONDO:0009701 skos:exactMatch OMIM:254950 myopathy, granulovacuolar lobular, with electrical myotonia semapv:UnspecifiedMatching +MONDO:0009702 skos:exactMatch OMIM:254960 myopathy due to malate-aspartate shuttle defect semapv:UnspecifiedMatching +MONDO:0009703 skos:exactMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:UnspecifiedMatching +MONDO:0009704 skos:exactMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:UnspecifiedMatching +MONDO:0009705 skos:exactMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:UnspecifiedMatching +MONDO:0009706 skos:exactMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:UnspecifiedMatching +MONDO:0009707 skos:exactMatch OMIM:255140 myopathy with giant abnormal mitochondria semapv:UnspecifiedMatching +MONDO:0009708 skos:exactMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009709 skos:exactMatch OMIM:255200 myopathy, centronuclear, 2 semapv:UnspecifiedMatching +MONDO:0009712 skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009713 skos:exactMatch OMIM:255500 myopia 18, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009714 skos:exactMatch OMIM:255600 myosclerosis, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009715 skos:exactMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009716 skos:exactMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:UnspecifiedMatching +MONDO:0009718 skos:exactMatch OMIM:255900 myxedema semapv:UnspecifiedMatching +MONDO:0009719 skos:exactMatch OMIM:255960 myxoma, intracardiac semapv:UnspecifiedMatching +MONDO:0009720 skos:exactMatch OMIM:301026 keipert syndrome semapv:UnspecifiedMatching +MONDO:0009721 skos:exactMatch OMIM:255990 nathalie syndrome semapv:UnspecifiedMatching +MONDO:0009722 skos:exactMatch OMIM:255995 congenital myopathy 13 semapv:UnspecifiedMatching +MONDO:0009723 skos:exactMatch OMIM:256000 leigh syndrome semapv:UnspecifiedMatching +MONDO:0009724 skos:exactMatch OMIM:256020 focal segmental glomerulosclerosis 10 semapv:UnspecifiedMatching +MONDO:0009725 skos:exactMatch OMIM:256030 nemaline myopathy 2 semapv:UnspecifiedMatching +MONDO:0009726 skos:exactMatch omim.ps:256040 Proteosome-associated autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0009727 skos:exactMatch OMIM:256050 atelosteogenesis, iia 2 semapv:UnspecifiedMatching +MONDO:0009728 skos:exactMatch OMIM:256100 nephronophthisis 1 semapv:UnspecifiedMatching +MONDO:0009729 skos:exactMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:UnspecifiedMatching +MONDO:0009731 skos:exactMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:UnspecifiedMatching +MONDO:0009732 skos:exactMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0009733 skos:exactMatch OMIM:256370 nephrotic syndrome, iia 4 semapv:UnspecifiedMatching +MONDO:0009734 skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:UnspecifiedMatching +MONDO:0009735 skos:exactMatch OMIM:256500 netherton syndrome semapv:UnspecifiedMatching +MONDO:0009736 skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:UnspecifiedMatching +MONDO:0009737 skos:exactMatch OMIM:256540 galactosialidosis semapv:UnspecifiedMatching +MONDO:0009738 skos:exactMatch OMIM:256150 nephrosialidosis semapv:UnspecifiedMatching +MONDO:0009738 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:UnspecifiedMatching +MONDO:0009740 skos:exactMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:UnspecifiedMatching +MONDO:0009741 skos:exactMatch OMIM:256700 neuroblastoma, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0009742 skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:UnspecifiedMatching +MONDO:0009743 skos:exactMatch OMIM:256720 neurologic disease, infantile multisystem, with osseous fragility semapv:UnspecifiedMatching +MONDO:0009744 skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:UnspecifiedMatching +MONDO:0009745 skos:exactMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:UnspecifiedMatching +MONDO:0009746 skos:exactMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:UnspecifiedMatching +MONDO:0009747 skos:exactMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:UnspecifiedMatching +MONDO:0009748 skos:exactMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009749 skos:exactMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009750 skos:exactMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009751 skos:exactMatch OMIM:256860 neuropathy, hereditary sensory, atypical semapv:UnspecifiedMatching +MONDO:0009752 skos:exactMatch OMIM:256870 neuropathy, painful semapv:UnspecifiedMatching +MONDO:0009753 skos:exactMatch OMIM:257000 neurovisceral storage disease with curvilinear bodies semapv:UnspecifiedMatching +MONDO:0009754 skos:exactMatch OMIM:257100 neutropenia, lethal congenital, with eosinophilia semapv:UnspecifiedMatching +MONDO:0009755 skos:exactMatch OMIM:257150 neutrophil actin dysfunction semapv:UnspecifiedMatching +MONDO:0009756 skos:exactMatch OMIM:257200 niemann-pick disease, iia a semapv:UnspecifiedMatching +MONDO:0009757 skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:UnspecifiedMatching +MONDO:0009758 skos:exactMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:UnspecifiedMatching +MONDO:0009759 skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:UnspecifiedMatching +MONDO:0009760 skos:exactMatch OMIM:257320 lissencephaly 2 semapv:UnspecifiedMatching +MONDO:0009761 skos:exactMatch OMIM:257350 nuchal bleb, familial semapv:UnspecifiedMatching +MONDO:0009762 skos:exactMatch OMIM:257400 nystagmus 8, congenital, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009763 skos:exactMatch OMIM:257500 obesity-hypoventilation syndrome semapv:UnspecifiedMatching +MONDO:0009764 skos:exactMatch OMIM:257550 ocular motor apraxia semapv:UnspecifiedMatching +MONDO:0009765 skos:exactMatch OMIM:257600 ocular myopathy with curare sensitivity semapv:UnspecifiedMatching +MONDO:0009766 skos:exactMatch OMIM:257790 oculocerebral hypopigmentation syndrome of preus semapv:UnspecifiedMatching +MONDO:0009767 skos:exactMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:UnspecifiedMatching +MONDO:0009768 skos:exactMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009769 skos:exactMatch OMIM:257910 oculopalatocerebral syndrome semapv:UnspecifiedMatching +MONDO:0009770 skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:UnspecifiedMatching +MONDO:0009771 skos:exactMatch OMIM:257960 oculotrichodysplasia semapv:UnspecifiedMatching +MONDO:0009772 skos:exactMatch OMIM:257970 oculorenocerebellar syndrome semapv:UnspecifiedMatching +MONDO:0009773 skos:exactMatch OMIM:257980 odontoonychodermal dysplasia semapv:UnspecifiedMatching +MONDO:0009775 skos:exactMatch OMIM:258100 oguchi disease 1 semapv:UnspecifiedMatching +MONDO:0009776 skos:exactMatch OMIM:258150 spermatogenic failure 1 semapv:UnspecifiedMatching +MONDO:0009777 skos:exactMatch OMIM:258200 Oliver syndrome semapv:UnspecifiedMatching +MONDO:0009778 skos:exactMatch OMIM:258300 cerebellar ataxia and albinism semapv:UnspecifiedMatching +MONDO:0009779 skos:exactMatch OMIM:258315 omodysplasia 1 semapv:UnspecifiedMatching +MONDO:0009780 skos:exactMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:UnspecifiedMatching +MONDO:0009781 skos:exactMatch OMIM:258360 onychotrichodysplasia and neutropenia semapv:UnspecifiedMatching +MONDO:0009782 skos:exactMatch OMIM:258400 ophthalmoplegia totalis with ptosis and miosis semapv:UnspecifiedMatching +MONDO:0009783 skos:exactMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0009784 skos:exactMatch OMIM:258470 ophthalmoplegic neuromuscular disorder with abnormal mitochondria semapv:UnspecifiedMatching +MONDO:0009785 skos:exactMatch OMIM:258480 opsismodysplasia semapv:UnspecifiedMatching +MONDO:0009786 skos:exactMatch OMIM:258500 optic atrophy 6 semapv:UnspecifiedMatching +MONDO:0009787 skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:UnspecifiedMatching +MONDO:0009788 skos:exactMatch OMIM:258650 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009789 skos:exactMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:UnspecifiedMatching +MONDO:0009790 skos:exactMatch OMIM:258700 opticocochleodentate degeneration semapv:UnspecifiedMatching +MONDO:0009791 skos:exactMatch OMIM:258800 oral sensibility, disturbance of semapv:UnspecifiedMatching +MONDO:0009792 skos:exactMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:UnspecifiedMatching +MONDO:0009793 skos:exactMatch OMIM:258850 orofaciodigital syndrome 3 semapv:UnspecifiedMatching +MONDO:0009794 skos:exactMatch OMIM:258860 orofaciodigital syndrome 4 semapv:UnspecifiedMatching +MONDO:0009795 skos:exactMatch OMIM:258865 orofaciodigital syndrome 9 semapv:UnspecifiedMatching +MONDO:0009796 skos:exactMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:UnspecifiedMatching +MONDO:0009797 skos:exactMatch OMIM:258900 orotic aciduria semapv:UnspecifiedMatching +MONDO:0009798 skos:exactMatch OMIM:259050 primrose syndrome semapv:UnspecifiedMatching +MONDO:0009800 skos:exactMatch OMIM:259200 blount disease, adolescent semapv:UnspecifiedMatching +MONDO:0009801 skos:exactMatch OMIM:259250 osteodysplasia, familial, anderson iia semapv:UnspecifiedMatching +MONDO:0009802 skos:exactMatch OMIM:259270 osteodysplasty, precocious, of danks, mayne, and kozlowski semapv:UnspecifiedMatching +MONDO:0009803 skos:exactMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:UnspecifiedMatching +MONDO:0009804 skos:exactMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:UnspecifiedMatching +MONDO:0009805 skos:exactMatch OMIM:259440 osteogenesis imperfecta, iia 9 semapv:UnspecifiedMatching +MONDO:0009806 skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:UnspecifiedMatching +MONDO:0009808 skos:exactMatch OMIM:259550 osteoid osteoma semapv:UnspecifiedMatching +MONDO:0009809 skos:exactMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:UnspecifiedMatching +MONDO:0009810 skos:exactMatch OMIM:259610 osteolysis syndrome, recessive semapv:UnspecifiedMatching +MONDO:0009811 skos:exactMatch OMIM:259650 osteoma of middle ear semapv:UnspecifiedMatching +MONDO:0009813 skos:exactMatch omim.ps:609628 Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching +MONDO:0009814 skos:exactMatch OMIM:259690 osteopenia and sparse hair semapv:UnspecifiedMatching +MONDO:0009815 skos:exactMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0009816 skos:exactMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0009817 skos:exactMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0009818 skos:exactMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0009820 skos:exactMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching +MONDO:0009821 skos:exactMatch OMIM:259775 raine syndrome semapv:UnspecifiedMatching +MONDO:0009822 skos:exactMatch OMIM:259780 otoonychoperoneal syndrome semapv:UnspecifiedMatching +MONDO:0009823 skos:exactMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:UnspecifiedMatching +MONDO:0009824 skos:exactMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:UnspecifiedMatching +MONDO:0009825 skos:exactMatch OMIM:260005 5-oxoprolinase deficiency semapv:UnspecifiedMatching +MONDO:0009826 skos:exactMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:UnspecifiedMatching +MONDO:0009827 skos:exactMatch OMIM:260130 pachyonychia congenita, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009828 skos:exactMatch OMIM:260150 palant cleft palate syndrome semapv:UnspecifiedMatching +MONDO:0009829 skos:exactMatch OMIM:260200 pallidal degeneration, progressive, with retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0009830 skos:exactMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:UnspecifiedMatching +MONDO:0009832 skos:exactMatch omim.ps:260370 Pancreatic agenesis semapv:UnspecifiedMatching +MONDO:0009833 skos:exactMatch omim.ps:260400 Schwachman-Diamond syndrome semapv:UnspecifiedMatching +MONDO:0009835 skos:exactMatch OMIM:260470 subacute sclerosing panencephalitis semapv:UnspecifiedMatching +MONDO:0009836 skos:exactMatch OMIM:260480 pancreatitis, sclerosing cholangitis, and sicca complex semapv:UnspecifiedMatching +MONDO:0009837 skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:UnspecifiedMatching +MONDO:0009838 skos:exactMatch OMIM:260530 parana hard-skin syndrome semapv:UnspecifiedMatching +MONDO:0009839 skos:exactMatch OMIM:260540 parkinson-dementia syndrome semapv:UnspecifiedMatching +MONDO:0009840 skos:exactMatch OMIM:260555 partington-anderson syndrome semapv:UnspecifiedMatching +MONDO:0009841 skos:exactMatch OMIM:260565 peho syndrome semapv:UnspecifiedMatching +MONDO:0009842 skos:exactMatch OMIM:260570 immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching +MONDO:0009843 skos:exactMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:UnspecifiedMatching +MONDO:0009844 skos:exactMatch OMIM:260650 pellagra-like syndrome semapv:UnspecifiedMatching +MONDO:0009845 skos:exactMatch OMIM:260660 cousin syndrome semapv:UnspecifiedMatching +MONDO:0009846 skos:exactMatch OMIM:260800 pentosuria semapv:UnspecifiedMatching +MONDO:0009847 skos:exactMatch OMIM:260900 pericardial effusion, chronic semapv:UnspecifiedMatching +MONDO:0009848 skos:exactMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:UnspecifiedMatching +MONDO:0009849 skos:exactMatch OMIM:260920 hyper-igd syndrome semapv:UnspecifiedMatching +MONDO:0009850 skos:exactMatch OMIM:260950 periodontitis, chronic semapv:UnspecifiedMatching +MONDO:0009851 skos:exactMatch OMIM:260970 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain semapv:UnspecifiedMatching +MONDO:0009852 skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:UnspecifiedMatching +MONDO:0009853 skos:exactMatch omim.ps:261100 Imerslund-Grasbeck syndrome semapv:UnspecifiedMatching +MONDO:0009854 skos:exactMatch OMIM:261400 peroneus tertius muscle, absence of semapv:UnspecifiedMatching +MONDO:0009855 skos:exactMatch OMIM:261515 d-bifunctional protein deficiency semapv:UnspecifiedMatching +MONDO:0009856 skos:exactMatch OMIM:261540 peters-plus syndrome semapv:UnspecifiedMatching +MONDO:0009857 skos:exactMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:UnspecifiedMatching +MONDO:0009858 skos:exactMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:UnspecifiedMatching +MONDO:0009859 skos:exactMatch OMIM:261575 phaver syndrome semapv:UnspecifiedMatching +MONDO:0009860 skos:exactMatch OMIM:261590 phenformin 4-hydroxylation semapv:UnspecifiedMatching +MONDO:0009861 skos:exactMatch OMIM:261600 phenylketonuria semapv:UnspecifiedMatching +MONDO:0009862 skos:exactMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:UnspecifiedMatching +MONDO:0009863 skos:exactMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:UnspecifiedMatching +MONDO:0009864 skos:exactMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:UnspecifiedMatching +MONDO:0009865 skos:exactMatch OMIM:261670 glycogen storage disease 10 semapv:UnspecifiedMatching +MONDO:0009866 skos:exactMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:UnspecifiedMatching +MONDO:0009867 skos:exactMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:UnspecifiedMatching +MONDO:0009868 skos:exactMatch OMIM:261750 glycogen storage disease ixb semapv:UnspecifiedMatching +MONDO:0009869 skos:exactMatch OMIM:261800 pierre robin syndrome semapv:UnspecifiedMatching +MONDO:0009870 skos:exactMatch OMIM:261900 pili torti, early-onset semapv:UnspecifiedMatching +MONDO:0009871 skos:exactMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:UnspecifiedMatching +MONDO:0009872 skos:exactMatch OMIM:262000 bjornstad syndrome semapv:UnspecifiedMatching +MONDO:0009873 skos:exactMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:UnspecifiedMatching +MONDO:0009874 skos:exactMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:UnspecifiedMatching +MONDO:0009875 skos:exactMatch OMIM:262300 achromatopsia 3 semapv:UnspecifiedMatching +MONDO:0009876 skos:exactMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:UnspecifiedMatching +MONDO:0009877 skos:exactMatch OMIM:262500 laron syndrome semapv:UnspecifiedMatching +MONDO:0009878 skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:UnspecifiedMatching +MONDO:0009879 skos:exactMatch OMIM:262650 kowarski syndrome semapv:UnspecifiedMatching +MONDO:0009880 skos:exactMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:UnspecifiedMatching +MONDO:0009881 skos:exactMatch OMIM:262710 pituitary dwarfism with large sella turcica semapv:UnspecifiedMatching +MONDO:0009882 skos:exactMatch OMIM:262800 plasma clot retraction factor, deficiency of semapv:UnspecifiedMatching +MONDO:0009883 skos:exactMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:UnspecifiedMatching +MONDO:0009884 skos:exactMatch OMIM:262875 platelet prostacyclin receptor defect semapv:UnspecifiedMatching +MONDO:0009885 skos:exactMatch OMIM:262890 scott syndrome semapv:UnspecifiedMatching +MONDO:0009886 skos:exactMatch OMIM:262900 pleoconial myopathy with salt craving semapv:UnspecifiedMatching +MONDO:0009887 skos:exactMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:UnspecifiedMatching +MONDO:0009888 skos:exactMatch OMIM:263100 polycystic kidney, cataract, and congenital blindness semapv:UnspecifiedMatching +MONDO:0009890 skos:exactMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:UnspecifiedMatching +MONDO:0009891 skos:exactMatch OMIM:263300 polycythemia vera semapv:UnspecifiedMatching +MONDO:0009892 skos:exactMatch OMIM:263400 erythrocytosis, familial, 2 semapv:UnspecifiedMatching +MONDO:0009893 skos:exactMatch OMIM:263450 polydactyly, postaxial, iia a5 semapv:UnspecifiedMatching +MONDO:0009894 skos:exactMatch OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0009895 skos:exactMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:UnspecifiedMatching +MONDO:0009896 skos:exactMatch OMIM:263550 polymyoclonus, infantile semapv:UnspecifiedMatching +MONDO:0009897 skos:exactMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:UnspecifiedMatching +MONDO:0009898 skos:exactMatch OMIM:263600 polysaccharide, storage of unusual semapv:UnspecifiedMatching +MONDO:0009899 skos:exactMatch OMIM:263610 polyhydramnios, chronic idiopathic semapv:UnspecifiedMatching +MONDO:0009900 skos:exactMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:UnspecifiedMatching +MONDO:0009901 skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:UnspecifiedMatching +MONDO:0009902 skos:exactMatch OMIM:263700 porphyria, congenital erythropoietic semapv:UnspecifiedMatching +MONDO:0009903 skos:exactMatch OMIM:263750 postaxial acrofacial dysostosis semapv:UnspecifiedMatching +MONDO:0009904 skos:exactMatch OMIM:263800 gitelman syndrome semapv:UnspecifiedMatching +MONDO:0009905 skos:exactMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:UnspecifiedMatching +MONDO:0009906 skos:exactMatch OMIM:264050 prenatal bowing semapv:UnspecifiedMatching +MONDO:0009907 skos:exactMatch OMIM:264060 prepapillary vascular loops semapv:UnspecifiedMatching +MONDO:0009908 skos:exactMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:UnspecifiedMatching +MONDO:0009909 skos:exactMatch OMIM:264080 progesterone resistance semapv:UnspecifiedMatching +MONDO:0009910 skos:exactMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:UnspecifiedMatching +MONDO:0009911 skos:exactMatch OMIM:264110 prolactin deficiency, isolated semapv:UnspecifiedMatching +MONDO:0009912 skos:exactMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:UnspecifiedMatching +MONDO:0009913 skos:exactMatch OMIM:264140 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness semapv:UnspecifiedMatching +MONDO:0009914 skos:exactMatch OMIM:264180 pseudodiastrophic dysplasia semapv:UnspecifiedMatching +MONDO:0009915 skos:exactMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:UnspecifiedMatching +MONDO:0009916 skos:exactMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching +MONDO:0009917 skos:exactMatch OMIM:264350 pseudohypoaldosteronism, iia ib1, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009918 skos:exactMatch OMIM:264420 fundus dystrophy, pseudoinflammatory, recessive form semapv:UnspecifiedMatching +MONDO:0009919 skos:exactMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:UnspecifiedMatching +MONDO:0009920 skos:exactMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:UnspecifiedMatching +MONDO:0009921 skos:exactMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:UnspecifiedMatching +MONDO:0009922 skos:exactMatch OMIM:264500 pseudouridinuria and mental defect semapv:UnspecifiedMatching +MONDO:0009923 skos:exactMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:UnspecifiedMatching +MONDO:0009925 skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:UnspecifiedMatching +MONDO:0009926 skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:UnspecifiedMatching +MONDO:0009927 skos:exactMatch OMIM:265050 3mc syndrome 2 semapv:UnspecifiedMatching +MONDO:0009928 skos:exactMatch OMIM:265100 pulmonary alveolar microlithiasis semapv:UnspecifiedMatching +MONDO:0009929 skos:exactMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:UnspecifiedMatching +MONDO:0009930 skos:exactMatch OMIM:265140 pulmonary arteriovenous fistulas semapv:UnspecifiedMatching +MONDO:0009931 skos:exactMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:UnspecifiedMatching +MONDO:0009932 skos:exactMatch OMIM:265200 pulmonary bullae causing pneumothorax semapv:UnspecifiedMatching +MONDO:0009933 skos:exactMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:UnspecifiedMatching +MONDO:0009934 skos:exactMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:UnspecifiedMatching +MONDO:0009935 skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching +MONDO:0009936 skos:exactMatch OMIM:265430 pulmonary hypoplasia, primary semapv:UnspecifiedMatching +MONDO:0009937 skos:exactMatch omim.ps:265450 Pulmonary venoocclusive disease semapv:UnspecifiedMatching +MONDO:0009938 skos:exactMatch OMIM:265500 pulmonic stenosis semapv:UnspecifiedMatching +MONDO:0009939 skos:exactMatch OMIM:265600 pulmonic stenosis and congenital nephrosis semapv:UnspecifiedMatching +MONDO:0009940 skos:exactMatch OMIM:265800 pycnodysostosis semapv:UnspecifiedMatching +MONDO:0009941 skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching +MONDO:0009942 skos:exactMatch OMIM:265880 pyknoachondrogenesis semapv:UnspecifiedMatching +MONDO:0009943 skos:exactMatch OMIM:265900 pyle disease semapv:UnspecifiedMatching +MONDO:0009944 skos:exactMatch OMIM:265950 pyloric atresia semapv:UnspecifiedMatching +MONDO:0009946 skos:exactMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0009947 skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:UnspecifiedMatching +MONDO:0009948 skos:exactMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:UnspecifiedMatching +MONDO:0009949 skos:exactMatch OMIM:266150 pyruvate carboxylase deficiency semapv:UnspecifiedMatching +MONDO:0009950 skos:exactMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:UnspecifiedMatching +MONDO:0009951 skos:exactMatch OMIM:266250 radiculoneuropathy, fatal neonatal semapv:UnspecifiedMatching +MONDO:0009952 skos:exactMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:UnspecifiedMatching +MONDO:0009953 skos:exactMatch OMIM:266265 congenital disorder of glycosylation, iia iic semapv:UnspecifiedMatching +MONDO:0009954 skos:exactMatch OMIM:266270 ramon syndrome semapv:UnspecifiedMatching +MONDO:0009955 skos:exactMatch OMIM:266280 rapadilino syndrome semapv:UnspecifiedMatching +MONDO:0009956 skos:exactMatch OMIM:266350 red skin pigment anomaly of new guinea semapv:UnspecifiedMatching +MONDO:0009957 skos:exactMatch OMIM:266400 reese retinal dysplasia semapv:UnspecifiedMatching +MONDO:0009958 skos:exactMatch OMIM:266500 refsum disease, classic semapv:UnspecifiedMatching +MONDO:0009959 skos:exactMatch OMIM:266510 peroxisome biogenesis disorder 3b semapv:UnspecifiedMatching +MONDO:0009960 skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:UnspecifiedMatching +MONDO:0009961 skos:exactMatch OMIM:266810 renal and mullerian duct hypoplasia semapv:UnspecifiedMatching +MONDO:0009962 skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:UnspecifiedMatching +MONDO:0009963 skos:exactMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:UnspecifiedMatching +MONDO:0009964 skos:exactMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0009965 skos:exactMatch OMIM:267000 perlman syndrome semapv:UnspecifiedMatching +MONDO:0009966 skos:exactMatch OMIM:267010 meckel syndrome, iia 7 semapv:UnspecifiedMatching +MONDO:0009967 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:UnspecifiedMatching +MONDO:0009968 skos:exactMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:UnspecifiedMatching +MONDO:0009969 skos:exactMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:UnspecifiedMatching +MONDO:0009970 skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:UnspecifiedMatching +MONDO:0009971 skos:exactMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:UnspecifiedMatching +MONDO:0009972 skos:exactMatch OMIM:267480 respiratory underresponsiveness to hypoxia and hypercapnia semapv:UnspecifiedMatching +MONDO:0009973 skos:exactMatch OMIM:267500 reticular dysgenesis semapv:UnspecifiedMatching +MONDO:0009974 skos:exactMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:UnspecifiedMatching +MONDO:0009975 skos:exactMatch OMIM:267730 reticulum cell sarcoma semapv:UnspecifiedMatching +MONDO:0009976 skos:exactMatch OMIM:267740 retinal degeneration and epilepsy semapv:UnspecifiedMatching +MONDO:0009978 skos:exactMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:UnspecifiedMatching +MONDO:0009979 skos:exactMatch OMIM:179840 reticular dystrophy of retinal pigment epithelium semapv:UnspecifiedMatching +MONDO:0009980 skos:exactMatch OMIM:267900 retinal telangiectasia and hypogammaglobulinemia semapv:UnspecifiedMatching +MONDO:0009982 skos:exactMatch OMIM:268010 retinitis pigmentosa inversa with deafness semapv:UnspecifiedMatching +MONDO:0009983 skos:exactMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:UnspecifiedMatching +MONDO:0009984 skos:exactMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:UnspecifiedMatching +MONDO:0009985 skos:exactMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:UnspecifiedMatching +MONDO:0009986 skos:exactMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:UnspecifiedMatching +MONDO:0009987 skos:exactMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009988 skos:exactMatch OMIM:268080 retinoschisis of fovea semapv:UnspecifiedMatching +MONDO:0009990 skos:exactMatch OMIM:268130 revesz syndrome semapv:UnspecifiedMatching +MONDO:0009992 skos:exactMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:UnspecifiedMatching +MONDO:0009993 skos:exactMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:UnspecifiedMatching +MONDO:0009994 skos:exactMatch OMIM:268220 rhabdomyosarcoma 2 semapv:UnspecifiedMatching +MONDO:0009995 skos:exactMatch OMIM:268240 rheumatic fever-related antigen semapv:UnspecifiedMatching +MONDO:0009996 skos:exactMatch OMIM:268250 rhizomelic syndrome semapv:UnspecifiedMatching +MONDO:0009998 skos:exactMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:UnspecifiedMatching +MONDO:0009999 skos:exactMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0010000 skos:exactMatch OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction semapv:UnspecifiedMatching +MONDO:0010001 skos:exactMatch OMIM:268320 rodrigues blindness semapv:UnspecifiedMatching +MONDO:0010002 skos:exactMatch omim.ps:268400 Rothmund-Thomson syndrome semapv:UnspecifiedMatching +MONDO:0010003 skos:exactMatch OMIM:268500 rowley-rosenberg syndrome semapv:UnspecifiedMatching +MONDO:0010004 skos:exactMatch OMIM:268650 rudiger syndrome semapv:UnspecifiedMatching +MONDO:0010005 skos:exactMatch OMIM:268700 saccharopinuria semapv:UnspecifiedMatching +MONDO:0010006 skos:exactMatch OMIM:268800 sandhoff disease semapv:UnspecifiedMatching +MONDO:0010007 skos:exactMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:UnspecifiedMatching +MONDO:0010008 skos:exactMatch OMIM:268900 sarcosinemia semapv:UnspecifiedMatching +MONDO:0010010 skos:exactMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:UnspecifiedMatching +MONDO:0010011 skos:exactMatch OMIM:269160 schizencephaly semapv:UnspecifiedMatching +MONDO:0010012 skos:exactMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0010013 skos:exactMatch OMIM:269250 schneckenbecken dysplasia semapv:UnspecifiedMatching +MONDO:0010014 skos:exactMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0010015 skos:exactMatch OMIM:269400 anterior segment dysgenesis 7 semapv:UnspecifiedMatching +MONDO:0010016 skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:UnspecifiedMatching +MONDO:0010017 skos:exactMatch OMIM:269600 sea-blue histiocyte disease semapv:UnspecifiedMatching +MONDO:0010018 skos:exactMatch OMIM:269630 second metatarsal-metacarpal syndrome semapv:UnspecifiedMatching +MONDO:0010019 skos:exactMatch OMIM:269650 secretory component deficiency semapv:UnspecifiedMatching +MONDO:0010020 skos:exactMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:UnspecifiedMatching +MONDO:0010021 skos:exactMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010022 skos:exactMatch OMIM:269800 senile plaque formation semapv:UnspecifiedMatching +MONDO:0010023 skos:exactMatch OMIM:269840 immunodeficiency 48 semapv:UnspecifiedMatching +MONDO:0010024 skos:exactMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:UnspecifiedMatching +MONDO:0010025 skos:exactMatch OMIM:269870 short stature-obesity syndrome semapv:UnspecifiedMatching +MONDO:0010026 skos:exactMatch OMIM:269880 short syndrome semapv:UnspecifiedMatching +MONDO:0010027 skos:exactMatch OMIM:269920 infantile sialic acid storage disease semapv:UnspecifiedMatching +MONDO:0010028 skos:exactMatch OMIM:269921 sialuria semapv:UnspecifiedMatching +MONDO:0010030 skos:exactMatch OMIM:270150 sjogren syndrome semapv:UnspecifiedMatching +MONDO:0010031 skos:exactMatch OMIM:270200 sjogren-larsson syndrome semapv:UnspecifiedMatching +MONDO:0010032 skos:exactMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:UnspecifiedMatching +MONDO:0010034 skos:exactMatch OMIM:270350 anosmia for butyl mercaptan semapv:UnspecifiedMatching +MONDO:0010035 skos:exactMatch OMIM:270400 smith-lemli-opitz syndrome semapv:UnspecifiedMatching +MONDO:0010036 skos:exactMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:UnspecifiedMatching +MONDO:0010037 skos:exactMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:UnspecifiedMatching +MONDO:0010038 skos:exactMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:UnspecifiedMatching +MONDO:0010039 skos:exactMatch OMIM:270460 sonoda syndrome semapv:UnspecifiedMatching +MONDO:0010040 skos:exactMatch OMIM:270500 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation semapv:UnspecifiedMatching +MONDO:0010041 skos:exactMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:UnspecifiedMatching +MONDO:0010042 skos:exactMatch OMIM:270600 spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0010043 skos:exactMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:UnspecifiedMatching +MONDO:0010044 skos:exactMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010045 skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching +MONDO:0010046 skos:exactMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010047 skos:exactMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010048 skos:exactMatch OMIM:270805 spastic paraplegia with myoclonic epilepsy semapv:UnspecifiedMatching +MONDO:0010049 skos:exactMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:UnspecifiedMatching +MONDO:0010050 skos:exactMatch OMIM:270900 spastic pseudosclerosis semapv:UnspecifiedMatching +MONDO:0010051 skos:exactMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:UnspecifiedMatching +MONDO:0010052 skos:exactMatch OMIM:270960 spermatogenic failure 4 semapv:UnspecifiedMatching +MONDO:0010053 skos:exactMatch OMIM:270970 spherocytosis, iia 3 semapv:UnspecifiedMatching +MONDO:0010054 skos:exactMatch OMIM:271109 spinal muscular atrophy with mental retardation semapv:UnspecifiedMatching +MONDO:0010055 skos:exactMatch OMIM:271110 spinal muscular atrophy with microcephaly and mental subnormality semapv:UnspecifiedMatching +MONDO:0010056 skos:exactMatch OMIM:271150 spinal muscular atrophy, iia 4 semapv:UnspecifiedMatching +MONDO:0010057 skos:exactMatch OMIM:271200 spinal muscular atrophy, ryukyuan iia semapv:UnspecifiedMatching +MONDO:0010058 skos:exactMatch OMIM:271220 spinal muscular atrophy, scapuloperoneal semapv:UnspecifiedMatching +MONDO:0010060 skos:exactMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:UnspecifiedMatching +MONDO:0010061 skos:exactMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0010062 skos:exactMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:UnspecifiedMatching +MONDO:0010063 skos:exactMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:UnspecifiedMatching +MONDO:0010064 skos:exactMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:UnspecifiedMatching +MONDO:0010065 skos:exactMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:UnspecifiedMatching +MONDO:0010066 skos:exactMatch OMIM:271400 asplenia, isolated congenital semapv:UnspecifiedMatching +MONDO:0010067 skos:exactMatch OMIM:271500 splenoportal vascular anomalies semapv:UnspecifiedMatching +MONDO:0010068 skos:exactMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:UnspecifiedMatching +MONDO:0010069 skos:exactMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:UnspecifiedMatching +MONDO:0010070 skos:exactMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:UnspecifiedMatching +MONDO:0010072 skos:exactMatch OMIM:271600 spondyloepiphyseal dysplasia tarda, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010073 skos:exactMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:UnspecifiedMatching +MONDO:0010074 skos:exactMatch OMIM:271630 brachyolmia iia 1, toledo iia semapv:UnspecifiedMatching +MONDO:0010075 skos:exactMatch OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures semapv:UnspecifiedMatching +MONDO:0010076 skos:exactMatch OMIM:271650 spondyloepimetaphyseal dysplasia, irapa iia semapv:UnspecifiedMatching +MONDO:0010077 skos:exactMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:UnspecifiedMatching +MONDO:0010078 skos:exactMatch OMIM:271700 spondyloperipheral dysplasia semapv:UnspecifiedMatching +MONDO:0010079 skos:exactMatch OMIM:271900 canavan disease semapv:UnspecifiedMatching +MONDO:0010080 skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:UnspecifiedMatching +MONDO:0010081 skos:exactMatch OMIM:271950 subaortic stenosis, membranous semapv:UnspecifiedMatching +MONDO:0010082 skos:exactMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:UnspecifiedMatching +MONDO:0010083 skos:exactMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0010084 skos:exactMatch OMIM:272000 sucrosuria, hiatus hernia, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0010085 skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:UnspecifiedMatching +MONDO:0010086 skos:exactMatch OMIM:272120 sudden infant death syndrome semapv:UnspecifiedMatching +MONDO:0010087 skos:exactMatch OMIM:272150 sugarman brachydactyly semapv:UnspecifiedMatching +MONDO:0010088 skos:exactMatch OMIM:272200 multiple sulfatase deficiency semapv:UnspecifiedMatching +MONDO:0010089 skos:exactMatch OMIM:272300 sulfite oxidase deficiency, isolated semapv:UnspecifiedMatching +MONDO:0010090 skos:exactMatch OMIM:272350 summitt syndrome semapv:UnspecifiedMatching +MONDO:0010091 skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:UnspecifiedMatching +MONDO:0010092 skos:exactMatch OMIM:272440 filippi syndrome semapv:UnspecifiedMatching +MONDO:0010093 skos:exactMatch OMIM:272450 syndesmodysplasic dwarfism semapv:UnspecifiedMatching +MONDO:0010094 skos:exactMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:UnspecifiedMatching +MONDO:0010095 skos:exactMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:UnspecifiedMatching +MONDO:0010096 skos:exactMatch OMIM:272620 tardive dyskinesia semapv:UnspecifiedMatching +MONDO:0010097 skos:exactMatch OMIM:272650 tatsumi factor deficiency semapv:UnspecifiedMatching +MONDO:0010098 skos:exactMatch OMIM:272700 taurodontism semapv:UnspecifiedMatching +MONDO:0010099 skos:exactMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:UnspecifiedMatching +MONDO:0010100 skos:exactMatch OMIM:272800 tay-sachs disease semapv:UnspecifiedMatching +MONDO:0010101 skos:exactMatch OMIM:272950 teebi-shaltout syndrome semapv:UnspecifiedMatching +MONDO:0010102 skos:exactMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:UnspecifiedMatching +MONDO:0010103 skos:exactMatch OMIM:273000 teeth, fused semapv:UnspecifiedMatching +MONDO:0010104 skos:exactMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:UnspecifiedMatching +MONDO:0010105 skos:exactMatch OMIM:273120 teratoma, pineal semapv:UnspecifiedMatching +MONDO:0010106 skos:exactMatch OMIM:273150 testes, rudimentary semapv:UnspecifiedMatching +MONDO:0010108 skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:UnspecifiedMatching +MONDO:0010109 skos:exactMatch OMIM:273390 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities semapv:UnspecifiedMatching +MONDO:0010110 skos:exactMatch omim.ps:273395 Tetraamelia syndrome semapv:UnspecifiedMatching +MONDO:0010111 skos:exactMatch OMIM:273400 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities semapv:UnspecifiedMatching +MONDO:0010112 skos:exactMatch OMIM:273490 thalamic degeneration, symmetric infantile semapv:UnspecifiedMatching +MONDO:0010113 skos:exactMatch OMIM:273600 thalidomide susceptibility semapv:UnspecifiedMatching +MONDO:0010114 skos:exactMatch OMIM:273680 thanatophoric dysplasia, glasgow variant semapv:UnspecifiedMatching +MONDO:0010115 skos:exactMatch OMIM:273730 thoracic dysplasia-hydrocephalus syndrome semapv:UnspecifiedMatching +MONDO:0010116 skos:exactMatch OMIM:273740 thoracomelic dysplasia semapv:UnspecifiedMatching +MONDO:0010117 skos:exactMatch OMIM:273750 three m syndrome 1 semapv:UnspecifiedMatching +MONDO:0010118 skos:exactMatch OMIM:273770 threoninemia semapv:UnspecifiedMatching +MONDO:0010120 skos:exactMatch OMIM:273900 thrombocytopenia 3 semapv:UnspecifiedMatching +MONDO:0010121 skos:exactMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching +MONDO:0010122 skos:exactMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:UnspecifiedMatching +MONDO:0010123 skos:exactMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:UnspecifiedMatching +MONDO:0010124 skos:exactMatch OMIM:274200 thumb, distal hyperextensibility of semapv:UnspecifiedMatching +MONDO:0010125 skos:exactMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:UnspecifiedMatching +MONDO:0010126 skos:exactMatch OMIM:274210 thymic aplasia with fetal death semapv:UnspecifiedMatching +MONDO:0010127 skos:exactMatch OMIM:274230 thymoma, familial semapv:UnspecifiedMatching +MONDO:0010128 skos:exactMatch OMIM:274240 thyrocerebroretinal syndrome semapv:UnspecifiedMatching +MONDO:0010129 skos:exactMatch OMIM:274265 thymic-renal-anal-lung dysplasia semapv:UnspecifiedMatching +MONDO:0010130 skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0010131 skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010133 skos:exactMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:UnspecifiedMatching +MONDO:0010134 skos:exactMatch OMIM:274600 pendred syndrome semapv:UnspecifiedMatching +MONDO:0010135 skos:exactMatch OMIM:274700 thyroid dyshormonogenesis 3 semapv:UnspecifiedMatching +MONDO:0010136 skos:exactMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:UnspecifiedMatching +MONDO:0010137 skos:exactMatch OMIM:274900 thyroid dyshormonogenesis 5 semapv:UnspecifiedMatching +MONDO:0010139 skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:UnspecifiedMatching +MONDO:0010140 skos:exactMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:UnspecifiedMatching +MONDO:0010141 skos:exactMatch OMIM:275190 tiglic acidemia semapv:UnspecifiedMatching +MONDO:0010142 skos:exactMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:UnspecifiedMatching +MONDO:0010144 skos:exactMatch OMIM:275220 tibial hemimelia semapv:UnspecifiedMatching +MONDO:0010145 skos:exactMatch OMIM:275230 tibia, absence of, with congenital deafness semapv:UnspecifiedMatching +MONDO:0010146 skos:exactMatch OMIM:275240 tinea imbricata, susceptibility to semapv:UnspecifiedMatching +MONDO:0010147 skos:exactMatch OMIM:275250 tongue, pigmented fungiform papillae of semapv:UnspecifiedMatching +MONDO:0010148 skos:exactMatch OMIM:275300 tracheobronchomegaly semapv:UnspecifiedMatching +MONDO:0010149 skos:exactMatch OMIM:275350 transcobalamin 2 deficiency semapv:UnspecifiedMatching +MONDO:0010150 skos:exactMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:UnspecifiedMatching +MONDO:0010151 skos:exactMatch OMIM:275370 tricarboxylic acid cycle, defect of semapv:UnspecifiedMatching +MONDO:0010152 skos:exactMatch OMIM:275400 oliver-mcfarlane syndrome semapv:UnspecifiedMatching +MONDO:0010153 skos:exactMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:UnspecifiedMatching +MONDO:0010154 skos:exactMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:UnspecifiedMatching +MONDO:0010155 skos:exactMatch OMIM:275630 chanarin-dorfman syndrome semapv:UnspecifiedMatching +MONDO:0010156 skos:exactMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010157 skos:exactMatch OMIM:276100 tryptophanuria with dwarfism semapv:UnspecifiedMatching +MONDO:0010158 skos:exactMatch OMIM:276200 t-substance anomaly semapv:UnspecifiedMatching +MONDO:0010159 skos:exactMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:UnspecifiedMatching +MONDO:0010160 skos:exactMatch OMIM:276600 tyrosinemia, iia 2 semapv:UnspecifiedMatching +MONDO:0010161 skos:exactMatch OMIM:276700 tyrosinemia, iia 1 semapv:UnspecifiedMatching +MONDO:0010162 skos:exactMatch OMIM:276710 tyrosinemia, iia 3 semapv:UnspecifiedMatching +MONDO:0010163 skos:exactMatch OMIM:276800 tyrosinosis semapv:UnspecifiedMatching +MONDO:0010164 skos:exactMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:UnspecifiedMatching +MONDO:0010165 skos:exactMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:UnspecifiedMatching +MONDO:0010166 skos:exactMatch OMIM:276822 ulnar agenesis and endocardial fibroelastosis semapv:UnspecifiedMatching +MONDO:0010167 skos:exactMatch OMIM:276880 urocanase deficiency semapv:UnspecifiedMatching +MONDO:0010169 skos:exactMatch OMIM:276901 usher syndrome, iia 2a semapv:UnspecifiedMatching +MONDO:0010170 skos:exactMatch OMIM:276902 usher syndrome, iia 3a semapv:UnspecifiedMatching +MONDO:0010171 skos:exactMatch OMIM:276904 usher syndrome, iia 1c semapv:UnspecifiedMatching +MONDO:0010172 skos:exactMatch OMIM:276950 vacterl association with hydrocephalus semapv:UnspecifiedMatching +MONDO:0010173 skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:UnspecifiedMatching +MONDO:0010174 skos:exactMatch OMIM:277100 valinemia semapv:UnspecifiedMatching +MONDO:0010175 skos:exactMatch OMIM:277150 van bogaert-hozay syndrome semapv:UnspecifiedMatching +MONDO:0010176 skos:exactMatch OMIM:277170 orofaciodigital syndrome 6 semapv:UnspecifiedMatching +MONDO:0010177 skos:exactMatch OMIM:277175 vascular hyalinosis semapv:UnspecifiedMatching +MONDO:0010178 skos:exactMatch OMIM:277180 vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching +MONDO:0010179 skos:exactMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:UnspecifiedMatching +MONDO:0010181 skos:exactMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:UnspecifiedMatching +MONDO:0010182 skos:exactMatch OMIM:277350 hypercarotenemia and vitamin a deficiency, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010183 skos:exactMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:UnspecifiedMatching +MONDO:0010184 skos:exactMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:UnspecifiedMatching +MONDO:0010185 skos:exactMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:UnspecifiedMatching +MONDO:0010186 skos:exactMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:UnspecifiedMatching +MONDO:0010187 skos:exactMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:UnspecifiedMatching +MONDO:0010188 skos:exactMatch OMIM:277460 ataxia with vitamin e deficiency semapv:UnspecifiedMatching +MONDO:0010189 skos:exactMatch OMIM:277465 vitiligo, progressive, with mental retardation and urethral duplication semapv:UnspecifiedMatching +MONDO:0010190 skos:exactMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:UnspecifiedMatching +MONDO:0010191 skos:exactMatch OMIM:277480 von willebrand disease, iia 3 semapv:UnspecifiedMatching +MONDO:0010192 skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:UnspecifiedMatching +MONDO:0010193 skos:exactMatch OMIM:277590 weaver syndrome semapv:UnspecifiedMatching +MONDO:0010194 skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:UnspecifiedMatching +MONDO:0010196 skos:exactMatch OMIM:277700 werner syndrome semapv:UnspecifiedMatching +MONDO:0010197 skos:exactMatch OMIM:277720 whistling face syndrome, recessive form semapv:UnspecifiedMatching +MONDO:0010198 skos:exactMatch OMIM:277730 wernicke-korsakoff syndrome semapv:UnspecifiedMatching +MONDO:0010199 skos:exactMatch OMIM:277740 white forelock with malformations semapv:UnspecifiedMatching +MONDO:0010200 skos:exactMatch OMIM:277900 wilson disease semapv:UnspecifiedMatching +MONDO:0010201 skos:exactMatch OMIM:277950 winchester syndrome semapv:UnspecifiedMatching +MONDO:0010203 skos:exactMatch OMIM:277990 wolff mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0010206 skos:exactMatch OMIM:278150 hypotrichosis 8 semapv:UnspecifiedMatching +MONDO:0010207 skos:exactMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:UnspecifiedMatching +MONDO:0010208 skos:exactMatch OMIM:278250 wrinkly skin syndrome semapv:UnspecifiedMatching +MONDO:0010209 skos:exactMatch OMIM:278300 xanthinuria, iia 1 semapv:UnspecifiedMatching +MONDO:0010210 skos:exactMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:UnspecifiedMatching +MONDO:0010211 skos:exactMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:UnspecifiedMatching +MONDO:0010212 skos:exactMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:UnspecifiedMatching +MONDO:0010213 skos:exactMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:UnspecifiedMatching +MONDO:0010214 skos:exactMatch OMIM:278750 xeroderma pigmentosum, variant iia semapv:UnspecifiedMatching +MONDO:0010215 skos:exactMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:UnspecifiedMatching +MONDO:0010216 skos:exactMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:UnspecifiedMatching +MONDO:0010217 skos:exactMatch OMIM:278800 lange sanctis-cacchione syndrome semapv:UnspecifiedMatching +MONDO:0010218 skos:exactMatch OMIM:278850 46,xx sex reversal 2 semapv:UnspecifiedMatching +MONDO:0010219 skos:exactMatch OMIM:278900 xylosidase deficiency semapv:UnspecifiedMatching +MONDO:0010220 skos:exactMatch OMIM:279000 young syndrome semapv:UnspecifiedMatching +MONDO:0010221 skos:exactMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:UnspecifiedMatching +MONDO:0010222 skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:UnspecifiedMatching +MONDO:0010223 skos:exactMatch OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency semapv:UnspecifiedMatching +MONDO:0010224 skos:exactMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:UnspecifiedMatching +MONDO:0010225 skos:exactMatch OMIM:300009 dent disease 1 semapv:UnspecifiedMatching +MONDO:0010226 skos:exactMatch OMIM:300018 46,xy sex reversal 2 semapv:UnspecifiedMatching +MONDO:0010227 skos:exactMatch OMIM:300029 retinitis pigmentosa 3 semapv:UnspecifiedMatching +MONDO:0010228 skos:exactMatch OMIM:300030 deafness, X-linked 3 semapv:UnspecifiedMatching +MONDO:0010229 skos:exactMatch OMIM:300042 alopecia, congenital semapv:UnspecifiedMatching +MONDO:0010230 skos:exactMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:UnspecifiedMatching +MONDO:0010231 skos:exactMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:UnspecifiedMatching +MONDO:0010232 skos:exactMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:UnspecifiedMatching +MONDO:0010233 skos:exactMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:UnspecifiedMatching +MONDO:0010235 skos:exactMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:UnspecifiedMatching +MONDO:0010236 skos:exactMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:UnspecifiedMatching +MONDO:0010237 skos:exactMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:UnspecifiedMatching +MONDO:0010238 skos:exactMatch OMIM:300066 deafness, X-linked 4 semapv:UnspecifiedMatching +MONDO:0010239 skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:UnspecifiedMatching +MONDO:0010241 skos:exactMatch OMIM:300071 night blindness, congenital stationary, iia 2a semapv:UnspecifiedMatching +MONDO:0010242 skos:exactMatch OMIM:300073 fetal akinesia syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010243 skos:exactMatch OMIM:300076 immunoneurologic disorder, X-linked semapv:UnspecifiedMatching +MONDO:0010244 skos:exactMatch OMIM:300082 cognitive function 1, social semapv:UnspecifiedMatching +MONDO:0010245 skos:exactMatch OMIM:300085 cone-rod dystrophy, x-linked, 2 semapv:UnspecifiedMatching +MONDO:0010246 skos:exactMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:UnspecifiedMatching +MONDO:0010248 skos:exactMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:UnspecifiedMatching +MONDO:0010250 skos:exactMatch OMIM:300114 raynaud-claes syndrome semapv:UnspecifiedMatching +MONDO:0010251 skos:exactMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:UnspecifiedMatching +MONDO:0010252 skos:exactMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:UnspecifiedMatching +MONDO:0010253 skos:exactMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0010254 skos:exactMatch OMIM:300129 hematopoietic stem cell kinetics, control of semapv:UnspecifiedMatching +MONDO:0010255 skos:exactMatch OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to semapv:UnspecifiedMatching +MONDO:0010256 skos:exactMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:UnspecifiedMatching +MONDO:0010257 skos:exactMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010258 skos:exactMatch OMIM:300148 mehmo syndrome semapv:UnspecifiedMatching +MONDO:0010259 skos:exactMatch OMIM:300155 retinitis pigmentosa 24 semapv:UnspecifiedMatching +MONDO:0010260 skos:exactMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:UnspecifiedMatching +MONDO:0010261 skos:exactMatch OMIM:300166 microphthalmia, syndromic 2 semapv:UnspecifiedMatching +MONDO:0010262 skos:exactMatch OMIM:300184 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses semapv:UnspecifiedMatching +MONDO:0010263 skos:exactMatch OMIM:300194 amme complex semapv:UnspecifiedMatching +MONDO:0010264 skos:exactMatch OMIM:300200 adrenal hypoplasia, congenital semapv:UnspecifiedMatching +MONDO:0010265 skos:exactMatch OMIM:300209 simpson-golabi-behmel syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0010266 skos:exactMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:UnspecifiedMatching +MONDO:0010267 skos:exactMatch OMIM:300211 episodic muscle weakness, X-linked semapv:UnspecifiedMatching +MONDO:0010268 skos:exactMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:UnspecifiedMatching +MONDO:0010269 skos:exactMatch OMIM:300216 coats disease semapv:UnspecifiedMatching +MONDO:0010270 skos:exactMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:UnspecifiedMatching +MONDO:0010271 skos:exactMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:UnspecifiedMatching +MONDO:0010273 skos:exactMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:UnspecifiedMatching +MONDO:0010274 skos:exactMatch OMIM:300228 testicular germ cell tumor 1 semapv:UnspecifiedMatching +MONDO:0010275 skos:exactMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:UnspecifiedMatching +MONDO:0010276 skos:exactMatch OMIM:300233 radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male semapv:UnspecifiedMatching +MONDO:0010277 skos:exactMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi iia semapv:UnspecifiedMatching +MONDO:0010278 skos:exactMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia semapv:UnspecifiedMatching +MONDO:0010279 skos:exactMatch OMIM:300244 terminal osseous dysplasia semapv:UnspecifiedMatching +MONDO:0010280 skos:exactMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:UnspecifiedMatching +MONDO:0010281 skos:exactMatch OMIM:300257 danon disease semapv:UnspecifiedMatching +MONDO:0010282 skos:exactMatch OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked semapv:UnspecifiedMatching +MONDO:0010283 skos:exactMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs iia semapv:UnspecifiedMatching +MONDO:0010284 skos:exactMatch OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia semapv:UnspecifiedMatching +MONDO:0010285 skos:exactMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi iia semapv:UnspecifiedMatching +MONDO:0010286 skos:exactMatch OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia semapv:UnspecifiedMatching +MONDO:0010287 skos:exactMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:UnspecifiedMatching +MONDO:0010288 skos:exactMatch OMIM:300270 adrenomyodystrophy semapv:UnspecifiedMatching +MONDO:0010289 skos:exactMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:UnspecifiedMatching +MONDO:0010290 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:UnspecifiedMatching +MONDO:0010291 skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching +MONDO:0010292 skos:exactMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:UnspecifiedMatching +MONDO:0010293 skos:exactMatch omim.ps:300291 Ectodermal dysplasia and immune deficiency semapv:UnspecifiedMatching +MONDO:0010294 skos:exactMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:UnspecifiedMatching +MONDO:0010296 skos:exactMatch OMIM:300310 immunodeficiency 61 semapv:UnspecifiedMatching +MONDO:0010297 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:UnspecifiedMatching +MONDO:0010298 skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:UnspecifiedMatching +MONDO:0010299 skos:exactMatch OMIM:300323 hyperuricemia, hprt-related semapv:UnspecifiedMatching +MONDO:0010300 skos:exactMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:UnspecifiedMatching +MONDO:0010302 skos:exactMatch OMIM:300337 hypomelanosis of ito semapv:UnspecifiedMatching +MONDO:0010304 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010305 skos:exactMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:UnspecifiedMatching +MONDO:0010306 skos:exactMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:UnspecifiedMatching +MONDO:0010307 skos:exactMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:UnspecifiedMatching +MONDO:0010308 skos:exactMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching +MONDO:0010309 skos:exactMatch OMIM:300372 intellectual developmental disorder, X-linked 42 semapv:UnspecifiedMatching +MONDO:0010310 skos:exactMatch OMIM:300373 osteopathia striata with cranial sclerosis semapv:UnspecifiedMatching +MONDO:0010311 skos:exactMatch OMIM:300376 muscular dystrophy, becker iia semapv:UnspecifiedMatching +MONDO:0010312 skos:exactMatch OMIM:300378 radial ray deficiency, X-linked semapv:UnspecifiedMatching +MONDO:0010313 skos:exactMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:UnspecifiedMatching +MONDO:0010314 skos:exactMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:UnspecifiedMatching +MONDO:0010315 skos:exactMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:UnspecifiedMatching +MONDO:0010316 skos:exactMatch OMIM:300406 fg syndrome 3 semapv:UnspecifiedMatching +MONDO:0010317 skos:exactMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:UnspecifiedMatching +MONDO:0010318 skos:exactMatch OMIM:300422 fg syndrome 4 semapv:UnspecifiedMatching +MONDO:0010319 skos:exactMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia semapv:UnspecifiedMatching +MONDO:0010320 skos:exactMatch OMIM:300424 retinitis pigmentosa 23 semapv:UnspecifiedMatching +MONDO:0010321 skos:exactMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010322 skos:exactMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010323 skos:exactMatch OMIM:300431 atkin-flaitz syndrome semapv:UnspecifiedMatching +MONDO:0010324 skos:exactMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:UnspecifiedMatching +MONDO:0010325 skos:exactMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:UnspecifiedMatching +MONDO:0010326 skos:exactMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:UnspecifiedMatching +MONDO:0010327 skos:exactMatch OMIM:300438 hsd10 mitochondrial disease semapv:UnspecifiedMatching +MONDO:0010328 skos:exactMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:UnspecifiedMatching +MONDO:0010329 skos:exactMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:UnspecifiedMatching +MONDO:0010330 skos:exactMatch OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching +MONDO:0010331 skos:exactMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0010332 skos:exactMatch OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching +MONDO:0010333 skos:exactMatch OMIM:300472 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia semapv:UnspecifiedMatching +MONDO:0010334 skos:exactMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:UnspecifiedMatching +MONDO:0010335 skos:exactMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:UnspecifiedMatching +MONDO:0010336 skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:UnspecifiedMatching +MONDO:0010337 skos:exactMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:UnspecifiedMatching +MONDO:0010338 skos:exactMatch OMIM:300489 neuronopathy, distal hereditary motor, X-linked semapv:UnspecifiedMatching +MONDO:0010339 skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching +MONDO:0010341 skos:exactMatch OMIM:300495 autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010342 skos:exactMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching +MONDO:0010344 skos:exactMatch OMIM:300498 intellectual developmental disorder, X-linked 45 semapv:UnspecifiedMatching +MONDO:0010346 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching +MONDO:0010347 skos:exactMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:UnspecifiedMatching +MONDO:0010348 skos:exactMatch OMIM:300509 dyslexia, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0010349 skos:exactMatch OMIM:300510 ovarian dysgenesis 2 semapv:UnspecifiedMatching +MONDO:0010350 skos:exactMatch OMIM:300511 premature ovarian failure 2a semapv:UnspecifiedMatching +MONDO:0010351 skos:exactMatch OMIM:300514 fanconi anemia, complementation group B semapv:UnspecifiedMatching +MONDO:0010352 skos:exactMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:UnspecifiedMatching +MONDO:0010353 skos:exactMatch OMIM:300519 martin-probst syndrome semapv:UnspecifiedMatching +MONDO:0010354 skos:exactMatch OMIM:300523 allan-herndon-dudley syndrome semapv:UnspecifiedMatching +MONDO:0010355 skos:exactMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia semapv:UnspecifiedMatching +MONDO:0010356 skos:exactMatch OMIM:300539 nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching +MONDO:0010357 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching +MONDO:0010358 skos:exactMatch OMIM:300554 hypophosphatemic rickets, X-linked recessive semapv:UnspecifiedMatching +MONDO:0010359 skos:exactMatch OMIM:300555 dent disease 2 semapv:UnspecifiedMatching +MONDO:0010360 skos:exactMatch OMIM:300557 parkinson disease 12 semapv:UnspecifiedMatching +MONDO:0010361 skos:exactMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:UnspecifiedMatching +MONDO:0010362 skos:exactMatch OMIM:300559 glycogen storage disease ixd semapv:UnspecifiedMatching +MONDO:0010363 skos:exactMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:UnspecifiedMatching +MONDO:0010364 skos:exactMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:UnspecifiedMatching +MONDO:0010365 skos:exactMatch OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked semapv:UnspecifiedMatching +MONDO:0010366 skos:exactMatch OMIM:300581 fg syndrome 5 semapv:UnspecifiedMatching +MONDO:0010367 skos:exactMatch OMIM:300582 short stature, idiopathic, X-linked semapv:UnspecifiedMatching +MONDO:0010369 skos:exactMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:UnspecifiedMatching +MONDO:0010370 skos:exactMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:UnspecifiedMatching +MONDO:0010371 skos:exactMatch OMIM:300600 aland island eye disease semapv:UnspecifiedMatching +MONDO:0010373 skos:exactMatch OMIM:300604 premature ovarian failure 2b semapv:UnspecifiedMatching +MONDO:0010374 skos:exactMatch OMIM:300605 retinitis pigmentosa 34 semapv:UnspecifiedMatching +MONDO:0010375 skos:exactMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:UnspecifiedMatching +MONDO:0010377 skos:exactMatch OMIM:300613 myopia 13, X-linked semapv:UnspecifiedMatching +MONDO:0010378 skos:exactMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0010379 skos:exactMatch OMIM:300615 brunner syndrome semapv:UnspecifiedMatching +MONDO:0010380 skos:exactMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0010381 skos:exactMatch OMIM:300622 tn polyagglutination syndrome semapv:UnspecifiedMatching +MONDO:0010382 skos:exactMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:UnspecifiedMatching +MONDO:0010383 skos:exactMatch OMIM:300624 fragile 10 syndrome semapv:UnspecifiedMatching +MONDO:0010384 skos:exactMatch OMIM:300633 hypospadias 1, X-linked semapv:UnspecifiedMatching +MONDO:0010385 skos:exactMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:UnspecifiedMatching +MONDO:0010386 skos:exactMatch OMIM:300636 immunodeficiency 33 semapv:UnspecifiedMatching +MONDO:0010387 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching +MONDO:0010388 skos:exactMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:UnspecifiedMatching +MONDO:0010389 skos:exactMatch OMIM:300645 immunodeficiency 34 semapv:UnspecifiedMatching +MONDO:0010390 skos:exactMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:UnspecifiedMatching +MONDO:0010391 skos:exactMatch OMIM:300652 angioma serpiginosum, X-linked semapv:UnspecifiedMatching +MONDO:0010392 skos:exactMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching +MONDO:0010393 skos:exactMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:UnspecifiedMatching +MONDO:0010394 skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching +MONDO:0010395 skos:exactMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching +MONDO:0010396 skos:exactMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:UnspecifiedMatching +MONDO:0010397 skos:exactMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:UnspecifiedMatching +MONDO:0010398 skos:exactMatch OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 semapv:UnspecifiedMatching +MONDO:0010399 skos:exactMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:UnspecifiedMatching +MONDO:0010400 skos:exactMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:UnspecifiedMatching +MONDO:0010401 skos:exactMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:UnspecifiedMatching +MONDO:0010402 skos:exactMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:UnspecifiedMatching +MONDO:0010403 skos:exactMatch OMIM:300700 albinism-deafness syndrome semapv:UnspecifiedMatching +MONDO:0010404 skos:exactMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:UnspecifiedMatching +MONDO:0010405 skos:exactMatch OMIM:300704 prostate cancer, hereditary, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010406 skos:exactMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010407 skos:exactMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:UnspecifiedMatching +MONDO:0010408 skos:exactMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:UnspecifiedMatching +MONDO:0010409 skos:exactMatch OMIM:300709 intellectual developmental disorder, x-linked, syndromic 9 semapv:UnspecifiedMatching +MONDO:0010410 skos:exactMatch OMIM:300710 alopecia, androgenetic, 2 semapv:UnspecifiedMatching +MONDO:0010411 skos:exactMatch OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 semapv:UnspecifiedMatching +MONDO:0010412 skos:exactMatch OMIM:300712 craniofacioskeletal syndrome semapv:UnspecifiedMatching +MONDO:0010413 skos:exactMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:UnspecifiedMatching +MONDO:0010414 skos:exactMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:UnspecifiedMatching +MONDO:0010415 skos:exactMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:UnspecifiedMatching +MONDO:0010416 skos:exactMatch OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities semapv:UnspecifiedMatching +MONDO:0010417 skos:exactMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0010418 skos:exactMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:UnspecifiedMatching +MONDO:0010420 skos:exactMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:UnspecifiedMatching +MONDO:0010421 skos:exactMatch OMIM:300755 agammaglobulinemia, X-linked semapv:UnspecifiedMatching +MONDO:0010422 skos:exactMatch OMIM:300756 alzheimer disease 16 semapv:UnspecifiedMatching +MONDO:0010423 skos:exactMatch OMIM:300758 hypospadias 2, X-linked semapv:UnspecifiedMatching +MONDO:0010424 skos:exactMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:UnspecifiedMatching +MONDO:0010425 skos:exactMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:UnspecifiedMatching +MONDO:0010426 skos:exactMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:UnspecifiedMatching +MONDO:0010427 skos:exactMatch OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia semapv:UnspecifiedMatching +MONDO:0010428 skos:exactMatch OMIM:300801 chromosome xp11.23-p11.22 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010429 skos:exactMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:UnspecifiedMatching +MONDO:0010430 skos:exactMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:UnspecifiedMatching +MONDO:0010431 skos:exactMatch OMIM:300804 joubert syndrome 10 semapv:UnspecifiedMatching +MONDO:0010432 skos:exactMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:UnspecifiedMatching +MONDO:0010433 skos:exactMatch OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 semapv:UnspecifiedMatching +MONDO:0010434 skos:exactMatch OMIM:300813 sarcoma, synovial semapv:UnspecifiedMatching +MONDO:0010435 skos:exactMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:UnspecifiedMatching +MONDO:0010436 skos:exactMatch OMIM:300815 chromosome xq28 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010437 skos:exactMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:UnspecifiedMatching +MONDO:0010438 skos:exactMatch OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 semapv:UnspecifiedMatching +MONDO:0010439 skos:exactMatch OMIM:300829 cardiomyopathy, fatal fetal, due to myocardial calcification semapv:UnspecifiedMatching +MONDO:0010440 skos:exactMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:UnspecifiedMatching +MONDO:0010441 skos:exactMatch OMIM:300831 ck syndrome semapv:UnspecifiedMatching +MONDO:0010442 skos:exactMatch OMIM:300833 46,xx sex reversal 3 semapv:UnspecifiedMatching +MONDO:0010443 skos:exactMatch OMIM:300834 macular degeneration, atrophic, X-linked semapv:UnspecifiedMatching +MONDO:0010444 skos:exactMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:UnspecifiedMatching +MONDO:0010446 skos:exactMatch OMIM:300843 bornholm eye disease semapv:UnspecifiedMatching +MONDO:0010447 skos:exactMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:UnspecifiedMatching +MONDO:0010448 skos:exactMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0010449 skos:exactMatch OMIM:300847 autism, susceptibility to, X-linked 5 semapv:UnspecifiedMatching +MONDO:0010450 skos:exactMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:UnspecifiedMatching +MONDO:0010451 skos:exactMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:UnspecifiedMatching +MONDO:0010452 skos:exactMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:UnspecifiedMatching +MONDO:0010453 skos:exactMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:UnspecifiedMatching +MONDO:0010454 skos:exactMatch OMIM:300852 intellectual developmental disorder, X-linked 88 semapv:UnspecifiedMatching +MONDO:0010455 skos:exactMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:UnspecifiedMatching +MONDO:0010456 skos:exactMatch OMIM:300854 renal cell carcinoma, xp11-associated semapv:UnspecifiedMatching +MONDO:0010457 skos:exactMatch OMIM:300855 ogden syndrome semapv:UnspecifiedMatching +MONDO:0010458 skos:exactMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:UnspecifiedMatching +MONDO:0010459 skos:exactMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0010460 skos:exactMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:UnspecifiedMatching +MONDO:0010461 skos:exactMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:UnspecifiedMatching +MONDO:0010462 skos:exactMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia semapv:UnspecifiedMatching +MONDO:0010463 skos:exactMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:UnspecifiedMatching +MONDO:0010464 skos:exactMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010465 skos:exactMatch OMIM:300867 kabuki syndrome 2 semapv:UnspecifiedMatching +MONDO:0010466 skos:exactMatch OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:UnspecifiedMatching +MONDO:0010467 skos:exactMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010468 skos:exactMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:UnspecifiedMatching +MONDO:0010469 skos:exactMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:UnspecifiedMatching +MONDO:0010470 skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching +MONDO:0010471 skos:exactMatch OMIM:300882 cornelia lange lange syndrome 5 semapv:UnspecifiedMatching +MONDO:0010472 skos:exactMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:UnspecifiedMatching +MONDO:0010473 skos:exactMatch OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 semapv:UnspecifiedMatching +MONDO:0010474 skos:exactMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:UnspecifiedMatching +MONDO:0010475 skos:exactMatch OMIM:300888 hypothyroidism, central, with testicular enlargement semapv:UnspecifiedMatching +MONDO:0010476 skos:exactMatch OMIM:300894 neurodegeneration with brain iron accumulation 5 semapv:UnspecifiedMatching +MONDO:0010477 skos:exactMatch OMIM:300895 ohdo syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010478 skos:exactMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:UnspecifiedMatching +MONDO:0010479 skos:exactMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:UnspecifiedMatching +MONDO:0010480 skos:exactMatch OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency semapv:UnspecifiedMatching +MONDO:0010482 skos:exactMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:UnspecifiedMatching +MONDO:0010483 skos:exactMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:UnspecifiedMatching +MONDO:0010484 skos:exactMatch OMIM:300914 deafness, X-linked 6 semapv:UnspecifiedMatching +MONDO:0010485 skos:exactMatch OMIM:300915 microphthalmia, syndromic 13 semapv:UnspecifiedMatching +MONDO:0010486 skos:exactMatch OMIM:300918 olmsted syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010487 skos:exactMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:UnspecifiedMatching +MONDO:0010488 skos:exactMatch OMIM:300923 intellectual developmental disorder, X-linked 100 semapv:UnspecifiedMatching +MONDO:0010489 skos:exactMatch OMIM:300928 intellectual developmental disorder, X-linked 101 semapv:UnspecifiedMatching +MONDO:0010490 skos:exactMatch OMIM:300934 congenital disorder of glycosylation, iia iy semapv:UnspecifiedMatching +MONDO:0010491 skos:exactMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010492 skos:exactMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:UnspecifiedMatching +MONDO:0010493 skos:exactMatch OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis semapv:UnspecifiedMatching +MONDO:0010494 skos:exactMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:UnspecifiedMatching +MONDO:0010495 skos:exactMatch OMIM:300953 trichothiodystrophy 5, nonphotosensitive semapv:UnspecifiedMatching +MONDO:0010496 skos:exactMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:UnspecifiedMatching +MONDO:0010497 skos:exactMatch OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia semapv:UnspecifiedMatching +MONDO:0010498 skos:exactMatch OMIM:300960 mend syndrome semapv:UnspecifiedMatching +MONDO:0010499 skos:exactMatch OMIM:300963 ritscher-schinzel syndrome 2 semapv:UnspecifiedMatching +MONDO:0010500 skos:exactMatch OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 semapv:UnspecifiedMatching +MONDO:0010501 skos:exactMatch OMIM:300967 intellectual developmental disorder, x-linked, syndromic 34 semapv:UnspecifiedMatching +MONDO:0010502 skos:exactMatch OMIM:300968 intellectual developmental disorder, X-linked 99, syndromic, female-restricted semapv:UnspecifiedMatching +MONDO:0010503 skos:exactMatch OMIM:300971 bartter syndrome, iia 5, antenatal, transient semapv:UnspecifiedMatching +MONDO:0010504 skos:exactMatch OMIM:300972 immunodeficiency 47 semapv:UnspecifiedMatching +MONDO:0010505 skos:exactMatch OMIM:300977 scholte syndrome semapv:UnspecifiedMatching +MONDO:0010506 skos:exactMatch OMIM:300978 tonne-kalscheuer syndrome semapv:UnspecifiedMatching +MONDO:0010507 skos:exactMatch OMIM:300979 chromosome xq25 duplication syndrome semapv:UnspecifiedMatching +MONDO:0010508 skos:exactMatch OMIM:300982 intellectual developmental disorder, X-linked 103 semapv:UnspecifiedMatching +MONDO:0010509 skos:exactMatch OMIM:300983 intellectual developmental disorder, X-linked 104 semapv:UnspecifiedMatching +MONDO:0010510 skos:exactMatch OMIM:300984 intellectual developmental disorder, X-linked 105 semapv:UnspecifiedMatching +MONDO:0010511 skos:exactMatch OMIM:300985 vas deferens, congenital bilateral aplasia of, X-linked semapv:UnspecifiedMatching +MONDO:0010512 skos:exactMatch OMIM:300986 intellectual developmental disorder, x-linked, syndromic, bain iia semapv:UnspecifiedMatching +MONDO:0010514 skos:exactMatch OMIM:300988 immunodeficiency 50 semapv:UnspecifiedMatching +MONDO:0010515 skos:exactMatch OMIM:300989 meester-loeys syndrome semapv:UnspecifiedMatching +MONDO:0010516 skos:exactMatch OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:UnspecifiedMatching +MONDO:0010517 skos:exactMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:UnspecifiedMatching +MONDO:0010518 skos:exactMatch OMIM:301000 wiskott-aldrich syndrome semapv:UnspecifiedMatching +MONDO:0010519 skos:exactMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010520 skos:exactMatch OMIM:301050 alport syndrome 1, X-linked semapv:UnspecifiedMatching +MONDO:0010521 skos:exactMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:UnspecifiedMatching +MONDO:0010522 skos:exactMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010523 skos:exactMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:UnspecifiedMatching +MONDO:0010524 skos:exactMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:UnspecifiedMatching +MONDO:0010525 skos:exactMatch OMIM:301410 neural tube defects, X-linked semapv:UnspecifiedMatching +MONDO:0010526 skos:exactMatch OMIM:301500 fabry disease semapv:UnspecifiedMatching +MONDO:0010527 skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching +MONDO:0010529 skos:exactMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:UnspecifiedMatching +MONDO:0010531 skos:exactMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:UnspecifiedMatching +MONDO:0010532 skos:exactMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010533 skos:exactMatch OMIM:301835 arts syndrome semapv:UnspecifiedMatching +MONDO:0010534 skos:exactMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:UnspecifiedMatching +MONDO:0010535 skos:exactMatch OMIM:301845 bazex-dupre-christol syndrome semapv:UnspecifiedMatching +MONDO:0010536 skos:exactMatch OMIM:301850 tubulin, beta semapv:UnspecifiedMatching +MONDO:0010537 skos:exactMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:UnspecifiedMatching +MONDO:0010538 skos:exactMatch OMIM:301940 brachydactyly, mononen iia semapv:UnspecifiedMatching +MONDO:0010539 skos:exactMatch OMIM:301950 branchial arch syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010540 skos:exactMatch OMIM:302000 bullous dystrophy, hereditary macular iia semapv:UnspecifiedMatching +MONDO:0010541 skos:exactMatch OMIM:302030 calvarial hyperostosis semapv:UnspecifiedMatching +MONDO:0010542 skos:exactMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:UnspecifiedMatching +MONDO:0010543 skos:exactMatch OMIM:302060 barth syndrome semapv:UnspecifiedMatching +MONDO:0010544 skos:exactMatch OMIM:302200 cataract 40 semapv:UnspecifiedMatching +MONDO:0010545 skos:exactMatch OMIM:302350 nance-horan syndrome semapv:UnspecifiedMatching +MONDO:0010546 skos:exactMatch OMIM:302400 central incisors, absence of semapv:UnspecifiedMatching +MONDO:0010547 skos:exactMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010548 skos:exactMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010549 skos:exactMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:UnspecifiedMatching +MONDO:0010550 skos:exactMatch OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 semapv:UnspecifiedMatching +MONDO:0010551 skos:exactMatch OMIM:302802 charcot-marie-tooth disease, X-linked recessive, 3 semapv:UnspecifiedMatching +MONDO:0010552 skos:exactMatch OMIM:302803 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita semapv:UnspecifiedMatching +MONDO:0010553 skos:exactMatch OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined semapv:UnspecifiedMatching +MONDO:0010554 skos:exactMatch OMIM:302905 abruzzo-erickson syndrome semapv:UnspecifiedMatching +MONDO:0010555 skos:exactMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:UnspecifiedMatching +MONDO:0010557 skos:exactMatch OMIM:303100 choroideremia semapv:UnspecifiedMatching +MONDO:0010558 skos:exactMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:UnspecifiedMatching +MONDO:0010559 skos:exactMatch OMIM:303350 masa syndrome semapv:UnspecifiedMatching +MONDO:0010560 skos:exactMatch OMIM:303400 cleft palate with or without ankyloglossia, X-linked semapv:UnspecifiedMatching +MONDO:0010561 skos:exactMatch OMIM:303600 coffin-lowry syndrome semapv:UnspecifiedMatching +MONDO:0010562 skos:exactMatch OMIM:303650 colonic atresia semapv:UnspecifiedMatching +MONDO:0010563 skos:exactMatch OMIM:303700 blue cone monochromacy semapv:UnspecifiedMatching +MONDO:0010564 skos:exactMatch OMIM:303800 colorblindness, partial, deutan series semapv:UnspecifiedMatching +MONDO:0010565 skos:exactMatch OMIM:303900 colorblindness, partial, protan series semapv:UnspecifiedMatching +MONDO:0010566 skos:exactMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:UnspecifiedMatching +MONDO:0010567 skos:exactMatch OMIM:304030 cone dystrophy, x-linked, with tapetal-like sheen semapv:UnspecifiedMatching +MONDO:0010568 skos:exactMatch OMIM:304050 aicardi syndrome semapv:UnspecifiedMatching +MONDO:0010569 skos:exactMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:UnspecifiedMatching +MONDO:0010570 skos:exactMatch OMIM:304110 craniofrontonasal syndrome semapv:UnspecifiedMatching +MONDO:0010571 skos:exactMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0010572 skos:exactMatch OMIM:304150 occipital horn syndrome semapv:UnspecifiedMatching +MONDO:0010573 skos:exactMatch OMIM:304200 cutis verticis gyrata, thyroid aplasia, and mental retardation semapv:UnspecifiedMatching +MONDO:0010574 skos:exactMatch OMIM:304340 pettigrew syndrome semapv:UnspecifiedMatching +MONDO:0010575 skos:exactMatch OMIM:304350 deafness-hypogonadism syndrome semapv:UnspecifiedMatching +MONDO:0010576 skos:exactMatch OMIM:304400 deafness, X-linked 2 semapv:UnspecifiedMatching +MONDO:0010577 skos:exactMatch OMIM:304500 deafness, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010578 skos:exactMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:UnspecifiedMatching +MONDO:0010579 skos:exactMatch OMIM:304730 dermoids of cornea semapv:UnspecifiedMatching +MONDO:0010580 skos:exactMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:UnspecifiedMatching +MONDO:0010581 skos:exactMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:UnspecifiedMatching +MONDO:0010582 skos:exactMatch OMIM:304900 diabetes insipidus, neurohypophyseal, X-linked semapv:UnspecifiedMatching +MONDO:0010583 skos:exactMatch OMIM:304950 dyggve-melchior-clausen syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010584 skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:UnspecifiedMatching +MONDO:0010585 skos:exactMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:UnspecifiedMatching +MONDO:0010587 skos:exactMatch OMIM:305350 epidermodysplasia verruciformis, X-linked semapv:UnspecifiedMatching +MONDO:0010588 skos:exactMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:UnspecifiedMatching +MONDO:0010589 skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:UnspecifiedMatching +MONDO:0010590 skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:UnspecifiedMatching +MONDO:0010591 skos:exactMatch OMIM:305550 fingerprint body myopathy semapv:UnspecifiedMatching +MONDO:0010592 skos:exactMatch OMIM:305600 focal dermal hypoplasia semapv:UnspecifiedMatching +MONDO:0010594 skos:exactMatch OMIM:305690 genitourinary tract anomalies semapv:UnspecifiedMatching +MONDO:0010596 skos:exactMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:UnspecifiedMatching +MONDO:0010597 skos:exactMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:UnspecifiedMatching +MONDO:0010598 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:UnspecifiedMatching +MONDO:0010599 skos:exactMatch OMIM:306300 granulomas, congenital cerebral semapv:UnspecifiedMatching +MONDO:0010600 skos:exactMatch OMIM:306400 granulomatous disease, chronic, X-linked semapv:UnspecifiedMatching +MONDO:0010601 skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching +MONDO:0010602 skos:exactMatch OMIM:134500 factor 8 deficiency semapv:UnspecifiedMatching +MONDO:0010602 skos:exactMatch OMIM:306700 hemophilia a semapv:UnspecifiedMatching +MONDO:0010603 skos:exactMatch OMIM:306800 hemophilia a with vascular abnormality semapv:UnspecifiedMatching +MONDO:0010604 skos:exactMatch OMIM:306900 hemophilia B semapv:UnspecifiedMatching +MONDO:0010605 skos:exactMatch OMIM:306930 hemopoietic proliferation semapv:UnspecifiedMatching +MONDO:0010606 skos:exactMatch OMIM:306950 diaphragmatic hernia 5, X-linked semapv:UnspecifiedMatching +MONDO:0010607 skos:exactMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:UnspecifiedMatching +MONDO:0010608 skos:exactMatch OMIM:306960 hhhh syndrome semapv:UnspecifiedMatching +MONDO:0010610 skos:exactMatch OMIM:306990 microhydranencephaly, X-linked semapv:UnspecifiedMatching +MONDO:0010611 skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:UnspecifiedMatching +MONDO:0010612 skos:exactMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:UnspecifiedMatching +MONDO:0010613 skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:UnspecifiedMatching +MONDO:0010614 skos:exactMatch OMIM:307150 hypertrichosis, congenital generalized semapv:UnspecifiedMatching +MONDO:0010615 skos:exactMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:UnspecifiedMatching +MONDO:0010617 skos:exactMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:UnspecifiedMatching +MONDO:0010618 skos:exactMatch OMIM:307700 hypoparathyroidism, X-linked semapv:UnspecifiedMatching +MONDO:0010619 skos:exactMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:UnspecifiedMatching +MONDO:0010620 skos:exactMatch OMIM:307830 hypouricemia, familial renal, due to tubular hypersecretion semapv:UnspecifiedMatching +MONDO:0010621 skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:UnspecifiedMatching +MONDO:0010622 skos:exactMatch OMIM:308100 ichthyosis, X-linked semapv:UnspecifiedMatching +MONDO:0010623 skos:exactMatch OMIM:308200 ichthyosis and male hypogonadism semapv:UnspecifiedMatching +MONDO:0010625 skos:exactMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:UnspecifiedMatching +MONDO:0010626 skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:UnspecifiedMatching +MONDO:0010628 skos:exactMatch OMIM:308250 immunoglobulin m, level of semapv:UnspecifiedMatching +MONDO:0010629 skos:exactMatch OMIM:308280 impacted teeth, multiple semapv:UnspecifiedMatching +MONDO:0010630 skos:exactMatch OMIM:308290 imprinting gene related to retinoblastoma semapv:UnspecifiedMatching +MONDO:0010631 skos:exactMatch OMIM:308300 incontinentia pigmenti semapv:UnspecifiedMatching +MONDO:0010632 skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:UnspecifiedMatching +MONDO:0010633 skos:exactMatch OMIM:308500 iris hypoplasia with glaucoma semapv:UnspecifiedMatching +MONDO:0010634 skos:exactMatch OMIM:308600 jaundice, familial obstructive, of infancy semapv:UnspecifiedMatching +MONDO:0010635 skos:exactMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:UnspecifiedMatching +MONDO:0010636 skos:exactMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:UnspecifiedMatching +MONDO:0010637 skos:exactMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:UnspecifiedMatching +MONDO:0010638 skos:exactMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:UnspecifiedMatching +MONDO:0010639 skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:UnspecifiedMatching +MONDO:0010640 skos:exactMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:UnspecifiedMatching +MONDO:0010641 skos:exactMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:UnspecifiedMatching +MONDO:0010642 skos:exactMatch OMIM:308950 lesch-nyhan phenotype with normal hgprt semapv:UnspecifiedMatching +MONDO:0010644 skos:exactMatch OMIM:308990 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis semapv:UnspecifiedMatching +MONDO:0010645 skos:exactMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:UnspecifiedMatching +MONDO:0010646 skos:exactMatch OMIM:309100 macular dystrophy, X-linked semapv:UnspecifiedMatching +MONDO:0010647 skos:exactMatch OMIM:309120 spermatogenic failure, x-linked, 2 semapv:UnspecifiedMatching +MONDO:0010648 skos:exactMatch OMIM:309200 major affective disorder 2 semapv:UnspecifiedMatching +MONDO:0010649 skos:exactMatch OMIM:309300 megalocornea semapv:UnspecifiedMatching +MONDO:0010650 skos:exactMatch OMIM:309350 melnick-needles syndrome semapv:UnspecifiedMatching +MONDO:0010651 skos:exactMatch OMIM:309400 menkes disease semapv:UnspecifiedMatching +MONDO:0010652 skos:exactMatch OMIM:309480 mental retardation and psoriasis semapv:UnspecifiedMatching +MONDO:0010653 skos:exactMatch OMIM:309500 renpenning syndrome 1 semapv:UnspecifiedMatching +MONDO:0010654 skos:exactMatch OMIM:309510 partington syndrome semapv:UnspecifiedMatching +MONDO:0010655 skos:exactMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia semapv:UnspecifiedMatching +MONDO:0010656 skos:exactMatch OMIM:309530 intellectual developmental disorder, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010657 skos:exactMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia semapv:UnspecifiedMatching +MONDO:0010658 skos:exactMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:UnspecifiedMatching +MONDO:0010659 skos:exactMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:UnspecifiedMatching +MONDO:0010660 skos:exactMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:UnspecifiedMatching +MONDO:0010661 skos:exactMatch OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson iia semapv:UnspecifiedMatching +MONDO:0010662 skos:exactMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:UnspecifiedMatching +MONDO:0010663 skos:exactMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:UnspecifiedMatching +MONDO:0010664 skos:exactMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia semapv:UnspecifiedMatching +MONDO:0010665 skos:exactMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner iia semapv:UnspecifiedMatching +MONDO:0010666 skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching +MONDO:0010667 skos:exactMatch OMIM:309610 prieto syndrome semapv:UnspecifiedMatching +MONDO:0010668 skos:exactMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:UnspecifiedMatching +MONDO:0010669 skos:exactMatch OMIM:309630 metacarpal 4-5 fusion semapv:UnspecifiedMatching +MONDO:0010670 skos:exactMatch OMIM:309640 mental retardation with spastic paraplegia semapv:UnspecifiedMatching +MONDO:0010671 skos:exactMatch OMIM:309800 microphthalmia, syndromic 1 semapv:UnspecifiedMatching +MONDO:0010672 skos:exactMatch omim.ps:309801 Linear skin defects with multiple congenital anomalies semapv:UnspecifiedMatching +MONDO:0010673 skos:exactMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:UnspecifiedMatching +MONDO:0010674 skos:exactMatch OMIM:309900 mucopolysaccharidosis, iia 2 semapv:UnspecifiedMatching +MONDO:0010675 skos:exactMatch OMIM:309930 muscular dystrophy, cardiac iia semapv:UnspecifiedMatching +MONDO:0010676 skos:exactMatch OMIM:309950 muscular dystrophy, hemizygous lethal iia semapv:UnspecifiedMatching +MONDO:0010677 skos:exactMatch OMIM:310000 muscular dystrophy, mabry iia semapv:UnspecifiedMatching +MONDO:0010678 skos:exactMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:UnspecifiedMatching +MONDO:0010679 skos:exactMatch OMIM:310200 muscular dystrophy, duchenne iia semapv:UnspecifiedMatching +MONDO:0010681 skos:exactMatch OMIM:310350 myelolymphatic insufficiency semapv:UnspecifiedMatching +MONDO:0010682 skos:exactMatch OMIM:310370 myoclonic epilepsy, progressive semapv:UnspecifiedMatching +MONDO:0010683 skos:exactMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:UnspecifiedMatching +MONDO:0010684 skos:exactMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:UnspecifiedMatching +MONDO:0010685 skos:exactMatch OMIM:310460 myopia 1, X-linked semapv:UnspecifiedMatching +MONDO:0010686 skos:exactMatch OMIM:310465 n syndrome semapv:UnspecifiedMatching +MONDO:0010687 skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:UnspecifiedMatching +MONDO:0010688 skos:exactMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:UnspecifiedMatching +MONDO:0010689 skos:exactMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0010690 skos:exactMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:UnspecifiedMatching +MONDO:0010691 skos:exactMatch OMIM:310600 norrie disease semapv:UnspecifiedMatching +MONDO:0010692 skos:exactMatch OMIM:310650 nuclear ribonucleic acid semapv:UnspecifiedMatching +MONDO:0010693 skos:exactMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:UnspecifiedMatching +MONDO:0010694 skos:exactMatch OMIM:310800 nystagmus, myoclonic semapv:UnspecifiedMatching +MONDO:0010695 skos:exactMatch OMIM:310900 occipital hair, white lock of semapv:UnspecifiedMatching +MONDO:0010696 skos:exactMatch OMIM:310980 omphalocele, X-linked semapv:UnspecifiedMatching +MONDO:0010697 skos:exactMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:UnspecifiedMatching +MONDO:0010698 skos:exactMatch OMIM:311050 optic atrophy 2 semapv:UnspecifiedMatching +MONDO:0010699 skos:exactMatch OMIM:311070 charcot-marie-tooth disease, X-linked recessive, 5 semapv:UnspecifiedMatching +MONDO:0010700 skos:exactMatch OMIM:311100 optic atrophy--spastic paraplegia syndrome semapv:UnspecifiedMatching +MONDO:0010702 skos:exactMatch OMIM:311200 orofaciodigital syndrome 1 semapv:UnspecifiedMatching +MONDO:0010703 skos:exactMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:UnspecifiedMatching +MONDO:0010704 skos:exactMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0010705 skos:exactMatch OMIM:311350 ouabain resistance semapv:UnspecifiedMatching +MONDO:0010706 skos:exactMatch OMIM:311360 premature ovarian failure 1 semapv:UnspecifiedMatching +MONDO:0010707 skos:exactMatch OMIM:311400 paine syndrome semapv:UnspecifiedMatching +MONDO:0010708 skos:exactMatch OMIM:311450 pallister w syndrome semapv:UnspecifiedMatching +MONDO:0010709 skos:exactMatch OMIM:311510 waisman syndrome semapv:UnspecifiedMatching +MONDO:0010710 skos:exactMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:UnspecifiedMatching +MONDO:0010711 skos:exactMatch OMIM:311900 tarp syndrome semapv:UnspecifiedMatching +MONDO:0010712 skos:exactMatch OMIM:312000 panhypopituitarism, X-linked semapv:UnspecifiedMatching +MONDO:0010713 skos:exactMatch OMIM:312060 properdin deficiency, X-linked semapv:UnspecifiedMatching +MONDO:0010714 skos:exactMatch OMIM:312080 pelizaeus-merzbacher disease semapv:UnspecifiedMatching +MONDO:0010716 skos:exactMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010717 skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:UnspecifiedMatching +MONDO:0010718 skos:exactMatch OMIM:312190 radial aplasia, X-linked semapv:UnspecifiedMatching +MONDO:0010719 skos:exactMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:UnspecifiedMatching +MONDO:0010720 skos:exactMatch OMIM:312300 androgen insensitivity, partial semapv:UnspecifiedMatching +MONDO:0010721 skos:exactMatch OMIM:312500 reticuloendotheliosis, X-linked semapv:UnspecifiedMatching +MONDO:0010722 skos:exactMatch OMIM:312550 retinal dysplasia, primary semapv:UnspecifiedMatching +MONDO:0010723 skos:exactMatch OMIM:312600 retinitis pigmentosa 2 semapv:UnspecifiedMatching +MONDO:0010725 skos:exactMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:UnspecifiedMatching +MONDO:0010726 skos:exactMatch OMIM:312750 rett syndrome semapv:UnspecifiedMatching +MONDO:0010727 skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0010728 skos:exactMatch OMIM:312830 scarf syndrome semapv:UnspecifiedMatching +MONDO:0010729 skos:exactMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0010730 skos:exactMatch OMIM:312863 combined immunodeficiency, X-linked semapv:UnspecifiedMatching +MONDO:0010732 skos:exactMatch OMIM:312910 spastic paraparesis and deafness semapv:UnspecifiedMatching +MONDO:0010733 skos:exactMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:UnspecifiedMatching +MONDO:0010734 skos:exactMatch OMIM:313000 spatial visualization, aptitude for semapv:UnspecifiedMatching +MONDO:0010735 skos:exactMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010736 skos:exactMatch OMIM:313350 split-hand/foot malformation 2 semapv:UnspecifiedMatching +MONDO:0010737 skos:exactMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:UnspecifiedMatching +MONDO:0010738 skos:exactMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:UnspecifiedMatching +MONDO:0010739 skos:exactMatch OMIM:313480 taqi polymorphism semapv:UnspecifiedMatching +MONDO:0010740 skos:exactMatch OMIM:313490 taurodontism, microdontia, and dens invaginatus semapv:UnspecifiedMatching +MONDO:0010741 skos:exactMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:UnspecifiedMatching +MONDO:0010742 skos:exactMatch OMIM:313850 thoracoabdominal syndrome semapv:UnspecifiedMatching +MONDO:0010743 skos:exactMatch OMIM:313900 thrombocytopenia 1 semapv:UnspecifiedMatching +MONDO:0010744 skos:exactMatch OMIM:314000 thrombocytopenia with elevated serum iga and renal disease semapv:UnspecifiedMatching +MONDO:0010745 skos:exactMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:UnspecifiedMatching +MONDO:0010746 skos:exactMatch OMIM:314100 adducted thumbs, congenital semapv:UnspecifiedMatching +MONDO:0010747 skos:exactMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:UnspecifiedMatching +MONDO:0010748 skos:exactMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:UnspecifiedMatching +MONDO:0010749 skos:exactMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:UnspecifiedMatching +MONDO:0010750 skos:exactMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:UnspecifiedMatching +MONDO:0010751 skos:exactMatch OMIM:314380 unique green phenomenon semapv:UnspecifiedMatching +MONDO:0010752 skos:exactMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:UnspecifiedMatching +MONDO:0010753 skos:exactMatch OMIM:314400 cardiac valvular dysplasia, X-linked semapv:UnspecifiedMatching +MONDO:0010754 skos:exactMatch OMIM:314500 van den bosch syndrome semapv:UnspecifiedMatching +MONDO:0010755 skos:exactMatch OMIM:314550 vesicoureteral reflux, X-linked semapv:UnspecifiedMatching +MONDO:0010756 skos:exactMatch OMIM:314560 von willebrand disease, X-linked form semapv:UnspecifiedMatching +MONDO:0010757 skos:exactMatch OMIM:314570 widow's peak syndrome semapv:UnspecifiedMatching +MONDO:0010758 skos:exactMatch OMIM:314580 wieacker-wolff syndrome semapv:UnspecifiedMatching +MONDO:0010759 skos:exactMatch OMIM:314600 wildervanck syndrome semapv:UnspecifiedMatching +MONDO:0010760 skos:exactMatch OMIM:314800 xh antigen semapv:UnspecifiedMatching +MONDO:0010761 skos:exactMatch OMIM:400004 retinitis pigmentosa, Y-linked semapv:UnspecifiedMatching +MONDO:0010762 skos:exactMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:UnspecifiedMatching +MONDO:0010763 skos:exactMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:UnspecifiedMatching +MONDO:0010764 skos:exactMatch OMIM:400043 deafness, Y-linked 1 semapv:UnspecifiedMatching +MONDO:0010765 skos:exactMatch omim.ps:400044 46,XY sex reversal semapv:UnspecifiedMatching +MONDO:0010767 skos:exactMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:UnspecifiedMatching +MONDO:0010769 skos:exactMatch OMIM:425500 hairy ears, Y-linked semapv:UnspecifiedMatching +MONDO:0010770 skos:exactMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:UnspecifiedMatching +MONDO:0010771 skos:exactMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:UnspecifiedMatching +MONDO:0010772 skos:exactMatch OMIM:500001 leber optic atrophy and dystonia semapv:UnspecifiedMatching +MONDO:0010773 skos:exactMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:UnspecifiedMatching +MONDO:0010774 skos:exactMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:UnspecifiedMatching +MONDO:0010775 skos:exactMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:UnspecifiedMatching +MONDO:0010776 skos:exactMatch OMIM:500005 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial semapv:UnspecifiedMatching +MONDO:0010777 skos:exactMatch OMIM:500006 cardiomyopathy, infantile hypertrophic semapv:UnspecifiedMatching +MONDO:0010778 skos:exactMatch OMIM:500007 cyclic vomiting syndrome semapv:UnspecifiedMatching +MONDO:0010779 skos:exactMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:UnspecifiedMatching +MONDO:0010780 skos:exactMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:UnspecifiedMatching +MONDO:0010781 skos:exactMatch OMIM:500010 ataxia and polyneuropathy, adult-onset semapv:UnspecifiedMatching +MONDO:0010782 skos:exactMatch OMIM:500011 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:UnspecifiedMatching +MONDO:0010784 skos:exactMatch OMIM:515000 chloramphenicol toxicity semapv:UnspecifiedMatching +MONDO:0010785 skos:exactMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:UnspecifiedMatching +MONDO:0010786 skos:exactMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:UnspecifiedMatching +MONDO:0010787 skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:UnspecifiedMatching +MONDO:0010788 skos:exactMatch OMIM:535000 leber optic atrophy semapv:UnspecifiedMatching +MONDO:0010789 skos:exactMatch OMIM:540000 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes semapv:UnspecifiedMatching +MONDO:0010790 skos:exactMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:UnspecifiedMatching +MONDO:0010791 skos:exactMatch OMIM:550500 myoglobinuria, recurrent semapv:UnspecifiedMatching +MONDO:0010792 skos:exactMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:UnspecifiedMatching +MONDO:0010793 skos:exactMatch OMIM:551200 nephropathy, chronic tubulointerstitial semapv:UnspecifiedMatching +MONDO:0010794 skos:exactMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0010795 skos:exactMatch OMIM:553000 oncocytoma semapv:UnspecifiedMatching +MONDO:0010796 skos:exactMatch OMIM:556500 parkinson disease, mitochondrial semapv:UnspecifiedMatching +MONDO:0010797 skos:exactMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:UnspecifiedMatching +MONDO:0010798 skos:exactMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0010799 skos:exactMatch OMIM:580000 deafness, aminoglycoside-induced semapv:UnspecifiedMatching +MONDO:0010800 skos:exactMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:UnspecifiedMatching +MONDO:0010801 skos:exactMatch OMIM:600000 spondylocamptodactyly semapv:UnspecifiedMatching +MONDO:0010802 skos:exactMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:UnspecifiedMatching +MONDO:0010803 skos:exactMatch OMIM:600002 eiken syndrome semapv:UnspecifiedMatching +MONDO:0010804 skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching +MONDO:0010806 skos:exactMatch OMIM:600059 retinitis pigmentosa 13 semapv:UnspecifiedMatching +MONDO:0010807 skos:exactMatch OMIM:600060 deafness, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0010808 skos:exactMatch OMIM:600072 fatal familial insomnia semapv:UnspecifiedMatching +MONDO:0010809 skos:exactMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:UnspecifiedMatching +MONDO:0010810 skos:exactMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:UnspecifiedMatching +MONDO:0010811 skos:exactMatch OMIM:600082 prostatic hyperplasia, benign semapv:UnspecifiedMatching +MONDO:0010812 skos:exactMatch OMIM:600084 macrocytosis, familial semapv:UnspecifiedMatching +MONDO:0010813 skos:exactMatch OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus semapv:UnspecifiedMatching +MONDO:0010814 skos:exactMatch OMIM:600092 nivelon-nivelon-mabille syndrome semapv:UnspecifiedMatching +MONDO:0010815 skos:exactMatch OMIM:600093 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:UnspecifiedMatching +MONDO:0010816 skos:exactMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:UnspecifiedMatching +MONDO:0010817 skos:exactMatch OMIM:600101 deafness, autosomal dominant 2a semapv:UnspecifiedMatching +MONDO:0010818 skos:exactMatch OMIM:600105 retinitis pigmentosa 12 semapv:UnspecifiedMatching +MONDO:0010819 skos:exactMatch OMIM:600110 stargardt disease 3 semapv:UnspecifiedMatching +MONDO:0010820 skos:exactMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:UnspecifiedMatching +MONDO:0010821 skos:exactMatch OMIM:600117 dysphasia, familial developmental semapv:UnspecifiedMatching +MONDO:0010822 skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:UnspecifiedMatching +MONDO:0010823 skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:UnspecifiedMatching +MONDO:0010824 skos:exactMatch OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia semapv:UnspecifiedMatching +MONDO:0010825 skos:exactMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:UnspecifiedMatching +MONDO:0010826 skos:exactMatch omim.ps:600131 Epilepsy, childhood absence semapv:UnspecifiedMatching +MONDO:0010827 skos:exactMatch OMIM:600132 retinitis pigmentosa 14 semapv:UnspecifiedMatching +MONDO:0010828 skos:exactMatch OMIM:600138 retinitis pigmentosa 11 semapv:UnspecifiedMatching +MONDO:0010829 skos:exactMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0010830 skos:exactMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:UnspecifiedMatching +MONDO:0010831 skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:UnspecifiedMatching +MONDO:0010832 skos:exactMatch OMIM:600151 bardet-biedl syndrome 3 semapv:UnspecifiedMatching +MONDO:0010833 skos:exactMatch OMIM:600155 hirschsprung disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0010834 skos:exactMatch OMIM:600156 hirschsprung disease, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0010835 skos:exactMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:UnspecifiedMatching +MONDO:0010836 skos:exactMatch OMIM:600165 nanophthalmos 1 semapv:UnspecifiedMatching +MONDO:0010838 skos:exactMatch OMIM:600171 gonadal agenesis semapv:UnspecifiedMatching +MONDO:0010839 skos:exactMatch OMIM:600175 neuronopathy, distal hereditary motor, autosomal dominant 8 semapv:UnspecifiedMatching +MONDO:0010840 skos:exactMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:UnspecifiedMatching +MONDO:0010841 skos:exactMatch OMIM:600193 waardenburg syndrome, iia 2b semapv:UnspecifiedMatching +MONDO:0010842 skos:exactMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:UnspecifiedMatching +MONDO:0010843 skos:exactMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0010844 skos:exactMatch OMIM:600204 epiphyseal dysplasia, multiple, 2 semapv:UnspecifiedMatching +MONDO:0010846 skos:exactMatch OMIM:600209 exostoses, multiple, iia 3 semapv:UnspecifiedMatching +MONDO:0010847 skos:exactMatch OMIM:600223 spinocerebellar ataxia 4 semapv:UnspecifiedMatching +MONDO:0010848 skos:exactMatch OMIM:600224 spinocerebellar ataxia 5 semapv:UnspecifiedMatching +MONDO:0010849 skos:exactMatch OMIM:600231 palmoplantar keratoderma, bothnian iia semapv:UnspecifiedMatching +MONDO:0010850 skos:exactMatch OMIM:600251 facial clefting, oblique, 1 semapv:UnspecifiedMatching +MONDO:0010851 skos:exactMatch OMIM:600252 lowry-maclean syndrome semapv:UnspecifiedMatching +MONDO:0010852 skos:exactMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:UnspecifiedMatching +MONDO:0010853 skos:exactMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:UnspecifiedMatching +MONDO:0010854 skos:exactMatch OMIM:600268 oculoectodermal syndrome semapv:UnspecifiedMatching +MONDO:0010855 skos:exactMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:UnspecifiedMatching +MONDO:0010856 skos:exactMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:UnspecifiedMatching +MONDO:0010857 skos:exactMatch OMIM:600274 frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0010858 skos:exactMatch OMIM:600302 fryns macrocephaly semapv:UnspecifiedMatching +MONDO:0010859 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching +MONDO:0010860 skos:exactMatch OMIM:600316 deafness, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0010861 skos:exactMatch OMIM:600318 iia 1 diabetes mellitus 3 semapv:UnspecifiedMatching +MONDO:0010862 skos:exactMatch OMIM:600319 iia 1 diabetes mellitus 4 semapv:UnspecifiedMatching +MONDO:0010863 skos:exactMatch OMIM:600320 iia 1 diabetes mellitus 5 semapv:UnspecifiedMatching +MONDO:0010864 skos:exactMatch OMIM:600321 iia 1 diabetes mellitus 7 semapv:UnspecifiedMatching +MONDO:0010865 skos:exactMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:UnspecifiedMatching +MONDO:0010866 skos:exactMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:UnspecifiedMatching +MONDO:0010867 skos:exactMatch OMIM:600331 parc syndrome semapv:UnspecifiedMatching +MONDO:0010868 skos:exactMatch OMIM:600332 rippling muscle disease 1 semapv:UnspecifiedMatching +MONDO:0010869 skos:exactMatch OMIM:600333 motor neuron disease with dementia and ophthalmoplegia semapv:UnspecifiedMatching +MONDO:0010870 skos:exactMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:UnspecifiedMatching +MONDO:0010871 skos:exactMatch OMIM:600335 succinic acidemia semapv:UnspecifiedMatching +MONDO:0010872 skos:exactMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:UnspecifiedMatching +MONDO:0010873 skos:exactMatch OMIM:600348 band heterotopia semapv:UnspecifiedMatching +MONDO:0010874 skos:exactMatch OMIM:600351 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency semapv:UnspecifiedMatching +MONDO:0010875 skos:exactMatch OMIM:600356 pachydermodactyly, familial semapv:UnspecifiedMatching +MONDO:0010876 skos:exactMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010877 skos:exactMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:UnspecifiedMatching +MONDO:0010878 skos:exactMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:UnspecifiedMatching +MONDO:0010879 skos:exactMatch OMIM:600373 codas syndrome semapv:UnspecifiedMatching +MONDO:0010880 skos:exactMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:UnspecifiedMatching +MONDO:0010881 skos:exactMatch OMIM:600383 mesomelia-synostoses syndrome semapv:UnspecifiedMatching +MONDO:0010882 skos:exactMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:UnspecifiedMatching +MONDO:0010883 skos:exactMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:UnspecifiedMatching +MONDO:0010884 skos:exactMatch OMIM:600416 muscular dystrophy, scapulohumeral semapv:UnspecifiedMatching +MONDO:0010885 skos:exactMatch OMIM:600419 angiokeratoma corporis diffusum with arteriovenous fistulas semapv:UnspecifiedMatching +MONDO:0010886 skos:exactMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:UnspecifiedMatching +MONDO:0010887 skos:exactMatch OMIM:600457 hypertrichosis, anterior cervical semapv:UnspecifiedMatching +MONDO:0010888 skos:exactMatch OMIM:600458 adenomyosis semapv:UnspecifiedMatching +MONDO:0010889 skos:exactMatch OMIM:600459 arterial dissection with lentiginosis semapv:UnspecifiedMatching +MONDO:0010890 skos:exactMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:UnspecifiedMatching +MONDO:0010891 skos:exactMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:UnspecifiedMatching +MONDO:0010893 skos:exactMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0010894 skos:exactMatch OMIM:600496 maturity-onset diabetes of the young, iia 3 semapv:UnspecifiedMatching +MONDO:0010895 skos:exactMatch OMIM:600501 abcd syndrome semapv:UnspecifiedMatching +MONDO:0010896 skos:exactMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:UnspecifiedMatching +MONDO:0010897 skos:exactMatch OMIM:600511 schizophrenia 3 semapv:UnspecifiedMatching +MONDO:0010899 skos:exactMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:UnspecifiedMatching +MONDO:0010900 skos:exactMatch OMIM:600546 intrauterine growth retardation with increased mitomycin c sensitivity semapv:UnspecifiedMatching +MONDO:0010901 skos:exactMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:UnspecifiedMatching +MONDO:0010902 skos:exactMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:UnspecifiedMatching +MONDO:0010903 skos:exactMatch OMIM:600593 craniosynostosis, adelaide iia semapv:UnspecifiedMatching +MONDO:0010904 skos:exactMatch OMIM:600598 setting-sun phenomenon, familial benign semapv:UnspecifiedMatching +MONDO:0010905 skos:exactMatch OMIM:600624 cone-rod dystrophy 1 semapv:UnspecifiedMatching +MONDO:0010906 skos:exactMatch OMIM:600625 orofacial cleft 11 semapv:UnspecifiedMatching +MONDO:0010907 skos:exactMatch OMIM:600627 hypertryptophanemia semapv:UnspecifiedMatching +MONDO:0010908 skos:exactMatch OMIM:600628 loose anagen hair syndrome semapv:UnspecifiedMatching +MONDO:0010909 skos:exactMatch OMIM:600630 uv-sensitive syndrome 1 semapv:UnspecifiedMatching +MONDO:0010910 skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:UnspecifiedMatching +MONDO:0010912 skos:exactMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:UnspecifiedMatching +MONDO:0010913 skos:exactMatch OMIM:600643 caroli disease, isolated semapv:UnspecifiedMatching +MONDO:0010914 skos:exactMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:UnspecifiedMatching +MONDO:0010915 skos:exactMatch OMIM:600652 deafness, autosomal dominant 4a semapv:UnspecifiedMatching +MONDO:0010916 skos:exactMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:UnspecifiedMatching +MONDO:0010917 skos:exactMatch OMIM:600668 chondrocalcinosis 1 semapv:UnspecifiedMatching +MONDO:0010919 skos:exactMatch OMIM:600670 varicella, severe recurrent semapv:UnspecifiedMatching +MONDO:0010920 skos:exactMatch OMIM:600674 microtia-anotia semapv:UnspecifiedMatching +MONDO:0010921 skos:exactMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:UnspecifiedMatching +MONDO:0010922 skos:exactMatch OMIM:600705 satoyoshi syndrome semapv:UnspecifiedMatching +MONDO:0010923 skos:exactMatch OMIM:600706 proximal myopathy with focal depletion of mitochondria semapv:UnspecifiedMatching +MONDO:0010924 skos:exactMatch omim.ps:600721 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching +MONDO:0010925 skos:exactMatch OMIM:600736 velofacioskeletal syndrome semapv:UnspecifiedMatching +MONDO:0010926 skos:exactMatch OMIM:600740 hypocalciuric hypercalcemia, familial, iia 3 semapv:UnspecifiedMatching +MONDO:0010927 skos:exactMatch OMIM:600757 orofacial cleft 3 semapv:UnspecifiedMatching +MONDO:0010928 skos:exactMatch OMIM:600771 dwarfism, familial, with muscle spasms semapv:UnspecifiedMatching +MONDO:0010929 skos:exactMatch OMIM:600775 craniosynostosis 4 semapv:UnspecifiedMatching +MONDO:0010930 skos:exactMatch OMIM:600776 fryns microphthalmia syndrome semapv:UnspecifiedMatching +MONDO:0010931 skos:exactMatch OMIM:600785 vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:UnspecifiedMatching +MONDO:0010932 skos:exactMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:UnspecifiedMatching +MONDO:0010933 skos:exactMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:UnspecifiedMatching +MONDO:0010936 skos:exactMatch OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching +MONDO:0010937 skos:exactMatch OMIM:600801 isoproterenol-mediated vasodilatation semapv:UnspecifiedMatching +MONDO:0010938 skos:exactMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:UnspecifiedMatching +MONDO:0010939 skos:exactMatch OMIM:600803 gallbladder disease 1 semapv:UnspecifiedMatching +MONDO:0010940 skos:exactMatch OMIM:600807 asthma, susceptibility to semapv:UnspecifiedMatching +MONDO:0010941 skos:exactMatch OMIM:600808 enuresis, nocturnal, 2 semapv:UnspecifiedMatching +MONDO:0010942 skos:exactMatch OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 semapv:UnspecifiedMatching +MONDO:0010943 skos:exactMatch OMIM:600850 schizophrenia 4 semapv:UnspecifiedMatching +MONDO:0010944 skos:exactMatch OMIM:600851 mitochondrial import-stimulating factor semapv:UnspecifiedMatching +MONDO:0010945 skos:exactMatch OMIM:600852 retinitis pigmentosa 17 semapv:UnspecifiedMatching +MONDO:0010946 skos:exactMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:UnspecifiedMatching +MONDO:0010947 skos:exactMatch OMIM:600880 budd-chiari syndrome semapv:UnspecifiedMatching +MONDO:0010948 skos:exactMatch OMIM:600881 cataract 10, multiple types semapv:UnspecifiedMatching +MONDO:0010949 skos:exactMatch OMIM:600882 charcot-marie-tooth disease, axonal, iia 2b semapv:UnspecifiedMatching +MONDO:0010950 skos:exactMatch OMIM:600883 iia 1 diabetes mellitus 8 semapv:UnspecifiedMatching +MONDO:0010951 skos:exactMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:UnspecifiedMatching +MONDO:0010952 skos:exactMatch OMIM:600886 hyperferritinemia with or without cataract semapv:UnspecifiedMatching +MONDO:0010953 skos:exactMatch OMIM:600901 fanconi anemia, complementation group e semapv:UnspecifiedMatching +MONDO:0010954 skos:exactMatch OMIM:600903 wiskott-aldrich syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0010955 skos:exactMatch OMIM:600906 ectodermal dysplasia with mental retardation and syndactyly semapv:UnspecifiedMatching +MONDO:0010956 skos:exactMatch OMIM:600907 enamel hypoplasia, cataracts, and aqueductal stenosis semapv:UnspecifiedMatching +MONDO:0010958 skos:exactMatch OMIM:600919 cardiac arrhythmia, ankyrin-b-related semapv:UnspecifiedMatching +MONDO:0010959 skos:exactMatch OMIM:600920 van den ende-gupta syndrome semapv:UnspecifiedMatching +MONDO:0010960 skos:exactMatch OMIM:600931 protocadherin 3 semapv:UnspecifiedMatching +MONDO:0010961 skos:exactMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:UnspecifiedMatching +MONDO:0010962 skos:exactMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:UnspecifiedMatching +MONDO:0010963 skos:exactMatch OMIM:600965 deafness, autosomal dominant 6 semapv:UnspecifiedMatching +MONDO:0010964 skos:exactMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:UnspecifiedMatching +MONDO:0010965 skos:exactMatch OMIM:600971 deafness, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0010966 skos:exactMatch OMIM:600972 achondrogenesis, iia 1b semapv:UnspecifiedMatching +MONDO:0010967 skos:exactMatch OMIM:600974 deafness, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0010968 skos:exactMatch OMIM:600975 glaucoma 3, primary infantile, B semapv:UnspecifiedMatching +MONDO:0010969 skos:exactMatch OMIM:600977 cone-rod dystrophy 5 semapv:UnspecifiedMatching +MONDO:0010970 skos:exactMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0010971 skos:exactMatch OMIM:600989 infundibulopelvic dysgenesis semapv:UnspecifiedMatching +MONDO:0010972 skos:exactMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:UnspecifiedMatching +MONDO:0010973 skos:exactMatch OMIM:600994 deafness, autosomal dominant 5 semapv:UnspecifiedMatching +MONDO:0010974 skos:exactMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0010976 skos:exactMatch OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010977 skos:exactMatch OMIM:601003 brody disease semapv:UnspecifiedMatching +MONDO:0010978 skos:exactMatch OMIM:601004 portal vein, cavernous transformation of semapv:UnspecifiedMatching +MONDO:0010979 skos:exactMatch OMIM:601005 timothy syndrome semapv:UnspecifiedMatching +MONDO:0010980 skos:exactMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:UnspecifiedMatching +MONDO:0010981 skos:exactMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:UnspecifiedMatching +MONDO:0010982 skos:exactMatch OMIM:601039 ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin semapv:UnspecifiedMatching +MONDO:0010983 skos:exactMatch OMIM:601042 dystonia 9 semapv:UnspecifiedMatching +MONDO:0010984 skos:exactMatch OMIM:601067 usher syndrome, iia 1d semapv:UnspecifiedMatching +MONDO:0010985 skos:exactMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:UnspecifiedMatching +MONDO:0010986 skos:exactMatch OMIM:601071 deafness, autosomal recessive 9 semapv:UnspecifiedMatching +MONDO:0010987 skos:exactMatch OMIM:601072 deafness, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0010988 skos:exactMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:UnspecifiedMatching +MONDO:0010989 skos:exactMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:UnspecifiedMatching +MONDO:0010990 skos:exactMatch OMIM:601083 cd4/cd8 t-cell ratio semapv:UnspecifiedMatching +MONDO:0010991 skos:exactMatch OMIM:601086 laterality defects, autosomal dominant semapv:UnspecifiedMatching +MONDO:0010992 skos:exactMatch OMIM:601088 ayme-gripp syndrome semapv:UnspecifiedMatching +MONDO:0010993 skos:exactMatch OMIM:601095 harrod syndrome semapv:UnspecifiedMatching +MONDO:0010994 skos:exactMatch OMIM:601096 spondyloepimetaphyseal dysplasia, micromelic semapv:UnspecifiedMatching +MONDO:0010995 skos:exactMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c semapv:UnspecifiedMatching +MONDO:0010996 skos:exactMatch OMIM:601101 telangiectasia, hereditary hemorrhagic, iia 3 semapv:UnspecifiedMatching +MONDO:0010997 skos:exactMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:UnspecifiedMatching +MONDO:0010998 skos:exactMatch OMIM:601110 congenital disorder of glycosylation, iia id semapv:UnspecifiedMatching +MONDO:0010999 skos:exactMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:UnspecifiedMatching +MONDO:0011000 skos:exactMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:UnspecifiedMatching +MONDO:0011001 skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:UnspecifiedMatching +MONDO:0011002 skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:UnspecifiedMatching +MONDO:0011003 skos:exactMatch OMIM:601154 cardiomyopathy, dilated, 1e semapv:UnspecifiedMatching +MONDO:0011004 skos:exactMatch OMIM:601160 lissencephaly iia 3 and bone dysplasia semapv:UnspecifiedMatching +MONDO:0011005 skos:exactMatch OMIM:601161 trisomy 18-like syndrome semapv:UnspecifiedMatching +MONDO:0011006 skos:exactMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011007 skos:exactMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:UnspecifiedMatching +MONDO:0011008 skos:exactMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:UnspecifiedMatching +MONDO:0011009 skos:exactMatch OMIM:601170 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers semapv:UnspecifiedMatching +MONDO:0011010 skos:exactMatch OMIM:601186 microphthalmia, syndromic 9 semapv:UnspecifiedMatching +MONDO:0011011 skos:exactMatch OMIM:601187 gurrieri syndrome semapv:UnspecifiedMatching +MONDO:0011012 skos:exactMatch OMIM:601195 iron overload 1n africa semapv:UnspecifiedMatching +MONDO:0011013 skos:exactMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0011014 skos:exactMatch OMIM:601200 pleuropulmonary blastoma semapv:UnspecifiedMatching +MONDO:0011015 skos:exactMatch OMIM:601202 cataract 24 semapv:UnspecifiedMatching +MONDO:0011016 skos:exactMatch OMIM:601208 iia 1 diabetes mellitus 11 semapv:UnspecifiedMatching +MONDO:0011017 skos:exactMatch OMIM:601214 naxos disease semapv:UnspecifiedMatching +MONDO:0011018 skos:exactMatch OMIM:601216 dental anomalies and short stature semapv:UnspecifiedMatching +MONDO:0011019 skos:exactMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0011020 skos:exactMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:UnspecifiedMatching +MONDO:0011021 skos:exactMatch OMIM:601223 neuronal intestinal dysplasia, iia B semapv:UnspecifiedMatching +MONDO:0011022 skos:exactMatch OMIM:601224 potocki-shaffer syndrome semapv:UnspecifiedMatching +MONDO:0011023 skos:exactMatch omim.ps:601228 Polyposis syndrome, hereditary mixed semapv:UnspecifiedMatching +MONDO:0011024 skos:exactMatch OMIM:601230 dermatitis herpetiformis, familial semapv:UnspecifiedMatching +MONDO:0011025 skos:exactMatch OMIM:601238 cerebellar ataxia, cayman iia semapv:UnspecifiedMatching +MONDO:0011026 skos:exactMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:UnspecifiedMatching +MONDO:0011027 skos:exactMatch OMIM:601283 iia 2 diabetes mellitus 1 semapv:UnspecifiedMatching +MONDO:0011028 skos:exactMatch OMIM:601287 muscular dystrophy, limb-girdle, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0011029 skos:exactMatch OMIM:601308 myeloid tumor suppressor semapv:UnspecifiedMatching +MONDO:0011030 skos:exactMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:UnspecifiedMatching +MONDO:0011031 skos:exactMatch OMIM:601316 deafness, autosomal dominant 10 semapv:UnspecifiedMatching +MONDO:0011032 skos:exactMatch OMIM:601317 deafness, autosomal dominant 11 semapv:UnspecifiedMatching +MONDO:0011033 skos:exactMatch OMIM:601318 iia 1 diabetes mellitus 13 semapv:UnspecifiedMatching +MONDO:0011034 skos:exactMatch OMIM:601319 odontomicronychial dysplasia semapv:UnspecifiedMatching +MONDO:0011035 skos:exactMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:UnspecifiedMatching +MONDO:0011036 skos:exactMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:UnspecifiedMatching +MONDO:0011037 skos:exactMatch OMIM:601331 renal dysplasia, cystic, susceptibility to semapv:UnspecifiedMatching +MONDO:0011038 skos:exactMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:UnspecifiedMatching +MONDO:0011039 skos:exactMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:UnspecifiedMatching +MONDO:0011040 skos:exactMatch OMIM:601344 spinal dysplasia, anhalt iia semapv:UnspecifiedMatching +MONDO:0011041 skos:exactMatch OMIM:601345 ectodermal dysplasia with natal teeth, turnpenny iia semapv:UnspecifiedMatching +MONDO:0011042 skos:exactMatch OMIM:601346 martinez-frias syndrome semapv:UnspecifiedMatching +MONDO:0011043 skos:exactMatch OMIM:601347 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay semapv:UnspecifiedMatching +MONDO:0011044 skos:exactMatch OMIM:601348 ectrodactyly of lower limbs, congenital heart defect, and micrognathia semapv:UnspecifiedMatching +MONDO:0011045 skos:exactMatch OMIM:601349 microphthalmia, syndromic 8 semapv:UnspecifiedMatching +MONDO:0011046 skos:exactMatch OMIM:601350 short stature syndrome, brussels iia semapv:UnspecifiedMatching +MONDO:0011047 skos:exactMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:UnspecifiedMatching +MONDO:0011048 skos:exactMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:UnspecifiedMatching +MONDO:0011049 skos:exactMatch OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0011050 skos:exactMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:UnspecifiedMatching +MONDO:0011051 skos:exactMatch OMIM:601356 lethal short-limb skeletal dysplasia, al gazali iia semapv:UnspecifiedMatching +MONDO:0011052 skos:exactMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:UnspecifiedMatching +MONDO:0011053 skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:UnspecifiedMatching +MONDO:0011054 skos:exactMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:UnspecifiedMatching +MONDO:0011055 skos:exactMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:UnspecifiedMatching +MONDO:0011056 skos:exactMatch OMIM:601363 wilms tumor 4 semapv:UnspecifiedMatching +MONDO:0011058 skos:exactMatch OMIM:601369 deafness, autosomal dominant 9 semapv:UnspecifiedMatching +MONDO:0011059 skos:exactMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:UnspecifiedMatching +MONDO:0011060 skos:exactMatch OMIM:601371 cataract, age-related nuclear semapv:UnspecifiedMatching +MONDO:0011061 skos:exactMatch OMIM:601372 chorea, remitting, with nystagmus and cataract semapv:UnspecifiedMatching +MONDO:0011062 skos:exactMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:UnspecifiedMatching +MONDO:0011063 skos:exactMatch OMIM:601375 ectodermal dysplasia, hidrotic, christianson-fourie iia semapv:UnspecifiedMatching +MONDO:0011064 skos:exactMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:UnspecifiedMatching +MONDO:0011065 skos:exactMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:UnspecifiedMatching +MONDO:0011066 skos:exactMatch OMIM:601382 charcot-marie-tooth disease, iia 4b1 semapv:UnspecifiedMatching +MONDO:0011067 skos:exactMatch OMIM:601386 deafness, autosomal recessive 12 semapv:UnspecifiedMatching +MONDO:0011068 skos:exactMatch OMIM:601388 iia 1 diabetes mellitus 12 semapv:UnspecifiedMatching +MONDO:0011069 skos:exactMatch OMIM:601389 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction semapv:UnspecifiedMatching +MONDO:0011070 skos:exactMatch OMIM:601390 van maldergem syndrome 1 semapv:UnspecifiedMatching +MONDO:0011072 skos:exactMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:UnspecifiedMatching +MONDO:0011073 skos:exactMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:UnspecifiedMatching +MONDO:0011074 skos:exactMatch OMIM:601412 deafness, autosomal dominant 7 semapv:UnspecifiedMatching +MONDO:0011075 skos:exactMatch OMIM:601414 retinitis pigmentosa 18 semapv:UnspecifiedMatching +MONDO:0011076 skos:exactMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:UnspecifiedMatching +MONDO:0011077 skos:exactMatch OMIM:601420 microcephaly, corpus callosum dysgenesis, and cleft lip/palate semapv:UnspecifiedMatching +MONDO:0011078 skos:exactMatch OMIM:601427 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis semapv:UnspecifiedMatching +MONDO:0011079 skos:exactMatch OMIM:601438 rhizomelic dysplasia, patterson-lowry iia semapv:UnspecifiedMatching +MONDO:0011080 skos:exactMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:UnspecifiedMatching +MONDO:0011081 skos:exactMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0011082 skos:exactMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:UnspecifiedMatching +MONDO:0011083 skos:exactMatch OMIM:601453 trichodental dysplasia semapv:UnspecifiedMatching +MONDO:0011084 skos:exactMatch OMIM:601454 psoriasis 3, susceptibility to semapv:UnspecifiedMatching +MONDO:0011085 skos:exactMatch OMIM:601455 charcot-marie-tooth disease, iia 4d semapv:UnspecifiedMatching +MONDO:0011086 skos:exactMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:UnspecifiedMatching +MONDO:0011087 skos:exactMatch OMIM:601458 inflammatory bowel disease 2 semapv:UnspecifiedMatching +MONDO:0011088 skos:exactMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:UnspecifiedMatching +MONDO:0011089 skos:exactMatch OMIM:601466 patent ductus venosus semapv:UnspecifiedMatching +MONDO:0011090 skos:exactMatch omim.ps:601471 Facial paresis, hereditary congenital semapv:UnspecifiedMatching +MONDO:0011091 skos:exactMatch OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d semapv:UnspecifiedMatching +MONDO:0011092 skos:exactMatch OMIM:601477 ribbing disease semapv:UnspecifiedMatching +MONDO:0011093 skos:exactMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:UnspecifiedMatching +MONDO:0011094 skos:exactMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:UnspecifiedMatching +MONDO:0011095 skos:exactMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:UnspecifiedMatching +MONDO:0011097 skos:exactMatch OMIM:601499 axenfeld-rieger syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0011098 skos:exactMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:UnspecifiedMatching +MONDO:0011099 skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching +MONDO:0011100 skos:exactMatch OMIM:601537 microcephaly, retinitis pigmentosa, and sutural cataract semapv:UnspecifiedMatching +MONDO:0011101 skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:UnspecifiedMatching +MONDO:0011102 skos:exactMatch OMIM:601543 deafness, autosomal dominant 12 semapv:UnspecifiedMatching +MONDO:0011103 skos:exactMatch OMIM:601544 deafness, autosomal dominant 3a semapv:UnspecifiedMatching +MONDO:0011104 skos:exactMatch OMIM:601547 cataract 3, multiple types semapv:UnspecifiedMatching +MONDO:0011105 skos:exactMatch OMIM:601549 alacrima, congenital, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011106 skos:exactMatch OMIM:601552 traboulsi syndrome semapv:UnspecifiedMatching +MONDO:0011107 skos:exactMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:UnspecifiedMatching +MONDO:0011109 skos:exactMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:UnspecifiedMatching +MONDO:0011110 skos:exactMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:UnspecifiedMatching +MONDO:0011111 skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching +MONDO:0011112 skos:exactMatch OMIM:601583 wilms tumor 5 semapv:UnspecifiedMatching +MONDO:0011113 skos:exactMatch OMIM:601596 charcot-marie-tooth disease, iia 4c semapv:UnspecifiedMatching +MONDO:0011115 skos:exactMatch OMIM:601608 spastic paraplegia and evans syndrome semapv:UnspecifiedMatching +MONDO:0011116 skos:exactMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:UnspecifiedMatching +MONDO:0011117 skos:exactMatch OMIM:601616 iris pigment epithelium anomalies semapv:UnspecifiedMatching +MONDO:0011120 skos:exactMatch OMIM:601634 neural tube defects, folate-sensitive semapv:UnspecifiedMatching +MONDO:0011121 skos:exactMatch OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 semapv:UnspecifiedMatching +MONDO:0011123 skos:exactMatch OMIM:601666 iia 1 diabetes mellitus 15 semapv:UnspecifiedMatching +MONDO:0011124 skos:exactMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:UnspecifiedMatching +MONDO:0011125 skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:UnspecifiedMatching +MONDO:0011126 skos:exactMatch OMIM:601676 acute insulin response semapv:UnspecifiedMatching +MONDO:0011129 skos:exactMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:UnspecifiedMatching +MONDO:0011130 skos:exactMatch OMIM:601700 sebaceous gland hyperplasia, familial presenile semapv:UnspecifiedMatching +MONDO:0011131 skos:exactMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0011132 skos:exactMatch OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:UnspecifiedMatching +MONDO:0011133 skos:exactMatch OMIM:601706 yemenite deaf-blind hypopigmentation syndrome semapv:UnspecifiedMatching +MONDO:0011134 skos:exactMatch OMIM:601707 curry-jones syndrome semapv:UnspecifiedMatching +MONDO:0011135 skos:exactMatch OMIM:601708 superior transverse scapular ligament, calcification of, familial semapv:UnspecifiedMatching +MONDO:0011136 skos:exactMatch OMIM:601709 quebec platelet disorder semapv:UnspecifiedMatching +MONDO:0011137 skos:exactMatch OMIM:601718 retinitis pigmentosa 19 semapv:UnspecifiedMatching +MONDO:0011138 skos:exactMatch OMIM:601744 systemic lupus erythematosus, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011139 skos:exactMatch OMIM:601759 preaxial hallucal polydactyly semapv:UnspecifiedMatching +MONDO:0011141 skos:exactMatch OMIM:601775 megaloblastic anemia, folate-responsive semapv:UnspecifiedMatching +MONDO:0011143 skos:exactMatch OMIM:601777 cone-rod dystrophy 6 semapv:UnspecifiedMatching +MONDO:0011144 skos:exactMatch OMIM:601780 ceroid lipofuscinosis, neuronal, 6a semapv:UnspecifiedMatching +MONDO:0011145 skos:exactMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0011146 skos:exactMatch OMIM:601803 pallister-killian syndrome semapv:UnspecifiedMatching +MONDO:0011147 skos:exactMatch OMIM:601808 chromosome 18q deletion syndrome semapv:UnspecifiedMatching +MONDO:0011148 skos:exactMatch OMIM:601809 spondylospinal thoracic dysostosis semapv:UnspecifiedMatching +MONDO:0011149 skos:exactMatch OMIM:601811 premature aging syndrome, okamoto iia semapv:UnspecifiedMatching +MONDO:0011150 skos:exactMatch OMIM:601812 premature aging syndrome, penttinen iia semapv:UnspecifiedMatching +MONDO:0011151 skos:exactMatch OMIM:601813 exudative vitreoretinopathy 4 semapv:UnspecifiedMatching +MONDO:0011152 skos:exactMatch OMIM:601815 phosphoglycerate dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0011153 skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:UnspecifiedMatching +MONDO:0011154 skos:exactMatch OMIM:601829 acrofacial dysostosis, palagonia iia semapv:UnspecifiedMatching +MONDO:0011155 skos:exactMatch OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011156 skos:exactMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:UnspecifiedMatching +MONDO:0011157 skos:exactMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:UnspecifiedMatching +MONDO:0011158 skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:UnspecifiedMatching +MONDO:0011159 skos:exactMatch OMIM:601868 deafness, autosomal dominant 13 semapv:UnspecifiedMatching +MONDO:0011160 skos:exactMatch OMIM:601869 deafness, autosomal recessive 15 semapv:UnspecifiedMatching +MONDO:0011161 skos:exactMatch OMIM:601876 sperm-specific antigen 1 semapv:UnspecifiedMatching +MONDO:0011162 skos:exactMatch OMIM:601885 cataract 14, multiple types semapv:UnspecifiedMatching +MONDO:0011163 skos:exactMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0011164 skos:exactMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0011165 skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:UnspecifiedMatching +MONDO:0011166 skos:exactMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:UnspecifiedMatching +MONDO:0011167 skos:exactMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:UnspecifiedMatching +MONDO:0011168 skos:exactMatch OMIM:601942 iia 1 diabetes mellitus 10 semapv:UnspecifiedMatching +MONDO:0011169 skos:exactMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:UnspecifiedMatching +MONDO:0011170 skos:exactMatch OMIM:601954 muscular dystrophy, limb-girdle, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0011171 skos:exactMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:UnspecifiedMatching +MONDO:0011172 skos:exactMatch OMIM:601976 otofacioosseous-gonadal syndrome semapv:UnspecifiedMatching +MONDO:0011173 skos:exactMatch OMIM:601977 thrombocythemia 2 semapv:UnspecifiedMatching +MONDO:0011174 skos:exactMatch OMIM:601979 hyperzincemia with functional zinc depletion semapv:UnspecifiedMatching +MONDO:0011175 skos:exactMatch OMIM:601992 friedreich ataxia 2 semapv:UnspecifiedMatching +MONDO:0011176 skos:exactMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:UnspecifiedMatching +MONDO:0011177 skos:exactMatch OMIM:602032 ectodermal dysplasia 4, hair/nail iia semapv:UnspecifiedMatching +MONDO:0011178 skos:exactMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:UnspecifiedMatching +MONDO:0011179 skos:exactMatch OMIM:602068 leishmaniasis, tegumentary, susceptibility to semapv:UnspecifiedMatching +MONDO:0011180 skos:exactMatch OMIM:602071 broad terminal phalanges, familial semapv:UnspecifiedMatching +MONDO:0011181 skos:exactMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:UnspecifiedMatching +MONDO:0011183 skos:exactMatch OMIM:602080 paget disease of bone 2, early-onset semapv:UnspecifiedMatching +MONDO:0011184 skos:exactMatch OMIM:602081 speech-language disorder 1 semapv:UnspecifiedMatching +MONDO:0011185 skos:exactMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:UnspecifiedMatching +MONDO:0011186 skos:exactMatch OMIM:602083 usher syndrome, iia 1f semapv:UnspecifiedMatching +MONDO:0011187 skos:exactMatch OMIM:602085 polydactyly, postaxial, iia a2 semapv:UnspecifiedMatching +MONDO:0011188 skos:exactMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:UnspecifiedMatching +MONDO:0011189 skos:exactMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:UnspecifiedMatching +MONDO:0011190 skos:exactMatch OMIM:602088 nephronophthisis 2 semapv:UnspecifiedMatching +MONDO:0011191 skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:UnspecifiedMatching +MONDO:0011192 skos:exactMatch OMIM:602092 deafness, autosomal recessive 18a semapv:UnspecifiedMatching +MONDO:0011193 skos:exactMatch OMIM:602093 cone dystrophy 3 semapv:UnspecifiedMatching +MONDO:0011194 skos:exactMatch OMIM:602096 alzheimer disease 5 semapv:UnspecifiedMatching +MONDO:0011195 skos:exactMatch OMIM:602097 usher syndrome, iia 1e semapv:UnspecifiedMatching +MONDO:0011196 skos:exactMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:UnspecifiedMatching +MONDO:0011197 skos:exactMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:UnspecifiedMatching +MONDO:0011198 skos:exactMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia semapv:UnspecifiedMatching +MONDO:0011199 skos:exactMatch OMIM:602114 nephropathy, progressive tubulointerstitial, with cholestatic liver disease semapv:UnspecifiedMatching +MONDO:0011200 skos:exactMatch OMIM:602124 dystonia 7, torsion semapv:UnspecifiedMatching +MONDO:0011201 skos:exactMatch OMIM:602134 tremor, hereditary essential, 2 semapv:UnspecifiedMatching +MONDO:0011202 skos:exactMatch OMIM:602152 rhyns syndrome semapv:UnspecifiedMatching +MONDO:0011203 skos:exactMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:UnspecifiedMatching +MONDO:0011204 skos:exactMatch OMIM:602197 cerebellar degeneration-related autoantigen 3 semapv:UnspecifiedMatching +MONDO:0011205 skos:exactMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:UnspecifiedMatching +MONDO:0011206 skos:exactMatch OMIM:602200 ventriculomegaly with defects of the radius and kidney semapv:UnspecifiedMatching +MONDO:0011207 skos:exactMatch OMIM:602247 xanthomatosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0011208 skos:exactMatch OMIM:602248 malignant atrophic papulosis semapv:UnspecifiedMatching +MONDO:0011209 skos:exactMatch OMIM:602249 progeroid facial appearance with hand anomalies semapv:UnspecifiedMatching +MONDO:0011210 skos:exactMatch OMIM:602252 mitochondrial intermembrane space protein tim12, yeast, homolog of semapv:UnspecifiedMatching +MONDO:0011211 skos:exactMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:UnspecifiedMatching +MONDO:0011212 skos:exactMatch OMIM:602340 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth semapv:UnspecifiedMatching +MONDO:0011213 skos:exactMatch OMIM:602342 pierpont syndrome semapv:UnspecifiedMatching +MONDO:0011214 skos:exactMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:UnspecifiedMatching +MONDO:0011215 skos:exactMatch OMIM:602361 gracile bone dysplasia semapv:UnspecifiedMatching +MONDO:0011216 skos:exactMatch OMIM:602390 hemochromatosis, iia 2a semapv:UnspecifiedMatching +MONDO:0011217 skos:exactMatch OMIM:602398 desmosterolosis semapv:UnspecifiedMatching +MONDO:0011218 skos:exactMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:UnspecifiedMatching +MONDO:0011219 skos:exactMatch OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail iia semapv:UnspecifiedMatching +MONDO:0011220 skos:exactMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011221 skos:exactMatch OMIM:602418 weyers ulnar ray/oligodactyly syndrome semapv:UnspecifiedMatching +MONDO:0011222 skos:exactMatch OMIM:602429 glaucoma 1, open angle, d semapv:UnspecifiedMatching +MONDO:0011223 skos:exactMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:UnspecifiedMatching +MONDO:0011224 skos:exactMatch OMIM:602440 amyotrophy, monomelic semapv:UnspecifiedMatching +MONDO:0011225 skos:exactMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:UnspecifiedMatching +MONDO:0011226 skos:exactMatch OMIM:602459 deafness, autosomal dominant 15 semapv:UnspecifiedMatching +MONDO:0011227 skos:exactMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0011228 skos:exactMatch OMIM:602472 creases, infra-auricular cutaneous, with tall stature and advanced bone age semapv:UnspecifiedMatching +MONDO:0011229 skos:exactMatch OMIM:602473 encephalopathy, ethylmalonic semapv:UnspecifiedMatching +MONDO:0011230 skos:exactMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:UnspecifiedMatching +MONDO:0011232 skos:exactMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:UnspecifiedMatching +MONDO:0011233 skos:exactMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0011234 skos:exactMatch OMIM:602483 auriculocondylar syndrome 1 semapv:UnspecifiedMatching +MONDO:0011235 skos:exactMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:UnspecifiedMatching +MONDO:0011236 skos:exactMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:UnspecifiedMatching +MONDO:0011237 skos:exactMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:UnspecifiedMatching +MONDO:0011238 skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:UnspecifiedMatching +MONDO:0011239 skos:exactMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:UnspecifiedMatching +MONDO:0011240 skos:exactMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:UnspecifiedMatching +MONDO:0011241 skos:exactMatch OMIM:602511 pseudoacromegaly with severe insulin resistance semapv:UnspecifiedMatching +MONDO:0011242 skos:exactMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:UnspecifiedMatching +MONDO:0011243 skos:exactMatch OMIM:602531 grange syndrome semapv:UnspecifiedMatching +MONDO:0011244 skos:exactMatch OMIM:602535 marshall-smith syndrome semapv:UnspecifiedMatching +MONDO:0011245 skos:exactMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:UnspecifiedMatching +MONDO:0011246 skos:exactMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:UnspecifiedMatching +MONDO:0011247 skos:exactMatch OMIM:602551 jejunal atresia with renal adysplasia semapv:UnspecifiedMatching +MONDO:0011248 skos:exactMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:UnspecifiedMatching +MONDO:0011249 skos:exactMatch OMIM:602554 torsion dystonia with onset 1n infancy semapv:UnspecifiedMatching +MONDO:0011250 skos:exactMatch OMIM:602555 microcephaly, macrotia, and mental retardation semapv:UnspecifiedMatching +MONDO:0011251 skos:exactMatch OMIM:602556 facial dysmorphism, cleft palate, hearing loss, and camptodactyly semapv:UnspecifiedMatching +MONDO:0011252 skos:exactMatch OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia semapv:UnspecifiedMatching +MONDO:0011253 skos:exactMatch OMIM:602558 craniomicromelic syndrome semapv:UnspecifiedMatching +MONDO:0011254 skos:exactMatch OMIM:602561 brachydactyly, intraventricular septal defect, and deafness semapv:UnspecifiedMatching +MONDO:0011255 skos:exactMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:UnspecifiedMatching +MONDO:0011256 skos:exactMatch OMIM:602564 emphysema, congenital, with deafness, penoscrotal web, and mental retardation semapv:UnspecifiedMatching +MONDO:0011257 skos:exactMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:UnspecifiedMatching +MONDO:0011258 skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:UnspecifiedMatching +MONDO:0011259 skos:exactMatch OMIM:602594 retinitis pigmentosa 22 semapv:UnspecifiedMatching +MONDO:0011260 skos:exactMatch OMIM:602596 pancreatic lymphoma, familial semapv:UnspecifiedMatching +MONDO:0011261 skos:exactMatch OMIM:602611 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation semapv:UnspecifiedMatching +MONDO:0011262 skos:exactMatch OMIM:602612 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye semapv:UnspecifiedMatching +MONDO:0011263 skos:exactMatch OMIM:602613 skeletal dysplasia and progressive central nervous system degeneration, lethal semapv:UnspecifiedMatching +MONDO:0011264 skos:exactMatch OMIM:602629 dystonia 6, torsion semapv:UnspecifiedMatching +MONDO:0011265 skos:exactMatch OMIM:602639 tooth agenesis, selective, 2 semapv:UnspecifiedMatching +MONDO:0011266 skos:exactMatch OMIM:602668 myotonic dystrophy 2 semapv:UnspecifiedMatching +MONDO:0011267 skos:exactMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:UnspecifiedMatching +MONDO:0011268 skos:exactMatch OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:UnspecifiedMatching +MONDO:0011269 skos:exactMatch OMIM:602723 psoriasis 2 semapv:UnspecifiedMatching +MONDO:0011270 skos:exactMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:UnspecifiedMatching +MONDO:0011271 skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:UnspecifiedMatching +MONDO:0011272 skos:exactMatch OMIM:602772 retinitis pigmentosa 25 semapv:UnspecifiedMatching +MONDO:0011273 skos:exactMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:UnspecifiedMatching +MONDO:0011274 skos:exactMatch OMIM:602849 muenke syndrome semapv:UnspecifiedMatching +MONDO:0011275 skos:exactMatch OMIM:602875 acromesomelic dysplasia 1 semapv:UnspecifiedMatching +MONDO:0011276 skos:exactMatch OMIM:602966 orofacial cleft 2 semapv:UnspecifiedMatching +MONDO:0011277 skos:exactMatch OMIM:602994 leukoregulin semapv:UnspecifiedMatching +MONDO:0011279 skos:exactMatch OMIM:603010 deafness, autosomal recessive 17 semapv:UnspecifiedMatching +MONDO:0011280 skos:exactMatch OMIM:603013 schizophrenia 6 semapv:UnspecifiedMatching +MONDO:0011281 skos:exactMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:UnspecifiedMatching +MONDO:0011282 skos:exactMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:UnspecifiedMatching +MONDO:0011283 skos:exactMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:UnspecifiedMatching +MONDO:0011284 skos:exactMatch OMIM:603047 astigmatism semapv:UnspecifiedMatching +MONDO:0011285 skos:exactMatch OMIM:603075 macular degeneration, age-related, 1 semapv:UnspecifiedMatching +MONDO:0011286 skos:exactMatch OMIM:603098 deafness, autosomal recessive 13 semapv:UnspecifiedMatching +MONDO:0011287 skos:exactMatch OMIM:603116 cdags syndrome semapv:UnspecifiedMatching +MONDO:0011288 skos:exactMatch OMIM:603117 spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal semapv:UnspecifiedMatching +MONDO:0011289 skos:exactMatch OMIM:603119 apraxia of eyelid opening semapv:UnspecifiedMatching +MONDO:0011290 skos:exactMatch OMIM:603133 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation semapv:UnspecifiedMatching +MONDO:0011291 skos:exactMatch OMIM:603147 congenital disorder of glycosylation, iia ic semapv:UnspecifiedMatching +MONDO:0011292 skos:exactMatch OMIM:603165 dermatitis, atopic semapv:UnspecifiedMatching +MONDO:0011294 skos:exactMatch OMIM:603175 schizophrenia 5 semapv:UnspecifiedMatching +MONDO:0011295 skos:exactMatch OMIM:603176 schizophrenia 7 semapv:UnspecifiedMatching +MONDO:0011296 skos:exactMatch OMIM:603194 meckel syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0011297 skos:exactMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:UnspecifiedMatching +MONDO:0011298 skos:exactMatch OMIM:603206 schizophrenia 8 semapv:UnspecifiedMatching +MONDO:0011299 skos:exactMatch OMIM:603218 huntington disease-like 1 semapv:UnspecifiedMatching +MONDO:0011300 skos:exactMatch OMIM:603221 myopia 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011301 skos:exactMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:UnspecifiedMatching +MONDO:0011302 skos:exactMatch OMIM:603266 iia 1 diabetes mellitus 17 semapv:UnspecifiedMatching +MONDO:0011303 skos:exactMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:UnspecifiedMatching +MONDO:0011304 skos:exactMatch OMIM:603284 cerebral cavernous malformations 2 semapv:UnspecifiedMatching +MONDO:0011305 skos:exactMatch OMIM:603285 cerebral cavernous malformations 3 semapv:UnspecifiedMatching +MONDO:0011306 skos:exactMatch OMIM:603323 muscular dystrophy, congenital, with cerebellar atrophy semapv:UnspecifiedMatching +MONDO:0011307 skos:exactMatch OMIM:603342 schizophrenia 2 semapv:UnspecifiedMatching +MONDO:0011308 skos:exactMatch OMIM:603358 gracile syndrome semapv:UnspecifiedMatching +MONDO:0011309 skos:exactMatch OMIM:603373 hyperthyroidism, familial gestational semapv:UnspecifiedMatching +MONDO:0011310 skos:exactMatch OMIM:603376 long chain fatty acids, defect 1n transport of semapv:UnspecifiedMatching +MONDO:0011311 skos:exactMatch OMIM:603383 glaucoma 1, open angle, f semapv:UnspecifiedMatching +MONDO:0011312 skos:exactMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:UnspecifiedMatching +MONDO:0011313 skos:exactMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:UnspecifiedMatching +MONDO:0011314 skos:exactMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011315 skos:exactMatch OMIM:603389 osebold skeletal dysplasia/osteolysis syndrome semapv:UnspecifiedMatching +MONDO:0011316 skos:exactMatch OMIM:603393 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions semapv:UnspecifiedMatching +MONDO:0011317 skos:exactMatch OMIM:603394 microcephaly, severe, with skeletal anomalies including posterior rib-gap defects semapv:UnspecifiedMatching +MONDO:0011318 skos:exactMatch OMIM:603396 tonoki syndrome semapv:UnspecifiedMatching +MONDO:0011319 skos:exactMatch OMIM:603416 ribosomal protein l21 pseudogene 1 semapv:UnspecifiedMatching +MONDO:0011320 skos:exactMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:UnspecifiedMatching +MONDO:0011321 skos:exactMatch OMIM:603439 expansile bone lesions semapv:UnspecifiedMatching +MONDO:0011322 skos:exactMatch OMIM:603446 oroacral syndrome, verloes-koulischer iia semapv:UnspecifiedMatching +MONDO:0011323 skos:exactMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:UnspecifiedMatching +MONDO:0011325 skos:exactMatch OMIM:603467 fanconi anemia, complementation group f semapv:UnspecifiedMatching +MONDO:0011326 skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:UnspecifiedMatching +MONDO:0011327 skos:exactMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:UnspecifiedMatching +MONDO:0011330 skos:exactMatch OMIM:603516 spinocerebellar ataxia 10 semapv:UnspecifiedMatching +MONDO:0011331 skos:exactMatch OMIM:603523 chylothorax, congenital semapv:UnspecifiedMatching +MONDO:0011332 skos:exactMatch OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin semapv:UnspecifiedMatching +MONDO:0011334 skos:exactMatch OMIM:603543 limb-mammary syndrome semapv:UnspecifiedMatching +MONDO:0011335 skos:exactMatch OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, iia 2 semapv:UnspecifiedMatching +MONDO:0011336 skos:exactMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:UnspecifiedMatching +MONDO:0011337 skos:exactMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:UnspecifiedMatching +MONDO:0011338 skos:exactMatch OMIM:603554 omenn syndrome semapv:UnspecifiedMatching +MONDO:0011339 skos:exactMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011340 skos:exactMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:UnspecifiedMatching +MONDO:0011341 skos:exactMatch OMIM:603572 microcephaly, facial abnormalities, micromelia, and mental retardation semapv:UnspecifiedMatching +MONDO:0011342 skos:exactMatch OMIM:603585 congenital disorder of glycosylation, iia iif semapv:UnspecifiedMatching +MONDO:0011343 skos:exactMatch OMIM:603587 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts semapv:UnspecifiedMatching +MONDO:0011344 skos:exactMatch OMIM:603588 parotitis, juvenile recurrent semapv:UnspecifiedMatching +MONDO:0011345 skos:exactMatch OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification semapv:UnspecifiedMatching +MONDO:0011346 skos:exactMatch OMIM:603592 xanthinuria, iia 2 semapv:UnspecifiedMatching +MONDO:0011347 skos:exactMatch OMIM:603595 craniosynostosis with ectopia lentis semapv:UnspecifiedMatching +MONDO:0011349 skos:exactMatch OMIM:603600 osteoma of cranial vault, familial semapv:UnspecifiedMatching +MONDO:0011350 skos:exactMatch OMIM:603622 deafness, autosomal dominant 17 semapv:UnspecifiedMatching +MONDO:0011351 skos:exactMatch OMIM:603629 deafness, autosomal recessive 21 semapv:UnspecifiedMatching +MONDO:0011352 skos:exactMatch OMIM:603641 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia semapv:UnspecifiedMatching +MONDO:0011353 skos:exactMatch OMIM:603642 atrial septal defect, secundum, with various cardiac and noncardiac defects semapv:UnspecifiedMatching +MONDO:0011354 skos:exactMatch OMIM:603643 situs inversus totalis with cystic dysplasia of kidneys and pancreas semapv:UnspecifiedMatching +MONDO:0011355 skos:exactMatch OMIM:603649 cone-rod dystrophy 7 semapv:UnspecifiedMatching +MONDO:0011356 skos:exactMatch OMIM:603656 exostosis, dupuytren subungual semapv:UnspecifiedMatching +MONDO:0011357 skos:exactMatch OMIM:603669 eccrine syringofibroadenomatosis with eyelid abnormalities semapv:UnspecifiedMatching +MONDO:0011358 skos:exactMatch OMIM:603670 blue nevi, familial multiple semapv:UnspecifiedMatching +MONDO:0011359 skos:exactMatch OMIM:603671 acromelic frontonasal dysostosis semapv:UnspecifiedMatching +MONDO:0011360 skos:exactMatch OMIM:603678 deafness, autosomal recessive 14 semapv:UnspecifiedMatching +MONDO:0011361 skos:exactMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:UnspecifiedMatching +MONDO:0011362 skos:exactMatch OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure semapv:UnspecifiedMatching +MONDO:0011363 skos:exactMatch OMIM:603694 iia 2 diabetes mellitus 3 semapv:UnspecifiedMatching +MONDO:0011364 skos:exactMatch OMIM:603720 deafness, autosomal recessive 16 semapv:UnspecifiedMatching +MONDO:0011365 skos:exactMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:UnspecifiedMatching +MONDO:0011366 skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:UnspecifiedMatching +MONDO:0011367 skos:exactMatch OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia semapv:UnspecifiedMatching +MONDO:0011368 skos:exactMatch OMIM:603744 papillary thyroid microcarcinoma semapv:UnspecifiedMatching +MONDO:0011369 skos:exactMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:UnspecifiedMatching +MONDO:0011370 skos:exactMatch OMIM:603786 stargardt disease 4 semapv:UnspecifiedMatching +MONDO:0011371 skos:exactMatch OMIM:603794 hydroa vacciniforme, familial semapv:UnspecifiedMatching +MONDO:0011372 skos:exactMatch OMIM:603802 microcephaly with simplified gyral pattern semapv:UnspecifiedMatching +MONDO:0011373 skos:exactMatch OMIM:603806 urinary tract infections, recurrent, susceptibility to semapv:UnspecifiedMatching +MONDO:0011374 skos:exactMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:UnspecifiedMatching +MONDO:0011375 skos:exactMatch OMIM:603828 brittle bone disorder semapv:UnspecifiedMatching +MONDO:0011376 skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:UnspecifiedMatching +MONDO:0011377 skos:exactMatch OMIM:603830 long qt syndrome 3 semapv:UnspecifiedMatching +MONDO:0011378 skos:exactMatch OMIM:603855 cystic fibrosis, modifier of, 1 semapv:UnspecifiedMatching +MONDO:0011381 skos:exactMatch OMIM:603902 beta-thalassemia, dominant inclusion body iia semapv:UnspecifiedMatching +MONDO:0011382 skos:exactMatch OMIM:603903 sickle cell disease semapv:UnspecifiedMatching +MONDO:0011383 skos:exactMatch OMIM:603909 autoimmune lymphoproliferative syndrome, iia 2a semapv:UnspecifiedMatching +MONDO:0011384 skos:exactMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011385 skos:exactMatch OMIM:603932 intervertebral disc disease semapv:UnspecifiedMatching +MONDO:0011386 skos:exactMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011387 skos:exactMatch OMIM:603935 psoriasis 4, susceptibility to semapv:UnspecifiedMatching +MONDO:0011389 skos:exactMatch OMIM:603964 deafness, autosomal dominant 16 semapv:UnspecifiedMatching +MONDO:0011390 skos:exactMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:UnspecifiedMatching +MONDO:0011392 skos:exactMatch OMIM:604060 deafness, autosomal recessive 20 semapv:UnspecifiedMatching +MONDO:0011393 skos:exactMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:UnspecifiedMatching +MONDO:0011395 skos:exactMatch OMIM:604116 cone-rod dystrophy 3 semapv:UnspecifiedMatching +MONDO:0011396 skos:exactMatch OMIM:604117 vohwinkel syndrome, variant form semapv:UnspecifiedMatching +MONDO:0011397 skos:exactMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011398 skos:exactMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:UnspecifiedMatching +MONDO:0011399 skos:exactMatch OMIM:604131 alpha-thalassemia semapv:UnspecifiedMatching +MONDO:0011400 skos:exactMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:UnspecifiedMatching +MONDO:0011401 skos:exactMatch OMIM:604154 alzheimer disease 15 semapv:UnspecifiedMatching +MONDO:0011402 skos:exactMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:UnspecifiedMatching +MONDO:0011403 skos:exactMatch OMIM:604169 left ventricular noncompaction 1 semapv:UnspecifiedMatching +MONDO:0011404 skos:exactMatch OMIM:604172 caronte semapv:UnspecifiedMatching +MONDO:0011405 skos:exactMatch OMIM:604173 poikiloderma with neutropenia semapv:UnspecifiedMatching +MONDO:0011406 skos:exactMatch OMIM:604183 cholesteatoma, congenital semapv:UnspecifiedMatching +MONDO:0011407 skos:exactMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:UnspecifiedMatching +MONDO:0011408 skos:exactMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011409 skos:exactMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:UnspecifiedMatching +MONDO:0011410 skos:exactMatch OMIM:604211 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly semapv:UnspecifiedMatching +MONDO:0011411 skos:exactMatch OMIM:604213 chudley-mccullough syndrome semapv:UnspecifiedMatching +MONDO:0011412 skos:exactMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:UnspecifiedMatching +MONDO:0011413 skos:exactMatch OMIM:604219 cataract 9, multiple types semapv:UnspecifiedMatching +MONDO:0011414 skos:exactMatch OMIM:604229 anterior segment dysgenesis 5 semapv:UnspecifiedMatching +MONDO:0011415 skos:exactMatch OMIM:604232 leber congenital amaurosis 3 semapv:UnspecifiedMatching +MONDO:0011416 skos:exactMatch OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 semapv:UnspecifiedMatching +MONDO:0011417 skos:exactMatch OMIM:604250 hemochromatosis, iia 3 semapv:UnspecifiedMatching +MONDO:0011418 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011419 skos:exactMatch OMIM:604257 camera-marugo-cohen syndrome semapv:UnspecifiedMatching +MONDO:0011420 skos:exactMatch OMIM:604271 growth hormone insensitivity, partial semapv:UnspecifiedMatching +MONDO:0011421 skos:exactMatch OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 1 semapv:UnspecifiedMatching +MONDO:0011422 skos:exactMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0011423 skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching +MONDO:0011424 skos:exactMatch OMIM:604287 carney triad semapv:UnspecifiedMatching +MONDO:0011425 skos:exactMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:UnspecifiedMatching +MONDO:0011426 skos:exactMatch OMIM:604290 aceruloplasminemia semapv:UnspecifiedMatching +MONDO:0011427 skos:exactMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:UnspecifiedMatching +MONDO:0011428 skos:exactMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:UnspecifiedMatching +MONDO:0011429 skos:exactMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:UnspecifiedMatching +MONDO:0011431 skos:exactMatch OMIM:604308 mass syndrome semapv:UnspecifiedMatching +MONDO:0011432 skos:exactMatch OMIM:604314 blepharophimosis with facial and genital anomalies and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0011433 skos:exactMatch OMIM:604315 anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0011434 skos:exactMatch OMIM:604316 psoriasis 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0011435 skos:exactMatch OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations semapv:UnspecifiedMatching +MONDO:0011436 skos:exactMatch OMIM:604320 neuronopathy, distal hereditary motor, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0011437 skos:exactMatch OMIM:604321 microcephaly 4, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011439 skos:exactMatch OMIM:604326 spinocerebellar ataxia 12 semapv:UnspecifiedMatching +MONDO:0011440 skos:exactMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011441 skos:exactMatch OMIM:604335 reflex sympathetic dystrophy semapv:UnspecifiedMatching +MONDO:0011442 skos:exactMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:UnspecifiedMatching +MONDO:0011443 skos:exactMatch OMIM:604352 febrile seizures, familial, 4 semapv:UnspecifiedMatching +MONDO:0011444 skos:exactMatch OMIM:604356 duane retraction syndrome 2 semapv:UnspecifiedMatching +MONDO:0011445 skos:exactMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011446 skos:exactMatch OMIM:604363 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders semapv:UnspecifiedMatching +MONDO:0011448 skos:exactMatch OMIM:604367 lipodystrophy, familial partial, iia 3 semapv:UnspecifiedMatching +MONDO:0011449 skos:exactMatch OMIM:604369 salla disease semapv:UnspecifiedMatching +MONDO:0011450 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011451 skos:exactMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:UnspecifiedMatching +MONDO:0011452 skos:exactMatch OMIM:604379 hypotrichosis 7 semapv:UnspecifiedMatching +MONDO:0011453 skos:exactMatch OMIM:604380 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia semapv:UnspecifiedMatching +MONDO:0011454 skos:exactMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:UnspecifiedMatching +MONDO:0011455 skos:exactMatch OMIM:604382 lissencephaly, familial, with cleft palate and cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0011456 skos:exactMatch OMIM:604387 nephronophthisis 3 semapv:UnspecifiedMatching +MONDO:0011457 skos:exactMatch omim.ps:604391 Ataxia-telangiectasia-like disorder semapv:UnspecifiedMatching +MONDO:0011458 skos:exactMatch OMIM:604393 leber congenital amaurosis 4 semapv:UnspecifiedMatching +MONDO:0011459 skos:exactMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:UnspecifiedMatching +MONDO:0011460 skos:exactMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:UnspecifiedMatching +MONDO:0011461 skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:UnspecifiedMatching +MONDO:0011462 skos:exactMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:UnspecifiedMatching +MONDO:0011463 skos:exactMatch OMIM:604431 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011464 skos:exactMatch OMIM:604432 spinocerebellar ataxia 11 semapv:UnspecifiedMatching +MONDO:0011465 skos:exactMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:UnspecifiedMatching +MONDO:0011466 skos:exactMatch OMIM:604454 welander distal myopathy semapv:UnspecifiedMatching +MONDO:0011467 skos:exactMatch OMIM:604474 human herpesvirus iia 6, integrated semapv:UnspecifiedMatching +MONDO:0011468 skos:exactMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:UnspecifiedMatching +MONDO:0011470 skos:exactMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:UnspecifiedMatching +MONDO:0011471 skos:exactMatch OMIM:604519 inflammatory bowel disease 3 semapv:UnspecifiedMatching +MONDO:0011472 skos:exactMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:UnspecifiedMatching +MONDO:0011473 skos:exactMatch OMIM:604537 leber congenital amaurosis 5 semapv:UnspecifiedMatching +MONDO:0011474 skos:exactMatch OMIM:604559 progressive familial heart block, iia 1b semapv:UnspecifiedMatching +MONDO:0011475 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, iia 4b2 semapv:UnspecifiedMatching +MONDO:0011476 skos:exactMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0011477 skos:exactMatch OMIM:604625 tooth agenesis, selective, 3 semapv:UnspecifiedMatching +MONDO:0011478 skos:exactMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:UnspecifiedMatching +MONDO:0011479 skos:exactMatch OMIM:604715 orthostatic intolerance semapv:UnspecifiedMatching +MONDO:0011480 skos:exactMatch OMIM:604717 deafness, autosomal dominant 20 semapv:UnspecifiedMatching +MONDO:0011481 skos:exactMatch OMIM:604757 craniosynostosis 2 semapv:UnspecifiedMatching +MONDO:0011482 skos:exactMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:UnspecifiedMatching +MONDO:0011483 skos:exactMatch OMIM:604771 polycystic bone disease semapv:UnspecifiedMatching +MONDO:0011484 skos:exactMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0011485 skos:exactMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0011486 skos:exactMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:UnspecifiedMatching +MONDO:0011487 skos:exactMatch OMIM:604802 huntington disease-like 3 semapv:UnspecifiedMatching +MONDO:0011488 skos:exactMatch OMIM:604804 microcephaly 3, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011489 skos:exactMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011490 skos:exactMatch OMIM:604809 panbronchiolitis, diffuse semapv:UnspecifiedMatching +MONDO:0011491 skos:exactMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0011492 skos:exactMatch OMIM:604830 mandibulofacial dysostosis syndrome, bauru iia semapv:UnspecifiedMatching +MONDO:0011493 skos:exactMatch OMIM:604841 stickler syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0011494 skos:exactMatch OMIM:604855 hyaluronan metabolism, defect 1n semapv:UnspecifiedMatching +MONDO:0011496 skos:exactMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:UnspecifiedMatching +MONDO:0011497 skos:exactMatch OMIM:604901 north american indian childhood cirrhosis semapv:UnspecifiedMatching +MONDO:0011498 skos:exactMatch OMIM:604906 schizophrenia 9 semapv:UnspecifiedMatching +MONDO:0011500 skos:exactMatch OMIM:604919 becker nevus syndrome semapv:UnspecifiedMatching +MONDO:0011501 skos:exactMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0011502 skos:exactMatch OMIM:604928 wolfram syndrome 2 semapv:UnspecifiedMatching +MONDO:0011503 skos:exactMatch OMIM:604931 cortisone reductase deficiency 1 semapv:UnspecifiedMatching +MONDO:0011504 skos:exactMatch OMIM:605013 microhydranencephaly semapv:UnspecifiedMatching +MONDO:0011505 skos:exactMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:UnspecifiedMatching +MONDO:0011506 skos:exactMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:UnspecifiedMatching +MONDO:0011507 skos:exactMatch OMIM:605026 diabetes mellitus, congenital autoimmune semapv:UnspecifiedMatching +MONDO:0011508 skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:UnspecifiedMatching +MONDO:0011509 skos:exactMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:UnspecifiedMatching +MONDO:0011510 skos:exactMatch OMIM:605039 bohring-opitz syndrome semapv:UnspecifiedMatching +MONDO:0011511 skos:exactMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:UnspecifiedMatching +MONDO:0011512 skos:exactMatch OMIM:605041 brooke-spiegler syndrome semapv:UnspecifiedMatching +MONDO:0011513 skos:exactMatch OMIM:605055 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology semapv:UnspecifiedMatching +MONDO:0011514 skos:exactMatch OMIM:605067 tricuspid atresia semapv:UnspecifiedMatching +MONDO:0011516 skos:exactMatch OMIM:605105 early response to neural induction gene semapv:UnspecifiedMatching +MONDO:0011517 skos:exactMatch OMIM:605115 hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy semapv:UnspecifiedMatching +MONDO:0011518 skos:exactMatch OMIM:605130 wiedemann-steiner syndrome semapv:UnspecifiedMatching +MONDO:0011519 skos:exactMatch OMIM:605192 deafness, autosomal dominant 23 semapv:UnspecifiedMatching +MONDO:0011520 skos:exactMatch OMIM:605218 systemic lupus erythematosus, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011521 skos:exactMatch OMIM:605225 inflammatory bowel disease 7 semapv:UnspecifiedMatching +MONDO:0011522 skos:exactMatch OMIM:605229 spastic paraplegia 14, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011523 skos:exactMatch OMIM:605231 bardet-biedl syndrome 6 semapv:UnspecifiedMatching +MONDO:0011524 skos:exactMatch OMIM:605233 dianzani autoimmune lymphoproliferative disease semapv:UnspecifiedMatching +MONDO:0011525 skos:exactMatch OMIM:605244 carney complex, iia 2 semapv:UnspecifiedMatching +MONDO:0011527 skos:exactMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011528 skos:exactMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:UnspecifiedMatching +MONDO:0011529 skos:exactMatch OMIM:605259 spinocerebellar ataxia 13 semapv:UnspecifiedMatching +MONDO:0011530 skos:exactMatch OMIM:605274 mesomelic dysplasia, savarirayan iia semapv:UnspecifiedMatching +MONDO:0011531 skos:exactMatch OMIM:605275 noonan syndrome 2 semapv:UnspecifiedMatching +MONDO:0011532 skos:exactMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011533 skos:exactMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching +MONDO:0011534 skos:exactMatch OMIM:605285 neuropathy, hereditary motor and sensory, russe iia semapv:UnspecifiedMatching +MONDO:0011535 skos:exactMatch OMIM:605289 split-hand/foot malformation 4 semapv:UnspecifiedMatching +MONDO:0011536 skos:exactMatch OMIM:605293 optic atrophy 4 semapv:UnspecifiedMatching +MONDO:0011537 skos:exactMatch OMIM:605309 macrocephaly/autism syndrome semapv:UnspecifiedMatching +MONDO:0011538 skos:exactMatch OMIM:605321 frontoocular syndrome semapv:UnspecifiedMatching +MONDO:0011539 skos:exactMatch OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile semapv:UnspecifiedMatching +MONDO:0011540 skos:exactMatch OMIM:605361 spinocerebellar ataxia 14 semapv:UnspecifiedMatching +MONDO:0011541 skos:exactMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:UnspecifiedMatching +MONDO:0011542 skos:exactMatch OMIM:605364 psoriasis 6, susceptibility to semapv:UnspecifiedMatching +MONDO:0011543 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching +MONDO:0011544 skos:exactMatch OMIM:605373 pheochromocytoma/paraganglioma syndrome 3 semapv:UnspecifiedMatching +MONDO:0011545 skos:exactMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:UnspecifiedMatching +MONDO:0011546 skos:exactMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:UnspecifiedMatching +MONDO:0011547 skos:exactMatch OMIM:605387 cataract 31, multiple types semapv:UnspecifiedMatching +MONDO:0011548 skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011549 skos:exactMatch OMIM:605389 hypotrichosis 1 semapv:UnspecifiedMatching +MONDO:0011550 skos:exactMatch OMIM:605400 fibromatosis, gingival, with hypertrichosis and mental retardation semapv:UnspecifiedMatching +MONDO:0011551 skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011552 skos:exactMatch OMIM:605419 schizophrenia 10 semapv:UnspecifiedMatching +MONDO:0011553 skos:exactMatch OMIM:605428 deafness, autosomal recessive 26 semapv:UnspecifiedMatching +MONDO:0011554 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching +MONDO:0011555 skos:exactMatch omim.ps:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching +MONDO:0011556 skos:exactMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011557 skos:exactMatch OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011558 skos:exactMatch OMIM:605472 usher syndrome, iia 2c semapv:UnspecifiedMatching +MONDO:0011559 skos:exactMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:UnspecifiedMatching +MONDO:0011560 skos:exactMatch OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011561 skos:exactMatch OMIM:605526 alzheimer disease 6 semapv:UnspecifiedMatching +MONDO:0011562 skos:exactMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011563 skos:exactMatch OMIM:605544 fibromatosis, gingival, 2 semapv:UnspecifiedMatching +MONDO:0011564 skos:exactMatch OMIM:605549 cone-rod dystrophy 8 semapv:UnspecifiedMatching +MONDO:0011565 skos:exactMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:UnspecifiedMatching +MONDO:0011566 skos:exactMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:UnspecifiedMatching +MONDO:0011567 skos:exactMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:UnspecifiedMatching +MONDO:0011568 skos:exactMatch OMIM:605583 deafness, autosomal dominant 25 semapv:UnspecifiedMatching +MONDO:0011569 skos:exactMatch OMIM:605588 charcot-marie-tooth disease, axonal, iia 2b1 semapv:UnspecifiedMatching +MONDO:0011570 skos:exactMatch OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 semapv:UnspecifiedMatching +MONDO:0011571 skos:exactMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:UnspecifiedMatching +MONDO:0011572 skos:exactMatch OMIM:605598 iia 1 diabetes mellitus 18 semapv:UnspecifiedMatching +MONDO:0011573 skos:exactMatch OMIM:605606 psoriasis 7, susceptibility to semapv:UnspecifiedMatching +MONDO:0011574 skos:exactMatch OMIM:605618 tetralogy of fallot syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011575 skos:exactMatch OMIM:605627 cerebrooculonasal syndrome semapv:UnspecifiedMatching +MONDO:0011576 skos:exactMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:UnspecifiedMatching +MONDO:0011577 skos:exactMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:UnspecifiedMatching +MONDO:0011578 skos:exactMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:UnspecifiedMatching +MONDO:0011579 skos:exactMatch OMIM:605670 late-onset retinal degeneration semapv:UnspecifiedMatching +MONDO:0011580 skos:exactMatch OMIM:605672 cerebellar ataxia and hypergonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0011581 skos:exactMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:UnspecifiedMatching +MONDO:0011582 skos:exactMatch OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 semapv:UnspecifiedMatching +MONDO:0011583 skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:UnspecifiedMatching +MONDO:0011584 skos:exactMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:UnspecifiedMatching +MONDO:0011585 skos:exactMatch OMIM:605726 neuronopathy, distal hereditary motor, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0011586 skos:exactMatch OMIM:605727 otosclerosis 2 semapv:UnspecifiedMatching +MONDO:0011587 skos:exactMatch OMIM:605728 cataract 25 semapv:UnspecifiedMatching +MONDO:0011588 skos:exactMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:UnspecifiedMatching +MONDO:0011589 skos:exactMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:UnspecifiedMatching +MONDO:0011590 skos:exactMatch OMIM:605746 anisomastia semapv:UnspecifiedMatching +MONDO:0011591 skos:exactMatch OMIM:605749 cataract 26, multiple types semapv:UnspecifiedMatching +MONDO:0011592 skos:exactMatch OMIM:605750 exudative vitreoretinopathy 3 semapv:UnspecifiedMatching +MONDO:0011593 skos:exactMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:UnspecifiedMatching +MONDO:0011594 skos:exactMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:UnspecifiedMatching +MONDO:0011595 skos:exactMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:UnspecifiedMatching +MONDO:0011596 skos:exactMatch OMIM:605803 dermatitis, atopic, 2 semapv:UnspecifiedMatching +MONDO:0011597 skos:exactMatch OMIM:605804 dermatitis, atopic, 3 semapv:UnspecifiedMatching +MONDO:0011598 skos:exactMatch OMIM:605805 dermatitis, atopic, 4 semapv:UnspecifiedMatching +MONDO:0011599 skos:exactMatch OMIM:605808 birdshot chorioretinopathy semapv:UnspecifiedMatching +MONDO:0011600 skos:exactMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:UnspecifiedMatching +MONDO:0011601 skos:exactMatch OMIM:605814 citrullinemia, iia ii, neonatal-onset semapv:UnspecifiedMatching +MONDO:0011602 skos:exactMatch OMIM:605818 deafness, autosomal recessive 27 semapv:UnspecifiedMatching +MONDO:0011603 skos:exactMatch OMIM:605820 nonaka myopathy semapv:UnspecifiedMatching +MONDO:0011604 skos:exactMatch OMIM:605822 spondyloocular syndrome semapv:UnspecifiedMatching +MONDO:0011605 skos:exactMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011606 skos:exactMatch OMIM:605838 baby rattle pelvis dysplasia semapv:UnspecifiedMatching +MONDO:0011607 skos:exactMatch OMIM:605841 narcolepsy 2, susceptibility to semapv:UnspecifiedMatching +MONDO:0011608 skos:exactMatch OMIM:605844 dermatitis, atopic, 5 semapv:UnspecifiedMatching +MONDO:0011609 skos:exactMatch OMIM:605845 dermatitis, atopic, 6 semapv:UnspecifiedMatching +MONDO:0011610 skos:exactMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0011611 skos:exactMatch OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting semapv:UnspecifiedMatching +MONDO:0011612 skos:exactMatch omim.ps:605899 Glycine encephalopathy semapv:UnspecifiedMatching +MONDO:0011613 skos:exactMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:UnspecifiedMatching +MONDO:0011614 skos:exactMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:UnspecifiedMatching +MONDO:0011615 skos:exactMatch OMIM:605913 bleeding disorder, east texas iia semapv:UnspecifiedMatching +MONDO:0011616 skos:exactMatch OMIM:605934 holoprosencephaly 6 semapv:UnspecifiedMatching +MONDO:0011617 skos:exactMatch OMIM:605935 arthropathy, erosive semapv:UnspecifiedMatching +MONDO:0011618 skos:exactMatch OMIM:605944 liver fibrocystic disease and polydactyly semapv:UnspecifiedMatching +MONDO:0011619 skos:exactMatch OMIM:605945 crumpled helices and small mouth semapv:UnspecifiedMatching +MONDO:0011620 skos:exactMatch OMIM:605946 metaphyseal dysplasia, braun-tinschert iia semapv:UnspecifiedMatching +MONDO:0011621 skos:exactMatch OMIM:605967 acropectoral syndrome semapv:UnspecifiedMatching +MONDO:0011622 skos:exactMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:UnspecifiedMatching +MONDO:0011624 skos:exactMatch OMIM:606003 transaldolase deficiency semapv:UnspecifiedMatching +MONDO:0011625 skos:exactMatch OMIM:606012 deafness, autosomal dominant 18 semapv:UnspecifiedMatching +MONDO:0011626 skos:exactMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:UnspecifiedMatching +MONDO:0011627 skos:exactMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:UnspecifiedMatching +MONDO:0011628 skos:exactMatch OMIM:606054 propionic acidemia semapv:UnspecifiedMatching +MONDO:0011629 skos:exactMatch OMIM:606056 congenital disorder of glycosylation, iia iib semapv:UnspecifiedMatching +MONDO:0011630 skos:exactMatch OMIM:606068 retinitis pigmentosa 28 semapv:UnspecifiedMatching +MONDO:0011631 skos:exactMatch OMIM:606069 hemochromatosis, iia 4 semapv:UnspecifiedMatching +MONDO:0011632 skos:exactMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:UnspecifiedMatching +MONDO:0011633 skos:exactMatch OMIM:606071 hereditary motor and sensory neuropathy, iia 2c semapv:UnspecifiedMatching +MONDO:0011635 skos:exactMatch OMIM:606082 goiter, multinodular 3 semapv:UnspecifiedMatching +MONDO:0011636 skos:exactMatch OMIM:606129 diamond-blackfan anemia 2 semapv:UnspecifiedMatching +MONDO:0011637 skos:exactMatch OMIM:606156 sener syndrome semapv:UnspecifiedMatching +MONDO:0011638 skos:exactMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:UnspecifiedMatching +MONDO:0011639 skos:exactMatch OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis semapv:UnspecifiedMatching +MONDO:0011640 skos:exactMatch OMIM:606170 genitopatellar syndrome semapv:UnspecifiedMatching +MONDO:0011641 skos:exactMatch OMIM:606174 baculum, congenital absence of semapv:UnspecifiedMatching +MONDO:0011642 skos:exactMatch OMIM:606175 carnitine acetyltransferase deficiency semapv:UnspecifiedMatching +MONDO:0011644 skos:exactMatch OMIM:606177 pars planitis semapv:UnspecifiedMatching +MONDO:0011646 skos:exactMatch OMIM:606183 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy semapv:UnspecifiedMatching +MONDO:0011647 skos:exactMatch OMIM:606187 alzheimer disease 7 semapv:UnspecifiedMatching +MONDO:0011648 skos:exactMatch OMIM:606190 meningioma, radiation-induced semapv:UnspecifiedMatching +MONDO:0011650 skos:exactMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011651 skos:exactMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:UnspecifiedMatching +MONDO:0011652 skos:exactMatch OMIM:606232 phelan-mcdermid syndrome semapv:UnspecifiedMatching +MONDO:0011653 skos:exactMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:UnspecifiedMatching +MONDO:0011654 skos:exactMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0011655 skos:exactMatch OMIM:606243 alveolar soft part sarcoma semapv:UnspecifiedMatching +MONDO:0011656 skos:exactMatch OMIM:606263 paget disease of bone 4 semapv:UnspecifiedMatching +MONDO:0011657 skos:exactMatch OMIM:606282 deafness, autosomal dominant 24 semapv:UnspecifiedMatching +MONDO:0011658 skos:exactMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:UnspecifiedMatching +MONDO:0011659 skos:exactMatch OMIM:606325 heterotaxy, visceral, 3, autosomal semapv:UnspecifiedMatching +MONDO:0011660 skos:exactMatch OMIM:606346 deafness, autosomal dominant 22 semapv:UnspecifiedMatching +MONDO:0011661 skos:exactMatch OMIM:606348 inflammatory bowel disease 5 semapv:UnspecifiedMatching +MONDO:0011662 skos:exactMatch OMIM:606349 gambling, pathologic semapv:UnspecifiedMatching +MONDO:0011663 skos:exactMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:UnspecifiedMatching +MONDO:0011664 skos:exactMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:UnspecifiedMatching +MONDO:0011667 skos:exactMatch OMIM:606392 maturity-onset diabetes of the young, iia 4 semapv:UnspecifiedMatching +MONDO:0011668 skos:exactMatch OMIM:606394 maturity-onset diabetes of the young, iia 6 semapv:UnspecifiedMatching +MONDO:0011669 skos:exactMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:UnspecifiedMatching +MONDO:0011670 skos:exactMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:UnspecifiedMatching +MONDO:0011671 skos:exactMatch OMIM:606438 huntington disease-like 2 semapv:UnspecifiedMatching +MONDO:0011672 skos:exactMatch OMIM:606445 persistent polyclonal b-cell lymphocytosis semapv:UnspecifiedMatching +MONDO:0011673 skos:exactMatch OMIM:606451 deafness, autosomal dominant 30 semapv:UnspecifiedMatching +MONDO:0011674 skos:exactMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:UnspecifiedMatching +MONDO:0011675 skos:exactMatch OMIM:606483 charcot-marie-tooth disease, axonal, iia 2gg semapv:UnspecifiedMatching +MONDO:0011676 skos:exactMatch OMIM:606519 phace association semapv:UnspecifiedMatching +MONDO:0011677 skos:exactMatch OMIM:606527 megarbane syndrome semapv:UnspecifiedMatching +MONDO:0011678 skos:exactMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:UnspecifiedMatching +MONDO:0011679 skos:exactMatch OMIM:606529 craniosynostosis syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011680 skos:exactMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0011681 skos:exactMatch OMIM:606552 episodic ataxia, iia 4 semapv:UnspecifiedMatching +MONDO:0011682 skos:exactMatch OMIM:606554 episodic ataxia, iia 3 semapv:UnspecifiedMatching +MONDO:0011683 skos:exactMatch OMIM:606574 albinism, oculocutaneous, iia 4 semapv:UnspecifiedMatching +MONDO:0011684 skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:UnspecifiedMatching +MONDO:0011685 skos:exactMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:UnspecifiedMatching +MONDO:0011686 skos:exactMatch OMIM:606593 lig4 syndrome semapv:UnspecifiedMatching +MONDO:0011687 skos:exactMatch OMIM:606595 charcot-marie-tooth disease, axonal, iia 2f semapv:UnspecifiedMatching +MONDO:0011688 skos:exactMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:UnspecifiedMatching +MONDO:0011689 skos:exactMatch OMIM:606616 dyslexia, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0011690 skos:exactMatch OMIM:606631 camurati-engelmann disease, iia 2 semapv:UnspecifiedMatching +MONDO:0011691 skos:exactMatch OMIM:606640 amyotrophic lateral sclerosis 3 semapv:UnspecifiedMatching +MONDO:0011693 skos:exactMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:UnspecifiedMatching +MONDO:0011694 skos:exactMatch OMIM:606658 spinocerebellar ataxia 15 semapv:UnspecifiedMatching +MONDO:0011695 skos:exactMatch OMIM:606660 melanoma, uveal, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011696 skos:exactMatch OMIM:606661 melanoma, uveal, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011697 skos:exactMatch OMIM:606662 waardenburg syndrome, iia 2c semapv:UnspecifiedMatching +MONDO:0011698 skos:exactMatch OMIM:606664 glycine n-methyltransferase deficiency semapv:UnspecifiedMatching +MONDO:0011699 skos:exactMatch OMIM:606668 inflammatory bowel disease 8 semapv:UnspecifiedMatching +MONDO:0011700 skos:exactMatch OMIM:606674 inflammatory bowel disease 6 semapv:UnspecifiedMatching +MONDO:0011701 skos:exactMatch OMIM:606675 inflammatory bowel disease 4 semapv:UnspecifiedMatching +MONDO:0011702 skos:exactMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:UnspecifiedMatching +MONDO:0011703 skos:exactMatch OMIM:606688 spongiform encephalopathy with neuropsychiatric features semapv:UnspecifiedMatching +MONDO:0011704 skos:exactMatch OMIM:606689 glaucoma 1, open angle, B semapv:UnspecifiedMatching +MONDO:0011705 skos:exactMatch OMIM:606690 lymphangioleiomyomatosis semapv:UnspecifiedMatching +MONDO:0011706 skos:exactMatch OMIM:606693 kufor-rakeb syndrome semapv:UnspecifiedMatching +MONDO:0011708 skos:exactMatch OMIM:606705 deafness, autosomal dominant 36 semapv:UnspecifiedMatching +MONDO:0011709 skos:exactMatch OMIM:606708 split-hand/foot malformation 5 semapv:UnspecifiedMatching +MONDO:0011710 skos:exactMatch OMIM:606711 specific language impairment 1 semapv:UnspecifiedMatching +MONDO:0011711 skos:exactMatch OMIM:606712 specific language impairment 2 semapv:UnspecifiedMatching +MONDO:0011712 skos:exactMatch OMIM:606713 van der woude syndrome 2 semapv:UnspecifiedMatching +MONDO:0011713 skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:UnspecifiedMatching +MONDO:0011714 skos:exactMatch OMIM:606721 lipodystrophy, familial partial, iia 7 semapv:UnspecifiedMatching +MONDO:0011715 skos:exactMatch OMIM:606744 seckel syndrome 2 semapv:UnspecifiedMatching +MONDO:0011716 skos:exactMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:UnspecifiedMatching +MONDO:0011717 skos:exactMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:UnspecifiedMatching +MONDO:0011718 skos:exactMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:UnspecifiedMatching +MONDO:0011719 skos:exactMatch OMIM:606764 gastrointestinal stromal tumor semapv:UnspecifiedMatching +MONDO:0011720 skos:exactMatch OMIM:606766 spermatogenic failure 3 semapv:UnspecifiedMatching +MONDO:0011721 skos:exactMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:UnspecifiedMatching +MONDO:0011722 skos:exactMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:UnspecifiedMatching +MONDO:0011723 skos:exactMatch OMIM:606773 hemifacial myohyperplasia semapv:UnspecifiedMatching +MONDO:0011724 skos:exactMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:UnspecifiedMatching +MONDO:0011725 skos:exactMatch OMIM:606785 crigler-najjar syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0011726 skos:exactMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:UnspecifiedMatching +MONDO:0011727 skos:exactMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:UnspecifiedMatching +MONDO:0011729 skos:exactMatch OMIM:606799 stroke, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011730 skos:exactMatch OMIM:606812 fumarase deficiency semapv:UnspecifiedMatching +MONDO:0011731 skos:exactMatch OMIM:606824 glucose/galactose malabsorption semapv:UnspecifiedMatching +MONDO:0011732 skos:exactMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:UnspecifiedMatching +MONDO:0011733 skos:exactMatch OMIM:606840 parasomnia, sleep bruxism iia semapv:UnspecifiedMatching +MONDO:0011734 skos:exactMatch OMIM:606842 cardioneuromyopathy with hyaline masses and nemaline rods semapv:UnspecifiedMatching +MONDO:0011735 skos:exactMatch OMIM:606843 immunodeficiency with hyper-igm, iia 3 semapv:UnspecifiedMatching +MONDO:0011736 skos:exactMatch OMIM:606851 cree mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0011737 skos:exactMatch OMIM:606852 parkinson disease 10 semapv:UnspecifiedMatching +MONDO:0011738 skos:exactMatch OMIM:606854 cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) semapv:UnspecifiedMatching +MONDO:0011739 skos:exactMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011740 skos:exactMatch OMIM:606864 paraganglioma and gastric stromal sarcoma semapv:UnspecifiedMatching +MONDO:0011741 skos:exactMatch OMIM:606874 hirschsprung disease, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0011742 skos:exactMatch OMIM:606875 hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0011743 skos:exactMatch OMIM:606889 alzheimer disease 4 semapv:UnspecifiedMatching +MONDO:0011744 skos:exactMatch OMIM:606893 vascular malformation, primary intraosseous semapv:UnspecifiedMatching +MONDO:0011745 skos:exactMatch OMIM:606894 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery semapv:UnspecifiedMatching +MONDO:0011746 skos:exactMatch OMIM:606895 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch semapv:UnspecifiedMatching +MONDO:0011747 skos:exactMatch OMIM:606896 dyslexia, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0011748 skos:exactMatch OMIM:606943 usher syndrome, iia 1g semapv:UnspecifiedMatching +MONDO:0011749 skos:exactMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:UnspecifiedMatching +MONDO:0011750 skos:exactMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:UnspecifiedMatching +MONDO:0011752 skos:exactMatch OMIM:606966 nephronophthisis 4 semapv:UnspecifiedMatching +MONDO:0011753 skos:exactMatch OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011754 skos:exactMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:UnspecifiedMatching +MONDO:0011755 skos:exactMatch OMIM:606995 senior-loken syndrome 3 semapv:UnspecifiedMatching +MONDO:0011756 skos:exactMatch OMIM:606996 senior-loken syndrome 4 semapv:UnspecifiedMatching +MONDO:0011757 skos:exactMatch OMIM:607004 brachydactyly, iia a1, B semapv:UnspecifiedMatching +MONDO:0011758 skos:exactMatch OMIM:607014 hurler syndrome semapv:UnspecifiedMatching +MONDO:0011759 skos:exactMatch OMIM:607015 hurler-scheie syndrome semapv:UnspecifiedMatching +MONDO:0011760 skos:exactMatch OMIM:607016 scheie syndrome semapv:UnspecifiedMatching +MONDO:0011761 skos:exactMatch OMIM:607017 deafness, autosomal dominant 21 semapv:UnspecifiedMatching +MONDO:0011762 skos:exactMatch OMIM:607039 deafness, autosomal recessive 22 semapv:UnspecifiedMatching +MONDO:0011763 skos:exactMatch OMIM:607044 t-box 24 semapv:UnspecifiedMatching +MONDO:0011764 skos:exactMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011765 skos:exactMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:UnspecifiedMatching +MONDO:0011766 skos:exactMatch OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching +MONDO:0011767 skos:exactMatch OMIM:607084 deafness, autosomal recessive 31 semapv:UnspecifiedMatching +MONDO:0011768 skos:exactMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:UnspecifiedMatching +MONDO:0011770 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching +MONDO:0011771 skos:exactMatch OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0011772 skos:exactMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:UnspecifiedMatching +MONDO:0011773 skos:exactMatch omim.ps:607095 Anauxetic dysplasia semapv:UnspecifiedMatching +MONDO:0011774 skos:exactMatch OMIM:607101 deafness, autosomal recessive 30 semapv:UnspecifiedMatching +MONDO:0011775 skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:UnspecifiedMatching +MONDO:0011776 skos:exactMatch OMIM:607115 cinca syndrome semapv:UnspecifiedMatching +MONDO:0011777 skos:exactMatch OMIM:607116 alzheimer disease 8 semapv:UnspecifiedMatching +MONDO:0011778 skos:exactMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:UnspecifiedMatching +MONDO:0011779 skos:exactMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:UnspecifiedMatching +MONDO:0011780 skos:exactMatch OMIM:607134 specific language impairment 3 semapv:UnspecifiedMatching +MONDO:0011781 skos:exactMatch OMIM:607136 spinocerebellar ataxia 17 semapv:UnspecifiedMatching +MONDO:0011782 skos:exactMatch OMIM:607140 angioid streaks semapv:UnspecifiedMatching +MONDO:0011783 skos:exactMatch OMIM:607143 congenital disorder of glycosylation, iia ig semapv:UnspecifiedMatching +MONDO:0011784 skos:exactMatch OMIM:607151 moyamoya disease 2 semapv:UnspecifiedMatching +MONDO:0011785 skos:exactMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011787 skos:exactMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:UnspecifiedMatching +MONDO:0011788 skos:exactMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:UnspecifiedMatching +MONDO:0011789 skos:exactMatch OMIM:607174 meningioma, familial, susceptibility to semapv:UnspecifiedMatching +MONDO:0011790 skos:exactMatch OMIM:607196 microcephaly, amish iia semapv:UnspecifiedMatching +MONDO:0011792 skos:exactMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:UnspecifiedMatching +MONDO:0011793 skos:exactMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0011795 skos:exactMatch OMIM:607214 anonychia, total, with microcephaly semapv:UnspecifiedMatching +MONDO:0011796 skos:exactMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:UnspecifiedMatching +MONDO:0011797 skos:exactMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:UnspecifiedMatching +MONDO:0011798 skos:exactMatch OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration semapv:UnspecifiedMatching +MONDO:0011799 skos:exactMatch OMIM:607239 deafness, autosomal recessive 33 semapv:UnspecifiedMatching +MONDO:0011800 skos:exactMatch OMIM:607248 glioma susceptibility 4 semapv:UnspecifiedMatching +MONDO:0011801 skos:exactMatch OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 semapv:UnspecifiedMatching +MONDO:0011802 skos:exactMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:UnspecifiedMatching +MONDO:0011803 skos:exactMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011804 skos:exactMatch OMIM:607271 caspase 8 deficiency semapv:UnspecifiedMatching +MONDO:0011805 skos:exactMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011806 skos:exactMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:UnspecifiedMatching +MONDO:0011807 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011808 skos:exactMatch OMIM:607304 cataract 27 semapv:UnspecifiedMatching +MONDO:0011809 skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching +MONDO:0011810 skos:exactMatch omim.ps:607313 Gaze palsy, familial horizontal, with progressive scoliosis semapv:UnspecifiedMatching +MONDO:0011811 skos:exactMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:UnspecifiedMatching +MONDO:0011812 skos:exactMatch OMIM:607323 duane-radial ray syndrome semapv:UnspecifiedMatching +MONDO:0011813 skos:exactMatch OMIM:607324 polydactyly, postaxial, iia a3 semapv:UnspecifiedMatching +MONDO:0011814 skos:exactMatch OMIM:607326 smith-mccort dysplasia 1 semapv:UnspecifiedMatching +MONDO:0011815 skos:exactMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011816 skos:exactMatch OMIM:607330 lathosterolosis semapv:UnspecifiedMatching +MONDO:0011817 skos:exactMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011818 skos:exactMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:UnspecifiedMatching +MONDO:0011819 skos:exactMatch OMIM:607346 spinocerebellar ataxia 19 semapv:UnspecifiedMatching +MONDO:0011820 skos:exactMatch OMIM:607354 scoliosis, isolated, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011821 skos:exactMatch OMIM:607361 meckel syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0011822 skos:exactMatch OMIM:607364 bartter syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0011823 skos:exactMatch OMIM:607371 dystonia-deafness syndrome 1 semapv:UnspecifiedMatching +MONDO:0011824 skos:exactMatch OMIM:607373 autism, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0011825 skos:exactMatch OMIM:607395 streptococcus, group a, severity of infection by semapv:UnspecifiedMatching +MONDO:0011826 skos:exactMatch OMIM:607398 glucocorticoid deficiency 2 semapv:UnspecifiedMatching +MONDO:0011827 skos:exactMatch omim.ps:607411 Patent ductus arteriosus semapv:UnspecifiedMatching +MONDO:0011828 skos:exactMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0011829 skos:exactMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:UnspecifiedMatching +MONDO:0011830 skos:exactMatch OMIM:607432 lissencephaly 1 semapv:UnspecifiedMatching +MONDO:0011831 skos:exactMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:UnspecifiedMatching +MONDO:0011832 skos:exactMatch OMIM:607453 deafness, autosomal dominant 44 semapv:UnspecifiedMatching +MONDO:0011833 skos:exactMatch OMIM:607454 spinocerebellar ataxia 21 semapv:UnspecifiedMatching +MONDO:0011834 skos:exactMatch OMIM:607458 spinocerebellar ataxia 18 semapv:UnspecifiedMatching +MONDO:0011835 skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:UnspecifiedMatching +MONDO:0011836 skos:exactMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:UnspecifiedMatching +MONDO:0011837 skos:exactMatch OMIM:607473 vitamin k-dependent clotting factors, combined deficiency of, 2 semapv:UnspecifiedMatching +MONDO:0011838 skos:exactMatch OMIM:607475 bothnia retinal dystrophy semapv:UnspecifiedMatching +MONDO:0011839 skos:exactMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:UnspecifiedMatching +MONDO:0011840 skos:exactMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:UnspecifiedMatching +MONDO:0011841 skos:exactMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:UnspecifiedMatching +MONDO:0011842 skos:exactMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:UnspecifiedMatching +MONDO:0011843 skos:exactMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:UnspecifiedMatching +MONDO:0011844 skos:exactMatch OMIM:607488 dystonia 15, myoclonic semapv:UnspecifiedMatching +MONDO:0011845 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011846 skos:exactMatch OMIM:607499 bulimia nervosa, susceptibility to semapv:UnspecifiedMatching +MONDO:0011847 skos:exactMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0011848 skos:exactMatch OMIM:607504 headache associated with sexual activity semapv:UnspecifiedMatching +MONDO:0011850 skos:exactMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0011851 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0011852 skos:exactMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:UnspecifiedMatching +MONDO:0011853 skos:exactMatch OMIM:607539 camptosynpolydactyly, complex semapv:UnspecifiedMatching +MONDO:0011854 skos:exactMatch OMIM:607540 secretory diarrhea, myopathy, and deafness semapv:UnspecifiedMatching +MONDO:0011855 skos:exactMatch OMIM:607541 corneal dystrophy, avellino iia semapv:UnspecifiedMatching +MONDO:0011856 skos:exactMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0011857 skos:exactMatch OMIM:607554 atrial fibrillation, familial, 3 semapv:UnspecifiedMatching +MONDO:0011858 skos:exactMatch OMIM:607565 spastic paraplegia, ataxia, and mental retardation semapv:UnspecifiedMatching +MONDO:0011860 skos:exactMatch OMIM:607572 leprosy, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011861 skos:exactMatch OMIM:607578 breath-holding spells semapv:UnspecifiedMatching +MONDO:0011862 skos:exactMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011863 skos:exactMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:UnspecifiedMatching +MONDO:0011864 skos:exactMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:UnspecifiedMatching +MONDO:0011866 skos:exactMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:UnspecifiedMatching +MONDO:0011867 skos:exactMatch OMIM:607597 microphthalmia with cyst, bilateral facial clefts, and limb anomalies semapv:UnspecifiedMatching +MONDO:0011868 skos:exactMatch OMIM:607598 lethal congenital contracture syndrome 2 semapv:UnspecifiedMatching +MONDO:0011869 skos:exactMatch OMIM:607600 epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching +MONDO:0011870 skos:exactMatch omim.ps:607602 Ichthyosis, annular epidermolytic semapv:UnspecifiedMatching +MONDO:0011871 skos:exactMatch OMIM:607616 niemann-pick disease, iia B semapv:UnspecifiedMatching +MONDO:0011872 skos:exactMatch OMIM:607624 griscelli syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0011873 skos:exactMatch OMIM:607625 niemann-pick disease, iia c2 semapv:UnspecifiedMatching +MONDO:0011874 skos:exactMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:UnspecifiedMatching +MONDO:0011875 skos:exactMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0011876 skos:exactMatch omim.ps:607631 Epilepsy, juvenile absence semapv:UnspecifiedMatching +MONDO:0011877 skos:exactMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0011879 skos:exactMatch OMIM:607641 neuronopathy, distal hereditary motor, autosomal dominant 14 semapv:UnspecifiedMatching +MONDO:0011880 skos:exactMatch OMIM:607644 candidiasis, familial, 3 semapv:UnspecifiedMatching +MONDO:0011881 skos:exactMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:UnspecifiedMatching +MONDO:0011883 skos:exactMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:UnspecifiedMatching +MONDO:0011884 skos:exactMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching +MONDO:0011885 skos:exactMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:UnspecifiedMatching +MONDO:0011886 skos:exactMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011887 skos:exactMatch OMIM:607674 cataract, congenital, with mental impairment and dentate gyrus atrophy semapv:UnspecifiedMatching +MONDO:0011888 skos:exactMatch OMIM:607676 immunodeficiency 67 semapv:UnspecifiedMatching +MONDO:0011889 skos:exactMatch OMIM:607677 charcot-marie-tooth disease, axonal, iia 2i semapv:UnspecifiedMatching +MONDO:0011890 skos:exactMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, iia 1d semapv:UnspecifiedMatching +MONDO:0011891 skos:exactMatch OMIM:607681 febrile seizures, familial, 8 semapv:UnspecifiedMatching +MONDO:0011892 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0011893 skos:exactMatch OMIM:607683 deafness, autosomal dominant 52 semapv:UnspecifiedMatching +MONDO:0011894 skos:exactMatch OMIM:607684 charcot-marie-tooth disease, axonal, iia 2e semapv:UnspecifiedMatching +MONDO:0011895 skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:UnspecifiedMatching +MONDO:0011896 skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0011897 skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0011898 skos:exactMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011899 skos:exactMatch omim.ps:607721 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching +MONDO:0011900 skos:exactMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic iia semapv:UnspecifiedMatching +MONDO:0011901 skos:exactMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:UnspecifiedMatching +MONDO:0011902 skos:exactMatch OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f semapv:UnspecifiedMatching +MONDO:0011903 skos:exactMatch OMIM:607736 charcot-marie-tooth disease, axonal, iia 2j semapv:UnspecifiedMatching +MONDO:0011904 skos:exactMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:UnspecifiedMatching +MONDO:0011906 skos:exactMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:UnspecifiedMatching +MONDO:0011907 skos:exactMatch OMIM:607778 acrocapitofemoral dysplasia semapv:UnspecifiedMatching +MONDO:0011908 skos:exactMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:UnspecifiedMatching +MONDO:0011909 skos:exactMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:UnspecifiedMatching +MONDO:0011910 skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching +MONDO:0011911 skos:exactMatch OMIM:607812 craniolenticulosutural dysplasia semapv:UnspecifiedMatching +MONDO:0011912 skos:exactMatch OMIM:607821 deafness, autosomal recessive 37 semapv:UnspecifiedMatching +MONDO:0011913 skos:exactMatch OMIM:607822 alzheimer disease 3 semapv:UnspecifiedMatching +MONDO:0011914 skos:exactMatch OMIM:607823 hypotrichosis-lymphedema-telangiectasia syndrome semapv:UnspecifiedMatching +MONDO:0011915 skos:exactMatch OMIM:607829 mitral valve prolapse 2 semapv:UnspecifiedMatching +MONDO:0011916 skos:exactMatch OMIM:607831 charcot-marie-tooth disease, axonal, iia 2k semapv:UnspecifiedMatching +MONDO:0011917 skos:exactMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:UnspecifiedMatching +MONDO:0011918 skos:exactMatch OMIM:607834 anxiety semapv:UnspecifiedMatching +MONDO:0011919 skos:exactMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011920 skos:exactMatch OMIM:607841 deafness, autosomal dominant 48 semapv:UnspecifiedMatching +MONDO:0011921 skos:exactMatch OMIM:607842 aural atresia, congenital semapv:UnspecifiedMatching +MONDO:0011922 skos:exactMatch OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults semapv:UnspecifiedMatching +MONDO:0011923 skos:exactMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:UnspecifiedMatching +MONDO:0011924 skos:exactMatch OMIM:607853 panic disorder 2 semapv:UnspecifiedMatching +MONDO:0011925 skos:exactMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:UnspecifiedMatching +MONDO:0011926 skos:exactMatch OMIM:607857 psoriasis 9, susceptibility to semapv:UnspecifiedMatching +MONDO:0011927 skos:exactMatch OMIM:607859 angioma, tufted semapv:UnspecifiedMatching +MONDO:0011928 skos:exactMatch OMIM:607864 caudal duplication anomaly semapv:UnspecifiedMatching +MONDO:0011929 skos:exactMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:UnspecifiedMatching +MONDO:0011930 skos:exactMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:UnspecifiedMatching +MONDO:0011931 skos:exactMatch OMIM:607893 ovarian cancer, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011932 skos:exactMatch OMIM:607903 hypotrichosis 6 semapv:UnspecifiedMatching +MONDO:0011933 skos:exactMatch OMIM:607906 congenital disorder of glycosylation, iia ii semapv:UnspecifiedMatching +MONDO:0011934 skos:exactMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:UnspecifiedMatching +MONDO:0011935 skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:UnspecifiedMatching +MONDO:0011936 skos:exactMatch OMIM:607932 microphthalmia, syndromic 6 semapv:UnspecifiedMatching +MONDO:0011937 skos:exactMatch OMIM:607936 peeling skin syndrome 4 semapv:UnspecifiedMatching +MONDO:0011938 skos:exactMatch OMIM:607941 atrial septal defect 2 semapv:UnspecifiedMatching +MONDO:0011939 skos:exactMatch OMIM:607944 spondyloenchondrodysplasia with immune dysregulation semapv:UnspecifiedMatching +MONDO:0011940 skos:exactMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0011941 skos:exactMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011942 skos:exactMatch OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011943 skos:exactMatch OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011944 skos:exactMatch OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011945 skos:exactMatch OMIM:608013 gaucher disease, perinatal lethal semapv:UnspecifiedMatching +MONDO:0011946 skos:exactMatch OMIM:608022 diaphanospondylodysostosis semapv:UnspecifiedMatching +MONDO:0011948 skos:exactMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:UnspecifiedMatching +MONDO:0011949 skos:exactMatch OMIM:608028 thai symphalangism syndrome semapv:UnspecifiedMatching +MONDO:0011950 skos:exactMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0011951 skos:exactMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0011952 skos:exactMatch OMIM:608031 amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching +MONDO:0011953 skos:exactMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011954 skos:exactMatch OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0011955 skos:exactMatch OMIM:608036 iia 2 diabetes mellitus 4 semapv:UnspecifiedMatching +MONDO:0011956 skos:exactMatch OMIM:608049 autism, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011957 skos:exactMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:UnspecifiedMatching +MONDO:0011958 skos:exactMatch OMIM:608063 bile and pancreatic ducts, complete absence of semapv:UnspecifiedMatching +MONDO:0011959 skos:exactMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:UnspecifiedMatching +MONDO:0011960 skos:exactMatch OMIM:608078 schizophrenia 11 semapv:UnspecifiedMatching +MONDO:0011961 skos:exactMatch OMIM:608088 neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux semapv:UnspecifiedMatching +MONDO:0011962 skos:exactMatch OMIM:608089 endometrial cancer semapv:UnspecifiedMatching +MONDO:0011963 skos:exactMatch OMIM:608091 joubert syndrome 2 semapv:UnspecifiedMatching +MONDO:0011964 skos:exactMatch OMIM:608093 congenital disorder of glycosylation, iia ij semapv:UnspecifiedMatching +MONDO:0011965 skos:exactMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:UnspecifiedMatching +MONDO:0011966 skos:exactMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011967 skos:exactMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:UnspecifiedMatching +MONDO:0011968 skos:exactMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0011969 skos:exactMatch OMIM:608104 congenital disorder of glycosylation, iia ih semapv:UnspecifiedMatching +MONDO:0011970 skos:exactMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:UnspecifiedMatching +MONDO:0011971 skos:exactMatch OMIM:608106 immunodeficiency with hyper-igm, iia 5 semapv:UnspecifiedMatching +MONDO:0011972 skos:exactMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:UnspecifiedMatching +MONDO:0011973 skos:exactMatch OMIM:608118 zinc deficiency, transient neonatal semapv:UnspecifiedMatching +MONDO:0011974 skos:exactMatch OMIM:608133 retinitis pigmentosa 7 semapv:UnspecifiedMatching +MONDO:0011975 skos:exactMatch OMIM:608149 kagami-ogata syndrome semapv:UnspecifiedMatching +MONDO:0011976 skos:exactMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:UnspecifiedMatching +MONDO:0011977 skos:exactMatch OMIM:608156 nablus mask-like facial syndrome semapv:UnspecifiedMatching +MONDO:0011978 skos:exactMatch OMIM:608158 coq-responsive oxphos deficiency semapv:UnspecifiedMatching +MONDO:0011980 skos:exactMatch OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0011981 skos:exactMatch OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0011982 skos:exactMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0011983 skos:exactMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0011984 skos:exactMatch OMIM:608180 synpolydactyly 2 semapv:UnspecifiedMatching +MONDO:0011985 skos:exactMatch OMIM:608184 immunodeficiency with hyper-igm, iia 4 semapv:UnspecifiedMatching +MONDO:0011986 skos:exactMatch OMIM:608189 tropical calcific pancreatitis semapv:UnspecifiedMatching +MONDO:0011987 skos:exactMatch OMIM:608194 cone-rod dystrophy 13 semapv:UnspecifiedMatching +MONDO:0011988 skos:exactMatch OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:UnspecifiedMatching +MONDO:0011990 skos:exactMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:UnspecifiedMatching +MONDO:0011991 skos:exactMatch OMIM:608219 deafness, autosomal recessive 38 semapv:UnspecifiedMatching +MONDO:0011992 skos:exactMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:UnspecifiedMatching +MONDO:0011993 skos:exactMatch OMIM:608223 aspirin resistance semapv:UnspecifiedMatching +MONDO:0011994 skos:exactMatch OMIM:608224 deafness, autosomal dominant 41 semapv:UnspecifiedMatching +MONDO:0011995 skos:exactMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:UnspecifiedMatching +MONDO:0011996 skos:exactMatch OMIM:608232 leukemia, chronic myeloid semapv:UnspecifiedMatching +MONDO:0011997 skos:exactMatch OMIM:608233 hermansky-pudlak syndrome 2 semapv:UnspecifiedMatching +MONDO:0011998 skos:exactMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:UnspecifiedMatching +MONDO:0011999 skos:exactMatch OMIM:608244 otosclerosis 3 semapv:UnspecifiedMatching +MONDO:0012000 skos:exactMatch OMIM:608251 phobia, specific semapv:UnspecifiedMatching +MONDO:0012001 skos:exactMatch OMIM:608257 mandibulofacial dysostosis with ptosis, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012002 skos:exactMatch OMIM:608264 deafness, autosomal recessive 40 semapv:UnspecifiedMatching +MONDO:0012003 skos:exactMatch OMIM:608265 deafness, autosomal recessive 39 semapv:UnspecifiedMatching +MONDO:0012004 skos:exactMatch OMIM:608266 parathyroid carcinoma semapv:UnspecifiedMatching +MONDO:0012005 skos:exactMatch OMIM:608278 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy semapv:UnspecifiedMatching +MONDO:0012006 skos:exactMatch OMIM:608279 craniosynostosis with ocular abnormalities and hallucal defects semapv:UnspecifiedMatching +MONDO:0012007 skos:exactMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:UnspecifiedMatching +MONDO:0012008 skos:exactMatch OMIM:608290 lelis syndrome semapv:UnspecifiedMatching +MONDO:0012009 skos:exactMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012010 skos:exactMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012011 skos:exactMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:UnspecifiedMatching +MONDO:0012012 skos:exactMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:UnspecifiedMatching +MONDO:0012013 skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:UnspecifiedMatching +MONDO:0012014 skos:exactMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:UnspecifiedMatching +MONDO:0012015 skos:exactMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012016 skos:exactMatch omim.ps:608354 Capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching +MONDO:0012019 skos:exactMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:UnspecifiedMatching +MONDO:0012020 skos:exactMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:UnspecifiedMatching +MONDO:0012021 skos:exactMatch OMIM:608367 myopia 17, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012022 skos:exactMatch OMIM:608371 orofacial cleft 4 semapv:UnspecifiedMatching +MONDO:0012023 skos:exactMatch OMIM:608372 deafness, autosomal dominant 49 semapv:UnspecifiedMatching +MONDO:0012024 skos:exactMatch OMIM:608380 retinitis pigmentosa 26 semapv:UnspecifiedMatching +MONDO:0012025 skos:exactMatch OMIM:608389 branchiootic syndrome 3 semapv:UnspecifiedMatching +MONDO:0012027 skos:exactMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012028 skos:exactMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012029 skos:exactMatch OMIM:608393 microcephaly 6, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012030 skos:exactMatch OMIM:608394 deafness, autosomal dominant 43 semapv:UnspecifiedMatching +MONDO:0012031 skos:exactMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:UnspecifiedMatching +MONDO:0012032 skos:exactMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:UnspecifiedMatching +MONDO:0012033 skos:exactMatch omim.ps:608415 Prolonged electroretinal response suppression semapv:UnspecifiedMatching +MONDO:0012034 skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0012035 skos:exactMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0012036 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012037 skos:exactMatch OMIM:608443 intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0012038 skos:exactMatch OMIM:608445 speech-sound disorder semapv:UnspecifiedMatching +MONDO:0012039 skos:exactMatch OMIM:608446 myocardial infarction, susceptibility to semapv:UnspecifiedMatching +MONDO:0012040 skos:exactMatch OMIM:608448 inflammatory bowel disease 9 semapv:UnspecifiedMatching +MONDO:0012041 skos:exactMatch OMIM:608456 familial adenomatous polyposis 2 semapv:UnspecifiedMatching +MONDO:0012042 skos:exactMatch OMIM:608462 hirschsprung disease, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012043 skos:exactMatch OMIM:608470 corneal dystrophy, reis-bucklers iia semapv:UnspecifiedMatching +MONDO:0012044 skos:exactMatch OMIM:608471 corneal dystrophy, lattice iia 3a semapv:UnspecifiedMatching +MONDO:0012045 skos:exactMatch OMIM:608474 myopia 5, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012046 skos:exactMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:UnspecifiedMatching +MONDO:0012047 skos:exactMatch OMIM:608509 alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia semapv:UnspecifiedMatching +MONDO:0012049 skos:exactMatch OMIM:608518 orofaciodigital syndrome 7 semapv:UnspecifiedMatching +MONDO:0012050 skos:exactMatch OMIM:608520 major depressive disorder 1 semapv:UnspecifiedMatching +MONDO:0012051 skos:exactMatch OMIM:608526 periodontitis, aggressive, 2 semapv:UnspecifiedMatching +MONDO:0012052 skos:exactMatch OMIM:608540 congenital disorder of glycosylation, iia ik semapv:UnspecifiedMatching +MONDO:0012053 skos:exactMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:UnspecifiedMatching +MONDO:0012054 skos:exactMatch OMIM:608543 schizophrenia 12 semapv:UnspecifiedMatching +MONDO:0012055 skos:exactMatch OMIM:608545 larsen-like syndrome semapv:UnspecifiedMatching +MONDO:0012056 skos:exactMatch OMIM:608553 leber congenital amaurosis 9 semapv:UnspecifiedMatching +MONDO:0012057 skos:exactMatch OMIM:608556 legionnaire disease, susceptibility to semapv:UnspecifiedMatching +MONDO:0012058 skos:exactMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012059 skos:exactMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:UnspecifiedMatching +MONDO:0012060 skos:exactMatch OMIM:608565 deafness, autosomal recessive 35 semapv:UnspecifiedMatching +MONDO:0012061 skos:exactMatch omim.ps:608567 Sick sinus syndrome semapv:UnspecifiedMatching +MONDO:0012062 skos:exactMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:UnspecifiedMatching +MONDO:0012063 skos:exactMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:UnspecifiedMatching +MONDO:0012064 skos:exactMatch OMIM:608572 burn-mckeown syndrome semapv:UnspecifiedMatching +MONDO:0012066 skos:exactMatch OMIM:608583 atrial fibrillation, familial, 1 semapv:UnspecifiedMatching +MONDO:0012067 skos:exactMatch OMIM:608584 asthma-related traits, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012068 skos:exactMatch OMIM:608585 brachial palsy, familial congenital semapv:UnspecifiedMatching +MONDO:0012069 skos:exactMatch OMIM:608586 keratoconus 3 semapv:UnspecifiedMatching +MONDO:0012071 skos:exactMatch OMIM:608594 lipodystrophy, congenital generalized, iia 1 semapv:UnspecifiedMatching +MONDO:0012072 skos:exactMatch OMIM:608600 lipodystrophy, familial partial, iia 1 semapv:UnspecifiedMatching +MONDO:0012073 skos:exactMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:UnspecifiedMatching +MONDO:0012074 skos:exactMatch OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy semapv:UnspecifiedMatching +MONDO:0012075 skos:exactMatch OMIM:608615 oligodontia-colorectal cancer syndrome semapv:UnspecifiedMatching +MONDO:0012076 skos:exactMatch OMIM:608624 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia semapv:UnspecifiedMatching +MONDO:0012077 skos:exactMatch OMIM:608627 amyotrophic lateral sclerosis 8 semapv:UnspecifiedMatching +MONDO:0012078 skos:exactMatch OMIM:608629 joubert syndrome 3 semapv:UnspecifiedMatching +MONDO:0012079 skos:exactMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012080 skos:exactMatch OMIM:608634 neuronopathy, distal hereditary motor, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0012081 skos:exactMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:UnspecifiedMatching +MONDO:0012082 skos:exactMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0012083 skos:exactMatch OMIM:608641 deafness, autosomal dominant 28 semapv:UnspecifiedMatching +MONDO:0012084 skos:exactMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:UnspecifiedMatching +MONDO:0012085 skos:exactMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:UnspecifiedMatching +MONDO:0012086 skos:exactMatch OMIM:608645 deafness, autosomal dominant 31 semapv:UnspecifiedMatching +MONDO:0012087 skos:exactMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:UnspecifiedMatching +MONDO:0012088 skos:exactMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:UnspecifiedMatching +MONDO:0012089 skos:exactMatch OMIM:608649 ichthyosis prematurity syndrome semapv:UnspecifiedMatching +MONDO:0012090 skos:exactMatch OMIM:608652 deafness, autosomal dominant 47 semapv:UnspecifiedMatching +MONDO:0012091 skos:exactMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:UnspecifiedMatching +MONDO:0012092 skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:UnspecifiedMatching +MONDO:0012093 skos:exactMatch OMIM:608656 prostate cancer, hereditary, 3 semapv:UnspecifiedMatching +MONDO:0012094 skos:exactMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:UnspecifiedMatching +MONDO:0012095 skos:exactMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:UnspecifiedMatching +MONDO:0012096 skos:exactMatch OMIM:608673 charcot-marie-tooth disease, axonal, iia 2l semapv:UnspecifiedMatching +MONDO:0012097 skos:exactMatch OMIM:608681 spondylocostal dysostosis 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012098 skos:exactMatch OMIM:608687 spinocerebellar ataxia 20 semapv:UnspecifiedMatching +MONDO:0012099 skos:exactMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:UnspecifiedMatching +MONDO:0012100 skos:exactMatch OMIM:608691 major depressive disorder 2 semapv:UnspecifiedMatching +MONDO:0012101 skos:exactMatch OMIM:608695 glaucoma 1, open angle, j semapv:UnspecifiedMatching +MONDO:0012102 skos:exactMatch OMIM:608696 glaucoma 1, open angle, k semapv:UnspecifiedMatching +MONDO:0012103 skos:exactMatch OMIM:608703 spinocerebellar ataxia 25 semapv:UnspecifiedMatching +MONDO:0012105 skos:exactMatch OMIM:608710 granulomatosis with polyangiitis semapv:UnspecifiedMatching +MONDO:0012106 skos:exactMatch OMIM:608716 microcephaly 5, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012107 skos:exactMatch OMIM:608720 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia semapv:UnspecifiedMatching +MONDO:0012108 skos:exactMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia semapv:UnspecifiedMatching +MONDO:0012109 skos:exactMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012110 skos:exactMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:UnspecifiedMatching +MONDO:0012111 skos:exactMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:UnspecifiedMatching +MONDO:0012112 skos:exactMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:UnspecifiedMatching +MONDO:0012113 skos:exactMatch OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012114 skos:exactMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen iia semapv:UnspecifiedMatching +MONDO:0012115 skos:exactMatch OMIM:608765 scoliosis, isolated, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012116 skos:exactMatch OMIM:608768 spinocerebellar ataxia 8 semapv:UnspecifiedMatching +MONDO:0012117 skos:exactMatch OMIM:608776 congenital disorder of glycosylation, iia il semapv:UnspecifiedMatching +MONDO:0012118 skos:exactMatch OMIM:608779 congenital disorder of glycosylation, iia iie semapv:UnspecifiedMatching +MONDO:0012119 skos:exactMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012120 skos:exactMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:UnspecifiedMatching +MONDO:0012121 skos:exactMatch OMIM:608787 otosclerosis 5 semapv:UnspecifiedMatching +MONDO:0012122 skos:exactMatch OMIM:608796 moyamoya disease 3 semapv:UnspecifiedMatching +MONDO:0012123 skos:exactMatch OMIM:608799 congenital disorder of glycosylation, iia ie semapv:UnspecifiedMatching +MONDO:0012124 skos:exactMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:UnspecifiedMatching +MONDO:0012125 skos:exactMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:UnspecifiedMatching +MONDO:0012126 skos:exactMatch omim.ps:608805 Avascular necrosis of femoral head, primary semapv:UnspecifiedMatching +MONDO:0012127 skos:exactMatch OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:UnspecifiedMatching +MONDO:0012128 skos:exactMatch OMIM:608808 transposition of the great arteries, dextro-looped semapv:UnspecifiedMatching +MONDO:0012129 skos:exactMatch OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema semapv:UnspecifiedMatching +MONDO:0012130 skos:exactMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:UnspecifiedMatching +MONDO:0012131 skos:exactMatch OMIM:608811 metaphyseal undermodeling, spondylar dysplasia, and overgrowth semapv:UnspecifiedMatching +MONDO:0012132 skos:exactMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0012133 skos:exactMatch OMIM:608814 lateral semicircular canal malformation, familial, with external and middle ear abnormalities semapv:UnspecifiedMatching +MONDO:0012134 skos:exactMatch OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012135 skos:exactMatch OMIM:608831 restless legs syndrome, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012136 skos:exactMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:UnspecifiedMatching +MONDO:0012137 skos:exactMatch OMIM:608837 carney complex variant semapv:UnspecifiedMatching +MONDO:0012138 skos:exactMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 semapv:UnspecifiedMatching +MONDO:0012139 skos:exactMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:UnspecifiedMatching +MONDO:0012140 skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching +MONDO:0012141 skos:exactMatch OMIM:608864 orofacial cleft 6, susceptibility to semapv:UnspecifiedMatching +MONDO:0012142 skos:exactMatch OMIM:608874 orofacial cleft 5 semapv:UnspecifiedMatching +MONDO:0012143 skos:exactMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:UnspecifiedMatching +MONDO:0012144 skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching +MONDO:0012145 skos:exactMatch OMIM:608895 macular degeneration, age-related, 3 semapv:UnspecifiedMatching +MONDO:0012146 skos:exactMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:UnspecifiedMatching +MONDO:0012147 skos:exactMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012148 skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching +MONDO:0012149 skos:exactMatch OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0012150 skos:exactMatch OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012151 skos:exactMatch OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012152 skos:exactMatch OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012153 skos:exactMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:UnspecifiedMatching +MONDO:0012154 skos:exactMatch OMIM:608908 myopia 6 semapv:UnspecifiedMatching +MONDO:0012155 skos:exactMatch OMIM:608911 choanal atresia, posterior semapv:UnspecifiedMatching +MONDO:0012156 skos:exactMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:UnspecifiedMatching +MONDO:0012157 skos:exactMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching +MONDO:0012158 skos:exactMatch OMIM:608932 keratoconus 2 semapv:UnspecifiedMatching +MONDO:0012159 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:UnspecifiedMatching +MONDO:0012160 skos:exactMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching +MONDO:0012161 skos:exactMatch OMIM:608957 immunodeficiency 116 semapv:UnspecifiedMatching +MONDO:0012162 skos:exactMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:UnspecifiedMatching +MONDO:0012163 skos:exactMatch OMIM:608971 immunodeficiency 104 semapv:UnspecifiedMatching +MONDO:0012164 skos:exactMatch OMIM:608978 meacham syndrome semapv:UnspecifiedMatching +MONDO:0012165 skos:exactMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:UnspecifiedMatching +MONDO:0012166 skos:exactMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012167 skos:exactMatch OMIM:608988 atrial fibrillation, familial, 2 semapv:UnspecifiedMatching +MONDO:0012168 skos:exactMatch OMIM:608995 dyslexia, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012169 skos:exactMatch OMIM:608996 premature ovarian failure 3 semapv:UnspecifiedMatching +MONDO:0012170 skos:exactMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:UnspecifiedMatching +MONDO:0012171 skos:exactMatch OMIM:609008 marfanoid habitus with situs inversus semapv:UnspecifiedMatching +MONDO:0012172 skos:exactMatch omim.ps:609015 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching +MONDO:0012173 skos:exactMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0012174 skos:exactMatch OMIM:609021 peripheral cone dystrophy semapv:UnspecifiedMatching +MONDO:0012175 skos:exactMatch OMIM:609026 cataract 28 semapv:UnspecifiedMatching +MONDO:0012176 skos:exactMatch OMIM:609029 emanuel syndrome semapv:UnspecifiedMatching +MONDO:0012177 skos:exactMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0012178 skos:exactMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:UnspecifiedMatching +MONDO:0012179 skos:exactMatch OMIM:609039 narcolepsy 3 semapv:UnspecifiedMatching +MONDO:0012180 skos:exactMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:UnspecifiedMatching +MONDO:0012181 skos:exactMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012182 skos:exactMatch OMIM:609047 skeletal dysplasia, rhizomelic, with retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0012183 skos:exactMatch OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012184 skos:exactMatch OMIM:609049 pierson syndrome semapv:UnspecifiedMatching +MONDO:0012185 skos:exactMatch OMIM:609052 spondylometaphyseal dysplasia, iia a4 semapv:UnspecifiedMatching +MONDO:0012186 skos:exactMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:UnspecifiedMatching +MONDO:0012187 skos:exactMatch OMIM:609054 fanconi anemia, complementation group j semapv:UnspecifiedMatching +MONDO:0012188 skos:exactMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:UnspecifiedMatching +MONDO:0012190 skos:exactMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:UnspecifiedMatching +MONDO:0012191 skos:exactMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:UnspecifiedMatching +MONDO:0012192 skos:exactMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:UnspecifiedMatching +MONDO:0012193 skos:exactMatch OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0012194 skos:exactMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:UnspecifiedMatching +MONDO:0012195 skos:exactMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:UnspecifiedMatching +MONDO:0012196 skos:exactMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0012197 skos:exactMatch OMIM:609135 aplastic anemia semapv:UnspecifiedMatching +MONDO:0012198 skos:exactMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:UnspecifiedMatching +MONDO:0012199 skos:exactMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:UnspecifiedMatching +MONDO:0012200 skos:exactMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:UnspecifiedMatching +MONDO:0012202 skos:exactMatch OMIM:609148 malaria, mild, susceptibility to semapv:UnspecifiedMatching +MONDO:0012203 skos:exactMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:UnspecifiedMatching +MONDO:0012204 skos:exactMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:UnspecifiedMatching +MONDO:0012205 skos:exactMatch OMIM:609161 striatal degeneration, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0012206 skos:exactMatch OMIM:609162 czech dysplasia semapv:UnspecifiedMatching +MONDO:0012207 skos:exactMatch OMIM:609164 umbilicus, familial flat semapv:UnspecifiedMatching +MONDO:0012208 skos:exactMatch OMIM:609165 ichthyosis with confetti semapv:UnspecifiedMatching +MONDO:0012209 skos:exactMatch OMIM:609166 branchiogenic-deafness syndrome semapv:UnspecifiedMatching +MONDO:0012210 skos:exactMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012211 skos:exactMatch OMIM:609180 congenital disorder of glycosylation, iia if semapv:UnspecifiedMatching +MONDO:0012212 skos:exactMatch OMIM:609192 loeys-dietz syndrome 1 semapv:UnspecifiedMatching +MONDO:0012213 skos:exactMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012214 skos:exactMatch OMIM:609197 glucocorticoid deficiency 3 semapv:UnspecifiedMatching +MONDO:0012215 skos:exactMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:UnspecifiedMatching +MONDO:0012216 skos:exactMatch OMIM:609218 foveal hypoplasia 2 semapv:UnspecifiedMatching +MONDO:0012217 skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:UnspecifiedMatching +MONDO:0012218 skos:exactMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012219 skos:exactMatch OMIM:609223 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia semapv:UnspecifiedMatching +MONDO:0012220 skos:exactMatch OMIM:609227 griscelli syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0012221 skos:exactMatch OMIM:609241 schindler disease, iia 1 semapv:UnspecifiedMatching +MONDO:0012222 skos:exactMatch OMIM:609242 kanzaki disease semapv:UnspecifiedMatching +MONDO:0012223 skos:exactMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:UnspecifiedMatching +MONDO:0012224 skos:exactMatch OMIM:609253 febrile seizures, familial, 6 semapv:UnspecifiedMatching +MONDO:0012225 skos:exactMatch OMIM:609254 senior-loken syndrome 5 semapv:UnspecifiedMatching +MONDO:0012226 skos:exactMatch OMIM:609255 febrile seizures, familial, 5 semapv:UnspecifiedMatching +MONDO:0012227 skos:exactMatch OMIM:609256 myopia 7 semapv:UnspecifiedMatching +MONDO:0012228 skos:exactMatch OMIM:609257 myopia 8 semapv:UnspecifiedMatching +MONDO:0012229 skos:exactMatch OMIM:609258 myopia 9 semapv:UnspecifiedMatching +MONDO:0012230 skos:exactMatch OMIM:609259 myopia 10 semapv:UnspecifiedMatching +MONDO:0012231 skos:exactMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:UnspecifiedMatching +MONDO:0012232 skos:exactMatch OMIM:609261 stuttering, familial persistent, 2 semapv:UnspecifiedMatching +MONDO:0012233 skos:exactMatch OMIM:609265 tumor predisposition syndrome 4 semapv:UnspecifiedMatching +MONDO:0012235 skos:exactMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0012236 skos:exactMatch OMIM:609271 keratoconus 4 semapv:UnspecifiedMatching +MONDO:0012237 skos:exactMatch OMIM:609273 nemaline myopathy 6 semapv:UnspecifiedMatching +MONDO:0012238 skos:exactMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0012239 skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012240 skos:exactMatch OMIM:609285 congenital myopathy 23 semapv:UnspecifiedMatching +MONDO:0012241 skos:exactMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0012242 skos:exactMatch OMIM:609289 syncope, familial vasovagal semapv:UnspecifiedMatching +MONDO:0012243 skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:UnspecifiedMatching +MONDO:0012244 skos:exactMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:UnspecifiedMatching +MONDO:0012245 skos:exactMatch OMIM:609304 developmental and epileptic encephalopathy 3 semapv:UnspecifiedMatching +MONDO:0012246 skos:exactMatch OMIM:609306 spinocerebellar ataxia 26 semapv:UnspecifiedMatching +MONDO:0012248 skos:exactMatch OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 semapv:UnspecifiedMatching +MONDO:0012249 skos:exactMatch OMIM:609310 lynch syndrome 2 semapv:UnspecifiedMatching +MONDO:0012250 skos:exactMatch OMIM:609311 charcot-marie-tooth disease, iia 4h semapv:UnspecifiedMatching +MONDO:0012251 skos:exactMatch OMIM:609313 mednik syndrome semapv:UnspecifiedMatching +MONDO:0012252 skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:UnspecifiedMatching +MONDO:0012253 skos:exactMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:UnspecifiedMatching +MONDO:0012254 skos:exactMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:UnspecifiedMatching +MONDO:0012255 skos:exactMatch OMIM:609334 chromosome 18 pericentric inversion semapv:UnspecifiedMatching +MONDO:0012256 skos:exactMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012257 skos:exactMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:UnspecifiedMatching +MONDO:0012258 skos:exactMatch OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching +MONDO:0012259 skos:exactMatch OMIM:609363 colloid cysts of third ventricle semapv:UnspecifiedMatching +MONDO:0012260 skos:exactMatch OMIM:609376 cataract 35 semapv:UnspecifiedMatching +MONDO:0012261 skos:exactMatch OMIM:609378 autism, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012262 skos:exactMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:UnspecifiedMatching +MONDO:0012263 skos:exactMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012264 skos:exactMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:UnspecifiedMatching +MONDO:0012265 skos:exactMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:UnspecifiedMatching +MONDO:0012266 skos:exactMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:UnspecifiedMatching +MONDO:0012267 skos:exactMatch OMIM:609408 holoprosencephaly 8 semapv:UnspecifiedMatching +MONDO:0012269 skos:exactMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012270 skos:exactMatch OMIM:609428 tukel syndrome semapv:UnspecifiedMatching +MONDO:0012271 skos:exactMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:UnspecifiedMatching +MONDO:0012272 skos:exactMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:UnspecifiedMatching +MONDO:0012273 skos:exactMatch OMIM:609439 deafness, autosomal recessive 48 semapv:UnspecifiedMatching +MONDO:0012274 skos:exactMatch OMIM:609441 acromesomelic dysplasia 3 semapv:UnspecifiedMatching +MONDO:0012275 skos:exactMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:UnspecifiedMatching +MONDO:0012276 skos:exactMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:UnspecifiedMatching +MONDO:0012277 skos:exactMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:UnspecifiedMatching +MONDO:0012278 skos:exactMatch OMIM:609454 supranuclear palsy, progressive, 2 semapv:UnspecifiedMatching +MONDO:0012280 skos:exactMatch OMIM:609460 goldberg-shprintzen syndrome semapv:UnspecifiedMatching +MONDO:0012282 skos:exactMatch OMIM:609465 al-gazali syndrome semapv:UnspecifiedMatching +MONDO:0012283 skos:exactMatch OMIM:609466 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss semapv:UnspecifiedMatching +MONDO:0012284 skos:exactMatch OMIM:609469 nephropathy, progressive, with deafness semapv:UnspecifiedMatching +MONDO:0012285 skos:exactMatch OMIM:609470 left ventricular noncompaction 2 semapv:UnspecifiedMatching +MONDO:0012286 skos:exactMatch OMIM:609500 myopathy, autophagic vacuolar, infantile-onset semapv:UnspecifiedMatching +MONDO:0012287 skos:exactMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:UnspecifiedMatching +MONDO:0012288 skos:exactMatch OMIM:609515 iridogoniodysgenesis and skeletal anomalies semapv:UnspecifiedMatching +MONDO:0012289 skos:exactMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:UnspecifiedMatching +MONDO:0012290 skos:exactMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:UnspecifiedMatching +MONDO:0012291 skos:exactMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:UnspecifiedMatching +MONDO:0012292 skos:exactMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:UnspecifiedMatching +MONDO:0012293 skos:exactMatch OMIM:609533 deafness, autosomal recessive 23 semapv:UnspecifiedMatching +MONDO:0012294 skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching +MONDO:0012295 skos:exactMatch OMIM:609536 complement component 5 deficiency semapv:UnspecifiedMatching +MONDO:0012296 skos:exactMatch OMIM:609537 lipomyelomeningocele semapv:UnspecifiedMatching +MONDO:0012297 skos:exactMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:UnspecifiedMatching +MONDO:0012298 skos:exactMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:UnspecifiedMatching +MONDO:0012299 skos:exactMatch OMIM:609549 nanophthalmos 2 semapv:UnspecifiedMatching +MONDO:0012300 skos:exactMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:UnspecifiedMatching +MONDO:0012301 skos:exactMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:UnspecifiedMatching +MONDO:0012302 skos:exactMatch OMIM:609566 parietal foramina 3 semapv:UnspecifiedMatching +MONDO:0012303 skos:exactMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012304 skos:exactMatch OMIM:609572 photoparoxysmal response 2 semapv:UnspecifiedMatching +MONDO:0012305 skos:exactMatch OMIM:609573 photoparoxysmal response 3 semapv:UnspecifiedMatching +MONDO:0012306 skos:exactMatch OMIM:609578 cardiomyopathy, familial restrictive, 2 semapv:UnspecifiedMatching +MONDO:0012307 skos:exactMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0012308 skos:exactMatch OMIM:609583 joubert syndrome 4 semapv:UnspecifiedMatching +MONDO:0012309 skos:exactMatch OMIM:609597 parietal foramina 2 semapv:UnspecifiedMatching +MONDO:0012310 skos:exactMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:UnspecifiedMatching +MONDO:0012311 skos:exactMatch OMIM:609616 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness semapv:UnspecifiedMatching +MONDO:0012312 skos:exactMatch OMIM:609620 short qt syndrome 1 semapv:UnspecifiedMatching +MONDO:0012313 skos:exactMatch OMIM:609621 short qt syndrome 2 semapv:UnspecifiedMatching +MONDO:0012314 skos:exactMatch OMIM:609622 short qt syndrome 3 semapv:UnspecifiedMatching +MONDO:0012315 skos:exactMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012316 skos:exactMatch OMIM:609628 majeed syndrome semapv:UnspecifiedMatching +MONDO:0012317 skos:exactMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012318 skos:exactMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0012319 skos:exactMatch OMIM:609633 major affective disorder 3 semapv:UnspecifiedMatching +MONDO:0012320 skos:exactMatch OMIM:609634 migraine, familial hemiplegic, 3 semapv:UnspecifiedMatching +MONDO:0012321 skos:exactMatch OMIM:609636 alzheimer disease 10 semapv:UnspecifiedMatching +MONDO:0012322 skos:exactMatch OMIM:609637 holoprosencephaly 5 semapv:UnspecifiedMatching +MONDO:0012323 skos:exactMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:UnspecifiedMatching +MONDO:0012324 skos:exactMatch OMIM:609640 frias syndrome semapv:UnspecifiedMatching +MONDO:0012325 skos:exactMatch OMIM:609643 nguyen syndrome semapv:UnspecifiedMatching +MONDO:0012326 skos:exactMatch OMIM:609646 deafness, autosomal recessive 42 semapv:UnspecifiedMatching +MONDO:0012327 skos:exactMatch OMIM:609647 deafness, autosomal recessive 46 semapv:UnspecifiedMatching +MONDO:0012328 skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:UnspecifiedMatching +MONDO:0012329 skos:exactMatch OMIM:609654 short stature and facioauriculothoracic malformations semapv:UnspecifiedMatching +MONDO:0012330 skos:exactMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:UnspecifiedMatching +MONDO:0012331 skos:exactMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012333 skos:exactMatch OMIM:609706 deafness, autosomal recessive 53 semapv:UnspecifiedMatching +MONDO:0012334 skos:exactMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012335 skos:exactMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:UnspecifiedMatching +MONDO:0012336 skos:exactMatch OMIM:609741 cataract 22, multiple types semapv:UnspecifiedMatching +MONDO:0012337 skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching +MONDO:0012338 skos:exactMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012339 skos:exactMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012340 skos:exactMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012341 skos:exactMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012342 skos:exactMatch OMIM:609757 williams-beuren region duplication syndrome semapv:UnspecifiedMatching +MONDO:0012343 skos:exactMatch OMIM:609782 aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching +MONDO:0012344 skos:exactMatch OMIM:609790 alzheimer disease 11 semapv:UnspecifiedMatching +MONDO:0012345 skos:exactMatch OMIM:609796 peeling skin syndrome 2 semapv:UnspecifiedMatching +MONDO:0012346 skos:exactMatch OMIM:609800 generalized epilepsy with febrile seizures plus, iia 4 semapv:UnspecifiedMatching +MONDO:0012347 skos:exactMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:UnspecifiedMatching +MONDO:0012348 skos:exactMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:UnspecifiedMatching +MONDO:0012349 skos:exactMatch OMIM:609813 spondylocostal dysostosis 3, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012350 skos:exactMatch OMIM:609814 complement factor h deficiency semapv:UnspecifiedMatching +MONDO:0012351 skos:exactMatch OMIM:609815 zygodactyly 1 semapv:UnspecifiedMatching +MONDO:0012352 skos:exactMatch OMIM:609817 vasculitis, lymphocytic, cutaneous small vessel semapv:UnspecifiedMatching +MONDO:0012353 skos:exactMatch OMIM:609820 erythrocytosis, familial, 3 semapv:UnspecifiedMatching +MONDO:0012354 skos:exactMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:UnspecifiedMatching +MONDO:0012355 skos:exactMatch OMIM:609823 deafness, autosomal recessive 28 semapv:UnspecifiedMatching +MONDO:0012357 skos:exactMatch OMIM:609887 glaucoma 1, open angle, g semapv:UnspecifiedMatching +MONDO:0012358 skos:exactMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0012359 skos:exactMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:UnspecifiedMatching +MONDO:0012360 skos:exactMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:UnspecifiedMatching +MONDO:0012361 skos:exactMatch OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012362 skos:exactMatch OMIM:609909 cardiomyopathy, dilated, 1p semapv:UnspecifiedMatching +MONDO:0012363 skos:exactMatch OMIM:609913 retinitis pigmentosa 32 semapv:UnspecifiedMatching +MONDO:0012364 skos:exactMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:UnspecifiedMatching +MONDO:0012365 skos:exactMatch OMIM:609918 gallbladder disease 2 semapv:UnspecifiedMatching +MONDO:0012366 skos:exactMatch OMIM:609919 gallbladder disease 3 semapv:UnspecifiedMatching +MONDO:0012367 skos:exactMatch OMIM:609923 retinitis pigmentosa 31 semapv:UnspecifiedMatching +MONDO:0012368 skos:exactMatch OMIM:609924 aminoacylase 1 deficiency semapv:UnspecifiedMatching +MONDO:0012369 skos:exactMatch OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012370 skos:exactMatch OMIM:609941 deafness, autosomal recessive 51 semapv:UnspecifiedMatching +MONDO:0012371 skos:exactMatch OMIM:609942 noonan syndrome 3 semapv:UnspecifiedMatching +MONDO:0012373 skos:exactMatch OMIM:609944 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features semapv:UnspecifiedMatching +MONDO:0012374 skos:exactMatch OMIM:609945 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia semapv:UnspecifiedMatching +MONDO:0012375 skos:exactMatch OMIM:609946 deafness, autosomal recessive 47 semapv:UnspecifiedMatching +MONDO:0012376 skos:exactMatch OMIM:609952 deafness, autosomal recessive 55 semapv:UnspecifiedMatching +MONDO:0012377 skos:exactMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012378 skos:exactMatch OMIM:609955 fibromatosis, gingival, 3 semapv:UnspecifiedMatching +MONDO:0012379 skos:exactMatch OMIM:609958 asthma-related traits, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012380 skos:exactMatch OMIM:609965 deafness, autosomal dominant 53 semapv:UnspecifiedMatching +MONDO:0012381 skos:exactMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:UnspecifiedMatching +MONDO:0012382 skos:exactMatch OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 semapv:UnspecifiedMatching +MONDO:0012383 skos:exactMatch OMIM:609981 immunodeficiency 54 semapv:UnspecifiedMatching +MONDO:0012384 skos:exactMatch OMIM:609985 panic disorder 3 semapv:UnspecifiedMatching +MONDO:0012385 skos:exactMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:UnspecifiedMatching +MONDO:0012386 skos:exactMatch OMIM:609990 trichoscyphodysplasia semapv:UnspecifiedMatching +MONDO:0012387 skos:exactMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:UnspecifiedMatching +MONDO:0012388 skos:exactMatch OMIM:609994 myopia 11, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012389 skos:exactMatch OMIM:609995 myopia 12, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012390 skos:exactMatch OMIM:610001 arthrogryposis multiplex with deafness, inguinal hernias, and early death semapv:UnspecifiedMatching +MONDO:0012391 skos:exactMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:UnspecifiedMatching +MONDO:0012392 skos:exactMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0012393 skos:exactMatch OMIM:610015 glutamine deficiency, congenital semapv:UnspecifiedMatching +MONDO:0012394 skos:exactMatch OMIM:610017 multiple synostoses syndrome 2 semapv:UnspecifiedMatching +MONDO:0012395 skos:exactMatch OMIM:610019 cataract 18 semapv:UnspecifiedMatching +MONDO:0012396 skos:exactMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:UnspecifiedMatching +MONDO:0012397 skos:exactMatch OMIM:610023 brachydactyly, coloboma, and anterior segment dysgenesis semapv:UnspecifiedMatching +MONDO:0012398 skos:exactMatch OMIM:610024 retinal cone dystrophy 3a semapv:UnspecifiedMatching +MONDO:0012399 skos:exactMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:UnspecifiedMatching +MONDO:0012400 skos:exactMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:UnspecifiedMatching +MONDO:0012401 skos:exactMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:UnspecifiedMatching +MONDO:0012402 skos:exactMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0012403 skos:exactMatch OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012404 skos:exactMatch OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012405 skos:exactMatch OMIM:610069 polyposis syndrome, hereditary mixed, 2 semapv:UnspecifiedMatching +MONDO:0012406 skos:exactMatch OMIM:610071 hyperparathyroidism 3 semapv:UnspecifiedMatching +MONDO:0012407 skos:exactMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:UnspecifiedMatching +MONDO:0012408 skos:exactMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:UnspecifiedMatching +MONDO:0012409 skos:exactMatch OMIM:610093 microphthalmia, isolated 2 semapv:UnspecifiedMatching +MONDO:0012410 skos:exactMatch OMIM:610099 myopathy, distal, 3 semapv:UnspecifiedMatching +MONDO:0012411 skos:exactMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012412 skos:exactMatch OMIM:610102 complement component 7 deficiency semapv:UnspecifiedMatching +MONDO:0012413 skos:exactMatch OMIM:610125 microphthalmia, syndromic 5 semapv:UnspecifiedMatching +MONDO:0012414 skos:exactMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:UnspecifiedMatching +MONDO:0012415 skos:exactMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:UnspecifiedMatching +MONDO:0012416 skos:exactMatch OMIM:610136 devriendt syndrome semapv:UnspecifiedMatching +MONDO:0012417 skos:exactMatch OMIM:610140 heart-hand syndrome, slovenian iia semapv:UnspecifiedMatching +MONDO:0012418 skos:exactMatch OMIM:610143 deafness, autosomal recessive 62 semapv:UnspecifiedMatching +MONDO:0012419 skos:exactMatch OMIM:610149 macular degeneration, age-related, 7 semapv:UnspecifiedMatching +MONDO:0012420 skos:exactMatch OMIM:610153 deafness, autosomal recessive 49 semapv:UnspecifiedMatching +MONDO:0012421 skos:exactMatch OMIM:610154 deafness, autosomal recessive 44 semapv:UnspecifiedMatching +MONDO:0012422 skos:exactMatch OMIM:610155 iia 1 diabetes mellitus 19 semapv:UnspecifiedMatching +MONDO:0012423 skos:exactMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:UnspecifiedMatching +MONDO:0012424 skos:exactMatch OMIM:610157 heat-shock RNA 1 semapv:UnspecifiedMatching +MONDO:0012425 skos:exactMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:UnspecifiedMatching +MONDO:0012426 skos:exactMatch OMIM:610163 immunodeficiency 25 semapv:UnspecifiedMatching +MONDO:0012427 skos:exactMatch OMIM:610168 loeys-dietz syndrome 2 semapv:UnspecifiedMatching +MONDO:0012428 skos:exactMatch OMIM:610170 kyphoscoliosis 1 semapv:UnspecifiedMatching +MONDO:0012429 skos:exactMatch OMIM:610181 aicardi-goutieres syndrome 2 semapv:UnspecifiedMatching +MONDO:0012430 skos:exactMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:UnspecifiedMatching +MONDO:0012431 skos:exactMatch OMIM:610187 diaphragmatic hernia 3 semapv:UnspecifiedMatching +MONDO:0012432 skos:exactMatch OMIM:610188 joubert syndrome 5 semapv:UnspecifiedMatching +MONDO:0012433 skos:exactMatch OMIM:610189 senior-loken syndrome 6 semapv:UnspecifiedMatching +MONDO:0012434 skos:exactMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:UnspecifiedMatching +MONDO:0012435 skos:exactMatch OMIM:610198 3-methylglutaconic aciduria, iia 5 semapv:UnspecifiedMatching +MONDO:0012436 skos:exactMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:UnspecifiedMatching +MONDO:0012437 skos:exactMatch OMIM:610202 cataract 21, multiple types semapv:UnspecifiedMatching +MONDO:0012438 skos:exactMatch OMIM:610204 pontocerebellar hypoplasia, iia 5 semapv:UnspecifiedMatching +MONDO:0012439 skos:exactMatch OMIM:610205 alagille syndrome 2 semapv:UnspecifiedMatching +MONDO:0012440 skos:exactMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012441 skos:exactMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0012442 skos:exactMatch OMIM:610212 deafness, autosomal recessive 66 semapv:UnspecifiedMatching +MONDO:0012443 skos:exactMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:UnspecifiedMatching +MONDO:0012444 skos:exactMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:UnspecifiedMatching +MONDO:0012445 skos:exactMatch OMIM:610220 deafness, autosomal recessive 59 semapv:UnspecifiedMatching +MONDO:0012446 skos:exactMatch OMIM:610227 seborrhea-like dermatitis with psoriasiform elements semapv:UnspecifiedMatching +MONDO:0012447 skos:exactMatch OMIM:610234 synpolydactyly 3 semapv:UnspecifiedMatching +MONDO:0012448 skos:exactMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012449 skos:exactMatch OMIM:610245 spinocerebellar ataxia 23 semapv:UnspecifiedMatching +MONDO:0012450 skos:exactMatch OMIM:610246 spinocerebellar ataxia 28 semapv:UnspecifiedMatching +MONDO:0012451 skos:exactMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:UnspecifiedMatching +MONDO:0012452 skos:exactMatch OMIM:610248 deafness, autosomal recessive 65 semapv:UnspecifiedMatching +MONDO:0012453 skos:exactMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012454 skos:exactMatch OMIM:610251 alcohol sensitivity, acute semapv:UnspecifiedMatching +MONDO:0012455 skos:exactMatch omim.ps:610253 Kleefstra syndrome semapv:UnspecifiedMatching +MONDO:0012456 skos:exactMatch OMIM:610256 anterior segment dysgenesis 2 semapv:UnspecifiedMatching +MONDO:0012457 skos:exactMatch OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 semapv:UnspecifiedMatching +MONDO:0012458 skos:exactMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012459 skos:exactMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012460 skos:exactMatch OMIM:610265 deafness, autosomal recessive 67 semapv:UnspecifiedMatching +MONDO:0012461 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching +MONDO:0012462 skos:exactMatch OMIM:610279 pachygyria, frontotemporal semapv:UnspecifiedMatching +MONDO:0012463 skos:exactMatch OMIM:610282 retinitis pigmentosa 35 semapv:UnspecifiedMatching +MONDO:0012464 skos:exactMatch OMIM:610283 cone-rod dystrophy 10 semapv:UnspecifiedMatching +MONDO:0012465 skos:exactMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:UnspecifiedMatching +MONDO:0012466 skos:exactMatch OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0012467 skos:exactMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:UnspecifiedMatching +MONDO:0012468 skos:exactMatch OMIM:610319 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0012469 skos:exactMatch OMIM:610320 myopia 14 semapv:UnspecifiedMatching +MONDO:0012470 skos:exactMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:UnspecifiedMatching +MONDO:0012471 skos:exactMatch OMIM:610329 aicardi-goutieres syndrome 3 semapv:UnspecifiedMatching +MONDO:0012472 skos:exactMatch OMIM:610333 aicardi-goutieres syndrome 4 semapv:UnspecifiedMatching +MONDO:0012473 skos:exactMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:UnspecifiedMatching +MONDO:0012474 skos:exactMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:UnspecifiedMatching +MONDO:0012475 skos:exactMatch OMIM:610356 retinal cone dystrophy 3b semapv:UnspecifiedMatching +MONDO:0012476 skos:exactMatch OMIM:610357 spastic paraplegia 30, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012477 skos:exactMatch OMIM:610359 retinitis pigmentosa 33 semapv:UnspecifiedMatching +MONDO:0012478 skos:exactMatch OMIM:610361 orofacial cleft 9 semapv:UnspecifiedMatching +MONDO:0012479 skos:exactMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:UnspecifiedMatching +MONDO:0012480 skos:exactMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:UnspecifiedMatching +MONDO:0012481 skos:exactMatch OMIM:610377 mevalonic aciduria semapv:UnspecifiedMatching +MONDO:0012482 skos:exactMatch OMIM:610379 west nile virus, susceptibility to semapv:UnspecifiedMatching +MONDO:0012483 skos:exactMatch OMIM:610381 cone-rod dystrophy 11 semapv:UnspecifiedMatching +MONDO:0012484 skos:exactMatch OMIM:610382 prosopagnosia, hereditary semapv:UnspecifiedMatching +MONDO:0012485 skos:exactMatch OMIM:610419 deafness, autosomal recessive 68 semapv:UnspecifiedMatching +MONDO:0012486 skos:exactMatch OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 semapv:UnspecifiedMatching +MONDO:0012487 skos:exactMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:UnspecifiedMatching +MONDO:0012488 skos:exactMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:UnspecifiedMatching +MONDO:0012489 skos:exactMatch OMIM:610425 cataract 23, multiple types semapv:UnspecifiedMatching +MONDO:0012490 skos:exactMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:UnspecifiedMatching +MONDO:0012491 skos:exactMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012492 skos:exactMatch OMIM:610438 restless legs syndrome, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012493 skos:exactMatch OMIM:610439 restless legs syndrome, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012494 skos:exactMatch OMIM:610441 testicular microlithiasis semapv:UnspecifiedMatching +MONDO:0012495 skos:exactMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia semapv:UnspecifiedMatching +MONDO:0012496 skos:exactMatch OMIM:610443 koolen-de vries syndrome semapv:UnspecifiedMatching +MONDO:0012497 skos:exactMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0012498 skos:exactMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0012499 skos:exactMatch OMIM:610446 buruli ulcer, susceptibility to semapv:UnspecifiedMatching +MONDO:0012500 skos:exactMatch OMIM:610448 chilblain lupus 1 semapv:UnspecifiedMatching +MONDO:0012501 skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching +MONDO:0012502 skos:exactMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:UnspecifiedMatching +MONDO:0012503 skos:exactMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:UnspecifiedMatching +MONDO:0012504 skos:exactMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:UnspecifiedMatching +MONDO:0012505 skos:exactMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:UnspecifiedMatching +MONDO:0012506 skos:exactMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:UnspecifiedMatching +MONDO:0012507 skos:exactMatch OMIM:610478 retinal cone dystrophy 4 semapv:UnspecifiedMatching +MONDO:0012508 skos:exactMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:UnspecifiedMatching +MONDO:0012509 skos:exactMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:UnspecifiedMatching +MONDO:0012510 skos:exactMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:UnspecifiedMatching +MONDO:0012511 skos:exactMatch OMIM:610504 preterm premature rupture of the membranes semapv:UnspecifiedMatching +MONDO:0012512 skos:exactMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:UnspecifiedMatching +MONDO:0012513 skos:exactMatch OMIM:610508 maturity-onset diabetes of the young, iia 7 semapv:UnspecifiedMatching +MONDO:0012514 skos:exactMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:UnspecifiedMatching +MONDO:0012515 skos:exactMatch OMIM:610535 glaucoma 1, open angle, m semapv:UnspecifiedMatching +MONDO:0012516 skos:exactMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:UnspecifiedMatching +MONDO:0012517 skos:exactMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:UnspecifiedMatching +MONDO:0012518 skos:exactMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:UnspecifiedMatching +MONDO:0012519 skos:exactMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:UnspecifiedMatching +MONDO:0012520 skos:exactMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:UnspecifiedMatching +MONDO:0012522 skos:exactMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:UnspecifiedMatching +MONDO:0012523 skos:exactMatch OMIM:610599 retinitis pigmentosa 36 semapv:UnspecifiedMatching +MONDO:0012524 skos:exactMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:UnspecifiedMatching +MONDO:0012525 skos:exactMatch OMIM:610612 leber congenital amaurosis 12 semapv:UnspecifiedMatching +MONDO:0012526 skos:exactMatch OMIM:610618 angioedema, hereditary, 3 semapv:UnspecifiedMatching +MONDO:0012527 skos:exactMatch OMIM:610623 cataract 11, multiple types semapv:UnspecifiedMatching +MONDO:0012528 skos:exactMatch OMIM:610628 hypogonadotropic hypogonadism 4 with or without anosmia semapv:UnspecifiedMatching +MONDO:0012529 skos:exactMatch OMIM:610629 diamond-blackfan anemia 3 semapv:UnspecifiedMatching +MONDO:0012530 skos:exactMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:UnspecifiedMatching +MONDO:0012531 skos:exactMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:UnspecifiedMatching +MONDO:0012532 skos:exactMatch OMIM:610655 telangiectasia, hereditary hemorrhagic, iia 4 semapv:UnspecifiedMatching +MONDO:0012533 skos:exactMatch OMIM:610676 autism, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012534 skos:exactMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:UnspecifiedMatching +MONDO:0012535 skos:exactMatch OMIM:610680 holoprosencephaly, recurrent infections, and monocytosis semapv:UnspecifiedMatching +MONDO:0012536 skos:exactMatch OMIM:610682 osteogenesis imperfecta, iia 7 semapv:UnspecifiedMatching +MONDO:0012537 skos:exactMatch OMIM:610685 split-hand/foot malformation with long bone deficiency 2 semapv:UnspecifiedMatching +MONDO:0012538 skos:exactMatch OMIM:610687 nemaline myopathy 7 semapv:UnspecifiedMatching +MONDO:0012539 skos:exactMatch OMIM:610688 joubert syndrome 6 semapv:UnspecifiedMatching +MONDO:0012540 skos:exactMatch OMIM:610698 macular degeneration, age-related, 4 semapv:UnspecifiedMatching +MONDO:0012541 skos:exactMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:UnspecifiedMatching +MONDO:0012542 skos:exactMatch OMIM:610707 psoriasis 8, susceptibility to semapv:UnspecifiedMatching +MONDO:0012543 skos:exactMatch OMIM:610708 optic atrophy 5 semapv:UnspecifiedMatching +MONDO:0012544 skos:exactMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:UnspecifiedMatching +MONDO:0012545 skos:exactMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:UnspecifiedMatching +MONDO:0012546 skos:exactMatch OMIM:610725 nephrotic syndrome, iia 3 semapv:UnspecifiedMatching +MONDO:0012547 skos:exactMatch OMIM:610733 noonan syndrome 4 semapv:UnspecifiedMatching +MONDO:0012548 skos:exactMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012549 skos:exactMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0012550 skos:exactMatch OMIM:610744 iris pattern semapv:UnspecifiedMatching +MONDO:0012551 skos:exactMatch OMIM:610753 alopecia areata 2 semapv:UnspecifiedMatching +MONDO:0012552 skos:exactMatch OMIM:610755 multiple endocrine neoplasia, iia 4 semapv:UnspecifiedMatching +MONDO:0012553 skos:exactMatch OMIM:610756 cerebrooculofacioskeletal syndrome 2 semapv:UnspecifiedMatching +MONDO:0012554 skos:exactMatch OMIM:610758 cerebrooculofacioskeletal syndrome 4 semapv:UnspecifiedMatching +MONDO:0012555 skos:exactMatch OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects semapv:UnspecifiedMatching +MONDO:0012556 skos:exactMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:UnspecifiedMatching +MONDO:0012557 skos:exactMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:UnspecifiedMatching +MONDO:0012558 skos:exactMatch OMIM:610797 epiphyseal dysplasia, baumann iia semapv:UnspecifiedMatching +MONDO:0012559 skos:exactMatch OMIM:610798 immunodeficiency due to defect 1n mapbp-interacting protein semapv:UnspecifiedMatching +MONDO:0012560 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching +MONDO:0012561 skos:exactMatch OMIM:610805 congenital anomalies of kidney and urinary tract 1 semapv:UnspecifiedMatching +MONDO:0012562 skos:exactMatch OMIM:610828 holoprosencephaly 7 semapv:UnspecifiedMatching +MONDO:0012563 skos:exactMatch OMIM:610829 holoprosencephaly 9 semapv:UnspecifiedMatching +MONDO:0012564 skos:exactMatch OMIM:610830 polyosteolysis-hyperostosis syndrome semapv:UnspecifiedMatching +MONDO:0012565 skos:exactMatch OMIM:610832 fanconi anemia, complementation group n semapv:UnspecifiedMatching +MONDO:0012566 skos:exactMatch OMIM:610836 autism, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0012567 skos:exactMatch OMIM:610838 autism, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0012568 skos:exactMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:UnspecifiedMatching +MONDO:0012569 skos:exactMatch OMIM:610840 mitral valve prolapse 3 semapv:UnspecifiedMatching +MONDO:0012570 skos:exactMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:UnspecifiedMatching +MONDO:0012571 skos:exactMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:UnspecifiedMatching +MONDO:0012572 skos:exactMatch OMIM:610871 sakoda complex semapv:UnspecifiedMatching +MONDO:0012573 skos:exactMatch OMIM:610878 vesicoureteral reflux 2 semapv:UnspecifiedMatching +MONDO:0012574 skos:exactMatch OMIM:610883 potocki-lupski syndrome semapv:UnspecifiedMatching +MONDO:0012575 skos:exactMatch OMIM:610896 branchiootorenal syndrome 2 semapv:UnspecifiedMatching +MONDO:0012576 skos:exactMatch OMIM:610898 supranuclear palsy, progressive, 3 semapv:UnspecifiedMatching +MONDO:0012577 skos:exactMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012578 skos:exactMatch OMIM:610908 autism, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0012579 skos:exactMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:UnspecifiedMatching +MONDO:0012580 skos:exactMatch omim.ps:265120 Surfactant metabolism dysfunction, pulmonary semapv:UnspecifiedMatching +MONDO:0012581 skos:exactMatch OMIM:610915 osteogenesis imperfecta, iia 8 semapv:UnspecifiedMatching +MONDO:0012582 skos:exactMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:UnspecifiedMatching +MONDO:0012583 skos:exactMatch OMIM:610926 tooth agenesis, selective, 5 semapv:UnspecifiedMatching +MONDO:0012584 skos:exactMatch OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012585 skos:exactMatch OMIM:610938 coronary heart disease, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012586 skos:exactMatch OMIM:610947 coronary artery disease, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0012587 skos:exactMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012588 skos:exactMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:UnspecifiedMatching +MONDO:0012589 skos:exactMatch OMIM:610954 pitt-hopkins syndrome semapv:UnspecifiedMatching +MONDO:0012590 skos:exactMatch OMIM:610965 xfe progeroid syndrome semapv:UnspecifiedMatching +MONDO:0012591 skos:exactMatch OMIM:610967 osteogenesis imperfecta, iia 5 semapv:UnspecifiedMatching +MONDO:0012592 skos:exactMatch OMIM:610968 osteogenesis imperfecta, iia 11 semapv:UnspecifiedMatching +MONDO:0012593 skos:exactMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:UnspecifiedMatching +MONDO:0012594 skos:exactMatch OMIM:610984 complement factor 1 deficiency semapv:UnspecifiedMatching +MONDO:0012595 skos:exactMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012596 skos:exactMatch OMIM:610992 phosphoserine aminotransferase deficiency semapv:UnspecifiedMatching +MONDO:0012597 skos:exactMatch OMIM:610997 prostate cancer, hereditary, 9 semapv:UnspecifiedMatching +MONDO:0012598 skos:exactMatch OMIM:611010 fibromatosis, gingival, 4 semapv:UnspecifiedMatching +MONDO:0012599 skos:exactMatch OMIM:611014 hypertension, essential, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012600 skos:exactMatch OMIM:611015 autism, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012601 skos:exactMatch OMIM:611016 autism, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012602 skos:exactMatch OMIM:611022 deafness, autosomal recessive 24 semapv:UnspecifiedMatching +MONDO:0012603 skos:exactMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:UnspecifiedMatching +MONDO:0012604 skos:exactMatch OMIM:611038 microphthalmia, syndromic 16 semapv:UnspecifiedMatching +MONDO:0012605 skos:exactMatch OMIM:611040 microphthalmia, isolated 5 semapv:UnspecifiedMatching +MONDO:0012606 skos:exactMatch OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012607 skos:exactMatch OMIM:611064 asthma-related traits, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012608 skos:exactMatch OMIM:611067 neuronopathy, distal hereditary motor, autosomal recessive 4 semapv:UnspecifiedMatching +MONDO:0012609 skos:exactMatch OMIM:611073 alzheimer disease 12 semapv:UnspecifiedMatching +MONDO:0012610 skos:exactMatch OMIM:611081 inflammatory bowel disease (crohn disease) 10 semapv:UnspecifiedMatching +MONDO:0012611 skos:exactMatch OMIM:611087 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:UnspecifiedMatching +MONDO:0012612 skos:exactMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:UnspecifiedMatching +MONDO:0012613 skos:exactMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0012614 skos:exactMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0012615 skos:exactMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0012617 skos:exactMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:UnspecifiedMatching +MONDO:0012618 skos:exactMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:UnspecifiedMatching +MONDO:0012619 skos:exactMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:UnspecifiedMatching +MONDO:0012620 skos:exactMatch OMIM:611100 prostate cancer, hereditary, 10 semapv:UnspecifiedMatching +MONDO:0012621 skos:exactMatch OMIM:611102 deafness-infertility syndrome semapv:UnspecifiedMatching +MONDO:0012622 skos:exactMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:UnspecifiedMatching +MONDO:0012623 skos:exactMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:UnspecifiedMatching +MONDO:0012624 skos:exactMatch OMIM:611126 mitochondrial complex 1 deficiency, nuclear iia 20 semapv:UnspecifiedMatching +MONDO:0012625 skos:exactMatch OMIM:611131 retinitis pigmentosa 37 semapv:UnspecifiedMatching +MONDO:0012626 skos:exactMatch OMIM:611134 meckel syndrome, iia 4 semapv:UnspecifiedMatching +MONDO:0012627 skos:exactMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0012628 skos:exactMatch OMIM:611139 coronary heart disease, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012629 skos:exactMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:UnspecifiedMatching +MONDO:0012630 skos:exactMatch OMIM:611152 alzheimer disease 13 semapv:UnspecifiedMatching +MONDO:0012631 skos:exactMatch OMIM:611154 alzheimer disease 14 semapv:UnspecifiedMatching +MONDO:0012634 skos:exactMatch OMIM:611174 hamamy syndrome semapv:UnspecifiedMatching +MONDO:0012635 skos:exactMatch OMIM:611182 congenital disorder of glycosylation, iia iih semapv:UnspecifiedMatching +MONDO:0012636 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012637 skos:exactMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:UnspecifiedMatching +MONDO:0012638 skos:exactMatch OMIM:611222 microphthalmia, syndromic 10 semapv:UnspecifiedMatching +MONDO:0012639 skos:exactMatch OMIM:611225 spastic paraplegia 18b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012640 skos:exactMatch OMIM:611228 charcot-marie-tooth disease, iia 4j semapv:UnspecifiedMatching +MONDO:0012641 skos:exactMatch OMIM:611242 restless legs syndrome, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012642 skos:exactMatch OMIM:611247 major affective disorder 4 semapv:UnspecifiedMatching +MONDO:0012643 skos:exactMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012644 skos:exactMatch OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0012645 skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:UnspecifiedMatching +MONDO:0012646 skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching +MONDO:0012648 skos:exactMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0012650 skos:exactMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:UnspecifiedMatching +MONDO:0012651 skos:exactMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012652 skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching +MONDO:0012653 skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012654 skos:exactMatch OMIM:611363 atrial septal defect 4 semapv:UnspecifiedMatching +MONDO:0012655 skos:exactMatch OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012656 skos:exactMatch OMIM:611369 lethal congenital contracture syndrome 3 semapv:UnspecifiedMatching +MONDO:0012657 skos:exactMatch OMIM:611376 mungan syndrome semapv:UnspecifiedMatching +MONDO:0012658 skos:exactMatch OMIM:611377 brachydactyly, iia b2 semapv:UnspecifiedMatching +MONDO:0012659 skos:exactMatch OMIM:611378 macular degeneration, age-related, 9 semapv:UnspecifiedMatching +MONDO:0012660 skos:exactMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012661 skos:exactMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012662 skos:exactMatch OMIM:611383 usher syndrome, iia 2d semapv:UnspecifiedMatching +MONDO:0012663 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching +MONDO:0012664 skos:exactMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012665 skos:exactMatch OMIM:611391 cataract 33, multiple types semapv:UnspecifiedMatching +MONDO:0012666 skos:exactMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012667 skos:exactMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:UnspecifiedMatching +MONDO:0012668 skos:exactMatch OMIM:611426 tented eyebrows semapv:UnspecifiedMatching +MONDO:0012669 skos:exactMatch OMIM:611431 legius syndrome semapv:UnspecifiedMatching +MONDO:0012670 skos:exactMatch OMIM:611451 deafness, autosomal recessive 63 semapv:UnspecifiedMatching +MONDO:0012671 skos:exactMatch OMIM:611456 tremor, hereditary essential, 3 semapv:UnspecifiedMatching +MONDO:0012672 skos:exactMatch OMIM:611465 gallbladder disease 4 semapv:UnspecifiedMatching +MONDO:0012673 skos:exactMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012674 skos:exactMatch OMIM:611488 macular degeneration, age-related, 10 semapv:UnspecifiedMatching +MONDO:0012675 skos:exactMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching +MONDO:0012676 skos:exactMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:UnspecifiedMatching +MONDO:0012677 skos:exactMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:UnspecifiedMatching +MONDO:0012678 skos:exactMatch OMIM:611494 atrial fibrillation, familial, 5 semapv:UnspecifiedMatching +MONDO:0012679 skos:exactMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0012680 skos:exactMatch OMIM:611498 nephronophthisis 7 semapv:UnspecifiedMatching +MONDO:0012681 skos:exactMatch OMIM:611515 febrile seizures, familial, 7 semapv:UnspecifiedMatching +MONDO:0012682 skos:exactMatch OMIM:611521 immunodeficiency 35 semapv:UnspecifiedMatching +MONDO:0012683 skos:exactMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:UnspecifiedMatching +MONDO:0012684 skos:exactMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:UnspecifiedMatching +MONDO:0012685 skos:exactMatch OMIM:611535 major affective disorder 5 semapv:UnspecifiedMatching +MONDO:0012686 skos:exactMatch OMIM:611536 major affective disorder 6 semapv:UnspecifiedMatching +MONDO:0012687 skos:exactMatch OMIM:611543 cavitary optic disc anomalies semapv:UnspecifiedMatching +MONDO:0012688 skos:exactMatch OMIM:611544 cataract 17, multiple types semapv:UnspecifiedMatching +MONDO:0012689 skos:exactMatch OMIM:611548 premature ovarian failure 5 semapv:UnspecifiedMatching +MONDO:0012690 skos:exactMatch OMIM:611553 noonan syndrome 5 semapv:UnspecifiedMatching +MONDO:0012691 skos:exactMatch OMIM:611554 leopard syndrome 2 semapv:UnspecifiedMatching +MONDO:0012692 skos:exactMatch OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies semapv:UnspecifiedMatching +MONDO:0012693 skos:exactMatch OMIM:611556 glycogen storage disease 0, muscle semapv:UnspecifiedMatching +MONDO:0012694 skos:exactMatch OMIM:611560 joubert syndrome 7 semapv:UnspecifiedMatching +MONDO:0012695 skos:exactMatch OMIM:611561 meckel syndrome, iia 5 semapv:UnspecifiedMatching +MONDO:0012696 skos:exactMatch OMIM:611571 otosclerosis 4 semapv:UnspecifiedMatching +MONDO:0012697 skos:exactMatch OMIM:611572 otosclerosis 7 semapv:UnspecifiedMatching +MONDO:0012698 skos:exactMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:UnspecifiedMatching +MONDO:0012699 skos:exactMatch OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 semapv:UnspecifiedMatching +MONDO:0012700 skos:exactMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:UnspecifiedMatching +MONDO:0012701 skos:exactMatch OMIM:611597 cataract 12, multiple types semapv:UnspecifiedMatching +MONDO:0012702 skos:exactMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012703 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:UnspecifiedMatching +MONDO:0012704 skos:exactMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:UnspecifiedMatching +MONDO:0012705 skos:exactMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:UnspecifiedMatching +MONDO:0012706 skos:exactMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:UnspecifiedMatching +MONDO:0012707 skos:exactMatch OMIM:611634 febrile seizures, familial, 9 semapv:UnspecifiedMatching +MONDO:0012708 skos:exactMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:UnspecifiedMatching +MONDO:0012709 skos:exactMatch OMIM:611638 microphthalmia, isolated, with coloboma 5 semapv:UnspecifiedMatching +MONDO:0012710 skos:exactMatch OMIM:611644 hirschsprung disease, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012711 skos:exactMatch OMIM:611650 peripapillary atrophy, beta iia semapv:UnspecifiedMatching +MONDO:0012712 skos:exactMatch OMIM:611694 dystonia with cerebellar atrophy semapv:UnspecifiedMatching +MONDO:0012713 skos:exactMatch OMIM:611702 spondylometaphyseal dysplasia, east african iia semapv:UnspecifiedMatching +MONDO:0012714 skos:exactMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:UnspecifiedMatching +MONDO:0012715 skos:exactMatch OMIM:611706 migraine with or without aura, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0012716 skos:exactMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:UnspecifiedMatching +MONDO:0012717 skos:exactMatch OMIM:611718 hypomagnesemia 4, renal semapv:UnspecifiedMatching +MONDO:0012718 skos:exactMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:UnspecifiedMatching +MONDO:0012719 skos:exactMatch OMIM:611721 combined saposin deficiency semapv:UnspecifiedMatching +MONDO:0012720 skos:exactMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:UnspecifiedMatching +MONDO:0012721 skos:exactMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:UnspecifiedMatching +MONDO:0012722 skos:exactMatch OMIM:611733 dauwerse-peters syndrome semapv:UnspecifiedMatching +MONDO:0012723 skos:exactMatch OMIM:611755 leber congenital amaurosis 10 semapv:UnspecifiedMatching +MONDO:0012724 skos:exactMatch OMIM:611762 familial cold autoinflammatory syndrome 2 semapv:UnspecifiedMatching +MONDO:0012725 skos:exactMatch OMIM:611771 lipoprotein glomerulopathy semapv:UnspecifiedMatching +MONDO:0012726 skos:exactMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:UnspecifiedMatching +MONDO:0012727 skos:exactMatch OMIM:611775 kawasaki disease semapv:UnspecifiedMatching +MONDO:0012728 skos:exactMatch OMIM:611777 brugada syndrome 2 semapv:UnspecifiedMatching +MONDO:0012729 skos:exactMatch OMIM:611783 erythrocytosis, familial, 4 semapv:UnspecifiedMatching +MONDO:0012730 skos:exactMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:UnspecifiedMatching +MONDO:0012731 skos:exactMatch OMIM:611804 elliptocytosis 1 semapv:UnspecifiedMatching +MONDO:0012732 skos:exactMatch OMIM:611808 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus semapv:UnspecifiedMatching +MONDO:0012733 skos:exactMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012734 skos:exactMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:UnspecifiedMatching +MONDO:0012735 skos:exactMatch OMIM:611816 temple-baraitser syndrome semapv:UnspecifiedMatching +MONDO:0012736 skos:exactMatch OMIM:611818 long qt syndrome 9 semapv:UnspecifiedMatching +MONDO:0012737 skos:exactMatch OMIM:611819 long qt syndrome 10 semapv:UnspecifiedMatching +MONDO:0012738 skos:exactMatch OMIM:611820 long qt syndrome 11 semapv:UnspecifiedMatching +MONDO:0012739 skos:exactMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:UnspecifiedMatching +MONDO:0012740 skos:exactMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:UnspecifiedMatching +MONDO:0012741 skos:exactMatch OMIM:611868 prostate cancer, hereditary, 12 semapv:UnspecifiedMatching +MONDO:0012742 skos:exactMatch OMIM:611875 brugada syndrome 3 semapv:UnspecifiedMatching +MONDO:0012743 skos:exactMatch OMIM:611876 brugada syndrome 4 semapv:UnspecifiedMatching +MONDO:0012744 skos:exactMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:UnspecifiedMatching +MONDO:0012745 skos:exactMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:UnspecifiedMatching +MONDO:0012746 skos:exactMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:UnspecifiedMatching +MONDO:0012747 skos:exactMatch OMIM:611881 glycogen storage disease 12 semapv:UnspecifiedMatching +MONDO:0012748 skos:exactMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:UnspecifiedMatching +MONDO:0012749 skos:exactMatch OMIM:611886 mesomelic dysplasia, camera iia semapv:UnspecifiedMatching +MONDO:0012750 skos:exactMatch OMIM:611890 congenital arthrogryposis with anterior horn cell disease semapv:UnspecifiedMatching +MONDO:0012751 skos:exactMatch OMIM:611891 aortic aneurysm, familial abdominal, 3 semapv:UnspecifiedMatching +MONDO:0012752 skos:exactMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:UnspecifiedMatching +MONDO:0012753 skos:exactMatch OMIM:611895 amyotrophic lateral sclerosis 9 semapv:UnspecifiedMatching +MONDO:0012754 skos:exactMatch OMIM:611897 nanophthalmos 3 semapv:UnspecifiedMatching +MONDO:0012755 skos:exactMatch OMIM:611907 episodic ataxia, iia 7 semapv:UnspecifiedMatching +MONDO:0012756 skos:exactMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:UnspecifiedMatching +MONDO:0012757 skos:exactMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:UnspecifiedMatching +MONDO:0012758 skos:exactMatch OMIM:611928 prostate cancer, hereditary, 13 semapv:UnspecifiedMatching +MONDO:0012759 skos:exactMatch OMIM:611929 camptodactyly syndrome, guadalajara, iia 3 semapv:UnspecifiedMatching +MONDO:0012760 skos:exactMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012761 skos:exactMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:UnspecifiedMatching +MONDO:0012762 skos:exactMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:UnspecifiedMatching +MONDO:0012763 skos:exactMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012764 skos:exactMatch OMIM:611943 riddle syndrome semapv:UnspecifiedMatching +MONDO:0012765 skos:exactMatch OMIM:611944 lymphatic malformation 2 semapv:UnspecifiedMatching +MONDO:0012766 skos:exactMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012767 skos:exactMatch OMIM:611953 macular degeneration, age-related, 11 semapv:UnspecifiedMatching +MONDO:0012768 skos:exactMatch OMIM:611955 prostate cancer, hereditary, 11 semapv:UnspecifiedMatching +MONDO:0012769 skos:exactMatch OMIM:611958 prostate cancer, hereditary, 14 semapv:UnspecifiedMatching +MONDO:0012770 skos:exactMatch OMIM:611959 prostate cancer, hereditary, 15 semapv:UnspecifiedMatching +MONDO:0012771 skos:exactMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012772 skos:exactMatch OMIM:611961 stevenson-carey syndrome semapv:UnspecifiedMatching +MONDO:0012773 skos:exactMatch OMIM:611962 hunter-macdonald syndrome semapv:UnspecifiedMatching +MONDO:0012774 skos:exactMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012775 skos:exactMatch OMIM:612004 thrombocytopenia 4 semapv:UnspecifiedMatching +MONDO:0012776 skos:exactMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012777 skos:exactMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012778 skos:exactMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012779 skos:exactMatch OMIM:612008 celiac disease, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012780 skos:exactMatch OMIM:612009 celiac disease, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0012781 skos:exactMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0012782 skos:exactMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0012783 skos:exactMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:UnspecifiedMatching +MONDO:0012784 skos:exactMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:UnspecifiedMatching +MONDO:0012785 skos:exactMatch OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 semapv:UnspecifiedMatching +MONDO:0012786 skos:exactMatch OMIM:612018 cataract 47 semapv:UnspecifiedMatching +MONDO:0012787 skos:exactMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012788 skos:exactMatch OMIM:612030 coronary heart disease, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012789 skos:exactMatch OMIM:612067 dystonia 16 semapv:UnspecifiedMatching +MONDO:0012790 skos:exactMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0012791 skos:exactMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:UnspecifiedMatching +MONDO:0012792 skos:exactMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:UnspecifiedMatching +MONDO:0012793 skos:exactMatch OMIM:612076 hypouricemia, renal, 2 semapv:UnspecifiedMatching +MONDO:0012794 skos:exactMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:UnspecifiedMatching +MONDO:0012795 skos:exactMatch OMIM:612089 hypophosphatemic rickets and hyperparathyroidism semapv:UnspecifiedMatching +MONDO:0012796 skos:exactMatch OMIM:612095 retinitis pigmentosa 41 semapv:UnspecifiedMatching +MONDO:0012797 skos:exactMatch OMIM:612096 otosclerosis 8 semapv:UnspecifiedMatching +MONDO:0012798 skos:exactMatch OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops semapv:UnspecifiedMatching +MONDO:0012799 skos:exactMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:UnspecifiedMatching +MONDO:0012800 skos:exactMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:UnspecifiedMatching +MONDO:0012801 skos:exactMatch OMIM:612100 autism, susceptibility to, 15 semapv:UnspecifiedMatching +MONDO:0012802 skos:exactMatch OMIM:612109 oculoauricular syndrome semapv:UnspecifiedMatching +MONDO:0012803 skos:exactMatch OMIM:612119 trehalase deficiency semapv:UnspecifiedMatching +MONDO:0012804 skos:exactMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:UnspecifiedMatching +MONDO:0012805 skos:exactMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:UnspecifiedMatching +MONDO:0012806 skos:exactMatch OMIM:612132 ectodermal dysplasia and immunodeficiency 2 semapv:UnspecifiedMatching +MONDO:0012807 skos:exactMatch OMIM:612138 epidermolysis bullosa simplex 5c, with pyloric atresia semapv:UnspecifiedMatching +MONDO:0012808 skos:exactMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:UnspecifiedMatching +MONDO:0012809 skos:exactMatch OMIM:612160 histiocytoma, angiomatoid fibrous semapv:UnspecifiedMatching +MONDO:0012810 skos:exactMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:UnspecifiedMatching +MONDO:0012811 skos:exactMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:UnspecifiedMatching +MONDO:0012812 skos:exactMatch OMIM:612164 developmental and epileptic encephalopathy 4 semapv:UnspecifiedMatching +MONDO:0012813 skos:exactMatch OMIM:612165 retinitis pigmentosa 29 semapv:UnspecifiedMatching +MONDO:0012814 skos:exactMatch OMIM:612198 diastasis recti and weakness of the linea alba semapv:UnspecifiedMatching +MONDO:0012815 skos:exactMatch omim.ps:612199 Cerebroretinal microangiopathy with calcfications and cysts semapv:UnspecifiedMatching +MONDO:0012816 skos:exactMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:UnspecifiedMatching +MONDO:0012817 skos:exactMatch OMIM:612219 ewing sarcoma semapv:UnspecifiedMatching +MONDO:0012818 skos:exactMatch OMIM:612225 maturity-onset diabetes of the young, iia 9 semapv:UnspecifiedMatching +MONDO:0012820 skos:exactMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012821 skos:exactMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012822 skos:exactMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012823 skos:exactMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012824 skos:exactMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:UnspecifiedMatching +MONDO:0012825 skos:exactMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:UnspecifiedMatching +MONDO:0012826 skos:exactMatch OMIM:612238 scoliosis, isolated, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012827 skos:exactMatch OMIM:612239 scoliosis, isolated, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012828 skos:exactMatch OMIM:612240 atrial fibrillation, familial, 7 semapv:UnspecifiedMatching +MONDO:0012829 skos:exactMatch OMIM:612241 inflammatory bowel disease 12 semapv:UnspecifiedMatching +MONDO:0012830 skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012831 skos:exactMatch OMIM:612244 inflammatory bowel disease 13 semapv:UnspecifiedMatching +MONDO:0012832 skos:exactMatch OMIM:612245 inflammatory bowel disease 14 semapv:UnspecifiedMatching +MONDO:0012833 skos:exactMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:UnspecifiedMatching +MONDO:0012834 skos:exactMatch OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012835 skos:exactMatch OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0012836 skos:exactMatch OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0012837 skos:exactMatch OMIM:612255 inflammatory bowel disease 15 semapv:UnspecifiedMatching +MONDO:0012838 skos:exactMatch OMIM:612259 inflammatory bowel disease 16 semapv:UnspecifiedMatching +MONDO:0012839 skos:exactMatch OMIM:612260 immunodeficiency 68 semapv:UnspecifiedMatching +MONDO:0012840 skos:exactMatch OMIM:612261 inflammatory bowel disease 17 semapv:UnspecifiedMatching +MONDO:0012841 skos:exactMatch OMIM:612262 inflammatory bowel disease 18 semapv:UnspecifiedMatching +MONDO:0012842 skos:exactMatch OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012843 skos:exactMatch OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012844 skos:exactMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:UnspecifiedMatching +MONDO:0012845 skos:exactMatch OMIM:612278 inflammatory bowel disease (crohn disease) 19 semapv:UnspecifiedMatching +MONDO:0012846 skos:exactMatch OMIM:612279 generalized epilepsy with febrile seizures plus, iia 6 semapv:UnspecifiedMatching +MONDO:0012847 skos:exactMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0012848 skos:exactMatch OMIM:612284 meckel syndrome, iia 6 semapv:UnspecifiedMatching +MONDO:0012849 skos:exactMatch OMIM:612285 joubert syndrome 9 semapv:UnspecifiedMatching +MONDO:0012850 skos:exactMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:UnspecifiedMatching +MONDO:0012851 skos:exactMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:UnspecifiedMatching +MONDO:0012852 skos:exactMatch OMIM:612288 inflammatory bowel disease 20 semapv:UnspecifiedMatching +MONDO:0012853 skos:exactMatch OMIM:612289 fontaine progeroid syndrome semapv:UnspecifiedMatching +MONDO:0012854 skos:exactMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:UnspecifiedMatching +MONDO:0012855 skos:exactMatch OMIM:612291 joubert syndrome 8 semapv:UnspecifiedMatching +MONDO:0012856 skos:exactMatch OMIM:612292 birk-barel syndrome semapv:UnspecifiedMatching +MONDO:0012857 skos:exactMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic iia semapv:UnspecifiedMatching +MONDO:0012858 skos:exactMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:UnspecifiedMatching +MONDO:0012859 skos:exactMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0012860 skos:exactMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012861 skos:exactMatch OMIM:612310 premature ovarian failure 6 semapv:UnspecifiedMatching +MONDO:0012862 skos:exactMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012863 skos:exactMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012864 skos:exactMatch OMIM:612313 glass syndrome semapv:UnspecifiedMatching +MONDO:0012865 skos:exactMatch OMIM:612318 pseudofolliculitis barbae semapv:UnspecifiedMatching +MONDO:0012866 skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:UnspecifiedMatching +MONDO:0012867 skos:exactMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012868 skos:exactMatch OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012869 skos:exactMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:UnspecifiedMatching +MONDO:0012870 skos:exactMatch OMIM:612345 chromosome 2q31.2 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012871 skos:exactMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:UnspecifiedMatching +MONDO:0012872 skos:exactMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:UnspecifiedMatching +MONDO:0012873 skos:exactMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:UnspecifiedMatching +MONDO:0012874 skos:exactMatch OMIM:612353 porokeratosis 6, multiple types semapv:UnspecifiedMatching +MONDO:0012875 skos:exactMatch OMIM:612354 inflammatory bowel disease 21 semapv:UnspecifiedMatching +MONDO:0012876 skos:exactMatch OMIM:612356 heparin cofactor 2 deficiency semapv:UnspecifiedMatching +MONDO:0012877 skos:exactMatch OMIM:612357 major affective disorder 8 semapv:UnspecifiedMatching +MONDO:0012879 skos:exactMatch OMIM:612361 schizophrenia 14 semapv:UnspecifiedMatching +MONDO:0012880 skos:exactMatch OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia semapv:UnspecifiedMatching +MONDO:0012881 skos:exactMatch OMIM:612371 major affective disorder 7 semapv:UnspecifiedMatching +MONDO:0012882 skos:exactMatch OMIM:612372 major affective disorder 9 semapv:UnspecifiedMatching +MONDO:0012883 skos:exactMatch OMIM:612376 acute promyelocytic leukemia semapv:UnspecifiedMatching +MONDO:0012884 skos:exactMatch OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0012885 skos:exactMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:UnspecifiedMatching +MONDO:0012886 skos:exactMatch OMIM:612380 inflammatory bowel disease 22 semapv:UnspecifiedMatching +MONDO:0012887 skos:exactMatch OMIM:612381 inflammatory bowel disease 23 semapv:UnspecifiedMatching +MONDO:0012888 skos:exactMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012889 skos:exactMatch OMIM:612388 sarcoidosis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012890 skos:exactMatch OMIM:612389 pontocerebellar hypoplasia, iia 2b semapv:UnspecifiedMatching +MONDO:0012891 skos:exactMatch OMIM:612390 pontocerebellar hypoplasia, iia 2c semapv:UnspecifiedMatching +MONDO:0012892 skos:exactMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:UnspecifiedMatching +MONDO:0012893 skos:exactMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:UnspecifiedMatching +MONDO:0012894 skos:exactMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:UnspecifiedMatching +MONDO:0012895 skos:exactMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012896 skos:exactMatch OMIM:612410 psoriasis 10, susceptibility to semapv:UnspecifiedMatching +MONDO:0012897 skos:exactMatch OMIM:612416 factor 11 deficiency semapv:UnspecifiedMatching +MONDO:0012898 skos:exactMatch OMIM:612417 narcolepsy 4, susceptibility to semapv:UnspecifiedMatching +MONDO:0012899 skos:exactMatch OMIM:612421 alopecia, androgenetic, 3 semapv:UnspecifiedMatching +MONDO:0012900 skos:exactMatch OMIM:612422 cardiomyopathy, familial restrictive, 3 semapv:UnspecifiedMatching +MONDO:0012901 skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:UnspecifiedMatching +MONDO:0012902 skos:exactMatch OMIM:612431 deafness, autosomal dominant 27 semapv:UnspecifiedMatching +MONDO:0012903 skos:exactMatch OMIM:612433 deafness, autosomal recessive 45 semapv:UnspecifiedMatching +MONDO:0012904 skos:exactMatch OMIM:612437 epilepsy, progressive myoclonic, 1b semapv:UnspecifiedMatching +MONDO:0012905 skos:exactMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:UnspecifiedMatching +MONDO:0012906 skos:exactMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:UnspecifiedMatching +MONDO:0012907 skos:exactMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:UnspecifiedMatching +MONDO:0012908 skos:exactMatch OMIM:612446 complement component 6 deficiency semapv:UnspecifiedMatching +MONDO:0012909 skos:exactMatch OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0012910 skos:exactMatch OMIM:612448 age-related hearing impairment 1 semapv:UnspecifiedMatching +MONDO:0012911 skos:exactMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:UnspecifiedMatching +MONDO:0012912 skos:exactMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:UnspecifiedMatching +MONDO:0012913 skos:exactMatch OMIM:612469 wagro syndrome semapv:UnspecifiedMatching +MONDO:0012914 skos:exactMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:UnspecifiedMatching +MONDO:0012915 skos:exactMatch OMIM:612475 chromosome 1q21.1 duplication syndrome semapv:UnspecifiedMatching +MONDO:0012916 skos:exactMatch OMIM:612513 chromosome 2p16.1-p15 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012917 skos:exactMatch OMIM:612514 specific language impairment 4 semapv:UnspecifiedMatching +MONDO:0012918 skos:exactMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:UnspecifiedMatching +MONDO:0012919 skos:exactMatch OMIM:612520 iia 1 diabetes mellitus 20 semapv:UnspecifiedMatching +MONDO:0012920 skos:exactMatch OMIM:612521 iia 1 diabetes mellitus 21 semapv:UnspecifiedMatching +MONDO:0012921 skos:exactMatch OMIM:612522 iia 1 diabetes mellitus 22 semapv:UnspecifiedMatching +MONDO:0012922 skos:exactMatch OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 semapv:UnspecifiedMatching +MONDO:0012923 skos:exactMatch OMIM:612526 lipodystrophy, congenital generalized, iia 3 semapv:UnspecifiedMatching +MONDO:0012924 skos:exactMatch OMIM:612527 diamond-blackfan anemia 4 semapv:UnspecifiedMatching +MONDO:0012925 skos:exactMatch OMIM:612528 diamond-blackfan anemia 5 semapv:UnspecifiedMatching +MONDO:0012926 skos:exactMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:UnspecifiedMatching +MONDO:0012927 skos:exactMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012928 skos:exactMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012929 skos:exactMatch OMIM:612540 congenital myopathy 12 semapv:UnspecifiedMatching +MONDO:0012930 skos:exactMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012931 skos:exactMatch OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to semapv:UnspecifiedMatching +MONDO:0012932 skos:exactMatch OMIM:612554 myopia 16, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012933 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012934 skos:exactMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012935 skos:exactMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012936 skos:exactMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012937 skos:exactMatch OMIM:612561 diamond-blackfan anemia 6 semapv:UnspecifiedMatching +MONDO:0012938 skos:exactMatch OMIM:612562 diamond-blackfan anemia 7 semapv:UnspecifiedMatching +MONDO:0012939 skos:exactMatch OMIM:612563 diamond-blackfan anemia 8 semapv:UnspecifiedMatching +MONDO:0012940 skos:exactMatch OMIM:612566 inflammatory bowel disease 24 semapv:UnspecifiedMatching +MONDO:0012941 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012942 skos:exactMatch OMIM:612571 lung cancer susceptibility 3 semapv:UnspecifiedMatching +MONDO:0012943 skos:exactMatch OMIM:612572 retinitis pigmentosa 46 semapv:UnspecifiedMatching +MONDO:0012944 skos:exactMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:UnspecifiedMatching +MONDO:0012945 skos:exactMatch OMIM:612577 amyotrophic lateral sclerosis 11 semapv:UnspecifiedMatching +MONDO:0012946 skos:exactMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0012947 skos:exactMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:UnspecifiedMatching +MONDO:0012948 skos:exactMatch OMIM:612582 chromosome 6pter-p24 deletion syndrome semapv:UnspecifiedMatching +MONDO:0012949 skos:exactMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:UnspecifiedMatching +MONDO:0012950 skos:exactMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:UnspecifiedMatching +MONDO:0012951 skos:exactMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0012952 skos:exactMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0012953 skos:exactMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0012954 skos:exactMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0012955 skos:exactMatch OMIM:612593 lung cancer susceptibility 4 semapv:UnspecifiedMatching +MONDO:0012956 skos:exactMatch OMIM:612594 multiple sclerosis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012957 skos:exactMatch OMIM:612595 multiple sclerosis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012958 skos:exactMatch OMIM:612596 multiple sclerosis, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012959 skos:exactMatch OMIM:612599 psoriasis 11, susceptibility to semapv:UnspecifiedMatching +MONDO:0012960 skos:exactMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:UnspecifiedMatching +MONDO:0012961 skos:exactMatch OMIM:612622 iia 1 diabetes mellitus 23 semapv:UnspecifiedMatching +MONDO:0012962 skos:exactMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0012963 skos:exactMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0012964 skos:exactMatch OMIM:612626 chromosome 15q26-qter deletion syndrome semapv:UnspecifiedMatching +MONDO:0012965 skos:exactMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:UnspecifiedMatching +MONDO:0012966 skos:exactMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0012967 skos:exactMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0012968 skos:exactMatch OMIM:612632 usher syndrome, iia 1h semapv:UnspecifiedMatching +MONDO:0012969 skos:exactMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0012970 skos:exactMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0012971 skos:exactMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0012972 skos:exactMatch OMIM:612637 febrile seizures, familial, 10 semapv:UnspecifiedMatching +MONDO:0012973 skos:exactMatch OMIM:612639 inflammatory bowel disease 26 semapv:UnspecifiedMatching +MONDO:0012974 skos:exactMatch OMIM:612642 deafness, autosomal dominant 59 semapv:UnspecifiedMatching +MONDO:0012975 skos:exactMatch OMIM:612643 deafness, autosomal dominant 3b semapv:UnspecifiedMatching +MONDO:0012976 skos:exactMatch OMIM:612644 deafness, autosomal dominant 2b semapv:UnspecifiedMatching +MONDO:0012977 skos:exactMatch OMIM:612645 deafness, autosomal recessive 1b semapv:UnspecifiedMatching +MONDO:0012978 skos:exactMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:UnspecifiedMatching +MONDO:0012979 skos:exactMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:UnspecifiedMatching +MONDO:0012980 skos:exactMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:UnspecifiedMatching +MONDO:0012981 skos:exactMatch OMIM:612653 spherocytosis, iia 4 semapv:UnspecifiedMatching +MONDO:0012982 skos:exactMatch OMIM:612656 episodic ataxia, iia 6 semapv:UnspecifiedMatching +MONDO:0012983 skos:exactMatch OMIM:612657 cone-rod dystrophy 12 semapv:UnspecifiedMatching +MONDO:0012984 skos:exactMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:UnspecifiedMatching +MONDO:0012985 skos:exactMatch OMIM:612690 spherocytosis, iia 5 semapv:UnspecifiedMatching +MONDO:0012986 skos:exactMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:UnspecifiedMatching +MONDO:0012987 skos:exactMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012988 skos:exactMatch OMIM:612702 hypogonadotropic hypogonadism 6 with or without anosmia semapv:UnspecifiedMatching +MONDO:0012989 skos:exactMatch OMIM:612703 microcephaly 7, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0012990 skos:exactMatch OMIM:612712 leber congenital amaurosis 13 semapv:UnspecifiedMatching +MONDO:0012991 skos:exactMatch OMIM:612713 kahrizi syndrome semapv:UnspecifiedMatching +MONDO:0012992 skos:exactMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:UnspecifiedMatching +MONDO:0012993 skos:exactMatch OMIM:612715 dyschromatosis universalis hereditaria 2 semapv:UnspecifiedMatching +MONDO:0012994 skos:exactMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:UnspecifiedMatching +MONDO:0012995 skos:exactMatch OMIM:612717 myopia 15, autosomal dominant semapv:UnspecifiedMatching +MONDO:0012996 skos:exactMatch OMIM:612718 cerebral creatine deficiency syndrome 3 semapv:UnspecifiedMatching +MONDO:0012997 skos:exactMatch OMIM:301068 hardikar syndrome semapv:UnspecifiedMatching +MONDO:0012998 skos:exactMatch OMIM:612731 faciocardiomelic syndrome semapv:UnspecifiedMatching +MONDO:0012999 skos:exactMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:UnspecifiedMatching +MONDO:0013000 skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:UnspecifiedMatching +MONDO:0013001 skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching +MONDO:0013002 skos:exactMatch OMIM:612775 cone-rod dystrophy 9 semapv:UnspecifiedMatching +MONDO:0013003 skos:exactMatch OMIM:612776 hypoglossia with situs inversus semapv:UnspecifiedMatching +MONDO:0013004 skos:exactMatch OMIM:612777 hypotonia, seizures, and precocious puberty semapv:UnspecifiedMatching +MONDO:0013005 skos:exactMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:UnspecifiedMatching +MONDO:0013006 skos:exactMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:UnspecifiedMatching +MONDO:0013007 skos:exactMatch OMIM:612782 immunodeficiency 9 semapv:UnspecifiedMatching +MONDO:0013008 skos:exactMatch OMIM:612783 immunodeficiency 10 semapv:UnspecifiedMatching +MONDO:0013009 skos:exactMatch OMIM:612785 megarbane-jalkh syndrome semapv:UnspecifiedMatching +MONDO:0013010 skos:exactMatch OMIM:612789 deafness, autosomal recessive 71 semapv:UnspecifiedMatching +MONDO:0013011 skos:exactMatch OMIM:612794 atrial septal defect 5 semapv:UnspecifiedMatching +MONDO:0013012 skos:exactMatch OMIM:612796 inflammatory bowel disease 27 semapv:UnspecifiedMatching +MONDO:0013013 skos:exactMatch OMIM:612798 question mark ears, isolated semapv:UnspecifiedMatching +MONDO:0013014 skos:exactMatch OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan iia semapv:UnspecifiedMatching +MONDO:0013015 skos:exactMatch OMIM:612838 brugada syndrome 5 semapv:UnspecifiedMatching +MONDO:0013016 skos:exactMatch OMIM:612840 leukocyte adhesion deficiency, iia 3 semapv:UnspecifiedMatching +MONDO:0013017 skos:exactMatch OMIM:612841 hypotrichosis 5 semapv:UnspecifiedMatching +MONDO:0013018 skos:exactMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013020 skos:exactMatch OMIM:612851 narcolepsy 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0013021 skos:exactMatch OMIM:612852 chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis semapv:UnspecifiedMatching +MONDO:0013022 skos:exactMatch OMIM:612853 restless legs syndrome, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0013023 skos:exactMatch OMIM:612858 orofacial cleft 12 semapv:UnspecifiedMatching +MONDO:0013024 skos:exactMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0013025 skos:exactMatch OMIM:612863 chromosome 6q24-q25 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013026 skos:exactMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:UnspecifiedMatching +MONDO:0013027 skos:exactMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:UnspecifiedMatching +MONDO:0013029 skos:exactMatch OMIM:612876 spinocerebellar ataxia 9 semapv:UnspecifiedMatching +MONDO:0013030 skos:exactMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:UnspecifiedMatching +MONDO:0013031 skos:exactMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:UnspecifiedMatching +MONDO:0013032 skos:exactMatch OMIM:612899 epilepsy, idiopathic generalized, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0013033 skos:exactMatch OMIM:612900 cerebral palsy, spastic quadriplegic, 2 semapv:UnspecifiedMatching +MONDO:0013034 skos:exactMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:UnspecifiedMatching +MONDO:0013035 skos:exactMatch OMIM:612913 orofaciodigital syndrome 11 semapv:UnspecifiedMatching +MONDO:0013036 skos:exactMatch OMIM:612916 zechi-ceide syndrome semapv:UnspecifiedMatching +MONDO:0013037 skos:exactMatch OMIM:612917 giacheti syndrome semapv:UnspecifiedMatching +MONDO:0013038 skos:exactMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:UnspecifiedMatching +MONDO:0013039 skos:exactMatch OMIM:612921 three m syndrome 2 semapv:UnspecifiedMatching +MONDO:0013040 skos:exactMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013041 skos:exactMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013042 skos:exactMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013043 skos:exactMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013044 skos:exactMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013045 skos:exactMatch OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013046 skos:exactMatch OMIM:612932 glycogen storage disease 13 semapv:UnspecifiedMatching +MONDO:0013047 skos:exactMatch OMIM:612933 glycogen storage disease 11 semapv:UnspecifiedMatching +MONDO:0013048 skos:exactMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013049 skos:exactMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:UnspecifiedMatching +MONDO:0013050 skos:exactMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0013051 skos:exactMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:UnspecifiedMatching +MONDO:0013052 skos:exactMatch OMIM:612943 retinitis pigmentosa 42 semapv:UnspecifiedMatching +MONDO:0013053 skos:exactMatch OMIM:612946 hadziselimovic syndrome semapv:UnspecifiedMatching +MONDO:0013054 skos:exactMatch OMIM:612947 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance semapv:UnspecifiedMatching +MONDO:0013055 skos:exactMatch OMIM:612948 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features semapv:UnspecifiedMatching +MONDO:0013056 skos:exactMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:UnspecifiedMatching +MONDO:0013057 skos:exactMatch OMIM:612950 psoriasis 12, susceptibility to semapv:UnspecifiedMatching +MONDO:0013058 skos:exactMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:UnspecifiedMatching +MONDO:0013059 skos:exactMatch OMIM:612952 aicardi-goutieres syndrome 5 semapv:UnspecifiedMatching +MONDO:0013060 skos:exactMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013061 skos:exactMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:UnspecifiedMatching +MONDO:0013062 skos:exactMatch OMIM:612955 long qt syndrome 12 semapv:UnspecifiedMatching +MONDO:0013063 skos:exactMatch OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 semapv:UnspecifiedMatching +MONDO:0013064 skos:exactMatch OMIM:612961 multiple synostoses syndrome 3 semapv:UnspecifiedMatching +MONDO:0013065 skos:exactMatch OMIM:612964 premature ovarian failure 7 semapv:UnspecifiedMatching +MONDO:0013066 skos:exactMatch OMIM:612965 46,xy sex reversal 3 semapv:UnspecifiedMatching +MONDO:0013067 skos:exactMatch OMIM:612968 cataract 34, multiple types semapv:UnspecifiedMatching +MONDO:0013068 skos:exactMatch OMIM:612976 age-related hearing impairment 2 semapv:UnspecifiedMatching +MONDO:0013069 skos:exactMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:UnspecifiedMatching +MONDO:0013070 skos:exactMatch OMIM:612997 spermatogenic failure 7 semapv:UnspecifiedMatching +MONDO:0013071 skos:exactMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013072 skos:exactMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013073 skos:exactMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:UnspecifiedMatching +MONDO:0013074 skos:exactMatch OMIM:613001 encephalocraniocutaneous lipomatosis semapv:UnspecifiedMatching +MONDO:0013076 skos:exactMatch OMIM:613003 attention deficit-hyperactivity disorder, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0013077 skos:exactMatch OMIM:613005 santos syndrome semapv:UnspecifiedMatching +MONDO:0013078 skos:exactMatch OMIM:613006 iia 1 diabetes mellitus 24 semapv:UnspecifiedMatching +MONDO:0013079 skos:exactMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:UnspecifiedMatching +MONDO:0013080 skos:exactMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:UnspecifiedMatching +MONDO:0013081 skos:exactMatch OMIM:613011 lymphoproliferative syndrome 1 semapv:UnspecifiedMatching +MONDO:0013083 skos:exactMatch OMIM:613014 neuroblastoma, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013084 skos:exactMatch OMIM:613015 neuroblastoma, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013085 skos:exactMatch OMIM:613016 neuroblastoma, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013086 skos:exactMatch OMIM:613017 neuroblastoma, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013087 skos:exactMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:UnspecifiedMatching +MONDO:0013088 skos:exactMatch OMIM:613024 follicular lymphoma, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0013089 skos:exactMatch OMIM:613025 schizophrenia 13 semapv:UnspecifiedMatching +MONDO:0013091 skos:exactMatch OMIM:613027 glycogen storage disease ixc semapv:UnspecifiedMatching +MONDO:0013092 skos:exactMatch OMIM:613028 glioma susceptibility 2 semapv:UnspecifiedMatching +MONDO:0013093 skos:exactMatch OMIM:613029 glioma susceptibility 3 semapv:UnspecifiedMatching +MONDO:0013094 skos:exactMatch OMIM:613030 glioma susceptibility 5 semapv:UnspecifiedMatching +MONDO:0013095 skos:exactMatch OMIM:613031 glioma susceptibility 6 semapv:UnspecifiedMatching +MONDO:0013096 skos:exactMatch OMIM:613032 glioma susceptibility 7 semapv:UnspecifiedMatching +MONDO:0013097 skos:exactMatch OMIM:613033 glioma susceptibility 8 semapv:UnspecifiedMatching +MONDO:0013099 skos:exactMatch omim.ps:613038 Pituitary hormone deficiency, combined semapv:UnspecifiedMatching +MONDO:0013100 skos:exactMatch OMIM:613055 atrial fibrillation, familial, 8 semapv:UnspecifiedMatching +MONDO:0013101 skos:exactMatch OMIM:613058 basal cell carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013102 skos:exactMatch OMIM:613059 basal cell carcinoma, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013103 skos:exactMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0013104 skos:exactMatch OMIM:613061 basal cell carcinoma, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013105 skos:exactMatch OMIM:613062 basal cell carcinoma, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013106 skos:exactMatch OMIM:613063 basal cell carcinoma, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013107 skos:exactMatch OMIM:613064 dermatitis, atopic, 7 semapv:UnspecifiedMatching +MONDO:0013108 skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:UnspecifiedMatching +MONDO:0013109 skos:exactMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013110 skos:exactMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:UnspecifiedMatching +MONDO:0013111 skos:exactMatch OMIM:613070 liver failure, infantile, transient semapv:UnspecifiedMatching +MONDO:0013112 skos:exactMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:UnspecifiedMatching +MONDO:0013113 skos:exactMatch OMIM:613073 metaphyseal anadysplasia 2 semapv:UnspecifiedMatching +MONDO:0013114 skos:exactMatch OMIM:613074 deafness, autosomal dominant 50 semapv:UnspecifiedMatching +MONDO:0013115 skos:exactMatch OMIM:613075 macs syndrome semapv:UnspecifiedMatching +MONDO:0013116 skos:exactMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:UnspecifiedMatching +MONDO:0013117 skos:exactMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:UnspecifiedMatching +MONDO:0013118 skos:exactMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:UnspecifiedMatching +MONDO:0013119 skos:exactMatch OMIM:613079 deafness, autosomal recessive 77 semapv:UnspecifiedMatching +MONDO:0013120 skos:exactMatch OMIM:613080 46,xy sex reversal 5 semapv:UnspecifiedMatching +MONDO:0013121 skos:exactMatch OMIM:613085 glaucoma 3, primary congenital, c semapv:UnspecifiedMatching +MONDO:0013122 skos:exactMatch OMIM:613086 glaucoma 3, primary congenital, d semapv:UnspecifiedMatching +MONDO:0013123 skos:exactMatch OMIM:613087 atrial septal defect 6 semapv:UnspecifiedMatching +MONDO:0013124 skos:exactMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013125 skos:exactMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:UnspecifiedMatching +MONDO:0013127 skos:exactMatch OMIM:613091 short-rib thoracic dysplasia 3 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0013128 skos:exactMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:UnspecifiedMatching +MONDO:0013129 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:UnspecifiedMatching +MONDO:0013130 skos:exactMatch OMIM:613094 microphthalmia, isolated 4 semapv:UnspecifiedMatching +MONDO:0013131 skos:exactMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:UnspecifiedMatching +MONDO:0013132 skos:exactMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013133 skos:exactMatch OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013134 skos:exactMatch OMIM:613100 glaucoma 1, open angle, o semapv:UnspecifiedMatching +MONDO:0013135 skos:exactMatch OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease semapv:UnspecifiedMatching +MONDO:0013136 skos:exactMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:UnspecifiedMatching +MONDO:0013137 skos:exactMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:UnspecifiedMatching +MONDO:0013138 skos:exactMatch OMIM:613106 vertigo, benign recurrent, 2 semapv:UnspecifiedMatching +MONDO:0013139 skos:exactMatch OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013140 skos:exactMatch OMIM:613108 candidiasis, familial, 4 semapv:UnspecifiedMatching +MONDO:0013142 skos:exactMatch OMIM:613115 neuropathy, hereditary sensory and autonomic, iia 2b semapv:UnspecifiedMatching +MONDO:0013143 skos:exactMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:UnspecifiedMatching +MONDO:0013144 skos:exactMatch OMIM:613118 antithrombin 3 deficiency semapv:UnspecifiedMatching +MONDO:0013145 skos:exactMatch OMIM:613119 brugada syndrome 6 semapv:UnspecifiedMatching +MONDO:0013146 skos:exactMatch OMIM:613120 brugada syndrome 7 semapv:UnspecifiedMatching +MONDO:0013147 skos:exactMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:UnspecifiedMatching +MONDO:0013148 skos:exactMatch OMIM:613123 brugada syndrome 8 semapv:UnspecifiedMatching +MONDO:0013149 skos:exactMatch OMIM:613124 hydrops fetalis, nonimmune, with gracile bones and dysmorphism semapv:UnspecifiedMatching +MONDO:0013150 skos:exactMatch omim.ps:613135 Parkinsonism-dystonia, infantile semapv:UnspecifiedMatching +MONDO:0013151 skos:exactMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:UnspecifiedMatching +MONDO:0013152 skos:exactMatch OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 semapv:UnspecifiedMatching +MONDO:0013153 skos:exactMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013154 skos:exactMatch OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 semapv:UnspecifiedMatching +MONDO:0013155 skos:exactMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:UnspecifiedMatching +MONDO:0013156 skos:exactMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:UnspecifiedMatching +MONDO:0013157 skos:exactMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:UnspecifiedMatching +MONDO:0013158 skos:exactMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:UnspecifiedMatching +MONDO:0013159 skos:exactMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:UnspecifiedMatching +MONDO:0013160 skos:exactMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:UnspecifiedMatching +MONDO:0013161 skos:exactMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 semapv:UnspecifiedMatching +MONDO:0013162 skos:exactMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 semapv:UnspecifiedMatching +MONDO:0013163 skos:exactMatch OMIM:613159 nephronophthisis-like nephropathy 1 semapv:UnspecifiedMatching +MONDO:0013164 skos:exactMatch OMIM:613161 beta-ureidopropionase deficiency semapv:UnspecifiedMatching +MONDO:0013165 skos:exactMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013166 skos:exactMatch OMIM:613163 gaba-transaminase deficiency semapv:UnspecifiedMatching +MONDO:0013167 skos:exactMatch OMIM:613164 parkinson disease 16 semapv:UnspecifiedMatching +MONDO:0013168 skos:exactMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:UnspecifiedMatching +MONDO:0013169 skos:exactMatch OMIM:613174 chromosome 5p13 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013170 skos:exactMatch OMIM:613177 cutis laxa, autosomal recessive, iia 1c semapv:UnspecifiedMatching +MONDO:0013171 skos:exactMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching +MONDO:0013173 skos:exactMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:UnspecifiedMatching +MONDO:0013174 skos:exactMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:UnspecifiedMatching +MONDO:0013175 skos:exactMatch OMIM:613194 retinitis pigmentosa 50 semapv:UnspecifiedMatching +MONDO:0013176 skos:exactMatch OMIM:613195 weill-marchesani syndrome 4 semapv:UnspecifiedMatching +MONDO:0013177 skos:exactMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:UnspecifiedMatching +MONDO:0013178 skos:exactMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:UnspecifiedMatching +MONDO:0013179 skos:exactMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013180 skos:exactMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0013181 skos:exactMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:UnspecifiedMatching +MONDO:0013182 skos:exactMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:UnspecifiedMatching +MONDO:0013183 skos:exactMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:UnspecifiedMatching +MONDO:0013184 skos:exactMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:UnspecifiedMatching +MONDO:0013185 skos:exactMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013186 skos:exactMatch OMIM:613224 noonan syndrome 6 semapv:UnspecifiedMatching +MONDO:0013187 skos:exactMatch OMIM:613225 factor xiii, a subunit, deficiency of semapv:UnspecifiedMatching +MONDO:0013188 skos:exactMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:UnspecifiedMatching +MONDO:0013189 skos:exactMatch OMIM:613229 trichotillomania semapv:UnspecifiedMatching +MONDO:0013190 skos:exactMatch OMIM:613235 factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching +MONDO:0013191 skos:exactMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:UnspecifiedMatching +MONDO:0013192 skos:exactMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013193 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013194 skos:exactMatch OMIM:613241 pseudopili annulati semapv:UnspecifiedMatching +MONDO:0013195 skos:exactMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:UnspecifiedMatching +MONDO:0013196 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching +MONDO:0013197 skos:exactMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:UnspecifiedMatching +MONDO:0013198 skos:exactMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:UnspecifiedMatching +MONDO:0013199 skos:exactMatch OMIM:613254 tuberous sclerosis 2 semapv:UnspecifiedMatching +MONDO:0013200 skos:exactMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:UnspecifiedMatching +MONDO:0013201 skos:exactMatch OMIM:613265 waardenburg syndrome, iia 4b semapv:UnspecifiedMatching +MONDO:0013202 skos:exactMatch OMIM:613266 waardenburg syndrome, iia 4c semapv:UnspecifiedMatching +MONDO:0013203 skos:exactMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:UnspecifiedMatching +MONDO:0013204 skos:exactMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:UnspecifiedMatching +MONDO:0013205 skos:exactMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:UnspecifiedMatching +MONDO:0013206 skos:exactMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:UnspecifiedMatching +MONDO:0013207 skos:exactMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:UnspecifiedMatching +MONDO:0013208 skos:exactMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:UnspecifiedMatching +MONDO:0013210 skos:exactMatch OMIM:613285 deafness, autosomal recessive 25 semapv:UnspecifiedMatching +MONDO:0013211 skos:exactMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:UnspecifiedMatching +MONDO:0013212 skos:exactMatch OMIM:613287 charcot-marie-tooth disease, axonal, iia 2n semapv:UnspecifiedMatching +MONDO:0013213 skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching +MONDO:0013214 skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching +MONDO:0013215 skos:exactMatch OMIM:613307 deafness, autosomal recessive 79 semapv:UnspecifiedMatching +MONDO:0013216 skos:exactMatch OMIM:613308 diamond-blackfan anemia 9 semapv:UnspecifiedMatching +MONDO:0013217 skos:exactMatch OMIM:613309 diamond-blackfan anemia 10 semapv:UnspecifiedMatching +MONDO:0013218 skos:exactMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:UnspecifiedMatching +MONDO:0013219 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching +MONDO:0013220 skos:exactMatch OMIM:613313 hemochromatosis, iia 2b semapv:UnspecifiedMatching +MONDO:0013221 skos:exactMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:UnspecifiedMatching +MONDO:0013222 skos:exactMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:UnspecifiedMatching +MONDO:0013223 skos:exactMatch OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki iia semapv:UnspecifiedMatching +MONDO:0013224 skos:exactMatch OMIM:613325 rhabdoid tumor predisposition syndrome 2 semapv:UnspecifiedMatching +MONDO:0013225 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching +MONDO:0013226 skos:exactMatch OMIM:613328 roifman-chitayat syndrome semapv:UnspecifiedMatching +MONDO:0013227 skos:exactMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:UnspecifiedMatching +MONDO:0013228 skos:exactMatch OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0013229 skos:exactMatch omim.ps:613339 Hot water epilepsy semapv:UnspecifiedMatching +MONDO:0013230 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:UnspecifiedMatching +MONDO:0013231 skos:exactMatch OMIM:613341 leber congenital amaurosis 14 semapv:UnspecifiedMatching +MONDO:0013232 skos:exactMatch OMIM:613342 mseleni joint disease semapv:UnspecifiedMatching +MONDO:0013233 skos:exactMatch OMIM:613343 handigodu joint disease semapv:UnspecifiedMatching +MONDO:0013234 skos:exactMatch OMIM:613345 hypokalemic periodic paralysis, iia 2 semapv:UnspecifiedMatching +MONDO:0013235 skos:exactMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013236 skos:exactMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013237 skos:exactMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:UnspecifiedMatching +MONDO:0013238 skos:exactMatch OMIM:613355 chromosome 17q23.1-q23.2 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013239 skos:exactMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013240 skos:exactMatch OMIM:613370 maturity-onset diabetes of the young, iia 10 semapv:UnspecifiedMatching +MONDO:0013241 skos:exactMatch OMIM:613371 spinocerebellar ataxia 30 semapv:UnspecifiedMatching +MONDO:0013242 skos:exactMatch OMIM:613375 maturity-onset diabetes of the young, iia 11 semapv:UnspecifiedMatching +MONDO:0013243 skos:exactMatch OMIM:613376 neuronopathy, distal hereditary motor, autosomal dominant 4 semapv:UnspecifiedMatching +MONDO:0013244 skos:exactMatch OMIM:613382 brachydactyly, iia e2 semapv:UnspecifiedMatching +MONDO:0013245 skos:exactMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:UnspecifiedMatching +MONDO:0013246 skos:exactMatch OMIM:613387 fatty liver disease, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013247 skos:exactMatch OMIM:613388 fanconi renotubular syndrome 2 semapv:UnspecifiedMatching +MONDO:0013248 skos:exactMatch OMIM:613390 fanconi anemia, complementation group o semapv:UnspecifiedMatching +MONDO:0013249 skos:exactMatch OMIM:613391 deafness, autosomal recessive 84a semapv:UnspecifiedMatching +MONDO:0013250 skos:exactMatch OMIM:613392 deafness, autosomal recessive 85 semapv:UnspecifiedMatching +MONDO:0013251 skos:exactMatch OMIM:613393 birbeck granule deficiency semapv:UnspecifiedMatching +MONDO:0013252 skos:exactMatch OMIM:613398 warsaw breakage syndrome semapv:UnspecifiedMatching +MONDO:0013253 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013254 skos:exactMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:UnspecifiedMatching +MONDO:0013255 skos:exactMatch OMIM:613404 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:UnspecifiedMatching +MONDO:0013256 skos:exactMatch OMIM:613406 witteveen-kolk syndrome semapv:UnspecifiedMatching +MONDO:0013257 skos:exactMatch OMIM:613407 leprosy, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013258 skos:exactMatch OMIM:613410 autism, susceptibility to, 16 semapv:UnspecifiedMatching +MONDO:0013259 skos:exactMatch OMIM:613411 oguchi disease 2 semapv:UnspecifiedMatching +MONDO:0013260 skos:exactMatch OMIM:613412 esophagitis, eosinophilic, 2 semapv:UnspecifiedMatching +MONDO:0013261 skos:exactMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:UnspecifiedMatching +MONDO:0013262 skos:exactMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:UnspecifiedMatching +MONDO:0013263 skos:exactMatch OMIM:613428 retinitis pigmentosa 54 semapv:UnspecifiedMatching +MONDO:0013264 skos:exactMatch OMIM:613435 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0013265 skos:exactMatch OMIM:613436 autism, susceptibility to, 17 semapv:UnspecifiedMatching +MONDO:0013266 skos:exactMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:UnspecifiedMatching +MONDO:0013267 skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:UnspecifiedMatching +MONDO:0013268 skos:exactMatch OMIM:613451 frontonasal dysplasia 2 semapv:UnspecifiedMatching +MONDO:0013269 skos:exactMatch OMIM:613453 deafness, autosomal recessive 91 semapv:UnspecifiedMatching +MONDO:0013270 skos:exactMatch OMIM:613454 rett syndrome, congenital variant semapv:UnspecifiedMatching +MONDO:0013271 skos:exactMatch OMIM:613456 frontonasal dysplasia 3 semapv:UnspecifiedMatching +MONDO:0013272 skos:exactMatch OMIM:613457 chromosome 14q11-q22 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013273 skos:exactMatch OMIM:613458 chromosome 16p13.3 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013274 skos:exactMatch OMIM:613464 retinitis pigmentosa 51 semapv:UnspecifiedMatching +MONDO:0013275 skos:exactMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:UnspecifiedMatching +MONDO:0013276 skos:exactMatch OMIM:613471 reynolds syndrome semapv:UnspecifiedMatching +MONDO:0013277 skos:exactMatch OMIM:613477 developmental and epileptic encephalopathy 5 semapv:UnspecifiedMatching +MONDO:0013278 skos:exactMatch OMIM:613480 lymphatic malformation 3 semapv:UnspecifiedMatching +MONDO:0013279 skos:exactMatch OMIM:613485 long qt syndrome 13 semapv:UnspecifiedMatching +MONDO:0013280 skos:exactMatch OMIM:613488 myxoid liposarcoma semapv:UnspecifiedMatching +MONDO:0013281 skos:exactMatch OMIM:613489 congenital disorder of glycosylation, iia iij semapv:UnspecifiedMatching +MONDO:0013282 skos:exactMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching +MONDO:0013283 skos:exactMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:UnspecifiedMatching +MONDO:0013284 skos:exactMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:UnspecifiedMatching +MONDO:0013285 skos:exactMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:UnspecifiedMatching +MONDO:0013286 skos:exactMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:UnspecifiedMatching +MONDO:0013287 skos:exactMatch OMIM:613500 agammaglobulinemia 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013288 skos:exactMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013289 skos:exactMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013290 skos:exactMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013291 skos:exactMatch OMIM:613507 glycogen storage disease 15 semapv:UnspecifiedMatching +MONDO:0013292 skos:exactMatch OMIM:613509 chromosome 4q21 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013293 skos:exactMatch OMIM:613517 microphthalmia, isolated 6 semapv:UnspecifiedMatching +MONDO:0013294 skos:exactMatch OMIM:613518 dermatitis, atopic, 8 semapv:UnspecifiedMatching +MONDO:0013295 skos:exactMatch OMIM:613519 dermatitis, atopic, 9 semapv:UnspecifiedMatching +MONDO:0013296 skos:exactMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:UnspecifiedMatching +MONDO:0013297 skos:exactMatch OMIM:613530 muscular dystrophy, limb-girdle, iia 1h semapv:UnspecifiedMatching +MONDO:0013298 skos:exactMatch OMIM:613533 chromosome 17q21.31 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013299 skos:exactMatch OMIM:613544 chromosome 6q11-q14 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013300 skos:exactMatch OMIM:613545 macrostomia, isolated semapv:UnspecifiedMatching +MONDO:0013301 skos:exactMatch OMIM:613546 aromatase deficiency semapv:UnspecifiedMatching +MONDO:0013302 skos:exactMatch OMIM:613550 nephronophthisis 11 semapv:UnspecifiedMatching +MONDO:0013303 skos:exactMatch OMIM:613551 autoimmune disease, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013304 skos:exactMatch OMIM:613554 von willebrand disease, iia 2 semapv:UnspecifiedMatching +MONDO:0013305 skos:exactMatch OMIM:613558 deafness, autosomal dominant 51 semapv:UnspecifiedMatching +MONDO:0013306 skos:exactMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:UnspecifiedMatching +MONDO:0013307 skos:exactMatch OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 semapv:UnspecifiedMatching +MONDO:0013308 skos:exactMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:UnspecifiedMatching +MONDO:0013309 skos:exactMatch OMIM:613564 chromosome 2p12-p11.2 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013310 skos:exactMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:UnspecifiedMatching +MONDO:0013311 skos:exactMatch omim.ps:613573 Ectodermal dysplasia-syndactyly syndrome semapv:UnspecifiedMatching +MONDO:0013312 skos:exactMatch OMIM:613575 retinitis pigmentosa 55 semapv:UnspecifiedMatching +MONDO:0013313 skos:exactMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:UnspecifiedMatching +MONDO:0013314 skos:exactMatch OMIM:613581 retinitis pigmentosa 56 semapv:UnspecifiedMatching +MONDO:0013315 skos:exactMatch OMIM:613582 retinitis pigmentosa 57 semapv:UnspecifiedMatching +MONDO:0013316 skos:exactMatch OMIM:613587 occult macular dystrophy semapv:UnspecifiedMatching +MONDO:0013317 skos:exactMatch OMIM:613600 torsade lange pointes, short-coupled variant semapv:UnspecifiedMatching +MONDO:0013318 skos:exactMatch OMIM:613601 early repolarization associated with ventricular fibrillation semapv:UnspecifiedMatching +MONDO:0013319 skos:exactMatch OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome semapv:UnspecifiedMatching +MONDO:0013320 skos:exactMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:UnspecifiedMatching +MONDO:0013321 skos:exactMatch OMIM:613606 forsythe-wakeling syndrome semapv:UnspecifiedMatching +MONDO:0013322 skos:exactMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:UnspecifiedMatching +MONDO:0013323 skos:exactMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:UnspecifiedMatching +MONDO:0013324 skos:exactMatch OMIM:613611 choanal atresia and lymphedema semapv:UnspecifiedMatching +MONDO:0013325 skos:exactMatch OMIM:613612 congenital disorder of glycosylation, iia iii semapv:UnspecifiedMatching +MONDO:0013326 skos:exactMatch OMIM:613615 senior-loken syndrome 7 semapv:UnspecifiedMatching +MONDO:0013327 skos:exactMatch OMIM:613616 hyperoxaluria, primary, iia 3 semapv:UnspecifiedMatching +MONDO:0013328 skos:exactMatch OMIM:613617 retinitis pigmentosa 58 semapv:UnspecifiedMatching +MONDO:0013329 skos:exactMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013330 skos:exactMatch OMIM:613623 agenesis of the corpus callosum and congenital lymphedema semapv:UnspecifiedMatching +MONDO:0013331 skos:exactMatch OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 semapv:UnspecifiedMatching +MONDO:0013332 skos:exactMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:UnspecifiedMatching +MONDO:0013333 skos:exactMatch OMIM:613628 odontoid hypoplasia semapv:UnspecifiedMatching +MONDO:0013334 skos:exactMatch OMIM:613630 fetal encasement syndrome semapv:UnspecifiedMatching +MONDO:0013335 skos:exactMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:UnspecifiedMatching +MONDO:0013336 skos:exactMatch OMIM:613638 chromosome 19p13.13 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013337 skos:exactMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:UnspecifiedMatching +MONDO:0013338 skos:exactMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:UnspecifiedMatching +MONDO:0013339 skos:exactMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:UnspecifiedMatching +MONDO:0013340 skos:exactMatch OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0013341 skos:exactMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:UnspecifiedMatching +MONDO:0013342 skos:exactMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013343 skos:exactMatch omim.ps:613652 C1q deficiency semapv:UnspecifiedMatching +MONDO:0013344 skos:exactMatch OMIM:613656 migraine with aura, susceptibility to, 13 semapv:UnspecifiedMatching +MONDO:0013345 skos:exactMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:UnspecifiedMatching +MONDO:0013348 skos:exactMatch OMIM:613660 cone-rod dystrophy 15 semapv:UnspecifiedMatching +MONDO:0013349 skos:exactMatch OMIM:613661 congenital disorder of glycosylation, iia ip semapv:UnspecifiedMatching +MONDO:0013350 skos:exactMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:UnspecifiedMatching +MONDO:0013351 skos:exactMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:UnspecifiedMatching +MONDO:0013352 skos:exactMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:UnspecifiedMatching +MONDO:0013353 skos:exactMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:UnspecifiedMatching +MONDO:0013354 skos:exactMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013355 skos:exactMatch OMIM:613673 anemia, congenital dyserythropoietic, iia 4 semapv:UnspecifiedMatching +MONDO:0013356 skos:exactMatch OMIM:613674 vesicoureteral reflux 3 semapv:UnspecifiedMatching +MONDO:0013357 skos:exactMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:UnspecifiedMatching +MONDO:0013358 skos:exactMatch OMIM:613676 seckel syndrome 4 semapv:UnspecifiedMatching +MONDO:0013359 skos:exactMatch OMIM:613677 hyperaldosteronism, familial, iia 3 semapv:UnspecifiedMatching +MONDO:0013360 skos:exactMatch OMIM:613678 brachyolmia iia 2 semapv:UnspecifiedMatching +MONDO:0013361 skos:exactMatch OMIM:613679 prothrombin deficiency, congenital semapv:UnspecifiedMatching +MONDO:0013362 skos:exactMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:UnspecifiedMatching +MONDO:0013363 skos:exactMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013364 skos:exactMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:UnspecifiedMatching +MONDO:0013365 skos:exactMatch OMIM:613685 deafness, autosomal recessive 83 semapv:UnspecifiedMatching +MONDO:0013366 skos:exactMatch OMIM:613686 spondylocostal dysostosis 4, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013367 skos:exactMatch OMIM:613688 long qt syndrome 2 semapv:UnspecifiedMatching +MONDO:0013368 skos:exactMatch OMIM:613689 mammary-digital-nail syndrome semapv:UnspecifiedMatching +MONDO:0013369 skos:exactMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:UnspecifiedMatching +MONDO:0013370 skos:exactMatch OMIM:613693 long qt syndrome 6 semapv:UnspecifiedMatching +MONDO:0013371 skos:exactMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:UnspecifiedMatching +MONDO:0013372 skos:exactMatch OMIM:613695 long qt syndrome 5 semapv:UnspecifiedMatching +MONDO:0013373 skos:exactMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:UnspecifiedMatching +MONDO:0013374 skos:exactMatch OMIM:613700 supernumerary der(22)t(8 semapv:UnspecifiedMatching +MONDO:0013375 skos:exactMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013376 skos:exactMatch OMIM:613703 microphthalmia, isolated, with coloboma 6 semapv:UnspecifiedMatching +MONDO:0013377 skos:exactMatch OMIM:613704 microphthalmia, isolated 7 semapv:UnspecifiedMatching +MONDO:0013378 skos:exactMatch OMIM:613705 orofacial cleft 10 semapv:UnspecifiedMatching +MONDO:0013379 skos:exactMatch OMIM:613706 noonan syndrome 7 semapv:UnspecifiedMatching +MONDO:0013380 skos:exactMatch OMIM:613707 leopard syndrome 3 semapv:UnspecifiedMatching +MONDO:0013381 skos:exactMatch OMIM:613708 neuropathy, hereditary sensory, iia 1d semapv:UnspecifiedMatching +MONDO:0013382 skos:exactMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:UnspecifiedMatching +MONDO:0013383 skos:exactMatch OMIM:613711 hirschsprung disease, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013384 skos:exactMatch OMIM:613712 hirschsprung disease, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013385 skos:exactMatch OMIM:613717 treacher collins syndrome 2 semapv:UnspecifiedMatching +MONDO:0013386 skos:exactMatch OMIM:613718 deafness, autosomal recessive 74 semapv:UnspecifiedMatching +MONDO:0013387 skos:exactMatch OMIM:613720 developmental and epileptic encephalopathy 7 semapv:UnspecifiedMatching +MONDO:0013388 skos:exactMatch OMIM:613721 developmental and epileptic encephalopathy 11 semapv:UnspecifiedMatching +MONDO:0013389 skos:exactMatch OMIM:613722 developmental and epileptic encephalopathy 12 semapv:UnspecifiedMatching +MONDO:0013390 skos:exactMatch OMIM:613723 muscular dystrophy, limb-girdle, autosomal recessive 17 semapv:UnspecifiedMatching +MONDO:0013391 skos:exactMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:UnspecifiedMatching +MONDO:0013392 skos:exactMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:UnspecifiedMatching +MONDO:0013393 skos:exactMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:UnspecifiedMatching +MONDO:0013394 skos:exactMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:UnspecifiedMatching +MONDO:0013395 skos:exactMatch OMIM:613731 retinitis pigmentosa 4 semapv:UnspecifiedMatching +MONDO:0013397 skos:exactMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:UnspecifiedMatching +MONDO:0013398 skos:exactMatch OMIM:613737 acne inversa, familial, 3 semapv:UnspecifiedMatching +MONDO:0013400 skos:exactMatch OMIM:613743 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete semapv:UnspecifiedMatching +MONDO:0013401 skos:exactMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013402 skos:exactMatch OMIM:613750 retinitis pigmentosa 27 semapv:UnspecifiedMatching +MONDO:0013403 skos:exactMatch OMIM:613751 heterotaxy, visceral, 4, autosomal semapv:UnspecifiedMatching +MONDO:0013404 skos:exactMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:UnspecifiedMatching +MONDO:0013405 skos:exactMatch OMIM:613756 retinitis pigmentosa 49 semapv:UnspecifiedMatching +MONDO:0013406 skos:exactMatch OMIM:613757 macular degeneration, age-related, 6 semapv:UnspecifiedMatching +MONDO:0013407 skos:exactMatch OMIM:613758 retinitis pigmentosa 47 semapv:UnspecifiedMatching +MONDO:0013408 skos:exactMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:UnspecifiedMatching +MONDO:0013409 skos:exactMatch OMIM:613761 macular degeneration, age-related, 5 semapv:UnspecifiedMatching +MONDO:0013410 skos:exactMatch OMIM:613762 46,xy sex reversal 6 semapv:UnspecifiedMatching +MONDO:0013411 skos:exactMatch OMIM:613763 cataract 16, multiple types semapv:UnspecifiedMatching +MONDO:0013412 skos:exactMatch OMIM:613765 cardiomyopathy, familial hypertrophic, 9 semapv:UnspecifiedMatching +MONDO:0013413 skos:exactMatch OMIM:613767 retinitis pigmentosa 45 semapv:UnspecifiedMatching +MONDO:0013414 skos:exactMatch OMIM:613769 retinitis pigmentosa 44 semapv:UnspecifiedMatching +MONDO:0013415 skos:exactMatch OMIM:613776 chromosome 17p13.1 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013416 skos:exactMatch OMIM:613778 macular degeneration, age-related, 8 semapv:UnspecifiedMatching +MONDO:0013417 skos:exactMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013418 skos:exactMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:UnspecifiedMatching +MONDO:0013419 skos:exactMatch OMIM:613783 complement component c1s deficiency semapv:UnspecifiedMatching +MONDO:0013420 skos:exactMatch OMIM:613784 macular degeneration, age-related, 12 semapv:UnspecifiedMatching +MONDO:0013421 skos:exactMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:UnspecifiedMatching +MONDO:0013422 skos:exactMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:UnspecifiedMatching +MONDO:0013423 skos:exactMatch OMIM:613791 masp2 deficiency semapv:UnspecifiedMatching +MONDO:0013424 skos:exactMatch OMIM:613792 chromosome 3pter-p25 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013425 skos:exactMatch OMIM:613794 retinitis pigmentosa 20 semapv:UnspecifiedMatching +MONDO:0013426 skos:exactMatch OMIM:613795 loeys-dietz syndrome 3 semapv:UnspecifiedMatching +MONDO:0013427 skos:exactMatch OMIM:613796 immunodeficiency 31b semapv:UnspecifiedMatching +MONDO:0013428 skos:exactMatch OMIM:613800 meier-gorlin syndrome 2 semapv:UnspecifiedMatching +MONDO:0013429 skos:exactMatch OMIM:613801 retinitis pigmentosa 40 semapv:UnspecifiedMatching +MONDO:0013430 skos:exactMatch OMIM:613803 meier-gorlin syndrome 3 semapv:UnspecifiedMatching +MONDO:0013431 skos:exactMatch OMIM:613804 meier-gorlin syndrome 4 semapv:UnspecifiedMatching +MONDO:0013432 skos:exactMatch OMIM:613805 meier-gorlin syndrome 5 semapv:UnspecifiedMatching +MONDO:0013433 skos:exactMatch OMIM:613806 cholangitis, primary sclerosing semapv:UnspecifiedMatching +MONDO:0013434 skos:exactMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:UnspecifiedMatching +MONDO:0013435 skos:exactMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:UnspecifiedMatching +MONDO:0013436 skos:exactMatch OMIM:613809 retinitis pigmentosa 39 semapv:UnspecifiedMatching +MONDO:0013437 skos:exactMatch OMIM:613810 retinitis pigmentosa 43 semapv:UnspecifiedMatching +MONDO:0013438 skos:exactMatch OMIM:613811 pontocerebellar hypoplasia, iia 2d semapv:UnspecifiedMatching +MONDO:0013439 skos:exactMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:UnspecifiedMatching +MONDO:0013440 skos:exactMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 semapv:UnspecifiedMatching +MONDO:0013441 skos:exactMatch OMIM:613819 short-rib thoracic dysplasia 4 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0013442 skos:exactMatch OMIM:613820 nephronophthisis 12 semapv:UnspecifiedMatching +MONDO:0013443 skos:exactMatch OMIM:613823 seckel syndrome 5 semapv:UnspecifiedMatching +MONDO:0013444 skos:exactMatch OMIM:613824 nephronophthisis 9 semapv:UnspecifiedMatching +MONDO:0013445 skos:exactMatch OMIM:613825 complement component 9 deficiency semapv:UnspecifiedMatching +MONDO:0013446 skos:exactMatch OMIM:613826 leber congenital amaurosis 6 semapv:UnspecifiedMatching +MONDO:0013447 skos:exactMatch OMIM:613827 retinitis pigmentosa 48 semapv:UnspecifiedMatching +MONDO:0013448 skos:exactMatch OMIM:613828 generalized epilepsy with febrile seizures plus, iia 8 semapv:UnspecifiedMatching +MONDO:0013449 skos:exactMatch OMIM:613829 leber congenital amaurosis 7 semapv:UnspecifiedMatching +MONDO:0013450 skos:exactMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:UnspecifiedMatching +MONDO:0013452 skos:exactMatch OMIM:613834 smooth muscle dysfunction syndrome semapv:UnspecifiedMatching +MONDO:0013453 skos:exactMatch OMIM:613835 leber congenital amaurosis 8 semapv:UnspecifiedMatching +MONDO:0013454 skos:exactMatch OMIM:613837 leber congenital amaurosis 11 semapv:UnspecifiedMatching +MONDO:0013455 skos:exactMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:UnspecifiedMatching +MONDO:0013456 skos:exactMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:UnspecifiedMatching +MONDO:0013457 skos:exactMatch OMIM:613843 leber congenital amaurosis 15 semapv:UnspecifiedMatching +MONDO:0013458 skos:exactMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:UnspecifiedMatching +MONDO:0013459 skos:exactMatch OMIM:613848 osteogenesis imperfecta, iia 10 semapv:UnspecifiedMatching +MONDO:0013460 skos:exactMatch OMIM:613849 osteogenesis imperfecta, iia 12 semapv:UnspecifiedMatching +MONDO:0013461 skos:exactMatch OMIM:613850 inosine triphosphatase deficiency semapv:UnspecifiedMatching +MONDO:0013462 skos:exactMatch OMIM:613852 fucosyltransferase 6 deficiency semapv:UnspecifiedMatching +MONDO:0013463 skos:exactMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:UnspecifiedMatching +MONDO:0013464 skos:exactMatch OMIM:613855 episodic ataxia, iia 5 semapv:UnspecifiedMatching +MONDO:0013465 skos:exactMatch OMIM:613856 achromatopsia 4 semapv:UnspecifiedMatching +MONDO:0013466 skos:exactMatch OMIM:613857 orofacial cleft 13 semapv:UnspecifiedMatching +MONDO:0013467 skos:exactMatch OMIM:613860 ficolin 3 deficiency semapv:UnspecifiedMatching +MONDO:0013468 skos:exactMatch OMIM:613861 retinitis pigmentosa 59 semapv:UnspecifiedMatching +MONDO:0013469 skos:exactMatch OMIM:613862 retinitis pigmentosa 38 semapv:UnspecifiedMatching +MONDO:0013470 skos:exactMatch OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 semapv:UnspecifiedMatching +MONDO:0013471 skos:exactMatch OMIM:613865 deafness, autosomal recessive 61 semapv:UnspecifiedMatching +MONDO:0013472 skos:exactMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:UnspecifiedMatching +MONDO:0013473 skos:exactMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:UnspecifiedMatching +MONDO:0013474 skos:exactMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:UnspecifiedMatching +MONDO:0013475 skos:exactMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:UnspecifiedMatching +MONDO:0013477 skos:exactMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:UnspecifiedMatching +MONDO:0013478 skos:exactMatch OMIM:613877 lipodystrophy, familial partial, iia 4 semapv:UnspecifiedMatching +MONDO:0013479 skos:exactMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:UnspecifiedMatching +MONDO:0013480 skos:exactMatch OMIM:613882 hypomagnesemia 6, renal semapv:UnspecifiedMatching +MONDO:0013481 skos:exactMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013482 skos:exactMatch OMIM:613885 meckel syndrome, iia 8 semapv:UnspecifiedMatching +MONDO:0013483 skos:exactMatch OMIM:613886 obesity, hyperphagia, and developmental delay semapv:UnspecifiedMatching +MONDO:0013484 skos:exactMatch OMIM:613887 cataract 36 semapv:UnspecifiedMatching +MONDO:0013485 skos:exactMatch OMIM:613908 spinocerebellar ataxia 35 semapv:UnspecifiedMatching +MONDO:0013486 skos:exactMatch OMIM:613909 spinocerebellar ataxia 32 semapv:UnspecifiedMatching +MONDO:0013487 skos:exactMatch OMIM:613912 complement factor d deficiency semapv:UnspecifiedMatching +MONDO:0013488 skos:exactMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:UnspecifiedMatching +MONDO:0013489 skos:exactMatch OMIM:613916 deafness, autosomal recessive 89 semapv:UnspecifiedMatching +MONDO:0013490 skos:exactMatch OMIM:613925 megalencephalic leukoencephalopathy with subcortical cysts 2a semapv:UnspecifiedMatching +MONDO:0013491 skos:exactMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:UnspecifiedMatching +MONDO:0013492 skos:exactMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:UnspecifiedMatching +MONDO:0013493 skos:exactMatch OMIM:613933 acetyl-coa carboxylase-alpha deficiency semapv:UnspecifiedMatching +MONDO:0013495 skos:exactMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0013496 skos:exactMatch OMIM:613944 iga nephropathy, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013497 skos:exactMatch OMIM:613949 okt4 epitope deficiency semapv:UnspecifiedMatching +MONDO:0013498 skos:exactMatch OMIM:613950 schizophrenia 15 semapv:UnspecifiedMatching +MONDO:0013499 skos:exactMatch OMIM:613951 fanconi anemia, complementation group p semapv:UnspecifiedMatching +MONDO:0013500 skos:exactMatch OMIM:613953 immunodeficiency 51 semapv:UnspecifiedMatching +MONDO:0013501 skos:exactMatch OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:UnspecifiedMatching +MONDO:0013502 skos:exactMatch OMIM:613955 amyloidosis, primary localized cutaneous, 2 semapv:UnspecifiedMatching +MONDO:0013503 skos:exactMatch OMIM:613956 candidiasis, familial, 6 semapv:UnspecifiedMatching +MONDO:0013504 skos:exactMatch OMIM:613957 spermatogenic failure 8 semapv:UnspecifiedMatching +MONDO:0013505 skos:exactMatch OMIM:613958 spermatogenic failure 9 semapv:UnspecifiedMatching +MONDO:0013506 skos:exactMatch OMIM:613959 schizophrenia 16 semapv:UnspecifiedMatching +MONDO:0013507 skos:exactMatch OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 semapv:UnspecifiedMatching +MONDO:0013508 skos:exactMatch OMIM:613969 myopia 19, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013509 skos:exactMatch OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures semapv:UnspecifiedMatching +MONDO:0013510 skos:exactMatch OMIM:613972 melanoma, cutaneous malignant, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013511 skos:exactMatch OMIM:613977 cyanosis, transient neonatal semapv:UnspecifiedMatching +MONDO:0013512 skos:exactMatch OMIM:613978 hemoglobin h disease semapv:UnspecifiedMatching +MONDO:0013513 skos:exactMatch OMIM:613980 atrial fibrillation, familial, 9 semapv:UnspecifiedMatching +MONDO:0013514 skos:exactMatch OMIM:613981 hypotrichosis 3 semapv:UnspecifiedMatching +MONDO:0013515 skos:exactMatch OMIM:613982 osteogenesis imperfecta, iia 6 semapv:UnspecifiedMatching +MONDO:0013516 skos:exactMatch OMIM:613983 retinitis pigmentosa 60 semapv:UnspecifiedMatching +MONDO:0013517 skos:exactMatch OMIM:613985 beta-thalassemia semapv:UnspecifiedMatching +MONDO:0013518 skos:exactMatch OMIM:613986 pituitary hormone deficiency, combined, 6 semapv:UnspecifiedMatching +MONDO:0013519 skos:exactMatch OMIM:613987 dyskeratosis congenita, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0013520 skos:exactMatch OMIM:613988 dyskeratosis congenita, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0013521 skos:exactMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0013522 skos:exactMatch OMIM:613990 dyskeratosis congenita, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0013523 skos:exactMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:UnspecifiedMatching +MONDO:0013525 skos:exactMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:UnspecifiedMatching +MONDO:0013526 skos:exactMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:UnspecifiedMatching +MONDO:0013527 skos:exactMatch OMIM:614019 lissencephaly 4 semapv:UnspecifiedMatching +MONDO:0013528 skos:exactMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:UnspecifiedMatching +MONDO:0013529 skos:exactMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:UnspecifiedMatching +MONDO:0013530 skos:exactMatch OMIM:614022 atrial fibrillation, familial, 10 semapv:UnspecifiedMatching +MONDO:0013531 skos:exactMatch OMIM:614023 phosphoserine phosphatase deficiency semapv:UnspecifiedMatching +MONDO:0013532 skos:exactMatch OMIM:614024 protein z deficiency semapv:UnspecifiedMatching +MONDO:0013533 skos:exactMatch OMIM:614025 hepatic lipase deficiency semapv:UnspecifiedMatching +MONDO:0013534 skos:exactMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:UnspecifiedMatching +MONDO:0013535 skos:exactMatch OMIM:614033 hydroxyacyl glutathione hydrolase deficiency semapv:UnspecifiedMatching +MONDO:0013536 skos:exactMatch OMIM:614034 heme oxygenase 1 deficiency semapv:UnspecifiedMatching +MONDO:0013537 skos:exactMatch OMIM:614035 deafness, autosomal recessive 29 semapv:UnspecifiedMatching +MONDO:0013538 skos:exactMatch OMIM:614036 alpha-2-macroglobulin deficiency semapv:UnspecifiedMatching +MONDO:0013539 skos:exactMatch OMIM:614037 leukotriene c4 synthase deficiency semapv:UnspecifiedMatching +MONDO:0013540 skos:exactMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:UnspecifiedMatching +MONDO:0013541 skos:exactMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:UnspecifiedMatching +MONDO:0013542 skos:exactMatch OMIM:614042 moyamoya disease 5 semapv:UnspecifiedMatching +MONDO:0013543 skos:exactMatch OMIM:614044 trypsinogen deficiency semapv:UnspecifiedMatching +MONDO:0013544 skos:exactMatch OMIM:614049 atrial fibrillation, familial, 11 semapv:UnspecifiedMatching +MONDO:0013545 skos:exactMatch OMIM:614050 atrial fibrillation, familial, 12 semapv:UnspecifiedMatching +MONDO:0013546 skos:exactMatch OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 semapv:UnspecifiedMatching +MONDO:0013547 skos:exactMatch OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 semapv:UnspecifiedMatching +MONDO:0013548 skos:exactMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:UnspecifiedMatching +MONDO:0013549 skos:exactMatch OMIM:614063 n-acetylaspartate deficiency semapv:UnspecifiedMatching +MONDO:0013550 skos:exactMatch OMIM:614065 myopathy, distal, 4 semapv:UnspecifiedMatching +MONDO:0013551 skos:exactMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013552 skos:exactMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013553 skos:exactMatch OMIM:614069 immunodeficiency-centromeric instability-facial anomalies syndrome 2 semapv:UnspecifiedMatching +MONDO:0013554 skos:exactMatch OMIM:614070 psoriasis 13, susceptibility to semapv:UnspecifiedMatching +MONDO:0013555 skos:exactMatch OMIM:614072 hermansky-pudlak syndrome 3 semapv:UnspecifiedMatching +MONDO:0013556 skos:exactMatch OMIM:614073 hermansky-pudlak syndrome 4 semapv:UnspecifiedMatching +MONDO:0013557 skos:exactMatch OMIM:614074 hermansky-pudlak syndrome 5 semapv:UnspecifiedMatching +MONDO:0013558 skos:exactMatch OMIM:614075 hermansky-pudlak syndrome 6 semapv:UnspecifiedMatching +MONDO:0013559 skos:exactMatch OMIM:614076 hermansky-pudlak syndrome 7 semapv:UnspecifiedMatching +MONDO:0013560 skos:exactMatch OMIM:614077 hermansky-pudlak syndrome 8 semapv:UnspecifiedMatching +MONDO:0013561 skos:exactMatch OMIM:614078 chondrodysplasia with joint dislocations, gpapp iia semapv:UnspecifiedMatching +MONDO:0013562 skos:exactMatch OMIM:614079 aspergillosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0013563 skos:exactMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:UnspecifiedMatching +MONDO:0013564 skos:exactMatch OMIM:614081 anhaptoglobinemia semapv:UnspecifiedMatching +MONDO:0013565 skos:exactMatch OMIM:614082 fanconi anemia, complementation group g semapv:UnspecifiedMatching +MONDO:0013566 skos:exactMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:UnspecifiedMatching +MONDO:0013567 skos:exactMatch OMIM:614089 atrial septal defect 3 semapv:UnspecifiedMatching +MONDO:0013568 skos:exactMatch OMIM:614090 sick sinus syndrome 3, susceptibility to semapv:UnspecifiedMatching +MONDO:0013569 skos:exactMatch OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0013570 skos:exactMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:UnspecifiedMatching +MONDO:0013571 skos:exactMatch OMIM:614097 acatalasemia semapv:UnspecifiedMatching +MONDO:0013572 skos:exactMatch OMIM:614098 keppen-lubinsky syndrome semapv:UnspecifiedMatching +MONDO:0013573 skos:exactMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:UnspecifiedMatching +MONDO:0013574 skos:exactMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:UnspecifiedMatching +MONDO:0013575 skos:exactMatch OMIM:614101 plasma fibronectin deficiency semapv:UnspecifiedMatching +MONDO:0013576 skos:exactMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:UnspecifiedMatching +MONDO:0013577 skos:exactMatch OMIM:614103 lipedema semapv:UnspecifiedMatching +MONDO:0013578 skos:exactMatch OMIM:614104 intellectual developmental disorder, autosomal dominant 7 semapv:UnspecifiedMatching +MONDO:0013579 skos:exactMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0013580 skos:exactMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:UnspecifiedMatching +MONDO:0013581 skos:exactMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0013582 skos:exactMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:UnspecifiedMatching +MONDO:0013583 skos:exactMatch OMIM:614115 cortical malformations, occipital semapv:UnspecifiedMatching +MONDO:0013584 skos:exactMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:UnspecifiedMatching +MONDO:0013585 skos:exactMatch OMIM:614120 hydrolethalus syndrome 2 semapv:UnspecifiedMatching +MONDO:0013586 skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching +MONDO:0013587 skos:exactMatch OMIM:614128 lactate dehydrogenase B deficiency semapv:UnspecifiedMatching +MONDO:0013588 skos:exactMatch OMIM:614129 perrault syndrome 3 semapv:UnspecifiedMatching +MONDO:0013589 skos:exactMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:UnspecifiedMatching +MONDO:0013590 skos:exactMatch OMIM:614134 stickler syndrome, iia 4 semapv:UnspecifiedMatching +MONDO:0013591 skos:exactMatch OMIM:614135 epiphyseal dysplasia, multiple, 6 semapv:UnspecifiedMatching +MONDO:0013592 skos:exactMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:UnspecifiedMatching +MONDO:0013593 skos:exactMatch OMIM:614152 deafness, autosomal dominant 64 semapv:UnspecifiedMatching +MONDO:0013594 skos:exactMatch OMIM:614153 spinocerebellar ataxia 36 semapv:UnspecifiedMatching +MONDO:0013595 skos:exactMatch OMIM:614156 hyperbiliverdinemia semapv:UnspecifiedMatching +MONDO:0013596 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching +MONDO:0013597 skos:exactMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:UnspecifiedMatching +MONDO:0013598 skos:exactMatch OMIM:614160 muscle hypertrophy semapv:UnspecifiedMatching +MONDO:0013599 skos:exactMatch OMIM:614162 immunodeficiency 31c semapv:UnspecifiedMatching +MONDO:0013601 skos:exactMatch OMIM:614164 glutathione peroxidase deficiency semapv:UnspecifiedMatching +MONDO:0013602 skos:exactMatch OMIM:614165 pheochromocytoma/paraganglioma syndrome 5 semapv:UnspecifiedMatching +MONDO:0013603 skos:exactMatch OMIM:614166 myopia 20, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013604 skos:exactMatch OMIM:614167 myopia 21, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013605 skos:exactMatch OMIM:614170 brittle cornea syndrome 2 semapv:UnspecifiedMatching +MONDO:0013606 skos:exactMatch OMIM:614171 hermansky-pudlak syndrome 9 semapv:UnspecifiedMatching +MONDO:0013607 skos:exactMatch OMIM:614172 immunodeficiency 21 semapv:UnspecifiedMatching +MONDO:0013608 skos:exactMatch OMIM:614173 joubert syndrome 13 semapv:UnspecifiedMatching +MONDO:0013609 skos:exactMatch OMIM:614175 meckel syndrome, iia 10 semapv:UnspecifiedMatching +MONDO:0013610 skos:exactMatch OMIM:614180 retinitis pigmentosa 61 semapv:UnspecifiedMatching +MONDO:0013611 skos:exactMatch OMIM:614181 retinitis pigmentosa 62 semapv:UnspecifiedMatching +MONDO:0013612 skos:exactMatch OMIM:614185 geleophysic dysplasia 2 semapv:UnspecifiedMatching +MONDO:0013613 skos:exactMatch OMIM:614186 leber congenital amaurosis 16 semapv:UnspecifiedMatching +MONDO:0013614 skos:exactMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:UnspecifiedMatching +MONDO:0013615 skos:exactMatch OMIM:614188 craniosynostosis and dental anomalies semapv:UnspecifiedMatching +MONDO:0013616 skos:exactMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:UnspecifiedMatching +MONDO:0013617 skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching +MONDO:0013618 skos:exactMatch OMIM:614195 craniofacial anomalies and anterior segment dysgenesis syndrome semapv:UnspecifiedMatching +MONDO:0013619 skos:exactMatch OMIM:614196 nephrotic syndrome, iia 6 semapv:UnspecifiedMatching +MONDO:0013620 skos:exactMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:UnspecifiedMatching +MONDO:0013621 skos:exactMatch OMIM:614199 nephrotic syndrome, iia 5, with or without ocular abnormalities semapv:UnspecifiedMatching +MONDO:0013622 skos:exactMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:UnspecifiedMatching +MONDO:0013623 skos:exactMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:UnspecifiedMatching +MONDO:0013624 skos:exactMatch OMIM:614202 rafiq syndrome semapv:UnspecifiedMatching +MONDO:0013625 skos:exactMatch OMIM:614203 parkinson disease 17 semapv:UnspecifiedMatching +MONDO:0013626 skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:UnspecifiedMatching +MONDO:0013627 skos:exactMatch OMIM:614205 three m syndrome 3 semapv:UnspecifiedMatching +MONDO:0013628 skos:exactMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:UnspecifiedMatching +MONDO:0013629 skos:exactMatch OMIM:614208 intellectual developmental disorder, autosomal recessive 16 semapv:UnspecifiedMatching +MONDO:0013630 skos:exactMatch OMIM:614209 meckel syndrome, iia 9 semapv:UnspecifiedMatching +MONDO:0013631 skos:exactMatch OMIM:614210 lung cancer susceptibility 5 semapv:UnspecifiedMatching +MONDO:0013632 skos:exactMatch OMIM:614211 deafness, autosomal dominant 33 semapv:UnspecifiedMatching +MONDO:0013633 skos:exactMatch OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013634 skos:exactMatch OMIM:614213 neuropathy, hereditary sensory, iia 2c semapv:UnspecifiedMatching +MONDO:0013635 skos:exactMatch OMIM:614219 adams-oliver syndrome 2 semapv:UnspecifiedMatching +MONDO:0013636 skos:exactMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:UnspecifiedMatching +MONDO:0013637 skos:exactMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:UnspecifiedMatching +MONDO:0013638 skos:exactMatch OMIM:614222 warburg micro syndrome 3 semapv:UnspecifiedMatching +MONDO:0013639 skos:exactMatch OMIM:614223 narcolepsy 6, susceptibility to semapv:UnspecifiedMatching +MONDO:0013640 skos:exactMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:UnspecifiedMatching +MONDO:0013641 skos:exactMatch OMIM:614225 warburg micro syndrome 2 semapv:UnspecifiedMatching +MONDO:0013642 skos:exactMatch OMIM:614226 holoprosencephaly 11 semapv:UnspecifiedMatching +MONDO:0013643 skos:exactMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:UnspecifiedMatching +MONDO:0013644 skos:exactMatch OMIM:614228 charcot-marie-tooth disease, axonal, iia 2o semapv:UnspecifiedMatching +MONDO:0013645 skos:exactMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:UnspecifiedMatching +MONDO:0013646 skos:exactMatch OMIM:614230 chromosome 8q21.11 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013648 skos:exactMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:UnspecifiedMatching +MONDO:0013649 skos:exactMatch OMIM:614237 hypotrichosis 9 semapv:UnspecifiedMatching +MONDO:0013650 skos:exactMatch OMIM:614238 hypotrichosis 10 semapv:UnspecifiedMatching +MONDO:0013651 skos:exactMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:UnspecifiedMatching +MONDO:0013652 skos:exactMatch OMIM:614250 narcolepsy 7 semapv:UnspecifiedMatching +MONDO:0013653 skos:exactMatch OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0013654 skos:exactMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:UnspecifiedMatching +MONDO:0013655 skos:exactMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013656 skos:exactMatch OMIM:614255 nescav syndrome semapv:UnspecifiedMatching +MONDO:0013657 skos:exactMatch OMIM:614256 intellectual developmental disorder, autosomal dominant 10 semapv:UnspecifiedMatching +MONDO:0013658 skos:exactMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013659 skos:exactMatch OMIM:614261 microcephaly-capillary malformation syndrome semapv:UnspecifiedMatching +MONDO:0013660 skos:exactMatch OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy semapv:UnspecifiedMatching +MONDO:0013661 skos:exactMatch OMIM:614265 combined malonic and methylmalonic aciduria semapv:UnspecifiedMatching +MONDO:0013662 skos:exactMatch OMIM:614266 barrett esophagus semapv:UnspecifiedMatching +MONDO:0013663 skos:exactMatch OMIM:614278 platelet-activating factor acetylhydrolase deficiency semapv:UnspecifiedMatching +MONDO:0013664 skos:exactMatch OMIM:614279 46,xy sex reversal 8 semapv:UnspecifiedMatching +MONDO:0013665 skos:exactMatch OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0013666 skos:exactMatch OMIM:614284 stickler syndrome, iia 5 semapv:UnspecifiedMatching +MONDO:0013668 skos:exactMatch OMIM:614290 tetrasomy 18p semapv:UnspecifiedMatching +MONDO:0013669 skos:exactMatch OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013670 skos:exactMatch OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration semapv:UnspecifiedMatching +MONDO:0013671 skos:exactMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:UnspecifiedMatching +MONDO:0013672 skos:exactMatch OMIM:614294 chromosome 15q25 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013673 skos:exactMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013674 skos:exactMatch OMIM:614298 neurodegeneration with brain iron accumulation 4 semapv:UnspecifiedMatching +MONDO:0013675 skos:exactMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:UnspecifiedMatching +MONDO:0013677 skos:exactMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013678 skos:exactMatch OMIM:614303 edict syndrome semapv:UnspecifiedMatching +MONDO:0013679 skos:exactMatch OMIM:614305 sclerosteosis 2 semapv:UnspecifiedMatching +MONDO:0013680 skos:exactMatch OMIM:614306 cognitive impairment with or without cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0013681 skos:exactMatch OMIM:614307 alpha-methylacyl-coa racemase deficiency semapv:UnspecifiedMatching +MONDO:0013682 skos:exactMatch OMIM:614317 vesicoureteral reflux 4 semapv:UnspecifiedMatching +MONDO:0013683 skos:exactMatch OMIM:614318 vesicoureteral reflux 5 semapv:UnspecifiedMatching +MONDO:0013684 skos:exactMatch OMIM:614319 vesicoureteral reflux 6 semapv:UnspecifiedMatching +MONDO:0013685 skos:exactMatch OMIM:614320 pancreatic cancer, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0013686 skos:exactMatch OMIM:614321 myopathy, distal, tateyama iia semapv:UnspecifiedMatching +MONDO:0013687 skos:exactMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:UnspecifiedMatching +MONDO:0013688 skos:exactMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:UnspecifiedMatching +MONDO:0013689 skos:exactMatch OMIM:614324 ovarian dysgenesis 3 semapv:UnspecifiedMatching +MONDO:0013690 skos:exactMatch OMIM:614325 pitt-hopkins-like syndrome 2 semapv:UnspecifiedMatching +MONDO:0013691 skos:exactMatch OMIM:614326 feingold syndrome 2 semapv:UnspecifiedMatching +MONDO:0013692 skos:exactMatch OMIM:614327 tumor predisposition syndrome 1 semapv:UnspecifiedMatching +MONDO:0013693 skos:exactMatch OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 semapv:UnspecifiedMatching +MONDO:0013694 skos:exactMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:UnspecifiedMatching +MONDO:0013695 skos:exactMatch OMIM:614331 colorectal cancer, hereditary nonpolyposis, iia 6 semapv:UnspecifiedMatching +MONDO:0013696 skos:exactMatch OMIM:614332 chromosome 2p16.3 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013697 skos:exactMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:UnspecifiedMatching +MONDO:0013698 skos:exactMatch OMIM:614335 arthrogryposis, distal, iia 1b semapv:UnspecifiedMatching +MONDO:0013699 skos:exactMatch OMIM:614337 lynch syndrome 4 semapv:UnspecifiedMatching +MONDO:0013700 skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:UnspecifiedMatching +MONDO:0013701 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching +MONDO:0013702 skos:exactMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:UnspecifiedMatching +MONDO:0013703 skos:exactMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:UnspecifiedMatching +MONDO:0013704 skos:exactMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:UnspecifiedMatching +MONDO:0013705 skos:exactMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:UnspecifiedMatching +MONDO:0013706 skos:exactMatch OMIM:614344 intellectual developmental disorder, autosomal recessive 23 semapv:UnspecifiedMatching +MONDO:0013707 skos:exactMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:UnspecifiedMatching +MONDO:0013708 skos:exactMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:UnspecifiedMatching +MONDO:0013709 skos:exactMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:UnspecifiedMatching +MONDO:0013710 skos:exactMatch OMIM:614350 lynch syndrome 5 semapv:UnspecifiedMatching +MONDO:0013711 skos:exactMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:UnspecifiedMatching +MONDO:0013712 skos:exactMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:UnspecifiedMatching +MONDO:0013713 skos:exactMatch OMIM:614371 dengue virus, susceptibility to semapv:UnspecifiedMatching +MONDO:0013714 skos:exactMatch OMIM:614372 mannose-binding lectin deficiency semapv:UnspecifiedMatching +MONDO:0013715 skos:exactMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:UnspecifiedMatching +MONDO:0013716 skos:exactMatch OMIM:614375 aortic aneurysm, familial abdominal, 4 semapv:UnspecifiedMatching +MONDO:0013717 skos:exactMatch OMIM:614376 short-rib thoracic dysplasia 5 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0013718 skos:exactMatch OMIM:614377 nephronophthisis 13 semapv:UnspecifiedMatching +MONDO:0013719 skos:exactMatch OMIM:614378 cranioectodermal dysplasia 4 semapv:UnspecifiedMatching +MONDO:0013720 skos:exactMatch OMIM:614379 complement component 4b deficiency semapv:UnspecifiedMatching +MONDO:0013721 skos:exactMatch OMIM:614380 complement component 4a deficiency semapv:UnspecifiedMatching +MONDO:0013722 skos:exactMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0013723 skos:exactMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0013724 skos:exactMatch OMIM:614383 bacteremia, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013725 skos:exactMatch OMIM:614385 colorectal cancer, hereditary nonpolyposis, iia 7 semapv:UnspecifiedMatching +MONDO:0013726 skos:exactMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:UnspecifiedMatching +MONDO:0013727 skos:exactMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0013728 skos:exactMatch OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013729 skos:exactMatch OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013731 skos:exactMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:UnspecifiedMatching +MONDO:0013732 skos:exactMatch OMIM:614400 glucocorticoid therapy, response to semapv:UnspecifiedMatching +MONDO:0013733 skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching +MONDO:0013734 skos:exactMatch OMIM:614402 microphthalmia, syndromic 11 semapv:UnspecifiedMatching +MONDO:0013735 skos:exactMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:UnspecifiedMatching +MONDO:0013737 skos:exactMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013738 skos:exactMatch OMIM:614414 deafness, autosomal recessive 96 semapv:UnspecifiedMatching +MONDO:0013739 skos:exactMatch OMIM:614415 chilblain lupus 2 semapv:UnspecifiedMatching +MONDO:0013740 skos:exactMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:UnspecifiedMatching +MONDO:0013741 skos:exactMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:UnspecifiedMatching +MONDO:0013743 skos:exactMatch OMIM:614420 systemic lupus erythematosus 16 semapv:UnspecifiedMatching +MONDO:0013744 skos:exactMatch OMIM:614422 cataract 37 semapv:UnspecifiedMatching +MONDO:0013745 skos:exactMatch OMIM:614424 joubert syndrome 14 semapv:UnspecifiedMatching +MONDO:0013746 skos:exactMatch OMIM:614429 ventricular septal defect 1 semapv:UnspecifiedMatching +MONDO:0013747 skos:exactMatch OMIM:614430 atrioventricular septal defect 4 semapv:UnspecifiedMatching +MONDO:0013748 skos:exactMatch OMIM:614431 ventricular septal defect 2 semapv:UnspecifiedMatching +MONDO:0013749 skos:exactMatch OMIM:614432 ventricular septal defect 3 semapv:UnspecifiedMatching +MONDO:0013750 skos:exactMatch OMIM:614433 atrial septal defect 8 semapv:UnspecifiedMatching +MONDO:0013751 skos:exactMatch OMIM:614434 cutis laxa, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0013752 skos:exactMatch OMIM:614435 hypoplastic left heart syndrome 2 semapv:UnspecifiedMatching +MONDO:0013753 skos:exactMatch OMIM:614436 charcot-marie-tooth disease, axonal, iia 2p semapv:UnspecifiedMatching +MONDO:0013754 skos:exactMatch OMIM:614437 cutis laxa, autosomal recessive, iia 1b semapv:UnspecifiedMatching +MONDO:0013755 skos:exactMatch OMIM:614438 cutis laxa, autosomal recessive, iia 3b semapv:UnspecifiedMatching +MONDO:0013756 skos:exactMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:UnspecifiedMatching +MONDO:0013757 skos:exactMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:UnspecifiedMatching +MONDO:0013758 skos:exactMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:UnspecifiedMatching +MONDO:0013759 skos:exactMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0013760 skos:exactMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0013761 skos:exactMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:UnspecifiedMatching +MONDO:0013762 skos:exactMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:UnspecifiedMatching +MONDO:0013763 skos:exactMatch OMIM:614464 joubert syndrome 15 semapv:UnspecifiedMatching +MONDO:0013764 skos:exactMatch OMIM:614465 joubert syndrome 16 semapv:UnspecifiedMatching +MONDO:0013765 skos:exactMatch OMIM:614466 coronary heart disease, susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013766 skos:exactMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:UnspecifiedMatching +MONDO:0013767 skos:exactMatch OMIM:614470 ras-associated autoimmune leukoproliferative disorder semapv:UnspecifiedMatching +MONDO:0013768 skos:exactMatch OMIM:614473 arterial calcification, generalized, of infancy, 2 semapv:UnspecifiedMatching +MONDO:0013769 skos:exactMatch OMIM:614474 atrioventricular septal defect 5 semapv:UnspecifiedMatching +MONDO:0013770 skos:exactMatch OMIM:614475 atrial septal defect 9 semapv:UnspecifiedMatching +MONDO:0013771 skos:exactMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:UnspecifiedMatching +MONDO:0013772 skos:exactMatch OMIM:614482 huppke-brendel syndrome semapv:UnspecifiedMatching +MONDO:0013773 skos:exactMatch OMIM:614483 brain small vessel disease 2 semapv:UnspecifiedMatching +MONDO:0013774 skos:exactMatch OMIM:614485 trigonocephaly 2 semapv:UnspecifiedMatching +MONDO:0013775 skos:exactMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:UnspecifiedMatching +MONDO:0013776 skos:exactMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013777 skos:exactMatch OMIM:614491 pseudohypoaldosteronism, iia 2b semapv:UnspecifiedMatching +MONDO:0013778 skos:exactMatch OMIM:614492 pseudohypoaldosteronism, iia 2c semapv:UnspecifiedMatching +MONDO:0013779 skos:exactMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:UnspecifiedMatching +MONDO:0013780 skos:exactMatch OMIM:614494 retinitis pigmentosa 63 semapv:UnspecifiedMatching +MONDO:0013781 skos:exactMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:UnspecifiedMatching +MONDO:0013782 skos:exactMatch OMIM:614496 pseudohypoaldosteronism, iia 2e semapv:UnspecifiedMatching +MONDO:0013783 skos:exactMatch OMIM:614497 microphthalmia, isolated, with coloboma 7 semapv:UnspecifiedMatching +MONDO:0013784 skos:exactMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:UnspecifiedMatching +MONDO:0013785 skos:exactMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:UnspecifiedMatching +MONDO:0013786 skos:exactMatch OMIM:614500 cone-rod dystrophy 16 semapv:UnspecifiedMatching +MONDO:0013787 skos:exactMatch OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures semapv:UnspecifiedMatching +MONDO:0013788 skos:exactMatch OMIM:614504 usher syndrome, iia 3b semapv:UnspecifiedMatching +MONDO:0013789 skos:exactMatch OMIM:614507 congenital disorder of glycosylation, iia ir semapv:UnspecifiedMatching +MONDO:0013790 skos:exactMatch OMIM:614508 mirror movements 2 semapv:UnspecifiedMatching +MONDO:0013791 skos:exactMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013793 skos:exactMatch OMIM:614520 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency semapv:UnspecifiedMatching +MONDO:0013794 skos:exactMatch OMIM:614521 thrombocythemia 3 semapv:UnspecifiedMatching +MONDO:0013795 skos:exactMatch OMIM:614524 fibrochondrogenesis 2 semapv:UnspecifiedMatching +MONDO:0013796 skos:exactMatch OMIM:614526 chromosome 17q12 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013797 skos:exactMatch OMIM:614527 chromosome 17q12 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013798 skos:exactMatch OMIM:614541 chromosome 16q22 deletion syndrome semapv:UnspecifiedMatching +MONDO:0013799 skos:exactMatch OMIM:614546 efavirenz, poor metabolism of semapv:UnspecifiedMatching +MONDO:0013800 skos:exactMatch OMIM:614557 ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:UnspecifiedMatching +MONDO:0013801 skos:exactMatch OMIM:614558 developmental and epileptic encephalopathy 13 semapv:UnspecifiedMatching +MONDO:0013802 skos:exactMatch OMIM:614559 infantile cerebellar-retinal degeneration semapv:UnspecifiedMatching +MONDO:0013803 skos:exactMatch OMIM:614561 leukoencephalopathy, brain calcifications, and cysts semapv:UnspecifiedMatching +MONDO:0013805 skos:exactMatch OMIM:614563 cortical dysplasia, complex, with other brain malformations 13 semapv:UnspecifiedMatching +MONDO:0013806 skos:exactMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:UnspecifiedMatching +MONDO:0013807 skos:exactMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:UnspecifiedMatching +MONDO:0013808 skos:exactMatch OMIM:614569 multiple enchondromatosis, maffucci iia semapv:UnspecifiedMatching +MONDO:0013810 skos:exactMatch OMIM:614576 congenital disorder of glycosylation, iia iil semapv:UnspecifiedMatching +MONDO:0013811 skos:exactMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:UnspecifiedMatching +MONDO:0013812 skos:exactMatch OMIM:614583 baraitser-winter syndrome 2 semapv:UnspecifiedMatching +MONDO:0013813 skos:exactMatch OMIM:614588 dystonia 21 semapv:UnspecifiedMatching +MONDO:0013814 skos:exactMatch OMIM:614590 podoconiosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0013815 skos:exactMatch OMIM:614592 bent bone dysplasia syndrome 1 semapv:UnspecifiedMatching +MONDO:0013817 skos:exactMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:UnspecifiedMatching +MONDO:0013818 skos:exactMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:UnspecifiedMatching +MONDO:0013819 skos:exactMatch OMIM:614607 coffin-siris syndrome 2 semapv:UnspecifiedMatching +MONDO:0013820 skos:exactMatch OMIM:614608 coffin-siris syndrome 3 semapv:UnspecifiedMatching +MONDO:0013821 skos:exactMatch OMIM:614609 coffin-siris syndrome 4 semapv:UnspecifiedMatching +MONDO:0013822 skos:exactMatch OMIM:614613 acrodysostosis 2 with or without hormone resistance semapv:UnspecifiedMatching +MONDO:0013823 skos:exactMatch OMIM:614614 deafness, autosomal dominant 4b semapv:UnspecifiedMatching +MONDO:0013824 skos:exactMatch OMIM:614615 joubert syndrome 17 semapv:UnspecifiedMatching +MONDO:0013825 skos:exactMatch OMIM:614616 diarrhea 6 semapv:UnspecifiedMatching +MONDO:0013826 skos:exactMatch OMIM:614617 deafness, autosomal recessive 86 semapv:UnspecifiedMatching +MONDO:0013827 skos:exactMatch OMIM:614618 hyperekplexia 3 semapv:UnspecifiedMatching +MONDO:0013828 skos:exactMatch OMIM:614619 hyperekplexia 2 semapv:UnspecifiedMatching +MONDO:0013829 skos:exactMatch OMIM:614621 uv-sensitive syndrome 2 semapv:UnspecifiedMatching +MONDO:0013830 skos:exactMatch OMIM:614622 keratoconus 5 semapv:UnspecifiedMatching +MONDO:0013831 skos:exactMatch OMIM:614623 keratoconus 6 semapv:UnspecifiedMatching +MONDO:0013832 skos:exactMatch OMIM:614628 keratoconus 8 semapv:UnspecifiedMatching +MONDO:0013833 skos:exactMatch OMIM:614629 keratoconus 7 semapv:UnspecifiedMatching +MONDO:0013834 skos:exactMatch OMIM:614640 uv-sensitive syndrome 3 semapv:UnspecifiedMatching +MONDO:0013835 skos:exactMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 semapv:UnspecifiedMatching +MONDO:0013836 skos:exactMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:UnspecifiedMatching +MONDO:0013837 skos:exactMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:UnspecifiedMatching +MONDO:0013838 skos:exactMatch OMIM:614652 coenzyme Q10 deficiency, primary, 3 semapv:UnspecifiedMatching +MONDO:0013839 skos:exactMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, iia 6 semapv:UnspecifiedMatching +MONDO:0013840 skos:exactMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:UnspecifiedMatching +MONDO:0013841 skos:exactMatch OMIM:614655 stuttering, familial persistent, 3 semapv:UnspecifiedMatching +MONDO:0013842 skos:exactMatch OMIM:614662 cortisone reductase deficiency 2 semapv:UnspecifiedMatching +MONDO:0013843 skos:exactMatch OMIM:614665 meconium ileus semapv:UnspecifiedMatching +MONDO:0013844 skos:exactMatch OMIM:614668 stuttering, familial persistent, 4 semapv:UnspecifiedMatching +MONDO:0013845 skos:exactMatch OMIM:614669 auriculocondylar syndrome 2a semapv:UnspecifiedMatching +MONDO:0013846 skos:exactMatch OMIM:614670 peripartum cardiomyopathy, susceptibility to semapv:UnspecifiedMatching +MONDO:0013847 skos:exactMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:UnspecifiedMatching +MONDO:0013848 skos:exactMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:UnspecifiedMatching +MONDO:0013849 skos:exactMatch OMIM:614673 microcephaly 8, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013851 skos:exactMatch OMIM:614675 bone marrow failure syndrome 1 semapv:UnspecifiedMatching +MONDO:0013852 skos:exactMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:UnspecifiedMatching +MONDO:0013853 skos:exactMatch OMIM:614678 pontocerebellar hypoplasia, iia 1b semapv:UnspecifiedMatching +MONDO:0013854 skos:exactMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:UnspecifiedMatching +MONDO:0013855 skos:exactMatch OMIM:614680 influenza, severe, susceptibility to semapv:UnspecifiedMatching +MONDO:0013856 skos:exactMatch OMIM:614684 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes semapv:UnspecifiedMatching +MONDO:0013857 skos:exactMatch OMIM:614687 alar cleft, isolated semapv:UnspecifiedMatching +MONDO:0013858 skos:exactMatch OMIM:614688 pontine tegmental cap dysplasia semapv:UnspecifiedMatching +MONDO:0013859 skos:exactMatch OMIM:614691 cataract 38 semapv:UnspecifiedMatching +MONDO:0013860 skos:exactMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:UnspecifiedMatching +MONDO:0013862 skos:exactMatch OMIM:614699 immunodeficiency, common variable, 7 semapv:UnspecifiedMatching +MONDO:0013863 skos:exactMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:UnspecifiedMatching +MONDO:0013864 skos:exactMatch OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects semapv:UnspecifiedMatching +MONDO:0013865 skos:exactMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:UnspecifiedMatching +MONDO:0013866 skos:exactMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:UnspecifiedMatching +MONDO:0013867 skos:exactMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:UnspecifiedMatching +MONDO:0013868 skos:exactMatch OMIM:614714 porokeratosis 7, multiple types semapv:UnspecifiedMatching +MONDO:0013869 skos:exactMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:UnspecifiedMatching +MONDO:0013870 skos:exactMatch OMIM:614727 congenital disorder of glycosylation, iia iik semapv:UnspecifiedMatching +MONDO:0013871 skos:exactMatch OMIM:614728 seckel syndrome 6 semapv:UnspecifiedMatching +MONDO:0013872 skos:exactMatch OMIM:614731 prostate cancer, hereditary, 2 semapv:UnspecifiedMatching +MONDO:0013873 skos:exactMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:UnspecifiedMatching +MONDO:0013874 skos:exactMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:UnspecifiedMatching +MONDO:0013875 skos:exactMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:UnspecifiedMatching +MONDO:0013876 skos:exactMatch OMIM:614740 basal cell carcinoma, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0013877 skos:exactMatch OMIM:614741 mitochondrial pyruvate carrier deficiency semapv:UnspecifiedMatching +MONDO:0013878 skos:exactMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 semapv:UnspecifiedMatching +MONDO:0013879 skos:exactMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 semapv:UnspecifiedMatching +MONDO:0013880 skos:exactMatch OMIM:614744 facial paresis, hereditary congenital, 3 semapv:UnspecifiedMatching +MONDO:0013881 skos:exactMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:UnspecifiedMatching +MONDO:0013882 skos:exactMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:UnspecifiedMatching +MONDO:0013883 skos:exactMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:UnspecifiedMatching +MONDO:0013884 skos:exactMatch OMIM:614751 neuronopathy, distal hereditary motor, autosomal dominant 12 semapv:UnspecifiedMatching +MONDO:0013885 skos:exactMatch OMIM:614753 malan syndrome semapv:UnspecifiedMatching +MONDO:0013886 skos:exactMatch OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0013887 skos:exactMatch OMIM:614779 heterotaxy, visceral, 6, autosomal semapv:UnspecifiedMatching +MONDO:0013888 skos:exactMatch OMIM:614782 tremor, hereditary essential, 4 semapv:UnspecifiedMatching +MONDO:0013889 skos:exactMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:UnspecifiedMatching +MONDO:0013890 skos:exactMatch OMIM:614807 myopathy, centronuclear, 4 semapv:UnspecifiedMatching +MONDO:0013891 skos:exactMatch OMIM:614808 amyotrophic lateral sclerosis 18 semapv:UnspecifiedMatching +MONDO:0013892 skos:exactMatch OMIM:614809 c3 glomerulopathy 3 semapv:UnspecifiedMatching +MONDO:0013893 skos:exactMatch OMIM:614810 multiple sclerosis, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013894 skos:exactMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:UnspecifiedMatching +MONDO:0013895 skos:exactMatch OMIM:614814 adams-oliver syndrome 3 semapv:UnspecifiedMatching +MONDO:0013896 skos:exactMatch OMIM:614815 joubert syndrome 18 semapv:UnspecifiedMatching +MONDO:0013897 skos:exactMatch OMIM:614816 loeys-dietz syndrome 4 semapv:UnspecifiedMatching +MONDO:0013898 skos:exactMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:UnspecifiedMatching +MONDO:0013899 skos:exactMatch OMIM:614819 weill-marchesani syndrome 3 semapv:UnspecifiedMatching +MONDO:0013900 skos:exactMatch OMIM:614820 alternating hemiplegia of childhood 2 semapv:UnspecifiedMatching +MONDO:0013901 skos:exactMatch OMIM:614822 spermatogenic failure 10 semapv:UnspecifiedMatching +MONDO:0013902 skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:UnspecifiedMatching +MONDO:0013903 skos:exactMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013904 skos:exactMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 semapv:UnspecifiedMatching +MONDO:0013905 skos:exactMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:UnspecifiedMatching +MONDO:0013906 skos:exactMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:UnspecifiedMatching +MONDO:0013908 skos:exactMatch OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0013909 skos:exactMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:UnspecifiedMatching +MONDO:0013910 skos:exactMatch OMIM:614837 hypogonadotropic hypogonadism 8 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013911 skos:exactMatch OMIM:614838 hypogonadotropic hypogonadism 9 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013912 skos:exactMatch OMIM:614839 hypogonadotropic hypogonadism 10 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013913 skos:exactMatch OMIM:614840 hypogonadotropic hypogonadism 11 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013914 skos:exactMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013915 skos:exactMatch OMIM:614842 hypogonadotropic hypogonadism 13 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013916 skos:exactMatch OMIM:614844 nephronophthisis 14 semapv:UnspecifiedMatching +MONDO:0013917 skos:exactMatch OMIM:614845 nephronophthisis 15 semapv:UnspecifiedMatching +MONDO:0013918 skos:exactMatch OMIM:614846 tetrasomy 15q26 semapv:UnspecifiedMatching +MONDO:0013919 skos:exactMatch OMIM:614847 epilepsy, idiopathic generalized, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0013920 skos:exactMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0013921 skos:exactMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:UnspecifiedMatching +MONDO:0013922 skos:exactMatch OMIM:614851 seckel syndrome 7 semapv:UnspecifiedMatching +MONDO:0013923 skos:exactMatch OMIM:614852 microcephaly 9, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013924 skos:exactMatch OMIM:614856 osteogenesis imperfecta, iia 13 semapv:UnspecifiedMatching +MONDO:0013925 skos:exactMatch OMIM:614857 methylmalonic aciduria and homocystinuria, cblj iia semapv:UnspecifiedMatching +MONDO:0013926 skos:exactMatch OMIM:614858 hypogonadotropic hypogonadism 14 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013927 skos:exactMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:UnspecifiedMatching +MONDO:0013928 skos:exactMatch OMIM:614860 dystonia 23 semapv:UnspecifiedMatching +MONDO:0013929 skos:exactMatch OMIM:614861 deafness, autosomal recessive 98 semapv:UnspecifiedMatching +MONDO:0013930 skos:exactMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:UnspecifiedMatching +MONDO:0013931 skos:exactMatch OMIM:614863 peroxisome biogenesis disorder 4b semapv:UnspecifiedMatching +MONDO:0013932 skos:exactMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:UnspecifiedMatching +MONDO:0013933 skos:exactMatch OMIM:614867 peroxisome biogenesis disorder 5b semapv:UnspecifiedMatching +MONDO:0013934 skos:exactMatch OMIM:614868 immunodeficiency 110 with lymphoproliferation semapv:UnspecifiedMatching +MONDO:0013935 skos:exactMatch OMIM:614869 usher syndrome, iia 1j semapv:UnspecifiedMatching +MONDO:0013936 skos:exactMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:UnspecifiedMatching +MONDO:0013937 skos:exactMatch OMIM:614871 peroxisome biogenesis disorder 6b semapv:UnspecifiedMatching +MONDO:0013938 skos:exactMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:UnspecifiedMatching +MONDO:0013939 skos:exactMatch OMIM:614873 peroxisome biogenesis disorder 7b semapv:UnspecifiedMatching +MONDO:0013940 skos:exactMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:UnspecifiedMatching +MONDO:0013941 skos:exactMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching +MONDO:0013942 skos:exactMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:UnspecifiedMatching +MONDO:0013943 skos:exactMatch OMIM:614877 peroxisome biogenesis disorder 8b semapv:UnspecifiedMatching +MONDO:0013944 skos:exactMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:UnspecifiedMatching +MONDO:0013945 skos:exactMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:UnspecifiedMatching +MONDO:0013946 skos:exactMatch OMIM:614880 hypogonadotropic hypogonadism 15 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013947 skos:exactMatch OMIM:614881 neuronopathy, distal hereditary motor, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0013948 skos:exactMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:UnspecifiedMatching +MONDO:0013949 skos:exactMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:UnspecifiedMatching +MONDO:0013950 skos:exactMatch OMIM:614885 peroxisome biogenesis disorder 11b semapv:UnspecifiedMatching +MONDO:0013951 skos:exactMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:UnspecifiedMatching +MONDO:0013952 skos:exactMatch OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) semapv:UnspecifiedMatching +MONDO:0013953 skos:exactMatch OMIM:614889 immunodeficiency 28 semapv:UnspecifiedMatching +MONDO:0013954 skos:exactMatch OMIM:614890 immunodeficiency 29 semapv:UnspecifiedMatching +MONDO:0013955 skos:exactMatch OMIM:614891 immunodeficiency 30 semapv:UnspecifiedMatching +MONDO:0013956 skos:exactMatch OMIM:614892 immunodeficiency 31a semapv:UnspecifiedMatching +MONDO:0013957 skos:exactMatch OMIM:614893 immunodeficiency 32a semapv:UnspecifiedMatching +MONDO:0013959 skos:exactMatch OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f semapv:UnspecifiedMatching +MONDO:0013960 skos:exactMatch OMIM:614896 sinoatrial node dysfunction and deafness semapv:UnspecifiedMatching +MONDO:0013961 skos:exactMatch OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia semapv:UnspecifiedMatching +MONDO:0013962 skos:exactMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013963 skos:exactMatch OMIM:614899 deafness, autosomal recessive 93 semapv:UnspecifiedMatching +MONDO:0013964 skos:exactMatch OMIM:614900 diamond-blackfan anemia 11 semapv:UnspecifiedMatching +MONDO:0013965 skos:exactMatch OMIM:614915 lethal congenital contracture syndrome 4 semapv:UnspecifiedMatching +MONDO:0013966 skos:exactMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:UnspecifiedMatching +MONDO:0013967 skos:exactMatch OMIM:614920 peroxisome biogenesis disorder 14b semapv:UnspecifiedMatching +MONDO:0013968 skos:exactMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:UnspecifiedMatching +MONDO:0013969 skos:exactMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:UnspecifiedMatching +MONDO:0013970 skos:exactMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:UnspecifiedMatching +MONDO:0013971 skos:exactMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:UnspecifiedMatching +MONDO:0013972 skos:exactMatch OMIM:614926 perrault syndrome 2 semapv:UnspecifiedMatching +MONDO:0013973 skos:exactMatch OMIM:614927 ectodermal dysplasia 5, hair/nail iia semapv:UnspecifiedMatching +MONDO:0013974 skos:exactMatch OMIM:614928 ectodermal dysplasia 6, hair/nail iia semapv:UnspecifiedMatching +MONDO:0013975 skos:exactMatch OMIM:614929 ectodermal dysplasia 7, hair/nail iia semapv:UnspecifiedMatching +MONDO:0013976 skos:exactMatch OMIM:614931 ectodermal dysplasia 9, hair/nail iia semapv:UnspecifiedMatching +MONDO:0013977 skos:exactMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:UnspecifiedMatching +MONDO:0013978 skos:exactMatch OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration semapv:UnspecifiedMatching +MONDO:0013979 skos:exactMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:UnspecifiedMatching +MONDO:0013980 skos:exactMatch OMIM:614936 palmoplantar keratoderma, punctate iia 1b semapv:UnspecifiedMatching +MONDO:0013981 skos:exactMatch omim.ps:614937 Myoclonus, familial semapv:UnspecifiedMatching +MONDO:0013982 skos:exactMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:UnspecifiedMatching +MONDO:0013983 skos:exactMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:UnspecifiedMatching +MONDO:0013984 skos:exactMatch OMIM:614944 deafness, autosomal recessive 84b semapv:UnspecifiedMatching +MONDO:0013985 skos:exactMatch OMIM:614945 deafness, autosomal recessive 18b semapv:UnspecifiedMatching +MONDO:0013986 skos:exactMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:UnspecifiedMatching +MONDO:0013987 skos:exactMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:UnspecifiedMatching +MONDO:0013988 skos:exactMatch OMIM:614954 congenital heart defects, multiple types, 3 semapv:UnspecifiedMatching +MONDO:0013989 skos:exactMatch OMIM:614959 developmental and epileptic encephalopathy 14 semapv:UnspecifiedMatching +MONDO:0013990 skos:exactMatch OMIM:614961 pontocerebellar hypoplasia, iia 8 semapv:UnspecifiedMatching +MONDO:0013991 skos:exactMatch OMIM:614962 leptin deficiency or dysfunction semapv:UnspecifiedMatching +MONDO:0013992 skos:exactMatch OMIM:614963 leptin receptor deficiency semapv:UnspecifiedMatching +MONDO:0013993 skos:exactMatch OMIM:614969 pontocerebellar hypoplasia, iia 7 semapv:UnspecifiedMatching +MONDO:0013994 skos:exactMatch OMIM:614970 joubert syndrome 20 semapv:UnspecifiedMatching +MONDO:0013995 skos:exactMatch OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 semapv:UnspecifiedMatching +MONDO:0013996 skos:exactMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis iia semapv:UnspecifiedMatching +MONDO:0013997 skos:exactMatch OMIM:614974 focal facial dermal dysplasia 4 semapv:UnspecifiedMatching +MONDO:0013998 skos:exactMatch OMIM:614976 carpenter syndrome 2 semapv:UnspecifiedMatching +MONDO:0013999 skos:exactMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:UnspecifiedMatching +MONDO:0014000 skos:exactMatch OMIM:614980 congenital heart defects, multiple types, 2 semapv:UnspecifiedMatching +MONDO:0014001 skos:exactMatch OMIM:614990 usher syndrome, iia 1k semapv:UnspecifiedMatching +MONDO:0014002 skos:exactMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:UnspecifiedMatching +MONDO:0014003 skos:exactMatch OMIM:615006 developmental and epileptic encephalopathy 15 semapv:UnspecifiedMatching +MONDO:0014004 skos:exactMatch OMIM:615007 basal ganglia calcification, idiopathic, 4 semapv:UnspecifiedMatching +MONDO:0014005 skos:exactMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:UnspecifiedMatching +MONDO:0014006 skos:exactMatch OMIM:615009 schuurs-hoeijmakers syndrome semapv:UnspecifiedMatching +MONDO:0014007 skos:exactMatch OMIM:615010 aicardi-goutieres syndrome 6 semapv:UnspecifiedMatching +MONDO:0014008 skos:exactMatch OMIM:615011 phosphohydroxylysinuria semapv:UnspecifiedMatching +MONDO:0014009 skos:exactMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0014010 skos:exactMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:UnspecifiedMatching +MONDO:0014011 skos:exactMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:UnspecifiedMatching +MONDO:0014012 skos:exactMatch OMIM:615025 charcot-marie-tooth disease, axonal, iia 2q semapv:UnspecifiedMatching +MONDO:0014014 skos:exactMatch OMIM:615028 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014015 skos:exactMatch OMIM:615030 spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum semapv:UnspecifiedMatching +MONDO:0014016 skos:exactMatch OMIM:615031 neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay semapv:UnspecifiedMatching +MONDO:0014017 skos:exactMatch OMIM:615032 intellectual developmental disorder with autism and macrocephaly semapv:UnspecifiedMatching +MONDO:0014018 skos:exactMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014019 skos:exactMatch OMIM:615034 dystonia 24 semapv:UnspecifiedMatching +MONDO:0014020 skos:exactMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014021 skos:exactMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:UnspecifiedMatching +MONDO:0014022 skos:exactMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 semapv:UnspecifiedMatching +MONDO:0014023 skos:exactMatch OMIM:615042 congenital disorder of glycosylation, iia iu semapv:UnspecifiedMatching +MONDO:0014024 skos:exactMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014025 skos:exactMatch OMIM:615048 spinal muscular atrophy, jokela iia semapv:UnspecifiedMatching +MONDO:0014026 skos:exactMatch OMIM:615058 night blindness, congenital stationary, iia 1f semapv:UnspecifiedMatching +MONDO:0014027 skos:exactMatch OMIM:615059 hypotrichosis 11 semapv:UnspecifiedMatching +MONDO:0014028 skos:exactMatch OMIM:615065 arthrogryposis, distal, iia 5d semapv:UnspecifiedMatching +MONDO:0014029 skos:exactMatch OMIM:615066 osteogenesis imperfecta, iia 14 semapv:UnspecifiedMatching +MONDO:0014030 skos:exactMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:UnspecifiedMatching +MONDO:0014031 skos:exactMatch OMIM:615071 alazami syndrome semapv:UnspecifiedMatching +MONDO:0014032 skos:exactMatch OMIM:615072 brachydactyly, iia a1, c semapv:UnspecifiedMatching +MONDO:0014033 skos:exactMatch OMIM:615073 dystonia 25 semapv:UnspecifiedMatching +MONDO:0014034 skos:exactMatch OMIM:615074 gand syndrome semapv:UnspecifiedMatching +MONDO:0014035 skos:exactMatch OMIM:615075 neurodevelopmental disorder with spastic diplegia and visual defects semapv:UnspecifiedMatching +MONDO:0014036 skos:exactMatch OMIM:615080 alzheimer disease 17 semapv:UnspecifiedMatching +MONDO:0014037 skos:exactMatch OMIM:615081 spermatogenic failure 11 semapv:UnspecifiedMatching +MONDO:0014038 skos:exactMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0014039 skos:exactMatch OMIM:615084 mitochondrial DNA depletion syndrome 11 semapv:UnspecifiedMatching +MONDO:0014040 skos:exactMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0014041 skos:exactMatch OMIM:615091 autism, susceptibility to, 19 semapv:UnspecifiedMatching +MONDO:0014042 skos:exactMatch OMIM:615092 left ventricular noncompaction 7 semapv:UnspecifiedMatching +MONDO:0014043 skos:exactMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014044 skos:exactMatch OMIM:615102 tyshchenko syndrome semapv:UnspecifiedMatching +MONDO:0014046 skos:exactMatch OMIM:615107 cowden syndrome 4 semapv:UnspecifiedMatching +MONDO:0014047 skos:exactMatch OMIM:615108 cowden syndrome 5 semapv:UnspecifiedMatching +MONDO:0014048 skos:exactMatch OMIM:615109 cowden syndrome 6 semapv:UnspecifiedMatching +MONDO:0014049 skos:exactMatch OMIM:615112 urofacial syndrome 2 semapv:UnspecifiedMatching +MONDO:0014050 skos:exactMatch OMIM:615113 microphthalmia, isolated 8 semapv:UnspecifiedMatching +MONDO:0014051 skos:exactMatch OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 semapv:UnspecifiedMatching +MONDO:0014052 skos:exactMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:UnspecifiedMatching +MONDO:0014053 skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching +MONDO:0014054 skos:exactMatch OMIM:615122 lymphoproliferative syndrome 2 semapv:UnspecifiedMatching +MONDO:0014055 skos:exactMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:UnspecifiedMatching +MONDO:0014056 skos:exactMatch OMIM:615134 melanoma, cutaneous malignant, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0014057 skos:exactMatch OMIM:615135 maple syrup urine disease, mild variant semapv:UnspecifiedMatching +MONDO:0014058 skos:exactMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:UnspecifiedMatching +MONDO:0014059 skos:exactMatch OMIM:615145 microphthalmia, isolated, with coloboma 9 semapv:UnspecifiedMatching +MONDO:0014060 skos:exactMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:UnspecifiedMatching +MONDO:0014061 skos:exactMatch OMIM:615155 steel syndrome semapv:UnspecifiedMatching +MONDO:0014062 skos:exactMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:UnspecifiedMatching +MONDO:0014063 skos:exactMatch OMIM:615157 mitochondrial complex 3 deficiency, nuclear iia 2 semapv:UnspecifiedMatching +MONDO:0014064 skos:exactMatch OMIM:615158 mitochondrial complex 3 deficiency, nuclear iia 3 semapv:UnspecifiedMatching +MONDO:0014065 skos:exactMatch OMIM:615159 mitochondrial complex 3 deficiency, nuclear iia 4 semapv:UnspecifiedMatching +MONDO:0014066 skos:exactMatch OMIM:615160 mitochondrial complex 3 deficiency, nuclear iia 5 semapv:UnspecifiedMatching +MONDO:0014067 skos:exactMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:UnspecifiedMatching +MONDO:0014068 skos:exactMatch OMIM:615163 cone-rod dystrophy 17 semapv:UnspecifiedMatching +MONDO:0014069 skos:exactMatch OMIM:615170 wahab syndrome semapv:UnspecifiedMatching +MONDO:0014070 skos:exactMatch OMIM:615179 albinism, oculocutaneous, iia 7 semapv:UnspecifiedMatching +MONDO:0014071 skos:exactMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:UnspecifiedMatching +MONDO:0014072 skos:exactMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching +MONDO:0014073 skos:exactMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:UnspecifiedMatching +MONDO:0014074 skos:exactMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:UnspecifiedMatching +MONDO:0014075 skos:exactMatch OMIM:615188 cataract 39, multiple types semapv:UnspecifiedMatching +MONDO:0014076 skos:exactMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0014077 skos:exactMatch OMIM:615191 lissencephaly 5 semapv:UnspecifiedMatching +MONDO:0014078 skos:exactMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:UnspecifiedMatching +MONDO:0014079 skos:exactMatch OMIM:615197 restless legs syndrome, susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0014080 skos:exactMatch OMIM:615198 osteosclerotic metaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0014081 skos:exactMatch OMIM:615206 immunodeficiency 11a semapv:UnspecifiedMatching +MONDO:0014082 skos:exactMatch OMIM:615207 immunodeficiency 56 semapv:UnspecifiedMatching +MONDO:0014083 skos:exactMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014084 skos:exactMatch OMIM:615217 ataxia-oculomotor apraxia 3 semapv:UnspecifiedMatching +MONDO:0014085 skos:exactMatch OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:UnspecifiedMatching +MONDO:0014086 skos:exactMatch OMIM:615220 osteogenesis imperfecta, iia 15 semapv:UnspecifiedMatching +MONDO:0014087 skos:exactMatch OMIM:615222 smith-mccort dysplasia 2 semapv:UnspecifiedMatching +MONDO:0014088 skos:exactMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:UnspecifiedMatching +MONDO:0014089 skos:exactMatch OMIM:615225 palmoplantar carcinoma, multiple self-healing semapv:UnspecifiedMatching +MONDO:0014090 skos:exactMatch OMIM:615226 polydactyly, postaxial, iia a6 semapv:UnspecifiedMatching +MONDO:0014091 skos:exactMatch OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b semapv:UnspecifiedMatching +MONDO:0014092 skos:exactMatch OMIM:615232 schizophrenia 18 semapv:UnspecifiedMatching +MONDO:0014093 skos:exactMatch OMIM:615233 retinitis pigmentosa 66 semapv:UnspecifiedMatching +MONDO:0014094 skos:exactMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:UnspecifiedMatching +MONDO:0014095 skos:exactMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:UnspecifiedMatching +MONDO:0014096 skos:exactMatch OMIM:615236 woods syndrome semapv:UnspecifiedMatching +MONDO:0014098 skos:exactMatch OMIM:615238 lipodystrophy, familial partial, iia 5 semapv:UnspecifiedMatching +MONDO:0014099 skos:exactMatch OMIM:615244 nephrotic syndrome, iia 8 semapv:UnspecifiedMatching +MONDO:0014100 skos:exactMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:UnspecifiedMatching +MONDO:0014101 skos:exactMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 semapv:UnspecifiedMatching +MONDO:0014102 skos:exactMatch OMIM:615266 hypogonadotropic hypogonadism 17 with or without anosmia semapv:UnspecifiedMatching +MONDO:0014103 skos:exactMatch OMIM:615267 hypogonadotropic hypogonadism 18 with or without anosmia semapv:UnspecifiedMatching +MONDO:0014104 skos:exactMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:UnspecifiedMatching +MONDO:0014105 skos:exactMatch OMIM:615269 hypogonadotropic hypogonadism 19 with or without anosmia semapv:UnspecifiedMatching +MONDO:0014106 skos:exactMatch OMIM:615270 hypogonadotropic hypogonadism 20 with or without anosmia semapv:UnspecifiedMatching +MONDO:0014107 skos:exactMatch OMIM:615271 hypogonadotropic hypogonadism 21 with or without anosmia semapv:UnspecifiedMatching +MONDO:0014108 skos:exactMatch OMIM:615272 fanconi anemia, complementation group q semapv:UnspecifiedMatching +MONDO:0014110 skos:exactMatch OMIM:615274 cataract 15, multiple types semapv:UnspecifiedMatching +MONDO:0014111 skos:exactMatch OMIM:615277 cataract 19, multiple types semapv:UnspecifiedMatching +MONDO:0014112 skos:exactMatch OMIM:615278 cardiofaciocutaneous syndrome 2 semapv:UnspecifiedMatching +MONDO:0014113 skos:exactMatch OMIM:615279 cardiofaciocutaneous syndrome 3 semapv:UnspecifiedMatching +MONDO:0014114 skos:exactMatch OMIM:615280 cardiofaciocutaneous syndrome 4 semapv:UnspecifiedMatching +MONDO:0014115 skos:exactMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:UnspecifiedMatching +MONDO:0014116 skos:exactMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:UnspecifiedMatching +MONDO:0014117 skos:exactMatch OMIM:615284 charcot-marie-tooth disease, iia 4b3 semapv:UnspecifiedMatching +MONDO:0014118 skos:exactMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014119 skos:exactMatch OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0014120 skos:exactMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 semapv:UnspecifiedMatching +MONDO:0014121 skos:exactMatch OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014122 skos:exactMatch OMIM:615293 myofibromatosis, infantile, 2 semapv:UnspecifiedMatching +MONDO:0014123 skos:exactMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:UnspecifiedMatching +MONDO:0014124 skos:exactMatch OMIM:615297 adams-oliver syndrome 4 semapv:UnspecifiedMatching +MONDO:0014125 skos:exactMatch OMIM:615298 symphalangism, proximal, 1b semapv:UnspecifiedMatching +MONDO:0014126 skos:exactMatch OMIM:615300 perrault syndrome 4 semapv:UnspecifiedMatching +MONDO:0014127 skos:exactMatch OMIM:615312 albinism, oculocutaneous, iia 5 semapv:UnspecifiedMatching +MONDO:0014128 skos:exactMatch OMIM:615314 craniosynostosis 3 semapv:UnspecifiedMatching +MONDO:0014130 skos:exactMatch OMIM:615327 dowling-degos disease 2 semapv:UnspecifiedMatching +MONDO:0014131 skos:exactMatch OMIM:615328 shaheen syndrome semapv:UnspecifiedMatching +MONDO:0014132 skos:exactMatch OMIM:615330 multiple mitochondrial dysfunctions syndrome 3 semapv:UnspecifiedMatching +MONDO:0014133 skos:exactMatch OMIM:615338 developmental and epileptic encephalopathy 16 semapv:UnspecifiedMatching +MONDO:0014134 skos:exactMatch OMIM:615342 pulmonary hypertension, primary, 2 semapv:UnspecifiedMatching +MONDO:0014135 skos:exactMatch OMIM:615343 pulmonary hypertension, primary, 3 semapv:UnspecifiedMatching +MONDO:0014136 skos:exactMatch OMIM:615344 pulmonary hypertension, primary, 4 semapv:UnspecifiedMatching +MONDO:0014137 skos:exactMatch OMIM:615346 precocious puberty, central, 2 semapv:UnspecifiedMatching +MONDO:0014138 skos:exactMatch OMIM:615348 nemaline myopathy 8 semapv:UnspecifiedMatching +MONDO:0014139 skos:exactMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:UnspecifiedMatching +MONDO:0014140 skos:exactMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 semapv:UnspecifiedMatching +MONDO:0014141 skos:exactMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:UnspecifiedMatching +MONDO:0014142 skos:exactMatch OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 semapv:UnspecifiedMatching +MONDO:0014143 skos:exactMatch OMIM:615355 noonan syndrome 8 semapv:UnspecifiedMatching +MONDO:0014144 skos:exactMatch OMIM:615356 muscular dystrophy, limb-girdle, autosomal recessive 18 semapv:UnspecifiedMatching +MONDO:0014145 skos:exactMatch OMIM:615360 leber congenital amaurosis 17 semapv:UnspecifiedMatching +MONDO:0014146 skos:exactMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0014147 skos:exactMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:UnspecifiedMatching +MONDO:0014148 skos:exactMatch OMIM:615363 estrogen resistance semapv:UnspecifiedMatching +MONDO:0014149 skos:exactMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:UnspecifiedMatching +MONDO:0014150 skos:exactMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:UnspecifiedMatching +MONDO:0014151 skos:exactMatch OMIM:615371 pulmonary hypertension, neonatal, susceptibility to semapv:UnspecifiedMatching +MONDO:0014152 skos:exactMatch OMIM:615373 left ventricular noncompaction 8 semapv:UnspecifiedMatching +MONDO:0014153 skos:exactMatch OMIM:615374 cone-rod dystrophy 18 semapv:UnspecifiedMatching +MONDO:0014154 skos:exactMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:UnspecifiedMatching +MONDO:0014155 skos:exactMatch OMIM:615377 atrial fibrillation, familial, 13 semapv:UnspecifiedMatching +MONDO:0014156 skos:exactMatch OMIM:615378 atrial fibrillation, familial, 14 semapv:UnspecifiedMatching +MONDO:0014157 skos:exactMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:UnspecifiedMatching +MONDO:0014158 skos:exactMatch OMIM:615382 nephronophthisis 16 semapv:UnspecifiedMatching +MONDO:0014159 skos:exactMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:UnspecifiedMatching +MONDO:0014160 skos:exactMatch OMIM:615387 immunodeficiency 7 semapv:UnspecifiedMatching +MONDO:0014161 skos:exactMatch OMIM:615390 vesicoureteral reflux 7 semapv:UnspecifiedMatching +MONDO:0014162 skos:exactMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:UnspecifiedMatching +MONDO:0014163 skos:exactMatch OMIM:615396 left ventricular noncompaction 10 semapv:UnspecifiedMatching +MONDO:0014164 skos:exactMatch OMIM:615397 meckel syndrome, iia 11 semapv:UnspecifiedMatching +MONDO:0014165 skos:exactMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:UnspecifiedMatching +MONDO:0014166 skos:exactMatch OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 semapv:UnspecifiedMatching +MONDO:0014167 skos:exactMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:UnspecifiedMatching +MONDO:0014168 skos:exactMatch OMIM:615401 immunodeficiency 8 with lymphoproliferation semapv:UnspecifiedMatching +MONDO:0014169 skos:exactMatch OMIM:615402 dyschromatosis universalis hereditaria 3 semapv:UnspecifiedMatching +MONDO:0014170 skos:exactMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:UnspecifiedMatching +MONDO:0014171 skos:exactMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:UnspecifiedMatching +MONDO:0014172 skos:exactMatch OMIM:615413 spermatogenic failure 12 semapv:UnspecifiedMatching +MONDO:0014173 skos:exactMatch OMIM:615414 microcephaly 11, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014174 skos:exactMatch OMIM:615415 renal-hepatic-pancreatic dysplasia 2 semapv:UnspecifiedMatching +MONDO:0014175 skos:exactMatch OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive semapv:UnspecifiedMatching +MONDO:0014176 skos:exactMatch omim.ps:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies semapv:UnspecifiedMatching +MONDO:0014177 skos:exactMatch OMIM:615420 myopia 22, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014178 skos:exactMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:UnspecifiedMatching +MONDO:0014179 skos:exactMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:UnspecifiedMatching +MONDO:0014180 skos:exactMatch OMIM:615425 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency semapv:UnspecifiedMatching +MONDO:0014181 skos:exactMatch OMIM:615426 amyotrophic lateral sclerosis 20 semapv:UnspecifiedMatching +MONDO:0014182 skos:exactMatch OMIM:615429 deafness, autosomal recessive 88 semapv:UnspecifiedMatching +MONDO:0014183 skos:exactMatch OMIM:615431 myopia 23, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014184 skos:exactMatch OMIM:615432 specific language impairment 5 semapv:UnspecifiedMatching +MONDO:0014185 skos:exactMatch OMIM:615433 chromosome 3q13.31 deletion syndrome semapv:UnspecifiedMatching +MONDO:0014186 skos:exactMatch OMIM:615434 retinitis pigmentosa 82 with or without situs inversus semapv:UnspecifiedMatching +MONDO:0014187 skos:exactMatch OMIM:615436 aortic aneurysm, familial thoracic 8 semapv:UnspecifiedMatching +MONDO:0014189 skos:exactMatch OMIM:615439 macular degeneration, age-related, 13 semapv:UnspecifiedMatching +MONDO:0014190 skos:exactMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:UnspecifiedMatching +MONDO:0014191 skos:exactMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:UnspecifiedMatching +MONDO:0014192 skos:exactMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:UnspecifiedMatching +MONDO:0014193 skos:exactMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:UnspecifiedMatching +MONDO:0014194 skos:exactMatch OMIM:615453 mitochondrial complex 3 deficiency, nuclear iia 6 semapv:UnspecifiedMatching +MONDO:0014195 skos:exactMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:UnspecifiedMatching +MONDO:0014196 skos:exactMatch OMIM:615465 hartsfield syndrome semapv:UnspecifiedMatching +MONDO:0014197 skos:exactMatch OMIM:615468 immunodeficiency 12 semapv:UnspecifiedMatching +MONDO:0014198 skos:exactMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:UnspecifiedMatching +MONDO:0014199 skos:exactMatch OMIM:615473 developmental and epileptic encephalopathy 17 semapv:UnspecifiedMatching +MONDO:0014200 skos:exactMatch OMIM:615474 primary aldosteronism, seizures, and neurologic abnormalities semapv:UnspecifiedMatching +MONDO:0014201 skos:exactMatch OMIM:615476 developmental and epileptic encephalopathy 18 semapv:UnspecifiedMatching +MONDO:0014202 skos:exactMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:UnspecifiedMatching +MONDO:0014203 skos:exactMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:UnspecifiedMatching +MONDO:0014204 skos:exactMatch OMIM:615483 basal ganglia calcification, idiopathic, 5 semapv:UnspecifiedMatching +MONDO:0014205 skos:exactMatch OMIM:615485 bainbridge-ropers syndrome semapv:UnspecifiedMatching +MONDO:0014206 skos:exactMatch OMIM:615486 interstitial lung and liver disease semapv:UnspecifiedMatching +MONDO:0014207 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:UnspecifiedMatching +MONDO:0014208 skos:exactMatch OMIM:615490 charcot-marie-tooth disease, axonal, iia 2r semapv:UnspecifiedMatching +MONDO:0014209 skos:exactMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014210 skos:exactMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:UnspecifiedMatching +MONDO:0014211 skos:exactMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:UnspecifiedMatching +MONDO:0014212 skos:exactMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:UnspecifiedMatching +MONDO:0014213 skos:exactMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:UnspecifiedMatching +MONDO:0014214 skos:exactMatch OMIM:615503 short-rib thoracic dysplasia 8 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0014215 skos:exactMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:UnspecifiedMatching +MONDO:0014216 skos:exactMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:UnspecifiedMatching +MONDO:0014217 skos:exactMatch OMIM:615506 telangiectasia, hereditary hemorrhagic, iia 5 semapv:UnspecifiedMatching +MONDO:0014218 skos:exactMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:UnspecifiedMatching +MONDO:0014219 skos:exactMatch OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome semapv:UnspecifiedMatching +MONDO:0014220 skos:exactMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:UnspecifiedMatching +MONDO:0014221 skos:exactMatch OMIM:615512 triosephosphate isomerase deficiency semapv:UnspecifiedMatching +MONDO:0014222 skos:exactMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014223 skos:exactMatch OMIM:615515 amyotrophic lateral sclerosis 19 semapv:UnspecifiedMatching +MONDO:0014224 skos:exactMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:UnspecifiedMatching +MONDO:0014225 skos:exactMatch OMIM:615517 hemochromatosis, iia 5 semapv:UnspecifiedMatching +MONDO:0014226 skos:exactMatch OMIM:615518 immunodeficiency 13 semapv:UnspecifiedMatching +MONDO:0014227 skos:exactMatch OMIM:615522 cole disease semapv:UnspecifiedMatching +MONDO:0014228 skos:exactMatch OMIM:615523 corneal dystrophy, fuchs endothelial, 8 semapv:UnspecifiedMatching +MONDO:0014229 skos:exactMatch OMIM:615524 microphthalmia, syndromic 12 semapv:UnspecifiedMatching +MONDO:0014230 skos:exactMatch OMIM:615527 candidiasis, familial, 8 semapv:UnspecifiedMatching +MONDO:0014231 skos:exactMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:UnspecifiedMatching +MONDO:0014232 skos:exactMatch OMIM:615529 craniosynostosis 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0014233 skos:exactMatch OMIM:615530 parkinson disease 20, early-onset semapv:UnspecifiedMatching +MONDO:0014234 skos:exactMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:UnspecifiedMatching +MONDO:0014235 skos:exactMatch OMIM:615538 chromosome 22q13 duplication syndrome semapv:UnspecifiedMatching +MONDO:0014236 skos:exactMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:UnspecifiedMatching +MONDO:0014237 skos:exactMatch OMIM:615540 deafness, autosomal recessive 76 semapv:UnspecifiedMatching +MONDO:0014238 skos:exactMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:UnspecifiedMatching +MONDO:0014239 skos:exactMatch OMIM:615542 testicular anomalies with or without congenital heart disease semapv:UnspecifiedMatching +MONDO:0014240 skos:exactMatch OMIM:615544 periventricular nodular heterotopia 6 semapv:UnspecifiedMatching +MONDO:0014241 skos:exactMatch OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0014242 skos:exactMatch OMIM:615546 van maldergem syndrome 2 semapv:UnspecifiedMatching +MONDO:0014243 skos:exactMatch OMIM:615547 schaaf-yang syndrome semapv:UnspecifiedMatching +MONDO:0014244 skos:exactMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:UnspecifiedMatching +MONDO:0014245 skos:exactMatch OMIM:615550 diamond-blackfan anemia 12 semapv:UnspecifiedMatching +MONDO:0014246 skos:exactMatch OMIM:615551 episodic pain syndrome, familial, 2 semapv:UnspecifiedMatching +MONDO:0014247 skos:exactMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:UnspecifiedMatching +MONDO:0014248 skos:exactMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:UnspecifiedMatching +MONDO:0014249 skos:exactMatch OMIM:615554 multiple fibroadenomas of the breast semapv:UnspecifiedMatching +MONDO:0014250 skos:exactMatch OMIM:615555 hyperprolactinemia semapv:UnspecifiedMatching +MONDO:0014251 skos:exactMatch OMIM:615557 melioidosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0014252 skos:exactMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:UnspecifiedMatching +MONDO:0014254 skos:exactMatch OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency semapv:UnspecifiedMatching +MONDO:0014255 skos:exactMatch OMIM:615561 complement factor B deficiency semapv:UnspecifiedMatching +MONDO:0014256 skos:exactMatch OMIM:615565 retinitis pigmentosa 67 semapv:UnspecifiedMatching +MONDO:0014257 skos:exactMatch OMIM:615573 nephrotic syndrome, iia 9 semapv:UnspecifiedMatching +MONDO:0014258 skos:exactMatch OMIM:615574 asparagine synthetase deficiency semapv:UnspecifiedMatching +MONDO:0014259 skos:exactMatch OMIM:615575 neuronopathy, distal hereditary motor, autosomal dominant 6 semapv:UnspecifiedMatching +MONDO:0014260 skos:exactMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:UnspecifiedMatching +MONDO:0014261 skos:exactMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:UnspecifiedMatching +MONDO:0014262 skos:exactMatch OMIM:615582 loeys-dietz syndrome 5 semapv:UnspecifiedMatching +MONDO:0014263 skos:exactMatch OMIM:615583 verheij syndrome semapv:UnspecifiedMatching +MONDO:0014264 skos:exactMatch OMIM:615589 otosclerosis 10 semapv:UnspecifiedMatching +MONDO:0014265 skos:exactMatch OMIM:615590 alzheimer disease 18 semapv:UnspecifiedMatching +MONDO:0014266 skos:exactMatch OMIM:615591 macular degeneration, age-related, 15 semapv:UnspecifiedMatching +MONDO:0014267 skos:exactMatch OMIM:615592 immunodeficiency 15b semapv:UnspecifiedMatching +MONDO:0014268 skos:exactMatch OMIM:615593 immunodeficiency 16 semapv:UnspecifiedMatching +MONDO:0014269 skos:exactMatch OMIM:615595 combined oxidative phosphorylation deficiency 19 semapv:UnspecifiedMatching +MONDO:0014270 skos:exactMatch OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014271 skos:exactMatch OMIM:615597 congenital disorder of glycosylation, iia ix semapv:UnspecifiedMatching +MONDO:0014272 skos:exactMatch OMIM:615598 palmoplantar keratoderma, nagashima iia semapv:UnspecifiedMatching +MONDO:0014273 skos:exactMatch OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity semapv:UnspecifiedMatching +MONDO:0014274 skos:exactMatch OMIM:615604 l-ferritin deficiency semapv:UnspecifiedMatching +MONDO:0014275 skos:exactMatch OMIM:615605 fanconi renotubular syndrome 3 semapv:UnspecifiedMatching +MONDO:0014276 skos:exactMatch OMIM:615607 immunodeficiency 17 semapv:UnspecifiedMatching +MONDO:0014277 skos:exactMatch OMIM:615612 developmental dysplasia of the hip 2 semapv:UnspecifiedMatching +MONDO:0014278 skos:exactMatch OMIM:615615 immunodeficiency 18 semapv:UnspecifiedMatching +MONDO:0014280 skos:exactMatch OMIM:615617 immunodeficiency 19 semapv:UnspecifiedMatching +MONDO:0014281 skos:exactMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:UnspecifiedMatching +MONDO:0014282 skos:exactMatch OMIM:615625 spastic paraplegia 72a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014283 skos:exactMatch OMIM:615629 deafness, autosomal dominant 56 semapv:UnspecifiedMatching +MONDO:0014284 skos:exactMatch OMIM:615630 short-rib thoracic dysplasia 10 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0014285 skos:exactMatch OMIM:615631 anemia, congenital dyserythropoietic, iia ib semapv:UnspecifiedMatching +MONDO:0014286 skos:exactMatch OMIM:615632 neuropathy, hereditary sensory, iia 1f semapv:UnspecifiedMatching +MONDO:0014287 skos:exactMatch OMIM:615633 short-rib thoracic dysplasia 11 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0014288 skos:exactMatch OMIM:615636 joubert syndrome 21 semapv:UnspecifiedMatching +MONDO:0014289 skos:exactMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:UnspecifiedMatching +MONDO:0014290 skos:exactMatch OMIM:615643 neurodegeneration with brain iron accumulation 6 semapv:UnspecifiedMatching +MONDO:0014291 skos:exactMatch OMIM:615649 deafness, autosomal dominant 54 semapv:UnspecifiedMatching +MONDO:0014292 skos:exactMatch OMIM:615651 leukoencephalopathy with ataxia semapv:UnspecifiedMatching +MONDO:0014293 skos:exactMatch OMIM:615654 deafness, autosomal dominant 58 semapv:UnspecifiedMatching +MONDO:0014294 skos:exactMatch OMIM:615656 chromosome 15q11.2 deletion syndrome semapv:UnspecifiedMatching +MONDO:0014295 skos:exactMatch OMIM:615658 spastic paraplegia 57, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014296 skos:exactMatch OMIM:615663 warburg micro syndrome 4 semapv:UnspecifiedMatching +MONDO:0014297 skos:exactMatch OMIM:615665 joubert syndrome 22 semapv:UnspecifiedMatching +MONDO:0014298 skos:exactMatch OMIM:615668 chromosome 5q12 deletion syndrome semapv:UnspecifiedMatching +MONDO:0014299 skos:exactMatch OMIM:615670 schwannomatosis 2 semapv:UnspecifiedMatching +MONDO:0014300 skos:exactMatch OMIM:615673 myopathy with extrapyramidal signs semapv:UnspecifiedMatching +MONDO:0014301 skos:exactMatch OMIM:615674 dowling-degos disease 3 semapv:UnspecifiedMatching +MONDO:0014302 skos:exactMatch OMIM:615681 spastic paraplegia 62, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014303 skos:exactMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014304 skos:exactMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014305 skos:exactMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014306 skos:exactMatch OMIM:615688 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome semapv:UnspecifiedMatching +MONDO:0014307 skos:exactMatch OMIM:615696 dowling-degos disease 4 semapv:UnspecifiedMatching +MONDO:0014308 skos:exactMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:UnspecifiedMatching +MONDO:0014309 skos:exactMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:UnspecifiedMatching +MONDO:0014310 skos:exactMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:UnspecifiedMatching +MONDO:0014311 skos:exactMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:UnspecifiedMatching +MONDO:0014312 skos:exactMatch OMIM:615706 auriculocondylar syndrome 3 semapv:UnspecifiedMatching +MONDO:0014313 skos:exactMatch OMIM:615707 immunodeficiency 20 semapv:UnspecifiedMatching +MONDO:0014314 skos:exactMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:UnspecifiedMatching +MONDO:0014316 skos:exactMatch OMIM:615711 alzheimer disease 19 semapv:UnspecifiedMatching +MONDO:0014317 skos:exactMatch OMIM:615715 bone marrow failure syndrome 2 semapv:UnspecifiedMatching +MONDO:0014318 skos:exactMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:UnspecifiedMatching +MONDO:0014319 skos:exactMatch OMIM:615721 renal hypodysplasia/aplasia 2 semapv:UnspecifiedMatching +MONDO:0014320 skos:exactMatch OMIM:615722 bosch-boonstra-schaaf optic atrophy syndrome semapv:UnspecifiedMatching +MONDO:0014321 skos:exactMatch OMIM:615723 premature ovarian failure 8 semapv:UnspecifiedMatching +MONDO:0014322 skos:exactMatch OMIM:615724 premature ovarian failure 9 semapv:UnspecifiedMatching +MONDO:0014323 skos:exactMatch OMIM:615725 retinitis pigmentosa 68 semapv:UnspecifiedMatching +MONDO:0014324 skos:exactMatch OMIM:615726 pachyonychia congenita 3 semapv:UnspecifiedMatching +MONDO:0014325 skos:exactMatch OMIM:615728 pachyonychia congenita 4 semapv:UnspecifiedMatching +MONDO:0014326 skos:exactMatch OMIM:615731 nemaline myopathy 9 semapv:UnspecifiedMatching +MONDO:0014327 skos:exactMatch OMIM:615735 palmoplantar keratoderma, nonepidermolytic, focal or diffuse semapv:UnspecifiedMatching +MONDO:0014328 skos:exactMatch OMIM:615744 developmental and epileptic encephalopathy 19 semapv:UnspecifiedMatching +MONDO:0014329 skos:exactMatch OMIM:615745 atrial standstill 2 semapv:UnspecifiedMatching +MONDO:0014330 skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching +MONDO:0014331 skos:exactMatch OMIM:615750 moyamoya disease 6 with or without achalasia semapv:UnspecifiedMatching +MONDO:0014332 skos:exactMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:UnspecifiedMatching +MONDO:0014333 skos:exactMatch OMIM:615752 cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian) semapv:UnspecifiedMatching +MONDO:0014334 skos:exactMatch OMIM:615758 immunodeficiency 22 semapv:UnspecifiedMatching +MONDO:0014335 skos:exactMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:UnspecifiedMatching +MONDO:0014336 skos:exactMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:UnspecifiedMatching +MONDO:0014337 skos:exactMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:UnspecifiedMatching +MONDO:0014338 skos:exactMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:UnspecifiedMatching +MONDO:0014339 skos:exactMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:UnspecifiedMatching +MONDO:0014340 skos:exactMatch OMIM:615770 atrial fibrillation, familial, 15 semapv:UnspecifiedMatching +MONDO:0014341 skos:exactMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:UnspecifiedMatching +MONDO:0014342 skos:exactMatch OMIM:615774 oocyte/zygote/embryo maturation arrest 1 semapv:UnspecifiedMatching +MONDO:0014343 skos:exactMatch OMIM:615777 desbuquois dysplasia 2 semapv:UnspecifiedMatching +MONDO:0014344 skos:exactMatch OMIM:615779 congenital heart defects, multiple types, 4 semapv:UnspecifiedMatching +MONDO:0014345 skos:exactMatch OMIM:615780 retinitis pigmentosa 69 semapv:UnspecifiedMatching +MONDO:0014346 skos:exactMatch OMIM:615785 white sponge nevus 2 semapv:UnspecifiedMatching +MONDO:0014347 skos:exactMatch OMIM:615789 short stature with microcephaly and distinctive facies semapv:UnspecifiedMatching +MONDO:0014348 skos:exactMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0014349 skos:exactMatch OMIM:615803 pontocerebellar hypoplasia, iia 10 semapv:UnspecifiedMatching +MONDO:0014350 skos:exactMatch OMIM:615807 seckel syndrome 8 semapv:UnspecifiedMatching +MONDO:0014351 skos:exactMatch OMIM:615809 pontocerebellar hypoplasia, iia 9 semapv:UnspecifiedMatching +MONDO:0014352 skos:exactMatch OMIM:615812 abdominal obesity-metabolic syndrome 3 semapv:UnspecifiedMatching +MONDO:0014353 skos:exactMatch OMIM:615816 immunodeficiency 23 semapv:UnspecifiedMatching +MONDO:0014354 skos:exactMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:UnspecifiedMatching +MONDO:0014355 skos:exactMatch OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:UnspecifiedMatching +MONDO:0014356 skos:exactMatch OMIM:615824 mitochondrial complex 3 deficiency, nuclear iia 7 semapv:UnspecifiedMatching +MONDO:0014357 skos:exactMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:UnspecifiedMatching +MONDO:0014358 skos:exactMatch OMIM:615829 xia-gibbs syndrome semapv:UnspecifiedMatching +MONDO:0014359 skos:exactMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:UnspecifiedMatching +MONDO:0014360 skos:exactMatch OMIM:615833 developmental and epileptic encephalopathy 21 semapv:UnspecifiedMatching +MONDO:0014361 skos:exactMatch OMIM:615834 intellectual developmental disorder, autosomal dominant 26 semapv:UnspecifiedMatching +MONDO:0014362 skos:exactMatch OMIM:615835 chromosome 16 inversion, 0.45-mb semapv:UnspecifiedMatching +MONDO:0014363 skos:exactMatch OMIM:615837 deafness, autosomal recessive 101 semapv:UnspecifiedMatching +MONDO:0014364 skos:exactMatch OMIM:615838 mitochondrial complex 3 deficiency, nuclear iia 8 semapv:UnspecifiedMatching +MONDO:0014365 skos:exactMatch OMIM:615841 spermatogenic failure 13 semapv:UnspecifiedMatching +MONDO:0014366 skos:exactMatch OMIM:615842 spermatogenic failure 14 semapv:UnspecifiedMatching +MONDO:0014367 skos:exactMatch OMIM:615846 aicardi-goutieres syndrome 7 semapv:UnspecifiedMatching +MONDO:0014368 skos:exactMatch OMIM:615848 tumor predisposition syndrome 3 semapv:UnspecifiedMatching +MONDO:0014369 skos:exactMatch OMIM:615849 culler-jones syndrome semapv:UnspecifiedMatching +MONDO:0014370 skos:exactMatch OMIM:615851 pontocerebellar hypoplasia, iia 2e semapv:UnspecifiedMatching +MONDO:0014371 skos:exactMatch OMIM:615859 developmental and epileptic encephalopathy 23 semapv:UnspecifiedMatching +MONDO:0014372 skos:exactMatch OMIM:615860 cone-rod dystrophy 19 semapv:UnspecifiedMatching +MONDO:0014373 skos:exactMatch OMIM:615861 nephrotic syndrome, iia 10 semapv:UnspecifiedMatching +MONDO:0014374 skos:exactMatch OMIM:615862 nephronophthisis 18 semapv:UnspecifiedMatching +MONDO:0014375 skos:exactMatch OMIM:615863 diarrhea 7, protein-losing enteropathy iia semapv:UnspecifiedMatching +MONDO:0014376 skos:exactMatch OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0014377 skos:exactMatch OMIM:615871 developmental and epileptic encephalopathy 24 semapv:UnspecifiedMatching +MONDO:0014378 skos:exactMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:UnspecifiedMatching +MONDO:0014379 skos:exactMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:UnspecifiedMatching +MONDO:0014380 skos:exactMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0014381 skos:exactMatch OMIM:615878 cholestasis, progressive familial intrahepatic, 4 semapv:UnspecifiedMatching +MONDO:0014382 skos:exactMatch OMIM:615879 tatton-brown-rahman syndrome semapv:UnspecifiedMatching +MONDO:0014383 skos:exactMatch OMIM:615883 myopathy, tubular aggregate, 2 semapv:UnspecifiedMatching +MONDO:0014384 skos:exactMatch OMIM:615885 hypotrichosis 12 semapv:UnspecifiedMatching +MONDO:0014385 skos:exactMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:UnspecifiedMatching +MONDO:0014386 skos:exactMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:UnspecifiedMatching +MONDO:0014387 skos:exactMatch OMIM:615889 leukoencephalopathy, progressive, with ovarian failure semapv:UnspecifiedMatching +MONDO:0014388 skos:exactMatch OMIM:615892 orofacial cleft 14 semapv:UnspecifiedMatching +MONDO:0014389 skos:exactMatch OMIM:615895 polyglucosan body myopathy 1 with or without immunodeficiency semapv:UnspecifiedMatching +MONDO:0014390 skos:exactMatch OMIM:615896 hypotrichosis 13 semapv:UnspecifiedMatching +MONDO:0014391 skos:exactMatch OMIM:615897 immunodeficiency 24 semapv:UnspecifiedMatching +MONDO:0014392 skos:exactMatch OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0014393 skos:exactMatch OMIM:615907 lymphatic malformation 4 semapv:UnspecifiedMatching +MONDO:0014394 skos:exactMatch OMIM:615909 diamond-blackfan anemia 13 semapv:UnspecifiedMatching +MONDO:0014395 skos:exactMatch OMIM:615911 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 semapv:UnspecifiedMatching +MONDO:0014396 skos:exactMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:UnspecifiedMatching +MONDO:0014397 skos:exactMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:UnspecifiedMatching +MONDO:0014398 skos:exactMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:UnspecifiedMatching +MONDO:0014399 skos:exactMatch OMIM:615919 ataxia-telangiectasia-like disorder 2 semapv:UnspecifiedMatching +MONDO:0014400 skos:exactMatch OMIM:615922 retinitis pigmentosa 70 semapv:UnspecifiedMatching +MONDO:0014401 skos:exactMatch OMIM:615923 epiphyseal chondrodysplasia, miura iia semapv:UnspecifiedMatching +MONDO:0014402 skos:exactMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:UnspecifiedMatching +MONDO:0014403 skos:exactMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:UnspecifiedMatching +MONDO:0014404 skos:exactMatch OMIM:615926 webb-dattani syndrome semapv:UnspecifiedMatching +MONDO:0014405 skos:exactMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:UnspecifiedMatching +MONDO:0014406 skos:exactMatch OMIM:615935 pancreatic agenesis 2 semapv:UnspecifiedMatching +MONDO:0014407 skos:exactMatch OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 semapv:UnspecifiedMatching +MONDO:0014408 skos:exactMatch OMIM:615938 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 semapv:UnspecifiedMatching +MONDO:0014409 skos:exactMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:UnspecifiedMatching +MONDO:0014410 skos:exactMatch OMIM:615945 spinocerebellar ataxia 37 semapv:UnspecifiedMatching +MONDO:0014411 skos:exactMatch OMIM:615946 myopia 24, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014412 skos:exactMatch OMIM:615947 hyperlipoproteinemia, iia 1d semapv:UnspecifiedMatching +MONDO:0014413 skos:exactMatch OMIM:615948 orofaciodigital syndrome 14 semapv:UnspecifiedMatching +MONDO:0014414 skos:exactMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:UnspecifiedMatching +MONDO:0014415 skos:exactMatch OMIM:615953 kallikrein, decreased urinary activity of semapv:UnspecifiedMatching +MONDO:0014416 skos:exactMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:UnspecifiedMatching +MONDO:0014417 skos:exactMatch OMIM:615957 spinocerebellar ataxia 38 semapv:UnspecifiedMatching +MONDO:0014418 skos:exactMatch OMIM:615959 myopathy, centronuclear, 5 semapv:UnspecifiedMatching +MONDO:0014419 skos:exactMatch OMIM:615960 poretti-boltshauser syndrome semapv:UnspecifiedMatching +MONDO:0014420 skos:exactMatch OMIM:615961 acid-labile subunit deficiency semapv:UnspecifiedMatching +MONDO:0014421 skos:exactMatch OMIM:615962 glucocorticoid resistance, generalized semapv:UnspecifiedMatching +MONDO:0014422 skos:exactMatch OMIM:615963 vesicoureteral reflux 8 semapv:UnspecifiedMatching +MONDO:0014423 skos:exactMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:UnspecifiedMatching +MONDO:0014424 skos:exactMatch OMIM:615969 alpha-fetoprotein deficiency semapv:UnspecifiedMatching +MONDO:0014425 skos:exactMatch OMIM:615970 alpha-fetoprotein, hereditary persistence of semapv:UnspecifiedMatching +MONDO:0014426 skos:exactMatch OMIM:615972 nanophthalmos 4 semapv:UnspecifiedMatching +MONDO:0014427 skos:exactMatch OMIM:615973 cone-rod dystrophy 20 semapv:UnspecifiedMatching +MONDO:0014428 skos:exactMatch OMIM:615974 deafness, autosomal recessive 102 semapv:UnspecifiedMatching +MONDO:0014429 skos:exactMatch OMIM:615978 immunodeficiency 27b semapv:UnspecifiedMatching +MONDO:0014430 skos:exactMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:UnspecifiedMatching +MONDO:0014431 skos:exactMatch OMIM:615980 lipodystrophy, familial partial, iia 6 semapv:UnspecifiedMatching +MONDO:0014432 skos:exactMatch OMIM:615981 bardet-biedl syndrome 2 semapv:UnspecifiedMatching +MONDO:0014433 skos:exactMatch OMIM:615982 bardet-biedl syndrome 4 semapv:UnspecifiedMatching +MONDO:0014434 skos:exactMatch OMIM:615983 bardet-biedl syndrome 5 semapv:UnspecifiedMatching +MONDO:0014435 skos:exactMatch OMIM:615984 bardet-biedl syndrome 7 semapv:UnspecifiedMatching +MONDO:0014436 skos:exactMatch OMIM:615985 bardet-biedl syndrome 8 semapv:UnspecifiedMatching +MONDO:0014437 skos:exactMatch OMIM:615986 bardet-biedl syndrome 9 semapv:UnspecifiedMatching +MONDO:0014438 skos:exactMatch OMIM:615987 bardet-biedl syndrome 10 semapv:UnspecifiedMatching +MONDO:0014439 skos:exactMatch OMIM:615988 bardet-biedl syndrome 11 semapv:UnspecifiedMatching +MONDO:0014440 skos:exactMatch OMIM:615989 bardet-biedl syndrome 12 semapv:UnspecifiedMatching +MONDO:0014441 skos:exactMatch OMIM:615990 bardet-biedl syndrome 13 semapv:UnspecifiedMatching +MONDO:0014442 skos:exactMatch OMIM:615991 bardet-biedl syndrome 14 semapv:UnspecifiedMatching +MONDO:0014443 skos:exactMatch OMIM:615992 bardet-biedl syndrome 15 semapv:UnspecifiedMatching +MONDO:0014444 skos:exactMatch OMIM:615993 bardet-biedl syndrome 16 semapv:UnspecifiedMatching +MONDO:0014445 skos:exactMatch OMIM:615994 bardet-biedl syndrome 17 semapv:UnspecifiedMatching +MONDO:0014446 skos:exactMatch OMIM:615995 bardet-biedl syndrome 18 semapv:UnspecifiedMatching +MONDO:0014447 skos:exactMatch OMIM:615996 bardet-biedl syndrome 19 semapv:UnspecifiedMatching +MONDO:0014448 skos:exactMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:UnspecifiedMatching +MONDO:0014449 skos:exactMatch OMIM:616000 analbuminemia semapv:UnspecifiedMatching +MONDO:0014450 skos:exactMatch OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 semapv:UnspecifiedMatching +MONDO:0014451 skos:exactMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:UnspecifiedMatching +MONDO:0014452 skos:exactMatch OMIM:616004 dysfibrinogenemia, congenital semapv:UnspecifiedMatching +MONDO:0014453 skos:exactMatch OMIM:616005 immunodeficiency 36 with lymphoproliferation semapv:UnspecifiedMatching +MONDO:0014454 skos:exactMatch OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 semapv:UnspecifiedMatching +MONDO:0014455 skos:exactMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:UnspecifiedMatching +MONDO:0014456 skos:exactMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014457 skos:exactMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:UnspecifiedMatching +MONDO:0014458 skos:exactMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:UnspecifiedMatching +MONDO:0014459 skos:exactMatch OMIM:616028 adams-oliver syndrome 5 semapv:UnspecifiedMatching +MONDO:0014460 skos:exactMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:UnspecifiedMatching +MONDO:0014461 skos:exactMatch OMIM:616030 hypogonadotropic hypogonadism 22 with or without anosmia semapv:UnspecifiedMatching +MONDO:0014462 skos:exactMatch OMIM:616032 focal segmental glomerulosclerosis 8 semapv:UnspecifiedMatching +MONDO:0014464 skos:exactMatch OMIM:616034 2,4-dienoyl-coa reductase deficiency semapv:UnspecifiedMatching +MONDO:0014465 skos:exactMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:UnspecifiedMatching +MONDO:0014466 skos:exactMatch OMIM:616038 neu-laxova syndrome 2 semapv:UnspecifiedMatching +MONDO:0014467 skos:exactMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:UnspecifiedMatching +MONDO:0014468 skos:exactMatch OMIM:616040 myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014469 skos:exactMatch OMIM:616042 deafness, autosomal recessive 103 semapv:UnspecifiedMatching +MONDO:0014470 skos:exactMatch OMIM:616044 deafness, autosomal dominant 65 semapv:UnspecifiedMatching +MONDO:0014471 skos:exactMatch omim.ps:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0014472 skos:exactMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:UnspecifiedMatching +MONDO:0014473 skos:exactMatch OMIM:616051 microcephaly 13, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014474 skos:exactMatch OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 semapv:UnspecifiedMatching +MONDO:0014475 skos:exactMatch OMIM:616053 spinocerebellar ataxia 40 semapv:UnspecifiedMatching +MONDO:0014476 skos:exactMatch OMIM:616055 episodic ataxia, iia 8 semapv:UnspecifiedMatching +MONDO:0014477 skos:exactMatch OMIM:616056 developmental and epileptic encephalopathy 26 semapv:UnspecifiedMatching +MONDO:0014478 skos:exactMatch OMIM:616059 mirror movements 3 semapv:UnspecifiedMatching +MONDO:0014479 skos:exactMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic iia semapv:UnspecifiedMatching +MONDO:0014480 skos:exactMatch OMIM:616067 46,xy sex reversal 9 semapv:UnspecifiedMatching +MONDO:0014481 skos:exactMatch OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 semapv:UnspecifiedMatching +MONDO:0014482 skos:exactMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:UnspecifiedMatching +MONDO:0014483 skos:exactMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:UnspecifiedMatching +MONDO:0014484 skos:exactMatch OMIM:616080 microcephaly 12, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014485 skos:exactMatch OMIM:616081 pontocerebellar hypoplasia, iia 1c semapv:UnspecifiedMatching +MONDO:0014486 skos:exactMatch OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0014487 skos:exactMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:UnspecifiedMatching +MONDO:0014488 skos:exactMatch OMIM:616087 iia 2 diabetes 5 semapv:UnspecifiedMatching +MONDO:0014489 skos:exactMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 semapv:UnspecifiedMatching +MONDO:0014490 skos:exactMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:UnspecifiedMatching +MONDO:0014491 skos:exactMatch OMIM:616098 immunodeficiency 37 semapv:UnspecifiedMatching +MONDO:0014492 skos:exactMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:UnspecifiedMatching +MONDO:0014493 skos:exactMatch OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation semapv:UnspecifiedMatching +MONDO:0014494 skos:exactMatch OMIM:616106 psoriasis 15, pustular, susceptibility to semapv:UnspecifiedMatching +MONDO:0014495 skos:exactMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:UnspecifiedMatching +MONDO:0014496 skos:exactMatch OMIM:616111 mitochondrial complex 3 deficiency, nuclear iia 9 semapv:UnspecifiedMatching +MONDO:0014497 skos:exactMatch OMIM:616113 polyendocrine-polyneuropathy syndrome semapv:UnspecifiedMatching +MONDO:0014498 skos:exactMatch OMIM:616115 familial cold autoinflammatory syndrome 4 semapv:UnspecifiedMatching +MONDO:0014499 skos:exactMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:UnspecifiedMatching +MONDO:0014500 skos:exactMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0014501 skos:exactMatch OMIM:616118 macular degeneration, early-onset semapv:UnspecifiedMatching +MONDO:0014502 skos:exactMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:UnspecifiedMatching +MONDO:0014503 skos:exactMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:UnspecifiedMatching +MONDO:0014504 skos:exactMatch OMIM:616138 perrault syndrome 5 semapv:UnspecifiedMatching +MONDO:0014505 skos:exactMatch OMIM:616139 developmental and epileptic encephalopathy 27 semapv:UnspecifiedMatching +MONDO:0014506 skos:exactMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:UnspecifiedMatching +MONDO:0014507 skos:exactMatch OMIM:616145 catel-manzke syndrome semapv:UnspecifiedMatching +MONDO:0014508 skos:exactMatch OMIM:616151 macular dystrophy, vitelliform, 4 semapv:UnspecifiedMatching +MONDO:0014509 skos:exactMatch OMIM:616152 macular dystrophy, vitelliform, 5 semapv:UnspecifiedMatching +MONDO:0014510 skos:exactMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:UnspecifiedMatching +MONDO:0014511 skos:exactMatch OMIM:616155 charcot-marie-tooth disease, axonal, iia 2s semapv:UnspecifiedMatching +MONDO:0014512 skos:exactMatch OMIM:616158 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties semapv:UnspecifiedMatching +MONDO:0014513 skos:exactMatch OMIM:616165 nemaline myopathy 10 semapv:UnspecifiedMatching +MONDO:0014514 skos:exactMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:UnspecifiedMatching +MONDO:0014515 skos:exactMatch OMIM:616170 macular dystrophy with central cone involvement semapv:UnspecifiedMatching +MONDO:0014516 skos:exactMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:UnspecifiedMatching +MONDO:0014517 skos:exactMatch OMIM:616172 generalized epilepsy with febrile seizures plus, iia 9 semapv:UnspecifiedMatching +MONDO:0014518 skos:exactMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:UnspecifiedMatching +MONDO:0014519 skos:exactMatch OMIM:616182 chronic mountain sickness, susceptibility to semapv:UnspecifiedMatching +MONDO:0014520 skos:exactMatch OMIM:616185 ovarian dysgenesis 4 semapv:UnspecifiedMatching +MONDO:0014521 skos:exactMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:UnspecifiedMatching +MONDO:0014522 skos:exactMatch OMIM:616188 retinal dystrophy and obesity semapv:UnspecifiedMatching +MONDO:0014523 skos:exactMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:UnspecifiedMatching +MONDO:0014524 skos:exactMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:UnspecifiedMatching +MONDO:0014525 skos:exactMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:UnspecifiedMatching +MONDO:0014526 skos:exactMatch OMIM:616199 polyglucosan body myopathy 2 semapv:UnspecifiedMatching +MONDO:0014527 skos:exactMatch OMIM:616200 ruijs-aalfs syndrome semapv:UnspecifiedMatching +MONDO:0014528 skos:exactMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:UnspecifiedMatching +MONDO:0014529 skos:exactMatch OMIM:616202 cerebellofaciodental syndrome semapv:UnspecifiedMatching +MONDO:0014530 skos:exactMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:UnspecifiedMatching +MONDO:0014531 skos:exactMatch OMIM:616208 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0014532 skos:exactMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014533 skos:exactMatch OMIM:616211 developmental and epileptic encephalopathy 28 semapv:UnspecifiedMatching +MONDO:0014534 skos:exactMatch OMIM:616212 lissencephaly 6 with microcephaly semapv:UnspecifiedMatching +MONDO:0014535 skos:exactMatch OMIM:616214 hyperproinsulinemia semapv:UnspecifiedMatching +MONDO:0014536 skos:exactMatch OMIM:616216 thrombocytopenia 5 semapv:UnspecifiedMatching +MONDO:0014537 skos:exactMatch OMIM:616217 nephronophthisis 19 semapv:UnspecifiedMatching +MONDO:0014538 skos:exactMatch OMIM:616219 fibrosis of extraocular muscles, congenital, 5 semapv:UnspecifiedMatching +MONDO:0014539 skos:exactMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:UnspecifiedMatching +MONDO:0014540 skos:exactMatch OMIM:616221 amelogenesis imperfecta, iia 1h semapv:UnspecifiedMatching +MONDO:0014541 skos:exactMatch OMIM:616222 temple syndrome semapv:UnspecifiedMatching +MONDO:0014542 skos:exactMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:UnspecifiedMatching +MONDO:0014543 skos:exactMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:UnspecifiedMatching +MONDO:0014544 skos:exactMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:UnspecifiedMatching +MONDO:0014545 skos:exactMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:UnspecifiedMatching +MONDO:0014546 skos:exactMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:UnspecifiedMatching +MONDO:0014547 skos:exactMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:UnspecifiedMatching +MONDO:0014548 skos:exactMatch OMIM:616247 long qt syndrome 14 semapv:UnspecifiedMatching +MONDO:0014549 skos:exactMatch OMIM:616248 lethal congenital contracture syndrome 6 semapv:UnspecifiedMatching +MONDO:0014550 skos:exactMatch OMIM:616249 long qt syndrome 15 semapv:UnspecifiedMatching +MONDO:0014551 skos:exactMatch OMIM:616255 short stature with nonspecific skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0014552 skos:exactMatch OMIM:616258 meckel syndrome 12 semapv:UnspecifiedMatching +MONDO:0014553 skos:exactMatch OMIM:616260 tenorio syndrome semapv:UnspecifiedMatching +MONDO:0014555 skos:exactMatch OMIM:616265 peeling skin syndrome 3 semapv:UnspecifiedMatching +MONDO:0014556 skos:exactMatch OMIM:616266 congenital contractures of the limbs and face, hypotonia, and developmental delay semapv:UnspecifiedMatching +MONDO:0014557 skos:exactMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:UnspecifiedMatching +MONDO:0014558 skos:exactMatch OMIM:616268 arboleda-tham syndrome semapv:UnspecifiedMatching +MONDO:0014559 skos:exactMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:UnspecifiedMatching +MONDO:0014560 skos:exactMatch OMIM:616270 amelogenesis imperfecta, iia 1f semapv:UnspecifiedMatching +MONDO:0014561 skos:exactMatch OMIM:616271 3-methylglutaconic aciduria, iia 7b semapv:UnspecifiedMatching +MONDO:0014562 skos:exactMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:UnspecifiedMatching +MONDO:0014563 skos:exactMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:UnspecifiedMatching +MONDO:0014564 skos:exactMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:UnspecifiedMatching +MONDO:0014565 skos:exactMatch OMIM:616279 cataract 43 semapv:UnspecifiedMatching +MONDO:0014566 skos:exactMatch OMIM:616280 charcot-marie-tooth disease, axonal, iia 2u semapv:UnspecifiedMatching +MONDO:0014567 skos:exactMatch OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:UnspecifiedMatching +MONDO:0014568 skos:exactMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014569 skos:exactMatch OMIM:616286 lethal congenital contracture syndrome 7 semapv:UnspecifiedMatching +MONDO:0014570 skos:exactMatch OMIM:616287 lethal congenital contracture syndrome 8 semapv:UnspecifiedMatching +MONDO:0014571 skos:exactMatch OMIM:616289 optic atrophy 9 semapv:UnspecifiedMatching +MONDO:0014572 skos:exactMatch OMIM:616291 lichtenstein-knorr syndrome semapv:UnspecifiedMatching +MONDO:0014573 skos:exactMatch OMIM:616294 cole-carpenter syndrome 2 semapv:UnspecifiedMatching +MONDO:0014574 skos:exactMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:UnspecifiedMatching +MONDO:0014575 skos:exactMatch OMIM:616298 singleton-merten syndrome 2 semapv:UnspecifiedMatching +MONDO:0014576 skos:exactMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:UnspecifiedMatching +MONDO:0014577 skos:exactMatch OMIM:616300 short-rib thoracic dysplasia 13 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0014578 skos:exactMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:UnspecifiedMatching +MONDO:0014579 skos:exactMatch OMIM:616307 senior-loken syndrome 8 semapv:UnspecifiedMatching +MONDO:0014580 skos:exactMatch OMIM:616311 intellectual developmental disorder, autosomal dominant 33 semapv:UnspecifiedMatching +MONDO:0014581 skos:exactMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:UnspecifiedMatching +MONDO:0014582 skos:exactMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching +MONDO:0014583 skos:exactMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:UnspecifiedMatching +MONDO:0014584 skos:exactMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:UnspecifiedMatching +MONDO:0014585 skos:exactMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching +MONDO:0014586 skos:exactMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:UnspecifiedMatching +MONDO:0014587 skos:exactMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching +MONDO:0014588 skos:exactMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching +MONDO:0014589 skos:exactMatch OMIM:616329 maturity-onset diabetes of the young, iia 13 semapv:UnspecifiedMatching +MONDO:0014590 skos:exactMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:UnspecifiedMatching +MONDO:0014591 skos:exactMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0014592 skos:exactMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:UnspecifiedMatching +MONDO:0014593 skos:exactMatch OMIM:616339 developmental and epileptic encephalopathy 29 semapv:UnspecifiedMatching +MONDO:0014594 skos:exactMatch OMIM:616340 deafness, autosomal dominant 67 semapv:UnspecifiedMatching +MONDO:0014595 skos:exactMatch OMIM:616341 developmental and epileptic encephalopathy 30 semapv:UnspecifiedMatching +MONDO:0014596 skos:exactMatch OMIM:616342 lissencephaly 7 with cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0014597 skos:exactMatch OMIM:616345 immunodeficiency 39 semapv:UnspecifiedMatching +MONDO:0014598 skos:exactMatch OMIM:616346 developmental and epileptic encephalopathy 31a semapv:UnspecifiedMatching +MONDO:0014599 skos:exactMatch OMIM:616351 intellectual developmental disorder, autosomal dominant 34 semapv:UnspecifiedMatching +MONDO:0014600 skos:exactMatch OMIM:616353 dyskeratosis congenita, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0014601 skos:exactMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:UnspecifiedMatching +MONDO:0014602 skos:exactMatch OMIM:616355 houge-janssens syndrome 1 semapv:UnspecifiedMatching +MONDO:0014603 skos:exactMatch OMIM:616357 deafness, autosomal dominant 40 semapv:UnspecifiedMatching +MONDO:0014604 skos:exactMatch OMIM:616361 parkinson disease 21 semapv:UnspecifiedMatching +MONDO:0014605 skos:exactMatch OMIM:616362 houge-janssens syndrome 2 semapv:UnspecifiedMatching +MONDO:0014606 skos:exactMatch OMIM:616364 white-sutton syndrome semapv:UnspecifiedMatching +MONDO:0014607 skos:exactMatch OMIM:616366 developmental and epileptic encephalopathy 32 semapv:UnspecifiedMatching +MONDO:0014608 skos:exactMatch OMIM:616367 mandibulofacial dysostosis with alopecia semapv:UnspecifiedMatching +MONDO:0014609 skos:exactMatch OMIM:616368 chops syndrome semapv:UnspecifiedMatching +MONDO:0014611 skos:exactMatch OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 semapv:UnspecifiedMatching +MONDO:0014612 skos:exactMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 semapv:UnspecifiedMatching +MONDO:0014613 skos:exactMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 semapv:UnspecifiedMatching +MONDO:0014614 skos:exactMatch OMIM:616389 night blindness, congenital stationary, iia 1g semapv:UnspecifiedMatching +MONDO:0014615 skos:exactMatch OMIM:616390 trichothiodystrophy 2, photosensitive semapv:UnspecifiedMatching +MONDO:0014616 skos:exactMatch OMIM:616392 skint1-like pseudogene semapv:UnspecifiedMatching +MONDO:0014617 skos:exactMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:UnspecifiedMatching +MONDO:0014618 skos:exactMatch OMIM:616394 retinitis pigmentosa 71 semapv:UnspecifiedMatching +MONDO:0014619 skos:exactMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:UnspecifiedMatching +MONDO:0014620 skos:exactMatch OMIM:616398 dystonia 26, myoclonic semapv:UnspecifiedMatching +MONDO:0014621 skos:exactMatch OMIM:616399 brugada syndrome 9 semapv:UnspecifiedMatching +MONDO:0014622 skos:exactMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:UnspecifiedMatching +MONDO:0014623 skos:exactMatch OMIM:616402 microcephaly 14, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014624 skos:exactMatch OMIM:616407 brown syndrome semapv:UnspecifiedMatching +MONDO:0014625 skos:exactMatch OMIM:616409 developmental and epileptic encephalopathy 33 semapv:UnspecifiedMatching +MONDO:0014626 skos:exactMatch OMIM:616410 spinocerebellar ataxia 41 semapv:UnspecifiedMatching +MONDO:0014627 skos:exactMatch OMIM:616411 dystonia 27 semapv:UnspecifiedMatching +MONDO:0014628 skos:exactMatch OMIM:616413 basal ganglia calcification, idiopathic, 6 semapv:UnspecifiedMatching +MONDO:0014629 skos:exactMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:UnspecifiedMatching +MONDO:0014630 skos:exactMatch OMIM:616415 familial adenomatous polyposis 3 semapv:UnspecifiedMatching +MONDO:0014631 skos:exactMatch omim.ps:616418 Hypomagnesemia, seizures, and mental retardation semapv:UnspecifiedMatching +MONDO:0014632 skos:exactMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:UnspecifiedMatching +MONDO:0014633 skos:exactMatch OMIM:616421 myoclonic-atonic epilepsy semapv:UnspecifiedMatching +MONDO:0014634 skos:exactMatch OMIM:616425 46,xy sex reversal 10 semapv:UnspecifiedMatching +MONDO:0014635 skos:exactMatch OMIM:616428 microphthalmia, isolated, with coloboma 10 semapv:UnspecifiedMatching +MONDO:0014636 skos:exactMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:UnspecifiedMatching +MONDO:0014637 skos:exactMatch OMIM:616433 immunodeficiency 40 semapv:UnspecifiedMatching +MONDO:0014638 skos:exactMatch OMIM:616435 fanconi anemia, complementation group t semapv:UnspecifiedMatching +MONDO:0014639 skos:exactMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:UnspecifiedMatching +MONDO:0014640 skos:exactMatch OMIM:616437 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 semapv:UnspecifiedMatching +MONDO:0014641 skos:exactMatch OMIM:616439 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 semapv:UnspecifiedMatching +MONDO:0014642 skos:exactMatch OMIM:616445 candidiasis, familial, 9 semapv:UnspecifiedMatching +MONDO:0014643 skos:exactMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:UnspecifiedMatching +MONDO:0014644 skos:exactMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014645 skos:exactMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:UnspecifiedMatching +MONDO:0014646 skos:exactMatch OMIM:616455 zimmermann-laband syndrome 2 semapv:UnspecifiedMatching +MONDO:0014647 skos:exactMatch OMIM:616457 developmental and epileptic encephalopathy 50 semapv:UnspecifiedMatching +MONDO:0014648 skos:exactMatch OMIM:616459 al-raqad syndrome semapv:UnspecifiedMatching +MONDO:0014649 skos:exactMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:UnspecifiedMatching +MONDO:0014650 skos:exactMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:UnspecifiedMatching +MONDO:0014651 skos:exactMatch OMIM:616462 acrofacial dysostosis, cincinnati iia semapv:UnspecifiedMatching +MONDO:0014652 skos:exactMatch OMIM:616468 exudative vitreoretinopathy 6 semapv:UnspecifiedMatching +MONDO:0014653 skos:exactMatch OMIM:616469 retinitis pigmentosa 72 semapv:UnspecifiedMatching +MONDO:0014654 skos:exactMatch OMIM:616470 ullrich congenital muscular dystrophy 2 semapv:UnspecifiedMatching +MONDO:0014656 skos:exactMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0014657 skos:exactMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:UnspecifiedMatching +MONDO:0014658 skos:exactMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:UnspecifiedMatching +MONDO:0014659 skos:exactMatch OMIM:616483 infantile liver failure syndrome 2 semapv:UnspecifiedMatching +MONDO:0014660 skos:exactMatch OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities semapv:UnspecifiedMatching +MONDO:0014661 skos:exactMatch OMIM:616487 epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014662 skos:exactMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, iia 8 semapv:UnspecifiedMatching +MONDO:0014663 skos:exactMatch OMIM:616489 silver-russell syndrome 3 semapv:UnspecifiedMatching +MONDO:0014664 skos:exactMatch OMIM:616490 joubert syndrome 23 semapv:UnspecifiedMatching +MONDO:0014665 skos:exactMatch OMIM:616491 charcot-marie-tooth disease, axonal, iia 2v semapv:UnspecifiedMatching +MONDO:0014666 skos:exactMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:UnspecifiedMatching +MONDO:0014667 skos:exactMatch OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 semapv:UnspecifiedMatching +MONDO:0014668 skos:exactMatch OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 semapv:UnspecifiedMatching +MONDO:0014669 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:UnspecifiedMatching +MONDO:0014670 skos:exactMatch OMIM:616503 lethal congenital contracture syndrome 9 semapv:UnspecifiedMatching +MONDO:0014671 skos:exactMatch OMIM:616505 neuropathy, hereditary motor and sensory, iia vib, with optic atrophy semapv:UnspecifiedMatching +MONDO:0014672 skos:exactMatch OMIM:616507 osteogenesis imperfecta, iia 17 semapv:UnspecifiedMatching +MONDO:0014673 skos:exactMatch OMIM:616509 cataract 44 semapv:UnspecifiedMatching +MONDO:0014674 skos:exactMatch OMIM:616511 maturity-onset diabetes of the young, iia 14 semapv:UnspecifiedMatching +MONDO:0014675 skos:exactMatch OMIM:616515 deafness, autosomal recessive 104 semapv:UnspecifiedMatching +MONDO:0014676 skos:exactMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014677 skos:exactMatch OMIM:616517 achromatopsia 7 semapv:UnspecifiedMatching +MONDO:0014678 skos:exactMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:UnspecifiedMatching +MONDO:0014679 skos:exactMatch OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0014680 skos:exactMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0014681 skos:exactMatch OMIM:616534 thyroid cancer, nonmedullary, 4 semapv:UnspecifiedMatching +MONDO:0014682 skos:exactMatch OMIM:616535 thyroid cancer, nonmedullary, 5 semapv:UnspecifiedMatching +MONDO:0014683 skos:exactMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 semapv:UnspecifiedMatching +MONDO:0014684 skos:exactMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:UnspecifiedMatching +MONDO:0014685 skos:exactMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:UnspecifiedMatching +MONDO:0014686 skos:exactMatch OMIM:616541 short stature, microcephaly, and endocrine dysfunction semapv:UnspecifiedMatching +MONDO:0014687 skos:exactMatch OMIM:616544 retinitis pigmentosa 73 semapv:UnspecifiedMatching +MONDO:0014688 skos:exactMatch OMIM:616546 short-rib thoracic dysplasia 14 with polydactyly semapv:UnspecifiedMatching +MONDO:0014689 skos:exactMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:UnspecifiedMatching +MONDO:0014690 skos:exactMatch OMIM:616553 dyskeratosis congenita, autosomal dominant 6 semapv:UnspecifiedMatching +MONDO:0014691 skos:exactMatch OMIM:616559 noonan syndrome 9 semapv:UnspecifiedMatching +MONDO:0014692 skos:exactMatch OMIM:616562 retinitis pigmentosa 74 semapv:UnspecifiedMatching +MONDO:0014693 skos:exactMatch OMIM:616564 noonan syndrome 10 semapv:UnspecifiedMatching +MONDO:0014694 skos:exactMatch OMIM:616566 spondylocostal dysostosis 6, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014696 skos:exactMatch OMIM:616570 cerebrooculofacioskeletal syndrome 3 semapv:UnspecifiedMatching +MONDO:0014697 skos:exactMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:UnspecifiedMatching +MONDO:0014698 skos:exactMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0014699 skos:exactMatch OMIM:616579 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features semapv:UnspecifiedMatching +MONDO:0014700 skos:exactMatch OMIM:616580 au-kline syndrome semapv:UnspecifiedMatching +MONDO:0014701 skos:exactMatch OMIM:616583 spondyloepiphyseal dysplasia, stanescu iia semapv:UnspecifiedMatching +MONDO:0014702 skos:exactMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014703 skos:exactMatch OMIM:616589 adams-oliver syndrome 6 semapv:UnspecifiedMatching +MONDO:0014704 skos:exactMatch OMIM:616592 kosaki overgrowth syndrome semapv:UnspecifiedMatching +MONDO:0014705 skos:exactMatch OMIM:616602 craniosynostosis 6 semapv:UnspecifiedMatching +MONDO:0014706 skos:exactMatch OMIM:616603 cutis laxa, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0014707 skos:exactMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:UnspecifiedMatching +MONDO:0014708 skos:exactMatch OMIM:616606 ring chromosome 14 syndrome semapv:UnspecifiedMatching +MONDO:0014709 skos:exactMatch OMIM:616617 heimler syndrome 2 semapv:UnspecifiedMatching +MONDO:0014710 skos:exactMatch OMIM:616622 immunodeficiency 42 semapv:UnspecifiedMatching +MONDO:0014711 skos:exactMatch OMIM:616625 charcot-marie-tooth disease, axonal, iia 2w semapv:UnspecifiedMatching +MONDO:0014712 skos:exactMatch OMIM:616629 senior-loken syndrome 9 semapv:UnspecifiedMatching +MONDO:0014713 skos:exactMatch OMIM:616631 porokeratosis 9, multiple types semapv:UnspecifiedMatching +MONDO:0014714 skos:exactMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:UnspecifiedMatching +MONDO:0014715 skos:exactMatch OMIM:616636 immunodeficiency 44 semapv:UnspecifiedMatching +MONDO:0014716 skos:exactMatch OMIM:616638 smith-kingsmore syndrome semapv:UnspecifiedMatching +MONDO:0014717 skos:exactMatch OMIM:616640 epilepsy, progressive myoclonic, 10 semapv:UnspecifiedMatching +MONDO:0014718 skos:exactMatch OMIM:616645 developmental and epileptic encephalopathy 34 semapv:UnspecifiedMatching +MONDO:0014719 skos:exactMatch OMIM:616647 developmental and epileptic encephalopathy 35 semapv:UnspecifiedMatching +MONDO:0014722 skos:exactMatch OMIM:616651 roifman syndrome semapv:UnspecifiedMatching +MONDO:0014723 skos:exactMatch OMIM:616652 yuan-harel-lupski syndrome semapv:UnspecifiedMatching +MONDO:0014724 skos:exactMatch OMIM:616654 joubert syndrome 24 semapv:UnspecifiedMatching +MONDO:0014725 skos:exactMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:UnspecifiedMatching +MONDO:0014726 skos:exactMatch OMIM:616668 charcot-marie-tooth disease, axonal, iia 2x semapv:UnspecifiedMatching +MONDO:0014727 skos:exactMatch OMIM:616669 immunodeficiency 45 semapv:UnspecifiedMatching +MONDO:0014728 skos:exactMatch OMIM:616672 combined oxidative phosphorylation deficiency 27 semapv:UnspecifiedMatching +MONDO:0014729 skos:exactMatch OMIM:616680 spastic paraplegia 75, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014730 skos:exactMatch OMIM:616681 microcephaly 16, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014731 skos:exactMatch OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome semapv:UnspecifiedMatching +MONDO:0014732 skos:exactMatch OMIM:616683 leukodystrophy, hypomyelinating, 12 semapv:UnspecifiedMatching +MONDO:0014733 skos:exactMatch OMIM:616684 charcot-marie-tooth disease, iia 4k semapv:UnspecifiedMatching +MONDO:0014734 skos:exactMatch OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 semapv:UnspecifiedMatching +MONDO:0014735 skos:exactMatch OMIM:616687 charcot-marie-tooth disease, axonal, iia 2y semapv:UnspecifiedMatching +MONDO:0014736 skos:exactMatch OMIM:616688 charcot-marie-tooth disease, axonal, iia 2z semapv:UnspecifiedMatching +MONDO:0014737 skos:exactMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:UnspecifiedMatching +MONDO:0014738 skos:exactMatch OMIM:616697 deafness, autosomal dominant 69 semapv:UnspecifiedMatching +MONDO:0014739 skos:exactMatch OMIM:616705 deafness, autosomal recessive 97 semapv:UnspecifiedMatching +MONDO:0014740 skos:exactMatch OMIM:616707 deafness, autosomal dominant 68 semapv:UnspecifiedMatching +MONDO:0014741 skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:UnspecifiedMatching +MONDO:0014742 skos:exactMatch OMIM:616710 parkinson disease 22, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014743 skos:exactMatch OMIM:616716 rhizomelic chondrodysplasia punctata, iia 5 semapv:UnspecifiedMatching +MONDO:0014744 skos:exactMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:UnspecifiedMatching +MONDO:0014745 skos:exactMatch OMIM:616720 myasthenic syndrome, congenital, 19 semapv:UnspecifiedMatching +MONDO:0014746 skos:exactMatch OMIM:616721 congenital disorder of glycosylation, iia iin semapv:UnspecifiedMatching +MONDO:0014747 skos:exactMatch OMIM:616722 retinal dystrophy and iris coloboma with or without cataract semapv:UnspecifiedMatching +MONDO:0014748 skos:exactMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia semapv:UnspecifiedMatching +MONDO:0014749 skos:exactMatch OMIM:616724 tooth agenesis, selective, 7 semapv:UnspecifiedMatching +MONDO:0014750 skos:exactMatch OMIM:616726 ciliary dyskinesia, primary, 33 semapv:UnspecifiedMatching +MONDO:0014751 skos:exactMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:UnspecifiedMatching +MONDO:0014752 skos:exactMatch OMIM:616730 nephrotic syndrome, iia 11 semapv:UnspecifiedMatching +MONDO:0014754 skos:exactMatch OMIM:616733 coenzyme Q10 deficiency, primary, 8 semapv:UnspecifiedMatching +MONDO:0014755 skos:exactMatch OMIM:616734 skin creases, congenital symmetric circumferential, 2 semapv:UnspecifiedMatching +MONDO:0014756 skos:exactMatch OMIM:616736 tremor, hereditary essential, 5 semapv:UnspecifiedMatching +MONDO:0014757 skos:exactMatch OMIM:616737 takenouchi-kosaki syndrome semapv:UnspecifiedMatching +MONDO:0014758 skos:exactMatch OMIM:616738 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 semapv:UnspecifiedMatching +MONDO:0014759 skos:exactMatch OMIM:616739 intellectual developmental disorder, autosomal recessive 51 semapv:UnspecifiedMatching +MONDO:0014760 skos:exactMatch OMIM:616740 immunodeficiency 46 semapv:UnspecifiedMatching +MONDO:0014762 skos:exactMatch OMIM:616749 heterotaxy, visceral, 7, autosomal semapv:UnspecifiedMatching +MONDO:0014763 skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching +MONDO:0014764 skos:exactMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:UnspecifiedMatching +MONDO:0014765 skos:exactMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0014766 skos:exactMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:UnspecifiedMatching +MONDO:0014767 skos:exactMatch OMIM:616777 seckel syndrome 9 semapv:UnspecifiedMatching +MONDO:0014768 skos:exactMatch OMIM:616779 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 2 semapv:UnspecifiedMatching +MONDO:0014769 skos:exactMatch omim.ps:615774 Oocyte/zygote/embryo maturation arrest semapv:UnspecifiedMatching +MONDO:0014770 skos:exactMatch OMIM:616781 joubert syndrome 25 semapv:UnspecifiedMatching +MONDO:0014771 skos:exactMatch OMIM:616784 joubert syndrome 26 semapv:UnspecifiedMatching +MONDO:0014772 skos:exactMatch OMIM:616788 orofacial cleft 15 semapv:UnspecifiedMatching +MONDO:0014773 skos:exactMatch OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects semapv:UnspecifiedMatching +MONDO:0014774 skos:exactMatch OMIM:616792 neuroblastoma, susceptibility to, 7 semapv:UnspecifiedMatching +MONDO:0014775 skos:exactMatch OMIM:616794 combined oxidative phosphorylation deficiency 28 semapv:UnspecifiedMatching +MONDO:0014776 skos:exactMatch OMIM:616795 spinocerebellar ataxia 42 semapv:UnspecifiedMatching +MONDO:0014777 skos:exactMatch OMIM:616801 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 semapv:UnspecifiedMatching +MONDO:0014778 skos:exactMatch OMIM:616803 lamb-shaffer syndrome semapv:UnspecifiedMatching +MONDO:0014779 skos:exactMatch OMIM:616806 wilms tumor 6 semapv:UnspecifiedMatching +MONDO:0014780 skos:exactMatch OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:UnspecifiedMatching +MONDO:0014781 skos:exactMatch OMIM:616811 combined oxidative phosphorylation deficiency 29 semapv:UnspecifiedMatching +MONDO:0014782 skos:exactMatch OMIM:616812 muscular dystrophy, limb-girdle, autosomal recessive 25 semapv:UnspecifiedMatching +MONDO:0014783 skos:exactMatch OMIM:616814 oocyte/zygote/embryo maturation arrest 15 semapv:UnspecifiedMatching +MONDO:0014784 skos:exactMatch OMIM:616816 hypotonia, infantile, with psychomotor retardation semapv:UnspecifiedMatching +MONDO:0014785 skos:exactMatch OMIM:616817 microcephaly, short stature, and impaired glucose metabolism 2 semapv:UnspecifiedMatching +MONDO:0014786 skos:exactMatch OMIM:616818 iga nephropathy, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0014787 skos:exactMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0014788 skos:exactMatch OMIM:616827 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue semapv:UnspecifiedMatching +MONDO:0014789 skos:exactMatch OMIM:616828 congenital disorder of glycosylation, iia iio semapv:UnspecifiedMatching +MONDO:0014790 skos:exactMatch OMIM:616829 congenital disorder of glycosylation, iia iip semapv:UnspecifiedMatching +MONDO:0014791 skos:exactMatch OMIM:616831 luscan-lumish syndrome semapv:UnspecifiedMatching +MONDO:0014792 skos:exactMatch OMIM:616833 paget disease of bone 6 semapv:UnspecifiedMatching +MONDO:0014793 skos:exactMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:UnspecifiedMatching +MONDO:0014794 skos:exactMatch OMIM:616835 meier-gorlin syndrome 6 semapv:UnspecifiedMatching +MONDO:0014795 skos:exactMatch OMIM:616839 exercise intolerance, riboflavin-responsive semapv:UnspecifiedMatching +MONDO:0014796 skos:exactMatch OMIM:616840 parkinson disease 23, autosomal recessive early-onset semapv:UnspecifiedMatching +MONDO:0014797 skos:exactMatch OMIM:616843 lymphatic malformation 6 semapv:UnspecifiedMatching +MONDO:0014798 skos:exactMatch OMIM:616849 brachydactyly, iia a1, d semapv:UnspecifiedMatching +MONDO:0014799 skos:exactMatch OMIM:616851 cataract 45 semapv:UnspecifiedMatching +MONDO:0014800 skos:exactMatch OMIM:616852 myopathy, scapulohumeroperoneal semapv:UnspecifiedMatching +MONDO:0014801 skos:exactMatch OMIM:616854 even-plus syndrome semapv:UnspecifiedMatching +MONDO:0014802 skos:exactMatch OMIM:616858 cowden syndrome 7 semapv:UnspecifiedMatching +MONDO:0014803 skos:exactMatch OMIM:616859 spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching +MONDO:0014804 skos:exactMatch OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching +MONDO:0014805 skos:exactMatch OMIM:616863 hao-fountain syndrome semapv:UnspecifiedMatching +MONDO:0014806 skos:exactMatch OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 semapv:UnspecifiedMatching +MONDO:0014807 skos:exactMatch OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 semapv:UnspecifiedMatching +MONDO:0014808 skos:exactMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:UnspecifiedMatching +MONDO:0014809 skos:exactMatch OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to semapv:UnspecifiedMatching +MONDO:0014810 skos:exactMatch OMIM:616873 immunodeficiency, common variable, 13 semapv:UnspecifiedMatching +MONDO:0014811 skos:exactMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:UnspecifiedMatching +MONDO:0014813 skos:exactMatch OMIM:616881 leukodystrophy, hypomyelinating, 13 semapv:UnspecifiedMatching +MONDO:0014814 skos:exactMatch OMIM:616882 advanced sleep phase syndrome, familial, 3 semapv:UnspecifiedMatching +MONDO:0014815 skos:exactMatch OMIM:616887 intellectual developmental disorder, autosomal recessive 52 semapv:UnspecifiedMatching +MONDO:0014816 skos:exactMatch OMIM:616890 split-foot malformation with mesoaxial polydactyly semapv:UnspecifiedMatching +MONDO:0014817 skos:exactMatch OMIM:616892 nephrotic syndrome, iia 12 semapv:UnspecifiedMatching +MONDO:0014818 skos:exactMatch OMIM:616893 nephrotic syndrome, iia 13 semapv:UnspecifiedMatching +MONDO:0014819 skos:exactMatch OMIM:616894 robinow syndrome, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0014820 skos:exactMatch OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) semapv:UnspecifiedMatching +MONDO:0014821 skos:exactMatch OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia semapv:UnspecifiedMatching +MONDO:0014822 skos:exactMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:UnspecifiedMatching +MONDO:0014823 skos:exactMatch OMIM:616900 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 semapv:UnspecifiedMatching +MONDO:0014825 skos:exactMatch OMIM:616902 chromosome 11p13 deletion syndrome, distal semapv:UnspecifiedMatching +MONDO:0014826 skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching +MONDO:0014827 skos:exactMatch OMIM:616907 spastic paraplegia 76, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014828 skos:exactMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:UnspecifiedMatching +MONDO:0014829 skos:exactMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:UnspecifiedMatching +MONDO:0014830 skos:exactMatch OMIM:616913 bleeding disorder, platelet-type, 20 semapv:UnspecifiedMatching +MONDO:0014831 skos:exactMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:UnspecifiedMatching +MONDO:0014832 skos:exactMatch OMIM:616917 neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy semapv:UnspecifiedMatching +MONDO:0014833 skos:exactMatch OMIM:616920 heart and brain malformation syndrome semapv:UnspecifiedMatching +MONDO:0014835 skos:exactMatch OMIM:616922 striatal degeneration, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0014836 skos:exactMatch OMIM:616924 charcot-marie-tooth disease, axonal, iia 2cc semapv:UnspecifiedMatching +MONDO:0014837 skos:exactMatch OMIM:616937 thrombocytopenia 6 semapv:UnspecifiedMatching +MONDO:0014838 skos:exactMatch OMIM:616938 coffin-siris syndrome 5 semapv:UnspecifiedMatching +MONDO:0014839 skos:exactMatch OMIM:616939 chorea, childhood-onset, with psychomotor retardation semapv:UnspecifiedMatching +MONDO:0014840 skos:exactMatch OMIM:616941 agammaglobulinemia 8a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014841 skos:exactMatch OMIM:616943 trichothiodystrophy 6, nonphotosensitive semapv:UnspecifiedMatching +MONDO:0014842 skos:exactMatch OMIM:616944 intellectual developmental disorder, autosomal dominant 41 semapv:UnspecifiedMatching +MONDO:0014843 skos:exactMatch OMIM:616946 premature ovarian failure 11 semapv:UnspecifiedMatching +MONDO:0014844 skos:exactMatch OMIM:616947 premature ovarian failure 12 semapv:UnspecifiedMatching +MONDO:0014845 skos:exactMatch OMIM:616948 spinocerebellar ataxia, autosomal recessive 22 semapv:UnspecifiedMatching +MONDO:0014846 skos:exactMatch OMIM:616949 spinocerebellar ataxia, autosomal recessive 23 semapv:UnspecifiedMatching +MONDO:0014847 skos:exactMatch OMIM:616950 spermatogenic failure 15 semapv:UnspecifiedMatching +MONDO:0014848 skos:exactMatch OMIM:616954 you-hoover-fong syndrome semapv:UnspecifiedMatching +MONDO:0014849 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching +MONDO:0014850 skos:exactMatch OMIM:616959 retinitis pigmentosa and erythrocytic microcytosis semapv:UnspecifiedMatching +MONDO:0014851 skos:exactMatch OMIM:616963 hypercalcemia, infantile, 2 semapv:UnspecifiedMatching +MONDO:0014853 skos:exactMatch OMIM:616968 deafness, autosomal dominant 70 semapv:UnspecifiedMatching +MONDO:0014854 skos:exactMatch OMIM:616969 deafness, autosomal dominant 66 semapv:UnspecifiedMatching +MONDO:0014855 skos:exactMatch OMIM:616973 intellectual developmental disorder, autosomal dominant 42 semapv:UnspecifiedMatching +MONDO:0014856 skos:exactMatch OMIM:616974 combined oxidative phosphorylation deficiency 30 semapv:UnspecifiedMatching +MONDO:0014857 skos:exactMatch OMIM:616975 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart semapv:UnspecifiedMatching +MONDO:0014858 skos:exactMatch OMIM:616977 intellectual developmental disorder, autosomal dominant 43 semapv:UnspecifiedMatching +MONDO:0014859 skos:exactMatch OMIM:616981 developmental and epileptic encephalopathy 37 semapv:UnspecifiedMatching +MONDO:0014860 skos:exactMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:UnspecifiedMatching +MONDO:0014861 skos:exactMatch OMIM:617006 autoimmune disease, multisystem, infantile-onset, 2 semapv:UnspecifiedMatching +MONDO:0014862 skos:exactMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:UnspecifiedMatching +MONDO:0014863 skos:exactMatch OMIM:617011 macrocephaly, dysmorphic facies, and psychomotor retardation semapv:UnspecifiedMatching +MONDO:0014864 skos:exactMatch OMIM:617013 hypermanganesemia with dystonia 2 semapv:UnspecifiedMatching +MONDO:0014865 skos:exactMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014866 skos:exactMatch OMIM:617017 charcot-marie-tooth disease, axonal, iia 2t semapv:UnspecifiedMatching +MONDO:0014867 skos:exactMatch OMIM:617018 spinocerebellar ataxia 43 semapv:UnspecifiedMatching +MONDO:0014868 skos:exactMatch OMIM:617020 developmental and epileptic encephalopathy 38 semapv:UnspecifiedMatching +MONDO:0014869 skos:exactMatch OMIM:617021 hydrops, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching +MONDO:0014870 skos:exactMatch OMIM:617022 lethal congenital contracture syndrome 10 semapv:UnspecifiedMatching +MONDO:0014871 skos:exactMatch OMIM:617023 retinitis pigmentosa 75 semapv:UnspecifiedMatching +MONDO:0014872 skos:exactMatch OMIM:617024 night blindness, congenital stationary, iia 1h semapv:UnspecifiedMatching +MONDO:0014873 skos:exactMatch OMIM:617025 nevus comedonicus semapv:UnspecifiedMatching +MONDO:0014874 skos:exactMatch OMIM:617026 pontocerebellar hypoplasia, iia 2f semapv:UnspecifiedMatching +MONDO:0014875 skos:exactMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:UnspecifiedMatching +MONDO:0014876 skos:exactMatch OMIM:617028 intellectual developmental disorder, autosomal recessive 54 semapv:UnspecifiedMatching +MONDO:0014877 skos:exactMatch OMIM:617030 myopathy, distal, 5 semapv:UnspecifiedMatching +MONDO:0014878 skos:exactMatch OMIM:617035 patent ductus arteriosus 2 semapv:UnspecifiedMatching +MONDO:0014880 skos:exactMatch OMIM:617041 duane retraction syndrome 3 with or without deafness semapv:UnspecifiedMatching +MONDO:0014881 skos:exactMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:UnspecifiedMatching +MONDO:0014882 skos:exactMatch OMIM:617046 spastic paraplegia 77, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014883 skos:exactMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:UnspecifiedMatching +MONDO:0014884 skos:exactMatch OMIM:617049 cholestasis, progressive familial intrahepatic, 5 semapv:UnspecifiedMatching +MONDO:0014885 skos:exactMatch OMIM:617050 hermansky-pudlak syndrome 10 semapv:UnspecifiedMatching +MONDO:0014886 skos:exactMatch OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae semapv:UnspecifiedMatching +MONDO:0014887 skos:exactMatch OMIM:617052 bone marrow failure syndrome 3 semapv:UnspecifiedMatching +MONDO:0014888 skos:exactMatch OMIM:617053 mirage syndrome semapv:UnspecifiedMatching +MONDO:0014889 skos:exactMatch OMIM:617054 striatonigral degeneration, childhood-onset semapv:UnspecifiedMatching +MONDO:0014890 skos:exactMatch OMIM:617055 perching syndrome semapv:UnspecifiedMatching +MONDO:0014891 skos:exactMatch OMIM:617056 tubulointerstitial kidney disease, autosomal dominant, 5 semapv:UnspecifiedMatching +MONDO:0014892 skos:exactMatch OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly semapv:UnspecifiedMatching +MONDO:0014893 skos:exactMatch OMIM:617062 okur-chung neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0014894 skos:exactMatch OMIM:617063 meier-gorlin syndrome 7 semapv:UnspecifiedMatching +MONDO:0014895 skos:exactMatch OMIM:617065 developmental and epileptic encephalopathy 40 semapv:UnspecifiedMatching +MONDO:0014896 skos:exactMatch OMIM:617066 muscular dystrophy, congenital, davignon-chauveau iia semapv:UnspecifiedMatching +MONDO:0014898 skos:exactMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:UnspecifiedMatching +MONDO:0014899 skos:exactMatch OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 semapv:UnspecifiedMatching +MONDO:0014900 skos:exactMatch OMIM:617072 myopathy, autosomal recessive, with rigid spine and distal joint contractures semapv:UnspecifiedMatching +MONDO:0014901 skos:exactMatch OMIM:617073 tooth agenesis, selective, 8 semapv:UnspecifiedMatching +MONDO:0014902 skos:exactMatch OMIM:617075 nasopharyngeal carcinoma, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0014903 skos:exactMatch OMIM:617080 seizures, benign familial infantile, 5 semapv:UnspecifiedMatching +MONDO:0014904 skos:exactMatch OMIM:617082 congenital disorder of glycosylation, iia iaa semapv:UnspecifiedMatching +MONDO:0014905 skos:exactMatch OMIM:617086 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:UnspecifiedMatching +MONDO:0014906 skos:exactMatch OMIM:617087 charcot-marie-tooth disease, axonal, autosomal recessive, iia 2a2b semapv:UnspecifiedMatching +MONDO:0014907 skos:exactMatch OMIM:617088 short-rib thoracic dysplasia 15 with polydactyly semapv:UnspecifiedMatching +MONDO:0014908 skos:exactMatch OMIM:617090 microcephaly 17, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014909 skos:exactMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:UnspecifiedMatching +MONDO:0014910 skos:exactMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:UnspecifiedMatching +MONDO:0014911 skos:exactMatch OMIM:617093 growth retardation, impaired intellectual development, hypotonia, and hepatopathy semapv:UnspecifiedMatching +MONDO:0014912 skos:exactMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:UnspecifiedMatching +MONDO:0014914 skos:exactMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:UnspecifiedMatching +MONDO:0014915 skos:exactMatch OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0014916 skos:exactMatch OMIM:617105 developmental and epileptic encephalopathy 41 semapv:UnspecifiedMatching +MONDO:0014917 skos:exactMatch OMIM:617106 developmental and epileptic encephalopathy 42 semapv:UnspecifiedMatching +MONDO:0014918 skos:exactMatch OMIM:617107 thauvin-robinet-faivre syndrome semapv:UnspecifiedMatching +MONDO:0014919 skos:exactMatch OMIM:617108 sessile serrated polyposis cancer syndrome semapv:UnspecifiedMatching +MONDO:0014920 skos:exactMatch OMIM:617111 macular dystrophy, patterned, 3 semapv:UnspecifiedMatching +MONDO:0014921 skos:exactMatch OMIM:617113 developmental and epileptic encephalopathy 43 semapv:UnspecifiedMatching +MONDO:0014922 skos:exactMatch OMIM:617114 myopathy, myofibrillar, 7 semapv:UnspecifiedMatching +MONDO:0014923 skos:exactMatch OMIM:617115 peeling skin syndrome 5 semapv:UnspecifiedMatching +MONDO:0014924 skos:exactMatch OMIM:617116 epilepsy, familial focal, with variable foci 2 semapv:UnspecifiedMatching +MONDO:0014925 skos:exactMatch OMIM:617118 epilepsy, familial focal, with variable foci 3 semapv:UnspecifiedMatching +MONDO:0014926 skos:exactMatch OMIM:617119 bardet-biedl syndrome 22 semapv:UnspecifiedMatching +MONDO:0014927 skos:exactMatch OMIM:617120 joubert syndrome 27 semapv:UnspecifiedMatching +MONDO:0014928 skos:exactMatch OMIM:617121 joubert syndrome 28 semapv:UnspecifiedMatching +MONDO:0014929 skos:exactMatch OMIM:617123 retinitis pigmentosa 76 semapv:UnspecifiedMatching +MONDO:0014930 skos:exactMatch OMIM:617125 intellectual developmental disorder, autosomal recessive 56 semapv:UnspecifiedMatching +MONDO:0014931 skos:exactMatch OMIM:617126 alazami-yuan syndrome semapv:UnspecifiedMatching +MONDO:0014932 skos:exactMatch OMIM:617127 orofaciodigital syndrome 15 semapv:UnspecifiedMatching +MONDO:0014933 skos:exactMatch OMIM:617132 developmental and epileptic encephalopathy 44 semapv:UnspecifiedMatching +MONDO:0014934 skos:exactMatch OMIM:617133 spinocerebellar ataxia, autosomal recessive 24 semapv:UnspecifiedMatching +MONDO:0014935 skos:exactMatch OMIM:617137 frontometaphyseal dysplasia 2 semapv:UnspecifiedMatching +MONDO:0014936 skos:exactMatch OMIM:617140 zttk syndrome semapv:UnspecifiedMatching +MONDO:0014937 skos:exactMatch OMIM:617141 aniridia 2 semapv:UnspecifiedMatching +MONDO:0014938 skos:exactMatch OMIM:617142 aniridia 3 semapv:UnspecifiedMatching +MONDO:0014939 skos:exactMatch OMIM:617143 myasthenic syndrome, congenital, 20, presynaptic semapv:UnspecifiedMatching +MONDO:0014940 skos:exactMatch OMIM:617145 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset semapv:UnspecifiedMatching +MONDO:0014941 skos:exactMatch OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch semapv:UnspecifiedMatching +MONDO:0014942 skos:exactMatch OMIM:617153 developmental and epileptic encephalopathy 45 semapv:UnspecifiedMatching +MONDO:0014943 skos:exactMatch OMIM:617156 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) semapv:UnspecifiedMatching +MONDO:0014944 skos:exactMatch OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures semapv:UnspecifiedMatching +MONDO:0014945 skos:exactMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:UnspecifiedMatching +MONDO:0014946 skos:exactMatch OMIM:617159 sifrim-hitz-weiss syndrome semapv:UnspecifiedMatching +MONDO:0014947 skos:exactMatch OMIM:617162 developmental and epileptic encephalopathy 46 semapv:UnspecifiedMatching +MONDO:0014948 skos:exactMatch OMIM:617164 short stature-micrognathia syndrome semapv:UnspecifiedMatching +MONDO:0014949 skos:exactMatch OMIM:617166 developmental and epileptic encephalopathy 47 semapv:UnspecifiedMatching +MONDO:0014950 skos:exactMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:UnspecifiedMatching +MONDO:0014951 skos:exactMatch OMIM:617169 intellectual developmental disorder, autosomal recessive 74 semapv:UnspecifiedMatching +MONDO:0014952 skos:exactMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:UnspecifiedMatching +MONDO:0014953 skos:exactMatch OMIM:617173 lodder-merla syndrome, iia 1, with impaired intellectual development and cardiac arrhythmia semapv:UnspecifiedMatching +MONDO:0014954 skos:exactMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:UnspecifiedMatching +MONDO:0014955 skos:exactMatch OMIM:617175 retinal dystrophy with or without extraocular anomalies semapv:UnspecifiedMatching +MONDO:0014956 skos:exactMatch OMIM:617180 chitayat syndrome semapv:UnspecifiedMatching +MONDO:0014957 skos:exactMatch OMIM:617182 lodder-merla syndrome, iia 2, with developmental delay and with or without cardiac arrhythmia semapv:UnspecifiedMatching +MONDO:0014958 skos:exactMatch OMIM:617183 harel-yoon syndrome semapv:UnspecifiedMatching +MONDO:0014959 skos:exactMatch OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant semapv:UnspecifiedMatching +MONDO:0014960 skos:exactMatch omim.ps:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0014961 skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:UnspecifiedMatching +MONDO:0014962 skos:exactMatch OMIM:617188 intellectual developmental disorder, autosomal recessive 57 semapv:UnspecifiedMatching +MONDO:0014963 skos:exactMatch OMIM:617190 shashi-pena syndrome semapv:UnspecifiedMatching +MONDO:0014965 skos:exactMatch OMIM:617194 lethal congenital contracture syndrome 11 semapv:UnspecifiedMatching +MONDO:0014966 skos:exactMatch OMIM:617201 periventricular nodular heterotopia 7 semapv:UnspecifiedMatching +MONDO:0014967 skos:exactMatch OMIM:617205 heterotaxy, visceral, 8, autosomal semapv:UnspecifiedMatching +MONDO:0014968 skos:exactMatch OMIM:617207 encephalopathy, progressive, with amyotrophy and optic atrophy semapv:UnspecifiedMatching +MONDO:0014969 skos:exactMatch OMIM:617213 sedoheptulokinase deficiency semapv:UnspecifiedMatching +MONDO:0014970 skos:exactMatch OMIM:617214 spermatogenic failure 17 semapv:UnspecifiedMatching +MONDO:0014971 skos:exactMatch OMIM:617217 amelogenesis imperfecta, hypomaturation type, iia6 semapv:UnspecifiedMatching +MONDO:0014972 skos:exactMatch OMIM:617219 chromosome 19q13.11 deletion syndrome, proximal semapv:UnspecifiedMatching +MONDO:0014973 skos:exactMatch OMIM:617222 sudden cardiac failure, infantile semapv:UnspecifiedMatching +MONDO:0014974 skos:exactMatch OMIM:617223 sudden cardiac failure, alcohol-induced semapv:UnspecifiedMatching +MONDO:0014975 skos:exactMatch OMIM:617225 spastic paraplegia 78, autosomal recessive semapv:UnspecifiedMatching +MONDO:0014976 skos:exactMatch OMIM:617228 combined oxidative phosphorylation deficiency 31 semapv:UnspecifiedMatching +MONDO:0014977 skos:exactMatch OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 semapv:UnspecifiedMatching +MONDO:0014978 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching +MONDO:0014979 skos:exactMatch OMIM:617235 myoclonus, intractable, neonatal semapv:UnspecifiedMatching +MONDO:0014980 skos:exactMatch omim.ps:617236 Cone-rod dystrophy and hearing loss semapv:UnspecifiedMatching +MONDO:0014981 skos:exactMatch OMIM:617237 immunodeficiency 49 semapv:UnspecifiedMatching +MONDO:0014982 skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:UnspecifiedMatching +MONDO:0014983 skos:exactMatch OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic semapv:UnspecifiedMatching +MONDO:0014984 skos:exactMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:UnspecifiedMatching +MONDO:0014985 skos:exactMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:UnspecifiedMatching +MONDO:0014986 skos:exactMatch OMIM:617244 fanconi anemia, complementation group r semapv:UnspecifiedMatching +MONDO:0014987 skos:exactMatch OMIM:617247 fanconi anemia, complementation group u semapv:UnspecifiedMatching +MONDO:0014989 skos:exactMatch OMIM:617251 uncombable hair syndrome 2 semapv:UnspecifiedMatching +MONDO:0014990 skos:exactMatch OMIM:617252 uncombable hair syndrome 3 semapv:UnspecifiedMatching +MONDO:0014991 skos:exactMatch OMIM:617253 seckel syndrome 10 semapv:UnspecifiedMatching +MONDO:0014992 skos:exactMatch OMIM:617255 lissencephaly 8 semapv:UnspecifiedMatching +MONDO:0014993 skos:exactMatch OMIM:617258 myopathy, myofibrillar, 8 semapv:UnspecifiedMatching +MONDO:0014994 skos:exactMatch OMIM:617260 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0014995 skos:exactMatch OMIM:617268 neurodevelopmental disorder with hypotonia, seizures, and absent language semapv:UnspecifiedMatching +MONDO:0014996 skos:exactMatch OMIM:617270 intellectual developmental disorder, autosomal recessive 58 semapv:UnspecifiedMatching +MONDO:0014997 skos:exactMatch OMIM:617271 nephronophthisis 20 semapv:UnspecifiedMatching +MONDO:0014998 skos:exactMatch OMIM:617272 glaucoma 3, primary congenital, e semapv:UnspecifiedMatching +MONDO:0014999 skos:exactMatch OMIM:617275 tooth agenesis, selective, 9 semapv:UnspecifiedMatching +MONDO:0015000 skos:exactMatch OMIM:617276 developmental and epileptic encephalopathy 48 semapv:UnspecifiedMatching +MONDO:0015001 skos:exactMatch OMIM:617280 atrial fibrillation, familial, 18 semapv:UnspecifiedMatching +MONDO:0015002 skos:exactMatch OMIM:617281 developmental and epileptic encephalopathy 49 semapv:UnspecifiedMatching +MONDO:0015003 skos:exactMatch OMIM:617282 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities semapv:UnspecifiedMatching +MONDO:0015004 skos:exactMatch OMIM:617284 dystonia 28, childhood-onset semapv:UnspecifiedMatching +MONDO:0015005 skos:exactMatch OMIM:617290 epilepsy, early-onset, 1, vitamin b6-dependent semapv:UnspecifiedMatching +MONDO:0015006 skos:exactMatch OMIM:617294 epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy semapv:UnspecifiedMatching +MONDO:0015007 skos:exactMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:UnspecifiedMatching +MONDO:0015008 skos:exactMatch OMIM:617297 amelogenesis imperfecta, iia 1j semapv:UnspecifiedMatching +MONDO:0015009 skos:exactMatch OMIM:617300 lymphatic malformation 7 semapv:UnspecifiedMatching +MONDO:0015010 skos:exactMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:UnspecifiedMatching +MONDO:0015011 skos:exactMatch OMIM:617302 optic atrophy 11 semapv:UnspecifiedMatching +MONDO:0015012 skos:exactMatch OMIM:617303 mucopolysaccharidosis-plus syndrome semapv:UnspecifiedMatching +MONDO:0015013 skos:exactMatch OMIM:617304 retinitis pigmentosa 77 semapv:UnspecifiedMatching +MONDO:0015014 skos:exactMatch OMIM:617306 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness semapv:UnspecifiedMatching +MONDO:0015015 skos:exactMatch OMIM:617308 bile acid synthesis defect, congenital, 6 semapv:UnspecifiedMatching +MONDO:0015016 skos:exactMatch OMIM:617315 anterior segment dysgenesis 6 semapv:UnspecifiedMatching +MONDO:0015017 skos:exactMatch OMIM:617319 anterior segment dysgenesis 8 semapv:UnspecifiedMatching +MONDO:0015018 skos:exactMatch OMIM:617320 ichthyosis, congenital, autosomal recessive 12 semapv:UnspecifiedMatching +MONDO:0015019 skos:exactMatch OMIM:617321 yao syndrome semapv:UnspecifiedMatching +MONDO:0015020 skos:exactMatch OMIM:617323 intellectual developmental disorder, autosomal recessive 59 semapv:UnspecifiedMatching +MONDO:0015021 skos:exactMatch OMIM:617330 hypotonia, ataxia, and delayed development syndrome semapv:UnspecifiedMatching +MONDO:0015022 skos:exactMatch OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis semapv:UnspecifiedMatching +MONDO:0015023 skos:exactMatch OMIM:617336 congenital myopathy 24 semapv:UnspecifiedMatching +MONDO:0015024 skos:exactMatch OMIM:617337 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail iia semapv:UnspecifiedMatching +MONDO:0015025 skos:exactMatch OMIM:617339 developmental and epileptic encephalopathy 51 semapv:UnspecifiedMatching +MONDO:0015026 skos:exactMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:UnspecifiedMatching +MONDO:0015129 skos:exactMatch OMIM:240200 hypoadrenocorticism, familial semapv:UnspecifiedMatching +MONDO:0015151 skos:exactMatch omim.ps:603511 Muscular dystrophy, limb-girdle, autosomal dominant semapv:UnspecifiedMatching +MONDO:0015152 skos:exactMatch omim.ps:253600 Muscular dystrophy, limb-girdle, autosomal recessive semapv:UnspecifiedMatching +MONDO:0015167 skos:exactMatch OMIM:217100 constricting bands, congenital semapv:UnspecifiedMatching +MONDO:0015168 skos:exactMatch omim.ps:617468 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching +MONDO:0015229 skos:exactMatch omim.ps:209900 Bardet-Biedl syndrome semapv:UnspecifiedMatching +MONDO:0015231 skos:exactMatch omim.ps:601678 Bartter syndrome semapv:UnspecifiedMatching +MONDO:0015243 skos:exactMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:UnspecifiedMatching +MONDO:0015244 skos:exactMatch omim.ps:213200 Spinocerebellar ataxia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0015253 skos:exactMatch omim.ps:105650 Diamond-Blackfan anemia semapv:UnspecifiedMatching +MONDO:0015263 skos:exactMatch omim.ps:601144 Brugada syndrome semapv:UnspecifiedMatching +MONDO:0015267 skos:exactMatch omim.ps:164280 Feingold syndrome semapv:UnspecifiedMatching +MONDO:0015270 skos:exactMatch OMIM:617936 butyrylcholinesterase deficiency semapv:UnspecifiedMatching +MONDO:0015278 skos:exactMatch OMIM:260350 pancreatic cancer semapv:UnspecifiedMatching +MONDO:0015279 skos:exactMatch omim.ps:114580 Familial candidiasis semapv:UnspecifiedMatching +MONDO:0015280 skos:exactMatch omim.ps:115150 Cardiofaciocutaneous syndrome semapv:UnspecifiedMatching +MONDO:0015350 skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:UnspecifiedMatching +MONDO:0015353 skos:exactMatch OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 semapv:UnspecifiedMatching +MONDO:0015362 skos:exactMatch omim.ps:182960 Neuronopathy, distal hereditary motor, autosomal dominant semapv:UnspecifiedMatching +MONDO:0015363 skos:exactMatch omim.ps:604320 Neuronopathy, distal hereditary motor, autosomal recessive semapv:UnspecifiedMatching +MONDO:0015364 skos:exactMatch omim.ps:162400 Hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching +MONDO:0015375 skos:exactMatch omim.ps:311200 Orofaciodigital syndrome semapv:UnspecifiedMatching +MONDO:0015397 skos:exactMatch omim.ps:164210 Craniofacial Microsomia semapv:UnspecifiedMatching +MONDO:0015426 skos:exactMatch omim.ps:251450 Desbuquois dysplasia semapv:UnspecifiedMatching +MONDO:0015452 skos:exactMatch omim.ps:135900 Coffin-Siris syndrome semapv:UnspecifiedMatching +MONDO:0015465 skos:exactMatch omim.ps:123000 Craniometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0015469 skos:exactMatch omim.ps:123100 Craniosynostosis semapv:UnspecifiedMatching +MONDO:0015486 skos:exactMatch omim.ps:148300 Keratoconus semapv:UnspecifiedMatching +MONDO:0015517 skos:exactMatch omim.ps:607594 Immunodeficiency, common variable semapv:UnspecifiedMatching +MONDO:0015526 skos:exactMatch omim.ps:272430 Cold-induced sweating syndrome semapv:UnspecifiedMatching +MONDO:0015541 skos:exactMatch omim.ps:267700 Hemophagocytic lymphohistiocytosis, familial semapv:UnspecifiedMatching +MONDO:0015601 skos:exactMatch OMIM:301030 van esch-o'driscoll syndrome semapv:UnspecifiedMatching +MONDO:0015609 skos:exactMatch omim.ps:604348 Advanced sleep phase syndrome semapv:UnspecifiedMatching +MONDO:0015612 skos:exactMatch omim.ps:300009 Dent disease semapv:UnspecifiedMatching +MONDO:0015626 skos:exactMatch omim.ps:118220 Charcot-Marie-Tooth disease semapv:UnspecifiedMatching +MONDO:0015643 skos:exactMatch omim.ps:132100 Photoparoxysmal response semapv:UnspecifiedMatching +MONDO:0015722 skos:exactMatch omim.ps:277450 Vitamin K-dependent clotting factors, combined deficiency of semapv:UnspecifiedMatching +MONDO:0015748 skos:exactMatch omim.ps:193900 White sponge nevus semapv:UnspecifiedMatching +MONDO:0015762 skos:exactMatch omim.ps:211600 Cholestasis, progressive familial intrahepatic semapv:UnspecifiedMatching +MONDO:0015776 skos:exactMatch omim.ps:215100 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching +MONDO:0015780 skos:exactMatch omim.ps:127550 Dyskeratosis congenita semapv:UnspecifiedMatching +MONDO:0015797 skos:exactMatch omim.ps:600630 UV-sensitive syndrome semapv:UnspecifiedMatching +MONDO:0015799 skos:exactMatch omim.ps:607326 Smith-McCort dysplasia semapv:UnspecifiedMatching +MONDO:0015827 skos:exactMatch omim.ps:179800 Distal renal tubular acidosis semapv:UnspecifiedMatching +MONDO:0015855 skos:exactMatch omim.ps:113700 Breasts and/or nipples, aplasia or hypoplasia of semapv:UnspecifiedMatching +MONDO:0015912 skos:exactMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:UnspecifiedMatching +MONDO:0015942 skos:exactMatch omim.ps:305620 Frontometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0015977 skos:exactMatch omim.ps:601495 Agammaglobulinemia semapv:UnspecifiedMatching +MONDO:0015993 skos:exactMatch omim.ps:120970 Cone-rod dystrophy/Cone dystrophy semapv:UnspecifiedMatching +MONDO:0015999 skos:exactMatch omim.ps:610489 Pigmented nodular adrenocortical disease, primary semapv:UnspecifiedMatching +MONDO:0016002 skos:exactMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:UnspecifiedMatching +MONDO:0016027 skos:exactMatch omim.ps:121200 Seizures, benign familial neonatal semapv:UnspecifiedMatching +MONDO:0016033 skos:exactMatch omim.ps:122470 Cornelia de Lange syndrome semapv:UnspecifiedMatching +MONDO:0016063 skos:exactMatch omim.ps:158350 Cowden disease semapv:UnspecifiedMatching +MONDO:0016068 skos:exactMatch omim.ps:228520 Fibrochondrogenesis semapv:UnspecifiedMatching +MONDO:0016070 skos:exactMatch omim.ps:135300 Gingival fibromatosis semapv:UnspecifiedMatching +MONDO:0016073 skos:exactMatch omim.ps:309800 Microphthalmia, syndromic semapv:UnspecifiedMatching +MONDO:0016085 skos:exactMatch omim.ps:112240 Cole-Carpenter syndrome semapv:UnspecifiedMatching +MONDO:0016107 skos:exactMatch omim.ps:160900 Myotonic dystrophy semapv:UnspecifiedMatching +MONDO:0016163 skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:UnspecifiedMatching +MONDO:0016166 skos:exactMatch omim.ps:145000 Hyperparathyroidism semapv:UnspecifiedMatching +MONDO:0016215 skos:exactMatch omim.ps:612900 Spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching +MONDO:0016227 skos:exactMatch omim.ps:160120 Episodic ataxia semapv:UnspecifiedMatching +MONDO:0016241 skos:exactMatch omim.ps:104290 Alternating hemiplegia of childhood semapv:UnspecifiedMatching +MONDO:0016256 skos:exactMatch omim.ps:235510 Hennekam lymphangiectasia-lymphedema syndrome semapv:UnspecifiedMatching +MONDO:0016293 skos:exactMatch omim.ps:310500 Night blindness, congenital stationary semapv:UnspecifiedMatching +MONDO:0016294 skos:exactMatch OMIM:306980 hirschsprung disease with iia d brachydactyly semapv:UnspecifiedMatching +MONDO:0016295 skos:exactMatch omim.ps:256730 Ceroid lipofuscinoses semapv:UnspecifiedMatching +MONDO:0016296 skos:exactMatch omim.ps:236100 Holoprosencephaly semapv:UnspecifiedMatching +MONDO:0016333 skos:exactMatch omim.ps:115200 Dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0016340 skos:exactMatch omim.ps:115210 Familial restrictive cardiomyopathy semapv:UnspecifiedMatching +MONDO:0016342 skos:exactMatch omim.ps:107970 Arrhythmogenic right ventricular dysplasia semapv:UnspecifiedMatching +MONDO:0016349 skos:exactMatch omim.ps:236600 Hydrocephalus, congenital semapv:UnspecifiedMatching +MONDO:0016368 skos:exactMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0016369 skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0016381 skos:exactMatch OMIM:145700 hypertrichosis lanuginosa congenita semapv:UnspecifiedMatching +MONDO:0016390 skos:exactMatch omim.ps:146200 Hypoparathyroidism, familial semapv:UnspecifiedMatching +MONDO:0016419 skos:exactMatch OMIM:114480 breast cancer semapv:UnspecifiedMatching +MONDO:0016470 skos:exactMatch omim.ps:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome semapv:UnspecifiedMatching +MONDO:0016471 skos:exactMatch omim.ps:167200 Pachyonychia congenita semapv:UnspecifiedMatching +MONDO:0016473 skos:exactMatch omim.ps:609322 Rhabdoid tumor predisposition syndrome semapv:UnspecifiedMatching +MONDO:0016483 skos:exactMatch omim.ps:105800 Aneurysm, intracranial berry semapv:UnspecifiedMatching +MONDO:0016512 skos:exactMatch omim.ps:147920 Kabuki syndrome semapv:UnspecifiedMatching +MONDO:0016516 skos:exactMatch omim.ps:127000 Kenny-Caffey syndrome semapv:UnspecifiedMatching +MONDO:0016525 skos:exactMatch omim.ps:103900 Hyperaldosteronism semapv:UnspecifiedMatching +MONDO:0016532 skos:exactMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:UnspecifiedMatching +MONDO:0016537 skos:exactMatch omim.ps:308240 Lymphoproliferative syndrome semapv:UnspecifiedMatching +MONDO:0016558 skos:exactMatch omim.ps:157600 Mirror movements semapv:UnspecifiedMatching +MONDO:0016575 skos:exactMatch omim.ps:244400 Primary ciliary dyskinesia semapv:UnspecifiedMatching +MONDO:0016576 skos:exactMatch omim.ps:183600 Split-hand/foot malformation semapv:UnspecifiedMatching +MONDO:0016581 skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:UnspecifiedMatching +MONDO:0016584 skos:exactMatch omim.ps:248370 Mandibuloacral dysplasia with lipodystrophy semapv:UnspecifiedMatching +MONDO:0016596 skos:exactMatch omim.ps:239300 Hyperphosphatasia with mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0016620 skos:exactMatch omim.ps:259100 Hypertropic osteoarthropathy, primary semapv:UnspecifiedMatching +MONDO:0016643 skos:exactMatch omim.ps:136760 Frontonasal dysplasia semapv:UnspecifiedMatching +MONDO:0016648 skos:exactMatch omim.ps:132400 Epiphyseal dysplasia, multiple semapv:UnspecifiedMatching +MONDO:0016649 skos:exactMatch omim.ps:600118 Warburg micro syndrome semapv:UnspecifiedMatching +MONDO:0016660 skos:exactMatch omim.ps:251200 Microcephaly, primary semapv:UnspecifiedMatching +MONDO:0016675 skos:exactMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:UnspecifiedMatching +MONDO:0016763 skos:exactMatch omim.ps:184255 Spondylometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0016817 skos:exactMatch omim.ps:224690 Meier-Gorlin syndrome semapv:UnspecifiedMatching +MONDO:0016820 skos:exactMatch omim.ps:252350 Moyamoya disease semapv:UnspecifiedMatching +MONDO:0016824 skos:exactMatch omim.ps:228550 Infantile myofibromatosis semapv:UnspecifiedMatching +MONDO:0016825 skos:exactMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:UnspecifiedMatching +MONDO:0016826 skos:exactMatch omim.ps:277400 Methylmalonic aciduria and homocystinuria semapv:UnspecifiedMatching +MONDO:0016830 skos:exactMatch omim.ps:310300 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching +MONDO:0016862 skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:UnspecifiedMatching +MONDO:0017123 skos:exactMatch omim.ps:208085 Arthrogryposis, renal dysfunction, and cholestasis semapv:UnspecifiedMatching +MONDO:0017136 skos:exactMatch omim.ps:258315 Omodysplasia semapv:UnspecifiedMatching +MONDO:0017138 skos:exactMatch omim.ps:300000 semapv:UnspecifiedMatching +MONDO:0017148 skos:exactMatch omim.ps:178600 Pulmonary hypertension, primary semapv:UnspecifiedMatching +MONDO:0017161 skos:exactMatch omim.ps:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis semapv:UnspecifiedMatching +MONDO:0017169 skos:exactMatch omim.ps:131100 Multiple endocrine neoplasia semapv:UnspecifiedMatching +MONDO:0017265 skos:exactMatch omim.ps:242300 Ichthyosis, congenital, autosomal recessive semapv:UnspecifiedMatching +MONDO:0017312 skos:exactMatch omim.ps:233400 Perrault syndrome semapv:UnspecifiedMatching +MONDO:0017329 skos:exactMatch omim.ps:193000 Vesicoureteral reflux semapv:UnspecifiedMatching +MONDO:0017338 skos:exactMatch omim.ps:605711 Multiple mitochondrial dysfunctions syndrome semapv:UnspecifiedMatching +MONDO:0017359 skos:exactMatch omim.ps:250950 3-Methylglutaconic aciduria semapv:UnspecifiedMatching +MONDO:0017380 skos:exactMatch OMIM:174900 juvenile polyposis syndrome semapv:UnspecifiedMatching +MONDO:0017398 skos:exactMatch omim.ps:257920 3MC syndrome semapv:UnspecifiedMatching +MONDO:0017400 skos:exactMatch OMIM:615710 mitchell-riley syndrome semapv:UnspecifiedMatching +MONDO:0017411 skos:exactMatch omim.ps:614328 Neonatal inflammatory skin and bowel disease semapv:UnspecifiedMatching +MONDO:0017417 skos:exactMatch omim.ps:208540 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching +MONDO:0017425 skos:exactMatch omim.ps:174400 Polydactyly, preaxial semapv:UnspecifiedMatching +MONDO:0017436 skos:exactMatch omim.ps:253310 Lethal congenital contracture syndrome semapv:UnspecifiedMatching +MONDO:0017454 skos:exactMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:UnspecifiedMatching +MONDO:0017579 skos:exactMatch omim.ps:243310 Baraitser-Winter syndrome semapv:UnspecifiedMatching +MONDO:0017610 skos:exactMatch omim.ps:131760 Epidermolysis Bullosa Simplex semapv:UnspecifiedMatching +MONDO:0017612 skos:exactMatch omim.ps:226650 Epidermolysis bullosa, junctional semapv:UnspecifiedMatching +MONDO:0017615 skos:exactMatch omim.ps:601764 Seizures, benign familial infantile semapv:UnspecifiedMatching +MONDO:0017715 skos:exactMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0017790 skos:exactMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:UnspecifiedMatching +MONDO:0017813 skos:exactMatch omim.ps:601390 Van Maldergem syndrome semapv:UnspecifiedMatching +MONDO:0017824 skos:exactMatch omim.ps:102200 Pituitary adenoma semapv:UnspecifiedMatching +MONDO:0017838 skos:exactMatch omim.ps:269500 Sclerosteosis semapv:UnspecifiedMatching +MONDO:0017842 skos:exactMatch omim.ps:266900 Senior-Loken syndrome semapv:UnspecifiedMatching +MONDO:0017845 skos:exactMatch omim.ps:108600 Spastic ataxia semapv:UnspecifiedMatching +MONDO:0017851 skos:exactMatch omim.ps:133200 Erythrokeratodermia variabilis et progressiva semapv:UnspecifiedMatching +MONDO:0017868 skos:exactMatch omim.ps:251280 Diencephalic-mesencephalic junction dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0017896 skos:exactMatch omim.ps:188550 Thyroid cancer, nonmedullary semapv:UnspecifiedMatching +MONDO:0017919 skos:exactMatch OMIM:258040 oeis complex semapv:UnspecifiedMatching +MONDO:0017923 skos:exactMatch omim.ps:186500 Multiple synostoses syndrome semapv:UnspecifiedMatching +MONDO:0017951 skos:exactMatch omim.ps:190350 Trichorhinophalangeal syndrome semapv:UnspecifiedMatching +MONDO:0017990 skos:exactMatch omim.ps:604772 Ventricular tachycardia, catecholaminergic polymorphic semapv:UnspecifiedMatching +MONDO:0017991 skos:exactMatch OMIM:207600 takayasu arteritis semapv:UnspecifiedMatching +MONDO:0017996 skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching +MONDO:0018023 skos:exactMatch OMIM:617971 methemoglobinemia, beta iia semapv:UnspecifiedMatching +MONDO:0018037 skos:exactMatch omim.ps:147060 Hyper-IgE recurrent infection syndrome semapv:UnspecifiedMatching +MONDO:0018053 skos:exactMatch omim.ps:601675 Trichothiodystrophy semapv:UnspecifiedMatching +MONDO:0018054 skos:exactMatch omim.ps:608583 Atrial fibrillation, familial semapv:UnspecifiedMatching +MONDO:0018065 skos:exactMatch omim.ps:190440 Trigonocephaly, isolated semapv:UnspecifiedMatching +MONDO:0018094 skos:exactMatch omim.ps:193500 Waardenburg syndrome semapv:UnspecifiedMatching +MONDO:0018096 skos:exactMatch omim.ps:277600 Weill-Marchesani syndrome semapv:UnspecifiedMatching +MONDO:0018100 skos:exactMatch omim.ps:602014 Hypomagnesemia semapv:UnspecifiedMatching +MONDO:0018106 skos:exactMatch omim.ps:278300 Xanthinuria semapv:UnspecifiedMatching +MONDO:0018116 skos:exactMatch omim.ps:230400 Galactosemia semapv:UnspecifiedMatching +MONDO:0018130 skos:exactMatch OMIM:618049 parkinsonism-dystonia 2, infantile-onset semapv:UnspecifiedMatching +MONDO:0018138 skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching +MONDO:0018151 skos:exactMatch omim.ps:607426 Coenzyme Q10 deficiency, primary semapv:UnspecifiedMatching +MONDO:0018158 skos:exactMatch omim.ps:603041 Mitochondrial DNA depletion syndrome semapv:UnspecifiedMatching +MONDO:0018160 skos:exactMatch OMIM:180200 retinoblastoma semapv:UnspecifiedMatching +MONDO:0018163 skos:exactMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:UnspecifiedMatching +MONDO:0018190 skos:exactMatch omim.ps:158600 Spinal muscular atrophy, lower extremity-predominant semapv:UnspecifiedMatching +MONDO:0018214 skos:exactMatch omim.ps:604233 Epilepsy, generalized, with febrile seizures plus semapv:UnspecifiedMatching +MONDO:0018229 skos:exactMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:UnspecifiedMatching +MONDO:0018264 skos:exactMatch OMIM:113750 albinism, oculocutaneous, iia 6 semapv:UnspecifiedMatching +MONDO:0018274 skos:exactMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:UnspecifiedMatching +MONDO:0018305 skos:exactMatch omim.ps:306400 Granulomatous disease, chronic semapv:UnspecifiedMatching +MONDO:0018306 skos:exactMatch omim.ps:214450 Griscelli syndrome semapv:UnspecifiedMatching +MONDO:0018307 skos:exactMatch omim.ps:234200 Neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching +MONDO:0018309 skos:exactMatch omim.ps:142623 Hirschsprung disease semapv:UnspecifiedMatching +MONDO:0018310 skos:exactMatch OMIM:604856 langerhans cell histiocytosis semapv:UnspecifiedMatching +MONDO:0018319 skos:exactMatch omim.ps:615040 Familial episodic pain syndrome semapv:UnspecifiedMatching +MONDO:0018346 skos:exactMatch OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis semapv:UnspecifiedMatching +MONDO:0018363 skos:exactMatch omim.ps:136500 Focal facial dermal dysplasia semapv:UnspecifiedMatching +MONDO:0018445 skos:exactMatch OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor semapv:UnspecifiedMatching +MONDO:0018458 skos:exactMatch omim.ps:145980 Hypocalciuric hypercalcemia semapv:UnspecifiedMatching +MONDO:0018470 skos:exactMatch omim.ps:191830 Renal hypodysplasia/aplasia semapv:UnspecifiedMatching +MONDO:0018473 skos:exactMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:UnspecifiedMatching +MONDO:0018542 skos:exactMatch omim.ps:202700 Neutropenia, severe congenital semapv:UnspecifiedMatching +MONDO:0018543 skos:exactMatch omim.ps:601198 Hypocalcemia semapv:UnspecifiedMatching +MONDO:0018544 skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:UnspecifiedMatching +MONDO:0018555 skos:exactMatch omim.ps:147950 Hypogonadotropic hypogonadism with or without anosmia semapv:UnspecifiedMatching +MONDO:0018582 skos:exactMatch OMIM:619290 mahvash disease semapv:UnspecifiedMatching +MONDO:0018630 skos:exactMatch omim.ps:120435 Colorectal cancer, hereditary nonpolyposis semapv:UnspecifiedMatching +MONDO:0018657 skos:exactMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:UnspecifiedMatching +MONDO:0018663 skos:exactMatch OMIM:618019 rhizomelic skeletal dysplasia with or without pelger-huet anomaly semapv:UnspecifiedMatching +MONDO:0018677 skos:exactMatch omim.ps:306955 Heterotaxy, visceral semapv:UnspecifiedMatching +MONDO:0018690 skos:exactMatch OMIM:103100 adie pupil semapv:UnspecifiedMatching +MONDO:0018764 skos:exactMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:UnspecifiedMatching +MONDO:0018767 skos:exactMatch OMIM:602079 trimethylaminuria semapv:UnspecifiedMatching +MONDO:0018768 skos:exactMatch omim.ps:120100 Familial cold autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0018770 skos:exactMatch omim.ps:208500 Short-rib thoracic dysplasia semapv:UnspecifiedMatching +MONDO:0018772 skos:exactMatch omim.ps:213300 Joubert syndrome semapv:UnspecifiedMatching +MONDO:0018781 skos:exactMatch omim.ps:148210 Keratitis-ichthyosis-deafness syndrome semapv:UnspecifiedMatching +MONDO:0018794 skos:exactMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:UnspecifiedMatching +MONDO:0018801 skos:exactMatch omim.ps:277180 Vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching +MONDO:0018805 skos:exactMatch OMIM:603003 bile duct cysts semapv:UnspecifiedMatching +MONDO:0018815 skos:exactMatch OMIM:606179 aneurysmal bone cysts semapv:UnspecifiedMatching +MONDO:0018816 skos:exactMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:UnspecifiedMatching +MONDO:0018820 skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:UnspecifiedMatching +MONDO:0018827 skos:exactMatch omim.ps:610448 Chilblain lupus semapv:UnspecifiedMatching +MONDO:0018828 skos:exactMatch OMIM:617397 pseudo-torch syndrome 2 semapv:UnspecifiedMatching +MONDO:0018838 skos:exactMatch omim.ps:607432 Lissencephaly semapv:UnspecifiedMatching +MONDO:0018841 skos:exactMatch omim.ps:607765 Bile acid synthesis defect, congenital semapv:UnspecifiedMatching +MONDO:0018855 skos:exactMatch OMIM:604093 keratosis pilaris atrophicans semapv:UnspecifiedMatching +MONDO:0018866 skos:exactMatch omim.ps:225750 Aicardi-Goutieres syndrome semapv:UnspecifiedMatching +MONDO:0018870 skos:exactMatch omim.ps:208000 Generalized arterial calcification of infancy semapv:UnspecifiedMatching +MONDO:0018874 skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:UnspecifiedMatching +MONDO:0018875 skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:UnspecifiedMatching +MONDO:0018881 skos:exactMatch OMIM:614286 myelodysplastic syndrome semapv:UnspecifiedMatching +MONDO:0018901 skos:exactMatch omim.ps:604169 Left ventricular noncompaction semapv:UnspecifiedMatching +MONDO:0018910 skos:exactMatch omim.ps:203100 Oculocutaneous albinism semapv:UnspecifiedMatching +MONDO:0018911 skos:exactMatch OMIM:606391 maturity-onset diabetes of the young semapv:UnspecifiedMatching +MONDO:0018919 skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:UnspecifiedMatching +MONDO:0018921 skos:exactMatch omim.ps:249000 Meckel syndrome semapv:UnspecifiedMatching +MONDO:0018931 skos:exactMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:UnspecifiedMatching +MONDO:0018940 skos:exactMatch omim.ps:601462 Myasthenic syndrome, congenital semapv:UnspecifiedMatching +MONDO:0018943 skos:exactMatch omim.ps:601419 Myopathy, myofibrillar semapv:UnspecifiedMatching +MONDO:0018945 skos:exactMatch OMIM:300842 mcleod syndrome semapv:UnspecifiedMatching +MONDO:0018947 skos:exactMatch omim.ps:160150 Myopathy, centronuclear semapv:UnspecifiedMatching +MONDO:0018949 skos:exactMatch omim.ps:160500 Myopathy, distal semapv:UnspecifiedMatching +MONDO:0018950 skos:exactMatch omim.ps:210200 Methylcrotonylglycinuria semapv:UnspecifiedMatching +MONDO:0018953 skos:exactMatch omim.ps:168500 Parietal foramina semapv:UnspecifiedMatching +MONDO:0018954 skos:exactMatch omim.ps:609192 Loeys-Dietz syndrome semapv:UnspecifiedMatching +MONDO:0018958 skos:exactMatch omim.ps:161800 Nemaline myopathy semapv:UnspecifiedMatching +MONDO:0018959 skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:UnspecifiedMatching +MONDO:0018965 skos:exactMatch omim.ps:301050 Alport syndrome semapv:UnspecifiedMatching +MONDO:0018975 skos:exactMatch OMIM:162200 neurofibromatosis, iia 1 semapv:UnspecifiedMatching +MONDO:0018996 skos:exactMatch OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 semapv:UnspecifiedMatching +MONDO:0018997 skos:exactMatch omim.ps:163950 Noonan syndrome semapv:UnspecifiedMatching +MONDO:0018998 skos:exactMatch omim.ps:204000 Leber congenital amaurosis semapv:UnspecifiedMatching +MONDO:0019005 skos:exactMatch omim.ps:256100 Nephronophthisis semapv:UnspecifiedMatching +MONDO:0019008 skos:exactMatch omim.ps:243300 Cholestasis, benign recurrent intrahepatic semapv:UnspecifiedMatching +MONDO:0019012 skos:exactMatch omim.ps:201000 Carpenter syndrome semapv:UnspecifiedMatching +MONDO:0019019 skos:exactMatch omim.ps:166200 Osteogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0019023 skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:UnspecifiedMatching +MONDO:0019026 skos:exactMatch omim.ps:259700 Osteopetrosis, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019037 skos:exactMatch omim.ps:601104 Supranuclear palsy, progressive semapv:UnspecifiedMatching +MONDO:0019046 skos:exactMatch omim.ps:312080 Leukodystrophy, hypomyelinating semapv:UnspecifiedMatching +MONDO:0019064 skos:exactMatch omim.ps:303350 Spastic paraplegia semapv:UnspecifiedMatching +MONDO:0019073 skos:exactMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:UnspecifiedMatching +MONDO:0019078 skos:exactMatch omim.ps:220210 Ritscher-Schinzel syndrome semapv:UnspecifiedMatching +MONDO:0019107 skos:exactMatch OMIM:268150 rh-null, regulator iia semapv:UnspecifiedMatching +MONDO:0019111 skos:exactMatch omim.ps:187950 Thrombocythemia semapv:UnspecifiedMatching +MONDO:0019148 skos:exactMatch OMIM:620151 wolman disease semapv:UnspecifiedMatching +MONDO:0019149 skos:exactMatch OMIM:278000 cholesteryl ester storage disease semapv:UnspecifiedMatching +MONDO:0019154 skos:exactMatch OMIM:300068 androgen insensitivity syndrome semapv:UnspecifiedMatching +MONDO:0019162 skos:exactMatch omim.ps:145260 Pseudohypoaldosteronism, type II semapv:UnspecifiedMatching +MONDO:0019165 skos:exactMatch omim.ps:176400 Precocious puberty, central semapv:UnspecifiedMatching +MONDO:0019169 skos:exactMatch omim.ps:312170 Pyruvate dehydrogenase complex deficiency semapv:UnspecifiedMatching +MONDO:0019171 skos:exactMatch omim.ps:192500 Long QT syndrome semapv:UnspecifiedMatching +MONDO:0019180 skos:exactMatch omim.ps:187300 Telangiectasia, hereditary hemorrhagic semapv:UnspecifiedMatching +MONDO:0019181 skos:exactMatch omim.ps:309530 Intellectual developmental disorder, nonsyndromic, X-linked semapv:UnspecifiedMatching +MONDO:0019182 skos:exactMatch OMIM:601665 obesity semapv:UnspecifiedMatching +MONDO:0019187 skos:exactMatch omim.ps:180500 Axenfeld-Rieger syndrome semapv:UnspecifiedMatching +MONDO:0019188 skos:exactMatch omim.ps:180849 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching +MONDO:0019200 skos:exactMatch OMIM:268000 retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0019200 skos:exactMatch omim.ps:268000 Retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0019201 skos:exactMatch omim.ps:188580 Thyrotoxic periodic paralysis semapv:UnspecifiedMatching +MONDO:0019234 skos:exactMatch omim.ps:214100 Peroxisome biogenesis disorder semapv:UnspecifiedMatching +MONDO:0019249 skos:exactMatch omim.ps:607014 Mucopolysaccharidoses semapv:UnspecifiedMatching +MONDO:0019284 skos:exactMatch omim.ps:161050 Nail disorder, nonsyndromic congenital semapv:UnspecifiedMatching +MONDO:0019287 skos:exactMatch omim.ps:305100 Ectodermal dysplasia (select examples) semapv:UnspecifiedMatching +MONDO:0019312 skos:exactMatch omim.ps:203300 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching +MONDO:0019313 skos:exactMatch omim.ps:153100 Lymphatic malformation semapv:UnspecifiedMatching +MONDO:0019342 skos:exactMatch omim.ps:210600 Seckel syndrome semapv:UnspecifiedMatching +MONDO:0019347 skos:exactMatch omim.ps:270300 Peeling skin syndrome semapv:UnspecifiedMatching +MONDO:0019348 skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching +MONDO:0019349 skos:exactMatch OMIM:117550 sotos syndrome semapv:UnspecifiedMatching +MONDO:0019354 skos:exactMatch omim.ps:108300 Stickler syndrome semapv:UnspecifiedMatching +MONDO:0019375 skos:exactMatch omim.ps:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome semapv:UnspecifiedMatching +MONDO:0019391 skos:exactMatch omim.ps:227650 Fanconi anemia semapv:UnspecifiedMatching +MONDO:0019403 skos:exactMatch omim.ps:224120 Anemia, congenital dyserythropoietic semapv:UnspecifiedMatching +MONDO:0019407 skos:exactMatch OMIM:618150 saul-wilson syndrome semapv:UnspecifiedMatching +MONDO:0019409 skos:exactMatch OMIM:259750 osteoporosis, juvenile semapv:UnspecifiedMatching +MONDO:0019475 skos:exactMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:UnspecifiedMatching +MONDO:0019490 skos:exactMatch omim.ps:113900 Progressive familial heart block semapv:UnspecifiedMatching +MONDO:0019501 skos:exactMatch omim.ps:276900 Usher syndrome semapv:UnspecifiedMatching +MONDO:0019502 skos:exactMatch omim.ps:249500 Intellectual developmental disorder, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019503 skos:exactMatch omim.ps:107250 Anterior segment dysgenesis semapv:UnspecifiedMatching +MONDO:0019507 skos:exactMatch omim.ps:104500 Amelogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0019516 skos:exactMatch omim.ps:133780 Exudative vitreoretinopathy semapv:UnspecifiedMatching +MONDO:0019531 skos:exactMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:UnspecifiedMatching +MONDO:0019567 skos:exactMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:UnspecifiedMatching +MONDO:0019568 skos:exactMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:UnspecifiedMatching +MONDO:0019569 skos:exactMatch OMIM:216400 Cockayne syndrome a semapv:UnspecifiedMatching +MONDO:0019570 skos:exactMatch OMIM:133540 Cockayne syndrome B semapv:UnspecifiedMatching +MONDO:0019587 skos:exactMatch omim.ps:124900 Deafness, autosomal dominant semapv:UnspecifiedMatching +MONDO:0019588 skos:exactMatch OMIM:607197 deafness, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019588 skos:exactMatch omim.ps:220290 Deafness, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019623 skos:exactMatch omim.ps:106100 Angioedema, Hereditary semapv:UnspecifiedMatching +MONDO:0019625 skos:exactMatch omim.ps:607086 Aortic aneurysm, familial thoracic semapv:UnspecifiedMatching +MONDO:0019631 skos:exactMatch omim.ps:221900 Persistent hyperplastic primary vitreous semapv:UnspecifiedMatching +MONDO:0019648 skos:exactMatch omim.ps:200600 Achondrogenesis semapv:UnspecifiedMatching +MONDO:0019666 skos:exactMatch OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes semapv:UnspecifiedMatching +MONDO:0019675 skos:exactMatch omim.ps:271640 Spondyloepimetaphyseal dysplasia with joint laxity semapv:UnspecifiedMatching +MONDO:0019696 skos:exactMatch omim.ps:602875 Acromesomelic dysplasia semapv:UnspecifiedMatching +MONDO:0019719 skos:exactMatch omim.ps:610805 Congenital anomalies of kidney and urinary tract semapv:UnspecifiedMatching +MONDO:0019797 skos:exactMatch omim.ps:101800 Acrodysostosis semapv:UnspecifiedMatching +MONDO:0019852 skos:exactMatch omim.ps:311360 Premature ovarian failure semapv:UnspecifiedMatching +MONDO:0019917 skos:exactMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:UnspecifiedMatching +MONDO:0019942 skos:exactMatch omim.ps:108120 Arthrogryposis, distal semapv:UnspecifiedMatching +MONDO:0019947 skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:UnspecifiedMatching +MONDO:0019952 skos:exactMatch omim.ps:117000 Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) semapv:UnspecifiedMatching +MONDO:0019978 skos:exactMatch omim.ps:268310 Robinow syndrome semapv:UnspecifiedMatching +MONDO:0020066 skos:exactMatch omim.ps:130000 Ehlers-Danlos syndrome semapv:UnspecifiedMatching +MONDO:0020074 skos:exactMatch omim.ps:254800 Epilepsy, progressive myoclonic semapv:UnspecifiedMatching +MONDO:0020088 skos:exactMatch omim.ps:151660 Lipodystrophy, familial partial semapv:UnspecifiedMatching +MONDO:0020099 skos:exactMatch omim.ps:300751 Anemia, Sideroblastic semapv:UnspecifiedMatching +MONDO:0020108 skos:exactMatch OMIM:205700 anemia, autoimmune hemolytic semapv:UnspecifiedMatching +MONDO:0020119 skos:exactMatch omim.ps:309510 Intellectual developmental disorder, X-linked syndromic semapv:UnspecifiedMatching +MONDO:0020135 skos:exactMatch omim.ps:607596 Pontocerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0020290 skos:exactMatch omim.ps:606215 Atrioventricular septal defect semapv:UnspecifiedMatching +MONDO:0020310 skos:exactMatch omim.ps:604364 Epilepsy, familial focal, with variable foci semapv:UnspecifiedMatching +MONDO:0020341 skos:exactMatch omim.ps:300049 Periventricular nodular heterotopia semapv:UnspecifiedMatching +MONDO:0020364 skos:exactMatch omim.ps:122000 Corneal dystrophy, posterior polymorphous semapv:UnspecifiedMatching +MONDO:0020380 skos:exactMatch omim.ps:164400 Spinocerebellar ataxia semapv:UnspecifiedMatching +MONDO:0020381 skos:exactMatch omim.ps:169150 Macular dystrophy, patterned semapv:UnspecifiedMatching +MONDO:0020457 skos:exactMatch OMIM:619199 6-phosphogluconate dehydrogenase deficiency semapv:UnspecifiedMatching +MONDO:0020458 skos:exactMatch OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0020480 skos:exactMatch omim.ps:252150 Molybdenum cofactor deficiency semapv:UnspecifiedMatching +MONDO:0020485 skos:exactMatch OMIM:619542 king-denborough syndrome semapv:UnspecifiedMatching +MONDO:0020495 skos:exactMatch OMIM:617507 peho-like syndrome semapv:UnspecifiedMatching +MONDO:0020496 skos:exactMatch omim.ps:175780 Brain small vessel disease semapv:UnspecifiedMatching +MONDO:0020507 skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter 1 semapv:UnspecifiedMatching +MONDO:0020602 skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0020603 skos:exactMatch OMIM:302960 chondrodysplasia punctata 2, X-linked dominant semapv:UnspecifiedMatching +MONDO:0020607 skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:UnspecifiedMatching +MONDO:0020608 skos:exactMatch OMIM:110350 blood group--ahonen semapv:UnspecifiedMatching +MONDO:0020609 skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching +MONDO:0020610 skos:exactMatch OMIM:110500 blood group, diego system semapv:UnspecifiedMatching +MONDO:0020611 skos:exactMatch OMIM:110900 blood group--kell system semapv:UnspecifiedMatching +MONDO:0020612 skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching +MONDO:0020613 skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching +MONDO:0020614 skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching +MONDO:0020615 skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching +MONDO:0020616 skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching +MONDO:0020617 skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching +MONDO:0020618 skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching +MONDO:0020619 skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching +MONDO:0020620 skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching +MONDO:0020621 skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching +MONDO:0020622 skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching +MONDO:0020623 skos:exactMatch OMIM:112000 blood group--ul system semapv:UnspecifiedMatching +MONDO:0020624 skos:exactMatch OMIM:112010 blood group--waldner iia semapv:UnspecifiedMatching +MONDO:0020625 skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching +MONDO:0020626 skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching +MONDO:0020627 skos:exactMatch omim.ps:617711 semapv:UnspecifiedMatching +MONDO:0020628 skos:exactMatch OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:UnspecifiedMatching +MONDO:0020629 skos:exactMatch omim.ps:210900 Microcephaly, growth restriction and increased sister chromatid exchange semapv:UnspecifiedMatching +MONDO:0020630 skos:exactMatch OMIM:617711 developmental and epileptic encephalopathy 91 semapv:UnspecifiedMatching +MONDO:0020631 skos:exactMatch OMIM:617829 developmental and epileptic encephalopathy 92 semapv:UnspecifiedMatching +MONDO:0020632 skos:exactMatch OMIM:618012 developmental and epileptic encephalopathy 93 semapv:UnspecifiedMatching +MONDO:0020642 skos:exactMatch omim.ps:173900 Polycystic kidney disease semapv:UnspecifiedMatching +MONDO:0020645 skos:exactMatch omim.ps:607634 Osteopetrosis, autosomal dominant semapv:UnspecifiedMatching +MONDO:0020647 skos:exactMatch OMIM:618142 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome semapv:UnspecifiedMatching +MONDO:0020667 skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:UnspecifiedMatching +MONDO:0020668 skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching +MONDO:0020671 skos:exactMatch OMIM:601367 stroke, ischemic semapv:UnspecifiedMatching +MONDO:0020681 skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:UnspecifiedMatching +MONDO:0020682 skos:exactMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:UnspecifiedMatching +MONDO:0020684 skos:exactMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:UnspecifiedMatching +MONDO:0020692 skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:UnspecifiedMatching +MONDO:0020705 skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:UnspecifiedMatching +MONDO:0020712 skos:exactMatch OMIM:400044 46,xy sex reversal 1 semapv:UnspecifiedMatching +MONDO:0020713 skos:exactMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0020714 skos:exactMatch OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0020715 skos:exactMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:UnspecifiedMatching +MONDO:0020716 skos:exactMatch OMIM:274400 thyroid dyshormonogenesis 1 semapv:UnspecifiedMatching +MONDO:0020717 skos:exactMatch OMIM:194300 woolly hair, autosomal dominant semapv:UnspecifiedMatching +MONDO:0020718 skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:UnspecifiedMatching +MONDO:0020721 skos:exactMatch OMIM:300751 anemia, sideroblastic, 1 semapv:UnspecifiedMatching +MONDO:0020722 skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate, 1 semapv:UnspecifiedMatching +MONDO:0020723 skos:exactMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:UnspecifiedMatching +MONDO:0020724 skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:UnspecifiedMatching +MONDO:0020726 skos:exactMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:UnspecifiedMatching +MONDO:0020727 skos:exactMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:UnspecifiedMatching +MONDO:0020728 skos:exactMatch OMIM:220150 hypouricemia, renal, 1 semapv:UnspecifiedMatching +MONDO:0020729 skos:exactMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:UnspecifiedMatching +MONDO:0020730 skos:exactMatch OMIM:115430 carpal tunnel syndrome 1 semapv:UnspecifiedMatching +MONDO:0020732 skos:exactMatch omim.ps:176670 Progeria semapv:UnspecifiedMatching +MONDO:0020733 skos:exactMatch OMIM:185800 symphalangism, proximal, 1a semapv:UnspecifiedMatching +MONDO:0020734 skos:exactMatch OMIM:612874 erythrocyte amp deaminase deficiency semapv:UnspecifiedMatching +MONDO:0020735 skos:exactMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:UnspecifiedMatching +MONDO:0020736 skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:UnspecifiedMatching +MONDO:0020737 skos:exactMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:UnspecifiedMatching +MONDO:0020738 skos:exactMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:UnspecifiedMatching +MONDO:0020739 skos:exactMatch OMIM:143880 hypercalcemia, infantile, 1 semapv:UnspecifiedMatching +MONDO:0020740 skos:exactMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:UnspecifiedMatching +MONDO:0020741 skos:exactMatch OMIM:266100 epilepsy, early-onset, 4, vitamin b6-dependent semapv:UnspecifiedMatching +MONDO:0020742 skos:exactMatch OMIM:212540 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome semapv:UnspecifiedMatching +MONDO:0020745 skos:exactMatch OMIM:115000 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome semapv:UnspecifiedMatching +MONDO:0020746 skos:exactMatch OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b semapv:UnspecifiedMatching +MONDO:0020747 skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:UnspecifiedMatching +MONDO:0020748 skos:exactMatch OMIM:618666 sitosterolemia 2 semapv:UnspecifiedMatching +MONDO:0020749 skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:UnspecifiedMatching +MONDO:0020750 skos:exactMatch OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 semapv:UnspecifiedMatching +MONDO:0020751 skos:exactMatch OMIM:618182 orthostatic hypotension 2 semapv:UnspecifiedMatching +MONDO:0020754 skos:exactMatch OMIM:155310 visceral myopathy 1 semapv:UnspecifiedMatching +MONDO:0020756 skos:exactMatch OMIM:141500 migraine, familial hemiplegic, 1 semapv:UnspecifiedMatching +MONDO:0020759 skos:exactMatch OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0020762 skos:exactMatch OMIM:618646 diencephalic-mesencephalic junction dysplasia syndrome 2 semapv:UnspecifiedMatching +MONDO:0020763 skos:exactMatch OMIM:618332 menke-hennekam syndrome 1 semapv:UnspecifiedMatching +MONDO:0020765 skos:exactMatch OMIM:618184 neuropathy, congenital hypomyelinating, 2 semapv:UnspecifiedMatching +MONDO:0020766 skos:exactMatch OMIM:618186 neuropathy, congenital hypomyelinating, 3 semapv:UnspecifiedMatching +MONDO:0020768 skos:exactMatch omim.ps:304500 Deafness, X-linked semapv:UnspecifiedMatching +MONDO:0020769 skos:exactMatch OMIM:618333 menke-hennekam syndrome 2 semapv:UnspecifiedMatching +MONDO:0020770 skos:exactMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:UnspecifiedMatching +MONDO:0020771 skos:exactMatch omim.ps:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy semapv:UnspecifiedMatching +MONDO:0020772 skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0020774 skos:exactMatch omim.ps:618332 Menke-Hennekam syndrome semapv:UnspecifiedMatching +MONDO:0020775 skos:exactMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:UnspecifiedMatching +MONDO:0020777 skos:exactMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:UnspecifiedMatching +MONDO:0020778 skos:exactMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:UnspecifiedMatching +MONDO:0020780 skos:exactMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:UnspecifiedMatching +MONDO:0020781 skos:exactMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:UnspecifiedMatching +MONDO:0020783 skos:exactMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:UnspecifiedMatching +MONDO:0020784 skos:exactMatch OMIM:612975 short sleep, familial natural, 1 semapv:UnspecifiedMatching +MONDO:0020785 skos:exactMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:UnspecifiedMatching +MONDO:0020786 skos:exactMatch OMIM:618591 short sleep, familial natural, 2 semapv:UnspecifiedMatching +MONDO:0020787 skos:exactMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:UnspecifiedMatching +MONDO:0020788 skos:exactMatch OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 semapv:UnspecifiedMatching +MONDO:0020789 skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:UnspecifiedMatching +MONDO:0020790 skos:exactMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:UnspecifiedMatching +MONDO:0020791 skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:UnspecifiedMatching +MONDO:0020792 skos:exactMatch OMIM:126950 dwarfism with tall vertebrae semapv:UnspecifiedMatching +MONDO:0020793 skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:UnspecifiedMatching +MONDO:0020795 skos:exactMatch OMIM:618908 silver-russell syndrome 5 semapv:UnspecifiedMatching +MONDO:0020796 skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:UnspecifiedMatching +MONDO:0020798 skos:exactMatch OMIM:618883 hypoparathyroidism, familial isolated, 2 semapv:UnspecifiedMatching +MONDO:0020811 skos:exactMatch omim.ps:124000 Mitochondrial complex III deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0020820 skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:UnspecifiedMatching +MONDO:0020831 skos:exactMatch omim.ps:617660 Vertebral, cardiac, renal, and limb defects syndrome semapv:UnspecifiedMatching +MONDO:0020835 skos:exactMatch OMIM:617973 methemoglobinemia, alpha iia semapv:UnspecifiedMatching +MONDO:0020836 skos:exactMatch omim.ps:209850 Autism, susceptiblity to semapv:UnspecifiedMatching +MONDO:0020837 skos:exactMatch OMIM:617996 oocyte/zygote/embryo maturation arrest 5 semapv:UnspecifiedMatching +MONDO:0020840 skos:exactMatch OMIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia semapv:UnspecifiedMatching +MONDO:0020841 skos:exactMatch OMIM:618056 neurodevelopmental disorder with cerebellar atrophy and with or without seizures semapv:UnspecifiedMatching +MONDO:0020845 skos:exactMatch OMIM:618098 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 semapv:UnspecifiedMatching +MONDO:0020846 skos:exactMatch OMIM:618103 intellectual developmental disorder, autosomal recessive 64 semapv:UnspecifiedMatching +MONDO:0020847 skos:exactMatch OMIM:618106 intellectual developmental disorder, autosomal dominant 58 semapv:UnspecifiedMatching +MONDO:0020848 skos:exactMatch OMIM:618107 osteopetrosis, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0020849 skos:exactMatch OMIM:618108 immunodeficiency 57 with autoinflammation semapv:UnspecifiedMatching +MONDO:0020850 skos:exactMatch OMIM:618109 intellectual developmental disorder, autosomal recessive 65 semapv:UnspecifiedMatching +MONDO:0020851 skos:exactMatch OMIM:618110 spermatogenic failure 30 semapv:UnspecifiedMatching +MONDO:0020852 skos:exactMatch OMIM:618112 spermatogenic failure 31 semapv:UnspecifiedMatching +MONDO:0020853 skos:exactMatch OMIM:618113 encephalitis/encephalopathy, mild, with reversible myelin vacuolization semapv:UnspecifiedMatching +MONDO:0020854 skos:exactMatch OMIM:618114 liddle syndrome 2 semapv:UnspecifiedMatching +MONDO:0020855 skos:exactMatch OMIM:618115 spermatogenic failure 32 semapv:UnspecifiedMatching +MONDO:0020856 skos:exactMatch OMIM:618116 bone marrow failure syndrome 4 semapv:UnspecifiedMatching +MONDO:0020857 skos:exactMatch OMIM:618117 ovarian dysgenesis 7 semapv:UnspecifiedMatching +MONDO:0020858 skos:exactMatch OMIM:618120 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 5 semapv:UnspecifiedMatching +MONDO:0020927 skos:exactMatch omim.ps:174200 Polydactyly, postaxial semapv:UnspecifiedMatching +MONDO:0020937 skos:exactMatch omim.ps:178110 Contractures, pterygia, and variable skeletal fusions syndrome semapv:UnspecifiedMatching +MONDO:0021001 skos:exactMatch OMIM:235200 hemochromatosis, iia 1 semapv:UnspecifiedMatching +MONDO:0021003 skos:exactMatch OMIM:603596 polydactyly semapv:UnspecifiedMatching +MONDO:0021011 skos:exactMatch OMIM:118700 chorea, benign hereditary semapv:UnspecifiedMatching +MONDO:0021012 skos:exactMatch OMIM:608207 kala-azar, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0021013 skos:exactMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:UnspecifiedMatching +MONDO:0021018 skos:exactMatch OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0021019 skos:exactMatch OMIM:300500 albinism, ocular, iia 1 semapv:UnspecifiedMatching +MONDO:0021020 skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0021021 skos:exactMatch OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching +MONDO:0021022 skos:exactMatch omim.ps:149400 Hyperekplexia semapv:UnspecifiedMatching +MONDO:0021024 skos:exactMatch OMIM:611162 malaria, susceptibility to semapv:UnspecifiedMatching +MONDO:0021025 skos:exactMatch OMIM:118900 cirrhosis, familial semapv:UnspecifiedMatching +MONDO:0021035 skos:exactMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:UnspecifiedMatching +MONDO:0021055 skos:exactMatch omim.ps:175100 Familial adenomatous polyposis semapv:UnspecifiedMatching +MONDO:0021056 skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:UnspecifiedMatching +MONDO:0021083 skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:UnspecifiedMatching +MONDO:0021093 skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:UnspecifiedMatching +MONDO:0021094 skos:exactMatch omim.ps:300755 Immunodeficiency (select examples) semapv:UnspecifiedMatching +MONDO:0021105 skos:exactMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0021107 skos:exactMatch omim.ps:161400 Narcolepsy semapv:UnspecifiedMatching +MONDO:0021272 skos:exactMatch omim.ps:223360 Orthostatic hypotension semapv:UnspecifiedMatching +MONDO:0021533 skos:exactMatch OMIM:114900 carcinoid tumors, intestinal semapv:UnspecifiedMatching +MONDO:0021547 skos:exactMatch OMIM:617607 amelogenesis imperfecta, iia 3b semapv:UnspecifiedMatching +MONDO:0021569 skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0021571 skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0021573 skos:exactMatch OMIM:616780 oocyte/zygote/embryo maturation arrest 2 semapv:UnspecifiedMatching +MONDO:0021574 skos:exactMatch OMIM:617712 oocyte/zygote/embryo maturation arrest 3 semapv:UnspecifiedMatching +MONDO:0021575 skos:exactMatch OMIM:617743 oocyte/zygote/embryo maturation arrest 4 semapv:UnspecifiedMatching +MONDO:0021582 skos:exactMatch OMIM:150900 lentigines semapv:UnspecifiedMatching +MONDO:0021944 skos:exactMatch omim.ps:609129 Auditory neuropathy semapv:UnspecifiedMatching +MONDO:0022109 skos:exactMatch OMIM:116850 catatrichy semapv:UnspecifiedMatching +MONDO:0022113 skos:exactMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:UnspecifiedMatching +MONDO:0022316 skos:exactMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:UnspecifiedMatching +MONDO:0023122 skos:exactMatch OMIM:176807 prostate cancer semapv:UnspecifiedMatching +MONDO:0023655 skos:exactMatch OMIM:619281 immunodeficiency 14b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0023657 skos:exactMatch OMIM:619320 intellectual developmental disorder, autosomal dominant 65 semapv:UnspecifiedMatching +MONDO:0023659 skos:exactMatch OMIM:619340 developmental and epileptic encephalopathy 96 semapv:UnspecifiedMatching +MONDO:0023660 skos:exactMatch OMIM:619363 angioedema, hereditary, 6 semapv:UnspecifiedMatching +MONDO:0023662 skos:exactMatch OMIM:619369 lymphatic malformation 10 semapv:UnspecifiedMatching +MONDO:0023664 skos:exactMatch OMIM:619379 spermatogenic failure 54 semapv:UnspecifiedMatching +MONDO:0023670 skos:exactMatch OMIM:619471 bardet-biedl syndrome 20 semapv:UnspecifiedMatching +MONDO:0023671 skos:exactMatch OMIM:619473 oculopharyngodistal myopathy 3 semapv:UnspecifiedMatching +MONDO:0023807 skos:exactMatch OMIM:157200 midphalangeal hair semapv:UnspecifiedMatching +MONDO:0023873 skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching +MONDO:0023880 skos:exactMatch omim.ps:193670 WHIM syndrome semapv:UnspecifiedMatching +MONDO:0023910 skos:exactMatch omim.ps:212720 Martsolf syndrome semapv:UnspecifiedMatching +MONDO:0023961 skos:exactMatch omim.ps:243180 Visceral neuropathy, familial semapv:UnspecifiedMatching +MONDO:0024189 skos:exactMatch omim.ps:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset semapv:UnspecifiedMatching +MONDO:0024193 skos:exactMatch omim.ps:617068 Portal hypertension, noncirrhotic semapv:UnspecifiedMatching +MONDO:0024264 skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:UnspecifiedMatching +MONDO:0024265 skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:UnspecifiedMatching +MONDO:0024266 skos:exactMatch OMIM:617039 patent ductus arteriosus 3 semapv:UnspecifiedMatching +MONDO:0024293 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching +MONDO:0024309 skos:exactMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:UnspecifiedMatching +MONDO:0024455 skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0024456 skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:UnspecifiedMatching +MONDO:0024457 skos:exactMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:UnspecifiedMatching +MONDO:0024462 skos:exactMatch omim.ps:155600 Melanoma, cutaneous malignant semapv:UnspecifiedMatching +MONDO:0024463 skos:exactMatch OMIM:233300 ovarian dysgenesis 1 semapv:UnspecifiedMatching +MONDO:0024464 skos:exactMatch OMIM:613038 pituitary hormone deficiency, combined or isolated, 1 semapv:UnspecifiedMatching +MONDO:0024465 skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:UnspecifiedMatching +MONDO:0024466 skos:exactMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:UnspecifiedMatching +MONDO:0024498 skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:UnspecifiedMatching +MONDO:0024506 skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:UnspecifiedMatching +MONDO:0024507 skos:exactMatch OMIM:106210 aniridia 1 semapv:UnspecifiedMatching +MONDO:0024508 skos:exactMatch OMIM:613339 epilepsy, hot water, 1 semapv:UnspecifiedMatching +MONDO:0024512 skos:exactMatch omim.ps:106300 Spondyloarthropathy, susceptibility to semapv:UnspecifiedMatching +MONDO:0024516 skos:exactMatch omim.ps:142690 Acne inversa semapv:UnspecifiedMatching +MONDO:0024517 skos:exactMatch OMIM:162091 schwannomatosis 1 semapv:UnspecifiedMatching +MONDO:0024519 skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:UnspecifiedMatching +MONDO:0024520 skos:exactMatch OMIM:617805 renal hypodysplasia/aplasia 3 semapv:UnspecifiedMatching +MONDO:0024521 skos:exactMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:UnspecifiedMatching +MONDO:0024522 skos:exactMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:UnspecifiedMatching +MONDO:0024523 skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:UnspecifiedMatching +MONDO:0024524 skos:exactMatch OMIM:127500 dyschromatosis universalis hereditaria 1 semapv:UnspecifiedMatching +MONDO:0024525 skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:UnspecifiedMatching +MONDO:0024526 skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:UnspecifiedMatching +MONDO:0024527 skos:exactMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:UnspecifiedMatching +MONDO:0024528 skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:UnspecifiedMatching +MONDO:0024529 skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:UnspecifiedMatching +MONDO:0024530 skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:UnspecifiedMatching +MONDO:0024531 skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:UnspecifiedMatching +MONDO:0024532 skos:exactMatch OMIM:166780 otofaciocervical syndrome 1 semapv:UnspecifiedMatching +MONDO:0024533 skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:UnspecifiedMatching +MONDO:0024534 skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:UnspecifiedMatching +MONDO:0024535 skos:exactMatch OMIM:182250 singleton-merten syndrome 1 semapv:UnspecifiedMatching +MONDO:0024536 skos:exactMatch OMIM:202200 glucocorticoid deficiency 1 semapv:UnspecifiedMatching +MONDO:0024537 skos:exactMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:UnspecifiedMatching +MONDO:0024538 skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:UnspecifiedMatching +MONDO:0024539 skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:UnspecifiedMatching +MONDO:0024540 skos:exactMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:UnspecifiedMatching +MONDO:0024541 skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:UnspecifiedMatching +MONDO:0024542 skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:UnspecifiedMatching +MONDO:0024543 skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:UnspecifiedMatching +MONDO:0024544 skos:exactMatch OMIM:234580 heimler syndrome 1 semapv:UnspecifiedMatching +MONDO:0024545 skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:UnspecifiedMatching +MONDO:0024546 skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:UnspecifiedMatching +MONDO:0024547 skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:UnspecifiedMatching +MONDO:0024548 skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:UnspecifiedMatching +MONDO:0024549 skos:exactMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:UnspecifiedMatching +MONDO:0024550 skos:exactMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:UnspecifiedMatching +MONDO:0024551 skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:UnspecifiedMatching +MONDO:0024552 skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:UnspecifiedMatching +MONDO:0024553 skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:UnspecifiedMatching +MONDO:0024554 skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:UnspecifiedMatching +MONDO:0024555 skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:UnspecifiedMatching +MONDO:0024556 skos:exactMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:UnspecifiedMatching +MONDO:0024557 skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:UnspecifiedMatching +MONDO:0024558 skos:exactMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:UnspecifiedMatching +MONDO:0024559 skos:exactMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:UnspecifiedMatching +MONDO:0024560 skos:exactMatch OMIM:607411 patent ductus arteriosus 1 semapv:UnspecifiedMatching +MONDO:0024561 skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:UnspecifiedMatching +MONDO:0024562 skos:exactMatch OMIM:608567 sick sinus syndrome 1 semapv:UnspecifiedMatching +MONDO:0024563 skos:exactMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0024564 skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:UnspecifiedMatching +MONDO:0024565 skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:UnspecifiedMatching +MONDO:0024566 skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:UnspecifiedMatching +MONDO:0024567 skos:exactMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:UnspecifiedMatching +MONDO:0024568 skos:exactMatch OMIM:615438 infantile liver failure syndrome 1 semapv:UnspecifiedMatching +MONDO:0024569 skos:exactMatch OMIM:616648 optic atrophy 8 semapv:UnspecifiedMatching +MONDO:0024570 skos:exactMatch OMIM:617343 hyperparathyroidism 4 semapv:UnspecifiedMatching +MONDO:0024573 skos:exactMatch omim.ps:192600 Cardiomyopathy, familial hypertrophic semapv:UnspecifiedMatching +MONDO:0024607 skos:exactMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:UnspecifiedMatching +MONDO:0024633 skos:exactMatch OMIM:608026 hypertensive nephropathy semapv:UnspecifiedMatching +MONDO:0024770 skos:exactMatch OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching +MONDO:0024771 skos:exactMatch OMIM:301075 myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching +MONDO:0024772 skos:exactMatch OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge iia semapv:UnspecifiedMatching +MONDO:0024773 skos:exactMatch OMIM:301077 spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching +MONDO:0024777 skos:exactMatch OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked semapv:UnspecifiedMatching +MONDO:0024781 skos:exactMatch OMIM:301082 immunodeficiency 102 semapv:UnspecifiedMatching +MONDO:0024996 skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching +MONDO:0025193 skos:exactMatch omim.ps:164310 Oculopharyngodistal myopathy semapv:UnspecifiedMatching +MONDO:0025351 skos:exactMatch OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0025353 skos:exactMatch OMIM:301058 developmental and epileptic encephalopathy 90 semapv:UnspecifiedMatching +MONDO:0025354 skos:exactMatch OMIM:301059 spermatogenic failure, x-linked, 3 semapv:UnspecifiedMatching +MONDO:0025356 skos:exactMatch OMIM:301060 azoospermia, obstructive, with nephrolithiasis semapv:UnspecifiedMatching +MONDO:0025445 skos:exactMatch omim.ps:314580 Wieacker-Wolff syndrome semapv:UnspecifiedMatching +MONDO:0025622 skos:exactMatch OMIM:500013 charcot-marie-tooth disease, axonal, mitochondrial form, 1 semapv:UnspecifiedMatching +MONDO:0025690 skos:exactMatch OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 semapv:UnspecifiedMatching +MONDO:0025691 skos:exactMatch OMIM:619291 dystonia 30 semapv:UnspecifiedMatching +MONDO:0025699 skos:exactMatch OMIM:619325 coffin-siris syndrome 12 semapv:UnspecifiedMatching +MONDO:0025701 skos:exactMatch OMIM:619328 leukodystrophy, hypomyelinating, 22 semapv:UnspecifiedMatching +MONDO:0025708 skos:exactMatch OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 semapv:UnspecifiedMatching +MONDO:0025712 skos:exactMatch OMIM:619360 angioedema, hereditary, 4 semapv:UnspecifiedMatching +MONDO:0025713 skos:exactMatch OMIM:619366 angioedema, hereditary, 7 semapv:UnspecifiedMatching +MONDO:0025986 skos:exactMatch omim.ps:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:UnspecifiedMatching +MONDO:0026404 skos:exactMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:UnspecifiedMatching +MONDO:0026426 skos:exactMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:UnspecifiedMatching +MONDO:0026720 skos:exactMatch OMIM:301020 mitochondrial complex 1 deficiency, nuclear iia 12 semapv:UnspecifiedMatching +MONDO:0026721 skos:exactMatch OMIM:301021 mitochondrial complex 1 deficiency, nuclear iia 30 semapv:UnspecifiedMatching +MONDO:0026722 skos:exactMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:UnspecifiedMatching +MONDO:0026723 skos:exactMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:UnspecifiedMatching +MONDO:0026724 skos:exactMatch OMIM:301025 paganini-miozzo syndrome semapv:UnspecifiedMatching +MONDO:0026726 skos:exactMatch OMIM:301028 nephrotic syndrome, iia 20 semapv:UnspecifiedMatching +MONDO:0026727 skos:exactMatch OMIM:301029 shukla-vernon syndrome semapv:UnspecifiedMatching +MONDO:0026729 skos:exactMatch OMIM:301031 congenital disorder of glycosylation, iia icc semapv:UnspecifiedMatching +MONDO:0026730 skos:exactMatch OMIM:301032 basilicata-akhtar syndrome semapv:UnspecifiedMatching +MONDO:0026731 skos:exactMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:UnspecifiedMatching +MONDO:0026732 skos:exactMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:UnspecifiedMatching +MONDO:0026733 skos:exactMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia semapv:UnspecifiedMatching +MONDO:0026762 skos:exactMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:UnspecifiedMatching +MONDO:0026763 skos:exactMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:UnspecifiedMatching +MONDO:0026765 skos:exactMatch OMIM:301045 congenital disorder of glycosylation, iia iir semapv:UnspecifiedMatching +MONDO:0026767 skos:exactMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:UnspecifiedMatching +MONDO:0026768 skos:exactMatch OMIM:301052 warfarin sensitivity, X-linked semapv:UnspecifiedMatching +MONDO:0026771 skos:exactMatch OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects semapv:UnspecifiedMatching +MONDO:0026777 skos:exactMatch OMIM:301054 vexas syndrome semapv:UnspecifiedMatching +MONDO:0026856 skos:exactMatch OMIM:306995 homosexuality 1 semapv:UnspecifiedMatching +MONDO:0027048 skos:exactMatch OMIM:400047 deafness, Y-linked 2 semapv:UnspecifiedMatching +MONDO:0027068 skos:exactMatch OMIM:500014 mitochondrial complex 1 deficiency, mitochondrial iia 1 semapv:UnspecifiedMatching +MONDO:0027069 skos:exactMatch OMIM:500015 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial iia 1 semapv:UnspecifiedMatching +MONDO:0027407 skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:UnspecifiedMatching +MONDO:0027416 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching +MONDO:0027451 skos:exactMatch OMIM:617403 cutis laxa, autosomal recessive, iia 2d semapv:UnspecifiedMatching +MONDO:0027462 skos:exactMatch OMIM:617402 cutis laxa, autosomal recessive, iia 2c semapv:UnspecifiedMatching +MONDO:0027676 skos:exactMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:UnspecifiedMatching +MONDO:0027694 skos:exactMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:UnspecifiedMatching +MONDO:0029130 skos:exactMatch OMIM:618123 polydactyly, postaxial, iia a8 semapv:UnspecifiedMatching +MONDO:0029131 skos:exactMatch OMIM:618124 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development semapv:UnspecifiedMatching +MONDO:0029132 skos:exactMatch OMIM:618126 liddle syndrome 3 semapv:UnspecifiedMatching +MONDO:0029133 skos:exactMatch OMIM:618129 muscular dystrophy, limb-girdle, autosomal dominant 4 semapv:UnspecifiedMatching +MONDO:0029134 skos:exactMatch OMIM:618131 immunodeficiency 58 semapv:UnspecifiedMatching +MONDO:0029135 skos:exactMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:UnspecifiedMatching +MONDO:0029136 skos:exactMatch OMIM:618138 muscular dystrophy, limb-girdle, autosomal recessive 23 semapv:UnspecifiedMatching +MONDO:0029137 skos:exactMatch OMIM:618140 deafness, autosomal dominant 74 semapv:UnspecifiedMatching +MONDO:0029138 skos:exactMatch OMIM:618141 developmental and epileptic encephalopathy 67 semapv:UnspecifiedMatching +MONDO:0029140 skos:exactMatch OMIM:618143 developmental and epileptic encephalopathy 95 semapv:UnspecifiedMatching +MONDO:0029141 skos:exactMatch OMIM:618144 usher syndrome, iia 4 semapv:UnspecifiedMatching +MONDO:0029142 skos:exactMatch OMIM:618145 deafness, autosomal recessive 111 semapv:UnspecifiedMatching +MONDO:0029143 skos:exactMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:UnspecifiedMatching +MONDO:0029144 skos:exactMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:UnspecifiedMatching +MONDO:0029145 skos:exactMatch OMIM:618149 orofacial cleft 8 semapv:UnspecifiedMatching +MONDO:0029147 skos:exactMatch OMIM:618152 spermatogenic failure 33 semapv:UnspecifiedMatching +MONDO:0029148 skos:exactMatch OMIM:618153 spermatogenic failure 34 semapv:UnspecifiedMatching +MONDO:0029465 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:UnspecifiedMatching +MONDO:0030004 skos:exactMatch OMIM:618830 autism, susceptibility to, 20 semapv:UnspecifiedMatching +MONDO:0030005 skos:exactMatch OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay semapv:UnspecifiedMatching +MONDO:0030006 skos:exactMatch OMIM:618835 combined oxidative phosphorylation deficiency 40 semapv:UnspecifiedMatching +MONDO:0030007 skos:exactMatch OMIM:618838 combined oxidative phosphorylation deficiency 41 semapv:UnspecifiedMatching +MONDO:0030008 skos:exactMatch OMIM:618839 combined oxidative phosphorylation deficiency 42 semapv:UnspecifiedMatching +MONDO:0030009 skos:exactMatch OMIM:618840 alopecia-intellectual disability syndrome 4 semapv:UnspecifiedMatching +MONDO:0030010 skos:exactMatch OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia semapv:UnspecifiedMatching +MONDO:0030012 skos:exactMatch OMIM:618846 diets-jongmans syndrome semapv:UnspecifiedMatching +MONDO:0030013 skos:exactMatch OMIM:618847 immunodeficiency 66 semapv:UnspecifiedMatching +MONDO:0030014 skos:exactMatch OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 semapv:UnspecifiedMatching +MONDO:0030015 skos:exactMatch OMIM:618849 bone marrow failure syndrome 6 semapv:UnspecifiedMatching +MONDO:0030017 skos:exactMatch OMIM:618851 combined oxidative phosphorylation deficiency 43 semapv:UnspecifiedMatching +MONDO:0030018 skos:exactMatch OMIM:618852 autoinflammation with episodic fever and lymphadenopathy semapv:UnspecifiedMatching +MONDO:0030019 skos:exactMatch OMIM:618853 anauxetic dysplasia 3 semapv:UnspecifiedMatching +MONDO:0030020 skos:exactMatch OMIM:618855 combined oxidative phosphorylation deficiency 44 semapv:UnspecifiedMatching +MONDO:0030024 skos:exactMatch OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities semapv:UnspecifiedMatching +MONDO:0030025 skos:exactMatch OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures semapv:UnspecifiedMatching +MONDO:0030026 skos:exactMatch OMIM:618863 retinal dystrophy with leukodystrophy semapv:UnspecifiedMatching +MONDO:0030027 skos:exactMatch OMIM:618866 tremor, hereditary essential, 6 semapv:UnspecifiedMatching +MONDO:0030028 skos:exactMatch OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline semapv:UnspecifiedMatching +MONDO:0030029 skos:exactMatch OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age semapv:UnspecifiedMatching +MONDO:0030030 skos:exactMatch OMIM:618872 nizon-isidor syndrome semapv:UnspecifiedMatching +MONDO:0030031 skos:exactMatch OMIM:618873 lissencephaly 10 semapv:UnspecifiedMatching +MONDO:0030033 skos:exactMatch OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications semapv:UnspecifiedMatching +MONDO:0030034 skos:exactMatch OMIM:618876 epilepsy, progressive myoclonic, 11 semapv:UnspecifiedMatching +MONDO:0030035 skos:exactMatch OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome semapv:UnspecifiedMatching +MONDO:0030036 skos:exactMatch OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome semapv:UnspecifiedMatching +MONDO:0030037 skos:exactMatch OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures semapv:UnspecifiedMatching +MONDO:0030038 skos:exactMatch OMIM:618880 glaucoma, primary closed-angle semapv:UnspecifiedMatching +MONDO:0030042 skos:exactMatch OMIM:618884 proteinuria, chronic benign semapv:UnspecifiedMatching +MONDO:0030043 skos:exactMatch OMIM:618885 congenital disorder of glycosylation, iia iit semapv:UnspecifiedMatching +MONDO:0030044 skos:exactMatch OMIM:618886 pseudo-torch syndrome 3 semapv:UnspecifiedMatching +MONDO:0030045 skos:exactMatch OMIM:618889 liberfarb syndrome semapv:UnspecifiedMatching +MONDO:0030046 skos:exactMatch OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity semapv:UnspecifiedMatching +MONDO:0030047 skos:exactMatch OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome semapv:UnspecifiedMatching +MONDO:0030048 skos:exactMatch OMIM:618892 harderoporphyria semapv:UnspecifiedMatching +MONDO:0030049 skos:exactMatch OMIM:618901 46,xx sex reversal 5 semapv:UnspecifiedMatching +MONDO:0030051 skos:exactMatch OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:UnspecifiedMatching +MONDO:0030054 skos:exactMatch OMIM:618910 developmental and epileptic encephalopathy 86 semapv:UnspecifiedMatching +MONDO:0030055 skos:exactMatch OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0030056 skos:exactMatch OMIM:618913 fanconi renotubular syndrome 5 semapv:UnspecifiedMatching +MONDO:0030057 skos:exactMatch OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome semapv:UnspecifiedMatching +MONDO:0030058 skos:exactMatch OMIM:618915 deafness, autosomal dominant 77 semapv:UnspecifiedMatching +MONDO:0030059 skos:exactMatch OMIM:618916 developmental and epileptic encephalopathy 87 semapv:UnspecifiedMatching +MONDO:0030060 skos:exactMatch OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0030061 skos:exactMatch OMIM:618918 periventricular nodular heterotopia 9 semapv:UnspecifiedMatching +MONDO:0030062 skos:exactMatch OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 semapv:UnspecifiedMatching +MONDO:0030063 skos:exactMatch OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities semapv:UnspecifiedMatching +MONDO:0030064 skos:exactMatch OMIM:618924 episodic ataxia, iia 9 semapv:UnspecifiedMatching +MONDO:0030065 skos:exactMatch OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:UnspecifiedMatching +MONDO:0030066 skos:exactMatch OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 semapv:UnspecifiedMatching +MONDO:0030067 skos:exactMatch OMIM:618939 treacher collins syndrome 4 semapv:UnspecifiedMatching +MONDO:0030069 skos:exactMatch OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching +MONDO:0030070 skos:exactMatch OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility semapv:UnspecifiedMatching +MONDO:0030071 skos:exactMatch OMIM:618955 retinitis pigmentosa 89 semapv:UnspecifiedMatching +MONDO:0030072 skos:exactMatch OMIM:618959 developmental and epileptic encephalopathy 88 semapv:UnspecifiedMatching +MONDO:0030073 skos:exactMatch OMIM:618960 mitchell syndrome semapv:UnspecifiedMatching +MONDO:0030074 skos:exactMatch OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy semapv:UnspecifiedMatching +MONDO:0030077 skos:exactMatch OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 semapv:UnspecifiedMatching +MONDO:0030087 skos:exactMatch OMIM:618856 diabetes mellitus, permanent neonatal, 2 semapv:UnspecifiedMatching +MONDO:0030088 skos:exactMatch OMIM:618857 diabetes mellitus, permanent neonatal, 3 semapv:UnspecifiedMatching +MONDO:0030089 skos:exactMatch OMIM:618858 diabetes mellitus, permanent neonatal, 4 semapv:UnspecifiedMatching +MONDO:0030105 skos:exactMatch OMIM:618881 galactosemia 4 semapv:UnspecifiedMatching +MONDO:0030116 skos:exactMatch OMIM:618905 silver-russell syndrome 2 semapv:UnspecifiedMatching +MONDO:0030118 skos:exactMatch OMIM:618907 silver-russell syndrome 4 semapv:UnspecifiedMatching +MONDO:0030134 skos:exactMatch OMIM:618940 oculopharyngodistal myopathy 2 semapv:UnspecifiedMatching +MONDO:0030258 skos:exactMatch OMIM:619301 pontocerebellar hypoplasia, iia 14 semapv:UnspecifiedMatching +MONDO:0030259 skos:exactMatch OMIM:619302 pontocerebellar hypoplasia, iia 15 semapv:UnspecifiedMatching +MONDO:0030260 skos:exactMatch OMIM:619303 pontocerebellar hypoplasia, iia 1e semapv:UnspecifiedMatching +MONDO:0030261 skos:exactMatch OMIM:619304 pontocerebellar hypoplasia, iia 1f semapv:UnspecifiedMatching +MONDO:0030263 skos:exactMatch OMIM:619310 leukodystrophy, hypomyelinating, 21 semapv:UnspecifiedMatching +MONDO:0030266 skos:exactMatch OMIM:619313 immunodeficiency 80 with or without congenital cardiomyopathy semapv:UnspecifiedMatching +MONDO:0030268 skos:exactMatch OMIM:619317 developmental and epileptic encephalopathy 6b semapv:UnspecifiedMatching +MONDO:0030270 skos:exactMatch OMIM:619319 lymphatic malformation 9 semapv:UnspecifiedMatching +MONDO:0030281 skos:exactMatch OMIM:619334 arthrogryposis multiplex congenita 6 semapv:UnspecifiedMatching +MONDO:0030293 skos:exactMatch OMIM:619361 angioedema, hereditary, 5 semapv:UnspecifiedMatching +MONDO:0030294 skos:exactMatch OMIM:619362 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 semapv:UnspecifiedMatching +MONDO:0030296 skos:exactMatch OMIM:619365 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 semapv:UnspecifiedMatching +MONDO:0030298 skos:exactMatch OMIM:619367 angioedema, hereditary, 8 semapv:UnspecifiedMatching +MONDO:0030300 skos:exactMatch OMIM:619371 cardiomyopathy, dilated, 2d semapv:UnspecifiedMatching +MONDO:0030302 skos:exactMatch OMIM:619374 immunodeficiency 81 semapv:UnspecifiedMatching +MONDO:0030307 skos:exactMatch OMIM:619380 spermatogenic failure 55 semapv:UnspecifiedMatching +MONDO:0030308 skos:exactMatch OMIM:619381 immunodeficiency 82 with systemic inflammation semapv:UnspecifiedMatching +MONDO:0030309 skos:exactMatch omim.ps:619382 Leber hereditary optic neuropathy, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030311 skos:exactMatch OMIM:619386 combined oxidative phosphorylation deficiency 52 semapv:UnspecifiedMatching +MONDO:0030312 skos:exactMatch OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 semapv:UnspecifiedMatching +MONDO:0030313 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0030314 skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030316 skos:exactMatch OMIM:619401 lymphatic malformation 11 semapv:UnspecifiedMatching +MONDO:0030317 skos:exactMatch OMIM:619402 cardiomyopathy, familial hypertrophic, 28 semapv:UnspecifiedMatching +MONDO:0030318 skos:exactMatch OMIM:619405 spinocerebellar ataxia, autosomal recessive 30 semapv:UnspecifiedMatching +MONDO:0030323 skos:exactMatch OMIM:619422 spinocerebellar ataxia, autosomal recessive 31 semapv:UnspecifiedMatching +MONDO:0030326 skos:exactMatch OMIM:619425 mitochondrial DNA depletion syndrome 16b (neuroophthalmic type) semapv:UnspecifiedMatching +MONDO:0030329 skos:exactMatch OMIM:619431 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 semapv:UnspecifiedMatching +MONDO:0030330 skos:exactMatch OMIM:619433 cardiomyopathy, familial restrictive, 6 semapv:UnspecifiedMatching +MONDO:0030331 skos:exactMatch OMIM:619435 ritscher-schinzel syndrome 4 semapv:UnspecifiedMatching +MONDO:0030332 skos:exactMatch OMIM:619436 ciliary dyskinesia, primary, 46 semapv:UnspecifiedMatching +MONDO:0030333 skos:exactMatch OMIM:619437 immunodeficiency 84 semapv:UnspecifiedMatching +MONDO:0030334 skos:exactMatch OMIM:619441 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 semapv:UnspecifiedMatching +MONDO:0030335 skos:exactMatch OMIM:619445 diarrhea 12, with microvillus atrophy semapv:UnspecifiedMatching +MONDO:0030337 skos:exactMatch OMIM:619451 cutis laxa, autosomal recessive, iia 2e semapv:UnspecifiedMatching +MONDO:0030338 skos:exactMatch OMIM:619452 anencephaly 2 semapv:UnspecifiedMatching +MONDO:0030339 skos:exactMatch OMIM:619453 microcephaly 28, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030341 skos:exactMatch OMIM:619461 myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030346 skos:exactMatch OMIM:619466 ciliary dyskinesia, primary, 47, and lissencephaly semapv:UnspecifiedMatching +MONDO:0030353 skos:exactMatch OMIM:619476 joubert syndrome 38 semapv:UnspecifiedMatching +MONDO:0030354 skos:exactMatch OMIM:619477 facioscapulohumeral muscular dystrophy 3, digenic semapv:UnspecifiedMatching +MONDO:0030355 skos:exactMatch OMIM:619478 facioscapulohumeral muscular dystrophy 4, digenic semapv:UnspecifiedMatching +MONDO:0030356 skos:exactMatch OMIM:619479 short-rib thoracic dysplasia 21 without polydactyly semapv:UnspecifiedMatching +MONDO:0030360 skos:exactMatch OMIM:619484 cholestasis, progressive familial intrahepatic, 6 semapv:UnspecifiedMatching +MONDO:0030361 skos:exactMatch OMIM:619486 aicardi-goutieres syndrome 8 semapv:UnspecifiedMatching +MONDO:0030362 skos:exactMatch OMIM:619487 aicardi-goutieres syndrome 9 semapv:UnspecifiedMatching +MONDO:0030366 skos:exactMatch OMIM:619492 cardiomyopathy, dilated, 2e semapv:UnspecifiedMatching +MONDO:0030374 skos:exactMatch OMIM:619407 whim syndrome 2 semapv:UnspecifiedMatching +MONDO:0030375 skos:exactMatch OMIM:619418 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 semapv:UnspecifiedMatching +MONDO:0030376 skos:exactMatch OMIM:619420 martsolf syndrome 2 semapv:UnspecifiedMatching +MONDO:0030378 skos:exactMatch OMIM:619423 combined oxidative phosphorylation deficiency 53 semapv:UnspecifiedMatching +MONDO:0030397 skos:exactMatch OMIM:619463 portal hypertension, noncirrhotic, 2 semapv:UnspecifiedMatching +MONDO:0030399 skos:exactMatch OMIM:619465 visceral neuropathy, familial, 2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030423 skos:exactMatch OMIM:619493 congenital disorder of glycosylation, iia 2v semapv:UnspecifiedMatching +MONDO:0030428 skos:exactMatch OMIM:619510 immunodeficiency 85 and autoimmunity semapv:UnspecifiedMatching +MONDO:0030430 skos:exactMatch OMIM:619515 spermatogenic failure 56 semapv:UnspecifiedMatching +MONDO:0030433 skos:exactMatch OMIM:619519 charcot-marie-tooth disease, axonal, iia 2ff semapv:UnspecifiedMatching +MONDO:0030434 skos:exactMatch OMIM:619521 epilepsy, idiopathic generalized, susceptibility to, 18 semapv:UnspecifiedMatching +MONDO:0030436 skos:exactMatch OMIM:619523 anemia, sideroblastic, 5 semapv:UnspecifiedMatching +MONDO:0030437 skos:exactMatch OMIM:619525 congenital disorder of glycosylation, iia iiw semapv:UnspecifiedMatching +MONDO:0030438 skos:exactMatch OMIM:619527 pontocerebellar hypoplasia, iia 16 semapv:UnspecifiedMatching +MONDO:0030439 skos:exactMatch OMIM:619528 spermatogenic failure 57 semapv:UnspecifiedMatching +MONDO:0030440 skos:exactMatch OMIM:619531 cone-rod dystrophy 22 semapv:UnspecifiedMatching +MONDO:0030448 skos:exactMatch OMIM:619549 immunodeficiency 86 semapv:UnspecifiedMatching +MONDO:0030449 skos:exactMatch OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia semapv:UnspecifiedMatching +MONDO:0030453 skos:exactMatch OMIM:619561 developmental and epileptic encephalopathy 97 semapv:UnspecifiedMatching +MONDO:0030454 skos:exactMatch OMIM:619562 joubert syndrome 39 semapv:UnspecifiedMatching +MONDO:0030455 skos:exactMatch OMIM:619565 dystonia 31 semapv:UnspecifiedMatching +MONDO:0030456 skos:exactMatch OMIM:619566 muscular dystrophy, limb-girdle, autosomal recessive 27 semapv:UnspecifiedMatching +MONDO:0030457 skos:exactMatch OMIM:619573 immunodeficiency 87 and autoimmunity semapv:UnspecifiedMatching +MONDO:0030458 skos:exactMatch OMIM:619574 charcot-marie-tooth disease, axonal, iia 2hh semapv:UnspecifiedMatching +MONDO:0030462 skos:exactMatch OMIM:619582 joubert syndrome 40 semapv:UnspecifiedMatching +MONDO:0030463 skos:exactMatch OMIM:619585 spermatogenic failure 58 semapv:UnspecifiedMatching +MONDO:0030465 skos:exactMatch OMIM:619593 cataract 49 semapv:UnspecifiedMatching +MONDO:0030471 skos:exactMatch OMIM:619603 galloway-mowat syndrome 9 semapv:UnspecifiedMatching +MONDO:0030472 skos:exactMatch OMIM:619605 developmental and epileptic encephalopathy 98 semapv:UnspecifiedMatching +MONDO:0030473 skos:exactMatch OMIM:619606 developmental and epileptic encephalopathy 99 semapv:UnspecifiedMatching +MONDO:0030474 skos:exactMatch OMIM:619607 heterotaxy, visceral, 10, autosomal, with male infertility semapv:UnspecifiedMatching +MONDO:0030475 skos:exactMatch OMIM:619608 heterotaxy, visceral, 11, autosomal, with male infertility semapv:UnspecifiedMatching +MONDO:0030476 skos:exactMatch OMIM:619609 galloway-mowat syndrome 10 semapv:UnspecifiedMatching +MONDO:0030480 skos:exactMatch OMIM:619615 deafness, autosomal recessive 119 semapv:UnspecifiedMatching +MONDO:0030482 skos:exactMatch OMIM:619621 spastic paraplegia 84, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030483 skos:exactMatch OMIM:619630 immunodeficiency 88 semapv:UnspecifiedMatching +MONDO:0030484 skos:exactMatch OMIM:619632 immunodeficiency 89 and autoimmunity semapv:UnspecifiedMatching +MONDO:0030486 skos:exactMatch OMIM:619637 dystonia 32 semapv:UnspecifiedMatching +MONDO:0030487 skos:exactMatch OMIM:619638 spondylometaphyseal dysplasia, pagnamenta iia semapv:UnspecifiedMatching +MONDO:0030489 skos:exactMatch OMIM:619555 epidermolysis bullosa simplex 2a, generalized severe semapv:UnspecifiedMatching +MONDO:0030490 skos:exactMatch OMIM:619643 oocyte/zygote/embryo maturation arrest 11 semapv:UnspecifiedMatching +MONDO:0030491 skos:exactMatch OMIM:619644 immunodeficiency 91 and hyperinflammation semapv:UnspecifiedMatching +MONDO:0030492 skos:exactMatch OMIM:619645 spermatogenic failure 59 semapv:UnspecifiedMatching +MONDO:0030493 skos:exactMatch OMIM:619646 spermatogenic failure 60 semapv:UnspecifiedMatching +MONDO:0030498 skos:exactMatch OMIM:619652 immunodeficiency 92 semapv:UnspecifiedMatching +MONDO:0030500 skos:exactMatch OMIM:619656 loeys-dietz syndrome 6 semapv:UnspecifiedMatching +MONDO:0030503 skos:exactMatch OMIM:619658 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss semapv:UnspecifiedMatching +MONDO:0030505 skos:exactMatch OMIM:619662 cholestasis, progressive familial intrahepatic, 8 semapv:UnspecifiedMatching +MONDO:0030506 skos:exactMatch OMIM:619665 ovarian dysgenesis 9 semapv:UnspecifiedMatching +MONDO:0030507 skos:exactMatch OMIM:619672 spermatogenic failure 61 semapv:UnspecifiedMatching +MONDO:0030508 skos:exactMatch OMIM:619673 spermatogenic failure 62 semapv:UnspecifiedMatching +MONDO:0030512 skos:exactMatch OMIM:619686 spastic paraplegia 85, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030513 skos:exactMatch OMIM:619687 dystonia 33 semapv:UnspecifiedMatching +MONDO:0030514 skos:exactMatch OMIM:619688 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0030515 skos:exactMatch OMIM:619689 spermatogenic failure 63 semapv:UnspecifiedMatching +MONDO:0030517 skos:exactMatch OMIM:619691 trichothiodystrophy 8, nonphotosensitive semapv:UnspecifiedMatching +MONDO:0030518 skos:exactMatch OMIM:619692 trichothiodystrophy 9, nonphotosensitive semapv:UnspecifiedMatching +MONDO:0030519 skos:exactMatch OMIM:619693 agammaglobulinemia 9, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030522 skos:exactMatch OMIM:619696 spermatogenic failure 64 semapv:UnspecifiedMatching +MONDO:0030523 skos:exactMatch OMIM:619697 oocyte/zygote/embryo maturation arrest 12 semapv:UnspecifiedMatching +MONDO:0030524 skos:exactMatch OMIM:619698 mucopolysaccharidosis, iia 10 semapv:UnspecifiedMatching +MONDO:0030525 skos:exactMatch OMIM:619588 epidermolysis bullosa simplex 2b, generalized intermediate semapv:UnspecifiedMatching +MONDO:0030527 skos:exactMatch OMIM:619594 epidermolysis bullosa simplex 2c, localized semapv:UnspecifiedMatching +MONDO:0030528 skos:exactMatch OMIM:619705 immunodeficiency 93 and hypertrophic cardiomyopathy semapv:UnspecifiedMatching +MONDO:0030529 skos:exactMatch OMIM:619707 agammaglobulinemia 10, autosomal dominant semapv:UnspecifiedMatching +MONDO:0030531 skos:exactMatch OMIM:619712 spermatogenic failure 65 semapv:UnspecifiedMatching +MONDO:0030533 skos:exactMatch OMIM:619717 intellectual developmental disorder, autosomal recessive 73 semapv:UnspecifiedMatching +MONDO:0030534 skos:exactMatch OMIM:619718 hypogonadotropic hypogonadism 26 with or without anosmia semapv:UnspecifiedMatching +MONDO:0030535 skos:exactMatch OMIM:619599 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030537 skos:exactMatch OMIM:619482 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction semapv:UnspecifiedMatching +MONDO:0030538 skos:exactMatch OMIM:619724 dystonia 34, myoclonic semapv:UnspecifiedMatching +MONDO:0030539 skos:exactMatch OMIM:619483 central hypoventilation syndrome, congenital, 3 semapv:UnspecifiedMatching +MONDO:0030543 skos:exactMatch OMIM:619737 combined oxidative phosphorylation deficiency 54 semapv:UnspecifiedMatching +MONDO:0030549 skos:exactMatch OMIM:619500 deafness, autosomal dominant 81 semapv:UnspecifiedMatching +MONDO:0030553 skos:exactMatch OMIM:619636 acromesomelic dysplasia 4 semapv:UnspecifiedMatching +MONDO:0030606 skos:exactMatch OMIM:619720 bryant-li-bhoj neurodevelopmental syndrome 1 semapv:UnspecifiedMatching +MONDO:0030607 skos:exactMatch OMIM:619721 bryant-li-bhoj neurodevelopmental syndrome 2 semapv:UnspecifiedMatching +MONDO:0030608 skos:exactMatch OMIM:619611 interstitial lung disease 1 semapv:UnspecifiedMatching +MONDO:0030619 skos:exactMatch OMIM:619614 retinitis pigmentosa 92 semapv:UnspecifiedMatching +MONDO:0030625 skos:exactMatch OMIM:619647 dyskinesia with orofacial involvement, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030634 skos:exactMatch OMIM:619661 leukoencephalopathy, hereditary diffuse, with spheroids 2 semapv:UnspecifiedMatching +MONDO:0030639 skos:exactMatch omim.ps:145420 Teebi hypertelorism syndrome semapv:UnspecifiedMatching +MONDO:0030669 skos:exactMatch OMIM:619708 gastrointestinal defects and immunodeficiency syndrome 2 semapv:UnspecifiedMatching +MONDO:0030673 skos:exactMatch OMIM:619735 spastic paraplegia 86, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030674 skos:exactMatch OMIM:619736 teebi hypertelorism syndrome 2 semapv:UnspecifiedMatching +MONDO:0030676 skos:exactMatch OMIM:619738 parkinsonism-dystonia 3, childhood-onset semapv:UnspecifiedMatching +MONDO:0030677 skos:exactMatch OMIM:619742 charcot-marie-tooth disease, demyelinating, iia 1i semapv:UnspecifiedMatching +MONDO:0030679 skos:exactMatch OMIM:619745 noonan syndrome 14 semapv:UnspecifiedMatching +MONDO:0030680 skos:exactMatch OMIM:619747 cardiomyopathy, dilated, 2f semapv:UnspecifiedMatching +MONDO:0030681 skos:exactMatch OMIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0030684 skos:exactMatch OMIM:619755 hypogonadotropic hypogonadism 27 without anosmia semapv:UnspecifiedMatching +MONDO:0030689 skos:exactMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:UnspecifiedMatching +MONDO:0030690 skos:exactMatch OMIM:619767 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 semapv:UnspecifiedMatching +MONDO:0030692 skos:exactMatch OMIM:619773 immunodeficiency 95 semapv:UnspecifiedMatching +MONDO:0030693 skos:exactMatch OMIM:619774 immunodeficiency 96 semapv:UnspecifiedMatching +MONDO:0030695 skos:exactMatch OMIM:619777 developmental and epileptic encephalopathy 100 semapv:UnspecifiedMatching +MONDO:0030696 skos:exactMatch OMIM:619780 mitochondrial DNA depletion syndrome 20 (mngie type) semapv:UnspecifiedMatching +MONDO:0030697 skos:exactMatch OMIM:619781 myopia 28, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030711 skos:exactMatch OMIM:619789 anemia, congenital dyserythropoietic, iia iiib, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030712 skos:exactMatch OMIM:619790 oculopharyngodistal myopathy 4 semapv:UnspecifiedMatching +MONDO:0030714 skos:exactMatch OMIM:619795 osteogenesis imperfecta, iia 22 semapv:UnspecifiedMatching +MONDO:0030716 skos:exactMatch OMIM:619799 spermatogenic failure 66 semapv:UnspecifiedMatching +MONDO:0030717 skos:exactMatch OMIM:619802 immunodeficiency 97 with autoinflammation semapv:UnspecifiedMatching +MONDO:0030718 skos:exactMatch OMIM:619803 spermatogenic failure 67 semapv:UnspecifiedMatching +MONDO:0030719 skos:exactMatch OMIM:619804 deafness, autosomal dominant 82 semapv:UnspecifiedMatching +MONDO:0030721 skos:exactMatch OMIM:619805 spermatogenic failure 68 semapv:UnspecifiedMatching +MONDO:0030723 skos:exactMatch OMIM:619808 deafness, autosomal dominant 83 semapv:UnspecifiedMatching +MONDO:0030724 skos:exactMatch OMIM:619810 deafness, autosomal dominant 84 semapv:UnspecifiedMatching +MONDO:0030726 skos:exactMatch OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant semapv:UnspecifiedMatching +MONDO:0030727 skos:exactMatch OMIM:619814 developmental and epileptic encephalopathy 101 semapv:UnspecifiedMatching +MONDO:0030729 skos:exactMatch OMIM:619758 tessadori-bicknell-van haaften neurodevelopmental syndrome 1 semapv:UnspecifiedMatching +MONDO:0030730 skos:exactMatch OMIM:619759 tessadori-bicknell-van haaften neurodevelopmental syndrome 2 semapv:UnspecifiedMatching +MONDO:0030731 skos:exactMatch OMIM:619825 aortic aneurysm, familial thoracic 12 semapv:UnspecifiedMatching +MONDO:0030732 skos:exactMatch OMIM:619826 spermatogenic failure 69 semapv:UnspecifiedMatching +MONDO:0030733 skos:exactMatch OMIM:619828 spermatogenic failure 70 semapv:UnspecifiedMatching +MONDO:0030736 skos:exactMatch OMIM:619834 ovarian dysgenesis 10 semapv:UnspecifiedMatching +MONDO:0030746 skos:exactMatch OMIM:619783 epidermolysis bullosa, junctional 2a, intermediate semapv:UnspecifiedMatching +MONDO:0030747 skos:exactMatch OMIM:619784 epidermolysis bullosa, junctional 2b, severe semapv:UnspecifiedMatching +MONDO:0030748 skos:exactMatch OMIM:619785 epidermolysis bullosa, junctional 3a, intermediate semapv:UnspecifiedMatching +MONDO:0030749 skos:exactMatch OMIM:619786 epidermolysis bullosa, junctional 3b, severe semapv:UnspecifiedMatching +MONDO:0030750 skos:exactMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:UnspecifiedMatching +MONDO:0030756 skos:exactMatch OMIM:619751 stuve-wiedemann syndrome 2 semapv:UnspecifiedMatching +MONDO:0030768 skos:exactMatch OMIM:619816 epidermolysis bullosa, junctional 5a, intermediate semapv:UnspecifiedMatching +MONDO:0030770 skos:exactMatch OMIM:619775 congenital disorder of deglycosylation 2 semapv:UnspecifiedMatching +MONDO:0030781 skos:exactMatch OMIM:619793 restrictive dermopathy 2 semapv:UnspecifiedMatching +MONDO:0030785 skos:exactMatch OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly semapv:UnspecifiedMatching +MONDO:0030787 skos:exactMatch OMIM:619831 spermatogenic failure 71 semapv:UnspecifiedMatching +MONDO:0030796 skos:exactMatch omim.ps:221820 Leukoencephalopathy, hereditary diffuse, with spheroids semapv:UnspecifiedMatching +MONDO:0030797 skos:exactMatch OMIM:619845 retinitis pigmentosa 93 semapv:UnspecifiedMatching +MONDO:0030798 skos:exactMatch OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias semapv:UnspecifiedMatching +MONDO:0030800 skos:exactMatch OMIM:619849 cholestasis, progressive familial intrahepatic, 9 semapv:UnspecifiedMatching +MONDO:0030801 skos:exactMatch OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 semapv:UnspecifiedMatching +MONDO:0030805 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:UnspecifiedMatching +MONDO:0030809 skos:exactMatch OMIM:619867 spermatogenic failure 72 semapv:UnspecifiedMatching +MONDO:0030810 skos:exactMatch OMIM:619868 cholestasis, progressive familial intrahepatic, 10 semapv:UnspecifiedMatching +MONDO:0030813 skos:exactMatch OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) semapv:UnspecifiedMatching +MONDO:0030815 skos:exactMatch OMIM:619874 cholestasis, progressive familial intrahepatic, 11 semapv:UnspecifiedMatching +MONDO:0030818 skos:exactMatch OMIM:619878 spermatogenic failure 73 semapv:UnspecifiedMatching +MONDO:0030819 skos:exactMatch OMIM:619879 meckel syndrome 14 semapv:UnspecifiedMatching +MONDO:0030822 skos:exactMatch OMIM:619887 renal hypodysplasia/aplasia 4 semapv:UnspecifiedMatching +MONDO:0030827 skos:exactMatch OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0030831 skos:exactMatch omim.ps:243150 Gastrointestinal defect and immunodeficiency syndrome semapv:UnspecifiedMatching +MONDO:0030835 skos:exactMatch OMIM:619090 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy semapv:UnspecifiedMatching +MONDO:0030837 skos:exactMatch OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities semapv:UnspecifiedMatching +MONDO:0030839 skos:exactMatch OMIM:619855 thyroid hormone metabolism, abnormal, 2 semapv:UnspecifiedMatching +MONDO:0030840 skos:exactMatch OMIM:619096 mismatch repair cancer syndrome 2 semapv:UnspecifiedMatching +MONDO:0030841 skos:exactMatch OMIM:619097 mismatch repair cancer syndrome 3 semapv:UnspecifiedMatching +MONDO:0030843 skos:exactMatch OMIM:619101 mismatch repair cancer syndrome 4 semapv:UnspecifiedMatching +MONDO:0030844 skos:exactMatch OMIM:619102 spermatogenic failure 47 semapv:UnspecifiedMatching +MONDO:0030846 skos:exactMatch OMIM:619108 spermatogenic failure 48 semapv:UnspecifiedMatching +MONDO:0030847 skos:exactMatch OMIM:619110 arthrogryposis, distal, iia 1c semapv:UnspecifiedMatching +MONDO:0030849 skos:exactMatch OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0030852 skos:exactMatch OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0030854 skos:exactMatch OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 semapv:UnspecifiedMatching +MONDO:0030855 skos:exactMatch OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 semapv:UnspecifiedMatching +MONDO:0030856 skos:exactMatch OMIM:619124 developmental and epileptic encephalopathy 89 semapv:UnspecifiedMatching +MONDO:0030858 skos:exactMatch OMIM:619126 immunodeficiency 75 with lymphoproliferation semapv:UnspecifiedMatching +MONDO:0030859 skos:exactMatch OMIM:619111 coach syndrome 2 semapv:UnspecifiedMatching +MONDO:0030860 skos:exactMatch OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 semapv:UnspecifiedMatching +MONDO:0030861 skos:exactMatch OMIM:619131 osteogenesis imperfecta, iia 21 semapv:UnspecifiedMatching +MONDO:0030862 skos:exactMatch OMIM:619113 coach syndrome 3 semapv:UnspecifiedMatching +MONDO:0030864 skos:exactMatch OMIM:619135 ritscher-schinzel syndrome 3 semapv:UnspecifiedMatching +MONDO:0030866 skos:exactMatch OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0030867 skos:exactMatch OMIM:619130 thrombocytopenia 7 semapv:UnspecifiedMatching +MONDO:0030868 skos:exactMatch OMIM:619144 spermatogenic failure 49 semapv:UnspecifiedMatching +MONDO:0030869 skos:exactMatch OMIM:619145 spermatogenic failure 50 semapv:UnspecifiedMatching +MONDO:0030870 skos:exactMatch OMIM:619146 premature ovarian failure 17 semapv:UnspecifiedMatching +MONDO:0030871 skos:exactMatch OMIM:619122 vertebral hypersegmentation and orofacial anomalies semapv:UnspecifiedMatching +MONDO:0030872 skos:exactMatch OMIM:619132 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 semapv:UnspecifiedMatching +MONDO:0030873 skos:exactMatch OMIM:619123 cardiofacioneurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0030875 skos:exactMatch OMIM:619141 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 semapv:UnspecifiedMatching +MONDO:0030876 skos:exactMatch OMIM:619142 cardioacrofacial dysplasia 1 semapv:UnspecifiedMatching +MONDO:0030877 skos:exactMatch OMIM:619143 cardioacrofacial dysplasia 2 semapv:UnspecifiedMatching +MONDO:0030878 skos:exactMatch OMIM:619125 kaya-barakat-masson syndrome semapv:UnspecifiedMatching +MONDO:0030880 skos:exactMatch OMIM:619127 mandibuloacral dysplasia progeroid syndrome semapv:UnspecifiedMatching +MONDO:0030881 skos:exactMatch OMIM:619881 developmental and epileptic encephalopathy 102 semapv:UnspecifiedMatching +MONDO:0030883 skos:exactMatch OMIM:619161 carpal tunnel syndrome 2 semapv:UnspecifiedMatching +MONDO:0030885 skos:exactMatch OMIM:619133 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0030886 skos:exactMatch OMIM:619895 holoprosencephaly 14 semapv:UnspecifiedMatching +MONDO:0030887 skos:exactMatch OMIM:619897 cardiomyopathy, dilated, 2g semapv:UnspecifiedMatching +MONDO:0030890 skos:exactMatch OMIM:619909 pontocerebellar hypoplasia, iia 17 semapv:UnspecifiedMatching +MONDO:0030891 skos:exactMatch OMIM:619910 intellectual developmental disorder, autosomal dominant 66 semapv:UnspecifiedMatching +MONDO:0030893 skos:exactMatch OMIM:619147 leukoencephalopathy, progressive, infantile-onset, with or without deafness semapv:UnspecifiedMatching +MONDO:0030894 skos:exactMatch OMIM:619151 amed syndrome, digenic semapv:UnspecifiedMatching +MONDO:0030895 skos:exactMatch OMIM:619155 nephrotic syndrome, iia 22 semapv:UnspecifiedMatching +MONDO:0030896 skos:exactMatch OMIM:619148 chromosome 13q33-q34 deletion syndrome semapv:UnspecifiedMatching +MONDO:0030897 skos:exactMatch OMIM:619149 lessel-kreienkamp syndrome semapv:UnspecifiedMatching +MONDO:0030898 skos:exactMatch OMIM:619164 immunodeficiency 76 semapv:UnspecifiedMatching +MONDO:0030899 skos:exactMatch OMIM:619165 oculocutaneous albinism, iia 8 semapv:UnspecifiedMatching +MONDO:0030900 skos:exactMatch OMIM:619150 intellectual developmental disorder with paroxysmal dyskinesia or seizures semapv:UnspecifiedMatching +MONDO:0030902 skos:exactMatch OMIM:619170 mitochondrial complex 1 deficiency, nuclear iia 36 semapv:UnspecifiedMatching +MONDO:0030903 skos:exactMatch OMIM:619172 hermansky-pudlak syndrome 11 semapv:UnspecifiedMatching +MONDO:0030905 skos:exactMatch OMIM:619174 deafness, autosomal recessive 117 semapv:UnspecifiedMatching +MONDO:0030907 skos:exactMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:UnspecifiedMatching +MONDO:0030908 skos:exactMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:UnspecifiedMatching +MONDO:0030909 skos:exactMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge iia semapv:UnspecifiedMatching +MONDO:0030910 skos:exactMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:UnspecifiedMatching +MONDO:0030911 skos:exactMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:UnspecifiedMatching +MONDO:0030912 skos:exactMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:UnspecifiedMatching +MONDO:0030913 skos:exactMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:UnspecifiedMatching +MONDO:0030914 skos:exactMatch OMIM:617752 clark-baraitser syndrome semapv:UnspecifiedMatching +MONDO:0030915 skos:exactMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:UnspecifiedMatching +MONDO:0030916 skos:exactMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0030917 skos:exactMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:UnspecifiedMatching +MONDO:0030918 skos:exactMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:UnspecifiedMatching +MONDO:0030919 skos:exactMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:UnspecifiedMatching +MONDO:0030920 skos:exactMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:UnspecifiedMatching +MONDO:0030921 skos:exactMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:UnspecifiedMatching +MONDO:0030922 skos:exactMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:UnspecifiedMatching +MONDO:0030923 skos:exactMatch omim.ps:105500 semapv:UnspecifiedMatching +MONDO:0030924 skos:exactMatch OMIM:619175 proteasome-associated autoinflammatory syndrome 5 semapv:UnspecifiedMatching +MONDO:0030925 skos:exactMatch OMIM:619176 oocyte/zygote/embryo maturation arrest 10 semapv:UnspecifiedMatching +MONDO:0030926 skos:exactMatch OMIM:619177 spermatogenic failure 51 semapv:UnspecifiedMatching +MONDO:0030927 skos:exactMatch OMIM:619178 myofibrillar myopathy 11 semapv:UnspecifiedMatching +MONDO:0030928 skos:exactMatch OMIM:619179 microcephaly 26, primary, autosomal dominant semapv:UnspecifiedMatching +MONDO:0030929 skos:exactMatch OMIM:619180 microcephaly 27, primary, autosomal dominant semapv:UnspecifiedMatching +MONDO:0030930 skos:exactMatch OMIM:619157 neurodevelopmental disorder with or without early-onset generalized epilepsy semapv:UnspecifiedMatching +MONDO:0030931 skos:exactMatch OMIM:619183 proteasome-associated autoinflammatory syndrome 4 semapv:UnspecifiedMatching +MONDO:0030933 skos:exactMatch OMIM:619185 joubert syndrome 37 semapv:UnspecifiedMatching +MONDO:0030934 skos:exactMatch OMIM:619188 intellectual developmental disorder, autosomal dominant 64 semapv:UnspecifiedMatching +MONDO:0030935 skos:exactMatch OMIM:619166 mitochondrial complex 2 deficiency, nuclear iia 2 semapv:UnspecifiedMatching +MONDO:0030936 skos:exactMatch OMIM:619191 epilepsy, progressive myoclonic, 12 semapv:UnspecifiedMatching +MONDO:0030937 skos:exactMatch OMIM:619167 mitochondrial complex 2 deficiency, nuclear iia 3 semapv:UnspecifiedMatching +MONDO:0030938 skos:exactMatch OMIM:619202 spermatogenic failure 52 semapv:UnspecifiedMatching +MONDO:0030939 skos:exactMatch OMIM:619203 premature ovarian failure 18 semapv:UnspecifiedMatching +MONDO:0030941 skos:exactMatch OMIM:619209 erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching +MONDO:0030947 skos:exactMatch OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities semapv:UnspecifiedMatching +MONDO:0030953 skos:exactMatch OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching +MONDO:0030957 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching +MONDO:0030958 skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:UnspecifiedMatching +MONDO:0030961 skos:exactMatch OMIM:619208 olmsted syndrome 2 semapv:UnspecifiedMatching +MONDO:0030962 skos:exactMatch OMIM:619201 nephrotic syndrome, iia 23 semapv:UnspecifiedMatching +MONDO:0030963 skos:exactMatch OMIM:619189 li-campeau syndrome semapv:UnspecifiedMatching +MONDO:0030964 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:UnspecifiedMatching +MONDO:0030966 skos:exactMatch OMIM:619194 neurofacioskeletal syndrome with or without renal agenesis semapv:UnspecifiedMatching +MONDO:0030967 skos:exactMatch OMIM:619196 deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0030968 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:UnspecifiedMatching +MONDO:0030969 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:UnspecifiedMatching +MONDO:0030970 skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:UnspecifiedMatching +MONDO:0030971 skos:exactMatch OMIM:619220 immunodeficiency 78 with autoimmunity and developmental delay semapv:UnspecifiedMatching +MONDO:0030972 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:UnspecifiedMatching +MONDO:0030973 skos:exactMatch OMIM:619223 immunodeficiency 77 semapv:UnspecifiedMatching +MONDO:0030974 skos:exactMatch OMIM:619224 mitochondrial complex 2 deficiency, nuclear iia 4 semapv:UnspecifiedMatching +MONDO:0030975 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:UnspecifiedMatching +MONDO:0030976 skos:exactMatch OMIM:619215 oculomotor-abducens synkinesis semapv:UnspecifiedMatching +MONDO:0030977 skos:exactMatch OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7 semapv:UnspecifiedMatching +MONDO:0030978 skos:exactMatch OMIM:619217 endove syndrome, limb-only iia semapv:UnspecifiedMatching +MONDO:0030979 skos:exactMatch OMIM:619218 endove syndrome, limb-brain iia semapv:UnspecifiedMatching +MONDO:0030981 skos:exactMatch OMIM:619238 immunodeficiency 79 semapv:UnspecifiedMatching +MONDO:0030982 skos:exactMatch OMIM:619221 sulfide:quinone oxidoreductase deficiency semapv:UnspecifiedMatching +MONDO:0030983 skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:UnspecifiedMatching +MONDO:0030984 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:UnspecifiedMatching +MONDO:0030985 skos:exactMatch OMIM:619245 premature ovarian failure 19 semapv:UnspecifiedMatching +MONDO:0030986 skos:exactMatch OMIM:619226 blistering, acantholytic, of oral and laryngeal mucosa semapv:UnspecifiedMatching +MONDO:0030987 skos:exactMatch OMIM:619227 vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:UnspecifiedMatching +MONDO:0030988 skos:exactMatch OMIM:619228 developmental delay with dysmorphic facies and dental anomalies semapv:UnspecifiedMatching +MONDO:0030989 skos:exactMatch OMIM:619258 spermatogenic failure 53 semapv:UnspecifiedMatching +MONDO:0030990 skos:exactMatch OMIM:619229 den hoed-de boer-voisin syndrome semapv:UnspecifiedMatching +MONDO:0030991 skos:exactMatch OMIM:619232 bile acid conjugation defect 1 semapv:UnspecifiedMatching +MONDO:0030992 skos:exactMatch OMIM:619234 short stature, oligodontia, dysmorphic facies, and motor delay semapv:UnspecifiedMatching +MONDO:0030993 skos:exactMatch OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:UnspecifiedMatching +MONDO:0030994 skos:exactMatch OMIM:619239 neurodevelopmental disorder with or without autism or seizures semapv:UnspecifiedMatching +MONDO:0030995 skos:exactMatch OMIM:619243 global developmental delay with speech and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0030996 skos:exactMatch OMIM:619271 bleeding disorder, platelet-type, 24 semapv:UnspecifiedMatching +MONDO:0030997 skos:exactMatch OMIM:619272 mitochondrial complex 1 deficiency, nuclear iia 37 semapv:UnspecifiedMatching +MONDO:0030998 skos:exactMatch OMIM:619274 deafness, autosomal dominant 80 semapv:UnspecifiedMatching +MONDO:0030999 skos:exactMatch OMIM:619244 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism semapv:UnspecifiedMatching +MONDO:0031000 skos:exactMatch OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:UnspecifiedMatching +MONDO:0031001 skos:exactMatch OMIM:619248 vitreoretinopathy with phalangeal epiphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0031002 skos:exactMatch OMIM:619255 baralle-macken syndrome semapv:UnspecifiedMatching +MONDO:0031003 skos:exactMatch OMIM:619256 hypercholanemia, familial, 2 semapv:UnspecifiedMatching +MONDO:0031006 skos:exactMatch OMIM:619259 neurodegeneration with ataxia and late-onset optic atrophy semapv:UnspecifiedMatching +MONDO:0031007 skos:exactMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:UnspecifiedMatching +MONDO:0031008 skos:exactMatch OMIM:619263 nephrotic syndrome, iia 24 semapv:UnspecifiedMatching +MONDO:0031009 skos:exactMatch OMIM:619267 glanzmann thrombasthenia 2 semapv:UnspecifiedMatching +MONDO:0031010 skos:exactMatch OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes semapv:UnspecifiedMatching +MONDO:0031011 skos:exactMatch OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:UnspecifiedMatching +MONDO:0031019 skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:UnspecifiedMatching +MONDO:0031021 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching +MONDO:0031028 skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching +MONDO:0031030 skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching +MONDO:0031031 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching +MONDO:0031037 skos:exactMatch omim.ps:116860 Cerebral cavernous malformations semapv:UnspecifiedMatching +MONDO:0031040 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching +MONDO:0031043 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:UnspecifiedMatching +MONDO:0031044 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching +MONDO:0031045 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:UnspecifiedMatching +MONDO:0031047 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:UnspecifiedMatching +MONDO:0031052 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching +MONDO:0031054 skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:UnspecifiedMatching +MONDO:0031055 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching +MONDO:0031057 skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:UnspecifiedMatching +MONDO:0031060 skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0031061 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:UnspecifiedMatching +MONDO:0031062 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:UnspecifiedMatching +MONDO:0031068 skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:UnspecifiedMatching +MONDO:0031071 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:UnspecifiedMatching +MONDO:0031077 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:UnspecifiedMatching +MONDO:0031083 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:UnspecifiedMatching +MONDO:0031084 skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:UnspecifiedMatching +MONDO:0031115 skos:exactMatch omim.ps:606703 Dyskinesia with orofacial involvement semapv:UnspecifiedMatching +MONDO:0031166 skos:exactMatch omim.ps:136550 Macular dystrophy, retinal semapv:UnspecifiedMatching +MONDO:0031169 skos:exactMatch omim.ps:184260 Odontochondrodysplasia semapv:UnspecifiedMatching +MONDO:0031199 skos:exactMatch omim.ps:619611 Interstitial lung disease semapv:UnspecifiedMatching +MONDO:0031200 skos:exactMatch omim.ps:619720 Bryant-Li-Bhoj neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0031213 skos:exactMatch omim.ps:275210 Restrictive dermopathy semapv:UnspecifiedMatching +MONDO:0031219 skos:exactMatch omim.ps:276300 Mismatch repair cancer syndrome semapv:UnspecifiedMatching +MONDO:0031230 skos:exactMatch omim.ps:252011 Mitochondrial complex II deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0031240 skos:exactMatch omim.ps:167870 Panic disorder semapv:UnspecifiedMatching +MONDO:0031280 skos:exactMatch omim.ps:601559 Stuve-Wiedemann syndrome semapv:UnspecifiedMatching +MONDO:0031323 skos:exactMatch omim.ps:212093 Cardiac Valvular Defect semapv:UnspecifiedMatching +MONDO:0031329 skos:exactMatch omim.ps:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching +MONDO:0031332 skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:UnspecifiedMatching +MONDO:0031376 skos:exactMatch omim.ps:615273 Congenital disorder of deglycosylation semapv:UnspecifiedMatching +MONDO:0031384 skos:exactMatch omim.ps:616744 Autoinflammatory syndrome, familial, Behcet-like semapv:UnspecifiedMatching +MONDO:0031386 skos:exactMatch omim.ps:619142 Cardioacrofacial dysplasia semapv:UnspecifiedMatching +MONDO:0031400 skos:exactMatch omim.ps:619758 Tessadori-Van-Haaften neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0031415 skos:exactMatch omim.ps:254940 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching +MONDO:0031421 skos:exactMatch omim.ps:614594 Olmsted syndrome semapv:UnspecifiedMatching +MONDO:0031422 skos:exactMatch omim.ps:256550 Mucolipidosis semapv:UnspecifiedMatching +MONDO:0031432 skos:exactMatch omim.ps:609698 Thyroid hormone metabolism, abnormal semapv:UnspecifiedMatching +MONDO:0031439 skos:exactMatch omim.ps:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:UnspecifiedMatching +MONDO:0031446 skos:exactMatch OMIM:607748 hypercholanemia, familial 1 semapv:UnspecifiedMatching +MONDO:0031447 skos:exactMatch omim.ps:613112 Macrothrombocytopenia, isolated semapv:UnspecifiedMatching +MONDO:0031481 skos:exactMatch OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching +MONDO:0031520 skos:exactMatch omim.ps:601457 Severe combined immunodeficiency (select examples) semapv:UnspecifiedMatching +MONDO:0031615 skos:exactMatch omim.ps:614592 Bent bone dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0031632 skos:exactMatch omim.ps:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair semapv:UnspecifiedMatching +MONDO:0031646 skos:exactMatch omim.ps:619980 Braddock-Carey Syndrome semapv:UnspecifiedMatching +MONDO:0032485 skos:exactMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:UnspecifiedMatching +MONDO:0032526 skos:exactMatch OMIM:618093 spinocerebellar ataxia 48 semapv:UnspecifiedMatching +MONDO:0032564 skos:exactMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:UnspecifiedMatching +MONDO:0032565 skos:exactMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:UnspecifiedMatching +MONDO:0032566 skos:exactMatch OMIM:618156 squalene synthase deficiency semapv:UnspecifiedMatching +MONDO:0032567 skos:exactMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:UnspecifiedMatching +MONDO:0032568 skos:exactMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:UnspecifiedMatching +MONDO:0032569 skos:exactMatch OMIM:618160 pituitary hormone deficiency, combined or isolated, 7 semapv:UnspecifiedMatching +MONDO:0032570 skos:exactMatch OMIM:618161 joubert syndrome 35 semapv:UnspecifiedMatching +MONDO:0032571 skos:exactMatch OMIM:618162 spondyloepimetaphyseal dysplasia, krakow iia semapv:UnspecifiedMatching +MONDO:0032572 skos:exactMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:UnspecifiedMatching +MONDO:0032573 skos:exactMatch OMIM:618165 bone marrow failure syndrome 5 semapv:UnspecifiedMatching +MONDO:0032574 skos:exactMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:UnspecifiedMatching +MONDO:0032575 skos:exactMatch OMIM:618168 diarrhea 9 semapv:UnspecifiedMatching +MONDO:0032577 skos:exactMatch OMIM:618173 retinitis pigmentosa 83 semapv:UnspecifiedMatching +MONDO:0032578 skos:exactMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:UnspecifiedMatching +MONDO:0032579 skos:exactMatch OMIM:618175 warburg-cinotti syndrome semapv:UnspecifiedMatching +MONDO:0032580 skos:exactMatch OMIM:618176 nephrotic syndrome, iia 17 semapv:UnspecifiedMatching +MONDO:0032581 skos:exactMatch OMIM:618177 nephrotic syndrome, iia 18 semapv:UnspecifiedMatching +MONDO:0032582 skos:exactMatch OMIM:618178 nephrotic syndrome, iia 19 semapv:UnspecifiedMatching +MONDO:0032583 skos:exactMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032584 skos:exactMatch OMIM:618180 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis semapv:UnspecifiedMatching +MONDO:0032586 skos:exactMatch OMIM:618183 diarrhea 10, protein-losing enteropathy iia semapv:UnspecifiedMatching +MONDO:0032588 skos:exactMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:UnspecifiedMatching +MONDO:0032590 skos:exactMatch OMIM:618187 ovarian dysgenesis 8 semapv:UnspecifiedMatching +MONDO:0032591 skos:exactMatch OMIM:618188 hyperparathyroidism, transient neonatal semapv:UnspecifiedMatching +MONDO:0032592 skos:exactMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:UnspecifiedMatching +MONDO:0032594 skos:exactMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0032596 skos:exactMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:UnspecifiedMatching +MONDO:0032597 skos:exactMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:UnspecifiedMatching +MONDO:0032598 skos:exactMatch OMIM:618201 developmental and epileptic encephalopathy 68 semapv:UnspecifiedMatching +MONDO:0032599 skos:exactMatch OMIM:618204 immunodeficiency 15a semapv:UnspecifiedMatching +MONDO:0032600 skos:exactMatch OMIM:618205 snijders blok-campeau syndrome semapv:UnspecifiedMatching +MONDO:0032601 skos:exactMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:UnspecifiedMatching +MONDO:0032603 skos:exactMatch OMIM:618219 polydactyly, postaxial, iia a9 semapv:UnspecifiedMatching +MONDO:0032604 skos:exactMatch OMIM:618220 retinitis pigmentosa 84 semapv:UnspecifiedMatching +MONDO:0032605 skos:exactMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:UnspecifiedMatching +MONDO:0032606 skos:exactMatch OMIM:618222 mitochondrial complex 1 deficiency, nuclear iia 2 semapv:UnspecifiedMatching +MONDO:0032607 skos:exactMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:UnspecifiedMatching +MONDO:0032608 skos:exactMatch OMIM:618224 mitochondrial complex 1 deficiency, nuclear iia 3 semapv:UnspecifiedMatching +MONDO:0032609 skos:exactMatch OMIM:618225 mitochondrial complex 1 deficiency, nuclear iia 4 semapv:UnspecifiedMatching +MONDO:0032610 skos:exactMatch OMIM:618226 mitochondrial complex 1 deficiency, nuclear iia 5 semapv:UnspecifiedMatching +MONDO:0032611 skos:exactMatch OMIM:618228 mitochondrial complex 1 deficiency, nuclear iia 6 semapv:UnspecifiedMatching +MONDO:0032612 skos:exactMatch OMIM:618229 mitochondrial complex 1 deficiency, nuclear iia 7 semapv:UnspecifiedMatching +MONDO:0032613 skos:exactMatch OMIM:618230 mitochondrial complex 1 deficiency, nuclear iia 8 semapv:UnspecifiedMatching +MONDO:0032614 skos:exactMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0032615 skos:exactMatch OMIM:618232 mitochondrial complex 1 deficiency, nuclear iia 9 semapv:UnspecifiedMatching +MONDO:0032616 skos:exactMatch OMIM:618233 mitochondrial complex 1 deficiency, nuclear iia 10 semapv:UnspecifiedMatching +MONDO:0032617 skos:exactMatch OMIM:618234 mitochondrial complex 1 deficiency, nuclear iia 11 semapv:UnspecifiedMatching +MONDO:0032618 skos:exactMatch OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 semapv:UnspecifiedMatching +MONDO:0032619 skos:exactMatch OMIM:618236 mitochondrial complex 1 deficiency, nuclear iia 14 semapv:UnspecifiedMatching +MONDO:0032620 skos:exactMatch OMIM:618237 mitochondrial complex 1 deficiency, nuclear iia 15 semapv:UnspecifiedMatching +MONDO:0032621 skos:exactMatch OMIM:618238 mitochondrial complex 1 deficiency, nuclear iia 16 semapv:UnspecifiedMatching +MONDO:0032622 skos:exactMatch OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 semapv:UnspecifiedMatching +MONDO:0032623 skos:exactMatch OMIM:618240 mitochondrial complex 1 deficiency, nuclear iia 18 semapv:UnspecifiedMatching +MONDO:0032624 skos:exactMatch OMIM:618241 mitochondrial complex 1 deficiency, nuclear iia 19 semapv:UnspecifiedMatching +MONDO:0032625 skos:exactMatch OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 semapv:UnspecifiedMatching +MONDO:0032626 skos:exactMatch OMIM:618243 mitochondrial complex 1 deficiency, nuclear iia 22 semapv:UnspecifiedMatching +MONDO:0032627 skos:exactMatch OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 semapv:UnspecifiedMatching +MONDO:0032628 skos:exactMatch OMIM:618245 mitochondrial complex 1 deficiency, nuclear iia 24 semapv:UnspecifiedMatching +MONDO:0032629 skos:exactMatch OMIM:618246 mitochondrial complex 1 deficiency, nuclear iia 25 semapv:UnspecifiedMatching +MONDO:0032630 skos:exactMatch OMIM:618247 mitochondrial complex 1 deficiency, nuclear iia 26 semapv:UnspecifiedMatching +MONDO:0032631 skos:exactMatch OMIM:618248 mitochondrial complex 1 deficiency, nuclear iia 27 semapv:UnspecifiedMatching +MONDO:0032632 skos:exactMatch OMIM:618249 mitochondrial complex 1 deficiency, nuclear iia 28 semapv:UnspecifiedMatching +MONDO:0032633 skos:exactMatch OMIM:618250 mitochondrial complex 1 deficiency, nuclear iia 29 semapv:UnspecifiedMatching +MONDO:0032634 skos:exactMatch OMIM:618251 mitochondrial complex 1 deficiency, nuclear iia 31 semapv:UnspecifiedMatching +MONDO:0032635 skos:exactMatch OMIM:618252 mitochondrial complex 1 deficiency, nuclear iia 32 semapv:UnspecifiedMatching +MONDO:0032636 skos:exactMatch OMIM:618253 mitochondrial complex 1 deficiency, nuclear iia 33 semapv:UnspecifiedMatching +MONDO:0032637 skos:exactMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:UnspecifiedMatching +MONDO:0032639 skos:exactMatch OMIM:618257 deafness, autosomal recessive 112 semapv:UnspecifiedMatching +MONDO:0032641 skos:exactMatch OMIM:618264 mirror movements 4 semapv:UnspecifiedMatching +MONDO:0032642 skos:exactMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0032643 skos:exactMatch OMIM:618266 pontocerebellar hypoplasia, iia 12 semapv:UnspecifiedMatching +MONDO:0032644 skos:exactMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:UnspecifiedMatching +MONDO:0032645 skos:exactMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0032646 skos:exactMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:UnspecifiedMatching +MONDO:0032648 skos:exactMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:UnspecifiedMatching +MONDO:0032649 skos:exactMatch OMIM:618275 hypotrichosis 14 semapv:UnspecifiedMatching +MONDO:0032650 skos:exactMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:UnspecifiedMatching +MONDO:0032651 skos:exactMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:UnspecifiedMatching +MONDO:0032653 skos:exactMatch OMIM:618280 cardiac-urogenital syndrome semapv:UnspecifiedMatching +MONDO:0032654 skos:exactMatch OMIM:618282 hyper-ige syndrome 3, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching +MONDO:0032655 skos:exactMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:UnspecifiedMatching +MONDO:0032656 skos:exactMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:UnspecifiedMatching +MONDO:0032657 skos:exactMatch OMIM:618285 developmental and epileptic encephalopathy 69 semapv:UnspecifiedMatching +MONDO:0032658 skos:exactMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:UnspecifiedMatching +MONDO:0032659 skos:exactMatch OMIM:618287 autoinflammatory disease, familial, behcet-like 3 semapv:UnspecifiedMatching +MONDO:0032660 skos:exactMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032661 skos:exactMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:UnspecifiedMatching +MONDO:0032662 skos:exactMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:UnspecifiedMatching +MONDO:0032663 skos:exactMatch OMIM:618298 developmental and epileptic encephalopathy 70 semapv:UnspecifiedMatching +MONDO:0032664 skos:exactMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:UnspecifiedMatching +MONDO:0032665 skos:exactMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:UnspecifiedMatching +MONDO:0032666 skos:exactMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:UnspecifiedMatching +MONDO:0032667 skos:exactMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0032668 skos:exactMatch OMIM:618310 diamond-blackfan anemia 18 semapv:UnspecifiedMatching +MONDO:0032669 skos:exactMatch OMIM:618312 diamond-blackfan anemia 19 semapv:UnspecifiedMatching +MONDO:0032670 skos:exactMatch OMIM:618313 diamond-blackfan anemia 20 semapv:UnspecifiedMatching +MONDO:0032672 skos:exactMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0032673 skos:exactMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032675 skos:exactMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:UnspecifiedMatching +MONDO:0032677 skos:exactMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:UnspecifiedMatching +MONDO:0032678 skos:exactMatch OMIM:618328 developmental and epileptic encephalopathy 71 semapv:UnspecifiedMatching +MONDO:0032679 skos:exactMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:UnspecifiedMatching +MONDO:0032680 skos:exactMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:UnspecifiedMatching +MONDO:0032681 skos:exactMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:UnspecifiedMatching +MONDO:0032684 skos:exactMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:UnspecifiedMatching +MONDO:0032685 skos:exactMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0032686 skos:exactMatch OMIM:618341 spermatogenic failure 35 semapv:UnspecifiedMatching +MONDO:0032687 skos:exactMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:UnspecifiedMatching +MONDO:0032688 skos:exactMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:UnspecifiedMatching +MONDO:0032689 skos:exactMatch OMIM:618345 retinitis pigmentosa 85 semapv:UnspecifiedMatching +MONDO:0032690 skos:exactMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:UnspecifiedMatching +MONDO:0032691 skos:exactMatch OMIM:618347 galloway-mowat syndrome 6 semapv:UnspecifiedMatching +MONDO:0032692 skos:exactMatch OMIM:618348 galloway-mowat syndrome 7 semapv:UnspecifiedMatching +MONDO:0032693 skos:exactMatch OMIM:618349 galloway-mowat syndrome 8 semapv:UnspecifiedMatching +MONDO:0032694 skos:exactMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032696 skos:exactMatch OMIM:618353 oocyte/zygote/embryo maturation arrest 6 semapv:UnspecifiedMatching +MONDO:0032697 skos:exactMatch OMIM:618354 houge-janssens syndrome 3 semapv:UnspecifiedMatching +MONDO:0032698 skos:exactMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:UnspecifiedMatching +MONDO:0032699 skos:exactMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:UnspecifiedMatching +MONDO:0032702 skos:exactMatch OMIM:618362 coffin-siris syndrome 8 semapv:UnspecifiedMatching +MONDO:0032703 skos:exactMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:UnspecifiedMatching +MONDO:0032705 skos:exactMatch OMIM:618367 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination semapv:UnspecifiedMatching +MONDO:0032706 skos:exactMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:UnspecifiedMatching +MONDO:0032707 skos:exactMatch OMIM:618371 turnpenny-fry syndrome semapv:UnspecifiedMatching +MONDO:0032710 skos:exactMatch OMIM:618374 developmental and epileptic encephalopathy 72 semapv:UnspecifiedMatching +MONDO:0032712 skos:exactMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:UnspecifiedMatching +MONDO:0032714 skos:exactMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:UnspecifiedMatching +MONDO:0032715 skos:exactMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:UnspecifiedMatching +MONDO:0032716 skos:exactMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:UnspecifiedMatching +MONDO:0032717 skos:exactMatch OMIM:618386 amelogenesis imperfecta, iia 3c semapv:UnspecifiedMatching +MONDO:0032721 skos:exactMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu iia semapv:UnspecifiedMatching +MONDO:0032723 skos:exactMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:UnspecifiedMatching +MONDO:0032724 skos:exactMatch OMIM:618395 spondyloepimetaphyseal dysplasia with joint laxity, iia 3 semapv:UnspecifiedMatching +MONDO:0032725 skos:exactMatch OMIM:618396 developmental and epileptic encephalopathy 74 semapv:UnspecifiedMatching +MONDO:0032726 skos:exactMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:UnspecifiedMatching +MONDO:0032728 skos:exactMatch OMIM:618400 charcot-marie-tooth disease, axonal, iia 2ee semapv:UnspecifiedMatching +MONDO:0032729 skos:exactMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:UnspecifiedMatching +MONDO:0032730 skos:exactMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:UnspecifiedMatching +MONDO:0032732 skos:exactMatch OMIM:618410 deafness, autosomal recessive 113 semapv:UnspecifiedMatching +MONDO:0032733 skos:exactMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:UnspecifiedMatching +MONDO:0032735 skos:exactMatch OMIM:618415 cataract 48 semapv:UnspecifiedMatching +MONDO:0032736 skos:exactMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:UnspecifiedMatching +MONDO:0032737 skos:exactMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032738 skos:exactMatch OMIM:618419 myoectodermal gonadal dysgenesis syndrome semapv:UnspecifiedMatching +MONDO:0032739 skos:exactMatch OMIM:618420 spermatogenic failure 36 semapv:UnspecifiedMatching +MONDO:0032740 skos:exactMatch OMIM:618422 deafness, autosomal recessive 100 semapv:UnspecifiedMatching +MONDO:0032741 skos:exactMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:UnspecifiedMatching +MONDO:0032742 skos:exactMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:UnspecifiedMatching +MONDO:0032744 skos:exactMatch OMIM:618429 spermatogenic failure 37 semapv:UnspecifiedMatching +MONDO:0032745 skos:exactMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0032746 skos:exactMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:UnspecifiedMatching +MONDO:0032747 skos:exactMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:UnspecifiedMatching +MONDO:0032748 skos:exactMatch OMIM:618433 spermatogenic failure 38 semapv:UnspecifiedMatching +MONDO:0032749 skos:exactMatch OMIM:618434 deafness, autosomal recessive 94 semapv:UnspecifiedMatching +MONDO:0032750 skos:exactMatch OMIM:618435 arthrogryposis, distal, iia 2b2 semapv:UnspecifiedMatching +MONDO:0032751 skos:exactMatch OMIM:618436 arthrogryposis, distal, iia 2b3 semapv:UnspecifiedMatching +MONDO:0032752 skos:exactMatch OMIM:618437 developmental and epileptic encephalopathy 75 semapv:UnspecifiedMatching +MONDO:0032753 skos:exactMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032755 skos:exactMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:UnspecifiedMatching +MONDO:0032756 skos:exactMatch OMIM:618447 long qt syndrome 8 semapv:UnspecifiedMatching +MONDO:0032757 skos:exactMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:UnspecifiedMatching +MONDO:0032758 skos:exactMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:UnspecifiedMatching +MONDO:0032759 skos:exactMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:UnspecifiedMatching +MONDO:0032760 skos:exactMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:UnspecifiedMatching +MONDO:0032761 skos:exactMatch OMIM:618456 deafness, autosomal recessive 114 semapv:UnspecifiedMatching +MONDO:0032762 skos:exactMatch OMIM:618457 deafness, autosomal recessive 115 semapv:UnspecifiedMatching +MONDO:0032763 skos:exactMatch OMIM:618459 immunodeficiency 62 semapv:UnspecifiedMatching +MONDO:0032764 skos:exactMatch OMIM:618460 khan-khan-katsanis syndrome semapv:UnspecifiedMatching +MONDO:0032765 skos:exactMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:UnspecifiedMatching +MONDO:0032766 skos:exactMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:UnspecifiedMatching +MONDO:0032767 skos:exactMatch OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 semapv:UnspecifiedMatching +MONDO:0032768 skos:exactMatch OMIM:618468 developmental and epileptic encephalopathy 76 semapv:UnspecifiedMatching +MONDO:0032770 skos:exactMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:UnspecifiedMatching +MONDO:0032771 skos:exactMatch OMIM:618475 pheochromocytoma/paraganglioma syndrome 7 semapv:UnspecifiedMatching +MONDO:0032772 skos:exactMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:UnspecifiedMatching +MONDO:0032773 skos:exactMatch OMIM:618477 uridine-cytidineuria semapv:UnspecifiedMatching +MONDO:0032774 skos:exactMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:UnspecifiedMatching +MONDO:0032775 skos:exactMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:UnspecifiedMatching +MONDO:0032776 skos:exactMatch OMIM:618481 deafness, autosomal recessive 99 semapv:UnspecifiedMatching +MONDO:0032777 skos:exactMatch OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 semapv:UnspecifiedMatching +MONDO:0032778 skos:exactMatch OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia semapv:UnspecifiedMatching +MONDO:0032779 skos:exactMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:UnspecifiedMatching +MONDO:0032780 skos:exactMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:UnspecifiedMatching +MONDO:0032781 skos:exactMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:UnspecifiedMatching +MONDO:0032782 skos:exactMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:UnspecifiedMatching +MONDO:0032783 skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:UnspecifiedMatching +MONDO:0032784 skos:exactMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:UnspecifiedMatching +MONDO:0032785 skos:exactMatch OMIM:618498 polydactyly, postaxial, iia a10 semapv:UnspecifiedMatching +MONDO:0032786 skos:exactMatch OMIM:618499 noonan syndrome 11 semapv:UnspecifiedMatching +MONDO:0032787 skos:exactMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:UnspecifiedMatching +MONDO:0032788 skos:exactMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:UnspecifiedMatching +MONDO:0032789 skos:exactMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:UnspecifiedMatching +MONDO:0032790 skos:exactMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0032791 skos:exactMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0032792 skos:exactMatch OMIM:618511 neuropathy, hereditary motor and sensory, iia vic, with optic atrophy semapv:UnspecifiedMatching +MONDO:0032793 skos:exactMatch OMIM:618512 o'donnell-luria-rodan syndrome semapv:UnspecifiedMatching +MONDO:0032794 skos:exactMatch OMIM:618513 leber congenital amaurosis 19 semapv:UnspecifiedMatching +MONDO:0032795 skos:exactMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:UnspecifiedMatching +MONDO:0032796 skos:exactMatch OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching +MONDO:0032797 skos:exactMatch OMIM:618524 congenital myopathy 16 semapv:UnspecifiedMatching +MONDO:0032798 skos:exactMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:UnspecifiedMatching +MONDO:0032799 skos:exactMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:UnspecifiedMatching +MONDO:0032800 skos:exactMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:0032801 skos:exactMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:UnspecifiedMatching +MONDO:0032802 skos:exactMatch OMIM:618533 deafness, autosomal dominant 37 semapv:UnspecifiedMatching +MONDO:0032803 skos:exactMatch OMIM:618534 immunodeficiency 64 with lymphoproliferation semapv:UnspecifiedMatching +MONDO:0032804 skos:exactMatch OMIM:618535 ectodermal dysplasia 15, hypohidrotic/hair iia semapv:UnspecifiedMatching +MONDO:0032805 skos:exactMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:UnspecifiedMatching +MONDO:0032806 skos:exactMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:UnspecifiedMatching +MONDO:0032807 skos:exactMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:UnspecifiedMatching +MONDO:0032808 skos:exactMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:UnspecifiedMatching +MONDO:0032809 skos:exactMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:UnspecifiedMatching +MONDO:0032810 skos:exactMatch OMIM:618550 oocyte/zygote/embryo maturation arrest 7 semapv:UnspecifiedMatching +MONDO:0032811 skos:exactMatch OMIM:618555 night blindness, congenital stationary, type1i semapv:UnspecifiedMatching +MONDO:0032812 skos:exactMatch OMIM:618557 developmental and epileptic encephalopathy 78 semapv:UnspecifiedMatching +MONDO:0032813 skos:exactMatch OMIM:618559 developmental and epileptic encephalopathy 79 semapv:UnspecifiedMatching +MONDO:0032814 skos:exactMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032815 skos:exactMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:UnspecifiedMatching +MONDO:0032816 skos:exactMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:UnspecifiedMatching +MONDO:0032817 skos:exactMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0032818 skos:exactMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:UnspecifiedMatching +MONDO:0032819 skos:exactMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:UnspecifiedMatching +MONDO:0032820 skos:exactMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0032821 skos:exactMatch OMIM:618578 congenital myopathy 19 semapv:UnspecifiedMatching +MONDO:0032822 skos:exactMatch OMIM:618580 developmental and epileptic encephalopathy 80 semapv:UnspecifiedMatching +MONDO:0032823 skos:exactMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:UnspecifiedMatching +MONDO:0032824 skos:exactMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:UnspecifiedMatching +MONDO:0032826 skos:exactMatch OMIM:618594 nephrotic syndrome, iia 21 semapv:UnspecifiedMatching +MONDO:0032827 skos:exactMatch OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 semapv:UnspecifiedMatching +MONDO:0032828 skos:exactMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:UnspecifiedMatching +MONDO:0032829 skos:exactMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0032830 skos:exactMatch OMIM:618604 snijders blok-fisher syndrome semapv:UnspecifiedMatching +MONDO:0032831 skos:exactMatch OMIM:618606 pontocerebellar hypoplasia, iia 13 semapv:UnspecifiedMatching +MONDO:0032832 skos:exactMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:UnspecifiedMatching +MONDO:0032833 skos:exactMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:UnspecifiedMatching +MONDO:0032834 skos:exactMatch OMIM:618613 retinitis pigmentosa 86 semapv:UnspecifiedMatching +MONDO:0032835 skos:exactMatch OMIM:618618 spondyloepiphyseal dysplasia, nishimura iia semapv:UnspecifiedMatching +MONDO:0032836 skos:exactMatch OMIM:618619 weiss-kruszka syndrome semapv:UnspecifiedMatching +MONDO:0032837 skos:exactMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:UnspecifiedMatching +MONDO:0032838 skos:exactMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:UnspecifiedMatching +MONDO:0032839 skos:exactMatch OMIM:618624 noonan syndrome 12 semapv:UnspecifiedMatching +MONDO:0032841 skos:exactMatch OMIM:618632 usher syndrome, iia 1m semapv:UnspecifiedMatching +MONDO:0032842 skos:exactMatch OMIM:618635 siddiqi syndrome semapv:UnspecifiedMatching +MONDO:0032843 skos:exactMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:UnspecifiedMatching +MONDO:0032844 skos:exactMatch OMIM:618641 infantile liver failure syndrome 3 semapv:UnspecifiedMatching +MONDO:0032845 skos:exactMatch OMIM:618643 spermatogenic failure 39 semapv:UnspecifiedMatching +MONDO:0032846 skos:exactMatch OMIM:618644 osteogenesis imperfecta, iia 20 semapv:UnspecifiedMatching +MONDO:0032848 skos:exactMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:UnspecifiedMatching +MONDO:0032849 skos:exactMatch OMIM:618651 halperin-birk syndrome semapv:UnspecifiedMatching +MONDO:0032850 skos:exactMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:UnspecifiedMatching +MONDO:0032851 skos:exactMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0032852 skos:exactMatch OMIM:618654 congenital myopathy 8 semapv:UnspecifiedMatching +MONDO:0032853 skos:exactMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032854 skos:exactMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:UnspecifiedMatching +MONDO:0032855 skos:exactMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:UnspecifiedMatching +MONDO:0032857 skos:exactMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:UnspecifiedMatching +MONDO:0032858 skos:exactMatch OMIM:618663 developmental and epileptic encephalopathy 81 semapv:UnspecifiedMatching +MONDO:0032859 skos:exactMatch OMIM:618664 spermatogenic failure 40 semapv:UnspecifiedMatching +MONDO:0032860 skos:exactMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:UnspecifiedMatching +MONDO:0032862 skos:exactMatch OMIM:618667 hydrocephalus, congenital, 4 semapv:UnspecifiedMatching +MONDO:0032863 skos:exactMatch OMIM:618670 spermatogenic failure 41 semapv:UnspecifiedMatching +MONDO:0032864 skos:exactMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0032865 skos:exactMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 semapv:UnspecifiedMatching +MONDO:0032866 skos:exactMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:UnspecifiedMatching +MONDO:0032867 skos:exactMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0032868 skos:exactMatch OMIM:618681 lessel-kubisch syndrome semapv:UnspecifiedMatching +MONDO:0032869 skos:exactMatch OMIM:618683 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 6 semapv:UnspecifiedMatching +MONDO:0032870 skos:exactMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0032871 skos:exactMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:UnspecifiedMatching +MONDO:0032872 skos:exactMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:UnspecifiedMatching +MONDO:0032873 skos:exactMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:UnspecifiedMatching +MONDO:0032874 skos:exactMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:UnspecifiedMatching +MONDO:0032875 skos:exactMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:UnspecifiedMatching +MONDO:0032876 skos:exactMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:UnspecifiedMatching +MONDO:0032877 skos:exactMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:UnspecifiedMatching +MONDO:0032878 skos:exactMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:UnspecifiedMatching +MONDO:0032879 skos:exactMatch OMIM:618719 megabladder, congenital semapv:UnspecifiedMatching +MONDO:0032880 skos:exactMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:UnspecifiedMatching +MONDO:0032881 skos:exactMatch OMIM:618723 premature ovarian failure 16 semapv:UnspecifiedMatching +MONDO:0032882 skos:exactMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:UnspecifiedMatching +MONDO:0032883 skos:exactMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:UnspecifiedMatching +MONDO:0032884 skos:exactMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:UnspecifiedMatching +MONDO:0032885 skos:exactMatch OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia semapv:UnspecifiedMatching +MONDO:0032886 skos:exactMatch OMIM:618729 liang-wang syndrome semapv:UnspecifiedMatching +MONDO:0032887 skos:exactMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:UnspecifiedMatching +MONDO:0032888 skos:exactMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:UnspecifiedMatching +MONDO:0032889 skos:exactMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0032890 skos:exactMatch OMIM:618733 neuromuscular oculoauditory syndrome semapv:UnspecifiedMatching +MONDO:0032891 skos:exactMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:UnspecifiedMatching +MONDO:0032892 skos:exactMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:UnspecifiedMatching +MONDO:0032893 skos:exactMatch OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 semapv:UnspecifiedMatching +MONDO:0032894 skos:exactMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:UnspecifiedMatching +MONDO:0032895 skos:exactMatch OMIM:618744 developmental and epileptic encephalopathy 83 semapv:UnspecifiedMatching +MONDO:0032896 skos:exactMatch OMIM:618745 spermatogenic failure 42 semapv:UnspecifiedMatching +MONDO:0032897 skos:exactMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0032898 skos:exactMatch OMIM:618751 spermatogenic failure 43 semapv:UnspecifiedMatching +MONDO:0032899 skos:exactMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032900 skos:exactMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:UnspecifiedMatching +MONDO:0032901 skos:exactMatch OMIM:618761 catifa syndrome semapv:UnspecifiedMatching +MONDO:0032902 skos:exactMatch OMIM:618763 joubert syndrome 36 semapv:UnspecifiedMatching +MONDO:0032903 skos:exactMatch OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum semapv:UnspecifiedMatching +MONDO:0032904 skos:exactMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:UnspecifiedMatching +MONDO:0032905 skos:exactMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032906 skos:exactMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032907 skos:exactMatch OMIM:618773 lymphatic malformation 8 semapv:UnspecifiedMatching +MONDO:0032908 skos:exactMatch OMIM:618774 cebalid syndrome semapv:UnspecifiedMatching +MONDO:0032909 skos:exactMatch OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 semapv:UnspecifiedMatching +MONDO:0032910 skos:exactMatch OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 semapv:UnspecifiedMatching +MONDO:0032911 skos:exactMatch OMIM:618778 deafness, autosomal dominant 75 semapv:UnspecifiedMatching +MONDO:0032912 skos:exactMatch OMIM:618779 coffin-siris syndrome 11 semapv:UnspecifiedMatching +MONDO:0032913 skos:exactMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:UnspecifiedMatching +MONDO:0032914 skos:exactMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:UnspecifiedMatching +MONDO:0032915 skos:exactMatch OMIM:618782 long qt syndrome 16 semapv:UnspecifiedMatching +MONDO:0032916 skos:exactMatch OMIM:618786 imagawa-matsumoto syndrome semapv:UnspecifiedMatching +MONDO:0032917 skos:exactMatch OMIM:618787 deafness, autosomal dominant 76 semapv:UnspecifiedMatching +MONDO:0032918 skos:exactMatch OMIM:618792 developmental and epileptic encephalopathy 84 semapv:UnspecifiedMatching +MONDO:0032919 skos:exactMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:UnspecifiedMatching +MONDO:0032920 skos:exactMatch OMIM:618795 juvenile arthritis semapv:UnspecifiedMatching +MONDO:0032921 skos:exactMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:UnspecifiedMatching +MONDO:0032922 skos:exactMatch OMIM:618798 beck-fahrner syndrome semapv:UnspecifiedMatching +MONDO:0032923 skos:exactMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:UnspecifiedMatching +MONDO:0032924 skos:exactMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:UnspecifiedMatching +MONDO:0032925 skos:exactMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:UnspecifiedMatching +MONDO:0032926 skos:exactMatch OMIM:618804 sandestig-stefanova syndrome semapv:UnspecifiedMatching +MONDO:0032927 skos:exactMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:UnspecifiedMatching +MONDO:0032928 skos:exactMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032930 skos:exactMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:UnspecifiedMatching +MONDO:0032931 skos:exactMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:UnspecifiedMatching +MONDO:0032932 skos:exactMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:UnspecifiedMatching +MONDO:0032933 skos:exactMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032934 skos:exactMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:UnspecifiedMatching +MONDO:0032935 skos:exactMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:UnspecifiedMatching +MONDO:0032936 skos:exactMatch OMIM:618822 congenital myopathy 9a semapv:UnspecifiedMatching +MONDO:0032937 skos:exactMatch OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions semapv:UnspecifiedMatching +MONDO:0032938 skos:exactMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:UnspecifiedMatching +MONDO:0032939 skos:exactMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:UnspecifiedMatching +MONDO:0032940 skos:exactMatch OMIM:618826 retinitis pigmentosa 88 semapv:UnspecifiedMatching +MONDO:0032941 skos:exactMatch OMIM:618827 myopia 27, autosomal dominant semapv:UnspecifiedMatching +MONDO:0032942 skos:exactMatch OMIM:618828 nabais sa-de vries syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0032943 skos:exactMatch OMIM:618829 nabais sa-de vries syndrome, iia 2 semapv:UnspecifiedMatching +MONDO:0033004 skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:UnspecifiedMatching +MONDO:0033005 skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:UnspecifiedMatching +MONDO:0033006 skos:exactMatch OMIM:301006 galloway-mowat syndrome 2, X-linked semapv:UnspecifiedMatching +MONDO:0033007 skos:exactMatch OMIM:617729 galloway-mowat syndrome 3 semapv:UnspecifiedMatching +MONDO:0033008 skos:exactMatch OMIM:617730 galloway-mowat syndrome 4 semapv:UnspecifiedMatching +MONDO:0033009 skos:exactMatch OMIM:617731 galloway-mowat syndrome 5 semapv:UnspecifiedMatching +MONDO:0033010 skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:UnspecifiedMatching +MONDO:0033012 skos:exactMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:UnspecifiedMatching +MONDO:0033013 skos:exactMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:UnspecifiedMatching +MONDO:0033014 skos:exactMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:UnspecifiedMatching +MONDO:0033015 skos:exactMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:UnspecifiedMatching +MONDO:0033043 skos:exactMatch OMIM:617560 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy semapv:UnspecifiedMatching +MONDO:0033044 skos:exactMatch OMIM:617562 meckel syndrome 13 semapv:UnspecifiedMatching +MONDO:0033045 skos:exactMatch OMIM:617563 orofaciodigital syndrome 16 semapv:UnspecifiedMatching +MONDO:0033046 skos:exactMatch OMIM:617564 meier-gorlin syndrome 8 semapv:UnspecifiedMatching +MONDO:0033047 skos:exactMatch OMIM:617565 perrault syndrome 6 semapv:UnspecifiedMatching +MONDO:0033091 skos:exactMatch OMIM:617571 ichthyosis, congenital, autosomal recessive 14 semapv:UnspecifiedMatching +MONDO:0033092 skos:exactMatch OMIM:617574 ichthyosis, congenital, autosomal recessive 13 semapv:UnspecifiedMatching +MONDO:0033115 skos:exactMatch OMIM:617584 spinocerebellar ataxia, autosomal recessive 25 semapv:UnspecifiedMatching +MONDO:0033116 skos:exactMatch OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 semapv:UnspecifiedMatching +MONDO:0033123 skos:exactMatch OMIM:617572 exudative vitreoretinopathy 7 semapv:UnspecifiedMatching +MONDO:0033135 skos:exactMatch OMIM:618279 charcot-marie-tooth disease, demyelinating, iia 1g semapv:UnspecifiedMatching +MONDO:0033196 skos:exactMatch omim.ps:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching +MONDO:0033198 skos:exactMatch OMIM:617637 deafness, autosomal recessive 106 semapv:UnspecifiedMatching +MONDO:0033199 skos:exactMatch OMIM:617639 deafness, autosomal recessive 107 semapv:UnspecifiedMatching +MONDO:0033200 skos:exactMatch OMIM:617654 deafness, autosomal recessive 108 semapv:UnspecifiedMatching +MONDO:0033201 skos:exactMatch OMIM:618003 deafness, autosomal recessive 57 semapv:UnspecifiedMatching +MONDO:0033202 skos:exactMatch OMIM:618013 deafness, autosomal recessive 109 semapv:UnspecifiedMatching +MONDO:0033203 skos:exactMatch OMIM:617575 reni syndrome semapv:UnspecifiedMatching +MONDO:0033204 skos:exactMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:UnspecifiedMatching +MONDO:0033258 skos:exactMatch OMIM:617605 deafness, autosomal dominant 71 semapv:UnspecifiedMatching +MONDO:0033259 skos:exactMatch OMIM:617606 deafness, autosomal dominant 72 semapv:UnspecifiedMatching +MONDO:0033260 skos:exactMatch OMIM:617663 deafness, autosomal dominant 73 semapv:UnspecifiedMatching +MONDO:0033261 skos:exactMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:UnspecifiedMatching +MONDO:0033262 skos:exactMatch OMIM:617609 nephrotic syndrome, iia 15 semapv:UnspecifiedMatching +MONDO:0033280 skos:exactMatch OMIM:617783 nephrotic syndrome, iia 16 semapv:UnspecifiedMatching +MONDO:0033281 skos:exactMatch OMIM:617610 polycystic kidney disease 5 semapv:UnspecifiedMatching +MONDO:0033282 skos:exactMatch OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 semapv:UnspecifiedMatching +MONDO:0033304 skos:exactMatch omim.ps:400043 Deafness, Y-linked semapv:UnspecifiedMatching +MONDO:0033308 skos:exactMatch OMIM:617622 joubert syndrome 30 semapv:UnspecifiedMatching +MONDO:0033309 skos:exactMatch OMIM:617757 joubert syndrome 32 semapv:UnspecifiedMatching +MONDO:0033310 skos:exactMatch OMIM:617761 joubert syndrome 31 semapv:UnspecifiedMatching +MONDO:0033311 skos:exactMatch OMIM:617767 joubert syndrome 33 semapv:UnspecifiedMatching +MONDO:0033312 skos:exactMatch OMIM:617629 schizophrenia 19 semapv:UnspecifiedMatching +MONDO:0033352 skos:exactMatch omim.ps:605253 Neuropathy, congenital hypomelinating semapv:UnspecifiedMatching +MONDO:0033361 skos:exactMatch OMIM:617350 developmental and epileptic encephalopathy 52 semapv:UnspecifiedMatching +MONDO:0033362 skos:exactMatch OMIM:617389 developmental and epileptic encephalopathy 53 semapv:UnspecifiedMatching +MONDO:0033363 skos:exactMatch OMIM:617391 developmental and epileptic encephalopathy 54 semapv:UnspecifiedMatching +MONDO:0033364 skos:exactMatch OMIM:617599 developmental and epileptic encephalopathy 55 semapv:UnspecifiedMatching +MONDO:0033365 skos:exactMatch OMIM:617665 developmental and epileptic encephalopathy 56 semapv:UnspecifiedMatching +MONDO:0033366 skos:exactMatch OMIM:617771 developmental and epileptic encephalopathy 57 semapv:UnspecifiedMatching +MONDO:0033367 skos:exactMatch OMIM:617830 developmental and epileptic encephalopathy 58 semapv:UnspecifiedMatching +MONDO:0033368 skos:exactMatch OMIM:617904 developmental and epileptic encephalopathy 59 semapv:UnspecifiedMatching +MONDO:0033369 skos:exactMatch OMIM:617929 developmental and epileptic encephalopathy 60 semapv:UnspecifiedMatching +MONDO:0033370 skos:exactMatch OMIM:617933 developmental and epileptic encephalopathy 61 semapv:UnspecifiedMatching +MONDO:0033371 skos:exactMatch OMIM:617938 developmental and epileptic encephalopathy 62 semapv:UnspecifiedMatching +MONDO:0033372 skos:exactMatch OMIM:617976 developmental and epileptic encephalopathy 63 semapv:UnspecifiedMatching +MONDO:0033373 skos:exactMatch OMIM:618004 developmental and epileptic encephalopathy 64 semapv:UnspecifiedMatching +MONDO:0033374 skos:exactMatch OMIM:618008 developmental and epileptic encephalopathy 65 semapv:UnspecifiedMatching +MONDO:0033375 skos:exactMatch OMIM:617926 orofaciodigital syndrome 17 semapv:UnspecifiedMatching +MONDO:0033479 skos:exactMatch OMIM:617691 spinocerebellar ataxia 44 semapv:UnspecifiedMatching +MONDO:0033480 skos:exactMatch OMIM:617769 spinocerebellar ataxia 45 semapv:UnspecifiedMatching +MONDO:0033481 skos:exactMatch OMIM:617770 spinocerebellar ataxia 46 semapv:UnspecifiedMatching +MONDO:0033482 skos:exactMatch OMIM:617931 spinocerebellar ataxia 47 semapv:UnspecifiedMatching +MONDO:0033483 skos:exactMatch OMIM:617907 erythrocytosis, familial, 5 semapv:UnspecifiedMatching +MONDO:0033485 skos:exactMatch OMIM:617895 short-rib thoracic dysplasia 19 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0033486 skos:exactMatch OMIM:617899 leukodystrophy, hypomyelinating, 14 semapv:UnspecifiedMatching +MONDO:0033492 skos:exactMatch OMIM:617808 coffin-siris syndrome 6 semapv:UnspecifiedMatching +MONDO:0033493 skos:exactMatch OMIM:617626 fibromatosis, gingival, 5 semapv:UnspecifiedMatching +MONDO:0033532 skos:exactMatch OMIM:618950 suleiman-el-hattab syndrome semapv:UnspecifiedMatching +MONDO:0033533 skos:exactMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:UnspecifiedMatching +MONDO:0033534 skos:exactMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:UnspecifiedMatching +MONDO:0033537 skos:exactMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:UnspecifiedMatching +MONDO:0033541 skos:exactMatch OMIM:618963 immunodeficiency 69 semapv:UnspecifiedMatching +MONDO:0033542 skos:exactMatch OMIM:618969 immunodeficiency 70 semapv:UnspecifiedMatching +MONDO:0033543 skos:exactMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:UnspecifiedMatching +MONDO:0033544 skos:exactMatch OMIM:618971 tolchin-le caignec syndrome semapv:UnspecifiedMatching +MONDO:0033545 skos:exactMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:UnspecifiedMatching +MONDO:0033546 skos:exactMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:UnspecifiedMatching +MONDO:0033547 skos:exactMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:UnspecifiedMatching +MONDO:0033548 skos:exactMatch OMIM:618975 congenital myopathy 17 semapv:UnspecifiedMatching +MONDO:0033549 skos:exactMatch OMIM:618977 optic atrophy 12 semapv:UnspecifiedMatching +MONDO:0033550 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching +MONDO:0033551 skos:exactMatch OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation semapv:UnspecifiedMatching +MONDO:0033552 skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching +MONDO:0033554 skos:exactMatch OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:UnspecifiedMatching +MONDO:0033555 skos:exactMatch OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:UnspecifiedMatching +MONDO:0033556 skos:exactMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 semapv:UnspecifiedMatching +MONDO:0033557 skos:exactMatch OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome semapv:UnspecifiedMatching +MONDO:0033558 skos:exactMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:UnspecifiedMatching +MONDO:0033559 skos:exactMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:UnspecifiedMatching +MONDO:0033560 skos:exactMatch OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 semapv:UnspecifiedMatching +MONDO:0033561 skos:exactMatch OMIM:619004 deeah syndrome semapv:UnspecifiedMatching +MONDO:0033562 skos:exactMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:UnspecifiedMatching +MONDO:0033563 skos:exactMatch OMIM:619007 retinitis pigmentosa 90 semapv:UnspecifiedMatching +MONDO:0033564 skos:exactMatch OMIM:619009 oocyte/zygote/embryo maturation arrest 8 semapv:UnspecifiedMatching +MONDO:0033565 skos:exactMatch OMIM:619011 oocyte/zygote/embryo maturation arrest 9 semapv:UnspecifiedMatching +MONDO:0033566 skos:exactMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:UnspecifiedMatching +MONDO:0033569 skos:exactMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:UnspecifiedMatching +MONDO:0033570 skos:exactMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:UnspecifiedMatching +MONDO:0033571 skos:exactMatch OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus semapv:UnspecifiedMatching +MONDO:0033572 skos:exactMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:UnspecifiedMatching +MONDO:0033613 skos:exactMatch OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities semapv:UnspecifiedMatching +MONDO:0033614 skos:exactMatch OMIM:619027 spastic paraplegia 83, autosomal recessive semapv:UnspecifiedMatching +MONDO:0033615 skos:exactMatch OMIM:619028 coenzyme Q10 deficiency, primary, 9 semapv:UnspecifiedMatching +MONDO:0033618 skos:exactMatch OMIM:619033 vissers-bodmer syndrome semapv:UnspecifiedMatching +MONDO:0033619 skos:exactMatch OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy semapv:UnspecifiedMatching +MONDO:0033620 skos:exactMatch OMIM:619040 myofibrillar myopathy 10 semapv:UnspecifiedMatching +MONDO:0033621 skos:exactMatch OMIM:619042 spinal muscular atrophy, infantile, james iia semapv:UnspecifiedMatching +MONDO:0033622 skos:exactMatch OMIM:619044 spermatogenic failure 44 semapv:UnspecifiedMatching +MONDO:0033630 skos:exactMatch OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0033631 skos:exactMatch OMIM:619057 combined oxidative phosphorylation deficiency 51 semapv:UnspecifiedMatching +MONDO:0033635 skos:exactMatch OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 semapv:UnspecifiedMatching +MONDO:0033636 skos:exactMatch OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 semapv:UnspecifiedMatching +MONDO:0033637 skos:exactMatch OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 semapv:UnspecifiedMatching +MONDO:0033638 skos:exactMatch OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 semapv:UnspecifiedMatching +MONDO:0033639 skos:exactMatch OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 semapv:UnspecifiedMatching +MONDO:0033640 skos:exactMatch OMIM:619073 vitamin d-dependent rickets, iia 3 semapv:UnspecifiedMatching +MONDO:0033641 skos:exactMatch OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay semapv:UnspecifiedMatching +MONDO:0033642 skos:exactMatch OMIM:619075 bachmann-bupp syndrome semapv:UnspecifiedMatching +MONDO:0033643 skos:exactMatch OMIM:619079 inflammatory bowel disease (crohn disease) 30 semapv:UnspecifiedMatching +MONDO:0033644 skos:exactMatch OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 semapv:UnspecifiedMatching +MONDO:0033645 skos:exactMatch OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 semapv:UnspecifiedMatching +MONDO:0033646 skos:exactMatch OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 semapv:UnspecifiedMatching +MONDO:0033649 skos:exactMatch OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 semapv:UnspecifiedMatching +MONDO:0033650 skos:exactMatch OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 semapv:UnspecifiedMatching +MONDO:0033651 skos:exactMatch OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 semapv:UnspecifiedMatching +MONDO:0033652 skos:exactMatch OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 semapv:UnspecifiedMatching +MONDO:0033653 skos:exactMatch OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 semapv:UnspecifiedMatching +MONDO:0033654 skos:exactMatch OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 semapv:UnspecifiedMatching +MONDO:0033655 skos:exactMatch OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 semapv:UnspecifiedMatching +MONDO:0033656 skos:exactMatch OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 semapv:UnspecifiedMatching +MONDO:0033657 skos:exactMatch OMIM:619071 leukodystrophy, hypomyelinating, 20 semapv:UnspecifiedMatching +MONDO:0033658 skos:exactMatch OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy semapv:UnspecifiedMatching +MONDO:0033662 skos:exactMatch OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy semapv:UnspecifiedMatching +MONDO:0033664 skos:exactMatch OMIM:619080 kilquist syndrome semapv:UnspecifiedMatching +MONDO:0033665 skos:exactMatch OMIM:619081 deafness, autosomal dominant 78 semapv:UnspecifiedMatching +MONDO:0033667 skos:exactMatch OMIM:619083 delpire-mcneill syndrome semapv:UnspecifiedMatching +MONDO:0033668 skos:exactMatch OMIM:619086 deafness, autosomal dominant 79 semapv:UnspecifiedMatching +MONDO:0033669 skos:exactMatch OMIM:619087 noonan syndrome 13 semapv:UnspecifiedMatching +MONDO:0033670 skos:exactMatch OMIM:619093 deafness, autosomal recessive 116 semapv:UnspecifiedMatching +MONDO:0033671 skos:exactMatch OMIM:619094 spermatogenic failure 45 semapv:UnspecifiedMatching +MONDO:0033673 skos:exactMatch OMIM:619095 spermatogenic failure 46 semapv:UnspecifiedMatching +MONDO:0033864 skos:exactMatch OMIM:618218 baker-gordon syndrome semapv:UnspecifiedMatching +MONDO:0033885 skos:exactMatch omim.ps:220110 Mitochondrial complex IV deficiency, nuclear-type semapv:UnspecifiedMatching +MONDO:0033946 skos:exactMatch OMIM:106100 angioedema, hereditary, 1 semapv:UnspecifiedMatching +MONDO:0034022 skos:exactMatch OMIM:616471 bethlem myopathy 2 semapv:UnspecifiedMatching +MONDO:0034054 skos:exactMatch OMIM:618261 lymphoproliferative syndrome 3 semapv:UnspecifiedMatching +MONDO:0034106 skos:exactMatch OMIM:618379 developmental and epileptic encephalopathy 73 semapv:UnspecifiedMatching +MONDO:0034109 skos:exactMatch OMIM:618414 congenital myopathy 14 semapv:UnspecifiedMatching +MONDO:0034121 skos:exactMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:UnspecifiedMatching +MONDO:0034145 skos:exactMatch OMIM:618440 oculoskeletodental syndrome semapv:UnspecifiedMatching +MONDO:0035133 skos:exactMatch OMIM:617991 chung-jansen syndrome semapv:UnspecifiedMatching +MONDO:0035819 skos:exactMatch OMIM:619273 cimdag syndrome semapv:UnspecifiedMatching +MONDO:0036189 skos:exactMatch OMIM:619318 oculogastrointestinal neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0036193 skos:exactMatch OMIM:619279 parkinsonism with polyneuropathy semapv:UnspecifiedMatching +MONDO:0036212 skos:exactMatch OMIM:619338 cataracts, spastic paraparesis, and speech delay semapv:UnspecifiedMatching +MONDO:0036482 skos:exactMatch OMIM:617871 retinitis pigmentosa 81 semapv:UnspecifiedMatching +MONDO:0036483 skos:exactMatch OMIM:617866 short-rib thoracic dysplasia 18 with polydactyly semapv:UnspecifiedMatching +MONDO:0036484 skos:exactMatch OMIM:617882 charcot-marie-tooth disease, dominant intermediate g semapv:UnspecifiedMatching +MONDO:0040500 skos:exactMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:UnspecifiedMatching +MONDO:0040501 skos:exactMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:UnspecifiedMatching +MONDO:0040502 skos:exactMatch OMIM:617825 glucocorticoid deficiency 5 semapv:UnspecifiedMatching +MONDO:0040503 skos:exactMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:UnspecifiedMatching +MONDO:0042486 skos:exactMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:UnspecifiedMatching +MONDO:0042490 skos:exactMatch OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0042499 skos:exactMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:UnspecifiedMatching +MONDO:0042977 skos:exactMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:UnspecifiedMatching +MONDO:0042979 skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:UnspecifiedMatching +MONDO:0043003 skos:exactMatch OMIM:100600 acanthosis nigricans semapv:UnspecifiedMatching +MONDO:0043364 skos:exactMatch OMIM:261500 eosinophil peroxidase deficiency semapv:UnspecifiedMatching +MONDO:0043878 skos:exactMatch omim.ps:165500 Optic atrophy semapv:UnspecifiedMatching +MONDO:0044202 skos:exactMatch omim.ps:128200 Episodic kinesigenic dyskinesia semapv:UnspecifiedMatching +MONDO:0044203 skos:exactMatch omim.ps:136520 Foveal hypoplasia semapv:UnspecifiedMatching +MONDO:0044204 skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:UnspecifiedMatching +MONDO:0044205 skos:exactMatch OMIM:617941 shwachman-diamond syndrome 2 semapv:UnspecifiedMatching +MONDO:0044206 skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0044207 skos:exactMatch OMIM:245480 specific granule deficiency 1 semapv:UnspecifiedMatching +MONDO:0044208 skos:exactMatch OMIM:617475 specific granule deficiency 2 semapv:UnspecifiedMatching +MONDO:0044209 skos:exactMatch omim.ps:614372 Lectin complement activation pathway defects semapv:UnspecifiedMatching +MONDO:0044214 skos:exactMatch OMIM:105570 androstenone, ability to smell semapv:UnspecifiedMatching +MONDO:0044215 skos:exactMatch OMIM:107850 arm folding preference semapv:UnspecifiedMatching +MONDO:0044216 skos:exactMatch OMIM:108320 artichoke, modification of taste by semapv:UnspecifiedMatching +MONDO:0044217 skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching +MONDO:0044218 skos:exactMatch OMIM:109600 beeturia semapv:UnspecifiedMatching +MONDO:0044219 skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching +MONDO:0044220 skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching +MONDO:0044221 skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching +MONDO:0044222 skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching +MONDO:0044223 skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching +MONDO:0044224 skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching +MONDO:0044227 skos:exactMatch OMIM:126100 dimples, facial semapv:UnspecifiedMatching +MONDO:0044228 skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching +MONDO:0044229 skos:exactMatch OMIM:131450 epiblepharon of lower 51d semapv:UnspecifiedMatching +MONDO:0044230 skos:exactMatch OMIM:131460 epiblepharon of upper 51d semapv:UnspecifiedMatching +MONDO:0044231 skos:exactMatch OMIM:133800 eyebrow, whorl 1n semapv:UnspecifiedMatching +MONDO:0044232 skos:exactMatch OMIM:136100 fingers, relative length of semapv:UnspecifiedMatching +MONDO:0044233 skos:exactMatch OMIM:139400 hair whorl semapv:UnspecifiedMatching +MONDO:0044234 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching +MONDO:0044235 skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching +MONDO:0044236 skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching +MONDO:0044237 skos:exactMatch OMIM:144020 hypercholesterolemia suppressor semapv:UnspecifiedMatching +MONDO:0044238 skos:exactMatch OMIM:152600 lunulae of fingernails semapv:UnspecifiedMatching +MONDO:0044239 skos:exactMatch OMIM:155150 median-ulnar nerve communications semapv:UnspecifiedMatching +MONDO:0044240 skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching +MONDO:0044241 skos:exactMatch OMIM:159410 mydriatic response to pharmacologic agents semapv:UnspecifiedMatching +MONDO:0044242 skos:exactMatch OMIM:159420 mydriasis, congenital semapv:UnspecifiedMatching +MONDO:0044243 skos:exactMatch OMIM:161070 nail high-sulfur protein semapv:UnspecifiedMatching +MONDO:0044244 skos:exactMatch OMIM:161080 nail low-sulfur protein semapv:UnspecifiedMatching +MONDO:0044245 skos:exactMatch OMIM:161100 nailbeds, pigmentation of semapv:UnspecifiedMatching +MONDO:0044246 skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching +MONDO:0044247 skos:exactMatch OMIM:167700 palmomental reflex semapv:UnspecifiedMatching +MONDO:0044248 skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching +MONDO:0044249 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching +MONDO:0044250 skos:exactMatch OMIM:189300 tongue curling, folding, or rolling semapv:UnspecifiedMatching +MONDO:0044251 skos:exactMatch OMIM:209800 australia antigen semapv:UnspecifiedMatching +MONDO:0044252 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching +MONDO:0044253 skos:exactMatch OMIM:221760 dermatoglyphics--palmar triradius d, absence of semapv:UnspecifiedMatching +MONDO:0044254 skos:exactMatch OMIM:221780 dermatoglyphics--hypothenar radial arch semapv:UnspecifiedMatching +MONDO:0044255 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching +MONDO:0044256 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching +MONDO:0044257 skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching +MONDO:0044258 skos:exactMatch OMIM:250650 methane production semapv:UnspecifiedMatching +MONDO:0044259 skos:exactMatch OMIM:266300 skin/hair/eye pigmentation, variation in, 2 semapv:UnspecifiedMatching +MONDO:0044261 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching +MONDO:0044262 skos:exactMatch OMIM:304300 cyanide, inability to smell semapv:UnspecifiedMatching +MONDO:0044264 skos:exactMatch OMIM:312200 radial loop, plain, on right index finger semapv:UnspecifiedMatching +MONDO:0044265 skos:exactMatch OMIM:314240 tooth size semapv:UnspecifiedMatching +MONDO:0044268 skos:exactMatch OMIM:600952 transsexuality semapv:UnspecifiedMatching +MONDO:0044269 skos:exactMatch OMIM:601696 novelty seeking personality trait semapv:UnspecifiedMatching +MONDO:0044270 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching +MONDO:0044271 skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:UnspecifiedMatching +MONDO:0044272 skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:UnspecifiedMatching +MONDO:0044273 skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching +MONDO:0044274 skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching +MONDO:0044275 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching +MONDO:0044276 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching +MONDO:0044277 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching +MONDO:0044278 skos:exactMatch omim.ps:612975 Short sleep, familial natural semapv:UnspecifiedMatching +MONDO:0044279 skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:UnspecifiedMatching +MONDO:0044280 skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching +MONDO:0044281 skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching +MONDO:0044282 skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching +MONDO:0044283 skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:UnspecifiedMatching +MONDO:0044284 skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching +MONDO:0044299 skos:exactMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:UnspecifiedMatching +MONDO:0044300 skos:exactMatch OMIM:617100 familial adenomatous polyposis 4 semapv:UnspecifiedMatching +MONDO:0044301 skos:exactMatch OMIM:617349 aortic aneurysm, familial thoracic 11, susceptibility to semapv:UnspecifiedMatching +MONDO:0044302 skos:exactMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:UnspecifiedMatching +MONDO:0044303 skos:exactMatch OMIM:617364 congenital heart defects and ectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0044304 skos:exactMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:UnspecifiedMatching +MONDO:0044305 skos:exactMatch OMIM:617392 ectodermal dysplasia 13, hair/tooth iia semapv:UnspecifiedMatching +MONDO:0044306 skos:exactMatch OMIM:617393 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination semapv:UnspecifiedMatching +MONDO:0044308 skos:exactMatch OMIM:617406 bardet-biedl syndrome 21 semapv:UnspecifiedMatching +MONDO:0044309 skos:exactMatch OMIM:617408 diamond-blackfan anemia 16 semapv:UnspecifiedMatching +MONDO:0044310 skos:exactMatch OMIM:617409 diamond-blackfan anemia 17 semapv:UnspecifiedMatching +MONDO:0044311 skos:exactMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:UnspecifiedMatching +MONDO:0044312 skos:exactMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:UnspecifiedMatching +MONDO:0044313 skos:exactMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:UnspecifiedMatching +MONDO:0044314 skos:exactMatch OMIM:617433 retinitis pigmentosa 78 semapv:UnspecifiedMatching +MONDO:0044315 skos:exactMatch OMIM:617439 craniosynostosis 7 semapv:UnspecifiedMatching +MONDO:0044316 skos:exactMatch OMIM:617441 thrombocytopenia, anemia, and myelofibrosis semapv:UnspecifiedMatching +MONDO:0044317 skos:exactMatch OMIM:617442 premature ovarian failure 13 semapv:UnspecifiedMatching +MONDO:0044318 skos:exactMatch OMIM:617450 jansen-de vries syndrome semapv:UnspecifiedMatching +MONDO:0044319 skos:exactMatch OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies semapv:UnspecifiedMatching +MONDO:0044320 skos:exactMatch OMIM:617460 retinitis pigmentosa 79 semapv:UnspecifiedMatching +MONDO:0044321 skos:exactMatch OMIM:617478 structural heart defects and renal anomalies syndrome semapv:UnspecifiedMatching +MONDO:0044322 skos:exactMatch OMIM:617532 intellectual developmental disorder with neuropsychiatric features semapv:UnspecifiedMatching +MONDO:0044323 skos:exactMatch OMIM:617537 rahman syndrome semapv:UnspecifiedMatching +MONDO:0044324 skos:exactMatch OMIM:617694 al kaissi syndrome semapv:UnspecifiedMatching +MONDO:0044325 skos:exactMatch OMIM:617784 fanconi anemia, complementation group w semapv:UnspecifiedMatching +MONDO:0044326 skos:exactMatch OMIM:617836 developmental delay and seizures with or without movement abnormalities semapv:UnspecifiedMatching +MONDO:0044327 skos:exactMatch OMIM:617875 polycystic liver disease 4 with or without kidney cysts semapv:UnspecifiedMatching +MONDO:0044328 skos:exactMatch OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly semapv:UnspecifiedMatching +MONDO:0044329 skos:exactMatch OMIM:617952 osteogenesis imperfecta, iia 18 semapv:UnspecifiedMatching +MONDO:0044330 skos:exactMatch OMIM:618011 hyperekplexia 4 semapv:UnspecifiedMatching +MONDO:0044350 skos:exactMatch OMIM:600166 hyperparathyroidism, primary, caused by water clear cell hyperplasia semapv:UnspecifiedMatching +MONDO:0044634 skos:exactMatch OMIM:617763 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:UnspecifiedMatching +MONDO:0044637 skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:UnspecifiedMatching +MONDO:0044645 skos:exactMatch omim.ps:252270 Monosomy 7 myelodysplasia and leukemia syndrome semapv:UnspecifiedMatching +MONDO:0044646 skos:exactMatch OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching +MONDO:0044660 skos:exactMatch OMIM:614674 periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching +MONDO:0044696 skos:exactMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:UnspecifiedMatching +MONDO:0044701 skos:exactMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:UnspecifiedMatching +MONDO:0044702 skos:exactMatch OMIM:301018 deafness, X-linked 7 semapv:UnspecifiedMatching +MONDO:0044714 skos:exactMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:UnspecifiedMatching +MONDO:0044718 skos:exactMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:UnspecifiedMatching +MONDO:0044720 skos:exactMatch OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome semapv:UnspecifiedMatching +MONDO:0044721 skos:exactMatch OMIM:617514 immunodeficiency 52 semapv:UnspecifiedMatching +MONDO:0044723 skos:exactMatch OMIM:617248 3-methylglutaconic aciduria, iia 8 semapv:UnspecifiedMatching +MONDO:0044724 skos:exactMatch OMIM:617698 3-methylglutaconic aciduria, iia 9 semapv:UnspecifiedMatching +MONDO:0044725 skos:exactMatch OMIM:617827 immunodeficiency 55 semapv:UnspecifiedMatching +MONDO:0044726 skos:exactMatch OMIM:617595 birk-landau-perez syndrome semapv:UnspecifiedMatching +MONDO:0044738 skos:exactMatch OMIM:617557 gabriele-de vries syndrome semapv:UnspecifiedMatching +MONDO:0044776 skos:exactMatch OMIM:612885 premature ovarian failure 10 semapv:UnspecifiedMatching +MONDO:0044777 skos:exactMatch OMIM:618014 premature ovarian failure 14 semapv:UnspecifiedMatching +MONDO:0044792 skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:UnspecifiedMatching +MONDO:0044807 skos:exactMatch omim.ps:128100 Dystonia semapv:UnspecifiedMatching +MONDO:0044871 skos:exactMatch OMIM:611284 dystonia, focal, task-specific semapv:UnspecifiedMatching +MONDO:0049221 skos:exactMatch OMIM:301010 myopia 26, x-linked, female-limited semapv:UnspecifiedMatching +MONDO:0049222 skos:exactMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:UnspecifiedMatching +MONDO:0049223 skos:exactMatch OMIM:301014 osteogenesis imperfecta, iia 19 semapv:UnspecifiedMatching +MONDO:0054549 skos:exactMatch OMIM:617370 peroxisome biogenesis disorder 10b semapv:UnspecifiedMatching +MONDO:0054550 skos:exactMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:UnspecifiedMatching +MONDO:0054551 skos:exactMatch OMIM:617383 avascular necrosis of femoral head, primary, 2 semapv:UnspecifiedMatching +MONDO:0054559 skos:exactMatch OMIM:617395 congenital disorder of glycosylation, iia iiq semapv:UnspecifiedMatching +MONDO:0054560 skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:UnspecifiedMatching +MONDO:0054561 skos:exactMatch OMIM:617396 anauxetic dysplasia 2 semapv:UnspecifiedMatching +MONDO:0054565 skos:exactMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:UnspecifiedMatching +MONDO:0054573 skos:exactMatch OMIM:617435 lopes-maciel-rodan syndrome semapv:UnspecifiedMatching +MONDO:0054577 skos:exactMatch OMIM:617443 bleeding disorder, platelet-type, 21 semapv:UnspecifiedMatching +MONDO:0054581 skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:UnspecifiedMatching +MONDO:0054582 skos:exactMatch OMIM:617466 townes-brocks syndrome 2 semapv:UnspecifiedMatching +MONDO:0054588 skos:exactMatch OMIM:617506 noonan syndrome-like disorder with loose anagen hair 2 semapv:UnspecifiedMatching +MONDO:0054591 skos:exactMatch OMIM:617516 stankiewicz-isidor syndrome semapv:UnspecifiedMatching +MONDO:0054593 skos:exactMatch OMIM:617520 microcephaly 18, primary, autosomal dominant semapv:UnspecifiedMatching +MONDO:0054601 skos:exactMatch OMIM:617540 pituitary adenoma 5, multiple types semapv:UnspecifiedMatching +MONDO:0054602 skos:exactMatch OMIM:617542 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development semapv:UnspecifiedMatching +MONDO:0054615 skos:exactMatch OMIM:617576 spermatogenic failure 18 semapv:UnspecifiedMatching +MONDO:0054636 skos:exactMatch OMIM:617616 skraban-deardorff syndrome semapv:UnspecifiedMatching +MONDO:0054637 skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:UnspecifiedMatching +MONDO:0054654 skos:exactMatch OMIM:617664 combined oxidative phosphorylation deficiency 32 semapv:UnspecifiedMatching +MONDO:0054665 skos:exactMatch OMIM:617686 pituitary adenoma 3, multiple types semapv:UnspecifiedMatching +MONDO:0054666 skos:exactMatch OMIM:617690 ovarian dysgenesis 5 semapv:UnspecifiedMatching +MONDO:0054669 skos:exactMatch OMIM:617695 pontocerebellar hypoplasia, iia 11 semapv:UnspecifiedMatching +MONDO:0054677 skos:exactMatch OMIM:617713 combined oxidative phosphorylation deficiency 33 semapv:UnspecifiedMatching +MONDO:0054680 skos:exactMatch OMIM:617719 epiphyseal dysplasia, multiple, 7 semapv:UnspecifiedMatching +MONDO:0054691 skos:exactMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:UnspecifiedMatching +MONDO:0054695 skos:exactMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:UnspecifiedMatching +MONDO:0054696 skos:exactMatch OMIM:617585 immunodeficiency 53 semapv:UnspecifiedMatching +MONDO:0054697 skos:exactMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:UnspecifiedMatching +MONDO:0054698 skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:UnspecifiedMatching +MONDO:0054699 skos:exactMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:UnspecifiedMatching +MONDO:0054700 skos:exactMatch OMIM:618048 proteasome-associated autoinflammatory syndrome 2 semapv:UnspecifiedMatching +MONDO:0054701 skos:exactMatch OMIM:617768 kleefstra syndrome 2 semapv:UnspecifiedMatching +MONDO:0054708 skos:exactMatch OMIM:617781 retinitis pigmentosa 80 semapv:UnspecifiedMatching +MONDO:0054716 skos:exactMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0054722 skos:exactMatch OMIM:617809 geleophysic dysplasia 3 semapv:UnspecifiedMatching +MONDO:0054723 skos:exactMatch OMIM:617592 spermatogenic failure 19 semapv:UnspecifiedMatching +MONDO:0054724 skos:exactMatch OMIM:617593 spermatogenic failure 20 semapv:UnspecifiedMatching +MONDO:0054725 skos:exactMatch OMIM:617644 spermatogenic failure 21 semapv:UnspecifiedMatching +MONDO:0054726 skos:exactMatch OMIM:617706 spermatogenic failure 22 semapv:UnspecifiedMatching +MONDO:0054727 skos:exactMatch OMIM:617707 spermatogenic failure 23 semapv:UnspecifiedMatching +MONDO:0054728 skos:exactMatch OMIM:617959 spermatogenic failure 24 semapv:UnspecifiedMatching +MONDO:0054729 skos:exactMatch OMIM:617960 spermatogenic failure 25 semapv:UnspecifiedMatching +MONDO:0054730 skos:exactMatch OMIM:617961 spermatogenic failure 26 semapv:UnspecifiedMatching +MONDO:0054731 skos:exactMatch OMIM:617965 spermatogenic failure 27 semapv:UnspecifiedMatching +MONDO:0054732 skos:exactMatch OMIM:618086 spermatogenic failure 28 semapv:UnspecifiedMatching +MONDO:0054733 skos:exactMatch OMIM:618091 spermatogenic failure 29 semapv:UnspecifiedMatching +MONDO:0054736 skos:exactMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:UnspecifiedMatching +MONDO:0054737 skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:UnspecifiedMatching +MONDO:0054738 skos:exactMatch OMIM:617666 fraser syndrome 2 semapv:UnspecifiedMatching +MONDO:0054739 skos:exactMatch OMIM:617667 fraser syndrome 3 semapv:UnspecifiedMatching +MONDO:0054740 skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:UnspecifiedMatching +MONDO:0054741 skos:exactMatch OMIM:617872 combined oxidative phosphorylation deficiency 34 semapv:UnspecifiedMatching +MONDO:0054742 skos:exactMatch OMIM:617873 combined oxidative phosphorylation deficiency 35 semapv:UnspecifiedMatching +MONDO:0054743 skos:exactMatch OMIM:617874 polycystic liver disease 3 with or without kidney cysts semapv:UnspecifiedMatching +MONDO:0054748 skos:exactMatch OMIM:617883 fanconi anemia, complementation group s semapv:UnspecifiedMatching +MONDO:0054749 skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:UnspecifiedMatching +MONDO:0054750 skos:exactMatch OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 semapv:UnspecifiedMatching +MONDO:0054752 skos:exactMatch OMIM:617898 multiple synostoses syndrome 4 semapv:UnspecifiedMatching +MONDO:0054754 skos:exactMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:UnspecifiedMatching +MONDO:0054761 skos:exactMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0054763 skos:exactMatch OMIM:617916 neurodegeneration with brain iron accumulation 7 semapv:UnspecifiedMatching +MONDO:0054764 skos:exactMatch OMIM:617917 neurodegeneration with brain iron accumulation 8 semapv:UnspecifiedMatching +MONDO:0054765 skos:exactMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:UnspecifiedMatching +MONDO:0054770 skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:UnspecifiedMatching +MONDO:0054771 skos:exactMatch OMIM:617928 keratoconus 9 semapv:UnspecifiedMatching +MONDO:0054776 skos:exactMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:UnspecifiedMatching +MONDO:0054780 skos:exactMatch OMIM:617948 elliptocytosis 3 semapv:UnspecifiedMatching +MONDO:0054781 skos:exactMatch OMIM:617950 combined oxidative phosphorylation deficiency 36 semapv:UnspecifiedMatching +MONDO:0054782 skos:exactMatch OMIM:617951 leukodystrophy, hypomyelinating, 15 semapv:UnspecifiedMatching +MONDO:0054785 skos:exactMatch OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 semapv:UnspecifiedMatching +MONDO:0054791 skos:exactMatch OMIM:617964 leukodystrophy, hypomyelinating, 16 semapv:UnspecifiedMatching +MONDO:0054794 skos:exactMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:UnspecifiedMatching +MONDO:0054801 skos:exactMatch OMIM:617980 erythrocytosis, familial, 6 semapv:UnspecifiedMatching +MONDO:0054802 skos:exactMatch OMIM:617981 erythrocytosis, familial, 7 semapv:UnspecifiedMatching +MONDO:0054804 skos:exactMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0054805 skos:exactMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0054806 skos:exactMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0054813 skos:exactMatch OMIM:618000 ehlers-danlos syndrome, classic-like, 2 semapv:UnspecifiedMatching +MONDO:0054817 skos:exactMatch OMIM:618006 leukodystrophy, hypomyelinating, 17 semapv:UnspecifiedMatching +MONDO:0054831 skos:exactMatch OMIM:618027 coffin-siris syndrome 7 semapv:UnspecifiedMatching +MONDO:0054832 skos:exactMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:UnspecifiedMatching +MONDO:0054833 skos:exactMatch OMIM:618036 charcot-marie-tooth disease, axonal, iia 2dd semapv:UnspecifiedMatching +MONDO:0054835 skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:UnspecifiedMatching +MONDO:0054837 skos:exactMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:UnspecifiedMatching +MONDO:0054838 skos:exactMatch OMIM:618052 cardiomyopathy, familial hypertrophic, 27 semapv:UnspecifiedMatching +MONDO:0054842 skos:exactMatch OMIM:618061 polycystic kidney disease 6 with or without polycystic liver disease semapv:UnspecifiedMatching +MONDO:0054843 skos:exactMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:UnspecifiedMatching +MONDO:0054844 skos:exactMatch OMIM:618065 pontocerebellar hypoplasia, iia 1d semapv:UnspecifiedMatching +MONDO:0054845 skos:exactMatch OMIM:618067 developmental and epileptic encephalopathy 66 semapv:UnspecifiedMatching +MONDO:0054846 skos:exactMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:UnspecifiedMatching +MONDO:0054847 skos:exactMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:UnspecifiedMatching +MONDO:0054849 skos:exactMatch OMIM:618077 inflammatory bowel disease 29 semapv:UnspecifiedMatching +MONDO:0054850 skos:exactMatch OMIM:618078 ovarian dysgenesis 6 semapv:UnspecifiedMatching +MONDO:0054852 skos:exactMatch OMIM:618084 peeling skin syndrome 6 semapv:UnspecifiedMatching +MONDO:0054860 skos:exactMatch OMIM:618094 deafness, autosomal recessive 110 semapv:UnspecifiedMatching +MONDO:0054861 skos:exactMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:UnspecifiedMatching +MONDO:0054862 skos:exactMatch OMIM:618096 premature ovarian failure 15 semapv:UnspecifiedMatching +MONDO:0054865 skos:exactMatch omim.ps:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission semapv:UnspecifiedMatching +MONDO:0056795 skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:UnspecifiedMatching +MONDO:0056797 skos:exactMatch OMIM:617523 neurodevelopmental disorder with midbrain and hindbrain malformations semapv:UnspecifiedMatching +MONDO:0056822 skos:exactMatch OMIM:205000 amyotonia congenita semapv:UnspecifiedMatching +MONDO:0060455 skos:exactMatch OMIM:301015 hemolytic anemia, congenital, X-linked semapv:UnspecifiedMatching +MONDO:0060456 skos:exactMatch OMIM:302700 cerebral sclerosis, diffuse, scholz iia semapv:UnspecifiedMatching +MONDO:0060457 skos:exactMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:UnspecifiedMatching +MONDO:0060486 skos:exactMatch OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect semapv:UnspecifiedMatching +MONDO:0060489 skos:exactMatch OMIM:617480 46,xx sex reversal 4 semapv:UnspecifiedMatching +MONDO:0060490 skos:exactMatch OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies semapv:UnspecifiedMatching +MONDO:0060491 skos:exactMatch OMIM:617493 neurodevelopmental disorder with involuntary movements semapv:UnspecifiedMatching +MONDO:0060496 skos:exactMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:UnspecifiedMatching +MONDO:0060502 skos:exactMatch OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies semapv:UnspecifiedMatching +MONDO:0060507 skos:exactMatch OMIM:617547 retinal dystrophy with or without macular staphyloma semapv:UnspecifiedMatching +MONDO:0060510 skos:exactMatch OMIM:617561 cohen-gibson syndrome semapv:UnspecifiedMatching +MONDO:0060527 skos:exactMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:UnspecifiedMatching +MONDO:0060532 skos:exactMatch OMIM:617602 congenital heart defects and skeletal malformations syndrome semapv:UnspecifiedMatching +MONDO:0060533 skos:exactMatch OMIM:617604 microcephaly, short stature, and limb abnormalities semapv:UnspecifiedMatching +MONDO:0060549 skos:exactMatch OMIM:617641 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:UnspecifiedMatching +MONDO:0060550 skos:exactMatch OMIM:617642 polydactyly, postaxial, iia a7 semapv:UnspecifiedMatching +MONDO:0060551 skos:exactMatch OMIM:617643 cerebellar atrophy, developmental delay, and seizures semapv:UnspecifiedMatching +MONDO:0060554 skos:exactMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:UnspecifiedMatching +MONDO:0060555 skos:exactMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:UnspecifiedMatching +MONDO:0060556 skos:exactMatch OMIM:617662 joint laxity, short stature, and myopia semapv:UnspecifiedMatching +MONDO:0060562 skos:exactMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:UnspecifiedMatching +MONDO:0060564 skos:exactMatch OMIM:617671 helix syndrome semapv:UnspecifiedMatching +MONDO:0060568 skos:exactMatch OMIM:617682 pilarowski-bjornsson syndrome semapv:UnspecifiedMatching +MONDO:0060577 skos:exactMatch OMIM:617709 neurodevelopmental disorder with microcephaly, ataxia, and seizures semapv:UnspecifiedMatching +MONDO:0060578 skos:exactMatch OMIM:617710 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures semapv:UnspecifiedMatching +MONDO:0060582 skos:exactMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:UnspecifiedMatching +MONDO:0060583 skos:exactMatch OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia semapv:UnspecifiedMatching +MONDO:0060585 skos:exactMatch OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 semapv:UnspecifiedMatching +MONDO:0060589 skos:exactMatch OMIM:617732 facial palsy, congenital, with ptosis and velopharyngeal dysfunction semapv:UnspecifiedMatching +MONDO:0060591 skos:exactMatch OMIM:617744 immunodeficiency, developmental delay, and hypohomocysteinemia semapv:UnspecifiedMatching +MONDO:0060592 skos:exactMatch OMIM:617746 sweeney-cox syndrome semapv:UnspecifiedMatching +MONDO:0060593 skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching +MONDO:0060596 skos:exactMatch OMIM:617755 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:UnspecifiedMatching +MONDO:0060611 skos:exactMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:UnspecifiedMatching +MONDO:0060621 skos:exactMatch OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy semapv:UnspecifiedMatching +MONDO:0060622 skos:exactMatch OMIM:617804 neurodevelopmental disorder with variable motor and language impairment semapv:UnspecifiedMatching +MONDO:0060624 skos:exactMatch OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter semapv:UnspecifiedMatching +MONDO:0060627 skos:exactMatch OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 semapv:UnspecifiedMatching +MONDO:0060629 skos:exactMatch OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive semapv:UnspecifiedMatching +MONDO:0060631 skos:exactMatch OMIM:617822 alkuraya-kucinskas syndrome semapv:UnspecifiedMatching +MONDO:0060640 skos:exactMatch OMIM:617862 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:UnspecifiedMatching +MONDO:0060641 skos:exactMatch OMIM:617864 neurodevelopmental disorder with or without seizures and gait abnormalities semapv:UnspecifiedMatching +MONDO:0060642 skos:exactMatch OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features semapv:UnspecifiedMatching +MONDO:0060650 skos:exactMatch OMIM:617879 leber congenital amaurosis with early-onset deafness semapv:UnspecifiedMatching +MONDO:0060659 skos:exactMatch OMIM:617903 neurodevelopmental disorder with poor language and loss of hand skills semapv:UnspecifiedMatching +MONDO:0060662 skos:exactMatch OMIM:617911 diamond-blackfan anemia-like semapv:UnspecifiedMatching +MONDO:0060663 skos:exactMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:UnspecifiedMatching +MONDO:0060664 skos:exactMatch OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:UnspecifiedMatching +MONDO:0060666 skos:exactMatch OMIM:617915 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome semapv:UnspecifiedMatching +MONDO:0060670 skos:exactMatch OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 semapv:UnspecifiedMatching +MONDO:0060671 skos:exactMatch OMIM:617924 epilepsy, juvenile myoclonic, susceptibility to, 10 semapv:UnspecifiedMatching +MONDO:0060677 skos:exactMatch OMIM:617930 chromosome 1p35 deletion syndrome semapv:UnspecifiedMatching +MONDO:0060688 skos:exactMatch OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency semapv:UnspecifiedMatching +MONDO:0060690 skos:exactMatch OMIM:617955 phenytoin toxicity semapv:UnspecifiedMatching +MONDO:0060702 skos:exactMatch OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco iia semapv:UnspecifiedMatching +MONDO:0060704 skos:exactMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:UnspecifiedMatching +MONDO:0060707 skos:exactMatch OMIM:617982 ververi-brady syndrome semapv:UnspecifiedMatching +MONDO:0060711 skos:exactMatch OMIM:617988 jaberi-elahi syndrome semapv:UnspecifiedMatching +MONDO:0060713 skos:exactMatch OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon semapv:UnspecifiedMatching +MONDO:0060714 skos:exactMatch OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:UnspecifiedMatching +MONDO:0060715 skos:exactMatch OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:UnspecifiedMatching +MONDO:0060720 skos:exactMatch omim.ps:618005 Congenital disorder of glycosylation with defective fucosylation semapv:UnspecifiedMatching +MONDO:0060724 skos:exactMatch OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 semapv:UnspecifiedMatching +MONDO:0060729 skos:exactMatch OMIM:618015 protoporphyria, erythropoietic, 2 semapv:UnspecifiedMatching +MONDO:0060732 skos:exactMatch OMIM:618021 tetraamelia syndrome 2 semapv:UnspecifiedMatching +MONDO:0060733 skos:exactMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:UnspecifiedMatching +MONDO:0060745 skos:exactMatch OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0060752 skos:exactMatch OMIM:618076 neurodevelopmental disorder with spasticity and poor growth semapv:UnspecifiedMatching +MONDO:0060758 skos:exactMatch OMIM:618087 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits semapv:UnspecifiedMatching +MONDO:0060759 skos:exactMatch OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:UnspecifiedMatching +MONDO:0060760 skos:exactMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0060761 skos:exactMatch OMIM:618090 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum semapv:UnspecifiedMatching +MONDO:0060763 skos:exactMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:UnspecifiedMatching +MONDO:0060764 skos:exactMatch OMIM:273395 tetraamelia syndrome 1 semapv:UnspecifiedMatching +MONDO:0100003 skos:exactMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:UnspecifiedMatching +MONDO:0100042 skos:exactMatch OMIM:115080 cardiac conduction defect semapv:UnspecifiedMatching +MONDO:0100043 skos:exactMatch omim.ps:226400 Epidermodysplasia verruciformis, susceptibility to semapv:UnspecifiedMatching +MONDO:0100044 skos:exactMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:UnspecifiedMatching +MONDO:0100045 skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0100046 skos:exactMatch OMIM:177650 exfoliation syndrome semapv:UnspecifiedMatching +MONDO:0100048 skos:exactMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:UnspecifiedMatching +MONDO:0100058 skos:exactMatch OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia semapv:UnspecifiedMatching +MONDO:0100062 skos:exactMatch omim.ps:308350 Developmental and epileptic encephalopathy semapv:UnspecifiedMatching +MONDO:0100079 skos:exactMatch OMIM:607208 dravet syndrome semapv:UnspecifiedMatching +MONDO:0100082 skos:exactMatch OMIM:151100 leopard syndrome 1 semapv:UnspecifiedMatching +MONDO:0100083 skos:exactMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:UnspecifiedMatching +MONDO:0100092 skos:exactMatch OMIM:618364 myoclonus, familial, 2 semapv:UnspecifiedMatching +MONDO:0100093 skos:exactMatch OMIM:614937 myoclonus, familial, 1 semapv:UnspecifiedMatching +MONDO:0100095 skos:exactMatch OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures semapv:UnspecifiedMatching +MONDO:0100101 skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:UnspecifiedMatching +MONDO:0100102 skos:exactMatch OMIM:618388 fetal akinesia deformation sequence 2 semapv:UnspecifiedMatching +MONDO:0100103 skos:exactMatch OMIM:618389 fetal akinesia deformation sequence 3 semapv:UnspecifiedMatching +MONDO:0100104 skos:exactMatch OMIM:618393 fetal akinesia deformation sequence 4 semapv:UnspecifiedMatching +MONDO:0100105 skos:exactMatch OMIM:618360 brain small vessel disease 3 semapv:UnspecifiedMatching +MONDO:0100111 skos:exactMatch OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0100119 skos:exactMatch OMIM:618458 knobloch syndrome 2 semapv:UnspecifiedMatching +MONDO:0100129 skos:exactMatch OMIM:207790 arachnoid cysts, intracranial semapv:UnspecifiedMatching +MONDO:0100151 skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:UnspecifiedMatching +MONDO:0100156 skos:exactMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:UnspecifiedMatching +MONDO:0100157 skos:exactMatch OMIM:618882 imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching +MONDO:0100164 skos:exactMatch omim.ps:606176 Diabetes mellitus, permanent neonatal semapv:UnspecifiedMatching +MONDO:0100165 skos:exactMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:UnspecifiedMatching +MONDO:0100170 skos:exactMatch omim.ps:102300 Restless legs syndrome semapv:UnspecifiedMatching +MONDO:0100172 skos:exactMatch omim.ps:156200 Intellectual developmental disorder, autosomal dominant semapv:UnspecifiedMatching +MONDO:0100177 skos:exactMatch OMIM:607154 allergic rhinitis semapv:UnspecifiedMatching +MONDO:0100180 skos:exactMatch OMIM:612227 diabetes mellitus, ketosis-prone semapv:UnspecifiedMatching +MONDO:0100183 skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching +MONDO:0100186 skos:exactMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:UnspecifiedMatching +MONDO:0100210 skos:exactMatch omim.ps:245590 Growth hormone insensitivity syndrome with immune dysregulation semapv:UnspecifiedMatching +MONDO:0100211 skos:exactMatch OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive semapv:UnspecifiedMatching +MONDO:0100212 skos:exactMatch omim.ps:308205 IFAP syndrome semapv:UnspecifiedMatching +MONDO:0100213 skos:exactMatch OMIM:308205 ifap syndrome 1, with or without bresheck syndrome semapv:UnspecifiedMatching +MONDO:0100214 skos:exactMatch omim.ps:613658 Rajab interstitial lung disease with brain calcifications semapv:UnspecifiedMatching +MONDO:0100215 skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:UnspecifiedMatching +MONDO:0100217 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:UnspecifiedMatching +MONDO:0100218 skos:exactMatch OMIM:618947 arthrogryposis multiplex congenita 5 semapv:UnspecifiedMatching +MONDO:0100219 skos:exactMatch OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:UnspecifiedMatching +MONDO:0100220 skos:exactMatch OMIM:619013 rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching +MONDO:0100221 skos:exactMatch OMIM:619016 ifap syndrome 2 semapv:UnspecifiedMatching +MONDO:0100223 skos:exactMatch omim.ps:252010 Mitochondrial complex I deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0100224 skos:exactMatch OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 semapv:UnspecifiedMatching +MONDO:0100226 skos:exactMatch OMIM:613938 parasomnia, sleepwalking iia semapv:UnspecifiedMatching +MONDO:0100232 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:UnspecifiedMatching +MONDO:0100237 skos:exactMatch omim.ps:123700 Cutis laxa semapv:UnspecifiedMatching +MONDO:0100238 skos:exactMatch omim.ps:134600 Fanconi renotubular syndrome semapv:UnspecifiedMatching +MONDO:0100239 skos:exactMatch omim.ps:179010 Pyloric stenosis, infantile hypertrophic semapv:UnspecifiedMatching +MONDO:0100240 skos:exactMatch omim.ps:188050 Thrombophilia semapv:UnspecifiedMatching +MONDO:0100241 skos:exactMatch omim.ps:313900 Thrombocytopenia semapv:UnspecifiedMatching +MONDO:0100242 skos:exactMatch omim.ps:137800 Glioma semapv:UnspecifiedMatching +MONDO:0100244 skos:exactMatch omim.ps:300818 Paroxysmal nocturnal hemoglobinuria semapv:UnspecifiedMatching +MONDO:0100246 skos:exactMatch omim.ps:157300 Migraine with or without aura, susceptibility to semapv:UnspecifiedMatching +MONDO:0100247 skos:exactMatch omim.ps:614080 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:UnspecifiedMatching +MONDO:0100250 skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:UnspecifiedMatching +MONDO:0100252 skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:UnspecifiedMatching +MONDO:0100253 skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:UnspecifiedMatching +MONDO:0100255 skos:exactMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:UnspecifiedMatching +MONDO:0100280 skos:exactMatch omim.ps:153600 Macroglobulinemia, Waldenstrom semapv:UnspecifiedMatching +MONDO:0100281 skos:exactMatch OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0100285 skos:exactMatch OMIM:210500 biliary atresia, extrahepatic semapv:UnspecifiedMatching +MONDO:0100288 skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:UnspecifiedMatching +MONDO:0100292 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:UnspecifiedMatching +MONDO:0100294 skos:exactMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:UnspecifiedMatching +MONDO:0100295 skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:UnspecifiedMatching +MONDO:0100296 skos:exactMatch OMIM:614594 olmsted syndrome 1 semapv:UnspecifiedMatching +MONDO:0100297 skos:exactMatch OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:UnspecifiedMatching +MONDO:0100302 skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:UnspecifiedMatching +MONDO:0100303 skos:exactMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:UnspecifiedMatching +MONDO:0100316 skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:UnspecifiedMatching +MONDO:0100325 skos:exactMatch OMIM:184260 odontochondrodysplasia 1 semapv:UnspecifiedMatching +MONDO:0100326 skos:exactMatch omim.ps:273800 Glanzmann thrombasthenia semapv:UnspecifiedMatching +MONDO:0100327 skos:exactMatch omim.ps:607748 Hypercholanemia, familial semapv:UnspecifiedMatching +MONDO:0100328 skos:exactMatch omim.ps:614231 Microcephaly, epilepsy, and diabetes syndrome semapv:UnspecifiedMatching +MONDO:0100340 skos:exactMatch OMIM:229300 friedreich ataxia semapv:UnspecifiedMatching +MONDO:0100344 skos:exactMatch OMIM:601678 bartter syndrome, iia 1, antenatal semapv:UnspecifiedMatching +MONDO:0100348 skos:exactMatch OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities semapv:UnspecifiedMatching +MONDO:0100352 skos:exactMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:UnspecifiedMatching +MONDO:0100354 skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:UnspecifiedMatching +MONDO:0100428 skos:exactMatch OMIM:211500 fazio-londe disease semapv:UnspecifiedMatching +MONDO:0100433 skos:exactMatch OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay semapv:UnspecifiedMatching +MONDO:0100435 skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0100436 skos:exactMatch OMIM:604307 cataract 2, multiple types semapv:UnspecifiedMatching +MONDO:0100440 skos:exactMatch omim.ps:608638 Asperger syndrome, susceptibility to semapv:UnspecifiedMatching +MONDO:0100450 skos:exactMatch OMIM:193235 vitreoretinopathy, neovascular inflammatory semapv:UnspecifiedMatching +MONDO:0100457 skos:exactMatch OMIM:200400 achalasia, familial esophageal semapv:UnspecifiedMatching +MONDO:0100460 skos:exactMatch OMIM:188890 tobacco addiction, susceptibility to semapv:UnspecifiedMatching +MONDO:0100462 skos:exactMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:UnspecifiedMatching +MONDO:0100467 skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:UnspecifiedMatching +MONDO:0100468 skos:exactMatch OMIM:255300 batten-turner congenital myopathy semapv:UnspecifiedMatching +MONDO:0100469 skos:exactMatch OMIM:301700 anosmia, isolated congenital, X-linked semapv:UnspecifiedMatching +MONDO:0100476 skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:UnspecifiedMatching +MONDO:0100478 skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:UnspecifiedMatching +MONDO:0100486 skos:exactMatch OMIM:604324 acne, adult semapv:UnspecifiedMatching +MONDO:0100488 skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:UnspecifiedMatching +MONDO:0100489 skos:exactMatch OMIM:275000 graves disease semapv:UnspecifiedMatching +MONDO:0100490 skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:UnspecifiedMatching +MONDO:0100518 skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:UnspecifiedMatching +MONDO:0100519 skos:exactMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:UnspecifiedMatching +MONDO:0100522 skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:UnspecifiedMatching +MONDO:0100526 skos:exactMatch omim.ps:604370 Breast-ovarian cancer, familial, susceptibility to semapv:UnspecifiedMatching +MONDO:0100531 skos:exactMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:UnspecifiedMatching +MONDO:0100532 skos:exactMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:UnspecifiedMatching +MONDO:0100533 skos:exactMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:UnspecifiedMatching +MONDO:0200001 skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching +MONDO:0600024 skos:exactMatch OMIM:160750 myositis semapv:UnspecifiedMatching +MONDO:0700039 skos:exactMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:UnspecifiedMatching +MONDO:0700041 skos:exactMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0700060 skos:exactMatch OMIM:308960 leukemia, acute, X-linked semapv:UnspecifiedMatching +MONDO:0700077 skos:exactMatch OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 semapv:UnspecifiedMatching +MONDO:0700087 skos:exactMatch OMIM:276900 usher syndrome, iia 1 semapv:UnspecifiedMatching +MONDO:0700089 skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:UnspecifiedMatching +MONDO:0700090 skos:exactMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:UnspecifiedMatching +MONDO:0700107 skos:exactMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:UnspecifiedMatching +MONDO:0700112 skos:exactMatch OMIM:270100 heterotaxy, visceral, 5, autosomal semapv:UnspecifiedMatching +MONDO:0700225 skos:exactMatch omim.ps:600803 Gallbladder disease semapv:UnspecifiedMatching +MONDO:0800001 skos:exactMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:UnspecifiedMatching +MONDO:0800025 skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:UnspecifiedMatching +MONDO:0800026 skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:UnspecifiedMatching +MONDO:0800027 skos:exactMatch OMIM:221820 leukoencephalopathy, hereditary diffuse, with spheroids 1 semapv:UnspecifiedMatching +MONDO:0800028 skos:exactMatch OMIM:606703 dyskinesia with orofacial involvement, autosomal dominant semapv:UnspecifiedMatching +MONDO:0800029 skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:UnspecifiedMatching +MONDO:0800030 skos:exactMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:UnspecifiedMatching +MONDO:0800031 skos:exactMatch omim.ps:209880 Central hypoventilation syndrome, congenital semapv:UnspecifiedMatching +MONDO:0800042 skos:exactMatch OMIM:275210 restrictive dermopathy 1 semapv:UnspecifiedMatching +MONDO:0800043 skos:exactMatch OMIM:601559 stuve-wiedemann syndrome 1 semapv:UnspecifiedMatching +MONDO:0800044 skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:UnspecifiedMatching +MONDO:0800045 skos:exactMatch OMIM:616744 autoinflammatory syndrome, familial, behcet-like 1 semapv:UnspecifiedMatching +MONDO:0800046 skos:exactMatch OMIM:609698 thyroid hormone metabolism, abnormal, 1 semapv:UnspecifiedMatching +MONDO:0800047 skos:exactMatch OMIM:613112 macrothrombocytopenia, isolated, 1, autosomal dominant semapv:UnspecifiedMatching +MONDO:0800103 skos:exactMatch OMIM:216360 coach syndrome 1 semapv:UnspecifiedMatching +MONDO:0800104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:UnspecifiedMatching +MONDO:0800129 skos:exactMatch OMIM:301081 autoinflammatory disease, systemic, X-linked semapv:UnspecifiedMatching +MONDO:0800130 skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching +MONDO:0800131 skos:exactMatch OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching +MONDO:0800132 skos:exactMatch OMIM:619858 autoinflammatory-pancytopenia syndrome semapv:UnspecifiedMatching +MONDO:0800166 skos:exactMatch omim.ps:267750 Knobloch syndrome semapv:UnspecifiedMatching +MONDO:0800167 skos:exactMatch OMIM:267750 knobloch syndrome 1 semapv:UnspecifiedMatching +MONDO:0800187 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:UnspecifiedMatching +MONDO:0800188 skos:exactMatch omim.ps:145600 Malignant hyperthermia semapv:UnspecifiedMatching +MONDO:0800341 skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0800436 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:UnspecifiedMatching +MONDO:0800437 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching +MONDO:0800438 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:UnspecifiedMatching +MONDO:0800444 skos:exactMatch omim.ps:135150 Birt-Hogg-Dube syndrome semapv:UnspecifiedMatching +MONDO:0800445 skos:exactMatch OMIM:135150 birt-hogg-dube syndrome 1 semapv:UnspecifiedMatching +MONDO:0800447 skos:exactMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:UnspecifiedMatching +MONDO:0800448 skos:exactMatch omim.ps:603896 Leukoencephalopathy with vanishing white matter semapv:UnspecifiedMatching +MONDO:0800449 skos:exactMatch omim.ps:278000 Lysosomal acid lipase deficiency semapv:UnspecifiedMatching +MONDO:0800450 skos:exactMatch omim.ps:616033 Microcephaly, short stature, and impaired glucose metabolism semapv:UnspecifiedMatching +MONDO:0800451 skos:exactMatch omim.ps:604498 Amegakaryocytic thrombocytopenia, congenital semapv:UnspecifiedMatching +MONDO:0800452 skos:exactMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital, 1 semapv:UnspecifiedMatching +MONDO:0800455 skos:exactMatch OMIM:620459 birt-hogg-dube syndrome 2 semapv:UnspecifiedMatching +MONDO:0850514 skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:UnspecifiedMatching +MONDO:0851095 skos:exactMatch OMIM:619297 kinsship syndrome semapv:UnspecifiedMatching +MONDO:0859046 skos:exactMatch OMIM:180295 rhabdomyosarcoma, embryonal, 2 semapv:UnspecifiedMatching +MONDO:0859050 skos:exactMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:UnspecifiedMatching +MONDO:0859080 skos:exactMatch OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:UnspecifiedMatching +MONDO:0859081 skos:exactMatch OMIM:301069 chromosome xq13 duplication syndrome semapv:UnspecifiedMatching +MONDO:0859082 skos:exactMatch OMIM:301071 thrombophilia, x-linked, due to factor 8 defect semapv:UnspecifiedMatching +MONDO:0859083 skos:exactMatch OMIM:301080 systemic lupus erythematosus 17 semapv:UnspecifiedMatching +MONDO:0859085 skos:exactMatch OMIM:301094 hijazi-reis syndrome semapv:UnspecifiedMatching +MONDO:0859086 skos:exactMatch OMIM:301095 intellectual developmental disorder, X-linked 110 semapv:UnspecifiedMatching +MONDO:0859136 skos:exactMatch OMIM:619268 alzahrani-kuwahara syndrome semapv:UnspecifiedMatching +MONDO:0859137 skos:exactMatch OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0859139 skos:exactMatch OMIM:619293 blepharophimosis-impaired intellectual development syndrome semapv:UnspecifiedMatching +MONDO:0859141 skos:exactMatch OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0859142 skos:exactMatch OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859143 skos:exactMatch OMIM:619312 radio-tartaglia syndrome semapv:UnspecifiedMatching +MONDO:0859144 skos:exactMatch OMIM:619314 buratti-harel syndrome semapv:UnspecifiedMatching +MONDO:0859146 skos:exactMatch OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies semapv:UnspecifiedMatching +MONDO:0859147 skos:exactMatch OMIM:619322 marbach-rustad progeroid syndrome semapv:UnspecifiedMatching +MONDO:0859148 skos:exactMatch OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth semapv:UnspecifiedMatching +MONDO:0859149 skos:exactMatch OMIM:619324 hypertriglyceridemia 2 semapv:UnspecifiedMatching +MONDO:0859150 skos:exactMatch OMIM:619326 bdv syndrome semapv:UnspecifiedMatching +MONDO:0859151 skos:exactMatch OMIM:619329 fibromuscular dysplasia, multifocal semapv:UnspecifiedMatching +MONDO:0859152 skos:exactMatch OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:UnspecifiedMatching +MONDO:0859154 skos:exactMatch OMIM:619339 bartsocas-papas syndrome 2 semapv:UnspecifiedMatching +MONDO:0859155 skos:exactMatch OMIM:619343 chromosome 1p36 deletion syndrome, proximal semapv:UnspecifiedMatching +MONDO:0859156 skos:exactMatch OMIM:619345 dysostosis multiplex, ain-naz iia semapv:UnspecifiedMatching +MONDO:0859157 skos:exactMatch OMIM:619350 visceral myopathy 2 semapv:UnspecifiedMatching +MONDO:0859158 skos:exactMatch OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset semapv:UnspecifiedMatching +MONDO:0859159 skos:exactMatch OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy semapv:UnspecifiedMatching +MONDO:0859160 skos:exactMatch OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 semapv:UnspecifiedMatching +MONDO:0859161 skos:exactMatch OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:UnspecifiedMatching +MONDO:0859162 skos:exactMatch OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms semapv:UnspecifiedMatching +MONDO:0859163 skos:exactMatch OMIM:619376 faundes-banka syndrome semapv:UnspecifiedMatching +MONDO:0859164 skos:exactMatch OMIM:619377 osteootohepatoenteric syndrome semapv:UnspecifiedMatching +MONDO:0859165 skos:exactMatch OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859166 skos:exactMatch OMIM:619400 visceral leiomyopathy, african degenerative semapv:UnspecifiedMatching +MONDO:0859167 skos:exactMatch OMIM:619406 hypokalemic tubulopathy and deafness semapv:UnspecifiedMatching +MONDO:0859168 skos:exactMatch OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy semapv:UnspecifiedMatching +MONDO:0859169 skos:exactMatch OMIM:619426 white-kernohan syndrome semapv:UnspecifiedMatching +MONDO:0859170 skos:exactMatch OMIM:619446 retinal dystrophy and microvillus inclusion disease semapv:UnspecifiedMatching +MONDO:0859171 skos:exactMatch OMIM:619460 luo-schoch-yamamoto syndrome semapv:UnspecifiedMatching +MONDO:0859172 skos:exactMatch OMIM:619462 hemolytic disease of fetus and newborn, rh-induced semapv:UnspecifiedMatching +MONDO:0859173 skos:exactMatch OMIM:619464 sick sinus syndrome 4 semapv:UnspecifiedMatching +MONDO:0859174 skos:exactMatch OMIM:619467 usmani-riazuddin syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859175 skos:exactMatch OMIM:619468 nephronophthisis-like nephropathy 2 semapv:UnspecifiedMatching +MONDO:0859176 skos:exactMatch OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859177 skos:exactMatch OMIM:619472 viss syndrome semapv:UnspecifiedMatching +MONDO:0859178 skos:exactMatch OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859179 skos:exactMatch OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:UnspecifiedMatching +MONDO:0859180 skos:exactMatch OMIM:619481 bile acid malabsorption, primary, 2 semapv:UnspecifiedMatching +MONDO:0859181 skos:exactMatch OMIM:619488 degcags syndrome semapv:UnspecifiedMatching +MONDO:0859182 skos:exactMatch OMIM:619489 short stature, dauber-argente iia semapv:UnspecifiedMatching +MONDO:0859183 skos:exactMatch OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0859184 skos:exactMatch OMIM:619501 ventriculomegaly and arthrogryposis semapv:UnspecifiedMatching +MONDO:0859185 skos:exactMatch OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859186 skos:exactMatch OMIM:619504 chopra-amiel-gordon syndrome semapv:UnspecifiedMatching +MONDO:0859187 skos:exactMatch OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859188 skos:exactMatch OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859189 skos:exactMatch OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome semapv:UnspecifiedMatching +MONDO:0859190 skos:exactMatch OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities semapv:UnspecifiedMatching +MONDO:0859191 skos:exactMatch OMIM:619534 biliary, renal, neurologic, and skeletal syndrome semapv:UnspecifiedMatching +MONDO:0859192 skos:exactMatch OMIM:619538 cerebral cavernous malformations 4 semapv:UnspecifiedMatching +MONDO:0859193 skos:exactMatch OMIM:619539 neuroocular syndrome semapv:UnspecifiedMatching +MONDO:0859194 skos:exactMatch OMIM:619543 boudin-mortier syndrome semapv:UnspecifiedMatching +MONDO:0859196 skos:exactMatch OMIM:619548 usmani-riazuddin syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859197 skos:exactMatch OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859198 skos:exactMatch OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies semapv:UnspecifiedMatching +MONDO:0859199 skos:exactMatch OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859200 skos:exactMatch OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects semapv:UnspecifiedMatching +MONDO:0859201 skos:exactMatch OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures semapv:UnspecifiedMatching +MONDO:0859202 skos:exactMatch OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859203 skos:exactMatch OMIM:619598 rhizomelic dysplasia, ain-naz iia semapv:UnspecifiedMatching +MONDO:0859204 skos:exactMatch OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859205 skos:exactMatch OMIM:619613 delayed puberty, self-limited semapv:UnspecifiedMatching +MONDO:0859206 skos:exactMatch OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity semapv:UnspecifiedMatching +MONDO:0859207 skos:exactMatch OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay semapv:UnspecifiedMatching +MONDO:0859208 skos:exactMatch OMIM:619641 hengel-maroofian-schols syndrome semapv:UnspecifiedMatching +MONDO:0859209 skos:exactMatch OMIM:619648 zaki syndrome semapv:UnspecifiedMatching +MONDO:0859210 skos:exactMatch OMIM:619649 chromosome 16q12 duplication syndrome semapv:UnspecifiedMatching +MONDO:0859211 skos:exactMatch OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia semapv:UnspecifiedMatching +MONDO:0859212 skos:exactMatch OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus semapv:UnspecifiedMatching +MONDO:0859213 skos:exactMatch OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy semapv:UnspecifiedMatching +MONDO:0859214 skos:exactMatch OMIM:619680 marbach-schaaf neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859215 skos:exactMatch OMIM:619681 dystonia, early-onset, and/or spastic paraplegia semapv:UnspecifiedMatching +MONDO:0859216 skos:exactMatch OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis semapv:UnspecifiedMatching +MONDO:0859217 skos:exactMatch OMIM:619690 brunet-wagner neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859218 skos:exactMatch OMIM:619694 developmental delay with variable neurologic and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859219 skos:exactMatch OMIM:619695 rauch-steindl syndrome semapv:UnspecifiedMatching +MONDO:0859220 skos:exactMatch OMIM:619699 ferguson-bonni neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859221 skos:exactMatch OMIM:619701 yoon-bellen neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859222 skos:exactMatch OMIM:619702 heterotaxy, visceral, 12, autosomal semapv:UnspecifiedMatching +MONDO:0859223 skos:exactMatch OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859224 skos:exactMatch OMIM:619719 intellectual disability and myopathy syndrome semapv:UnspecifiedMatching +MONDO:0859225 skos:exactMatch OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859226 skos:exactMatch OMIM:619727 craniotubular dysplasia, ikegawa iia semapv:UnspecifiedMatching +MONDO:0859228 skos:exactMatch OMIM:619743 combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching +MONDO:0859229 skos:exactMatch OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0859230 skos:exactMatch OMIM:619762 kury-isidor syndrome semapv:UnspecifiedMatching +MONDO:0859231 skos:exactMatch OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin semapv:UnspecifiedMatching +MONDO:0859232 skos:exactMatch OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859233 skos:exactMatch OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia semapv:UnspecifiedMatching +MONDO:0859234 skos:exactMatch OMIM:619824 agammaglobulinemia 8b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859235 skos:exactMatch OMIM:619832 auditory neuropathy, autosomal dominant 3 semapv:UnspecifiedMatching +MONDO:0859236 skos:exactMatch OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0859237 skos:exactMatch OMIM:619835 3-methylglutaconic aciduria, iia 7a semapv:UnspecifiedMatching +MONDO:0859238 skos:exactMatch OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate semapv:UnspecifiedMatching +MONDO:0859239 skos:exactMatch OMIM:619841 chilton-okur-chung neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859240 skos:exactMatch OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0859241 skos:exactMatch OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly semapv:UnspecifiedMatching +MONDO:0859242 skos:exactMatch OMIM:619851 leukodystrophy, hypomyelinating, 24 semapv:UnspecifiedMatching +MONDO:0859243 skos:exactMatch OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859244 skos:exactMatch OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency semapv:UnspecifiedMatching +MONDO:0859245 skos:exactMatch OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 semapv:UnspecifiedMatching +MONDO:0859246 skos:exactMatch OMIM:619864 leukodystrophy, childhood-onset, remitting semapv:UnspecifiedMatching +MONDO:0859247 skos:exactMatch OMIM:619869 neurocardiofaciodigital syndrome semapv:UnspecifiedMatching +MONDO:0859248 skos:exactMatch OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet semapv:UnspecifiedMatching +MONDO:0859249 skos:exactMatch OMIM:619873 parenti-mignot neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859250 skos:exactMatch OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures semapv:UnspecifiedMatching +MONDO:0859251 skos:exactMatch OMIM:619877 dentici-novelli neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859252 skos:exactMatch OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies semapv:UnspecifiedMatching +MONDO:0859253 skos:exactMatch OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay semapv:UnspecifiedMatching +MONDO:0859254 skos:exactMatch OMIM:619902 hepatorenocardiac degenerative fibrosis semapv:UnspecifiedMatching +MONDO:0859255 skos:exactMatch OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive semapv:UnspecifiedMatching +MONDO:0859256 skos:exactMatch OMIM:619908 neurodevelopmental disorder with language delay and seizures semapv:UnspecifiedMatching +MONDO:0859257 skos:exactMatch OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism semapv:UnspecifiedMatching +MONDO:0859258 skos:exactMatch OMIM:619922 neurodevelopmental disorder with dystonia and seizures semapv:UnspecifiedMatching +MONDO:0859260 skos:exactMatch OMIM:619955 dworschak-punetha neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859261 skos:exactMatch OMIM:619957 attention deficit-hyperactivity disorder 8 semapv:UnspecifiedMatching +MONDO:0859262 skos:exactMatch OMIM:619959 acces syndrome semapv:UnspecifiedMatching +MONDO:0859263 skos:exactMatch OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching +MONDO:0859264 skos:exactMatch OMIM:619967 congenital myopathy 11 semapv:UnspecifiedMatching +MONDO:0859265 skos:exactMatch OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy semapv:UnspecifiedMatching +MONDO:0859266 skos:exactMatch OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy semapv:UnspecifiedMatching +MONDO:0859267 skos:exactMatch OMIM:619975 tumor predisposition syndrome 2 semapv:UnspecifiedMatching +MONDO:0859271 skos:exactMatch OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 semapv:UnspecifiedMatching +MONDO:0859272 skos:exactMatch OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies semapv:UnspecifiedMatching +MONDO:0859273 skos:exactMatch OMIM:619991 liver disease, severe congenital semapv:UnspecifiedMatching +MONDO:0859274 skos:exactMatch OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies semapv:UnspecifiedMatching +MONDO:0859275 skos:exactMatch OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859276 skos:exactMatch OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome semapv:UnspecifiedMatching +MONDO:0859277 skos:exactMatch OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects semapv:UnspecifiedMatching +MONDO:0859278 skos:exactMatch OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859279 skos:exactMatch OMIM:620011 neuronopathy, distal hereditary motor, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0859280 skos:exactMatch OMIM:620012 developmental delay, hypotonia, and impaired language semapv:UnspecifiedMatching +MONDO:0859281 skos:exactMatch OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859282 skos:exactMatch OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures semapv:UnspecifiedMatching +MONDO:0859283 skos:exactMatch OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859285 skos:exactMatch OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay semapv:UnspecifiedMatching +MONDO:0859286 skos:exactMatch OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:UnspecifiedMatching +MONDO:0859287 skos:exactMatch OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language semapv:UnspecifiedMatching +MONDO:0859288 skos:exactMatch OMIM:620044 bone marrow failure and diabetes mellitus syndrome semapv:UnspecifiedMatching +MONDO:0859289 skos:exactMatch OMIM:620045 intestinal dysmotility syndrome semapv:UnspecifiedMatching +MONDO:0859290 skos:exactMatch OMIM:620058 familial apolipoprotein gene cluster deletion syndrome semapv:UnspecifiedMatching +MONDO:0859292 skos:exactMatch OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders semapv:UnspecifiedMatching +MONDO:0859293 skos:exactMatch OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment semapv:UnspecifiedMatching +MONDO:0859295 skos:exactMatch OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:UnspecifiedMatching +MONDO:0859296 skos:exactMatch OMIM:620071 birk-aharoni syndrome semapv:UnspecifiedMatching +MONDO:0859297 skos:exactMatch OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859298 skos:exactMatch OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly semapv:UnspecifiedMatching +MONDO:0859300 skos:exactMatch OMIM:620080 neuronopathy, distal hereditary motor, autosomal dominant 10 semapv:UnspecifiedMatching +MONDO:0859301 skos:exactMatch OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects semapv:UnspecifiedMatching +MONDO:0859302 skos:exactMatch OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 semapv:UnspecifiedMatching +MONDO:0859303 skos:exactMatch OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:UnspecifiedMatching +MONDO:0859304 skos:exactMatch OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction semapv:UnspecifiedMatching +MONDO:0859305 skos:exactMatch OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:UnspecifiedMatching +MONDO:0859306 skos:exactMatch OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859307 skos:exactMatch OMIM:620099 cleidocranial dysplasia 2 semapv:UnspecifiedMatching +MONDO:0859308 skos:exactMatch OMIM:620102 retinitis pigmentosa 95 semapv:UnspecifiedMatching +MONDO:0859309 skos:exactMatch OMIM:620106 spastic paraplegia 88, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859310 skos:exactMatch OMIM:620107 orofaciodigital syndrome 19 semapv:UnspecifiedMatching +MONDO:0859311 skos:exactMatch OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j semapv:UnspecifiedMatching +MONDO:0859312 skos:exactMatch OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities semapv:UnspecifiedMatching +MONDO:0859313 skos:exactMatch OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures semapv:UnspecifiedMatching +MONDO:0859314 skos:exactMatch OMIM:620115 developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching +MONDO:0859316 skos:exactMatch OMIM:620121 iron overload, susceptibility to semapv:UnspecifiedMatching +MONDO:0859317 skos:exactMatch OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859318 skos:exactMatch OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859319 skos:exactMatch OMIM:620133 dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0859320 skos:exactMatch OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 semapv:UnspecifiedMatching +MONDO:0859321 skos:exactMatch OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 semapv:UnspecifiedMatching +MONDO:0859322 skos:exactMatch OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis semapv:UnspecifiedMatching +MONDO:0859323 skos:exactMatch OMIM:620139 combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching +MONDO:0859324 skos:exactMatch OMIM:620141 developmental delay, language impairment, and ocular abnormalities semapv:UnspecifiedMatching +MONDO:0859325 skos:exactMatch OMIM:620145 developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching +MONDO:0859327 skos:exactMatch OMIM:620149 developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching +MONDO:0859328 skos:exactMatch OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0859329 skos:exactMatch OMIM:620153 mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching +MONDO:0859330 skos:exactMatch OMIM:620154 oocyte/zygote/embryo maturation arrest 13 semapv:UnspecifiedMatching +MONDO:0859331 skos:exactMatch OMIM:620155 rabin-pappas syndrome semapv:UnspecifiedMatching +MONDO:0859332 skos:exactMatch OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 semapv:UnspecifiedMatching +MONDO:0859333 skos:exactMatch OMIM:620157 intellectual developmental disorder, autosomal dominant 70 semapv:UnspecifiedMatching +MONDO:0859334 skos:exactMatch OMIM:620158 spinocerebellar ataxia 50 semapv:UnspecifiedMatching +MONDO:0859335 skos:exactMatch OMIM:620161 congenital myopathy 15 semapv:UnspecifiedMatching +MONDO:0859336 skos:exactMatch OMIM:620166 muscular dystrophy, congenital, with or without seizures semapv:UnspecifiedMatching +MONDO:0859337 skos:exactMatch OMIM:620167 combined oxidative phosphorylation deficiency 57 semapv:UnspecifiedMatching +MONDO:0859338 skos:exactMatch OMIM:620170 spermatogenic failure 78 semapv:UnspecifiedMatching +MONDO:0859339 skos:exactMatch OMIM:620173 tooth agenesis, selective, 10 semapv:UnspecifiedMatching +MONDO:0859340 skos:exactMatch OMIM:620174 spinocerebellar ataxia 27b, late-onset semapv:UnspecifiedMatching +MONDO:0859341 skos:exactMatch OMIM:620177 hypotrichosis 15 semapv:UnspecifiedMatching +MONDO:0859342 skos:exactMatch OMIM:620183 microcephaly 30, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859345 skos:exactMatch OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome semapv:UnspecifiedMatching +MONDO:0859346 skos:exactMatch OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching +MONDO:0859347 skos:exactMatch OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities semapv:UnspecifiedMatching +MONDO:0859350 skos:exactMatch OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859351 skos:exactMatch OMIM:620195 obesity and hypopigmentation semapv:UnspecifiedMatching +MONDO:0859352 skos:exactMatch OMIM:620196 spermatogenic failure 79 semapv:UnspecifiedMatching +MONDO:0859353 skos:exactMatch OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus semapv:UnspecifiedMatching +MONDO:0859354 skos:exactMatch OMIM:620198 thyroid hormone metabolism, abnormal, 3 semapv:UnspecifiedMatching +MONDO:0859355 skos:exactMatch OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:UnspecifiedMatching +MONDO:0859356 skos:exactMatch OMIM:620200 congenital disorder of glycosylation, iia iiy semapv:UnspecifiedMatching +MONDO:0859357 skos:exactMatch OMIM:620201 congenital disorder of glycosylation, iia iiz semapv:UnspecifiedMatching +MONDO:0859358 skos:exactMatch OMIM:620203 cardiomyopathy, dilated, 2h semapv:UnspecifiedMatching +MONDO:0859360 skos:exactMatch OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 semapv:UnspecifiedMatching +MONDO:0859361 skos:exactMatch OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia semapv:UnspecifiedMatching +MONDO:0859362 skos:exactMatch OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 semapv:UnspecifiedMatching +MONDO:0859363 skos:exactMatch OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia semapv:UnspecifiedMatching +MONDO:0859364 skos:exactMatch OMIM:620222 spermatogenic failure 80 semapv:UnspecifiedMatching +MONDO:0859365 skos:exactMatch OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures semapv:UnspecifiedMatching +MONDO:0859366 skos:exactMatch OMIM:620227 deafness, autosomal dominant 85 semapv:UnspecifiedMatching +MONDO:0859367 skos:exactMatch OMIM:620228 retinitis pigmentosa 96 semapv:UnspecifiedMatching +MONDO:0859368 skos:exactMatch OMIM:620231 short qt syndrome 7 semapv:UnspecifiedMatching +MONDO:0859369 skos:exactMatch OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma semapv:UnspecifiedMatching +MONDO:0859370 skos:exactMatch OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea semapv:UnspecifiedMatching +MONDO:0859371 skos:exactMatch OMIM:620235 rhabdomyolysis, susceptibility to, 1 semapv:UnspecifiedMatching +MONDO:0859372 skos:exactMatch OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:UnspecifiedMatching +MONDO:0859373 skos:exactMatch OMIM:620237 intellectual developmental disorder, autosomal recessive 78 semapv:UnspecifiedMatching +MONDO:0859374 skos:exactMatch OMIM:620238 deafness, autosomal recessive 120 semapv:UnspecifiedMatching +MONDO:0859375 skos:exactMatch OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859376 skos:exactMatch OMIM:620241 hydrocephalus, congenital, 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0859377 skos:exactMatch OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859378 skos:exactMatch OMIM:620243 leukodystrophy, hypomyelinating, 25 semapv:UnspecifiedMatching +MONDO:0859379 skos:exactMatch OMIM:620244 lymphatic malformation 13 semapv:UnspecifiedMatching +MONDO:0859380 skos:exactMatch OMIM:620245 episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching +MONDO:0859381 skos:exactMatch OMIM:620247 cardiomyopathy, dilated, 1oo semapv:UnspecifiedMatching +MONDO:0859382 skos:exactMatch OMIM:620253 cataract 50 with or without glaucoma semapv:UnspecifiedMatching +MONDO:0859383 skos:exactMatch omim.ps:146590 Ichthyosis hystrix semapv:UnspecifiedMatching +MONDO:0859390 skos:exactMatch omim.ps:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features semapv:UnspecifiedMatching +MONDO:0859393 skos:exactMatch omim.ps:620184 Atelis syndrome semapv:UnspecifiedMatching +MONDO:0859477 skos:exactMatch OMIM:301099 spermatogenic failure, x-linked, 5 semapv:UnspecifiedMatching +MONDO:0859478 skos:exactMatch OMIM:301101 spermatogenic failure, x-linked, 6 semapv:UnspecifiedMatching +MONDO:0859514 skos:exactMatch OMIM:620246 congenital myopathy 18 semapv:UnspecifiedMatching +MONDO:0859515 skos:exactMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:UnspecifiedMatching +MONDO:0859516 skos:exactMatch OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum semapv:UnspecifiedMatching +MONDO:0859517 skos:exactMatch OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859518 skos:exactMatch OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia semapv:UnspecifiedMatching +MONDO:0859519 skos:exactMatch OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859520 skos:exactMatch OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 semapv:UnspecifiedMatching +MONDO:0859521 skos:exactMatch OMIM:620276 oocyte/zygote/embryo maturation arrest 14 semapv:UnspecifiedMatching +MONDO:0859522 skos:exactMatch OMIM:620277 spermatogenic failure 81 semapv:UnspecifiedMatching +MONDO:0859523 skos:exactMatch OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859524 skos:exactMatch OMIM:620280 deafness, autosomal dominant 86 semapv:UnspecifiedMatching +MONDO:0859525 skos:exactMatch OMIM:620281 deafness, autosomal dominant 87 semapv:UnspecifiedMatching +MONDO:0859526 skos:exactMatch OMIM:620282 immunodeficiency 109 with lymphoproliferation semapv:UnspecifiedMatching +MONDO:0859527 skos:exactMatch OMIM:620283 deafness, autosomal dominant 88 semapv:UnspecifiedMatching +MONDO:0859528 skos:exactMatch OMIM:620284 deafness, autosomal dominant 89 semapv:UnspecifiedMatching +MONDO:0859529 skos:exactMatch OMIM:620285 amyotrophic lateral sclerosis 27, juvenile semapv:UnspecifiedMatching +MONDO:0859530 skos:exactMatch OMIM:620286 myopathy, sarcoplasmic body semapv:UnspecifiedMatching +MONDO:0859531 skos:exactMatch OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching +MONDO:0859532 skos:exactMatch OMIM:620294 congenital heart defects, multiple types, 9 semapv:UnspecifiedMatching +MONDO:0859564 skos:exactMatch OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features semapv:UnspecifiedMatching +MONDO:0859565 skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:UnspecifiedMatching +MONDO:0859567 skos:exactMatch OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 semapv:UnspecifiedMatching +MONDO:0859568 skos:exactMatch OMIM:619977 macular dystrophy, retinal, 4 semapv:UnspecifiedMatching +MONDO:0859569 skos:exactMatch OMIM:619980 braddock-carey syndrome 1 semapv:UnspecifiedMatching +MONDO:0859570 skos:exactMatch OMIM:619981 braddock-carey syndrome 2 semapv:UnspecifiedMatching +MONDO:0859571 skos:exactMatch OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects semapv:UnspecifiedMatching +MONDO:0859572 skos:exactMatch OMIM:620067 cardiac valvular dysplasia 2 semapv:UnspecifiedMatching +MONDO:0859573 skos:exactMatch OMIM:620076 bent bone dysplasia syndrome 2 semapv:UnspecifiedMatching +MONDO:0859574 skos:exactMatch OMIM:620148 ichthyosis, annular epidermolytic, 2 semapv:UnspecifiedMatching +MONDO:0859575 skos:exactMatch OMIM:620184 atelis syndrome 1 semapv:UnspecifiedMatching +MONDO:0859576 skos:exactMatch OMIM:620185 atelis syndrome 2 semapv:UnspecifiedMatching +MONDO:0859577 skos:exactMatch OMIM:620192 lacrimoauriculodentodigital syndrome 2 semapv:UnspecifiedMatching +MONDO:0859578 skos:exactMatch OMIM:620193 lacrimoauriculodentodigital syndrome 3 semapv:UnspecifiedMatching +MONDO:0957097 skos:exactMatch omim.ps:235400 Hemolytic uremic syndrome semapv:UnspecifiedMatching +MONDO:0957202 skos:exactMatch OMIM:301106 spermatogenic failure, x-linked, 7 semapv:UnspecifiedMatching +MONDO:0957203 skos:exactMatch OMIM:301107 intellectual developmental disorder, X-linked 111 semapv:UnspecifiedMatching +MONDO:0957204 skos:exactMatch OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis semapv:UnspecifiedMatching +MONDO:0957208 skos:exactMatch OMIM:620303 pituitary hormone deficiency, combined or isolated, 8 semapv:UnspecifiedMatching +MONDO:0957210 skos:exactMatch OMIM:620305 neurooculorenal syndrome semapv:UnspecifiedMatching +MONDO:0957211 skos:exactMatch OMIM:620306 neurodegeneration and seizures due to copper transport defect semapv:UnspecifiedMatching +MONDO:0957215 skos:exactMatch OMIM:620310 congenital myopathy 20 semapv:UnspecifiedMatching +MONDO:0957216 skos:exactMatch OMIM:620311 premature ovarian failure 21 semapv:UnspecifiedMatching +MONDO:0957217 skos:exactMatch OMIM:620316 cortical dysplasia, complex, with other brain malformations 12 semapv:UnspecifiedMatching +MONDO:0957218 skos:exactMatch OMIM:620317 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities semapv:UnspecifiedMatching +MONDO:0957220 skos:exactMatch OMIM:620319 oocyte/zygote/embryo maturation arrest 17 semapv:UnspecifiedMatching +MONDO:0957221 skos:exactMatch OMIM:620323 spastic paraplegia 70, autosomal recessive semapv:UnspecifiedMatching +MONDO:0957224 skos:exactMatch OMIM:620326 congenital myopathy 21 with early respiratory failure semapv:UnspecifiedMatching +MONDO:0957225 skos:exactMatch OMIM:620327 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0957228 skos:exactMatch OMIM:620330 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0957229 skos:exactMatch OMIM:620331 hatipoglu immunodeficiency syndrome semapv:UnspecifiedMatching +MONDO:0957230 skos:exactMatch OMIM:620332 oocyte/zygote/embryo maturation arrest 18 semapv:UnspecifiedMatching +MONDO:0957231 skos:exactMatch OMIM:620333 oocyte/zygote/embryo maturation arrest 19 semapv:UnspecifiedMatching +MONDO:0957240 skos:exactMatch OMIM:620342 cone-rod dystrophy 24 semapv:UnspecifiedMatching +MONDO:0957247 skos:exactMatch OMIM:620351 congenital myopathy 22a, classic semapv:UnspecifiedMatching +MONDO:0957248 skos:exactMatch OMIM:620352 developmental and epileptic encephalopathy 31b semapv:UnspecifiedMatching +MONDO:0957249 skos:exactMatch OMIM:620353 spermatogenic failure 82 semapv:UnspecifiedMatching +MONDO:0957250 skos:exactMatch OMIM:620354 spermatogenic failure 83 semapv:UnspecifiedMatching +MONDO:0957252 skos:exactMatch OMIM:620356 ciliary dyskinesia, primary, 50 semapv:UnspecifiedMatching +MONDO:0957253 skos:exactMatch OMIM:620357 diarrhea 13 semapv:UnspecifiedMatching +MONDO:0957254 skos:exactMatch OMIM:620358 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4a semapv:UnspecifiedMatching +MONDO:0957255 skos:exactMatch OMIM:620359 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 7 semapv:UnspecifiedMatching +MONDO:0957260 skos:exactMatch OMIM:620364 combined low ldl and fibrinogen semapv:UnspecifiedMatching +MONDO:0957261 skos:exactMatch OMIM:620365 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 semapv:UnspecifiedMatching +MONDO:0957262 skos:exactMatch OMIM:620366 osteopetrosis, autosomal recessive 9 semapv:UnspecifiedMatching +MONDO:0957263 skos:exactMatch OMIM:620367 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 semapv:UnspecifiedMatching +MONDO:0957264 skos:exactMatch OMIM:620368 cerebroretinal microangiopathy with calcifications and cysts 3 semapv:UnspecifiedMatching +MONDO:0957265 skos:exactMatch OMIM:620369 congenital myopathy 22b, severe fetal semapv:UnspecifiedMatching +MONDO:0957266 skos:exactMatch OMIM:620370 recon progeroid syndrome semapv:UnspecifiedMatching +MONDO:0957267 skos:exactMatch OMIM:620371 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity semapv:UnspecifiedMatching +MONDO:0957268 skos:exactMatch OMIM:620372 hypersulfaturia semapv:UnspecifiedMatching +MONDO:0957270 skos:exactMatch OMIM:620375 muscular dystrophy, limb-girdle, autosomal recessive 28 semapv:UnspecifiedMatching +MONDO:0957271 skos:exactMatch OMIM:620376 autoinflammatory disease, systemic, with vasculitis semapv:UnspecifiedMatching +MONDO:0957273 skos:exactMatch OMIM:620378 charcot-marie-tooth disease, dominant intermediate a semapv:UnspecifiedMatching +MONDO:0957274 skos:exactMatch OMIM:620379 spastic paraplegia 89, autosomal recessive semapv:UnspecifiedMatching +MONDO:0957278 skos:exactMatch OMIM:620383 oocyte/zygote/embryo maturation arrest 20 semapv:UnspecifiedMatching +MONDO:0957279 skos:exactMatch OMIM:620384 auditory neuropathy, autosomal dominant 2 semapv:UnspecifiedMatching +MONDO:0957281 skos:exactMatch OMIM:620386 nemaline myopathy 5b, autosomal recessive, childhood-onset semapv:UnspecifiedMatching +MONDO:0957284 skos:exactMatch OMIM:620389 nemaline myopathy 5c, autosomal dominant semapv:UnspecifiedMatching +MONDO:0957288 skos:exactMatch OMIM:620393 intellectual developmental disorder, autosomal recessive 79 semapv:UnspecifiedMatching +MONDO:0957294 skos:exactMatch OMIM:620400 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 semapv:UnspecifiedMatching +MONDO:0957301 skos:exactMatch OMIM:620409 spermatogenic failure 84 semapv:UnspecifiedMatching +MONDO:0957303 skos:exactMatch OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 semapv:UnspecifiedMatching +MONDO:0957307 skos:exactMatch OMIM:620415 woolly hair-skin fragility syndrome semapv:UnspecifiedMatching +MONDO:0957308 skos:exactMatch OMIM:620416 spastic paraplegia 90a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0957309 skos:exactMatch OMIM:620417 spastic paraplegia 90b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0957314 skos:exactMatch OMIM:620422 retinitis pigmentosa 97 semapv:UnspecifiedMatching +MONDO:0957316 skos:exactMatch omim.ps:113800 Epidermolytic hyperkeratosis semapv:UnspecifiedMatching +MONDO:0957317 skos:exactMatch omim.ps:141200 Hematuria, benign familial semapv:UnspecifiedMatching +MONDO:0957318 skos:exactMatch omim.ps:167030 Nephrolithiasis, calcium oxalate semapv:UnspecifiedMatching +MONDO:0957319 skos:exactMatch omim.ps:177735 Pseudohypoaldosteronism, type I semapv:UnspecifiedMatching +MONDO:0957382 skos:exactMatch OMIM:620423 multiple mitochondrial dysfunctions syndrome 7 semapv:UnspecifiedMatching +MONDO:0957385 skos:exactMatch OMIM:620427 dystonia 37, early-onset, with striatal lesions semapv:UnspecifiedMatching +MONDO:0957386 skos:exactMatch OMIM:620428 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0957388 skos:exactMatch OMIM:620430 autoimmune disease, multisystem, infantile-onset, 3 semapv:UnspecifiedMatching +MONDO:0957396 skos:exactMatch OMIM:620438 ciliary dyskinesia, primary, 51 semapv:UnspecifiedMatching +MONDO:0957397 skos:exactMatch OMIM:620439 intellectual developmental disorder, autosomal dominant 72 semapv:UnspecifiedMatching +MONDO:0957400 skos:exactMatch omim.ps:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:UnspecifiedMatching +MONDO:0957494 skos:exactMatch OMIM:301109 autoinflammatory disease, multisystem, with immune dysregulation, X-linked semapv:UnspecifiedMatching +MONDO:0957495 skos:exactMatch OMIM:301110 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature semapv:UnspecifiedMatching +MONDO:0957496 skos:exactMatch OMIM:301111 intellectual developmental disorder, X-linked 112 semapv:UnspecifiedMatching +MONDO:0957497 skos:exactMatch OMIM:620443 disabling pansclerotic morphea of childhood semapv:UnspecifiedMatching +MONDO:0957530 skos:exactMatch OMIM:620442 breast-ovarian cancer, familial, susceptibility to, 5 semapv:UnspecifiedMatching +MONDO:0957531 skos:exactMatch OMIM:620445 neurodevelopmental disorder with microcephaly and movement abnormalities semapv:UnspecifiedMatching +MONDO:0957533 skos:exactMatch OMIM:620447 megalencephalic leukoencephalopathy with subcortical cysts 3 semapv:UnspecifiedMatching +MONDO:0957534 skos:exactMatch OMIM:620448 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting semapv:UnspecifiedMatching +MONDO:0957535 skos:exactMatch OMIM:620449 immunodeficiency 112 semapv:UnspecifiedMatching +MONDO:0957536 skos:exactMatch OMIM:620450 intellectual developmental disorder, autosomal dominant 73 semapv:UnspecifiedMatching +MONDO:0957537 skos:exactMatch OMIM:620451 combined oxidative phosphorylation deficiency 58 semapv:UnspecifiedMatching +MONDO:0957538 skos:exactMatch OMIM:620452 amyotrophic lateral sclerosis 28 semapv:UnspecifiedMatching +MONDO:0957539 skos:exactMatch OMIM:620453 dystonia 22, juvenile-onset semapv:UnspecifiedMatching +MONDO:0957540 skos:exactMatch OMIM:620454 congenital disorder of glycosylation, iia iiaa semapv:UnspecifiedMatching +MONDO:0957541 skos:exactMatch OMIM:620455 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures semapv:UnspecifiedMatching +MONDO:0957542 skos:exactMatch OMIM:620456 dystonia 22, adult-onset semapv:UnspecifiedMatching +MONDO:0957543 skos:exactMatch OMIM:620457 auriculocondylar syndrome 4 semapv:UnspecifiedMatching +MONDO:0957544 skos:exactMatch OMIM:620458 auriculocondylar syndrome 2b semapv:UnspecifiedMatching +MONDO:0957545 skos:exactMatch OMIM:620462 cardiomyopathy, dilated, 2i semapv:UnspecifiedMatching +MONDO:0957553 skos:exactMatch omim.ps:616355 Houge-Janssens syndrome semapv:UnspecifiedMatching +MONDO:0957560 skos:exactMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:UnspecifiedMatching +MONDO:0957561 skos:exactMatch OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 semapv:UnspecifiedMatching +MONDO:0957563 skos:exactMatch OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay semapv:UnspecifiedMatching +MONDO:0957564 skos:exactMatch OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy semapv:UnspecifiedMatching +MONDO:0957572 skos:exactMatch OMIM:620478 thrombocytopenia 9 semapv:UnspecifiedMatching +MONDO:0957575 skos:exactMatch OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 semapv:UnspecifiedMatching +MONDO:0957576 skos:exactMatch OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development semapv:UnspecifiedMatching +MONDO:0957577 skos:exactMatch OMIM:620483 variegate porphyria, childhood-onset semapv:UnspecifiedMatching +MONDO:0957578 skos:exactMatch OMIM:620484 thrombocytopenia 10 semapv:UnspecifiedMatching +MONDO:0957580 skos:exactMatch OMIM:620486 bleeding disorder, platelet-type, 25 semapv:UnspecifiedMatching +MONDO:0957583 skos:exactMatch OMIM:620489 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0957584 skos:exactMatch OMIM:620490 spermatogenic failure 85 semapv:UnspecifiedMatching +MONDO:0957588 skos:exactMatch OMIM:620494 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0957593 skos:exactMatch OMIM:620499 spermatogenic failure 86 semapv:UnspecifiedMatching +MONDO:0957594 skos:exactMatch OMIM:620500 spermatogenic failure 87 semapv:UnspecifiedMatching +MONDO:0957595 skos:exactMatch OMIM:620501 ziegler-huang syndrome semapv:UnspecifiedMatching +MONDO:0957599 skos:exactMatch omim.ps:617290 Epilepsy, early-onset semapv:UnspecifiedMatching +MONDO:0957779 skos:exactMatch OMIM:620502 neurodevelopmental disorder with language delay and variable cognitive abnormalities semapv:UnspecifiedMatching +MONDO:0957780 skos:exactMatch OMIM:620504 developmental and epileptic encephalopathy 111 semapv:UnspecifiedMatching +MONDO:0957783 skos:exactMatch OMIM:620507 ichthyosis with erythrokeratoderma semapv:UnspecifiedMatching +MONDO:0957786 skos:exactMatch OMIM:620510 xerosis and growth failure with immune and pulmonary dysfunction syndrome semapv:UnspecifiedMatching +MONDO:0957787 skos:exactMatch OMIM:620511 fliedner-zweier syndrome semapv:UnspecifiedMatching +MONDO:0957788 skos:exactMatch OMIM:620512 spastic paraplegia 18a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0957790 skos:exactMatch OMIM:620514 immune dysregulation, autoimmunity, and autoinflammation semapv:UnspecifiedMatching +MONDO:0957791 skos:exactMatch OMIM:620515 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction semapv:UnspecifiedMatching +MONDO:0957795 skos:exactMatch OMIM:620519 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities semapv:UnspecifiedMatching +MONDO:0957807 skos:exactMatch OMIM:620532 hyper-ige syndrome 6, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching +MONDO:0957809 skos:exactMatch OMIM:620534 neutropenia, severe congenital, 10, autosomal recessive semapv:UnspecifiedMatching +MONDO:0957810 skos:exactMatch OMIM:620535 developmental delay, dysmorphic facies, and brain anomalies semapv:UnspecifiedMatching +MONDO:0957811 skos:exactMatch OMIM:620536 alport syndrome 3b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0957812 skos:exactMatch OMIM:620537 developmental and epileptic encephalopathy 112 semapv:UnspecifiedMatching +MONDO:0957813 skos:exactMatch OMIM:620538 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia semapv:UnspecifiedMatching +MONDO:0957815 skos:exactMatch OMIM:620540 developmental delay with or without epilepsy semapv:UnspecifiedMatching +MONDO:0957819 skos:exactMatch OMIM:620545 arthrogryposis, distal, iia 12 semapv:UnspecifiedMatching +MONDO:0957820 skos:exactMatch OMIM:620546 congenital disorder of glycosylation, iia iibb semapv:UnspecifiedMatching +MONDO:0957821 skos:exactMatch OMIM:620547 spermatogenic failure 88 semapv:UnspecifiedMatching +MONDO:0957822 skos:exactMatch OMIM:620548 premature ovarian failure 22 semapv:UnspecifiedMatching +MONDO:0957824 skos:exactMatch OMIM:620550 optic atrophy 14 semapv:UnspecifiedMatching +MONDO:0957825 skos:exactMatch OMIM:620551 deafness, autosomal recessive 121 semapv:UnspecifiedMatching +MONDO:0957832 skos:exactMatch OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia semapv:UnspecifiedMatching +MONDO:0957870 skos:exactMatch OMIM:620312 leukoencephalopathy with vanishing white matter 2 semapv:UnspecifiedMatching +MONDO:0957871 skos:exactMatch OMIM:620313 leukoencephalopathy with vanishing white matter 3 semapv:UnspecifiedMatching +MONDO:0957872 skos:exactMatch OMIM:620314 leukoencephalopathy with vanishing white matter 4 semapv:UnspecifiedMatching +MONDO:0957873 skos:exactMatch OMIM:620315 leukoencephalopathy with vanishing white matter 5 semapv:UnspecifiedMatching +MONDO:0957874 skos:exactMatch OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 semapv:UnspecifiedMatching +MONDO:0957875 skos:exactMatch OMIM:620528 neuronopathy, distal hereditary motor, autosomal dominant 11 semapv:UnspecifiedMatching +MONDO:0957876 skos:exactMatch OMIM:620542 neuronopathy, distal hereditary motor, autosomal recessive 10 semapv:UnspecifiedMatching +MONDO:0957919 skos:exactMatch OMIM:301114 lui-jee-baron syndrome semapv:UnspecifiedMatching +MONDO:0957920 skos:exactMatch OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation semapv:UnspecifiedMatching +MONDO:0957921 skos:exactMatch OMIM:620568 cornelia lange lange syndrome 6 semapv:UnspecifiedMatching +MONDO:0957922 skos:exactMatch OMIM:620570 ciliary dyskinesia, primary, 52 semapv:UnspecifiedMatching +MONDO:0957928 skos:exactMatch OMIM:620576 otosclerosis 11 semapv:UnspecifiedMatching +MONDO:0957935 skos:exactMatch OMIM:620583 optic atrophy 15 semapv:UnspecifiedMatching +MONDO:0957953 skos:exactMatch OMIM:620601 garg-mishra progeroid syndrome semapv:UnspecifiedMatching +MONDO:0957954 skos:exactMatch OMIM:620602 lymphatic malformation 14 semapv:UnspecifiedMatching +MONDO:0957955 skos:exactMatch OMIM:620603 immunodeficiency 114, folate-responsive semapv:UnspecifiedMatching +MONDO:0957958 skos:exactMatch OMIM:620606 spastic paraplegia 72b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0957960 skos:exactMatch OMIM:620609 long-olsen-distelmaier syndrome semapv:UnspecifiedMatching +MONDO:0957961 skos:exactMatch OMIM:620610 oocyte/zygote/embryo maturation arrest 21 semapv:UnspecifiedMatching +MONDO:0957978 skos:exactMatch OMIM:620629 optic atrophy 16 semapv:UnspecifiedMatching +MONDO:0957981 skos:exactMatch OMIM:620632 immunodeficiency 115 with autoinflammation semapv:UnspecifiedMatching +MONDO:0957984 skos:exactMatch OMIM:620635 cardiomyopathy, dilated, 2j semapv:UnspecifiedMatching +MONDO:0957985 skos:exactMatch OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline semapv:UnspecifiedMatching +MONDO:0957988 skos:exactMatch OMIM:620639 osteogenesis imperfecta, iia 23 semapv:UnspecifiedMatching +MONDO:0957990 skos:exactMatch OMIM:620641 tan-almurshedi syndrome semapv:UnspecifiedMatching +MONDO:0957991 skos:exactMatch OMIM:620642 ciliary dyskinesia, primary, 53 semapv:UnspecifiedMatching +MONDO:0957992 skos:exactMatch OMIM:620646 combined oxidative phosphorylation deficiency 59 semapv:UnspecifiedMatching +MONDO:0957993 skos:exactMatch OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 semapv:UnspecifiedMatching +MONDO:0957997 skos:exactMatch OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome semapv:UnspecifiedMatching +MONDO:0957999 skos:exactMatch OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly semapv:UnspecifiedMatching +MONDO:0958000 skos:exactMatch OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0958001 skos:exactMatch OMIM:620655 alfadhel syndrome semapv:UnspecifiedMatching +MONDO:0958005 skos:exactMatch OMIM:620662 hoxha-aliu syndrome semapv:UnspecifiedMatching +MONDO:0958006 skos:exactMatch OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau iia semapv:UnspecifiedMatching +MONDO:0958009 skos:exactMatch OMIM:620666 spastic ataxia 10, autosomal recessive semapv:UnspecifiedMatching +MONDO:0958011 skos:exactMatch OMIM:620668 immunodeficiency 117 semapv:UnspecifiedMatching +MONDO:0958012 skos:exactMatch OMIM:620669 neurodegeneration with brain iron accumulation 9 semapv:UnspecifiedMatching +MONDO:0958013 skos:exactMatch OMIM:620670 immunodeficiency, common variable, 15 semapv:UnspecifiedMatching +MONDO:0958017 skos:exactMatch OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant semapv:UnspecifiedMatching +MONDO:0958018 skos:exactMatch OMIM:620675 leukodystrophy, hypomyelinating, 27 semapv:UnspecifiedMatching +MONDO:0958022 skos:exactMatch OMIM:620679 lipodystrophy, familial partial, iia 8 semapv:UnspecifiedMatching +MONDO:0958023 skos:exactMatch OMIM:620680 lipodystrophy, congenital generalized, iia 5 semapv:UnspecifiedMatching +MONDO:0958030 skos:exactMatch OMIM:301115 immunodeficiency 118 semapv:UnspecifiedMatching +MONDO:0958034 skos:exactMatch OMIM:620683 lipodystrophy, familial partial, iia 9 semapv:UnspecifiedMatching +MONDO:0958035 skos:exactMatch OMIM:620686 premature ovarian failure 23 semapv:UnspecifiedMatching +MONDO:0958037 skos:exactMatch OMIM:620690 developmental dysplasia of the hip 3 semapv:UnspecifiedMatching +MONDO:0958174 skos:exactMatch OMIM:109400 basal cell nevus syndrome 1 semapv:UnspecifiedMatching +MONDO:0958175 skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:UnspecifiedMatching +MONDO:0958176 skos:exactMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:UnspecifiedMatching +MONDO:0958177 skos:exactMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:UnspecifiedMatching +MONDO:0958178 skos:exactMatch OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:UnspecifiedMatching +MONDO:0958179 skos:exactMatch OMIM:605899 glycine encephalopathy 1 semapv:UnspecifiedMatching +MONDO:0958180 skos:exactMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:UnspecifiedMatching +MONDO:0958181 skos:exactMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:UnspecifiedMatching +MONDO:0958182 skos:exactMatch OMIM:613652 c1q deficiency 1 semapv:UnspecifiedMatching +MONDO:0958183 skos:exactMatch OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 semapv:UnspecifiedMatching +MONDO:0958184 skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2 semapv:UnspecifiedMatching +MONDO:0958185 skos:exactMatch OMIM:620300 mitochondrial trifunctional protein deficiency 2 semapv:UnspecifiedMatching +MONDO:0958186 skos:exactMatch OMIM:620320 hematuria, benign familial, 2 semapv:UnspecifiedMatching +MONDO:0958187 skos:exactMatch OMIM:620321 c1q deficiency 2 semapv:UnspecifiedMatching +MONDO:0958188 skos:exactMatch OMIM:620322 c1q deficiency 3 semapv:UnspecifiedMatching +MONDO:0958189 skos:exactMatch OMIM:620343 basal cell nevus syndrome 2 semapv:UnspecifiedMatching +MONDO:0958190 skos:exactMatch OMIM:620344 prolonged electroretinal response suppression 2 semapv:UnspecifiedMatching +MONDO:0958191 skos:exactMatch OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis semapv:UnspecifiedMatching +MONDO:0958192 skos:exactMatch OMIM:620398 glycine encephalopathy 2 semapv:UnspecifiedMatching +MONDO:0958193 skos:exactMatch OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 semapv:UnspecifiedMatching +MONDO:0958194 skos:exactMatch OMIM:620444 craniofacial microsomia 2 semapv:UnspecifiedMatching +MONDO:0958195 skos:exactMatch OMIM:620460 oculopharyngeal muscular dystrophy 2 semapv:UnspecifiedMatching +MONDO:0958196 skos:exactMatch OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay semapv:UnspecifiedMatching +MONDO:0958197 skos:exactMatch OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 semapv:UnspecifiedMatching +MONDO:8000006 skos:exactMatch OMIM:193670 whim syndrome 1 semapv:UnspecifiedMatching +MONDO:8000008 skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:UnspecifiedMatching +MONDO:8000011 skos:exactMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:UnspecifiedMatching +MONDO:8000012 skos:exactMatch OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 semapv:UnspecifiedMatching +MONDO:8000013 skos:exactMatch OMIM:617068 portal hypertension, noncirrhotic, 1 semapv:UnspecifiedMatching +MONDO:8000014 skos:exactMatch OMIM:107320 antiphospholipid syndrome, familial semapv:UnspecifiedMatching +MONDO:8000015 skos:exactMatch OMIM:273250 46,xy sex reversal 11 semapv:UnspecifiedMatching +MONDO:8000018 skos:exactMatch OMIM:193007 vertigo, benign recurrent semapv:UnspecifiedMatching +MONDO:8000024 skos:exactMatch OMIM:615559 autoimmune lymphoproliferative syndrome, iia 3 semapv:UnspecifiedMatching +OMIM:100050 aarskog syndrome, autosomal dominant skos:exactMatch MONDO:0007030 semapv:UnspecifiedMatching +OMIM:100070 aortic aneurysm, familial abdominal, 1 skos:exactMatch MONDO:0024521 semapv:UnspecifiedMatching +OMIM:100100 prune belly syndrome skos:exactMatch MONDO:0007032 semapv:UnspecifiedMatching +OMIM:100100 prune belly syndrome skos:exactMatch Orphanet:2970 semapv:UnspecifiedMatching +OMIM:100100 prune belly syndrome skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching +OMIM:100200 abducens palsy skos:exactMatch MONDO:0007033 semapv:UnspecifiedMatching +OMIM:100300 adams-oliver syndrome 1 skos:exactMatch MONDO:0024506 semapv:UnspecifiedMatching +OMIM:100600 acanthosis nigricans skos:exactMatch MONDO:0043003 semapv:UnspecifiedMatching +OMIM:100640 ALDH1A1 skos:exactMatch hgnc.symbol:402 semapv:UnspecifiedMatching +OMIM:100640 ALDH1A1 skos:exactMatch hgnc.symbol:ALDH1A1 semapv:UnspecifiedMatching +OMIM:100640 ALDH1A1 skos:exactMatch ncbigene:216 semapv:UnspecifiedMatching +OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:404 semapv:UnspecifiedMatching +OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:ALDH2 semapv:UnspecifiedMatching +OMIM:100650 ALDH2 skos:exactMatch ncbigene:217 semapv:UnspecifiedMatching +OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:405 semapv:UnspecifiedMatching +OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:ALDH3A1 semapv:UnspecifiedMatching +OMIM:100660 ALDH3A1 skos:exactMatch ncbigene:218 semapv:UnspecifiedMatching +OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:407 semapv:UnspecifiedMatching +OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:ALDH1B1 semapv:UnspecifiedMatching +OMIM:100670 ALDH1B1 skos:exactMatch ncbigene:219 semapv:UnspecifiedMatching +OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:94 semapv:UnspecifiedMatching +OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:ACAT2 semapv:UnspecifiedMatching +OMIM:100678 ACAT2 skos:exactMatch ncbigene:39 semapv:UnspecifiedMatching +OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:1955 semapv:UnspecifiedMatching +OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:CHRNA1 semapv:UnspecifiedMatching +OMIM:100690 CHRNA1 skos:exactMatch ncbigene:1134 semapv:UnspecifiedMatching +OMIM:100700 achard syndrome skos:exactMatch MONDO:0007036 semapv:UnspecifiedMatching +OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:1961 semapv:UnspecifiedMatching +OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:CHRNB1 semapv:UnspecifiedMatching +OMIM:100710 CHRNB1 skos:exactMatch ncbigene:1140 semapv:UnspecifiedMatching +OMIM:100720 CHRND skos:exactMatch hgnc.symbol:1965 semapv:UnspecifiedMatching +OMIM:100720 CHRND skos:exactMatch hgnc.symbol:CHRND semapv:UnspecifiedMatching +OMIM:100720 CHRND skos:exactMatch ncbigene:1144 semapv:UnspecifiedMatching +OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:1966 semapv:UnspecifiedMatching +OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:CHRNE semapv:UnspecifiedMatching +OMIM:100725 CHRNE skos:exactMatch ncbigene:1145 semapv:UnspecifiedMatching +OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:1967 semapv:UnspecifiedMatching +OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:CHRNG semapv:UnspecifiedMatching +OMIM:100730 CHRNG skos:exactMatch ncbigene:1146 semapv:UnspecifiedMatching +OMIM:100740 ACHE skos:exactMatch hgnc.symbol:108 semapv:UnspecifiedMatching +OMIM:100740 ACHE skos:exactMatch hgnc.symbol:ACHE semapv:UnspecifiedMatching +OMIM:100740 ACHE skos:exactMatch ncbigene:43 semapv:UnspecifiedMatching +OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:738 semapv:UnspecifiedMatching +OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:ASCL1 semapv:UnspecifiedMatching +OMIM:100790 ASCL1 skos:exactMatch ncbigene:429 semapv:UnspecifiedMatching +OMIM:100800 achondroplasia skos:exactMatch MONDO:0007037 semapv:UnspecifiedMatching +OMIM:100820 achoo syndrome skos:exactMatch MONDO:0007038 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch UMLS:C1412127 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:118 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:ACO2 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch ncbigene:50 semapv:UnspecifiedMatching +OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:117 semapv:UnspecifiedMatching +OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:ACO1 semapv:UnspecifiedMatching +OMIM:100880 ACO1 skos:exactMatch ncbigene:48 semapv:UnspecifiedMatching +OMIM:101000 schwannomatosis, vestibular skos:exactMatch MONDO:0007039 semapv:UnspecifiedMatching +OMIM:101120 acrocephalopolysyndactyly iia 3 skos:exactMatch MONDO:0007040 semapv:UnspecifiedMatching +OMIM:101200 apert syndrome skos:exactMatch MONDO:0007041 semapv:UnspecifiedMatching +OMIM:101400 saethre-chotzen syndrome skos:exactMatch MONDO:0007042 semapv:UnspecifiedMatching +OMIM:101600 pfeiffer syndrome skos:exactMatch MONDO:0007043 semapv:UnspecifiedMatching +OMIM:101800 acrodysostosis 1 with or without hormone resistance skos:exactMatch MONDO:0007044 semapv:UnspecifiedMatching +OMIM:101805 acrofacial dysostosis, catania iia skos:exactMatch MONDO:0007045 semapv:UnspecifiedMatching +OMIM:101840 acrokeratoderma, hereditary papulotranslucent skos:exactMatch MONDO:0007046 semapv:UnspecifiedMatching +OMIM:101850 palmoplantar keratoderma, punctate iia 3 skos:exactMatch MONDO:0007047 semapv:UnspecifiedMatching +OMIM:101900 acrokeratosis verruciformis skos:exactMatch MONDO:0007048 semapv:UnspecifiedMatching +OMIM:102000 acroleukopathy, symmetric skos:exactMatch MONDO:0007049 semapv:UnspecifiedMatching +OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch MONDO:0007050 semapv:UnspecifiedMatching +OMIM:102150 acromegaloid facial appearance syndrome skos:exactMatch MONDO:0007051 semapv:UnspecifiedMatching +OMIM:102200 pituitary adenoma 1, multiple types skos:exactMatch MONDO:0007052 semapv:UnspecifiedMatching +OMIM:102300 restless legs syndrome, susceptibility to, 1 skos:exactMatch MONDO:0007053 semapv:UnspecifiedMatching +OMIM:102350 acromial dimples skos:exactMatch MONDO:0007054 semapv:UnspecifiedMatching +OMIM:102370 acromicric dysplasia skos:exactMatch MONDO:0007055 semapv:UnspecifiedMatching +OMIM:102400 acroosteolysis skos:exactMatch MONDO:0007056 semapv:UnspecifiedMatching +OMIM:102480 ACR skos:exactMatch hgnc.symbol:126 semapv:UnspecifiedMatching +OMIM:102480 ACR skos:exactMatch hgnc.symbol:ACR semapv:UnspecifiedMatching +OMIM:102480 ACR skos:exactMatch ncbigene:49 semapv:UnspecifiedMatching +OMIM:102500 hajdu-cheney syndrome skos:exactMatch MONDO:0007057 semapv:UnspecifiedMatching +OMIM:102510 acropectorovertebral dysplasia skos:exactMatch MONDO:0007058 semapv:UnspecifiedMatching +OMIM:102520 acrorenal syndrome skos:exactMatch MONDO:0007059 semapv:UnspecifiedMatching +OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:127 semapv:UnspecifiedMatching +OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:ACRV1 semapv:UnspecifiedMatching +OMIM:102525 ACRV1 skos:exactMatch ncbigene:56 semapv:UnspecifiedMatching +OMIM:102530 spermatogenic failure 6 skos:exactMatch MONDO:0007060 semapv:UnspecifiedMatching +OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:143 semapv:UnspecifiedMatching +OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:ACTC1 semapv:UnspecifiedMatching +OMIM:102540 ACTC1 skos:exactMatch ncbigene:70 semapv:UnspecifiedMatching +OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:145 semapv:UnspecifiedMatching +OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:ACTG2 semapv:UnspecifiedMatching +OMIM:102545 ACTG2 skos:exactMatch ncbigene:72 semapv:UnspecifiedMatching +OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:144 semapv:UnspecifiedMatching +OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:ACTG1 semapv:UnspecifiedMatching +OMIM:102560 ACTG1 skos:exactMatch ncbigene:71 semapv:UnspecifiedMatching +OMIM:102565 FLNC skos:exactMatch hgnc.symbol:3756 semapv:UnspecifiedMatching +OMIM:102565 FLNC skos:exactMatch hgnc.symbol:FLNC semapv:UnspecifiedMatching +OMIM:102565 FLNC skos:exactMatch ncbigene:2318 semapv:UnspecifiedMatching +OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:164 semapv:UnspecifiedMatching +OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:ACTN2 semapv:UnspecifiedMatching +OMIM:102573 ACTN2 skos:exactMatch ncbigene:88 semapv:UnspecifiedMatching +OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:165 semapv:UnspecifiedMatching +OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:ACTN3 semapv:UnspecifiedMatching +OMIM:102574 ACTN3 skos:exactMatch ncbigene:89 semapv:UnspecifiedMatching +OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:163 semapv:UnspecifiedMatching +OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:ACTN1 semapv:UnspecifiedMatching +OMIM:102575 ACTN1 skos:exactMatch ncbigene:87 semapv:UnspecifiedMatching +OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:171 semapv:UnspecifiedMatching +OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:ACVR1 semapv:UnspecifiedMatching +OMIM:102576 ACVR1 skos:exactMatch ncbigene:90 semapv:UnspecifiedMatching +OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:9972 semapv:UnspecifiedMatching +OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:RFC4 semapv:UnspecifiedMatching +OMIM:102577 RFC4 skos:exactMatch ncbigene:5984 semapv:UnspecifiedMatching +OMIM:102578 PML skos:exactMatch hgnc.symbol:9113 semapv:UnspecifiedMatching +OMIM:102578 PML skos:exactMatch hgnc.symbol:PML semapv:UnspecifiedMatching +OMIM:102578 PML skos:exactMatch ncbigene:5371 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch UMLS:C1419348 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:9969 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:RFC1 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch ncbigene:5981 semapv:UnspecifiedMatching +OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:173 semapv:UnspecifiedMatching +OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:ACVR2A semapv:UnspecifiedMatching +OMIM:102581 ACVR2A skos:exactMatch ncbigene:92 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch UMLS:C1367307 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch UMLS:C4014795 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch hgnc.symbol:11364 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch hgnc.symbol:STAT3 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch ncbigene:6774 semapv:UnspecifiedMatching +OMIM:102590 skos:exactMatch MONDO:0007061 semapv:UnspecifiedMatching +OMIM:102593 AOAH skos:exactMatch hgnc.symbol:548 semapv:UnspecifiedMatching +OMIM:102593 AOAH skos:exactMatch hgnc.symbol:AOAH semapv:UnspecifiedMatching +OMIM:102593 AOAH skos:exactMatch ncbigene:313 semapv:UnspecifiedMatching +OMIM:102595 ACYP2 skos:exactMatch hgnc.symbol:180 semapv:UnspecifiedMatching +OMIM:102595 ACYP2 skos:exactMatch hgnc.symbol:ACYP2 semapv:UnspecifiedMatching +OMIM:102595 ACYP2 skos:exactMatch ncbigene:98 semapv:UnspecifiedMatching +OMIM:102600 APRT skos:exactMatch hgnc.symbol:626 semapv:UnspecifiedMatching +OMIM:102600 APRT skos:exactMatch hgnc.symbol:APRT semapv:UnspecifiedMatching +OMIM:102600 APRT skos:exactMatch ncbigene:353 semapv:UnspecifiedMatching +OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:129 semapv:UnspecifiedMatching +OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:ACTA1 semapv:UnspecifiedMatching +OMIM:102610 ACTA1 skos:exactMatch ncbigene:58 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch UMLS:C1412137 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch UMLS:C2673186 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch UMLS:C3279690 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:130 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:ACTA2 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch ncbigene:59 semapv:UnspecifiedMatching +OMIM:102630 ACTB skos:exactMatch hgnc.symbol:132 semapv:UnspecifiedMatching +OMIM:102630 ACTB skos:exactMatch hgnc.symbol:ACTB semapv:UnspecifiedMatching +OMIM:102630 ACTB skos:exactMatch ncbigene:60 semapv:UnspecifiedMatching +OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:11177 semapv:UnspecifiedMatching +OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:SOAT1 semapv:UnspecifiedMatching +OMIM:102642 SOAT1 skos:exactMatch ncbigene:6646 semapv:UnspecifiedMatching +OMIM:102645 APEH skos:exactMatch hgnc.symbol:586 semapv:UnspecifiedMatching +OMIM:102645 APEH skos:exactMatch hgnc.symbol:APEH semapv:UnspecifiedMatching +OMIM:102645 APEH skos:exactMatch ncbigene:327 semapv:UnspecifiedMatching +OMIM:102650 adactylia, unilateral skos:exactMatch MONDO:0007062 semapv:UnspecifiedMatching +OMIM:102660 adamantinoma of long bones skos:exactMatch MONDO:0002422 semapv:UnspecifiedMatching +OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:6765 semapv:UnspecifiedMatching +OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:MADCAM1 semapv:UnspecifiedMatching +OMIM:102670 MADCAM1 skos:exactMatch ncbigene:8174 semapv:UnspecifiedMatching +OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:243 semapv:UnspecifiedMatching +OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:ADD1 semapv:UnspecifiedMatching +OMIM:102680 ADD1 skos:exactMatch ncbigene:118 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch UMLS:C1412231 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:244 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:ADD2 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch ncbigene:119 semapv:UnspecifiedMatching +OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:22 semapv:UnspecifiedMatching +OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:AAVS1 semapv:UnspecifiedMatching +OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch MONDO:0007064 semapv:UnspecifiedMatching +OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 semapv:UnspecifiedMatching +OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 semapv:UnspecifiedMatching +OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C1863236 semapv:UnspecifiedMatching +OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:3009 semapv:UnspecifiedMatching +OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:DPP4 semapv:UnspecifiedMatching +OMIM:102720 DPP4 skos:exactMatch ncbigene:1803 semapv:UnspecifiedMatching +OMIM:102750 ADK skos:exactMatch hgnc.symbol:257 semapv:UnspecifiedMatching +OMIM:102750 ADK skos:exactMatch hgnc.symbol:ADK semapv:UnspecifiedMatching +OMIM:102750 ADK skos:exactMatch ncbigene:132 semapv:UnspecifiedMatching +OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:468 semapv:UnspecifiedMatching +OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:AMPD1 semapv:UnspecifiedMatching +OMIM:102770 AMPD1 skos:exactMatch ncbigene:270 semapv:UnspecifiedMatching +OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:469 semapv:UnspecifiedMatching +OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:AMPD2 semapv:UnspecifiedMatching +OMIM:102771 AMPD2 skos:exactMatch ncbigene:271 semapv:UnspecifiedMatching +OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:470 semapv:UnspecifiedMatching +OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:AMPD3 semapv:UnspecifiedMatching +OMIM:102772 AMPD3 skos:exactMatch ncbigene:272 semapv:UnspecifiedMatching +OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:262 semapv:UnspecifiedMatching +OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:ADORA1 semapv:UnspecifiedMatching +OMIM:102775 ADORA1 skos:exactMatch ncbigene:134 semapv:UnspecifiedMatching +OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:263 semapv:UnspecifiedMatching +OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:ADORA2A semapv:UnspecifiedMatching +OMIM:102776 ADORA2A skos:exactMatch ncbigene:135 semapv:UnspecifiedMatching +OMIM:102800 adenosine triphosphatase deficiency, anemia due to skos:exactMatch MONDO:0007066 semapv:UnspecifiedMatching +OMIM:102900 adenosine triphosphate, elevated, of erythrocytes skos:exactMatch MONDO:0007067 semapv:UnspecifiedMatching +OMIM:102900 adenosine triphosphate, elevated, of erythrocytes skos:exactMatch UMLS:C1863224 semapv:UnspecifiedMatching +OMIM:102910 ATP5F1B skos:exactMatch UMLS:C1412653 semapv:UnspecifiedMatching +OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:830 semapv:UnspecifiedMatching +OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:ATP5F1B semapv:UnspecifiedMatching +OMIM:102910 ATP5F1B skos:exactMatch ncbigene:506 semapv:UnspecifiedMatching +OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:241 semapv:UnspecifiedMatching +OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:ADCYAP1 semapv:UnspecifiedMatching +OMIM:102980 ADCYAP1 skos:exactMatch ncbigene:116 semapv:UnspecifiedMatching +OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:242 semapv:UnspecifiedMatching +OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:ADCYAP1R1 semapv:UnspecifiedMatching +OMIM:102981 ADCYAP1R1 skos:exactMatch ncbigene:117 semapv:UnspecifiedMatching +OMIM:103000 AK1 skos:exactMatch hgnc.symbol:361 semapv:UnspecifiedMatching +OMIM:103000 AK1 skos:exactMatch hgnc.symbol:AK1 semapv:UnspecifiedMatching +OMIM:103000 AK1 skos:exactMatch ncbigene:203 semapv:UnspecifiedMatching +OMIM:103020 AK2 skos:exactMatch hgnc.symbol:362 semapv:UnspecifiedMatching +OMIM:103020 AK2 skos:exactMatch hgnc.symbol:AK2 semapv:UnspecifiedMatching +OMIM:103020 AK2 skos:exactMatch ncbigene:204 semapv:UnspecifiedMatching +OMIM:103030 AK4 skos:exactMatch hgnc.symbol:363 semapv:UnspecifiedMatching +OMIM:103030 AK4 skos:exactMatch hgnc.symbol:AK4 semapv:UnspecifiedMatching +OMIM:103030 AK4 skos:exactMatch ncbigene:205 semapv:UnspecifiedMatching +OMIM:103050 adenylosuccinase deficiency skos:exactMatch MONDO:0007068 semapv:UnspecifiedMatching +OMIM:103060 ADSS skos:exactMatch hgnc.symbol:292 semapv:UnspecifiedMatching +OMIM:103060 ADSS skos:exactMatch hgnc.symbol:ADSS2 semapv:UnspecifiedMatching +OMIM:103060 ADSS skos:exactMatch ncbigene:159 semapv:UnspecifiedMatching +OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:239 semapv:UnspecifiedMatching +OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:ADCY8 semapv:UnspecifiedMatching +OMIM:103070 ADCY8 skos:exactMatch ncbigene:114 semapv:UnspecifiedMatching +OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:233 semapv:UnspecifiedMatching +OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:ADCY2 semapv:UnspecifiedMatching +OMIM:103071 ADCY2 skos:exactMatch ncbigene:108 semapv:UnspecifiedMatching +OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:232 semapv:UnspecifiedMatching +OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:ADCY1 semapv:UnspecifiedMatching +OMIM:103072 ADCY1 skos:exactMatch ncbigene:107 semapv:UnspecifiedMatching +OMIM:103100 adie pupil skos:exactMatch MONDO:0018690 semapv:UnspecifiedMatching +OMIM:103100 adie pupil skos:exactMatch Orphanet:454718 semapv:UnspecifiedMatching +OMIM:103100 adie pupil skos:exactMatch UMLS:C0001519 semapv:UnspecifiedMatching +OMIM:103100 adie pupil skos:exactMatch UMLS:C0040416 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch UMLS:C1412504 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch UMLS:C4748602 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:652 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:ARF1 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch ncbigene:375 semapv:UnspecifiedMatching +OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:658 semapv:UnspecifiedMatching +OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:ARF5 semapv:UnspecifiedMatching +OMIM:103188 ARF5 skos:exactMatch ncbigene:381 semapv:UnspecifiedMatching +OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:654 semapv:UnspecifiedMatching +OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:ARF3 semapv:UnspecifiedMatching +OMIM:103190 ARF3 skos:exactMatch ncbigene:377 semapv:UnspecifiedMatching +OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:248 semapv:UnspecifiedMatching +OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:PLIN2 semapv:UnspecifiedMatching +OMIM:103195 PLIN2 skos:exactMatch ncbigene:123 semapv:UnspecifiedMatching +OMIM:103200 adiposis dolorosa skos:exactMatch MONDO:0007070 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1335833 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C3809443 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:10990 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:SLC25A4 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch ncbigene:291 semapv:UnspecifiedMatching +OMIM:103230 adrenocortical hypofunction, chronic primary congenital skos:exactMatch MONDO:0007071 semapv:UnspecifiedMatching +OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:3638 semapv:UnspecifiedMatching +OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:FDX1 semapv:UnspecifiedMatching +OMIM:103260 FDX1 skos:exactMatch ncbigene:2230 semapv:UnspecifiedMatching +OMIM:103270 FDXR skos:exactMatch hgnc.symbol:3642 semapv:UnspecifiedMatching +OMIM:103270 FDXR skos:exactMatch hgnc.symbol:FDXR semapv:UnspecifiedMatching +OMIM:103270 FDXR skos:exactMatch ncbigene:2232 semapv:UnspecifiedMatching +OMIM:103275 ADM skos:exactMatch hgnc.symbol:259 semapv:UnspecifiedMatching +OMIM:103275 ADM skos:exactMatch hgnc.symbol:ADM semapv:UnspecifiedMatching +OMIM:103275 ADM skos:exactMatch ncbigene:133 semapv:UnspecifiedMatching +OMIM:103280 H19 skos:exactMatch hgnc.symbol:4713 semapv:UnspecifiedMatching +OMIM:103280 H19 skos:exactMatch hgnc.symbol:H19 semapv:UnspecifiedMatching +OMIM:103280 H19 skos:exactMatch ncbigene:283120 semapv:UnspecifiedMatching +OMIM:103285 adult syndrome skos:exactMatch MONDO:0007072 semapv:UnspecifiedMatching +OMIM:103285 adult syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching +OMIM:103285 adult syndrome skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching +OMIM:103300 hypoglossia-hypodactylia skos:exactMatch MONDO:0007073 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch UMLS:C1412285 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch UMLS:C3808739 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch hgnc.symbol:329 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch hgnc.symbol:AGRN semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch ncbigene:375790 semapv:UnspecifiedMatching +OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:347 semapv:UnspecifiedMatching +OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:AHNAK semapv:UnspecifiedMatching +OMIM:103390 AHNAK skos:exactMatch ncbigene:79026 semapv:UnspecifiedMatching +OMIM:103400 ainhum skos:exactMatch MONDO:0007074 semapv:UnspecifiedMatching +OMIM:103420 alacrima, congenital, autosomal dominant skos:exactMatch MONDO:0007075 semapv:UnspecifiedMatching +OMIM:103470 skos:exactMatch MONDO:0018138 semapv:UnspecifiedMatching +OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch MONDO:0007077 semapv:UnspecifiedMatching +OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch Orphanet:42665 semapv:UnspecifiedMatching +OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching +OMIM:103580 pseudohypoparathyroidism, iia 1a skos:exactMatch MONDO:0007078 semapv:UnspecifiedMatching +OMIM:103600 ALB skos:exactMatch hgnc.symbol:399 semapv:UnspecifiedMatching +OMIM:103600 ALB skos:exactMatch hgnc.symbol:ALB semapv:UnspecifiedMatching +OMIM:103600 ALB skos:exactMatch ncbigene:213 semapv:UnspecifiedMatching +OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:249 semapv:UnspecifiedMatching +OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:ADH1A semapv:UnspecifiedMatching +OMIM:103700 ADH1A skos:exactMatch ncbigene:124 semapv:UnspecifiedMatching +OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:253 semapv:UnspecifiedMatching +OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:ADH5 semapv:UnspecifiedMatching +OMIM:103710 ADH5 skos:exactMatch ncbigene:128 semapv:UnspecifiedMatching +OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:250 semapv:UnspecifiedMatching +OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:ADH1B semapv:UnspecifiedMatching +OMIM:103720 ADH1B skos:exactMatch ncbigene:125 semapv:UnspecifiedMatching +OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:251 semapv:UnspecifiedMatching +OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:ADH1C semapv:UnspecifiedMatching +OMIM:103730 ADH1C skos:exactMatch ncbigene:126 semapv:UnspecifiedMatching +OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:255 semapv:UnspecifiedMatching +OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:ADH6 semapv:UnspecifiedMatching +OMIM:103735 ADH6 skos:exactMatch ncbigene:130 semapv:UnspecifiedMatching +OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:252 semapv:UnspecifiedMatching +OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:ADH4 semapv:UnspecifiedMatching +OMIM:103740 ADH4 skos:exactMatch ncbigene:127 semapv:UnspecifiedMatching +OMIM:103780 alcohol dependence skos:exactMatch MONDO:0007079 semapv:UnspecifiedMatching +OMIM:103780 alcohol dependence skos:exactMatch UMLS:C0001973 semapv:UnspecifiedMatching +OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:380 semapv:UnspecifiedMatching +OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:AKR1A1 semapv:UnspecifiedMatching +OMIM:103830 AKR1A1 skos:exactMatch ncbigene:10327 semapv:UnspecifiedMatching +OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:414 semapv:UnspecifiedMatching +OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:ALDOA semapv:UnspecifiedMatching +OMIM:103850 ALDOA skos:exactMatch ncbigene:226 semapv:UnspecifiedMatching +OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:418 semapv:UnspecifiedMatching +OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:ALDOC semapv:UnspecifiedMatching +OMIM:103870 ALDOC skos:exactMatch ncbigene:230 semapv:UnspecifiedMatching +OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:381 semapv:UnspecifiedMatching +OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:AKR1B1 semapv:UnspecifiedMatching +OMIM:103880 AKR1B1 skos:exactMatch ncbigene:231 semapv:UnspecifiedMatching +OMIM:103900 hyperaldosteronism, familial, iia 1 skos:exactMatch MONDO:0007080 semapv:UnspecifiedMatching +OMIM:103920 allergic bronchopulmonary aspergillosis, familial skos:exactMatch MONDO:0015243 semapv:UnspecifiedMatching +OMIM:103950 A2M skos:exactMatch hgnc.symbol:7 semapv:UnspecifiedMatching +OMIM:103950 A2M skos:exactMatch hgnc.symbol:A2M semapv:UnspecifiedMatching +OMIM:103950 A2M skos:exactMatch ncbigene:2 semapv:UnspecifiedMatching +OMIM:104000 alopecia areata 1 skos:exactMatch MONDO:0007082 semapv:UnspecifiedMatching +OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch MONDO:0007083 semapv:UnspecifiedMatching +OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching +OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch UMLS:C3151468 semapv:UnspecifiedMatching +OMIM:104110 alopecia, familial focal skos:exactMatch MONDO:0007084 semapv:UnspecifiedMatching +OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality skos:exactMatch MONDO:0007085 semapv:UnspecifiedMatching +OMIM:104145 AFM skos:exactMatch hgnc.symbol:316 semapv:UnspecifiedMatching +OMIM:104145 AFM skos:exactMatch hgnc.symbol:AFM semapv:UnspecifiedMatching +OMIM:104145 AFM skos:exactMatch ncbigene:173 semapv:UnspecifiedMatching +OMIM:104150 AFP skos:exactMatch hgnc.symbol:317 semapv:UnspecifiedMatching +OMIM:104150 AFP skos:exactMatch hgnc.symbol:AFP semapv:UnspecifiedMatching +OMIM:104150 AFP skos:exactMatch ncbigene:174 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch UMLS:C1412611 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:777 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:ZFHX3 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch ncbigene:463 semapv:UnspecifiedMatching +OMIM:104160 GANAB skos:exactMatch hgnc.symbol:4138 semapv:UnspecifiedMatching +OMIM:104160 GANAB skos:exactMatch hgnc.symbol:GANAB semapv:UnspecifiedMatching +OMIM:104160 GANAB skos:exactMatch ncbigene:23193 semapv:UnspecifiedMatching +OMIM:104170 NAGA skos:exactMatch hgnc.symbol:7631 semapv:UnspecifiedMatching +OMIM:104170 NAGA skos:exactMatch hgnc.symbol:NAGA semapv:UnspecifiedMatching +OMIM:104170 NAGA skos:exactMatch ncbigene:4668 semapv:UnspecifiedMatching +OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:4253 semapv:UnspecifiedMatching +OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:GGTA1 semapv:UnspecifiedMatching +OMIM:104175 GGTA1P skos:exactMatch ncbigene:2681 semapv:UnspecifiedMatching +OMIM:104180 GANC skos:exactMatch hgnc.symbol:4139 semapv:UnspecifiedMatching +OMIM:104180 GANC skos:exactMatch hgnc.symbol:GANC semapv:UnspecifiedMatching +OMIM:104180 GANC skos:exactMatch ncbigene:2595 semapv:UnspecifiedMatching +OMIM:104200 alport syndrome 3a, autosomal dominant skos:exactMatch MONDO:0007086 semapv:UnspecifiedMatching +OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:281 semapv:UnspecifiedMatching +OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:ADRA2A semapv:UnspecifiedMatching +OMIM:104210 ADRA2A skos:exactMatch ncbigene:150 semapv:UnspecifiedMatching +OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:280 semapv:UnspecifiedMatching +OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:ADRA1D semapv:UnspecifiedMatching +OMIM:104219 ADRA1D skos:exactMatch ncbigene:146 semapv:UnspecifiedMatching +OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:278 semapv:UnspecifiedMatching +OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:ADRA1B semapv:UnspecifiedMatching +OMIM:104220 ADRA1B skos:exactMatch ncbigene:147 semapv:UnspecifiedMatching +OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:277 semapv:UnspecifiedMatching +OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:ADRA1A semapv:UnspecifiedMatching +OMIM:104221 ADRA1A skos:exactMatch ncbigene:148 semapv:UnspecifiedMatching +OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:6701 semapv:UnspecifiedMatching +OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:LRPAP1 semapv:UnspecifiedMatching +OMIM:104225 LRPAP1 skos:exactMatch ncbigene:4043 semapv:UnspecifiedMatching +OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:4015 semapv:UnspecifiedMatching +OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:FUT4 semapv:UnspecifiedMatching +OMIM:104230 FUT4 skos:exactMatch ncbigene:2526 semapv:UnspecifiedMatching +OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:10864 semapv:UnspecifiedMatching +OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:ST3GAL4 semapv:UnspecifiedMatching +OMIM:104240 ST3GAL4 skos:exactMatch ncbigene:6484 semapv:UnspecifiedMatching +OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:283 semapv:UnspecifiedMatching +OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:ADRA2C semapv:UnspecifiedMatching +OMIM:104250 ADRA2C skos:exactMatch ncbigene:152 semapv:UnspecifiedMatching +OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:282 semapv:UnspecifiedMatching +OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:ADRA2B semapv:UnspecifiedMatching +OMIM:104260 ADRA2B skos:exactMatch ncbigene:151 semapv:UnspecifiedMatching +OMIM:104290 alternating hemiplegia of childhood 1 skos:exactMatch MONDO:0007087 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch MONDO:0007088 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C0002395 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1541844 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching +OMIM:104310 alzheimer disease 2 skos:exactMatch MONDO:0007089 semapv:UnspecifiedMatching +OMIM:104310 alzheimer disease 2 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching +OMIM:104310 alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching +OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:9508 semapv:UnspecifiedMatching +OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:PSEN1 semapv:UnspecifiedMatching +OMIM:104311 PSEN1 skos:exactMatch ncbigene:5663 semapv:UnspecifiedMatching +OMIM:104350 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch MONDO:0007090 semapv:UnspecifiedMatching +OMIM:104400 amelia and terminal transverse hemimelia skos:exactMatch MONDO:0007091 semapv:UnspecifiedMatching +OMIM:104500 amelogenesis imperfecta, iia 1b skos:exactMatch MONDO:0007092 semapv:UnspecifiedMatching +OMIM:104510 amelogenesis imperfecta, iia 4 skos:exactMatch MONDO:0007093 semapv:UnspecifiedMatching +OMIM:104530 amelogenesis imperfecta, iia 1a skos:exactMatch MONDO:0007094 semapv:UnspecifiedMatching +OMIM:104570 ameloonychohypohidrotic syndrome skos:exactMatch MONDO:0007095 semapv:UnspecifiedMatching +OMIM:104600 amenorrhea-galactorrhea syndrome skos:exactMatch MONDO:0007096 semapv:UnspecifiedMatching +OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:80 semapv:UnspecifiedMatching +OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:AOC1 semapv:UnspecifiedMatching +OMIM:104610 ABP1 skos:exactMatch ncbigene:26 semapv:UnspecifiedMatching +OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:1620 semapv:UnspecifiedMatching +OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:CCT6A semapv:UnspecifiedMatching +OMIM:104613 CCT6A skos:exactMatch ncbigene:908 semapv:UnspecifiedMatching +OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:11025 semapv:UnspecifiedMatching +OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:SLC3A1 semapv:UnspecifiedMatching +OMIM:104614 SLC3A1 skos:exactMatch ncbigene:6519 semapv:UnspecifiedMatching +OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:11057 semapv:UnspecifiedMatching +OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:SLC7A1 semapv:UnspecifiedMatching +OMIM:104615 SLC7A1 skos:exactMatch ncbigene:6541 semapv:UnspecifiedMatching +OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:177 semapv:UnspecifiedMatching +OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:ACY1 semapv:UnspecifiedMatching +OMIM:104620 ACY1 skos:exactMatch ncbigene:95 semapv:UnspecifiedMatching +OMIM:104640 AREG skos:exactMatch hgnc.symbol:651 semapv:UnspecifiedMatching +OMIM:104640 AREG skos:exactMatch hgnc.symbol:AREG semapv:UnspecifiedMatching +OMIM:104640 AREG skos:exactMatch ncbigene:374 semapv:UnspecifiedMatching +OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:477 semapv:UnspecifiedMatching +OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:AMY2A semapv:UnspecifiedMatching +OMIM:104650 AMY2A skos:exactMatch ncbigene:279 semapv:UnspecifiedMatching +OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:478 semapv:UnspecifiedMatching +OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:AMY2B semapv:UnspecifiedMatching +OMIM:104660 AMY2B skos:exactMatch ncbigene:280 semapv:UnspecifiedMatching +OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:474 semapv:UnspecifiedMatching +OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:AMY1A semapv:UnspecifiedMatching +OMIM:104700 AMY1A skos:exactMatch ncbigene:276 semapv:UnspecifiedMatching +OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:475 semapv:UnspecifiedMatching +OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:AMY1B semapv:UnspecifiedMatching +OMIM:104701 AMY1B skos:exactMatch ncbigene:277 semapv:UnspecifiedMatching +OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:476 semapv:UnspecifiedMatching +OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:AMY1C semapv:UnspecifiedMatching +OMIM:104702 AMY1C skos:exactMatch ncbigene:278 semapv:UnspecifiedMatching +OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:10513 semapv:UnspecifiedMatching +OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:SAA1 semapv:UnspecifiedMatching +OMIM:104750 SAA1 skos:exactMatch ncbigene:6288 semapv:UnspecifiedMatching +OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:10514 semapv:UnspecifiedMatching +OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:SAA2 semapv:UnspecifiedMatching +OMIM:104751 SAA2 skos:exactMatch ncbigene:6289 semapv:UnspecifiedMatching +OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:10516 semapv:UnspecifiedMatching +OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:SAA4 semapv:UnspecifiedMatching +OMIM:104752 SAA4 skos:exactMatch ncbigene:6291 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C1364818 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C1863053 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C2751494 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C2931672 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C3549448 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C3888307 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C3888308 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C3888309 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C4015784 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C4015785 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch UMLS:C4015786 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch hgnc.symbol:620 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch hgnc.symbol:APP semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch ncbigene:351 semapv:UnspecifiedMatching +OMIM:104770 APCS skos:exactMatch hgnc.symbol:584 semapv:UnspecifiedMatching +OMIM:104770 APCS skos:exactMatch hgnc.symbol:APCS semapv:UnspecifiedMatching +OMIM:104770 APCS skos:exactMatch ncbigene:325 semapv:UnspecifiedMatching +OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:597 semapv:UnspecifiedMatching +OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:APLP1 semapv:UnspecifiedMatching +OMIM:104775 APLP1 skos:exactMatch ncbigene:333 semapv:UnspecifiedMatching +OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:598 semapv:UnspecifiedMatching +OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:APLP2 semapv:UnspecifiedMatching +OMIM:104776 APLP2 skos:exactMatch ncbigene:334 semapv:UnspecifiedMatching +OMIM:105120 amyloidosis, finnish iia skos:exactMatch MONDO:0007097 semapv:UnspecifiedMatching +OMIM:105120 amyloidosis, finnish iia skos:exactMatch Orphanet:85448 semapv:UnspecifiedMatching +OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C0936273 semapv:UnspecifiedMatching +OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C1622345 semapv:UnspecifiedMatching +OMIM:105150 cerebral amyloid angiopathy, cst3-related skos:exactMatch MONDO:0007098 semapv:UnspecifiedMatching +OMIM:105200 amyloidosis, familial visceral skos:exactMatch MONDO:0007099 semapv:UnspecifiedMatching +OMIM:105210 amyloidosis, hereditary, transthyretin-related skos:exactMatch MONDO:0007100 semapv:UnspecifiedMatching +OMIM:105250 amyloidosis, primary localized cutaneous, 1 skos:exactMatch MONDO:0024522 semapv:UnspecifiedMatching +OMIM:105300 amyotrophic dystonic paraplegia skos:exactMatch MONDO:0007102 semapv:UnspecifiedMatching +OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch MONDO:0007103 semapv:UnspecifiedMatching +OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching +OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching +OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 skos:exactMatch MONDO:0007104 semapv:UnspecifiedMatching +OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch MONDO:0007105 semapv:UnspecifiedMatching +OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching +OMIM:105563 anal sphincter dysplasia skos:exactMatch MONDO:0007106 semapv:UnspecifiedMatching +OMIM:105565 anal sphincter myopathy, internal skos:exactMatch MONDO:0007107 semapv:UnspecifiedMatching +OMIM:105570 androstenone, ability to smell skos:exactMatch MONDO:0044214 semapv:UnspecifiedMatching +OMIM:105580 anal canal carcinoma skos:exactMatch MONDO:0007108 semapv:UnspecifiedMatching +OMIM:105590 ALK skos:exactMatch hgnc.symbol:427 semapv:UnspecifiedMatching +OMIM:105590 ALK skos:exactMatch hgnc.symbol:ALK semapv:UnspecifiedMatching +OMIM:105590 ALK skos:exactMatch ncbigene:238 semapv:UnspecifiedMatching +OMIM:105600 anemia, congenital dyserythropoietic, iia iiia skos:exactMatch MONDO:0007109 semapv:UnspecifiedMatching +OMIM:105650 diamond-blackfan anemia 1 skos:exactMatch MONDO:0007110 semapv:UnspecifiedMatching +OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch MONDO:0007111 semapv:UnspecifiedMatching +OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching +OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching +OMIM:105805 aneurysm of interventricular septum skos:exactMatch MONDO:0007112 semapv:UnspecifiedMatching +OMIM:105830 angelman syndrome skos:exactMatch MONDO:0007113 semapv:UnspecifiedMatching +OMIM:105835 angel-shaped phalangoepiphyseal dysplasia skos:exactMatch MONDO:0007114 semapv:UnspecifiedMatching +OMIM:105850 ANG skos:exactMatch hgnc.symbol:483 semapv:UnspecifiedMatching +OMIM:105850 ANG skos:exactMatch hgnc.symbol:ANG semapv:UnspecifiedMatching +OMIM:105850 ANG skos:exactMatch ncbigene:283 semapv:UnspecifiedMatching +OMIM:106050 angioma serpiginosum, autosomal dominant skos:exactMatch MONDO:0007115 semapv:UnspecifiedMatching +OMIM:106070 angioma, hereditary neurocutaneous skos:exactMatch MONDO:0007116 semapv:UnspecifiedMatching +OMIM:106100 angioedema, hereditary, 1 skos:exactMatch MONDO:0033946 semapv:UnspecifiedMatching +OMIM:106150 AGT skos:exactMatch hgnc.symbol:333 semapv:UnspecifiedMatching +OMIM:106150 AGT skos:exactMatch hgnc.symbol:AGT semapv:UnspecifiedMatching +OMIM:106150 AGT skos:exactMatch ncbigene:183 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch UMLS:C0266313 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch UMLS:C1439284 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch UMLS:C3837652 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:336 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:AGTR1 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch ncbigene:185 semapv:UnspecifiedMatching +OMIM:106180 ACE skos:exactMatch hgnc.symbol:2707 semapv:UnspecifiedMatching +OMIM:106180 ACE skos:exactMatch hgnc.symbol:ACE semapv:UnspecifiedMatching +OMIM:106180 ACE skos:exactMatch ncbigene:1636 semapv:UnspecifiedMatching +OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch MONDO:0007118 semapv:UnspecifiedMatching +OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch Orphanet:468666 semapv:UnspecifiedMatching +OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch UMLS:C1862871 semapv:UnspecifiedMatching +OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:11029 semapv:UnspecifiedMatching +OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:SLC4A3 semapv:UnspecifiedMatching +OMIM:106195 SLC4A3 skos:exactMatch ncbigene:6508 semapv:UnspecifiedMatching +OMIM:106210 aniridia 1 skos:exactMatch MONDO:0024507 semapv:UnspecifiedMatching +OMIM:106220 aniridia and absent patella skos:exactMatch MONDO:0007120 semapv:UnspecifiedMatching +OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract skos:exactMatch MONDO:0007121 semapv:UnspecifiedMatching +OMIM:106240 anisocoria skos:exactMatch MONDO:0007122 semapv:UnspecifiedMatching +OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate skos:exactMatch MONDO:0007123 semapv:UnspecifiedMatching +OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch MONDO:0007124 semapv:UnspecifiedMatching +OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching +OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching +OMIM:106280 ankyloglossia with or without tooth anomalies skos:exactMatch MONDO:0007125 semapv:UnspecifiedMatching +OMIM:106300 spondyloarthropathy, susceptibility to, 1 skos:exactMatch MONDO:0007126 semapv:UnspecifiedMatching +OMIM:106300 spondyloarthropathy, susceptibility to, 1 skos:exactMatch UMLS:C1862852 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch UMLS:C1412403 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch UMLS:C1833154 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch UMLS:C1970119 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:493 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:ANK2 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch ncbigene:287 semapv:UnspecifiedMatching +OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:541 semapv:UnspecifiedMatching +OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:ANXA3 semapv:UnspecifiedMatching +OMIM:106490 ANXA3 skos:exactMatch ncbigene:306 semapv:UnspecifiedMatching +OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:542 semapv:UnspecifiedMatching +OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:ANXA4 semapv:UnspecifiedMatching +OMIM:106491 ANXA4 skos:exactMatch ncbigene:307 semapv:UnspecifiedMatching +OMIM:106500 annular erythema skos:exactMatch MONDO:0007128 semapv:UnspecifiedMatching +OMIM:106600 tooth agenesis, selective, 1 skos:exactMatch MONDO:0007129 semapv:UnspecifiedMatching +OMIM:106700 total anomalous pulmonary venous return 1 skos:exactMatch MONDO:0007130 semapv:UnspecifiedMatching +OMIM:106750 anonychia with flexural pigmentation skos:exactMatch MONDO:0007131 semapv:UnspecifiedMatching +OMIM:106900 anonychia-ectrodactyly skos:exactMatch MONDO:0007132 semapv:UnspecifiedMatching +OMIM:106990 anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly skos:exactMatch MONDO:0007133 semapv:UnspecifiedMatching +OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch MONDO:0007134 semapv:UnspecifiedMatching +OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching +OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch UMLS:C1862841 semapv:UnspecifiedMatching +OMIM:107000 nail disorder, nonsyndromic congenital, 6 skos:exactMatch MONDO:0007135 semapv:UnspecifiedMatching +OMIM:107100 anorectal anomalies skos:exactMatch MONDO:0007136 semapv:UnspecifiedMatching +OMIM:107200 anosmia, isolated congenital skos:exactMatch MONDO:0007137 semapv:UnspecifiedMatching +OMIM:107250 anterior segment dysgenesis 1 skos:exactMatch MONDO:0007138 semapv:UnspecifiedMatching +OMIM:107260 antigen msk41 identified by monoclonal antibody e3 skos:exactMatch UMLS:C1862836 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch UMLS:C1413206 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch hgnc.symbol:1633 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch hgnc.symbol:CD19 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch ncbigene:930 semapv:UnspecifiedMatching +OMIM:107266 CD22 skos:exactMatch hgnc.symbol:1643 semapv:UnspecifiedMatching +OMIM:107266 CD22 skos:exactMatch hgnc.symbol:CD22 semapv:UnspecifiedMatching +OMIM:107266 CD22 skos:exactMatch ncbigene:933 semapv:UnspecifiedMatching +OMIM:107269 CD44 skos:exactMatch hgnc.symbol:1681 semapv:UnspecifiedMatching +OMIM:107269 CD44 skos:exactMatch hgnc.symbol:CD44 semapv:UnspecifiedMatching +OMIM:107269 CD44 skos:exactMatch ncbigene:960 semapv:UnspecifiedMatching +OMIM:107270 CD38 skos:exactMatch hgnc.symbol:1667 semapv:UnspecifiedMatching +OMIM:107270 CD38 skos:exactMatch hgnc.symbol:CD38 semapv:UnspecifiedMatching +OMIM:107270 CD38 skos:exactMatch ncbigene:952 semapv:UnspecifiedMatching +OMIM:107271 CD59 skos:exactMatch hgnc.symbol:1689 semapv:UnspecifiedMatching +OMIM:107271 CD59 skos:exactMatch hgnc.symbol:CD59 semapv:UnspecifiedMatching +OMIM:107271 CD59 skos:exactMatch ncbigene:966 semapv:UnspecifiedMatching +OMIM:107272 CD72 skos:exactMatch hgnc.symbol:1696 semapv:UnspecifiedMatching +OMIM:107272 CD72 skos:exactMatch hgnc.symbol:CD72 semapv:UnspecifiedMatching +OMIM:107272 CD72 skos:exactMatch ncbigene:971 semapv:UnspecifiedMatching +OMIM:107273 CD69 skos:exactMatch hgnc.symbol:1694 semapv:UnspecifiedMatching +OMIM:107273 CD69 skos:exactMatch hgnc.symbol:CD69 semapv:UnspecifiedMatching +OMIM:107273 CD69 skos:exactMatch ncbigene:969 semapv:UnspecifiedMatching +OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:16 semapv:UnspecifiedMatching +OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:SERPINA3 semapv:UnspecifiedMatching +OMIM:107280 SERPINA3 skos:exactMatch ncbigene:12 semapv:UnspecifiedMatching +OMIM:107285 SLPI skos:exactMatch hgnc.symbol:11092 semapv:UnspecifiedMatching +OMIM:107285 SLPI skos:exactMatch hgnc.symbol:SLPI semapv:UnspecifiedMatching +OMIM:107285 SLPI skos:exactMatch ncbigene:6590 semapv:UnspecifiedMatching +OMIM:107290 antipyrine metabolism skos:exactMatch MONDO:0007139 semapv:UnspecifiedMatching +OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:775 semapv:UnspecifiedMatching +OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:SERPINC1 semapv:UnspecifiedMatching +OMIM:107300 SERPINC1 skos:exactMatch ncbigene:462 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch UMLS:C1420232 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:11071 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:SLC9A1 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch ncbigene:6548 semapv:UnspecifiedMatching +OMIM:107320 antiphospholipid syndrome, familial skos:exactMatch MONDO:8000014 semapv:UnspecifiedMatching +OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:877 semapv:UnspecifiedMatching +OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:ALDH7A1 semapv:UnspecifiedMatching +OMIM:107323 ALDH7A1 skos:exactMatch ncbigene:501 semapv:UnspecifiedMatching +OMIM:107325 POLR1G skos:exactMatch hgnc.symbol:24219 semapv:UnspecifiedMatching +OMIM:107325 POLR1G skos:exactMatch hgnc.symbol:POLR1G semapv:UnspecifiedMatching +OMIM:107325 POLR1G skos:exactMatch ncbigene:10849 semapv:UnspecifiedMatching +OMIM:107400 SERPINA1 skos:exactMatch hgnc.symbol:8941 semapv:UnspecifiedMatching +OMIM:107400 SERPINA1 skos:exactMatch hgnc.symbol:SERPINA1 semapv:UnspecifiedMatching +OMIM:107400 SERPINA1 skos:exactMatch ncbigene:5265 semapv:UnspecifiedMatching +OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc.symbol:8985 semapv:UnspecifiedMatching +OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc.symbol:SERPINA2 semapv:UnspecifiedMatching +OMIM:107440 antiviral state repressor, regulator of skos:exactMatch MONDO:0007141 semapv:UnspecifiedMatching +OMIM:107450 IFNAR1 skos:exactMatch hgnc.symbol:5432 semapv:UnspecifiedMatching +OMIM:107450 IFNAR1 skos:exactMatch hgnc.symbol:IFNAR1 semapv:UnspecifiedMatching +OMIM:107450 IFNAR1 skos:exactMatch ncbigene:3454 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1334083 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:5439 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:IFNGR1 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch ncbigene:3459 semapv:UnspecifiedMatching +OMIM:107480 townes-brocks syndrome 1 skos:exactMatch MONDO:0054581 semapv:UnspecifiedMatching +OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation skos:exactMatch MONDO:0007143 semapv:UnspecifiedMatching +OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch MONDO:0007144 semapv:UnspecifiedMatching +OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:11742 semapv:UnspecifiedMatching +OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:TFAP2A semapv:UnspecifiedMatching +OMIM:107580 TFAP2A skos:exactMatch ncbigene:7020 semapv:UnspecifiedMatching +OMIM:107600 aplasia cutis congenita, nonsyndromic skos:exactMatch MONDO:0007145 semapv:UnspecifiedMatching +OMIM:107640 apnea, central sleep skos:exactMatch MONDO:0008807 semapv:UnspecifiedMatching +OMIM:107650 apnea, obstructive sleep skos:exactMatch MONDO:0007147 semapv:UnspecifiedMatching +OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:601 semapv:UnspecifiedMatching +OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:APOA2 semapv:UnspecifiedMatching +OMIM:107670 APOA2 skos:exactMatch ncbigene:336 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C0268389 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C0342608 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C0342898 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C1412468 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015830 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015831 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015832 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015833 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015834 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015835 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015836 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015837 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015838 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015842 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4015843 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017418 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017419 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017420 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C4017713 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C5231502 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch UMLS:C5231503 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:600 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:APOA1 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch ncbigene:335 semapv:UnspecifiedMatching +OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:602 semapv:UnspecifiedMatching +OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:APOA4 semapv:UnspecifiedMatching +OMIM:107690 APOA4 skos:exactMatch ncbigene:337 semapv:UnspecifiedMatching +OMIM:107700 appendicitis, proneness to skos:exactMatch MONDO:0007148 semapv:UnspecifiedMatching +OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:607 semapv:UnspecifiedMatching +OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:APOC1 semapv:UnspecifiedMatching +OMIM:107710 APOC1 skos:exactMatch ncbigene:341 semapv:UnspecifiedMatching +OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:610 semapv:UnspecifiedMatching +OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:APOC3 semapv:UnspecifiedMatching +OMIM:107720 APOC3 skos:exactMatch ncbigene:345 semapv:UnspecifiedMatching +OMIM:107730 APOB skos:exactMatch hgnc.symbol:603 semapv:UnspecifiedMatching +OMIM:107730 APOB skos:exactMatch hgnc.symbol:APOB semapv:UnspecifiedMatching +OMIM:107730 APOB skos:exactMatch ncbigene:338 semapv:UnspecifiedMatching +OMIM:107740 APOD skos:exactMatch hgnc.symbol:612 semapv:UnspecifiedMatching +OMIM:107740 APOD skos:exactMatch hgnc.symbol:APOD semapv:UnspecifiedMatching +OMIM:107740 APOD skos:exactMatch ncbigene:347 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C0036489 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C1412481 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C1862591 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C2673196 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C3887714 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015860 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015861 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015862 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015867 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015869 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015870 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015871 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015872 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015873 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015877 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015878 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015879 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015880 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4015881 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4479657 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4479658 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4479659 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4479660 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C4540528 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231504 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231505 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231506 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231507 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231508 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231509 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231510 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231555 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231556 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch UMLS:C5231557 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch hgnc.symbol:613 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch hgnc.symbol:APOE semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch ncbigene:348 semapv:UnspecifiedMatching +OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:587 semapv:UnspecifiedMatching +OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:APEX1 semapv:UnspecifiedMatching +OMIM:107748 APEX1 skos:exactMatch ncbigene:328 semapv:UnspecifiedMatching +OMIM:107750 arbitrary restriction polymorphism 1 skos:exactMatch MONDO:0007149 semapv:UnspecifiedMatching +OMIM:107750 arbitrary restriction polymorphism 1 skos:exactMatch UMLS:C1862555 semapv:UnspecifiedMatching +OMIM:107760 APOF skos:exactMatch hgnc.symbol:615 semapv:UnspecifiedMatching +OMIM:107760 APOF skos:exactMatch hgnc.symbol:APOF semapv:UnspecifiedMatching +OMIM:107760 APOF skos:exactMatch ncbigene:319 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch UMLS:C0263428 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch UMLS:C1416912 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:6692 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:LRP1 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch ncbigene:4035 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch UMLS:C1417834 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:7976 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:NR2F2 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch ncbigene:7026 semapv:UnspecifiedMatching +OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:633 semapv:UnspecifiedMatching +OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:AQP1 semapv:UnspecifiedMatching +OMIM:107776 AQP1 skos:exactMatch ncbigene:358 semapv:UnspecifiedMatching +OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:634 semapv:UnspecifiedMatching +OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:AQP2 semapv:UnspecifiedMatching +OMIM:107777 AQP2 skos:exactMatch ncbigene:359 semapv:UnspecifiedMatching +OMIM:107800 arcus corneae skos:exactMatch MONDO:0007150 semapv:UnspecifiedMatching +OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:9870 semapv:UnspecifiedMatching +OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:RARS1 semapv:UnspecifiedMatching +OMIM:107820 RARS1 skos:exactMatch ncbigene:5917 semapv:UnspecifiedMatching +OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:664 semapv:UnspecifiedMatching +OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:ARG2 semapv:UnspecifiedMatching +OMIM:107830 ARG2 skos:exactMatch ncbigene:384 semapv:UnspecifiedMatching +OMIM:107850 arm folding preference skos:exactMatch MONDO:0044215 semapv:UnspecifiedMatching +OMIM:107900 arms, malformation of skos:exactMatch MONDO:0007151 semapv:UnspecifiedMatching +OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:2594 semapv:UnspecifiedMatching +OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:CYP19A1 semapv:UnspecifiedMatching +OMIM:107910 CYP19A1 skos:exactMatch ncbigene:1588 semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch UMLS:C1413943 semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch hgnc.symbol:2719 semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch hgnc.symbol:DDC semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch ncbigene:1644 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch UMLS:C1332117 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:711 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:ARRB1 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch ncbigene:408 semapv:UnspecifiedMatching +OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:712 semapv:UnspecifiedMatching +OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:ARRB2 semapv:UnspecifiedMatching +OMIM:107941 ARRB2 skos:exactMatch ncbigene:409 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch MONDO:0007152 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293888 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293899 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:3403 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch UMLS:C1862511 semapv:UnspecifiedMatching +OMIM:108000 arteries, anomalies of skos:exactMatch MONDO:0007153 semapv:UnspecifiedMatching +OMIM:108010 arteriovenous malformations of the brain skos:exactMatch MONDO:0007154 semapv:UnspecifiedMatching +OMIM:108010 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 semapv:UnspecifiedMatching +OMIM:108010 arteriovenous malformations of the brain skos:exactMatch UMLS:C0917804 semapv:UnspecifiedMatching +OMIM:108050 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch MONDO:0007155 semapv:UnspecifiedMatching +OMIM:108100 arthritis, sacroiliac skos:exactMatch MONDO:0007156 semapv:UnspecifiedMatching +OMIM:108100 arthritis, sacroiliac skos:exactMatch UMLS:C0748473 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch MONDO:0007157 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C0220662 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C5193002 semapv:UnspecifiedMatching +OMIM:108145 arthrogryposis, distal, iia 5 skos:exactMatch MONDO:0007158 semapv:UnspecifiedMatching +OMIM:108200 arthrogryposis, distal, iia 6 skos:exactMatch MONDO:0007159 semapv:UnspecifiedMatching +OMIM:108300 stickler syndrome, iia 1 skos:exactMatch MONDO:0007160 semapv:UnspecifiedMatching +OMIM:108320 artichoke, modification of taste by skos:exactMatch MONDO:0044216 semapv:UnspecifiedMatching +OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:2595 semapv:UnspecifiedMatching +OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:CYP1A1 semapv:UnspecifiedMatching +OMIM:108330 CYP1A1 skos:exactMatch ncbigene:1543 semapv:UnspecifiedMatching +OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:7645 semapv:UnspecifiedMatching +OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:NAT1 semapv:UnspecifiedMatching +OMIM:108345 NAT1 skos:exactMatch ncbigene:9 semapv:UnspecifiedMatching +OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:4566 semapv:UnspecifiedMatching +OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:GRB2 semapv:UnspecifiedMatching +OMIM:108355 GRB2 skos:exactMatch ncbigene:2885 semapv:UnspecifiedMatching +OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:742 semapv:UnspecifiedMatching +OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:ASGR1 semapv:UnspecifiedMatching +OMIM:108360 ASGR1 skos:exactMatch ncbigene:432 semapv:UnspecifiedMatching +OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:743 semapv:UnspecifiedMatching +OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:ASGR2 semapv:UnspecifiedMatching +OMIM:108361 ASGR2 skos:exactMatch ncbigene:433 semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch UMLS:C1412588 semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch hgnc.symbol:753 semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch hgnc.symbol:ASNS semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch ncbigene:440 semapv:UnspecifiedMatching +OMIM:108390 asparagus, specific smell hypersensitivity skos:exactMatch MONDO:0044217 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch UMLS:C1384524 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:7643 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:NARS1 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch ncbigene:4677 semapv:UnspecifiedMatching +OMIM:108420 spermatogenic failure 2 skos:exactMatch MONDO:0007161 semapv:UnspecifiedMatching +OMIM:108450 asymmetric short stature syndrome skos:exactMatch MONDO:0007162 semapv:UnspecifiedMatching +OMIM:108500 episodic ataxia, iia 2 skos:exactMatch MONDO:0007163 semapv:UnspecifiedMatching +OMIM:108600 spastic ataxia 1, autosomal dominant skos:exactMatch MONDO:0007164 semapv:UnspecifiedMatching +OMIM:108650 spastic ataxia 7, autosomal dominant skos:exactMatch MONDO:0007165 semapv:UnspecifiedMatching +OMIM:108700 ataxia with fasciculations skos:exactMatch MONDO:0007166 semapv:UnspecifiedMatching +OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch MONDO:0007167 semapv:UnspecifiedMatching +OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching +OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch UMLS:C0265283 semapv:UnspecifiedMatching +OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch MONDO:0007168 semapv:UnspecifiedMatching +OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching +OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching +OMIM:108725 atherosclerosis susceptibility skos:exactMatch MONDO:0007169 semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch UMLS:C1412125 semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch hgnc.symbol:115 semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch hgnc.symbol:ACLY semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch ncbigene:47 semapv:UnspecifiedMatching +OMIM:108729 ATP5F1C skos:exactMatch UMLS:C1412656 semapv:UnspecifiedMatching +OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:833 semapv:UnspecifiedMatching +OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:ATP5F1C semapv:UnspecifiedMatching +OMIM:108729 ATP5F1C skos:exactMatch ncbigene:509 semapv:UnspecifiedMatching +OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:811 semapv:UnspecifiedMatching +OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:ATP2A1 semapv:UnspecifiedMatching +OMIM:108730 ATP2A1 skos:exactMatch ncbigene:487 semapv:UnspecifiedMatching +OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:814 semapv:UnspecifiedMatching +OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:ATP2B1 semapv:UnspecifiedMatching +OMIM:108731 ATP2B1 skos:exactMatch ncbigene:490 semapv:UnspecifiedMatching +OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:817 semapv:UnspecifiedMatching +OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:ATP2B4 semapv:UnspecifiedMatching +OMIM:108732 ATP2B4 skos:exactMatch ncbigene:493 semapv:UnspecifiedMatching +OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:815 semapv:UnspecifiedMatching +OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:ATP2B2 semapv:UnspecifiedMatching +OMIM:108733 ATP2B2 skos:exactMatch ncbigene:491 semapv:UnspecifiedMatching +OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:812 semapv:UnspecifiedMatching +OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:ATP2A2 semapv:UnspecifiedMatching +OMIM:108740 ATP2A2 skos:exactMatch ncbigene:488 semapv:UnspecifiedMatching +OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:855 semapv:UnspecifiedMatching +OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:ATP6V0C semapv:UnspecifiedMatching +OMIM:108745 ATP6V0C skos:exactMatch ncbigene:527 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C1412677 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:857 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:ATP6V1E1 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch ncbigene:529 semapv:UnspecifiedMatching +OMIM:108760 atresia of external auditory canal and conductive deafness skos:exactMatch MONDO:0007170 semapv:UnspecifiedMatching +OMIM:108770 atrial standstill 1 skos:exactMatch MONDO:0007171 semapv:UnspecifiedMatching +OMIM:108780 NPPA skos:exactMatch hgnc.symbol:7939 semapv:UnspecifiedMatching +OMIM:108780 NPPA skos:exactMatch hgnc.symbol:NPPA semapv:UnspecifiedMatching +OMIM:108780 NPPA skos:exactMatch ncbigene:4878 semapv:UnspecifiedMatching +OMIM:108800 atrial septal defect 1 skos:exactMatch MONDO:0007172 semapv:UnspecifiedMatching +OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects skos:exactMatch MONDO:0007173 semapv:UnspecifiedMatching +OMIM:108950 atrial tachyarrhythmia with short pr interval skos:exactMatch MONDO:0007174 semapv:UnspecifiedMatching +OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:7943 semapv:UnspecifiedMatching +OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:NPR1 semapv:UnspecifiedMatching +OMIM:108960 NPR1 skos:exactMatch ncbigene:4881 semapv:UnspecifiedMatching +OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:7944 semapv:UnspecifiedMatching +OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:NPR2 semapv:UnspecifiedMatching +OMIM:108961 NPR2 skos:exactMatch ncbigene:4882 semapv:UnspecifiedMatching +OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:7945 semapv:UnspecifiedMatching +OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:NPR3 semapv:UnspecifiedMatching +OMIM:108962 NPR3 skos:exactMatch ncbigene:4883 semapv:UnspecifiedMatching +OMIM:108980 pr interval, variation 1n skos:exactMatch MONDO:0007175 semapv:UnspecifiedMatching +OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch MONDO:0007176 semapv:UnspecifiedMatching +OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching +OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching +OMIM:108990 attached cell antigen 28.3.7 skos:exactMatch UMLS:C1417160 semapv:UnspecifiedMatching +OMIM:109000 auriculoosteodysplasia skos:exactMatch MONDO:0007177 semapv:UnspecifiedMatching +OMIM:109050 aurocephalosyndactyly skos:exactMatch MONDO:0007178 semapv:UnspecifiedMatching +OMIM:109090 SSB skos:exactMatch hgnc.symbol:11316 semapv:UnspecifiedMatching +OMIM:109090 SSB skos:exactMatch hgnc.symbol:SSB semapv:UnspecifiedMatching +OMIM:109090 SSB skos:exactMatch ncbigene:6741 semapv:UnspecifiedMatching +OMIM:109091 CALR skos:exactMatch hgnc.symbol:1455 semapv:UnspecifiedMatching +OMIM:109091 CALR skos:exactMatch hgnc.symbol:CALR semapv:UnspecifiedMatching +OMIM:109091 CALR skos:exactMatch ncbigene:811 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch UMLS:C1540056 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:11312 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:TRIM21 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch ncbigene:6737 semapv:UnspecifiedMatching +OMIM:109100 autoimmune disease skos:exactMatch MONDO:0007179 semapv:UnspecifiedMatching +OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch MONDO:0007180 semapv:UnspecifiedMatching +OMIM:109130 axial osteomalacia skos:exactMatch MONDO:0007181 semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch UMLS:C0812237 semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch hgnc.symbol:905 semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch hgnc.symbol:AXL semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch ncbigene:558 semapv:UnspecifiedMatching +OMIM:109150 machado-joseph disease skos:exactMatch MONDO:0007182 semapv:UnspecifiedMatching +OMIM:109160 azotemia, familial skos:exactMatch MONDO:0007183 semapv:UnspecifiedMatching +OMIM:109170 LST1 skos:exactMatch hgnc.symbol:14189 semapv:UnspecifiedMatching +OMIM:109170 LST1 skos:exactMatch hgnc.symbol:LST1 semapv:UnspecifiedMatching +OMIM:109170 LST1 skos:exactMatch ncbigene:7940 semapv:UnspecifiedMatching +OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:10943 semapv:UnspecifiedMatching +OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:SLC1A5 semapv:UnspecifiedMatching +OMIM:109190 SLC1A5 skos:exactMatch ncbigene:6510 semapv:UnspecifiedMatching +OMIM:109195 BPI skos:exactMatch hgnc.symbol:1095 semapv:UnspecifiedMatching +OMIM:109195 BPI skos:exactMatch hgnc.symbol:BPI semapv:UnspecifiedMatching +OMIM:109195 BPI skos:exactMatch ncbigene:671 semapv:UnspecifiedMatching +OMIM:109200 alopecia, androgenetic, 1 skos:exactMatch MONDO:0007184 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1420193 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1832168 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862190 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862191 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1862322 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969039 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1969379 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C3892933 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015889 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015890 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015891 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015892 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015893 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015894 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015895 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015896 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015897 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015899 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015900 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015901 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015902 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015903 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4015904 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225456 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225644 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225645 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225646 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:11027 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:SLC4A1 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch ncbigene:6521 semapv:UnspecifiedMatching +OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:11028 semapv:UnspecifiedMatching +OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:SLC4A2 semapv:UnspecifiedMatching +OMIM:109280 SLC4A2 skos:exactMatch ncbigene:6522 semapv:UnspecifiedMatching +OMIM:109300 banki syndrome skos:exactMatch MONDO:0007185 semapv:UnspecifiedMatching +OMIM:109350 gastroesophageal reflux skos:exactMatch MONDO:0007186 semapv:UnspecifiedMatching +OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch MONDO:0958174 semapv:UnspecifiedMatching +OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching +OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching +OMIM:109480 BSG skos:exactMatch hgnc.symbol:1116 semapv:UnspecifiedMatching +OMIM:109480 BSG skos:exactMatch hgnc.symbol:BSG semapv:UnspecifiedMatching +OMIM:109480 BSG skos:exactMatch ncbigene:682 semapv:UnspecifiedMatching +OMIM:109500 basilar impression, primary skos:exactMatch MONDO:0007188 semapv:UnspecifiedMatching +OMIM:109530 CD48 skos:exactMatch hgnc.symbol:1683 semapv:UnspecifiedMatching +OMIM:109530 CD48 skos:exactMatch hgnc.symbol:CD48 semapv:UnspecifiedMatching +OMIM:109530 CD48 skos:exactMatch ncbigene:962 semapv:UnspecifiedMatching +OMIM:109535 CD40 skos:exactMatch hgnc.symbol:11919 semapv:UnspecifiedMatching +OMIM:109535 CD40 skos:exactMatch hgnc.symbol:CD40 semapv:UnspecifiedMatching +OMIM:109535 CD40 skos:exactMatch ncbigene:958 semapv:UnspecifiedMatching +OMIM:109540 b-cell growth factor skos:exactMatch MONDO:0007189 semapv:UnspecifiedMatching +OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch MONDO:0007190 semapv:UnspecifiedMatching +OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:11913 semapv:UnspecifiedMatching +OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:TNFRSF17 semapv:UnspecifiedMatching +OMIM:109545 TNFRSF17 skos:exactMatch ncbigene:608 semapv:UnspecifiedMatching +OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:998 semapv:UnspecifiedMatching +OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:BCL3 semapv:UnspecifiedMatching +OMIM:109560 BCL3 skos:exactMatch ncbigene:602 semapv:UnspecifiedMatching +OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:1001 semapv:UnspecifiedMatching +OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:BCL6 semapv:UnspecifiedMatching +OMIM:109565 BCL6 skos:exactMatch ncbigene:604 semapv:UnspecifiedMatching +OMIM:109580 BTG1 skos:exactMatch UMLS:C1439347 semapv:UnspecifiedMatching +OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:1130 semapv:UnspecifiedMatching +OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:BTG1 semapv:UnspecifiedMatching +OMIM:109580 BTG1 skos:exactMatch ncbigene:694 semapv:UnspecifiedMatching +OMIM:109600 beeturia skos:exactMatch MONDO:0044218 semapv:UnspecifiedMatching +OMIM:109610 TSPO skos:exactMatch hgnc.symbol:1158 semapv:UnspecifiedMatching +OMIM:109610 TSPO skos:exactMatch hgnc.symbol:TSPO semapv:UnspecifiedMatching +OMIM:109610 TSPO skos:exactMatch ncbigene:706 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch UMLS:C1439273 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch UMLS:C1821417 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch UMLS:C2676080 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:285 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:ADRB1 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch ncbigene:153 semapv:UnspecifiedMatching +OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:289 semapv:UnspecifiedMatching +OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:GRK2 semapv:UnspecifiedMatching +OMIM:109635 GRK2 skos:exactMatch ncbigene:156 semapv:UnspecifiedMatching +OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:290 semapv:UnspecifiedMatching +OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:GRK3 semapv:UnspecifiedMatching +OMIM:109636 ADRBK2 skos:exactMatch ncbigene:157 semapv:UnspecifiedMatching +OMIM:109640 beta-glycerol phosphatase skos:exactMatch UMLS:C1415192 semapv:UnspecifiedMatching +OMIM:109650 Behcet syndrome skos:exactMatch MONDO:0007191 semapv:UnspecifiedMatching +OMIM:109660 beta-amino acids, renal transport of skos:exactMatch MONDO:0007192 semapv:UnspecifiedMatching +OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:10860 semapv:UnspecifiedMatching +OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:ST6GAL1 semapv:UnspecifiedMatching +OMIM:109675 ST6GAL1 skos:exactMatch ncbigene:6480 semapv:UnspecifiedMatching +OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:5210 semapv:UnspecifiedMatching +OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:HSD17B1 semapv:UnspecifiedMatching +OMIM:109684 HSD17B1 skos:exactMatch ncbigene:3292 semapv:UnspecifiedMatching +OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:5211 semapv:UnspecifiedMatching +OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:HSD17B2 semapv:UnspecifiedMatching +OMIM:109685 HSD17B2 skos:exactMatch ncbigene:3294 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch UMLS:C1367657 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch UMLS:C1862282 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch UMLS:C3835585 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch UMLS:C5193154 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:286 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:ADRB2 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch ncbigene:154 semapv:UnspecifiedMatching +OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:288 semapv:UnspecifiedMatching +OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:ADRB3 semapv:UnspecifiedMatching +OMIM:109691 ADRB3 skos:exactMatch ncbigene:155 semapv:UnspecifiedMatching +OMIM:109700 B2M skos:exactMatch hgnc.symbol:914 semapv:UnspecifiedMatching +OMIM:109700 B2M skos:exactMatch hgnc.symbol:B2M semapv:UnspecifiedMatching +OMIM:109700 B2M skos:exactMatch ncbigene:567 semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch UMLS:C1412710 semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch hgnc.symbol:915 semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch hgnc.symbol:B2MR semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch ncbigene:568 semapv:UnspecifiedMatching +OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:5217 semapv:UnspecifiedMatching +OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:HSD3B1 semapv:UnspecifiedMatching +OMIM:109715 HSD3B1 skos:exactMatch ncbigene:3283 semapv:UnspecifiedMatching +OMIM:109720 biliary cirrhosis, primary, 1 skos:exactMatch MONDO:0007193 semapv:UnspecifiedMatching +OMIM:109730 aortic valve disease 1 skos:exactMatch MONDO:0024523 semapv:UnspecifiedMatching +OMIM:109740 bifid nose, autosomal dominant skos:exactMatch MONDO:0007195 semapv:UnspecifiedMatching +OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:1062 semapv:UnspecifiedMatching +OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:BLVRA semapv:UnspecifiedMatching +OMIM:109750 BLVRA skos:exactMatch ncbigene:644 semapv:UnspecifiedMatching +OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:5286 semapv:UnspecifiedMatching +OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:HTR1A semapv:UnspecifiedMatching +OMIM:109760 HTR1A skos:exactMatch ncbigene:3350 semapv:UnspecifiedMatching +OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:1814 semapv:UnspecifiedMatching +OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:CEACAM1 semapv:UnspecifiedMatching +OMIM:109770 CEACAM1 skos:exactMatch ncbigene:634 semapv:UnspecifiedMatching +OMIM:109780 bkm DNA skos:exactMatch UMLS:C1862276 semapv:UnspecifiedMatching +OMIM:109800 bladder cancer skos:exactMatch MONDO:0001187 semapv:UnspecifiedMatching +OMIM:109800 bladder cancer skos:exactMatch UMLS:C0005684 semapv:UnspecifiedMatching +OMIM:109820 bladder diverticulum skos:exactMatch MONDO:0007197 semapv:UnspecifiedMatching +OMIM:109900 blepharochalasis and double 51p skos:exactMatch MONDO:0007198 semapv:UnspecifiedMatching +OMIM:110000 blepharochalasis, superior skos:exactMatch MONDO:0007199 semapv:UnspecifiedMatching +OMIM:110050 blepharonasofacial malformation syndrome skos:exactMatch MONDO:0007200 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch MONDO:0007201 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch UMLS:C0220663 semapv:UnspecifiedMatching +OMIM:110150 blepharoptosis, myopia, and ectopia lentis skos:exactMatch MONDO:0007202 semapv:UnspecifiedMatching +OMIM:110300 ABO skos:exactMatch hgnc.symbol:79 semapv:UnspecifiedMatching +OMIM:110300 ABO skos:exactMatch hgnc.symbol:ABO semapv:UnspecifiedMatching +OMIM:110300 ABO skos:exactMatch ncbigene:28 semapv:UnspecifiedMatching +OMIM:110350 blood group--ahonen skos:exactMatch MONDO:0020608 semapv:UnspecifiedMatching +OMIM:110450 blood group, colton system skos:exactMatch MONDO:0020609 semapv:UnspecifiedMatching +OMIM:110500 blood group, diego system skos:exactMatch MONDO:0020610 semapv:UnspecifiedMatching +OMIM:110600 ART4 skos:exactMatch hgnc.symbol:726 semapv:UnspecifiedMatching +OMIM:110600 ART4 skos:exactMatch hgnc.symbol:ART4 semapv:UnspecifiedMatching +OMIM:110600 ART4 skos:exactMatch ncbigene:420 semapv:UnspecifiedMatching +OMIM:110700 blood group, duffy system skos:exactMatch MONDO:0044219 semapv:UnspecifiedMatching +OMIM:110750 GYPC skos:exactMatch hgnc.symbol:4704 semapv:UnspecifiedMatching +OMIM:110750 GYPC skos:exactMatch hgnc.symbol:GYPC semapv:UnspecifiedMatching +OMIM:110750 GYPC skos:exactMatch ncbigene:2995 semapv:UnspecifiedMatching +OMIM:110800 blood group, 1 system skos:exactMatch MONDO:0044220 semapv:UnspecifiedMatching +OMIM:110900 blood group--kell system skos:exactMatch MONDO:0020611 semapv:UnspecifiedMatching +OMIM:111000 blood group, kidd system skos:exactMatch MONDO:0020612 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch UMLS:C1414864 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch UMLS:C4015916 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:4014 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:FUT3 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch ncbigene:2525 semapv:UnspecifiedMatching +OMIM:111130 blood group--lke skos:exactMatch MONDO:0020613 semapv:UnspecifiedMatching +OMIM:111150 blood group--lutheran inhibitor skos:exactMatch MONDO:0044221 semapv:UnspecifiedMatching +OMIM:111200 blood group--lutheran system skos:exactMatch MONDO:0020614 semapv:UnspecifiedMatching +OMIM:111250 blood group system, landsteiner-wiener skos:exactMatch MONDO:0020615 semapv:UnspecifiedMatching +OMIM:111300 blood group, mn skos:exactMatch MONDO:0020616 semapv:UnspecifiedMatching +OMIM:111300 blood group, mn skos:exactMatch UMLS:C0026327 semapv:UnspecifiedMatching +OMIM:111380 blood group--ok skos:exactMatch MONDO:0020617 semapv:UnspecifiedMatching +OMIM:111400 blood group, p1pk system skos:exactMatch MONDO:0044222 semapv:UnspecifiedMatching +OMIM:111400 blood group, p1pk system skos:exactMatch UMLS:C3549485 semapv:UnspecifiedMatching +OMIM:111500 blood group--private systems skos:exactMatch MONDO:0020618 semapv:UnspecifiedMatching +OMIM:111600 blood group, langereis system skos:exactMatch MONDO:0020619 semapv:UnspecifiedMatching +OMIM:111620 radin blood group antigen skos:exactMatch MONDO:0044223 semapv:UnspecifiedMatching +OMIM:111680 RHD skos:exactMatch hgnc.symbol:10009 semapv:UnspecifiedMatching +OMIM:111680 RHD skos:exactMatch hgnc.symbol:RHD semapv:UnspecifiedMatching +OMIM:111680 RHD skos:exactMatch ncbigene:6007 semapv:UnspecifiedMatching +OMIM:111700 RHCE skos:exactMatch hgnc.symbol:10008 semapv:UnspecifiedMatching +OMIM:111700 RHCE skos:exactMatch hgnc.symbol:RHCE semapv:UnspecifiedMatching +OMIM:111700 RHCE skos:exactMatch ncbigene:6006 semapv:UnspecifiedMatching +OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:24136 semapv:UnspecifiedMatching +OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:B4GALNT2 semapv:UnspecifiedMatching +OMIM:111730 B4GALNT2 skos:exactMatch ncbigene:124872 semapv:UnspecifiedMatching +OMIM:111740 blood group, ss skos:exactMatch MONDO:0020620 semapv:UnspecifiedMatching +OMIM:111750 blood group--scianna system skos:exactMatch MONDO:0020621 semapv:UnspecifiedMatching +OMIM:111800 blood group--stoltzfus system skos:exactMatch MONDO:0020622 semapv:UnspecifiedMatching +OMIM:112000 blood group--ul system skos:exactMatch MONDO:0020623 semapv:UnspecifiedMatching +OMIM:112010 blood group--waldner iia skos:exactMatch MONDO:0020624 semapv:UnspecifiedMatching +OMIM:112050 blood group--wright antigen skos:exactMatch MONDO:0020625 semapv:UnspecifiedMatching +OMIM:112100 yt blood group antigen skos:exactMatch MONDO:0020626 semapv:UnspecifiedMatching +OMIM:112200 blue rubber bleb nevus skos:exactMatch MONDO:0007203 semapv:UnspecifiedMatching +OMIM:112203 CD80 skos:exactMatch hgnc.symbol:1700 semapv:UnspecifiedMatching +OMIM:112203 CD80 skos:exactMatch hgnc.symbol:CD80 semapv:UnspecifiedMatching +OMIM:112203 CD80 skos:exactMatch ncbigene:941 semapv:UnspecifiedMatching +OMIM:112205 CD79A skos:exactMatch hgnc.symbol:1698 semapv:UnspecifiedMatching +OMIM:112205 CD79A skos:exactMatch hgnc.symbol:CD79A semapv:UnspecifiedMatching +OMIM:112205 CD79A skos:exactMatch ncbigene:973 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch UMLS:C1417326 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:7315 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:MS4A1 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch ncbigene:931 semapv:UnspecifiedMatching +OMIM:112240 cole-carpenter syndrome 1 skos:exactMatch MONDO:0007204 semapv:UnspecifiedMatching +OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch MONDO:0007205 semapv:UnspecifiedMatching +OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch Orphanet:85182 semapv:UnspecifiedMatching +OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch UMLS:C1862177 semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch UMLS:C1412791 semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:1043 semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:BGLAP semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch ncbigene:632 semapv:UnspecifiedMatching +OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:1069 semapv:UnspecifiedMatching +OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:BMP2 semapv:UnspecifiedMatching +OMIM:112261 BMP2 skos:exactMatch ncbigene:650 semapv:UnspecifiedMatching +OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:1071 semapv:UnspecifiedMatching +OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:BMP4 semapv:UnspecifiedMatching +OMIM:112262 BMP4 skos:exactMatch ncbigene:652 semapv:UnspecifiedMatching +OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:1070 semapv:UnspecifiedMatching +OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:BMP3 semapv:UnspecifiedMatching +OMIM:112263 BMP3 skos:exactMatch ncbigene:651 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch UMLS:C1412804 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch UMLS:C3553887 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:1067 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:BMP1 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch ncbigene:649 semapv:UnspecifiedMatching +OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:1072 semapv:UnspecifiedMatching +OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:BMP5 semapv:UnspecifiedMatching +OMIM:112265 BMP5 skos:exactMatch ncbigene:653 semapv:UnspecifiedMatching +OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:1073 semapv:UnspecifiedMatching +OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:BMP6 semapv:UnspecifiedMatching +OMIM:112266 BMP6 skos:exactMatch ncbigene:654 semapv:UnspecifiedMatching +OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:1074 semapv:UnspecifiedMatching +OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:BMP7 semapv:UnspecifiedMatching +OMIM:112267 BMP7 skos:exactMatch ncbigene:655 semapv:UnspecifiedMatching +OMIM:112270 bone pain, periodic skos:exactMatch MONDO:0007206 semapv:UnspecifiedMatching +OMIM:112300 book syndrome skos:exactMatch MONDO:0007207 semapv:UnspecifiedMatching +OMIM:112310 boomerang dysplasia skos:exactMatch MONDO:0007208 semapv:UnspecifiedMatching +OMIM:112310 boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching +OMIM:112310 boomerang dysplasia skos:exactMatch UMLS:C0432201 semapv:UnspecifiedMatching +OMIM:112350 weismann-netter syndrome skos:exactMatch MONDO:0007209 semapv:UnspecifiedMatching +OMIM:112370 brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch MONDO:0007210 semapv:UnspecifiedMatching +OMIM:112410 hypertension and brachydactyly syndrome skos:exactMatch MONDO:0007211 semapv:UnspecifiedMatching +OMIM:112430 long-thumb brachydactyly syndrome skos:exactMatch MONDO:0007212 semapv:UnspecifiedMatching +OMIM:112440 brachydactyly, combined B and e types skos:exactMatch MONDO:0007213 semapv:UnspecifiedMatching +OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction skos:exactMatch MONDO:0007214 semapv:UnspecifiedMatching +OMIM:112500 brachydactyly, iia a1 skos:exactMatch MONDO:0007215 semapv:UnspecifiedMatching +OMIM:112600 brachydactyly, iia a2 skos:exactMatch MONDO:0007216 semapv:UnspecifiedMatching +OMIM:112700 brachydactyly, iia a3 skos:exactMatch MONDO:0007217 semapv:UnspecifiedMatching +OMIM:112800 brachydactyly, iia a4 skos:exactMatch MONDO:0007218 semapv:UnspecifiedMatching +OMIM:112910 osebold-remondini syndrome skos:exactMatch MONDO:0007219 semapv:UnspecifiedMatching +OMIM:113000 brachydactyly, iia b1 skos:exactMatch MONDO:0007220 semapv:UnspecifiedMatching +OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:572385 semapv:UnspecifiedMatching +OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching +OMIM:113000 brachydactyly, iia b1 skos:exactMatch UMLS:C1862112 semapv:UnspecifiedMatching +OMIM:113100 brachydactyly, iia c skos:exactMatch MONDO:0007221 semapv:UnspecifiedMatching +OMIM:113100 brachydactyly, iia c skos:exactMatch Orphanet:93384 semapv:UnspecifiedMatching +OMIM:113100 brachydactyly, iia c skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching +OMIM:113200 brachydactyly, iia d skos:exactMatch MONDO:0007222 semapv:UnspecifiedMatching +OMIM:113200 brachydactyly, iia d skos:exactMatch UMLS:C0220664 semapv:UnspecifiedMatching +OMIM:113300 brachydactyly, iia e1 skos:exactMatch MONDO:0007223 semapv:UnspecifiedMatching +OMIM:113300 brachydactyly, iia e1 skos:exactMatch Orphanet:93387 semapv:UnspecifiedMatching +OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C1862102 semapv:UnspecifiedMatching +OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C4315392 semapv:UnspecifiedMatching +OMIM:113301 brachydactyly, iia e, with atrial septal defect, iia 2 skos:exactMatch MONDO:0007224 semapv:UnspecifiedMatching +OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia skos:exactMatch MONDO:0007225 semapv:UnspecifiedMatching +OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia skos:exactMatch MONDO:0007226 semapv:UnspecifiedMatching +OMIM:113450 brachydactyly-distal symphalangism syndrome skos:exactMatch MONDO:0007227 semapv:UnspecifiedMatching +OMIM:113470 brachymesomelia-renal syndrome skos:exactMatch MONDO:0007228 semapv:UnspecifiedMatching +OMIM:113475 brachymetatarsus 4 skos:exactMatch MONDO:0007229 semapv:UnspecifiedMatching +OMIM:113477 brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch MONDO:0007230 semapv:UnspecifiedMatching +OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome skos:exactMatch MONDO:0007231 semapv:UnspecifiedMatching +OMIM:113500 brachyolmia iia 3 skos:exactMatch MONDO:0007232 semapv:UnspecifiedMatching +OMIM:113500 brachyolmia iia 3 skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching +OMIM:113500 brachyolmia iia 3 skos:exactMatch UMLS:C0432227 semapv:UnspecifiedMatching +OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:1030 semapv:UnspecifiedMatching +OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:BDKRB2 semapv:UnspecifiedMatching +OMIM:113503 BDKRB2 skos:exactMatch ncbigene:624 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch UMLS:C1332408 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch UMLS:C4694116 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch hgnc.symbol:1033 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch hgnc.symbol:BDNF semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch ncbigene:627 semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch UMLS:C1421562 semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:12853 semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:YWHAH semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch ncbigene:7533 semapv:UnspecifiedMatching +OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:976 semapv:UnspecifiedMatching +OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:BCAT1 semapv:UnspecifiedMatching +OMIM:113520 BCAT1 skos:exactMatch ncbigene:586 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch UMLS:C1412752 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:977 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:BCAT2 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch ncbigene:587 semapv:UnspecifiedMatching +OMIM:113600 branchial cleft anomalies skos:exactMatch MONDO:0007233 semapv:UnspecifiedMatching +OMIM:113610 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch MONDO:0007234 semapv:UnspecifiedMatching +OMIM:113620 branchiooculofacial syndrome skos:exactMatch MONDO:0007235 semapv:UnspecifiedMatching +OMIM:113650 branchiootorenal syndrome 1 skos:exactMatch MONDO:0007236 semapv:UnspecifiedMatching +OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch MONDO:0007237 semapv:UnspecifiedMatching +OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch Orphanet:180176 semapv:UnspecifiedMatching +OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch UMLS:C0405471 semapv:UnspecifiedMatching +OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:exactMatch MONDO:0100490 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch UMLS:C1335636 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:10303 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:RPL13 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch ncbigene:6137 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C0376571 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C2676676 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C3280442 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C3469525 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch UMLS:C4554406 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:1100 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:BRCA1 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch ncbigene:672 semapv:UnspecifiedMatching +OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:11755 semapv:UnspecifiedMatching +OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:TFF1 semapv:UnspecifiedMatching +OMIM:113710 TFF1 skos:exactMatch ncbigene:7031 semapv:UnspecifiedMatching +OMIM:113725 POU4F2 skos:exactMatch UMLS:C1418766 semapv:UnspecifiedMatching +OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:9219 semapv:UnspecifiedMatching +OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:POU4F2 semapv:UnspecifiedMatching +OMIM:113725 POU4F2 skos:exactMatch ncbigene:5458 semapv:UnspecifiedMatching +OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:12517 semapv:UnspecifiedMatching +OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:UCP1 semapv:UnspecifiedMatching +OMIM:113730 UCP1 skos:exactMatch ncbigene:7350 semapv:UnspecifiedMatching +OMIM:113750 albinism, oculocutaneous, iia 6 skos:exactMatch MONDO:0018264 semapv:UnspecifiedMatching +OMIM:113800 epidermolytic hyperkeratosis 1 skos:exactMatch MONDO:0007239 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch UMLS:C1539312 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch hgnc.symbol:1090 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch hgnc.symbol:DST semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch ncbigene:667 semapv:UnspecifiedMatching +OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:2194 semapv:UnspecifiedMatching +OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:COL17A1 semapv:UnspecifiedMatching +OMIM:113811 COL17A1 skos:exactMatch ncbigene:1308 semapv:UnspecifiedMatching +OMIM:113900 progressive familial heart block, iia 1a skos:exactMatch MONDO:0007240 semapv:UnspecifiedMatching +OMIM:113950 bundle branch block, familial isolated complete right skos:exactMatch MONDO:0007241 semapv:UnspecifiedMatching +OMIM:113955 bungarotoxin, alpha, receptor for skos:exactMatch UMLS:C3888101 semapv:UnspecifiedMatching +OMIM:113960 butyrylesterase 1 skos:exactMatch MONDO:0007242 semapv:UnspecifiedMatching +OMIM:113970 burkitt lymphoma skos:exactMatch MONDO:0007243 semapv:UnspecifiedMatching +OMIM:113970 burkitt lymphoma skos:exactMatch Orphanet:543 semapv:UnspecifiedMatching +OMIM:113970 burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching +OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:1338 semapv:UnspecifiedMatching +OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:C5AR1 semapv:UnspecifiedMatching +OMIM:113995 C5AR1 skos:exactMatch ncbigene:728 semapv:UnspecifiedMatching +OMIM:114000 caffey disease skos:exactMatch MONDO:0007244 semapv:UnspecifiedMatching +OMIM:114000 caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching +OMIM:114000 caffey disease skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch UMLS:C1413078 semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch hgnc.symbol:1424 semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch hgnc.symbol:CAD semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch ncbigene:790 semapv:UnspecifiedMatching +OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:1754 semapv:UnspecifiedMatching +OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:CDH15 semapv:UnspecifiedMatching +OMIM:114019 CDH15 skos:exactMatch ncbigene:1013 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch UMLS:C1413277 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:1759 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:CDH2 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch ncbigene:1000 semapv:UnspecifiedMatching +OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:1762 semapv:UnspecifiedMatching +OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:CDH3 semapv:UnspecifiedMatching +OMIM:114021 CDH3 skos:exactMatch ncbigene:1001 semapv:UnspecifiedMatching +OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:2510 semapv:UnspecifiedMatching +OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:CTNNA2 semapv:UnspecifiedMatching +OMIM:114025 CTNNA2 skos:exactMatch ncbigene:1496 semapv:UnspecifiedMatching +OMIM:114030 cafe-au-lait spots, multiple skos:exactMatch MONDO:0007245 semapv:UnspecifiedMatching +OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:1434 semapv:UnspecifiedMatching +OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:CALB1 semapv:UnspecifiedMatching +OMIM:114050 CALB1 skos:exactMatch ncbigene:793 semapv:UnspecifiedMatching +OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:1435 semapv:UnspecifiedMatching +OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:CALB2 semapv:UnspecifiedMatching +OMIM:114051 CALB2 skos:exactMatch ncbigene:794 semapv:UnspecifiedMatching +OMIM:114065 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch MONDO:0007246 semapv:UnspecifiedMatching +OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:544 semapv:UnspecifiedMatching +OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:ANXA6 semapv:UnspecifiedMatching +OMIM:114070 ANXA6 skos:exactMatch ncbigene:309 semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch UMLS:C1413099 semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch UMLS:C4540481 semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch UMLS:C4748167 semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:1460 semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:CAMK2A semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch ncbigene:815 semapv:UnspecifiedMatching +OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:1464 semapv:UnspecifiedMatching +OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:CAMK4 semapv:UnspecifiedMatching +OMIM:114080 CAMK4 skos:exactMatch ncbigene:814 semapv:UnspecifiedMatching +OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:10487 semapv:UnspecifiedMatching +OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:S100A10 semapv:UnspecifiedMatching +OMIM:114085 S100A10 skos:exactMatch ncbigene:6281 semapv:UnspecifiedMatching +OMIM:114090 CAST skos:exactMatch hgnc.symbol:1515 semapv:UnspecifiedMatching +OMIM:114090 CAST skos:exactMatch hgnc.symbol:CAST semapv:UnspecifiedMatching +OMIM:114090 CAST skos:exactMatch ncbigene:831 semapv:UnspecifiedMatching +OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch MONDO:0007247 semapv:UnspecifiedMatching +OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:9314 semapv:UnspecifiedMatching +OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:PPP3CA semapv:UnspecifiedMatching +OMIM:114105 PPP3CA skos:exactMatch ncbigene:5530 semapv:UnspecifiedMatching +OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:9315 semapv:UnspecifiedMatching +OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:PPP3CB semapv:UnspecifiedMatching +OMIM:114106 PPP3CB skos:exactMatch ncbigene:5532 semapv:UnspecifiedMatching +OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:9316 semapv:UnspecifiedMatching +OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:PPP3CC semapv:UnspecifiedMatching +OMIM:114107 PPP3CC skos:exactMatch ncbigene:5533 semapv:UnspecifiedMatching +OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:10496 semapv:UnspecifiedMatching +OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:S100A6 semapv:UnspecifiedMatching +OMIM:114110 S100A6 skos:exactMatch ncbigene:6277 semapv:UnspecifiedMatching +OMIM:114130 CALCA skos:exactMatch hgnc.symbol:1437 semapv:UnspecifiedMatching +OMIM:114130 CALCA skos:exactMatch hgnc.symbol:CALCA semapv:UnspecifiedMatching +OMIM:114130 CALCA skos:exactMatch ncbigene:796 semapv:UnspecifiedMatching +OMIM:114131 CALCR skos:exactMatch hgnc.symbol:1440 semapv:UnspecifiedMatching +OMIM:114131 CALCR skos:exactMatch hgnc.symbol:CALCR semapv:UnspecifiedMatching +OMIM:114131 CALCR skos:exactMatch ncbigene:799 semapv:UnspecifiedMatching +OMIM:114140 callosities, hereditary painful skos:exactMatch MONDO:0007248 semapv:UnspecifiedMatching +OMIM:114150 camptobrachydactyly skos:exactMatch MONDO:0007249 semapv:UnspecifiedMatching +OMIM:114160 CALCB skos:exactMatch hgnc.symbol:1438 semapv:UnspecifiedMatching +OMIM:114160 CALCB skos:exactMatch hgnc.symbol:CALCB semapv:UnspecifiedMatching +OMIM:114160 CALCB skos:exactMatch ncbigene:797 semapv:UnspecifiedMatching +OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:1481 semapv:UnspecifiedMatching +OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:CAPNS1 semapv:UnspecifiedMatching +OMIM:114170 CAPNS1 skos:exactMatch ncbigene:826 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch UMLS:C1332659 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch UMLS:C3554047 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:1442 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:CALM1 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch ncbigene:801 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch UMLS:C1413089 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:1445 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:CALM2 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch ncbigene:805 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch UMLS:C1413093 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:1449 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:CALM3 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch ncbigene:808 semapv:UnspecifiedMatching +OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:1452 semapv:UnspecifiedMatching +OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:CALML3 semapv:UnspecifiedMatching +OMIM:114184 CALML3 skos:exactMatch ncbigene:810 semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch UMLS:C1424497 semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:16709 semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:CALCRL semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch ncbigene:10203 semapv:UnspecifiedMatching +OMIM:114200 camptodactyly 1 skos:exactMatch MONDO:0007250 semapv:UnspecifiedMatching +OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:1399 semapv:UnspecifiedMatching +OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:CACNA2D1 semapv:UnspecifiedMatching +OMIM:114204 CACNA2D1 skos:exactMatch ncbigene:781 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch UMLS:C1413057 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch UMLS:C2678478 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:1390 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:CACNA1C semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch ncbigene:775 semapv:UnspecifiedMatching +OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:1391 semapv:UnspecifiedMatching +OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:CACNA1D semapv:UnspecifiedMatching +OMIM:114206 CACNA1D skos:exactMatch ncbigene:776 semapv:UnspecifiedMatching +OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:1401 semapv:UnspecifiedMatching +OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:CACNB1 semapv:UnspecifiedMatching +OMIM:114207 CACNB1 skos:exactMatch ncbigene:782 semapv:UnspecifiedMatching +OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:1397 semapv:UnspecifiedMatching +OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:CACNA1S semapv:UnspecifiedMatching +OMIM:114208 CACNA1S skos:exactMatch ncbigene:779 semapv:UnspecifiedMatching +OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:1405 semapv:UnspecifiedMatching +OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:CACNG1 semapv:UnspecifiedMatching +OMIM:114209 CACNG1 skos:exactMatch ncbigene:786 semapv:UnspecifiedMatching +OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:10494 semapv:UnspecifiedMatching +OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:S100A4 semapv:UnspecifiedMatching +OMIM:114210 S100A4 skos:exactMatch ncbigene:6275 semapv:UnspecifiedMatching +OMIM:114212 CAPS skos:exactMatch hgnc.symbol:1487 semapv:UnspecifiedMatching +OMIM:114212 CAPS skos:exactMatch hgnc.symbol:CAPS semapv:UnspecifiedMatching +OMIM:114212 CAPS skos:exactMatch ncbigene:828 semapv:UnspecifiedMatching +OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:1441 semapv:UnspecifiedMatching +OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:CALD1 semapv:UnspecifiedMatching +OMIM:114213 CALD1 skos:exactMatch ncbigene:800 semapv:UnspecifiedMatching +OMIM:114217 CANX skos:exactMatch hgnc.symbol:1473 semapv:UnspecifiedMatching +OMIM:114217 CANX skos:exactMatch hgnc.symbol:CANX semapv:UnspecifiedMatching +OMIM:114217 CANX skos:exactMatch ncbigene:821 semapv:UnspecifiedMatching +OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:1476 semapv:UnspecifiedMatching +OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:CAPN1 semapv:UnspecifiedMatching +OMIM:114220 CAPN1 skos:exactMatch ncbigene:823 semapv:UnspecifiedMatching +OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:1479 semapv:UnspecifiedMatching +OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:CAPN2 semapv:UnspecifiedMatching +OMIM:114230 CAPN2 skos:exactMatch ncbigene:824 semapv:UnspecifiedMatching +OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:1480 semapv:UnspecifiedMatching +OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:CAPN3 semapv:UnspecifiedMatching +OMIM:114240 CAPN3 skos:exactMatch ncbigene:825 semapv:UnspecifiedMatching +OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:1512 semapv:UnspecifiedMatching +OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:CASQ1 semapv:UnspecifiedMatching +OMIM:114250 CASQ1 skos:exactMatch ncbigene:844 semapv:UnspecifiedMatching +OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:1513 semapv:UnspecifiedMatching +OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:CASQ2 semapv:UnspecifiedMatching +OMIM:114251 CASQ2 skos:exactMatch ncbigene:845 semapv:UnspecifiedMatching +OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:1804 semapv:UnspecifiedMatching +OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:CD52 semapv:UnspecifiedMatching +OMIM:114280 CDW52 skos:exactMatch ncbigene:1043 semapv:UnspecifiedMatching +OMIM:114290 campomelic dysplasia skos:exactMatch MONDO:0007251 semapv:UnspecifiedMatching +OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch MONDO:0007252 semapv:UnspecifiedMatching +OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching +OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch UMLS:C0220666 semapv:UnspecifiedMatching +OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:8064 semapv:UnspecifiedMatching +OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:NUP214 semapv:UnspecifiedMatching +OMIM:114350 NUP214 skos:exactMatch ncbigene:8021 semapv:UnspecifiedMatching +OMIM:114450 cancer, familial, with 1n vitro radioresistance skos:exactMatch MONDO:0007253 semapv:UnspecifiedMatching +OMIM:114480 breast cancer skos:exactMatch MONDO:0016419 semapv:UnspecifiedMatching +OMIM:114480 breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching +OMIM:114480 breast cancer skos:exactMatch UMLS:C0006142 semapv:UnspecifiedMatching +OMIM:114480 breast cancer skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching +OMIM:114500 colorectal cancer skos:exactMatch MONDO:0005575 semapv:UnspecifiedMatching +OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching +OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch MONDO:0007256 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:210159 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C2239176 semapv:UnspecifiedMatching +OMIM:114580 candidiasis, familial, 1 skos:exactMatch MONDO:0007257 semapv:UnspecifiedMatching +OMIM:114600 canine teeth, absence of upper permanent skos:exactMatch MONDO:0007258 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch UMLS:C1413554 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:2159 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:CNR1 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch ncbigene:1268 semapv:UnspecifiedMatching +OMIM:114620 craniofaciofrontodigital syndrome skos:exactMatch MONDO:0007259 semapv:UnspecifiedMatching +OMIM:114650 car factor deficiency skos:exactMatch MONDO:0007260 semapv:UnspecifiedMatching +OMIM:114700 carabelli anomaly of maxillary molar teeth skos:exactMatch MONDO:0007261 semapv:UnspecifiedMatching +OMIM:114750 CA3 skos:exactMatch hgnc.symbol:1374 semapv:UnspecifiedMatching +OMIM:114750 CA3 skos:exactMatch hgnc.symbol:CA3 semapv:UnspecifiedMatching +OMIM:114750 CA3 skos:exactMatch ncbigene:761 semapv:UnspecifiedMatching +OMIM:114760 CA4 skos:exactMatch hgnc.symbol:1375 semapv:UnspecifiedMatching +OMIM:114760 CA4 skos:exactMatch hgnc.symbol:CA4 semapv:UnspecifiedMatching +OMIM:114760 CA4 skos:exactMatch ncbigene:762 semapv:UnspecifiedMatching +OMIM:114761 CA5A skos:exactMatch hgnc.symbol:1377 semapv:UnspecifiedMatching +OMIM:114761 CA5A skos:exactMatch hgnc.symbol:CA5A semapv:UnspecifiedMatching +OMIM:114761 CA5A skos:exactMatch ncbigene:763 semapv:UnspecifiedMatching +OMIM:114770 CA7 skos:exactMatch hgnc.symbol:1381 semapv:UnspecifiedMatching +OMIM:114770 CA7 skos:exactMatch hgnc.symbol:CA7 semapv:UnspecifiedMatching +OMIM:114770 CA7 skos:exactMatch ncbigene:766 semapv:UnspecifiedMatching +OMIM:114780 CA6 skos:exactMatch hgnc.symbol:1380 semapv:UnspecifiedMatching +OMIM:114780 CA6 skos:exactMatch hgnc.symbol:CA6 semapv:UnspecifiedMatching +OMIM:114780 CA6 skos:exactMatch ncbigene:765 semapv:UnspecifiedMatching +OMIM:114800 CA1 skos:exactMatch hgnc.symbol:1368 semapv:UnspecifiedMatching +OMIM:114800 CA1 skos:exactMatch hgnc.symbol:CA1 semapv:UnspecifiedMatching +OMIM:114800 CA1 skos:exactMatch ncbigene:759 semapv:UnspecifiedMatching +OMIM:114815 CA8 skos:exactMatch hgnc.symbol:1382 semapv:UnspecifiedMatching +OMIM:114815 CA8 skos:exactMatch hgnc.symbol:CA8 semapv:UnspecifiedMatching +OMIM:114815 CA8 skos:exactMatch ncbigene:767 semapv:UnspecifiedMatching +OMIM:114830 CBR1 skos:exactMatch UMLS:C1413154 semapv:UnspecifiedMatching +OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:1548 semapv:UnspecifiedMatching +OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:CBR1 semapv:UnspecifiedMatching +OMIM:114830 CBR1 skos:exactMatch ncbigene:873 semapv:UnspecifiedMatching +OMIM:114835 CES1 skos:exactMatch hgnc.symbol:1863 semapv:UnspecifiedMatching +OMIM:114835 CES1 skos:exactMatch hgnc.symbol:CES1 semapv:UnspecifiedMatching +OMIM:114835 CES1 skos:exactMatch ncbigene:1066 semapv:UnspecifiedMatching +OMIM:114840 CEL skos:exactMatch hgnc.symbol:1848 semapv:UnspecifiedMatching +OMIM:114840 CEL skos:exactMatch hgnc.symbol:CEL semapv:UnspecifiedMatching +OMIM:114840 CEL skos:exactMatch ncbigene:1056 semapv:UnspecifiedMatching +OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:2296 semapv:UnspecifiedMatching +OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:CPA1 semapv:UnspecifiedMatching +OMIM:114850 CPA1 skos:exactMatch ncbigene:1357 semapv:UnspecifiedMatching +OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:2298 semapv:UnspecifiedMatching +OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:CPA3 semapv:UnspecifiedMatching +OMIM:114851 CPA3 skos:exactMatch ncbigene:1359 semapv:UnspecifiedMatching +OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:2299 semapv:UnspecifiedMatching +OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:CPB1 semapv:UnspecifiedMatching +OMIM:114852 CPB1 skos:exactMatch ncbigene:1360 semapv:UnspecifiedMatching +OMIM:114855 CPE skos:exactMatch hgnc.symbol:2303 semapv:UnspecifiedMatching +OMIM:114855 CPE skos:exactMatch hgnc.symbol:CPE semapv:UnspecifiedMatching +OMIM:114855 CPE skos:exactMatch ncbigene:1363 semapv:UnspecifiedMatching +OMIM:114860 CPM skos:exactMatch hgnc.symbol:2311 semapv:UnspecifiedMatching +OMIM:114860 CPM skos:exactMatch hgnc.symbol:CPM semapv:UnspecifiedMatching +OMIM:114860 CPM skos:exactMatch ncbigene:1368 semapv:UnspecifiedMatching +OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:1817 semapv:UnspecifiedMatching +OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:CEACAM5 semapv:UnspecifiedMatching +OMIM:114890 CEACAM5 skos:exactMatch ncbigene:1048 semapv:UnspecifiedMatching +OMIM:114900 carcinoid tumors, intestinal skos:exactMatch MONDO:0021533 semapv:UnspecifiedMatching +OMIM:115000 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:exactMatch MONDO:0020745 semapv:UnspecifiedMatching +OMIM:115080 cardiac conduction defect skos:exactMatch MONDO:0100042 semapv:UnspecifiedMatching +OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch MONDO:0007265 semapv:UnspecifiedMatching +OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching +OMIM:115195 cardiomyopathy, familial hypertrophic, 2 skos:exactMatch MONDO:0007266 semapv:UnspecifiedMatching +OMIM:115196 cardiomyopathy, familial hypertrophic, 3 skos:exactMatch MONDO:0007267 semapv:UnspecifiedMatching +OMIM:115197 cardiomyopathy, familial hypertrophic, 4 skos:exactMatch MONDO:0007268 semapv:UnspecifiedMatching +OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch MONDO:0007269 semapv:UnspecifiedMatching +OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:300751 semapv:UnspecifiedMatching +OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching +OMIM:115210 cardiomyopathy, familial restrictive, 1 skos:exactMatch MONDO:0007270 semapv:UnspecifiedMatching +OMIM:115250 collagenoma, familial cutaneous skos:exactMatch MONDO:0007271 semapv:UnspecifiedMatching +OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch MONDO:0007272 semapv:UnspecifiedMatching +OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch Orphanet:199285 semapv:UnspecifiedMatching +OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch UMLS:C2676023 semapv:UnspecifiedMatching +OMIM:115310 pheochromocytoma/paraganglioma syndrome 4 skos:exactMatch MONDO:0007273 semapv:UnspecifiedMatching +OMIM:115400 carpal displacement skos:exactMatch MONDO:0007274 semapv:UnspecifiedMatching +OMIM:115430 carpal tunnel syndrome 1 skos:exactMatch MONDO:0020730 semapv:UnspecifiedMatching +OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:2380 semapv:UnspecifiedMatching +OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:HAPLN1 semapv:UnspecifiedMatching +OMIM:115435 HAPLN1 skos:exactMatch ncbigene:1404 semapv:UnspecifiedMatching +OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:6907 semapv:UnspecifiedMatching +OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:MATN1 semapv:UnspecifiedMatching +OMIM:115437 MATN1 skos:exactMatch ncbigene:4146 semapv:UnspecifiedMatching +OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:2457 semapv:UnspecifiedMatching +OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:CSNK2A1 semapv:UnspecifiedMatching +OMIM:115440 CSNK2A1 skos:exactMatch ncbigene:1457 semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch UMLS:C1413762 semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:2460 semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:CSNK2B semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch ncbigene:1460 semapv:UnspecifiedMatching +OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:2459 semapv:UnspecifiedMatching +OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:CSNK2A2 semapv:UnspecifiedMatching +OMIM:115442 CSNK2A2 skos:exactMatch ncbigene:1459 semapv:UnspecifiedMatching +OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:2445 semapv:UnspecifiedMatching +OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:CSN1S1 semapv:UnspecifiedMatching +OMIM:115450 CSN1 skos:exactMatch ncbigene:1446 semapv:UnspecifiedMatching +OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:2447 semapv:UnspecifiedMatching +OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:CSN2 semapv:UnspecifiedMatching +OMIM:115460 CSN2 skos:exactMatch ncbigene:1447 semapv:UnspecifiedMatching +OMIM:115470 cat eye syndrome skos:exactMatch MONDO:0007276 semapv:UnspecifiedMatching +OMIM:115500 CAT skos:exactMatch hgnc.symbol:1516 semapv:UnspecifiedMatching +OMIM:115500 CAT skos:exactMatch hgnc.symbol:CAT semapv:UnspecifiedMatching +OMIM:115500 CAT skos:exactMatch ncbigene:847 semapv:UnspecifiedMatching +OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:12450 semapv:UnspecifiedMatching +OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:TYRP1 semapv:UnspecifiedMatching +OMIM:115501 TYRP1 skos:exactMatch ncbigene:7306 semapv:UnspecifiedMatching +OMIM:115645 cataract, aberrant oral frenula, and growth retardation skos:exactMatch MONDO:0007277 semapv:UnspecifiedMatching +OMIM:115650 cataract 32, multiple types skos:exactMatch MONDO:0007278 semapv:UnspecifiedMatching +OMIM:115660 cataract 7 skos:exactMatch MONDO:0007279 semapv:UnspecifiedMatching +OMIM:115665 cataract 8, multiple types skos:exactMatch MONDO:0007280 semapv:UnspecifiedMatching +OMIM:115700 cataract 4, multiple types skos:exactMatch MONDO:0007281 semapv:UnspecifiedMatching +OMIM:115800 cataract 29 skos:exactMatch MONDO:0007282 semapv:UnspecifiedMatching +OMIM:115900 cataract 42 skos:exactMatch MONDO:0007283 semapv:UnspecifiedMatching +OMIM:116100 cataract 20, multiple types skos:exactMatch MONDO:0007284 semapv:UnspecifiedMatching +OMIM:116200 cataract 1, multiple types skos:exactMatch MONDO:0007285 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch MONDO:0007286 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98984 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98992 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching +OMIM:116400 cataract 41 skos:exactMatch MONDO:0007287 semapv:UnspecifiedMatching +OMIM:116600 cataract 6, multiple types skos:exactMatch MONDO:0007288 semapv:UnspecifiedMatching +OMIM:116700 cataract 13 with adult i phenotype skos:exactMatch MONDO:0007289 semapv:UnspecifiedMatching +OMIM:116790 COMT skos:exactMatch hgnc.symbol:2228 semapv:UnspecifiedMatching +OMIM:116790 COMT skos:exactMatch hgnc.symbol:COMT semapv:UnspecifiedMatching +OMIM:116790 COMT skos:exactMatch ncbigene:1312 semapv:UnspecifiedMatching +OMIM:116800 cataract 5, multiple types skos:exactMatch MONDO:0007290 semapv:UnspecifiedMatching +OMIM:116800 cataract 5, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C1861821 semapv:UnspecifiedMatching +OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C3888417 semapv:UnspecifiedMatching +OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:2509 semapv:UnspecifiedMatching +OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:CTNNA1 semapv:UnspecifiedMatching +OMIM:116805 CTNNA1 skos:exactMatch ncbigene:1495 semapv:UnspecifiedMatching +OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:2514 semapv:UnspecifiedMatching +OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:CTNNB1 semapv:UnspecifiedMatching +OMIM:116806 CTNNB1 skos:exactMatch ncbigene:1499 semapv:UnspecifiedMatching +OMIM:116810 CTSB skos:exactMatch hgnc.symbol:2527 semapv:UnspecifiedMatching +OMIM:116810 CTSB skos:exactMatch hgnc.symbol:CTSB semapv:UnspecifiedMatching +OMIM:116810 CTSB skos:exactMatch ncbigene:1508 semapv:UnspecifiedMatching +OMIM:116820 CTSH skos:exactMatch hgnc.symbol:2535 semapv:UnspecifiedMatching +OMIM:116820 CTSH skos:exactMatch hgnc.symbol:CTSH semapv:UnspecifiedMatching +OMIM:116820 CTSH skos:exactMatch ncbigene:1512 semapv:UnspecifiedMatching +OMIM:116830 CTSG skos:exactMatch hgnc.symbol:2532 semapv:UnspecifiedMatching +OMIM:116830 CTSG skos:exactMatch hgnc.symbol:CTSG semapv:UnspecifiedMatching +OMIM:116830 CTSG skos:exactMatch ncbigene:1511 semapv:UnspecifiedMatching +OMIM:116831 GZMH skos:exactMatch hgnc.symbol:4710 semapv:UnspecifiedMatching +OMIM:116831 GZMH skos:exactMatch hgnc.symbol:GZMH semapv:UnspecifiedMatching +OMIM:116831 GZMH skos:exactMatch ncbigene:2999 semapv:UnspecifiedMatching +OMIM:116840 CTSD skos:exactMatch hgnc.symbol:2529 semapv:UnspecifiedMatching +OMIM:116840 CTSD skos:exactMatch hgnc.symbol:CTSD semapv:UnspecifiedMatching +OMIM:116840 CTSD skos:exactMatch ncbigene:1509 semapv:UnspecifiedMatching +OMIM:116845 CTSS skos:exactMatch hgnc.symbol:2545 semapv:UnspecifiedMatching +OMIM:116845 CTSS skos:exactMatch hgnc.symbol:CTSS semapv:UnspecifiedMatching +OMIM:116845 CTSS skos:exactMatch ncbigene:1520 semapv:UnspecifiedMatching +OMIM:116850 catatrichy skos:exactMatch MONDO:0022109 semapv:UnspecifiedMatching +OMIM:116860 cerebral cavernous malformations skos:exactMatch MONDO:0020724 semapv:UnspecifiedMatching +OMIM:116860 cerebral cavernous malformations skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching +OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C1366911 semapv:UnspecifiedMatching +OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C2919945 semapv:UnspecifiedMatching +OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch MONDO:0004914 semapv:UnspecifiedMatching +OMIM:116880 CTSL skos:exactMatch hgnc.symbol:2537 semapv:UnspecifiedMatching +OMIM:116880 CTSL skos:exactMatch hgnc.symbol:CTSL semapv:UnspecifiedMatching +OMIM:116880 CTSL skos:exactMatch ncbigene:1514 semapv:UnspecifiedMatching +OMIM:116890 CTSE skos:exactMatch hgnc.symbol:2530 semapv:UnspecifiedMatching +OMIM:116890 CTSE skos:exactMatch hgnc.symbol:CTSE semapv:UnspecifiedMatching +OMIM:116890 CTSE skos:exactMatch ncbigene:1510 semapv:UnspecifiedMatching +OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:2557 semapv:UnspecifiedMatching +OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:CUX1 semapv:UnspecifiedMatching +OMIM:116896 CUX1 skos:exactMatch ncbigene:1523 semapv:UnspecifiedMatching +OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:1833 semapv:UnspecifiedMatching +OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:CEBPA semapv:UnspecifiedMatching +OMIM:116897 CEBPA skos:exactMatch ncbigene:1050 semapv:UnspecifiedMatching +OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:1835 semapv:UnspecifiedMatching +OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:CEBPD semapv:UnspecifiedMatching +OMIM:116898 CEBPD skos:exactMatch ncbigene:1052 semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch UMLS:C0249197 semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch UMLS:C4015938 semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:1784 semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:CDKN1A semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch ncbigene:1026 semapv:UnspecifiedMatching +OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:19083 semapv:UnspecifiedMatching +OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:CKS1B semapv:UnspecifiedMatching +OMIM:116900 CKS1B skos:exactMatch ncbigene:1163 semapv:UnspecifiedMatching +OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:2000 semapv:UnspecifiedMatching +OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:CKS2 semapv:UnspecifiedMatching +OMIM:116901 CKS2 skos:exactMatch ncbigene:1164 semapv:UnspecifiedMatching +OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch MONDO:0007293 semapv:UnspecifiedMatching +OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:2968 semapv:UnspecifiedMatching +OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:99842 semapv:UnspecifiedMatching +OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch UMLS:C0398738 semapv:UnspecifiedMatching +OMIM:116930 NCAM1 skos:exactMatch hgnc.symbol:7656 semapv:UnspecifiedMatching +OMIM:116930 NCAM1 skos:exactMatch hgnc.symbol:NCAM1 semapv:UnspecifiedMatching +OMIM:116930 NCAM1 skos:exactMatch ncbigene:4684 semapv:UnspecifiedMatching +OMIM:116940 CDK1 skos:exactMatch hgnc.symbol:1722 semapv:UnspecifiedMatching +OMIM:116940 CDK1 skos:exactMatch hgnc.symbol:CDK1 semapv:UnspecifiedMatching +OMIM:116940 CDK1 skos:exactMatch ncbigene:983 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch UMLS:C1334489 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch UMLS:C4310775 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch hgnc.symbol:6944 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch hgnc.symbol:MCM2 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch ncbigene:4171 semapv:UnspecifiedMatching +OMIM:116946 CDC27 skos:exactMatch hgnc.symbol:1728 semapv:UnspecifiedMatching +OMIM:116946 CDC27 skos:exactMatch hgnc.symbol:CDC27 semapv:UnspecifiedMatching +OMIM:116946 CDC27 skos:exactMatch ncbigene:996 semapv:UnspecifiedMatching +OMIM:116947 CDC25A skos:exactMatch hgnc.symbol:1725 semapv:UnspecifiedMatching +OMIM:116947 CDC25A skos:exactMatch hgnc.symbol:CDC25A semapv:UnspecifiedMatching +OMIM:116947 CDC25A skos:exactMatch ncbigene:993 semapv:UnspecifiedMatching +OMIM:116948 CDC34 skos:exactMatch hgnc.symbol:1734 semapv:UnspecifiedMatching +OMIM:116948 CDC34 skos:exactMatch hgnc.symbol:CDC34 semapv:UnspecifiedMatching +OMIM:116948 CDC34 skos:exactMatch ncbigene:997 semapv:UnspecifiedMatching +OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:1726 semapv:UnspecifiedMatching +OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:CDC25B semapv:UnspecifiedMatching +OMIM:116949 CDC25B skos:exactMatch ncbigene:994 semapv:UnspecifiedMatching +OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:1730 semapv:UnspecifiedMatching +OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:CDK11A semapv:UnspecifiedMatching +OMIM:116951 CDK11A skos:exactMatch ncbigene:728642 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch UMLS:C1366537 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch hgnc.symbol:1736 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch hgnc.symbol:CDC42 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch ncbigene:998 semapv:UnspecifiedMatching +OMIM:116953 CDK2 skos:exactMatch hgnc.symbol:1771 semapv:UnspecifiedMatching +OMIM:116953 CDK2 skos:exactMatch hgnc.symbol:CDK2 semapv:UnspecifiedMatching +OMIM:116953 CDK2 skos:exactMatch ncbigene:1017 semapv:UnspecifiedMatching +OMIM:116955 CNBP skos:exactMatch hgnc.symbol:13164 semapv:UnspecifiedMatching +OMIM:116955 CNBP skos:exactMatch hgnc.symbol:CNBP semapv:UnspecifiedMatching +OMIM:116955 CNBP skos:exactMatch ncbigene:7555 semapv:UnspecifiedMatching +OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:9893 semapv:UnspecifiedMatching +OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:RBL1 semapv:UnspecifiedMatching +OMIM:116957 RBL1 skos:exactMatch ncbigene:5933 semapv:UnspecifiedMatching +OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:15773 semapv:UnspecifiedMatching +OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:MORF4 semapv:UnspecifiedMatching +OMIM:116960 MORF4 skos:exactMatch ncbigene:10934 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch MONDO:0007294 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching +OMIM:117100 centralopathic epilepsy skos:exactMatch MONDO:0007295 semapv:UnspecifiedMatching +OMIM:117139 CENPA skos:exactMatch hgnc.symbol:1851 semapv:UnspecifiedMatching +OMIM:117139 CENPA skos:exactMatch hgnc.symbol:CENPA semapv:UnspecifiedMatching +OMIM:117139 CENPA skos:exactMatch ncbigene:1058 semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch UMLS:C1413339 semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch hgnc.symbol:1852 semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch hgnc.symbol:CENPB semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch ncbigene:1059 semapv:UnspecifiedMatching +OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:1854 semapv:UnspecifiedMatching +OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:CENPC semapv:UnspecifiedMatching +OMIM:117141 CENPC1 skos:exactMatch ncbigene:1060 semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch UMLS:C1413342 semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch UMLS:C4015080 semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch hgnc.symbol:1856 semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch hgnc.symbol:CENPE semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch ncbigene:1062 semapv:UnspecifiedMatching +OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch MONDO:0007296 semapv:UnspecifiedMatching +OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch Orphanet:217012 semapv:UnspecifiedMatching +OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch UMLS:C1861736 semapv:UnspecifiedMatching +OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 skos:exactMatch MONDO:0007297 semapv:UnspecifiedMatching +OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:1799 semapv:UnspecifiedMatching +OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:CDR2 semapv:UnspecifiedMatching +OMIM:117340 CDR2 skos:exactMatch ncbigene:1039 semapv:UnspecifiedMatching +OMIM:117360 spinocerebellar ataxia 29 skos:exactMatch MONDO:0007298 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch MONDO:0019349 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch Orphanet:821 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch UMLS:C0175695 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch UMLS:C4551477 semapv:UnspecifiedMatching +OMIM:117600 cerebral sarcoma skos:exactMatch MONDO:0007300 semapv:UnspecifiedMatching +OMIM:117650 cerebrocostomandibular syndrome skos:exactMatch MONDO:0007301 semapv:UnspecifiedMatching +OMIM:117700 CP skos:exactMatch hgnc.symbol:2295 semapv:UnspecifiedMatching +OMIM:117700 CP skos:exactMatch hgnc.symbol:CP semapv:UnspecifiedMatching +OMIM:117700 CP skos:exactMatch ncbigene:1356 semapv:UnspecifiedMatching +OMIM:117800 apocrine gland secretion, variation 1n skos:exactMatch MONDO:0044224 semapv:UnspecifiedMatching +OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch MONDO:0007302 semapv:UnspecifiedMatching +OMIM:117900 cervical rib skos:exactMatch MONDO:0007303 semapv:UnspecifiedMatching +OMIM:118000 cervical vertebral bridge skos:exactMatch MONDO:0007304 semapv:UnspecifiedMatching +OMIM:118005 cervical vertebral dysplasia skos:exactMatch MONDO:0007305 semapv:UnspecifiedMatching +OMIM:118100 klippel-feil syndrome 1, autosomal dominant skos:exactMatch MONDO:0007306 semapv:UnspecifiedMatching +OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:5261 semapv:UnspecifiedMatching +OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:HSPD1 semapv:UnspecifiedMatching +OMIM:118190 HSPD1 skos:exactMatch ncbigene:3329 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch MONDO:0007307 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0007959 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0751036 semapv:UnspecifiedMatching +OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 skos:exactMatch MONDO:0007308 semapv:UnspecifiedMatching +OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch MONDO:0007309 semapv:UnspecifiedMatching +OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch Orphanet:101081 semapv:UnspecifiedMatching +OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching +OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal iia skos:exactMatch MONDO:0007310 semapv:UnspecifiedMatching +OMIM:118300 charcot-marie-tooth disease and deafness skos:exactMatch MONDO:0007311 semapv:UnspecifiedMatching +OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism skos:exactMatch MONDO:0007312 semapv:UnspecifiedMatching +OMIM:118330 cheilitis glandularis skos:exactMatch MONDO:0007313 semapv:UnspecifiedMatching +OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch MONDO:0007314 semapv:UnspecifiedMatching +OMIM:118400 cherubism skos:exactMatch MONDO:0007315 semapv:UnspecifiedMatching +OMIM:118400 cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching +OMIM:118400 cherubism skos:exactMatch UMLS:C0008029 semapv:UnspecifiedMatching +OMIM:118420 chiari malformation iia 1 skos:exactMatch MONDO:0007316 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch UMLS:C1413396 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:1943 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:CHN1 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch ncbigene:1123 semapv:UnspecifiedMatching +OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:2019 semapv:UnspecifiedMatching +OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:CLCN1 semapv:UnspecifiedMatching +OMIM:118425 CLCN1 skos:exactMatch ncbigene:1180 semapv:UnspecifiedMatching +OMIM:118430 chlorpropamide-alcohol flushing skos:exactMatch MONDO:0007317 semapv:UnspecifiedMatching +OMIM:118440 CCK skos:exactMatch hgnc.symbol:1569 semapv:UnspecifiedMatching +OMIM:118440 CCK skos:exactMatch hgnc.symbol:CCK semapv:UnspecifiedMatching +OMIM:118440 CCK skos:exactMatch ncbigene:885 semapv:UnspecifiedMatching +OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:1570 semapv:UnspecifiedMatching +OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:CCKAR semapv:UnspecifiedMatching +OMIM:118444 CCKAR skos:exactMatch ncbigene:886 semapv:UnspecifiedMatching +OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:1571 semapv:UnspecifiedMatching +OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:CCKBR semapv:UnspecifiedMatching +OMIM:118445 CCKBR skos:exactMatch ncbigene:887 semapv:UnspecifiedMatching +OMIM:118450 alagille syndrome 1 skos:exactMatch MONDO:0016862 semapv:UnspecifiedMatching +OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:2651 semapv:UnspecifiedMatching +OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:CYP7A1 semapv:UnspecifiedMatching +OMIM:118455 CYP7A1 skos:exactMatch ncbigene:1581 semapv:UnspecifiedMatching +OMIM:118470 CETP skos:exactMatch hgnc.symbol:1869 semapv:UnspecifiedMatching +OMIM:118470 CETP skos:exactMatch hgnc.symbol:CETP semapv:UnspecifiedMatching +OMIM:118470 CETP skos:exactMatch ncbigene:1071 semapv:UnspecifiedMatching +OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:2590 semapv:UnspecifiedMatching +OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:CYP11A1 semapv:UnspecifiedMatching +OMIM:118485 CYP11A1 skos:exactMatch ncbigene:1583 semapv:UnspecifiedMatching +OMIM:118490 CHAT skos:exactMatch hgnc.symbol:1912 semapv:UnspecifiedMatching +OMIM:118490 CHAT skos:exactMatch hgnc.symbol:CHAT semapv:UnspecifiedMatching +OMIM:118490 CHAT skos:exactMatch ncbigene:1103 semapv:UnspecifiedMatching +OMIM:118491 CHKA skos:exactMatch hgnc.symbol:1937 semapv:UnspecifiedMatching +OMIM:118491 CHKA skos:exactMatch hgnc.symbol:CHKA semapv:UnspecifiedMatching +OMIM:118491 CHKA skos:exactMatch ncbigene:1119 semapv:UnspecifiedMatching +OMIM:118493 CHRM2 skos:exactMatch UMLS:C1413400 semapv:UnspecifiedMatching +OMIM:118493 CHRM2 skos:exactMatch hgnc.symbol:1951 semapv:UnspecifiedMatching +OMIM:118493 CHRM2 skos:exactMatch hgnc.symbol:CHRM2 semapv:UnspecifiedMatching +OMIM:118493 CHRM2 skos:exactMatch ncbigene:1129 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch UMLS:C1332759 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch hgnc.symbol:1952 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch hgnc.symbol:CHRM3 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch ncbigene:1131 semapv:UnspecifiedMatching +OMIM:118495 CHRM4 skos:exactMatch hgnc.symbol:1953 semapv:UnspecifiedMatching +OMIM:118495 CHRM4 skos:exactMatch hgnc.symbol:CHRM4 semapv:UnspecifiedMatching +OMIM:118495 CHRM4 skos:exactMatch ncbigene:1132 semapv:UnspecifiedMatching +OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:1954 semapv:UnspecifiedMatching +OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:CHRM5 semapv:UnspecifiedMatching +OMIM:118496 CHRM5 skos:exactMatch ncbigene:1133 semapv:UnspecifiedMatching +OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:1956 semapv:UnspecifiedMatching +OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:CHRNA2 semapv:UnspecifiedMatching +OMIM:118502 CHRNA2 skos:exactMatch ncbigene:1135 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1413403 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch UMLS:C2677571 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:1957 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:CHRNA3 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch ncbigene:1136 semapv:UnspecifiedMatching +OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:1958 semapv:UnspecifiedMatching +OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:CHRNA4 semapv:UnspecifiedMatching +OMIM:118504 CHRNA4 skos:exactMatch ncbigene:1137 semapv:UnspecifiedMatching +OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:1959 semapv:UnspecifiedMatching +OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:CHRNA5 semapv:UnspecifiedMatching +OMIM:118505 CHRNA5 skos:exactMatch ncbigene:1138 semapv:UnspecifiedMatching +OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:1962 semapv:UnspecifiedMatching +OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:CHRNB2 semapv:UnspecifiedMatching +OMIM:118507 CHRNB2 skos:exactMatch ncbigene:1141 semapv:UnspecifiedMatching +OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:1963 semapv:UnspecifiedMatching +OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:CHRNB3 semapv:UnspecifiedMatching +OMIM:118508 CHRNB3 skos:exactMatch ncbigene:1142 semapv:UnspecifiedMatching +OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:1964 semapv:UnspecifiedMatching +OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:CHRNB4 semapv:UnspecifiedMatching +OMIM:118509 CHRNB4 skos:exactMatch ncbigene:1143 semapv:UnspecifiedMatching +OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:1950 semapv:UnspecifiedMatching +OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:CHRM1 semapv:UnspecifiedMatching +OMIM:118510 CHRM1 skos:exactMatch ncbigene:1128 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch UMLS:C1413406 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:1960 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:CHRNA7 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch ncbigene:1139 semapv:UnspecifiedMatching +OMIM:118600 chondrocalcinosis 2 skos:exactMatch MONDO:0007319 semapv:UnspecifiedMatching +OMIM:118600 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching +OMIM:118600 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching +OMIM:118610 chondrocalcinosis due to apatite crystal deposition skos:exactMatch MONDO:0007320 semapv:UnspecifiedMatching +OMIM:118650 chondrodysplasia punctata, autosomal dominant skos:exactMatch MONDO:0007321 semapv:UnspecifiedMatching +OMIM:118651 chondrodysplasia punctata, tibia-metacarpal iia skos:exactMatch MONDO:0007322 semapv:UnspecifiedMatching +OMIM:118661 VCAN skos:exactMatch hgnc.symbol:2464 semapv:UnspecifiedMatching +OMIM:118661 VCAN skos:exactMatch hgnc.symbol:VCAN semapv:UnspecifiedMatching +OMIM:118661 VCAN skos:exactMatch ncbigene:1462 semapv:UnspecifiedMatching +OMIM:118670 chondronectin skos:exactMatch MONDO:0007323 semapv:UnspecifiedMatching +OMIM:118700 chorea, benign hereditary skos:exactMatch MONDO:0021011 semapv:UnspecifiedMatching +OMIM:118700 chorea, benign hereditary skos:exactMatch Orphanet:1429 semapv:UnspecifiedMatching +OMIM:118700 chorea, benign hereditary skos:exactMatch UMLS:C0393584 semapv:UnspecifiedMatching +OMIM:118750 choreoathetosis, familial inverted skos:exactMatch MONDO:0007325 semapv:UnspecifiedMatching +OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch MONDO:0700089 semapv:UnspecifiedMatching +OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch Orphanet:98810 semapv:UnspecifiedMatching +OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching +OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:2441 semapv:UnspecifiedMatching +OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:CSH2 semapv:UnspecifiedMatching +OMIM:118820 CSH2 skos:exactMatch ncbigene:1443 semapv:UnspecifiedMatching +OMIM:118825 CHML skos:exactMatch hgnc.symbol:1941 semapv:UnspecifiedMatching +OMIM:118825 CHML skos:exactMatch hgnc.symbol:CHML semapv:UnspecifiedMatching +OMIM:118825 CHML skos:exactMatch ncbigene:1122 semapv:UnspecifiedMatching +OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch MONDO:0007327 semapv:UnspecifiedMatching +OMIM:118840 chromate resistance skos:exactMatch MONDO:0200001 semapv:UnspecifiedMatching +OMIM:118850 CGA skos:exactMatch hgnc.symbol:1885 semapv:UnspecifiedMatching +OMIM:118850 CGA skos:exactMatch hgnc.symbol:CGA semapv:UnspecifiedMatching +OMIM:118850 CGA skos:exactMatch ncbigene:1081 semapv:UnspecifiedMatching +OMIM:118860 CGB skos:exactMatch hgnc.symbol:1886 semapv:UnspecifiedMatching +OMIM:118860 CGB skos:exactMatch hgnc.symbol:CGB3 semapv:UnspecifiedMatching +OMIM:118860 CGB skos:exactMatch ncbigene:1082 semapv:UnspecifiedMatching +OMIM:118865 choroidal osteoma, bilateral skos:exactMatch MONDO:0007328 semapv:UnspecifiedMatching +OMIM:118888 CTRL skos:exactMatch hgnc.symbol:2524 semapv:UnspecifiedMatching +OMIM:118888 CTRL skos:exactMatch hgnc.symbol:CTRL semapv:UnspecifiedMatching +OMIM:118888 CTRL skos:exactMatch ncbigene:1506 semapv:UnspecifiedMatching +OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:2521 semapv:UnspecifiedMatching +OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:CTRB1 semapv:UnspecifiedMatching +OMIM:118890 CTRB1 skos:exactMatch ncbigene:1504 semapv:UnspecifiedMatching +OMIM:118900 cirrhosis, familial skos:exactMatch MONDO:0021025 semapv:UnspecifiedMatching +OMIM:118910 CHGA skos:exactMatch hgnc.symbol:1929 semapv:UnspecifiedMatching +OMIM:118910 CHGA skos:exactMatch hgnc.symbol:CHGA semapv:UnspecifiedMatching +OMIM:118910 CHGA skos:exactMatch ncbigene:1113 semapv:UnspecifiedMatching +OMIM:118920 CHGB skos:exactMatch hgnc.symbol:1930 semapv:UnspecifiedMatching +OMIM:118920 CHGB skos:exactMatch hgnc.symbol:CHGB semapv:UnspecifiedMatching +OMIM:118920 CHGB skos:exactMatch ncbigene:1114 semapv:UnspecifiedMatching +OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:10575 semapv:UnspecifiedMatching +OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:SCG2 semapv:UnspecifiedMatching +OMIM:118930 SCG2 skos:exactMatch ncbigene:7857 semapv:UnspecifiedMatching +OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:2097 semapv:UnspecifiedMatching +OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:CMA1 semapv:UnspecifiedMatching +OMIM:118938 CMA1 skos:exactMatch ncbigene:1215 semapv:UnspecifiedMatching +OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:2588 semapv:UnspecifiedMatching +OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:CYMP semapv:UnspecifiedMatching +OMIM:118945 CNTF skos:exactMatch hgnc.symbol:2169 semapv:UnspecifiedMatching +OMIM:118945 CNTF skos:exactMatch hgnc.symbol:CNTF semapv:UnspecifiedMatching +OMIM:118945 CNTF skos:exactMatch ncbigene:1270 semapv:UnspecifiedMatching +OMIM:118946 CNTFR skos:exactMatch hgnc.symbol:2170 semapv:UnspecifiedMatching +OMIM:118946 CNTFR skos:exactMatch hgnc.symbol:CNTFR semapv:UnspecifiedMatching +OMIM:118946 CNTFR skos:exactMatch ncbigene:1271 semapv:UnspecifiedMatching +OMIM:118950 CS skos:exactMatch UMLS:C1413745 semapv:UnspecifiedMatching +OMIM:118950 CS skos:exactMatch hgnc.symbol:2422 semapv:UnspecifiedMatching +OMIM:118950 CS skos:exactMatch hgnc.symbol:CS semapv:UnspecifiedMatching +OMIM:118950 CS skos:exactMatch ncbigene:1431 semapv:UnspecifiedMatching +OMIM:118955 CLTC skos:exactMatch hgnc.symbol:2092 semapv:UnspecifiedMatching +OMIM:118955 CLTC skos:exactMatch hgnc.symbol:CLTC semapv:UnspecifiedMatching +OMIM:118955 CLTC skos:exactMatch ncbigene:1213 semapv:UnspecifiedMatching +OMIM:118960 CLTA skos:exactMatch hgnc.symbol:2090 semapv:UnspecifiedMatching +OMIM:118960 CLTA skos:exactMatch hgnc.symbol:CLTA semapv:UnspecifiedMatching +OMIM:118960 CLTA skos:exactMatch ncbigene:1211 semapv:UnspecifiedMatching +OMIM:118970 CLTB skos:exactMatch hgnc.symbol:2091 semapv:UnspecifiedMatching +OMIM:118970 CLTB skos:exactMatch hgnc.symbol:CLTB semapv:UnspecifiedMatching +OMIM:118970 CLTB skos:exactMatch ncbigene:1212 semapv:UnspecifiedMatching +OMIM:118980 clavicle, pseudarthrosis of, congenital skos:exactMatch MONDO:0007330 semapv:UnspecifiedMatching +OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:11319 semapv:UnspecifiedMatching +OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:ITPRID2 semapv:UnspecifiedMatching +OMIM:118990 ITPRID2 skos:exactMatch ncbigene:6744 semapv:UnspecifiedMatching +OMIM:119000 cleft chin skos:exactMatch MONDO:0007331 semapv:UnspecifiedMatching +OMIM:119100 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch MONDO:0007332 semapv:UnspecifiedMatching +OMIM:119300 van der woude syndrome 1 skos:exactMatch MONDO:0007333 semapv:UnspecifiedMatching +OMIM:119500 popliteal pterygium syndrome skos:exactMatch MONDO:0007334 semapv:UnspecifiedMatching +OMIM:119500 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching +OMIM:119500 popliteal pterygium syndrome skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch MONDO:0007335 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching +OMIM:119540 cleft palate, isolated skos:exactMatch MONDO:0007336 semapv:UnspecifiedMatching +OMIM:119550 syngnathia skos:exactMatch MONDO:0007337 semapv:UnspecifiedMatching +OMIM:119570 cleft soft palate skos:exactMatch MONDO:0007338 semapv:UnspecifiedMatching +OMIM:119580 blepharocheilodontic syndrome 1 skos:exactMatch MONDO:0054740 semapv:UnspecifiedMatching +OMIM:119600 cleidocranial dysplasia 1 skos:exactMatch MONDO:0007340 semapv:UnspecifiedMatching +OMIM:119650 cleidorhizomelic syndrome skos:exactMatch MONDO:0007341 semapv:UnspecifiedMatching +OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly skos:exactMatch MONDO:0007342 semapv:UnspecifiedMatching +OMIM:119900 digital clubbing, isolated congenital skos:exactMatch MONDO:0007343 semapv:UnspecifiedMatching +OMIM:119900 digital clubbing, isolated congenital skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching +OMIM:119900 digital clubbing, isolated congenital skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching +OMIM:119915 cluster headache, familial skos:exactMatch MONDO:0007344 semapv:UnspecifiedMatching +OMIM:120000 coarctation of aorta skos:exactMatch MONDO:0007345 semapv:UnspecifiedMatching +OMIM:120040 cochleosaccular degeneration with progressive cataracts skos:exactMatch MONDO:0007346 semapv:UnspecifiedMatching +OMIM:120050 coxsackievirus b3 susceptibility skos:exactMatch MONDO:0007347 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch UMLS:C1332774 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746547 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746745 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:2204 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:COL4A3 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch ncbigene:1285 semapv:UnspecifiedMatching +OMIM:120080 colchicine resistance skos:exactMatch MONDO:0007348 semapv:UnspecifiedMatching +OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:2203 semapv:UnspecifiedMatching +OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:COL4A2 semapv:UnspecifiedMatching +OMIM:120090 COL4A2 skos:exactMatch ncbigene:1284 semapv:UnspecifiedMatching +OMIM:120100 familial cold autoinflammatory syndrome 1 skos:exactMatch MONDO:0007349 semapv:UnspecifiedMatching +OMIM:120105 CLPS skos:exactMatch hgnc.symbol:2085 semapv:UnspecifiedMatching +OMIM:120105 CLPS skos:exactMatch hgnc.symbol:CLPS semapv:UnspecifiedMatching +OMIM:120105 CLPS skos:exactMatch ncbigene:1208 semapv:UnspecifiedMatching +OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:2185 semapv:UnspecifiedMatching +OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:COL10A1 semapv:UnspecifiedMatching +OMIM:120110 COL10A1 skos:exactMatch ncbigene:1300 semapv:UnspecifiedMatching +OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:2214 semapv:UnspecifiedMatching +OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:COL7A1 semapv:UnspecifiedMatching +OMIM:120120 COL7A1 skos:exactMatch ncbigene:1294 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C1413582 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C1867327 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C2673195 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C3281105 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193157 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193158 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch UMLS:C5231411 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:2202 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:COL4A1 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch ncbigene:1282 semapv:UnspecifiedMatching +OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:2206 semapv:UnspecifiedMatching +OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:COL4A4 semapv:UnspecifiedMatching +OMIM:120131 COL4A4 skos:exactMatch ncbigene:1286 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0023234 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0432214 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0542428 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0700635 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C0796173 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1413580 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836080 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836081 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1836683 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C1852989 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C2020284 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C2745959 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C4225640 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch UMLS:C4551562 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:2200 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:COL2A1 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch ncbigene:1280 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C0023931 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C0029434 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C1332772 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015948 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015949 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015950 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015951 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015952 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:2197 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:COL1A1 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch ncbigene:1277 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C1332773 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C1851801 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015953 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C4303789 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310980 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310981 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:2198 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:COL1A2 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch ncbigene:1278 semapv:UnspecifiedMatching +OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:2196 semapv:UnspecifiedMatching +OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:COL19A1 semapv:UnspecifiedMatching +OMIM:120165 COL19A1 skos:exactMatch ncbigene:1310 semapv:UnspecifiedMatching +OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:2201 semapv:UnspecifiedMatching +OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:COL3A1 semapv:UnspecifiedMatching +OMIM:120180 COL3A1 skos:exactMatch ncbigene:1281 semapv:UnspecifiedMatching +OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:2210 semapv:UnspecifiedMatching +OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:COL5A2 semapv:UnspecifiedMatching +OMIM:120190 COL5A2 skos:exactMatch ncbigene:1290 semapv:UnspecifiedMatching +OMIM:120200 coloboma, ocular, autosomal dominant skos:exactMatch MONDO:0007350 semapv:UnspecifiedMatching +OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:2217 semapv:UnspecifiedMatching +OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:COL9A1 semapv:UnspecifiedMatching +OMIM:120210 COL9A1 skos:exactMatch ncbigene:1297 semapv:UnspecifiedMatching +OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:2209 semapv:UnspecifiedMatching +OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:COL5A1 semapv:UnspecifiedMatching +OMIM:120215 COL5A1 skos:exactMatch ncbigene:1289 semapv:UnspecifiedMatching +OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:14864 semapv:UnspecifiedMatching +OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:COL5A3 semapv:UnspecifiedMatching +OMIM:120216 COL5A3 skos:exactMatch ncbigene:50509 semapv:UnspecifiedMatching +OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:2211 semapv:UnspecifiedMatching +OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:COL6A1 semapv:UnspecifiedMatching +OMIM:120220 COL6A1 skos:exactMatch ncbigene:1291 semapv:UnspecifiedMatching +OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:2212 semapv:UnspecifiedMatching +OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:COL6A2 semapv:UnspecifiedMatching +OMIM:120240 COL6A2 skos:exactMatch ncbigene:1292 semapv:UnspecifiedMatching +OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:2213 semapv:UnspecifiedMatching +OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:COL6A3 semapv:UnspecifiedMatching +OMIM:120250 COL6A3 skos:exactMatch ncbigene:1293 semapv:UnspecifiedMatching +OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:2215 semapv:UnspecifiedMatching +OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:COL8A1 semapv:UnspecifiedMatching +OMIM:120251 COL8A1 skos:exactMatch ncbigene:1295 semapv:UnspecifiedMatching +OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:2216 semapv:UnspecifiedMatching +OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:COL8A2 semapv:UnspecifiedMatching +OMIM:120252 COL8A2 skos:exactMatch ncbigene:1296 semapv:UnspecifiedMatching +OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:2218 semapv:UnspecifiedMatching +OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:COL9A2 semapv:UnspecifiedMatching +OMIM:120260 COL9A2 skos:exactMatch ncbigene:1298 semapv:UnspecifiedMatching +OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:2219 semapv:UnspecifiedMatching +OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:COL9A3 semapv:UnspecifiedMatching +OMIM:120270 COL9A3 skos:exactMatch ncbigene:1299 semapv:UnspecifiedMatching +OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:2186 semapv:UnspecifiedMatching +OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:COL11A1 semapv:UnspecifiedMatching +OMIM:120280 COL11A1 skos:exactMatch ncbigene:1301 semapv:UnspecifiedMatching +OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:2187 semapv:UnspecifiedMatching +OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:COL11A2 semapv:UnspecifiedMatching +OMIM:120290 COL11A2 skos:exactMatch ncbigene:1302 semapv:UnspecifiedMatching +OMIM:120300 coloboma of macula skos:exactMatch MONDO:0007351 semapv:UnspecifiedMatching +OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:2188 semapv:UnspecifiedMatching +OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:COL12A1 semapv:UnspecifiedMatching +OMIM:120320 COL12A1 skos:exactMatch ncbigene:1303 semapv:UnspecifiedMatching +OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:2191 semapv:UnspecifiedMatching +OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:COL14A1 semapv:UnspecifiedMatching +OMIM:120324 COL14A1 skos:exactMatch ncbigene:7373 semapv:UnspecifiedMatching +OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:2192 semapv:UnspecifiedMatching +OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:COL15A1 semapv:UnspecifiedMatching +OMIM:120325 COL15A1 skos:exactMatch ncbigene:1306 semapv:UnspecifiedMatching +OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:2193 semapv:UnspecifiedMatching +OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:COL16A1 semapv:UnspecifiedMatching +OMIM:120326 COL16A1 skos:exactMatch ncbigene:1307 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch UMLS:C1332771 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch hgnc.symbol:2195 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch hgnc.symbol:COL18A1 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch ncbigene:80781 semapv:UnspecifiedMatching +OMIM:120330 papillorenal syndrome skos:exactMatch MONDO:0007352 semapv:UnspecifiedMatching +OMIM:120340 COL1AR skos:exactMatch hgnc.symbol:2199 semapv:UnspecifiedMatching +OMIM:120340 COL1AR skos:exactMatch hgnc.symbol:COL1AR semapv:UnspecifiedMatching +OMIM:120340 COL1AR skos:exactMatch ncbigene:1279 semapv:UnspecifiedMatching +OMIM:120350 COL13A1 skos:exactMatch hgnc.symbol:2190 semapv:UnspecifiedMatching +OMIM:120350 COL13A1 skos:exactMatch hgnc.symbol:COL13A1 semapv:UnspecifiedMatching +OMIM:120350 COL13A1 skos:exactMatch ncbigene:1305 semapv:UnspecifiedMatching +OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:7155 semapv:UnspecifiedMatching +OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:MMP1 semapv:UnspecifiedMatching +OMIM:120353 MMP1 skos:exactMatch ncbigene:4312 semapv:UnspecifiedMatching +OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:7175 semapv:UnspecifiedMatching +OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:MMP8 semapv:UnspecifiedMatching +OMIM:120355 MMP8 skos:exactMatch ncbigene:4317 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch UMLS:C1334522 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:7166 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:MMP2 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch ncbigene:4313 semapv:UnspecifiedMatching +OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:7176 semapv:UnspecifiedMatching +OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:MMP9 semapv:UnspecifiedMatching +OMIM:120361 MMP9 skos:exactMatch ncbigene:4318 semapv:UnspecifiedMatching +OMIM:120400 coloboma of macula with iia B brachydactyly skos:exactMatch MONDO:0007353 semapv:UnspecifiedMatching +OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:2432 semapv:UnspecifiedMatching +OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:CSF1 semapv:UnspecifiedMatching +OMIM:120420 CSF1 skos:exactMatch ncbigene:1435 semapv:UnspecifiedMatching +OMIM:120430 coloboma of optic nerve skos:exactMatch MONDO:0007354 semapv:UnspecifiedMatching +OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development skos:exactMatch MONDO:0007355 semapv:UnspecifiedMatching +OMIM:120435 lynch syndrome 1 skos:exactMatch MONDO:0007356 semapv:UnspecifiedMatching +OMIM:120435 lynch syndrome 1 skos:exactMatch Orphanet:144 semapv:UnspecifiedMatching +OMIM:120435 lynch syndrome 1 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C0879389 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C1333991 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C4015969 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:7127 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:MLH1 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch ncbigene:4292 semapv:UnspecifiedMatching +OMIM:120440 colonic varices without portal hypertension skos:exactMatch MONDO:0007357 semapv:UnspecifiedMatching +OMIM:120450 comedones, familial dyskeratotic skos:exactMatch MONDO:0007358 semapv:UnspecifiedMatching +OMIM:120470 DCC skos:exactMatch hgnc.symbol:2701 semapv:UnspecifiedMatching +OMIM:120470 DCC skos:exactMatch hgnc.symbol:DCC semapv:UnspecifiedMatching +OMIM:120470 DCC skos:exactMatch ncbigene:1630 semapv:UnspecifiedMatching +OMIM:120500 commissural 51p pits skos:exactMatch MONDO:0007359 semapv:UnspecifiedMatching +OMIM:120502 branchiootic syndrome 2 skos:exactMatch MONDO:0007360 semapv:UnspecifiedMatching +OMIM:120520 MME skos:exactMatch hgnc.symbol:7154 semapv:UnspecifiedMatching +OMIM:120520 MME skos:exactMatch hgnc.symbol:MME semapv:UnspecifiedMatching +OMIM:120520 MME skos:exactMatch ncbigene:4311 semapv:UnspecifiedMatching +OMIM:120550 C1QA skos:exactMatch hgnc.symbol:1241 semapv:UnspecifiedMatching +OMIM:120550 C1QA skos:exactMatch hgnc.symbol:C1QA semapv:UnspecifiedMatching +OMIM:120550 C1QA skos:exactMatch ncbigene:712 semapv:UnspecifiedMatching +OMIM:120570 C1QB skos:exactMatch hgnc.symbol:1242 semapv:UnspecifiedMatching +OMIM:120570 C1QB skos:exactMatch hgnc.symbol:C1QB semapv:UnspecifiedMatching +OMIM:120570 C1QB skos:exactMatch ncbigene:713 semapv:UnspecifiedMatching +OMIM:120575 C1QC skos:exactMatch hgnc.symbol:1245 semapv:UnspecifiedMatching +OMIM:120575 C1QC skos:exactMatch hgnc.symbol:C1QC semapv:UnspecifiedMatching +OMIM:120575 C1QC skos:exactMatch ncbigene:714 semapv:UnspecifiedMatching +OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:15855 semapv:UnspecifiedMatching +OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:CD93 semapv:UnspecifiedMatching +OMIM:120577 C1QR1 skos:exactMatch ncbigene:22918 semapv:UnspecifiedMatching +OMIM:120580 C1S skos:exactMatch hgnc.symbol:1247 semapv:UnspecifiedMatching +OMIM:120580 C1S skos:exactMatch hgnc.symbol:C1S semapv:UnspecifiedMatching +OMIM:120580 C1S skos:exactMatch ncbigene:716 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch UMLS:C1413694 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch hgnc.symbol:2334 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch hgnc.symbol:CR1 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch ncbigene:1378 semapv:UnspecifiedMatching +OMIM:120650 CR2 skos:exactMatch hgnc.symbol:2336 semapv:UnspecifiedMatching +OMIM:120650 CR2 skos:exactMatch hgnc.symbol:CR2 semapv:UnspecifiedMatching +OMIM:120650 CR2 skos:exactMatch ncbigene:1380 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C1332655 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C1332656 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C2752037 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C4015971 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C4015972 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch UMLS:C4017429 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch hgnc.symbol:1318 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch hgnc.symbol:C3 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch ncbigene:718 semapv:UnspecifiedMatching +OMIM:120790 complement component 4, partial deficiency of skos:exactMatch MONDO:0007361 semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch UMLS:C1412999 semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch UMLS:C3280642 semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch hgnc.symbol:1323 semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch hgnc.symbol:C4A semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch ncbigene:720 semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch UMLS:C1413000 semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch hgnc.symbol:1324 semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch hgnc.symbol:C4B semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch ncbigene:721 semapv:UnspecifiedMatching +OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:1325 semapv:UnspecifiedMatching +OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:C4BPA semapv:UnspecifiedMatching +OMIM:120830 C4BPA skos:exactMatch ncbigene:722 semapv:UnspecifiedMatching +OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:1328 semapv:UnspecifiedMatching +OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:C4BPB semapv:UnspecifiedMatching +OMIM:120831 C4BPB skos:exactMatch ncbigene:725 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch UMLS:C1367710 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch UMLS:C3810402 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch hgnc.symbol:1331 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch hgnc.symbol:C5 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch ncbigene:727 semapv:UnspecifiedMatching +OMIM:120920 CD46 skos:exactMatch hgnc.symbol:6953 semapv:UnspecifiedMatching +OMIM:120920 CD46 skos:exactMatch hgnc.symbol:CD46 semapv:UnspecifiedMatching +OMIM:120920 CD46 skos:exactMatch ncbigene:4179 semapv:UnspecifiedMatching +OMIM:120930 C8G skos:exactMatch hgnc.symbol:1354 semapv:UnspecifiedMatching +OMIM:120930 C8G skos:exactMatch hgnc.symbol:C8G semapv:UnspecifiedMatching +OMIM:120930 C8G skos:exactMatch ncbigene:733 semapv:UnspecifiedMatching +OMIM:120940 C9 skos:exactMatch hgnc.symbol:1358 semapv:UnspecifiedMatching +OMIM:120940 C9 skos:exactMatch hgnc.symbol:C9 semapv:UnspecifiedMatching +OMIM:120940 C9 skos:exactMatch ncbigene:735 semapv:UnspecifiedMatching +OMIM:120950 C8A skos:exactMatch hgnc.symbol:1352 semapv:UnspecifiedMatching +OMIM:120950 C8A skos:exactMatch hgnc.symbol:C8A semapv:UnspecifiedMatching +OMIM:120950 C8A skos:exactMatch ncbigene:731 semapv:UnspecifiedMatching +OMIM:120960 C8B skos:exactMatch hgnc.symbol:1353 semapv:UnspecifiedMatching +OMIM:120960 C8B skos:exactMatch hgnc.symbol:C8B semapv:UnspecifiedMatching +OMIM:120960 C8B skos:exactMatch ncbigene:732 semapv:UnspecifiedMatching +OMIM:120970 cone-rod dystrophy 2 skos:exactMatch MONDO:0007362 semapv:UnspecifiedMatching +OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:6149 semapv:UnspecifiedMatching +OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:ITGAM semapv:UnspecifiedMatching +OMIM:120980 ITGAM skos:exactMatch ncbigene:3684 semapv:UnspecifiedMatching +OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:2500 semapv:UnspecifiedMatching +OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:CCN2 semapv:UnspecifiedMatching +OMIM:121009 CCN2 skos:exactMatch ncbigene:1490 semapv:UnspecifiedMatching +OMIM:121010 PPBP skos:exactMatch hgnc.symbol:9240 semapv:UnspecifiedMatching +OMIM:121010 PPBP skos:exactMatch hgnc.symbol:PPBP semapv:UnspecifiedMatching +OMIM:121010 PPBP skos:exactMatch ncbigene:5473 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C1415077 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C1835672 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C2673759 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C2673760 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C2673761 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch UMLS:C5394556 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:4284 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:GJB2 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch ncbigene:2706 semapv:UnspecifiedMatching +OMIM:121012 GJA4 skos:exactMatch hgnc.symbol:4278 semapv:UnspecifiedMatching +OMIM:121012 GJA4 skos:exactMatch hgnc.symbol:GJA4 semapv:UnspecifiedMatching +OMIM:121012 GJA4 skos:exactMatch ncbigene:2701 semapv:UnspecifiedMatching +OMIM:121013 GJA5 skos:exactMatch hgnc.symbol:4279 semapv:UnspecifiedMatching +OMIM:121013 GJA5 skos:exactMatch hgnc.symbol:GJA5 semapv:UnspecifiedMatching +OMIM:121013 GJA5 skos:exactMatch ncbigene:2702 semapv:UnspecifiedMatching +OMIM:121014 GJA1 skos:exactMatch hgnc.symbol:4274 semapv:UnspecifiedMatching +OMIM:121014 GJA1 skos:exactMatch hgnc.symbol:GJA1 semapv:UnspecifiedMatching +OMIM:121014 GJA1 skos:exactMatch ncbigene:2697 semapv:UnspecifiedMatching +OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:4277 semapv:UnspecifiedMatching +OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:GJA3 semapv:UnspecifiedMatching +OMIM:121015 GJA3 skos:exactMatch ncbigene:2700 semapv:UnspecifiedMatching +OMIM:121050 contractural arachnodactyly, congenital skos:exactMatch MONDO:0007363 semapv:UnspecifiedMatching +OMIM:121070 arthrogryposis, distal, iia 2e skos:exactMatch MONDO:0007364 semapv:UnspecifiedMatching +OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch MONDO:0007365 semapv:UnspecifiedMatching +OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch Orphanet:1949 semapv:UnspecifiedMatching +OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching +OMIM:121201 seizures, benign familial neonatal, 2 skos:exactMatch MONDO:0007366 semapv:UnspecifiedMatching +OMIM:121210 febrile seizures, familial, 1 skos:exactMatch MONDO:0007367 semapv:UnspecifiedMatching +OMIM:121270 copper deficiency, familial benign skos:exactMatch MONDO:0007368 semapv:UnspecifiedMatching +OMIM:121300 coproporphyria, hereditary skos:exactMatch MONDO:0007369 semapv:UnspecifiedMatching +OMIM:121300 coproporphyria, hereditary skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching +OMIM:121300 coproporphyria, hereditary skos:exactMatch UMLS:C0162531 semapv:UnspecifiedMatching +OMIM:121350 coracoclavicular joint, anomalous skos:exactMatch MONDO:0007370 semapv:UnspecifiedMatching +OMIM:121360 CBFB skos:exactMatch hgnc.symbol:1539 semapv:UnspecifiedMatching +OMIM:121360 CBFB skos:exactMatch hgnc.symbol:CBFB semapv:UnspecifiedMatching +OMIM:121360 CBFB skos:exactMatch ncbigene:865 semapv:UnspecifiedMatching +OMIM:121390 cornea guttata with anterior polar cataracts skos:exactMatch MONDO:0007371 semapv:UnspecifiedMatching +OMIM:121400 cornea plana 1, autosomal dominant skos:exactMatch MONDO:0007372 semapv:UnspecifiedMatching +OMIM:121450 corneal degeneration, ribbonlike, with deafness skos:exactMatch MONDO:0007373 semapv:UnspecifiedMatching +OMIM:121800 schnyder corneal dystrophy skos:exactMatch MONDO:0007374 semapv:UnspecifiedMatching +OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch MONDO:0007375 semapv:UnspecifiedMatching +OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch Orphanet:98956 semapv:UnspecifiedMatching +OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching +OMIM:121850 corneal dystrophy, fleck skos:exactMatch MONDO:0007376 semapv:UnspecifiedMatching +OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch MONDO:0007377 semapv:UnspecifiedMatching +OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch Orphanet:98962 semapv:UnspecifiedMatching +OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching +OMIM:122000 corneal dystrophy, posterior polymorphous, 1 skos:exactMatch MONDO:0007378 semapv:UnspecifiedMatching +OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch MONDO:0020791 semapv:UnspecifiedMatching +OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching +OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching +OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching +OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch MONDO:0007380 semapv:UnspecifiedMatching +OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching +OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching +OMIM:122400 epithelial recurrent erosion dystrophy skos:exactMatch MONDO:0007381 semapv:UnspecifiedMatching +OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation skos:exactMatch MONDO:0007382 semapv:UnspecifiedMatching +OMIM:122440 corneodermatoosseous syndrome skos:exactMatch MONDO:0007383 semapv:UnspecifiedMatching +OMIM:122450 corneal hypesthesia, familial skos:exactMatch MONDO:0007384 semapv:UnspecifiedMatching +OMIM:122455 coronary artery dissection, spontaneous skos:exactMatch MONDO:0007385 semapv:UnspecifiedMatching +OMIM:122460 human coronavirus sensitivity skos:exactMatch MONDO:0007386 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch MONDO:0007387 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching +OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:1540 semapv:UnspecifiedMatching +OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:SERPINA6 semapv:UnspecifiedMatching +OMIM:122500 SERPINA6 skos:exactMatch ncbigene:866 semapv:UnspecifiedMatching +OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:2356 semapv:UnspecifiedMatching +OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:CRHBP semapv:UnspecifiedMatching +OMIM:122559 CRHBP skos:exactMatch ncbigene:1393 semapv:UnspecifiedMatching +OMIM:122560 CRH skos:exactMatch hgnc.symbol:2355 semapv:UnspecifiedMatching +OMIM:122560 CRH skos:exactMatch hgnc.symbol:CRH semapv:UnspecifiedMatching +OMIM:122560 CRH skos:exactMatch ncbigene:1392 semapv:UnspecifiedMatching +OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:2357 semapv:UnspecifiedMatching +OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:CRHR1 semapv:UnspecifiedMatching +OMIM:122561 CRHR1 skos:exactMatch ncbigene:1394 semapv:UnspecifiedMatching +OMIM:122580 costocoracoid ligament, congenitally short skos:exactMatch MONDO:0007388 semapv:UnspecifiedMatching +OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch MONDO:0007389 semapv:UnspecifiedMatching +OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch Orphanet:1797 semapv:UnspecifiedMatching +OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching +OMIM:122700 coumarin resistance skos:exactMatch MONDO:0007390 semapv:UnspecifiedMatching +OMIM:122700 coumarin resistance skos:exactMatch UMLS:C0750384 semapv:UnspecifiedMatching +OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:2610 semapv:UnspecifiedMatching +OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:CYP2A6 semapv:UnspecifiedMatching +OMIM:122720 CYP2A6 skos:exactMatch ncbigene:1548 semapv:UnspecifiedMatching +OMIM:122750 coxa vara skos:exactMatch MONDO:0007391 semapv:UnspecifiedMatching +OMIM:122780 coxoauricular syndrome skos:exactMatch MONDO:0007392 semapv:UnspecifiedMatching +OMIM:122850 cranioacrofacial syndrome skos:exactMatch MONDO:0007393 semapv:UnspecifiedMatching +OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch MONDO:0021021 semapv:UnspecifiedMatching +OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch MONDO:0007395 semapv:UnspecifiedMatching +OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 semapv:UnspecifiedMatching +OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch UMLS:C1852510 semapv:UnspecifiedMatching +OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia skos:exactMatch MONDO:0007396 semapv:UnspecifiedMatching +OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch MONDO:0007397 semapv:UnspecifiedMatching +OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching +OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1852502 semapv:UnspecifiedMatching +OMIM:123050 craniorhiny skos:exactMatch MONDO:0007398 semapv:UnspecifiedMatching +OMIM:123100 craniosynostosis 1 skos:exactMatch MONDO:0007399 semapv:UnspecifiedMatching +OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:7392 semapv:UnspecifiedMatching +OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:MSX2 semapv:UnspecifiedMatching +OMIM:123101 MSX2 skos:exactMatch ncbigene:4488 semapv:UnspecifiedMatching +OMIM:123150 jackson-weiss syndrome skos:exactMatch MONDO:0007400 semapv:UnspecifiedMatching +OMIM:123150 jackson-weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching +OMIM:123150 jackson-weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching +OMIM:123155 hydrocephalus, autosomal dominant skos:exactMatch MONDO:0007401 semapv:UnspecifiedMatching +OMIM:123260 CRP skos:exactMatch hgnc.symbol:2367 semapv:UnspecifiedMatching +OMIM:123260 CRP skos:exactMatch hgnc.symbol:CRP semapv:UnspecifiedMatching +OMIM:123260 CRP skos:exactMatch ncbigene:1401 semapv:UnspecifiedMatching +OMIM:123280 CKB skos:exactMatch hgnc.symbol:1991 semapv:UnspecifiedMatching +OMIM:123280 CKB skos:exactMatch hgnc.symbol:CKB semapv:UnspecifiedMatching +OMIM:123280 CKB skos:exactMatch ncbigene:1152 semapv:UnspecifiedMatching +OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:1995 semapv:UnspecifiedMatching +OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:CKMT1B semapv:UnspecifiedMatching +OMIM:123290 CKMT1B skos:exactMatch ncbigene:1159 semapv:UnspecifiedMatching +OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:1996 semapv:UnspecifiedMatching +OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:CKMT2 semapv:UnspecifiedMatching +OMIM:123295 CKMT2 skos:exactMatch ncbigene:1160 semapv:UnspecifiedMatching +OMIM:123310 CKM skos:exactMatch hgnc.symbol:1994 semapv:UnspecifiedMatching +OMIM:123310 CKM skos:exactMatch hgnc.symbol:CKM semapv:UnspecifiedMatching +OMIM:123310 CKM skos:exactMatch ncbigene:1158 semapv:UnspecifiedMatching +OMIM:123320 creatine phosphokinase, elevated serum skos:exactMatch MONDO:0007402 semapv:UnspecifiedMatching +OMIM:123400 creutzfeldt-jakob disease skos:exactMatch MONDO:0007403 semapv:UnspecifiedMatching +OMIM:123450 cri-du-chat syndrome skos:exactMatch MONDO:0007404 semapv:UnspecifiedMatching +OMIM:123450 cri-du-chat syndrome skos:exactMatch Orphanet:281 semapv:UnspecifiedMatching +OMIM:123450 cri-du-chat syndrome skos:exactMatch UMLS:C0010314 semapv:UnspecifiedMatching +OMIM:123500 crouzon syndrome skos:exactMatch MONDO:0007405 semapv:UnspecifiedMatching +OMIM:123540 cryofibrinogenemia, familial primary skos:exactMatch MONDO:0007406 semapv:UnspecifiedMatching +OMIM:123550 cryoglobulinemia, familial mixed skos:exactMatch MONDO:0007407 semapv:UnspecifiedMatching +OMIM:123557 cryptotia, familial skos:exactMatch MONDO:0007408 semapv:UnspecifiedMatching +OMIM:123560 cryptomicrotia-brachydactyly syndrome skos:exactMatch MONDO:0007409 semapv:UnspecifiedMatching +OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated skos:exactMatch MONDO:0007410 semapv:UnspecifiedMatching +OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:2388 semapv:UnspecifiedMatching +OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:CRYAA semapv:UnspecifiedMatching +OMIM:123580 CRYAA skos:exactMatch ncbigene:1409 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C0302254 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C1439328 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C3151236 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C3554649 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C4015991 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch UMLS:C4015992 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:2389 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:CRYAB semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch ncbigene:1410 semapv:UnspecifiedMatching +OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:2394 semapv:UnspecifiedMatching +OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:CRYBA1 semapv:UnspecifiedMatching +OMIM:123610 CRYBA1 skos:exactMatch ncbigene:1411 semapv:UnspecifiedMatching +OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:2398 semapv:UnspecifiedMatching +OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:CRYBB2 semapv:UnspecifiedMatching +OMIM:123620 CRYBB2 skos:exactMatch ncbigene:1415 semapv:UnspecifiedMatching +OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:2400 semapv:UnspecifiedMatching +OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:CRYBB3 semapv:UnspecifiedMatching +OMIM:123630 CRYBB3 skos:exactMatch ncbigene:1417 semapv:UnspecifiedMatching +OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:2396 semapv:UnspecifiedMatching +OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:CRYBA4 semapv:UnspecifiedMatching +OMIM:123631 CRYBA4 skos:exactMatch ncbigene:1413 semapv:UnspecifiedMatching +OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:2408 semapv:UnspecifiedMatching +OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:CRYGA semapv:UnspecifiedMatching +OMIM:123660 CRYGA skos:exactMatch ncbigene:1418 semapv:UnspecifiedMatching +OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:2409 semapv:UnspecifiedMatching +OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:CRYGB semapv:UnspecifiedMatching +OMIM:123670 CRYGB skos:exactMatch ncbigene:1419 semapv:UnspecifiedMatching +OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:2410 semapv:UnspecifiedMatching +OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:CRYGC semapv:UnspecifiedMatching +OMIM:123680 CRYGC skos:exactMatch ncbigene:1420 semapv:UnspecifiedMatching +OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:2411 semapv:UnspecifiedMatching +OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:CRYGD semapv:UnspecifiedMatching +OMIM:123690 CRYGD skos:exactMatch ncbigene:1421 semapv:UnspecifiedMatching +OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:2419 semapv:UnspecifiedMatching +OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:CRYZ semapv:UnspecifiedMatching +OMIM:123691 CRYZ skos:exactMatch ncbigene:1429 semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch UMLS:C1418396 semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch UMLS:C1837073 semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:8754 semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:PCYT1A semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch ncbigene:5130 semapv:UnspecifiedMatching +OMIM:123700 cutis laxa, autosomal dominant 1 skos:exactMatch MONDO:0007411 semapv:UnspecifiedMatching +OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:2417 semapv:UnspecifiedMatching +OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:CRYGS semapv:UnspecifiedMatching +OMIM:123730 CRYGS skos:exactMatch ncbigene:1427 semapv:UnspecifiedMatching +OMIM:123740 CRYM skos:exactMatch hgnc.symbol:2418 semapv:UnspecifiedMatching +OMIM:123740 CRYM skos:exactMatch hgnc.symbol:CRYM semapv:UnspecifiedMatching +OMIM:123740 CRYM skos:exactMatch ncbigene:1428 semapv:UnspecifiedMatching +OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch MONDO:0007412 semapv:UnspecifiedMatching +OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 semapv:UnspecifiedMatching +OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching +OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:783 semapv:UnspecifiedMatching +OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:ATF1 semapv:UnspecifiedMatching +OMIM:123803 ATF1 skos:exactMatch ncbigene:466 semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch UMLS:C1418418 semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch UMLS:C1862170 semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:8778 semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:PDE3A semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch ncbigene:5139 semapv:UnspecifiedMatching +OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:2345 semapv:UnspecifiedMatching +OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:CREB1 semapv:UnspecifiedMatching +OMIM:123810 CREB1 skos:exactMatch ncbigene:1385 semapv:UnspecifiedMatching +OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:784 semapv:UnspecifiedMatching +OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:ATF2 semapv:UnspecifiedMatching +OMIM:123811 ATF2 skos:exactMatch ncbigene:1386 semapv:UnspecifiedMatching +OMIM:123812 CREM skos:exactMatch hgnc.symbol:2352 semapv:UnspecifiedMatching +OMIM:123812 CREM skos:exactMatch hgnc.symbol:CREM semapv:UnspecifiedMatching +OMIM:123812 CREM skos:exactMatch ncbigene:1390 semapv:UnspecifiedMatching +OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:2148 semapv:UnspecifiedMatching +OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:CNGA1 semapv:UnspecifiedMatching +OMIM:123825 CNGA1 skos:exactMatch ncbigene:1259 semapv:UnspecifiedMatching +OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:1772 semapv:UnspecifiedMatching +OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:CDK3 semapv:UnspecifiedMatching +OMIM:123828 CDK3 skos:exactMatch ncbigene:1018 semapv:UnspecifiedMatching +OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:1773 semapv:UnspecifiedMatching +OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:CDK4 semapv:UnspecifiedMatching +OMIM:123829 CDK4 skos:exactMatch ncbigene:1019 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch UMLS:C1413553 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch hgnc.symbol:2158 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch hgnc.symbol:CNP semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch ncbigene:1267 semapv:UnspecifiedMatching +OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:1774 semapv:UnspecifiedMatching +OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:CDK5 semapv:UnspecifiedMatching +OMIM:123831 CDK5 skos:exactMatch ncbigene:1020 semapv:UnspecifiedMatching +OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:1791 semapv:UnspecifiedMatching +OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:CDKN3 semapv:UnspecifiedMatching +OMIM:123832 CDKN3 skos:exactMatch ncbigene:1033 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch UMLS:C1413173 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch UMLS:C4014742 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:1583 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:CCND2 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch ncbigene:894 semapv:UnspecifiedMatching +OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:1585 semapv:UnspecifiedMatching +OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:CCND3 semapv:UnspecifiedMatching +OMIM:123834 CCND3 skos:exactMatch ncbigene:896 semapv:UnspecifiedMatching +OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:1578 semapv:UnspecifiedMatching +OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:CCNA2 semapv:UnspecifiedMatching +OMIM:123835 CCNA2 skos:exactMatch ncbigene:890 semapv:UnspecifiedMatching +OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:1579 semapv:UnspecifiedMatching +OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:CCNB1 semapv:UnspecifiedMatching +OMIM:123836 CCNB1 skos:exactMatch ncbigene:891 semapv:UnspecifiedMatching +OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:1589 semapv:UnspecifiedMatching +OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:CCNE1 semapv:UnspecifiedMatching +OMIM:123837 CCNE1 skos:exactMatch ncbigene:898 semapv:UnspecifiedMatching +OMIM:123838 CCNC skos:exactMatch hgnc.symbol:1581 semapv:UnspecifiedMatching +OMIM:123838 CCNC skos:exactMatch hgnc.symbol:CCNC semapv:UnspecifiedMatching +OMIM:123838 CCNC skos:exactMatch ncbigene:892 semapv:UnspecifiedMatching +OMIM:123840 PPIA skos:exactMatch hgnc.symbol:9253 semapv:UnspecifiedMatching +OMIM:123840 PPIA skos:exactMatch hgnc.symbol:PPIA semapv:UnspecifiedMatching +OMIM:123840 PPIA skos:exactMatch ncbigene:5478 semapv:UnspecifiedMatching +OMIM:123841 PPIB skos:exactMatch hgnc.symbol:9255 semapv:UnspecifiedMatching +OMIM:123841 PPIB skos:exactMatch hgnc.symbol:PPIB semapv:UnspecifiedMatching +OMIM:123841 PPIB skos:exactMatch ncbigene:5479 semapv:UnspecifiedMatching +OMIM:123842 PPIC skos:exactMatch hgnc.symbol:9256 semapv:UnspecifiedMatching +OMIM:123842 PPIC skos:exactMatch hgnc.symbol:PPIC semapv:UnspecifiedMatching +OMIM:123842 PPIC skos:exactMatch ncbigene:5480 semapv:UnspecifiedMatching +OMIM:123853 cyprus facial neuromusculoskeletal syndrome skos:exactMatch MONDO:0007413 semapv:UnspecifiedMatching +OMIM:123855 CST1 skos:exactMatch hgnc.symbol:2473 semapv:UnspecifiedMatching +OMIM:123855 CST1 skos:exactMatch hgnc.symbol:CST1 semapv:UnspecifiedMatching +OMIM:123855 CST1 skos:exactMatch ncbigene:1469 semapv:UnspecifiedMatching +OMIM:123856 CST2 skos:exactMatch hgnc.symbol:2474 semapv:UnspecifiedMatching +OMIM:123856 CST2 skos:exactMatch hgnc.symbol:CST2 semapv:UnspecifiedMatching +OMIM:123856 CST2 skos:exactMatch ncbigene:1470 semapv:UnspecifiedMatching +OMIM:123857 CST4 skos:exactMatch hgnc.symbol:2476 semapv:UnspecifiedMatching +OMIM:123857 CST4 skos:exactMatch hgnc.symbol:CST4 semapv:UnspecifiedMatching +OMIM:123857 CST4 skos:exactMatch ncbigene:1472 semapv:UnspecifiedMatching +OMIM:123858 CST5 skos:exactMatch hgnc.symbol:2477 semapv:UnspecifiedMatching +OMIM:123858 CST5 skos:exactMatch hgnc.symbol:CST5 semapv:UnspecifiedMatching +OMIM:123858 CST5 skos:exactMatch ncbigene:1473 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch UMLS:C1413126 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:1493 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:CARS1 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch ncbigene:833 semapv:UnspecifiedMatching +OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:2519 semapv:UnspecifiedMatching +OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:CTPS1 semapv:UnspecifiedMatching +OMIM:123860 CTPS1 skos:exactMatch ncbigene:1503 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch UMLS:C1413634 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:2265 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:COX4I1 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch ncbigene:1327 semapv:UnspecifiedMatching +OMIM:123866 COX5B skos:exactMatch hgnc.symbol:2269 semapv:UnspecifiedMatching +OMIM:123866 COX5B skos:exactMatch hgnc.symbol:COX5B semapv:UnspecifiedMatching +OMIM:123866 COX5B skos:exactMatch ncbigene:1329 semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch UMLS:C1413661 semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch hgnc.symbol:2294 semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch hgnc.symbol:COX8A semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch ncbigene:1351 semapv:UnspecifiedMatching +OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:2360 semapv:UnspecifiedMatching +OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:CRIP1 semapv:UnspecifiedMatching +OMIM:123875 CRIP1 skos:exactMatch ncbigene:1396 semapv:UnspecifiedMatching +OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:2469 semapv:UnspecifiedMatching +OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:CSRP1 semapv:UnspecifiedMatching +OMIM:123876 CSRP1 skos:exactMatch ncbigene:1465 semapv:UnspecifiedMatching +OMIM:123880 cystic angiomatosis of bone, diffuse skos:exactMatch MONDO:0007414 semapv:UnspecifiedMatching +OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:10498 semapv:UnspecifiedMatching +OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:S100A8 semapv:UnspecifiedMatching +OMIM:123885 S100A8 skos:exactMatch ncbigene:6279 semapv:UnspecifiedMatching +OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:10499 semapv:UnspecifiedMatching +OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:S100A9 semapv:UnspecifiedMatching +OMIM:123886 S100A9 skos:exactMatch ncbigene:6280 semapv:UnspecifiedMatching +OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:5965 semapv:UnspecifiedMatching +OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:IL10RB semapv:UnspecifiedMatching +OMIM:123889 IL10RB skos:exactMatch ncbigene:3588 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C1332802 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C1833450 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C1852391 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C1857845 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C4015214 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch UMLS:C5436965 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:2505 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:CTLA4 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch ncbigene:1493 semapv:UnspecifiedMatching +OMIM:123900 EZR skos:exactMatch hgnc.symbol:12691 semapv:UnspecifiedMatching +OMIM:123900 EZR skos:exactMatch hgnc.symbol:EZR semapv:UnspecifiedMatching +OMIM:123900 EZR skos:exactMatch ncbigene:7430 semapv:UnspecifiedMatching +OMIM:123910 GZMB skos:exactMatch hgnc.symbol:4709 semapv:UnspecifiedMatching +OMIM:123910 GZMB skos:exactMatch hgnc.symbol:GZMB semapv:UnspecifiedMatching +OMIM:123910 GZMB skos:exactMatch ncbigene:3002 semapv:UnspecifiedMatching +OMIM:123920 CDA skos:exactMatch hgnc.symbol:1712 semapv:UnspecifiedMatching +OMIM:123920 CDA skos:exactMatch hgnc.symbol:CDA semapv:UnspecifiedMatching +OMIM:123920 CDA skos:exactMatch ncbigene:978 semapv:UnspecifiedMatching +OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:2615 semapv:UnspecifiedMatching +OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:CYP2B6 semapv:UnspecifiedMatching +OMIM:123930 CYP2B6 skos:exactMatch ncbigene:1555 semapv:UnspecifiedMatching +OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:6441 semapv:UnspecifiedMatching +OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:KRT4 semapv:UnspecifiedMatching +OMIM:123940 KRT4 skos:exactMatch ncbigene:3851 semapv:UnspecifiedMatching +OMIM:123970 CYCS skos:exactMatch hgnc.symbol:19986 semapv:UnspecifiedMatching +OMIM:123970 CYCS skos:exactMatch hgnc.symbol:CYCS semapv:UnspecifiedMatching +OMIM:123970 CYCS skos:exactMatch ncbigene:54205 semapv:UnspecifiedMatching +OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:2579 semapv:UnspecifiedMatching +OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:CYC1 semapv:UnspecifiedMatching +OMIM:123980 CYC1 skos:exactMatch ncbigene:1537 semapv:UnspecifiedMatching +OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:2287 semapv:UnspecifiedMatching +OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:COX7A1 semapv:UnspecifiedMatching +OMIM:123995 COX7A1 skos:exactMatch ncbigene:1346 semapv:UnspecifiedMatching +OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:2288 semapv:UnspecifiedMatching +OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:COX7A2 semapv:UnspecifiedMatching +OMIM:123996 COX7A2 skos:exactMatch ncbigene:1347 semapv:UnspecifiedMatching +OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:2290 semapv:UnspecifiedMatching +OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:COX7A2P2 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch MONDO:0007415 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C1176140 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4016007 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4017437 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:2637 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:CYP3A4 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch ncbigene:1576 semapv:UnspecifiedMatching +OMIM:124015 POR skos:exactMatch hgnc.symbol:9208 semapv:UnspecifiedMatching +OMIM:124015 POR skos:exactMatch hgnc.symbol:POR semapv:UnspecifiedMatching +OMIM:124015 POR skos:exactMatch ncbigene:5447 semapv:UnspecifiedMatching +OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:2621 semapv:UnspecifiedMatching +OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:CYP2C19 semapv:UnspecifiedMatching +OMIM:124020 CYP2C19 skos:exactMatch ncbigene:1557 semapv:UnspecifiedMatching +OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:2625 semapv:UnspecifiedMatching +OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:CYP2D6 semapv:UnspecifiedMatching +OMIM:124030 CYP2D6 skos:exactMatch ncbigene:1565 semapv:UnspecifiedMatching +OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:2631 semapv:UnspecifiedMatching +OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:CYP2E1 semapv:UnspecifiedMatching +OMIM:124040 CYP2E1 skos:exactMatch ncbigene:1571 semapv:UnspecifiedMatching +OMIM:124050 DAO skos:exactMatch hgnc.symbol:2671 semapv:UnspecifiedMatching +OMIM:124050 DAO skos:exactMatch hgnc.symbol:DAO semapv:UnspecifiedMatching +OMIM:124050 DAO skos:exactMatch ncbigene:1610 semapv:UnspecifiedMatching +OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:2596 semapv:UnspecifiedMatching +OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:CYP1A2 semapv:UnspecifiedMatching +OMIM:124060 CYP1A2 skos:exactMatch ncbigene:1544 semapv:UnspecifiedMatching +OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:2632 semapv:UnspecifiedMatching +OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:CYP2F1 semapv:UnspecifiedMatching +OMIM:124070 CYP2F1 skos:exactMatch ncbigene:1572 semapv:UnspecifiedMatching +OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:2644 semapv:UnspecifiedMatching +OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:CYP4B1 semapv:UnspecifiedMatching +OMIM:124075 CYP4B1 skos:exactMatch ncbigene:1580 semapv:UnspecifiedMatching +OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:2592 semapv:UnspecifiedMatching +OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:CYP11B2 semapv:UnspecifiedMatching +OMIM:124080 CYP11B2 skos:exactMatch ncbigene:1585 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch UMLS:C1539128 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:2280 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:COX6B1 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch ncbigene:1340 semapv:UnspecifiedMatching +OMIM:124090 COX6C skos:exactMatch hgnc.symbol:2285 semapv:UnspecifiedMatching +OMIM:124090 COX6C skos:exactMatch hgnc.symbol:COX6C semapv:UnspecifiedMatching +OMIM:124090 COX6C skos:exactMatch ncbigene:1345 semapv:UnspecifiedMatching +OMIM:124092 IL10 skos:exactMatch hgnc.symbol:5962 semapv:UnspecifiedMatching +OMIM:124092 IL10 skos:exactMatch hgnc.symbol:IL10 semapv:UnspecifiedMatching +OMIM:124092 IL10 skos:exactMatch ncbigene:3586 semapv:UnspecifiedMatching +OMIM:124095 CSK skos:exactMatch hgnc.symbol:2444 semapv:UnspecifiedMatching +OMIM:124095 CSK skos:exactMatch hgnc.symbol:CSK semapv:UnspecifiedMatching +OMIM:124095 CSK skos:exactMatch ncbigene:1445 semapv:UnspecifiedMatching +OMIM:124097 DBP skos:exactMatch UMLS:C1413924 semapv:UnspecifiedMatching +OMIM:124097 DBP skos:exactMatch hgnc.symbol:2697 semapv:UnspecifiedMatching +OMIM:124097 DBP skos:exactMatch hgnc.symbol:DBP semapv:UnspecifiedMatching +OMIM:124097 DBP skos:exactMatch ncbigene:1628 semapv:UnspecifiedMatching +OMIM:124100 danubian endemic familial nephropathy skos:exactMatch MONDO:0007416 semapv:UnspecifiedMatching +OMIM:124200 darier-white disease skos:exactMatch MONDO:0007417 semapv:UnspecifiedMatching +OMIM:124300 darwinian tubercle of pinna skos:exactMatch MONDO:0007418 semapv:UnspecifiedMatching +OMIM:124450 DDO skos:exactMatch hgnc.symbol:2727 semapv:UnspecifiedMatching +OMIM:124450 DDO skos:exactMatch hgnc.symbol:DDO semapv:UnspecifiedMatching +OMIM:124450 DDO skos:exactMatch ncbigene:8528 semapv:UnspecifiedMatching +OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant skos:exactMatch MONDO:0007420 semapv:UnspecifiedMatching +OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy skos:exactMatch MONDO:0007421 semapv:UnspecifiedMatching +OMIM:124500 vohwinkel syndrome skos:exactMatch MONDO:0007422 semapv:UnspecifiedMatching +OMIM:124500 vohwinkel syndrome skos:exactMatch Orphanet:494 semapv:UnspecifiedMatching +OMIM:124500 vohwinkel syndrome skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching +OMIM:124700 deafness, mid-tone neural skos:exactMatch MONDO:0007423 semapv:UnspecifiedMatching +OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch MONDO:0007424 semapv:UnspecifiedMatching +OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch Orphanet:494444 semapv:UnspecifiedMatching +OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching +OMIM:124950 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch MONDO:0007425 semapv:UnspecifiedMatching +OMIM:125000 deafness, unilateral skos:exactMatch MONDO:0007426 semapv:UnspecifiedMatching +OMIM:125050 deafness with anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0007427 semapv:UnspecifiedMatching +OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:2761 semapv:UnspecifiedMatching +OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:DEFA1 semapv:UnspecifiedMatching +OMIM:125220 DEFA1 skos:exactMatch ncbigene:1667 semapv:UnspecifiedMatching +OMIM:125230 deafness-craniofacial syndrome skos:exactMatch MONDO:0007428 semapv:UnspecifiedMatching +OMIM:125240 CD55 skos:exactMatch hgnc.symbol:2665 semapv:UnspecifiedMatching +OMIM:125240 CD55 skos:exactMatch hgnc.symbol:CD55 semapv:UnspecifiedMatching +OMIM:125240 CD55 skos:exactMatch ncbigene:1604 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch MONDO:0007429 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:3212 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching +OMIM:125255 DCN skos:exactMatch hgnc.symbol:2705 semapv:UnspecifiedMatching +OMIM:125255 DCN skos:exactMatch hgnc.symbol:DCN semapv:UnspecifiedMatching +OMIM:125255 DCN skos:exactMatch ncbigene:1634 semapv:UnspecifiedMatching +OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:11458 semapv:UnspecifiedMatching +OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:SULT2A1 semapv:UnspecifiedMatching +OMIM:125263 SULT2A1 skos:exactMatch ncbigene:6822 semapv:UnspecifiedMatching +OMIM:125264 DEK skos:exactMatch hgnc.symbol:2768 semapv:UnspecifiedMatching +OMIM:125264 DEK skos:exactMatch hgnc.symbol:DEK semapv:UnspecifiedMatching +OMIM:125264 DEK skos:exactMatch ncbigene:7913 semapv:UnspecifiedMatching +OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:30077 semapv:UnspecifiedMatching +OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:REEP5 semapv:UnspecifiedMatching +OMIM:125265 REEP5 skos:exactMatch ncbigene:7905 semapv:UnspecifiedMatching +OMIM:125270 ALAD skos:exactMatch hgnc.symbol:395 semapv:UnspecifiedMatching +OMIM:125270 ALAD skos:exactMatch hgnc.symbol:ALAD semapv:UnspecifiedMatching +OMIM:125270 ALAD skos:exactMatch ncbigene:210 semapv:UnspecifiedMatching +OMIM:125280 dens evaginatus skos:exactMatch MONDO:0007430 semapv:UnspecifiedMatching +OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:396 semapv:UnspecifiedMatching +OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:ALAS1 semapv:UnspecifiedMatching +OMIM:125290 ALAS1 skos:exactMatch ncbigene:211 semapv:UnspecifiedMatching +OMIM:125300 dens 1n dente and palatal invaginations skos:exactMatch MONDO:0007431 semapv:UnspecifiedMatching +OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:3382 semapv:UnspecifiedMatching +OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:DMTN semapv:UnspecifiedMatching +OMIM:125305 EPB49 skos:exactMatch ncbigene:2039 semapv:UnspecifiedMatching +OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch MONDO:0000914 semapv:UnspecifiedMatching +OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch Orphanet:136 semapv:UnspecifiedMatching +OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching +OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching +OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques skos:exactMatch MONDO:0007433 semapv:UnspecifiedMatching +OMIM:125350 failure of tooth eruption, primary skos:exactMatch MONDO:0007434 semapv:UnspecifiedMatching +OMIM:125350 failure of tooth eruption, primary skos:exactMatch Orphanet:412206 semapv:UnspecifiedMatching +OMIM:125350 failure of tooth eruption, primary skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching +OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch MONDO:0007435 semapv:UnspecifiedMatching +OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching +OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching +OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C2931846 semapv:UnspecifiedMatching +OMIM:125400 dentin dysplasia, iia 1 skos:exactMatch MONDO:0007436 semapv:UnspecifiedMatching +OMIM:125420 dentin dysplasia, iia 2 skos:exactMatch MONDO:0007437 semapv:UnspecifiedMatching +OMIM:125440 dentin dysplasia with sclerotic bones skos:exactMatch MONDO:0007438 semapv:UnspecifiedMatching +OMIM:125450 DCK skos:exactMatch hgnc.symbol:2704 semapv:UnspecifiedMatching +OMIM:125450 DCK skos:exactMatch hgnc.symbol:DCK semapv:UnspecifiedMatching +OMIM:125450 DCK skos:exactMatch ncbigene:1633 semapv:UnspecifiedMatching +OMIM:125460 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch MONDO:0007439 semapv:UnspecifiedMatching +OMIM:125480 major affective disorder 1 skos:exactMatch MONDO:0007440 semapv:UnspecifiedMatching +OMIM:125480 major affective disorder 1 skos:exactMatch UMLS:C1852197 semapv:UnspecifiedMatching +OMIM:125485 DSPP skos:exactMatch hgnc.symbol:3054 semapv:UnspecifiedMatching +OMIM:125485 DSPP skos:exactMatch hgnc.symbol:DSPP semapv:UnspecifiedMatching +OMIM:125485 DSPP skos:exactMatch ncbigene:1834 semapv:UnspecifiedMatching +OMIM:125490 dentinogenesis imperfecta 1 skos:exactMatch MONDO:0007441 semapv:UnspecifiedMatching +OMIM:125500 dentinogenesis imperfecta, shields iia 3 skos:exactMatch MONDO:0007442 semapv:UnspecifiedMatching +OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:2956 semapv:UnspecifiedMatching +OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:DNASE1 semapv:UnspecifiedMatching +OMIM:125505 DNASE1 skos:exactMatch ncbigene:1773 semapv:UnspecifiedMatching +OMIM:125520 cayler cardiofacial syndrome skos:exactMatch MONDO:0007443 semapv:UnspecifiedMatching +OMIM:125540 dermal ridges, patternless skos:exactMatch MONDO:0007444 semapv:UnspecifiedMatching +OMIM:125595 dermatopathia pigmentosa reticularis skos:exactMatch MONDO:0007445 semapv:UnspecifiedMatching +OMIM:125597 DPT skos:exactMatch hgnc.symbol:3011 semapv:UnspecifiedMatching +OMIM:125597 DPT skos:exactMatch hgnc.symbol:DPT semapv:UnspecifiedMatching +OMIM:125597 DPT skos:exactMatch ncbigene:1805 semapv:UnspecifiedMatching +OMIM:125600 dermatosis papulosa nigra skos:exactMatch MONDO:0007446 semapv:UnspecifiedMatching +OMIM:125630 vibratory urticaria skos:exactMatch MONDO:0007447 semapv:UnspecifiedMatching +OMIM:125635 dermographism, familial skos:exactMatch MONDO:0007448 semapv:UnspecifiedMatching +OMIM:125640 dermoodontodysplasia skos:exactMatch MONDO:0007449 semapv:UnspecifiedMatching +OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:3035 semapv:UnspecifiedMatching +OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:DSC1 semapv:UnspecifiedMatching +OMIM:125643 DSC1 skos:exactMatch ncbigene:1823 semapv:UnspecifiedMatching +OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:3036 semapv:UnspecifiedMatching +OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:DSC2 semapv:UnspecifiedMatching +OMIM:125645 DSC2 skos:exactMatch ncbigene:1824 semapv:UnspecifiedMatching +OMIM:125647 DSP skos:exactMatch hgnc.symbol:3052 semapv:UnspecifiedMatching +OMIM:125647 DSP skos:exactMatch hgnc.symbol:DSP semapv:UnspecifiedMatching +OMIM:125647 DSP skos:exactMatch ncbigene:1832 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch UMLS:C1413980 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch hgnc.symbol:2770 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch hgnc.symbol:DES semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch ncbigene:1674 semapv:UnspecifiedMatching +OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:3048 semapv:UnspecifiedMatching +OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:DSG1 semapv:UnspecifiedMatching +OMIM:125670 DSG1 skos:exactMatch ncbigene:1828 semapv:UnspecifiedMatching +OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:3049 semapv:UnspecifiedMatching +OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:DSG2 semapv:UnspecifiedMatching +OMIM:125671 DSG2 skos:exactMatch ncbigene:1829 semapv:UnspecifiedMatching +OMIM:125700 diabetes insipidus, neurohypophyseal skos:exactMatch MONDO:0007450 semapv:UnspecifiedMatching +OMIM:125800 diabetes insipidus, nephrogenic, 2, autosomal skos:exactMatch MONDO:0007451 semapv:UnspecifiedMatching +OMIM:125850 maturity-onset diabetes of the young, iia 1 skos:exactMatch MONDO:0007452 semapv:UnspecifiedMatching +OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch MONDO:0007453 semapv:UnspecifiedMatching +OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching +OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching +OMIM:125852 iia 1 diabetes mellitus 2 skos:exactMatch MONDO:0007454 semapv:UnspecifiedMatching +OMIM:125852 iia 1 diabetes mellitus 2 skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching +OMIM:125853 iia 2 diabetes mellitus skos:exactMatch MONDO:0005148 semapv:UnspecifiedMatching +OMIM:125853 iia 2 diabetes mellitus skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:125855 DGKA skos:exactMatch hgnc.symbol:2849 semapv:UnspecifiedMatching +OMIM:125855 DGKA skos:exactMatch hgnc.symbol:DGKA semapv:UnspecifiedMatching +OMIM:125855 DGKA skos:exactMatch ncbigene:1606 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C0919428 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C2675718 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C2675719 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch UMLS:C2675722 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:2874 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:NQO1 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch ncbigene:1728 semapv:UnspecifiedMatching +OMIM:125890 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch MONDO:0007456 semapv:UnspecifiedMatching +OMIM:125900 diastema, dental medial skos:exactMatch MONDO:0007457 semapv:UnspecifiedMatching +OMIM:125950 DBI skos:exactMatch hgnc.symbol:2690 semapv:UnspecifiedMatching +OMIM:125950 DBI skos:exactMatch hgnc.symbol:DBI semapv:UnspecifiedMatching +OMIM:125950 DBI skos:exactMatch ncbigene:1622 semapv:UnspecifiedMatching +OMIM:126050 digitotalar dysmorphism skos:exactMatch MONDO:0007458 semapv:UnspecifiedMatching +OMIM:126060 DHFR skos:exactMatch hgnc.symbol:2861 semapv:UnspecifiedMatching +OMIM:126060 DHFR skos:exactMatch hgnc.symbol:DHFR semapv:UnspecifiedMatching +OMIM:126060 DHFR skos:exactMatch ncbigene:1719 semapv:UnspecifiedMatching +OMIM:126063 DLST skos:exactMatch hgnc.symbol:2911 semapv:UnspecifiedMatching +OMIM:126063 DLST skos:exactMatch hgnc.symbol:DLST semapv:UnspecifiedMatching +OMIM:126063 DLST skos:exactMatch ncbigene:1743 semapv:UnspecifiedMatching +OMIM:126064 DHODH skos:exactMatch hgnc.symbol:2867 semapv:UnspecifiedMatching +OMIM:126064 DHODH skos:exactMatch hgnc.symbol:DHODH semapv:UnspecifiedMatching +OMIM:126064 DHODH skos:exactMatch ncbigene:1723 semapv:UnspecifiedMatching +OMIM:126065 CYP24A1 skos:exactMatch hgnc.symbol:2602 semapv:UnspecifiedMatching +OMIM:126065 CYP24A1 skos:exactMatch hgnc.symbol:CYP24A1 semapv:UnspecifiedMatching +OMIM:126065 CYP24A1 skos:exactMatch ncbigene:1591 semapv:UnspecifiedMatching +OMIM:126070 dilution, pigmentary skos:exactMatch MONDO:0007459 semapv:UnspecifiedMatching +OMIM:126090 PCBD1 skos:exactMatch hgnc.symbol:8646 semapv:UnspecifiedMatching +OMIM:126090 PCBD1 skos:exactMatch hgnc.symbol:PCBD1 semapv:UnspecifiedMatching +OMIM:126090 PCBD1 skos:exactMatch ncbigene:5092 semapv:UnspecifiedMatching +OMIM:126100 dimples, facial skos:exactMatch MONDO:0044227 semapv:UnspecifiedMatching +OMIM:126110 ARNT skos:exactMatch hgnc.symbol:700 semapv:UnspecifiedMatching +OMIM:126110 ARNT skos:exactMatch hgnc.symbol:ARNT semapv:UnspecifiedMatching +OMIM:126110 ARNT skos:exactMatch ncbigene:405 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch UMLS:C1414142 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch UMLS:C4225375 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:3010 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:DPP6 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch ncbigene:1804 semapv:UnspecifiedMatching +OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:3059 semapv:UnspecifiedMatching +OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:HBEGF semapv:UnspecifiedMatching +OMIM:126150 HBEGF skos:exactMatch ncbigene:1839 semapv:UnspecifiedMatching +OMIM:126180 discrimination, two-point, reduction 1n skos:exactMatch MONDO:0007460 semapv:UnspecifiedMatching +OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions skos:exactMatch MONDO:0007461 semapv:UnspecifiedMatching +OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch MONDO:0021571 semapv:UnspecifiedMatching +OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C1868685 semapv:UnspecifiedMatching +OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C3888106 semapv:UnspecifiedMatching +OMIM:126250 distal osteosclerosis skos:exactMatch MONDO:0007463 semapv:UnspecifiedMatching +OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:2915 semapv:UnspecifiedMatching +OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:DLX2 semapv:UnspecifiedMatching +OMIM:126255 DLX2 skos:exactMatch ncbigene:1746 semapv:UnspecifiedMatching +OMIM:126300 distichiasis skos:exactMatch MONDO:0007464 semapv:UnspecifiedMatching +OMIM:126320 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch MONDO:0007465 semapv:UnspecifiedMatching +OMIM:126330 DNCM skos:exactMatch ncbigene:1784 semapv:UnspecifiedMatching +OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:4095 semapv:UnspecifiedMatching +OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:GADD45A semapv:UnspecifiedMatching +OMIM:126335 GADD45A skos:exactMatch ncbigene:1647 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch UMLS:C1413947 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:2726 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:DDIT3 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch ncbigene:1649 semapv:UnspecifiedMatching +OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:3434 semapv:UnspecifiedMatching +OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:ERCC2 semapv:UnspecifiedMatching +OMIM:126340 ERCC2 skos:exactMatch ncbigene:2068 semapv:UnspecifiedMatching +OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:2960 semapv:UnspecifiedMatching +OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:DNASE2 semapv:UnspecifiedMatching +OMIM:126350 DNASE2 skos:exactMatch ncbigene:1777 semapv:UnspecifiedMatching +OMIM:126370 dna, satellite, 3 skos:exactMatch MONDO:0007466 semapv:UnspecifiedMatching +OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:2976 semapv:UnspecifiedMatching +OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:DNMT1 semapv:UnspecifiedMatching +OMIM:126375 DNMT1 skos:exactMatch ncbigene:1786 semapv:UnspecifiedMatching +OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:3433 semapv:UnspecifiedMatching +OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:ERCC1 semapv:UnspecifiedMatching +OMIM:126380 ERCC1 skos:exactMatch ncbigene:2067 semapv:UnspecifiedMatching +OMIM:126390 dna, low-repetitive sequences of skos:exactMatch MONDO:0007467 semapv:UnspecifiedMatching +OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:6598 semapv:UnspecifiedMatching +OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:LIG1 semapv:UnspecifiedMatching +OMIM:126391 LIG1 skos:exactMatch ncbigene:3978 semapv:UnspecifiedMatching +OMIM:126410 dna, satellite, alpha iia skos:exactMatch MONDO:0007468 semapv:UnspecifiedMatching +OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:11986 semapv:UnspecifiedMatching +OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:TOP1 semapv:UnspecifiedMatching +OMIM:126420 TOP1 skos:exactMatch ncbigene:7150 semapv:UnspecifiedMatching +OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:11989 semapv:UnspecifiedMatching +OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:TOP2A semapv:UnspecifiedMatching +OMIM:126430 TOP2A skos:exactMatch ncbigene:7153 semapv:UnspecifiedMatching +OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:11990 semapv:UnspecifiedMatching +OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:TOP2B semapv:UnspecifiedMatching +OMIM:126431 TOP2B skos:exactMatch ncbigene:7155 semapv:UnspecifiedMatching +OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:3020 semapv:UnspecifiedMatching +OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:DRD1 semapv:UnspecifiedMatching +OMIM:126449 DRD1 skos:exactMatch ncbigene:1812 semapv:UnspecifiedMatching +OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:3023 semapv:UnspecifiedMatching +OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:DRD2 semapv:UnspecifiedMatching +OMIM:126450 DRD2 skos:exactMatch ncbigene:1813 semapv:UnspecifiedMatching +OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:3024 semapv:UnspecifiedMatching +OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:DRD3 semapv:UnspecifiedMatching +OMIM:126451 DRD3 skos:exactMatch ncbigene:1814 semapv:UnspecifiedMatching +OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:3025 semapv:UnspecifiedMatching +OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:DRD4 semapv:UnspecifiedMatching +OMIM:126452 DRD4 skos:exactMatch ncbigene:1815 semapv:UnspecifiedMatching +OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:3026 semapv:UnspecifiedMatching +OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:DRD5 semapv:UnspecifiedMatching +OMIM:126453 DRD5 skos:exactMatch ncbigene:1816 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch UMLS:C1420213 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4747621 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:11049 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:SLC6A3 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch ncbigene:6531 semapv:UnspecifiedMatching +OMIM:126500 double nail for fifth toe skos:exactMatch MONDO:0007469 semapv:UnspecifiedMatching +OMIM:126550 calvarial doughnut lesions with bone fragility skos:exactMatch MONDO:0007470 semapv:UnspecifiedMatching +OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch MONDO:0007471 semapv:UnspecifiedMatching +OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching +OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching +OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1852020 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch UMLS:C1335836 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:3018 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:SLC26A3 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch ncbigene:1811 semapv:UnspecifiedMatching +OMIM:126660 DBN1 skos:exactMatch hgnc.symbol:2695 semapv:UnspecifiedMatching +OMIM:126660 DBN1 skos:exactMatch hgnc.symbol:DBN1 semapv:UnspecifiedMatching +OMIM:126660 DBN1 skos:exactMatch ncbigene:1627 semapv:UnspecifiedMatching +OMIM:126700 basal laminar drusen skos:exactMatch MONDO:0007472 semapv:UnspecifiedMatching +OMIM:126700 basal laminar drusen skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching +OMIM:126700 basal laminar drusen skos:exactMatch UMLS:C0730295 semapv:UnspecifiedMatching +OMIM:126800 duane retraction syndrome 1 skos:exactMatch MONDO:0024265 semapv:UnspecifiedMatching +OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction skos:exactMatch MONDO:0007474 semapv:UnspecifiedMatching +OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch MONDO:0007475 semapv:UnspecifiedMatching +OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching +OMIM:126900 dupuytren contracture skos:exactMatch MONDO:0007476 semapv:UnspecifiedMatching +OMIM:126950 dwarfism with tall vertebrae skos:exactMatch MONDO:0020792 semapv:UnspecifiedMatching +OMIM:127000 kenny-caffey syndrome, iia 2 skos:exactMatch MONDO:0007478 semapv:UnspecifiedMatching +OMIM:127100 dwarfism, levi iia skos:exactMatch MONDO:0007479 semapv:UnspecifiedMatching +OMIM:127200 dwarfism with stiff joints and ocular abnormalities skos:exactMatch MONDO:0007480 semapv:UnspecifiedMatching +OMIM:127300 leri-weill dyschondrosteosis skos:exactMatch MONDO:0007481 semapv:UnspecifiedMatching +OMIM:127350 dyschondrosteosis and nephritis skos:exactMatch MONDO:0007482 semapv:UnspecifiedMatching +OMIM:127400 dyschromatosis symmetrica hereditaria skos:exactMatch MONDO:0007483 semapv:UnspecifiedMatching +OMIM:127500 dyschromatosis universalis hereditaria 1 skos:exactMatch MONDO:0024524 semapv:UnspecifiedMatching +OMIM:127550 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch MONDO:0007485 semapv:UnspecifiedMatching +OMIM:127600 dyskeratosis, hereditary benign intraepithelial skos:exactMatch MONDO:0007486 semapv:UnspecifiedMatching +OMIM:127700 dyslexia, susceptibility to, 1 skos:exactMatch MONDO:0007487 semapv:UnspecifiedMatching +OMIM:127750 dementia, lewy body skos:exactMatch MONDO:0007488 semapv:UnspecifiedMatching +OMIM:127800 dysplasia epiphysealis hemimelica skos:exactMatch MONDO:0007489 semapv:UnspecifiedMatching +OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas skos:exactMatch MONDO:0007490 semapv:UnspecifiedMatching +OMIM:128000 dystelephalangy skos:exactMatch MONDO:0007491 semapv:UnspecifiedMatching +OMIM:128100 dystonia 1, torsion, autosomal dominant skos:exactMatch MONDO:0007492 semapv:UnspecifiedMatching +OMIM:128101 dystonia 4, torsion, autosomal dominant skos:exactMatch MONDO:0007493 semapv:UnspecifiedMatching +OMIM:128200 episodic kinesigenic dyskinesia 1 skos:exactMatch MONDO:0100352 semapv:UnspecifiedMatching +OMIM:128230 dystonia, dopa-responsive skos:exactMatch MONDO:0007495 semapv:UnspecifiedMatching +OMIM:128230 dystonia, dopa-responsive skos:exactMatch Orphanet:98808 semapv:UnspecifiedMatching +OMIM:128230 dystonia, dopa-responsive skos:exactMatch UMLS:C1851920 semapv:UnspecifiedMatching +OMIM:128235 dystonia 12 skos:exactMatch MONDO:0007496 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch UMLS:C1413902 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch UMLS:C3151184 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch UMLS:C4225291 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:2666 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:DAG1 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch ncbigene:1605 semapv:UnspecifiedMatching +OMIM:128240 UTRN skos:exactMatch hgnc.symbol:12635 semapv:UnspecifiedMatching +OMIM:128240 UTRN skos:exactMatch hgnc.symbol:UTRN semapv:UnspecifiedMatching +OMIM:128240 UTRN skos:exactMatch ncbigene:7402 semapv:UnspecifiedMatching +OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:11161 semapv:UnspecifiedMatching +OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:SNRPE semapv:UnspecifiedMatching +OMIM:128260 SNRPE skos:exactMatch ncbigene:6635 semapv:UnspecifiedMatching +OMIM:128290 ear antitragus, tag at base of skos:exactMatch MONDO:0007497 semapv:UnspecifiedMatching +OMIM:128300 ear exostoses skos:exactMatch MONDO:0007498 semapv:UnspecifiedMatching +OMIM:128500 ear folding skos:exactMatch MONDO:0007499 semapv:UnspecifiedMatching +OMIM:128600 ear malformation skos:exactMatch MONDO:0007500 semapv:UnspecifiedMatching +OMIM:128700 preauricular fistulae, congenital skos:exactMatch MONDO:0007501 semapv:UnspecifiedMatching +OMIM:128710 ear pits, posterior helical skos:exactMatch MONDO:0007502 semapv:UnspecifiedMatching +OMIM:128800 ear without helix skos:exactMatch MONDO:0007503 semapv:UnspecifiedMatching +OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities skos:exactMatch MONDO:0007504 semapv:UnspecifiedMatching +OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:3238 semapv:UnspecifiedMatching +OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:EGR1 semapv:UnspecifiedMatching +OMIM:128990 EGR1 skos:exactMatch ncbigene:1958 semapv:UnspecifiedMatching +OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:3241 semapv:UnspecifiedMatching +OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:EGR4 semapv:UnspecifiedMatching +OMIM:128992 EGR4 skos:exactMatch ncbigene:1961 semapv:UnspecifiedMatching +OMIM:129000 earring holes, natural skos:exactMatch MONDO:0007505 semapv:UnspecifiedMatching +OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:3239 semapv:UnspecifiedMatching +OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:EGR2 semapv:UnspecifiedMatching +OMIM:129010 EGR2 skos:exactMatch ncbigene:1959 semapv:UnspecifiedMatching +OMIM:129150 echo virus 11 sensitivity skos:exactMatch MONDO:0007506 semapv:UnspecifiedMatching +OMIM:129190 NT5E skos:exactMatch hgnc.symbol:8021 semapv:UnspecifiedMatching +OMIM:129190 NT5E skos:exactMatch hgnc.symbol:NT5E semapv:UnspecifiedMatching +OMIM:129190 NT5E skos:exactMatch ncbigene:4907 semapv:UnspecifiedMatching +OMIM:129200 basan syndrome skos:exactMatch MONDO:0007507 semapv:UnspecifiedMatching +OMIM:129200 basan syndrome skos:exactMatch Orphanet:1658 semapv:UnspecifiedMatching +OMIM:129200 basan syndrome skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch MONDO:0007508 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:3022 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching +OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch MONDO:0007509 semapv:UnspecifiedMatching +OMIM:129500 clouston syndrome skos:exactMatch MONDO:0007510 semapv:UnspecifiedMatching +OMIM:129510 ectodermal dysplasia, trichoodontoonychial iia skos:exactMatch MONDO:0007511 semapv:UnspecifiedMatching +OMIM:129540 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch MONDO:0007512 semapv:UnspecifiedMatching +OMIM:129550 ectodermal dysplasia with adrenal cyst skos:exactMatch MONDO:0007513 semapv:UnspecifiedMatching +OMIM:129600 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch MONDO:0007514 semapv:UnspecifiedMatching +OMIM:129750 ectopia pupillae skos:exactMatch MONDO:0007515 semapv:UnspecifiedMatching +OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch MONDO:0007516 semapv:UnspecifiedMatching +OMIM:129830 ectrodactyly-cleft palate syndrome skos:exactMatch MONDO:0007517 semapv:UnspecifiedMatching +OMIM:129840 edema, familial idiopathic, prepubertal skos:exactMatch MONDO:0007518 semapv:UnspecifiedMatching +OMIM:129850 edinburgh malformation syndrome skos:exactMatch MONDO:0007519 semapv:UnspecifiedMatching +OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:exactMatch MONDO:0007520 semapv:UnspecifiedMatching +OMIM:129905 egasyn skos:exactMatch MONDO:0007521 semapv:UnspecifiedMatching +OMIM:130000 ehlers-danlos syndrome, classic type, 1 skos:exactMatch MONDO:0019567 semapv:UnspecifiedMatching +OMIM:130010 ehlers-danlos syndrome, classic type, 2 skos:exactMatch MONDO:0019568 semapv:UnspecifiedMatching +OMIM:130020 ehlers-danlos syndrome, hypermobility iia skos:exactMatch MONDO:0007523 semapv:UnspecifiedMatching +OMIM:130050 ehlers-danlos syndrome, vascular iia skos:exactMatch MONDO:0007524 semapv:UnspecifiedMatching +OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch MONDO:0007525 semapv:UnspecifiedMatching +OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch Orphanet:1899 semapv:UnspecifiedMatching +OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching +OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 skos:exactMatch MONDO:0020682 semapv:UnspecifiedMatching +OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch MONDO:0020684 semapv:UnspecifiedMatching +OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch Orphanet:75392 semapv:UnspecifiedMatching +OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C0268347 semapv:UnspecifiedMatching +OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C4551499 semapv:UnspecifiedMatching +OMIM:130090 ehlers-danlos syndrome, autosomal dominant, iia unspecified skos:exactMatch MONDO:0007528 semapv:UnspecifiedMatching +OMIM:130100 elastosis perforans serpiginosa skos:exactMatch MONDO:0007529 semapv:UnspecifiedMatching +OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:3308 semapv:UnspecifiedMatching +OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:CELA1 semapv:UnspecifiedMatching +OMIM:130120 CELA1 skos:exactMatch ncbigene:1990 semapv:UnspecifiedMatching +OMIM:130130 ELANE skos:exactMatch hgnc.symbol:3309 semapv:UnspecifiedMatching +OMIM:130130 ELANE skos:exactMatch hgnc.symbol:ELANE semapv:UnspecifiedMatching +OMIM:130130 ELANE skos:exactMatch ncbigene:1991 semapv:UnspecifiedMatching +OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:3311 semapv:UnspecifiedMatching +OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:SERPINB1 semapv:UnspecifiedMatching +OMIM:130135 SERPINB1 skos:exactMatch ncbigene:1992 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch UMLS:C0003499 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch UMLS:C1414382 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch hgnc.symbol:3327 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch hgnc.symbol:ELN semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch ncbigene:2006 semapv:UnspecifiedMatching +OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus skos:exactMatch MONDO:0044228 semapv:UnspecifiedMatching +OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch MONDO:0007530 semapv:UnspecifiedMatching +OMIM:130300 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch MONDO:0007531 semapv:UnspecifiedMatching +OMIM:130400 electroencephalographic peculiarity: occipital slow beta waves skos:exactMatch MONDO:0007532 semapv:UnspecifiedMatching +OMIM:130410 ETFB skos:exactMatch hgnc.symbol:3482 semapv:UnspecifiedMatching +OMIM:130410 ETFB skos:exactMatch hgnc.symbol:ETFB semapv:UnspecifiedMatching +OMIM:130410 ETFB skos:exactMatch ncbigene:2109 semapv:UnspecifiedMatching +OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:3377 semapv:UnspecifiedMatching +OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:EPB41 semapv:UnspecifiedMatching +OMIM:130500 EPB41 skos:exactMatch ncbigene:2035 semapv:UnspecifiedMatching +OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:3189 semapv:UnspecifiedMatching +OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:EEF1A1 semapv:UnspecifiedMatching +OMIM:130590 EEF1A1 skos:exactMatch ncbigene:1915 semapv:UnspecifiedMatching +OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:3211 semapv:UnspecifiedMatching +OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:EEF1D semapv:UnspecifiedMatching +OMIM:130592 EEF1D skos:exactMatch ncbigene:1936 semapv:UnspecifiedMatching +OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:3213 semapv:UnspecifiedMatching +OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:EEF1G semapv:UnspecifiedMatching +OMIM:130593 EEF1G skos:exactMatch ncbigene:1937 semapv:UnspecifiedMatching +OMIM:130600 elliptocytosis 2 skos:exactMatch MONDO:0007533 semapv:UnspecifiedMatching +OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:3214 semapv:UnspecifiedMatching +OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:EEF2 semapv:UnspecifiedMatching +OMIM:130610 EEF2 skos:exactMatch ncbigene:1938 semapv:UnspecifiedMatching +OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:10387 semapv:UnspecifiedMatching +OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:RPS14 semapv:UnspecifiedMatching +OMIM:130620 RPS14 skos:exactMatch ncbigene:6208 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch MONDO:0007534 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:116 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:231120 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:238613 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C0004903 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C1851719 semapv:UnspecifiedMatching +OMIM:130660 EMILIN1 skos:exactMatch hgnc.symbol:19880 semapv:UnspecifiedMatching +OMIM:130660 EMILIN1 skos:exactMatch hgnc.symbol:EMILIN1 semapv:UnspecifiedMatching +OMIM:130660 EMILIN1 skos:exactMatch ncbigene:11117 semapv:UnspecifiedMatching +OMIM:130700 emphysema, hereditary pulmonary skos:exactMatch MONDO:0007535 semapv:UnspecifiedMatching +OMIM:130710 emphysema, congenital lobar skos:exactMatch MONDO:0007536 semapv:UnspecifiedMatching +OMIM:130720 lateral meningocele syndrome skos:exactMatch MONDO:0007537 semapv:UnspecifiedMatching +OMIM:130900 amelogenesis imperfecta, iia 3a skos:exactMatch MONDO:0007538 semapv:UnspecifiedMatching +OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch MONDO:0007539 semapv:UnspecifiedMatching +OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch Orphanet:2672 semapv:UnspecifiedMatching +OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch UMLS:C1851708 semapv:UnspecifiedMatching +OMIM:131100 multiple endocrine neoplasia, iia 1 skos:exactMatch MONDO:0007540 semapv:UnspecifiedMatching +OMIM:131170 ERV3 skos:exactMatch hgnc.symbol:3454 semapv:UnspecifiedMatching +OMIM:131170 ERV3 skos:exactMatch hgnc.symbol:ERV3-1 semapv:UnspecifiedMatching +OMIM:131170 ERV3 skos:exactMatch ncbigene:2086 semapv:UnspecifiedMatching +OMIM:131190 endogenous retroviral pol-like sequence-1 skos:exactMatch UMLS:C1414445 semapv:UnspecifiedMatching +OMIM:131195 ENG skos:exactMatch hgnc.symbol:3349 semapv:UnspecifiedMatching +OMIM:131195 ENG skos:exactMatch hgnc.symbol:ENG semapv:UnspecifiedMatching +OMIM:131195 ENG skos:exactMatch ncbigene:2022 semapv:UnspecifiedMatching +OMIM:131200 endometriosis, susceptibility to, 1 skos:exactMatch MONDO:0007541 semapv:UnspecifiedMatching +OMIM:131210 SELE skos:exactMatch hgnc.symbol:10718 semapv:UnspecifiedMatching +OMIM:131210 SELE skos:exactMatch hgnc.symbol:SELE semapv:UnspecifiedMatching +OMIM:131210 SELE skos:exactMatch ncbigene:6401 semapv:UnspecifiedMatching +OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:3665 semapv:UnspecifiedMatching +OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:FGF1 semapv:UnspecifiedMatching +OMIM:131220 FGF1 skos:exactMatch ncbigene:2246 semapv:UnspecifiedMatching +OMIM:131222 TYMP skos:exactMatch hgnc.symbol:3148 semapv:UnspecifiedMatching +OMIM:131222 TYMP skos:exactMatch hgnc.symbol:TYMP semapv:UnspecifiedMatching +OMIM:131222 TYMP skos:exactMatch ncbigene:1890 semapv:UnspecifiedMatching +OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:543 semapv:UnspecifiedMatching +OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:ANXA5 semapv:UnspecifiedMatching +OMIM:131230 ANXA5 skos:exactMatch ncbigene:308 semapv:UnspecifiedMatching +OMIM:131235 KDELR1 skos:exactMatch hgnc.symbol:6304 semapv:UnspecifiedMatching +OMIM:131235 KDELR1 skos:exactMatch hgnc.symbol:KDELR1 semapv:UnspecifiedMatching +OMIM:131235 KDELR1 skos:exactMatch ncbigene:10945 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch UMLS:C1414260 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch UMLS:C2748545 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch UMLS:C3810332 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch UMLS:C5436939 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch hgnc.symbol:3176 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch hgnc.symbol:EDN1 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch ncbigene:1906 semapv:UnspecifiedMatching +OMIM:131241 EDN2 skos:exactMatch UMLS:C1333329 semapv:UnspecifiedMatching +OMIM:131241 EDN2 skos:exactMatch hgnc.symbol:3177 semapv:UnspecifiedMatching +OMIM:131241 EDN2 skos:exactMatch hgnc.symbol:EDN2 semapv:UnspecifiedMatching +OMIM:131241 EDN2 skos:exactMatch ncbigene:1907 semapv:UnspecifiedMatching +OMIM:131242 EDN3 skos:exactMatch hgnc.symbol:3178 semapv:UnspecifiedMatching +OMIM:131242 EDN3 skos:exactMatch hgnc.symbol:EDN3 semapv:UnspecifiedMatching +OMIM:131242 EDN3 skos:exactMatch ncbigene:1908 semapv:UnspecifiedMatching +OMIM:131243 EDNRA skos:exactMatch hgnc.symbol:3179 semapv:UnspecifiedMatching +OMIM:131243 EDNRA skos:exactMatch hgnc.symbol:EDNRA semapv:UnspecifiedMatching +OMIM:131243 EDNRA skos:exactMatch ncbigene:1909 semapv:UnspecifiedMatching +OMIM:131244 EDNRB skos:exactMatch hgnc.symbol:3180 semapv:UnspecifiedMatching +OMIM:131244 EDNRB skos:exactMatch hgnc.symbol:EDNRB semapv:UnspecifiedMatching +OMIM:131244 EDNRB skos:exactMatch ncbigene:1910 semapv:UnspecifiedMatching +OMIM:131290 EN1 skos:exactMatch hgnc.symbol:3342 semapv:UnspecifiedMatching +OMIM:131290 EN1 skos:exactMatch hgnc.symbol:EN1 semapv:UnspecifiedMatching +OMIM:131290 EN1 skos:exactMatch ncbigene:2019 semapv:UnspecifiedMatching +OMIM:131300 camurati-engelmann disease skos:exactMatch MONDO:0007542 semapv:UnspecifiedMatching +OMIM:131310 EN2 skos:exactMatch hgnc.symbol:3343 semapv:UnspecifiedMatching +OMIM:131310 EN2 skos:exactMatch hgnc.symbol:EN2 semapv:UnspecifiedMatching +OMIM:131310 EN2 skos:exactMatch ncbigene:2020 semapv:UnspecifiedMatching +OMIM:131320 GATA3 skos:exactMatch hgnc.symbol:4172 semapv:UnspecifiedMatching +OMIM:131320 GATA3 skos:exactMatch hgnc.symbol:GATA3 semapv:UnspecifiedMatching +OMIM:131320 GATA3 skos:exactMatch ncbigene:2625 semapv:UnspecifiedMatching +OMIM:131330 PENK skos:exactMatch hgnc.symbol:8831 semapv:UnspecifiedMatching +OMIM:131330 PENK skos:exactMatch hgnc.symbol:PENK semapv:UnspecifiedMatching +OMIM:131330 PENK skos:exactMatch ncbigene:5179 semapv:UnspecifiedMatching +OMIM:131340 PDYN skos:exactMatch hgnc.symbol:8820 semapv:UnspecifiedMatching +OMIM:131340 PDYN skos:exactMatch hgnc.symbol:PDYN semapv:UnspecifiedMatching +OMIM:131340 PDYN skos:exactMatch ncbigene:5173 semapv:UnspecifiedMatching +OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:3353 semapv:UnspecifiedMatching +OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:ENO2 semapv:UnspecifiedMatching +OMIM:131360 ENO2 skos:exactMatch ncbigene:2026 semapv:UnspecifiedMatching +OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:3354 semapv:UnspecifiedMatching +OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:ENO3 semapv:UnspecifiedMatching +OMIM:131370 ENO3 skos:exactMatch ncbigene:2027 semapv:UnspecifiedMatching +OMIM:131375 ENO4 skos:exactMatch MONDO:0007543 semapv:UnspecifiedMatching +OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:31670 semapv:UnspecifiedMatching +OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:ENO4 semapv:UnspecifiedMatching +OMIM:131375 ENO4 skos:exactMatch ncbigene:387712 semapv:UnspecifiedMatching +OMIM:131390 NID1 skos:exactMatch hgnc.symbol:7821 semapv:UnspecifiedMatching +OMIM:131390 NID1 skos:exactMatch hgnc.symbol:NID1 semapv:UnspecifiedMatching +OMIM:131390 NID1 skos:exactMatch ncbigene:4811 semapv:UnspecifiedMatching +OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:10046 semapv:UnspecifiedMatching +OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:RNASE3 semapv:UnspecifiedMatching +OMIM:131398 RNASE3 skos:exactMatch ncbigene:6037 semapv:UnspecifiedMatching +OMIM:131399 EPX skos:exactMatch hgnc.symbol:3423 semapv:UnspecifiedMatching +OMIM:131399 EPX skos:exactMatch hgnc.symbol:EPX semapv:UnspecifiedMatching +OMIM:131399 EPX skos:exactMatch ncbigene:8288 semapv:UnspecifiedMatching +OMIM:131400 eosinophilia, familial skos:exactMatch MONDO:0007544 semapv:UnspecifiedMatching +OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:10045 semapv:UnspecifiedMatching +OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:RNASE2 semapv:UnspecifiedMatching +OMIM:131410 RNASE2 skos:exactMatch ncbigene:6036 semapv:UnspecifiedMatching +OMIM:131430 eosinophilopenia skos:exactMatch MONDO:0007545 semapv:UnspecifiedMatching +OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch MONDO:0007546 semapv:UnspecifiedMatching +OMIM:131450 epiblepharon of lower 51d skos:exactMatch MONDO:0044229 semapv:UnspecifiedMatching +OMIM:131460 epiblepharon of upper 51d skos:exactMatch MONDO:0044230 semapv:UnspecifiedMatching +OMIM:131530 EGF skos:exactMatch hgnc.symbol:3229 semapv:UnspecifiedMatching +OMIM:131530 EGF skos:exactMatch hgnc.symbol:EGF semapv:UnspecifiedMatching +OMIM:131530 EGF skos:exactMatch ncbigene:1950 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C1414313 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C1851577 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C4016032 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch UMLS:C4016033 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch hgnc.symbol:3236 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch hgnc.symbol:EGFR semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch ncbigene:1956 semapv:UnspecifiedMatching +OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:3758 semapv:UnspecifiedMatching +OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:FLOT2 semapv:UnspecifiedMatching +OMIM:131560 FLOT2 skos:exactMatch ncbigene:2319 semapv:UnspecifiedMatching +OMIM:131600 epidermoid cysts skos:exactMatch MONDO:0007547 semapv:UnspecifiedMatching +OMIM:131705 transient bullous dermolysis of the newborn skos:exactMatch MONDO:0007548 semapv:UnspecifiedMatching +OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant skos:exactMatch MONDO:0007549 semapv:UnspecifiedMatching +OMIM:131760 epidermolysis bullosa simplex 1a, generalized severe skos:exactMatch MONDO:0007550 semapv:UnspecifiedMatching +OMIM:131800 epidermolysis bullosa simplex 1c, localized skos:exactMatch MONDO:0007551 semapv:UnspecifiedMatching +OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch MONDO:0007552 semapv:UnspecifiedMatching +OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch Orphanet:79410 semapv:UnspecifiedMatching +OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch UMLS:C0432321 semapv:UnspecifiedMatching +OMIM:131880 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch MONDO:0007553 semapv:UnspecifiedMatching +OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate skos:exactMatch MONDO:0007554 semapv:UnspecifiedMatching +OMIM:131950 epidermolysis bullosa simplex 5a, ogna iia skos:exactMatch MONDO:0007555 semapv:UnspecifiedMatching +OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation skos:exactMatch MONDO:0007556 semapv:UnspecifiedMatching +OMIM:132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch MONDO:0007557 semapv:UnspecifiedMatching +OMIM:132090 epilepsy, benign occipital skos:exactMatch MONDO:0007558 semapv:UnspecifiedMatching +OMIM:132100 photoparoxysmal response 1 skos:exactMatch MONDO:0007559 semapv:UnspecifiedMatching +OMIM:132300 epilepsy, reading skos:exactMatch MONDO:0007560 semapv:UnspecifiedMatching +OMIM:132350 STX2 skos:exactMatch hgnc.symbol:3403 semapv:UnspecifiedMatching +OMIM:132350 STX2 skos:exactMatch hgnc.symbol:STX2 semapv:UnspecifiedMatching +OMIM:132350 STX2 skos:exactMatch ncbigene:2054 semapv:UnspecifiedMatching +OMIM:132400 epiphyseal dysplasia, multiple, 1 skos:exactMatch MONDO:0007561 semapv:UnspecifiedMatching +OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch MONDO:0007562 semapv:UnspecifiedMatching +OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch Orphanet:166011 semapv:UnspecifiedMatching +OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching +OMIM:132600 pilomatrixoma skos:exactMatch MONDO:0007564 semapv:UnspecifiedMatching +OMIM:132600 pilomatrixoma skos:exactMatch Orphanet:91414 semapv:UnspecifiedMatching +OMIM:132600 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching +OMIM:132700 cylindromatosis, familial skos:exactMatch MONDO:0007565 semapv:UnspecifiedMatching +OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to skos:exactMatch MONDO:0007566 semapv:UnspecifiedMatching +OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:3401 semapv:UnspecifiedMatching +OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:EPHX1 semapv:UnspecifiedMatching +OMIM:132810 EPHX1 skos:exactMatch ncbigene:2052 semapv:UnspecifiedMatching +OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:3402 semapv:UnspecifiedMatching +OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:EPHX2 semapv:UnspecifiedMatching +OMIM:132811 EPHX2 skos:exactMatch ncbigene:2053 semapv:UnspecifiedMatching +OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch MONDO:0007567 semapv:UnspecifiedMatching +OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:3143 semapv:UnspecifiedMatching +OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:EBVS1 semapv:UnspecifiedMatching +OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:7977 semapv:UnspecifiedMatching +OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:NR2F6 semapv:UnspecifiedMatching +OMIM:132880 NR2F6 skos:exactMatch ncbigene:2063 semapv:UnspecifiedMatching +OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:7975 semapv:UnspecifiedMatching +OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:NR2F1 semapv:UnspecifiedMatching +OMIM:132890 NR2F1 skos:exactMatch ncbigene:7025 semapv:UnspecifiedMatching +OMIM:132900 aortic aneurysm, familial thoracic 4 skos:exactMatch MONDO:0007568 semapv:UnspecifiedMatching +OMIM:132990 erythema nodosum, familial skos:exactMatch MONDO:0007569 semapv:UnspecifiedMatching +OMIM:133000 erythema palmare hereditarium skos:exactMatch MONDO:0007570 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch MONDO:0007571 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching +OMIM:133090 STOM skos:exactMatch hgnc.symbol:3383 semapv:UnspecifiedMatching +OMIM:133090 STOM skos:exactMatch hgnc.symbol:STOM semapv:UnspecifiedMatching +OMIM:133090 STOM skos:exactMatch ncbigene:2040 semapv:UnspecifiedMatching +OMIM:133100 erythrocytosis, familial, 1 skos:exactMatch MONDO:0007572 semapv:UnspecifiedMatching +OMIM:133170 EPO skos:exactMatch hgnc.symbol:3415 semapv:UnspecifiedMatching +OMIM:133170 EPO skos:exactMatch hgnc.symbol:EPO semapv:UnspecifiedMatching +OMIM:133170 EPO skos:exactMatch ncbigene:2056 semapv:UnspecifiedMatching +OMIM:133171 EPOR skos:exactMatch hgnc.symbol:3416 semapv:UnspecifiedMatching +OMIM:133171 EPOR skos:exactMatch hgnc.symbol:EPOR semapv:UnspecifiedMatching +OMIM:133171 EPOR skos:exactMatch ncbigene:2057 semapv:UnspecifiedMatching +OMIM:133180 erythroleukemia, familial, susceptibility to skos:exactMatch MONDO:0007573 semapv:UnspecifiedMatching +OMIM:133190 spinocerebellar ataxia 34 skos:exactMatch MONDO:0007574 semapv:UnspecifiedMatching +OMIM:133200 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch MONDO:0033010 semapv:UnspecifiedMatching +OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:3462 semapv:UnspecifiedMatching +OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:ESA4 semapv:UnspecifiedMatching +OMIM:133220 ESA4 skos:exactMatch ncbigene:2090 semapv:UnspecifiedMatching +OMIM:133239 esophageal cancer skos:exactMatch MONDO:0007576 semapv:UnspecifiedMatching +OMIM:133240 esophageal ring, lower skos:exactMatch MONDO:0007577 semapv:UnspecifiedMatching +OMIM:133260 esterase B skos:exactMatch MONDO:0007578 semapv:UnspecifiedMatching +OMIM:133270 esterase c skos:exactMatch MONDO:0007579 semapv:UnspecifiedMatching +OMIM:133280 ESD skos:exactMatch hgnc.symbol:3465 semapv:UnspecifiedMatching +OMIM:133280 ESD skos:exactMatch hgnc.symbol:ESD semapv:UnspecifiedMatching +OMIM:133280 ESD skos:exactMatch ncbigene:2098 semapv:UnspecifiedMatching +OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:3464 semapv:UnspecifiedMatching +OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:ESB3 semapv:UnspecifiedMatching +OMIM:133290 ESB3 skos:exactMatch ncbigene:2097 semapv:UnspecifiedMatching +OMIM:133300 esterase es-2, regulator for skos:exactMatch MONDO:0007580 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch UMLS:C1414461 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch UMLS:C3809250 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch UMLS:C4016037 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch UMLS:C4016038 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:3467 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:ESR1 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch ncbigene:2099 semapv:UnspecifiedMatching +OMIM:133435 RUNX1T1 skos:exactMatch hgnc.symbol:1535 semapv:UnspecifiedMatching +OMIM:133435 RUNX1T1 skos:exactMatch hgnc.symbol:RUNX1T1 semapv:UnspecifiedMatching +OMIM:133435 RUNX1T1 skos:exactMatch ncbigene:862 semapv:UnspecifiedMatching +OMIM:133440 EIF4E skos:exactMatch hgnc.symbol:3287 semapv:UnspecifiedMatching +OMIM:133440 EIF4E skos:exactMatch hgnc.symbol:EIF4E semapv:UnspecifiedMatching +OMIM:133440 EIF4E skos:exactMatch ncbigene:1977 semapv:UnspecifiedMatching +OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:3508 semapv:UnspecifiedMatching +OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:EWSR1 semapv:UnspecifiedMatching +OMIM:133450 EWSR1 skos:exactMatch ncbigene:2130 semapv:UnspecifiedMatching +OMIM:133500 exchondrosis of pinna, posterior skos:exactMatch MONDO:0007581 semapv:UnspecifiedMatching +OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:3435 semapv:UnspecifiedMatching +OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:ERCC3 semapv:UnspecifiedMatching +OMIM:133510 ERCC3 skos:exactMatch ncbigene:2071 semapv:UnspecifiedMatching +OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:3436 semapv:UnspecifiedMatching +OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:ERCC4 semapv:UnspecifiedMatching +OMIM:133520 ERCC4 skos:exactMatch ncbigene:2072 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch UMLS:C1333359 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch UMLS:C1851443 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch UMLS:C4016040 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:3437 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:ERCC5 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch ncbigene:2073 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch MONDO:0019570 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90322 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90324 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching +OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:10939 semapv:UnspecifiedMatching +OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:SLC1A1 semapv:UnspecifiedMatching +OMIM:133550 SLC1A1 skos:exactMatch ncbigene:6505 semapv:UnspecifiedMatching +OMIM:133600 exostoses of heel skos:exactMatch MONDO:0007583 semapv:UnspecifiedMatching +OMIM:133690 exostoses with anetodermia and brachydactyly, iia e skos:exactMatch MONDO:0007584 semapv:UnspecifiedMatching +OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch MONDO:0007585 semapv:UnspecifiedMatching +OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching +OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching +OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch MONDO:0007586 semapv:UnspecifiedMatching +OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching +OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching +OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus skos:exactMatch MONDO:0007587 semapv:UnspecifiedMatching +OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly skos:exactMatch MONDO:0007588 semapv:UnspecifiedMatching +OMIM:133780 exudative vitreoretinopathy 1 skos:exactMatch MONDO:0007589 semapv:UnspecifiedMatching +OMIM:133800 eyebrow, whorl 1n skos:exactMatch MONDO:0044231 semapv:UnspecifiedMatching +OMIM:133900 hemifacial hyperplasia skos:exactMatch MONDO:0007590 semapv:UnspecifiedMatching +OMIM:134000 facial hypertrichosis skos:exactMatch MONDO:0007591 semapv:UnspecifiedMatching +OMIM:134200 facial palsy, familial recurrent peripheral skos:exactMatch MONDO:0007592 semapv:UnspecifiedMatching +OMIM:134300 facial spasm skos:exactMatch MONDO:0007593 semapv:UnspecifiedMatching +OMIM:134350 CFD skos:exactMatch hgnc.symbol:2771 semapv:UnspecifiedMatching +OMIM:134350 CFD skos:exactMatch hgnc.symbol:CFD semapv:UnspecifiedMatching +OMIM:134350 CFD skos:exactMatch ncbigene:1675 semapv:UnspecifiedMatching +OMIM:134370 CFH skos:exactMatch hgnc.symbol:4883 semapv:UnspecifiedMatching +OMIM:134370 CFH skos:exactMatch hgnc.symbol:CFH semapv:UnspecifiedMatching +OMIM:134370 CFH skos:exactMatch ncbigene:3075 semapv:UnspecifiedMatching +OMIM:134371 CFHR1 skos:exactMatch hgnc.symbol:4888 semapv:UnspecifiedMatching +OMIM:134371 CFHR1 skos:exactMatch hgnc.symbol:CFHR1 semapv:UnspecifiedMatching +OMIM:134371 CFHR1 skos:exactMatch ncbigene:3078 semapv:UnspecifiedMatching +OMIM:134390 F3 skos:exactMatch UMLS:C1333522 semapv:UnspecifiedMatching +OMIM:134390 F3 skos:exactMatch hgnc.symbol:3541 semapv:UnspecifiedMatching +OMIM:134390 F3 skos:exactMatch hgnc.symbol:F3 semapv:UnspecifiedMatching +OMIM:134390 F3 skos:exactMatch ncbigene:2152 semapv:UnspecifiedMatching +OMIM:134400 factor 5 excess with spontaneous thrombosis skos:exactMatch MONDO:0007594 semapv:UnspecifiedMatching +OMIM:134430 factor 7 and factor viii, combined deficiency of skos:exactMatch MONDO:0007595 semapv:UnspecifiedMatching +OMIM:134500 factor 8 deficiency skos:exactMatch MONDO:0010602 semapv:UnspecifiedMatching +OMIM:134510 factor 8 and factor ix, combined deficiency of skos:exactMatch MONDO:0007597 semapv:UnspecifiedMatching +OMIM:134520 factors viii, 9 and xi, combined deficiency of skos:exactMatch MONDO:0007598 semapv:UnspecifiedMatching +OMIM:134540 factor 9 and factor xi, combined deficiency of skos:exactMatch MONDO:0007599 semapv:UnspecifiedMatching +OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:3531 semapv:UnspecifiedMatching +OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:F13A1 semapv:UnspecifiedMatching +OMIM:134570 F13A1 skos:exactMatch ncbigene:2162 semapv:UnspecifiedMatching +OMIM:134580 F13B skos:exactMatch hgnc.symbol:3534 semapv:UnspecifiedMatching +OMIM:134580 F13B skos:exactMatch hgnc.symbol:F13B semapv:UnspecifiedMatching +OMIM:134580 F13B skos:exactMatch ncbigene:2165 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch MONDO:0024525 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C0341703 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching +OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch MONDO:0007601 semapv:UnspecifiedMatching +OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching +OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching +OMIM:134629 FDPS skos:exactMatch hgnc.symbol:3631 semapv:UnspecifiedMatching +OMIM:134629 FDPS skos:exactMatch hgnc.symbol:FDPS semapv:UnspecifiedMatching +OMIM:134629 FDPS skos:exactMatch ncbigene:2224 semapv:UnspecifiedMatching +OMIM:134635 FNTA skos:exactMatch hgnc.symbol:3782 semapv:UnspecifiedMatching +OMIM:134635 FNTA skos:exactMatch hgnc.symbol:FNTA semapv:UnspecifiedMatching +OMIM:134635 FNTA skos:exactMatch ncbigene:2339 semapv:UnspecifiedMatching +OMIM:134636 FNTB skos:exactMatch hgnc.symbol:3785 semapv:UnspecifiedMatching +OMIM:134636 FNTB skos:exactMatch hgnc.symbol:FNTB semapv:UnspecifiedMatching +OMIM:134636 FNTB skos:exactMatch ncbigene:2342 semapv:UnspecifiedMatching +OMIM:134637 FAS skos:exactMatch hgnc.symbol:11920 semapv:UnspecifiedMatching +OMIM:134637 FAS skos:exactMatch hgnc.symbol:FAS semapv:UnspecifiedMatching +OMIM:134637 FAS skos:exactMatch ncbigene:355 semapv:UnspecifiedMatching +OMIM:134638 FASLG skos:exactMatch hgnc.symbol:11936 semapv:UnspecifiedMatching +OMIM:134638 FASLG skos:exactMatch hgnc.symbol:FASLG semapv:UnspecifiedMatching +OMIM:134638 FASLG skos:exactMatch ncbigene:356 semapv:UnspecifiedMatching +OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:3556 semapv:UnspecifiedMatching +OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:FABP2 semapv:UnspecifiedMatching +OMIM:134640 FABP2 skos:exactMatch ncbigene:2169 semapv:UnspecifiedMatching +OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:3555 semapv:UnspecifiedMatching +OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:FABP1 semapv:UnspecifiedMatching +OMIM:134650 FABP1 skos:exactMatch ncbigene:2168 semapv:UnspecifiedMatching +OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:3557 semapv:UnspecifiedMatching +OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:FABP3 semapv:UnspecifiedMatching +OMIM:134651 FABP3 skos:exactMatch ncbigene:2170 semapv:UnspecifiedMatching +OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:4638 semapv:UnspecifiedMatching +OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:GSTP1 semapv:UnspecifiedMatching +OMIM:134660 GSTP1 skos:exactMatch ncbigene:2950 semapv:UnspecifiedMatching +OMIM:134690 FAU skos:exactMatch hgnc.symbol:3597 semapv:UnspecifiedMatching +OMIM:134690 FAU skos:exactMatch hgnc.symbol:FAU semapv:UnspecifiedMatching +OMIM:134690 FAU skos:exactMatch ncbigene:2197 semapv:UnspecifiedMatching +OMIM:134700 skos:exactMatch MONDO:0007602 semapv:UnspecifiedMatching +OMIM:134750 felty syndrome skos:exactMatch MONDO:0007603 semapv:UnspecifiedMatching +OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:3976 semapv:UnspecifiedMatching +OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:FTH1 semapv:UnspecifiedMatching +OMIM:134770 FTH1 skos:exactMatch ncbigene:2495 semapv:UnspecifiedMatching +OMIM:134780 femoral-facial syndrome skos:exactMatch MONDO:0007604 semapv:UnspecifiedMatching +OMIM:134790 FTL skos:exactMatch hgnc.symbol:3999 semapv:UnspecifiedMatching +OMIM:134790 FTL skos:exactMatch hgnc.symbol:FTL semapv:UnspecifiedMatching +OMIM:134790 FTL skos:exactMatch ncbigene:2512 semapv:UnspecifiedMatching +OMIM:134795 FBL skos:exactMatch hgnc.symbol:3599 semapv:UnspecifiedMatching +OMIM:134795 FBL skos:exactMatch hgnc.symbol:FBL semapv:UnspecifiedMatching +OMIM:134795 FBL skos:exactMatch ncbigene:2091 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C0265287 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C1414542 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C1858556 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C1861456 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C1869115 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C3280054 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C3541518 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016052 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016053 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016054 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016055 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016056 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016057 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016059 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4016060 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch UMLS:C4310796 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:3603 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:FBN1 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch ncbigene:2200 semapv:UnspecifiedMatching +OMIM:134820 FGA skos:exactMatch hgnc.symbol:3661 semapv:UnspecifiedMatching +OMIM:134820 FGA skos:exactMatch hgnc.symbol:FGA semapv:UnspecifiedMatching +OMIM:134820 FGA skos:exactMatch ncbigene:2243 semapv:UnspecifiedMatching +OMIM:134830 FGB skos:exactMatch hgnc.symbol:3662 semapv:UnspecifiedMatching +OMIM:134830 FGB skos:exactMatch hgnc.symbol:FGB semapv:UnspecifiedMatching +OMIM:134830 FGB skos:exactMatch ncbigene:2244 semapv:UnspecifiedMatching +OMIM:134850 FGG skos:exactMatch hgnc.symbol:3694 semapv:UnspecifiedMatching +OMIM:134850 FGG skos:exactMatch hgnc.symbol:FGG semapv:UnspecifiedMatching +OMIM:134850 FGG skos:exactMatch ncbigene:2266 semapv:UnspecifiedMatching +OMIM:134900 fibrinolytic defect skos:exactMatch MONDO:0007605 semapv:UnspecifiedMatching +OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:3676 semapv:UnspecifiedMatching +OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:FGF2 semapv:UnspecifiedMatching +OMIM:134920 FGF2 skos:exactMatch ncbigene:2247 semapv:UnspecifiedMatching +OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:3684 semapv:UnspecifiedMatching +OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:FGF6 semapv:UnspecifiedMatching +OMIM:134921 FGF6 skos:exactMatch ncbigene:2251 semapv:UnspecifiedMatching +OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:3690 semapv:UnspecifiedMatching +OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:FGFR3 semapv:UnspecifiedMatching +OMIM:134934 FGFR3 skos:exactMatch ncbigene:2261 semapv:UnspecifiedMatching +OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:3691 semapv:UnspecifiedMatching +OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:FGFR4 semapv:UnspecifiedMatching +OMIM:134935 FGFR4 skos:exactMatch ncbigene:2264 semapv:UnspecifiedMatching +OMIM:135100 fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 semapv:UnspecifiedMatching +OMIM:135150 birt-hogg-dube syndrome 1 skos:exactMatch MONDO:0800445 semapv:UnspecifiedMatching +OMIM:135290 desmoid disease, hereditary skos:exactMatch MONDO:0007608 semapv:UnspecifiedMatching +OMIM:135290 desmoid disease, hereditary skos:exactMatch Orphanet:873 semapv:UnspecifiedMatching +OMIM:135290 desmoid disease, hereditary skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching +OMIM:135300 fibromatosis, gingival, 1 skos:exactMatch MONDO:0007609 semapv:UnspecifiedMatching +OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia skos:exactMatch MONDO:0007610 semapv:UnspecifiedMatching +OMIM:135500 zimmermann-laband syndrome 1 skos:exactMatch MONDO:0024526 semapv:UnspecifiedMatching +OMIM:135550 fibromatosis, gingival, with progressive deafness skos:exactMatch MONDO:0007612 semapv:UnspecifiedMatching +OMIM:135580 fibromuscular dysplasia, arterial skos:exactMatch MONDO:0006761 semapv:UnspecifiedMatching +OMIM:135600 FN1 skos:exactMatch hgnc.symbol:3778 semapv:UnspecifiedMatching +OMIM:135600 FN1 skos:exactMatch hgnc.symbol:FN1 semapv:UnspecifiedMatching +OMIM:135600 FN1 skos:exactMatch ncbigene:2335 semapv:UnspecifiedMatching +OMIM:135620 ITGA5 skos:exactMatch hgnc.symbol:6141 semapv:UnspecifiedMatching +OMIM:135620 ITGA5 skos:exactMatch hgnc.symbol:ITGA5 semapv:UnspecifiedMatching +OMIM:135620 ITGA5 skos:exactMatch ncbigene:3678 semapv:UnspecifiedMatching +OMIM:135630 ITGB1 skos:exactMatch hgnc.symbol:6153 semapv:UnspecifiedMatching +OMIM:135630 ITGB1 skos:exactMatch hgnc.symbol:ITGB1 semapv:UnspecifiedMatching +OMIM:135630 ITGB1 skos:exactMatch ncbigene:3688 semapv:UnspecifiedMatching +OMIM:135700 fibrosis of extraocular muscles, congenital, 1 skos:exactMatch MONDO:0021083 semapv:UnspecifiedMatching +OMIM:135750 laurin-sandrow syndrome skos:exactMatch MONDO:0007615 semapv:UnspecifiedMatching +OMIM:135750 laurin-sandrow syndrome skos:exactMatch Orphanet:2378 semapv:UnspecifiedMatching +OMIM:135750 laurin-sandrow syndrome skos:exactMatch UMLS:C1851100 semapv:UnspecifiedMatching +OMIM:135800 fibula, recurrent dislocation of head of skos:exactMatch MONDO:0007616 semapv:UnspecifiedMatching +OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:3600 semapv:UnspecifiedMatching +OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:FBLN1 semapv:UnspecifiedMatching +OMIM:135820 FBLN1 skos:exactMatch ncbigene:2192 semapv:UnspecifiedMatching +OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:3601 semapv:UnspecifiedMatching +OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:FBLN2 semapv:UnspecifiedMatching +OMIM:135821 FBLN2 skos:exactMatch ncbigene:2199 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch MONDO:0007617 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C0265338 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching +OMIM:135940 FLG skos:exactMatch hgnc.symbol:3748 semapv:UnspecifiedMatching +OMIM:135940 FLG skos:exactMatch hgnc.symbol:FLG semapv:UnspecifiedMatching +OMIM:135940 FLG skos:exactMatch ncbigene:2312 semapv:UnspecifiedMatching +OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature skos:exactMatch MONDO:0007618 semapv:UnspecifiedMatching +OMIM:136000 adermatoglyphia skos:exactMatch MONDO:0007619 semapv:UnspecifiedMatching +OMIM:136100 fingers, relative length of skos:exactMatch MONDO:0044232 semapv:UnspecifiedMatching +OMIM:136120 fish-eye disease skos:exactMatch MONDO:0007620 semapv:UnspecifiedMatching +OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:3769 semapv:UnspecifiedMatching +OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:FMO1 semapv:UnspecifiedMatching +OMIM:136130 FMO1 skos:exactMatch ncbigene:2326 semapv:UnspecifiedMatching +OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:3772 semapv:UnspecifiedMatching +OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:FMO4 semapv:UnspecifiedMatching +OMIM:136131 FMO4 skos:exactMatch ncbigene:2329 semapv:UnspecifiedMatching +OMIM:136132 FMO3 skos:exactMatch hgnc.symbol:3771 semapv:UnspecifiedMatching +OMIM:136132 FMO3 skos:exactMatch hgnc.symbol:FMO3 semapv:UnspecifiedMatching +OMIM:136132 FMO3 skos:exactMatch ncbigene:2328 semapv:UnspecifiedMatching +OMIM:136140 floating-harbor syndrome skos:exactMatch MONDO:0007621 semapv:UnspecifiedMatching +OMIM:136150 flood factor deficiency skos:exactMatch MONDO:0007622 semapv:UnspecifiedMatching +OMIM:136200 flushing of ears and somnolence skos:exactMatch MONDO:0007623 semapv:UnspecifiedMatching +OMIM:136300 flynn-aird syndrome skos:exactMatch MONDO:0007624 semapv:UnspecifiedMatching +OMIM:136350 FGFR1 skos:exactMatch hgnc.symbol:3688 semapv:UnspecifiedMatching +OMIM:136350 FGFR1 skos:exactMatch hgnc.symbol:FGFR1 semapv:UnspecifiedMatching +OMIM:136350 FGFR1 skos:exactMatch ncbigene:2260 semapv:UnspecifiedMatching +OMIM:136351 FLT3 skos:exactMatch hgnc.symbol:3765 semapv:UnspecifiedMatching +OMIM:136351 FLT3 skos:exactMatch hgnc.symbol:FLT3 semapv:UnspecifiedMatching +OMIM:136351 FLT3 skos:exactMatch ncbigene:2322 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch UMLS:C1333569 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch UMLS:C4016109 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:3767 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:FLT4 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch ncbigene:2324 semapv:UnspecifiedMatching +OMIM:136400 focal epithelial hyperplasia of the oral mucosa skos:exactMatch MONDO:0007625 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch UMLS:C1414664 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:3793 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:FOLR2 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch ncbigene:2350 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch UMLS:C1414662 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:3791 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:FOLR1 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch ncbigene:2348 semapv:UnspecifiedMatching +OMIM:136435 FSHR skos:exactMatch hgnc.symbol:3969 semapv:UnspecifiedMatching +OMIM:136435 FSHR skos:exactMatch hgnc.symbol:FSHR semapv:UnspecifiedMatching +OMIM:136435 FSHR skos:exactMatch ncbigene:2492 semapv:UnspecifiedMatching +OMIM:136440 KDSR skos:exactMatch hgnc.symbol:4021 semapv:UnspecifiedMatching +OMIM:136440 KDSR skos:exactMatch hgnc.symbol:KDSR semapv:UnspecifiedMatching +OMIM:136440 KDSR skos:exactMatch ncbigene:2531 semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch UMLS:C1414830 semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch hgnc.symbol:3971 semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch hgnc.symbol:FST semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch ncbigene:10468 semapv:UnspecifiedMatching +OMIM:136480 fourth cranial nerve palsy, familial congenital skos:exactMatch MONDO:0007626 semapv:UnspecifiedMatching +OMIM:136500 focal facial dermal dysplasia 1, brauer iia skos:exactMatch MONDO:0007627 semapv:UnspecifiedMatching +OMIM:136510 FPGS skos:exactMatch hgnc.symbol:3824 semapv:UnspecifiedMatching +OMIM:136510 FPGS skos:exactMatch hgnc.symbol:FPGS semapv:UnspecifiedMatching +OMIM:136510 FPGS skos:exactMatch ncbigene:2356 semapv:UnspecifiedMatching +OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:13718 semapv:UnspecifiedMatching +OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:FOSL1 semapv:UnspecifiedMatching +OMIM:136515 FOSL1 skos:exactMatch ncbigene:8061 semapv:UnspecifiedMatching +OMIM:136520 foveal hypoplasia 1 skos:exactMatch MONDO:0007628 semapv:UnspecifiedMatching +OMIM:136530 FSHB skos:exactMatch hgnc.symbol:3964 semapv:UnspecifiedMatching +OMIM:136530 FSHB skos:exactMatch hgnc.symbol:FSHB semapv:UnspecifiedMatching +OMIM:136530 FSHB skos:exactMatch ncbigene:2488 semapv:UnspecifiedMatching +OMIM:136533 FOXO1A skos:exactMatch hgnc.symbol:3819 semapv:UnspecifiedMatching +OMIM:136533 FOXO1A skos:exactMatch hgnc.symbol:FOXO1 semapv:UnspecifiedMatching +OMIM:136533 FOXO1A skos:exactMatch ncbigene:2308 semapv:UnspecifiedMatching +OMIM:136535 FMN1 skos:exactMatch hgnc.symbol:3768 semapv:UnspecifiedMatching +OMIM:136535 FMN1 skos:exactMatch hgnc.symbol:FMN1 semapv:UnspecifiedMatching +OMIM:136535 FMN1 skos:exactMatch ncbigene:342184 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch UMLS:C1333574 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch UMLS:C5394557 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:3826 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:FPR1 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch ncbigene:2357 semapv:UnspecifiedMatching +OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:3827 semapv:UnspecifiedMatching +OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:FPR2 semapv:UnspecifiedMatching +OMIM:136538 FPR2 skos:exactMatch ncbigene:2358 semapv:UnspecifiedMatching +OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:3828 semapv:UnspecifiedMatching +OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:FPR3 semapv:UnspecifiedMatching +OMIM:136539 FPR3 skos:exactMatch ncbigene:2359 semapv:UnspecifiedMatching +OMIM:136540 fragile site 10q23 skos:exactMatch MONDO:0007629 semapv:UnspecifiedMatching +OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch MONDO:0007630 semapv:UnspecifiedMatching +OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch Orphanet:75327 semapv:UnspecifiedMatching +OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching +OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb skos:exactMatch MONDO:0007631 semapv:UnspecifiedMatching +OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) skos:exactMatch MONDO:0007632 semapv:UnspecifiedMatching +OMIM:136600 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch MONDO:0007633 semapv:UnspecifiedMatching +OMIM:136630 intellectual developmental disorder, fra12a iia skos:exactMatch MONDO:0007634 semapv:UnspecifiedMatching +OMIM:136680 frasier syndrome skos:exactMatch MONDO:0007635 semapv:UnspecifiedMatching +OMIM:136760 frontonasal dysplasia 1 skos:exactMatch MONDO:0007636 semapv:UnspecifiedMatching +OMIM:136760 frontonasal dysplasia 1 skos:exactMatch Orphanet:391474 semapv:UnspecifiedMatching +OMIM:136760 frontonasal dysplasia 1 skos:exactMatch UMLS:C1876203 semapv:UnspecifiedMatching +OMIM:136800 corneal dystrophy, fuchs endothelial, 1 skos:exactMatch MONDO:0007637 semapv:UnspecifiedMatching +OMIM:136820 FUCA2 skos:exactMatch hgnc.symbol:4008 semapv:UnspecifiedMatching +OMIM:136820 FUCA2 skos:exactMatch hgnc.symbol:FUCA2 semapv:UnspecifiedMatching +OMIM:136820 FUCA2 skos:exactMatch ncbigene:2519 semapv:UnspecifiedMatching +OMIM:136830 fucosidase regulator skos:exactMatch MONDO:0007638 semapv:UnspecifiedMatching +OMIM:136835 FUT5 skos:exactMatch hgnc.symbol:4016 semapv:UnspecifiedMatching +OMIM:136835 FUT5 skos:exactMatch hgnc.symbol:FUT5 semapv:UnspecifiedMatching +OMIM:136835 FUT5 skos:exactMatch ncbigene:2527 semapv:UnspecifiedMatching +OMIM:136836 FUT6 skos:exactMatch hgnc.symbol:4017 semapv:UnspecifiedMatching +OMIM:136836 FUT6 skos:exactMatch hgnc.symbol:FUT6 semapv:UnspecifiedMatching +OMIM:136836 FUT6 skos:exactMatch ncbigene:2528 semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch UMLS:C1366530 semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch hgnc.symbol:3700 semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch hgnc.symbol:FH semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch ncbigene:2271 semapv:UnspecifiedMatching +OMIM:136880 fundus albipunctatus skos:exactMatch MONDO:0007639 semapv:UnspecifiedMatching +OMIM:136900 sorsby fundus dystrophy skos:exactMatch MONDO:0007640 semapv:UnspecifiedMatching +OMIM:136950 FURIN skos:exactMatch hgnc.symbol:8568 semapv:UnspecifiedMatching +OMIM:136950 FURIN skos:exactMatch hgnc.symbol:FURIN semapv:UnspecifiedMatching +OMIM:136950 FURIN skos:exactMatch ncbigene:5045 semapv:UnspecifiedMatching +OMIM:137000 futcher line skos:exactMatch MONDO:0007641 semapv:UnspecifiedMatching +OMIM:137010 FEA skos:exactMatch ncbigene:7959 semapv:UnspecifiedMatching +OMIM:137020 GFUS skos:exactMatch hgnc.symbol:12390 semapv:UnspecifiedMatching +OMIM:137020 GFUS skos:exactMatch hgnc.symbol:GFUS semapv:UnspecifiedMatching +OMIM:137020 GFUS skos:exactMatch ncbigene:7264 semapv:UnspecifiedMatching +OMIM:137025 FYN skos:exactMatch hgnc.symbol:4037 semapv:UnspecifiedMatching +OMIM:137025 FYN skos:exactMatch hgnc.symbol:FYN semapv:UnspecifiedMatching +OMIM:137025 FYN skos:exactMatch ncbigene:2534 semapv:UnspecifiedMatching +OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:4543 semapv:UnspecifiedMatching +OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:GRK4 semapv:UnspecifiedMatching +OMIM:137026 GRK4 skos:exactMatch ncbigene:2868 semapv:UnspecifiedMatching +OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:4119 semapv:UnspecifiedMatching +OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:GALK2 semapv:UnspecifiedMatching +OMIM:137028 GALK2 skos:exactMatch ncbigene:2585 semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch UMLS:C1428343 semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch hgnc.symbol:24063 semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch hgnc.symbol:GALM semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch ncbigene:130589 semapv:UnspecifiedMatching +OMIM:137035 GAL skos:exactMatch hgnc.symbol:4114 semapv:UnspecifiedMatching +OMIM:137035 GAL skos:exactMatch hgnc.symbol:GAL semapv:UnspecifiedMatching +OMIM:137035 GAL skos:exactMatch ncbigene:51083 semapv:UnspecifiedMatching +OMIM:137040 gallbladder, agenesis of skos:exactMatch MONDO:0007642 semapv:UnspecifiedMatching +OMIM:137050 gamma-a-globulin, defect 1n assembly of skos:exactMatch MONDO:0007643 semapv:UnspecifiedMatching +OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:924 semapv:UnspecifiedMatching +OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:B4GALT1 semapv:UnspecifiedMatching +OMIM:137060 B4GALT1 skos:exactMatch ncbigene:2683 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C1414860 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C1842675 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C2750729 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C3539195 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch UMLS:C4016110 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch hgnc.symbol:4010 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch hgnc.symbol:FUS semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch ncbigene:2521 semapv:UnspecifiedMatching +OMIM:137100 immunoglobulin a deficiency 1 skos:exactMatch MONDO:0007644 semapv:UnspecifiedMatching +OMIM:137130 gastric sneezing skos:exactMatch MONDO:0007645 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch UMLS:C1414909 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch UMLS:C4016111 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:4076 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:GABRA2 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch ncbigene:2555 semapv:UnspecifiedMatching +OMIM:137141 GABRA4 skos:exactMatch UMLS:C1414911 semapv:UnspecifiedMatching +OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:4078 semapv:UnspecifiedMatching +OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:GABRA4 semapv:UnspecifiedMatching +OMIM:137141 GABRA4 skos:exactMatch ncbigene:2557 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch UMLS:C1414912 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:4079 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:GABRA5 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch ncbigene:2558 semapv:UnspecifiedMatching +OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:4080 semapv:UnspecifiedMatching +OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:GABRA6 semapv:UnspecifiedMatching +OMIM:137143 GABRA6 skos:exactMatch ncbigene:2559 semapv:UnspecifiedMatching +OMIM:137150 ABAT skos:exactMatch hgnc.symbol:23 semapv:UnspecifiedMatching +OMIM:137150 ABAT skos:exactMatch hgnc.symbol:ABAT semapv:UnspecifiedMatching +OMIM:137150 ABAT skos:exactMatch ncbigene:18 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C1414908 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C1970160 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C2749942 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch UMLS:C4013473 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:4075 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:GABRA1 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch ncbigene:2554 semapv:UnspecifiedMatching +OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:4090 semapv:UnspecifiedMatching +OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:GABRR1 semapv:UnspecifiedMatching +OMIM:137161 GABRR1 skos:exactMatch ncbigene:2569 semapv:UnspecifiedMatching +OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:4091 semapv:UnspecifiedMatching +OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:GABRR2 semapv:UnspecifiedMatching +OMIM:137162 GABRR2 skos:exactMatch ncbigene:2570 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch UMLS:C1414917 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch UMLS:C2751603 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch UMLS:C2751604 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch UMLS:C3150399 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch hgnc.symbol:4084 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch hgnc.symbol:GABRD semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch ncbigene:2563 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C1414920 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C1858674 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C1969810 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:4087 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:GABRG2 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch ncbigene:2566 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch UMLS:C1420206 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch UMLS:C4085238 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:11042 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:SLC6A1 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch ncbigene:6529 semapv:UnspecifiedMatching +OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:4086 semapv:UnspecifiedMatching +OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:GABRG1 semapv:UnspecifiedMatching +OMIM:137166 GABRG1 skos:exactMatch ncbigene:2565 semapv:UnspecifiedMatching +OMIM:137167 GGCX skos:exactMatch hgnc.symbol:4247 semapv:UnspecifiedMatching +OMIM:137167 GGCX skos:exactMatch hgnc.symbol:GGCX semapv:UnspecifiedMatching +OMIM:137167 GGCX skos:exactMatch ncbigene:2677 semapv:UnspecifiedMatching +OMIM:137168 GGT5 skos:exactMatch hgnc.symbol:4260 semapv:UnspecifiedMatching +OMIM:137168 GGT5 skos:exactMatch hgnc.symbol:GGT5 semapv:UnspecifiedMatching +OMIM:137168 GGT5 skos:exactMatch ncbigene:2687 semapv:UnspecifiedMatching +OMIM:137170 GGCT skos:exactMatch hgnc.symbol:21705 semapv:UnspecifiedMatching +OMIM:137170 GGCT skos:exactMatch hgnc.symbol:GGCT semapv:UnspecifiedMatching +OMIM:137170 GGCT skos:exactMatch ncbigene:79017 semapv:UnspecifiedMatching +OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:4251 semapv:UnspecifiedMatching +OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:GGT2P semapv:UnspecifiedMatching +OMIM:137181 GGT2 skos:exactMatch ncbigene:728441 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch UMLS:C1414914 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:4081 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:GABRB1 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch ncbigene:2560 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C1414916 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C2677087 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:4083 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:GABRB3 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch ncbigene:2562 semapv:UnspecifiedMatching +OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch MONDO:0007646 semapv:UnspecifiedMatching +OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch Orphanet:324442 semapv:UnspecifiedMatching +OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch UMLS:C0242287 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch UMLS:C1537607 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:4161 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:LRRC32 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch ncbigene:2615 semapv:UnspecifiedMatching +OMIM:137210 gastric volvulus, intrathoracic skos:exactMatch MONDO:0007647 semapv:UnspecifiedMatching +OMIM:137215 diffuse gastric and lobular breast cancer syndrome skos:exactMatch MONDO:0100488 semapv:UnspecifiedMatching +OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:819 semapv:UnspecifiedMatching +OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:ATP4A semapv:UnspecifiedMatching +OMIM:137216 ATP4A skos:exactMatch ncbigene:495 semapv:UnspecifiedMatching +OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:820 semapv:UnspecifiedMatching +OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:ATP4B semapv:UnspecifiedMatching +OMIM:137217 ATP4B skos:exactMatch ncbigene:496 semapv:UnspecifiedMatching +OMIM:137220 gastric juice peptides skos:exactMatch MONDO:0007649 semapv:UnspecifiedMatching +OMIM:137240 GIP skos:exactMatch hgnc.symbol:4270 semapv:UnspecifiedMatching +OMIM:137240 GIP skos:exactMatch hgnc.symbol:GIP semapv:UnspecifiedMatching +OMIM:137240 GIP skos:exactMatch ncbigene:2695 semapv:UnspecifiedMatching +OMIM:137241 GIPR skos:exactMatch UMLS:C1333675 semapv:UnspecifiedMatching +OMIM:137241 GIPR skos:exactMatch hgnc.symbol:4271 semapv:UnspecifiedMatching +OMIM:137241 GIPR skos:exactMatch hgnc.symbol:GIPR semapv:UnspecifiedMatching +OMIM:137241 GIPR skos:exactMatch ncbigene:2696 semapv:UnspecifiedMatching +OMIM:137245 lymphoma, mucosa-associated lymphoid iia skos:exactMatch MONDO:0007650 semapv:UnspecifiedMatching +OMIM:137250 GAST skos:exactMatch hgnc.symbol:4164 semapv:UnspecifiedMatching +OMIM:137250 GAST skos:exactMatch hgnc.symbol:GAST semapv:UnspecifiedMatching +OMIM:137250 GAST skos:exactMatch ncbigene:2520 semapv:UnspecifiedMatching +OMIM:137260 GRP skos:exactMatch hgnc.symbol:4605 semapv:UnspecifiedMatching +OMIM:137260 GRP skos:exactMatch hgnc.symbol:GRP semapv:UnspecifiedMatching +OMIM:137260 GRP skos:exactMatch ncbigene:2922 semapv:UnspecifiedMatching +OMIM:137270 gastrocutaneous syndrome skos:exactMatch MONDO:0007651 semapv:UnspecifiedMatching +OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch MONDO:0007652 semapv:UnspecifiedMatching +OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch Orphanet:2494 semapv:UnspecifiedMatching +OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C0017155 semapv:UnspecifiedMatching +OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C2936660 semapv:UnspecifiedMatching +OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:11530 semapv:UnspecifiedMatching +OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:TACSTD2 semapv:UnspecifiedMatching +OMIM:137290 TACSTD2 skos:exactMatch ncbigene:4070 semapv:UnspecifiedMatching +OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:4171 semapv:UnspecifiedMatching +OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:GATA2 semapv:UnspecifiedMatching +OMIM:137295 GATA2 skos:exactMatch ncbigene:2624 semapv:UnspecifiedMatching +OMIM:137350 GSN skos:exactMatch hgnc.symbol:4620 semapv:UnspecifiedMatching +OMIM:137350 GSN skos:exactMatch hgnc.symbol:GSN semapv:UnspecifiedMatching +OMIM:137350 GSN skos:exactMatch ncbigene:2934 semapv:UnspecifiedMatching +OMIM:137360 genochondromatosis skos:exactMatch MONDO:0007653 semapv:UnspecifiedMatching +OMIM:137370 genu valgum, st. helena familial skos:exactMatch MONDO:0007654 semapv:UnspecifiedMatching +OMIM:137400 geographic and fissured tongue skos:exactMatch MONDO:0007655 semapv:UnspecifiedMatching +OMIM:137440 gerstmann-straussler disease skos:exactMatch MONDO:0007656 semapv:UnspecifiedMatching +OMIM:137440 gerstmann-straussler disease skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching +OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching +OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C2931022 semapv:UnspecifiedMatching +OMIM:137500 giant neutrophil leukocytes skos:exactMatch MONDO:0007657 semapv:UnspecifiedMatching +OMIM:137550 melanocytic nevus syndrome, congenital skos:exactMatch MONDO:0044792 semapv:UnspecifiedMatching +OMIM:137560 skos:exactMatch MONDO:0007659 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch UMLS:C1456395 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:10946 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:SLC20A1 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch ncbigene:6574 semapv:UnspecifiedMatching +OMIM:137575 gigantiform cementoma, familial skos:exactMatch MONDO:0007660 semapv:UnspecifiedMatching +OMIM:137580 gilles lange 50a tourette syndrome skos:exactMatch MONDO:0007661 semapv:UnspecifiedMatching +OMIM:137600 anterior segment dysgenesis 4 skos:exactMatch MONDO:0007662 semapv:UnspecifiedMatching +OMIM:137700 glaucoma with elevated episcleral venous pressure skos:exactMatch MONDO:0007663 semapv:UnspecifiedMatching +OMIM:137750 glaucoma 1, open angle, a skos:exactMatch MONDO:0007664 semapv:UnspecifiedMatching +OMIM:137760 glaucoma, primary open angle skos:exactMatch MONDO:0007665 semapv:UnspecifiedMatching +OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C0339573 semapv:UnspecifiedMatching +OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C1842026 semapv:UnspecifiedMatching +OMIM:137763 glaucoma and sleep apnea skos:exactMatch MONDO:0007666 semapv:UnspecifiedMatching +OMIM:137780 GFAP skos:exactMatch hgnc.symbol:4235 semapv:UnspecifiedMatching +OMIM:137780 GFAP skos:exactMatch hgnc.symbol:GFAP semapv:UnspecifiedMatching +OMIM:137780 GFAP skos:exactMatch ncbigene:2670 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch MONDO:0024498 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:182067 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251630 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:301 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:360 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:94 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1621958 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1842010 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching +OMIM:137900 globulin anomaly involving beta (2a)-globulin skos:exactMatch MONDO:0007668 semapv:UnspecifiedMatching +OMIM:137920 renal cysts and diabetes syndrome skos:exactMatch MONDO:0007669 semapv:UnspecifiedMatching +OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch MONDO:0019073 semapv:UnspecifiedMatching +OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 semapv:UnspecifiedMatching +OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C1841989 semapv:UnspecifiedMatching +OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching +OMIM:137950 glomerulopathy with fibronectin deposits 1 skos:exactMatch MONDO:0024527 semapv:UnspecifiedMatching +OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:7224 semapv:UnspecifiedMatching +OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:MPV17 semapv:UnspecifiedMatching +OMIM:137960 MPV17 skos:exactMatch ncbigene:4358 semapv:UnspecifiedMatching +OMIM:138000 glomuvenous malformations skos:exactMatch MONDO:0007672 semapv:UnspecifiedMatching +OMIM:138030 GCG skos:exactMatch UMLS:C1333664 semapv:UnspecifiedMatching +OMIM:138030 GCG skos:exactMatch hgnc.symbol:4191 semapv:UnspecifiedMatching +OMIM:138030 GCG skos:exactMatch hgnc.symbol:GCG semapv:UnspecifiedMatching +OMIM:138030 GCG skos:exactMatch ncbigene:2641 semapv:UnspecifiedMatching +OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:4324 semapv:UnspecifiedMatching +OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:GLP1R semapv:UnspecifiedMatching +OMIM:138032 GLP1R skos:exactMatch ncbigene:2740 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch UMLS:C1415011 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch UMLS:C5394558 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch hgnc.symbol:4192 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch hgnc.symbol:GCGR semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch ncbigene:2642 semapv:UnspecifiedMatching +OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:7978 semapv:UnspecifiedMatching +OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:NR3C1 semapv:UnspecifiedMatching +OMIM:138040 NR3C1 skos:exactMatch ncbigene:2908 semapv:UnspecifiedMatching +OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:4592 semapv:UnspecifiedMatching +OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:NR3C1P1 semapv:UnspecifiedMatching +OMIM:138070 glucoglycinuria skos:exactMatch MONDO:0007673 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C1415014 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C1865290 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch hgnc.symbol:4195 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch hgnc.symbol:GCK semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch ncbigene:2645 semapv:UnspecifiedMatching +OMIM:138090 H6PD skos:exactMatch hgnc.symbol:4795 semapv:UnspecifiedMatching +OMIM:138090 H6PD skos:exactMatch hgnc.symbol:H6PD semapv:UnspecifiedMatching +OMIM:138090 H6PD skos:exactMatch ncbigene:9563 semapv:UnspecifiedMatching +OMIM:138110 glucose-6-phosphate dehydrogenase-like skos:exactMatch MONDO:0007674 semapv:UnspecifiedMatching +OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:5238 semapv:UnspecifiedMatching +OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:HSPA5 semapv:UnspecifiedMatching +OMIM:138120 HSPA5 skos:exactMatch ncbigene:3309 semapv:UnspecifiedMatching +OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:4335 semapv:UnspecifiedMatching +OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:GLUD1 semapv:UnspecifiedMatching +OMIM:138130 GLUD1 skos:exactMatch ncbigene:2746 semapv:UnspecifiedMatching +OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:11005 semapv:UnspecifiedMatching +OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:SLC2A1 semapv:UnspecifiedMatching +OMIM:138140 SLC2A1 skos:exactMatch ncbigene:6513 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch UMLS:C1415182 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:4433 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:GOT2 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch ncbigene:2806 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch UMLS:C1420172 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3495427 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:11006 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:SLC2A2 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch ncbigene:6514 semapv:UnspecifiedMatching +OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:11007 semapv:UnspecifiedMatching +OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:SLC2A3 semapv:UnspecifiedMatching +OMIM:138170 SLC2A3 skos:exactMatch ncbigene:6515 semapv:UnspecifiedMatching +OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:4432 semapv:UnspecifiedMatching +OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:GOT1 semapv:UnspecifiedMatching +OMIM:138180 GOT1 skos:exactMatch ncbigene:2805 semapv:UnspecifiedMatching +OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:11009 semapv:UnspecifiedMatching +OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:SLC2A4 semapv:UnspecifiedMatching +OMIM:138190 SLC2A4 skos:exactMatch ncbigene:6517 semapv:UnspecifiedMatching +OMIM:138200 GPT skos:exactMatch hgnc.symbol:4552 semapv:UnspecifiedMatching +OMIM:138200 GPT skos:exactMatch hgnc.symbol:GPT semapv:UnspecifiedMatching +OMIM:138200 GPT skos:exactMatch ncbigene:2875 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch UMLS:C1512213 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:18062 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:GPT2 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch ncbigene:84706 semapv:UnspecifiedMatching +OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:11010 semapv:UnspecifiedMatching +OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:SLC2A5 semapv:UnspecifiedMatching +OMIM:138230 SLC2A5 skos:exactMatch ncbigene:6518 semapv:UnspecifiedMatching +OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:4581 semapv:UnspecifiedMatching +OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:GRIK3 semapv:UnspecifiedMatching +OMIM:138243 GRIK3 skos:exactMatch ncbigene:2899 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch UMLS:C1415294 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:4580 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:GRIK2 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch ncbigene:2898 semapv:UnspecifiedMatching +OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:4579 semapv:UnspecifiedMatching +OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:GRIK1 semapv:UnspecifiedMatching +OMIM:138245 GRIK1 skos:exactMatch ncbigene:2897 semapv:UnspecifiedMatching +OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:4574 semapv:UnspecifiedMatching +OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:GRIA4 semapv:UnspecifiedMatching +OMIM:138246 GRIA4 skos:exactMatch ncbigene:2893 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch UMLS:C1415288 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:4572 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:GRIA2 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch ncbigene:2891 semapv:UnspecifiedMatching +OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:4571 semapv:UnspecifiedMatching +OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:GRIA1 semapv:UnspecifiedMatching +OMIM:138248 GRIA1 skos:exactMatch ncbigene:2890 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C1415298 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693959 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693960 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693961 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693962 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693963 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693964 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693965 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:4584 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:GRIN1 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch ncbigene:2902 semapv:UnspecifiedMatching +OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:9722 semapv:UnspecifiedMatching +OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:ALDH18A1 semapv:UnspecifiedMatching +OMIM:138250 ALDH18A1 skos:exactMatch ncbigene:5832 semapv:UnspecifiedMatching +OMIM:138251 GRINA skos:exactMatch hgnc.symbol:4589 semapv:UnspecifiedMatching +OMIM:138251 GRINA skos:exactMatch hgnc.symbol:GRINA semapv:UnspecifiedMatching +OMIM:138251 GRINA skos:exactMatch ncbigene:2907 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch UMLS:C1415300 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch UMLS:C4540533 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:4586 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:GRIN2B semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch ncbigene:2904 semapv:UnspecifiedMatching +OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:4585 semapv:UnspecifiedMatching +OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:GRIN2A semapv:UnspecifiedMatching +OMIM:138253 GRIN2A skos:exactMatch ncbigene:2903 semapv:UnspecifiedMatching +OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:4587 semapv:UnspecifiedMatching +OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:GRIN2C semapv:UnspecifiedMatching +OMIM:138254 GRIN2C skos:exactMatch ncbigene:2905 semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch UMLS:C1414926 semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:4093 semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:GAD2 semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch ncbigene:2572 semapv:UnspecifiedMatching +OMIM:138277 glutamic acid decarboxylase, brain, membrane form skos:exactMatch MONDO:0007675 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C1415112 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch UMLS:C5193080 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch hgnc.symbol:4331 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch hgnc.symbol:GLS semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch ncbigene:2744 semapv:UnspecifiedMatching +OMIM:138290 GLUL skos:exactMatch hgnc.symbol:4341 semapv:UnspecifiedMatching +OMIM:138290 GLUL skos:exactMatch hgnc.symbol:GLUL semapv:UnspecifiedMatching +OMIM:138290 GLUL skos:exactMatch ncbigene:2752 semapv:UnspecifiedMatching +OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:4241 semapv:UnspecifiedMatching +OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:GFPT1 semapv:UnspecifiedMatching +OMIM:138292 GFPT1 skos:exactMatch ncbigene:2673 semapv:UnspecifiedMatching +OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:3418 semapv:UnspecifiedMatching +OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:EPRS1 semapv:UnspecifiedMatching +OMIM:138295 EPRS1 skos:exactMatch ncbigene:2058 semapv:UnspecifiedMatching +OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:3355 semapv:UnspecifiedMatching +OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:ENPEP semapv:UnspecifiedMatching +OMIM:138297 ENPEP skos:exactMatch ncbigene:2028 semapv:UnspecifiedMatching +OMIM:138300 GSR skos:exactMatch hgnc.symbol:4623 semapv:UnspecifiedMatching +OMIM:138300 GSR skos:exactMatch hgnc.symbol:GSR semapv:UnspecifiedMatching +OMIM:138300 GSR skos:exactMatch ncbigene:2936 semapv:UnspecifiedMatching +OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:4554 semapv:UnspecifiedMatching +OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:GPX2 semapv:UnspecifiedMatching +OMIM:138319 GPX2 skos:exactMatch ncbigene:2877 semapv:UnspecifiedMatching +OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:4553 semapv:UnspecifiedMatching +OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:GPX1 semapv:UnspecifiedMatching +OMIM:138320 GPX1 skos:exactMatch ncbigene:2876 semapv:UnspecifiedMatching +OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:4555 semapv:UnspecifiedMatching +OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:GPX3 semapv:UnspecifiedMatching +OMIM:138321 GPX3 skos:exactMatch ncbigene:2878 semapv:UnspecifiedMatching +OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:4556 semapv:UnspecifiedMatching +OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:GPX4 semapv:UnspecifiedMatching +OMIM:138322 GPX4 skos:exactMatch ncbigene:2879 semapv:UnspecifiedMatching +OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:7061 semapv:UnspecifiedMatching +OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:MGST1 semapv:UnspecifiedMatching +OMIM:138330 MGST1 skos:exactMatch ncbigene:4257 semapv:UnspecifiedMatching +OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:4636 semapv:UnspecifiedMatching +OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:GSTM4 semapv:UnspecifiedMatching +OMIM:138333 GSTM4 skos:exactMatch ncbigene:2948 semapv:UnspecifiedMatching +OMIM:138340 glutathione transferase activity toward trans-stilbene oxide skos:exactMatch MONDO:0007676 semapv:UnspecifiedMatching +OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:4632 semapv:UnspecifiedMatching +OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:GSTM1 semapv:UnspecifiedMatching +OMIM:138350 GSTM1 skos:exactMatch ncbigene:2944 semapv:UnspecifiedMatching +OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:4626 semapv:UnspecifiedMatching +OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:GSTA1 semapv:UnspecifiedMatching +OMIM:138359 GSTA1 skos:exactMatch ncbigene:2938 semapv:UnspecifiedMatching +OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:4627 semapv:UnspecifiedMatching +OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:GSTA2 semapv:UnspecifiedMatching +OMIM:138360 GSTA2 skos:exactMatch ncbigene:2939 semapv:UnspecifiedMatching +OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:4634 semapv:UnspecifiedMatching +OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:GSTM2 semapv:UnspecifiedMatching +OMIM:138380 GSTM2 skos:exactMatch ncbigene:2946 semapv:UnspecifiedMatching +OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:4637 semapv:UnspecifiedMatching +OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:GSTM5 semapv:UnspecifiedMatching +OMIM:138385 GSTM5 skos:exactMatch ncbigene:2949 semapv:UnspecifiedMatching +OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:4635 semapv:UnspecifiedMatching +OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:GSTM3 semapv:UnspecifiedMatching +OMIM:138390 GSTM3 skos:exactMatch ncbigene:2947 semapv:UnspecifiedMatching +OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:4141 semapv:UnspecifiedMatching +OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:GAPDH semapv:UnspecifiedMatching +OMIM:138400 GAPDH skos:exactMatch ncbigene:2597 semapv:UnspecifiedMatching +OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:4455 semapv:UnspecifiedMatching +OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:GPD1 semapv:UnspecifiedMatching +OMIM:138420 GPD1 skos:exactMatch ncbigene:2819 semapv:UnspecifiedMatching +OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:4456 semapv:UnspecifiedMatching +OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:GPD2 semapv:UnspecifiedMatching +OMIM:138430 GPD2 skos:exactMatch ncbigene:2820 semapv:UnspecifiedMatching +OMIM:138440 GART skos:exactMatch hgnc.symbol:4163 semapv:UnspecifiedMatching +OMIM:138440 GART skos:exactMatch hgnc.symbol:GART semapv:UnspecifiedMatching +OMIM:138440 GART skos:exactMatch ncbigene:2618 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch UMLS:C1420040 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:10852 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:SHMT2 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch ncbigene:6472 semapv:UnspecifiedMatching +OMIM:138470 CFB skos:exactMatch hgnc.symbol:1037 semapv:UnspecifiedMatching +OMIM:138470 CFB skos:exactMatch hgnc.symbol:CFB semapv:UnspecifiedMatching +OMIM:138470 CFB skos:exactMatch ncbigene:629 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch UMLS:C1822742 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:29683 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:SLC25A32 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch ncbigene:81034 semapv:UnspecifiedMatching +OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:4326 semapv:UnspecifiedMatching +OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:GLRA1 semapv:UnspecifiedMatching +OMIM:138491 GLRA1 skos:exactMatch ncbigene:2741 semapv:UnspecifiedMatching +OMIM:138492 GLRB skos:exactMatch hgnc.symbol:4329 semapv:UnspecifiedMatching +OMIM:138492 GLRB skos:exactMatch hgnc.symbol:GLRB semapv:UnspecifiedMatching +OMIM:138492 GLRB skos:exactMatch ncbigene:2743 semapv:UnspecifiedMatching +OMIM:138500 hyperglycinuria skos:exactMatch MONDO:0007677 semapv:UnspecifiedMatching +OMIM:138550 PYGB skos:exactMatch hgnc.symbol:9723 semapv:UnspecifiedMatching +OMIM:138550 PYGB skos:exactMatch hgnc.symbol:PYGB semapv:UnspecifiedMatching +OMIM:138550 PYGB skos:exactMatch ncbigene:5834 semapv:UnspecifiedMatching +OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:4706 semapv:UnspecifiedMatching +OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:GYS1 semapv:UnspecifiedMatching +OMIM:138570 GYS1 skos:exactMatch ncbigene:2997 semapv:UnspecifiedMatching +OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:4707 semapv:UnspecifiedMatching +OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:GYS2 semapv:UnspecifiedMatching +OMIM:138571 GYS2 skos:exactMatch ncbigene:2998 semapv:UnspecifiedMatching +OMIM:138590 GYPE skos:exactMatch hgnc.symbol:4705 semapv:UnspecifiedMatching +OMIM:138590 GYPE skos:exactMatch hgnc.symbol:GYPE semapv:UnspecifiedMatching +OMIM:138590 GYPE skos:exactMatch ncbigene:2996 semapv:UnspecifiedMatching +OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:8498 semapv:UnspecifiedMatching +OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:ORM1 semapv:UnspecifiedMatching +OMIM:138600 ORM1 skos:exactMatch ncbigene:5004 semapv:UnspecifiedMatching +OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:8499 semapv:UnspecifiedMatching +OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:ORM2 semapv:UnspecifiedMatching +OMIM:138610 ORM2 skos:exactMatch ncbigene:5005 semapv:UnspecifiedMatching +OMIM:138670 A1BG skos:exactMatch hgnc.symbol:5 semapv:UnspecifiedMatching +OMIM:138670 A1BG skos:exactMatch hgnc.symbol:A1BG semapv:UnspecifiedMatching +OMIM:138670 A1BG skos:exactMatch ncbigene:1 semapv:UnspecifiedMatching +OMIM:138680 AHSG skos:exactMatch hgnc.symbol:349 semapv:UnspecifiedMatching +OMIM:138680 AHSG skos:exactMatch hgnc.symbol:AHSG semapv:UnspecifiedMatching +OMIM:138680 AHSG skos:exactMatch ncbigene:197 semapv:UnspecifiedMatching +OMIM:138700 APOH skos:exactMatch hgnc.symbol:616 semapv:UnspecifiedMatching +OMIM:138700 APOH skos:exactMatch hgnc.symbol:APOH semapv:UnspecifiedMatching +OMIM:138700 APOH skos:exactMatch ncbigene:350 semapv:UnspecifiedMatching +OMIM:138710 glycoprotein, renal skos:exactMatch MONDO:0007678 semapv:UnspecifiedMatching +OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:4440 semapv:UnspecifiedMatching +OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:GP1BB semapv:UnspecifiedMatching +OMIM:138720 GP1BB skos:exactMatch ncbigene:2812 semapv:UnspecifiedMatching +OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:4323 semapv:UnspecifiedMatching +OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:GLO1 semapv:UnspecifiedMatching +OMIM:138750 GLO1 skos:exactMatch ncbigene:2739 semapv:UnspecifiedMatching +OMIM:138760 HAGH skos:exactMatch hgnc.symbol:4805 semapv:UnspecifiedMatching +OMIM:138760 HAGH skos:exactMatch hgnc.symbol:HAGH semapv:UnspecifiedMatching +OMIM:138760 HAGH skos:exactMatch ncbigene:3029 semapv:UnspecifiedMatching +OMIM:138770 gms syndrome skos:exactMatch MONDO:0007679 semapv:UnspecifiedMatching +OMIM:138770 gms syndrome skos:exactMatch Orphanet:2090 semapv:UnspecifiedMatching +OMIM:138770 gms syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching +OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies skos:exactMatch MONDO:0007680 semapv:UnspecifiedMatching +OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors skos:exactMatch MONDO:0007681 semapv:UnspecifiedMatching +OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:4421 semapv:UnspecifiedMatching +OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:GNRHR semapv:UnspecifiedMatching +OMIM:138850 GNRHR skos:exactMatch ncbigene:2798 semapv:UnspecifiedMatching +OMIM:138890 GSC skos:exactMatch hgnc.symbol:4612 semapv:UnspecifiedMatching +OMIM:138890 GSC skos:exactMatch hgnc.symbol:GSC semapv:UnspecifiedMatching +OMIM:138890 GSC skos:exactMatch ncbigene:145258 semapv:UnspecifiedMatching +OMIM:138900 uric acid concentration, serum, quantitative trait locus 1 skos:exactMatch UMLS:C1841837 semapv:UnspecifiedMatching +OMIM:138920 granddad syndrome skos:exactMatch MONDO:0007682 semapv:UnspecifiedMatching +OMIM:138930 grant syndrome skos:exactMatch MONDO:0007683 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C0282513 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C1415311 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C3539123 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch UMLS:C4016134 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch hgnc.symbol:4601 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch hgnc.symbol:GRN semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch ncbigene:2896 semapv:UnspecifiedMatching +OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:2434 semapv:UnspecifiedMatching +OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:CSF2 semapv:UnspecifiedMatching +OMIM:138960 CSF2 skos:exactMatch ncbigene:1437 semapv:UnspecifiedMatching +OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:10643 semapv:UnspecifiedMatching +OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:CXCL6 semapv:UnspecifiedMatching +OMIM:138965 CXCL6 skos:exactMatch ncbigene:6372 semapv:UnspecifiedMatching +OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:2438 semapv:UnspecifiedMatching +OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:CSF3 semapv:UnspecifiedMatching +OMIM:138970 CSF3 skos:exactMatch ncbigene:1440 semapv:UnspecifiedMatching +OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:2439 semapv:UnspecifiedMatching +OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:CSF3R semapv:UnspecifiedMatching +OMIM:138971 CSF3R skos:exactMatch ncbigene:1441 semapv:UnspecifiedMatching +OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:1837 semapv:UnspecifiedMatching +OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:CEBPG semapv:UnspecifiedMatching +OMIM:138972 CEBPG skos:exactMatch ncbigene:1054 semapv:UnspecifiedMatching +OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:2436 semapv:UnspecifiedMatching +OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:CSF2RB semapv:UnspecifiedMatching +OMIM:138981 CSF2RB skos:exactMatch ncbigene:1439 semapv:UnspecifiedMatching +OMIM:139000 granulosis rubra nasi skos:exactMatch MONDO:0007685 semapv:UnspecifiedMatching +OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:10986 semapv:UnspecifiedMatching +OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:SLC25A16 semapv:UnspecifiedMatching +OMIM:139080 SLC25A16 skos:exactMatch ncbigene:8034 semapv:UnspecifiedMatching +OMIM:139090 gray platelet syndrome skos:exactMatch MONDO:0007686 semapv:UnspecifiedMatching +OMIM:139100 graying of hair, precocious skos:exactMatch MONDO:0007687 semapv:UnspecifiedMatching +OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:4603 semapv:UnspecifiedMatching +OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:CXCL2 semapv:UnspecifiedMatching +OMIM:139110 CXCL2 skos:exactMatch ncbigene:2920 semapv:UnspecifiedMatching +OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:4604 semapv:UnspecifiedMatching +OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:CXCL3 semapv:UnspecifiedMatching +OMIM:139111 CXCL3 skos:exactMatch ncbigene:2921 semapv:UnspecifiedMatching +OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:4400 semapv:UnspecifiedMatching +OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:GNB3 semapv:UnspecifiedMatching +OMIM:139130 GNB3 skos:exactMatch ncbigene:2784 semapv:UnspecifiedMatching +OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:7980 semapv:UnspecifiedMatching +OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:NR4A1 semapv:UnspecifiedMatching +OMIM:139139 NR4A1 skos:exactMatch ncbigene:3164 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch UMLS:C1419277 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch UMLS:C4747394 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:9871 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:RASA1 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch ncbigene:5921 semapv:UnspecifiedMatching +OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:4395 semapv:UnspecifiedMatching +OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:GNAZ semapv:UnspecifiedMatching +OMIM:139160 GNAZ skos:exactMatch ncbigene:2781 semapv:UnspecifiedMatching +OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:4386 semapv:UnspecifiedMatching +OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:GNAI2P1 semapv:UnspecifiedMatching +OMIM:139180 GNAI2P1 skos:exactMatch ncbigene:2772 semapv:UnspecifiedMatching +OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:4165 semapv:UnspecifiedMatching +OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:GAS1 semapv:UnspecifiedMatching +OMIM:139185 GAS1 skos:exactMatch ncbigene:2619 semapv:UnspecifiedMatching +OMIM:139190 GHRH skos:exactMatch hgnc.symbol:4265 semapv:UnspecifiedMatching +OMIM:139190 GHRH skos:exactMatch hgnc.symbol:GHRH semapv:UnspecifiedMatching +OMIM:139190 GHRH skos:exactMatch ncbigene:2691 semapv:UnspecifiedMatching +OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:4266 semapv:UnspecifiedMatching +OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:GHRHR semapv:UnspecifiedMatching +OMIM:139191 GHRHR skos:exactMatch ncbigene:2692 semapv:UnspecifiedMatching +OMIM:139200 GC skos:exactMatch hgnc.symbol:4187 semapv:UnspecifiedMatching +OMIM:139200 GC skos:exactMatch hgnc.symbol:GC semapv:UnspecifiedMatching +OMIM:139200 GC skos:exactMatch ncbigene:2638 semapv:UnspecifiedMatching +OMIM:139210 myhre syndrome skos:exactMatch MONDO:0007688 semapv:UnspecifiedMatching +OMIM:139210 myhre syndrome skos:exactMatch Orphanet:2588 semapv:UnspecifiedMatching +OMIM:139210 myhre syndrome skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching +OMIM:139240 GH2 skos:exactMatch hgnc.symbol:4262 semapv:UnspecifiedMatching +OMIM:139240 GH2 skos:exactMatch hgnc.symbol:GH2 semapv:UnspecifiedMatching +OMIM:139240 GH2 skos:exactMatch ncbigene:2689 semapv:UnspecifiedMatching +OMIM:139250 GH1 skos:exactMatch hgnc.symbol:4261 semapv:UnspecifiedMatching +OMIM:139250 GH1 skos:exactMatch hgnc.symbol:GH1 semapv:UnspecifiedMatching +OMIM:139250 GH1 skos:exactMatch ncbigene:2688 semapv:UnspecifiedMatching +OMIM:139255 MT3 skos:exactMatch hgnc.symbol:7408 semapv:UnspecifiedMatching +OMIM:139255 MT3 skos:exactMatch hgnc.symbol:MT3 semapv:UnspecifiedMatching +OMIM:139255 MT3 skos:exactMatch ncbigene:4504 semapv:UnspecifiedMatching +OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:4621 semapv:UnspecifiedMatching +OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:GSPT1 semapv:UnspecifiedMatching +OMIM:139259 GSPT1 skos:exactMatch ncbigene:2935 semapv:UnspecifiedMatching +OMIM:139260 GDA skos:exactMatch hgnc.symbol:4212 semapv:UnspecifiedMatching +OMIM:139260 GDA skos:exactMatch hgnc.symbol:GDA semapv:UnspecifiedMatching +OMIM:139260 GDA skos:exactMatch ncbigene:9615 semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch UMLS:C1415135 semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch UMLS:C4016138 semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch hgnc.symbol:4376 semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch hgnc.symbol:GMPR semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch ncbigene:2766 semapv:UnspecifiedMatching +OMIM:139270 GUK1 skos:exactMatch hgnc.symbol:4693 semapv:UnspecifiedMatching +OMIM:139270 GUK1 skos:exactMatch hgnc.symbol:GUK1 semapv:UnspecifiedMatching +OMIM:139270 GUK1 skos:exactMatch ncbigene:2987 semapv:UnspecifiedMatching +OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc.symbol:4694 semapv:UnspecifiedMatching +OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc.symbol:GUK2 semapv:UnspecifiedMatching +OMIM:139290 guanylate kinase 3 skos:exactMatch MONDO:0007689 semapv:UnspecifiedMatching +OMIM:139300 aromatase excess syndrome skos:exactMatch MONDO:0007690 semapv:UnspecifiedMatching +OMIM:139310 GNAI1 skos:exactMatch hgnc.symbol:4384 semapv:UnspecifiedMatching +OMIM:139310 GNAI1 skos:exactMatch hgnc.symbol:GNAI1 semapv:UnspecifiedMatching +OMIM:139310 GNAI1 skos:exactMatch ncbigene:2770 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch UMLS:C1415146 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch hgnc.symbol:4389 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch hgnc.symbol:GNAO1 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch ncbigene:2775 semapv:UnspecifiedMatching +OMIM:139312 GNAL skos:exactMatch hgnc.symbol:4388 semapv:UnspecifiedMatching +OMIM:139312 GNAL skos:exactMatch hgnc.symbol:GNAL semapv:UnspecifiedMatching +OMIM:139312 GNAL skos:exactMatch ncbigene:2774 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch UMLS:C1415138 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch UMLS:C3809243 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:4379 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:GNA11 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch ncbigene:2767 semapv:UnspecifiedMatching +OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:4383 semapv:UnspecifiedMatching +OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:GNA15 semapv:UnspecifiedMatching +OMIM:139314 GNA15 skos:exactMatch ncbigene:2769 semapv:UnspecifiedMatching +OMIM:139320 GNAS skos:exactMatch hgnc.symbol:4392 semapv:UnspecifiedMatching +OMIM:139320 GNAS skos:exactMatch hgnc.symbol:GNAS semapv:UnspecifiedMatching +OMIM:139320 GNAS skos:exactMatch ncbigene:2778 semapv:UnspecifiedMatching +OMIM:139330 GNAT1 skos:exactMatch hgnc.symbol:4393 semapv:UnspecifiedMatching +OMIM:139330 GNAT1 skos:exactMatch hgnc.symbol:GNAT1 semapv:UnspecifiedMatching +OMIM:139330 GNAT1 skos:exactMatch ncbigene:2779 semapv:UnspecifiedMatching +OMIM:139340 GNAT2 skos:exactMatch hgnc.symbol:4394 semapv:UnspecifiedMatching +OMIM:139340 GNAT2 skos:exactMatch hgnc.symbol:GNAT2 semapv:UnspecifiedMatching +OMIM:139340 GNAT2 skos:exactMatch ncbigene:2780 semapv:UnspecifiedMatching +OMIM:139350 KRT1 skos:exactMatch hgnc.symbol:6412 semapv:UnspecifiedMatching +OMIM:139350 KRT1 skos:exactMatch hgnc.symbol:KRT1 semapv:UnspecifiedMatching +OMIM:139350 KRT1 skos:exactMatch ncbigene:3848 semapv:UnspecifiedMatching +OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:4385 semapv:UnspecifiedMatching +OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:GNAI2 semapv:UnspecifiedMatching +OMIM:139360 GNAI2 skos:exactMatch ncbigene:2771 semapv:UnspecifiedMatching +OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:4387 semapv:UnspecifiedMatching +OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:GNAI3 semapv:UnspecifiedMatching +OMIM:139370 GNAI3 skos:exactMatch ncbigene:2773 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch UMLS:C1333687 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch UMLS:C4016619 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch UMLS:C4310774 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch UMLS:C4310990 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:4396 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:GNB1 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch ncbigene:2782 semapv:UnspecifiedMatching +OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:4398 semapv:UnspecifiedMatching +OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:GNB2 semapv:UnspecifiedMatching +OMIM:139390 GNB2 skos:exactMatch ncbigene:2783 semapv:UnspecifiedMatching +OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:4412 semapv:UnspecifiedMatching +OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:GNGT2 semapv:UnspecifiedMatching +OMIM:139391 GNGT2 skos:exactMatch ncbigene:2793 semapv:UnspecifiedMatching +OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:4682 semapv:UnspecifiedMatching +OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:GUCA2A semapv:UnspecifiedMatching +OMIM:139392 GUCA2A skos:exactMatch ncbigene:2980 semapv:UnspecifiedMatching +OMIM:139393 guillain-barre syndrome, familial skos:exactMatch MONDO:0007691 semapv:UnspecifiedMatching +OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:22800 semapv:UnspecifiedMatching +OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:GNAT3 semapv:UnspecifiedMatching +OMIM:139395 GNAT3 skos:exactMatch ncbigene:346562 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:4685 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:GUCY1A1 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A3 skos:exactMatch ncbigene:2982 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:4687 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B3 skos:exactMatch ncbigene:2983 semapv:UnspecifiedMatching +OMIM:139400 hair whorl skos:exactMatch MONDO:0044233 semapv:UnspecifiedMatching +OMIM:139450 hair morphology 2 skos:exactMatch MONDO:0044234 semapv:UnspecifiedMatching +OMIM:139500 hairy ears skos:exactMatch MONDO:0007692 semapv:UnspecifiedMatching +OMIM:139600 hairy elbows skos:exactMatch MONDO:0007693 semapv:UnspecifiedMatching +OMIM:139605 HES1 skos:exactMatch UMLS:C1415725 semapv:UnspecifiedMatching +OMIM:139605 HES1 skos:exactMatch hgnc.symbol:5192 semapv:UnspecifiedMatching +OMIM:139605 HES1 skos:exactMatch hgnc.symbol:HES1 semapv:UnspecifiedMatching +OMIM:139605 HES1 skos:exactMatch ncbigene:3280 semapv:UnspecifiedMatching +OMIM:139630 hairy nose tip skos:exactMatch MONDO:0007694 semapv:UnspecifiedMatching +OMIM:139650 hairy palms and soles skos:exactMatch MONDO:0007695 semapv:UnspecifiedMatching +OMIM:139750 hand and foot deformity with flat facies skos:exactMatch MONDO:0007696 semapv:UnspecifiedMatching +OMIM:139800 hand clasping pattern skos:exactMatch MONDO:0007697 semapv:UnspecifiedMatching +OMIM:139900 hand skill, relative skos:exactMatch MONDO:0044235 semapv:UnspecifiedMatching +OMIM:140000 hand-foot-genital syndrome skos:exactMatch MONDO:0007698 semapv:UnspecifiedMatching +OMIM:140000 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching +OMIM:140000 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch UMLS:C1415379 semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch hgnc.symbol:4708 semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch hgnc.symbol:GZMA semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch ncbigene:3001 semapv:UnspecifiedMatching +OMIM:140100 HP skos:exactMatch hgnc.symbol:5141 semapv:UnspecifiedMatching +OMIM:140100 HP skos:exactMatch hgnc.symbol:HP semapv:UnspecifiedMatching +OMIM:140100 HP skos:exactMatch ncbigene:3240 semapv:UnspecifiedMatching +OMIM:140210 HPR skos:exactMatch hgnc.symbol:5156 semapv:UnspecifiedMatching +OMIM:140210 HPR skos:exactMatch hgnc.symbol:HPR semapv:UnspecifiedMatching +OMIM:140210 HPR skos:exactMatch ncbigene:3250 semapv:UnspecifiedMatching +OMIM:140300 hashimoto thyroiditis skos:exactMatch MONDO:0007699 semapv:UnspecifiedMatching +OMIM:140350 hawkinsinuria skos:exactMatch MONDO:0007700 semapv:UnspecifiedMatching +OMIM:140350 hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching +OMIM:140350 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching +OMIM:140400 progressive familial heart block, iia 2 skos:exactMatch MONDO:0007701 semapv:UnspecifiedMatching +OMIM:140450 heart-hand syndrome, spanish iia skos:exactMatch MONDO:0007702 semapv:UnspecifiedMatching +OMIM:140500 heart, malformation of skos:exactMatch MONDO:0009327 semapv:UnspecifiedMatching +OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:5232 semapv:UnspecifiedMatching +OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:HSPA1A semapv:UnspecifiedMatching +OMIM:140550 HSPA1A skos:exactMatch ncbigene:3303 semapv:UnspecifiedMatching +OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:5239 semapv:UnspecifiedMatching +OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:HSPA6 semapv:UnspecifiedMatching +OMIM:140555 HSPA6 skos:exactMatch ncbigene:3310 semapv:UnspecifiedMatching +OMIM:140556 HSPA7 skos:exactMatch UMLS:C1415763 semapv:UnspecifiedMatching +OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:5240 semapv:UnspecifiedMatching +OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:HSPA7 semapv:UnspecifiedMatching +OMIM:140556 HSPA7 skos:exactMatch ncbigene:3311 semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch UMLS:C1415757 semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:5234 semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:HSPA1L semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch ncbigene:3305 semapv:UnspecifiedMatching +OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:5235 semapv:UnspecifiedMatching +OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:HSPA2 semapv:UnspecifiedMatching +OMIM:140560 HSPA2 skos:exactMatch ncbigene:3306 semapv:UnspecifiedMatching +OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:5253 semapv:UnspecifiedMatching +OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:HSP90AA1 semapv:UnspecifiedMatching +OMIM:140571 HSP90AA1 skos:exactMatch ncbigene:3320 semapv:UnspecifiedMatching +OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:5258 semapv:UnspecifiedMatching +OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:HSP90AB1 semapv:UnspecifiedMatching +OMIM:140572 HSP90AB1 skos:exactMatch ncbigene:3326 semapv:UnspecifiedMatching +OMIM:140575 HSP90AA2P skos:exactMatch hgnc.symbol:5256 semapv:UnspecifiedMatching +OMIM:140575 HSP90AA2P skos:exactMatch hgnc.symbol:HSP90AA2P semapv:UnspecifiedMatching +OMIM:140575 HSP90AA2P skos:exactMatch ncbigene:3324 semapv:UnspecifiedMatching +OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:5224 semapv:UnspecifiedMatching +OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:HSF1 semapv:UnspecifiedMatching +OMIM:140580 HSF1 skos:exactMatch ncbigene:3297 semapv:UnspecifiedMatching +OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:5225 semapv:UnspecifiedMatching +OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:HSF2 semapv:UnspecifiedMatching +OMIM:140581 HSF2 skos:exactMatch ncbigene:3298 semapv:UnspecifiedMatching +OMIM:140600 osteoarthritis susceptibility 2 skos:exactMatch MONDO:0007704 semapv:UnspecifiedMatching +OMIM:140700 heinz body anemias skos:exactMatch MONDO:0007705 semapv:UnspecifiedMatching +OMIM:140750 ST5 skos:exactMatch hgnc.symbol:11350 semapv:UnspecifiedMatching +OMIM:140750 ST5 skos:exactMatch hgnc.symbol:DENND2B semapv:UnspecifiedMatching +OMIM:140750 ST5 skos:exactMatch ncbigene:6764 semapv:UnspecifiedMatching +OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe skos:exactMatch MONDO:0007706 semapv:UnspecifiedMatching +OMIM:140900 hemangiomas of small intestine skos:exactMatch MONDO:0007707 semapv:UnspecifiedMatching +OMIM:141000 hemangioma-thrombocytopenia syndrome skos:exactMatch MONDO:0007708 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch UMLS:C1826388 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:4862 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:NCKAP1L semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch ncbigene:3071 semapv:UnspecifiedMatching +OMIM:141200 hematuria, benign familial, 1 skos:exactMatch MONDO:0007709 semapv:UnspecifiedMatching +OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:5013 semapv:UnspecifiedMatching +OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:HMOX1 semapv:UnspecifiedMatching +OMIM:141250 HMOX1 skos:exactMatch ncbigene:3162 semapv:UnspecifiedMatching +OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:5014 semapv:UnspecifiedMatching +OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:HMOX2 semapv:UnspecifiedMatching +OMIM:141251 HMOX2 skos:exactMatch ncbigene:3163 semapv:UnspecifiedMatching +OMIM:141300 hemifacial atrophy, progressive skos:exactMatch MONDO:0007710 semapv:UnspecifiedMatching +OMIM:141350 hemifacial hyperplasia with strabismus skos:exactMatch MONDO:0007711 semapv:UnspecifiedMatching +OMIM:141400 hemifacial microsomia with radial defects skos:exactMatch MONDO:0007712 semapv:UnspecifiedMatching +OMIM:141405 hemifacial spasm, familial skos:exactMatch MONDO:0007713 semapv:UnspecifiedMatching +OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch MONDO:0020756 semapv:UnspecifiedMatching +OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching +OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching +OMIM:141700 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch MONDO:0007715 semapv:UnspecifiedMatching +OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia skos:exactMatch MONDO:0007716 semapv:UnspecifiedMatching +OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:4823 semapv:UnspecifiedMatching +OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:HBA1 semapv:UnspecifiedMatching +OMIM:141800 HBA1 skos:exactMatch ncbigene:3039 semapv:UnspecifiedMatching +OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:4824 semapv:UnspecifiedMatching +OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:HBA2 semapv:UnspecifiedMatching +OMIM:141850 HBA2 skos:exactMatch ncbigene:3040 semapv:UnspecifiedMatching +OMIM:141900 HBB skos:exactMatch hgnc.symbol:4827 semapv:UnspecifiedMatching +OMIM:141900 HBB skos:exactMatch hgnc.symbol:HBB semapv:UnspecifiedMatching +OMIM:141900 HBB skos:exactMatch ncbigene:3043 semapv:UnspecifiedMatching +OMIM:142000 HBD skos:exactMatch hgnc.symbol:4829 semapv:UnspecifiedMatching +OMIM:142000 HBD skos:exactMatch hgnc.symbol:HBD semapv:UnspecifiedMatching +OMIM:142000 HBD skos:exactMatch ncbigene:3045 semapv:UnspecifiedMatching +OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:4830 semapv:UnspecifiedMatching +OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:HBE1 semapv:UnspecifiedMatching +OMIM:142100 HBE1 skos:exactMatch ncbigene:3046 semapv:UnspecifiedMatching +OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:4831 semapv:UnspecifiedMatching +OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:HBG1 semapv:UnspecifiedMatching +OMIM:142200 HBG1 skos:exactMatch ncbigene:3047 semapv:UnspecifiedMatching +OMIM:142210 HIST1H1D skos:exactMatch hgnc.symbol:4717 semapv:UnspecifiedMatching +OMIM:142210 HIST1H1D skos:exactMatch hgnc.symbol:H1-3 semapv:UnspecifiedMatching +OMIM:142210 HIST1H1D skos:exactMatch ncbigene:3007 semapv:UnspecifiedMatching +OMIM:142220 HIST1H1E skos:exactMatch hgnc.symbol:4718 semapv:UnspecifiedMatching +OMIM:142220 HIST1H1E skos:exactMatch hgnc.symbol:H1-4 semapv:UnspecifiedMatching +OMIM:142220 HIST1H1E skos:exactMatch ncbigene:3008 semapv:UnspecifiedMatching +OMIM:142230 CD34 skos:exactMatch hgnc.symbol:1662 semapv:UnspecifiedMatching +OMIM:142230 CD34 skos:exactMatch hgnc.symbol:CD34 semapv:UnspecifiedMatching +OMIM:142230 CD34 skos:exactMatch ncbigene:947 semapv:UnspecifiedMatching +OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:4833 semapv:UnspecifiedMatching +OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:HBQ1 semapv:UnspecifiedMatching +OMIM:142240 HBQ1 skos:exactMatch ncbigene:3049 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C0019025 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C1415486 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3151421 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891080 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891081 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891082 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891083 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891084 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891085 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891086 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891087 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891088 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891089 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891090 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891091 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891092 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891093 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891094 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891095 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891096 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891097 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891098 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891099 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891100 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891101 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C3891102 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016200 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016201 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016202 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016203 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4016204 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285097 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285103 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285104 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285105 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285224 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285225 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285226 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285227 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285228 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285229 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4285230 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch UMLS:C4310970 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:4832 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:HBG2 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch ncbigene:3048 semapv:UnspecifiedMatching +OMIM:142290 HPX skos:exactMatch hgnc.symbol:5171 semapv:UnspecifiedMatching +OMIM:142290 HPX skos:exactMatch hgnc.symbol:HPX semapv:UnspecifiedMatching +OMIM:142290 HPX skos:exactMatch ncbigene:3263 semapv:UnspecifiedMatching +OMIM:142309 hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain skos:exactMatch MONDO:0007717 semapv:UnspecifiedMatching +OMIM:142310 HBZ skos:exactMatch hgnc.symbol:4835 semapv:UnspecifiedMatching +OMIM:142310 HBZ skos:exactMatch hgnc.symbol:HBZ semapv:UnspecifiedMatching +OMIM:142310 HBZ skos:exactMatch ncbigene:3050 semapv:UnspecifiedMatching +OMIM:142330 hepatic adenomas, familial skos:exactMatch MONDO:0007718 semapv:UnspecifiedMatching +OMIM:142340 diaphragmatic hernia, congenital skos:exactMatch MONDO:0007719 semapv:UnspecifiedMatching +OMIM:142350 hernia, double inguinal skos:exactMatch MONDO:0007720 semapv:UnspecifiedMatching +OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:4838 semapv:UnspecifiedMatching +OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:SERPIND1 semapv:UnspecifiedMatching +OMIM:142360 HCF2 skos:exactMatch ncbigene:3053 semapv:UnspecifiedMatching +OMIM:142370 HCK skos:exactMatch hgnc.symbol:4840 semapv:UnspecifiedMatching +OMIM:142370 HCK skos:exactMatch hgnc.symbol:HCK semapv:UnspecifiedMatching +OMIM:142370 HCK skos:exactMatch ncbigene:3055 semapv:UnspecifiedMatching +OMIM:142385 HLF skos:exactMatch hgnc.symbol:4977 semapv:UnspecifiedMatching +OMIM:142385 HLF skos:exactMatch hgnc.symbol:HLF semapv:UnspecifiedMatching +OMIM:142385 HLF skos:exactMatch ncbigene:3131 semapv:UnspecifiedMatching +OMIM:142395 hepatitis B vaccine, response to skos:exactMatch MONDO:0044236 semapv:UnspecifiedMatching +OMIM:142400 hernia, hiatus skos:exactMatch MONDO:0007721 semapv:UnspecifiedMatching +OMIM:142408 MST1 skos:exactMatch hgnc.symbol:7380 semapv:UnspecifiedMatching +OMIM:142408 MST1 skos:exactMatch hgnc.symbol:MST1 semapv:UnspecifiedMatching +OMIM:142408 MST1 skos:exactMatch ncbigene:4485 semapv:UnspecifiedMatching +OMIM:142409 HGF skos:exactMatch hgnc.symbol:4893 semapv:UnspecifiedMatching +OMIM:142409 HGF skos:exactMatch hgnc.symbol:HGF semapv:UnspecifiedMatching +OMIM:142409 HGF skos:exactMatch ncbigene:3082 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1266042 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1420631 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1838100 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1840623 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C3276902 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:11621 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:HNF1A semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch ncbigene:6927 semapv:UnspecifiedMatching +OMIM:142440 HPN skos:exactMatch hgnc.symbol:5155 semapv:UnspecifiedMatching +OMIM:142440 HPN skos:exactMatch hgnc.symbol:HPN semapv:UnspecifiedMatching +OMIM:142440 HPN skos:exactMatch ncbigene:3249 semapv:UnspecifiedMatching +OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:7997 semapv:UnspecifiedMatching +OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:NRG1 semapv:UnspecifiedMatching +OMIM:142445 NRG1 skos:exactMatch ncbigene:3084 semapv:UnspecifiedMatching +OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:10659 semapv:UnspecifiedMatching +OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:SDC2 semapv:UnspecifiedMatching +OMIM:142460 SDC2 skos:exactMatch ncbigene:6383 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch UMLS:C1415793 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch UMLS:C4551479 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:5273 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:HSPG2 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch ncbigene:3339 semapv:UnspecifiedMatching +OMIM:142500 heterochromia iridis skos:exactMatch MONDO:0007722 semapv:UnspecifiedMatching +OMIM:142560 DDX39B skos:exactMatch UMLS:C1422269 semapv:UnspecifiedMatching +OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:13917 semapv:UnspecifiedMatching +OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:DDX39B semapv:UnspecifiedMatching +OMIM:142560 DDX39B skos:exactMatch ncbigene:7919 semapv:UnspecifiedMatching +OMIM:142570 HK3 skos:exactMatch hgnc.symbol:4925 semapv:UnspecifiedMatching +OMIM:142570 HK3 skos:exactMatch hgnc.symbol:HK3 semapv:UnspecifiedMatching +OMIM:142570 HK3 skos:exactMatch ncbigene:3101 semapv:UnspecifiedMatching +OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:13918 semapv:UnspecifiedMatching +OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:PRRC2A semapv:UnspecifiedMatching +OMIM:142580 PRRC2A skos:exactMatch ncbigene:7916 semapv:UnspecifiedMatching +OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:13919 semapv:UnspecifiedMatching +OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:BAG6 semapv:UnspecifiedMatching +OMIM:142590 BAG6 skos:exactMatch ncbigene:7917 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C1415554 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C3150343 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C4479526 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch UMLS:C5231404 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch hgnc.symbol:4922 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch hgnc.symbol:HK1 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch ncbigene:3098 semapv:UnspecifiedMatching +OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:13920 semapv:UnspecifiedMatching +OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:GPANK1 semapv:UnspecifiedMatching +OMIM:142610 GPANK1 skos:exactMatch ncbigene:7918 semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch UMLS:C1422273 semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:13921 semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:ABHD16A semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch ncbigene:7920 semapv:UnspecifiedMatching +OMIM:142622 HPCA skos:exactMatch hgnc.symbol:5144 semapv:UnspecifiedMatching +OMIM:142622 HPCA skos:exactMatch hgnc.symbol:HPCA semapv:UnspecifiedMatching +OMIM:142622 HPCA skos:exactMatch ncbigene:3208 semapv:UnspecifiedMatching +OMIM:142623 hirschsprung disease, susceptibility to, 1 skos:exactMatch MONDO:0007723 semapv:UnspecifiedMatching +OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation skos:exactMatch MONDO:0007724 semapv:UnspecifiedMatching +OMIM:142630 histiocytosis, progressive mucinous skos:exactMatch MONDO:0007725 semapv:UnspecifiedMatching +OMIM:142640 HRG skos:exactMatch hgnc.symbol:5181 semapv:UnspecifiedMatching +OMIM:142640 HRG skos:exactMatch hgnc.symbol:HRG semapv:UnspecifiedMatching +OMIM:142640 HRG skos:exactMatch ncbigene:3273 semapv:UnspecifiedMatching +OMIM:142669 beukes hip dysplasia skos:exactMatch MONDO:0007726 semapv:UnspecifiedMatching +OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch MONDO:0007727 semapv:UnspecifiedMatching +OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch Orphanet:32960 semapv:UnspecifiedMatching +OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching +OMIM:142690 acne inversa, familial, 1 skos:exactMatch MONDO:0007728 semapv:UnspecifiedMatching +OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:4857 semapv:UnspecifiedMatching +OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:HDLBP semapv:UnspecifiedMatching +OMIM:142695 HDLBP skos:exactMatch ncbigene:3069 semapv:UnspecifiedMatching +OMIM:142700 developmental dysplasia of the hip 1 skos:exactMatch MONDO:0007729 semapv:UnspecifiedMatching +OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:5283 semapv:UnspecifiedMatching +OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:HTN1 semapv:UnspecifiedMatching +OMIM:142701 HTN1 skos:exactMatch ncbigene:3346 semapv:UnspecifiedMatching +OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:5284 semapv:UnspecifiedMatching +OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:HTN3 semapv:UnspecifiedMatching +OMIM:142702 HTN3 skos:exactMatch ncbigene:3347 semapv:UnspecifiedMatching +OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:5183 semapv:UnspecifiedMatching +OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:HRH2 semapv:UnspecifiedMatching +OMIM:142703 HRH2 skos:exactMatch ncbigene:3274 semapv:UnspecifiedMatching +OMIM:142704 HDC skos:exactMatch hgnc.symbol:4855 semapv:UnspecifiedMatching +OMIM:142704 HDC skos:exactMatch hgnc.symbol:HDC semapv:UnspecifiedMatching +OMIM:142704 HDC skos:exactMatch ncbigene:3067 semapv:UnspecifiedMatching +OMIM:142705 HRC skos:exactMatch hgnc.symbol:5178 semapv:UnspecifiedMatching +OMIM:142705 HRC skos:exactMatch hgnc.symbol:HRC semapv:UnspecifiedMatching +OMIM:142705 HRC skos:exactMatch ncbigene:3270 semapv:UnspecifiedMatching +OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:4714 semapv:UnspecifiedMatching +OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:H1-0 semapv:UnspecifiedMatching +OMIM:142708 H1F0 skos:exactMatch ncbigene:3005 semapv:UnspecifiedMatching +OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:4715 semapv:UnspecifiedMatching +OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:H1-1 semapv:UnspecifiedMatching +OMIM:142709 HIST1H1A skos:exactMatch ncbigene:3024 semapv:UnspecifiedMatching +OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:4716 semapv:UnspecifiedMatching +OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:H1-2 semapv:UnspecifiedMatching +OMIM:142710 HIST1H1C skos:exactMatch ncbigene:3006 semapv:UnspecifiedMatching +OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:4719 semapv:UnspecifiedMatching +OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:H1-5 semapv:UnspecifiedMatching +OMIM:142711 HIST1H1B skos:exactMatch ncbigene:3009 semapv:UnspecifiedMatching +OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:4720 semapv:UnspecifiedMatching +OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:H1-6 semapv:UnspecifiedMatching +OMIM:142712 HIST1H1T skos:exactMatch ncbigene:3010 semapv:UnspecifiedMatching +OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:4736 semapv:UnspecifiedMatching +OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:H2AC18 semapv:UnspecifiedMatching +OMIM:142720 HIST2H2AA3 skos:exactMatch ncbigene:8337 semapv:UnspecifiedMatching +OMIM:142730 histiocytic dermatoarthritis skos:exactMatch MONDO:0007730 semapv:UnspecifiedMatching +OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:4794 semapv:UnspecifiedMatching +OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:H4C14 semapv:UnspecifiedMatching +OMIM:142750 H4C14 skos:exactMatch ncbigene:8370 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch UMLS:C1415408 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:4741 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:H2AZ1 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch ncbigene:3015 semapv:UnspecifiedMatching +OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:9983 semapv:UnspecifiedMatching +OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:RFX2 semapv:UnspecifiedMatching +OMIM:142765 RFX2 skos:exactMatch ncbigene:5990 semapv:UnspecifiedMatching +OMIM:142770 hla modifier skos:exactMatch MONDO:0007731 semapv:UnspecifiedMatching +OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:20503 semapv:UnspecifiedMatching +OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:H3C14 semapv:UnspecifiedMatching +OMIM:142780 HIST2H3C skos:exactMatch ncbigene:126961 semapv:UnspecifiedMatching +OMIM:142790 CD74 skos:exactMatch hgnc.symbol:1697 semapv:UnspecifiedMatching +OMIM:142790 CD74 skos:exactMatch hgnc.symbol:CD74 semapv:UnspecifiedMatching +OMIM:142790 CD74 skos:exactMatch ncbigene:972 semapv:UnspecifiedMatching +OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:4931 semapv:UnspecifiedMatching +OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:HLA-A semapv:UnspecifiedMatching +OMIM:142800 HLA-A skos:exactMatch ncbigene:3105 semapv:UnspecifiedMatching +OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:4816 semapv:UnspecifiedMatching +OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:HARS1 semapv:UnspecifiedMatching +OMIM:142810 HARS1 skos:exactMatch ncbigene:3035 semapv:UnspecifiedMatching +OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:4932 semapv:UnspecifiedMatching +OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:HLA-B semapv:UnspecifiedMatching +OMIM:142830 HLA-B skos:exactMatch ncbigene:3106 semapv:UnspecifiedMatching +OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:4933 semapv:UnspecifiedMatching +OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:HLA-C semapv:UnspecifiedMatching +OMIM:142840 HLA-C skos:exactMatch ncbigene:3107 semapv:UnspecifiedMatching +OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:4934 semapv:UnspecifiedMatching +OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:HLA-DMA semapv:UnspecifiedMatching +OMIM:142855 HLA-DMA skos:exactMatch ncbigene:3108 semapv:UnspecifiedMatching +OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:4935 semapv:UnspecifiedMatching +OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:HLA-DMB semapv:UnspecifiedMatching +OMIM:142856 HLA-DMB skos:exactMatch ncbigene:3109 semapv:UnspecifiedMatching +OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:4948 semapv:UnspecifiedMatching +OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:HLA-DRB1 semapv:UnspecifiedMatching +OMIM:142857 HLA-DRB1 skos:exactMatch ncbigene:3123 semapv:UnspecifiedMatching +OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:4940 semapv:UnspecifiedMatching +OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:HLA-DPB1 semapv:UnspecifiedMatching +OMIM:142858 HLA-DPB1 skos:exactMatch ncbigene:3115 semapv:UnspecifiedMatching +OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:4947 semapv:UnspecifiedMatching +OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:HLA-DRA semapv:UnspecifiedMatching +OMIM:142860 HLA-DRA skos:exactMatch ncbigene:3122 semapv:UnspecifiedMatching +OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:4964 semapv:UnspecifiedMatching +OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:HLA-G semapv:UnspecifiedMatching +OMIM:142871 HLA-G skos:exactMatch ncbigene:3135 semapv:UnspecifiedMatching +OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:4938 semapv:UnspecifiedMatching +OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:HLA-DPA1 semapv:UnspecifiedMatching +OMIM:142880 HLA-DPA1 skos:exactMatch ncbigene:3113 semapv:UnspecifiedMatching +OMIM:142900 holt-oram syndrome skos:exactMatch MONDO:0007732 semapv:UnspecifiedMatching +OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:5006 semapv:UnspecifiedMatching +OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:HMGCR semapv:UnspecifiedMatching +OMIM:142910 HMGCR skos:exactMatch ncbigene:3156 semapv:UnspecifiedMatching +OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:4936 semapv:UnspecifiedMatching +OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:HLA-DOA semapv:UnspecifiedMatching +OMIM:142930 HLA-DNA skos:exactMatch ncbigene:3111 semapv:UnspecifiedMatching +OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:5007 semapv:UnspecifiedMatching +OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:HMGCS1 semapv:UnspecifiedMatching +OMIM:142940 HMGCS1 skos:exactMatch ncbigene:3157 semapv:UnspecifiedMatching +OMIM:142945 holoprosencephaly 3 skos:exactMatch MONDO:0007733 semapv:UnspecifiedMatching +OMIM:142946 holoprosencephaly 4 skos:exactMatch MONDO:0007734 semapv:UnspecifiedMatching +OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:5108 semapv:UnspecifiedMatching +OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:HOXA7 semapv:UnspecifiedMatching +OMIM:142950 HOXA7 skos:exactMatch ncbigene:3204 semapv:UnspecifiedMatching +OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:5107 semapv:UnspecifiedMatching +OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:HOXA6 semapv:UnspecifiedMatching +OMIM:142951 HOXA6 skos:exactMatch ncbigene:3203 semapv:UnspecifiedMatching +OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:5106 semapv:UnspecifiedMatching +OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:HOXA5 semapv:UnspecifiedMatching +OMIM:142952 HOXA5 skos:exactMatch ncbigene:3202 semapv:UnspecifiedMatching +OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:5105 semapv:UnspecifiedMatching +OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:HOXA4 semapv:UnspecifiedMatching +OMIM:142953 HOXA4 skos:exactMatch ncbigene:3201 semapv:UnspecifiedMatching +OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:5104 semapv:UnspecifiedMatching +OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:HOXA3 semapv:UnspecifiedMatching +OMIM:142954 HOXA3 skos:exactMatch ncbigene:3200 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch UMLS:C1415653 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:5099 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:HOXA1 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch ncbigene:3198 semapv:UnspecifiedMatching +OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:5109 semapv:UnspecifiedMatching +OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:HOXA9 semapv:UnspecifiedMatching +OMIM:142956 HOXA9 skos:exactMatch ncbigene:3205 semapv:UnspecifiedMatching +OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:5100 semapv:UnspecifiedMatching +OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:HOXA10 semapv:UnspecifiedMatching +OMIM:142957 HOXA10 skos:exactMatch ncbigene:3206 semapv:UnspecifiedMatching +OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:5101 semapv:UnspecifiedMatching +OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:HOXA11 semapv:UnspecifiedMatching +OMIM:142958 HOXA11 skos:exactMatch ncbigene:3207 semapv:UnspecifiedMatching +OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:5102 semapv:UnspecifiedMatching +OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:HOXA13 semapv:UnspecifiedMatching +OMIM:142959 HOXA13 skos:exactMatch ncbigene:3209 semapv:UnspecifiedMatching +OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:5116 semapv:UnspecifiedMatching +OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:HOXB5 semapv:UnspecifiedMatching +OMIM:142960 HOXB5 skos:exactMatch ncbigene:3215 semapv:UnspecifiedMatching +OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:5117 semapv:UnspecifiedMatching +OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:HOXB6 semapv:UnspecifiedMatching +OMIM:142961 HOXB6 skos:exactMatch ncbigene:3216 semapv:UnspecifiedMatching +OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:5118 semapv:UnspecifiedMatching +OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:HOXB7 semapv:UnspecifiedMatching +OMIM:142962 HOXB7 skos:exactMatch ncbigene:3217 semapv:UnspecifiedMatching +OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:5119 semapv:UnspecifiedMatching +OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:HOXB8 semapv:UnspecifiedMatching +OMIM:142963 HOXB8 skos:exactMatch ncbigene:3218 semapv:UnspecifiedMatching +OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:5120 semapv:UnspecifiedMatching +OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:HOXB9 semapv:UnspecifiedMatching +OMIM:142964 HOXB9 skos:exactMatch ncbigene:3219 semapv:UnspecifiedMatching +OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:5115 semapv:UnspecifiedMatching +OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:HOXB4 semapv:UnspecifiedMatching +OMIM:142965 HOXB4 skos:exactMatch ncbigene:3214 semapv:UnspecifiedMatching +OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:5114 semapv:UnspecifiedMatching +OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:HOXB3 semapv:UnspecifiedMatching +OMIM:142966 HOXB3 skos:exactMatch ncbigene:3213 semapv:UnspecifiedMatching +OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:5113 semapv:UnspecifiedMatching +OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:HOXB2 semapv:UnspecifiedMatching +OMIM:142967 HOXB2 skos:exactMatch ncbigene:3212 semapv:UnspecifiedMatching +OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:5111 semapv:UnspecifiedMatching +OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:HOXB1 semapv:UnspecifiedMatching +OMIM:142968 HOXB1 skos:exactMatch ncbigene:3211 semapv:UnspecifiedMatching +OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:5129 semapv:UnspecifiedMatching +OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:HOXC8 semapv:UnspecifiedMatching +OMIM:142970 HOXC8 skos:exactMatch ncbigene:3224 semapv:UnspecifiedMatching +OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:5130 semapv:UnspecifiedMatching +OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:HOXC9 semapv:UnspecifiedMatching +OMIM:142971 HOXC9 skos:exactMatch ncbigene:3225 semapv:UnspecifiedMatching +OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:5128 semapv:UnspecifiedMatching +OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:HOXC6 semapv:UnspecifiedMatching +OMIM:142972 HOXC6 skos:exactMatch ncbigene:3223 semapv:UnspecifiedMatching +OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:5127 semapv:UnspecifiedMatching +OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:HOXC5 semapv:UnspecifiedMatching +OMIM:142973 HOXC5 skos:exactMatch ncbigene:3222 semapv:UnspecifiedMatching +OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:5126 semapv:UnspecifiedMatching +OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:HOXC4 semapv:UnspecifiedMatching +OMIM:142974 HOXC4 skos:exactMatch ncbigene:3221 semapv:UnspecifiedMatching +OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:5124 semapv:UnspecifiedMatching +OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:HOXC12 semapv:UnspecifiedMatching +OMIM:142975 HOXC12 skos:exactMatch ncbigene:3228 semapv:UnspecifiedMatching +OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:5125 semapv:UnspecifiedMatching +OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:HOXC13 semapv:UnspecifiedMatching +OMIM:142976 HOXC13 skos:exactMatch ncbigene:3229 semapv:UnspecifiedMatching +OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:5137 semapv:UnspecifiedMatching +OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:HOXD3 semapv:UnspecifiedMatching +OMIM:142980 HOXD3 skos:exactMatch ncbigene:3232 semapv:UnspecifiedMatching +OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:5138 semapv:UnspecifiedMatching +OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:HOXD4 semapv:UnspecifiedMatching +OMIM:142981 HOXD4 skos:exactMatch ncbigene:3233 semapv:UnspecifiedMatching +OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:5140 semapv:UnspecifiedMatching +OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:HOXD9 semapv:UnspecifiedMatching +OMIM:142982 HOXD9 skos:exactMatch ncbigene:3235 semapv:UnspecifiedMatching +OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:7391 semapv:UnspecifiedMatching +OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:MSX1 semapv:UnspecifiedMatching +OMIM:142983 MSX1 skos:exactMatch ncbigene:4487 semapv:UnspecifiedMatching +OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:5133 semapv:UnspecifiedMatching +OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:HOXD10 semapv:UnspecifiedMatching +OMIM:142984 HOXD10 skos:exactMatch ncbigene:3236 semapv:UnspecifiedMatching +OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:5139 semapv:UnspecifiedMatching +OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:HOXD8 semapv:UnspecifiedMatching +OMIM:142985 HOXD8 skos:exactMatch ncbigene:3234 semapv:UnspecifiedMatching +OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:5134 semapv:UnspecifiedMatching +OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:HOXD11 semapv:UnspecifiedMatching +OMIM:142986 HOXD11 skos:exactMatch ncbigene:3237 semapv:UnspecifiedMatching +OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:5132 semapv:UnspecifiedMatching +OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:HOXD1 semapv:UnspecifiedMatching +OMIM:142987 HOXD1 skos:exactMatch ncbigene:3231 semapv:UnspecifiedMatching +OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:5135 semapv:UnspecifiedMatching +OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:HOXD12 semapv:UnspecifiedMatching +OMIM:142988 HOXD12 skos:exactMatch ncbigene:3238 semapv:UnspecifiedMatching +OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:5136 semapv:UnspecifiedMatching +OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:HOXD13 semapv:UnspecifiedMatching +OMIM:142989 HOXD13 skos:exactMatch ncbigene:3239 semapv:UnspecifiedMatching +OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:3507 semapv:UnspecifiedMatching +OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:EVX2 semapv:UnspecifiedMatching +OMIM:142991 EVX2 skos:exactMatch ncbigene:344191 semapv:UnspecifiedMatching +OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:5017 semapv:UnspecifiedMatching +OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:HMX1 semapv:UnspecifiedMatching +OMIM:142992 HMX1 skos:exactMatch ncbigene:3166 semapv:UnspecifiedMatching +OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:1975 semapv:UnspecifiedMatching +OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:VSX2 semapv:UnspecifiedMatching +OMIM:142993 VSX2 skos:exactMatch ncbigene:338917 semapv:UnspecifiedMatching +OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:4979 semapv:UnspecifiedMatching +OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:MNX1 semapv:UnspecifiedMatching +OMIM:142994 MNX1 skos:exactMatch ncbigene:3110 semapv:UnspecifiedMatching +OMIM:142995 HLX skos:exactMatch hgnc.symbol:4978 semapv:UnspecifiedMatching +OMIM:142995 HLX skos:exactMatch hgnc.symbol:HLX semapv:UnspecifiedMatching +OMIM:142995 HLX skos:exactMatch ncbigene:3142 semapv:UnspecifiedMatching +OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:3506 semapv:UnspecifiedMatching +OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:EVX1 semapv:UnspecifiedMatching +OMIM:142996 EVX1 skos:exactMatch ncbigene:2128 semapv:UnspecifiedMatching +OMIM:143000 horner syndrome, congenital skos:exactMatch MONDO:0007735 semapv:UnspecifiedMatching +OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:4962 semapv:UnspecifiedMatching +OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:HLA-E semapv:UnspecifiedMatching +OMIM:143010 HLA-E skos:exactMatch ncbigene:3133 semapv:UnspecifiedMatching +OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related skos:exactMatch MONDO:0007736 semapv:UnspecifiedMatching +OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:1166 semapv:UnspecifiedMatching +OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:RASSF7 semapv:UnspecifiedMatching +OMIM:143023 RASSF7 skos:exactMatch ncbigene:8045 semapv:UnspecifiedMatching +OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:4413 semapv:UnspecifiedMatching +OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:GNL1 semapv:UnspecifiedMatching +OMIM:143024 GNL1 skos:exactMatch ncbigene:2794 semapv:UnspecifiedMatching +OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:5180 semapv:UnspecifiedMatching +OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:HRES1 semapv:UnspecifiedMatching +OMIM:143025 HRES1 skos:exactMatch ncbigene:3272 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch UMLS:C1413246 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch hgnc.symbol:1709 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch hgnc.symbol:CD9 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch ncbigene:928 semapv:UnspecifiedMatching +OMIM:143050 humeroradial synostosis skos:exactMatch MONDO:0007737 semapv:UnspecifiedMatching +OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:4921 semapv:UnspecifiedMatching +OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:HIVEP2 semapv:UnspecifiedMatching +OMIM:143054 HIVEP2 skos:exactMatch ncbigene:3097 semapv:UnspecifiedMatching +OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:1599 semapv:UnspecifiedMatching +OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:CCNT1 semapv:UnspecifiedMatching +OMIM:143055 CCNT1 skos:exactMatch ncbigene:904 semapv:UnspecifiedMatching +OMIM:143089 FOXN2 skos:exactMatch hgnc.symbol:5281 semapv:UnspecifiedMatching +OMIM:143089 FOXN2 skos:exactMatch hgnc.symbol:FOXN2 semapv:UnspecifiedMatching +OMIM:143089 FOXN2 skos:exactMatch ncbigene:3344 semapv:UnspecifiedMatching +OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch MONDO:0007738 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch MONDO:0007739 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch Orphanet:248111 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch Orphanet:399 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching +OMIM:143110 HLA-F skos:exactMatch UMLS:C1415586 semapv:UnspecifiedMatching +OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:4963 semapv:UnspecifiedMatching +OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:HLA-F semapv:UnspecifiedMatching +OMIM:143110 HLA-F skos:exactMatch ncbigene:3134 semapv:UnspecifiedMatching +OMIM:143170 MEA1 skos:exactMatch hgnc.symbol:6986 semapv:UnspecifiedMatching +OMIM:143170 MEA1 skos:exactMatch hgnc.symbol:MEA1 semapv:UnspecifiedMatching +OMIM:143170 MEA1 skos:exactMatch ncbigene:4201 semapv:UnspecifiedMatching +OMIM:143200 wagner vitreoretinopathy skos:exactMatch MONDO:0007740 semapv:UnspecifiedMatching +OMIM:143400 congenital anomalies of kidney and urinary tract 2 skos:exactMatch MONDO:0027676 semapv:UnspecifiedMatching +OMIM:143450 HADHB skos:exactMatch hgnc.symbol:4803 semapv:UnspecifiedMatching +OMIM:143450 HADHB skos:exactMatch hgnc.symbol:HADHB semapv:UnspecifiedMatching +OMIM:143450 HADHB skos:exactMatch ncbigene:3032 semapv:UnspecifiedMatching +OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch MONDO:0007742 semapv:UnspecifiedMatching +OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc.symbol:5285 semapv:UnspecifiedMatching +OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc.symbol:HTOR semapv:UnspecifiedMatching +OMIM:143465 attention deficit-hyperactivity disorder skos:exactMatch MONDO:0100518 semapv:UnspecifiedMatching +OMIM:143465 attention deficit-hyperactivity disorder skos:exactMatch UMLS:C1263846 semapv:UnspecifiedMatching +OMIM:143470 hyperalphalipoproteinemia 1 skos:exactMatch MONDO:0007744 semapv:UnspecifiedMatching +OMIM:143500 gilbert syndrome skos:exactMatch MONDO:0007745 semapv:UnspecifiedMatching +OMIM:143850 orthostatic hypotensive disorder, streeten iia skos:exactMatch MONDO:0007746 semapv:UnspecifiedMatching +OMIM:143860 hyperchlorhidrosis, isolated skos:exactMatch MONDO:0007747 semapv:UnspecifiedMatching +OMIM:143870 hypercalciuria, absorptive, 2 skos:exactMatch MONDO:0007748 semapv:UnspecifiedMatching +OMIM:143880 hypercalcemia, infantile, 1 skos:exactMatch MONDO:0020739 semapv:UnspecifiedMatching +OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch MONDO:0007750 semapv:UnspecifiedMatching +OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching +OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C0745103 semapv:UnspecifiedMatching +OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C3276941 semapv:UnspecifiedMatching +OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch MONDO:0007751 semapv:UnspecifiedMatching +OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching +OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C1704417 semapv:UnspecifiedMatching +OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C3888316 semapv:UnspecifiedMatching +OMIM:144020 hypercholesterolemia suppressor skos:exactMatch MONDO:0044237 semapv:UnspecifiedMatching +OMIM:144050 hyperheparinemia skos:exactMatch MONDO:0007752 semapv:UnspecifiedMatching +OMIM:144100 hyperhidrosis, gustatory skos:exactMatch MONDO:0007753 semapv:UnspecifiedMatching +OMIM:144110 hyperhidrosis palmaris et plantaris skos:exactMatch MONDO:0007754 semapv:UnspecifiedMatching +OMIM:144120 hyperimmunoglobulin g1(a1) syndrome skos:exactMatch MONDO:0007755 semapv:UnspecifiedMatching +OMIM:144150 hyperkeratosis lenticularis perstans skos:exactMatch MONDO:0007756 semapv:UnspecifiedMatching +OMIM:144190 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch MONDO:0007757 semapv:UnspecifiedMatching +OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 skos:exactMatch MONDO:0007758 semapv:UnspecifiedMatching +OMIM:144250 hyperlipidemia, familial combined, 3 skos:exactMatch MONDO:0007759 semapv:UnspecifiedMatching +OMIM:144300 hyperlipoproteinemia, iia ii, and deafness skos:exactMatch MONDO:0007760 semapv:UnspecifiedMatching +OMIM:144600 hyperlipoproteinemia, iia 4 skos:exactMatch MONDO:0007761 semapv:UnspecifiedMatching +OMIM:144650 hyperlipoproteinemia, iia 5 skos:exactMatch MONDO:0007762 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch MONDO:0007763 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch Orphanet:422526 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0007134 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C2750825 semapv:UnspecifiedMatching +OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch MONDO:0007764 semapv:UnspecifiedMatching +OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch Orphanet:2790 semapv:UnspecifiedMatching +OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch UMLS:C0432273 semapv:UnspecifiedMatching +OMIM:144755 hyperostosis cranialis interna skos:exactMatch MONDO:0007765 semapv:UnspecifiedMatching +OMIM:144800 hyperostosis frontalis interna skos:exactMatch MONDO:0007766 semapv:UnspecifiedMatching +OMIM:145000 hyperparathyroidism 1 skos:exactMatch MONDO:0007767 semapv:UnspecifiedMatching +OMIM:145001 hyperparathyroidism 2 with jaw tumors skos:exactMatch MONDO:0007768 semapv:UnspecifiedMatching +OMIM:145100 hyperpigmentation of eyelids skos:exactMatch MONDO:0007769 semapv:UnspecifiedMatching +OMIM:145200 hyperpigmentation of fuldauer and kuijpers skos:exactMatch MONDO:0007770 semapv:UnspecifiedMatching +OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch MONDO:0007771 semapv:UnspecifiedMatching +OMIM:145260 pseudohypoaldosteronism, iia 2a skos:exactMatch MONDO:0007772 semapv:UnspecifiedMatching +OMIM:145270 hyperproglucagonemia skos:exactMatch MONDO:0007773 semapv:UnspecifiedMatching +OMIM:145290 hyperreflexia skos:exactMatch MONDO:0007774 semapv:UnspecifiedMatching +OMIM:145295 hypersecretion of adrenal androgens, familial skos:exactMatch MONDO:0007775 semapv:UnspecifiedMatching +OMIM:145300 hypersensitivity pneumonitis, familial skos:exactMatch MONDO:0007776 semapv:UnspecifiedMatching +OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch MONDO:0007777 semapv:UnspecifiedMatching +OMIM:145400 hypertelorism skos:exactMatch MONDO:0007778 semapv:UnspecifiedMatching +OMIM:145410 skos:exactMatch MONDO:0007779 semapv:UnspecifiedMatching +OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch MONDO:0800025 semapv:UnspecifiedMatching +OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch Orphanet:1519 semapv:UnspecifiedMatching +OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch UMLS:C0796179 semapv:UnspecifiedMatching +OMIM:145500 hypertension, essential skos:exactMatch MONDO:0007781 semapv:UnspecifiedMatching +OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:10522 semapv:UnspecifiedMatching +OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:ACSM3 semapv:UnspecifiedMatching +OMIM:145505 ACSM3 skos:exactMatch ncbigene:6296 semapv:UnspecifiedMatching +OMIM:145590 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch MONDO:0007782 semapv:UnspecifiedMatching +OMIM:145600 malignant hyperthermia, susceptibility to, 1 skos:exactMatch MONDO:0007783 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch MONDO:0007784 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:165994 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch UMLS:C1840364 semapv:UnspecifiedMatching +OMIM:145680 hyperthyroxinemia, dystransthyretinemic skos:exactMatch MONDO:0007785 semapv:UnspecifiedMatching +OMIM:145700 hypertrichosis lanuginosa congenita skos:exactMatch MONDO:0016381 semapv:UnspecifiedMatching +OMIM:145701 hypertrichosis universalis congenita, ambras iia skos:exactMatch MONDO:0007787 semapv:UnspecifiedMatching +OMIM:145750 hypertriglyceridemia 1 skos:exactMatch MONDO:0007788 semapv:UnspecifiedMatching +OMIM:145800 hypertrophia musculorum vera skos:exactMatch MONDO:0007789 semapv:UnspecifiedMatching +OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch MONDO:0007790 semapv:UnspecifiedMatching +OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch Orphanet:64748 semapv:UnspecifiedMatching +OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch UMLS:C0011195 semapv:UnspecifiedMatching +OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch MONDO:0007791 semapv:UnspecifiedMatching +OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching +OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:93372 semapv:UnspecifiedMatching +OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch UMLS:C0342637 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch MONDO:0007792 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:101049 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching +OMIM:146000 hypochondroplasia skos:exactMatch MONDO:0007793 semapv:UnspecifiedMatching +OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch MONDO:0007794 semapv:UnspecifiedMatching +OMIM:146160 hypomelia with mullerian duct anomalies skos:exactMatch MONDO:0007795 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch MONDO:0007796 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2239 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching +OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch MONDO:0007797 semapv:UnspecifiedMatching +OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch Orphanet:2237 semapv:UnspecifiedMatching +OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch UMLS:C1840333 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch MONDO:0007798 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247676 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching +OMIM:146350 hypophosphatemic bone disease skos:exactMatch MONDO:0007799 semapv:UnspecifiedMatching +OMIM:146390 chromosome 18p deletion syndrome skos:exactMatch MONDO:0007800 semapv:UnspecifiedMatching +OMIM:146400 skos:exactMatch MONDO:0007801 semapv:UnspecifiedMatching +OMIM:146450 hypospadias 3, autosomal skos:exactMatch MONDO:0007802 semapv:UnspecifiedMatching +OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch MONDO:0020715 semapv:UnspecifiedMatching +OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching +OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching +OMIM:146510 pallister-hall syndrome skos:exactMatch MONDO:0007804 semapv:UnspecifiedMatching +OMIM:146520 hypotrichosis 2 skos:exactMatch MONDO:0007805 semapv:UnspecifiedMatching +OMIM:146550 hypotrichosis 4 skos:exactMatch MONDO:0100522 semapv:UnspecifiedMatching +OMIM:146550 hypotrichosis 4 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching +OMIM:146550 hypotrichosis 4 skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching +OMIM:146580 hypoxanthine guanine phosphoribosyltransferase suppressor skos:exactMatch MONDO:0007807 semapv:UnspecifiedMatching +OMIM:146590 ichthyosis hystrix, curth-macklin iia skos:exactMatch MONDO:0007808 semapv:UnspecifiedMatching +OMIM:146600 ichthyosis hystrix, lambert iia skos:exactMatch MONDO:0007809 semapv:UnspecifiedMatching +OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:5345 semapv:UnspecifiedMatching +OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:ICAM2 semapv:UnspecifiedMatching +OMIM:146630 ICAM2 skos:exactMatch ncbigene:3384 semapv:UnspecifiedMatching +OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:5346 semapv:UnspecifiedMatching +OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:ICAM3 semapv:UnspecifiedMatching +OMIM:146631 ICAM3 skos:exactMatch ncbigene:3385 semapv:UnspecifiedMatching +OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:6167 semapv:UnspecifiedMatching +OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:ITIH2 semapv:UnspecifiedMatching +OMIM:146640 ITIH2 skos:exactMatch ncbigene:3698 semapv:UnspecifiedMatching +OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:6168 semapv:UnspecifiedMatching +OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:ITIH3 semapv:UnspecifiedMatching +OMIM:146650 ITIH3 skos:exactMatch ncbigene:3699 semapv:UnspecifiedMatching +OMIM:146660 IL7 skos:exactMatch hgnc.symbol:6023 semapv:UnspecifiedMatching +OMIM:146660 IL7 skos:exactMatch hgnc.symbol:IL7 semapv:UnspecifiedMatching +OMIM:146660 IL7 skos:exactMatch ncbigene:3574 semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch UMLS:C1334123 semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch UMLS:C1837028 semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch hgnc.symbol:6024 semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch hgnc.symbol:IL7R semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch ncbigene:3575 semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch UMLS:C1415875 semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch hgnc.symbol:5381 semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch hgnc.symbol:IDE semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch ncbigene:3416 semapv:UnspecifiedMatching +OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:6052 semapv:UnspecifiedMatching +OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:IMPDH1 semapv:UnspecifiedMatching +OMIM:146690 IMPDH1 skos:exactMatch ncbigene:3614 semapv:UnspecifiedMatching +OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:6053 semapv:UnspecifiedMatching +OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:IMPDH2 semapv:UnspecifiedMatching +OMIM:146691 IMPDH2 skos:exactMatch ncbigene:3615 semapv:UnspecifiedMatching +OMIM:146700 ichthyosis vulgaris skos:exactMatch MONDO:0007810 semapv:UnspecifiedMatching +OMIM:146700 ichthyosis vulgaris skos:exactMatch UMLS:C0079584 semapv:UnspecifiedMatching +OMIM:146710 IL2RB skos:exactMatch hgnc.symbol:6009 semapv:UnspecifiedMatching +OMIM:146710 IL2RB skos:exactMatch hgnc.symbol:IL2RB semapv:UnspecifiedMatching +OMIM:146710 IL2RB skos:exactMatch ncbigene:3560 semapv:UnspecifiedMatching +OMIM:146720 ichthyosis--cheek--eyebrow syndrome skos:exactMatch MONDO:0007811 semapv:UnspecifiedMatching +OMIM:146730 IGFBP1 skos:exactMatch hgnc.symbol:5469 semapv:UnspecifiedMatching +OMIM:146730 IGFBP1 skos:exactMatch hgnc.symbol:IGFBP1 semapv:UnspecifiedMatching +OMIM:146730 IGFBP1 skos:exactMatch ncbigene:3484 semapv:UnspecifiedMatching +OMIM:146731 IGFBP2 skos:exactMatch hgnc.symbol:5471 semapv:UnspecifiedMatching +OMIM:146731 IGFBP2 skos:exactMatch hgnc.symbol:IGFBP2 semapv:UnspecifiedMatching +OMIM:146731 IGFBP2 skos:exactMatch ncbigene:3485 semapv:UnspecifiedMatching +OMIM:146732 IGFBP3 skos:exactMatch hgnc.symbol:5472 semapv:UnspecifiedMatching +OMIM:146732 IGFBP3 skos:exactMatch hgnc.symbol:IGFBP3 semapv:UnspecifiedMatching +OMIM:146732 IGFBP3 skos:exactMatch ncbigene:3486 semapv:UnspecifiedMatching +OMIM:146733 IGFBP4 skos:exactMatch hgnc.symbol:5473 semapv:UnspecifiedMatching +OMIM:146733 IGFBP4 skos:exactMatch hgnc.symbol:IGFBP4 semapv:UnspecifiedMatching +OMIM:146733 IGFBP4 skos:exactMatch ncbigene:3487 semapv:UnspecifiedMatching +OMIM:146734 IGFBP5 skos:exactMatch hgnc.symbol:5474 semapv:UnspecifiedMatching +OMIM:146734 IGFBP5 skos:exactMatch hgnc.symbol:IGFBP5 semapv:UnspecifiedMatching +OMIM:146734 IGFBP5 skos:exactMatch ncbigene:3488 semapv:UnspecifiedMatching +OMIM:146735 IGFBP6 skos:exactMatch hgnc.symbol:5475 semapv:UnspecifiedMatching +OMIM:146735 IGFBP6 skos:exactMatch hgnc.symbol:IGFBP6 semapv:UnspecifiedMatching +OMIM:146735 IGFBP6 skos:exactMatch ncbigene:3489 semapv:UnspecifiedMatching +OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:6086 semapv:UnspecifiedMatching +OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:INSL3 semapv:UnspecifiedMatching +OMIM:146738 INSL3 skos:exactMatch ncbigene:3640 semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch UMLS:C1414555 semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:3619 semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:FCGR3A semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch ncbigene:2214 semapv:UnspecifiedMatching +OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch MONDO:0007812 semapv:UnspecifiedMatching +OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch Orphanet:313 semapv:UnspecifiedMatching +OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch UMLS:C1414550 semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch UMLS:C4016211 semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch UMLS:C4017539 semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch hgnc.symbol:3613 semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch hgnc.symbol:FCGR1A semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch ncbigene:2209 semapv:UnspecifiedMatching +OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:5870 semapv:UnspecifiedMatching +OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:IGLL1 semapv:UnspecifiedMatching +OMIM:146770 IGLL1 skos:exactMatch ncbigene:3543 semapv:UnspecifiedMatching +OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:5717 semapv:UnspecifiedMatching +OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:IGKDEL semapv:UnspecifiedMatching +OMIM:146780 IGKDEL skos:exactMatch ncbigene:3515 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch UMLS:C1414553 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch UMLS:C1840270 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch UMLS:C1970029 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch UMLS:C4016213 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:3616 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:FCGR2A semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch ncbigene:2212 semapv:UnspecifiedMatching +OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch MONDO:0007813 semapv:UnspecifiedMatching +OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching +OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching +OMIM:146830 immune deficiency, familial variable skos:exactMatch MONDO:0007814 semapv:UnspecifiedMatching +OMIM:146850 immune suppression skos:exactMatch MONDO:0007816 semapv:UnspecifiedMatching +OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:4942 semapv:UnspecifiedMatching +OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:HLA-DQA1 semapv:UnspecifiedMatching +OMIM:146880 HLA-DQA1 skos:exactMatch ncbigene:3117 semapv:UnspecifiedMatching +OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:5478 semapv:UnspecifiedMatching +OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:IGHA1 semapv:UnspecifiedMatching +OMIM:146900 IGHA1 skos:exactMatch ncbigene:3493 semapv:UnspecifiedMatching +OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching +OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching +OMIM:146910 IGHD@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching +OMIM:146920 ADAR skos:exactMatch hgnc.symbol:225 semapv:UnspecifiedMatching +OMIM:146920 ADAR skos:exactMatch hgnc.symbol:ADAR semapv:UnspecifiedMatching +OMIM:146920 ADAR skos:exactMatch ncbigene:103 semapv:UnspecifiedMatching +OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:6027 semapv:UnspecifiedMatching +OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:CXCR2 semapv:UnspecifiedMatching +OMIM:146928 CXCR2 skos:exactMatch ncbigene:3579 semapv:UnspecifiedMatching +OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:6026 semapv:UnspecifiedMatching +OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:CXCR1 semapv:UnspecifiedMatching +OMIM:146929 CXCR1 skos:exactMatch ncbigene:3577 semapv:UnspecifiedMatching +OMIM:146930 CXCL8 skos:exactMatch hgnc.symbol:6025 semapv:UnspecifiedMatching +OMIM:146930 CXCL8 skos:exactMatch hgnc.symbol:CXCL8 semapv:UnspecifiedMatching +OMIM:146930 CXCL8 skos:exactMatch ncbigene:3576 semapv:UnspecifiedMatching +OMIM:146931 IL9 skos:exactMatch UMLS:C1334127 semapv:UnspecifiedMatching +OMIM:146931 IL9 skos:exactMatch hgnc.symbol:6029 semapv:UnspecifiedMatching +OMIM:146931 IL9 skos:exactMatch hgnc.symbol:IL9 semapv:UnspecifiedMatching +OMIM:146931 IL9 skos:exactMatch ncbigene:3578 semapv:UnspecifiedMatching +OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:5964 semapv:UnspecifiedMatching +OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:IL10RA semapv:UnspecifiedMatching +OMIM:146933 IL10RA skos:exactMatch ncbigene:3587 semapv:UnspecifiedMatching +OMIM:146970 IGKJ@ skos:exactMatch ncbigene:7842 semapv:UnspecifiedMatching +OMIM:146980 IGKV@ skos:exactMatch ncbigene:3519 semapv:UnspecifiedMatching +OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:5479 semapv:UnspecifiedMatching +OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:IGHA2 semapv:UnspecifiedMatching +OMIM:147000 IGHA2 skos:exactMatch ncbigene:3494 semapv:UnspecifiedMatching +OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching +OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching +OMIM:147010 IGHJ@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching +OMIM:147020 IGHM skos:exactMatch hgnc.symbol:5541 semapv:UnspecifiedMatching +OMIM:147020 IGHM skos:exactMatch hgnc.symbol:IGHM semapv:UnspecifiedMatching +OMIM:147020 IGHM skos:exactMatch ncbigene:3507 semapv:UnspecifiedMatching +OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:5409 semapv:UnspecifiedMatching +OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:IFIT2 semapv:UnspecifiedMatching +OMIM:147040 IFIT2 skos:exactMatch ncbigene:3433 semapv:UnspecifiedMatching +OMIM:147045 FCAR skos:exactMatch hgnc.symbol:3608 semapv:UnspecifiedMatching +OMIM:147045 FCAR skos:exactMatch hgnc.symbol:FCAR semapv:UnspecifiedMatching +OMIM:147045 FCAR skos:exactMatch ncbigene:2204 semapv:UnspecifiedMatching +OMIM:147050 ige responsiveness, atopic skos:exactMatch MONDO:0007817 semapv:UnspecifiedMatching +OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch MONDO:0007818 semapv:UnspecifiedMatching +OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch Orphanet:2314 semapv:UnspecifiedMatching +OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C2936739 semapv:UnspecifiedMatching +OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C3887645 semapv:UnspecifiedMatching +OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching +OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching +OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching +OMIM:147070 IGHV@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching +OMIM:147100 IGHG1 skos:exactMatch UMLS:C1415978 semapv:UnspecifiedMatching +OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:5525 semapv:UnspecifiedMatching +OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:IGHG1 semapv:UnspecifiedMatching +OMIM:147100 IGHG1 skos:exactMatch ncbigene:3500 semapv:UnspecifiedMatching +OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:5526 semapv:UnspecifiedMatching +OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:IGHG2 semapv:UnspecifiedMatching +OMIM:147110 IGHG2 skos:exactMatch ncbigene:3501 semapv:UnspecifiedMatching +OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:5527 semapv:UnspecifiedMatching +OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:IGHG3 semapv:UnspecifiedMatching +OMIM:147120 IGHG3 skos:exactMatch ncbigene:3502 semapv:UnspecifiedMatching +OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:5528 semapv:UnspecifiedMatching +OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:IGHG4 semapv:UnspecifiedMatching +OMIM:147130 IGHG4 skos:exactMatch ncbigene:3503 semapv:UnspecifiedMatching +OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:7316 semapv:UnspecifiedMatching +OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:MS4A2 semapv:UnspecifiedMatching +OMIM:147138 MS4A2 skos:exactMatch ncbigene:2206 semapv:UnspecifiedMatching +OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:3611 semapv:UnspecifiedMatching +OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:FCER1G semapv:UnspecifiedMatching +OMIM:147139 FCER1G skos:exactMatch ncbigene:2207 semapv:UnspecifiedMatching +OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:3609 semapv:UnspecifiedMatching +OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:FCER1A semapv:UnspecifiedMatching +OMIM:147140 FCER1A skos:exactMatch ncbigene:2205 semapv:UnspecifiedMatching +OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:11633 semapv:UnspecifiedMatching +OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:TCF3 semapv:UnspecifiedMatching +OMIM:147141 TCF3 skos:exactMatch ncbigene:6929 semapv:UnspecifiedMatching +OMIM:147150 MX1 skos:exactMatch hgnc.symbol:7532 semapv:UnspecifiedMatching +OMIM:147150 MX1 skos:exactMatch hgnc.symbol:MX1 semapv:UnspecifiedMatching +OMIM:147150 MX1 skos:exactMatch ncbigene:4599 semapv:UnspecifiedMatching +OMIM:147170 IGHD skos:exactMatch hgnc.symbol:5480 semapv:UnspecifiedMatching +OMIM:147170 IGHD skos:exactMatch hgnc.symbol:IGHD semapv:UnspecifiedMatching +OMIM:147170 IGHD skos:exactMatch ncbigene:3495 semapv:UnspecifiedMatching +OMIM:147180 IGHE skos:exactMatch hgnc.symbol:5522 semapv:UnspecifiedMatching +OMIM:147180 IGHE skos:exactMatch hgnc.symbol:IGHE semapv:UnspecifiedMatching +OMIM:147180 IGHE skos:exactMatch ncbigene:3497 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch UMLS:C1416171 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch UMLS:C3553748 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:5724 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:RBPJ semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch ncbigene:3516 semapv:UnspecifiedMatching +OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:5767 semapv:UnspecifiedMatching +OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:IGKV1OR2-108 semapv:UnspecifiedMatching +OMIM:147185 IGKV1OR2108 skos:exactMatch ncbigene:28862 semapv:UnspecifiedMatching +OMIM:147200 IGKC skos:exactMatch hgnc.symbol:5716 semapv:UnspecifiedMatching +OMIM:147200 IGKC skos:exactMatch hgnc.symbol:IGKC semapv:UnspecifiedMatching +OMIM:147200 IGKC skos:exactMatch ncbigene:3514 semapv:UnspecifiedMatching +OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:5855 semapv:UnspecifiedMatching +OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:IGLC1 semapv:UnspecifiedMatching +OMIM:147220 IGLC1 skos:exactMatch ncbigene:3537 semapv:UnspecifiedMatching +OMIM:147230 IGLJ@ skos:exactMatch ncbigene:8217 semapv:UnspecifiedMatching +OMIM:147240 IGLV@ skos:exactMatch ncbigene:3546 semapv:UnspecifiedMatching +OMIM:147245 CD79B skos:exactMatch hgnc.symbol:1699 semapv:UnspecifiedMatching +OMIM:147245 CD79B skos:exactMatch hgnc.symbol:CD79B semapv:UnspecifiedMatching +OMIM:147245 CD79B skos:exactMatch ncbigene:974 semapv:UnspecifiedMatching +OMIM:147250 solitary median maxillary central incisor skos:exactMatch MONDO:0007819 semapv:UnspecifiedMatching +OMIM:147251 incisors, fused mandibular skos:exactMatch MONDO:0007820 semapv:UnspecifiedMatching +OMIM:147260 immunoglobulin switch sequences skos:exactMatch MONDO:0007821 semapv:UnspecifiedMatching +OMIM:147263 INPP1 skos:exactMatch hgnc.symbol:6071 semapv:UnspecifiedMatching +OMIM:147263 INPP1 skos:exactMatch hgnc.symbol:INPP1 semapv:UnspecifiedMatching +OMIM:147263 INPP1 skos:exactMatch ncbigene:3628 semapv:UnspecifiedMatching +OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:6077 semapv:UnspecifiedMatching +OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:INPP5B semapv:UnspecifiedMatching +OMIM:147264 INPP5B skos:exactMatch ncbigene:3633 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch UMLS:C0431401 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch UMLS:C1334148 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:6180 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:ITPR1 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch ncbigene:3708 semapv:UnspecifiedMatching +OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:6182 semapv:UnspecifiedMatching +OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:ITPR3 semapv:UnspecifiedMatching +OMIM:147267 ITPR3 skos:exactMatch ncbigene:3710 semapv:UnspecifiedMatching +OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:6166 semapv:UnspecifiedMatching +OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:ITIH1 semapv:UnspecifiedMatching +OMIM:147270 ITIH1 skos:exactMatch ncbigene:3697 semapv:UnspecifiedMatching +OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:5467 semapv:UnspecifiedMatching +OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:IGF2R semapv:UnspecifiedMatching +OMIM:147280 IGF2R skos:exactMatch ncbigene:3482 semapv:UnspecifiedMatching +OMIM:147290 INHBA skos:exactMatch hgnc.symbol:6066 semapv:UnspecifiedMatching +OMIM:147290 INHBA skos:exactMatch hgnc.symbol:INHBA semapv:UnspecifiedMatching +OMIM:147290 INHBA skos:exactMatch ncbigene:3624 semapv:UnspecifiedMatching +OMIM:147300 incisors, long upper central skos:exactMatch MONDO:0007822 semapv:UnspecifiedMatching +OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:10637 semapv:UnspecifiedMatching +OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:CXCL10 semapv:UnspecifiedMatching +OMIM:147310 CXCL10 skos:exactMatch ncbigene:3627 semapv:UnspecifiedMatching +OMIM:147320 insulin receptors, familial increase 1n skos:exactMatch MONDO:0007823 semapv:UnspecifiedMatching +OMIM:147330 incisors, lower central, absence of skos:exactMatch MONDO:0007824 semapv:UnspecifiedMatching +OMIM:147350 incisors, rotation of upper central skos:exactMatch MONDO:0007825 semapv:UnspecifiedMatching +OMIM:147360 IVL skos:exactMatch hgnc.symbol:6187 semapv:UnspecifiedMatching +OMIM:147360 IVL skos:exactMatch hgnc.symbol:IVL semapv:UnspecifiedMatching +OMIM:147360 IVL skos:exactMatch ncbigene:3713 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch UMLS:C1334088 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch UMLS:C1849157 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:5465 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:IGF1R semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch ncbigene:3480 semapv:UnspecifiedMatching +OMIM:147380 INHA skos:exactMatch hgnc.symbol:6065 semapv:UnspecifiedMatching +OMIM:147380 INHA skos:exactMatch hgnc.symbol:INHA semapv:UnspecifiedMatching +OMIM:147380 INHA skos:exactMatch ncbigene:3623 semapv:UnspecifiedMatching +OMIM:147390 INHBB skos:exactMatch hgnc.symbol:6067 semapv:UnspecifiedMatching +OMIM:147390 INHBB skos:exactMatch hgnc.symbol:INHBB semapv:UnspecifiedMatching +OMIM:147390 INHBB skos:exactMatch ncbigene:3625 semapv:UnspecifiedMatching +OMIM:147400 incisors, shovel-shaped skos:exactMatch MONDO:0007826 semapv:UnspecifiedMatching +OMIM:147421 inclusion body myositis skos:exactMatch MONDO:0007827 semapv:UnspecifiedMatching +OMIM:147430 marsili syndrome skos:exactMatch MONDO:0007828 semapv:UnspecifiedMatching +OMIM:147430 marsili syndrome skos:exactMatch UMLS:C1840219 semapv:UnspecifiedMatching +OMIM:147430 marsili syndrome skos:exactMatch UMLS:C4538468 semapv:UnspecifiedMatching +OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:6059 semapv:UnspecifiedMatching +OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:IDO1 semapv:UnspecifiedMatching +OMIM:147435 IDO1 skos:exactMatch ncbigene:3620 semapv:UnspecifiedMatching +OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:5464 semapv:UnspecifiedMatching +OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:IGF1 semapv:UnspecifiedMatching +OMIM:147440 IGF1 skos:exactMatch ncbigene:3479 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch UMLS:C1420306 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch UMLS:C3542025 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch UMLS:C5231422 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:11179 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:SOD1 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch ncbigene:6647 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C1420307 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C2675128 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch UMLS:C4016223 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:11180 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:SOD2 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch ncbigene:6648 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch UMLS:C1334091 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch UMLS:C4016224 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:5466 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:IGF2 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch ncbigene:3481 semapv:UnspecifiedMatching +OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch MONDO:0007829 semapv:UnspecifiedMatching +OMIM:147485 IPP skos:exactMatch hgnc.symbol:6108 semapv:UnspecifiedMatching +OMIM:147485 IPP skos:exactMatch hgnc.symbol:IPP semapv:UnspecifiedMatching +OMIM:147485 IPP skos:exactMatch ncbigene:3652 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch UMLS:C0342800 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch UMLS:C1416514 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch hgnc.symbol:6176 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch hgnc.symbol:ITPA semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch ncbigene:3704 semapv:UnspecifiedMatching +OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:6178 semapv:UnspecifiedMatching +OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:ITPKA semapv:UnspecifiedMatching +OMIM:147521 ITPKA skos:exactMatch ncbigene:3706 semapv:UnspecifiedMatching +OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:6179 semapv:UnspecifiedMatching +OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:ITPKB semapv:UnspecifiedMatching +OMIM:147522 ITPKB skos:exactMatch ncbigene:3707 semapv:UnspecifiedMatching +OMIM:147530 insensitivity to pain with hyperplastic myelinopathy skos:exactMatch MONDO:0007830 semapv:UnspecifiedMatching +OMIM:147540 insect stings, hypersensitivity to skos:exactMatch MONDO:0007831 semapv:UnspecifiedMatching +OMIM:147545 IRS1 skos:exactMatch hgnc.symbol:6125 semapv:UnspecifiedMatching +OMIM:147545 IRS1 skos:exactMatch hgnc.symbol:IRS1 semapv:UnspecifiedMatching +OMIM:147545 IRS1 skos:exactMatch ncbigene:3667 semapv:UnspecifiedMatching +OMIM:147553 IFNW1 skos:exactMatch hgnc.symbol:5448 semapv:UnspecifiedMatching +OMIM:147553 IFNW1 skos:exactMatch hgnc.symbol:IFNW1 semapv:UnspecifiedMatching +OMIM:147553 IFNW1 skos:exactMatch ncbigene:3467 semapv:UnspecifiedMatching +OMIM:147556 ITGA6 skos:exactMatch hgnc.symbol:6142 semapv:UnspecifiedMatching +OMIM:147556 ITGA6 skos:exactMatch hgnc.symbol:ITGA6 semapv:UnspecifiedMatching +OMIM:147556 ITGA6 skos:exactMatch ncbigene:3655 semapv:UnspecifiedMatching +OMIM:147557 ITGB4 skos:exactMatch hgnc.symbol:6158 semapv:UnspecifiedMatching +OMIM:147557 ITGB4 skos:exactMatch hgnc.symbol:ITGB4 semapv:UnspecifiedMatching +OMIM:147557 ITGB4 skos:exactMatch ncbigene:3691 semapv:UnspecifiedMatching +OMIM:147558 ITGB6 skos:exactMatch hgnc.symbol:6161 semapv:UnspecifiedMatching +OMIM:147558 ITGB6 skos:exactMatch hgnc.symbol:ITGB6 semapv:UnspecifiedMatching +OMIM:147558 ITGB6 skos:exactMatch ncbigene:3694 semapv:UnspecifiedMatching +OMIM:147559 ITGB7 skos:exactMatch hgnc.symbol:6162 semapv:UnspecifiedMatching +OMIM:147559 ITGB7 skos:exactMatch hgnc.symbol:ITGB7 semapv:UnspecifiedMatching +OMIM:147559 ITGB7 skos:exactMatch ncbigene:3695 semapv:UnspecifiedMatching +OMIM:147560 interferon antiviral depressor skos:exactMatch MONDO:0007832 semapv:UnspecifiedMatching +OMIM:147561 ITGB5 skos:exactMatch hgnc.symbol:6160 semapv:UnspecifiedMatching +OMIM:147561 ITGB5 skos:exactMatch hgnc.symbol:ITGB5 semapv:UnspecifiedMatching +OMIM:147561 ITGB5 skos:exactMatch ncbigene:3693 semapv:UnspecifiedMatching +OMIM:147562 IFNA2 skos:exactMatch hgnc.symbol:5423 semapv:UnspecifiedMatching +OMIM:147562 IFNA2 skos:exactMatch hgnc.symbol:IFNA2 semapv:UnspecifiedMatching +OMIM:147562 IFNA2 skos:exactMatch ncbigene:3440 semapv:UnspecifiedMatching +OMIM:147563 IBSP skos:exactMatch hgnc.symbol:5341 semapv:UnspecifiedMatching +OMIM:147563 IBSP skos:exactMatch hgnc.symbol:IBSP semapv:UnspecifiedMatching +OMIM:147563 IBSP skos:exactMatch ncbigene:3381 semapv:UnspecifiedMatching +OMIM:147564 IFNA4 skos:exactMatch hgnc.symbol:5425 semapv:UnspecifiedMatching +OMIM:147564 IFNA4 skos:exactMatch hgnc.symbol:IFNA4 semapv:UnspecifiedMatching +OMIM:147564 IFNA4 skos:exactMatch ncbigene:3441 semapv:UnspecifiedMatching +OMIM:147565 IFNA5 skos:exactMatch hgnc.symbol:5426 semapv:UnspecifiedMatching +OMIM:147565 IFNA5 skos:exactMatch hgnc.symbol:IFNA5 semapv:UnspecifiedMatching +OMIM:147565 IFNA5 skos:exactMatch ncbigene:3442 semapv:UnspecifiedMatching +OMIM:147566 IFNA6 skos:exactMatch hgnc.symbol:5427 semapv:UnspecifiedMatching +OMIM:147566 IFNA6 skos:exactMatch hgnc.symbol:IFNA6 semapv:UnspecifiedMatching +OMIM:147566 IFNA6 skos:exactMatch ncbigene:3443 semapv:UnspecifiedMatching +OMIM:147567 IFNA7 skos:exactMatch hgnc.symbol:5428 semapv:UnspecifiedMatching +OMIM:147567 IFNA7 skos:exactMatch hgnc.symbol:IFNA7 semapv:UnspecifiedMatching +OMIM:147567 IFNA7 skos:exactMatch ncbigene:3444 semapv:UnspecifiedMatching +OMIM:147568 IFNA8 skos:exactMatch hgnc.symbol:5429 semapv:UnspecifiedMatching +OMIM:147568 IFNA8 skos:exactMatch hgnc.symbol:IFNA8 semapv:UnspecifiedMatching +OMIM:147568 IFNA8 skos:exactMatch ncbigene:3445 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch UMLS:C1334084 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:5440 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:IFNGR2 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch ncbigene:3460 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C1334085 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C2684859 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C2750389 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C2750460 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C4016227 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch hgnc.symbol:5438 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch hgnc.symbol:IFNG semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch ncbigene:3458 semapv:UnspecifiedMatching +OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:4053 semapv:UnspecifiedMatching +OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:ISG15 semapv:UnspecifiedMatching +OMIM:147571 ISG15 skos:exactMatch ncbigene:9636 semapv:UnspecifiedMatching +OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:4054 semapv:UnspecifiedMatching +OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:IFI6 semapv:UnspecifiedMatching +OMIM:147572 IFI6 skos:exactMatch ncbigene:2537 semapv:UnspecifiedMatching +OMIM:147573 IFNR skos:exactMatch hgnc.symbol:5447 semapv:UnspecifiedMatching +OMIM:147573 IFNR skos:exactMatch hgnc.symbol:IFNR semapv:UnspecifiedMatching +OMIM:147573 IFNR skos:exactMatch ncbigene:3466 semapv:UnspecifiedMatching +OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:6131 semapv:UnspecifiedMatching +OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:IRF9 semapv:UnspecifiedMatching +OMIM:147574 IRF9 skos:exactMatch ncbigene:10379 semapv:UnspecifiedMatching +OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:6116 semapv:UnspecifiedMatching +OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:IRF1 semapv:UnspecifiedMatching +OMIM:147575 IRF1 skos:exactMatch ncbigene:3659 semapv:UnspecifiedMatching +OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:6117 semapv:UnspecifiedMatching +OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:IRF2 semapv:UnspecifiedMatching +OMIM:147576 IRF2 skos:exactMatch ncbigene:3660 semapv:UnspecifiedMatching +OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:5418 semapv:UnspecifiedMatching +OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:IFNA10 semapv:UnspecifiedMatching +OMIM:147577 IFNA10 skos:exactMatch ncbigene:3446 semapv:UnspecifiedMatching +OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:5419 semapv:UnspecifiedMatching +OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:IFNA13 semapv:UnspecifiedMatching +OMIM:147578 IFNA13 skos:exactMatch ncbigene:3447 semapv:UnspecifiedMatching +OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:5420 semapv:UnspecifiedMatching +OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:IFNA14 semapv:UnspecifiedMatching +OMIM:147579 IFNA14 skos:exactMatch ncbigene:3448 semapv:UnspecifiedMatching +OMIM:147580 IFNA16 skos:exactMatch hgnc.symbol:5421 semapv:UnspecifiedMatching +OMIM:147580 IFNA16 skos:exactMatch hgnc.symbol:IFNA16 semapv:UnspecifiedMatching +OMIM:147580 IFNA16 skos:exactMatch ncbigene:3449 semapv:UnspecifiedMatching +OMIM:147582 IREB2 skos:exactMatch hgnc.symbol:6115 semapv:UnspecifiedMatching +OMIM:147582 IREB2 skos:exactMatch hgnc.symbol:IREB2 semapv:UnspecifiedMatching +OMIM:147582 IREB2 skos:exactMatch ncbigene:3658 semapv:UnspecifiedMatching +OMIM:147583 IFNA17 skos:exactMatch hgnc.symbol:5422 semapv:UnspecifiedMatching +OMIM:147583 IFNA17 skos:exactMatch hgnc.symbol:IFNA17 semapv:UnspecifiedMatching +OMIM:147583 IFNA17 skos:exactMatch ncbigene:3451 semapv:UnspecifiedMatching +OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:5424 semapv:UnspecifiedMatching +OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:IFNA21 semapv:UnspecifiedMatching +OMIM:147584 IFNA21 skos:exactMatch ncbigene:3452 semapv:UnspecifiedMatching +OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:5395 semapv:UnspecifiedMatching +OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:IFI16 semapv:UnspecifiedMatching +OMIM:147586 IFI16 skos:exactMatch ncbigene:3428 semapv:UnspecifiedMatching +OMIM:147610 iris pigment layer, cleavage of skos:exactMatch MONDO:0007833 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C1334122 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C1840138 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C2675113 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C3538945 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C3837968 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C4016228 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch UMLS:C4016229 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch hgnc.symbol:6018 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch hgnc.symbol:IL6 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch ncbigene:3569 semapv:UnspecifiedMatching +OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:5343 semapv:UnspecifiedMatching +OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:ICA1 semapv:UnspecifiedMatching +OMIM:147625 ICA1 skos:exactMatch ncbigene:3382 semapv:UnspecifiedMatching +OMIM:147630 insulinomatosis and diabetes mellitus skos:exactMatch MONDO:0007834 semapv:UnspecifiedMatching +OMIM:147630 insulinomatosis and diabetes mellitus skos:exactMatch UMLS:C1578917 semapv:UnspecifiedMatching +OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:5434 semapv:UnspecifiedMatching +OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:IFNB1 semapv:UnspecifiedMatching +OMIM:147640 IFNB1 skos:exactMatch ncbigene:3456 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch UMLS:C1415877 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch UMLS:C3150909 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:5383 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:IDH2 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch ncbigene:3418 semapv:UnspecifiedMatching +OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:5417 semapv:UnspecifiedMatching +OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:IFNA1 semapv:UnspecifiedMatching +OMIM:147660 IFNA1 skos:exactMatch ncbigene:3439 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0021655 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0265344 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0271695 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0342278 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C0854110 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C1334133 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C1864952 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch hgnc.symbol:6091 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch hgnc.symbol:INSR semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch ncbigene:3643 semapv:UnspecifiedMatching +OMIM:147671 INSRR skos:exactMatch hgnc.symbol:6093 semapv:UnspecifiedMatching +OMIM:147671 INSRR skos:exactMatch hgnc.symbol:INSRR semapv:UnspecifiedMatching +OMIM:147671 INSRR skos:exactMatch ncbigene:3645 semapv:UnspecifiedMatching +OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:1499 semapv:UnspecifiedMatching +OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:CASP1 semapv:UnspecifiedMatching +OMIM:147678 CASP1 skos:exactMatch ncbigene:834 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch UMLS:C1416402 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch UMLS:C2675112 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch UMLS:C2748507 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch UMLS:C4016230 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:6000 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:IL1RN semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch ncbigene:3557 semapv:UnspecifiedMatching +OMIM:147680 IL2 skos:exactMatch hgnc.symbol:6001 semapv:UnspecifiedMatching +OMIM:147680 IL2 skos:exactMatch hgnc.symbol:IL2 semapv:UnspecifiedMatching +OMIM:147680 IL2 skos:exactMatch ncbigene:3558 semapv:UnspecifiedMatching +OMIM:147681 IL11 skos:exactMatch hgnc.symbol:5966 semapv:UnspecifiedMatching +OMIM:147681 IL11 skos:exactMatch hgnc.symbol:IL11 semapv:UnspecifiedMatching +OMIM:147681 IL11 skos:exactMatch ncbigene:3589 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch UMLS:C1334103 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch UMLS:C1869116 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch UMLS:C4017540 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch hgnc.symbol:5973 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch hgnc.symbol:IL13 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch ncbigene:3596 semapv:UnspecifiedMatching +OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:6036 semapv:UnspecifiedMatching +OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:FOXK2 semapv:UnspecifiedMatching +OMIM:147685 FOXK2 skos:exactMatch ncbigene:3607 semapv:UnspecifiedMatching +OMIM:147690 IFIT1 skos:exactMatch hgnc.symbol:5407 semapv:UnspecifiedMatching +OMIM:147690 IFIT1 skos:exactMatch hgnc.symbol:IFIT1 semapv:UnspecifiedMatching +OMIM:147690 IFIT1 skos:exactMatch ncbigene:3434 semapv:UnspecifiedMatching +OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:5382 semapv:UnspecifiedMatching +OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:IDH1 semapv:UnspecifiedMatching +OMIM:147700 IDH1 skos:exactMatch ncbigene:3417 semapv:UnspecifiedMatching +OMIM:147710 intussusception skos:exactMatch MONDO:0007835 semapv:UnspecifiedMatching +OMIM:147720 IL1B skos:exactMatch hgnc.symbol:5992 semapv:UnspecifiedMatching +OMIM:147720 IL1B skos:exactMatch hgnc.symbol:IL1B semapv:UnspecifiedMatching +OMIM:147720 IL1B skos:exactMatch ncbigene:3553 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch UMLS:C1334114 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch UMLS:C1853392 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch UMLS:C5436940 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:6008 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:IL2RA semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch ncbigene:3559 semapv:UnspecifiedMatching +OMIM:147740 IL3 skos:exactMatch hgnc.symbol:6011 semapv:UnspecifiedMatching +OMIM:147740 IL3 skos:exactMatch hgnc.symbol:IL3 semapv:UnspecifiedMatching +OMIM:147740 IL3 skos:exactMatch ncbigene:3562 semapv:UnspecifiedMatching +OMIM:147750 ivic syndrome skos:exactMatch MONDO:0007836 semapv:UnspecifiedMatching +OMIM:147750 ivic syndrome skos:exactMatch Orphanet:2307 semapv:UnspecifiedMatching +OMIM:147750 ivic syndrome skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching +OMIM:147760 IL1A skos:exactMatch hgnc.symbol:5991 semapv:UnspecifiedMatching +OMIM:147760 IL1A skos:exactMatch hgnc.symbol:IL1A semapv:UnspecifiedMatching +OMIM:147760 IL1A skos:exactMatch ncbigene:3552 semapv:UnspecifiedMatching +OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch MONDO:0007837 semapv:UnspecifiedMatching +OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 semapv:UnspecifiedMatching +OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch UMLS:C0796002 semapv:UnspecifiedMatching +OMIM:147780 IL4 skos:exactMatch UMLS:C1334119 semapv:UnspecifiedMatching +OMIM:147780 IL4 skos:exactMatch hgnc.symbol:6014 semapv:UnspecifiedMatching +OMIM:147780 IL4 skos:exactMatch hgnc.symbol:IL4 semapv:UnspecifiedMatching +OMIM:147780 IL4 skos:exactMatch ncbigene:3565 semapv:UnspecifiedMatching +OMIM:147781 IL4R skos:exactMatch hgnc.symbol:6015 semapv:UnspecifiedMatching +OMIM:147781 IL4R skos:exactMatch hgnc.symbol:IL4R semapv:UnspecifiedMatching +OMIM:147781 IL4R skos:exactMatch ncbigene:3566 semapv:UnspecifiedMatching +OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:5713 semapv:UnspecifiedMatching +OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:JCHAIN semapv:UnspecifiedMatching +OMIM:147790 JCHAIN skos:exactMatch ncbigene:3512 semapv:UnspecifiedMatching +OMIM:147791 jacobsen syndrome skos:exactMatch MONDO:0007838 semapv:UnspecifiedMatching +OMIM:147791 jacobsen syndrome skos:exactMatch Orphanet:2308 semapv:UnspecifiedMatching +OMIM:147791 jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch UMLS:C1334290 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:6190 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:JAK1 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch ncbigene:3716 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C1334291 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C2675105 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C3276959 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C3281125 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C4016233 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch UMLS:C4016234 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:6192 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:JAK2 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch ncbigene:3717 semapv:UnspecifiedMatching +OMIM:147800 aase-smith syndrome 1 skos:exactMatch MONDO:0007839 semapv:UnspecifiedMatching +OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:5993 semapv:UnspecifiedMatching +OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:IL1R1 semapv:UnspecifiedMatching +OMIM:147810 IL1R1 skos:exactMatch ncbigene:3554 semapv:UnspecifiedMatching +OMIM:147811 IL1R2 skos:exactMatch UMLS:C1416396 semapv:UnspecifiedMatching +OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:5994 semapv:UnspecifiedMatching +OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:IL1R2 semapv:UnspecifiedMatching +OMIM:147811 IL1R2 skos:exactMatch ncbigene:7850 semapv:UnspecifiedMatching +OMIM:147820 internal carotid artery, spontaneous dissection of skos:exactMatch MONDO:0007840 semapv:UnspecifiedMatching +OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:5344 semapv:UnspecifiedMatching +OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:ICAM1 semapv:UnspecifiedMatching +OMIM:147840 ICAM1 skos:exactMatch ncbigene:3383 semapv:UnspecifiedMatching +OMIM:147850 IL5 skos:exactMatch hgnc.symbol:6016 semapv:UnspecifiedMatching +OMIM:147850 IL5 skos:exactMatch hgnc.symbol:IL5 semapv:UnspecifiedMatching +OMIM:147850 IL5 skos:exactMatch ncbigene:3567 semapv:UnspecifiedMatching +OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:6017 semapv:UnspecifiedMatching +OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:IL5RA semapv:UnspecifiedMatching +OMIM:147851 IL5RA skos:exactMatch ncbigene:3568 semapv:UnspecifiedMatching +OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:12780 semapv:UnspecifiedMatching +OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:WNT2 semapv:UnspecifiedMatching +OMIM:147870 WNT2 skos:exactMatch ncbigene:7472 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch UMLS:C1416409 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch UMLS:C3540094 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch UMLS:C3553493 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch hgnc.symbol:6019 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch hgnc.symbol:IL6R semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch ncbigene:3570 semapv:UnspecifiedMatching +OMIM:147890 MX2 skos:exactMatch hgnc.symbol:7533 semapv:UnspecifiedMatching +OMIM:147890 MX2 skos:exactMatch hgnc.symbol:MX2 semapv:UnspecifiedMatching +OMIM:147890 MX2 skos:exactMatch ncbigene:4600 semapv:UnspecifiedMatching +OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch MONDO:0007841 semapv:UnspecifiedMatching +OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch Orphanet:1509 semapv:UnspecifiedMatching +OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching +OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch UMLS:C1868581 semapv:UnspecifiedMatching +OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:2883 semapv:UnspecifiedMatching +OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:DIO1 semapv:UnspecifiedMatching +OMIM:147892 DIO1 skos:exactMatch ncbigene:1733 semapv:UnspecifiedMatching +OMIM:147900 joint laxity, familial skos:exactMatch MONDO:0007842 semapv:UnspecifiedMatching +OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:6357 semapv:UnspecifiedMatching +OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:KLK1 semapv:UnspecifiedMatching +OMIM:147910 KLK1 skos:exactMatch ncbigene:3816 semapv:UnspecifiedMatching +OMIM:147920 kabuki syndrome 1 skos:exactMatch MONDO:0007843 semapv:UnspecifiedMatching +OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:8948 semapv:UnspecifiedMatching +OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:SERPINA4 semapv:UnspecifiedMatching +OMIM:147935 SERPINA4 skos:exactMatch ncbigene:5267 semapv:UnspecifiedMatching +OMIM:147940 IAPP skos:exactMatch hgnc.symbol:5329 semapv:UnspecifiedMatching +OMIM:147940 IAPP skos:exactMatch hgnc.symbol:IAPP semapv:UnspecifiedMatching +OMIM:147940 IAPP skos:exactMatch ncbigene:3375 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch MONDO:0007844 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:432 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching +OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:6363 semapv:UnspecifiedMatching +OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:KLK2 semapv:UnspecifiedMatching +OMIM:147960 KLK2 skos:exactMatch ncbigene:3817 semapv:UnspecifiedMatching +OMIM:148000 kaposi sarcoma, susceptibility to skos:exactMatch MONDO:0007845 semapv:UnspecifiedMatching +OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:6436 semapv:UnspecifiedMatching +OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:KRT19 semapv:UnspecifiedMatching +OMIM:148020 KRT19 skos:exactMatch ncbigene:3880 semapv:UnspecifiedMatching +OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:23604 semapv:UnspecifiedMatching +OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:KRTAP5-9 semapv:UnspecifiedMatching +OMIM:148021 KRTAP5-9 skos:exactMatch ncbigene:3846 semapv:UnspecifiedMatching +OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:23596 semapv:UnspecifiedMatching +OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:KRTAP5-1 semapv:UnspecifiedMatching +OMIM:148022 KRTAP5-1 skos:exactMatch ncbigene:387264 semapv:UnspecifiedMatching +OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:6421 semapv:UnspecifiedMatching +OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:KRT15 semapv:UnspecifiedMatching +OMIM:148030 KRT15 skos:exactMatch ncbigene:3866 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C0079295 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C0079299 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C0080333 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C0432316 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C1416742 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C1836284 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C3715082 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C4016235 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C4016236 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch UMLS:C4552092 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:6442 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:KRT5 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch ncbigene:3852 semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch UMLS:C1416743 semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:6443 semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:KRT6A semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch ncbigene:3853 semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch UMLS:C1416744 semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:6444 semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:KRT6B semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch ncbigene:3854 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch UMLS:C1416740 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:6440 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:KRT3 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch ncbigene:3850 semapv:UnspecifiedMatching +OMIM:148050 kbg syndrome skos:exactMatch MONDO:0007846 semapv:UnspecifiedMatching +OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:6445 semapv:UnspecifiedMatching +OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:KRT7 semapv:UnspecifiedMatching +OMIM:148059 KRT7 skos:exactMatch ncbigene:3855 semapv:UnspecifiedMatching +OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:6446 semapv:UnspecifiedMatching +OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:KRT8 semapv:UnspecifiedMatching +OMIM:148060 KRT8 skos:exactMatch ncbigene:3856 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch UMLS:C1416716 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:6415 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:KRT13 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch ncbigene:3860 semapv:UnspecifiedMatching +OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:6416 semapv:UnspecifiedMatching +OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:KRT14 semapv:UnspecifiedMatching +OMIM:148066 KRT14 skos:exactMatch ncbigene:3861 semapv:UnspecifiedMatching +OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:6423 semapv:UnspecifiedMatching +OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:KRT16 semapv:UnspecifiedMatching +OMIM:148067 KRT16 skos:exactMatch ncbigene:3868 semapv:UnspecifiedMatching +OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:6427 semapv:UnspecifiedMatching +OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:KRT17 semapv:UnspecifiedMatching +OMIM:148069 KRT17 skos:exactMatch ncbigene:3872 semapv:UnspecifiedMatching +OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:6430 semapv:UnspecifiedMatching +OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:KRT18 semapv:UnspecifiedMatching +OMIM:148070 KRT18 skos:exactMatch ncbigene:3875 semapv:UnspecifiedMatching +OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:6413 semapv:UnspecifiedMatching +OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:KRT10 semapv:UnspecifiedMatching +OMIM:148080 KRT10 skos:exactMatch ncbigene:3858 semapv:UnspecifiedMatching +OMIM:148100 keloid formation skos:exactMatch MONDO:0007847 semapv:UnspecifiedMatching +OMIM:148180 FGF7 skos:exactMatch UMLS:C0919507 semapv:UnspecifiedMatching +OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:3685 semapv:UnspecifiedMatching +OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:FGF7 semapv:UnspecifiedMatching +OMIM:148180 FGF7 skos:exactMatch ncbigene:2252 semapv:UnspecifiedMatching +OMIM:148190 keratitis, hereditary skos:exactMatch MONDO:0007848 semapv:UnspecifiedMatching +OMIM:148200 keratoendotheliitis fugax hereditaria skos:exactMatch MONDO:0007849 semapv:UnspecifiedMatching +OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch MONDO:0007850 semapv:UnspecifiedMatching +OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching +OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching +OMIM:148300 keratoconus 1 skos:exactMatch MONDO:0007851 semapv:UnspecifiedMatching +OMIM:148350 keratoderma, palmoplantar, with deafness skos:exactMatch MONDO:0007852 semapv:UnspecifiedMatching +OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy skos:exactMatch MONDO:0007853 semapv:UnspecifiedMatching +OMIM:148370 keratolytic winter erythema skos:exactMatch MONDO:0007854 semapv:UnspecifiedMatching +OMIM:148390 keratosis, familial actinic skos:exactMatch MONDO:0007855 semapv:UnspecifiedMatching +OMIM:148500 tylosis with esophageal cancer skos:exactMatch MONDO:0007856 semapv:UnspecifiedMatching +OMIM:148520 keratosis palmaris et plantaris with clinodactyly skos:exactMatch MONDO:0007857 semapv:UnspecifiedMatching +OMIM:148600 palmoplantar keratoderma, punctate iia 1a skos:exactMatch MONDO:0007858 semapv:UnspecifiedMatching +OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch MONDO:0007859 semapv:UnspecifiedMatching +OMIM:148730 keratosis, focal palmoplantar and gingival skos:exactMatch MONDO:0007860 semapv:UnspecifiedMatching +OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:6388 semapv:UnspecifiedMatching +OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:KIF11 semapv:UnspecifiedMatching +OMIM:148760 KIF11 skos:exactMatch ncbigene:3832 semapv:UnspecifiedMatching +OMIM:148800 kleeblattschaedel skos:exactMatch MONDO:0007861 semapv:UnspecifiedMatching +OMIM:148820 waardenburg syndrome, iia 3 skos:exactMatch MONDO:0007862 semapv:UnspecifiedMatching +OMIM:148840 kleine-levin hibernation syndrome skos:exactMatch MONDO:0007863 semapv:UnspecifiedMatching +OMIM:149000 klippel-trenaunay-weber syndrome skos:exactMatch MONDO:0007864 semapv:UnspecifiedMatching +OMIM:149100 knuckle pads skos:exactMatch MONDO:0007865 semapv:UnspecifiedMatching +OMIM:149100 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching +OMIM:149200 bart-pumphrey syndrome skos:exactMatch MONDO:0007866 semapv:UnspecifiedMatching +OMIM:149200 bart-pumphrey syndrome skos:exactMatch Orphanet:2698 semapv:UnspecifiedMatching +OMIM:149200 bart-pumphrey syndrome skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching +OMIM:149300 nail disorder, nonsyndromic congenital, 2 skos:exactMatch MONDO:0007867 semapv:UnspecifiedMatching +OMIM:149400 hyperekplexia 1 skos:exactMatch MONDO:0007868 semapv:UnspecifiedMatching +OMIM:149400 hyperekplexia 1 skos:exactMatch Orphanet:3197 semapv:UnspecifiedMatching +OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C1835614 semapv:UnspecifiedMatching +OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C4551954 semapv:UnspecifiedMatching +OMIM:149500 kyrle disease skos:exactMatch MONDO:0007869 semapv:UnspecifiedMatching +OMIM:149600 labia minora, incomplete adhesion of skos:exactMatch MONDO:0007870 semapv:UnspecifiedMatching +OMIM:149700 lacrimal duct defect skos:exactMatch MONDO:0007871 semapv:UnspecifiedMatching +OMIM:149730 lacrimoauriculodentodigital syndrome 1 skos:exactMatch MONDO:0100302 semapv:UnspecifiedMatching +OMIM:149750 LALBA skos:exactMatch hgnc.symbol:6480 semapv:UnspecifiedMatching +OMIM:149750 LALBA skos:exactMatch hgnc.symbol:LALBA semapv:UnspecifiedMatching +OMIM:149750 LALBA skos:exactMatch ncbigene:3906 semapv:UnspecifiedMatching +OMIM:150000 LDHA skos:exactMatch hgnc.symbol:6535 semapv:UnspecifiedMatching +OMIM:150000 LDHA skos:exactMatch hgnc.symbol:LDHA semapv:UnspecifiedMatching +OMIM:150000 LDHA skos:exactMatch ncbigene:3939 semapv:UnspecifiedMatching +OMIM:150100 LDHB skos:exactMatch hgnc.symbol:6541 semapv:UnspecifiedMatching +OMIM:150100 LDHB skos:exactMatch hgnc.symbol:LDHB semapv:UnspecifiedMatching +OMIM:150100 LDHB skos:exactMatch ncbigene:3945 semapv:UnspecifiedMatching +OMIM:150150 LDHC skos:exactMatch hgnc.symbol:6544 semapv:UnspecifiedMatching +OMIM:150150 LDHC skos:exactMatch hgnc.symbol:LDHC semapv:UnspecifiedMatching +OMIM:150150 LDHC skos:exactMatch ncbigene:3948 semapv:UnspecifiedMatching +OMIM:150170 lactic acidosis, chronic adult form skos:exactMatch MONDO:0007873 semapv:UnspecifiedMatching +OMIM:150200 CSH1 skos:exactMatch UMLS:C1413752 semapv:UnspecifiedMatching +OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:2440 semapv:UnspecifiedMatching +OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:CSH1 semapv:UnspecifiedMatching +OMIM:150200 CSH1 skos:exactMatch ncbigene:1442 semapv:UnspecifiedMatching +OMIM:150205 LPO skos:exactMatch hgnc.symbol:6678 semapv:UnspecifiedMatching +OMIM:150205 LPO skos:exactMatch hgnc.symbol:LPO semapv:UnspecifiedMatching +OMIM:150205 LPO skos:exactMatch ncbigene:4025 semapv:UnspecifiedMatching +OMIM:150210 LTF skos:exactMatch hgnc.symbol:6720 semapv:UnspecifiedMatching +OMIM:150210 LTF skos:exactMatch hgnc.symbol:LTF semapv:UnspecifiedMatching +OMIM:150210 LTF skos:exactMatch ncbigene:4057 semapv:UnspecifiedMatching +OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch MONDO:0007874 semapv:UnspecifiedMatching +OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch Orphanet:502 semapv:UnspecifiedMatching +OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch UMLS:C0023003 semapv:UnspecifiedMatching +OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:6486 semapv:UnspecifiedMatching +OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:LAMB1 semapv:UnspecifiedMatching +OMIM:150240 LAMB1 skos:exactMatch ncbigene:3912 semapv:UnspecifiedMatching +OMIM:150250 larsen syndrome skos:exactMatch MONDO:0007875 semapv:UnspecifiedMatching +OMIM:150260 laryngeal abductor paralysis skos:exactMatch MONDO:0007876 semapv:UnspecifiedMatching +OMIM:150270 laryngeal adductor paralysis skos:exactMatch MONDO:0007877 semapv:UnspecifiedMatching +OMIM:150280 laryngomalacia skos:exactMatch MONDO:0007878 semapv:UnspecifiedMatching +OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:6492 semapv:UnspecifiedMatching +OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:LAMC1 semapv:UnspecifiedMatching +OMIM:150290 LAMC1 skos:exactMatch ncbigene:3915 semapv:UnspecifiedMatching +OMIM:150292 LAMC2 skos:exactMatch hgnc.symbol:6493 semapv:UnspecifiedMatching +OMIM:150292 LAMC2 skos:exactMatch hgnc.symbol:LAMC2 semapv:UnspecifiedMatching +OMIM:150292 LAMC2 skos:exactMatch ncbigene:3918 semapv:UnspecifiedMatching +OMIM:150300 larynx, congenital partial atresia of skos:exactMatch MONDO:0007879 semapv:UnspecifiedMatching +OMIM:150310 LAMB3 skos:exactMatch hgnc.symbol:6490 semapv:UnspecifiedMatching +OMIM:150310 LAMB3 skos:exactMatch hgnc.symbol:LAMB3 semapv:UnspecifiedMatching +OMIM:150310 LAMB3 skos:exactMatch ncbigene:3914 semapv:UnspecifiedMatching +OMIM:150320 LAMA1 skos:exactMatch hgnc.symbol:6481 semapv:UnspecifiedMatching +OMIM:150320 LAMA1 skos:exactMatch hgnc.symbol:LAMA1 semapv:UnspecifiedMatching +OMIM:150320 LAMA1 skos:exactMatch ncbigene:284217 semapv:UnspecifiedMatching +OMIM:150325 LAMB2 skos:exactMatch hgnc.symbol:6487 semapv:UnspecifiedMatching +OMIM:150325 LAMB2 skos:exactMatch hgnc.symbol:LAMB2 semapv:UnspecifiedMatching +OMIM:150325 LAMB2 skos:exactMatch ncbigene:3913 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C0033300 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C0410190 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C0796031 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1416877 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1720860 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1854154 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C1857829 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C2750785 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C4016241 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C4016243 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch UMLS:C5399785 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch hgnc.symbol:6636 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch hgnc.symbol:LMNA semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch ncbigene:4000 semapv:UnspecifiedMatching +OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:6637 semapv:UnspecifiedMatching +OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:LMNB1 semapv:UnspecifiedMatching +OMIM:150340 LMNB1 skos:exactMatch ncbigene:4001 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch UMLS:C1416878 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch UMLS:C3887501 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch UMLS:C4225289 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:6638 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:LMNB2 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch ncbigene:84823 semapv:UnspecifiedMatching +OMIM:150360 laryngeal web, familial skos:exactMatch MONDO:0007880 semapv:UnspecifiedMatching +OMIM:150370 RPSA skos:exactMatch hgnc.symbol:6502 semapv:UnspecifiedMatching +OMIM:150370 RPSA skos:exactMatch hgnc.symbol:RPSA semapv:UnspecifiedMatching +OMIM:150370 RPSA skos:exactMatch ncbigene:3921 semapv:UnspecifiedMatching +OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:6714 semapv:UnspecifiedMatching +OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:LTBP1 semapv:UnspecifiedMatching +OMIM:150390 LTBP1 skos:exactMatch ncbigene:4052 semapv:UnspecifiedMatching +OMIM:150400 tooth agenesis, selective, 4 skos:exactMatch MONDO:0007881 semapv:UnspecifiedMatching +OMIM:150500 lattice degeneration of retina leading to retinal detachment skos:exactMatch MONDO:0007882 semapv:UnspecifiedMatching +OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch MONDO:0007883 semapv:UnspecifiedMatching +OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching +OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:6561 semapv:UnspecifiedMatching +OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:LGALS1 semapv:UnspecifiedMatching +OMIM:150570 LGALS1 skos:exactMatch ncbigene:3956 semapv:UnspecifiedMatching +OMIM:150571 LGALS2 skos:exactMatch hgnc.symbol:6562 semapv:UnspecifiedMatching +OMIM:150571 LGALS2 skos:exactMatch hgnc.symbol:LGALS2 semapv:UnspecifiedMatching +OMIM:150571 LGALS2 skos:exactMatch ncbigene:3957 semapv:UnspecifiedMatching +OMIM:150590 leg ulcers, familial, of juvenile onset skos:exactMatch MONDO:0007884 semapv:UnspecifiedMatching +OMIM:150600 legg-calve-perthes disease skos:exactMatch MONDO:0007885 semapv:UnspecifiedMatching +OMIM:150699 leiomyoma, uterine skos:exactMatch MONDO:0007886 semapv:UnspecifiedMatching +OMIM:150699 leiomyoma, uterine skos:exactMatch UMLS:C0042133 semapv:UnspecifiedMatching +OMIM:150700 leiomyoma of vulva and esophagus skos:exactMatch MONDO:0007887 semapv:UnspecifiedMatching +OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch MONDO:0007888 semapv:UnspecifiedMatching +OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 semapv:UnspecifiedMatching +OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching +OMIM:150900 lentigines skos:exactMatch MONDO:0021582 semapv:UnspecifiedMatching +OMIM:151000 lentiginosis, centrofacial neurodysraphic skos:exactMatch MONDO:0007890 semapv:UnspecifiedMatching +OMIM:151001 lentiginosis, inherited patterned skos:exactMatch MONDO:0007891 semapv:UnspecifiedMatching +OMIM:151050 lenz-majewski hyperostotic dwarfism skos:exactMatch MONDO:0007892 semapv:UnspecifiedMatching +OMIM:151100 leopard syndrome 1 skos:exactMatch MONDO:0100082 semapv:UnspecifiedMatching +OMIM:151100 leopard syndrome 1 skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching +OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C0175704 semapv:UnspecifiedMatching +OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching +OMIM:151200 chromosome 8q22.1 duplication syndrome skos:exactMatch MONDO:0007894 semapv:UnspecifiedMatching +OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch MONDO:0007895 semapv:UnspecifiedMatching +OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch Orphanet:85166 semapv:UnspecifiedMatching +OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching +OMIM:151290 B3GAT1 skos:exactMatch hgnc.symbol:921 semapv:UnspecifiedMatching +OMIM:151290 B3GAT1 skos:exactMatch hgnc.symbol:B3GAT1 semapv:UnspecifiedMatching +OMIM:151290 B3GAT1 skos:exactMatch ncbigene:27087 semapv:UnspecifiedMatching +OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:6656 semapv:UnspecifiedMatching +OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:LNPEP semapv:UnspecifiedMatching +OMIM:151300 LNPEP skos:exactMatch ncbigene:4012 semapv:UnspecifiedMatching +OMIM:151310 LEUT skos:exactMatch ncbigene:3343 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch UMLS:C1416799 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch UMLS:C3809522 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch hgnc.symbol:6512 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch hgnc.symbol:LARS1 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch ncbigene:51520 semapv:UnspecifiedMatching +OMIM:151380 leukemia, acute monocytic skos:exactMatch MONDO:0007896 semapv:UnspecifiedMatching +OMIM:151385 RUNX1 skos:exactMatch hgnc.symbol:10471 semapv:UnspecifiedMatching +OMIM:151385 RUNX1 skos:exactMatch hgnc.symbol:RUNX1 semapv:UnspecifiedMatching +OMIM:151385 RUNX1 skos:exactMatch ncbigene:861 semapv:UnspecifiedMatching +OMIM:151400 leukemia, chronic lymphocytic skos:exactMatch MONDO:0004948 semapv:UnspecifiedMatching +OMIM:151410 BCR skos:exactMatch UMLS:C0812385 semapv:UnspecifiedMatching +OMIM:151410 BCR skos:exactMatch hgnc.symbol:1014 semapv:UnspecifiedMatching +OMIM:151410 BCR skos:exactMatch hgnc.symbol:BCR semapv:UnspecifiedMatching +OMIM:151410 BCR skos:exactMatch ncbigene:613 semapv:UnspecifiedMatching +OMIM:151430 BCL2 skos:exactMatch hgnc.symbol:990 semapv:UnspecifiedMatching +OMIM:151430 BCL2 skos:exactMatch hgnc.symbol:BCL2 semapv:UnspecifiedMatching +OMIM:151430 BCL2 skos:exactMatch ncbigene:596 semapv:UnspecifiedMatching +OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:6734 semapv:UnspecifiedMatching +OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:LYL1 semapv:UnspecifiedMatching +OMIM:151440 LYL1 skos:exactMatch ncbigene:4066 semapv:UnspecifiedMatching +OMIM:151441 BCL5 skos:exactMatch ncbigene:603 semapv:UnspecifiedMatching +OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:6510 semapv:UnspecifiedMatching +OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:STMN1 semapv:UnspecifiedMatching +OMIM:151442 STMN1 skos:exactMatch ncbigene:3925 semapv:UnspecifiedMatching +OMIM:151443 LIFR skos:exactMatch hgnc.symbol:6597 semapv:UnspecifiedMatching +OMIM:151443 LIFR skos:exactMatch hgnc.symbol:LIFR semapv:UnspecifiedMatching +OMIM:151443 LIFR skos:exactMatch ncbigene:3977 semapv:UnspecifiedMatching +OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:3612 semapv:UnspecifiedMatching +OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:FCER2 semapv:UnspecifiedMatching +OMIM:151445 FCER2 skos:exactMatch ncbigene:2208 semapv:UnspecifiedMatching +OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:9666 semapv:UnspecifiedMatching +OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:PTPRC semapv:UnspecifiedMatching +OMIM:151460 PTPRC skos:exactMatch ncbigene:5788 semapv:UnspecifiedMatching +OMIM:151500 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch MONDO:0007898 semapv:UnspecifiedMatching +OMIM:151510 ITGAX skos:exactMatch hgnc.symbol:6152 semapv:UnspecifiedMatching +OMIM:151510 ITGAX skos:exactMatch hgnc.symbol:ITGAX semapv:UnspecifiedMatching +OMIM:151510 ITGAX skos:exactMatch ncbigene:3687 semapv:UnspecifiedMatching +OMIM:151520 LTK skos:exactMatch hgnc.symbol:6721 semapv:UnspecifiedMatching +OMIM:151520 LTK skos:exactMatch hgnc.symbol:LTK semapv:UnspecifiedMatching +OMIM:151520 LTK skos:exactMatch ncbigene:4058 semapv:UnspecifiedMatching +OMIM:151523 CD37 skos:exactMatch hgnc.symbol:1666 semapv:UnspecifiedMatching +OMIM:151523 CD37 skos:exactMatch hgnc.symbol:CD37 semapv:UnspecifiedMatching +OMIM:151523 CD37 skos:exactMatch ncbigene:951 semapv:UnspecifiedMatching +OMIM:151525 CD53 skos:exactMatch hgnc.symbol:1686 semapv:UnspecifiedMatching +OMIM:151525 CD53 skos:exactMatch hgnc.symbol:CD53 semapv:UnspecifiedMatching +OMIM:151525 CD53 skos:exactMatch ncbigene:963 semapv:UnspecifiedMatching +OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:500 semapv:UnspecifiedMatching +OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:ANPEP semapv:UnspecifiedMatching +OMIM:151530 ANPEP skos:exactMatch ncbigene:290 semapv:UnspecifiedMatching +OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:6710 semapv:UnspecifiedMatching +OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:LTA4H semapv:UnspecifiedMatching +OMIM:151570 LTA4H skos:exactMatch ncbigene:4048 semapv:UnspecifiedMatching +OMIM:151590 lichen sclerosus et atrophicus skos:exactMatch MONDO:0007899 semapv:UnspecifiedMatching +OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch MONDO:0007900 semapv:UnspecifiedMatching +OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch Orphanet:2387 semapv:UnspecifiedMatching +OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch UMLS:C0544855 semapv:UnspecifiedMatching +OMIM:151610 oculomotor-levator synkinesis skos:exactMatch MONDO:0007901 semapv:UnspecifiedMatching +OMIM:151620 lichen planus, familial skos:exactMatch MONDO:0007902 semapv:UnspecifiedMatching +OMIM:151623 li-fraumeni syndrome skos:exactMatch MONDO:0018875 semapv:UnspecifiedMatching +OMIM:151625 LGTN skos:exactMatch hgnc.symbol:39494 semapv:UnspecifiedMatching +OMIM:151625 LGTN skos:exactMatch hgnc.symbol:LGTN semapv:UnspecifiedMatching +OMIM:151625 LGTN skos:exactMatch ncbigene:100529141 semapv:UnspecifiedMatching +OMIM:151630 lip, median nodule of upper skos:exactMatch MONDO:0007904 semapv:UnspecifiedMatching +OMIM:151640 lip, hamartomatous skos:exactMatch MONDO:0007905 semapv:UnspecifiedMatching +OMIM:151660 lipodystrophy, familial partial, iia 2 skos:exactMatch MONDO:0007906 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch UMLS:C1416867 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch UMLS:C2675071 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch UMLS:C3151466 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch hgnc.symbol:6619 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch hgnc.symbol:LIPC semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch ncbigene:3990 semapv:UnspecifiedMatching +OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:6525 semapv:UnspecifiedMatching +OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:LCN1 semapv:UnspecifiedMatching +OMIM:151675 LCN1 skos:exactMatch ncbigene:3933 semapv:UnspecifiedMatching +OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:533 semapv:UnspecifiedMatching +OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:ANXA1 semapv:UnspecifiedMatching +OMIM:151690 ANXA1 skos:exactMatch ncbigene:301 semapv:UnspecifiedMatching +OMIM:151700 lipoma of the conjunctiva skos:exactMatch MONDO:0007907 semapv:UnspecifiedMatching +OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:537 semapv:UnspecifiedMatching +OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:ANXA2 semapv:UnspecifiedMatching +OMIM:151740 ANXA2 skos:exactMatch ncbigene:302 semapv:UnspecifiedMatching +OMIM:151750 LIPE skos:exactMatch hgnc.symbol:6621 semapv:UnspecifiedMatching +OMIM:151750 LIPE skos:exactMatch hgnc.symbol:LIPE semapv:UnspecifiedMatching +OMIM:151750 LIPE skos:exactMatch ncbigene:3991 semapv:UnspecifiedMatching +OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch MONDO:0007908 semapv:UnspecifiedMatching +OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch Orphanet:2398 semapv:UnspecifiedMatching +OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch UMLS:C0023804 semapv:UnspecifiedMatching +OMIM:151900 lipomatosis, familial multiple skos:exactMatch MONDO:0007909 semapv:UnspecifiedMatching +OMIM:151990 LBP skos:exactMatch hgnc.symbol:6517 semapv:UnspecifiedMatching +OMIM:151990 LBP skos:exactMatch hgnc.symbol:LBP semapv:UnspecifiedMatching +OMIM:151990 LBP skos:exactMatch ncbigene:3929 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch UMLS:C0065058 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch UMLS:C1835362 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch UMLS:C4016245 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch UMLS:C4016246 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch UMLS:C5436941 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch hgnc.symbol:6667 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch hgnc.symbol:LPA semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch ncbigene:4018 semapv:UnspecifiedMatching +OMIM:152300 lipoprotein types--lt system skos:exactMatch MONDO:0007910 semapv:UnspecifiedMatching +OMIM:152310 TFPI skos:exactMatch hgnc.symbol:11760 semapv:UnspecifiedMatching +OMIM:152310 TFPI skos:exactMatch hgnc.symbol:TFPI semapv:UnspecifiedMatching +OMIM:152310 TFPI skos:exactMatch ncbigene:7035 semapv:UnspecifiedMatching +OMIM:152390 ALOX5 skos:exactMatch hgnc.symbol:435 semapv:UnspecifiedMatching +OMIM:152390 ALOX5 skos:exactMatch hgnc.symbol:ALOX5 semapv:UnspecifiedMatching +OMIM:152390 ALOX5 skos:exactMatch ncbigene:240 semapv:UnspecifiedMatching +OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:429 semapv:UnspecifiedMatching +OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:ALOX12 semapv:UnspecifiedMatching +OMIM:152391 ALOX12 skos:exactMatch ncbigene:239 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch UMLS:C1332082 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch UMLS:C5193165 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:433 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:ALOX15 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch ncbigene:246 semapv:UnspecifiedMatching +OMIM:152400 lipoprotein, variant of beta skos:exactMatch MONDO:0007911 semapv:UnspecifiedMatching +OMIM:152420 lithium transport skos:exactMatch MONDO:0007912 semapv:UnspecifiedMatching +OMIM:152424 locus control region, beta skos:exactMatch ncbigene:109580095 semapv:UnspecifiedMatching +OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:3569 semapv:UnspecifiedMatching +OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:ACSL1 semapv:UnspecifiedMatching +OMIM:152425 ACSL1 skos:exactMatch ncbigene:2180 semapv:UnspecifiedMatching +OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:6251 semapv:UnspecifiedMatching +OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:KCNH2 semapv:UnspecifiedMatching +OMIM:152427 KCNH2 skos:exactMatch ncbigene:3757 semapv:UnspecifiedMatching +OMIM:152445 LOR skos:exactMatch hgnc.symbol:6663 semapv:UnspecifiedMatching +OMIM:152445 LOR skos:exactMatch hgnc.symbol:LORICRIN semapv:UnspecifiedMatching +OMIM:152445 LOR skos:exactMatch ncbigene:4014 semapv:UnspecifiedMatching +OMIM:152450 low density lipoprotein, variation 1n molecular weight of skos:exactMatch MONDO:0007913 semapv:UnspecifiedMatching +OMIM:152550 lumbar stenosis, familial skos:exactMatch MONDO:0007914 semapv:UnspecifiedMatching +OMIM:152600 lunulae of fingernails skos:exactMatch MONDO:0044238 semapv:UnspecifiedMatching +OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:4055 semapv:UnspecifiedMatching +OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:XRCC6 semapv:UnspecifiedMatching +OMIM:152690 XRCC6 skos:exactMatch ncbigene:2547 semapv:UnspecifiedMatching +OMIM:152700 systemic lupus erythematosus skos:exactMatch MONDO:0007915 semapv:UnspecifiedMatching +OMIM:152700 systemic lupus erythematosus skos:exactMatch UMLS:C0024141 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch UMLS:C1415169 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch UMLS:C4016249 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:4419 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:GNRH1 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch ncbigene:2796 semapv:UnspecifiedMatching +OMIM:152780 LHB skos:exactMatch hgnc.symbol:6584 semapv:UnspecifiedMatching +OMIM:152780 LHB skos:exactMatch hgnc.symbol:LHB semapv:UnspecifiedMatching +OMIM:152780 LHB skos:exactMatch ncbigene:3972 semapv:UnspecifiedMatching +OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:6585 semapv:UnspecifiedMatching +OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:LHCGR semapv:UnspecifiedMatching +OMIM:152790 LHCGR skos:exactMatch ncbigene:3973 semapv:UnspecifiedMatching +OMIM:152800 lymphangiectasia, intestinal skos:exactMatch MONDO:0007916 semapv:UnspecifiedMatching +OMIM:152900 lymphedema and cerebral arteriovenous anomaly skos:exactMatch MONDO:0007917 semapv:UnspecifiedMatching +OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development skos:exactMatch MONDO:0007918 semapv:UnspecifiedMatching +OMIM:153100 lymphatic malformation 1 skos:exactMatch MONDO:0007919 semapv:UnspecifiedMatching +OMIM:153100 lymphatic malformation 1 skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching +OMIM:153100 lymphatic malformation 1 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching +OMIM:153200 lymphatic malformation 5 skos:exactMatch MONDO:0007920 semapv:UnspecifiedMatching +OMIM:153240 SELL skos:exactMatch hgnc.symbol:10720 semapv:UnspecifiedMatching +OMIM:153240 SELL skos:exactMatch hgnc.symbol:SELL semapv:UnspecifiedMatching +OMIM:153240 SELL skos:exactMatch ncbigene:6402 semapv:UnspecifiedMatching +OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:11923 semapv:UnspecifiedMatching +OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:TNFRSF8 semapv:UnspecifiedMatching +OMIM:153243 TNFRSF8 skos:exactMatch ncbigene:943 semapv:UnspecifiedMatching +OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:6551 semapv:UnspecifiedMatching +OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:LEF1 semapv:UnspecifiedMatching +OMIM:153245 LEF1 skos:exactMatch ncbigene:51176 semapv:UnspecifiedMatching +OMIM:153300 yellow nail syndrome skos:exactMatch MONDO:0007921 semapv:UnspecifiedMatching +OMIM:153310 CLC skos:exactMatch hgnc.symbol:2014 semapv:UnspecifiedMatching +OMIM:153310 CLC skos:exactMatch hgnc.symbol:CLC semapv:UnspecifiedMatching +OMIM:153310 CLC skos:exactMatch ncbigene:1178 semapv:UnspecifiedMatching +OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:6499 semapv:UnspecifiedMatching +OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:LAMP1 semapv:UnspecifiedMatching +OMIM:153330 LAMP1 skos:exactMatch ncbigene:3916 semapv:UnspecifiedMatching +OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:6476 semapv:UnspecifiedMatching +OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:LAG3 semapv:UnspecifiedMatching +OMIM:153337 LAG3 skos:exactMatch ncbigene:3902 semapv:UnspecifiedMatching +OMIM:153340 CD5 skos:exactMatch hgnc.symbol:1685 semapv:UnspecifiedMatching +OMIM:153340 CD5 skos:exactMatch hgnc.symbol:CD5 semapv:UnspecifiedMatching +OMIM:153340 CD5 skos:exactMatch ncbigene:921 semapv:UnspecifiedMatching +OMIM:153370 ITGAL skos:exactMatch hgnc.symbol:6148 semapv:UnspecifiedMatching +OMIM:153370 ITGAL skos:exactMatch hgnc.symbol:ITGAL semapv:UnspecifiedMatching +OMIM:153370 ITGAL skos:exactMatch ncbigene:3683 semapv:UnspecifiedMatching +OMIM:153380 lymphocyte cytosol polypeptide, 20-kd skos:exactMatch ncbigene:7938 semapv:UnspecifiedMatching +OMIM:153390 LCK skos:exactMatch hgnc.symbol:6524 semapv:UnspecifiedMatching +OMIM:153390 LCK skos:exactMatch hgnc.symbol:LCK semapv:UnspecifiedMatching +OMIM:153390 LCK skos:exactMatch ncbigene:3932 semapv:UnspecifiedMatching +OMIM:153400 lymphedema-distichiasis syndrome skos:exactMatch MONDO:0007922 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch UMLS:C1332715 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch hgnc.symbol:1688 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch hgnc.symbol:CD58 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch ncbigene:965 semapv:UnspecifiedMatching +OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:6528 semapv:UnspecifiedMatching +OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:LCP1 semapv:UnspecifiedMatching +OMIM:153430 LCP1 skos:exactMatch ncbigene:3936 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch UMLS:C1416925 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:6707 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:LSP1 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch ncbigene:4046 semapv:UnspecifiedMatching +OMIM:153435 LAKL skos:exactMatch ncbigene:3905 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch UMLS:C0812308 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch UMLS:C1835223 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch UMLS:C2750103 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch hgnc.symbol:6709 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch hgnc.symbol:LTA semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch ncbigene:4049 semapv:UnspecifiedMatching +OMIM:153450 LYZ skos:exactMatch hgnc.symbol:6740 semapv:UnspecifiedMatching +OMIM:153450 LYZ skos:exactMatch hgnc.symbol:LYZ semapv:UnspecifiedMatching +OMIM:153450 LYZ skos:exactMatch ncbigene:4069 semapv:UnspecifiedMatching +OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:9081 semapv:UnspecifiedMatching +OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:PLOD1 semapv:UnspecifiedMatching +OMIM:153454 PLOD1 skos:exactMatch ncbigene:5351 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch UMLS:C1334349 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch UMLS:C4016254 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch UMLS:C4284414 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch hgnc.symbol:6664 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch hgnc.symbol:LOX semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch ncbigene:4015 semapv:UnspecifiedMatching +OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:6665 semapv:UnspecifiedMatching +OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:LOXL1 semapv:UnspecifiedMatching +OMIM:153456 LOXL1 skos:exactMatch ncbigene:4016 semapv:UnspecifiedMatching +OMIM:153470 macrocephaly, benign familial skos:exactMatch MONDO:0007923 semapv:UnspecifiedMatching +OMIM:153550 chromosome 5q deletion syndrome skos:exactMatch MONDO:0007925 semapv:UnspecifiedMatching +OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch MONDO:0100281 semapv:UnspecifiedMatching +OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch Orphanet:33226 semapv:UnspecifiedMatching +OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch UMLS:C1835192 semapv:UnspecifiedMatching +OMIM:153615 CAPG skos:exactMatch hgnc.symbol:1474 semapv:UnspecifiedMatching +OMIM:153615 CAPG skos:exactMatch hgnc.symbol:CAPG semapv:UnspecifiedMatching +OMIM:153615 CAPG skos:exactMatch ncbigene:822 semapv:UnspecifiedMatching +OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:7228 semapv:UnspecifiedMatching +OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:MRC1 semapv:UnspecifiedMatching +OMIM:153618 MRC1 skos:exactMatch ncbigene:4360 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch UMLS:C1416831 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:6563 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:LGALS3 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch ncbigene:3958 semapv:UnspecifiedMatching +OMIM:153620 MIF skos:exactMatch hgnc.symbol:7097 semapv:UnspecifiedMatching +OMIM:153620 MIF skos:exactMatch hgnc.symbol:MIF semapv:UnspecifiedMatching +OMIM:153620 MIF skos:exactMatch ncbigene:4282 semapv:UnspecifiedMatching +OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:7376 semapv:UnspecifiedMatching +OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:MSR1 semapv:UnspecifiedMatching +OMIM:153622 MSR1 skos:exactMatch ncbigene:4481 semapv:UnspecifiedMatching +OMIM:153630 macroglossia skos:exactMatch MONDO:0007927 semapv:UnspecifiedMatching +OMIM:153634 CD68 skos:exactMatch hgnc.symbol:1693 semapv:UnspecifiedMatching +OMIM:153634 CD68 skos:exactMatch hgnc.symbol:CD68 semapv:UnspecifiedMatching +OMIM:153634 CD68 skos:exactMatch ncbigene:968 semapv:UnspecifiedMatching +OMIM:153670 bernard-soulier syndrome, iia a2, autosomal dominant skos:exactMatch MONDO:0007930 semapv:UnspecifiedMatching +OMIM:153700 macular dystrophy, vitelliform, 2 skos:exactMatch MONDO:0007931 semapv:UnspecifiedMatching +OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch MONDO:0007932 semapv:UnspecifiedMatching +OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching +OMIM:153840 macular dystrophy, vitelliform, 1 skos:exactMatch MONDO:0007933 semapv:UnspecifiedMatching +OMIM:153870 retinitis pigmentosa 91 skos:exactMatch MONDO:0007934 semapv:UnspecifiedMatching +OMIM:153880 macular dystrophy, dominant cystoid skos:exactMatch MONDO:0007935 semapv:UnspecifiedMatching +OMIM:153890 macular dystrophy, fenestrated sheen iia skos:exactMatch MONDO:0007936 semapv:UnspecifiedMatching +OMIM:154020 hypomagnesemia 2, renal skos:exactMatch MONDO:0007937 semapv:UnspecifiedMatching +OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:8014 semapv:UnspecifiedMatching +OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:YBX1 semapv:UnspecifiedMatching +OMIM:154030 YBX1 skos:exactMatch ncbigene:4904 semapv:UnspecifiedMatching +OMIM:154040 NELFE skos:exactMatch hgnc.symbol:13974 semapv:UnspecifiedMatching +OMIM:154040 NELFE skos:exactMatch hgnc.symbol:NELFE semapv:UnspecifiedMatching +OMIM:154040 NELFE skos:exactMatch ncbigene:7936 semapv:UnspecifiedMatching +OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:6610 semapv:UnspecifiedMatching +OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:LIM2 semapv:UnspecifiedMatching +OMIM:154045 LIM2 skos:exactMatch ncbigene:3982 semapv:UnspecifiedMatching +OMIM:154050 MIP skos:exactMatch hgnc.symbol:7103 semapv:UnspecifiedMatching +OMIM:154050 MIP skos:exactMatch hgnc.symbol:MIP semapv:UnspecifiedMatching +OMIM:154050 MIP skos:exactMatch ncbigene:4284 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch UMLS:C1417088 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:6971 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:MDH2 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch ncbigene:4191 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch UMLS:C1417087 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:6970 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:MDH1 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch ncbigene:4190 semapv:UnspecifiedMatching +OMIM:154230 46,xy sex reversal 4 skos:exactMatch MONDO:0007938 semapv:UnspecifiedMatching +OMIM:154235 MAK skos:exactMatch hgnc.symbol:6816 semapv:UnspecifiedMatching +OMIM:154235 MAK skos:exactMatch hgnc.symbol:MAK semapv:UnspecifiedMatching +OMIM:154235 MAK skos:exactMatch ncbigene:4117 semapv:UnspecifiedMatching +OMIM:154250 ME1 skos:exactMatch hgnc.symbol:6983 semapv:UnspecifiedMatching +OMIM:154250 ME1 skos:exactMatch hgnc.symbol:ME1 semapv:UnspecifiedMatching +OMIM:154250 ME1 skos:exactMatch ncbigene:4199 semapv:UnspecifiedMatching +OMIM:154270 ME2 skos:exactMatch hgnc.symbol:6984 semapv:UnspecifiedMatching +OMIM:154270 ME2 skos:exactMatch hgnc.symbol:ME2 semapv:UnspecifiedMatching +OMIM:154270 ME2 skos:exactMatch ncbigene:4200 semapv:UnspecifiedMatching +OMIM:154275 malignant hyperthermia, susceptibility to, 2 skos:exactMatch MONDO:0007939 semapv:UnspecifiedMatching +OMIM:154276 malignant hyperthermia, susceptibility to, 3 skos:exactMatch MONDO:0007940 semapv:UnspecifiedMatching +OMIM:154280 SAI1 skos:exactMatch ncbigene:6298 semapv:UnspecifiedMatching +OMIM:154300 malocclusion due to protuberant upper front teeth skos:exactMatch MONDO:0007941 semapv:UnspecifiedMatching +OMIM:154360 MGAM skos:exactMatch hgnc.symbol:7043 semapv:UnspecifiedMatching +OMIM:154360 MGAM skos:exactMatch hgnc.symbol:MGAM semapv:UnspecifiedMatching +OMIM:154360 MGAM skos:exactMatch ncbigene:8972 semapv:UnspecifiedMatching +OMIM:154365 PSMC2 skos:exactMatch hgnc.symbol:9548 semapv:UnspecifiedMatching +OMIM:154365 PSMC2 skos:exactMatch hgnc.symbol:PSMC2 semapv:UnspecifiedMatching +OMIM:154365 PSMC2 skos:exactMatch ncbigene:5701 semapv:UnspecifiedMatching +OMIM:154370 mammastatin skos:exactMatch MONDO:0007942 semapv:UnspecifiedMatching +OMIM:154400 acrofacial dysostosis 1, nager iia skos:exactMatch MONDO:0007943 semapv:UnspecifiedMatching +OMIM:154500 treacher collins syndrome 1 skos:exactMatch MONDO:0007944 semapv:UnspecifiedMatching +OMIM:154500 treacher collins syndrome 1 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching +OMIM:154500 treacher collins syndrome 1 skos:exactMatch UMLS:C0242387 semapv:UnspecifiedMatching +OMIM:154540 M6PR skos:exactMatch hgnc.symbol:6752 semapv:UnspecifiedMatching +OMIM:154540 M6PR skos:exactMatch hgnc.symbol:M6PR semapv:UnspecifiedMatching +OMIM:154540 M6PR skos:exactMatch ncbigene:4074 semapv:UnspecifiedMatching +OMIM:154545 MBL2 skos:exactMatch hgnc.symbol:6922 semapv:UnspecifiedMatching +OMIM:154545 MBL2 skos:exactMatch hgnc.symbol:MBL2 semapv:UnspecifiedMatching +OMIM:154545 MBL2 skos:exactMatch ncbigene:4153 semapv:UnspecifiedMatching +OMIM:154550 MPI skos:exactMatch hgnc.symbol:7216 semapv:UnspecifiedMatching +OMIM:154550 MPI skos:exactMatch hgnc.symbol:MPI semapv:UnspecifiedMatching +OMIM:154550 MPI skos:exactMatch ncbigene:4351 semapv:UnspecifiedMatching +OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese iia skos:exactMatch MONDO:0007945 semapv:UnspecifiedMatching +OMIM:154580 MAN2C1 skos:exactMatch hgnc.symbol:6827 semapv:UnspecifiedMatching +OMIM:154580 MAN2C1 skos:exactMatch hgnc.symbol:MAN2C1 semapv:UnspecifiedMatching +OMIM:154580 MAN2C1 skos:exactMatch ncbigene:4123 semapv:UnspecifiedMatching +OMIM:154582 MAN2A1 skos:exactMatch hgnc.symbol:6824 semapv:UnspecifiedMatching +OMIM:154582 MAN2A1 skos:exactMatch hgnc.symbol:MAN2A1 semapv:UnspecifiedMatching +OMIM:154582 MAN2A1 skos:exactMatch ncbigene:4124 semapv:UnspecifiedMatching +OMIM:154600 marcus gunn phenomenon skos:exactMatch MONDO:0007946 semapv:UnspecifiedMatching +OMIM:154700 marfan syndrome skos:exactMatch MONDO:0007947 semapv:UnspecifiedMatching +OMIM:154750 marfanoid hypermobility syndrome skos:exactMatch MONDO:0007948 semapv:UnspecifiedMatching +OMIM:154780 marshall syndrome skos:exactMatch MONDO:0007949 semapv:UnspecifiedMatching +OMIM:154780 marshall syndrome skos:exactMatch Orphanet:560 semapv:UnspecifiedMatching +OMIM:154780 marshall syndrome skos:exactMatch UMLS:C0265235 semapv:UnspecifiedMatching +OMIM:154790 PI5 skos:exactMatch hgnc.symbol:8949 semapv:UnspecifiedMatching +OMIM:154790 PI5 skos:exactMatch hgnc.symbol:SERPINB5 semapv:UnspecifiedMatching +OMIM:154790 PI5 skos:exactMatch ncbigene:5268 semapv:UnspecifiedMatching +OMIM:154800 mastocytosis, cutaneous skos:exactMatch MONDO:0019023 semapv:UnspecifiedMatching +OMIM:154850 masticatory muscles, hypertrophy of skos:exactMatch MONDO:0007951 semapv:UnspecifiedMatching +OMIM:154870 MGP skos:exactMatch hgnc.symbol:7060 semapv:UnspecifiedMatching +OMIM:154870 MGP skos:exactMatch hgnc.symbol:MGP semapv:UnspecifiedMatching +OMIM:154870 MGP skos:exactMatch ncbigene:4256 semapv:UnspecifiedMatching +OMIM:154950 MAX skos:exactMatch hgnc.symbol:6913 semapv:UnspecifiedMatching +OMIM:154950 MAX skos:exactMatch hgnc.symbol:MAX semapv:UnspecifiedMatching +OMIM:154950 MAX skos:exactMatch ncbigene:4149 semapv:UnspecifiedMatching +OMIM:155000 maxillofacial dysostosis skos:exactMatch MONDO:0007952 semapv:UnspecifiedMatching +OMIM:155050 maxillonasal dysplasia, binder iia skos:exactMatch MONDO:0007953 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch MONDO:0015912 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:850 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0340978 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0398641 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0403445 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1842035 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1854520 semapv:UnspecifiedMatching +OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:189 semapv:UnspecifiedMatching +OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:ADAM11 semapv:UnspecifiedMatching +OMIM:155120 ADAM11 skos:exactMatch ncbigene:4185 semapv:UnspecifiedMatching +OMIM:155140 meckel diverticulum skos:exactMatch MONDO:0007955 semapv:UnspecifiedMatching +OMIM:155145 cleft, median, of upper 51p with polyps of facial skin and nasal mucosa skos:exactMatch MONDO:0007956 semapv:UnspecifiedMatching +OMIM:155150 median-ulnar nerve communications skos:exactMatch MONDO:0044239 semapv:UnspecifiedMatching +OMIM:155200 mediosternal depigmentation line skos:exactMatch MONDO:0007957 semapv:UnspecifiedMatching +OMIM:155240 thyroid carcinoma, familial medullary skos:exactMatch MONDO:0007958 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch MONDO:0007959 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251863 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251867 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch UMLS:C1334970 semapv:UnspecifiedMatching +OMIM:155310 visceral myopathy 1 skos:exactMatch MONDO:0020754 semapv:UnspecifiedMatching +OMIM:155350 megalencephaly, autosomal dominant skos:exactMatch MONDO:0007961 semapv:UnspecifiedMatching +OMIM:155500 macrodactyly skos:exactMatch MONDO:0007962 semapv:UnspecifiedMatching +OMIM:155540 MC3R skos:exactMatch hgnc.symbol:6931 semapv:UnspecifiedMatching +OMIM:155540 MC3R skos:exactMatch hgnc.symbol:MC3R semapv:UnspecifiedMatching +OMIM:155540 MC3R skos:exactMatch ncbigene:4159 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch UMLS:C1417064 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch UMLS:C5193151 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch UMLS:C5193166 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch UMLS:C5193167 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch hgnc.symbol:6932 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch hgnc.symbol:MC4R semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch ncbigene:4160 semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch UMLS:C1420066 semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch hgnc.symbol:10880 semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch hgnc.symbol:PMEL semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch ncbigene:6490 semapv:UnspecifiedMatching +OMIM:155555 MC1R skos:exactMatch hgnc.symbol:6929 semapv:UnspecifiedMatching +OMIM:155555 MC1R skos:exactMatch hgnc.symbol:MC1R semapv:UnspecifiedMatching +OMIM:155555 MC1R skos:exactMatch ncbigene:4157 semapv:UnspecifiedMatching +OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch MONDO:0007963 semapv:UnspecifiedMatching +OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch MONDO:0007964 semapv:UnspecifiedMatching +OMIM:155700 melanoma, malignant familial intraocular skos:exactMatch MONDO:0007965 semapv:UnspecifiedMatching +OMIM:155720 melanoma, uveal skos:exactMatch MONDO:0006486 semapv:UnspecifiedMatching +OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:4602 semapv:UnspecifiedMatching +OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:CXCL1 semapv:UnspecifiedMatching +OMIM:155730 CXCL1 skos:exactMatch ncbigene:2919 semapv:UnspecifiedMatching +OMIM:155735 MCAM skos:exactMatch hgnc.symbol:6934 semapv:UnspecifiedMatching +OMIM:155735 MCAM skos:exactMatch hgnc.symbol:MCAM semapv:UnspecifiedMatching +OMIM:155735 MCAM skos:exactMatch ncbigene:4162 semapv:UnspecifiedMatching +OMIM:155740 CD63 skos:exactMatch hgnc.symbol:1692 semapv:UnspecifiedMatching +OMIM:155740 CD63 skos:exactMatch hgnc.symbol:CD63 semapv:UnspecifiedMatching +OMIM:155740 CD63 skos:exactMatch ncbigene:967 semapv:UnspecifiedMatching +OMIM:155750 MELTF skos:exactMatch hgnc.symbol:7037 semapv:UnspecifiedMatching +OMIM:155750 MELTF skos:exactMatch hgnc.symbol:MELTF semapv:UnspecifiedMatching +OMIM:155750 MELTF skos:exactMatch ncbigene:4241 semapv:UnspecifiedMatching +OMIM:155755 melanoma-astrocytoma syndrome skos:exactMatch MONDO:0007967 semapv:UnspecifiedMatching +OMIM:155760 ACAN skos:exactMatch hgnc.symbol:319 semapv:UnspecifiedMatching +OMIM:155760 ACAN skos:exactMatch hgnc.symbol:ACAN semapv:UnspecifiedMatching +OMIM:155760 ACAN skos:exactMatch ncbigene:176 semapv:UnspecifiedMatching +OMIM:155770 melanoma tumor antigen gp90 skos:exactMatch MONDO:0007968 semapv:UnspecifiedMatching +OMIM:155900 melkersson-rosenthal syndrome skos:exactMatch MONDO:0007969 semapv:UnspecifiedMatching +OMIM:155950 melorheostosis, isolated skos:exactMatch MONDO:0007970 semapv:UnspecifiedMatching +OMIM:155950 melorheostosis, isolated skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching +OMIM:155950 melorheostosis, isolated skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching +OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:7203 semapv:UnspecifiedMatching +OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:CD200 semapv:UnspecifiedMatching +OMIM:155970 MOX2 skos:exactMatch ncbigene:4345 semapv:UnspecifiedMatching +OMIM:155980 membranous cranial ossification, delayed skos:exactMatch MONDO:0007971 semapv:UnspecifiedMatching +OMIM:156000 meniere disease skos:exactMatch MONDO:0007972 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch UMLS:C1417217 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch hgnc.symbol:7180 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch hgnc.symbol:MN1 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch ncbigene:4330 semapv:UnspecifiedMatching +OMIM:156190 mental and growth retardation with amblyopia skos:exactMatch MONDO:0007973 semapv:UnspecifiedMatching +OMIM:156200 intellectual developmental disorder, autosomal dominant 1 skos:exactMatch MONDO:0007974 semapv:UnspecifiedMatching +OMIM:156220 meralgia paraesthetica, familial skos:exactMatch MONDO:0007975 semapv:UnspecifiedMatching +OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:6482 semapv:UnspecifiedMatching +OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:LAMA2 semapv:UnspecifiedMatching +OMIM:156225 LAMA2 skos:exactMatch ncbigene:3908 semapv:UnspecifiedMatching +OMIM:156230 mesomelic dwarfism of hypoplastic tibia and radius iia skos:exactMatch MONDO:0007976 semapv:UnspecifiedMatching +OMIM:156232 mesomelic dysplasia, kantaputra iia skos:exactMatch MONDO:0007977 semapv:UnspecifiedMatching +OMIM:156240 mesothelioma, malignant skos:exactMatch MONDO:0006292 semapv:UnspecifiedMatching +OMIM:156250 metachondromatosis skos:exactMatch MONDO:0007979 semapv:UnspecifiedMatching +OMIM:156300 metachromasia of fibroblasts skos:exactMatch MONDO:0007980 semapv:UnspecifiedMatching +OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch MONDO:0007981 semapv:UnspecifiedMatching +OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching +OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch UMLS:C1835007 semapv:UnspecifiedMatching +OMIM:156349 MT1B skos:exactMatch hgnc.symbol:7394 semapv:UnspecifiedMatching +OMIM:156349 MT1B skos:exactMatch hgnc.symbol:MT1B semapv:UnspecifiedMatching +OMIM:156349 MT1B skos:exactMatch ncbigene:4490 semapv:UnspecifiedMatching +OMIM:156350 MT1A skos:exactMatch hgnc.symbol:7393 semapv:UnspecifiedMatching +OMIM:156350 MT1A skos:exactMatch hgnc.symbol:MT1A semapv:UnspecifiedMatching +OMIM:156350 MT1A skos:exactMatch ncbigene:4489 semapv:UnspecifiedMatching +OMIM:156351 MT1E skos:exactMatch hgnc.symbol:7397 semapv:UnspecifiedMatching +OMIM:156351 MT1E skos:exactMatch hgnc.symbol:MT1E semapv:UnspecifiedMatching +OMIM:156351 MT1E skos:exactMatch ncbigene:4493 semapv:UnspecifiedMatching +OMIM:156352 MT1F skos:exactMatch hgnc.symbol:7398 semapv:UnspecifiedMatching +OMIM:156352 MT1F skos:exactMatch hgnc.symbol:MT1F semapv:UnspecifiedMatching +OMIM:156352 MT1F skos:exactMatch ncbigene:4494 semapv:UnspecifiedMatching +OMIM:156353 MT1G skos:exactMatch hgnc.symbol:7399 semapv:UnspecifiedMatching +OMIM:156353 MT1G skos:exactMatch hgnc.symbol:MT1G semapv:UnspecifiedMatching +OMIM:156353 MT1G skos:exactMatch ncbigene:4495 semapv:UnspecifiedMatching +OMIM:156354 MT1H skos:exactMatch hgnc.symbol:7400 semapv:UnspecifiedMatching +OMIM:156354 MT1H skos:exactMatch hgnc.symbol:MT1H semapv:UnspecifiedMatching +OMIM:156354 MT1H skos:exactMatch ncbigene:4496 semapv:UnspecifiedMatching +OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:7401 semapv:UnspecifiedMatching +OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:MT1IP semapv:UnspecifiedMatching +OMIM:156355 MT1IP skos:exactMatch ncbigene:644314 semapv:UnspecifiedMatching +OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:7402 semapv:UnspecifiedMatching +OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:MT1JP semapv:UnspecifiedMatching +OMIM:156356 MT1JP skos:exactMatch ncbigene:4498 semapv:UnspecifiedMatching +OMIM:156357 MT1K skos:exactMatch hgnc.symbol:14296 semapv:UnspecifiedMatching +OMIM:156357 MT1K skos:exactMatch hgnc.symbol:MT1M semapv:UnspecifiedMatching +OMIM:156357 MT1K skos:exactMatch ncbigene:4499 semapv:UnspecifiedMatching +OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:7404 semapv:UnspecifiedMatching +OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:MT1L semapv:UnspecifiedMatching +OMIM:156358 MT1LP skos:exactMatch ncbigene:4500 semapv:UnspecifiedMatching +OMIM:156359 MT1X skos:exactMatch hgnc.symbol:7405 semapv:UnspecifiedMatching +OMIM:156359 MT1X skos:exactMatch hgnc.symbol:MT1X semapv:UnspecifiedMatching +OMIM:156359 MT1X skos:exactMatch ncbigene:4501 semapv:UnspecifiedMatching +OMIM:156360 MT2A skos:exactMatch hgnc.symbol:7406 semapv:UnspecifiedMatching +OMIM:156360 MT2A skos:exactMatch hgnc.symbol:MT2A semapv:UnspecifiedMatching +OMIM:156360 MT2A skos:exactMatch ncbigene:4502 semapv:UnspecifiedMatching +OMIM:156400 metaphyseal chondrodysplasia, jansen iia skos:exactMatch MONDO:0007982 semapv:UnspecifiedMatching +OMIM:156490 NME1 skos:exactMatch hgnc.symbol:7849 semapv:UnspecifiedMatching +OMIM:156490 NME1 skos:exactMatch hgnc.symbol:NME1 semapv:UnspecifiedMatching +OMIM:156490 NME1 skos:exactMatch ncbigene:4830 semapv:UnspecifiedMatching +OMIM:156491 NME2 skos:exactMatch hgnc.symbol:7850 semapv:UnspecifiedMatching +OMIM:156491 NME2 skos:exactMatch hgnc.symbol:NME2 semapv:UnspecifiedMatching +OMIM:156491 NME2 skos:exactMatch ncbigene:4831 semapv:UnspecifiedMatching +OMIM:156500 metaphyseal chondrodysplasia, schmid iia skos:exactMatch MONDO:0007983 semapv:UnspecifiedMatching +OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly skos:exactMatch MONDO:0007984 semapv:UnspecifiedMatching +OMIM:156520 metatarsus varus, iia 1 skos:exactMatch MONDO:0007985 semapv:UnspecifiedMatching +OMIM:156530 metatropic dysplasia skos:exactMatch MONDO:0007986 semapv:UnspecifiedMatching +OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:6916 semapv:UnspecifiedMatching +OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:MBD1 semapv:UnspecifiedMatching +OMIM:156535 MBD1 skos:exactMatch ncbigene:4152 semapv:UnspecifiedMatching +OMIM:156540 MTAP skos:exactMatch hgnc.symbol:7413 semapv:UnspecifiedMatching +OMIM:156540 MTAP skos:exactMatch hgnc.symbol:MTAP semapv:UnspecifiedMatching +OMIM:156540 MTAP skos:exactMatch ncbigene:4507 semapv:UnspecifiedMatching +OMIM:156550 kniest dysplasia skos:exactMatch MONDO:0007987 semapv:UnspecifiedMatching +OMIM:156550 kniest dysplasia skos:exactMatch Orphanet:485 semapv:UnspecifiedMatching +OMIM:156550 kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching +OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:6898 semapv:UnspecifiedMatching +OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:MARS1 semapv:UnspecifiedMatching +OMIM:156560 MARS1 skos:exactMatch ncbigene:4141 semapv:UnspecifiedMatching +OMIM:156565 MPG skos:exactMatch hgnc.symbol:7211 semapv:UnspecifiedMatching +OMIM:156565 MPG skos:exactMatch hgnc.symbol:MPG semapv:UnspecifiedMatching +OMIM:156565 MPG skos:exactMatch ncbigene:4350 semapv:UnspecifiedMatching +OMIM:156569 MGMT skos:exactMatch hgnc.symbol:7059 semapv:UnspecifiedMatching +OMIM:156569 MGMT skos:exactMatch hgnc.symbol:MGMT semapv:UnspecifiedMatching +OMIM:156569 MGMT skos:exactMatch ncbigene:4255 semapv:UnspecifiedMatching +OMIM:156570 MTR skos:exactMatch hgnc.symbol:7468 semapv:UnspecifiedMatching +OMIM:156570 MTR skos:exactMatch hgnc.symbol:MTR semapv:UnspecifiedMatching +OMIM:156570 MTR skos:exactMatch ncbigene:4548 semapv:UnspecifiedMatching +OMIM:156580 microcephaly, autosomal dominant skos:exactMatch MONDO:0007988 semapv:UnspecifiedMatching +OMIM:156600 microcoria, congenital skos:exactMatch MONDO:0007989 semapv:UnspecifiedMatching +OMIM:156610 skin creases, congenital symmetric circumferential, 1 skos:exactMatch MONDO:0020738 semapv:UnspecifiedMatching +OMIM:156620 microcephaly-deafness syndrome skos:exactMatch MONDO:0007991 semapv:UnspecifiedMatching +OMIM:156700 microcornea, glaucoma, and absent frontal sinuses skos:exactMatch MONDO:0007992 semapv:UnspecifiedMatching +OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:7033 semapv:UnspecifiedMatching +OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:MFAP2 semapv:UnspecifiedMatching +OMIM:156790 MFAP2 skos:exactMatch ncbigene:4237 semapv:UnspecifiedMatching +OMIM:156810 microgastria-limb reduction defects association skos:exactMatch MONDO:0007993 semapv:UnspecifiedMatching +OMIM:156830 micromelic bone dysplasia with cloverleaf skull skos:exactMatch MONDO:0007994 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C1417172 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch UMLS:C4310625 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch hgnc.symbol:7105 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch hgnc.symbol:MITF semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch ncbigene:4286 semapv:UnspecifiedMatching +OMIM:156850 microphthalmia, isolated, with cataract 1 skos:exactMatch MONDO:0007995 semapv:UnspecifiedMatching +OMIM:156900 microphthalmia, isolated, with corectopia skos:exactMatch MONDO:0007996 semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch UMLS:C1417004 semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:6836 semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:MAP1B semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch ncbigene:4131 semapv:UnspecifiedMatching +OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:6839 semapv:UnspecifiedMatching +OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:MAP2 semapv:UnspecifiedMatching +OMIM:157130 MAP2 skos:exactMatch ncbigene:4133 semapv:UnspecifiedMatching +OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:6862 semapv:UnspecifiedMatching +OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:MAP4 semapv:UnspecifiedMatching +OMIM:157132 MAP4 skos:exactMatch ncbigene:4134 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C1446659 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C1850077 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch hgnc.symbol:6893 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch hgnc.symbol:MAPT semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch ncbigene:4137 semapv:UnspecifiedMatching +OMIM:157145 MSMB skos:exactMatch hgnc.symbol:7372 semapv:UnspecifiedMatching +OMIM:157145 MSMB skos:exactMatch hgnc.symbol:MSMB semapv:UnspecifiedMatching +OMIM:157145 MSMB skos:exactMatch ncbigene:4477 semapv:UnspecifiedMatching +OMIM:157147 MTTP skos:exactMatch hgnc.symbol:7467 semapv:UnspecifiedMatching +OMIM:157147 MTTP skos:exactMatch hgnc.symbol:MTTP semapv:UnspecifiedMatching +OMIM:157147 MTTP skos:exactMatch ncbigene:4547 semapv:UnspecifiedMatching +OMIM:157150 microspherophakia with hernia skos:exactMatch MONDO:0007997 semapv:UnspecifiedMatching +OMIM:157151 microspherophakia-metaphyseal dysplasia skos:exactMatch MONDO:0007998 semapv:UnspecifiedMatching +OMIM:157170 holoprosencephaly 2 skos:exactMatch MONDO:0007999 semapv:UnspecifiedMatching +OMIM:157200 midphalangeal hair skos:exactMatch MONDO:0023807 semapv:UnspecifiedMatching +OMIM:157300 migraine with or without aura, susceptibility to, 1 skos:exactMatch MONDO:0008000 semapv:UnspecifiedMatching +OMIM:157400 milia, multiple eruptive skos:exactMatch MONDO:0008001 semapv:UnspecifiedMatching +OMIM:157560 minisatellite 33.6 skos:exactMatch UMLS:C1834872 semapv:UnspecifiedMatching +OMIM:157570 minisatellite 33.15 skos:exactMatch UMLS:C1834871 semapv:UnspecifiedMatching +OMIM:157600 mirror movements 1 skos:exactMatch MONDO:0008002 semapv:UnspecifiedMatching +OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch MONDO:0024528 semapv:UnspecifiedMatching +OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching +OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch UMLS:C1834846 semapv:UnspecifiedMatching +OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:7707 semapv:UnspecifiedMatching +OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:NDUFS1 semapv:UnspecifiedMatching +OMIM:157655 NDUFS1 skos:exactMatch ncbigene:4719 semapv:UnspecifiedMatching +OMIM:157660 RMRP skos:exactMatch hgnc.symbol:10031 semapv:UnspecifiedMatching +OMIM:157660 RMRP skos:exactMatch hgnc.symbol:RMRP semapv:UnspecifiedMatching +OMIM:157660 RMRP skos:exactMatch ncbigene:6023 semapv:UnspecifiedMatching +OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:1727 semapv:UnspecifiedMatching +OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:CDC25C semapv:UnspecifiedMatching +OMIM:157680 CDC25C skos:exactMatch ncbigene:995 semapv:UnspecifiedMatching +OMIM:157700 mitral valve prolapse 1 skos:exactMatch MONDO:0024529 semapv:UnspecifiedMatching +OMIM:157700 mitral valve prolapse 1 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching +OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C0340364 semapv:UnspecifiedMatching +OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C1834819 semapv:UnspecifiedMatching +OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch MONDO:0008005 semapv:UnspecifiedMatching +OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching +OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching +OMIM:157900 moebius syndrome skos:exactMatch MONDO:0008006 semapv:UnspecifiedMatching +OMIM:157900 moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching +OMIM:157900 moebius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching +OMIM:157950 permanent molars, secondary retention of skos:exactMatch MONDO:0008007 semapv:UnspecifiedMatching +OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:9565 semapv:UnspecifiedMatching +OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:PSMD7 semapv:UnspecifiedMatching +OMIM:157970 PSMD7 skos:exactMatch ncbigene:5713 semapv:UnspecifiedMatching +OMIM:157980 momo syndrome skos:exactMatch MONDO:0008008 semapv:UnspecifiedMatching +OMIM:158000 monilethrix skos:exactMatch MONDO:0008009 semapv:UnspecifiedMatching +OMIM:158030 antigen defined by monoclonal antibody aj9 skos:exactMatch MONDO:0008010 semapv:UnspecifiedMatching +OMIM:158040 antigen defined by monoclonal antibody t87 skos:exactMatch MONDO:0008011 semapv:UnspecifiedMatching +OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:11026 semapv:UnspecifiedMatching +OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:SLC3A2 semapv:UnspecifiedMatching +OMIM:158070 SLC3A2 skos:exactMatch ncbigene:6520 semapv:UnspecifiedMatching +OMIM:158100 monophalangy of great toe skos:exactMatch MONDO:0008012 semapv:UnspecifiedMatching +OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:10618 semapv:UnspecifiedMatching +OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:CCL2 semapv:UnspecifiedMatching +OMIM:158105 CCL2 skos:exactMatch ncbigene:6347 semapv:UnspecifiedMatching +OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:10634 semapv:UnspecifiedMatching +OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:CCL7 semapv:UnspecifiedMatching +OMIM:158106 CCL7 skos:exactMatch ncbigene:6354 semapv:UnspecifiedMatching +OMIM:158120 CD14 skos:exactMatch hgnc.symbol:1628 semapv:UnspecifiedMatching +OMIM:158120 CD14 skos:exactMatch hgnc.symbol:CD14 semapv:UnspecifiedMatching +OMIM:158120 CD14 skos:exactMatch ncbigene:929 semapv:UnspecifiedMatching +OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch MONDO:0008013 semapv:UnspecifiedMatching +OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 semapv:UnspecifiedMatching +OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch UMLS:C0795830 semapv:UnspecifiedMatching +OMIM:158250 nondisjunction skos:exactMatch MONDO:0008014 semapv:UnspecifiedMatching +OMIM:158270 MLN skos:exactMatch hgnc.symbol:7141 semapv:UnspecifiedMatching +OMIM:158270 MLN skos:exactMatch hgnc.symbol:MLN semapv:UnspecifiedMatching +OMIM:158270 MLN skos:exactMatch ncbigene:4295 semapv:UnspecifiedMatching +OMIM:158280 motion sickness skos:exactMatch MONDO:0008015 semapv:UnspecifiedMatching +OMIM:158300 arthrogryposis, distal, iia 7 skos:exactMatch MONDO:0008016 semapv:UnspecifiedMatching +OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch MONDO:0008017 semapv:UnspecifiedMatching +OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch Orphanet:1839 semapv:UnspecifiedMatching +OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching +OMIM:158320 muir-torre syndrome skos:exactMatch MONDO:0008018 semapv:UnspecifiedMatching +OMIM:158330 mullerian aplasia and hyperandrogenism skos:exactMatch MONDO:0008019 semapv:UnspecifiedMatching +OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:7508 semapv:UnspecifiedMatching +OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:MUC1 semapv:UnspecifiedMatching +OMIM:158340 MUC1 skos:exactMatch ncbigene:4582 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch UMLS:C0919458 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:51 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:ABCC1 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch ncbigene:4363 semapv:UnspecifiedMatching +OMIM:158345 multiple exostoses with spastic tetraparesis skos:exactMatch MONDO:0008020 semapv:UnspecifiedMatching +OMIM:158350 cowden syndrome 1 skos:exactMatch MONDO:0008021 semapv:UnspecifiedMatching +OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:7512 semapv:UnspecifiedMatching +OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:MUC2 semapv:UnspecifiedMatching +OMIM:158370 MUC2 skos:exactMatch ncbigene:4583 semapv:UnspecifiedMatching +OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:7513 semapv:UnspecifiedMatching +OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:MUC3A semapv:UnspecifiedMatching +OMIM:158371 MUC3A skos:exactMatch ncbigene:4584 semapv:UnspecifiedMatching +OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:7514 semapv:UnspecifiedMatching +OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:MUC4 semapv:UnspecifiedMatching +OMIM:158372 MUC4 skos:exactMatch ncbigene:4585 semapv:UnspecifiedMatching +OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:7515 semapv:UnspecifiedMatching +OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:MUC5AC semapv:UnspecifiedMatching +OMIM:158373 MUC5AC skos:exactMatch ncbigene:4586 semapv:UnspecifiedMatching +OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:7517 semapv:UnspecifiedMatching +OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:MUC6 semapv:UnspecifiedMatching +OMIM:158374 MUC6 skos:exactMatch ncbigene:4588 semapv:UnspecifiedMatching +OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:7518 semapv:UnspecifiedMatching +OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:MUC7 semapv:UnspecifiedMatching +OMIM:158375 MUC7 skos:exactMatch ncbigene:4589 semapv:UnspecifiedMatching +OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:10947 semapv:UnspecifiedMatching +OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:SLC20A2 semapv:UnspecifiedMatching +OMIM:158378 SLC20A2 skos:exactMatch ncbigene:6575 semapv:UnspecifiedMatching +OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:3499 semapv:UnspecifiedMatching +OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:EVI2A semapv:UnspecifiedMatching +OMIM:158380 EVI2A skos:exactMatch ncbigene:2123 semapv:UnspecifiedMatching +OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:3500 semapv:UnspecifiedMatching +OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:EVI2B semapv:UnspecifiedMatching +OMIM:158381 EVI2B skos:exactMatch ncbigene:2124 semapv:UnspecifiedMatching +OMIM:158400 muscle cramps, familial skos:exactMatch MONDO:0008022 semapv:UnspecifiedMatching +OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus skos:exactMatch MONDO:0008023 semapv:UnspecifiedMatching +OMIM:158580 neuronopathy, distal hereditary motor, autosomal dominant 7 skos:exactMatch MONDO:0008024 semapv:UnspecifiedMatching +OMIM:158590 neuronopathy, distal hereditary motor, autosomal dominant 2 skos:exactMatch MONDO:0008025 semapv:UnspecifiedMatching +OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant skos:exactMatch MONDO:0008026 semapv:UnspecifiedMatching +OMIM:158650 muscular atrophy, malignant neurogenic skos:exactMatch MONDO:0008027 semapv:UnspecifiedMatching +OMIM:158800 muscular dystrophy, barnes iia skos:exactMatch MONDO:0008028 semapv:UnspecifiedMatching +OMIM:158810 bethlem myopathy 1 skos:exactMatch MONDO:0024530 semapv:UnspecifiedMatching +OMIM:158900 facioscapulohumeral muscular dystrophy 1 skos:exactMatch MONDO:0008030 semapv:UnspecifiedMatching +OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic skos:exactMatch MONDO:0008031 semapv:UnspecifiedMatching +OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries skos:exactMatch MONDO:0008034 semapv:UnspecifiedMatching +OMIM:159100 muscular hypoplasia, congenital universal, of krabbe skos:exactMatch MONDO:0008035 semapv:UnspecifiedMatching +OMIM:159300 musical perfect pitch skos:exactMatch MONDO:0044240 semapv:UnspecifiedMatching +OMIM:159350 MCC skos:exactMatch hgnc.symbol:6935 semapv:UnspecifiedMatching +OMIM:159350 MCC skos:exactMatch hgnc.symbol:MCC semapv:UnspecifiedMatching +OMIM:159350 MCC skos:exactMatch ncbigene:4163 semapv:UnspecifiedMatching +OMIM:159400 myasthenia, limb-girdle, autoimmune skos:exactMatch MONDO:0008036 semapv:UnspecifiedMatching +OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:7547 semapv:UnspecifiedMatching +OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:MYBL1 semapv:UnspecifiedMatching +OMIM:159405 MYBL1 skos:exactMatch ncbigene:4603 semapv:UnspecifiedMatching +OMIM:159410 mydriatic response to pharmacologic agents skos:exactMatch MONDO:0044241 semapv:UnspecifiedMatching +OMIM:159420 mydriasis, congenital skos:exactMatch MONDO:0044242 semapv:UnspecifiedMatching +OMIM:159430 MBP skos:exactMatch hgnc.symbol:6925 semapv:UnspecifiedMatching +OMIM:159430 MBP skos:exactMatch hgnc.symbol:MBP semapv:UnspecifiedMatching +OMIM:159430 MBP skos:exactMatch ncbigene:4155 semapv:UnspecifiedMatching +OMIM:159440 MPZ skos:exactMatch hgnc.symbol:7225 semapv:UnspecifiedMatching +OMIM:159440 MPZ skos:exactMatch hgnc.symbol:MPZ semapv:UnspecifiedMatching +OMIM:159440 MPZ skos:exactMatch ncbigene:4359 semapv:UnspecifiedMatching +OMIM:159460 MAG skos:exactMatch hgnc.symbol:6783 semapv:UnspecifiedMatching +OMIM:159460 MAG skos:exactMatch hgnc.symbol:MAG semapv:UnspecifiedMatching +OMIM:159460 MAG skos:exactMatch ncbigene:4099 semapv:UnspecifiedMatching +OMIM:159465 MOG skos:exactMatch hgnc.symbol:7197 semapv:UnspecifiedMatching +OMIM:159465 MOG skos:exactMatch hgnc.symbol:MOG semapv:UnspecifiedMatching +OMIM:159465 MOG skos:exactMatch ncbigene:4340 semapv:UnspecifiedMatching +OMIM:159500 myelinated optic nerve fibers skos:exactMatch MONDO:0008037 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch UMLS:C0812295 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch UMLS:C1327915 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch UMLS:C3277190 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch UMLS:C4016267 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch UMLS:C4016268 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch hgnc.symbol:7217 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch hgnc.symbol:MPL semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch ncbigene:4352 semapv:UnspecifiedMatching +OMIM:159540 LIF skos:exactMatch hgnc.symbol:6596 semapv:UnspecifiedMatching +OMIM:159540 LIF skos:exactMatch hgnc.symbol:LIF semapv:UnspecifiedMatching +OMIM:159540 LIF skos:exactMatch ncbigene:3976 semapv:UnspecifiedMatching +OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch MONDO:0008038 semapv:UnspecifiedMatching +OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 semapv:UnspecifiedMatching +OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch UMLS:C1366587 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch UMLS:C1834590 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:6943 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:MCL1 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch ncbigene:4170 semapv:UnspecifiedMatching +OMIM:159553 MNDA skos:exactMatch hgnc.symbol:7183 semapv:UnspecifiedMatching +OMIM:159553 MNDA skos:exactMatch hgnc.symbol:MNDA semapv:UnspecifiedMatching +OMIM:159553 MNDA skos:exactMatch ncbigene:4332 semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch UMLS:C0919528 semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:7132 semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:KMT2A semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch ncbigene:4297 semapv:UnspecifiedMatching +OMIM:159556 MLLT1 skos:exactMatch UMLS:C1334513 semapv:UnspecifiedMatching +OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:7134 semapv:UnspecifiedMatching +OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:MLLT1 semapv:UnspecifiedMatching +OMIM:159556 MLLT1 skos:exactMatch ncbigene:4298 semapv:UnspecifiedMatching +OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:7135 semapv:UnspecifiedMatching +OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:AFF1 semapv:UnspecifiedMatching +OMIM:159557 AFF1 skos:exactMatch ncbigene:4299 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch UMLS:C1334515 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:7136 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:MLLT3 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch ncbigene:4300 semapv:UnspecifiedMatching +OMIM:159559 AFDN skos:exactMatch hgnc.symbol:7137 semapv:UnspecifiedMatching +OMIM:159559 AFDN skos:exactMatch hgnc.symbol:AFDN semapv:UnspecifiedMatching +OMIM:159559 AFDN skos:exactMatch ncbigene:4301 semapv:UnspecifiedMatching +OMIM:159580 myelopathy, htlv-1-associated skos:exactMatch MONDO:0008039 semapv:UnspecifiedMatching +OMIM:159590 CD33 skos:exactMatch hgnc.symbol:1659 semapv:UnspecifiedMatching +OMIM:159590 CD33 skos:exactMatch hgnc.symbol:CD33 semapv:UnspecifiedMatching +OMIM:159590 CD33 skos:exactMatch ncbigene:945 semapv:UnspecifiedMatching +OMIM:159595 myeloproliferative syndrome, transient skos:exactMatch MONDO:0008040 semapv:UnspecifiedMatching +OMIM:159600 myoclonic epilepsy, hartung iia skos:exactMatch MONDO:0008041 semapv:UnspecifiedMatching +OMIM:159800 myoclonus, cerebellar ataxia, and deafness skos:exactMatch MONDO:0008043 semapv:UnspecifiedMatching +OMIM:159900 dystonia 11, myoclonic skos:exactMatch MONDO:0008044 semapv:UnspecifiedMatching +OMIM:159900 dystonia 11, myoclonic skos:exactMatch Orphanet:36899 semapv:UnspecifiedMatching +OMIM:159900 dystonia 11, myoclonic skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching +OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy skos:exactMatch MONDO:0008045 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch UMLS:C1417574 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:7611 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:MYOD1 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch ncbigene:4654 semapv:UnspecifiedMatching +OMIM:159980 MYOG skos:exactMatch hgnc.symbol:7612 semapv:UnspecifiedMatching +OMIM:159980 MYOG skos:exactMatch hgnc.symbol:MYOG semapv:UnspecifiedMatching +OMIM:159980 MYOG skos:exactMatch ncbigene:4656 semapv:UnspecifiedMatching +OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:7565 semapv:UnspecifiedMatching +OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:MYF5 semapv:UnspecifiedMatching +OMIM:159990 MYF5 skos:exactMatch ncbigene:4617 semapv:UnspecifiedMatching +OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:7566 semapv:UnspecifiedMatching +OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:MYF6 semapv:UnspecifiedMatching +OMIM:159991 MYF6 skos:exactMatch ncbigene:4618 semapv:UnspecifiedMatching +OMIM:160000 MB skos:exactMatch hgnc.symbol:6915 semapv:UnspecifiedMatching +OMIM:160000 MB skos:exactMatch hgnc.symbol:MB semapv:UnspecifiedMatching +OMIM:160000 MB skos:exactMatch ncbigene:4151 semapv:UnspecifiedMatching +OMIM:160010 myoglobinuria, autosomal dominant skos:exactMatch MONDO:0008046 semapv:UnspecifiedMatching +OMIM:160120 episodic ataxia, iia 1 skos:exactMatch MONDO:0008047 semapv:UnspecifiedMatching +OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:37612 semapv:UnspecifiedMatching +OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:972 semapv:UnspecifiedMatching +OMIM:160120 episodic ataxia, iia 1 skos:exactMatch UMLS:C1719788 semapv:UnspecifiedMatching +OMIM:160150 myopathy, centronuclear, 1 skos:exactMatch MONDO:0008048 semapv:UnspecifiedMatching +OMIM:160300 myopathy, distal, infantile-onset skos:exactMatch MONDO:0008049 semapv:UnspecifiedMatching +OMIM:160500 myopathy, distal, 1 skos:exactMatch MONDO:0008050 semapv:UnspecifiedMatching +OMIM:160565 myopathy, tubular aggregate, 1 skos:exactMatch MONDO:0024531 semapv:UnspecifiedMatching +OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans skos:exactMatch MONDO:0008052 semapv:UnspecifiedMatching +OMIM:160700 myopia 2, autosomal dominant skos:exactMatch MONDO:0008053 semapv:UnspecifiedMatching +OMIM:160700 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C1417541 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C3279790 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C3279791 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch UMLS:C4016269 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:7576 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:MYH6 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch ncbigene:4624 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C1417538 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C5193098 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:7573 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:MYH3 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch ncbigene:4621 semapv:UnspecifiedMatching +OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:7567 semapv:UnspecifiedMatching +OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:MYH1 semapv:UnspecifiedMatching +OMIM:160730 MYH1 skos:exactMatch ncbigene:4619 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch UMLS:C1417537 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:7572 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:MYH2 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch ncbigene:4620 semapv:UnspecifiedMatching +OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:7578 semapv:UnspecifiedMatching +OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:MYH8 semapv:UnspecifiedMatching +OMIM:160741 MYH8 skos:exactMatch ncbigene:4626 semapv:UnspecifiedMatching +OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:7574 semapv:UnspecifiedMatching +OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:MYH4 semapv:UnspecifiedMatching +OMIM:160742 MYH4 skos:exactMatch ncbigene:4622 semapv:UnspecifiedMatching +OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:7569 semapv:UnspecifiedMatching +OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:MYH11 semapv:UnspecifiedMatching +OMIM:160745 MYH11 skos:exactMatch ncbigene:4629 semapv:UnspecifiedMatching +OMIM:160750 myositis skos:exactMatch MONDO:0600024 semapv:UnspecifiedMatching +OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:7577 semapv:UnspecifiedMatching +OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:MYH7 semapv:UnspecifiedMatching +OMIM:160760 MYH7 skos:exactMatch ncbigene:4625 semapv:UnspecifiedMatching +OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:7585 semapv:UnspecifiedMatching +OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:MYL4 semapv:UnspecifiedMatching +OMIM:160770 MYL4 skos:exactMatch ncbigene:4635 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C1417544 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C1863659 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C4693968 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C4693969 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C4693970 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch UMLS:C5200934 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:7579 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:MYH9 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch ncbigene:4627 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch UMLS:C1417535 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:7568 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:MYH10 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch ncbigene:4628 semapv:UnspecifiedMatching +OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:7602 semapv:UnspecifiedMatching +OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:MYO5A semapv:UnspecifiedMatching +OMIM:160777 MYO5A skos:exactMatch ncbigene:4644 semapv:UnspecifiedMatching +OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:7582 semapv:UnspecifiedMatching +OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:MYL1 semapv:UnspecifiedMatching +OMIM:160780 MYL1 skos:exactMatch ncbigene:4632 semapv:UnspecifiedMatching +OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:7583 semapv:UnspecifiedMatching +OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:MYL2 semapv:UnspecifiedMatching +OMIM:160781 MYL2 skos:exactMatch ncbigene:4633 semapv:UnspecifiedMatching +OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:7586 semapv:UnspecifiedMatching +OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:MYL5 semapv:UnspecifiedMatching +OMIM:160782 MYL5 skos:exactMatch ncbigene:4636 semapv:UnspecifiedMatching +OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:7584 semapv:UnspecifiedMatching +OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:MYL3 semapv:UnspecifiedMatching +OMIM:160790 MYL3 skos:exactMatch ncbigene:4634 semapv:UnspecifiedMatching +OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:7550 semapv:UnspecifiedMatching +OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:MYBPC2 semapv:UnspecifiedMatching +OMIM:160793 MYBPC2 skos:exactMatch ncbigene:4606 semapv:UnspecifiedMatching +OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:7549 semapv:UnspecifiedMatching +OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:MYBPC1 semapv:UnspecifiedMatching +OMIM:160794 MYBPC1 skos:exactMatch ncbigene:4604 semapv:UnspecifiedMatching +OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:7552 semapv:UnspecifiedMatching +OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:MYBPH semapv:UnspecifiedMatching +OMIM:160795 MYBPH skos:exactMatch ncbigene:4608 semapv:UnspecifiedMatching +OMIM:160800 myotonia congenita, autosomal dominant skos:exactMatch MONDO:0008055 semapv:UnspecifiedMatching +OMIM:160900 myotonic dystrophy 1 skos:exactMatch MONDO:0008056 semapv:UnspecifiedMatching +OMIM:160900 myotonic dystrophy 1 skos:exactMatch Orphanet:273 semapv:UnspecifiedMatching +OMIM:160900 myotonic dystrophy 1 skos:exactMatch UMLS:C3250443 semapv:UnspecifiedMatching +OMIM:160980 carney complex, iia 1 skos:exactMatch MONDO:0008057 semapv:UnspecifiedMatching +OMIM:160990 myotonic myopathy with cylindrical spirals skos:exactMatch MONDO:0008058 semapv:UnspecifiedMatching +OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:7857 semapv:UnspecifiedMatching +OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:NMT1 semapv:UnspecifiedMatching +OMIM:160993 NMT1 skos:exactMatch ncbigene:4836 semapv:UnspecifiedMatching +OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:5046 semapv:UnspecifiedMatching +OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:HNRNPM semapv:UnspecifiedMatching +OMIM:160994 HNRNPM skos:exactMatch ncbigene:4670 semapv:UnspecifiedMatching +OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:7044 semapv:UnspecifiedMatching +OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:MGAT1 semapv:UnspecifiedMatching +OMIM:160995 MGAT1 skos:exactMatch ncbigene:4245 semapv:UnspecifiedMatching +OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:7856 semapv:UnspecifiedMatching +OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:NQO2 semapv:UnspecifiedMatching +OMIM:160998 NQO2 skos:exactMatch ncbigene:4835 semapv:UnspecifiedMatching +OMIM:161000 naegeli-franceschetti-jadassohn syndrome skos:exactMatch MONDO:0008059 semapv:UnspecifiedMatching +OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:7716 semapv:UnspecifiedMatching +OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:NDUFV1 semapv:UnspecifiedMatching +OMIM:161015 NDUFV1 skos:exactMatch ncbigene:4723 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch MONDO:0008060 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:280654 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching +OMIM:161070 nail high-sulfur protein skos:exactMatch MONDO:0044243 semapv:UnspecifiedMatching +OMIM:161080 nail low-sulfur protein skos:exactMatch MONDO:0044244 semapv:UnspecifiedMatching +OMIM:161100 nailbeds, pigmentation of skos:exactMatch MONDO:0044245 semapv:UnspecifiedMatching +OMIM:161200 nail-patella syndrome skos:exactMatch MONDO:0008061 semapv:UnspecifiedMatching +OMIM:161200 nail-patella syndrome skos:exactMatch Orphanet:2614 semapv:UnspecifiedMatching +OMIM:161200 nail-patella syndrome skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching +OMIM:161400 narcolepsy 1 skos:exactMatch MONDO:0008062 semapv:UnspecifiedMatching +OMIM:161470 nasal alar collapse, bilateral skos:exactMatch MONDO:0008063 semapv:UnspecifiedMatching +OMIM:161480 nasal bones, absence of skos:exactMatch MONDO:0008064 semapv:UnspecifiedMatching +OMIM:161500 nasal groove, familial transverse skos:exactMatch MONDO:0008065 semapv:UnspecifiedMatching +OMIM:161530 nasal hyperpigmentation, familial transverse skos:exactMatch MONDO:0008066 semapv:UnspecifiedMatching +OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch MONDO:0008067 semapv:UnspecifiedMatching +OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:6374 semapv:UnspecifiedMatching +OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:KLRC1 semapv:UnspecifiedMatching +OMIM:161555 KLRC1 skos:exactMatch ncbigene:3821 semapv:UnspecifiedMatching +OMIM:161560 IL12A skos:exactMatch UMLS:C1334101 semapv:UnspecifiedMatching +OMIM:161560 IL12A skos:exactMatch hgnc.symbol:5969 semapv:UnspecifiedMatching +OMIM:161560 IL12A skos:exactMatch hgnc.symbol:IL12A semapv:UnspecifiedMatching +OMIM:161560 IL12A skos:exactMatch ncbigene:3592 semapv:UnspecifiedMatching +OMIM:161561 IL12B skos:exactMatch hgnc.symbol:5970 semapv:UnspecifiedMatching +OMIM:161561 IL12B skos:exactMatch hgnc.symbol:IL12B semapv:UnspecifiedMatching +OMIM:161561 IL12B skos:exactMatch ncbigene:3593 semapv:UnspecifiedMatching +OMIM:161565 NKTR skos:exactMatch hgnc.symbol:7833 semapv:UnspecifiedMatching +OMIM:161565 NKTR skos:exactMatch hgnc.symbol:NKTR semapv:UnspecifiedMatching +OMIM:161565 NKTR skos:exactMatch ncbigene:4820 semapv:UnspecifiedMatching +OMIM:161600 navicular bone, accessory skos:exactMatch MONDO:0008068 semapv:UnspecifiedMatching +OMIM:161650 NEB skos:exactMatch hgnc.symbol:7720 semapv:UnspecifiedMatching +OMIM:161650 NEB skos:exactMatch hgnc.symbol:NEB semapv:UnspecifiedMatching +OMIM:161650 NEB skos:exactMatch ncbigene:4703 semapv:UnspecifiedMatching +OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult skos:exactMatch MONDO:0008069 semapv:UnspecifiedMatching +OMIM:161800 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch MONDO:0008070 semapv:UnspecifiedMatching +OMIM:161900 renal failure, progressive, with hypertension skos:exactMatch MONDO:0008071 semapv:UnspecifiedMatching +OMIM:161950 iga nephropathy, susceptibility to, 1 skos:exactMatch MONDO:0008072 semapv:UnspecifiedMatching +OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 skos:exactMatch MONDO:0008073 semapv:UnspecifiedMatching +OMIM:162010 NGFR skos:exactMatch hgnc.symbol:7809 semapv:UnspecifiedMatching +OMIM:162010 NGFR skos:exactMatch hgnc.symbol:NGFR semapv:UnspecifiedMatching +OMIM:162010 NGFR skos:exactMatch ncbigene:4804 semapv:UnspecifiedMatching +OMIM:162020 skos:exactMatch MONDO:0008074 semapv:UnspecifiedMatching +OMIM:162030 NGF skos:exactMatch hgnc.symbol:7808 semapv:UnspecifiedMatching +OMIM:162030 NGF skos:exactMatch hgnc.symbol:NGF semapv:UnspecifiedMatching +OMIM:162030 NGF skos:exactMatch ncbigene:4803 semapv:UnspecifiedMatching +OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:4140 semapv:UnspecifiedMatching +OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:GAP43 semapv:UnspecifiedMatching +OMIM:162060 GAP43 skos:exactMatch ncbigene:2596 semapv:UnspecifiedMatching +OMIM:162080 NRL skos:exactMatch hgnc.symbol:8002 semapv:UnspecifiedMatching +OMIM:162080 NRL skos:exactMatch hgnc.symbol:NRL semapv:UnspecifiedMatching +OMIM:162080 NRL skos:exactMatch ncbigene:4901 semapv:UnspecifiedMatching +OMIM:162091 schwannomatosis 1 skos:exactMatch MONDO:0024517 semapv:UnspecifiedMatching +OMIM:162095 PTN skos:exactMatch hgnc.symbol:9630 semapv:UnspecifiedMatching +OMIM:162095 PTN skos:exactMatch hgnc.symbol:PTN semapv:UnspecifiedMatching +OMIM:162095 PTN skos:exactMatch ncbigene:5764 semapv:UnspecifiedMatching +OMIM:162096 MDK skos:exactMatch hgnc.symbol:6972 semapv:UnspecifiedMatching +OMIM:162096 MDK skos:exactMatch hgnc.symbol:MDK semapv:UnspecifiedMatching +OMIM:162096 MDK skos:exactMatch ncbigene:4192 semapv:UnspecifiedMatching +OMIM:162100 amyotrophy, hereditary neuralgic skos:exactMatch MONDO:0008076 semapv:UnspecifiedMatching +OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:8743 semapv:UnspecifiedMatching +OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:PCSK1 semapv:UnspecifiedMatching +OMIM:162150 PCSK1 skos:exactMatch ncbigene:5122 semapv:UnspecifiedMatching +OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:8744 semapv:UnspecifiedMatching +OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:PCSK2 semapv:UnspecifiedMatching +OMIM:162151 PCSK2 skos:exactMatch ncbigene:5126 semapv:UnspecifiedMatching +OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch MONDO:0018975 semapv:UnspecifiedMatching +OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:363700 semapv:UnspecifiedMatching +OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching +OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching +OMIM:162210 neurofibromatosis, familial spinal skos:exactMatch MONDO:0008078 semapv:UnspecifiedMatching +OMIM:162230 NEFH skos:exactMatch hgnc.symbol:7737 semapv:UnspecifiedMatching +OMIM:162230 NEFH skos:exactMatch hgnc.symbol:NEFH semapv:UnspecifiedMatching +OMIM:162230 NEFH skos:exactMatch ncbigene:4744 semapv:UnspecifiedMatching +OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch MONDO:0008079 semapv:UnspecifiedMatching +OMIM:162250 NEFM skos:exactMatch hgnc.symbol:7734 semapv:UnspecifiedMatching +OMIM:162250 NEFM skos:exactMatch hgnc.symbol:NEFM semapv:UnspecifiedMatching +OMIM:162250 NEFM skos:exactMatch ncbigene:4741 semapv:UnspecifiedMatching +OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral skos:exactMatch MONDO:0008080 semapv:UnspecifiedMatching +OMIM:162270 neurofibromatosis, iia iv, of riccardi skos:exactMatch MONDO:0008081 semapv:UnspecifiedMatching +OMIM:162280 NEFL skos:exactMatch hgnc.symbol:7739 semapv:UnspecifiedMatching +OMIM:162280 NEFL skos:exactMatch hgnc.symbol:NEFL semapv:UnspecifiedMatching +OMIM:162280 NEFL skos:exactMatch ncbigene:4747 semapv:UnspecifiedMatching +OMIM:162300 multiple endocrine neoplasia, iia 2b skos:exactMatch MONDO:0008082 semapv:UnspecifiedMatching +OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:11517 semapv:UnspecifiedMatching +OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:TAC1 semapv:UnspecifiedMatching +OMIM:162320 TAC1 skos:exactMatch ncbigene:6863 semapv:UnspecifiedMatching +OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:11527 semapv:UnspecifiedMatching +OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:TACR2 semapv:UnspecifiedMatching +OMIM:162321 TACR2 skos:exactMatch ncbigene:6865 semapv:UnspecifiedMatching +OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:11526 semapv:UnspecifiedMatching +OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:TACR1 semapv:UnspecifiedMatching +OMIM:162323 TACR1 skos:exactMatch ncbigene:6869 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch UMLS:C1420564 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch UMLS:C3553843 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch UMLS:C4016274 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:11521 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:TAC3 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch ncbigene:6866 semapv:UnspecifiedMatching +OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:11528 semapv:UnspecifiedMatching +OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:TACR3 semapv:UnspecifiedMatching +OMIM:162332 TACR3 skos:exactMatch ncbigene:6870 semapv:UnspecifiedMatching +OMIM:162340 NMB skos:exactMatch hgnc.symbol:7842 semapv:UnspecifiedMatching +OMIM:162340 NMB skos:exactMatch hgnc.symbol:NMB semapv:UnspecifiedMatching +OMIM:162340 NMB skos:exactMatch ncbigene:4828 semapv:UnspecifiedMatching +OMIM:162341 NMBR skos:exactMatch hgnc.symbol:7843 semapv:UnspecifiedMatching +OMIM:162341 NMBR skos:exactMatch hgnc.symbol:NMBR semapv:UnspecifiedMatching +OMIM:162341 NMBR skos:exactMatch ncbigene:4829 semapv:UnspecifiedMatching +OMIM:162350 ceroid lipofuscinosis, neuronal, 4 (kufs type) skos:exactMatch MONDO:0008083 semapv:UnspecifiedMatching +OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:7817 semapv:UnspecifiedMatching +OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:NHLH1 semapv:UnspecifiedMatching +OMIM:162360 NHLH1 skos:exactMatch ncbigene:4807 semapv:UnspecifiedMatching +OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:7818 semapv:UnspecifiedMatching +OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:NHLH2 semapv:UnspecifiedMatching +OMIM:162361 NHLH2 skos:exactMatch ncbigene:4808 semapv:UnspecifiedMatching +OMIM:162370 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch MONDO:0008084 semapv:UnspecifiedMatching +OMIM:162380 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch MONDO:0008085 semapv:UnspecifiedMatching +OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch MONDO:0008086 semapv:UnspecifiedMatching +OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching +OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C0020071 semapv:UnspecifiedMatching +OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching +OMIM:162500 neuropathy, hereditary, with liability to pressure palsies skos:exactMatch MONDO:0008087 semapv:UnspecifiedMatching +OMIM:162600 neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine skos:exactMatch MONDO:0008088 semapv:UnspecifiedMatching +OMIM:162640 NPY skos:exactMatch hgnc.symbol:7955 semapv:UnspecifiedMatching +OMIM:162640 NPY skos:exactMatch hgnc.symbol:NPY semapv:UnspecifiedMatching +OMIM:162640 NPY skos:exactMatch ncbigene:4852 semapv:UnspecifiedMatching +OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:7956 semapv:UnspecifiedMatching +OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:NPY1R semapv:UnspecifiedMatching +OMIM:162641 NPY1R skos:exactMatch ncbigene:4886 semapv:UnspecifiedMatching +OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:7957 semapv:UnspecifiedMatching +OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:NPY2R semapv:UnspecifiedMatching +OMIM:162642 NPY2R skos:exactMatch ncbigene:4887 semapv:UnspecifiedMatching +OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:2561 semapv:UnspecifiedMatching +OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:CXCR4 semapv:UnspecifiedMatching +OMIM:162643 CXCR4 skos:exactMatch ncbigene:7852 semapv:UnspecifiedMatching +OMIM:162650 NTS skos:exactMatch hgnc.symbol:8038 semapv:UnspecifiedMatching +OMIM:162650 NTS skos:exactMatch hgnc.symbol:NTS semapv:UnspecifiedMatching +OMIM:162650 NTS skos:exactMatch ncbigene:4922 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch UMLS:C1417870 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:8039 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:NTSR1 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch ncbigene:4923 semapv:UnspecifiedMatching +OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:8023 semapv:UnspecifiedMatching +OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:NTF3 semapv:UnspecifiedMatching +OMIM:162660 NTF3 skos:exactMatch ncbigene:4908 semapv:UnspecifiedMatching +OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:8024 semapv:UnspecifiedMatching +OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:NTF4 semapv:UnspecifiedMatching +OMIM:162662 NTF4 skos:exactMatch ncbigene:4909 semapv:UnspecifiedMatching +OMIM:162700 neutropenia, chronic familial skos:exactMatch MONDO:0008089 semapv:UnspecifiedMatching +OMIM:162800 cyclic neutropenia skos:exactMatch MONDO:0008090 semapv:UnspecifiedMatching +OMIM:162815 NAZC skos:exactMatch hgnc.symbol:913 semapv:UnspecifiedMatching +OMIM:162815 NAZC skos:exactMatch hgnc.symbol:AZU1 semapv:UnspecifiedMatching +OMIM:162815 NAZC skos:exactMatch ncbigene:566 semapv:UnspecifiedMatching +OMIM:162820 skos:exactMatch MONDO:0008091 semapv:UnspecifiedMatching +OMIM:162830 neutrophilia, hereditary skos:exactMatch MONDO:0008092 semapv:UnspecifiedMatching +OMIM:162860 CD177 skos:exactMatch hgnc.symbol:30072 semapv:UnspecifiedMatching +OMIM:162860 CD177 skos:exactMatch hgnc.symbol:CD177 semapv:UnspecifiedMatching +OMIM:162860 CD177 skos:exactMatch ncbigene:57126 semapv:UnspecifiedMatching +OMIM:162900 nevus, epidermal skos:exactMatch MONDO:0008093 semapv:UnspecifiedMatching +OMIM:163000 capillary malformations, congenital skos:exactMatch MONDO:0008094 semapv:UnspecifiedMatching +OMIM:163050 nevus anemicus skos:exactMatch MONDO:0008095 semapv:UnspecifiedMatching +OMIM:163100 nevus flammeus of nape of neck skos:exactMatch MONDO:0008096 semapv:UnspecifiedMatching +OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch MONDO:0008097 semapv:UnspecifiedMatching +OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch Orphanet:2612 semapv:UnspecifiedMatching +OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch UMLS:C4552097 semapv:UnspecifiedMatching +OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:7781 semapv:UnspecifiedMatching +OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:NFE2L1 semapv:UnspecifiedMatching +OMIM:163260 NFE2L1 skos:exactMatch ncbigene:4779 semapv:UnspecifiedMatching +OMIM:163400 nievergelt syndrome skos:exactMatch MONDO:0008098 semapv:UnspecifiedMatching +OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 skos:exactMatch MONDO:0008099 semapv:UnspecifiedMatching +OMIM:163600 nipples inverted skos:exactMatch MONDO:0008100 semapv:UnspecifiedMatching +OMIM:163700 nipples, supernumerary skos:exactMatch MONDO:0008101 semapv:UnspecifiedMatching +OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:7876 semapv:UnspecifiedMatching +OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:NOS3 semapv:UnspecifiedMatching +OMIM:163729 NOS3 skos:exactMatch ncbigene:4846 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C1417760 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:7873 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:NOS2 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch ncbigene:4843 semapv:UnspecifiedMatching +OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:7872 semapv:UnspecifiedMatching +OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:NOS1 semapv:UnspecifiedMatching +OMIM:163731 NOS1 skos:exactMatch ncbigene:4842 semapv:UnspecifiedMatching +OMIM:163800 sick sinus syndrome 2 skos:exactMatch MONDO:0008102 semapv:UnspecifiedMatching +OMIM:163850 noduli cutanei, multiple, with urinary tract abnormalities skos:exactMatch MONDO:0008103 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch UMLS:C0752347 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch UMLS:C1420276 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch UMLS:C1854182 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch UMLS:C1868595 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch hgnc.symbol:11138 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch hgnc.symbol:SNCA semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch ncbigene:6622 semapv:UnspecifiedMatching +OMIM:163905 HMGB1 skos:exactMatch hgnc.symbol:4983 semapv:UnspecifiedMatching +OMIM:163905 HMGB1 skos:exactMatch hgnc.symbol:HMGB1 semapv:UnspecifiedMatching +OMIM:163905 HMGB1 skos:exactMatch ncbigene:3146 semapv:UnspecifiedMatching +OMIM:163906 HMGB2 skos:exactMatch hgnc.symbol:5000 semapv:UnspecifiedMatching +OMIM:163906 HMGB2 skos:exactMatch hgnc.symbol:HMGB2 semapv:UnspecifiedMatching +OMIM:163906 HMGB2 skos:exactMatch ncbigene:3148 semapv:UnspecifiedMatching +OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:4986 semapv:UnspecifiedMatching +OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:HMGN2 semapv:UnspecifiedMatching +OMIM:163910 HMGN2 skos:exactMatch ncbigene:3151 semapv:UnspecifiedMatching +OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:4984 semapv:UnspecifiedMatching +OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:HMGN1 semapv:UnspecifiedMatching +OMIM:163920 HMGN1 skos:exactMatch ncbigene:3150 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch MONDO:0008104 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0041409 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C1527404 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching +OMIM:163955 skos:exactMatch MONDO:0023873 semapv:UnspecifiedMatching +OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:11048 semapv:UnspecifiedMatching +OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:SLC6A2 semapv:UnspecifiedMatching +OMIM:163970 SLC6A2 skos:exactMatch ncbigene:6530 semapv:UnspecifiedMatching +OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:1818 semapv:UnspecifiedMatching +OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:CEACAM6 semapv:UnspecifiedMatching +OMIM:163980 CEACAM6 skos:exactMatch ncbigene:4680 semapv:UnspecifiedMatching +OMIM:164000 nose, anomalous shape of skos:exactMatch MONDO:0008105 semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch UMLS:C1417707 semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch hgnc.symbol:7788 semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch hgnc.symbol:NFIX semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch ncbigene:4784 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch UMLS:C1334877 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:7797 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:NFKBIA semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch ncbigene:4792 semapv:UnspecifiedMatching +OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:8059 semapv:UnspecifiedMatching +OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:NUMA1 semapv:UnspecifiedMatching +OMIM:164009 NUMA1 skos:exactMatch ncbigene:4926 semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch UMLS:C1418385 semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch UMLS:C3554209 semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:8740 semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:CHMP1A semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch ncbigene:5119 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch UMLS:C1417708 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:7794 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:NFKB1 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch ncbigene:4790 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch UMLS:C0812286 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:7795 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:NFKB2 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch ncbigene:4791 semapv:UnspecifiedMatching +OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:7802 semapv:UnspecifiedMatching +OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:NFRKB semapv:UnspecifiedMatching +OMIM:164013 NFRKB skos:exactMatch ncbigene:4798 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch UMLS:C1335610 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch UMLS:C4748997 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch hgnc.symbol:9955 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch hgnc.symbol:RELA semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch ncbigene:5970 semapv:UnspecifiedMatching +OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:6912 semapv:UnspecifiedMatching +OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:MATR3 semapv:UnspecifiedMatching +OMIM:164015 MATR3 skos:exactMatch ncbigene:9782 semapv:UnspecifiedMatching +OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:5031 semapv:UnspecifiedMatching +OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:HNRNPA1 semapv:UnspecifiedMatching +OMIM:164017 HNRNPA1 skos:exactMatch ncbigene:3178 semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch UMLS:C1415637 semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:5035 semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:HNRNPC semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch ncbigene:3183 semapv:UnspecifiedMatching +OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:7867 semapv:UnspecifiedMatching +OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:NOP2 semapv:UnspecifiedMatching +OMIM:164031 NOP2 skos:exactMatch ncbigene:4839 semapv:UnspecifiedMatching +OMIM:164035 NCL skos:exactMatch hgnc.symbol:7667 semapv:UnspecifiedMatching +OMIM:164035 NCL skos:exactMatch hgnc.symbol:NCL semapv:UnspecifiedMatching +OMIM:164035 NCL skos:exactMatch ncbigene:4691 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch UMLS:C1334894 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:7910 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:NPM1 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch ncbigene:4869 semapv:UnspecifiedMatching +OMIM:164050 PNP skos:exactMatch hgnc.symbol:7892 semapv:UnspecifiedMatching +OMIM:164050 PNP skos:exactMatch hgnc.symbol:PNP semapv:UnspecifiedMatching +OMIM:164050 PNP skos:exactMatch ncbigene:4860 semapv:UnspecifiedMatching +OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:7637 semapv:UnspecifiedMatching +OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:NAP1L1 semapv:UnspecifiedMatching +OMIM:164060 NAP1L1 skos:exactMatch ncbigene:4673 semapv:UnspecifiedMatching +OMIM:164100 nystagmus 2, congenital, autosomal dominant skos:exactMatch MONDO:0008106 semapv:UnspecifiedMatching +OMIM:164150 nystagmus, hereditary vertical skos:exactMatch MONDO:0008107 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch UMLS:C1416825 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch UMLS:C3554224 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch UMLS:C4016279 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch hgnc.symbol:6553 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch hgnc.symbol:LEP semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch ncbigene:3952 semapv:UnspecifiedMatching +OMIM:164170 nystagmus, voluntary skos:exactMatch MONDO:0044246 semapv:UnspecifiedMatching +OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:9212 semapv:UnspecifiedMatching +OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:POU2F1 semapv:UnspecifiedMatching +OMIM:164175 POU2F1 skos:exactMatch ncbigene:5451 semapv:UnspecifiedMatching +OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:9213 semapv:UnspecifiedMatching +OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:POU2F2 semapv:UnspecifiedMatching +OMIM:164176 POU2F2 skos:exactMatch ncbigene:5452 semapv:UnspecifiedMatching +OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:9221 semapv:UnspecifiedMatching +OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:POU5F1 semapv:UnspecifiedMatching +OMIM:164177 POU5F1 skos:exactMatch ncbigene:5460 semapv:UnspecifiedMatching +OMIM:164180 oculocerebrocutaneous syndrome skos:exactMatch MONDO:0008108 semapv:UnspecifiedMatching +OMIM:164185 ocular cicatricial pemphigoid skos:exactMatch MONDO:0008109 semapv:UnspecifiedMatching +OMIM:164190 ocular dominance skos:exactMatch MONDO:0008110 semapv:UnspecifiedMatching +OMIM:164200 oculodentodigital dysplasia skos:exactMatch MONDO:0008111 semapv:UnspecifiedMatching +OMIM:164210 craniofacial microsomia 1 skos:exactMatch MONDO:0958175 semapv:UnspecifiedMatching +OMIM:164220 schilbach-rott syndrome skos:exactMatch MONDO:0008113 semapv:UnspecifiedMatching +OMIM:164230 obsessive-compulsive disorder skos:exactMatch MONDO:0008114 semapv:UnspecifiedMatching +OMIM:164280 feingold syndrome 1 skos:exactMatch MONDO:0008115 semapv:UnspecifiedMatching +OMIM:164300 oculopharyngeal muscular dystrophy 1 skos:exactMatch MONDO:0958176 semapv:UnspecifiedMatching +OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch MONDO:0020793 semapv:UnspecifiedMatching +OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching +OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C1834014 semapv:UnspecifiedMatching +OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C5231388 semapv:UnspecifiedMatching +OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:23380 semapv:UnspecifiedMatching +OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:OBP2A semapv:UnspecifiedMatching +OMIM:164320 OBP2A skos:exactMatch ncbigene:29991 semapv:UnspecifiedMatching +OMIM:164330 odontoma-dysphagia syndrome skos:exactMatch MONDO:0008118 semapv:UnspecifiedMatching +OMIM:164340 OMP skos:exactMatch hgnc.symbol:8136 semapv:UnspecifiedMatching +OMIM:164340 OMP skos:exactMatch hgnc.symbol:OMP semapv:UnspecifiedMatching +OMIM:164340 OMP skos:exactMatch ncbigene:4975 semapv:UnspecifiedMatching +OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:8183 semapv:UnspecifiedMatching +OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:OR1D2 semapv:UnspecifiedMatching +OMIM:164342 OR1D2 skos:exactMatch ncbigene:4991 semapv:UnspecifiedMatching +OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:3126 semapv:UnspecifiedMatching +OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:EBF1 semapv:UnspecifiedMatching +OMIM:164343 EBF1 skos:exactMatch ncbigene:1879 semapv:UnspecifiedMatching +OMIM:164345 OMG skos:exactMatch hgnc.symbol:8135 semapv:UnspecifiedMatching +OMIM:164345 OMG skos:exactMatch hgnc.symbol:OMG semapv:UnspecifiedMatching +OMIM:164345 OMG skos:exactMatch ncbigene:4974 semapv:UnspecifiedMatching +OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:8086 semapv:UnspecifiedMatching +OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:OAS1 semapv:UnspecifiedMatching +OMIM:164350 OAS1 skos:exactMatch ncbigene:4938 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch UMLS:C1412647 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:823 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:ATP5F1A semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch ncbigene:498 semapv:UnspecifiedMatching +OMIM:164400 spinocerebellar ataxia 1 skos:exactMatch MONDO:0008119 semapv:UnspecifiedMatching +OMIM:164500 spinocerebellar ataxia 7 skos:exactMatch MONDO:0016163 semapv:UnspecifiedMatching +OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch MONDO:0008121 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch UMLS:C0812381 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:77 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:ABL2 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch ncbigene:27 semapv:UnspecifiedMatching +OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:3488 semapv:UnspecifiedMatching +OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:ETS1 semapv:UnspecifiedMatching +OMIM:164720 ETS1 skos:exactMatch ncbigene:2113 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C0812228 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C3277233 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C3554519 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:391 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:AKT1 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch ncbigene:207 semapv:UnspecifiedMatching +OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:392 semapv:UnspecifiedMatching +OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:AKT2 semapv:UnspecifiedMatching +OMIM:164731 AKT2 skos:exactMatch ncbigene:208 semapv:UnspecifiedMatching +OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:3489 semapv:UnspecifiedMatching +OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:ETS2 semapv:UnspecifiedMatching +OMIM:164740 ETS2 skos:exactMatch ncbigene:2114 semapv:UnspecifiedMatching +OMIM:164745 omodysplasia 2 skos:exactMatch MONDO:0008123 semapv:UnspecifiedMatching +OMIM:164750 omphalocele, autosomal skos:exactMatch MONDO:0008124 semapv:UnspecifiedMatching +OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:12696 semapv:UnspecifiedMatching +OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:VIS1 semapv:UnspecifiedMatching +OMIM:164755 VIS1 skos:exactMatch ncbigene:7435 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C0812241 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C2674727 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3150970 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3150971 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3277236 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3836559 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch UMLS:C4016284 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch hgnc.symbol:1097 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch hgnc.symbol:BRAF semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch ncbigene:673 semapv:UnspecifiedMatching +OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:9829 semapv:UnspecifiedMatching +OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:RAF1 semapv:UnspecifiedMatching +OMIM:164760 RAF1 skos:exactMatch ncbigene:5894 semapv:UnspecifiedMatching +OMIM:164761 RET skos:exactMatch hgnc.symbol:9967 semapv:UnspecifiedMatching +OMIM:164761 RET skos:exactMatch hgnc.symbol:RET semapv:UnspecifiedMatching +OMIM:164761 RET skos:exactMatch ncbigene:5979 semapv:UnspecifiedMatching +OMIM:164762 CRK skos:exactMatch hgnc.symbol:2362 semapv:UnspecifiedMatching +OMIM:164762 CRK skos:exactMatch hgnc.symbol:CRK semapv:UnspecifiedMatching +OMIM:164762 CRK skos:exactMatch ncbigene:1398 semapv:UnspecifiedMatching +OMIM:164765 CTTN skos:exactMatch hgnc.symbol:3338 semapv:UnspecifiedMatching +OMIM:164765 CTTN skos:exactMatch hgnc.symbol:CTTN semapv:UnspecifiedMatching +OMIM:164765 CTTN skos:exactMatch ncbigene:2017 semapv:UnspecifiedMatching +OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:2433 semapv:UnspecifiedMatching +OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:CSF1R semapv:UnspecifiedMatching +OMIM:164770 CSF1R skos:exactMatch ncbigene:1436 semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch UMLS:C1333571 semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch hgnc.symbol:3797 semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch hgnc.symbol:FOSB semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch ncbigene:2354 semapv:UnspecifiedMatching +OMIM:164780 SKI skos:exactMatch hgnc.symbol:10896 semapv:UnspecifiedMatching +OMIM:164780 SKI skos:exactMatch hgnc.symbol:SKI semapv:UnspecifiedMatching +OMIM:164780 SKI skos:exactMatch ncbigene:6497 semapv:UnspecifiedMatching +OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:6973 semapv:UnspecifiedMatching +OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:MDM2 semapv:UnspecifiedMatching +OMIM:164785 MDM2 skos:exactMatch ncbigene:4193 semapv:UnspecifiedMatching +OMIM:164790 NRAS skos:exactMatch hgnc.symbol:7989 semapv:UnspecifiedMatching +OMIM:164790 NRAS skos:exactMatch hgnc.symbol:NRAS semapv:UnspecifiedMatching +OMIM:164790 NRAS skos:exactMatch ncbigene:4893 semapv:UnspecifiedMatching +OMIM:164795 OCM skos:exactMatch hgnc.symbol:8105 semapv:UnspecifiedMatching +OMIM:164795 OCM skos:exactMatch hgnc.symbol:OCM semapv:UnspecifiedMatching +OMIM:164795 OCM skos:exactMatch ncbigene:654231 semapv:UnspecifiedMatching +OMIM:164800 nail disorder, nonsyndromic congenital, 5 skos:exactMatch MONDO:0008125 semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch UMLS:C0087140 semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch hgnc.symbol:3796 semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch hgnc.symbol:FOS semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch ncbigene:2353 semapv:UnspecifiedMatching +OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:12774 semapv:UnspecifiedMatching +OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:WNT1 semapv:UnspecifiedMatching +OMIM:164820 WNT1 skos:exactMatch ncbigene:7471 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch UMLS:C1826623 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:1066 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:BMI1 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch ncbigene:648 semapv:UnspecifiedMatching +OMIM:164840 MYCN skos:exactMatch hgnc.symbol:7559 semapv:UnspecifiedMatching +OMIM:164840 MYCN skos:exactMatch hgnc.symbol:MYCN semapv:UnspecifiedMatching +OMIM:164840 MYCN skos:exactMatch ncbigene:4613 semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch UMLS:C0812289 semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch hgnc.symbol:7555 semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch hgnc.symbol:MYCL semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch ncbigene:4610 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C1336839 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C1417123 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C4016289 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C4016290 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C4084709 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch hgnc.symbol:7029 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch hgnc.symbol:MET semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch ncbigene:4233 semapv:UnspecifiedMatching +OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:3430 semapv:UnspecifiedMatching +OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:ERBB2 semapv:UnspecifiedMatching +OMIM:164870 ERBB2 skos:exactMatch ncbigene:2064 semapv:UnspecifiedMatching +OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:3492 semapv:UnspecifiedMatching +OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:ETV3 semapv:UnspecifiedMatching +OMIM:164873 ETV3 skos:exactMatch ncbigene:2117 semapv:UnspecifiedMatching +OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:3811 semapv:UnspecifiedMatching +OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:FOXG1 semapv:UnspecifiedMatching +OMIM:164874 FOXG1 skos:exactMatch ncbigene:2290 semapv:UnspecifiedMatching +OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:12657 semapv:UnspecifiedMatching +OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:VAV1 semapv:UnspecifiedMatching +OMIM:164875 VAV1 skos:exactMatch ncbigene:7409 semapv:UnspecifiedMatching +OMIM:164880 YES1 skos:exactMatch hgnc.symbol:12841 semapv:UnspecifiedMatching +OMIM:164880 YES1 skos:exactMatch hgnc.symbol:YES1 semapv:UnspecifiedMatching +OMIM:164880 YES1 skos:exactMatch ncbigene:7525 semapv:UnspecifiedMatching +OMIM:164891 skos:exactMatch MONDO:0008126 semapv:UnspecifiedMatching +OMIM:164900 ophthalmomandibulomelic dysplasia skos:exactMatch MONDO:0008127 semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch UMLS:C0035018 semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch hgnc.symbol:9954 semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch hgnc.symbol:REL semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch ncbigene:5966 semapv:UnspecifiedMatching +OMIM:164920 KIT skos:exactMatch hgnc.symbol:6342 semapv:UnspecifiedMatching +OMIM:164920 KIT skos:exactMatch hgnc.symbol:KIT semapv:UnspecifiedMatching +OMIM:164920 KIT skos:exactMatch ncbigene:3815 semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch UMLS:C0919478 semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch hgnc.symbol:3697 semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch hgnc.symbol:FGR semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch ncbigene:2268 semapv:UnspecifiedMatching +OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:3681 semapv:UnspecifiedMatching +OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:FGF3 semapv:UnspecifiedMatching +OMIM:164950 FGF3 skos:exactMatch ncbigene:2248 semapv:UnspecifiedMatching +OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:7884 semapv:UnspecifiedMatching +OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:NOTCH4 semapv:UnspecifiedMatching +OMIM:164951 NOTCH4 skos:exactMatch ncbigene:4855 semapv:UnspecifiedMatching +OMIM:164953 LPSA skos:exactMatch ncbigene:8177 semapv:UnspecifiedMatching +OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:7885 semapv:UnspecifiedMatching +OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:CCN3 semapv:UnspecifiedMatching +OMIM:164958 CCN3 skos:exactMatch ncbigene:4856 semapv:UnspecifiedMatching +OMIM:164960 PIM1 skos:exactMatch hgnc.symbol:8986 semapv:UnspecifiedMatching +OMIM:164960 PIM1 skos:exactMatch hgnc.symbol:PIM1 semapv:UnspecifiedMatching +OMIM:164960 PIM1 skos:exactMatch ncbigene:5292 semapv:UnspecifiedMatching +OMIM:164975 WNT5A skos:exactMatch hgnc.symbol:12784 semapv:UnspecifiedMatching +OMIM:164975 WNT5A skos:exactMatch hgnc.symbol:WNT5A semapv:UnspecifiedMatching +OMIM:164975 WNT5A skos:exactMatch ncbigene:7474 semapv:UnspecifiedMatching +OMIM:164980 FGF4 skos:exactMatch hgnc.symbol:3682 semapv:UnspecifiedMatching +OMIM:164980 FGF4 skos:exactMatch hgnc.symbol:FGF4 semapv:UnspecifiedMatching +OMIM:164980 FGF4 skos:exactMatch ncbigene:2249 semapv:UnspecifiedMatching +OMIM:165000 ophthalmoplegia, familial static skos:exactMatch MONDO:0008128 semapv:UnspecifiedMatching +OMIM:165020 ROS1 skos:exactMatch hgnc.symbol:10261 semapv:UnspecifiedMatching +OMIM:165020 ROS1 skos:exactMatch hgnc.symbol:ROS1 semapv:UnspecifiedMatching +OMIM:165020 ROS1 skos:exactMatch ncbigene:6098 semapv:UnspecifiedMatching +OMIM:165040 RAB8A skos:exactMatch hgnc.symbol:7007 semapv:UnspecifiedMatching +OMIM:165040 RAB8A skos:exactMatch hgnc.symbol:RAB8A semapv:UnspecifiedMatching +OMIM:165040 RAB8A skos:exactMatch ncbigene:4218 semapv:UnspecifiedMatching +OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:12348 semapv:UnspecifiedMatching +OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:TRU-TCA1-1 semapv:UnspecifiedMatching +OMIM:165060 TRU-TCA1-1 skos:exactMatch ncbigene:7234 semapv:UnspecifiedMatching +OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:3763 semapv:UnspecifiedMatching +OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:FLT1 semapv:UnspecifiedMatching +OMIM:165070 FLT1 skos:exactMatch ncbigene:2321 semapv:UnspecifiedMatching +OMIM:165080 ERG skos:exactMatch hgnc.symbol:3446 semapv:UnspecifiedMatching +OMIM:165080 ERG skos:exactMatch hgnc.symbol:ERG semapv:UnspecifiedMatching +OMIM:165080 ERG skos:exactMatch ncbigene:2078 semapv:UnspecifiedMatching +OMIM:165090 RRAS skos:exactMatch hgnc.symbol:10447 semapv:UnspecifiedMatching +OMIM:165090 RRAS skos:exactMatch hgnc.symbol:RRAS semapv:UnspecifiedMatching +OMIM:165090 RRAS skos:exactMatch ncbigene:6237 semapv:UnspecifiedMatching +OMIM:165095 OSM skos:exactMatch hgnc.symbol:8506 semapv:UnspecifiedMatching +OMIM:165095 OSM skos:exactMatch hgnc.symbol:OSM semapv:UnspecifiedMatching +OMIM:165095 OSM skos:exactMatch ncbigene:5008 semapv:UnspecifiedMatching +OMIM:165098 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch MONDO:0008129 semapv:UnspecifiedMatching +OMIM:165110 SEA skos:exactMatch hgnc.symbol:SEA semapv:UnspecifiedMatching +OMIM:165110 SEA skos:exactMatch ncbigene:6395 semapv:UnspecifiedMatching +OMIM:165120 LYN skos:exactMatch hgnc.symbol:6735 semapv:UnspecifiedMatching +OMIM:165120 LYN skos:exactMatch hgnc.symbol:LYN semapv:UnspecifiedMatching +OMIM:165120 LYN skos:exactMatch ncbigene:4067 semapv:UnspecifiedMatching +OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:9709 semapv:UnspecifiedMatching +OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:PVT1 semapv:UnspecifiedMatching +OMIM:165140 PVT1 skos:exactMatch ncbigene:5820 semapv:UnspecifiedMatching +OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency skos:exactMatch MONDO:0008130 semapv:UnspecifiedMatching +OMIM:165160 JUN skos:exactMatch hgnc.symbol:6204 semapv:UnspecifiedMatching +OMIM:165160 JUN skos:exactMatch hgnc.symbol:JUN semapv:UnspecifiedMatching +OMIM:165160 JUN skos:exactMatch ncbigene:3725 semapv:UnspecifiedMatching +OMIM:165161 JUNB skos:exactMatch hgnc.symbol:6205 semapv:UnspecifiedMatching +OMIM:165161 JUNB skos:exactMatch hgnc.symbol:JUNB semapv:UnspecifiedMatching +OMIM:165161 JUNB skos:exactMatch ncbigene:3726 semapv:UnspecifiedMatching +OMIM:165162 JUND skos:exactMatch hgnc.symbol:6206 semapv:UnspecifiedMatching +OMIM:165162 JUND skos:exactMatch hgnc.symbol:JUND semapv:UnspecifiedMatching +OMIM:165162 JUND skos:exactMatch ncbigene:3727 semapv:UnspecifiedMatching +OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:11241 semapv:UnspecifiedMatching +OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:SPI1 semapv:UnspecifiedMatching +OMIM:165170 SPI1 skos:exactMatch ncbigene:6688 semapv:UnspecifiedMatching +OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:6899 semapv:UnspecifiedMatching +OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:MAS1 semapv:UnspecifiedMatching +OMIM:165180 MAS1 skos:exactMatch ncbigene:4142 semapv:UnspecifiedMatching +OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:3683 semapv:UnspecifiedMatching +OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:FGF5 semapv:UnspecifiedMatching +OMIM:165190 FGF5 skos:exactMatch ncbigene:2250 semapv:UnspecifiedMatching +OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:8153 semapv:UnspecifiedMatching +OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:OPRD1 semapv:UnspecifiedMatching +OMIM:165195 OPRD1 skos:exactMatch ncbigene:4985 semapv:UnspecifiedMatching +OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:8154 semapv:UnspecifiedMatching +OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:OPRK1 semapv:UnspecifiedMatching +OMIM:165196 OPRK1 skos:exactMatch ncbigene:4986 semapv:UnspecifiedMatching +OMIM:165199 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch MONDO:0008131 semapv:UnspecifiedMatching +OMIM:165200 optic atrophy with demyelinating disease of cns skos:exactMatch MONDO:0008132 semapv:UnspecifiedMatching +OMIM:165215 MECOM skos:exactMatch hgnc.symbol:3498 semapv:UnspecifiedMatching +OMIM:165215 MECOM skos:exactMatch hgnc.symbol:MECOM semapv:UnspecifiedMatching +OMIM:165215 MECOM skos:exactMatch ncbigene:2122 semapv:UnspecifiedMatching +OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:4317 semapv:UnspecifiedMatching +OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:GLI1 semapv:UnspecifiedMatching +OMIM:165220 GLI1 skos:exactMatch ncbigene:2735 semapv:UnspecifiedMatching +OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:4318 semapv:UnspecifiedMatching +OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:GLI2 semapv:UnspecifiedMatching +OMIM:165230 GLI2 skos:exactMatch ncbigene:2736 semapv:UnspecifiedMatching +OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:4319 semapv:UnspecifiedMatching +OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:GLI3 semapv:UnspecifiedMatching +OMIM:165240 GLI3 skos:exactMatch ncbigene:2737 semapv:UnspecifiedMatching +OMIM:165250 ZNF875 skos:exactMatch hgnc.symbol:4928 semapv:UnspecifiedMatching +OMIM:165250 ZNF875 skos:exactMatch hgnc.symbol:ZNF875 semapv:UnspecifiedMatching +OMIM:165250 ZNF875 skos:exactMatch ncbigene:284459 semapv:UnspecifiedMatching +OMIM:165260 ZSCAN22 skos:exactMatch hgnc.symbol:4929 semapv:UnspecifiedMatching +OMIM:165260 ZSCAN22 skos:exactMatch hgnc.symbol:ZSCAN22 semapv:UnspecifiedMatching +OMIM:165260 ZSCAN22 skos:exactMatch ncbigene:342945 semapv:UnspecifiedMatching +OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:4930 semapv:UnspecifiedMatching +OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:ZBTB48 semapv:UnspecifiedMatching +OMIM:165270 ZBTB48 skos:exactMatch ncbigene:3104 semapv:UnspecifiedMatching +OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:4320 semapv:UnspecifiedMatching +OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:GLI4 semapv:UnspecifiedMatching +OMIM:165280 GLI4 skos:exactMatch ncbigene:2738 semapv:UnspecifiedMatching +OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch MONDO:0008133 semapv:UnspecifiedMatching +OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch Orphanet:67036 semapv:UnspecifiedMatching +OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching +OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:12782 semapv:UnspecifiedMatching +OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:WNT3 semapv:UnspecifiedMatching +OMIM:165330 WNT3 skos:exactMatch ncbigene:7473 semapv:UnspecifiedMatching +OMIM:165340 SKIL skos:exactMatch hgnc.symbol:10897 semapv:UnspecifiedMatching +OMIM:165340 SKIL skos:exactMatch hgnc.symbol:SKIL semapv:UnspecifiedMatching +OMIM:165340 SKIL skos:exactMatch ncbigene:6498 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch UMLS:C0812242 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch UMLS:C4016300 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch UMLS:C4016301 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch hgnc.symbol:1541 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch hgnc.symbol:CBL semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch ncbigene:867 semapv:UnspecifiedMatching +OMIM:165370 RHOB skos:exactMatch hgnc.symbol:668 semapv:UnspecifiedMatching +OMIM:165370 RHOB skos:exactMatch hgnc.symbol:RHOB semapv:UnspecifiedMatching +OMIM:165370 RHOB skos:exactMatch ncbigene:388 semapv:UnspecifiedMatching +OMIM:165380 RHOC skos:exactMatch hgnc.symbol:669 semapv:UnspecifiedMatching +OMIM:165380 RHOC skos:exactMatch hgnc.symbol:RHOC semapv:UnspecifiedMatching +OMIM:165380 RHOC skos:exactMatch ncbigene:389 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch UMLS:C0812234 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch UMLS:C5231517 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch hgnc.symbol:667 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch hgnc.symbol:RHOA semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch ncbigene:387 semapv:UnspecifiedMatching +OMIM:165500 optic atrophy 1 skos:exactMatch MONDO:0008134 semapv:UnspecifiedMatching +OMIM:165500 optic atrophy 1 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching +OMIM:165500 optic atrophy 1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching +OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch MONDO:0008135 semapv:UnspecifiedMatching +OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching +OMIM:165550 optic nerve hypoplasia, bilateral skos:exactMatch MONDO:0008136 semapv:UnspecifiedMatching +OMIM:165590 orofaciodigital syndrome 10 skos:exactMatch MONDO:0008137 semapv:UnspecifiedMatching +OMIM:165600 orbital margin, hypoplasia of skos:exactMatch MONDO:0008138 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch UMLS:C1417932 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch UMLS:C1417933 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch UMLS:C5436942 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:8109 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:ODC1 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch ncbigene:4953 semapv:UnspecifiedMatching +OMIM:165660 oslam syndrome skos:exactMatch MONDO:0008139 semapv:UnspecifiedMatching +OMIM:165670 ossified ear cartilages skos:exactMatch MONDO:0008140 semapv:UnspecifiedMatching +OMIM:165680 ossicular malformations, familial skos:exactMatch MONDO:0008141 semapv:UnspecifiedMatching +OMIM:165700 thiemann disease skos:exactMatch MONDO:0008142 semapv:UnspecifiedMatching +OMIM:165720 osteoarthritis susceptibility 1 skos:exactMatch MONDO:0008143 semapv:UnspecifiedMatching +OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch MONDO:0100462 semapv:UnspecifiedMatching +OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:251262 semapv:UnspecifiedMatching +OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:435804 semapv:UnspecifiedMatching +OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch UMLS:C3665488 semapv:UnspecifiedMatching +OMIM:166000 enchondromatosis, multiple, ollier iia skos:exactMatch MONDO:0008145 semapv:UnspecifiedMatching +OMIM:166200 osteogenesis imperfecta, iia 1 skos:exactMatch MONDO:0008146 semapv:UnspecifiedMatching +OMIM:166210 osteogenesis imperfecta, iia 2 skos:exactMatch MONDO:0008147 semapv:UnspecifiedMatching +OMIM:166220 osteogenesis imperfecta, iia 4 skos:exactMatch MONDO:0008148 semapv:UnspecifiedMatching +OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures skos:exactMatch MONDO:0008149 semapv:UnspecifiedMatching +OMIM:166250 osteoglophonic dysplasia skos:exactMatch MONDO:0008150 semapv:UnspecifiedMatching +OMIM:166260 gnathodiaphyseal dysplasia skos:exactMatch MONDO:0008151 semapv:UnspecifiedMatching +OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch MONDO:0008152 semapv:UnspecifiedMatching +OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch Orphanet:2774 semapv:UnspecifiedMatching +OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching +OMIM:166350 osseous heteroplasia, progressive skos:exactMatch MONDO:0008153 semapv:UnspecifiedMatching +OMIM:166400 osteomas of mandible skos:exactMatch MONDO:0008154 semapv:UnspecifiedMatching +OMIM:166450 osteomesopyknosis skos:exactMatch MONDO:0008155 semapv:UnspecifiedMatching +OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:11255 semapv:UnspecifiedMatching +OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:SPP1 semapv:UnspecifiedMatching +OMIM:166490 SPP1 skos:exactMatch ncbigene:6696 semapv:UnspecifiedMatching +OMIM:166600 osteopetrosis, autosomal dominant 2 skos:exactMatch MONDO:0008156 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch MONDO:0008157 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:1306 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:166119 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching +OMIM:166705 osteopoikilosis and dacryocystitis skos:exactMatch MONDO:0008158 semapv:UnspecifiedMatching +OMIM:166710 osteoporosis skos:exactMatch MONDO:0005298 semapv:UnspecifiedMatching +OMIM:166740 osteosclerosis with ichthyosis and fractures skos:exactMatch MONDO:0008160 semapv:UnspecifiedMatching +OMIM:166750 otodental dysplasia skos:exactMatch MONDO:0008161 semapv:UnspecifiedMatching +OMIM:166760 otitis media, susceptibility to skos:exactMatch MONDO:0008162 semapv:UnspecifiedMatching +OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch MONDO:0024532 semapv:UnspecifiedMatching +OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching +OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch UMLS:C3714941 semapv:UnspecifiedMatching +OMIM:166800 otosclerosis 1 skos:exactMatch MONDO:0008164 semapv:UnspecifiedMatching +OMIM:166900 ovalocytosis, southeast asian skos:exactMatch MONDO:0008165 semapv:UnspecifiedMatching +OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch MONDO:0008166 semapv:UnspecifiedMatching +OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:6746 semapv:UnspecifiedMatching +OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:NBR1 semapv:UnspecifiedMatching +OMIM:166945 NBR1 skos:exactMatch ncbigene:4077 semapv:UnspecifiedMatching +OMIM:166950 teratoma, ovarian skos:exactMatch MONDO:0008167 semapv:UnspecifiedMatching +OMIM:166970 ovarian fibromata skos:exactMatch MONDO:0008168 semapv:UnspecifiedMatching +OMIM:166990 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch MONDO:0008169 semapv:UnspecifiedMatching +OMIM:167000 ovarian cancer skos:exactMatch MONDO:0008170 semapv:UnspecifiedMatching +OMIM:167030 nephrolithiasis, calcium oxalate, 1 skos:exactMatch MONDO:0020722 semapv:UnspecifiedMatching +OMIM:167040 OSBP skos:exactMatch hgnc.symbol:8503 semapv:UnspecifiedMatching +OMIM:167040 OSBP skos:exactMatch hgnc.symbol:OSBP semapv:UnspecifiedMatching +OMIM:167040 OSBP skos:exactMatch ncbigene:5007 semapv:UnspecifiedMatching +OMIM:167050 OXT skos:exactMatch hgnc.symbol:8528 semapv:UnspecifiedMatching +OMIM:167050 OXT skos:exactMatch hgnc.symbol:OXT semapv:UnspecifiedMatching +OMIM:167050 OXT skos:exactMatch ncbigene:5020 semapv:UnspecifiedMatching +OMIM:167055 OXTR skos:exactMatch hgnc.symbol:8529 semapv:UnspecifiedMatching +OMIM:167055 OXTR skos:exactMatch hgnc.symbol:OXTR semapv:UnspecifiedMatching +OMIM:167055 OXTR skos:exactMatch ncbigene:5021 semapv:UnspecifiedMatching +OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch MONDO:0008172 semapv:UnspecifiedMatching +OMIM:167200 pachyonychia congenita 1 skos:exactMatch MONDO:0008173 semapv:UnspecifiedMatching +OMIM:167200 pachyonychia congenita 1 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +OMIM:167200 pachyonychia congenita 1 skos:exactMatch UMLS:C1706595 semapv:UnspecifiedMatching +OMIM:167210 pachyonychia congenita 2 skos:exactMatch MONDO:0008174 semapv:UnspecifiedMatching +OMIM:167220 pacman dysplasia skos:exactMatch MONDO:0008175 semapv:UnspecifiedMatching +OMIM:167250 paget disease of bone 3 skos:exactMatch MONDO:0008176 semapv:UnspecifiedMatching +OMIM:167300 paget disease, extramammary skos:exactMatch MONDO:0008177 semapv:UnspecifiedMatching +OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch MONDO:0008178 semapv:UnspecifiedMatching +OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch Orphanet:52430 semapv:UnspecifiedMatching +OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching +OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C4551951 semapv:UnspecifiedMatching +OMIM:167400 paroxysmal extreme pain disorder skos:exactMatch MONDO:0008179 semapv:UnspecifiedMatching +OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:8569 semapv:UnspecifiedMatching +OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:PCSK6 semapv:UnspecifiedMatching +OMIM:167405 PCSK6 skos:exactMatch ncbigene:5046 semapv:UnspecifiedMatching +OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:8616 semapv:UnspecifiedMatching +OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:PAX2 semapv:UnspecifiedMatching +OMIM:167409 PAX2 skos:exactMatch ncbigene:5076 semapv:UnspecifiedMatching +OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:8621 semapv:UnspecifiedMatching +OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:PAX7 semapv:UnspecifiedMatching +OMIM:167410 PAX7 skos:exactMatch ncbigene:5081 semapv:UnspecifiedMatching +OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:8615 semapv:UnspecifiedMatching +OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:PAX1 semapv:UnspecifiedMatching +OMIM:167411 PAX1 skos:exactMatch ncbigene:5075 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch UMLS:C1418275 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch UMLS:C2677132 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch UMLS:C4016306 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:8618 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:PAX4 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch ncbigene:5078 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch UMLS:C1335193 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch UMLS:C3809874 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:8619 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:PAX5 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch ncbigene:5079 semapv:UnspecifiedMatching +OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:8622 semapv:UnspecifiedMatching +OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:PAX8 semapv:UnspecifiedMatching +OMIM:167415 PAX8 skos:exactMatch ncbigene:7849 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch UMLS:C1418278 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch UMLS:C1970291 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:8623 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:PAX9 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch ncbigene:5083 semapv:UnspecifiedMatching +OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:9142 semapv:UnspecifiedMatching +OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:PRRX1 semapv:UnspecifiedMatching +OMIM:167420 PRRX1 skos:exactMatch ncbigene:5396 semapv:UnspecifiedMatching +OMIM:167500 palatopharyngeal incompetence skos:exactMatch MONDO:0008180 semapv:UnspecifiedMatching +OMIM:167600 palmaris longus muscle, absence of skos:exactMatch MONDO:0008181 semapv:UnspecifiedMatching +OMIM:167700 palmomental reflex skos:exactMatch MONDO:0044247 semapv:UnspecifiedMatching +OMIM:167730 nasopalpebral lipoma-coloboma syndrome skos:exactMatch MONDO:0008182 semapv:UnspecifiedMatching +OMIM:167750 pancreas, annular skos:exactMatch MONDO:0008183 semapv:UnspecifiedMatching +OMIM:167755 pancreas, dorsal, agenesis of skos:exactMatch MONDO:0008184 semapv:UnspecifiedMatching +OMIM:167770 REG1A skos:exactMatch hgnc.symbol:9951 semapv:UnspecifiedMatching +OMIM:167770 REG1A skos:exactMatch hgnc.symbol:REG1A semapv:UnspecifiedMatching +OMIM:167770 REG1A skos:exactMatch ncbigene:5967 semapv:UnspecifiedMatching +OMIM:167771 REG1B skos:exactMatch hgnc.symbol:9952 semapv:UnspecifiedMatching +OMIM:167771 REG1B skos:exactMatch hgnc.symbol:REG1B semapv:UnspecifiedMatching +OMIM:167771 REG1B skos:exactMatch ncbigene:5968 semapv:UnspecifiedMatching +OMIM:167780 PPY skos:exactMatch hgnc.symbol:9327 semapv:UnspecifiedMatching +OMIM:167780 PPY skos:exactMatch hgnc.symbol:PPY semapv:UnspecifiedMatching +OMIM:167780 PPY skos:exactMatch ncbigene:5539 semapv:UnspecifiedMatching +OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:11244 semapv:UnspecifiedMatching +OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:SPINK1 semapv:UnspecifiedMatching +OMIM:167790 SPINK1 skos:exactMatch ncbigene:6690 semapv:UnspecifiedMatching +OMIM:167800 pancreatitis, hereditary skos:exactMatch MONDO:0008185 semapv:UnspecifiedMatching +OMIM:167800 pancreatitis, hereditary skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching +OMIM:167800 pancreatitis, hereditary skos:exactMatch UMLS:C0238339 semapv:UnspecifiedMatching +OMIM:167805 REG3A skos:exactMatch hgnc.symbol:8601 semapv:UnspecifiedMatching +OMIM:167805 REG3A skos:exactMatch hgnc.symbol:REG3A semapv:UnspecifiedMatching +OMIM:167805 REG3A skos:exactMatch ncbigene:5068 semapv:UnspecifiedMatching +OMIM:167850 pancytopenia and occlusive vascular disease skos:exactMatch MONDO:0008186 semapv:UnspecifiedMatching +OMIM:167870 panic disorder 1 skos:exactMatch MONDO:0008187 semapv:UnspecifiedMatching +OMIM:167900 papillomatosis, confluent and reticulated skos:exactMatch MONDO:0008188 semapv:UnspecifiedMatching +OMIM:167950 papillomatosis, florid, of nipple skos:exactMatch MONDO:0008189 semapv:UnspecifiedMatching +OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch MONDO:0008190 semapv:UnspecifiedMatching +OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:5166 semapv:UnspecifiedMatching +OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:HPV18I1 semapv:UnspecifiedMatching +OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch MONDO:0008191 semapv:UnspecifiedMatching +OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:5167 semapv:UnspecifiedMatching +OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:HPV18I2 semapv:UnspecifiedMatching +OMIM:168000 pheochromocytoma/paraganglioma syndrome 1 skos:exactMatch MONDO:0008192 semapv:UnspecifiedMatching +OMIM:168100 paralysis agitans, juvenile, of hunt skos:exactMatch MONDO:0008193 semapv:UnspecifiedMatching +OMIM:168200 paramolar tubercle of bolk skos:exactMatch MONDO:0008194 semapv:UnspecifiedMatching +OMIM:168300 paramyotonia congenita skos:exactMatch MONDO:0008195 semapv:UnspecifiedMatching +OMIM:168360 ELAVL4 skos:exactMatch UMLS:C1414374 semapv:UnspecifiedMatching +OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:3315 semapv:UnspecifiedMatching +OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:ELAVL4 semapv:UnspecifiedMatching +OMIM:168360 ELAVL4 skos:exactMatch ncbigene:1996 semapv:UnspecifiedMatching +OMIM:168400 parastremmatic dwarfism skos:exactMatch MONDO:0008196 semapv:UnspecifiedMatching +OMIM:168440 PTMS skos:exactMatch hgnc.symbol:9629 semapv:UnspecifiedMatching +OMIM:168440 PTMS skos:exactMatch hgnc.symbol:PTMS semapv:UnspecifiedMatching +OMIM:168440 PTMS skos:exactMatch ncbigene:5763 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch UMLS:C0221002 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch UMLS:C1419072 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch hgnc.symbol:9606 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch hgnc.symbol:PTH semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch ncbigene:5741 semapv:UnspecifiedMatching +OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:1582 semapv:UnspecifiedMatching +OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:CCND1 semapv:UnspecifiedMatching +OMIM:168461 CCND1 skos:exactMatch ncbigene:595 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C0265295 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C1419073 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch UMLS:C1859148 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:9608 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:PTH1R semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch ncbigene:5745 semapv:UnspecifiedMatching +OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:9607 semapv:UnspecifiedMatching +OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:PTHLH semapv:UnspecifiedMatching +OMIM:168470 PTHLH skos:exactMatch ncbigene:5744 semapv:UnspecifiedMatching +OMIM:168500 parietal foramina 1 skos:exactMatch MONDO:0008197 semapv:UnspecifiedMatching +OMIM:168550 parietal foramina with cleidocranial dysplasia skos:exactMatch MONDO:0008198 semapv:UnspecifiedMatching +OMIM:168600 parkinson disease, late-onset skos:exactMatch MONDO:0008199 semapv:UnspecifiedMatching +OMIM:168600 parkinson disease, late-onset skos:exactMatch UMLS:C3160718 semapv:UnspecifiedMatching +OMIM:168601 parkinson disease 1, autosomal dominant skos:exactMatch MONDO:0008200 semapv:UnspecifiedMatching +OMIM:168605 perry syndrome skos:exactMatch MONDO:0008201 semapv:UnspecifiedMatching +OMIM:168605 perry syndrome skos:exactMatch Orphanet:178509 semapv:UnspecifiedMatching +OMIM:168605 perry syndrome skos:exactMatch UMLS:C1868594 semapv:UnspecifiedMatching +OMIM:168730 PRH1 skos:exactMatch hgnc.symbol:9366 semapv:UnspecifiedMatching +OMIM:168730 PRH1 skos:exactMatch hgnc.symbol:PRH1 semapv:UnspecifiedMatching +OMIM:168730 PRH1 skos:exactMatch ncbigene:5554 semapv:UnspecifiedMatching +OMIM:168790 PRH2 skos:exactMatch hgnc.symbol:9367 semapv:UnspecifiedMatching +OMIM:168790 PRH2 skos:exactMatch hgnc.symbol:PRH2 semapv:UnspecifiedMatching +OMIM:168790 PRH2 skos:exactMatch ncbigene:5555 semapv:UnspecifiedMatching +OMIM:168800 parotidomegaly, hereditary bilateral skos:exactMatch MONDO:0008202 semapv:UnspecifiedMatching +OMIM:168810 PRB2 skos:exactMatch hgnc.symbol:9338 semapv:UnspecifiedMatching +OMIM:168810 PRB2 skos:exactMatch hgnc.symbol:PRB2 semapv:UnspecifiedMatching +OMIM:168810 PRB2 skos:exactMatch ncbigene:653247 semapv:UnspecifiedMatching +OMIM:168820 PON1 skos:exactMatch hgnc.symbol:9204 semapv:UnspecifiedMatching +OMIM:168820 PON1 skos:exactMatch hgnc.symbol:PON1 semapv:UnspecifiedMatching +OMIM:168820 PON1 skos:exactMatch ncbigene:5444 semapv:UnspecifiedMatching +OMIM:168830 passovoy factor defect skos:exactMatch MONDO:0008203 semapv:UnspecifiedMatching +OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:9339 semapv:UnspecifiedMatching +OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:PRB3 semapv:UnspecifiedMatching +OMIM:168840 PRB3 skos:exactMatch ncbigene:5544 semapv:UnspecifiedMatching +OMIM:168850 skos:exactMatch MONDO:0008204 semapv:UnspecifiedMatching +OMIM:168860 patella aplasia-hypoplasia skos:exactMatch MONDO:0008205 semapv:UnspecifiedMatching +OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia skos:exactMatch MONDO:0008206 semapv:UnspecifiedMatching +OMIM:168890 PVALB skos:exactMatch hgnc.symbol:9704 semapv:UnspecifiedMatching +OMIM:168890 PVALB skos:exactMatch hgnc.symbol:PVALB semapv:UnspecifiedMatching +OMIM:168890 PVALB skos:exactMatch ncbigene:5816 semapv:UnspecifiedMatching +OMIM:168900 patella, chondromalacia of skos:exactMatch MONDO:0008207 semapv:UnspecifiedMatching +OMIM:169000 patella, familial recurrent dislocation of skos:exactMatch MONDO:0008208 semapv:UnspecifiedMatching +OMIM:169100 char syndrome skos:exactMatch MONDO:0008209 semapv:UnspecifiedMatching +OMIM:169150 macular dystrophy, patterned, 1 skos:exactMatch MONDO:0008210 semapv:UnspecifiedMatching +OMIM:169170 patterson pseudoleprechaunism syndrome skos:exactMatch MONDO:0008211 semapv:UnspecifiedMatching +OMIM:169190 CDK18 skos:exactMatch hgnc.symbol:8751 semapv:UnspecifiedMatching +OMIM:169190 CDK18 skos:exactMatch hgnc.symbol:CDK18 semapv:UnspecifiedMatching +OMIM:169190 CDK18 skos:exactMatch ncbigene:5129 semapv:UnspecifiedMatching +OMIM:169200 pechet factor deficiency skos:exactMatch MONDO:0008212 semapv:UnspecifiedMatching +OMIM:169300 pectus excavatum skos:exactMatch MONDO:0008213 semapv:UnspecifiedMatching +OMIM:169400 pelger-huet anomaly skos:exactMatch MONDO:0008214 semapv:UnspecifiedMatching +OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant skos:exactMatch MONDO:0008215 semapv:UnspecifiedMatching +OMIM:169545 pelvic lipomatosis with crossed renal ectopia skos:exactMatch MONDO:0008216 semapv:UnspecifiedMatching +OMIM:169550 pelvis-shoulder dysplasia skos:exactMatch MONDO:0008217 semapv:UnspecifiedMatching +OMIM:169600 hailey-hailey disease skos:exactMatch MONDO:0008218 semapv:UnspecifiedMatching +OMIM:169610 pemphigus vulgaris, familial skos:exactMatch MONDO:0008219 semapv:UnspecifiedMatching +OMIM:169615 DSG3 skos:exactMatch hgnc.symbol:3050 semapv:UnspecifiedMatching +OMIM:169615 DSG3 skos:exactMatch hgnc.symbol:DSG3 semapv:UnspecifiedMatching +OMIM:169615 DSG3 skos:exactMatch ncbigene:1830 semapv:UnspecifiedMatching +OMIM:169710 pepsinogen 3, group 1 skos:exactMatch MONDO:0008220 semapv:UnspecifiedMatching +OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc.symbol:8885 semapv:UnspecifiedMatching +OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc.symbol:PGA3 semapv:UnspecifiedMatching +OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:8886 semapv:UnspecifiedMatching +OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:PGA4 semapv:UnspecifiedMatching +OMIM:169720 PGA4 skos:exactMatch ncbigene:643847 semapv:UnspecifiedMatching +OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:8887 semapv:UnspecifiedMatching +OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:PGA5 semapv:UnspecifiedMatching +OMIM:169730 PGA5 skos:exactMatch ncbigene:5222 semapv:UnspecifiedMatching +OMIM:169740 PGC skos:exactMatch hgnc.symbol:8890 semapv:UnspecifiedMatching +OMIM:169740 PGC skos:exactMatch hgnc.symbol:PGC semapv:UnspecifiedMatching +OMIM:169740 PGC skos:exactMatch ncbigene:5225 semapv:UnspecifiedMatching +OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:24437 semapv:UnspecifiedMatching +OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:CNDP2 semapv:UnspecifiedMatching +OMIM:169800 CNDP2 skos:exactMatch ncbigene:55748 semapv:UnspecifiedMatching +OMIM:169900 PEPB skos:exactMatch hgnc.symbol:8838 semapv:UnspecifiedMatching +OMIM:169900 PEPB skos:exactMatch hgnc.symbol:PEPB semapv:UnspecifiedMatching +OMIM:169900 PEPB skos:exactMatch ncbigene:5182 semapv:UnspecifiedMatching +OMIM:170000 PEPC skos:exactMatch hgnc.symbol:8839 semapv:UnspecifiedMatching +OMIM:170000 PEPC skos:exactMatch hgnc.symbol:PEPC semapv:UnspecifiedMatching +OMIM:170000 PEPC skos:exactMatch ncbigene:5183 semapv:UnspecifiedMatching +OMIM:170100 prolidase deficiency skos:exactMatch MONDO:0008221 semapv:UnspecifiedMatching +OMIM:170200 PEPE skos:exactMatch hgnc.symbol:8841 semapv:UnspecifiedMatching +OMIM:170200 PEPE skos:exactMatch hgnc.symbol:PEPE semapv:UnspecifiedMatching +OMIM:170200 PEPE skos:exactMatch ncbigene:5185 semapv:UnspecifiedMatching +OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:18449 semapv:UnspecifiedMatching +OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:LAP3 semapv:UnspecifiedMatching +OMIM:170250 LAP3 skos:exactMatch ncbigene:51056 semapv:UnspecifiedMatching +OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:43 semapv:UnspecifiedMatching +OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:TAP1 semapv:UnspecifiedMatching +OMIM:170260 TAP1 skos:exactMatch ncbigene:6890 semapv:UnspecifiedMatching +OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:44 semapv:UnspecifiedMatching +OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:TAP2 semapv:UnspecifiedMatching +OMIM:170261 TAP2 skos:exactMatch ncbigene:6891 semapv:UnspecifiedMatching +OMIM:170270 PAM skos:exactMatch hgnc.symbol:8596 semapv:UnspecifiedMatching +OMIM:170270 PAM skos:exactMatch hgnc.symbol:PAM semapv:UnspecifiedMatching +OMIM:170270 PAM skos:exactMatch ncbigene:5066 semapv:UnspecifiedMatching +OMIM:170280 PRF1 skos:exactMatch hgnc.symbol:9360 semapv:UnspecifiedMatching +OMIM:170280 PRF1 skos:exactMatch hgnc.symbol:PRF1 semapv:UnspecifiedMatching +OMIM:170280 PRF1 skos:exactMatch ncbigene:5551 semapv:UnspecifiedMatching +OMIM:170285 NUP85 skos:exactMatch hgnc.symbol:8734 semapv:UnspecifiedMatching +OMIM:170285 NUP85 skos:exactMatch hgnc.symbol:NUP85 semapv:UnspecifiedMatching +OMIM:170285 NUP85 skos:exactMatch ncbigene:79902 semapv:UnspecifiedMatching +OMIM:170290 PLIN1 skos:exactMatch hgnc.symbol:9076 semapv:UnspecifiedMatching +OMIM:170290 PLIN1 skos:exactMatch hgnc.symbol:PLIN1 semapv:UnspecifiedMatching +OMIM:170290 PLIN1 skos:exactMatch ncbigene:5346 semapv:UnspecifiedMatching +OMIM:170390 andersen cardiodysrhythmic periodic paralysis skos:exactMatch MONDO:0008222 semapv:UnspecifiedMatching +OMIM:170400 hypokalemic periodic paralysis, iia 1 skos:exactMatch MONDO:0042979 semapv:UnspecifiedMatching +OMIM:170500 hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 semapv:UnspecifiedMatching +OMIM:170600 normokalemic periodic paralysis skos:exactMatch MONDO:0008225 semapv:UnspecifiedMatching +OMIM:170650 periodontitis, aggressive, 1 skos:exactMatch MONDO:0008226 semapv:UnspecifiedMatching +OMIM:170700 peripheral dysostosis skos:exactMatch MONDO:0008227 semapv:UnspecifiedMatching +OMIM:170710 PRPH skos:exactMatch hgnc.symbol:9461 semapv:UnspecifiedMatching +OMIM:170710 PRPH skos:exactMatch hgnc.symbol:PRPH semapv:UnspecifiedMatching +OMIM:170710 PRPH skos:exactMatch ncbigene:5630 semapv:UnspecifiedMatching +OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:9117 semapv:UnspecifiedMatching +OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:PMP2 semapv:UnspecifiedMatching +OMIM:170715 PMP2 skos:exactMatch ncbigene:5375 semapv:UnspecifiedMatching +OMIM:170900 pernicious anemia skos:exactMatch MONDO:0008228 semapv:UnspecifiedMatching +OMIM:170980 peroneal nerve, accessory deep skos:exactMatch MONDO:0008229 semapv:UnspecifiedMatching +OMIM:170990 peroxidase, salivary skos:exactMatch MONDO:0008230 semapv:UnspecifiedMatching +OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:9717 semapv:UnspecifiedMatching +OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:PEX2 semapv:UnspecifiedMatching +OMIM:170993 PEX2 skos:exactMatch ncbigene:5828 semapv:UnspecifiedMatching +OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:67 semapv:UnspecifiedMatching +OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:ABCD3 semapv:UnspecifiedMatching +OMIM:170995 ABCD3 skos:exactMatch ncbigene:5825 semapv:UnspecifiedMatching +OMIM:170998 PPARA skos:exactMatch hgnc.symbol:9232 semapv:UnspecifiedMatching +OMIM:170998 PPARA skos:exactMatch hgnc.symbol:PPARA semapv:UnspecifiedMatching +OMIM:170998 PPARA skos:exactMatch ncbigene:5465 semapv:UnspecifiedMatching +OMIM:171000 peyronie disease skos:exactMatch MONDO:0008231 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch UMLS:C0376622 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch UMLS:C1861502 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch UMLS:C4016315 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch UMLS:C4016316 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch hgnc.symbol:40 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch hgnc.symbol:ABCB1 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch ncbigene:5243 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch UMLS:C1412071 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch UMLS:C1865643 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch UMLS:C3550019 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:45 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:ABCB4 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch ncbigene:5244 semapv:UnspecifiedMatching +OMIM:171100 phagocytosis, plasma-related defect 1n skos:exactMatch MONDO:0008232 semapv:UnspecifiedMatching +OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:11453 semapv:UnspecifiedMatching +OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:SULT1A1 semapv:UnspecifiedMatching +OMIM:171150 SULT1A1 skos:exactMatch ncbigene:6817 semapv:UnspecifiedMatching +OMIM:171190 PNMT skos:exactMatch hgnc.symbol:9160 semapv:UnspecifiedMatching +OMIM:171190 PNMT skos:exactMatch hgnc.symbol:PNMT semapv:UnspecifiedMatching +OMIM:171190 PNMT skos:exactMatch ncbigene:5409 semapv:UnspecifiedMatching +OMIM:171200 thiourea tasting skos:exactMatch MONDO:0044248 semapv:UnspecifiedMatching +OMIM:171300 pheochromocytoma skos:exactMatch MONDO:0008233 semapv:UnspecifiedMatching +OMIM:171300 pheochromocytoma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching +OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching +OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching +OMIM:171400 multiple endocrine neoplasia, iia 2a skos:exactMatch MONDO:0008234 semapv:UnspecifiedMatching +OMIM:171420 pheochromocytoma--islet cell tumor syndrome skos:exactMatch MONDO:0008235 semapv:UnspecifiedMatching +OMIM:171450 phlebectasia of lips skos:exactMatch MONDO:0008236 semapv:UnspecifiedMatching +OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia skos:exactMatch MONDO:0008237 semapv:UnspecifiedMatching +OMIM:171490 PDC skos:exactMatch hgnc.symbol:8759 semapv:UnspecifiedMatching +OMIM:171490 PDC skos:exactMatch hgnc.symbol:PDC semapv:UnspecifiedMatching +OMIM:171490 PDC skos:exactMatch ncbigene:5132 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch UMLS:C1412131 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch UMLS:C4016317 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:122 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:ACP1 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch ncbigene:52 semapv:UnspecifiedMatching +OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:124 semapv:UnspecifiedMatching +OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:ACP5 semapv:UnspecifiedMatching +OMIM:171640 ACP5 skos:exactMatch ncbigene:54 semapv:UnspecifiedMatching +OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:123 semapv:UnspecifiedMatching +OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:ACP2 semapv:UnspecifiedMatching +OMIM:171650 ACP2 skos:exactMatch ncbigene:53 semapv:UnspecifiedMatching +OMIM:171660 phosphatase, acid, of tissues skos:exactMatch MONDO:0008238 semapv:UnspecifiedMatching +OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch MONDO:0044249 semapv:UnspecifiedMatching +OMIM:171740 ALPI skos:exactMatch hgnc.symbol:437 semapv:UnspecifiedMatching +OMIM:171740 ALPI skos:exactMatch hgnc.symbol:ALPI semapv:UnspecifiedMatching +OMIM:171740 ALPI skos:exactMatch ncbigene:248 semapv:UnspecifiedMatching +OMIM:171760 ALPL skos:exactMatch hgnc.symbol:438 semapv:UnspecifiedMatching +OMIM:171760 ALPL skos:exactMatch hgnc.symbol:ALPL semapv:UnspecifiedMatching +OMIM:171760 ALPL skos:exactMatch ncbigene:249 semapv:UnspecifiedMatching +OMIM:171790 ACPP skos:exactMatch hgnc.symbol:125 semapv:UnspecifiedMatching +OMIM:171790 ACPP skos:exactMatch hgnc.symbol:ACP3 semapv:UnspecifiedMatching +OMIM:171790 ACPP skos:exactMatch ncbigene:55 semapv:UnspecifiedMatching +OMIM:171800 ALPP skos:exactMatch hgnc.symbol:439 semapv:UnspecifiedMatching +OMIM:171800 ALPP skos:exactMatch hgnc.symbol:ALPP semapv:UnspecifiedMatching +OMIM:171800 ALPP skos:exactMatch ncbigene:250 semapv:UnspecifiedMatching +OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:441 semapv:UnspecifiedMatching +OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:ALPG semapv:UnspecifiedMatching +OMIM:171810 ALPPL2 skos:exactMatch ncbigene:251 semapv:UnspecifiedMatching +OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:8979 semapv:UnspecifiedMatching +OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:PIK3R1 semapv:UnspecifiedMatching +OMIM:171833 PIK3R1 skos:exactMatch ncbigene:5295 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C1335212 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C1868358 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C1969389 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674643 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C3550023 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C3550024 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C3554518 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749056 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749057 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:8975 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:PIK3CA semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch ncbigene:5290 semapv:UnspecifiedMatching +OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:8873 semapv:UnspecifiedMatching +OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:PFKFB2 semapv:UnspecifiedMatching +OMIM:171835 PFKFB2 skos:exactMatch ncbigene:5208 semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch UMLS:C1418493 semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch hgnc.symbol:8878 semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch hgnc.symbol:PFKP semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch ncbigene:5214 semapv:UnspecifiedMatching +OMIM:171860 PFKL skos:exactMatch hgnc.symbol:8876 semapv:UnspecifiedMatching +OMIM:171860 PFKL skos:exactMatch hgnc.symbol:PFKL semapv:UnspecifiedMatching +OMIM:171860 PFKL skos:exactMatch ncbigene:5211 semapv:UnspecifiedMatching +OMIM:171885 PDE7A skos:exactMatch UMLS:C1418431 semapv:UnspecifiedMatching +OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:8791 semapv:UnspecifiedMatching +OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:PDE7A semapv:UnspecifiedMatching +OMIM:171885 PDE7A skos:exactMatch ncbigene:5150 semapv:UnspecifiedMatching +OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:8774 semapv:UnspecifiedMatching +OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:PDE1A semapv:UnspecifiedMatching +OMIM:171890 PDE1A skos:exactMatch ncbigene:5136 semapv:UnspecifiedMatching +OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:8775 semapv:UnspecifiedMatching +OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:PDE1B semapv:UnspecifiedMatching +OMIM:171891 PDE1B skos:exactMatch ncbigene:5153 semapv:UnspecifiedMatching +OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:8905 semapv:UnspecifiedMatching +OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:PGM1 semapv:UnspecifiedMatching +OMIM:171900 PGM1 skos:exactMatch ncbigene:5236 semapv:UnspecifiedMatching +OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:8906 semapv:UnspecifiedMatching +OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:PGM2 semapv:UnspecifiedMatching +OMIM:172000 PGM2 skos:exactMatch ncbigene:55276 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch UMLS:C1418518 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:8907 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:PGM3 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch ncbigene:5238 semapv:UnspecifiedMatching +OMIM:172110 phosphoglucomutase 4 skos:exactMatch MONDO:0008239 semapv:UnspecifiedMatching +OMIM:172150 6-phosphogluconolactonase deficiency skos:exactMatch MONDO:0008240 semapv:UnspecifiedMatching +OMIM:172200 PGD skos:exactMatch hgnc.symbol:8891 semapv:UnspecifiedMatching +OMIM:172200 PGD skos:exactMatch hgnc.symbol:PGD semapv:UnspecifiedMatching +OMIM:172200 PGD skos:exactMatch ncbigene:5226 semapv:UnspecifiedMatching +OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:8888 semapv:UnspecifiedMatching +OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:PGAM1 semapv:UnspecifiedMatching +OMIM:172250 PGAM1 skos:exactMatch ncbigene:5223 semapv:UnspecifiedMatching +OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:8898 semapv:UnspecifiedMatching +OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:PGK2 semapv:UnspecifiedMatching +OMIM:172270 PGK2 skos:exactMatch ncbigene:5232 semapv:UnspecifiedMatching +OMIM:172280 PGP skos:exactMatch hgnc.symbol:8909 semapv:UnspecifiedMatching +OMIM:172280 PGP skos:exactMatch hgnc.symbol:PGP semapv:UnspecifiedMatching +OMIM:172280 PGP skos:exactMatch ncbigene:283871 semapv:UnspecifiedMatching +OMIM:172290 phosphoglycoprotein 1 skos:exactMatch MONDO:0008241 semapv:UnspecifiedMatching +OMIM:172400 GPI skos:exactMatch hgnc.symbol:4458 semapv:UnspecifiedMatching +OMIM:172400 GPI skos:exactMatch hgnc.symbol:GPI semapv:UnspecifiedMatching +OMIM:172400 GPI skos:exactMatch ncbigene:2821 semapv:UnspecifiedMatching +OMIM:172405 PLN skos:exactMatch hgnc.symbol:9080 semapv:UnspecifiedMatching +OMIM:172405 PLN skos:exactMatch hgnc.symbol:PLN semapv:UnspecifiedMatching +OMIM:172405 PLN skos:exactMatch ncbigene:5350 semapv:UnspecifiedMatching +OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:9030 semapv:UnspecifiedMatching +OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:PLA2G1B semapv:UnspecifiedMatching +OMIM:172410 PLA2G1B skos:exactMatch ncbigene:5319 semapv:UnspecifiedMatching +OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:9031 semapv:UnspecifiedMatching +OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:PLA2G2A semapv:UnspecifiedMatching +OMIM:172411 PLA2G2A skos:exactMatch ncbigene:5320 semapv:UnspecifiedMatching +OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:9065 semapv:UnspecifiedMatching +OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:PLCG1 semapv:UnspecifiedMatching +OMIM:172420 PLCG1 skos:exactMatch ncbigene:5335 semapv:UnspecifiedMatching +OMIM:172425 PLTP skos:exactMatch hgnc.symbol:9093 semapv:UnspecifiedMatching +OMIM:172425 PLTP skos:exactMatch hgnc.symbol:PLTP semapv:UnspecifiedMatching +OMIM:172425 PLTP skos:exactMatch ncbigene:5360 semapv:UnspecifiedMatching +OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:3350 semapv:UnspecifiedMatching +OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:ENO1 semapv:UnspecifiedMatching +OMIM:172430 ENO1 skos:exactMatch ncbigene:2023 semapv:UnspecifiedMatching +OMIM:172439 PAICS skos:exactMatch hgnc.symbol:8587 semapv:UnspecifiedMatching +OMIM:172439 PAICS skos:exactMatch hgnc.symbol:PAICS semapv:UnspecifiedMatching +OMIM:172439 PAICS skos:exactMatch ncbigene:10606 semapv:UnspecifiedMatching +OMIM:172450 PPAT skos:exactMatch hgnc.symbol:9238 semapv:UnspecifiedMatching +OMIM:172450 PPAT skos:exactMatch hgnc.symbol:PPAT semapv:UnspecifiedMatching +OMIM:172450 PPAT skos:exactMatch ncbigene:5471 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C1417420 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016262 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016322 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540543 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540670 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:7432 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:MTHFD1 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch ncbigene:4522 semapv:UnspecifiedMatching +OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:8930 semapv:UnspecifiedMatching +OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:PHKG1 semapv:UnspecifiedMatching +OMIM:172470 PHKG1 skos:exactMatch ncbigene:5260 semapv:UnspecifiedMatching +OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:8931 semapv:UnspecifiedMatching +OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:PHKG2 semapv:UnspecifiedMatching +OMIM:172471 PHKG2 skos:exactMatch ncbigene:5261 semapv:UnspecifiedMatching +OMIM:172480 PSPH skos:exactMatch hgnc.symbol:9577 semapv:UnspecifiedMatching +OMIM:172480 PSPH skos:exactMatch hgnc.symbol:PSPH semapv:UnspecifiedMatching +OMIM:172480 PSPH skos:exactMatch ncbigene:5723 semapv:UnspecifiedMatching +OMIM:172490 PHKB skos:exactMatch hgnc.symbol:8927 semapv:UnspecifiedMatching +OMIM:172490 PHKB skos:exactMatch hgnc.symbol:PHKB semapv:UnspecifiedMatching +OMIM:172490 PHKB skos:exactMatch ncbigene:5257 semapv:UnspecifiedMatching +OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch MONDO:0008242 semapv:UnspecifiedMatching +OMIM:172700 pick disease of brain skos:exactMatch MONDO:0008243 semapv:UnspecifiedMatching +OMIM:172800 piebald trait skos:exactMatch MONDO:0008244 semapv:UnspecifiedMatching +OMIM:172850 piebald trait with neurologic defects skos:exactMatch MONDO:0008245 semapv:UnspecifiedMatching +OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:8824 semapv:UnspecifiedMatching +OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:SERPINF1 semapv:UnspecifiedMatching +OMIM:172860 SERPINF1 skos:exactMatch ncbigene:5176 semapv:UnspecifiedMatching +OMIM:172870 pigmented paravenous chorioretinal atrophy skos:exactMatch MONDO:0008246 semapv:UnspecifiedMatching +OMIM:172880 pierre robin syndrome and oligodactyly skos:exactMatch MONDO:0008247 semapv:UnspecifiedMatching +OMIM:172900 pigmented purpuric eruption skos:exactMatch MONDO:0008248 semapv:UnspecifiedMatching +OMIM:173000 pilonidal sinus skos:exactMatch MONDO:0008249 semapv:UnspecifiedMatching +OMIM:173100 isolated growth hormone deficiency, iia 2 skos:exactMatch MONDO:0008250 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch UMLS:C1418759 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch UMLS:C2751608 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:9210 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:POU1F1 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch ncbigene:5449 semapv:UnspecifiedMatching +OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:10816 semapv:UnspecifiedMatching +OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:SCG5 semapv:UnspecifiedMatching +OMIM:173120 SGNE1 skos:exactMatch ncbigene:6447 semapv:UnspecifiedMatching +OMIM:173200 pityriasis rubra pilaris skos:exactMatch MONDO:0008251 semapv:UnspecifiedMatching +OMIM:173310 PAEP skos:exactMatch hgnc.symbol:8573 semapv:UnspecifiedMatching +OMIM:173310 PAEP skos:exactMatch hgnc.symbol:PAEP semapv:UnspecifiedMatching +OMIM:173310 PAEP skos:exactMatch ncbigene:5047 semapv:UnspecifiedMatching +OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:10074 semapv:UnspecifiedMatching +OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:RNH1 semapv:UnspecifiedMatching +OMIM:173320 RNH1 skos:exactMatch ncbigene:6050 semapv:UnspecifiedMatching +OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:8950 semapv:UnspecifiedMatching +OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:SERPINB6 semapv:UnspecifiedMatching +OMIM:173321 SERPINB6 skos:exactMatch ncbigene:5269 semapv:UnspecifiedMatching +OMIM:173325 JUP skos:exactMatch hgnc.symbol:6207 semapv:UnspecifiedMatching +OMIM:173325 JUP skos:exactMatch hgnc.symbol:JUP semapv:UnspecifiedMatching +OMIM:173325 JUP skos:exactMatch ncbigene:3728 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C1414407 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C1866432 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C2750078 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C3809781 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch UMLS:C5436943 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:3356 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:ENPP1 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch ncbigene:5167 semapv:UnspecifiedMatching +OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:9072 semapv:UnspecifiedMatching +OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:PLGLB1 semapv:UnspecifiedMatching +OMIM:173340 PLGLB1 skos:exactMatch ncbigene:5343 semapv:UnspecifiedMatching +OMIM:173350 PLG skos:exactMatch hgnc.symbol:9071 semapv:UnspecifiedMatching +OMIM:173350 PLG skos:exactMatch hgnc.symbol:PLG semapv:UnspecifiedMatching +OMIM:173350 PLG skos:exactMatch ncbigene:5340 semapv:UnspecifiedMatching +OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:8583 semapv:UnspecifiedMatching +OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:SERPINE1 semapv:UnspecifiedMatching +OMIM:173360 SERPINE1 skos:exactMatch ncbigene:5054 semapv:UnspecifiedMatching +OMIM:173370 PLAT skos:exactMatch hgnc.symbol:9051 semapv:UnspecifiedMatching +OMIM:173370 PLAT skos:exactMatch hgnc.symbol:PLAT semapv:UnspecifiedMatching +OMIM:173370 PLAT skos:exactMatch ncbigene:5327 semapv:UnspecifiedMatching +OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:8584 semapv:UnspecifiedMatching +OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:SERPINB2 semapv:UnspecifiedMatching +OMIM:173390 SERPINB2 skos:exactMatch ncbigene:5055 semapv:UnspecifiedMatching +OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:9053 semapv:UnspecifiedMatching +OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:PLAUR semapv:UnspecifiedMatching +OMIM:173391 PLAUR skos:exactMatch ncbigene:5329 semapv:UnspecifiedMatching +OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:9582 semapv:UnspecifiedMatching +OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:PTAFR semapv:UnspecifiedMatching +OMIM:173393 PTAFR skos:exactMatch ncbigene:5724 semapv:UnspecifiedMatching +OMIM:173395 platelet adenylate cyclase activity skos:exactMatch MONDO:0008252 semapv:UnspecifiedMatching +OMIM:173400 platelet aggregation, spontaneous skos:exactMatch MONDO:0008253 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C1335202 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C1866182 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C3554321 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:8804 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:PDGFRB semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch ncbigene:5159 semapv:UnspecifiedMatching +OMIM:173420 platelet disorder, undefined skos:exactMatch MONDO:0008254 semapv:UnspecifiedMatching +OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:8799 semapv:UnspecifiedMatching +OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:PDGFA semapv:UnspecifiedMatching +OMIM:173430 PDGFA skos:exactMatch ncbigene:5154 semapv:UnspecifiedMatching +OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:8823 semapv:UnspecifiedMatching +OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:PECAM1 semapv:UnspecifiedMatching +OMIM:173445 PECAM1 skos:exactMatch ncbigene:5175 semapv:UnspecifiedMatching +OMIM:173450 platelet factor 3 deficiency skos:exactMatch MONDO:0008255 semapv:UnspecifiedMatching +OMIM:173460 PF4 skos:exactMatch hgnc.symbol:8861 semapv:UnspecifiedMatching +OMIM:173460 PF4 skos:exactMatch hgnc.symbol:PF4 semapv:UnspecifiedMatching +OMIM:173460 PF4 skos:exactMatch ncbigene:5196 semapv:UnspecifiedMatching +OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:8862 semapv:UnspecifiedMatching +OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:PF4V1 semapv:UnspecifiedMatching +OMIM:173461 PF4V1 skos:exactMatch ncbigene:5197 semapv:UnspecifiedMatching +OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:6156 semapv:UnspecifiedMatching +OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:ITGB3 semapv:UnspecifiedMatching +OMIM:173470 ITGB3 skos:exactMatch ncbigene:3690 semapv:UnspecifiedMatching +OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:8803 semapv:UnspecifiedMatching +OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:PDGFRA semapv:UnspecifiedMatching +OMIM:173490 PDGFRA skos:exactMatch ncbigene:5156 semapv:UnspecifiedMatching +OMIM:173510 CD36 skos:exactMatch hgnc.symbol:1663 semapv:UnspecifiedMatching +OMIM:173510 CD36 skos:exactMatch hgnc.symbol:CD36 semapv:UnspecifiedMatching +OMIM:173510 CD36 skos:exactMatch ncbigene:948 semapv:UnspecifiedMatching +OMIM:173511 GP5 skos:exactMatch hgnc.symbol:4443 semapv:UnspecifiedMatching +OMIM:173511 GP5 skos:exactMatch hgnc.symbol:GP5 semapv:UnspecifiedMatching +OMIM:173511 GP5 skos:exactMatch ncbigene:2814 semapv:UnspecifiedMatching +OMIM:173515 GP9 skos:exactMatch hgnc.symbol:4444 semapv:UnspecifiedMatching +OMIM:173515 GP9 skos:exactMatch hgnc.symbol:GP9 semapv:UnspecifiedMatching +OMIM:173515 GP9 skos:exactMatch ncbigene:2815 semapv:UnspecifiedMatching +OMIM:173560 platelet membrane fluidity skos:exactMatch MONDO:0008256 semapv:UnspecifiedMatching +OMIM:173570 PLEK skos:exactMatch hgnc.symbol:9070 semapv:UnspecifiedMatching +OMIM:173570 PLEK skos:exactMatch hgnc.symbol:PLEK semapv:UnspecifiedMatching +OMIM:173570 PLEK skos:exactMatch ncbigene:5341 semapv:UnspecifiedMatching +OMIM:173580 platelet responsiveness to adrenaline, depressed skos:exactMatch MONDO:0008257 semapv:UnspecifiedMatching +OMIM:173590 platelet signal processing defect skos:exactMatch MONDO:0008258 semapv:UnspecifiedMatching +OMIM:173600 pneumothorax, primary spontaneous skos:exactMatch MONDO:0008259 semapv:UnspecifiedMatching +OMIM:173610 SELP skos:exactMatch hgnc.symbol:10721 semapv:UnspecifiedMatching +OMIM:173610 SELP skos:exactMatch hgnc.symbol:SELP semapv:UnspecifiedMatching +OMIM:173610 SELP skos:exactMatch ncbigene:6403 semapv:UnspecifiedMatching +OMIM:173650 kindler syndrome skos:exactMatch MONDO:0008260 semapv:UnspecifiedMatching +OMIM:173700 poikiloderma, hereditary sclerosing skos:exactMatch MONDO:0008261 semapv:UnspecifiedMatching +OMIM:173800 poland syndrome skos:exactMatch MONDO:0008262 semapv:UnspecifiedMatching +OMIM:173850 PVR skos:exactMatch hgnc.symbol:9705 semapv:UnspecifiedMatching +OMIM:173850 PVR skos:exactMatch hgnc.symbol:PVR semapv:UnspecifiedMatching +OMIM:173850 PVR skos:exactMatch ncbigene:5817 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch UMLS:C1538577 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:270 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:PARP1 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch ncbigene:142 semapv:UnspecifiedMatching +OMIM:173880 PIGR skos:exactMatch hgnc.symbol:8968 semapv:UnspecifiedMatching +OMIM:173880 PIGR skos:exactMatch hgnc.symbol:PIGR semapv:UnspecifiedMatching +OMIM:173880 PIGR skos:exactMatch ncbigene:5284 semapv:UnspecifiedMatching +OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease skos:exactMatch MONDO:0008263 semapv:UnspecifiedMatching +OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:9009 semapv:UnspecifiedMatching +OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:PKD2 semapv:UnspecifiedMatching +OMIM:173910 PKD2 skos:exactMatch ncbigene:5311 semapv:UnspecifiedMatching +OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch MONDO:0020726 semapv:UnspecifiedMatching +OMIM:174050 polycystic liver disease 1 with or without kidney cysts skos:exactMatch MONDO:0008265 semapv:UnspecifiedMatching +OMIM:174200 polydactyly, postaxial, iia a1 skos:exactMatch MONDO:0008266 semapv:UnspecifiedMatching +OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch MONDO:0008267 semapv:UnspecifiedMatching +OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch Orphanet:2919 semapv:UnspecifiedMatching +OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching +OMIM:174310 polydactyly, postaxial, with progressive myopia skos:exactMatch MONDO:0008268 semapv:UnspecifiedMatching +OMIM:174400 polydactyly, preaxial 1 skos:exactMatch MONDO:0008269 semapv:UnspecifiedMatching +OMIM:174500 polydactyly, preaxial 2 skos:exactMatch MONDO:0008270 semapv:UnspecifiedMatching +OMIM:174600 polydactyly, preaxial 3 skos:exactMatch MONDO:0008271 semapv:UnspecifiedMatching +OMIM:174700 polydactyly, preaxial 4 skos:exactMatch MONDO:0008272 semapv:UnspecifiedMatching +OMIM:174760 POLB skos:exactMatch hgnc.symbol:9174 semapv:UnspecifiedMatching +OMIM:174760 POLB skos:exactMatch hgnc.symbol:POLB semapv:UnspecifiedMatching +OMIM:174760 POLB skos:exactMatch ncbigene:5423 semapv:UnspecifiedMatching +OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:9175 semapv:UnspecifiedMatching +OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:POLD1 semapv:UnspecifiedMatching +OMIM:174761 POLD1 skos:exactMatch ncbigene:5424 semapv:UnspecifiedMatching +OMIM:174762 POLE skos:exactMatch hgnc.symbol:9177 semapv:UnspecifiedMatching +OMIM:174762 POLE skos:exactMatch hgnc.symbol:POLE semapv:UnspecifiedMatching +OMIM:174762 POLE skos:exactMatch ncbigene:5426 semapv:UnspecifiedMatching +OMIM:174763 POLG skos:exactMatch hgnc.symbol:9179 semapv:UnspecifiedMatching +OMIM:174763 POLG skos:exactMatch hgnc.symbol:POLG semapv:UnspecifiedMatching +OMIM:174763 POLG skos:exactMatch ncbigene:5428 semapv:UnspecifiedMatching +OMIM:174770 actinic prurigo skos:exactMatch MONDO:0008273 semapv:UnspecifiedMatching +OMIM:174800 mccune-albright syndrome skos:exactMatch MONDO:0018919 semapv:UnspecifiedMatching +OMIM:174810 familial expansile osteolysis skos:exactMatch MONDO:0008275 semapv:UnspecifiedMatching +OMIM:174900 juvenile polyposis syndrome skos:exactMatch MONDO:0017380 semapv:UnspecifiedMatching +OMIM:175020 skos:exactMatch MONDO:0024293 semapv:UnspecifiedMatching +OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch MONDO:0008278 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch MONDO:0021056 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:247806 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2674616 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2713442 semapv:UnspecifiedMatching +OMIM:175200 peutz-jeghers syndrome skos:exactMatch MONDO:0008280 semapv:UnspecifiedMatching +OMIM:175400 polyposis, intestinal, scattered and discrete skos:exactMatch MONDO:0008281 semapv:UnspecifiedMatching +OMIM:175450 polyposis, intestinal, with multiple exostoses skos:exactMatch MONDO:0008282 semapv:UnspecifiedMatching +OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes skos:exactMatch MONDO:0008283 semapv:UnspecifiedMatching +OMIM:175510 gist-plus syndrome skos:exactMatch MONDO:0008285 semapv:UnspecifiedMatching +OMIM:175690 polysyndactyly, crossed skos:exactMatch MONDO:0008286 semapv:UnspecifiedMatching +OMIM:175700 greig cephalopolysyndactyly syndrome skos:exactMatch MONDO:0008287 semapv:UnspecifiedMatching +OMIM:175750 popliteal cyst skos:exactMatch MONDO:0008288 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch MONDO:0008289 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C2675650 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4551998 semapv:UnspecifiedMatching +OMIM:175800 porokeratosis 1, multiple types skos:exactMatch MONDO:0008290 semapv:UnspecifiedMatching +OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia skos:exactMatch MONDO:0008291 semapv:UnspecifiedMatching +OMIM:175860 palmoplantar keratoderma, punctate iia 2 skos:exactMatch MONDO:0008292 semapv:UnspecifiedMatching +OMIM:175900 porokeratosis 3, multiple types skos:exactMatch MONDO:0008293 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch MONDO:0008294 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0268322 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C2936779 semapv:UnspecifiedMatching +OMIM:176090 porphyria cutanea tarda, iia 1 skos:exactMatch MONDO:0008295 semapv:UnspecifiedMatching +OMIM:176100 porphyria cutanea tarda skos:exactMatch MONDO:0008296 semapv:UnspecifiedMatching +OMIM:176200 variegate porphyria skos:exactMatch MONDO:0008297 semapv:UnspecifiedMatching +OMIM:176240 postaxial oligodactyly, tetramelic skos:exactMatch MONDO:0008298 semapv:UnspecifiedMatching +OMIM:176250 posterior column ataxia skos:exactMatch MONDO:0008299 semapv:UnspecifiedMatching +OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:6234 semapv:UnspecifiedMatching +OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:KCNC2 semapv:UnspecifiedMatching +OMIM:176256 KCNC2 skos:exactMatch ncbigene:3747 semapv:UnspecifiedMatching +OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:6225 semapv:UnspecifiedMatching +OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:KCNA6 semapv:UnspecifiedMatching +OMIM:176257 KCNA6 skos:exactMatch ncbigene:3742 semapv:UnspecifiedMatching +OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:6233 semapv:UnspecifiedMatching +OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:KCNC1 semapv:UnspecifiedMatching +OMIM:176258 KCNC1 skos:exactMatch ncbigene:3746 semapv:UnspecifiedMatching +OMIM:176260 KCNA1 skos:exactMatch hgnc.symbol:6218 semapv:UnspecifiedMatching +OMIM:176260 KCNA1 skos:exactMatch hgnc.symbol:KCNA1 semapv:UnspecifiedMatching +OMIM:176260 KCNA1 skos:exactMatch ncbigene:3736 semapv:UnspecifiedMatching +OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:6240 semapv:UnspecifiedMatching +OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:KCNE1 semapv:UnspecifiedMatching +OMIM:176261 KCNE1 skos:exactMatch ncbigene:3753 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch UMLS:C1416545 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:6220 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:KCNA2 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch ncbigene:3737 semapv:UnspecifiedMatching +OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:6221 semapv:UnspecifiedMatching +OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:KCNA3 semapv:UnspecifiedMatching +OMIM:176263 KCNA3 skos:exactMatch ncbigene:3738 semapv:UnspecifiedMatching +OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:6235 semapv:UnspecifiedMatching +OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:KCNC3 semapv:UnspecifiedMatching +OMIM:176264 KCNC3 skos:exactMatch ncbigene:3748 semapv:UnspecifiedMatching +OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:6236 semapv:UnspecifiedMatching +OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:KCNC4 semapv:UnspecifiedMatching +OMIM:176265 KCNC4 skos:exactMatch ncbigene:3749 semapv:UnspecifiedMatching +OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:6222 semapv:UnspecifiedMatching +OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:KCNA4 semapv:UnspecifiedMatching +OMIM:176266 KCNA4 skos:exactMatch ncbigene:3739 semapv:UnspecifiedMatching +OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:6224 semapv:UnspecifiedMatching +OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:KCNA5 semapv:UnspecifiedMatching +OMIM:176267 KCNA5 skos:exactMatch ncbigene:3741 semapv:UnspecifiedMatching +OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:6226 semapv:UnspecifiedMatching +OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:KCNA7 semapv:UnspecifiedMatching +OMIM:176268 KCNA7 skos:exactMatch ncbigene:3743 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch MONDO:0008300 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177907 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177910 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:98754 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch UMLS:C0032897 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch UMLS:C1867858 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch UMLS:C1414069 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:2907 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:DLK1 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch ncbigene:8788 semapv:UnspecifiedMatching +OMIM:176300 TTR skos:exactMatch hgnc.symbol:12405 semapv:UnspecifiedMatching +OMIM:176300 TTR skos:exactMatch hgnc.symbol:TTR semapv:UnspecifiedMatching +OMIM:176300 TTR skos:exactMatch ncbigene:7276 semapv:UnspecifiedMatching +OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch MONDO:0008301 semapv:UnspecifiedMatching +OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch Orphanet:2957 semapv:UnspecifiedMatching +OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch UMLS:C1867801 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C1418285 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C1418287 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4539968 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4540544 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4693971 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4693972 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch UMLS:C4693973 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:8632 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:PBX1 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch ncbigene:5087 semapv:UnspecifiedMatching +OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:8633 semapv:UnspecifiedMatching +OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:PBX2 semapv:UnspecifiedMatching +OMIM:176311 PBX2 skos:exactMatch ncbigene:5089 semapv:UnspecifiedMatching +OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:8634 semapv:UnspecifiedMatching +OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:PBX3 semapv:UnspecifiedMatching +OMIM:176312 PBX3 skos:exactMatch ncbigene:5090 semapv:UnspecifiedMatching +OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:8602 semapv:UnspecifiedMatching +OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:PAPPA semapv:UnspecifiedMatching +OMIM:176385 PAPPA skos:exactMatch ncbigene:5069 semapv:UnspecifiedMatching +OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:9514 semapv:UnspecifiedMatching +OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:PSG1 semapv:UnspecifiedMatching +OMIM:176390 PSG1 skos:exactMatch ncbigene:5669 semapv:UnspecifiedMatching +OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:9519 semapv:UnspecifiedMatching +OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:PSG2 semapv:UnspecifiedMatching +OMIM:176391 PSG2 skos:exactMatch ncbigene:5670 semapv:UnspecifiedMatching +OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:9520 semapv:UnspecifiedMatching +OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:PSG3 semapv:UnspecifiedMatching +OMIM:176392 PSG3 skos:exactMatch ncbigene:5671 semapv:UnspecifiedMatching +OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:9521 semapv:UnspecifiedMatching +OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:PSG4 semapv:UnspecifiedMatching +OMIM:176393 PSG4 skos:exactMatch ncbigene:5672 semapv:UnspecifiedMatching +OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:9522 semapv:UnspecifiedMatching +OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:PSG5 semapv:UnspecifiedMatching +OMIM:176394 PSG5 skos:exactMatch ncbigene:5673 semapv:UnspecifiedMatching +OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:9523 semapv:UnspecifiedMatching +OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:PSG6 semapv:UnspecifiedMatching +OMIM:176395 PSG6 skos:exactMatch ncbigene:5675 semapv:UnspecifiedMatching +OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:9524 semapv:UnspecifiedMatching +OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:PSG7 semapv:UnspecifiedMatching +OMIM:176396 PSG7 skos:exactMatch ncbigene:5676 semapv:UnspecifiedMatching +OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:9525 semapv:UnspecifiedMatching +OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:PSG8 semapv:UnspecifiedMatching +OMIM:176397 PSG8 skos:exactMatch ncbigene:440533 semapv:UnspecifiedMatching +OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:9526 semapv:UnspecifiedMatching +OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:PSG9 semapv:UnspecifiedMatching +OMIM:176398 PSG9 skos:exactMatch ncbigene:5678 semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch UMLS:C1418992 semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:9515 semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:PSG10P semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch ncbigene:653492 semapv:UnspecifiedMatching +OMIM:176400 precocious puberty, central, 1 skos:exactMatch MONDO:0008302 semapv:UnspecifiedMatching +OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:9516 semapv:UnspecifiedMatching +OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:PSG11 semapv:UnspecifiedMatching +OMIM:176401 PSG11 skos:exactMatch ncbigene:5680 semapv:UnspecifiedMatching +OMIM:176410 precocious puberty, male-limited skos:exactMatch MONDO:0008303 semapv:UnspecifiedMatching +OMIM:176420 PZP skos:exactMatch hgnc.symbol:9750 semapv:UnspecifiedMatching +OMIM:176420 PZP skos:exactMatch hgnc.symbol:PZP semapv:UnspecifiedMatching +OMIM:176420 PZP skos:exactMatch ncbigene:5858 semapv:UnspecifiedMatching +OMIM:176430 premature chromatid separation trait skos:exactMatch MONDO:0008304 semapv:UnspecifiedMatching +OMIM:176450 currarino syndrome skos:exactMatch MONDO:0008305 semapv:UnspecifiedMatching +OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 skos:exactMatch MONDO:0008306 semapv:UnspecifiedMatching +OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:8882 semapv:UnspecifiedMatching +OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:PFN2 semapv:UnspecifiedMatching +OMIM:176590 PFN2 skos:exactMatch ncbigene:5217 semapv:UnspecifiedMatching +OMIM:176600 presenile dementia, kraepelin iia skos:exactMatch MONDO:0008307 semapv:UnspecifiedMatching +OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:8881 semapv:UnspecifiedMatching +OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:PFN1 semapv:UnspecifiedMatching +OMIM:176610 PFN1 skos:exactMatch ncbigene:5216 semapv:UnspecifiedMatching +OMIM:176620 priapism, familial idiopathic skos:exactMatch MONDO:0008308 semapv:UnspecifiedMatching +OMIM:176630 primary release disorder of platelets skos:exactMatch MONDO:0008309 semapv:UnspecifiedMatching +OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:9369 semapv:UnspecifiedMatching +OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:PRIM1 semapv:UnspecifiedMatching +OMIM:176635 PRIM1 skos:exactMatch ncbigene:5557 semapv:UnspecifiedMatching +OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:9370 semapv:UnspecifiedMatching +OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:PRIM2 semapv:UnspecifiedMatching +OMIM:176636 PRIM2A skos:exactMatch ncbigene:5558 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C0022336 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C0206042 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C1418941 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C1847650 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C1864112 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C1867751 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C1867752 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C3805618 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C4016337 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch UMLS:C4016338 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch hgnc.symbol:9449 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch hgnc.symbol:PRNP semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch ncbigene:5621 semapv:UnspecifiedMatching +OMIM:176670 hutchinson-gilford progeria syndrome skos:exactMatch MONDO:0008310 semapv:UnspecifiedMatching +OMIM:176690 progeroid short stature with pigmented nevi skos:exactMatch MONDO:0008311 semapv:UnspecifiedMatching +OMIM:176700 prognathism, mandibular skos:exactMatch MONDO:0008312 semapv:UnspecifiedMatching +OMIM:176705 PHB skos:exactMatch hgnc.symbol:8912 semapv:UnspecifiedMatching +OMIM:176705 PHB skos:exactMatch hgnc.symbol:PHB1 semapv:UnspecifiedMatching +OMIM:176705 PHB skos:exactMatch ncbigene:5245 semapv:UnspecifiedMatching +OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:8546 semapv:UnspecifiedMatching +OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:P4HA1 semapv:UnspecifiedMatching +OMIM:176710 P4HA1 skos:exactMatch ncbigene:5033 semapv:UnspecifiedMatching +OMIM:176720 PIP skos:exactMatch hgnc.symbol:8993 semapv:UnspecifiedMatching +OMIM:176720 PIP skos:exactMatch hgnc.symbol:PIP semapv:UnspecifiedMatching +OMIM:176720 PIP skos:exactMatch ncbigene:5304 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C0342283 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C1337112 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch hgnc.symbol:6081 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch hgnc.symbol:INS semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch ncbigene:3630 semapv:UnspecifiedMatching +OMIM:176740 PCNA skos:exactMatch hgnc.symbol:8729 semapv:UnspecifiedMatching +OMIM:176740 PCNA skos:exactMatch hgnc.symbol:PCNA semapv:UnspecifiedMatching +OMIM:176740 PCNA skos:exactMatch ncbigene:5111 semapv:UnspecifiedMatching +OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:7107 semapv:UnspecifiedMatching +OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:MKI67 semapv:UnspecifiedMatching +OMIM:176741 MKI67 skos:exactMatch ncbigene:4288 semapv:UnspecifiedMatching +OMIM:176760 PRL skos:exactMatch hgnc.symbol:9445 semapv:UnspecifiedMatching +OMIM:176760 PRL skos:exactMatch hgnc.symbol:PRL semapv:UnspecifiedMatching +OMIM:176760 PRL skos:exactMatch ncbigene:5617 semapv:UnspecifiedMatching +OMIM:176761 PRLR skos:exactMatch hgnc.symbol:9446 semapv:UnspecifiedMatching +OMIM:176761 PRLR skos:exactMatch hgnc.symbol:PRLR semapv:UnspecifiedMatching +OMIM:176761 PRLR skos:exactMatch ncbigene:5618 semapv:UnspecifiedMatching +OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:9352 semapv:UnspecifiedMatching +OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:PRDX1 semapv:UnspecifiedMatching +OMIM:176763 PRDX1 skos:exactMatch ncbigene:5052 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch MONDO:0008313 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0205990 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C1868686 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C2752090 semapv:UnspecifiedMatching +OMIM:176785 PRCP skos:exactMatch hgnc.symbol:9344 semapv:UnspecifiedMatching +OMIM:176785 PRCP skos:exactMatch hgnc.symbol:PRCP semapv:UnspecifiedMatching +OMIM:176785 PRCP skos:exactMatch ncbigene:5547 semapv:UnspecifiedMatching +OMIM:176790 P4HB skos:exactMatch hgnc.symbol:8548 semapv:UnspecifiedMatching +OMIM:176790 P4HB skos:exactMatch hgnc.symbol:P4HB semapv:UnspecifiedMatching +OMIM:176790 P4HB skos:exactMatch ncbigene:5034 semapv:UnspecifiedMatching +OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:9110 semapv:UnspecifiedMatching +OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:PMCHL1 semapv:UnspecifiedMatching +OMIM:176793 PMCHL1 skos:exactMatch ncbigene:5369 semapv:UnspecifiedMatching +OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:9111 semapv:UnspecifiedMatching +OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:PMCHL2 semapv:UnspecifiedMatching +OMIM:176794 PMCHL2 skos:exactMatch ncbigene:5370 semapv:UnspecifiedMatching +OMIM:176795 PMCH skos:exactMatch hgnc.symbol:9109 semapv:UnspecifiedMatching +OMIM:176795 PMCH skos:exactMatch hgnc.symbol:PMCH semapv:UnspecifiedMatching +OMIM:176795 PMCH skos:exactMatch ncbigene:5367 semapv:UnspecifiedMatching +OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:12930 semapv:UnspecifiedMatching +OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:ZBTB16 semapv:UnspecifiedMatching +OMIM:176797 ZBTB16 skos:exactMatch ncbigene:7704 semapv:UnspecifiedMatching +OMIM:176800 pronation-supination of the forearm, impairment of skos:exactMatch MONDO:0008314 semapv:UnspecifiedMatching +OMIM:176801 PSAP skos:exactMatch hgnc.symbol:9498 semapv:UnspecifiedMatching +OMIM:176801 PSAP skos:exactMatch hgnc.symbol:PSAP semapv:UnspecifiedMatching +OMIM:176801 PSAP skos:exactMatch ncbigene:5660 semapv:UnspecifiedMatching +OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:9593 semapv:UnspecifiedMatching +OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:PTGER1 semapv:UnspecifiedMatching +OMIM:176802 PTGER1 skos:exactMatch ncbigene:5731 semapv:UnspecifiedMatching +OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:9592 semapv:UnspecifiedMatching +OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:PTGDS semapv:UnspecifiedMatching +OMIM:176803 PTGDS skos:exactMatch ncbigene:5730 semapv:UnspecifiedMatching +OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:9594 semapv:UnspecifiedMatching +OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:PTGER2 semapv:UnspecifiedMatching +OMIM:176804 PTGER2 skos:exactMatch ncbigene:5732 semapv:UnspecifiedMatching +OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:9604 semapv:UnspecifiedMatching +OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:PTGS1 semapv:UnspecifiedMatching +OMIM:176805 PTGS1 skos:exactMatch ncbigene:5742 semapv:UnspecifiedMatching +OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:9595 semapv:UnspecifiedMatching +OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:PTGER3 semapv:UnspecifiedMatching +OMIM:176806 PTGER3 skos:exactMatch ncbigene:5733 semapv:UnspecifiedMatching +OMIM:176807 prostate cancer skos:exactMatch MONDO:0023122 semapv:UnspecifiedMatching +OMIM:176807 prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching +OMIM:176807 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching +OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:6364 semapv:UnspecifiedMatching +OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:KLK3 semapv:UnspecifiedMatching +OMIM:176820 KLK3 skos:exactMatch ncbigene:354 semapv:UnspecifiedMatching +OMIM:176830 POMC skos:exactMatch hgnc.symbol:9201 semapv:UnspecifiedMatching +OMIM:176830 POMC skos:exactMatch hgnc.symbol:POMC semapv:UnspecifiedMatching +OMIM:176830 POMC skos:exactMatch ncbigene:5443 semapv:UnspecifiedMatching +OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:9531 semapv:UnspecifiedMatching +OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:PSMA2 semapv:UnspecifiedMatching +OMIM:176842 PSMA2 skos:exactMatch ncbigene:5683 semapv:UnspecifiedMatching +OMIM:176843 PSMA3 skos:exactMatch hgnc.symbol:9532 semapv:UnspecifiedMatching +OMIM:176843 PSMA3 skos:exactMatch hgnc.symbol:PSMA3 semapv:UnspecifiedMatching +OMIM:176843 PSMA3 skos:exactMatch ncbigene:5684 semapv:UnspecifiedMatching +OMIM:176844 PSMA5 skos:exactMatch hgnc.symbol:9534 semapv:UnspecifiedMatching +OMIM:176844 PSMA5 skos:exactMatch hgnc.symbol:PSMA5 semapv:UnspecifiedMatching +OMIM:176844 PSMA5 skos:exactMatch ncbigene:5686 semapv:UnspecifiedMatching +OMIM:176846 PSMA4 skos:exactMatch hgnc.symbol:9533 semapv:UnspecifiedMatching +OMIM:176846 PSMA4 skos:exactMatch hgnc.symbol:PSMA4 semapv:UnspecifiedMatching +OMIM:176846 PSMA4 skos:exactMatch ncbigene:5685 semapv:UnspecifiedMatching +OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:9538 semapv:UnspecifiedMatching +OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:PSMB10 semapv:UnspecifiedMatching +OMIM:176847 PSMB10 skos:exactMatch ncbigene:5699 semapv:UnspecifiedMatching +OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:8728 semapv:UnspecifiedMatching +OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:PCMT1 semapv:UnspecifiedMatching +OMIM:176851 PCMT1 skos:exactMatch ncbigene:5110 semapv:UnspecifiedMatching +OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant skos:exactMatch MONDO:0008316 semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch UMLS:C0077906 semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch UMLS:C1412376 semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch hgnc.symbol:453 semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch hgnc.symbol:AMBP semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch ncbigene:259 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C1539341 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:9437 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:EIF2AK2 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch ncbigene:5610 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch UMLS:C1334474 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch UMLS:C5394559 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:6840 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:MAP2K1 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch ncbigene:5604 semapv:UnspecifiedMatching +OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:1729 semapv:UnspecifiedMatching +OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:CDK11B semapv:UnspecifiedMatching +OMIM:176873 CDK11B skos:exactMatch ncbigene:984 semapv:UnspecifiedMatching +OMIM:176875 PPP1CA skos:exactMatch UMLS:C1335240 semapv:UnspecifiedMatching +OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:9281 semapv:UnspecifiedMatching +OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:PPP1CA semapv:UnspecifiedMatching +OMIM:176875 PPP1CA skos:exactMatch ncbigene:5499 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C0410530 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C1335280 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:9644 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:PTPN11 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch ncbigene:5781 semapv:UnspecifiedMatching +OMIM:176877 PTPN3 skos:exactMatch hgnc.symbol:9655 semapv:UnspecifiedMatching +OMIM:176877 PTPN3 skos:exactMatch hgnc.symbol:PTPN3 semapv:UnspecifiedMatching +OMIM:176877 PTPN3 skos:exactMatch ncbigene:5774 semapv:UnspecifiedMatching +OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:9656 semapv:UnspecifiedMatching +OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:PTPN4 semapv:UnspecifiedMatching +OMIM:176878 PTPN4 skos:exactMatch ncbigene:5775 semapv:UnspecifiedMatching +OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:9657 semapv:UnspecifiedMatching +OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:PTPN5 semapv:UnspecifiedMatching +OMIM:176879 PTPN5 skos:exactMatch ncbigene:84867 semapv:UnspecifiedMatching +OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:9456 semapv:UnspecifiedMatching +OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:PROS1 semapv:UnspecifiedMatching +OMIM:176880 PROS1 skos:exactMatch ncbigene:5627 semapv:UnspecifiedMatching +OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:9665 semapv:UnspecifiedMatching +OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:PTPRB semapv:UnspecifiedMatching +OMIM:176882 PTPRB skos:exactMatch ncbigene:5787 semapv:UnspecifiedMatching +OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:9658 semapv:UnspecifiedMatching +OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:PTPN6 semapv:UnspecifiedMatching +OMIM:176883 PTPN6 skos:exactMatch ncbigene:5777 semapv:UnspecifiedMatching +OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:9664 semapv:UnspecifiedMatching +OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:PTPRA semapv:UnspecifiedMatching +OMIM:176884 PTPRA skos:exactMatch ncbigene:5786 semapv:UnspecifiedMatching +OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:9642 semapv:UnspecifiedMatching +OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:PTPN1 semapv:UnspecifiedMatching +OMIM:176885 PTPN1 skos:exactMatch ncbigene:5770 semapv:UnspecifiedMatching +OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:9671 semapv:UnspecifiedMatching +OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:PTPRG semapv:UnspecifiedMatching +OMIM:176886 PTPRG skos:exactMatch ncbigene:5793 semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch UMLS:C1419100 semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:9650 semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:PTPN2 semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch ncbigene:5771 semapv:UnspecifiedMatching +OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:9675 semapv:UnspecifiedMatching +OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:PTPRM semapv:UnspecifiedMatching +OMIM:176888 PTPRM skos:exactMatch ncbigene:5797 semapv:UnspecifiedMatching +OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:9659 semapv:UnspecifiedMatching +OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:PTPN7 semapv:UnspecifiedMatching +OMIM:176889 PTPN7 skos:exactMatch ncbigene:5778 semapv:UnspecifiedMatching +OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:9685 semapv:UnspecifiedMatching +OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:PTPRZ1 semapv:UnspecifiedMatching +OMIM:176891 PTPRZ1 skos:exactMatch ncbigene:5803 semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch UMLS:C1418902 semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:9381 semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:PRKACB semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch ncbigene:5567 semapv:UnspecifiedMatching +OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:9382 semapv:UnspecifiedMatching +OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:PRKACG semapv:UnspecifiedMatching +OMIM:176893 PRKACG skos:exactMatch ncbigene:5568 semapv:UnspecifiedMatching +OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:9414 semapv:UnspecifiedMatching +OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:PRKG1 semapv:UnspecifiedMatching +OMIM:176894 PRKG1 skos:exactMatch ncbigene:5592 semapv:UnspecifiedMatching +OMIM:176895 PROZ skos:exactMatch hgnc.symbol:9460 semapv:UnspecifiedMatching +OMIM:176895 PROZ skos:exactMatch hgnc.symbol:PROZ semapv:UnspecifiedMatching +OMIM:176895 PROZ skos:exactMatch ncbigene:8858 semapv:UnspecifiedMatching +OMIM:176900 proteolytic capacity of plasma skos:exactMatch MONDO:0008317 semapv:UnspecifiedMatching +OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:9391 semapv:UnspecifiedMatching +OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:PRKAR2A semapv:UnspecifiedMatching +OMIM:176910 PRKAR2A skos:exactMatch ncbigene:5576 semapv:UnspecifiedMatching +OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:9390 semapv:UnspecifiedMatching +OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:PRKAR1B semapv:UnspecifiedMatching +OMIM:176911 PRKAR1B skos:exactMatch ncbigene:5575 semapv:UnspecifiedMatching +OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:9392 semapv:UnspecifiedMatching +OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:PRKAR2B semapv:UnspecifiedMatching +OMIM:176912 PRKAR2B skos:exactMatch ncbigene:5577 semapv:UnspecifiedMatching +OMIM:176914 PPP1CC skos:exactMatch UMLS:C1418821 semapv:UnspecifiedMatching +OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:9283 semapv:UnspecifiedMatching +OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:PPP1CC semapv:UnspecifiedMatching +OMIM:176914 PPP1CC skos:exactMatch ncbigene:5501 semapv:UnspecifiedMatching +OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:9299 semapv:UnspecifiedMatching +OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:PPP2CA semapv:UnspecifiedMatching +OMIM:176915 PPP2CA skos:exactMatch ncbigene:5515 semapv:UnspecifiedMatching +OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:9300 semapv:UnspecifiedMatching +OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:PPP2CB semapv:UnspecifiedMatching +OMIM:176916 PPP2CB skos:exactMatch ncbigene:5516 semapv:UnspecifiedMatching +OMIM:176920 proteus syndrome skos:exactMatch MONDO:0008318 semapv:UnspecifiedMatching +OMIM:176930 F2 skos:exactMatch hgnc.symbol:3535 semapv:UnspecifiedMatching +OMIM:176930 F2 skos:exactMatch hgnc.symbol:F2 semapv:UnspecifiedMatching +OMIM:176930 F2 skos:exactMatch ncbigene:2147 semapv:UnspecifiedMatching +OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:10486 semapv:UnspecifiedMatching +OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:S100A1 semapv:UnspecifiedMatching +OMIM:176940 S100A1 skos:exactMatch ncbigene:6271 semapv:UnspecifiedMatching +OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:12440 semapv:UnspecifiedMatching +OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:TYK2 semapv:UnspecifiedMatching +OMIM:176941 TYK2 skos:exactMatch ncbigene:7297 semapv:UnspecifiedMatching +OMIM:176942 FER skos:exactMatch hgnc.symbol:3655 semapv:UnspecifiedMatching +OMIM:176942 FER skos:exactMatch hgnc.symbol:FER semapv:UnspecifiedMatching +OMIM:176942 FER skos:exactMatch ncbigene:2241 semapv:UnspecifiedMatching +OMIM:176943 FGFR2 skos:exactMatch hgnc.symbol:3689 semapv:UnspecifiedMatching +OMIM:176943 FGFR2 skos:exactMatch hgnc.symbol:FGFR2 semapv:UnspecifiedMatching +OMIM:176943 FGFR2 skos:exactMatch ncbigene:2263 semapv:UnspecifiedMatching +OMIM:176945 EPHA8 skos:exactMatch hgnc.symbol:3391 semapv:UnspecifiedMatching +OMIM:176945 EPHA8 skos:exactMatch hgnc.symbol:EPHA8 semapv:UnspecifiedMatching +OMIM:176945 EPHA8 skos:exactMatch ncbigene:2046 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch UMLS:C1333337 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016347 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016348 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016349 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:3386 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:EPHA2 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch ncbigene:1969 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch UMLS:C1421567 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch UMLS:C2931299 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch UMLS:C4310768 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:12858 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:ZAP70 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch ncbigene:7535 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch UMLS:C1366882 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:6871 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:MAPK1 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch ncbigene:5594 semapv:UnspecifiedMatching +OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:6878 semapv:UnspecifiedMatching +OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:MAPK4 semapv:UnspecifiedMatching +OMIM:176949 MAPK4 skos:exactMatch ncbigene:5596 semapv:UnspecifiedMatching +OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:9393 semapv:UnspecifiedMatching +OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:PRKCA semapv:UnspecifiedMatching +OMIM:176960 PRKCA skos:exactMatch ncbigene:5578 semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch UMLS:C1418913 semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:9395 semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:PRKCB semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch ncbigene:5579 semapv:UnspecifiedMatching +OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:9401 semapv:UnspecifiedMatching +OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:PRKCE semapv:UnspecifiedMatching +OMIM:176975 PRKCE skos:exactMatch ncbigene:5581 semapv:UnspecifiedMatching +OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:9399 semapv:UnspecifiedMatching +OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:PRKCD semapv:UnspecifiedMatching +OMIM:176977 PRKCD skos:exactMatch ncbigene:5580 semapv:UnspecifiedMatching +OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:9402 semapv:UnspecifiedMatching +OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:PRKCG semapv:UnspecifiedMatching +OMIM:176980 PRKCG skos:exactMatch ncbigene:5582 semapv:UnspecifiedMatching +OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:4399 semapv:UnspecifiedMatching +OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:RACK1 semapv:UnspecifiedMatching +OMIM:176981 RACK1 skos:exactMatch ncbigene:10399 semapv:UnspecifiedMatching +OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:9412 semapv:UnspecifiedMatching +OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:PRKCZ semapv:UnspecifiedMatching +OMIM:176982 PRKCZ skos:exactMatch ncbigene:5590 semapv:UnspecifiedMatching +OMIM:176990 S100B skos:exactMatch hgnc.symbol:10500 semapv:UnspecifiedMatching +OMIM:176990 S100B skos:exactMatch hgnc.symbol:S100B semapv:UnspecifiedMatching +OMIM:176990 S100B skos:exactMatch ncbigene:6285 semapv:UnspecifiedMatching +OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:10495 semapv:UnspecifiedMatching +OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:S100A5 semapv:UnspecifiedMatching +OMIM:176991 S100A5 skos:exactMatch ncbigene:6276 semapv:UnspecifiedMatching +OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:10493 semapv:UnspecifiedMatching +OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:S100A3 semapv:UnspecifiedMatching +OMIM:176992 S100A3 skos:exactMatch ncbigene:6274 semapv:UnspecifiedMatching +OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:10492 semapv:UnspecifiedMatching +OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:S100A2 semapv:UnspecifiedMatching +OMIM:176993 S100A2 skos:exactMatch ncbigene:6273 semapv:UnspecifiedMatching +OMIM:177000 protoporphyria, erythropoietic, 1 skos:exactMatch MONDO:0008319 semapv:UnspecifiedMatching +OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:8951 semapv:UnspecifiedMatching +OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:SERPINE2 semapv:UnspecifiedMatching +OMIM:177010 SERPINE2 skos:exactMatch ncbigene:5270 semapv:UnspecifiedMatching +OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:9529 semapv:UnspecifiedMatching +OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:PSKH1 semapv:UnspecifiedMatching +OMIM:177015 PSKH1 skos:exactMatch ncbigene:5681 semapv:UnspecifiedMatching +OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:9495 semapv:UnspecifiedMatching +OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:PRTN3 semapv:UnspecifiedMatching +OMIM:177020 PRTN3 skos:exactMatch ncbigene:5657 semapv:UnspecifiedMatching +OMIM:177040 SRGN skos:exactMatch hgnc.symbol:9361 semapv:UnspecifiedMatching +OMIM:177040 SRGN skos:exactMatch hgnc.symbol:SRGN semapv:UnspecifiedMatching +OMIM:177040 SRGN skos:exactMatch ncbigene:5552 semapv:UnspecifiedMatching +OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:9546 semapv:UnspecifiedMatching +OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:PSMB9 semapv:UnspecifiedMatching +OMIM:177045 PSMB9 skos:exactMatch ncbigene:5698 semapv:UnspecifiedMatching +OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:9545 semapv:UnspecifiedMatching +OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:PSMB8 semapv:UnspecifiedMatching +OMIM:177046 PSMB8 skos:exactMatch ncbigene:5696 semapv:UnspecifiedMatching +OMIM:177050 protrusio acetabuli skos:exactMatch MONDO:0008320 semapv:UnspecifiedMatching +OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:9411 semapv:UnspecifiedMatching +OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:PRKCSH semapv:UnspecifiedMatching +OMIM:177060 PRKCSH skos:exactMatch ncbigene:5589 semapv:UnspecifiedMatching +OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:6759 semapv:UnspecifiedMatching +OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:MARCKS semapv:UnspecifiedMatching +OMIM:177061 MARCKS skos:exactMatch ncbigene:4082 semapv:UnspecifiedMatching +OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:3381 semapv:UnspecifiedMatching +OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:EPB42 semapv:UnspecifiedMatching +OMIM:177070 EPB42 skos:exactMatch ncbigene:2038 semapv:UnspecifiedMatching +OMIM:177075 MAF skos:exactMatch hgnc.symbol:6776 semapv:UnspecifiedMatching +OMIM:177075 MAF skos:exactMatch hgnc.symbol:MAF semapv:UnspecifiedMatching +OMIM:177075 MAF skos:exactMatch ncbigene:4094 semapv:UnspecifiedMatching +OMIM:177100 pruritus, hereditary localized skos:exactMatch MONDO:0008321 semapv:UnspecifiedMatching +OMIM:177170 pseudoachondroplasia skos:exactMatch MONDO:0008322 semapv:UnspecifiedMatching +OMIM:177200 liddle syndrome 1 skos:exactMatch MONDO:0020607 semapv:UnspecifiedMatching +OMIM:177300 pseudoarthrogryposis skos:exactMatch MONDO:0008324 semapv:UnspecifiedMatching +OMIM:177350 pseudoatrophoderma colli skos:exactMatch MONDO:0008325 semapv:UnspecifiedMatching +OMIM:177400 BCHE skos:exactMatch hgnc.symbol:983 semapv:UnspecifiedMatching +OMIM:177400 BCHE skos:exactMatch hgnc.symbol:BCHE semapv:UnspecifiedMatching +OMIM:177400 BCHE skos:exactMatch ncbigene:590 semapv:UnspecifiedMatching +OMIM:177600 pseudocholinesterase, increase 1n plasma level of skos:exactMatch MONDO:0008326 semapv:UnspecifiedMatching +OMIM:177650 exfoliation syndrome skos:exactMatch MONDO:0100046 semapv:UnspecifiedMatching +OMIM:177700 glaucoma 1, open angle, p skos:exactMatch MONDO:0008328 semapv:UnspecifiedMatching +OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant skos:exactMatch MONDO:0008329 semapv:UnspecifiedMatching +OMIM:177750 pseudomonilethrix skos:exactMatch MONDO:0008330 semapv:UnspecifiedMatching +OMIM:177800 pseudopapilledema skos:exactMatch MONDO:0008331 semapv:UnspecifiedMatching +OMIM:177820 von willebrand disease, platelet-type skos:exactMatch MONDO:0008332 semapv:UnspecifiedMatching +OMIM:177850 pseudoxanthoma elasticum, forme fruste skos:exactMatch MONDO:0008333 semapv:UnspecifiedMatching +OMIM:177900 psoriasis 1, susceptibility to skos:exactMatch MONDO:0008334 semapv:UnspecifiedMatching +OMIM:177900 psoriasis 1, susceptibility to skos:exactMatch UMLS:C1867449 semapv:UnspecifiedMatching +OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features skos:exactMatch MONDO:0008335 semapv:UnspecifiedMatching +OMIM:177990 pterygium colli, isolated skos:exactMatch MONDO:0008336 semapv:UnspecifiedMatching +OMIM:178000 pterygium of conjunctiva and cornea skos:exactMatch MONDO:0008337 semapv:UnspecifiedMatching +OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch MONDO:0008338 semapv:UnspecifiedMatching +OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch Orphanet:65743 semapv:UnspecifiedMatching +OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching +OMIM:178200 pterygium, antecubital skos:exactMatch MONDO:0008339 semapv:UnspecifiedMatching +OMIM:178300 ptosis, hereditary congenital 1 skos:exactMatch MONDO:0008340 semapv:UnspecifiedMatching +OMIM:178330 ptosis, strabismus, and ectopic pupils skos:exactMatch MONDO:0008341 semapv:UnspecifiedMatching +OMIM:178350 pubic bone dysplasia skos:exactMatch MONDO:0008342 semapv:UnspecifiedMatching +OMIM:178370 pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 semapv:UnspecifiedMatching +OMIM:178400 pulmonary edema of mountaineers, susceptibility to skos:exactMatch MONDO:0008344 semapv:UnspecifiedMatching +OMIM:178500 interstitial lung disease 2 skos:exactMatch MONDO:0800029 semapv:UnspecifiedMatching +OMIM:178550 pulmonary hemosiderosis skos:exactMatch MONDO:0008346 semapv:UnspecifiedMatching +OMIM:178600 pulmonary hypertension, primary, 1 skos:exactMatch MONDO:0024533 semapv:UnspecifiedMatching +OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial skos:exactMatch MONDO:0008348 semapv:UnspecifiedMatching +OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:10802 semapv:UnspecifiedMatching +OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:SFTPC semapv:UnspecifiedMatching +OMIM:178620 SFTPC skos:exactMatch ncbigene:6440 semapv:UnspecifiedMatching +OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:10798 semapv:UnspecifiedMatching +OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:SFTPA1 semapv:UnspecifiedMatching +OMIM:178630 SFTPA1 skos:exactMatch ncbigene:653509 semapv:UnspecifiedMatching +OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:10803 semapv:UnspecifiedMatching +OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:SFTPD semapv:UnspecifiedMatching +OMIM:178635 SFTPD skos:exactMatch ncbigene:6441 semapv:UnspecifiedMatching +OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:10801 semapv:UnspecifiedMatching +OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:SFTPB semapv:UnspecifiedMatching +OMIM:178640 SFTPB skos:exactMatch ncbigene:6439 semapv:UnspecifiedMatching +OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:10799 semapv:UnspecifiedMatching +OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:SFTPA2 semapv:UnspecifiedMatching +OMIM:178642 SFTPA2 skos:exactMatch ncbigene:729238 semapv:UnspecifiedMatching +OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch MONDO:0008349 semapv:UnspecifiedMatching +OMIM:178651 pulmonic stenosis and deafness skos:exactMatch MONDO:0008350 semapv:UnspecifiedMatching +OMIM:178800 pupil, egg-shaped skos:exactMatch MONDO:0008351 semapv:UnspecifiedMatching +OMIM:178900 pupillary membrane, persistence of skos:exactMatch MONDO:0008352 semapv:UnspecifiedMatching +OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:7174 semapv:UnspecifiedMatching +OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:MMP7 semapv:UnspecifiedMatching +OMIM:178990 MMP7 skos:exactMatch ncbigene:4316 semapv:UnspecifiedMatching +OMIM:178995 pruritic urticarial papules and plaques of pregnancy skos:exactMatch MONDO:0008353 semapv:UnspecifiedMatching +OMIM:179000 purpura simplex skos:exactMatch MONDO:0008354 semapv:UnspecifiedMatching +OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch MONDO:0008355 semapv:UnspecifiedMatching +OMIM:179020 PDXK skos:exactMatch hgnc.symbol:8819 semapv:UnspecifiedMatching +OMIM:179020 PDXK skos:exactMatch hgnc.symbol:PDXK semapv:UnspecifiedMatching +OMIM:179020 PDXK skos:exactMatch ncbigene:8566 semapv:UnspecifiedMatching +OMIM:179030 PPA1 skos:exactMatch hgnc.symbol:9226 semapv:UnspecifiedMatching +OMIM:179030 PPA1 skos:exactMatch hgnc.symbol:PPA1 semapv:UnspecifiedMatching +OMIM:179030 PPA1 skos:exactMatch ncbigene:5464 semapv:UnspecifiedMatching +OMIM:179035 PYCR1 skos:exactMatch hgnc.symbol:9721 semapv:UnspecifiedMatching +OMIM:179035 PYCR1 skos:exactMatch hgnc.symbol:PYCR1 semapv:UnspecifiedMatching +OMIM:179035 PYCR1 skos:exactMatch ncbigene:5831 semapv:UnspecifiedMatching +OMIM:179050 PKM skos:exactMatch hgnc.symbol:9021 semapv:UnspecifiedMatching +OMIM:179050 PKM skos:exactMatch hgnc.symbol:PKM semapv:UnspecifiedMatching +OMIM:179050 PKM skos:exactMatch ncbigene:5315 semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch UMLS:C1418439 semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch hgnc.symbol:8808 semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch hgnc.symbol:PDHB semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch ncbigene:5162 semapv:UnspecifiedMatching +OMIM:179061 PDHA2 skos:exactMatch hgnc.symbol:8807 semapv:UnspecifiedMatching +OMIM:179061 PDHA2 skos:exactMatch hgnc.symbol:PDHA2 semapv:UnspecifiedMatching +OMIM:179061 PDHA2 skos:exactMatch ncbigene:5161 semapv:UnspecifiedMatching +OMIM:179080 RABGGTB skos:exactMatch hgnc.symbol:9796 semapv:UnspecifiedMatching +OMIM:179080 RABGGTB skos:exactMatch hgnc.symbol:RABGGTB semapv:UnspecifiedMatching +OMIM:179080 RABGGTB skos:exactMatch ncbigene:5876 semapv:UnspecifiedMatching +OMIM:179095 UBE2B skos:exactMatch hgnc.symbol:12473 semapv:UnspecifiedMatching +OMIM:179095 UBE2B skos:exactMatch hgnc.symbol:UBE2B semapv:UnspecifiedMatching +OMIM:179095 UBE2B skos:exactMatch ncbigene:7320 semapv:UnspecifiedMatching +OMIM:179200 radial heads, posterior dislocation of skos:exactMatch MONDO:0008356 semapv:UnspecifiedMatching +OMIM:179250 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema skos:exactMatch MONDO:0008357 semapv:UnspecifiedMatching +OMIM:179270 radial ray hypoplasia with choanal atresia skos:exactMatch MONDO:0008358 semapv:UnspecifiedMatching +OMIM:179280 radial-renal syndrome skos:exactMatch MONDO:0008359 semapv:UnspecifiedMatching +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch MONDO:0100183 semapv:UnspecifiedMatching +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch Orphanet:3269 semapv:UnspecifiedMatching +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching +OMIM:179400 radius, aplasia of, with cleft lip/palate skos:exactMatch MONDO:0008361 semapv:UnspecifiedMatching +OMIM:179410 RDX skos:exactMatch hgnc.symbol:9944 semapv:UnspecifiedMatching +OMIM:179410 RDX skos:exactMatch hgnc.symbol:RDX semapv:UnspecifiedMatching +OMIM:179410 RDX skos:exactMatch ncbigene:5962 semapv:UnspecifiedMatching +OMIM:179450 ragweed sensitivity skos:exactMatch MONDO:0008362 semapv:UnspecifiedMatching +OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:9777 semapv:UnspecifiedMatching +OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:RAB3A semapv:UnspecifiedMatching +OMIM:179490 RAB3A skos:exactMatch ncbigene:5864 semapv:UnspecifiedMatching +OMIM:179500 raindrop hypopigmentation skos:exactMatch MONDO:0008363 semapv:UnspecifiedMatching +OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:9859 semapv:UnspecifiedMatching +OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:RAP1GDS1 semapv:UnspecifiedMatching +OMIM:179502 RAP1GDS1 skos:exactMatch ncbigene:5910 semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch UMLS:C0919455 semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch UMLS:C1867391 semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch hgnc.symbol:10446 semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch hgnc.symbol:RRAD semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch ncbigene:6236 semapv:UnspecifiedMatching +OMIM:179505 RHOG skos:exactMatch UMLS:C1412519 semapv:UnspecifiedMatching +OMIM:179505 RHOG skos:exactMatch hgnc.symbol:672 semapv:UnspecifiedMatching +OMIM:179505 RHOG skos:exactMatch hgnc.symbol:RHOG semapv:UnspecifiedMatching +OMIM:179505 RHOG skos:exactMatch ncbigene:391 semapv:UnspecifiedMatching +OMIM:179508 RAB1 skos:exactMatch hgnc.symbol:9758 semapv:UnspecifiedMatching +OMIM:179508 RAB1 skos:exactMatch hgnc.symbol:RAB1A semapv:UnspecifiedMatching +OMIM:179508 RAB1 skos:exactMatch ncbigene:5861 semapv:UnspecifiedMatching +OMIM:179509 RAB2 skos:exactMatch hgnc.symbol:9763 semapv:UnspecifiedMatching +OMIM:179509 RAB2 skos:exactMatch hgnc.symbol:RAB2A semapv:UnspecifiedMatching +OMIM:179509 RAB2 skos:exactMatch ncbigene:5862 semapv:UnspecifiedMatching +OMIM:179510 RAB3B skos:exactMatch hgnc.symbol:9778 semapv:UnspecifiedMatching +OMIM:179510 RAB3B skos:exactMatch hgnc.symbol:RAB3B semapv:UnspecifiedMatching +OMIM:179510 RAB3B skos:exactMatch ncbigene:5865 semapv:UnspecifiedMatching +OMIM:179511 RAB4A skos:exactMatch hgnc.symbol:9781 semapv:UnspecifiedMatching +OMIM:179511 RAB4A skos:exactMatch hgnc.symbol:RAB4A semapv:UnspecifiedMatching +OMIM:179511 RAB4A skos:exactMatch ncbigene:5867 semapv:UnspecifiedMatching +OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:9783 semapv:UnspecifiedMatching +OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:RAB5A semapv:UnspecifiedMatching +OMIM:179512 RAB5A skos:exactMatch ncbigene:5868 semapv:UnspecifiedMatching +OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:9786 semapv:UnspecifiedMatching +OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:RAB6A semapv:UnspecifiedMatching +OMIM:179513 RAB6A skos:exactMatch ncbigene:5870 semapv:UnspecifiedMatching +OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:9784 semapv:UnspecifiedMatching +OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:RAB5B semapv:UnspecifiedMatching +OMIM:179514 RAB5B skos:exactMatch ncbigene:5869 semapv:UnspecifiedMatching +OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:9855 semapv:UnspecifiedMatching +OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:RAP1A semapv:UnspecifiedMatching +OMIM:179520 RAP1A skos:exactMatch ncbigene:5906 semapv:UnspecifiedMatching +OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:9857 semapv:UnspecifiedMatching +OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:RAP1B semapv:UnspecifiedMatching +OMIM:179530 RAP1B skos:exactMatch ncbigene:5908 semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch UMLS:C1419269 semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:9861 semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:RAP2A semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch ncbigene:5911 semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch UMLS:C1419270 semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:9862 semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:RAP2B semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch ncbigene:5912 semapv:UnspecifiedMatching +OMIM:179550 RALA skos:exactMatch UMLS:C0812284 semapv:UnspecifiedMatching +OMIM:179550 RALA skos:exactMatch hgnc.symbol:9839 semapv:UnspecifiedMatching +OMIM:179550 RALA skos:exactMatch hgnc.symbol:RALA semapv:UnspecifiedMatching +OMIM:179550 RALA skos:exactMatch ncbigene:5898 semapv:UnspecifiedMatching +OMIM:179551 RALB skos:exactMatch hgnc.symbol:9840 semapv:UnspecifiedMatching +OMIM:179551 RALB skos:exactMatch hgnc.symbol:RALB semapv:UnspecifiedMatching +OMIM:179551 RALB skos:exactMatch ncbigene:5899 semapv:UnspecifiedMatching +OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:10464 semapv:UnspecifiedMatching +OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:RSU1 semapv:UnspecifiedMatching +OMIM:179555 RSU1 skos:exactMatch ncbigene:6251 semapv:UnspecifiedMatching +OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:9670 semapv:UnspecifiedMatching +OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:PTPRF semapv:UnspecifiedMatching +OMIM:179590 PTPRF skos:exactMatch ncbigene:5792 semapv:UnspecifiedMatching +OMIM:179600 raynaud disease skos:exactMatch MONDO:0008364 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C1826711 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842914 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C2675552 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C4013102 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C4016358 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch UMLS:C4551999 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:9942 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:PRPH2 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch ncbigene:5961 semapv:UnspecifiedMatching +OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:3385 semapv:UnspecifiedMatching +OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:EPHA1 semapv:UnspecifiedMatching +OMIM:179610 EPHA1 skos:exactMatch ncbigene:2041 semapv:UnspecifiedMatching +OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:3387 semapv:UnspecifiedMatching +OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:EPHA3 semapv:UnspecifiedMatching +OMIM:179611 EPHA3 skos:exactMatch ncbigene:2042 semapv:UnspecifiedMatching +OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch MONDO:0008365 semapv:UnspecifiedMatching +OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch Orphanet:96167 semapv:UnspecifiedMatching +OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch UMLS:C0795822 semapv:UnspecifiedMatching +OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:9831 semapv:UnspecifiedMatching +OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:RAG1 semapv:UnspecifiedMatching +OMIM:179615 RAG1 skos:exactMatch ncbigene:5896 semapv:UnspecifiedMatching +OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:9832 semapv:UnspecifiedMatching +OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:RAG2 semapv:UnspecifiedMatching +OMIM:179616 RAG2 skos:exactMatch ncbigene:5897 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch UMLS:C1419240 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch UMLS:C3281089 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch UMLS:C4016360 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:9817 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:RAD51 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch ncbigene:5888 semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch UMLS:C1419326 semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:9937 semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:RCVRN semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch ncbigene:5957 semapv:UnspecifiedMatching +OMIM:179650 red cell permeability defect skos:exactMatch MONDO:0008366 semapv:UnspecifiedMatching +OMIM:179700 red cell phospholipid defect with hemolysis skos:exactMatch MONDO:0008367 semapv:UnspecifiedMatching +OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:1913 semapv:UnspecifiedMatching +OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:RCC1 semapv:UnspecifiedMatching +OMIM:179710 RCC1 skos:exactMatch ncbigene:1104 semapv:UnspecifiedMatching +OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:10026 semapv:UnspecifiedMatching +OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:RLN1 semapv:UnspecifiedMatching +OMIM:179730 RLN1 skos:exactMatch ncbigene:6013 semapv:UnspecifiedMatching +OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:10027 semapv:UnspecifiedMatching +OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:RLN2 semapv:UnspecifiedMatching +OMIM:179740 RLN2 skos:exactMatch ncbigene:6019 semapv:UnspecifiedMatching +OMIM:179755 PRCC skos:exactMatch hgnc.symbol:9343 semapv:UnspecifiedMatching +OMIM:179755 PRCC skos:exactMatch hgnc.symbol:PRCC semapv:UnspecifiedMatching +OMIM:179755 PRCC skos:exactMatch ncbigene:5546 semapv:UnspecifiedMatching +OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:3002 semapv:UnspecifiedMatching +OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:DPEP1 semapv:UnspecifiedMatching +OMIM:179780 DPEP1 skos:exactMatch ncbigene:1800 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch MONDO:0008368 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching +OMIM:179820 REN skos:exactMatch hgnc.symbol:9958 semapv:UnspecifiedMatching +OMIM:179820 REN skos:exactMatch hgnc.symbol:REN semapv:UnspecifiedMatching +OMIM:179820 REN skos:exactMatch ncbigene:5972 semapv:UnspecifiedMatching +OMIM:179830 renal tubular acidosis, proximal skos:exactMatch MONDO:0008369 semapv:UnspecifiedMatching +OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:10289 semapv:UnspecifiedMatching +OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:RPA1 semapv:UnspecifiedMatching +OMIM:179835 RPA1 skos:exactMatch ncbigene:6117 semapv:UnspecifiedMatching +OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:10290 semapv:UnspecifiedMatching +OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:RPA2 semapv:UnspecifiedMatching +OMIM:179836 RPA2 skos:exactMatch ncbigene:6118 semapv:UnspecifiedMatching +OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:10291 semapv:UnspecifiedMatching +OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:RPA3 semapv:UnspecifiedMatching +OMIM:179837 RPA3 skos:exactMatch ncbigene:6119 semapv:UnspecifiedMatching +OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:10461 semapv:UnspecifiedMatching +OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:CLIP1 semapv:UnspecifiedMatching +OMIM:179838 CLIP1 skos:exactMatch ncbigene:6249 semapv:UnspecifiedMatching +OMIM:179840 reticular dystrophy of retinal pigment epithelium skos:exactMatch MONDO:0009979 semapv:UnspecifiedMatching +OMIM:179850 dowling-degos disease 1 skos:exactMatch MONDO:0024534 semapv:UnspecifiedMatching +OMIM:179900 retinal aplasia skos:exactMatch MONDO:0008372 semapv:UnspecifiedMatching +OMIM:180000 retinal arteries, tortuosity of skos:exactMatch MONDO:0008373 semapv:UnspecifiedMatching +OMIM:180020 retinal cone dystrophy 1 skos:exactMatch MONDO:0008374 semapv:UnspecifiedMatching +OMIM:180040 RD3 skos:exactMatch hgnc.symbol:19689 semapv:UnspecifiedMatching +OMIM:180040 RD3 skos:exactMatch hgnc.symbol:RD3 semapv:UnspecifiedMatching +OMIM:180040 RD3 skos:exactMatch ncbigene:343035 semapv:UnspecifiedMatching +OMIM:180050 retinal detachment skos:exactMatch MONDO:0008375 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch UMLS:C1419622 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch UMLS:C1859844 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch UMLS:C3151086 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch hgnc.symbol:10294 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch hgnc.symbol:RPE65 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch ncbigene:6121 semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch UMLS:C1418425 semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch UMLS:C3151139 semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch hgnc.symbol:8785 semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch hgnc.symbol:PDE6A semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch ncbigene:5145 semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch UMLS:C1418426 semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch UMLS:C1876182 semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch UMLS:C3151107 semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch hgnc.symbol:8786 semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch hgnc.symbol:PDE6B semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch ncbigene:5158 semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch UMLS:C1418429 semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch UMLS:C3150821 semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch hgnc.symbol:8789 semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch hgnc.symbol:PDE6G semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch ncbigene:5148 semapv:UnspecifiedMatching +OMIM:180080 retinal venous beading skos:exactMatch MONDO:0008376 semapv:UnspecifiedMatching +OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:10024 semapv:UnspecifiedMatching +OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:RLBP1 semapv:UnspecifiedMatching +OMIM:180090 RLBP1 skos:exactMatch ncbigene:6017 semapv:UnspecifiedMatching +OMIM:180100 retinitis pigmentosa 1 skos:exactMatch MONDO:0008377 semapv:UnspecifiedMatching +OMIM:180104 retinitis pigmentosa 9 skos:exactMatch MONDO:0008378 semapv:UnspecifiedMatching +OMIM:180105 retinitis pigmentosa 10 skos:exactMatch MONDO:0008379 semapv:UnspecifiedMatching +OMIM:180190 RARG skos:exactMatch hgnc.symbol:9866 semapv:UnspecifiedMatching +OMIM:180190 RARG skos:exactMatch hgnc.symbol:RARG semapv:UnspecifiedMatching +OMIM:180190 RARG skos:exactMatch ncbigene:5916 semapv:UnspecifiedMatching +OMIM:180200 retinoblastoma skos:exactMatch MONDO:0018160 semapv:UnspecifiedMatching +OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:9885 semapv:UnspecifiedMatching +OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:ARID4A semapv:UnspecifiedMatching +OMIM:180201 ARID4A skos:exactMatch ncbigene:5926 semapv:UnspecifiedMatching +OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:9886 semapv:UnspecifiedMatching +OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:KDM5A semapv:UnspecifiedMatching +OMIM:180202 KDM5A skos:exactMatch ncbigene:5927 semapv:UnspecifiedMatching +OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:9894 semapv:UnspecifiedMatching +OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:RBL2 semapv:UnspecifiedMatching +OMIM:180203 RBL2 skos:exactMatch ncbigene:5934 semapv:UnspecifiedMatching +OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch MONDO:0008381 semapv:UnspecifiedMatching +OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch UMLS:C1867261 semapv:UnspecifiedMatching +OMIM:180220 RARB skos:exactMatch hgnc.symbol:9865 semapv:UnspecifiedMatching +OMIM:180220 RARB skos:exactMatch hgnc.symbol:RARB semapv:UnspecifiedMatching +OMIM:180220 RARB skos:exactMatch ncbigene:5915 semapv:UnspecifiedMatching +OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:2338 semapv:UnspecifiedMatching +OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:CRABP1 semapv:UnspecifiedMatching +OMIM:180230 CRABP1 skos:exactMatch ncbigene:1381 semapv:UnspecifiedMatching +OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:2339 semapv:UnspecifiedMatching +OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:CRABP2 semapv:UnspecifiedMatching +OMIM:180231 CRABP2 skos:exactMatch ncbigene:1382 semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch UMLS:C1366536 semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch hgnc.symbol:9864 semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch hgnc.symbol:RARA semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch ncbigene:5914 semapv:UnspecifiedMatching +OMIM:180245 RXRA skos:exactMatch hgnc.symbol:10477 semapv:UnspecifiedMatching +OMIM:180245 RXRA skos:exactMatch hgnc.symbol:RXRA semapv:UnspecifiedMatching +OMIM:180245 RXRA skos:exactMatch ncbigene:6256 semapv:UnspecifiedMatching +OMIM:180246 RXRB skos:exactMatch hgnc.symbol:10478 semapv:UnspecifiedMatching +OMIM:180246 RXRB skos:exactMatch hgnc.symbol:RXRB semapv:UnspecifiedMatching +OMIM:180246 RXRB skos:exactMatch ncbigene:6257 semapv:UnspecifiedMatching +OMIM:180247 RXRG skos:exactMatch hgnc.symbol:10479 semapv:UnspecifiedMatching +OMIM:180247 RXRG skos:exactMatch hgnc.symbol:RXRG semapv:UnspecifiedMatching +OMIM:180247 RXRG skos:exactMatch ncbigene:6258 semapv:UnspecifiedMatching +OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:9922 semapv:UnspecifiedMatching +OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:RBP4 semapv:UnspecifiedMatching +OMIM:180250 RBP4 skos:exactMatch ncbigene:5950 semapv:UnspecifiedMatching +OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:9919 semapv:UnspecifiedMatching +OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:RBP1 semapv:UnspecifiedMatching +OMIM:180260 RBP1 skos:exactMatch ncbigene:5947 semapv:UnspecifiedMatching +OMIM:180270 retinoschisis, autosomal dominant skos:exactMatch MONDO:0008382 semapv:UnspecifiedMatching +OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:9920 semapv:UnspecifiedMatching +OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:RBP2 semapv:UnspecifiedMatching +OMIM:180280 RBP2 skos:exactMatch ncbigene:5948 semapv:UnspecifiedMatching +OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:9921 semapv:UnspecifiedMatching +OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:RBP3 semapv:UnspecifiedMatching +OMIM:180290 RBP3 skos:exactMatch ncbigene:5949 semapv:UnspecifiedMatching +OMIM:180295 rhabdomyosarcoma, embryonal, 2 skos:exactMatch MONDO:0859046 semapv:UnspecifiedMatching +OMIM:180297 RHAG skos:exactMatch hgnc.symbol:10006 semapv:UnspecifiedMatching +OMIM:180297 RHAG skos:exactMatch hgnc.symbol:RHAG semapv:UnspecifiedMatching +OMIM:180297 RHAG skos:exactMatch ncbigene:6005 semapv:UnspecifiedMatching +OMIM:180300 rheumatoid arthritis skos:exactMatch MONDO:0008383 semapv:UnspecifiedMatching +OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C0003873 semapv:UnspecifiedMatching +OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching +OMIM:180350 rheumatoid nodulosis skos:exactMatch MONDO:0008384 semapv:UnspecifiedMatching +OMIM:180360 rhiny skos:exactMatch MONDO:0008385 semapv:UnspecifiedMatching +OMIM:180370 TST skos:exactMatch hgnc.symbol:12388 semapv:UnspecifiedMatching +OMIM:180370 TST skos:exactMatch hgnc.symbol:TST semapv:UnspecifiedMatching +OMIM:180370 TST skos:exactMatch ncbigene:7263 semapv:UnspecifiedMatching +OMIM:180380 RHO skos:exactMatch hgnc.symbol:10012 semapv:UnspecifiedMatching +OMIM:180380 RHO skos:exactMatch hgnc.symbol:RHO semapv:UnspecifiedMatching +OMIM:180380 RHO skos:exactMatch ncbigene:6010 semapv:UnspecifiedMatching +OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:10013 semapv:UnspecifiedMatching +OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:GRK1 semapv:UnspecifiedMatching +OMIM:180381 GRK1 skos:exactMatch ncbigene:6011 semapv:UnspecifiedMatching +OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:6642 semapv:UnspecifiedMatching +OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:LMO2 semapv:UnspecifiedMatching +OMIM:180385 LMO2 skos:exactMatch ncbigene:4005 semapv:UnspecifiedMatching +OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:6643 semapv:UnspecifiedMatching +OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:LMO3 semapv:UnspecifiedMatching +OMIM:180386 LMO3 skos:exactMatch ncbigene:55885 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch UMLS:C1335649 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:10452 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:RRM2 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch ncbigene:6241 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch UMLS:C1335648 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:10451 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:RRM1 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch ncbigene:6240 semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch UMLS:C1291609 semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch UMLS:C1419625 semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch hgnc.symbol:10297 semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch hgnc.symbol:RPIA semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch ncbigene:22934 semapv:UnspecifiedMatching +OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:10050 semapv:UnspecifiedMatching +OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:RNASEL semapv:UnspecifiedMatching +OMIM:180435 RNASEL skos:exactMatch ncbigene:6041 semapv:UnspecifiedMatching +OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:10044 semapv:UnspecifiedMatching +OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:RNASE1 semapv:UnspecifiedMatching +OMIM:180440 RNASE1 skos:exactMatch ncbigene:6035 semapv:UnspecifiedMatching +OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:10082 semapv:UnspecifiedMatching +OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:RNR1 semapv:UnspecifiedMatching +OMIM:180450 RNR1 skos:exactMatch ncbigene:6052 semapv:UnspecifiedMatching +OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:10083 semapv:UnspecifiedMatching +OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:RNR2 semapv:UnspecifiedMatching +OMIM:180451 RNR2 skos:exactMatch ncbigene:6053 semapv:UnspecifiedMatching +OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:10084 semapv:UnspecifiedMatching +OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:RNR3 semapv:UnspecifiedMatching +OMIM:180452 RNR3 skos:exactMatch ncbigene:6054 semapv:UnspecifiedMatching +OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:10085 semapv:UnspecifiedMatching +OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:RNR4 semapv:UnspecifiedMatching +OMIM:180453 RNR4 skos:exactMatch ncbigene:6055 semapv:UnspecifiedMatching +OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:10086 semapv:UnspecifiedMatching +OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:RNR5 semapv:UnspecifiedMatching +OMIM:180454 RNR5 skos:exactMatch ncbigene:6056 semapv:UnspecifiedMatching +OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:10429 semapv:UnspecifiedMatching +OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:RPS6 semapv:UnspecifiedMatching +OMIM:180460 RPS6 skos:exactMatch ncbigene:6194 semapv:UnspecifiedMatching +OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:10406 semapv:UnspecifiedMatching +OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:RPS20P3 semapv:UnspecifiedMatching +OMIM:180463 RPS20A skos:exactMatch ncbigene:6225 semapv:UnspecifiedMatching +OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:10407 semapv:UnspecifiedMatching +OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:RPS20P4 semapv:UnspecifiedMatching +OMIM:180464 RPS20B skos:exactMatch ncbigene:6226 semapv:UnspecifiedMatching +OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:10413 semapv:UnspecifiedMatching +OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:RPS25 semapv:UnspecifiedMatching +OMIM:180465 RPS25 skos:exactMatch ncbigene:6230 semapv:UnspecifiedMatching +OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:10312 semapv:UnspecifiedMatching +OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:RPL19 semapv:UnspecifiedMatching +OMIM:180466 RPL19 skos:exactMatch ncbigene:6143 semapv:UnspecifiedMatching +OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:10333 semapv:UnspecifiedMatching +OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:RPL30 semapv:UnspecifiedMatching +OMIM:180467 RPL30 skos:exactMatch ncbigene:6156 semapv:UnspecifiedMatching +OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:10345 semapv:UnspecifiedMatching +OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:RPL35A semapv:UnspecifiedMatching +OMIM:180468 RPL35A skos:exactMatch ncbigene:6165 semapv:UnspecifiedMatching +OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:10346 semapv:UnspecifiedMatching +OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:RPL36AL semapv:UnspecifiedMatching +OMIM:180469 RPL36AL skos:exactMatch ncbigene:6166 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch UMLS:C1419697 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:10381 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:RPN1 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch ncbigene:6184 semapv:UnspecifiedMatching +OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:10384 semapv:UnspecifiedMatching +OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:RPS11 semapv:UnspecifiedMatching +OMIM:180471 RPS11 skos:exactMatch ncbigene:6205 semapv:UnspecifiedMatching +OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:10397 semapv:UnspecifiedMatching +OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:RPS17 semapv:UnspecifiedMatching +OMIM:180472 RPS17 skos:exactMatch ncbigene:6218 semapv:UnspecifiedMatching +OMIM:180473 RPS18 skos:exactMatch hgnc.symbol:10401 semapv:UnspecifiedMatching +OMIM:180473 RPS18 skos:exactMatch hgnc.symbol:RPS18 semapv:UnspecifiedMatching +OMIM:180473 RPS18 skos:exactMatch ncbigene:6222 semapv:UnspecifiedMatching +OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:10315 semapv:UnspecifiedMatching +OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:RPL22 semapv:UnspecifiedMatching +OMIM:180474 RPL22 skos:exactMatch ncbigene:6146 semapv:UnspecifiedMatching +OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:10302 semapv:UnspecifiedMatching +OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:RPL12 semapv:UnspecifiedMatching +OMIM:180475 RPL12 skos:exactMatch ncbigene:6136 semapv:UnspecifiedMatching +OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:10386 semapv:UnspecifiedMatching +OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:RPS13 semapv:UnspecifiedMatching +OMIM:180476 RPS13 skos:exactMatch ncbigene:6207 semapv:UnspecifiedMatching +OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:10409 semapv:UnspecifiedMatching +OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:RPS21 semapv:UnspecifiedMatching +OMIM:180477 RPS21 skos:exactMatch ncbigene:6227 semapv:UnspecifiedMatching +OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:10421 semapv:UnspecifiedMatching +OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:RPS3A semapv:UnspecifiedMatching +OMIM:180478 RPS3A skos:exactMatch ncbigene:6189 semapv:UnspecifiedMatching +OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:10353 semapv:UnspecifiedMatching +OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:RPL4 semapv:UnspecifiedMatching +OMIM:180479 RPL4 skos:exactMatch ncbigene:6124 semapv:UnspecifiedMatching +OMIM:180480 RPE skos:exactMatch hgnc.symbol:10293 semapv:UnspecifiedMatching +OMIM:180480 RPE skos:exactMatch hgnc.symbol:RPE semapv:UnspecifiedMatching +OMIM:180480 RPE skos:exactMatch ncbigene:6120 semapv:UnspecifiedMatching +OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:10382 semapv:UnspecifiedMatching +OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:RPN2 semapv:UnspecifiedMatching +OMIM:180490 RPN2 skos:exactMatch ncbigene:6185 semapv:UnspecifiedMatching +OMIM:180500 axenfeld-rieger syndrome, iia 1 skos:exactMatch MONDO:0008386 semapv:UnspecifiedMatching +OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:10371 semapv:UnspecifiedMatching +OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:RPLP0 semapv:UnspecifiedMatching +OMIM:180510 RPLP0 skos:exactMatch ncbigene:6175 semapv:UnspecifiedMatching +OMIM:180520 RPLP1 skos:exactMatch hgnc.symbol:10372 semapv:UnspecifiedMatching +OMIM:180520 RPLP1 skos:exactMatch hgnc.symbol:RPLP1 semapv:UnspecifiedMatching +OMIM:180520 RPLP1 skos:exactMatch ncbigene:6176 semapv:UnspecifiedMatching +OMIM:180530 RPLP2 skos:exactMatch hgnc.symbol:10377 semapv:UnspecifiedMatching +OMIM:180530 RPLP2 skos:exactMatch hgnc.symbol:RPLP2 semapv:UnspecifiedMatching +OMIM:180530 RPLP2 skos:exactMatch ncbigene:6181 semapv:UnspecifiedMatching +OMIM:180535 RPS15 skos:exactMatch hgnc.symbol:10388 semapv:UnspecifiedMatching +OMIM:180535 RPS15 skos:exactMatch hgnc.symbol:RPS15 semapv:UnspecifiedMatching +OMIM:180535 RPS15 skos:exactMatch ncbigene:6209 semapv:UnspecifiedMatching +OMIM:180550 ring dermoid of cornea skos:exactMatch MONDO:0008387 semapv:UnspecifiedMatching +OMIM:180550 ring dermoid of cornea skos:exactMatch Orphanet:91481 semapv:UnspecifiedMatching +OMIM:180550 ring dermoid of cornea skos:exactMatch UMLS:C1867155 semapv:UnspecifiedMatching +OMIM:180600 ringed hair skos:exactMatch MONDO:0008388 semapv:UnspecifiedMatching +OMIM:180610 RLF skos:exactMatch hgnc.symbol:10025 semapv:UnspecifiedMatching +OMIM:180610 RLF skos:exactMatch hgnc.symbol:RLF semapv:UnspecifiedMatching +OMIM:180610 RLF skos:exactMatch ncbigene:6018 semapv:UnspecifiedMatching +OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc.symbol:12322 semapv:UnspecifiedMatching +OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc.symbol:TRX-CAT2-1 semapv:UnspecifiedMatching +OMIM:180620 TRX-CAT2-1 skos:exactMatch ncbigene:7212 semapv:UnspecifiedMatching +OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:12318 semapv:UnspecifiedMatching +OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:TRX-CAT1-2 semapv:UnspecifiedMatching +OMIM:180621 TRX-CAT1-2 skos:exactMatch ncbigene:7210 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch UMLS:C1413963 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:2746 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:DDX5 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch ncbigene:1655 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch UMLS:C1421113 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:12265 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:TRE-TTC3-1 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch ncbigene:7193 semapv:UnspecifiedMatching +OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:10115 semapv:UnspecifiedMatching +OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:SNORA73A semapv:UnspecifiedMatching +OMIM:180645 SNORA73A skos:exactMatch ncbigene:6080 semapv:UnspecifiedMatching +OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:10107 semapv:UnspecifiedMatching +OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:SNORA62 semapv:UnspecifiedMatching +OMIM:180646 SNORA62 skos:exactMatch ncbigene:6044 semapv:UnspecifiedMatching +OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:10106 semapv:UnspecifiedMatching +OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:SNORA63 semapv:UnspecifiedMatching +OMIM:180647 SNORA63 skos:exactMatch ncbigene:6043 semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch UMLS:C1335231 semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch UMLS:C5231423 semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:9187 semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:POLR2A semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch ncbigene:5430 semapv:UnspecifiedMatching +OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:9188 semapv:UnspecifiedMatching +OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:POLR2B semapv:UnspecifiedMatching +OMIM:180661 POLR2B skos:exactMatch ncbigene:5431 semapv:UnspecifiedMatching +OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:9196 semapv:UnspecifiedMatching +OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:POLR2I semapv:UnspecifiedMatching +OMIM:180662 POLR2I skos:exactMatch ncbigene:5438 semapv:UnspecifiedMatching +OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:9189 semapv:UnspecifiedMatching +OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:POLR2C semapv:UnspecifiedMatching +OMIM:180663 POLR2C skos:exactMatch ncbigene:5432 semapv:UnspecifiedMatching +OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:9192 semapv:UnspecifiedMatching +OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:POLR2E semapv:UnspecifiedMatching +OMIM:180664 POLR2E skos:exactMatch ncbigene:5434 semapv:UnspecifiedMatching +OMIM:180680 RNU1A skos:exactMatch UMLS:C1419475 semapv:UnspecifiedMatching +OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:10128 semapv:UnspecifiedMatching +OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:RNU1-4 semapv:UnspecifiedMatching +OMIM:180680 RNU1A skos:exactMatch ncbigene:6060 semapv:UnspecifiedMatching +OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:10142 semapv:UnspecifiedMatching +OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:RNU2-1 semapv:UnspecifiedMatching +OMIM:180690 RNU2-1 skos:exactMatch ncbigene:6066 semapv:UnspecifiedMatching +OMIM:180691 RNU5A-1 skos:exactMatch hgnc.symbol:10211 semapv:UnspecifiedMatching +OMIM:180691 RNU5A-1 skos:exactMatch hgnc.symbol:RNU5A-1 semapv:UnspecifiedMatching +OMIM:180691 RNU5A-1 skos:exactMatch ncbigene:26831 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch UMLS:C1419574 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:10227 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:RNU6-1 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch ncbigene:26827 semapv:UnspecifiedMatching +OMIM:180700 robinow syndrome, autosomal dominant 1 skos:exactMatch MONDO:0024455 semapv:UnspecifiedMatching +OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:33189 semapv:UnspecifiedMatching +OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:SNORD3A semapv:UnspecifiedMatching +OMIM:180710 SNORD3A skos:exactMatch ncbigene:780851 semapv:UnspecifiedMatching +OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:10254 semapv:UnspecifiedMatching +OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:ROM1 semapv:UnspecifiedMatching +OMIM:180721 ROM1 skos:exactMatch ncbigene:6094 semapv:UnspecifiedMatching +OMIM:180730 rombo syndrome skos:exactMatch MONDO:0008390 semapv:UnspecifiedMatching +OMIM:180740 SNRNP70 skos:exactMatch UMLS:C1420282 semapv:UnspecifiedMatching +OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:11150 semapv:UnspecifiedMatching +OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:SNRNP70 semapv:UnspecifiedMatching +OMIM:180740 SNRNP70 skos:exactMatch ncbigene:6625 semapv:UnspecifiedMatching +OMIM:180750 robinow-sorauf syndrome skos:exactMatch MONDO:0008391 semapv:UnspecifiedMatching +OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch MONDO:0008392 semapv:UnspecifiedMatching +OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch Orphanet:3115 semapv:UnspecifiedMatching +OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching +OMIM:180849 rubinstein-taybi syndrome 1 skos:exactMatch MONDO:0008393 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch MONDO:0020796 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C5393125 semapv:UnspecifiedMatching +OMIM:180870 ruvalcaba syndrome skos:exactMatch MONDO:0008395 semapv:UnspecifiedMatching +OMIM:180900 rutherfurd syndrome skos:exactMatch MONDO:0008396 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C1419778 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C1840365 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C2930980 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch UMLS:C4016368 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch hgnc.symbol:10483 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch hgnc.symbol:RYR1 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch ncbigene:6261 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch UMLS:C1419779 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch UMLS:C1832931 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch UMLS:C4016369 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:10484 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:RYR2 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch ncbigene:6262 semapv:UnspecifiedMatching +OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:10485 semapv:UnspecifiedMatching +OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:RYR3 semapv:UnspecifiedMatching +OMIM:180903 RYR3 skos:exactMatch ncbigene:6263 semapv:UnspecifiedMatching +OMIM:180920 aplasia of lacrimal and salivary glands skos:exactMatch MONDO:0008397 semapv:UnspecifiedMatching +OMIM:180950 salivary substance, clostridium botulinum iia skos:exactMatch MONDO:0008398 semapv:UnspecifiedMatching +OMIM:180950 salivary substance, clostridium botulinum iia skos:exactMatch UMLS:C1867056 semapv:UnspecifiedMatching +OMIM:180960 AHCY skos:exactMatch hgnc.symbol:343 semapv:UnspecifiedMatching +OMIM:180960 AHCY skos:exactMatch hgnc.symbol:AHCY semapv:UnspecifiedMatching +OMIM:180960 AHCY skos:exactMatch ncbigene:191 semapv:UnspecifiedMatching +OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:457 semapv:UnspecifiedMatching +OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:AMD1 semapv:UnspecifiedMatching +OMIM:180980 AMD1 skos:exactMatch ncbigene:262 semapv:UnspecifiedMatching +OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:9337 semapv:UnspecifiedMatching +OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:PRB1 semapv:UnspecifiedMatching +OMIM:180989 PRB1 skos:exactMatch ncbigene:5542 semapv:UnspecifiedMatching +OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:9340 semapv:UnspecifiedMatching +OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:PRB4 semapv:UnspecifiedMatching +OMIM:180990 PRB4 skos:exactMatch ncbigene:5545 semapv:UnspecifiedMatching +OMIM:181000 sarcoidosis, susceptibility to, 1 skos:exactMatch MONDO:0008399 semapv:UnspecifiedMatching +OMIM:181010 salivary duct calculi skos:exactMatch MONDO:0008400 semapv:UnspecifiedMatching +OMIM:181030 salivary gland adenoma, pleomorphic skos:exactMatch MONDO:0008401 semapv:UnspecifiedMatching +OMIM:181031 SAG skos:exactMatch hgnc.symbol:10521 semapv:UnspecifiedMatching +OMIM:181031 SAG skos:exactMatch hgnc.symbol:SAG semapv:UnspecifiedMatching +OMIM:181031 SAG skos:exactMatch ncbigene:6295 semapv:UnspecifiedMatching +OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:10539 semapv:UnspecifiedMatching +OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:TSPAN31 semapv:UnspecifiedMatching +OMIM:181035 TSPAN31 skos:exactMatch ncbigene:6302 semapv:UnspecifiedMatching +OMIM:181180 say syndrome skos:exactMatch MONDO:0008402 semapv:UnspecifiedMatching +OMIM:181250 scalp defects and postaxial polydactyly skos:exactMatch MONDO:0008403 semapv:UnspecifiedMatching +OMIM:181270 scalp-ear-nipple syndrome skos:exactMatch MONDO:0008404 semapv:UnspecifiedMatching +OMIM:181300 scapula, contour of vertebral border of skos:exactMatch MONDO:0008405 semapv:UnspecifiedMatching +OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch MONDO:0021569 semapv:UnspecifiedMatching +OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia skos:exactMatch MONDO:0008407 semapv:UnspecifiedMatching +OMIM:181405 scapuloperoneal spinal muscular atrophy skos:exactMatch MONDO:0008408 semapv:UnspecifiedMatching +OMIM:181440 scheuermann disease skos:exactMatch MONDO:0008410 semapv:UnspecifiedMatching +OMIM:181450 ulnar-mammary syndrome skos:exactMatch MONDO:0008411 semapv:UnspecifiedMatching +OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch MONDO:0859050 semapv:UnspecifiedMatching +OMIM:181500 schizophrenia skos:exactMatch MONDO:0005090 semapv:UnspecifiedMatching +OMIM:181500 schizophrenia skos:exactMatch UMLS:C0036341 semapv:UnspecifiedMatching +OMIM:181500 schizophrenia skos:exactMatch UMLS:C4538533 semapv:UnspecifiedMatching +OMIM:181510 schizophrenia 1 skos:exactMatch MONDO:0008414 semapv:UnspecifiedMatching +OMIM:181515 skos:exactMatch MONDO:0008415 semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch UMLS:C1420065 semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch hgnc.symbol:10879 semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch hgnc.symbol:STIL semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch ncbigene:6491 semapv:UnspecifiedMatching +OMIM:181600 huriez syndrome skos:exactMatch MONDO:0008416 semapv:UnspecifiedMatching +OMIM:181700 sclerocornea, autosomal dominant skos:exactMatch MONDO:0008417 semapv:UnspecifiedMatching +OMIM:181750 scleroderma, familial progressive skos:exactMatch MONDO:0008418 semapv:UnspecifiedMatching +OMIM:181800 scoliosis, isolated, susceptibility to, 1 skos:exactMatch MONDO:0008419 semapv:UnspecifiedMatching +OMIM:182000 keratosis, seborrheic skos:exactMatch MONDO:0008420 semapv:UnspecifiedMatching +OMIM:182090 SSAV1 skos:exactMatch ncbigene:6739 semapv:UnspecifiedMatching +OMIM:182098 SCTR skos:exactMatch hgnc.symbol:10608 semapv:UnspecifiedMatching +OMIM:182098 SCTR skos:exactMatch hgnc.symbol:SCTR semapv:UnspecifiedMatching +OMIM:182098 SCTR skos:exactMatch ncbigene:6344 semapv:UnspecifiedMatching +OMIM:182099 SCT skos:exactMatch hgnc.symbol:10607 semapv:UnspecifiedMatching +OMIM:182099 SCT skos:exactMatch hgnc.symbol:SCT semapv:UnspecifiedMatching +OMIM:182099 SCT skos:exactMatch ncbigene:6343 semapv:UnspecifiedMatching +OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:4013 semapv:UnspecifiedMatching +OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:FUT2 semapv:UnspecifiedMatching +OMIM:182100 FUT2 skos:exactMatch ncbigene:2524 semapv:UnspecifiedMatching +OMIM:182115 CYTH1 skos:exactMatch hgnc.symbol:9501 semapv:UnspecifiedMatching +OMIM:182115 CYTH1 skos:exactMatch hgnc.symbol:CYTH1 semapv:UnspecifiedMatching +OMIM:182115 CYTH1 skos:exactMatch ncbigene:9267 semapv:UnspecifiedMatching +OMIM:182120 SPARC skos:exactMatch hgnc.symbol:11219 semapv:UnspecifiedMatching +OMIM:182120 SPARC skos:exactMatch hgnc.symbol:SPARC semapv:UnspecifiedMatching +OMIM:182120 SPARC skos:exactMatch ncbigene:6678 semapv:UnspecifiedMatching +OMIM:182125 SPR skos:exactMatch hgnc.symbol:11257 semapv:UnspecifiedMatching +OMIM:182125 SPR skos:exactMatch hgnc.symbol:SPR semapv:UnspecifiedMatching +OMIM:182125 SPR skos:exactMatch ncbigene:6697 semapv:UnspecifiedMatching +OMIM:182128 SDS skos:exactMatch hgnc.symbol:10691 semapv:UnspecifiedMatching +OMIM:182128 SDS skos:exactMatch hgnc.symbol:SDS semapv:UnspecifiedMatching +OMIM:182128 SDS skos:exactMatch ncbigene:10993 semapv:UnspecifiedMatching +OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:5287 semapv:UnspecifiedMatching +OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:HTR1B semapv:UnspecifiedMatching +OMIM:182131 HTR1B skos:exactMatch ncbigene:3351 semapv:UnspecifiedMatching +OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:5291 semapv:UnspecifiedMatching +OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:HTR1E semapv:UnspecifiedMatching +OMIM:182132 HTR1E skos:exactMatch ncbigene:3354 semapv:UnspecifiedMatching +OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:5289 semapv:UnspecifiedMatching +OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:HTR1D semapv:UnspecifiedMatching +OMIM:182133 HTR1D skos:exactMatch ncbigene:3352 semapv:UnspecifiedMatching +OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:5292 semapv:UnspecifiedMatching +OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:HTR1F semapv:UnspecifiedMatching +OMIM:182134 HTR1F skos:exactMatch ncbigene:3355 semapv:UnspecifiedMatching +OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:5293 semapv:UnspecifiedMatching +OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:HTR2A semapv:UnspecifiedMatching +OMIM:182135 HTR2A skos:exactMatch ncbigene:3356 semapv:UnspecifiedMatching +OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:5302 semapv:UnspecifiedMatching +OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:HTR7 semapv:UnspecifiedMatching +OMIM:182137 HTR7 skos:exactMatch ncbigene:3363 semapv:UnspecifiedMatching +OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:11050 semapv:UnspecifiedMatching +OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:SLC6A4 semapv:UnspecifiedMatching +OMIM:182138 SLC6A4 skos:exactMatch ncbigene:6532 semapv:UnspecifiedMatching +OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:5297 semapv:UnspecifiedMatching +OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:HTR3A semapv:UnspecifiedMatching +OMIM:182139 HTR3A skos:exactMatch ncbigene:3359 semapv:UnspecifiedMatching +OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:10742 semapv:UnspecifiedMatching +OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:SEMG1 semapv:UnspecifiedMatching +OMIM:182140 SEMG1 skos:exactMatch ncbigene:6406 semapv:UnspecifiedMatching +OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:10743 semapv:UnspecifiedMatching +OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:SEMG2 semapv:UnspecifiedMatching +OMIM:182141 SEMG2 skos:exactMatch ncbigene:6407 semapv:UnspecifiedMatching +OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:10850 semapv:UnspecifiedMatching +OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:SHMT1 semapv:UnspecifiedMatching +OMIM:182144 SHMT1 skos:exactMatch ncbigene:6470 semapv:UnspecifiedMatching +OMIM:182150 simosa craniofacial syndrome skos:exactMatch MONDO:0008421 semapv:UnspecifiedMatching +OMIM:182160 SPN skos:exactMatch hgnc.symbol:11249 semapv:UnspecifiedMatching +OMIM:182160 SPN skos:exactMatch hgnc.symbol:SPN semapv:UnspecifiedMatching +OMIM:182160 SPN skos:exactMatch ncbigene:6693 semapv:UnspecifiedMatching +OMIM:182170 anemia, sideroblastic, 4 skos:exactMatch MONDO:0008422 semapv:UnspecifiedMatching +OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:11300 semapv:UnspecifiedMatching +OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:SRP19 semapv:UnspecifiedMatching +OMIM:182175 SRP19 skos:exactMatch ncbigene:6728 semapv:UnspecifiedMatching +OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:11307 semapv:UnspecifiedMatching +OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:SRPRA semapv:UnspecifiedMatching +OMIM:182180 SRPRA skos:exactMatch ncbigene:6734 semapv:UnspecifiedMatching +OMIM:182190 sinus node disease and myopia skos:exactMatch MONDO:0008423 semapv:UnspecifiedMatching +OMIM:182200 sella turcica, bridged skos:exactMatch MONDO:0008424 semapv:UnspecifiedMatching +OMIM:182205 SHBG skos:exactMatch hgnc.symbol:10839 semapv:UnspecifiedMatching +OMIM:182205 SHBG skos:exactMatch hgnc.symbol:SHBG semapv:UnspecifiedMatching +OMIM:182205 SHBG skos:exactMatch ncbigene:6462 semapv:UnspecifiedMatching +OMIM:182210 shprintzen omphalocele syndrome skos:exactMatch MONDO:0008425 semapv:UnspecifiedMatching +OMIM:182212 shprintzen-goldberg craniosynostosis syndrome skos:exactMatch MONDO:0008426 semapv:UnspecifiedMatching +OMIM:182220 sister chromatid exchange, frequency of skos:exactMatch MONDO:0008427 semapv:UnspecifiedMatching +OMIM:182230 septooptic dysplasia skos:exactMatch MONDO:0008428 semapv:UnspecifiedMatching +OMIM:182250 singleton-merten syndrome 1 skos:exactMatch MONDO:0024535 semapv:UnspecifiedMatching +OMIM:182255 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch MONDO:0008430 semapv:UnspecifiedMatching +OMIM:182257 PI3 skos:exactMatch hgnc.symbol:8947 semapv:UnspecifiedMatching +OMIM:182257 PI3 skos:exactMatch hgnc.symbol:PI3 semapv:UnspecifiedMatching +OMIM:182257 PI3 skos:exactMatch ncbigene:5266 semapv:UnspecifiedMatching +OMIM:182260 slipped femoral capital epiphyses skos:exactMatch MONDO:0008431 semapv:UnspecifiedMatching +OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:11259 semapv:UnspecifiedMatching +OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:SPRR1A semapv:UnspecifiedMatching +OMIM:182265 SPRR1A skos:exactMatch ncbigene:6698 semapv:UnspecifiedMatching +OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:11260 semapv:UnspecifiedMatching +OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:SPRR1B semapv:UnspecifiedMatching +OMIM:182266 SPRR1B skos:exactMatch ncbigene:6699 semapv:UnspecifiedMatching +OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:11261 semapv:UnspecifiedMatching +OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:SPRR2A semapv:UnspecifiedMatching +OMIM:182267 SPRR2A skos:exactMatch ncbigene:6700 semapv:UnspecifiedMatching +OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:11262 semapv:UnspecifiedMatching +OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:SPRR2B semapv:UnspecifiedMatching +OMIM:182268 SPRR2B skos:exactMatch ncbigene:6701 semapv:UnspecifiedMatching +OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:11263 semapv:UnspecifiedMatching +OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:SPRR2C semapv:UnspecifiedMatching +OMIM:182270 ketone compounds, ability to smell skos:exactMatch MONDO:0008432 semapv:UnspecifiedMatching +OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:11268 semapv:UnspecifiedMatching +OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:SPRR3 semapv:UnspecifiedMatching +OMIM:182271 SPRR3 skos:exactMatch ncbigene:6707 semapv:UnspecifiedMatching +OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:11164 semapv:UnspecifiedMatching +OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:SNRPN semapv:UnspecifiedMatching +OMIM:182279 SNRPN skos:exactMatch ncbigene:6638 semapv:UnspecifiedMatching +OMIM:182280 small cell cancer of the lung skos:exactMatch MONDO:0008433 semapv:UnspecifiedMatching +OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:10609 semapv:UnspecifiedMatching +OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:CCL1 semapv:UnspecifiedMatching +OMIM:182281 CCL1 skos:exactMatch ncbigene:6346 semapv:UnspecifiedMatching +OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:11153 semapv:UnspecifiedMatching +OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:SNRPB semapv:UnspecifiedMatching +OMIM:182282 SNRPB skos:exactMatch ncbigene:6628 semapv:UnspecifiedMatching +OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:10627 semapv:UnspecifiedMatching +OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:CCL3 semapv:UnspecifiedMatching +OMIM:182283 CCL3 skos:exactMatch ncbigene:6348 semapv:UnspecifiedMatching +OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:10630 semapv:UnspecifiedMatching +OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:CCL4 semapv:UnspecifiedMatching +OMIM:182284 CCL4 skos:exactMatch ncbigene:6351 semapv:UnspecifiedMatching +OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:11151 semapv:UnspecifiedMatching +OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:SNRPA semapv:UnspecifiedMatching +OMIM:182285 SNRPA skos:exactMatch ncbigene:6626 semapv:UnspecifiedMatching +OMIM:182290 smith-magenis syndrome skos:exactMatch MONDO:0008434 semapv:UnspecifiedMatching +OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:11068 semapv:UnspecifiedMatching +OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:SLC8A1 semapv:UnspecifiedMatching +OMIM:182305 SLC8A1 skos:exactMatch ncbigene:6546 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch UMLS:C1420234 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:11073 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:SLC9A3 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch ncbigene:6550 semapv:UnspecifiedMatching +OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:10929 semapv:UnspecifiedMatching +OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:SLC17A1 semapv:UnspecifiedMatching +OMIM:182308 SLC17A1 skos:exactMatch ncbigene:6568 semapv:UnspecifiedMatching +OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:11019 semapv:UnspecifiedMatching +OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:SLC34A1 semapv:UnspecifiedMatching +OMIM:182309 SLC34A1 skos:exactMatch ncbigene:6569 semapv:UnspecifiedMatching +OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:799 semapv:UnspecifiedMatching +OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:ATP1A1 semapv:UnspecifiedMatching +OMIM:182310 ATP1A1 skos:exactMatch ncbigene:476 semapv:UnspecifiedMatching +OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:804 semapv:UnspecifiedMatching +OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:ATP1B1 semapv:UnspecifiedMatching +OMIM:182330 ATP1B1 skos:exactMatch ncbigene:481 semapv:UnspecifiedMatching +OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:805 semapv:UnspecifiedMatching +OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:ATP1B2 semapv:UnspecifiedMatching +OMIM:182331 ATP1B2 skos:exactMatch ncbigene:482 semapv:UnspecifiedMatching +OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:800 semapv:UnspecifiedMatching +OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:ATP1A2 semapv:UnspecifiedMatching +OMIM:182340 ATP1A2 skos:exactMatch ncbigene:477 semapv:UnspecifiedMatching +OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:801 semapv:UnspecifiedMatching +OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:ATP1A3 semapv:UnspecifiedMatching +OMIM:182350 ATP1A3 skos:exactMatch ncbigene:478 semapv:UnspecifiedMatching +OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:13816 semapv:UnspecifiedMatching +OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:ATP12A semapv:UnspecifiedMatching +OMIM:182360 ATP12A skos:exactMatch ncbigene:479 semapv:UnspecifiedMatching +OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:11036 semapv:UnspecifiedMatching +OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:SLC5A1 semapv:UnspecifiedMatching +OMIM:182380 SLC5A1 skos:exactMatch ncbigene:6523 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch UMLS:C1420201 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch UMLS:C4016376 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:11037 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:SLC5A2 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch ncbigene:6524 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C1419856 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch UMLS:C4016377 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:10585 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:SCN1A semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch ncbigene:6323 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch UMLS:C1419858 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:10588 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:SCN2A semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch ncbigene:6326 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch UMLS:C1419861 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:10590 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:SCN3A semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch ncbigene:6328 semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch UMLS:C1419865 semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:10594 semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:SCN7A semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch ncbigene:6332 semapv:UnspecifiedMatching +OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:10905 semapv:UnspecifiedMatching +OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:SLC10A1 semapv:UnspecifiedMatching +OMIM:182396 SLC10A1 skos:exactMatch ncbigene:6554 semapv:UnspecifiedMatching +OMIM:182400 somatomedin, embryonic skos:exactMatch MONDO:0008435 semapv:UnspecifiedMatching +OMIM:182410 sneddon syndrome skos:exactMatch MONDO:0008436 semapv:UnspecifiedMatching +OMIM:182450 SST skos:exactMatch hgnc.symbol:11329 semapv:UnspecifiedMatching +OMIM:182450 SST skos:exactMatch hgnc.symbol:SST semapv:UnspecifiedMatching +OMIM:182450 SST skos:exactMatch ncbigene:6750 semapv:UnspecifiedMatching +OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:11330 semapv:UnspecifiedMatching +OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:SSTR1 semapv:UnspecifiedMatching +OMIM:182451 SSTR1 skos:exactMatch ncbigene:6751 semapv:UnspecifiedMatching +OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:11331 semapv:UnspecifiedMatching +OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:SSTR2 semapv:UnspecifiedMatching +OMIM:182452 SSTR2 skos:exactMatch ncbigene:6752 semapv:UnspecifiedMatching +OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:11332 semapv:UnspecifiedMatching +OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:SSTR3 semapv:UnspecifiedMatching +OMIM:182453 SSTR3 skos:exactMatch ncbigene:6753 semapv:UnspecifiedMatching +OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:11333 semapv:UnspecifiedMatching +OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:SSTR4 semapv:UnspecifiedMatching +OMIM:182454 SSTR4 skos:exactMatch ncbigene:6754 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch UMLS:C1335870 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch UMLS:C5436944 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:11334 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:SSTR5 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch ncbigene:6755 semapv:UnspecifiedMatching +OMIM:182465 SON skos:exactMatch hgnc.symbol:11183 semapv:UnspecifiedMatching +OMIM:182465 SON skos:exactMatch hgnc.symbol:SON semapv:UnspecifiedMatching +OMIM:182465 SON skos:exactMatch ncbigene:6651 semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch UMLS:C1420311 semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch hgnc.symbol:11184 semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch hgnc.symbol:SORD semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch ncbigene:6652 semapv:UnspecifiedMatching +OMIM:182520 SRI skos:exactMatch hgnc.symbol:11292 semapv:UnspecifiedMatching +OMIM:182520 SRI skos:exactMatch hgnc.symbol:SRI semapv:UnspecifiedMatching +OMIM:182520 SRI skos:exactMatch ncbigene:6717 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch UMLS:C1420314 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch UMLS:C4551558 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:11187 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:SOS1 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch ncbigene:6654 semapv:UnspecifiedMatching +OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:11756 semapv:UnspecifiedMatching +OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:TFF2 semapv:UnspecifiedMatching +OMIM:182590 TFF2 skos:exactMatch ncbigene:7032 semapv:UnspecifiedMatching +OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch MONDO:0008437 semapv:UnspecifiedMatching +OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch Orphanet:100984 semapv:UnspecifiedMatching +OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch UMLS:C2931355 semapv:UnspecifiedMatching +OMIM:182601 spastic paraplegia 4, autosomal dominant skos:exactMatch MONDO:0008438 semapv:UnspecifiedMatching +OMIM:182610 spastic paraplegia, epilepsy, and mental retardation skos:exactMatch MONDO:0008439 semapv:UnspecifiedMatching +OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy skos:exactMatch MONDO:0008440 semapv:UnspecifiedMatching +OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:11275 semapv:UnspecifiedMatching +OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:SPTBN1 semapv:UnspecifiedMatching +OMIM:182790 SPTBN1 skos:exactMatch ncbigene:6711 semapv:UnspecifiedMatching +OMIM:182800 spastic paraplegia with associated extrapyramidal signs skos:exactMatch MONDO:0008441 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch UMLS:C1420386 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:11273 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:SPTAN1 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch ncbigene:6709 semapv:UnspecifiedMatching +OMIM:182815 spastic paraplegia with neuropathy and poikiloderma skos:exactMatch MONDO:0008442 semapv:UnspecifiedMatching +OMIM:182820 spastic paraplegia with precocious puberty skos:exactMatch MONDO:0008443 semapv:UnspecifiedMatching +OMIM:182830 spastic paraplegia, optic atrophy, and dementia skos:exactMatch MONDO:0008444 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch UMLS:C0520739 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch UMLS:C1420385 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch UMLS:C1851741 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch UMLS:C4016379 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310960 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310961 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:11272 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:SPTA1 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch ncbigene:6708 semapv:UnspecifiedMatching +OMIM:182870 SPTB skos:exactMatch hgnc.symbol:11274 semapv:UnspecifiedMatching +OMIM:182870 SPTB skos:exactMatch hgnc.symbol:SPTB semapv:UnspecifiedMatching +OMIM:182870 SPTB skos:exactMatch ncbigene:6710 semapv:UnspecifiedMatching +OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease skos:exactMatch MONDO:0008445 semapv:UnspecifiedMatching +OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:8113 semapv:UnspecifiedMatching +OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:ODF1 semapv:UnspecifiedMatching +OMIM:182878 ODF1 skos:exactMatch ncbigene:4956 semapv:UnspecifiedMatching +OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:9447 semapv:UnspecifiedMatching +OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:PRM1 semapv:UnspecifiedMatching +OMIM:182880 PRM1 skos:exactMatch ncbigene:5619 semapv:UnspecifiedMatching +OMIM:182882 sperm protamine p4 skos:exactMatch MONDO:0008446 semapv:UnspecifiedMatching +OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:13188 semapv:UnspecifiedMatching +OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:ZP2 semapv:UnspecifiedMatching +OMIM:182888 ZP2 skos:exactMatch ncbigene:7783 semapv:UnspecifiedMatching +OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:13189 semapv:UnspecifiedMatching +OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:ZP3 semapv:UnspecifiedMatching +OMIM:182889 ZP3 skos:exactMatch ncbigene:7784 semapv:UnspecifiedMatching +OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:9448 semapv:UnspecifiedMatching +OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:PRM2 semapv:UnspecifiedMatching +OMIM:182890 PRM2 skos:exactMatch ncbigene:5620 semapv:UnspecifiedMatching +OMIM:182891 SRM skos:exactMatch hgnc.symbol:11296 semapv:UnspecifiedMatching +OMIM:182891 SRM skos:exactMatch hgnc.symbol:SRM semapv:UnspecifiedMatching +OMIM:182891 SRM skos:exactMatch ncbigene:6723 semapv:UnspecifiedMatching +OMIM:182900 spherocytosis, iia 1 skos:exactMatch MONDO:0008447 semapv:UnspecifiedMatching +OMIM:182920 skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching +OMIM:182920 skos:exactMatch UMLS:C1866785 semapv:UnspecifiedMatching +OMIM:182940 neural tube defects, susceptibility to skos:exactMatch MONDO:0020705 semapv:UnspecifiedMatching +OMIM:182950 spinal arachnoiditis skos:exactMatch MONDO:0008450 semapv:UnspecifiedMatching +OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch MONDO:0008451 semapv:UnspecifiedMatching +OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 semapv:UnspecifiedMatching +OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch UMLS:C1866784 semapv:UnspecifiedMatching +OMIM:182970 spinal muscular atrophy, facioscapulohumeral iia skos:exactMatch MONDO:0008452 semapv:UnspecifiedMatching +OMIM:182980 spinal muscular atrophy, late-onset, finkel iia skos:exactMatch MONDO:0008453 semapv:UnspecifiedMatching +OMIM:182990 spinal intradural arachnoid cysts skos:exactMatch MONDO:0008454 semapv:UnspecifiedMatching +OMIM:183020 spinal muscular atrophy, segmental skos:exactMatch MONDO:0008455 semapv:UnspecifiedMatching +OMIM:183050 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch MONDO:0008456 semapv:UnspecifiedMatching +OMIM:183086 spinocerebellar ataxia 6 skos:exactMatch MONDO:0008457 semapv:UnspecifiedMatching +OMIM:183090 spinocerebellar ataxia 2 skos:exactMatch MONDO:0008458 semapv:UnspecifiedMatching +OMIM:183100 spinocerebellar atrophy with pupillary paralysis skos:exactMatch MONDO:0008459 semapv:UnspecifiedMatching +OMIM:183300 splenogonadal fusion with limb defects and micrognathia skos:exactMatch MONDO:0008460 semapv:UnspecifiedMatching +OMIM:183350 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells skos:exactMatch MONDO:0008461 semapv:UnspecifiedMatching +OMIM:183400 split lower 51p skos:exactMatch MONDO:0008462 semapv:UnspecifiedMatching +OMIM:183500 split-hand and split-foot with hypodontia skos:exactMatch MONDO:0008463 semapv:UnspecifiedMatching +OMIM:183600 split-hand/foot malformation 1 skos:exactMatch MONDO:0008464 semapv:UnspecifiedMatching +OMIM:183600 split-hand/foot malformation 1 skos:exactMatch Orphanet:2440 semapv:UnspecifiedMatching +OMIM:183600 split-hand/foot malformation 1 skos:exactMatch UMLS:C2931019 semapv:UnspecifiedMatching +OMIM:183700 split-foot deformity with mandibulofacial dysostosis skos:exactMatch MONDO:0008465 semapv:UnspecifiedMatching +OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts skos:exactMatch MONDO:0008466 semapv:UnspecifiedMatching +OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects skos:exactMatch MONDO:0008467 semapv:UnspecifiedMatching +OMIM:183840 spondyloarthropathy, susceptibility to, 2 skos:exactMatch MONDO:0008468 semapv:UnspecifiedMatching +OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis skos:exactMatch MONDO:0008469 semapv:UnspecifiedMatching +OMIM:183850 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch MONDO:0008470 semapv:UnspecifiedMatching +OMIM:183900 spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 semapv:UnspecifiedMatching +OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness skos:exactMatch MONDO:0008472 semapv:UnspecifiedMatching +OMIM:184095 spondyloepiphyseal dysplasia, maroteaux iia skos:exactMatch MONDO:0008473 semapv:UnspecifiedMatching +OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch MONDO:0008474 semapv:UnspecifiedMatching +OMIM:184200 spondylolisthesis skos:exactMatch MONDO:0008475 semapv:UnspecifiedMatching +OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia skos:exactMatch MONDO:0008476 semapv:UnspecifiedMatching +OMIM:184252 spondylometaphyseal dysplasia, kozlowski iia skos:exactMatch MONDO:0008477 semapv:UnspecifiedMatching +OMIM:184253 spondylometaphyseal dysplasia, algerian iia skos:exactMatch MONDO:0008478 semapv:UnspecifiedMatching +OMIM:184255 spondylometaphyseal dysplasia, corner fracture iia skos:exactMatch MONDO:0008479 semapv:UnspecifiedMatching +OMIM:184260 odontochondrodysplasia 1 skos:exactMatch MONDO:0100325 semapv:UnspecifiedMatching +OMIM:184300 spondylosis, cervical skos:exactMatch MONDO:0008481 semapv:UnspecifiedMatching +OMIM:184400 sprengel deformity skos:exactMatch MONDO:0008482 semapv:UnspecifiedMatching +OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:3629 semapv:UnspecifiedMatching +OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:FDFT1 semapv:UnspecifiedMatching +OMIM:184420 FDFT1 skos:exactMatch ncbigene:2222 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch UMLS:C1420322 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch UMLS:C1859773 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch UMLS:C1859774 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:11195 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:SOX2 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch ncbigene:6657 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch UMLS:C1420327 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch UMLS:C4760583 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:11200 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:SOX4 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch ncbigene:6659 semapv:UnspecifiedMatching +OMIM:184450 stuttering, familial persistent, 1 skos:exactMatch MONDO:0008483 semapv:UnspecifiedMatching +OMIM:184460 stapes ankylosis with broad thumbs and toes skos:exactMatch MONDO:0008484 semapv:UnspecifiedMatching +OMIM:184470 STATH skos:exactMatch hgnc.symbol:11369 semapv:UnspecifiedMatching +OMIM:184470 STATH skos:exactMatch hgnc.symbol:STATH semapv:UnspecifiedMatching +OMIM:184470 STATH skos:exactMatch ncbigene:6779 semapv:UnspecifiedMatching +OMIM:184500 steatocystoma multiplex skos:exactMatch MONDO:0008485 semapv:UnspecifiedMatching +OMIM:184510 steatocystoma multiplex with natal teeth skos:exactMatch MONDO:0008486 semapv:UnspecifiedMatching +OMIM:184600 CSTA skos:exactMatch hgnc.symbol:2481 semapv:UnspecifiedMatching +OMIM:184600 CSTA skos:exactMatch hgnc.symbol:CSTA semapv:UnspecifiedMatching +OMIM:184600 CSTA skos:exactMatch ncbigene:1475 semapv:UnspecifiedMatching +OMIM:184700 polycystic ovary syndrome 1 skos:exactMatch MONDO:0008487 semapv:UnspecifiedMatching +OMIM:184705 steinfeld syndrome skos:exactMatch MONDO:0008488 semapv:UnspecifiedMatching +OMIM:184745 KITLG skos:exactMatch hgnc.symbol:6343 semapv:UnspecifiedMatching +OMIM:184745 KITLG skos:exactMatch hgnc.symbol:KITLG semapv:UnspecifiedMatching +OMIM:184745 KITLG skos:exactMatch ncbigene:4254 semapv:UnspecifiedMatching +OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:11284 semapv:UnspecifiedMatching +OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:SRD5A1 semapv:UnspecifiedMatching +OMIM:184753 SRD5A1 skos:exactMatch ncbigene:6715 semapv:UnspecifiedMatching +OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:10606 semapv:UnspecifiedMatching +OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:SCP2 semapv:UnspecifiedMatching +OMIM:184755 SCP2 skos:exactMatch ncbigene:6342 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch UMLS:C1420398 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:11289 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:SREBF1 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch ncbigene:6720 semapv:UnspecifiedMatching +OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:7983 semapv:UnspecifiedMatching +OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:NR5A1 semapv:UnspecifiedMatching +OMIM:184757 NR5A1 skos:exactMatch ncbigene:2516 semapv:UnspecifiedMatching +OMIM:184800 sternum, premature obliteration of sutures of skos:exactMatch MONDO:0008489 semapv:UnspecifiedMatching +OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch MONDO:0008490 semapv:UnspecifiedMatching +OMIM:184850 stiff-person syndrome skos:exactMatch MONDO:0008491 semapv:UnspecifiedMatching +OMIM:184900 stiff skin syndrome skos:exactMatch MONDO:0008492 semapv:UnspecifiedMatching +OMIM:185000 overhydrated hereditary stomatocytosis skos:exactMatch MONDO:0008493 semapv:UnspecifiedMatching +OMIM:185020 cryohydrocytosis skos:exactMatch MONDO:0008494 semapv:UnspecifiedMatching +OMIM:185050 storage pool platelet disease skos:exactMatch MONDO:0008495 semapv:UnspecifiedMatching +OMIM:185069 storm syndrome skos:exactMatch MONDO:0008496 semapv:UnspecifiedMatching +OMIM:185070 stormorken syndrome skos:exactMatch MONDO:0008497 semapv:UnspecifiedMatching +OMIM:185100 strabismus, susceptibility to skos:exactMatch MONDO:0008498 semapv:UnspecifiedMatching +OMIM:185120 stratton-parker syndrome skos:exactMatch MONDO:0008499 semapv:UnspecifiedMatching +OMIM:185200 striae distensae, familial skos:exactMatch MONDO:0008500 semapv:UnspecifiedMatching +OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:7173 semapv:UnspecifiedMatching +OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:MMP3 semapv:UnspecifiedMatching +OMIM:185250 MMP3 skos:exactMatch ncbigene:4314 semapv:UnspecifiedMatching +OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:7156 semapv:UnspecifiedMatching +OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:MMP10 semapv:UnspecifiedMatching +OMIM:185260 MMP10 skos:exactMatch ncbigene:4319 semapv:UnspecifiedMatching +OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:7157 semapv:UnspecifiedMatching +OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:MMP11 semapv:UnspecifiedMatching +OMIM:185261 MMP11 skos:exactMatch ncbigene:4320 semapv:UnspecifiedMatching +OMIM:185300 sturge-weber syndrome skos:exactMatch MONDO:0008501 semapv:UnspecifiedMatching +OMIM:185300 sturge-weber syndrome skos:exactMatch Orphanet:3205 semapv:UnspecifiedMatching +OMIM:185300 sturge-weber syndrome skos:exactMatch UMLS:C0038505 semapv:UnspecifiedMatching +OMIM:185430 CLU skos:exactMatch hgnc.symbol:2095 semapv:UnspecifiedMatching +OMIM:185430 CLU skos:exactMatch hgnc.symbol:CLU semapv:UnspecifiedMatching +OMIM:185430 CLU skos:exactMatch ncbigene:1191 semapv:UnspecifiedMatching +OMIM:185440 ST2 skos:exactMatch ncbigene:6761 semapv:UnspecifiedMatching +OMIM:185460 sulfhemoglobinemia, congenital skos:exactMatch MONDO:0008502 semapv:UnspecifiedMatching +OMIM:185470 SDHB skos:exactMatch hgnc.symbol:10681 semapv:UnspecifiedMatching +OMIM:185470 SDHB skos:exactMatch hgnc.symbol:SDHB semapv:UnspecifiedMatching +OMIM:185470 SDHB skos:exactMatch ncbigene:6390 semapv:UnspecifiedMatching +OMIM:185480 suprabulbar paresis, congenital skos:exactMatch MONDO:0008503 semapv:UnspecifiedMatching +OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:11181 semapv:UnspecifiedMatching +OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:SOD3 semapv:UnspecifiedMatching +OMIM:185490 SOD3 skos:exactMatch ncbigene:6649 semapv:UnspecifiedMatching +OMIM:185500 supravalvular aortic stenosis skos:exactMatch MONDO:0008504 semapv:UnspecifiedMatching +OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:11529 semapv:UnspecifiedMatching +OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:EPCAM semapv:UnspecifiedMatching +OMIM:185535 EPCAM skos:exactMatch ncbigene:4072 semapv:UnspecifiedMatching +OMIM:185540 surface antigen, glycoprotein 75 skos:exactMatch MONDO:0008505 semapv:UnspecifiedMatching +OMIM:185600 symphalangism of toes skos:exactMatch MONDO:0008506 semapv:UnspecifiedMatching +OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:11509 semapv:UnspecifiedMatching +OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:SYT1 semapv:UnspecifiedMatching +OMIM:185605 SYT1 skos:exactMatch ncbigene:6857 semapv:UnspecifiedMatching +OMIM:185610 surface polypeptides, anonymous skos:exactMatch MONDO:0008507 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch UMLS:C1420527 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch UMLS:C4225246 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:11474 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:SURF1 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch ncbigene:6834 semapv:UnspecifiedMatching +OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:11475 semapv:UnspecifiedMatching +OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:SURF2 semapv:UnspecifiedMatching +OMIM:185630 SURF2 skos:exactMatch ncbigene:6835 semapv:UnspecifiedMatching +OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:10364 semapv:UnspecifiedMatching +OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:RPL7A semapv:UnspecifiedMatching +OMIM:185640 RPL7A skos:exactMatch ncbigene:6130 semapv:UnspecifiedMatching +OMIM:185641 MED22 skos:exactMatch hgnc.symbol:11477 semapv:UnspecifiedMatching +OMIM:185641 MED22 skos:exactMatch hgnc.symbol:MED22 semapv:UnspecifiedMatching +OMIM:185641 MED22 skos:exactMatch ncbigene:6837 semapv:UnspecifiedMatching +OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:11478 semapv:UnspecifiedMatching +OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:SURF6 semapv:UnspecifiedMatching +OMIM:185642 SURF6 skos:exactMatch ncbigene:6838 semapv:UnspecifiedMatching +OMIM:185650 symphalangism, c. s. lewis iia skos:exactMatch MONDO:0008508 semapv:UnspecifiedMatching +OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:11476 semapv:UnspecifiedMatching +OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:SURF4 semapv:UnspecifiedMatching +OMIM:185660 SURF4 skos:exactMatch ncbigene:6836 semapv:UnspecifiedMatching +OMIM:185700 symphalangism, distal skos:exactMatch MONDO:0008509 semapv:UnspecifiedMatching +OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch MONDO:0008510 semapv:UnspecifiedMatching +OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 semapv:UnspecifiedMatching +OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching +OMIM:185800 symphalangism, proximal, 1a skos:exactMatch MONDO:0020733 semapv:UnspecifiedMatching +OMIM:185860 SV2A skos:exactMatch hgnc.symbol:20566 semapv:UnspecifiedMatching +OMIM:185860 SV2A skos:exactMatch hgnc.symbol:SV2A semapv:UnspecifiedMatching +OMIM:185860 SV2A skos:exactMatch ncbigene:9900 semapv:UnspecifiedMatching +OMIM:185861 SV2B skos:exactMatch hgnc.symbol:16874 semapv:UnspecifiedMatching +OMIM:185861 SV2B skos:exactMatch hgnc.symbol:SV2B semapv:UnspecifiedMatching +OMIM:185861 SV2B skos:exactMatch ncbigene:9899 semapv:UnspecifiedMatching +OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:12642 semapv:UnspecifiedMatching +OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:VAMP1 semapv:UnspecifiedMatching +OMIM:185880 VAMP1 skos:exactMatch ncbigene:6843 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch UMLS:C1421419 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231518 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231519 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:12643 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:VAMP2 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch ncbigene:6844 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch MONDO:0008512 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:1527 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch UMLS:C1861380 semapv:UnspecifiedMatching +OMIM:186000 synpolydactyly 1 skos:exactMatch MONDO:0008513 semapv:UnspecifiedMatching +OMIM:186100 syndactyly, iia 3 skos:exactMatch MONDO:0008514 semapv:UnspecifiedMatching +OMIM:186100 syndactyly, iia 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching +OMIM:186100 syndactyly, iia 3 skos:exactMatch UMLS:C1861366 semapv:UnspecifiedMatching +OMIM:186200 syndactyly, iia 4 skos:exactMatch MONDO:0008515 semapv:UnspecifiedMatching +OMIM:186300 syndactyly, iia 5 skos:exactMatch MONDO:0008516 semapv:UnspecifiedMatching +OMIM:186350 syndactyly-polydactyly-earlobe syndrome skos:exactMatch MONDO:0008517 semapv:UnspecifiedMatching +OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:10658 semapv:UnspecifiedMatching +OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:SDC1 semapv:UnspecifiedMatching +OMIM:186355 SDC1 skos:exactMatch ncbigene:6382 semapv:UnspecifiedMatching +OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:10660 semapv:UnspecifiedMatching +OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:SDC3 semapv:UnspecifiedMatching +OMIM:186357 SDC3 skos:exactMatch ncbigene:9672 semapv:UnspecifiedMatching +OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:545 semapv:UnspecifiedMatching +OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:ANXA7 semapv:UnspecifiedMatching +OMIM:186360 ANXA7 skos:exactMatch ncbigene:310 semapv:UnspecifiedMatching +OMIM:186400 synostoses, tarsal, carpal, and digital skos:exactMatch MONDO:0008518 semapv:UnspecifiedMatching +OMIM:186500 multiple synostoses syndrome 1 skos:exactMatch MONDO:0008519 semapv:UnspecifiedMatching +OMIM:186550 liebenberg syndrome skos:exactMatch MONDO:0008520 semapv:UnspecifiedMatching +OMIM:186570 tarsal-carpal coalition syndrome skos:exactMatch MONDO:0008521 semapv:UnspecifiedMatching +OMIM:186575 synovial chondromatosis, familial, with dwarfism skos:exactMatch MONDO:0008522 semapv:UnspecifiedMatching +OMIM:186580 blau syndrome skos:exactMatch MONDO:0008523 semapv:UnspecifiedMatching +OMIM:186590 STX1A skos:exactMatch hgnc.symbol:11433 semapv:UnspecifiedMatching +OMIM:186590 STX1A skos:exactMatch hgnc.symbol:STX1A semapv:UnspecifiedMatching +OMIM:186590 STX1A skos:exactMatch ncbigene:6804 semapv:UnspecifiedMatching +OMIM:186591 STX4 skos:exactMatch hgnc.symbol:11439 semapv:UnspecifiedMatching +OMIM:186591 STX4 skos:exactMatch hgnc.symbol:STX4 semapv:UnspecifiedMatching +OMIM:186591 STX4 skos:exactMatch ncbigene:6810 semapv:UnspecifiedMatching +OMIM:186600 syringomas, multiple skos:exactMatch MONDO:0008524 semapv:UnspecifiedMatching +OMIM:186700 syringomyelia, noncommunicating isolated skos:exactMatch MONDO:0008525 semapv:UnspecifiedMatching +OMIM:186711 CD27 skos:exactMatch hgnc.symbol:11922 semapv:UnspecifiedMatching +OMIM:186711 CD27 skos:exactMatch hgnc.symbol:CD27 semapv:UnspecifiedMatching +OMIM:186711 CD27 skos:exactMatch ncbigene:939 semapv:UnspecifiedMatching +OMIM:186720 CD6 skos:exactMatch hgnc.symbol:1691 semapv:UnspecifiedMatching +OMIM:186720 CD6 skos:exactMatch hgnc.symbol:CD6 semapv:UnspecifiedMatching +OMIM:186720 CD6 skos:exactMatch ncbigene:923 semapv:UnspecifiedMatching +OMIM:186730 CD8B skos:exactMatch hgnc.symbol:1707 semapv:UnspecifiedMatching +OMIM:186730 CD8B skos:exactMatch hgnc.symbol:CD8B semapv:UnspecifiedMatching +OMIM:186730 CD8B skos:exactMatch ncbigene:926 semapv:UnspecifiedMatching +OMIM:186740 CD3G skos:exactMatch hgnc.symbol:1675 semapv:UnspecifiedMatching +OMIM:186740 CD3G skos:exactMatch hgnc.symbol:CD3G semapv:UnspecifiedMatching +OMIM:186740 CD3G skos:exactMatch ncbigene:917 semapv:UnspecifiedMatching +OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:11845 semapv:UnspecifiedMatching +OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:TLN1 semapv:UnspecifiedMatching +OMIM:186745 TLN1 skos:exactMatch ncbigene:7094 semapv:UnspecifiedMatching +OMIM:186750 talonavicular coalition skos:exactMatch MONDO:0008526 semapv:UnspecifiedMatching +OMIM:186760 CD28 skos:exactMatch hgnc.symbol:1653 semapv:UnspecifiedMatching +OMIM:186760 CD28 skos:exactMatch hgnc.symbol:CD28 semapv:UnspecifiedMatching +OMIM:186760 CD28 skos:exactMatch ncbigene:940 semapv:UnspecifiedMatching +OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:5056 semapv:UnspecifiedMatching +OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:TLX1 semapv:UnspecifiedMatching +OMIM:186770 TLX1 skos:exactMatch ncbigene:3195 semapv:UnspecifiedMatching +OMIM:186780 CD247 skos:exactMatch hgnc.symbol:1677 semapv:UnspecifiedMatching +OMIM:186780 CD247 skos:exactMatch hgnc.symbol:CD247 semapv:UnspecifiedMatching +OMIM:186780 CD247 skos:exactMatch ncbigene:919 semapv:UnspecifiedMatching +OMIM:186790 CD3D skos:exactMatch hgnc.symbol:1673 semapv:UnspecifiedMatching +OMIM:186790 CD3D skos:exactMatch hgnc.symbol:CD3D semapv:UnspecifiedMatching +OMIM:186790 CD3D skos:exactMatch ncbigene:915 semapv:UnspecifiedMatching +OMIM:186810 TRDC skos:exactMatch hgnc.symbol:12253 semapv:UnspecifiedMatching +OMIM:186810 TRDC skos:exactMatch hgnc.symbol:TRDC semapv:UnspecifiedMatching +OMIM:186810 TRDC skos:exactMatch ncbigene:28526 semapv:UnspecifiedMatching +OMIM:186820 CD7 skos:exactMatch hgnc.symbol:1695 semapv:UnspecifiedMatching +OMIM:186820 CD7 skos:exactMatch hgnc.symbol:CD7 semapv:UnspecifiedMatching +OMIM:186820 CD7 skos:exactMatch ncbigene:924 semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch UMLS:C1332711 semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch UMLS:C3810127 semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch UMLS:C3810128 semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch hgnc.symbol:1674 semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch hgnc.symbol:CD3E semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch ncbigene:916 semapv:UnspecifiedMatching +OMIM:186845 CD81 skos:exactMatch hgnc.symbol:1701 semapv:UnspecifiedMatching +OMIM:186845 CD81 skos:exactMatch hgnc.symbol:CD81 semapv:UnspecifiedMatching +OMIM:186845 CD81 skos:exactMatch ncbigene:975 semapv:UnspecifiedMatching +OMIM:186850 tarsal coalition skos:exactMatch MONDO:0008527 semapv:UnspecifiedMatching +OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:9549 semapv:UnspecifiedMatching +OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:PSMC3 semapv:UnspecifiedMatching +OMIM:186852 PSMC3 skos:exactMatch ncbigene:5702 semapv:UnspecifiedMatching +OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:11052 semapv:UnspecifiedMatching +OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:SLC6A6 semapv:UnspecifiedMatching +OMIM:186854 SLC6A6 skos:exactMatch ncbigene:6533 semapv:UnspecifiedMatching +OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:11557 semapv:UnspecifiedMatching +OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:TAL2 semapv:UnspecifiedMatching +OMIM:186855 TAL2 skos:exactMatch ncbigene:6887 semapv:UnspecifiedMatching +OMIM:186860 TCL4 skos:exactMatch ncbigene:6946 semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch UMLS:C1420886 semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch UMLS:C3809332 semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch hgnc.symbol:12029 semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch hgnc.symbol:TRAC semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch ncbigene:28755 semapv:UnspecifiedMatching +OMIM:186890 tear protein, anodal skos:exactMatch MONDO:0008528 semapv:UnspecifiedMatching +OMIM:186910 CD8A skos:exactMatch hgnc.symbol:1706 semapv:UnspecifiedMatching +OMIM:186910 CD8A skos:exactMatch hgnc.symbol:CD8A semapv:UnspecifiedMatching +OMIM:186910 CD8A skos:exactMatch ncbigene:925 semapv:UnspecifiedMatching +OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:6641 semapv:UnspecifiedMatching +OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:LMO1 semapv:UnspecifiedMatching +OMIM:186921 LMO1 skos:exactMatch ncbigene:4004 semapv:UnspecifiedMatching +OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:12156 semapv:UnspecifiedMatching +OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:TRBC1 semapv:UnspecifiedMatching +OMIM:186930 TRBC1 skos:exactMatch ncbigene:28639 semapv:UnspecifiedMatching +OMIM:186940 CD4 skos:exactMatch hgnc.symbol:1678 semapv:UnspecifiedMatching +OMIM:186940 CD4 skos:exactMatch hgnc.symbol:CD4 semapv:UnspecifiedMatching +OMIM:186940 CD4 skos:exactMatch ncbigene:920 semapv:UnspecifiedMatching +OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:3711 semapv:UnspecifiedMatching +OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:FKBP1A semapv:UnspecifiedMatching +OMIM:186945 FKBP1A skos:exactMatch ncbigene:2280 semapv:UnspecifiedMatching +OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:3718 semapv:UnspecifiedMatching +OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:FKBP2 semapv:UnspecifiedMatching +OMIM:186946 FKBP2 skos:exactMatch ncbigene:2286 semapv:UnspecifiedMatching +OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:3719 semapv:UnspecifiedMatching +OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:FKBP3 semapv:UnspecifiedMatching +OMIM:186947 FKBP3 skos:exactMatch ncbigene:2287 semapv:UnspecifiedMatching +OMIM:186950 t-cell subgroups, non-hla-linked skos:exactMatch MONDO:0008529 semapv:UnspecifiedMatching +OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:11648 semapv:UnspecifiedMatching +OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:TCL1A semapv:UnspecifiedMatching +OMIM:186960 TCL1A skos:exactMatch ncbigene:8115 semapv:UnspecifiedMatching +OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:12275 semapv:UnspecifiedMatching +OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:TRGC1 semapv:UnspecifiedMatching +OMIM:186970 TRGC1 skos:exactMatch ncbigene:6966 semapv:UnspecifiedMatching +OMIM:186973 ITK skos:exactMatch hgnc.symbol:6171 semapv:UnspecifiedMatching +OMIM:186973 ITK skos:exactMatch hgnc.symbol:ITK semapv:UnspecifiedMatching +OMIM:186973 ITK skos:exactMatch ncbigene:3702 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch UMLS:C1420661 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:11693 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:TCTE1 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch ncbigene:202500 semapv:UnspecifiedMatching +OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:11695 semapv:UnspecifiedMatching +OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:DYNLT2 semapv:UnspecifiedMatching +OMIM:186977 TCTE3 skos:exactMatch ncbigene:6991 semapv:UnspecifiedMatching +OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:11655 semapv:UnspecifiedMatching +OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:TCP1 semapv:UnspecifiedMatching +OMIM:186980 TCP1 skos:exactMatch ncbigene:6950 semapv:UnspecifiedMatching +OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:11658 semapv:UnspecifiedMatching +OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:TCP11 semapv:UnspecifiedMatching +OMIM:186982 TCP11 skos:exactMatch ncbigene:6954 semapv:UnspecifiedMatching +OMIM:186990 CD2 skos:exactMatch hgnc.symbol:1639 semapv:UnspecifiedMatching +OMIM:186990 CD2 skos:exactMatch hgnc.symbol:CD2 semapv:UnspecifiedMatching +OMIM:186990 CD2 skos:exactMatch ncbigene:914 semapv:UnspecifiedMatching +OMIM:187000 teeth, odd shapes of skos:exactMatch MONDO:0008530 semapv:UnspecifiedMatching +OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:10632 semapv:UnspecifiedMatching +OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:CCL5 semapv:UnspecifiedMatching +OMIM:187011 CCL5 skos:exactMatch ncbigene:6352 semapv:UnspecifiedMatching +OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:11656 semapv:UnspecifiedMatching +OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:TCP10L3 semapv:UnspecifiedMatching +OMIM:187020 TCP10 skos:exactMatch ncbigene:6953 semapv:UnspecifiedMatching +OMIM:187030 t-complex locus tcp10b skos:exactMatch MONDO:0008531 semapv:UnspecifiedMatching +OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:11556 semapv:UnspecifiedMatching +OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:TAL1 semapv:UnspecifiedMatching +OMIM:187040 TAL1 skos:exactMatch ncbigene:6886 semapv:UnspecifiedMatching +OMIM:187050 teeth present at birth skos:exactMatch MONDO:0008532 semapv:UnspecifiedMatching +OMIM:187100 teeth, supernumerary skos:exactMatch MONDO:0008533 semapv:UnspecifiedMatching +OMIM:187260 telangiectasia, hereditary benign skos:exactMatch MONDO:0008534 semapv:UnspecifiedMatching +OMIM:187270 TERT skos:exactMatch hgnc.symbol:11730 semapv:UnspecifiedMatching +OMIM:187270 TERT skos:exactMatch hgnc.symbol:TERT semapv:UnspecifiedMatching +OMIM:187270 TERT skos:exactMatch ncbigene:7015 semapv:UnspecifiedMatching +OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:1080 semapv:UnspecifiedMatching +OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:POLR3D semapv:UnspecifiedMatching +OMIM:187280 POLR3D skos:exactMatch ncbigene:661 semapv:UnspecifiedMatching +OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 skos:exactMatch MONDO:0008535 semapv:UnspecifiedMatching +OMIM:187340 temperature-sensitive lethal mutation skos:exactMatch MONDO:0008536 semapv:UnspecifiedMatching +OMIM:187350 telecanthus skos:exactMatch MONDO:0008537 semapv:UnspecifiedMatching +OMIM:187360 temporal arteritis skos:exactMatch MONDO:0008538 semapv:UnspecifiedMatching +OMIM:187370 arthrogryposis, distal, iia 10 skos:exactMatch MONDO:0016675 semapv:UnspecifiedMatching +OMIM:187380 TNC skos:exactMatch hgnc.symbol:5318 semapv:UnspecifiedMatching +OMIM:187380 TNC skos:exactMatch hgnc.symbol:TNC semapv:UnspecifiedMatching +OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching +OMIM:187390 tendons, extensor, of fingers, anomalous insertion of skos:exactMatch MONDO:0008540 semapv:UnspecifiedMatching +OMIM:187395 TDGF1 skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching +OMIM:187395 TDGF1 skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching +OMIM:187400 testicular torsion skos:exactMatch MONDO:0008541 semapv:UnspecifiedMatching +OMIM:187410 DNTT skos:exactMatch hgnc.symbol:2983 semapv:UnspecifiedMatching +OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching +OMIM:187410 DNTT skos:exactMatch ncbigene:1791 semapv:UnspecifiedMatching +OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:12024 semapv:UnspecifiedMatching +OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:CRISP2 semapv:UnspecifiedMatching +OMIM:187430 CRISP2 skos:exactMatch ncbigene:7180 semapv:UnspecifiedMatching +OMIM:187500 tetralogy of fallot skos:exactMatch MONDO:0008542 semapv:UnspecifiedMatching +OMIM:187501 tetralogy of fallot and glaucoma skos:exactMatch MONDO:0008543 semapv:UnspecifiedMatching +OMIM:187510 tetramelic monodactyly skos:exactMatch MONDO:0008544 semapv:UnspecifiedMatching +OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:11891 semapv:UnspecifiedMatching +OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:CLEC3B semapv:UnspecifiedMatching +OMIM:187520 CLEC3B skos:exactMatch ncbigene:7123 semapv:UnspecifiedMatching +OMIM:187550 thalassemia, beta+, silent allele skos:exactMatch MONDO:0008545 semapv:UnspecifiedMatching +OMIM:187600 thanatophoric dysplasia, iia 1 skos:exactMatch MONDO:0008546 semapv:UnspecifiedMatching +OMIM:187601 thanatophoric dysplasia, iia 2 skos:exactMatch MONDO:0008547 semapv:UnspecifiedMatching +OMIM:187650 theophylline biotransformation skos:exactMatch MONDO:0008548 semapv:UnspecifiedMatching +OMIM:187680 TPMT skos:exactMatch hgnc.symbol:12014 semapv:UnspecifiedMatching +OMIM:187680 TPMT skos:exactMatch hgnc.symbol:TPMT semapv:UnspecifiedMatching +OMIM:187680 TPMT skos:exactMatch ncbigene:7172 semapv:UnspecifiedMatching +OMIM:187700 TXN skos:exactMatch hgnc.symbol:12435 semapv:UnspecifiedMatching +OMIM:187700 TXN skos:exactMatch hgnc.symbol:TXN semapv:UnspecifiedMatching +OMIM:187700 TXN skos:exactMatch ncbigene:7295 semapv:UnspecifiedMatching +OMIM:187750 thoracic dysostosis, isolated skos:exactMatch MONDO:0008549 semapv:UnspecifiedMatching +OMIM:187760 thoracolaryngopelvic dysplasia skos:exactMatch MONDO:0008551 semapv:UnspecifiedMatching +OMIM:187770 thoracopelvic dysostosis skos:exactMatch MONDO:0008551 semapv:UnspecifiedMatching +OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:11572 semapv:UnspecifiedMatching +OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:TARS1 semapv:UnspecifiedMatching +OMIM:187790 TARS1 skos:exactMatch ncbigene:6897 semapv:UnspecifiedMatching +OMIM:187800 bleeding disorder, platelet-type, 16 skos:exactMatch MONDO:0008552 semapv:UnspecifiedMatching +OMIM:187900 bleeding disorder, platelet-type, 17 skos:exactMatch MONDO:0008553 semapv:UnspecifiedMatching +OMIM:187930 F2R skos:exactMatch hgnc.symbol:3537 semapv:UnspecifiedMatching +OMIM:187930 F2R skos:exactMatch hgnc.symbol:F2R semapv:UnspecifiedMatching +OMIM:187930 F2R skos:exactMatch ncbigene:2149 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch MONDO:0008554 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch UMLS:C3277671 semapv:UnspecifiedMatching +OMIM:188000 thrombocytopenia 2 skos:exactMatch MONDO:0008555 semapv:UnspecifiedMatching +OMIM:188020 thrombocytopenia, cyclic skos:exactMatch MONDO:0008556 semapv:UnspecifiedMatching +OMIM:188025 thrombocytopenia, paris-trousseau iia skos:exactMatch MONDO:0008557 semapv:UnspecifiedMatching +OMIM:188030 immune thrombocytopenia skos:exactMatch MONDO:0008558 semapv:UnspecifiedMatching +OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:9241 semapv:UnspecifiedMatching +OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:PPBPP1 semapv:UnspecifiedMatching +OMIM:188035 PPBPL1 skos:exactMatch ncbigene:728045 semapv:UnspecifiedMatching +OMIM:188040 THBD skos:exactMatch hgnc.symbol:11784 semapv:UnspecifiedMatching +OMIM:188040 THBD skos:exactMatch hgnc.symbol:THBD semapv:UnspecifiedMatching +OMIM:188040 THBD skos:exactMatch ncbigene:7056 semapv:UnspecifiedMatching +OMIM:188050 thrombophilia due to thrombin defect skos:exactMatch MONDO:0008559 semapv:UnspecifiedMatching +OMIM:188055 thrombophilia due to activated protein c resistance skos:exactMatch MONDO:0008560 semapv:UnspecifiedMatching +OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:11785 semapv:UnspecifiedMatching +OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:THBS1 semapv:UnspecifiedMatching +OMIM:188060 THBS1 skos:exactMatch ncbigene:7057 semapv:UnspecifiedMatching +OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:11786 semapv:UnspecifiedMatching +OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:THBS2 semapv:UnspecifiedMatching +OMIM:188061 THBS2 skos:exactMatch ncbigene:7058 semapv:UnspecifiedMatching +OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:11787 semapv:UnspecifiedMatching +OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:THBS3 semapv:UnspecifiedMatching +OMIM:188062 THBS3 skos:exactMatch ncbigene:7059 semapv:UnspecifiedMatching +OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:11608 semapv:UnspecifiedMatching +OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:TBXA2R semapv:UnspecifiedMatching +OMIM:188070 TBXA2R skos:exactMatch ncbigene:6915 semapv:UnspecifiedMatching +OMIM:188100 thumb deformity skos:exactMatch MONDO:0008561 semapv:UnspecifiedMatching +OMIM:188150 thumb deformity and alopecia skos:exactMatch MONDO:0008562 semapv:UnspecifiedMatching +OMIM:188201 thumbs, stiff, with brachydactyly iia a1 and developmental delay skos:exactMatch MONDO:0008563 semapv:UnspecifiedMatching +OMIM:188230 THY1 skos:exactMatch hgnc.symbol:11801 semapv:UnspecifiedMatching +OMIM:188230 THY1 skos:exactMatch hgnc.symbol:THY1 semapv:UnspecifiedMatching +OMIM:188230 THY1 skos:exactMatch ncbigene:7070 semapv:UnspecifiedMatching +OMIM:188250 TK2 skos:exactMatch hgnc.symbol:11831 semapv:UnspecifiedMatching +OMIM:188250 TK2 skos:exactMatch hgnc.symbol:TK2 semapv:UnspecifiedMatching +OMIM:188250 TK2 skos:exactMatch ncbigene:7084 semapv:UnspecifiedMatching +OMIM:188300 TK1 skos:exactMatch hgnc.symbol:11830 semapv:UnspecifiedMatching +OMIM:188300 TK1 skos:exactMatch hgnc.symbol:TK1 semapv:UnspecifiedMatching +OMIM:188300 TK1 skos:exactMatch ncbigene:7083 semapv:UnspecifiedMatching +OMIM:188340 CD1C skos:exactMatch hgnc.symbol:1636 semapv:UnspecifiedMatching +OMIM:188340 CD1C skos:exactMatch hgnc.symbol:CD1C semapv:UnspecifiedMatching +OMIM:188340 CD1C skos:exactMatch ncbigene:911 semapv:UnspecifiedMatching +OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:3061 semapv:UnspecifiedMatching +OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:DTYMK semapv:UnspecifiedMatching +OMIM:188345 DTYMK skos:exactMatch ncbigene:1841 semapv:UnspecifiedMatching +OMIM:188350 TYMS skos:exactMatch hgnc.symbol:12441 semapv:UnspecifiedMatching +OMIM:188350 TYMS skos:exactMatch hgnc.symbol:TYMS semapv:UnspecifiedMatching +OMIM:188350 TYMS skos:exactMatch ncbigene:7298 semapv:UnspecifiedMatching +OMIM:188360 CD1B skos:exactMatch hgnc.symbol:1635 semapv:UnspecifiedMatching +OMIM:188360 CD1B skos:exactMatch hgnc.symbol:CD1B semapv:UnspecifiedMatching +OMIM:188360 CD1B skos:exactMatch ncbigene:910 semapv:UnspecifiedMatching +OMIM:188370 CD1A skos:exactMatch hgnc.symbol:1634 semapv:UnspecifiedMatching +OMIM:188370 CD1A skos:exactMatch hgnc.symbol:CD1A semapv:UnspecifiedMatching +OMIM:188370 CD1A skos:exactMatch ncbigene:909 semapv:UnspecifiedMatching +OMIM:188380 TMPO skos:exactMatch hgnc.symbol:11875 semapv:UnspecifiedMatching +OMIM:188380 TMPO skos:exactMatch hgnc.symbol:TMPO semapv:UnspecifiedMatching +OMIM:188380 TMPO skos:exactMatch ncbigene:7112 semapv:UnspecifiedMatching +OMIM:188390 PTMA skos:exactMatch hgnc.symbol:9623 semapv:UnspecifiedMatching +OMIM:188390 PTMA skos:exactMatch hgnc.symbol:PTMA semapv:UnspecifiedMatching +OMIM:188390 PTMA skos:exactMatch ncbigene:5757 semapv:UnspecifiedMatching +OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:11879 semapv:UnspecifiedMatching +OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:TMSB10 semapv:UnspecifiedMatching +OMIM:188399 TMSB10 skos:exactMatch ncbigene:9168 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch MONDO:0008564 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C1414025 semapv:UnspecifiedMatching +OMIM:188410 CD1D skos:exactMatch hgnc.symbol:1637 semapv:UnspecifiedMatching +OMIM:188410 CD1D skos:exactMatch hgnc.symbol:CD1D semapv:UnspecifiedMatching +OMIM:188410 CD1D skos:exactMatch ncbigene:912 semapv:UnspecifiedMatching +OMIM:188411 CD1E skos:exactMatch hgnc.symbol:1638 semapv:UnspecifiedMatching +OMIM:188411 CD1E skos:exactMatch hgnc.symbol:CD1E semapv:UnspecifiedMatching +OMIM:188411 CD1E skos:exactMatch ncbigene:913 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch UMLS:C1420709 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch UMLS:C1842444 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch hgnc.symbol:11764 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch hgnc.symbol:TG semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch ncbigene:7038 semapv:UnspecifiedMatching +OMIM:188455 thyroglossal duct cyst, familial skos:exactMatch MONDO:0008565 semapv:UnspecifiedMatching +OMIM:188470 thyroid cancer, nonmedullary, 2 skos:exactMatch MONDO:0008566 semapv:UnspecifiedMatching +OMIM:188540 TSHB skos:exactMatch hgnc.symbol:12372 semapv:UnspecifiedMatching +OMIM:188540 TSHB skos:exactMatch hgnc.symbol:TSHB semapv:UnspecifiedMatching +OMIM:188540 TSHB skos:exactMatch ncbigene:7252 semapv:UnspecifiedMatching +OMIM:188545 TRHR skos:exactMatch hgnc.symbol:12299 semapv:UnspecifiedMatching +OMIM:188545 TRHR skos:exactMatch hgnc.symbol:TRHR semapv:UnspecifiedMatching +OMIM:188545 TRHR skos:exactMatch ncbigene:7201 semapv:UnspecifiedMatching +OMIM:188550 thyroid cancer, nonmedullary, 1 skos:exactMatch MONDO:0008567 semapv:UnspecifiedMatching +OMIM:188560 thyroid hormone plasma membrane transport defect skos:exactMatch MONDO:0008568 semapv:UnspecifiedMatching +OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch MONDO:0008569 semapv:UnspecifiedMatching +OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch MONDO:0008570 semapv:UnspecifiedMatching +OMIM:188595 TEF skos:exactMatch hgnc.symbol:11722 semapv:UnspecifiedMatching +OMIM:188595 TEF skos:exactMatch hgnc.symbol:TEF semapv:UnspecifiedMatching +OMIM:188595 TEF skos:exactMatch ncbigene:7008 semapv:UnspecifiedMatching +OMIM:188700 blount disease, infantile skos:exactMatch MONDO:0008571 semapv:UnspecifiedMatching +OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch MONDO:0008572 semapv:UnspecifiedMatching +OMIM:188800 tibial torsion, bilateral medial skos:exactMatch MONDO:0008573 semapv:UnspecifiedMatching +OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:11821 semapv:UnspecifiedMatching +OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:TIMP2 semapv:UnspecifiedMatching +OMIM:188825 TIMP2 skos:exactMatch ncbigene:7077 semapv:UnspecifiedMatching +OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:11822 semapv:UnspecifiedMatching +OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:TIMP3 semapv:UnspecifiedMatching +OMIM:188826 TIMP3 skos:exactMatch ncbigene:7078 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C0406810 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1418907 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1864846 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2607929 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016392 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016393 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016394 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:9388 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:PRKAR1A semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch ncbigene:5573 semapv:UnspecifiedMatching +OMIM:188840 TTN skos:exactMatch hgnc.symbol:12403 semapv:UnspecifiedMatching +OMIM:188840 TTN skos:exactMatch hgnc.symbol:TTN semapv:UnspecifiedMatching +OMIM:188840 TTN skos:exactMatch ncbigene:7273 semapv:UnspecifiedMatching +OMIM:188850 tl antigen skos:exactMatch MONDO:0008574 semapv:UnspecifiedMatching +OMIM:188855 GNLY skos:exactMatch hgnc.symbol:4414 semapv:UnspecifiedMatching +OMIM:188855 GNLY skos:exactMatch hgnc.symbol:GNLY semapv:UnspecifiedMatching +OMIM:188855 GNLY skos:exactMatch ncbigene:10578 semapv:UnspecifiedMatching +OMIM:188860 MAL skos:exactMatch hgnc.symbol:6817 semapv:UnspecifiedMatching +OMIM:188860 MAL skos:exactMatch hgnc.symbol:MAL semapv:UnspecifiedMatching +OMIM:188860 MAL skos:exactMatch ncbigene:4118 semapv:UnspecifiedMatching +OMIM:188890 tobacco addiction, susceptibility to skos:exactMatch MONDO:0100460 semapv:UnspecifiedMatching +OMIM:189000 toe, fifth, number of phalanges 1n skos:exactMatch MONDO:0008576 semapv:UnspecifiedMatching +OMIM:189100 toe, misshapen skos:exactMatch MONDO:0008577 semapv:UnspecifiedMatching +OMIM:189150 toe, rotated fifth skos:exactMatch MONDO:0008578 semapv:UnspecifiedMatching +OMIM:189200 toes, relative length of first and second skos:exactMatch MONDO:0008579 semapv:UnspecifiedMatching +OMIM:189230 toes, space between first and second skos:exactMatch MONDO:0008580 semapv:UnspecifiedMatching +OMIM:189300 tongue curling, folding, or rolling skos:exactMatch MONDO:0044250 semapv:UnspecifiedMatching +OMIM:189490 malposition of teeth with or without hypodontia/oligodontia skos:exactMatch MONDO:0008581 semapv:UnspecifiedMatching +OMIM:189500 witkop syndrome skos:exactMatch MONDO:0008582 semapv:UnspecifiedMatching +OMIM:189600 torticollis skos:exactMatch MONDO:0008583 semapv:UnspecifiedMatching +OMIM:189700 torus palatinus and torus mandibularis skos:exactMatch MONDO:0008584 semapv:UnspecifiedMatching +OMIM:189800 preeclampsia/eclampsia 1 skos:exactMatch MONDO:0100467 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch UMLS:C5239945 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:54714 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:TRN-GTT2-7 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch ncbigene:7214 semapv:UnspecifiedMatching +OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:11748 semapv:UnspecifiedMatching +OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:TFCP2 semapv:UnspecifiedMatching +OMIM:189889 TFCP2 skos:exactMatch ncbigene:7024 semapv:UnspecifiedMatching +OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:1317 semapv:UnspecifiedMatching +OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:GCFC2 semapv:UnspecifiedMatching +OMIM:189901 TCF9 skos:exactMatch ncbigene:6936 semapv:UnspecifiedMatching +OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:11749 semapv:UnspecifiedMatching +OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:TFDP1 semapv:UnspecifiedMatching +OMIM:189902 TFDP1 skos:exactMatch ncbigene:7027 semapv:UnspecifiedMatching +OMIM:189903 NFYA skos:exactMatch hgnc.symbol:7804 semapv:UnspecifiedMatching +OMIM:189903 NFYA skos:exactMatch hgnc.symbol:NFYA semapv:UnspecifiedMatching +OMIM:189903 NFYA skos:exactMatch ncbigene:4800 semapv:UnspecifiedMatching +OMIM:189904 NFYB skos:exactMatch hgnc.symbol:7805 semapv:UnspecifiedMatching +OMIM:189904 NFYB skos:exactMatch hgnc.symbol:NFYB semapv:UnspecifiedMatching +OMIM:189904 NFYB skos:exactMatch ncbigene:4801 semapv:UnspecifiedMatching +OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:11652 semapv:UnspecifiedMatching +OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:TCN1 semapv:UnspecifiedMatching +OMIM:189905 TCN1 skos:exactMatch ncbigene:6947 semapv:UnspecifiedMatching +OMIM:189906 SP1 skos:exactMatch hgnc.symbol:11205 semapv:UnspecifiedMatching +OMIM:189906 SP1 skos:exactMatch hgnc.symbol:SP1 semapv:UnspecifiedMatching +OMIM:189906 SP1 skos:exactMatch ncbigene:6667 semapv:UnspecifiedMatching +OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:11630 semapv:UnspecifiedMatching +OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:HNF1B semapv:UnspecifiedMatching +OMIM:189907 HNF1B skos:exactMatch ncbigene:6928 semapv:UnspecifiedMatching +OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:11639 semapv:UnspecifiedMatching +OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:TCF7 semapv:UnspecifiedMatching +OMIM:189908 TCF7 skos:exactMatch ncbigene:6932 semapv:UnspecifiedMatching +OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:11642 semapv:UnspecifiedMatching +OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:ZEB1 semapv:UnspecifiedMatching +OMIM:189909 ZEB1 skos:exactMatch ncbigene:6935 semapv:UnspecifiedMatching +OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:16293 semapv:UnspecifiedMatching +OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:TRS-AGA2-3 semapv:UnspecifiedMatching +OMIM:189910 TRS-AGA2-3 skos:exactMatch ncbigene:23437 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch UMLS:C3891582 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:38580 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:TRG-CCC1-1 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch ncbigene:7195 semapv:UnspecifiedMatching +OMIM:189912 TRP-TGG3-1 skos:exactMatch UMLS:C1421167 semapv:UnspecifiedMatching +OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:12332 semapv:UnspecifiedMatching +OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:TRP-TGG3-1 semapv:UnspecifiedMatching +OMIM:189912 TRP-TGG3-1 skos:exactMatch ncbigene:7219 semapv:UnspecifiedMatching +OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:12350 semapv:UnspecifiedMatching +OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:TRT-TGT6-1 semapv:UnspecifiedMatching +OMIM:189913 TRT-TGT6-1 skos:exactMatch ncbigene:7236 semapv:UnspecifiedMatching +OMIM:189918 TRK-TTT3-5 skos:exactMatch UMLS:C1421153 semapv:UnspecifiedMatching +OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:12314 semapv:UnspecifiedMatching +OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:TRK-TTT3-5 semapv:UnspecifiedMatching +OMIM:189918 TRK-TTT3-5 skos:exactMatch ncbigene:7206 semapv:UnspecifiedMatching +OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:12341 semapv:UnspecifiedMatching +OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:TRQ-CTG1-5 semapv:UnspecifiedMatching +OMIM:189919 TRQ-CTG1-5 skos:exactMatch ncbigene:7228 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch UMLS:C1421155 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:12316 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:TRL-TAG1-1 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch ncbigene:7208 semapv:UnspecifiedMatching +OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:12353 semapv:UnspecifiedMatching +OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:TRV-AAC1-4 semapv:UnspecifiedMatching +OMIM:189921 TRV-AAC1-4 skos:exactMatch ncbigene:7239 semapv:UnspecifiedMatching +OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:12342 semapv:UnspecifiedMatching +OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:TRQ-TTG1-1 semapv:UnspecifiedMatching +OMIM:189923 TRQ-TTG1-1 skos:exactMatch ncbigene:7229 semapv:UnspecifiedMatching +OMIM:189930 TRP-AGG2-5 skos:exactMatch UMLS:C1421165 semapv:UnspecifiedMatching +OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:12330 semapv:UnspecifiedMatching +OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:TRP-AGG2-5 semapv:UnspecifiedMatching +OMIM:189930 TRP-AGG2-5 skos:exactMatch ncbigene:7217 semapv:UnspecifiedMatching +OMIM:189931 TRP-AGG2-6 skos:exactMatch UMLS:C1421166 semapv:UnspecifiedMatching +OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:12331 semapv:UnspecifiedMatching +OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:TRP-AGG2-6 semapv:UnspecifiedMatching +OMIM:189931 TRP-AGG2-6 skos:exactMatch ncbigene:7218 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch UMLS:C1421154 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:12315 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:TRL-AAG2-3 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch ncbigene:7207 semapv:UnspecifiedMatching +OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:12351 semapv:UnspecifiedMatching +OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:TRT-TGT3-1 semapv:UnspecifiedMatching +OMIM:189933 TRT-TGT3-1 skos:exactMatch ncbigene:7237 semapv:UnspecifiedMatching +OMIM:189940 TPR skos:exactMatch hgnc.symbol:12017 semapv:UnspecifiedMatching +OMIM:189940 TPR skos:exactMatch hgnc.symbol:TPR semapv:UnspecifiedMatching +OMIM:189940 TPR skos:exactMatch ncbigene:7175 semapv:UnspecifiedMatching +OMIM:189960 tracheoesophageal fistula with or without esophageal atresia skos:exactMatch MONDO:0008586 semapv:UnspecifiedMatching +OMIM:189961 tracheopathia osteoplastica skos:exactMatch MONDO:0008587 semapv:UnspecifiedMatching +OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:4650 semapv:UnspecifiedMatching +OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:GTF2E1 semapv:UnspecifiedMatching +OMIM:189962 GTF2E1 skos:exactMatch ncbigene:2960 semapv:UnspecifiedMatching +OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:4648 semapv:UnspecifiedMatching +OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:GTF2B semapv:UnspecifiedMatching +OMIM:189963 GTF2B skos:exactMatch ncbigene:2959 semapv:UnspecifiedMatching +OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:4651 semapv:UnspecifiedMatching +OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:GTF2E2 semapv:UnspecifiedMatching +OMIM:189964 GTF2E2 skos:exactMatch ncbigene:2961 semapv:UnspecifiedMatching +OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:1834 semapv:UnspecifiedMatching +OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:CEBPB semapv:UnspecifiedMatching +OMIM:189965 CEBPB skos:exactMatch ncbigene:1051 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch UMLS:C1420679 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch hgnc.symbol:11714 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch hgnc.symbol:TEAD1 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch ncbigene:7003 semapv:UnspecifiedMatching +OMIM:189968 GTF2F1 skos:exactMatch hgnc.symbol:4652 semapv:UnspecifiedMatching +OMIM:189968 GTF2F1 skos:exactMatch hgnc.symbol:GTF2F1 semapv:UnspecifiedMatching +OMIM:189968 GTF2F1 skos:exactMatch ncbigene:2962 semapv:UnspecifiedMatching +OMIM:189969 GTF2F2 skos:exactMatch hgnc.symbol:4653 semapv:UnspecifiedMatching +OMIM:189969 GTF2F2 skos:exactMatch hgnc.symbol:GTF2F2 semapv:UnspecifiedMatching +OMIM:189969 GTF2F2 skos:exactMatch ncbigene:2963 semapv:UnspecifiedMatching +OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:4411 semapv:UnspecifiedMatching +OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:GNGT1 semapv:UnspecifiedMatching +OMIM:189970 GNGT1 skos:exactMatch ncbigene:2792 semapv:UnspecifiedMatching +OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:3113 semapv:UnspecifiedMatching +OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:E2F1 semapv:UnspecifiedMatching +OMIM:189971 E2F1 skos:exactMatch ncbigene:1869 semapv:UnspecifiedMatching +OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:4655 semapv:UnspecifiedMatching +OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:GTF2H1 semapv:UnspecifiedMatching +OMIM:189972 GTF2H1 skos:exactMatch ncbigene:2965 semapv:UnspecifiedMatching +OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:3316 semapv:UnspecifiedMatching +OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:ELF1 semapv:UnspecifiedMatching +OMIM:189973 ELF1 skos:exactMatch ncbigene:1997 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch UMLS:C1412097 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch UMLS:C4016396 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch UMLS:C5193173 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch hgnc.symbol:76 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch hgnc.symbol:ABL1 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch ncbigene:25 semapv:UnspecifiedMatching +OMIM:189990 MYB skos:exactMatch hgnc.symbol:7545 semapv:UnspecifiedMatching +OMIM:189990 MYB skos:exactMatch hgnc.symbol:MYB semapv:UnspecifiedMatching +OMIM:189990 MYB skos:exactMatch ncbigene:4602 semapv:UnspecifiedMatching +OMIM:190000 TF skos:exactMatch hgnc.symbol:11740 semapv:UnspecifiedMatching +OMIM:190000 TF skos:exactMatch hgnc.symbol:TF semapv:UnspecifiedMatching +OMIM:190000 TF skos:exactMatch ncbigene:7018 semapv:UnspecifiedMatching +OMIM:190010 TFRC skos:exactMatch hgnc.symbol:11763 semapv:UnspecifiedMatching +OMIM:190010 TFRC skos:exactMatch hgnc.symbol:TFRC semapv:UnspecifiedMatching +OMIM:190010 TFRC skos:exactMatch ncbigene:7037 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C0079471 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C3277679 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4016398 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4017653 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4225656 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4225657 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch UMLS:C4479707 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch hgnc.symbol:5173 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch hgnc.symbol:HRAS semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch ncbigene:3265 semapv:UnspecifiedMatching +OMIM:190030 FES skos:exactMatch hgnc.symbol:3657 semapv:UnspecifiedMatching +OMIM:190030 FES skos:exactMatch hgnc.symbol:FES semapv:UnspecifiedMatching +OMIM:190030 FES skos:exactMatch ncbigene:2242 semapv:UnspecifiedMatching +OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:8800 semapv:UnspecifiedMatching +OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:PDGFB semapv:UnspecifiedMatching +OMIM:190040 PDGFB skos:exactMatch ncbigene:5155 semapv:UnspecifiedMatching +OMIM:190060 MOS skos:exactMatch hgnc.symbol:7199 semapv:UnspecifiedMatching +OMIM:190060 MOS skos:exactMatch hgnc.symbol:MOS semapv:UnspecifiedMatching +OMIM:190060 MOS skos:exactMatch ncbigene:4342 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1537502 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C2674644 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3550163 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3550165 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016400 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016401 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016402 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016403 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016404 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4016405 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C4693979 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch UMLS:C5193174 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch hgnc.symbol:6407 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch hgnc.symbol:KRAS semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch ncbigene:3845 semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch UMLS:C0086661 semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch UMLS:C5193175 semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch hgnc.symbol:7553 semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch hgnc.symbol:MYC semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch ncbigene:4609 semapv:UnspecifiedMatching +OMIM:190090 SRC skos:exactMatch hgnc.symbol:11283 semapv:UnspecifiedMatching +OMIM:190090 SRC skos:exactMatch hgnc.symbol:SRC semapv:UnspecifiedMatching +OMIM:190090 SRC skos:exactMatch ncbigene:6714 semapv:UnspecifiedMatching +OMIM:190100 geniospasm 1 skos:exactMatch MONDO:0008588 semapv:UnspecifiedMatching +OMIM:190120 THRA skos:exactMatch hgnc.symbol:11796 semapv:UnspecifiedMatching +OMIM:190120 THRA skos:exactMatch hgnc.symbol:THRA semapv:UnspecifiedMatching +OMIM:190120 THRA skos:exactMatch ncbigene:7067 semapv:UnspecifiedMatching +OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:3431 semapv:UnspecifiedMatching +OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:ERBB3 semapv:UnspecifiedMatching +OMIM:190151 ERBB3 skos:exactMatch ncbigene:2065 semapv:UnspecifiedMatching +OMIM:190160 THRB skos:exactMatch hgnc.symbol:11799 semapv:UnspecifiedMatching +OMIM:190160 THRB skos:exactMatch hgnc.symbol:THRB semapv:UnspecifiedMatching +OMIM:190160 THRB skos:exactMatch ncbigene:7068 semapv:UnspecifiedMatching +OMIM:190170 TGFA skos:exactMatch UMLS:C1336620 semapv:UnspecifiedMatching +OMIM:190170 TGFA skos:exactMatch hgnc.symbol:11765 semapv:UnspecifiedMatching +OMIM:190170 TGFA skos:exactMatch hgnc.symbol:TGFA semapv:UnspecifiedMatching +OMIM:190170 TGFA skos:exactMatch ncbigene:7039 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C0011989 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C1366557 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C1968974 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C4016407 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch UMLS:C4748708 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:11766 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:TGFB1 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch ncbigene:7040 semapv:UnspecifiedMatching +OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:11772 semapv:UnspecifiedMatching +OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:TGFBR1 semapv:UnspecifiedMatching +OMIM:190181 TGFBR1 skos:exactMatch ncbigene:7046 semapv:UnspecifiedMatching +OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:11773 semapv:UnspecifiedMatching +OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:TGFBR2 semapv:UnspecifiedMatching +OMIM:190182 TGFBR2 skos:exactMatch ncbigene:7048 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch UMLS:C1420713 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch UMLS:C4016409 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:11777 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:TGM1 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch ncbigene:7051 semapv:UnspecifiedMatching +OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:11778 semapv:UnspecifiedMatching +OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:TGM2 semapv:UnspecifiedMatching +OMIM:190196 TGM2 skos:exactMatch ncbigene:7052 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch UMLS:C1413560 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch UMLS:C3809374 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:2172 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:CNTN2 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch ncbigene:6900 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch UMLS:C1334889 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch UMLS:C3887892 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch UMLS:C4014970 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:7881 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:NOTCH1 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch ncbigene:4851 semapv:UnspecifiedMatching +OMIM:190200 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch MONDO:0008589 semapv:UnspecifiedMatching +OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:11768 semapv:UnspecifiedMatching +OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:TGFB2 semapv:UnspecifiedMatching +OMIM:190220 TGFB2 skos:exactMatch ncbigene:7042 semapv:UnspecifiedMatching +OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:11769 semapv:UnspecifiedMatching +OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:TGFB3 semapv:UnspecifiedMatching +OMIM:190230 TGFB3 skos:exactMatch ncbigene:7043 semapv:UnspecifiedMatching +OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:11951 semapv:UnspecifiedMatching +OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:TNP1 semapv:UnspecifiedMatching +OMIM:190231 TNP1 skos:exactMatch ncbigene:7141 semapv:UnspecifiedMatching +OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:11952 semapv:UnspecifiedMatching +OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:TNP2 semapv:UnspecifiedMatching +OMIM:190232 TNP2 skos:exactMatch ncbigene:7142 semapv:UnspecifiedMatching +OMIM:190300 tremor, hereditary essential, 1 skos:exactMatch MONDO:0008590 semapv:UnspecifiedMatching +OMIM:190300 tremor, hereditary essential, 1 skos:exactMatch UMLS:C1860861 semapv:UnspecifiedMatching +OMIM:190310 tremor, nystagmus, and duodenal ulcer skos:exactMatch MONDO:0008591 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch UMLS:C1420150 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch UMLS:C2746066 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:10979 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:SLC25A1 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch ncbigene:6576 semapv:UnspecifiedMatching +OMIM:190320 trichodentoosseous syndrome skos:exactMatch MONDO:0008592 semapv:UnspecifiedMatching +OMIM:190330 trichomegaly skos:exactMatch MONDO:0008593 semapv:UnspecifiedMatching +OMIM:190330 trichomegaly skos:exactMatch Orphanet:411788 semapv:UnspecifiedMatching +OMIM:190330 trichomegaly skos:exactMatch UMLS:C0854699 semapv:UnspecifiedMatching +OMIM:190340 discoid fibromas, familial multiple skos:exactMatch MONDO:0008594 semapv:UnspecifiedMatching +OMIM:190345 trichoepitheliomas, multiple desmoplastic skos:exactMatch MONDO:0008595 semapv:UnspecifiedMatching +OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch MONDO:0008596 semapv:UnspecifiedMatching +OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching +OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching +OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch MONDO:0008597 semapv:UnspecifiedMatching +OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching +OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching +OMIM:190360 trichodysplasia-xeroderma skos:exactMatch MONDO:0008598 semapv:UnspecifiedMatching +OMIM:190370 TCHH skos:exactMatch hgnc.symbol:11791 semapv:UnspecifiedMatching +OMIM:190370 TCHH skos:exactMatch hgnc.symbol:TCHH semapv:UnspecifiedMatching +OMIM:190370 TCHH skos:exactMatch ncbigene:7062 semapv:UnspecifiedMatching +OMIM:190400 trigeminal neuralgia skos:exactMatch MONDO:0008599 semapv:UnspecifiedMatching +OMIM:190410 trigger thumb skos:exactMatch MONDO:0008600 semapv:UnspecifiedMatching +OMIM:190420 triglyceride storage disease, iia 1 skos:exactMatch MONDO:0008601 semapv:UnspecifiedMatching +OMIM:190430 triglyceride storage disease, iia 2 skos:exactMatch MONDO:0008602 semapv:UnspecifiedMatching +OMIM:190440 trigonocephaly 1 skos:exactMatch MONDO:0008603 semapv:UnspecifiedMatching +OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:12009 semapv:UnspecifiedMatching +OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:TPI1 semapv:UnspecifiedMatching +OMIM:190450 TPI1 skos:exactMatch ncbigene:7167 semapv:UnspecifiedMatching +OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:12016 semapv:UnspecifiedMatching +OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:TPP2 semapv:UnspecifiedMatching +OMIM:190470 TPP2 skos:exactMatch ncbigene:7174 semapv:UnspecifiedMatching +OMIM:190500 triphalangeal thumb with double phalanges skos:exactMatch MONDO:0008604 semapv:UnspecifiedMatching +OMIM:190600 triphalangeal thumb, nonopposable skos:exactMatch MONDO:0008605 semapv:UnspecifiedMatching +OMIM:190605 triphalangeal thumb with polysyndactyly skos:exactMatch MONDO:0017454 semapv:UnspecifiedMatching +OMIM:190650 triphalangeal thumbs and dislocation of patella skos:exactMatch MONDO:0008606 semapv:UnspecifiedMatching +OMIM:190680 triphalangeal thumbs with brachyectrodactyly skos:exactMatch MONDO:0008607 semapv:UnspecifiedMatching +OMIM:190685 down syndrome skos:exactMatch MONDO:0008608 semapv:UnspecifiedMatching +OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:12862 semapv:UnspecifiedMatching +OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:ZFP36 semapv:UnspecifiedMatching +OMIM:190700 ZFP36 skos:exactMatch ncbigene:7538 semapv:UnspecifiedMatching +OMIM:190800 tristichiasis skos:exactMatch MONDO:0008609 semapv:UnspecifiedMatching +OMIM:190900 tritanopia skos:exactMatch MONDO:0008610 semapv:UnspecifiedMatching +OMIM:190920 TPBG skos:exactMatch hgnc.symbol:12004 semapv:UnspecifiedMatching +OMIM:190920 TPBG skos:exactMatch hgnc.symbol:TPBG semapv:UnspecifiedMatching +OMIM:190920 TPBG skos:exactMatch ncbigene:7162 semapv:UnspecifiedMatching +OMIM:190930 TMOD1 skos:exactMatch hgnc.symbol:11871 semapv:UnspecifiedMatching +OMIM:190930 TMOD1 skos:exactMatch hgnc.symbol:TMOD1 semapv:UnspecifiedMatching +OMIM:190930 TMOD1 skos:exactMatch ncbigene:7111 semapv:UnspecifiedMatching +OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:12011 semapv:UnspecifiedMatching +OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:TPM2 semapv:UnspecifiedMatching +OMIM:190990 TPM2 skos:exactMatch ncbigene:7169 semapv:UnspecifiedMatching +OMIM:191000 trochlea of the humerus, aplasia of skos:exactMatch MONDO:0008611 semapv:UnspecifiedMatching +OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:12010 semapv:UnspecifiedMatching +OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:TPM1 semapv:UnspecifiedMatching +OMIM:191010 TPM1 skos:exactMatch ncbigene:7168 semapv:UnspecifiedMatching +OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:12012 semapv:UnspecifiedMatching +OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:TPM3 semapv:UnspecifiedMatching +OMIM:191030 TPM3 skos:exactMatch ncbigene:7170 semapv:UnspecifiedMatching +OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:11944 semapv:UnspecifiedMatching +OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:TNNC2 semapv:UnspecifiedMatching +OMIM:191039 TNNC2 skos:exactMatch ncbigene:7125 semapv:UnspecifiedMatching +OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:11943 semapv:UnspecifiedMatching +OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:TNNC1 semapv:UnspecifiedMatching +OMIM:191040 TNNC1 skos:exactMatch ncbigene:7134 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch UMLS:C1420827 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:11948 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:TNNT1 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch ncbigene:7138 semapv:UnspecifiedMatching +OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:11945 semapv:UnspecifiedMatching +OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:TNNI1 semapv:UnspecifiedMatching +OMIM:191042 TNNI1 skos:exactMatch ncbigene:7135 semapv:UnspecifiedMatching +OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:11946 semapv:UnspecifiedMatching +OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:TNNI2 semapv:UnspecifiedMatching +OMIM:191043 TNNI2 skos:exactMatch ncbigene:7136 semapv:UnspecifiedMatching +OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:11947 semapv:UnspecifiedMatching +OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:TNNI3 semapv:UnspecifiedMatching +OMIM:191044 TNNI3 skos:exactMatch ncbigene:7137 semapv:UnspecifiedMatching +OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:11949 semapv:UnspecifiedMatching +OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:TNNT2 semapv:UnspecifiedMatching +OMIM:191045 TNNT2 skos:exactMatch ncbigene:7139 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch UMLS:C1421476 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:12729 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:WARS1 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch ncbigene:7453 semapv:UnspecifiedMatching +OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:12008 semapv:UnspecifiedMatching +OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:TPH1 semapv:UnspecifiedMatching +OMIM:191060 TPH1 skos:exactMatch ncbigene:7166 semapv:UnspecifiedMatching +OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:11708 semapv:UnspecifiedMatching +OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:TDO2 semapv:UnspecifiedMatching +OMIM:191070 TDO2 skos:exactMatch ncbigene:6999 semapv:UnspecifiedMatching +OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:12019 semapv:UnspecifiedMatching +OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:TPSAB1 semapv:UnspecifiedMatching +OMIM:191080 TPSAB1 skos:exactMatch ncbigene:7177 semapv:UnspecifiedMatching +OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:14120 semapv:UnspecifiedMatching +OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:TPSB2 semapv:UnspecifiedMatching +OMIM:191081 TPSB2 skos:exactMatch ncbigene:64499 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch UMLS:C0694895 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch UMLS:C1847648 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch UMLS:C1860707 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:12363 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:TSC2 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch ncbigene:7249 semapv:UnspecifiedMatching +OMIM:191100 tuberous sclerosis 1 skos:exactMatch MONDO:0008612 semapv:UnspecifiedMatching +OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:12407 semapv:UnspecifiedMatching +OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:TUBA4A semapv:UnspecifiedMatching +OMIM:191110 TUBA4A skos:exactMatch ncbigene:7277 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch UMLS:C1421231 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch UMLS:C4014283 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch UMLS:C4551592 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch hgnc.symbol:20778 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch hgnc.symbol:TUBB semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch ncbigene:203068 semapv:UnspecifiedMatching +OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:12417 semapv:UnspecifiedMatching +OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:TUBG1 semapv:UnspecifiedMatching +OMIM:191135 TUBG1 skos:exactMatch ncbigene:7283 semapv:UnspecifiedMatching +OMIM:191150 tuftsin deficiency skos:exactMatch MONDO:0008613 semapv:UnspecifiedMatching +OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:11853 semapv:UnspecifiedMatching +OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:TM4SF1 semapv:UnspecifiedMatching +OMIM:191155 TM4SF1 skos:exactMatch ncbigene:4071 semapv:UnspecifiedMatching +OMIM:191160 TNF skos:exactMatch hgnc.symbol:11892 semapv:UnspecifiedMatching +OMIM:191160 TNF skos:exactMatch hgnc.symbol:TNF semapv:UnspecifiedMatching +OMIM:191160 TNF skos:exactMatch ncbigene:7124 semapv:UnspecifiedMatching +OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:11894 semapv:UnspecifiedMatching +OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:TNFAIP1 semapv:UnspecifiedMatching +OMIM:191161 TNFAIP1 skos:exactMatch ncbigene:7126 semapv:UnspecifiedMatching +OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:11896 semapv:UnspecifiedMatching +OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:TNFAIP3 semapv:UnspecifiedMatching +OMIM:191163 TNFAIP3 skos:exactMatch ncbigene:7128 semapv:UnspecifiedMatching +OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:3221 semapv:UnspecifiedMatching +OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:EFNA1 semapv:UnspecifiedMatching +OMIM:191164 EFNA1 skos:exactMatch ncbigene:1942 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0024305 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0029463 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0079419 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0205770 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0206624 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C0431109 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1835398 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1851161 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1859973 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C2674060 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C2675080 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C3553606 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4016419 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4748488 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch UMLS:C4749067 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch hgnc.symbol:11998 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch hgnc.symbol:TP53 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch ncbigene:7157 semapv:UnspecifiedMatching +OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:12028 semapv:UnspecifiedMatching +OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:HSP90B1 semapv:UnspecifiedMatching +OMIM:191175 HSP90B1 skos:exactMatch ncbigene:7184 semapv:UnspecifiedMatching +OMIM:191181 suppressor of tumorigenicity 3 skos:exactMatch MONDO:0008614 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1363984 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:11916 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:TNFRSF1A semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch ncbigene:7132 semapv:UnspecifiedMatching +OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:11917 semapv:UnspecifiedMatching +OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:TNFRSF1B semapv:UnspecifiedMatching +OMIM:191191 TNFRSF1B skos:exactMatch ncbigene:7133 semapv:UnspecifiedMatching +OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:6860 semapv:UnspecifiedMatching +OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:MAP3K8 semapv:UnspecifiedMatching +OMIM:191195 MAP3K8 skos:exactMatch ncbigene:1326 semapv:UnspecifiedMatching +OMIM:191200 tune deafness skos:exactMatch MONDO:0008615 semapv:UnspecifiedMatching +OMIM:191250 twinning due to superfetation skos:exactMatch MONDO:0008616 semapv:UnspecifiedMatching +OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:12443 semapv:UnspecifiedMatching +OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:TYRL semapv:UnspecifiedMatching +OMIM:191275 DCT skos:exactMatch hgnc.symbol:2709 semapv:UnspecifiedMatching +OMIM:191275 DCT skos:exactMatch hgnc.symbol:DCT semapv:UnspecifiedMatching +OMIM:191275 DCT skos:exactMatch ncbigene:1638 semapv:UnspecifiedMatching +OMIM:191290 TH skos:exactMatch hgnc.symbol:11782 semapv:UnspecifiedMatching +OMIM:191290 TH skos:exactMatch hgnc.symbol:TH semapv:UnspecifiedMatching +OMIM:191290 TH skos:exactMatch ncbigene:7054 semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch UMLS:C1332419 semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch hgnc.symbol:1057 semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch hgnc.symbol:BLK semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch ncbigene:640 semapv:UnspecifiedMatching +OMIM:191306 KDR skos:exactMatch hgnc.symbol:6307 semapv:UnspecifiedMatching +OMIM:191306 KDR skos:exactMatch hgnc.symbol:KDR semapv:UnspecifiedMatching +OMIM:191306 KDR skos:exactMatch ncbigene:3791 semapv:UnspecifiedMatching +OMIM:191311 DDR2 skos:exactMatch hgnc.symbol:2731 semapv:UnspecifiedMatching +OMIM:191311 DDR2 skos:exactMatch hgnc.symbol:DDR2 semapv:UnspecifiedMatching +OMIM:191311 DDR2 skos:exactMatch ncbigene:4921 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch UMLS:C0020074 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch UMLS:C0919487 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch UMLS:C1833921 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch hgnc.symbol:8031 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch hgnc.symbol:NTRK1 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch ncbigene:4914 semapv:UnspecifiedMatching +OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:8033 semapv:UnspecifiedMatching +OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:NTRK3 semapv:UnspecifiedMatching +OMIM:191316 NTRK3 skos:exactMatch ncbigene:4916 semapv:UnspecifiedMatching +OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:12453 semapv:UnspecifiedMatching +OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:U2AF1 semapv:UnspecifiedMatching +OMIM:191317 U2AF1 skos:exactMatch ncbigene:7307 semapv:UnspecifiedMatching +OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:23156 semapv:UnspecifiedMatching +OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:U2AF2 semapv:UnspecifiedMatching +OMIM:191318 U2AF2 skos:exactMatch ncbigene:11338 semapv:UnspecifiedMatching +OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:12458 semapv:UnspecifiedMatching +OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:UBA52 semapv:UnspecifiedMatching +OMIM:191321 UBA52 skos:exactMatch ncbigene:7311 semapv:UnspecifiedMatching +OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:12471 semapv:UnspecifiedMatching +OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:UBA7 semapv:UnspecifiedMatching +OMIM:191325 UBA7 skos:exactMatch ncbigene:7318 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch UMLS:C1421371 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:12587 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:UQCRFS1 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch ncbigene:7386 semapv:UnspecifiedMatching +OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:12585 semapv:UnspecifiedMatching +OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:UQCRC1 semapv:UnspecifiedMatching +OMIM:191328 UQCRC1 skos:exactMatch ncbigene:7384 semapv:UnspecifiedMatching +OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:12586 semapv:UnspecifiedMatching +OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:UQCRC2 semapv:UnspecifiedMatching +OMIM:191329 UQCRC2 skos:exactMatch ncbigene:7385 semapv:UnspecifiedMatching +OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:12582 semapv:UnspecifiedMatching +OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:UQCRB semapv:UnspecifiedMatching +OMIM:191330 UQCRB skos:exactMatch ncbigene:7381 semapv:UnspecifiedMatching +OMIM:191339 UBB skos:exactMatch hgnc.symbol:12463 semapv:UnspecifiedMatching +OMIM:191339 UBB skos:exactMatch hgnc.symbol:UBB semapv:UnspecifiedMatching +OMIM:191339 UBB skos:exactMatch ncbigene:7314 semapv:UnspecifiedMatching +OMIM:191340 UBC skos:exactMatch hgnc.symbol:12468 semapv:UnspecifiedMatching +OMIM:191340 UBC skos:exactMatch hgnc.symbol:UBC semapv:UnspecifiedMatching +OMIM:191340 UBC skos:exactMatch ncbigene:7316 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch UMLS:C1421309 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch UMLS:C3150899 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch UMLS:C3809665 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:12513 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:UCHL1 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch ncbigene:7345 semapv:UnspecifiedMatching +OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:10417 semapv:UnspecifiedMatching +OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:RPS27A semapv:UnspecifiedMatching +OMIM:191343 RPS27A skos:exactMatch ncbigene:6233 semapv:UnspecifiedMatching +OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:2995 semapv:UnspecifiedMatching +OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:DPAGT1 semapv:UnspecifiedMatching +OMIM:191350 DPAGT1 skos:exactMatch ncbigene:1798 semapv:UnspecifiedMatching +OMIM:191390 inflammatory bowel disease 11 skos:exactMatch MONDO:0008617 semapv:UnspecifiedMatching +OMIM:191400 ulna and fibula, hypoplasia of skos:exactMatch MONDO:0008618 semapv:UnspecifiedMatching +OMIM:191420 ulna metaphyseal dysplasia syndrome skos:exactMatch MONDO:0008619 semapv:UnspecifiedMatching +OMIM:191440 ulnar hypoplasia skos:exactMatch MONDO:0008620 semapv:UnspecifiedMatching +OMIM:191480 uncombable hair syndrome 1 skos:exactMatch MONDO:0020736 semapv:UnspecifiedMatching +OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly skos:exactMatch MONDO:0008622 semapv:UnspecifiedMatching +OMIM:191500 undritz anomaly skos:exactMatch MONDO:0008623 semapv:UnspecifiedMatching +OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:29905 semapv:UnspecifiedMatching +OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:CSDE1 semapv:UnspecifiedMatching +OMIM:191510 CSDE1 skos:exactMatch ncbigene:7812 semapv:UnspecifiedMatching +OMIM:191520 upington disease skos:exactMatch MONDO:0008624 semapv:UnspecifiedMatching +OMIM:191523 USF1 skos:exactMatch hgnc.symbol:12593 semapv:UnspecifiedMatching +OMIM:191523 USF1 skos:exactMatch hgnc.symbol:USF1 semapv:UnspecifiedMatching +OMIM:191523 USF1 skos:exactMatch ncbigene:7391 semapv:UnspecifiedMatching +OMIM:191525 UNG skos:exactMatch hgnc.symbol:12572 semapv:UnspecifiedMatching +OMIM:191525 UNG skos:exactMatch hgnc.symbol:UNG semapv:UnspecifiedMatching +OMIM:191525 UNG skos:exactMatch ncbigene:7374 semapv:UnspecifiedMatching +OMIM:191530 urate-binding globulin, decrease 1n skos:exactMatch MONDO:0008625 semapv:UnspecifiedMatching +OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:12575 semapv:UnspecifiedMatching +OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:UOX semapv:UnspecifiedMatching +OMIM:191550 ureter, bifid or double skos:exactMatch MONDO:0008626 semapv:UnspecifiedMatching +OMIM:191600 ureter, cancer of skos:exactMatch MONDO:0008627 semapv:UnspecifiedMatching +OMIM:191650 ureterocele skos:exactMatch MONDO:0008628 semapv:UnspecifiedMatching +OMIM:191700 urolithiasis, uric acid, autosomal dominant skos:exactMatch MONDO:0008629 semapv:UnspecifiedMatching +OMIM:191710 CMPK1 skos:exactMatch hgnc.symbol:18170 semapv:UnspecifiedMatching +OMIM:191710 CMPK1 skos:exactMatch hgnc.symbol:CMPK1 semapv:UnspecifiedMatching +OMIM:191710 CMPK1 skos:exactMatch ncbigene:51727 semapv:UnspecifiedMatching +OMIM:191720 NT5C skos:exactMatch hgnc.symbol:17144 semapv:UnspecifiedMatching +OMIM:191720 NT5C skos:exactMatch hgnc.symbol:NT5C semapv:UnspecifiedMatching +OMIM:191720 NT5C skos:exactMatch ncbigene:30833 semapv:UnspecifiedMatching +OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:12576 semapv:UnspecifiedMatching +OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:UPP1 semapv:UnspecifiedMatching +OMIM:191730 UPP1 skos:exactMatch ncbigene:7378 semapv:UnspecifiedMatching +OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:12530 semapv:UnspecifiedMatching +OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:UGT1A1 semapv:UnspecifiedMatching +OMIM:191740 UGT1A1 skos:exactMatch ncbigene:54658 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch UMLS:C1421321 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:12527 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:UGP2 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch ncbigene:7360 semapv:UnspecifiedMatching +OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch MONDO:0008630 semapv:UnspecifiedMatching +OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C0403645 semapv:UnspecifiedMatching +OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching +OMIM:191830 renal hypodysplasia/aplasia 1 skos:exactMatch MONDO:0024519 semapv:UnspecifiedMatching +OMIM:191840 PLAU skos:exactMatch hgnc.symbol:9052 semapv:UnspecifiedMatching +OMIM:191840 PLAU skos:exactMatch hgnc.symbol:PLAU semapv:UnspecifiedMatching +OMIM:191840 PLAU skos:exactMatch ncbigene:5328 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch UMLS:C1421351 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch UMLS:C1835934 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch UMLS:C1859040 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch UMLS:C4551496 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch hgnc.symbol:12559 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch hgnc.symbol:UMOD semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch ncbigene:7369 semapv:UnspecifiedMatching +OMIM:191850 urticaria, aquagenic skos:exactMatch MONDO:0008632 semapv:UnspecifiedMatching +OMIM:191900 muckle-wells syndrome skos:exactMatch MONDO:0008633 semapv:UnspecifiedMatching +OMIM:191950 urticaria, familial localized heat skos:exactMatch MONDO:0008634 semapv:UnspecifiedMatching +OMIM:192000 uterine anomalies skos:exactMatch MONDO:0008635 semapv:UnspecifiedMatching +OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:12523 semapv:UnspecifiedMatching +OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:SCGB1A1 semapv:UnspecifiedMatching +OMIM:192020 SCGB1A1 skos:exactMatch ncbigene:7356 semapv:UnspecifiedMatching +OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis skos:exactMatch MONDO:0008636 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C0694872 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C1708349 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C3469524 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C3549742 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C4016426 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C4016427 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C4016428 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch UMLS:C4551988 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:1748 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:CDH1 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch ncbigene:999 semapv:UnspecifiedMatching +OMIM:192100 uvula, bifid skos:exactMatch MONDO:0008637 semapv:UnspecifiedMatching +OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:865 semapv:UnspecifiedMatching +OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:ATP6V0A1 semapv:UnspecifiedMatching +OMIM:192130 ATP6V0A1 skos:exactMatch ncbigene:535 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C1412673 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:853 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:ATP6V1B1 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch ncbigene:525 semapv:UnspecifiedMatching +OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:12651 semapv:UnspecifiedMatching +OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:VARS1 semapv:UnspecifiedMatching +OMIM:192150 VARS1 skos:exactMatch ncbigene:7407 semapv:UnspecifiedMatching +OMIM:192200 varicose veins skos:exactMatch MONDO:0008638 semapv:UnspecifiedMatching +OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:12663 semapv:UnspecifiedMatching +OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:VCAM1 semapv:UnspecifiedMatching +OMIM:192225 VCAM1 skos:exactMatch ncbigene:7412 semapv:UnspecifiedMatching +OMIM:192240 VEGFA skos:exactMatch hgnc.symbol:12680 semapv:UnspecifiedMatching +OMIM:192240 VEGFA skos:exactMatch hgnc.symbol:VEGFA semapv:UnspecifiedMatching +OMIM:192240 VEGFA skos:exactMatch ncbigene:7422 semapv:UnspecifiedMatching +OMIM:192300 vascular helix of umbilical cord skos:exactMatch MONDO:0008639 semapv:UnspecifiedMatching +OMIM:192310 vasculitis, lymphocytic, nodular skos:exactMatch MONDO:0008640 semapv:UnspecifiedMatching +OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch MONDO:0008641 semapv:UnspecifiedMatching +OMIM:192320 VIP skos:exactMatch hgnc.symbol:12693 semapv:UnspecifiedMatching +OMIM:192320 VIP skos:exactMatch hgnc.symbol:VIP semapv:UnspecifiedMatching +OMIM:192320 VIP skos:exactMatch ncbigene:7432 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch UMLS:C1336936 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:12694 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:VIPR1 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch ncbigene:7433 semapv:UnspecifiedMatching +OMIM:192340 AVP skos:exactMatch hgnc.symbol:894 semapv:UnspecifiedMatching +OMIM:192340 AVP skos:exactMatch hgnc.symbol:AVP semapv:UnspecifiedMatching +OMIM:192340 AVP skos:exactMatch ncbigene:551 semapv:UnspecifiedMatching +OMIM:192350 vater/vacterl association skos:exactMatch MONDO:0008642 semapv:UnspecifiedMatching +OMIM:192400 veins, pattern of, on anterior thorax skos:exactMatch MONDO:0008643 semapv:UnspecifiedMatching +OMIM:192430 velocardiofacial syndrome skos:exactMatch MONDO:0008644 semapv:UnspecifiedMatching +OMIM:192430 velocardiofacial syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching +OMIM:192430 velocardiofacial syndrome skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching +OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch MONDO:0008645 semapv:UnspecifiedMatching +OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch Orphanet:3201 semapv:UnspecifiedMatching +OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch UMLS:C1860471 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch MONDO:0100316 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C3277700 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C4551647 semapv:UnspecifiedMatching +OMIM:192600 cardiomyopathy, familial hypertrophic, 1 skos:exactMatch MONDO:0008647 semapv:UnspecifiedMatching +OMIM:192605 ventricular tachycardia, familial skos:exactMatch MONDO:0008648 semapv:UnspecifiedMatching +OMIM:192700 venular insufficiency, systemic skos:exactMatch MONDO:0008649 semapv:UnspecifiedMatching +OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis skos:exactMatch MONDO:0008650 semapv:UnspecifiedMatching +OMIM:192900 vertebral hypoplasia with lumbar kyphosis skos:exactMatch MONDO:0008651 semapv:UnspecifiedMatching +OMIM:192950 vertical talus, congenital skos:exactMatch MONDO:0008652 semapv:UnspecifiedMatching +OMIM:192968 ITGA1 skos:exactMatch UMLS:C1442490 semapv:UnspecifiedMatching +OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:6134 semapv:UnspecifiedMatching +OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:ITGA1 semapv:UnspecifiedMatching +OMIM:192968 ITGA1 skos:exactMatch ncbigene:3672 semapv:UnspecifiedMatching +OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:6137 semapv:UnspecifiedMatching +OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:ITGA2 semapv:UnspecifiedMatching +OMIM:192974 ITGA2 skos:exactMatch ncbigene:3673 semapv:UnspecifiedMatching +OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:6140 semapv:UnspecifiedMatching +OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:ITGA4 semapv:UnspecifiedMatching +OMIM:192975 ITGA4 skos:exactMatch ncbigene:3676 semapv:UnspecifiedMatching +OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:12698 semapv:UnspecifiedMatching +OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:VLDLR semapv:UnspecifiedMatching +OMIM:192977 VLDLR skos:exactMatch ncbigene:7436 semapv:UnspecifiedMatching +OMIM:193000 vesicoureteral reflux 1 skos:exactMatch MONDO:0008653 semapv:UnspecifiedMatching +OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:10935 semapv:UnspecifiedMatching +OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:SLC18A2 semapv:UnspecifiedMatching +OMIM:193001 SLC18A2 skos:exactMatch ncbigene:6571 semapv:UnspecifiedMatching +OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:10934 semapv:UnspecifiedMatching +OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:SLC18A1 semapv:UnspecifiedMatching +OMIM:193002 SLC18A1 skos:exactMatch ncbigene:6570 semapv:UnspecifiedMatching +OMIM:193003 spinocerebellar ataxia 27a skos:exactMatch MONDO:0008654 semapv:UnspecifiedMatching +OMIM:193005 vestibulocochlear dysfunction, progressive skos:exactMatch MONDO:0008655 semapv:UnspecifiedMatching +OMIM:193007 vertigo, benign recurrent skos:exactMatch MONDO:8000018 semapv:UnspecifiedMatching +OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:12690 semapv:UnspecifiedMatching +OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:VIL1 semapv:UnspecifiedMatching +OMIM:193040 VIL1 skos:exactMatch ncbigene:7429 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch UMLS:C1421451 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch UMLS:C4479666 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch UMLS:C4479667 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch hgnc.symbol:12692 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch hgnc.symbol:VIM semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch ncbigene:7431 semapv:UnspecifiedMatching +OMIM:193065 VCL skos:exactMatch hgnc.symbol:12665 semapv:UnspecifiedMatching +OMIM:193065 VCL skos:exactMatch hgnc.symbol:VCL semapv:UnspecifiedMatching +OMIM:193065 VCL skos:exactMatch ncbigene:7414 semapv:UnspecifiedMatching +OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:3749 semapv:UnspecifiedMatching +OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:FLI1 semapv:UnspecifiedMatching +OMIM:193067 FLI1 skos:exactMatch ncbigene:2313 semapv:UnspecifiedMatching +OMIM:193070 virus rd114 RNA complementarity skos:exactMatch MONDO:0008658 semapv:UnspecifiedMatching +OMIM:193090 transcobalamin 1 deficiency skos:exactMatch MONDO:0008659 semapv:UnspecifiedMatching +OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch MONDO:0008660 semapv:UnspecifiedMatching +OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch Orphanet:89937 semapv:UnspecifiedMatching +OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch UMLS:C0342642 semapv:UnspecifiedMatching +OMIM:193190 VTN skos:exactMatch hgnc.symbol:12724 semapv:UnspecifiedMatching +OMIM:193190 VTN skos:exactMatch hgnc.symbol:VTN semapv:UnspecifiedMatching +OMIM:193190 VTN skos:exactMatch ncbigene:7448 semapv:UnspecifiedMatching +OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch MONDO:0700077 semapv:UnspecifiedMatching +OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:6150 semapv:UnspecifiedMatching +OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:ITGAV semapv:UnspecifiedMatching +OMIM:193210 ITGAV skos:exactMatch ncbigene:3685 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch MONDO:0008662 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:263347 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching +OMIM:193230 vitreoretinal degeneration, snowflake iia skos:exactMatch MONDO:0008663 semapv:UnspecifiedMatching +OMIM:193235 vitreoretinopathy, neovascular inflammatory skos:exactMatch MONDO:0100450 semapv:UnspecifiedMatching +OMIM:193240 vocal cord paralysis and ptosis skos:exactMatch MONDO:0008665 semapv:UnspecifiedMatching +OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:12672 semapv:UnspecifiedMatching +OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:VDAC2 semapv:UnspecifiedMatching +OMIM:193245 VDAC2 skos:exactMatch ncbigene:7417 semapv:UnspecifiedMatching +OMIM:193250 volvulus of midgut skos:exactMatch MONDO:0008666 semapv:UnspecifiedMatching +OMIM:193300 von hippel-lindau syndrome skos:exactMatch MONDO:0008667 semapv:UnspecifiedMatching +OMIM:193300 von hippel-lindau syndrome skos:exactMatch Orphanet:892 semapv:UnspecifiedMatching +OMIM:193300 von hippel-lindau syndrome skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching +OMIM:193400 von willebrand disease, iia 1 skos:exactMatch MONDO:0008668 semapv:UnspecifiedMatching +OMIM:193450 vulvovaginitis, allergic seminal skos:exactMatch MONDO:0008669 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch MONDO:0008670 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch UMLS:C1847800 semapv:UnspecifiedMatching +OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch MONDO:0008671 semapv:UnspecifiedMatching +OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching +OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching +OMIM:193520 watson syndrome skos:exactMatch MONDO:0008672 semapv:UnspecifiedMatching +OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:12761 semapv:UnspecifiedMatching +OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:WEE1 semapv:UnspecifiedMatching +OMIM:193525 WEE1 skos:exactMatch ncbigene:7465 semapv:UnspecifiedMatching +OMIM:193530 weyers acrofacial dysostosis skos:exactMatch MONDO:0008673 semapv:UnspecifiedMatching +OMIM:193670 whim syndrome 1 skos:exactMatch MONDO:8000006 semapv:UnspecifiedMatching +OMIM:193700 arthrogryposis, distal, iia 2a skos:exactMatch MONDO:0008675 semapv:UnspecifiedMatching +OMIM:193900 white sponge nevus 1 skos:exactMatch MONDO:0008676 semapv:UnspecifiedMatching +OMIM:194000 widow's peak skos:exactMatch MONDO:0008677 semapv:UnspecifiedMatching +OMIM:194050 williams-beuren syndrome skos:exactMatch MONDO:0008678 semapv:UnspecifiedMatching +OMIM:194050 williams-beuren syndrome skos:exactMatch Orphanet:904 semapv:UnspecifiedMatching +OMIM:194050 williams-beuren syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching +OMIM:194070 wilms tumor 1 skos:exactMatch MONDO:0008679 semapv:UnspecifiedMatching +OMIM:194070 wilms tumor 1 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching +OMIM:194070 wilms tumor 1 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching +OMIM:194071 wilms tumor 2 skos:exactMatch MONDO:0008680 semapv:UnspecifiedMatching +OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome skos:exactMatch MONDO:0008681 semapv:UnspecifiedMatching +OMIM:194080 denys-drash syndrome skos:exactMatch MONDO:0008682 semapv:UnspecifiedMatching +OMIM:194090 wilms tumor 3 skos:exactMatch MONDO:0008683 semapv:UnspecifiedMatching +OMIM:194190 wolf-hirschhorn syndrome skos:exactMatch MONDO:0008684 semapv:UnspecifiedMatching +OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch MONDO:0008685 semapv:UnspecifiedMatching +OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch UMLS:C0043202 semapv:UnspecifiedMatching +OMIM:194300 woolly hair, autosomal dominant skos:exactMatch MONDO:0020717 semapv:UnspecifiedMatching +OMIM:194320 woronets trait skos:exactMatch MONDO:0008687 semapv:UnspecifiedMatching +OMIM:194350 wt limb-blood syndrome skos:exactMatch MONDO:0008688 semapv:UnspecifiedMatching +OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:12801 semapv:UnspecifiedMatching +OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:XBP1 semapv:UnspecifiedMatching +OMIM:194355 XBP1 skos:exactMatch ncbigene:7494 semapv:UnspecifiedMatching +OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:12828 semapv:UnspecifiedMatching +OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:XRCC1 semapv:UnspecifiedMatching +OMIM:194360 XRCC1 skos:exactMatch ncbigene:7515 semapv:UnspecifiedMatching +OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:12831 semapv:UnspecifiedMatching +OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:XRCC4 semapv:UnspecifiedMatching +OMIM:194363 XRCC4 skos:exactMatch ncbigene:7518 semapv:UnspecifiedMatching +OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:12833 semapv:UnspecifiedMatching +OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:XRCC5 semapv:UnspecifiedMatching +OMIM:194364 XRCC5 skos:exactMatch ncbigene:7520 semapv:UnspecifiedMatching +OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch MONDO:0008689 semapv:UnspecifiedMatching +OMIM:194400 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch MONDO:0008690 semapv:UnspecifiedMatching +OMIM:194450 yeast factor skos:exactMatch UMLS:C1860230 semapv:UnspecifiedMatching +OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:910 semapv:UnspecifiedMatching +OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:AZGP1 semapv:UnspecifiedMatching +OMIM:194460 AZGP1 skos:exactMatch ncbigene:563 semapv:UnspecifiedMatching +OMIM:194470 zinc, elevated plasma skos:exactMatch MONDO:0008691 semapv:UnspecifiedMatching +OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:12861 semapv:UnspecifiedMatching +OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:ZFP3 semapv:UnspecifiedMatching +OMIM:194480 ZFP3 skos:exactMatch ncbigene:124961 semapv:UnspecifiedMatching +OMIM:194490 zinc finger protein 1 skos:exactMatch UMLS:C1421587 semapv:UnspecifiedMatching +OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:12991 semapv:UnspecifiedMatching +OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:ZNF2 semapv:UnspecifiedMatching +OMIM:194500 ZNF2 skos:exactMatch ncbigene:7549 semapv:UnspecifiedMatching +OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:13089 semapv:UnspecifiedMatching +OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:ZNF3 semapv:UnspecifiedMatching +OMIM:194510 ZNF3 skos:exactMatch ncbigene:7551 semapv:UnspecifiedMatching +OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:13096 semapv:UnspecifiedMatching +OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:ZNF33A semapv:UnspecifiedMatching +OMIM:194521 ZNF33A skos:exactMatch ncbigene:7581 semapv:UnspecifiedMatching +OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:13097 semapv:UnspecifiedMatching +OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:ZNF33B semapv:UnspecifiedMatching +OMIM:194522 ZNF33B skos:exactMatch ncbigene:7582 semapv:UnspecifiedMatching +OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:12969 semapv:UnspecifiedMatching +OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:ZNF18 semapv:UnspecifiedMatching +OMIM:194524 ZNF18 skos:exactMatch ncbigene:7566 semapv:UnspecifiedMatching +OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:12981 semapv:UnspecifiedMatching +OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:ZNF19 semapv:UnspecifiedMatching +OMIM:194525 ZNF19 skos:exactMatch ncbigene:7567 semapv:UnspecifiedMatching +OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:13098 semapv:UnspecifiedMatching +OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:ZNF34 semapv:UnspecifiedMatching +OMIM:194526 ZNF34 skos:exactMatch ncbigene:80778 semapv:UnspecifiedMatching +OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:13023 semapv:UnspecifiedMatching +OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:ZNF23 semapv:UnspecifiedMatching +OMIM:194527 ZNF23 skos:exactMatch ncbigene:7571 semapv:UnspecifiedMatching +OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:13043 semapv:UnspecifiedMatching +OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:ZNF25 semapv:UnspecifiedMatching +OMIM:194528 ZNF25 skos:exactMatch ncbigene:219749 semapv:UnspecifiedMatching +OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:13012 semapv:UnspecifiedMatching +OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:ZNF22 semapv:UnspecifiedMatching +OMIM:194529 ZNF22 skos:exactMatch ncbigene:7570 semapv:UnspecifiedMatching +OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:13139 semapv:UnspecifiedMatching +OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:ZNF7 semapv:UnspecifiedMatching +OMIM:194531 ZNF7 skos:exactMatch ncbigene:7553 semapv:UnspecifiedMatching +OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:13154 semapv:UnspecifiedMatching +OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:ZNF8 semapv:UnspecifiedMatching +OMIM:194532 ZNF8 skos:exactMatch ncbigene:7554 semapv:UnspecifiedMatching +OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:13099 semapv:UnspecifiedMatching +OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:ZNF35 semapv:UnspecifiedMatching +OMIM:194533 ZNF35 skos:exactMatch ncbigene:7584 semapv:UnspecifiedMatching +OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:13032 semapv:UnspecifiedMatching +OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:ZNF24 semapv:UnspecifiedMatching +OMIM:194534 ZNF24 skos:exactMatch ncbigene:7572 semapv:UnspecifiedMatching +OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:13080 semapv:UnspecifiedMatching +OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:ZNF29P semapv:UnspecifiedMatching +OMIM:194535 ZNF29P skos:exactMatch ncbigene:7577 semapv:UnspecifiedMatching +OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:12902 semapv:UnspecifiedMatching +OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:ZNF12 semapv:UnspecifiedMatching +OMIM:194536 ZNF12 skos:exactMatch ncbigene:7559 semapv:UnspecifiedMatching +OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:13053 semapv:UnspecifiedMatching +OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:ZNF26 semapv:UnspecifiedMatching +OMIM:194537 ZNF26 skos:exactMatch ncbigene:7574 semapv:UnspecifiedMatching +OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:12879 semapv:UnspecifiedMatching +OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:ZNF10 semapv:UnspecifiedMatching +OMIM:194538 ZNF10 skos:exactMatch ncbigene:7556 semapv:UnspecifiedMatching +OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:13095 semapv:UnspecifiedMatching +OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:ZNF32 semapv:UnspecifiedMatching +OMIM:194539 ZNF32 skos:exactMatch ncbigene:7580 semapv:UnspecifiedMatching +OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:4920 semapv:UnspecifiedMatching +OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:HIVEP1 semapv:UnspecifiedMatching +OMIM:194540 HIVEP1 skos:exactMatch ncbigene:3096 semapv:UnspecifiedMatching +OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:13112 semapv:UnspecifiedMatching +OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:ZBTB25 semapv:UnspecifiedMatching +OMIM:194541 ZBTB25 skos:exactMatch ncbigene:7597 semapv:UnspecifiedMatching +OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:13110 semapv:UnspecifiedMatching +OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:ZNF44 semapv:UnspecifiedMatching +OMIM:194542 ZNF44 skos:exactMatch ncbigene:51710 semapv:UnspecifiedMatching +OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:13138 semapv:UnspecifiedMatching +OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:ZNF69 semapv:UnspecifiedMatching +OMIM:194543 ZNF69 skos:exactMatch ncbigene:7620 semapv:UnspecifiedMatching +OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:13140 semapv:UnspecifiedMatching +OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:ZNF70 semapv:UnspecifiedMatching +OMIM:194544 ZNF70 skos:exactMatch ncbigene:7621 semapv:UnspecifiedMatching +OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:13141 semapv:UnspecifiedMatching +OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:ZNF71 semapv:UnspecifiedMatching +OMIM:194545 ZNF71 skos:exactMatch ncbigene:58491 semapv:UnspecifiedMatching +OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:13142 semapv:UnspecifiedMatching +OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:ZNF72P semapv:UnspecifiedMatching +OMIM:194546 ZNF72 skos:exactMatch ncbigene:100287084 semapv:UnspecifiedMatching +OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:13143 semapv:UnspecifiedMatching +OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:ZNF73P semapv:UnspecifiedMatching +OMIM:194547 ZNF73 skos:exactMatch ncbigene:105379427 semapv:UnspecifiedMatching +OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:13144 semapv:UnspecifiedMatching +OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:ZNF74 semapv:UnspecifiedMatching +OMIM:194548 ZNF74 skos:exactMatch ncbigene:7625 semapv:UnspecifiedMatching +OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:13149 semapv:UnspecifiedMatching +OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:ZNF76 semapv:UnspecifiedMatching +OMIM:194549 ZNF76 skos:exactMatch ncbigene:7629 semapv:UnspecifiedMatching +OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:13108 semapv:UnspecifiedMatching +OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:MZF1 semapv:UnspecifiedMatching +OMIM:194550 MZF1 skos:exactMatch ncbigene:7593 semapv:UnspecifiedMatching +OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:13150 semapv:UnspecifiedMatching +OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:ZNF77 semapv:UnspecifiedMatching +OMIM:194551 ZNF77 skos:exactMatch ncbigene:58492 semapv:UnspecifiedMatching +OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:13153 semapv:UnspecifiedMatching +OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:ZNF79 semapv:UnspecifiedMatching +OMIM:194552 ZNF79 skos:exactMatch ncbigene:7633 semapv:UnspecifiedMatching +OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:13155 semapv:UnspecifiedMatching +OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:ZNF80 semapv:UnspecifiedMatching +OMIM:194553 ZNF80 skos:exactMatch ncbigene:7634 semapv:UnspecifiedMatching +OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:13111 semapv:UnspecifiedMatching +OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:ZNF45 semapv:UnspecifiedMatching +OMIM:194554 ZNF45 skos:exactMatch ncbigene:7596 semapv:UnspecifiedMatching +OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:13017 semapv:UnspecifiedMatching +OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:ZNF224 semapv:UnspecifiedMatching +OMIM:194555 ZNF224 skos:exactMatch ncbigene:7767 semapv:UnspecifiedMatching +OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:12924 semapv:UnspecifiedMatching +OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:ZNF14 semapv:UnspecifiedMatching +OMIM:194556 ZNF14 skos:exactMatch ncbigene:7561 semapv:UnspecifiedMatching +OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:12992 semapv:UnspecifiedMatching +OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:ZNF20 semapv:UnspecifiedMatching +OMIM:194557 ZNF20 skos:exactMatch ncbigene:7568 semapv:UnspecifiedMatching +OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:13158 semapv:UnspecifiedMatching +OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:ZNF83 semapv:UnspecifiedMatching +OMIM:194558 ZNF83 skos:exactMatch ncbigene:55769 semapv:UnspecifiedMatching +OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:12897 semapv:UnspecifiedMatching +OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:ZNF117 semapv:UnspecifiedMatching +OMIM:194624 ZNF117 skos:exactMatch ncbigene:51351 semapv:UnspecifiedMatching +OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:12904 semapv:UnspecifiedMatching +OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:ZNF121 semapv:UnspecifiedMatching +OMIM:194628 ZNF121 skos:exactMatch ncbigene:7675 semapv:UnspecifiedMatching +OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:12906 semapv:UnspecifiedMatching +OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:ZNF123P semapv:UnspecifiedMatching +OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:12907 semapv:UnspecifiedMatching +OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:ZNF124 semapv:UnspecifiedMatching +OMIM:194631 ZNF124 skos:exactMatch ncbigene:7678 semapv:UnspecifiedMatching +OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:12926 semapv:UnspecifiedMatching +OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:ZNF141 semapv:UnspecifiedMatching +OMIM:194648 ZNF141 skos:exactMatch ncbigene:7700 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch UMLS:C1421864 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:13187 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:ZP1 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch ncbigene:22917 semapv:UnspecifiedMatching +OMIM:200100 abetalipoproteinemia skos:exactMatch MONDO:0008692 semapv:UnspecifiedMatching +OMIM:200110 ablepharon-macrostomia syndrome skos:exactMatch MONDO:0008693 semapv:UnspecifiedMatching +OMIM:200130 absent eyebrows and eyelashes with mental retardation skos:exactMatch MONDO:0008694 semapv:UnspecifiedMatching +OMIM:200150 choreoacanthocytosis skos:exactMatch MONDO:0008695 semapv:UnspecifiedMatching +OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement skos:exactMatch MONDO:0008696 semapv:UnspecifiedMatching +OMIM:200300 acetophenetidin sensitivity skos:exactMatch MONDO:0008697 semapv:UnspecifiedMatching +OMIM:200350 ACACA skos:exactMatch hgnc.symbol:84 semapv:UnspecifiedMatching +OMIM:200350 ACACA skos:exactMatch hgnc.symbol:ACACA semapv:UnspecifiedMatching +OMIM:200350 ACACA skos:exactMatch ncbigene:31 semapv:UnspecifiedMatching +OMIM:200400 achalasia, familial esophageal skos:exactMatch MONDO:0100457 semapv:UnspecifiedMatching +OMIM:200450 achalasia-microcephaly syndrome skos:exactMatch MONDO:0008699 semapv:UnspecifiedMatching +OMIM:200500 acheiropody skos:exactMatch MONDO:0008700 semapv:UnspecifiedMatching +OMIM:200600 achondrogenesis, iia 1a skos:exactMatch MONDO:0008701 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch MONDO:0008702 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:932 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching +OMIM:200700 acromesomelic dysplasia 2a skos:exactMatch MONDO:0008703 semapv:UnspecifiedMatching +OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch MONDO:0008704 semapv:UnspecifiedMatching +OMIM:200950 acid phosphatase deficiency skos:exactMatch MONDO:0008705 semapv:UnspecifiedMatching +OMIM:200970 ackerman syndrome skos:exactMatch MONDO:0008706 semapv:UnspecifiedMatching +OMIM:200980 acrorenal-mandibular syndrome skos:exactMatch MONDO:0008707 semapv:UnspecifiedMatching +OMIM:200990 acrocallosal syndrome skos:exactMatch MONDO:0008708 semapv:UnspecifiedMatching +OMIM:200995 acrocephalopolydactylous dysplasia skos:exactMatch MONDO:0008709 semapv:UnspecifiedMatching +OMIM:201000 carpenter syndrome 1 skos:exactMatch MONDO:0008710 semapv:UnspecifiedMatching +OMIM:201020 acrocephalopolysyndactyly iia 4 skos:exactMatch MONDO:0008711 semapv:UnspecifiedMatching +OMIM:201050 acrocraniofacial dysostosis skos:exactMatch MONDO:0008712 semapv:UnspecifiedMatching +OMIM:201100 acrodermatitis enteropathica, zinc-deficiency iia skos:exactMatch MONDO:0008713 semapv:UnspecifiedMatching +OMIM:201170 acrofacial dysostosis syndrome of rodriguez skos:exactMatch MONDO:0008714 semapv:UnspecifiedMatching +OMIM:201180 acrofrontofacionasal dysostosis 1 skos:exactMatch MONDO:0100044 semapv:UnspecifiedMatching +OMIM:201200 acrogeria, gottron iia skos:exactMatch MONDO:0008716 semapv:UnspecifiedMatching +OMIM:201250 acromesomelic dysplasia 2c skos:exactMatch MONDO:0008717 semapv:UnspecifiedMatching +OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a skos:exactMatch MONDO:0024309 semapv:UnspecifiedMatching +OMIM:201310 acrorenal syndrome, autosomal recessive skos:exactMatch MONDO:0008719 semapv:UnspecifiedMatching +OMIM:201400 acth deficiency, isolated skos:exactMatch MONDO:0008720 semapv:UnspecifiedMatching +OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of skos:exactMatch MONDO:0008721 semapv:UnspecifiedMatching +OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of skos:exactMatch MONDO:0008722 semapv:UnspecifiedMatching +OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of skos:exactMatch MONDO:0008723 semapv:UnspecifiedMatching +OMIM:201550 adducted thumbs syndrome skos:exactMatch MONDO:0008724 semapv:UnspecifiedMatching +OMIM:201710 lipoid congenital adrenal hyperplasia skos:exactMatch MONDO:0008725 semapv:UnspecifiedMatching +OMIM:201750 antley-bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch MONDO:0008726 semapv:UnspecifiedMatching +OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency skos:exactMatch MONDO:0008727 semapv:UnspecifiedMatching +OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch MONDO:0008728 semapv:UnspecifiedMatching +OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:418 semapv:UnspecifiedMatching +OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 semapv:UnspecifiedMatching +OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch UMLS:C2936858 semapv:UnspecifiedMatching +OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency skos:exactMatch MONDO:0008729 semapv:UnspecifiedMatching +OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 semapv:UnspecifiedMatching +OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone skos:exactMatch MONDO:0008731 semapv:UnspecifiedMatching +OMIM:202155 adrenal hypoplasia, cytomegalic iia skos:exactMatch MONDO:0008732 semapv:UnspecifiedMatching +OMIM:202200 glucocorticoid deficiency 1 skos:exactMatch MONDO:0024536 semapv:UnspecifiedMatching +OMIM:202300 adrenocortical carcinoma, hereditary skos:exactMatch MONDO:0008734 semapv:UnspecifiedMatching +OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect skos:exactMatch MONDO:0008735 semapv:UnspecifiedMatching +OMIM:202370 peroxisome biogenesis disorder 2b skos:exactMatch MONDO:0008736 semapv:UnspecifiedMatching +OMIM:202400 afibrinogenemia, congenital skos:exactMatch MONDO:0008737 semapv:UnspecifiedMatching +OMIM:202550 aganglionosis, total intestinal skos:exactMatch MONDO:0008738 semapv:UnspecifiedMatching +OMIM:202600 agenesis of cerebral white matter skos:exactMatch MONDO:0008739 semapv:UnspecifiedMatching +OMIM:202650 agnathia-otocephaly complex skos:exactMatch MONDO:0008740 semapv:UnspecifiedMatching +OMIM:202660 pagod syndrome skos:exactMatch MONDO:0008741 semapv:UnspecifiedMatching +OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch MONDO:0042490 semapv:UnspecifiedMatching +OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching +OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch UMLS:C1859966 semapv:UnspecifiedMatching +OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus skos:exactMatch MONDO:0008743 semapv:UnspecifiedMatching +OMIM:203000 frontonasal dysplasia with alar clefts skos:exactMatch MONDO:0008744 semapv:UnspecifiedMatching +OMIM:203100 albinism, oculocutaneous, iia 1a skos:exactMatch MONDO:0008745 semapv:UnspecifiedMatching +OMIM:203200 albinism, oculocutaneous, iia 2 skos:exactMatch MONDO:0008746 semapv:UnspecifiedMatching +OMIM:203290 albinism, oculocutaneous, iia 3 skos:exactMatch MONDO:0008747 semapv:UnspecifiedMatching +OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch MONDO:0008748 semapv:UnspecifiedMatching +OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching +OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching +OMIM:203330 pseudohypoparathyroidism, iia 2 skos:exactMatch MONDO:0008749 semapv:UnspecifiedMatching +OMIM:203340 albinism-microcephaly-digital anomalies syndrome skos:exactMatch MONDO:0008750 semapv:UnspecifiedMatching +OMIM:203400 corticosterone methyloxidase iia 1 deficiency skos:exactMatch MONDO:0008751 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch MONDO:0008752 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:363717 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch UMLS:C0270726 semapv:UnspecifiedMatching +OMIM:203500 alkaptonuria skos:exactMatch MONDO:0008753 semapv:UnspecifiedMatching +OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome skos:exactMatch MONDO:0008754 semapv:UnspecifiedMatching +OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan skos:exactMatch MONDO:0008755 semapv:UnspecifiedMatching +OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch MONDO:0021035 semapv:UnspecifiedMatching +OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching +OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C1859878 semapv:UnspecifiedMatching +OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C4551986 semapv:UnspecifiedMatching +OMIM:203655 alopecia universalis congenita skos:exactMatch MONDO:0008757 semapv:UnspecifiedMatching +OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) skos:exactMatch MONDO:0008758 semapv:UnspecifiedMatching +OMIM:203740 oxoglutarate dehydrogenase deficiency skos:exactMatch MONDO:0008759 semapv:UnspecifiedMatching +OMIM:203750 alpha-methylacetoacetic aciduria skos:exactMatch MONDO:0008760 semapv:UnspecifiedMatching +OMIM:203760 alpha-2-deficient collagen disease skos:exactMatch MONDO:0008761 semapv:UnspecifiedMatching +OMIM:203780 alport syndrome 2, autosomal recessive skos:exactMatch MONDO:0008762 semapv:UnspecifiedMatching +OMIM:203800 alstrom syndrome skos:exactMatch MONDO:0008763 semapv:UnspecifiedMatching +OMIM:204000 leber congenital amaurosis 1 skos:exactMatch MONDO:0008764 semapv:UnspecifiedMatching +OMIM:204100 leber congenital amaurosis 2 skos:exactMatch MONDO:0008765 semapv:UnspecifiedMatching +OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis skos:exactMatch MONDO:0008766 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch MONDO:0008767 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:228346 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch MONDO:0008768 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:228340 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching +OMIM:204500 ceroid lipofuscinosis, neuronal, 2 skos:exactMatch MONDO:0008769 semapv:UnspecifiedMatching +OMIM:204650 amelogenesis imperfecta, iia 1c skos:exactMatch MONDO:0008770 semapv:UnspecifiedMatching +OMIM:204690 amelogenesis imperfecta, iia 1g skos:exactMatch MONDO:0008771 semapv:UnspecifiedMatching +OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 skos:exactMatch MONDO:0008772 semapv:UnspecifiedMatching +OMIM:204730 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch MONDO:0008773 semapv:UnspecifiedMatching +OMIM:204750 alpha-aminoadipic and alpha-ketoadipic aciduria skos:exactMatch MONDO:0008774 semapv:UnspecifiedMatching +OMIM:204800 amobarbital, deficient n-hydroxylation of skos:exactMatch MONDO:0008775 semapv:UnspecifiedMatching +OMIM:204850 amyloidosis of gingiva and conjunctiva with impaired intellectual development skos:exactMatch MONDO:0008776 semapv:UnspecifiedMatching +OMIM:204870 corneal dystrophy, gelatinous drop-like skos:exactMatch MONDO:0008777 semapv:UnspecifiedMatching +OMIM:204900 amyloidosis, cutaneous bullous skos:exactMatch MONDO:0008778 semapv:UnspecifiedMatching +OMIM:205000 amyotonia congenita skos:exactMatch MONDO:0056822 semapv:UnspecifiedMatching +OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch MONDO:0008780 semapv:UnspecifiedMatching +OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching +OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching +OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia skos:exactMatch MONDO:0008781 semapv:UnspecifiedMatching +OMIM:205250 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch MONDO:0008782 semapv:UnspecifiedMatching +OMIM:205400 tangier disease skos:exactMatch MONDO:0008783 semapv:UnspecifiedMatching +OMIM:205700 anemia, autoimmune hemolytic skos:exactMatch MONDO:0020108 semapv:UnspecifiedMatching +OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory skos:exactMatch MONDO:0008785 semapv:UnspecifiedMatching +OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive skos:exactMatch MONDO:0008786 semapv:UnspecifiedMatching +OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 skos:exactMatch MONDO:0008787 semapv:UnspecifiedMatching +OMIM:206200 iron-refractory iron deficiency anemia skos:exactMatch MONDO:0008788 semapv:UnspecifiedMatching +OMIM:206300 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch MONDO:0008789 semapv:UnspecifiedMatching +OMIM:206400 anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism skos:exactMatch MONDO:0008790 semapv:UnspecifiedMatching +OMIM:206500 anencephaly 1 skos:exactMatch MONDO:0008791 semapv:UnspecifiedMatching +OMIM:206550 angiolipomatosis, familial skos:exactMatch MONDO:0008792 semapv:UnspecifiedMatching +OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert skos:exactMatch MONDO:0008793 semapv:UnspecifiedMatching +OMIM:206600 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch MONDO:0008794 semapv:UnspecifiedMatching +OMIM:206700 gillespie syndrome skos:exactMatch MONDO:0008795 semapv:UnspecifiedMatching +OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation skos:exactMatch MONDO:0008796 semapv:UnspecifiedMatching +OMIM:206780 anodontia of permanent dentition skos:exactMatch MONDO:0008797 semapv:UnspecifiedMatching +OMIM:206800 nail disorder, nonsyndromic congenital, 4 skos:exactMatch MONDO:0008798 semapv:UnspecifiedMatching +OMIM:206900 microphthalmia, syndromic 3 skos:exactMatch MONDO:0008799 semapv:UnspecifiedMatching +OMIM:206920 microphthalmia with limb anomalies skos:exactMatch MONDO:0008800 semapv:UnspecifiedMatching +OMIM:207000 anosmia for isobutyric acid skos:exactMatch MONDO:0008801 semapv:UnspecifiedMatching +OMIM:207300 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch MONDO:0008802 semapv:UnspecifiedMatching +OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch MONDO:0020667 semapv:UnspecifiedMatching +OMIM:207500 anus, imperforate skos:exactMatch MONDO:0001046 semapv:UnspecifiedMatching +OMIM:207600 takayasu arteritis skos:exactMatch MONDO:0017991 semapv:UnspecifiedMatching +OMIM:207620 aphalangy with hemivertebrae skos:exactMatch MONDO:0008806 semapv:UnspecifiedMatching +OMIM:207720 apnea, central sleep skos:exactMatch MONDO:0008807 semapv:UnspecifiedMatching +OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia skos:exactMatch MONDO:0008808 semapv:UnspecifiedMatching +OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy skos:exactMatch MONDO:0008809 semapv:UnspecifiedMatching +OMIM:207750 apolipoprotein c-ii deficiency skos:exactMatch MONDO:0008810 semapv:UnspecifiedMatching +OMIM:207770 aprosencephaly syndrome skos:exactMatch MONDO:0008811 semapv:UnspecifiedMatching +OMIM:207780 aredyld skos:exactMatch MONDO:0008812 semapv:UnspecifiedMatching +OMIM:207790 arachnoid cysts, intracranial skos:exactMatch MONDO:0100129 semapv:UnspecifiedMatching +OMIM:207800 argininemia skos:exactMatch MONDO:0008814 semapv:UnspecifiedMatching +OMIM:207800 argininemia skos:exactMatch Orphanet:90 semapv:UnspecifiedMatching +OMIM:207800 argininemia skos:exactMatch UMLS:C0268548 semapv:UnspecifiedMatching +OMIM:207900 argininosuccinic aciduria skos:exactMatch MONDO:0008815 semapv:UnspecifiedMatching +OMIM:207950 chiari malformation iia 2 skos:exactMatch MONDO:0008816 semapv:UnspecifiedMatching +OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch MONDO:0008817 semapv:UnspecifiedMatching +OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch Orphanet:51608 semapv:UnspecifiedMatching +OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C1859727 semapv:UnspecifiedMatching +OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching +OMIM:208050 arterial tortuosity syndrome skos:exactMatch MONDO:0008818 semapv:UnspecifiedMatching +OMIM:208050 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 semapv:UnspecifiedMatching +OMIM:208050 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching +OMIM:208060 arteriosclerosis, severe juvenile skos:exactMatch MONDO:0008819 semapv:UnspecifiedMatching +OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies skos:exactMatch MONDO:0008821 semapv:UnspecifiedMatching +OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies skos:exactMatch UMLS:C1859723 semapv:UnspecifiedMatching +OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch MONDO:0008822 semapv:UnspecifiedMatching +OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch MONDO:0008823 semapv:UnspecifiedMatching +OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch Orphanet:1143 semapv:UnspecifiedMatching +OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C1859721 semapv:UnspecifiedMatching +OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching +OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch MONDO:0100101 semapv:UnspecifiedMatching +OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching +OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch UMLS:C1276035 semapv:UnspecifiedMatching +OMIM:208155 illum syndrome skos:exactMatch MONDO:0008825 semapv:UnspecifiedMatching +OMIM:208158 arthrogryposis with hyperkeratosis skos:exactMatch MONDO:0008826 semapv:UnspecifiedMatching +OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch MONDO:0008827 semapv:UnspecifiedMatching +OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch Orphanet:1159 semapv:UnspecifiedMatching +OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch UMLS:C0432215 semapv:UnspecifiedMatching +OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch MONDO:0008828 semapv:UnspecifiedMatching +OMIM:208300 ascites, chylous skos:exactMatch MONDO:0008829 semapv:UnspecifiedMatching +OMIM:208400 aspartylglucosaminuria skos:exactMatch MONDO:0008830 semapv:UnspecifiedMatching +OMIM:208400 aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:UnspecifiedMatching +OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching +OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C2931840 semapv:UnspecifiedMatching +OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly skos:exactMatch MONDO:0008831 semapv:UnspecifiedMatching +OMIM:208530 right atrial isomerism skos:exactMatch MONDO:0008832 semapv:UnspecifiedMatching +OMIM:208530 right atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching +OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C0175707 semapv:UnspecifiedMatching +OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching +OMIM:208540 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch MONDO:0008833 semapv:UnspecifiedMatching +OMIM:208550 asthma, nasal polyps, and aspirin intolerance skos:exactMatch MONDO:0008834 semapv:UnspecifiedMatching +OMIM:208600 asthma, short stature, and elevated iga skos:exactMatch MONDO:0008835 semapv:UnspecifiedMatching +OMIM:208700 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch MONDO:0008836 semapv:UnspecifiedMatching +OMIM:208750 ataxia, deafness, and cardiomyopathy skos:exactMatch MONDO:0008837 semapv:UnspecifiedMatching +OMIM:208850 ataxia-deafness-retardation syndrome skos:exactMatch MONDO:0008838 semapv:UnspecifiedMatching +OMIM:208870 ataxia-microcephaly-cataract syndrome skos:exactMatch MONDO:0008839 semapv:UnspecifiedMatching +OMIM:208900 ataxia-telangiectasia skos:exactMatch MONDO:0008840 semapv:UnspecifiedMatching +OMIM:208900 ataxia-telangiectasia skos:exactMatch Orphanet:100 semapv:UnspecifiedMatching +OMIM:208900 ataxia-telangiectasia skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching +OMIM:208910 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch MONDO:0008841 semapv:UnspecifiedMatching +OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch MONDO:0008842 semapv:UnspecifiedMatching +OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease skos:exactMatch MONDO:0008843 semapv:UnspecifiedMatching +OMIM:209050 athrombia, essential skos:exactMatch MONDO:0008844 semapv:UnspecifiedMatching +OMIM:209100 atonic-astatic syndrome of foerster skos:exactMatch MONDO:0008845 semapv:UnspecifiedMatching +OMIM:209300 atransferrinemia skos:exactMatch MONDO:0008846 semapv:UnspecifiedMatching +OMIM:209500 atrichia with papular lesions skos:exactMatch MONDO:0008847 semapv:UnspecifiedMatching +OMIM:209600 atrioventricular dissociation skos:exactMatch MONDO:0008848 semapv:UnspecifiedMatching +OMIM:209700 atrophoderma vermiculata skos:exactMatch MONDO:0008849 semapv:UnspecifiedMatching +OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation skos:exactMatch MONDO:0008850 semapv:UnspecifiedMatching +OMIM:209800 australia antigen skos:exactMatch MONDO:0044251 semapv:UnspecifiedMatching +OMIM:209850 autism skos:exactMatch MONDO:0005260 semapv:UnspecifiedMatching +OMIM:209850 autism skos:exactMatch UMLS:C0004352 semapv:UnspecifiedMatching +OMIM:209850 autism skos:exactMatch UMLS:C1510586 semapv:UnspecifiedMatching +OMIM:209850 autism skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch MONDO:0800026 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching +OMIM:209885 barber-say syndrome skos:exactMatch MONDO:0008853 semapv:UnspecifiedMatching +OMIM:209900 bardet-biedl syndrome 1 skos:exactMatch MONDO:0008854 semapv:UnspecifiedMatching +OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:966 semapv:UnspecifiedMatching +OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:BBS1 semapv:UnspecifiedMatching +OMIM:209901 BBS1 skos:exactMatch ncbigene:582 semapv:UnspecifiedMatching +OMIM:209920 bare lymphocyte syndrome, iia 2 skos:exactMatch MONDO:0008855 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch MONDO:0008856 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:319569 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching +OMIM:209970 beemer lethal malformation syndrome skos:exactMatch MONDO:0008857 semapv:UnspecifiedMatching +OMIM:210000 behr syndrome skos:exactMatch MONDO:0008858 semapv:UnspecifiedMatching +OMIM:210000 behr syndrome skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching +OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch MONDO:0008859 semapv:UnspecifiedMatching +OMIM:210100 beta-aminoisobutyric aciduria skos:exactMatch MONDO:0008860 semapv:UnspecifiedMatching +OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency skos:exactMatch MONDO:0008861 semapv:UnspecifiedMatching +OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency skos:exactMatch MONDO:0008862 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch MONDO:0020747 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:101022 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching +OMIM:210350 biemond syndrome 2 skos:exactMatch MONDO:0008864 semapv:UnspecifiedMatching +OMIM:210370 bietti crystalline corneoretinal dystrophy skos:exactMatch MONDO:0008865 semapv:UnspecifiedMatching +OMIM:210400 bifid nose, autosomal recessive skos:exactMatch MONDO:0008866 semapv:UnspecifiedMatching +OMIM:210500 biliary atresia, extrahepatic skos:exactMatch MONDO:0100285 semapv:UnspecifiedMatching +OMIM:210550 biliary malformation with renal tubular insufficiency skos:exactMatch MONDO:0008868 semapv:UnspecifiedMatching +OMIM:210600 seckel syndrome 1 skos:exactMatch MONDO:0008869 semapv:UnspecifiedMatching +OMIM:210600 seckel syndrome 1 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching +OMIM:210600 seckel syndrome 1 skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching +OMIM:210700 microcephalic primordial dwarfism, montreal iia skos:exactMatch MONDO:0008870 semapv:UnspecifiedMatching +OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch MONDO:0008871 semapv:UnspecifiedMatching +OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch Orphanet:2636 semapv:UnspecifiedMatching +OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching +OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 skos:exactMatch MONDO:0008872 semapv:UnspecifiedMatching +OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 skos:exactMatch MONDO:0008873 semapv:UnspecifiedMatching +OMIM:210740 bangstad syndrome skos:exactMatch MONDO:0008874 semapv:UnspecifiedMatching +OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature skos:exactMatch MONDO:0008875 semapv:UnspecifiedMatching +OMIM:210750 skin/hair/eye pigmentation, variation in, 6 skos:exactMatch MONDO:0044252 semapv:UnspecifiedMatching +OMIM:210900 bloom syndrome skos:exactMatch MONDO:0008876 semapv:UnspecifiedMatching +OMIM:211000 blue diaper syndrome skos:exactMatch MONDO:0008877 semapv:UnspecifiedMatching +OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:4012 semapv:UnspecifiedMatching +OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:FUT1 semapv:UnspecifiedMatching +OMIM:211100 FUT1 skos:exactMatch ncbigene:2523 semapv:UnspecifiedMatching +OMIM:211120 bone dysplasia, lethal, holmgren iia skos:exactMatch MONDO:0008878 semapv:UnspecifiedMatching +OMIM:211180 bowen-conradi syndrome skos:exactMatch MONDO:0008879 semapv:UnspecifiedMatching +OMIM:211200 bowen syndrome of multiple malformations skos:exactMatch MONDO:0008880 semapv:UnspecifiedMatching +OMIM:211350 kyphomelic dysplasia skos:exactMatch MONDO:0008881 semapv:UnspecifiedMatching +OMIM:211355 bowing of long bones, asymmetric and symmetric skos:exactMatch MONDO:0008882 semapv:UnspecifiedMatching +OMIM:211369 brachydactyly, iia a2, with microcephaly skos:exactMatch MONDO:0008883 semapv:UnspecifiedMatching +OMIM:211370 brachymetapody-anodontia-hypotrichosis-albinoidism skos:exactMatch MONDO:0008884 semapv:UnspecifiedMatching +OMIM:211380 elsahy-waters syndrome skos:exactMatch MONDO:0008885 semapv:UnspecifiedMatching +OMIM:211390 sabinas brittle hair syndrome skos:exactMatch MONDO:0008886 semapv:UnspecifiedMatching +OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch MONDO:0008887 semapv:UnspecifiedMatching +OMIM:211450 williams-campbell syndrome skos:exactMatch MONDO:0008888 semapv:UnspecifiedMatching +OMIM:211480 buerger disease skos:exactMatch MONDO:0008889 semapv:UnspecifiedMatching +OMIM:211500 fazio-londe disease skos:exactMatch MONDO:0100428 semapv:UnspecifiedMatching +OMIM:211530 brown-vialetto-van laere syndrome 1 skos:exactMatch MONDO:0024537 semapv:UnspecifiedMatching +OMIM:211600 cholestasis, progressive familial intrahepatic, 1 skos:exactMatch MONDO:0008892 semapv:UnspecifiedMatching +OMIM:211750 c syndrome skos:exactMatch MONDO:0008893 semapv:UnspecifiedMatching +OMIM:211770 cahmr syndrome skos:exactMatch MONDO:0008894 semapv:UnspecifiedMatching +OMIM:211800 calcification of joints and arteries skos:exactMatch MONDO:0008895 semapv:UnspecifiedMatching +OMIM:211890 campomelia, cumming iia skos:exactMatch MONDO:0008896 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch MONDO:0100252 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C1876187 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C4692564 semapv:UnspecifiedMatching +OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch MONDO:0008898 semapv:UnspecifiedMatching +OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching +OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch UMLS:C1859359 semapv:UnspecifiedMatching +OMIM:211920 camptodactyly syndrome, guadalajara, iia 2 skos:exactMatch MONDO:0008899 semapv:UnspecifiedMatching +OMIM:211930 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch MONDO:0008900 semapv:UnspecifiedMatching +OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases skos:exactMatch MONDO:0008901 semapv:UnspecifiedMatching +OMIM:211965 camptodactyly-ichthyosis syndrome skos:exactMatch MONDO:0008902 semapv:UnspecifiedMatching +OMIM:211980 lung cancer skos:exactMatch MONDO:0008903 semapv:UnspecifiedMatching +OMIM:211990 camptomelic syndrome, long-limb iia skos:exactMatch MONDO:0008904 semapv:UnspecifiedMatching +OMIM:212050 immunodeficiency 103, susceptibility to fungal infections skos:exactMatch MONDO:0008905 semapv:UnspecifiedMatching +OMIM:212060 carbimazole sensitivity skos:exactMatch MONDO:0008906 semapv:UnspecifiedMatching +OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch MONDO:0008907 semapv:UnspecifiedMatching +OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch Orphanet:79318 semapv:UnspecifiedMatching +OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching +OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch MONDO:0008908 semapv:UnspecifiedMatching +OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch Orphanet:79329 semapv:UnspecifiedMatching +OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch UMLS:C2931008 semapv:UnspecifiedMatching +OMIM:212067 congenital disorder of glycosylation, iia i/iix skos:exactMatch MONDO:0008909 semapv:UnspecifiedMatching +OMIM:212070 carboxypeptidase n deficiency skos:exactMatch MONDO:0008910 semapv:UnspecifiedMatching +OMIM:212080 cardiac lipidosis, familial skos:exactMatch MONDO:0008911 semapv:UnspecifiedMatching +OMIM:212090 cardiac septal defects with coarctation of the aorta skos:exactMatch MONDO:0008912 semapv:UnspecifiedMatching +OMIM:212093 cardiac valvular dysplasia 1 skos:exactMatch MONDO:0008913 semapv:UnspecifiedMatching +OMIM:212100 cardioauditory syndrome of sanchez cascos skos:exactMatch MONDO:0008914 semapv:UnspecifiedMatching +OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism skos:exactMatch MONDO:0008915 semapv:UnspecifiedMatching +OMIM:212130 cardiomyopathy associated with myopathy and sudden death skos:exactMatch MONDO:0008916 semapv:UnspecifiedMatching +OMIM:212135 cardioskeletal syndrome, kuwaiti iia skos:exactMatch MONDO:0008917 semapv:UnspecifiedMatching +OMIM:212138 carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 semapv:UnspecifiedMatching +OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch MONDO:0008919 semapv:UnspecifiedMatching +OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch Orphanet:158 semapv:UnspecifiedMatching +OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching +OMIM:212160 carnitine deficiency, myopathic skos:exactMatch MONDO:0008920 semapv:UnspecifiedMatching +OMIM:212200 carnosinemia skos:exactMatch MONDO:0008921 semapv:UnspecifiedMatching +OMIM:212350 sengers syndrome skos:exactMatch MONDO:0008922 semapv:UnspecifiedMatching +OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 skos:exactMatch MONDO:0008923 semapv:UnspecifiedMatching +OMIM:212400 cataract and congenital ichthyosis skos:exactMatch MONDO:0008924 semapv:UnspecifiedMatching +OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch MONDO:0008925 semapv:UnspecifiedMatching +OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching +OMIM:212540 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome skos:exactMatch MONDO:0020742 semapv:UnspecifiedMatching +OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy skos:exactMatch MONDO:0008927 semapv:UnspecifiedMatching +OMIM:212710 cataract-ataxia-deafness-retardation syndrome skos:exactMatch MONDO:0008928 semapv:UnspecifiedMatching +OMIM:212720 martsolf syndrome 1 skos:exactMatch MONDO:8000008 semapv:UnspecifiedMatching +OMIM:212750 celiac disease, susceptibility to, 1 skos:exactMatch MONDO:0008930 semapv:UnspecifiedMatching +OMIM:212750 celiac disease, susceptibility to, 1 skos:exactMatch UMLS:C1859310 semapv:UnspecifiedMatching +OMIM:212780 cenani-lenz syndactyly syndrome skos:exactMatch MONDO:0008931 semapv:UnspecifiedMatching +OMIM:212790 premature centromere division skos:exactMatch MONDO:0008932 semapv:UnspecifiedMatching +OMIM:212800 cephalin lipidosis skos:exactMatch MONDO:0008933 semapv:UnspecifiedMatching +OMIM:212835 cerebellar ataxia and ectodermal dysplasia skos:exactMatch MONDO:0008934 semapv:UnspecifiedMatching +OMIM:212840 gordon holmes syndrome skos:exactMatch MONDO:0008935 semapv:UnspecifiedMatching +OMIM:212850 cerebellar ataxia and neurosensory deafness skos:exactMatch MONDO:0008936 semapv:UnspecifiedMatching +OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch MONDO:0008937 semapv:UnspecifiedMatching +OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes skos:exactMatch MONDO:0008938 semapv:UnspecifiedMatching +OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch MONDO:0008939 semapv:UnspecifiedMatching +OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch Orphanet:2246 semapv:UnspecifiedMatching +OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching +OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome skos:exactMatch MONDO:0008941 semapv:UnspecifiedMatching +OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 skos:exactMatch MONDO:0008943 semapv:UnspecifiedMatching +OMIM:213300 joubert syndrome 1 skos:exactMatch MONDO:0008944 semapv:UnspecifiedMatching +OMIM:213300 joubert syndrome 1 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C0431399 semapv:UnspecifiedMatching +OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C4551568 semapv:UnspecifiedMatching +OMIM:213400 dyssynergia cerebellaris myoclonica of hunt skos:exactMatch MONDO:0008945 semapv:UnspecifiedMatching +OMIM:213500 cerebral angiopathy, dysphoric skos:exactMatch MONDO:0008946 semapv:UnspecifiedMatching +OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch MONDO:0024538 semapv:UnspecifiedMatching +OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching +OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch UMLS:C4551624 semapv:UnspecifiedMatching +OMIM:213700 cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 semapv:UnspecifiedMatching +OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch MONDO:0008949 semapv:UnspecifiedMatching +OMIM:213900 cerebral sclerosis similar to pelizaeus-merzbacher disease skos:exactMatch MONDO:0008950 semapv:UnspecifiedMatching +OMIM:213950 cerebrocortical degeneration of infancy skos:exactMatch MONDO:0008951 semapv:UnspecifiedMatching +OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch MONDO:0800436 semapv:UnspecifiedMatching +OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch Orphanet:1394 semapv:UnspecifiedMatching +OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching +OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) skos:exactMatch MONDO:0008953 semapv:UnspecifiedMatching +OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) skos:exactMatch MONDO:0008954 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch MONDO:0008955 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching +OMIM:214290 cervical vertebrae, agenesis of skos:exactMatch MONDO:0008957 semapv:UnspecifiedMatching +OMIM:214300 klippel-feil syndrome 2, autosomal recessive skos:exactMatch MONDO:0008958 semapv:UnspecifiedMatching +OMIM:214350 chand syndrome skos:exactMatch MONDO:0008959 semapv:UnspecifiedMatching +OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers skos:exactMatch MONDO:0008960 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch MONDO:0008961 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching +OMIM:214450 griscelli syndrome, iia 1 skos:exactMatch MONDO:0008962 semapv:UnspecifiedMatching +OMIM:214500 chediak-higashi syndrome skos:exactMatch MONDO:0008963 semapv:UnspecifiedMatching +OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch MONDO:0008964 semapv:UnspecifiedMatching +OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching +OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching +OMIM:214800 charge syndrome skos:exactMatch MONDO:0008965 semapv:UnspecifiedMatching +OMIM:214900 cholestasis-lymphedema syndrome skos:exactMatch MONDO:0008966 semapv:UnspecifiedMatching +OMIM:214950 bile acid synthesis defect, congenital, 4 skos:exactMatch MONDO:0008967 semapv:UnspecifiedMatching +OMIM:214980 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch MONDO:0008968 semapv:UnspecifiedMatching +OMIM:215030 cholesterol pneumonia skos:exactMatch MONDO:0008969 semapv:UnspecifiedMatching +OMIM:215045 chondrodysplasia, blomstrand iia skos:exactMatch MONDO:0008970 semapv:UnspecifiedMatching +OMIM:215050 chondrodysplasia calcificans metaphysealis skos:exactMatch MONDO:0008971 semapv:UnspecifiedMatching +OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 skos:exactMatch MONDO:0008972 semapv:UnspecifiedMatching +OMIM:215105 chondrodysplasia punctata syndrome skos:exactMatch MONDO:0008973 semapv:UnspecifiedMatching +OMIM:215140 greenberg dysplasia skos:exactMatch MONDO:0008974 semapv:UnspecifiedMatching +OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:exactMatch MONDO:0044206 semapv:UnspecifiedMatching +OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch MONDO:0008976 semapv:UnspecifiedMatching +OMIM:215300 chondrosarcoma skos:exactMatch MONDO:0008977 semapv:UnspecifiedMatching +OMIM:215300 chondrosarcoma skos:exactMatch Orphanet:55880 semapv:UnspecifiedMatching +OMIM:215300 chondrosarcoma skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching +OMIM:215400 chordoma, susceptibility to skos:exactMatch MONDO:0008978 semapv:UnspecifiedMatching +OMIM:215450 chorea, benign familial skos:exactMatch MONDO:0008979 semapv:UnspecifiedMatching +OMIM:215470 boucher-neuhauser syndrome skos:exactMatch MONDO:0008980 semapv:UnspecifiedMatching +OMIM:215480 choroid plexus calcification and mental retardation skos:exactMatch MONDO:0008981 semapv:UnspecifiedMatching +OMIM:215500 choroidal dystrophy, central areolar, 1 skos:exactMatch MONDO:0024539 semapv:UnspecifiedMatching +OMIM:215510 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch MONDO:0008983 semapv:UnspecifiedMatching +OMIM:215518 ciliary discoordination due to random ciliary orientation skos:exactMatch MONDO:0008984 semapv:UnspecifiedMatching +OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch MONDO:0008985 semapv:UnspecifiedMatching +OMIM:215550 circumvallate placenta syndrome skos:exactMatch MONDO:0008986 semapv:UnspecifiedMatching +OMIM:215600 cirrhosis, familial skos:exactMatch MONDO:0007329 semapv:UnspecifiedMatching +OMIM:215700 citrullinemia, classic skos:exactMatch MONDO:0008988 semapv:UnspecifiedMatching +OMIM:215720 citrulline transport defect skos:exactMatch MONDO:0008989 semapv:UnspecifiedMatching +OMIM:215800 cleft larynx, posterior skos:exactMatch MONDO:0008990 semapv:UnspecifiedMatching +OMIM:215850 cleft-limb-heart malformation syndrome skos:exactMatch MONDO:0008991 semapv:UnspecifiedMatching +OMIM:216100 juberg-hayward syndrome skos:exactMatch MONDO:0008992 semapv:UnspecifiedMatching +OMIM:216300 cleft palate, deafness, and oligodontia skos:exactMatch MONDO:0008993 semapv:UnspecifiedMatching +OMIM:216330 cleidocranial dysplasia, recessive form skos:exactMatch MONDO:0008994 semapv:UnspecifiedMatching +OMIM:216340 yunis-varon syndrome skos:exactMatch MONDO:0008995 semapv:UnspecifiedMatching +OMIM:216340 yunis-varon syndrome skos:exactMatch Orphanet:3472 semapv:UnspecifiedMatching +OMIM:216340 yunis-varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching +OMIM:216360 coach syndrome 1 skos:exactMatch MONDO:0800103 semapv:UnspecifiedMatching +OMIM:216360 coach syndrome 1 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching +OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C1857662 semapv:UnspecifiedMatching +OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching +OMIM:216400 Cockayne syndrome a skos:exactMatch MONDO:0019569 semapv:UnspecifiedMatching +OMIM:216550 cohen syndrome skos:exactMatch MONDO:0008999 semapv:UnspecifiedMatching +OMIM:216550 cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching +OMIM:216550 cohen syndrome skos:exactMatch UMLS:C0265223 semapv:UnspecifiedMatching +OMIM:216700 collagenosis, familial reactive perforating skos:exactMatch MONDO:0009000 semapv:UnspecifiedMatching +OMIM:216800 coloboma of macula and skeletal anomalies skos:exactMatch MONDO:0009001 semapv:UnspecifiedMatching +OMIM:216820 coloboma, ocular, autosomal recessive skos:exactMatch MONDO:0009002 semapv:UnspecifiedMatching +OMIM:216900 achromatopsia 2 skos:exactMatch MONDO:0009003 semapv:UnspecifiedMatching +OMIM:216950 complement component c1r/c1s deficiency skos:exactMatch MONDO:0009005 semapv:UnspecifiedMatching +OMIM:217000 complement component 2 deficiency skos:exactMatch MONDO:0009006 semapv:UnspecifiedMatching +OMIM:217030 CFI skos:exactMatch hgnc.symbol:5394 semapv:UnspecifiedMatching +OMIM:217030 CFI skos:exactMatch hgnc.symbol:CFI semapv:UnspecifiedMatching +OMIM:217030 CFI skos:exactMatch ncbigene:3426 semapv:UnspecifiedMatching +OMIM:217050 C6 skos:exactMatch hgnc.symbol:1339 semapv:UnspecifiedMatching +OMIM:217050 C6 skos:exactMatch hgnc.symbol:C6 semapv:UnspecifiedMatching +OMIM:217050 C6 skos:exactMatch ncbigene:729 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch UMLS:C1413019 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch UMLS:C4017564 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch hgnc.symbol:1346 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch hgnc.symbol:C7 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch ncbigene:730 semapv:UnspecifiedMatching +OMIM:217080 jalili syndrome skos:exactMatch MONDO:0009007 semapv:UnspecifiedMatching +OMIM:217080 jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching +OMIM:217080 jalili syndrome skos:exactMatch UMLS:C3495589 semapv:UnspecifiedMatching +OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch MONDO:0009008 semapv:UnspecifiedMatching +OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch Orphanet:1338 semapv:UnspecifiedMatching +OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching +OMIM:217090 plasminogen deficiency, iia 1 skos:exactMatch MONDO:0009009 semapv:UnspecifiedMatching +OMIM:217095 conotruncal heart malformations skos:exactMatch MONDO:0016581 semapv:UnspecifiedMatching +OMIM:217100 constricting bands, congenital skos:exactMatch MONDO:0015167 semapv:UnspecifiedMatching +OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia skos:exactMatch MONDO:0009012 semapv:UnspecifiedMatching +OMIM:217200 convulsive disorder, familial, with prenatal or early onset skos:exactMatch MONDO:0009013 semapv:UnspecifiedMatching +OMIM:217300 cornea plana 2, autosomal recessive skos:exactMatch MONDO:0009014 semapv:UnspecifiedMatching +OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch MONDO:0009015 semapv:UnspecifiedMatching +OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch Orphanet:1490 semapv:UnspecifiedMatching +OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch UMLS:C1857572 semapv:UnspecifiedMatching +OMIM:217500 corneal dystrophy, band-shaped skos:exactMatch MONDO:0009016 semapv:UnspecifiedMatching +OMIM:217520 corneal degeneration, band-shaped spheroid skos:exactMatch MONDO:0009017 semapv:UnspecifiedMatching +OMIM:217600 central cloudy dystrophy of francois skos:exactMatch MONDO:0009018 semapv:UnspecifiedMatching +OMIM:217700 corneal endothelial dystrophy skos:exactMatch MONDO:0009019 semapv:UnspecifiedMatching +OMIM:217800 macular dystrophy, corneal skos:exactMatch MONDO:0009020 semapv:UnspecifiedMatching +OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence skos:exactMatch MONDO:0009021 semapv:UnspecifiedMatching +OMIM:217990 corpus callosum, agenesis of skos:exactMatch MONDO:0009022 semapv:UnspecifiedMatching +OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch MONDO:0000902 semapv:UnspecifiedMatching +OMIM:218010 cortical blindness, retardation, and postaxial polydactyly skos:exactMatch MONDO:0009024 semapv:UnspecifiedMatching +OMIM:218030 apparent mineralocorticoid excess skos:exactMatch MONDO:0009025 semapv:UnspecifiedMatching +OMIM:218040 costello syndrome skos:exactMatch MONDO:0009026 semapv:UnspecifiedMatching +OMIM:218040 costello syndrome skos:exactMatch Orphanet:3071 semapv:UnspecifiedMatching +OMIM:218040 costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching +OMIM:218040 costello syndrome skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching +OMIM:218050 cramps, familial adolescent skos:exactMatch MONDO:0009027 semapv:UnspecifiedMatching +OMIM:218090 crane-heise syndrome skos:exactMatch MONDO:0009028 semapv:UnspecifiedMatching +OMIM:218100 cranial nerves, congenital paresis of skos:exactMatch MONDO:0009029 semapv:UnspecifiedMatching +OMIM:218200 cranial nerves, recurrent paresis of skos:exactMatch MONDO:0009030 semapv:UnspecifiedMatching +OMIM:218300 craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 semapv:UnspecifiedMatching +OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch MONDO:0021093 semapv:UnspecifiedMatching +OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching +OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching +OMIM:218340 temtamy syndrome skos:exactMatch MONDO:0009033 semapv:UnspecifiedMatching +OMIM:218350 craniofacial dyssynostosis with short stature skos:exactMatch MONDO:0009034 semapv:UnspecifiedMatching +OMIM:218400 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch MONDO:0009035 semapv:UnspecifiedMatching +OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis skos:exactMatch MONDO:0009036 semapv:UnspecifiedMatching +OMIM:218530 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch MONDO:0009037 semapv:UnspecifiedMatching +OMIM:218550 craniosynostosis with fibular aplasia skos:exactMatch MONDO:0009038 semapv:UnspecifiedMatching +OMIM:218600 baller-gerold syndrome skos:exactMatch MONDO:0009039 semapv:UnspecifiedMatching +OMIM:218649 craniosynostosis-mental retardation syndrome of 51n and gettig skos:exactMatch MONDO:0009040 semapv:UnspecifiedMatching +OMIM:218650 craniosynostosis-mental retardation-clefting syndrome skos:exactMatch MONDO:0009041 semapv:UnspecifiedMatching +OMIM:218670 craniotelencephalic dysplasia skos:exactMatch MONDO:0009042 semapv:UnspecifiedMatching +OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 skos:exactMatch MONDO:0024264 semapv:UnspecifiedMatching +OMIM:218800 crigler-najjar syndrome, iia 1 skos:exactMatch MONDO:0021020 semapv:UnspecifiedMatching +OMIM:218900 crome syndrome skos:exactMatch MONDO:0009045 semapv:UnspecifiedMatching +OMIM:219000 fraser syndrome 1 skos:exactMatch MONDO:0054737 semapv:UnspecifiedMatching +OMIM:219050 cryptorchidism, unilateral or bilateral skos:exactMatch MONDO:0009047 semapv:UnspecifiedMatching +OMIM:219070 curved nail of fourth toe skos:exactMatch MONDO:0009048 semapv:UnspecifiedMatching +OMIM:219080 acth-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0020735 semapv:UnspecifiedMatching +OMIM:219090 pituitary adenoma 4, acth-secreting skos:exactMatch MONDO:0009050 semapv:UnspecifiedMatching +OMIM:219095 cutaneous photosensitivity and colitis, lethal skos:exactMatch MONDO:0009051 semapv:UnspecifiedMatching +OMIM:219100 cutis laxa, autosomal recessive, iia 1a skos:exactMatch MONDO:0009052 semapv:UnspecifiedMatching +OMIM:219150 cutis laxa, autosomal recessive, iia 3a skos:exactMatch MONDO:0009053 semapv:UnspecifiedMatching +OMIM:219200 cutis laxa, autosomal recessive, iia 2a skos:exactMatch MONDO:0018163 semapv:UnspecifiedMatching +OMIM:219250 cutis marmorata telangiectatica congenita skos:exactMatch MONDO:0009055 semapv:UnspecifiedMatching +OMIM:219300 cutis verticis gyrata and mental retardation skos:exactMatch MONDO:0009056 semapv:UnspecifiedMatching +OMIM:219400 cyanosis and hepatic disease skos:exactMatch MONDO:0009057 semapv:UnspecifiedMatching +OMIM:219500 cystathioninuria skos:exactMatch MONDO:0009058 semapv:UnspecifiedMatching +OMIM:219500 cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching +OMIM:219500 cystathioninuria skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching +OMIM:219500 cystathioninuria skos:exactMatch UMLS:C3495552 semapv:UnspecifiedMatching +OMIM:219550 cysteine peptiduria skos:exactMatch MONDO:0009059 semapv:UnspecifiedMatching +OMIM:219600 cystic disease of lung skos:exactMatch MONDO:0009060 semapv:UnspecifiedMatching +OMIM:219700 cystic fibrosis skos:exactMatch MONDO:0009061 semapv:UnspecifiedMatching +OMIM:219700 cystic fibrosis skos:exactMatch Orphanet:586 semapv:UnspecifiedMatching +OMIM:219700 cystic fibrosis skos:exactMatch UMLS:C0010674 semapv:UnspecifiedMatching +OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation skos:exactMatch MONDO:0009062 semapv:UnspecifiedMatching +OMIM:219730 ventriculomegaly with cystic kidney disease skos:exactMatch MONDO:0009063 semapv:UnspecifiedMatching +OMIM:219750 cystinosis, adult nonnephropathic skos:exactMatch MONDO:0009064 semapv:UnspecifiedMatching +OMIM:219800 cystinosis, nephropathic skos:exactMatch MONDO:0100151 semapv:UnspecifiedMatching +OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia skos:exactMatch MONDO:0009066 semapv:UnspecifiedMatching +OMIM:220100 cystinuria skos:exactMatch MONDO:0009067 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch MONDO:0009068 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C0268237 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching +OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch MONDO:0009069 semapv:UnspecifiedMatching +OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching +OMIM:220120 d-glyceric aciduria skos:exactMatch MONDO:0009070 semapv:UnspecifiedMatching +OMIM:220150 hypouricemia, renal, 1 skos:exactMatch MONDO:0020728 semapv:UnspecifiedMatching +OMIM:220200 dandy-walker syndrome skos:exactMatch MONDO:0009072 semapv:UnspecifiedMatching +OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch MONDO:0009073 semapv:UnspecifiedMatching +OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching +OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching +OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C4551776 semapv:UnspecifiedMatching +OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy skos:exactMatch MONDO:0009074 semapv:UnspecifiedMatching +OMIM:220220 dandy-walker malformation with postaxial polydactyly skos:exactMatch MONDO:0009075 semapv:UnspecifiedMatching +OMIM:220290 deafness, autosomal recessive 1a skos:exactMatch MONDO:0009076 semapv:UnspecifiedMatching +OMIM:220300 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch MONDO:0009077 semapv:UnspecifiedMatching +OMIM:220400 jervell and lange-nielsen syndrome 1 skos:exactMatch MONDO:0024540 semapv:UnspecifiedMatching +OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome skos:exactMatch MONDO:0009079 semapv:UnspecifiedMatching +OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive skos:exactMatch MONDO:0009080 semapv:UnspecifiedMatching +OMIM:220900 deafness, congenital, with total albinism skos:exactMatch MONDO:0009081 semapv:UnspecifiedMatching +OMIM:221200 deafness and myopia skos:exactMatch MONDO:0009082 semapv:UnspecifiedMatching +OMIM:221300 deafness, conductive, with malformed external ear skos:exactMatch MONDO:0009083 semapv:UnspecifiedMatching +OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies skos:exactMatch MONDO:0009084 semapv:UnspecifiedMatching +OMIM:221350 deafness, congenital, with vitiligo and achalasia skos:exactMatch MONDO:0009085 semapv:UnspecifiedMatching +OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy skos:exactMatch MONDO:0009086 semapv:UnspecifiedMatching +OMIM:221500 deafness, neural, congenital moderate skos:exactMatch MONDO:0009087 semapv:UnspecifiedMatching +OMIM:221700 deafness, neural, with atypical atopic dermatitis skos:exactMatch MONDO:0009088 semapv:UnspecifiedMatching +OMIM:221740 deafness-oligodontia syndrome skos:exactMatch MONDO:0009089 semapv:UnspecifiedMatching +OMIM:221745 deafness, sensorineural, autosomal-mitochondrial iia skos:exactMatch MONDO:0009090 semapv:UnspecifiedMatching +OMIM:221750 pituitary hormone deficiency, combined, 3 skos:exactMatch MONDO:0009091 semapv:UnspecifiedMatching +OMIM:221760 dermatoglyphics--palmar triradius d, absence of skos:exactMatch MONDO:0044253 semapv:UnspecifiedMatching +OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:exactMatch MONDO:0020749 semapv:UnspecifiedMatching +OMIM:221780 dermatoglyphics--hypothenar radial arch skos:exactMatch MONDO:0044254 semapv:UnspecifiedMatching +OMIM:221790 dermatoleukodystrophy skos:exactMatch MONDO:0009093 semapv:UnspecifiedMatching +OMIM:221800 dermochondrocorneal dystrophy skos:exactMatch MONDO:0009094 semapv:UnspecifiedMatching +OMIM:221810 dermatoosteolysis, kirghizian iia skos:exactMatch MONDO:0009095 semapv:UnspecifiedMatching +OMIM:221820 leukoencephalopathy, hereditary diffuse, with spheroids 1 skos:exactMatch MONDO:0800027 semapv:UnspecifiedMatching +OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch MONDO:0009097 semapv:UnspecifiedMatching +OMIM:221950 dextrocardia with unusual facies and microphthalmia skos:exactMatch MONDO:0009098 semapv:UnspecifiedMatching +OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification skos:exactMatch MONDO:0009099 semapv:UnspecifiedMatching +OMIM:222100 iia 1 diabetes mellitus skos:exactMatch MONDO:0005147 semapv:UnspecifiedMatching +OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C0011854 semapv:UnspecifiedMatching +OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C5435660 semapv:UnspecifiedMatching +OMIM:222300 wolfram syndrome 1 skos:exactMatch MONDO:0009101 semapv:UnspecifiedMatching +OMIM:222350 diaminopentanuria skos:exactMatch MONDO:0009102 semapv:UnspecifiedMatching +OMIM:222400 diaphragmatic hernia 2 skos:exactMatch MONDO:0009103 semapv:UnspecifiedMatching +OMIM:222448 donnai-barrow syndrome skos:exactMatch MONDO:0009104 semapv:UnspecifiedMatching +OMIM:222470 trichohepatoenteric syndrome 1 skos:exactMatch MONDO:0024541 semapv:UnspecifiedMatching +OMIM:222500 diastematomyelia skos:exactMatch MONDO:0009106 semapv:UnspecifiedMatching +OMIM:222600 diastrophic dysplasia skos:exactMatch MONDO:0009107 semapv:UnspecifiedMatching +OMIM:222690 dibasic amino aciduria 1 skos:exactMatch MONDO:0009108 semapv:UnspecifiedMatching +OMIM:222700 lysinuric protein intolerance skos:exactMatch MONDO:0009109 semapv:UnspecifiedMatching +OMIM:222730 dicarboxylic aminoaciduria skos:exactMatch MONDO:0009110 semapv:UnspecifiedMatching +OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:2753 semapv:UnspecifiedMatching +OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:DECR1 semapv:UnspecifiedMatching +OMIM:222745 DECR1 skos:exactMatch ncbigene:1666 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch MONDO:0009111 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch Orphanet:38874 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C3495551 semapv:UnspecifiedMatching +OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 skos:exactMatch MONDO:0009112 semapv:UnspecifiedMatching +OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch MONDO:0009113 semapv:UnspecifiedMatching +OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching +OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching +OMIM:222900 sucrase-isomaltase deficiency, congenital skos:exactMatch MONDO:0009114 semapv:UnspecifiedMatching +OMIM:223000 lactase deficiency, congenital skos:exactMatch MONDO:0009115 semapv:UnspecifiedMatching +OMIM:223100 lactose intolerance, adult iia skos:exactMatch MONDO:0006065 semapv:UnspecifiedMatching +OMIM:223200 disorganization, mouse, homolog of skos:exactMatch MONDO:0009117 semapv:UnspecifiedMatching +OMIM:223300 disseminated sclerosis with narcolepsy skos:exactMatch MONDO:0009118 semapv:UnspecifiedMatching +OMIM:223320 diverticulosis, small-intestinal skos:exactMatch MONDO:0009119 semapv:UnspecifiedMatching +OMIM:223330 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch MONDO:0009120 semapv:UnspecifiedMatching +OMIM:223340 dk phocomelia syndrome skos:exactMatch MONDO:0009121 semapv:UnspecifiedMatching +OMIM:223350 dohle bodies and leukemia skos:exactMatch MONDO:0009122 semapv:UnspecifiedMatching +OMIM:223360 orthostatic hypotension 1 skos:exactMatch MONDO:0009123 semapv:UnspecifiedMatching +OMIM:223360 orthostatic hypotension 1 skos:exactMatch Orphanet:230 semapv:UnspecifiedMatching +OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C0342687 semapv:UnspecifiedMatching +OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C4746777 semapv:UnspecifiedMatching +OMIM:223370 dubowitz syndrome skos:exactMatch MONDO:0009124 semapv:UnspecifiedMatching +OMIM:223380 dopamine beta-hydroxylase, plasma, thermolability of skos:exactMatch MONDO:0009125 semapv:UnspecifiedMatching +OMIM:223400 duodenal atresia skos:exactMatch MONDO:0009126 semapv:UnspecifiedMatching +OMIM:223500 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch MONDO:0009127 semapv:UnspecifiedMatching +OMIM:223540 dwarfism, mental retardation, and eye abnormality skos:exactMatch MONDO:0009128 semapv:UnspecifiedMatching +OMIM:223550 dwarfism, proportionate, with hip dislocation skos:exactMatch MONDO:0009129 semapv:UnspecifiedMatching +OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch MONDO:0009130 semapv:UnspecifiedMatching +OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch Orphanet:239 semapv:UnspecifiedMatching +OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch UMLS:C0265286 semapv:UnspecifiedMatching +OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch MONDO:0009131 semapv:UnspecifiedMatching +OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch Orphanet:1764 semapv:UnspecifiedMatching +OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching +OMIM:224000 dysautonomia-like disorder skos:exactMatch MONDO:0009132 semapv:UnspecifiedMatching +OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 skos:exactMatch MONDO:0024542 semapv:UnspecifiedMatching +OMIM:224100 anemia, congenital dyserythropoietic, iia 2 skos:exactMatch MONDO:0009134 semapv:UnspecifiedMatching +OMIM:224120 anemia, congenital dyserythropoietic, iia ia skos:exactMatch MONDO:0009135 semapv:UnspecifiedMatching +OMIM:224230 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch MONDO:0009136 semapv:UnspecifiedMatching +OMIM:224250 dysmyelination with jaundice skos:exactMatch MONDO:0009137 semapv:UnspecifiedMatching +OMIM:224300 dysosteosclerosis skos:exactMatch MONDO:0009138 semapv:UnspecifiedMatching +OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia skos:exactMatch MONDO:0009139 semapv:UnspecifiedMatching +OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch MONDO:0009140 semapv:UnspecifiedMatching +OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching +OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching +OMIM:224500 dystonia 2, torsion, autosomal recessive skos:exactMatch MONDO:0009141 semapv:UnspecifiedMatching +OMIM:224550 dystonia with ringbinden skos:exactMatch MONDO:0009142 semapv:UnspecifiedMatching +OMIM:224690 meier-gorlin syndrome 1 skos:exactMatch MONDO:0009143 semapv:UnspecifiedMatching +OMIM:224700 ebstein anomaly skos:exactMatch MONDO:0009144 semapv:UnspecifiedMatching +OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch MONDO:0009145 semapv:UnspecifiedMatching +OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching +OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching +OMIM:224800 ectodermal dysplasia and neurosensory deafness skos:exactMatch MONDO:0009146 semapv:UnspecifiedMatching +OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch MONDO:0009147 semapv:UnspecifiedMatching +OMIM:225000 rosselli-gulienetti syndrome skos:exactMatch MONDO:0009148 semapv:UnspecifiedMatching +OMIM:225000 rosselli-gulienetti syndrome skos:exactMatch UMLS:C0796139 semapv:UnspecifiedMatching +OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum skos:exactMatch MONDO:0009149 semapv:UnspecifiedMatching +OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia skos:exactMatch MONDO:0009150 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch MONDO:0009151 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1833538 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching +OMIM:225100 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch MONDO:0009152 semapv:UnspecifiedMatching +OMIM:225200 ectopia lentis et pupillae skos:exactMatch MONDO:0009153 semapv:UnspecifiedMatching +OMIM:225250 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch MONDO:0009154 semapv:UnspecifiedMatching +OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch MONDO:0009155 semapv:UnspecifiedMatching +OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching +OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch UMLS:C1857041 semapv:UnspecifiedMatching +OMIM:225290 ectrodactyly-polydactyly skos:exactMatch MONDO:0009156 semapv:UnspecifiedMatching +OMIM:225300 split-hand/foot malformation 6 skos:exactMatch MONDO:0009157 semapv:UnspecifiedMatching +OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality skos:exactMatch MONDO:0009158 semapv:UnspecifiedMatching +OMIM:225320 ehlers-danlos syndrome, cardiac valvular iia skos:exactMatch MONDO:0009159 semapv:UnspecifiedMatching +OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 skos:exactMatch MONDO:0016002 semapv:UnspecifiedMatching +OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia skos:exactMatch MONDO:0009161 semapv:UnspecifiedMatching +OMIM:225500 ellis-van creveld syndrome skos:exactMatch MONDO:0009162 semapv:UnspecifiedMatching +OMIM:225700 encephalomalacia, multilocular skos:exactMatch MONDO:0009163 semapv:UnspecifiedMatching +OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch MONDO:0009164 semapv:UnspecifiedMatching +OMIM:225750 aicardi-goutieres syndrome 1 skos:exactMatch MONDO:0009165 semapv:UnspecifiedMatching +OMIM:225753 pontocerebellar hypoplasia, iia 4 skos:exactMatch MONDO:0009166 semapv:UnspecifiedMatching +OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration skos:exactMatch MONDO:0009167 semapv:UnspecifiedMatching +OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch MONDO:0009168 semapv:UnspecifiedMatching +OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch Orphanet:221126 semapv:UnspecifiedMatching +OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C1856972 semapv:UnspecifiedMatching +OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C3203738 semapv:UnspecifiedMatching +OMIM:226000 endocardial fibroelastosis skos:exactMatch MONDO:0009169 semapv:UnspecifiedMatching +OMIM:226100 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch MONDO:0009170 semapv:UnspecifiedMatching +OMIM:226110 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch MONDO:0009171 semapv:UnspecifiedMatching +OMIM:226150 enterocolitis skos:exactMatch MONDO:0009172 semapv:UnspecifiedMatching +OMIM:226200 enterokinase deficiency skos:exactMatch MONDO:0009173 semapv:UnspecifiedMatching +OMIM:226200 enterokinase deficiency skos:exactMatch Orphanet:168601 semapv:UnspecifiedMatching +OMIM:226200 enterokinase deficiency skos:exactMatch UMLS:C0268416 semapv:UnspecifiedMatching +OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch MONDO:0009174 semapv:UnspecifiedMatching +OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch Orphanet:566175 semapv:UnspecifiedMatching +OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch UMLS:C4538570 semapv:UnspecifiedMatching +OMIM:226350 eosinophilic fasciitis skos:exactMatch MONDO:0009175 semapv:UnspecifiedMatching +OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 skos:exactMatch MONDO:0100045 semapv:UnspecifiedMatching +OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation skos:exactMatch MONDO:0009177 semapv:UnspecifiedMatching +OMIM:226500 epidermolysis bullosa dystrophica neurotrophica skos:exactMatch MONDO:0009178 semapv:UnspecifiedMatching +OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive skos:exactMatch MONDO:0009179 semapv:UnspecifiedMatching +OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate skos:exactMatch MONDO:0009180 semapv:UnspecifiedMatching +OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy skos:exactMatch MONDO:0009181 semapv:UnspecifiedMatching +OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch MONDO:0009182 semapv:UnspecifiedMatching +OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch Orphanet:79404 semapv:UnspecifiedMatching +OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch UMLS:C0079683 semapv:UnspecifiedMatching +OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch MONDO:0009183 semapv:UnspecifiedMatching +OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching +OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch UMLS:C1856934 semapv:UnspecifiedMatching +OMIM:226735 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch MONDO:0009184 semapv:UnspecifiedMatching +OMIM:226750 kohlschutter-tonz syndrome skos:exactMatch MONDO:0009185 semapv:UnspecifiedMatching +OMIM:226800 epilepsy, photogenic, with spastic diplegia and mental retardation skos:exactMatch MONDO:0009186 semapv:UnspecifiedMatching +OMIM:226810 epilepsy with bilateral occipital calcifications skos:exactMatch MONDO:0009187 semapv:UnspecifiedMatching +OMIM:226850 epilepsy-telangiectasia skos:exactMatch MONDO:0009188 semapv:UnspecifiedMatching +OMIM:226900 epiphyseal dysplasia, multiple, 4 skos:exactMatch MONDO:0009189 semapv:UnspecifiedMatching +OMIM:226950 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch MONDO:0009190 semapv:UnspecifiedMatching +OMIM:226960 lowry-wood syndrome skos:exactMatch MONDO:0009191 semapv:UnspecifiedMatching +OMIM:226960 lowry-wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching +OMIM:226960 lowry-wood syndrome skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching +OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus skos:exactMatch MONDO:0009192 semapv:UnspecifiedMatching +OMIM:226985 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch MONDO:0009193 semapv:UnspecifiedMatching +OMIM:226990 immunodeficiency 32b skos:exactMatch MONDO:0009194 semapv:UnspecifiedMatching +OMIM:227000 erythema of acral regions skos:exactMatch MONDO:0009195 semapv:UnspecifiedMatching +OMIM:227010 ermine phenotype skos:exactMatch MONDO:0009196 semapv:UnspecifiedMatching +OMIM:227050 transient erythroblastopenia of childhood skos:exactMatch MONDO:0009197 semapv:UnspecifiedMatching +OMIM:227090 erythroderma, lethal congenital skos:exactMatch MONDO:0009198 semapv:UnspecifiedMatching +OMIM:227150 ethanolaminosis skos:exactMatch MONDO:0009199 semapv:UnspecifiedMatching +OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly skos:exactMatch MONDO:0009200 semapv:UnspecifiedMatching +OMIM:227220 skin/hair/eye pigmentation, variation in, 1 skos:exactMatch MONDO:0044255 semapv:UnspecifiedMatching +OMIM:227240 skin/hair/eye pigmentation, variation in, 5 skos:exactMatch MONDO:0044256 semapv:UnspecifiedMatching +OMIM:227250 facial abnormalities, kyphoscoliosis, and mental retardation skos:exactMatch MONDO:0009201 semapv:UnspecifiedMatching +OMIM:227255 facial dysmorphism with multiple malformations skos:exactMatch MONDO:0009202 semapv:UnspecifiedMatching +OMIM:227260 focal facial dermal dysplasia 3, setleis iia skos:exactMatch MONDO:0009203 semapv:UnspecifiedMatching +OMIM:227270 faciocardiomelic dysplasia, lethal skos:exactMatch MONDO:0009204 semapv:UnspecifiedMatching +OMIM:227280 faciocardiorenal syndrome skos:exactMatch MONDO:0009205 semapv:UnspecifiedMatching +OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 skos:exactMatch MONDO:0009206 semapv:UnspecifiedMatching +OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor skos:exactMatch MONDO:0009207 semapv:UnspecifiedMatching +OMIM:227320 faciothoracogenital syndrome skos:exactMatch MONDO:0009208 semapv:UnspecifiedMatching +OMIM:227330 faciodigitogenital syndrome, autosomal recessive skos:exactMatch MONDO:0009209 semapv:UnspecifiedMatching +OMIM:227400 factor 5 deficiency skos:exactMatch MONDO:0009210 semapv:UnspecifiedMatching +OMIM:227400 factor 5 deficiency skos:exactMatch Orphanet:326 semapv:UnspecifiedMatching +OMIM:227400 factor 5 deficiency skos:exactMatch UMLS:C0015499 semapv:UnspecifiedMatching +OMIM:227500 factor 7 deficiency skos:exactMatch MONDO:0009211 semapv:UnspecifiedMatching +OMIM:227600 factor 10 deficiency skos:exactMatch MONDO:0009212 semapv:UnspecifiedMatching +OMIM:227645 fanconi anemia, complementation group c skos:exactMatch MONDO:0009213 semapv:UnspecifiedMatching +OMIM:227646 fanconi anemia, complementation group d2 skos:exactMatch MONDO:0009214 semapv:UnspecifiedMatching +OMIM:227650 fanconi anemia, complementation group a skos:exactMatch MONDO:0009215 semapv:UnspecifiedMatching +OMIM:227810 fanconi-bickel syndrome skos:exactMatch MONDO:0009216 semapv:UnspecifiedMatching +OMIM:227850 fanconi-like syndrome skos:exactMatch MONDO:0009217 semapv:UnspecifiedMatching +OMIM:228000 farber lipogranulomatosis skos:exactMatch MONDO:0009218 semapv:UnspecifiedMatching +OMIM:228000 farber lipogranulomatosis skos:exactMatch Orphanet:333 semapv:UnspecifiedMatching +OMIM:228000 farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching +OMIM:228020 fascial dystrophy, congenital skos:exactMatch MONDO:0009219 semapv:UnspecifiedMatching +OMIM:228100 visceral steatosis, congenital skos:exactMatch MONDO:0009220 semapv:UnspecifiedMatching +OMIM:228200 femur-fibula-ulna syndrome skos:exactMatch MONDO:0009221 semapv:UnspecifiedMatching +OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly skos:exactMatch MONDO:0009222 semapv:UnspecifiedMatching +OMIM:228300 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch MONDO:0009223 semapv:UnspecifiedMatching +OMIM:228355 fetal iodine deficiency disorder skos:exactMatch MONDO:0009224 semapv:UnspecifiedMatching +OMIM:228400 fever, familial lifelong persistent skos:exactMatch MONDO:0009225 semapv:UnspecifiedMatching +OMIM:228520 fibrochondrogenesis 1 skos:exactMatch MONDO:0009226 semapv:UnspecifiedMatching +OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch MONDO:0009227 semapv:UnspecifiedMatching +OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching +OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C0432284 semapv:UnspecifiedMatching +OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching +OMIM:228560 fibromatosis, gingival, with distinctive facies skos:exactMatch MONDO:0009228 semapv:UnspecifiedMatching +OMIM:228600 hyaline fibromatosis syndrome skos:exactMatch MONDO:0009229 semapv:UnspecifiedMatching +OMIM:228800 fibrosclerosis, multifocal skos:exactMatch MONDO:0009230 semapv:UnspecifiedMatching +OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch MONDO:0009231 semapv:UnspecifiedMatching +OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch Orphanet:2639 semapv:UnspecifiedMatching +OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching +OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly skos:exactMatch MONDO:0009232 semapv:UnspecifiedMatching +OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities skos:exactMatch MONDO:0009233 semapv:UnspecifiedMatching +OMIM:228960 high molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 semapv:UnspecifiedMatching +OMIM:228980 fleck retina, familial benign skos:exactMatch MONDO:0009235 semapv:UnspecifiedMatching +OMIM:228990 fleck retina of kandori skos:exactMatch MONDO:0009236 semapv:UnspecifiedMatching +OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:6371 semapv:UnspecifiedMatching +OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:KLKB1 semapv:UnspecifiedMatching +OMIM:229000 KLKB1 skos:exactMatch ncbigene:3818 semapv:UnspecifiedMatching +OMIM:229045 focal epithelial hyperplasia, oral skos:exactMatch MONDO:0009237 semapv:UnspecifiedMatching +OMIM:229050 folate malabsorption, hereditary skos:exactMatch MONDO:0009238 semapv:UnspecifiedMatching +OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia skos:exactMatch MONDO:0009239 semapv:UnspecifiedMatching +OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch MONDO:0009240 semapv:UnspecifiedMatching +OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch Orphanet:51208 semapv:UnspecifiedMatching +OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching +OMIM:229120 fountain syndrome skos:exactMatch MONDO:0009241 semapv:UnspecifiedMatching +OMIM:229200 brittle cornea syndrome 1 skos:exactMatch MONDO:0024543 semapv:UnspecifiedMatching +OMIM:229230 fraser-like syndrome skos:exactMatch MONDO:0009243 semapv:UnspecifiedMatching +OMIM:229250 freesia flowers, inability to smell skos:exactMatch MONDO:0009244 semapv:UnspecifiedMatching +OMIM:229300 friedreich ataxia skos:exactMatch MONDO:0100340 semapv:UnspecifiedMatching +OMIM:229310 friedreich ataxia and congenital glaucoma skos:exactMatch MONDO:0009246 semapv:UnspecifiedMatching +OMIM:229400 frontofacionasal dysplasia skos:exactMatch MONDO:0009247 semapv:UnspecifiedMatching +OMIM:229500 fructose and galactose intolerance skos:exactMatch MONDO:0009248 semapv:UnspecifiedMatching +OMIM:229600 fructose intolerance, hereditary skos:exactMatch MONDO:0009249 semapv:UnspecifiedMatching +OMIM:229600 fructose intolerance, hereditary skos:exactMatch Orphanet:469 semapv:UnspecifiedMatching +OMIM:229600 fructose intolerance, hereditary skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching +OMIM:229650 fructose utilization skos:exactMatch MONDO:0009250 semapv:UnspecifiedMatching +OMIM:229700 fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 semapv:UnspecifiedMatching +OMIM:229800 fructosuria, essential skos:exactMatch MONDO:0009252 semapv:UnspecifiedMatching +OMIM:229850 fryns syndrome skos:exactMatch MONDO:0009253 semapv:UnspecifiedMatching +OMIM:230000 fucosidosis skos:exactMatch MONDO:0009254 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch MONDO:0009255 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:79237 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching +OMIM:230300 galactorrhea skos:exactMatch MONDO:0009256 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch MONDO:0009257 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching +OMIM:230400 galactosemia 1 skos:exactMatch MONDO:0009258 semapv:UnspecifiedMatching +OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching +OMIM:230400 galactosemia 1 skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching +OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to skos:exactMatch MONDO:0009259 semapv:UnspecifiedMatching +OMIM:230500 gm1-gangliosidosis, iia 1 skos:exactMatch MONDO:0009260 semapv:UnspecifiedMatching +OMIM:230600 gm1-gangliosidosis, iia 2 skos:exactMatch MONDO:0009261 semapv:UnspecifiedMatching +OMIM:230650 gm1-gangliosidosis, iia 3 skos:exactMatch MONDO:0009262 semapv:UnspecifiedMatching +OMIM:230740 gapo syndrome skos:exactMatch MONDO:0009263 semapv:UnspecifiedMatching +OMIM:230750 gastroschisis skos:exactMatch MONDO:0009264 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch MONDO:0009265 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch MONDO:0009266 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching +OMIM:231000 gaucher disease, iia 3 skos:exactMatch MONDO:0009267 semapv:UnspecifiedMatching +OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:77261 semapv:UnspecifiedMatching +OMIM:231000 gaucher disease, iia 3 skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch MONDO:0009268 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching +OMIM:231050 geleophysic dysplasia 1 skos:exactMatch MONDO:0009269 semapv:UnspecifiedMatching +OMIM:231060 genitopalatocardiac syndrome skos:exactMatch MONDO:0009270 semapv:UnspecifiedMatching +OMIM:231070 geroderma osteodysplasticum skos:exactMatch MONDO:0009271 semapv:UnspecifiedMatching +OMIM:231070 geroderma osteodysplasticum skos:exactMatch Orphanet:2078 semapv:UnspecifiedMatching +OMIM:231070 geroderma osteodysplasticum skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching +OMIM:231080 german syndrome skos:exactMatch MONDO:0009272 semapv:UnspecifiedMatching +OMIM:231090 hydatidiform mole, recurrent, 1 skos:exactMatch MONDO:0009273 semapv:UnspecifiedMatching +OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch MONDO:0009274 semapv:UnspecifiedMatching +OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching +OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch UMLS:C1856465 semapv:UnspecifiedMatching +OMIM:231100 hemochromatosis, neonatal skos:exactMatch MONDO:0009275 semapv:UnspecifiedMatching +OMIM:231200 bernard-soulier syndrome skos:exactMatch MONDO:0009276 semapv:UnspecifiedMatching +OMIM:231300 glaucoma 3, primary congenital, a skos:exactMatch MONDO:0009277 semapv:UnspecifiedMatching +OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency skos:exactMatch MONDO:0017715 semapv:UnspecifiedMatching +OMIM:231550 achalasia-addisonianism-alacrima syndrome skos:exactMatch MONDO:0009279 semapv:UnspecifiedMatching +OMIM:231630 monosodium glutamate sensitivity skos:exactMatch MONDO:0009280 semapv:UnspecifiedMatching +OMIM:231670 glutaric acidemia 1 skos:exactMatch MONDO:0009281 semapv:UnspecifiedMatching +OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:3483 semapv:UnspecifiedMatching +OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:ETFDH semapv:UnspecifiedMatching +OMIM:231675 ETFDH skos:exactMatch ncbigene:2110 semapv:UnspecifiedMatching +OMIM:231680 multiple acyl-coa dehydrogenase deficiency skos:exactMatch MONDO:0009282 semapv:UnspecifiedMatching +OMIM:231690 glutaric aciduria 3 skos:exactMatch MONDO:0009283 semapv:UnspecifiedMatching +OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to skos:exactMatch MONDO:0009284 semapv:UnspecifiedMatching +OMIM:231950 glutathionuria skos:exactMatch MONDO:0009285 semapv:UnspecifiedMatching +OMIM:231970 gluteal muscles, absence of skos:exactMatch MONDO:0009286 semapv:UnspecifiedMatching +OMIM:231970 gluteal muscles, absence of skos:exactMatch UMLS:C1856398 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch UMLS:C1418303 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch hgnc.symbol:8653 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch hgnc.symbol:PCCA semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch ncbigene:5095 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch UMLS:C1418304 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch hgnc.symbol:8654 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch hgnc.symbol:PCCB semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch ncbigene:5096 semapv:UnspecifiedMatching +OMIM:232200 glycogen storage disease ia skos:exactMatch MONDO:0009287 semapv:UnspecifiedMatching +OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching +OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:79258 semapv:UnspecifiedMatching +OMIM:232200 glycogen storage disease ia skos:exactMatch UMLS:C2919796 semapv:UnspecifiedMatching +OMIM:232220 glycogen storage disease ib skos:exactMatch MONDO:0009288 semapv:UnspecifiedMatching +OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching +OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:79259 semapv:UnspecifiedMatching +OMIM:232220 glycogen storage disease ib skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching +OMIM:232240 glycogen storage disease ic skos:exactMatch MONDO:0009288 semapv:UnspecifiedMatching +OMIM:232300 glycogen storage disease 2 skos:exactMatch MONDO:0009290 semapv:UnspecifiedMatching +OMIM:232300 glycogen storage disease 2 skos:exactMatch Orphanet:365 semapv:UnspecifiedMatching +OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching +OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C2931347 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch MONDO:0009291 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch Orphanet:366 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968739 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968740 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968741 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968742 semapv:UnspecifiedMatching +OMIM:232500 glycogen storage disease 4 skos:exactMatch MONDO:0009292 semapv:UnspecifiedMatching +OMIM:232600 glycogen storage disease 5 skos:exactMatch MONDO:0009293 semapv:UnspecifiedMatching +OMIM:232700 glycogen storage disease 6 skos:exactMatch MONDO:0009294 semapv:UnspecifiedMatching +OMIM:232700 glycogen storage disease 6 skos:exactMatch Orphanet:369 semapv:UnspecifiedMatching +OMIM:232700 glycogen storage disease 6 skos:exactMatch UMLS:C0017925 semapv:UnspecifiedMatching +OMIM:232800 glycogen storage disease 7 skos:exactMatch MONDO:0009295 semapv:UnspecifiedMatching +OMIM:232900 glycoprotein storage disease skos:exactMatch MONDO:0009296 semapv:UnspecifiedMatching +OMIM:233100 renal glucosuria skos:exactMatch MONDO:0009297 semapv:UnspecifiedMatching +OMIM:233100 renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching +OMIM:233100 renal glucosuria skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching +OMIM:233270 gombo syndrome skos:exactMatch MONDO:0009298 semapv:UnspecifiedMatching +OMIM:233300 ovarian dysgenesis 1 skos:exactMatch MONDO:0024463 semapv:UnspecifiedMatching +OMIM:233400 perrault syndrome 1 skos:exactMatch MONDO:0009300 semapv:UnspecifiedMatching +OMIM:233420 46,xy sex reversal 7 skos:exactMatch MONDO:0009301 semapv:UnspecifiedMatching +OMIM:233420 46,xy sex reversal 7 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching +OMIM:233420 46,xy sex reversal 7 skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching +OMIM:233450 goodpasture syndrome skos:exactMatch MONDO:0009303 semapv:UnspecifiedMatching +OMIM:233600 immunodeficiency 59 and hypoglycemia skos:exactMatch MONDO:0009305 semapv:UnspecifiedMatching +OMIM:233650 combined cellular and humoral immune defects with granulomas skos:exactMatch MONDO:0009306 semapv:UnspecifiedMatching +OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch MONDO:0009308 semapv:UnspecifiedMatching +OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching +OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch MONDO:0009309 semapv:UnspecifiedMatching +OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching +OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch MONDO:0009310 semapv:UnspecifiedMatching +OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching +OMIM:233800 grouped pigmentation of the retina skos:exactMatch MONDO:0009311 semapv:UnspecifiedMatching +OMIM:233805 growth factors, combined defect of skos:exactMatch MONDO:0009312 semapv:UnspecifiedMatching +OMIM:233810 growth retardation, small and puffy hands and feet, and eczema skos:exactMatch MONDO:0009313 semapv:UnspecifiedMatching +OMIM:233910 hyperphenylalaninemia, bh4-deficient, B skos:exactMatch MONDO:0100186 semapv:UnspecifiedMatching +OMIM:234000 factor 12 deficiency skos:exactMatch MONDO:0009315 semapv:UnspecifiedMatching +OMIM:234030 hair defect with photosensitivity and mental retardation skos:exactMatch MONDO:0022316 semapv:UnspecifiedMatching +OMIM:234050 trichothiodystrophy 4, nonphotosensitive skos:exactMatch MONDO:0021013 semapv:UnspecifiedMatching +OMIM:234100 hallermann-streiff syndrome skos:exactMatch MONDO:0009318 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch MONDO:0009319 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216866 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch UMLS:C0018523 semapv:UnspecifiedMatching +OMIM:234250 hall-riggs syndrome skos:exactMatch MONDO:0009320 semapv:UnspecifiedMatching +OMIM:234280 hallux varus and preaxial polysyndactyly skos:exactMatch MONDO:0009321 semapv:UnspecifiedMatching +OMIM:234300 halo nevi skos:exactMatch MONDO:0009322 semapv:UnspecifiedMatching +OMIM:234350 halothane hepatitis skos:exactMatch MONDO:0009323 semapv:UnspecifiedMatching +OMIM:234500 hartnup disorder skos:exactMatch MONDO:0009324 semapv:UnspecifiedMatching +OMIM:234500 hartnup disorder skos:exactMatch Orphanet:2116 semapv:UnspecifiedMatching +OMIM:234500 hartnup disorder skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching +OMIM:234580 heimler syndrome 1 skos:exactMatch MONDO:0024544 semapv:UnspecifiedMatching +OMIM:234700 heart block, congenital skos:exactMatch MONDO:0009326 semapv:UnspecifiedMatching +OMIM:234750 heart, malformation of skos:exactMatch MONDO:0009327 semapv:UnspecifiedMatching +OMIM:234800 hemangiomatosis, cutaneous, with associated features skos:exactMatch MONDO:0009328 semapv:UnspecifiedMatching +OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive skos:exactMatch MONDO:0009329 semapv:UnspecifiedMatching +OMIM:234820 hemangiopericytoma, malignant skos:exactMatch MONDO:0009330 semapv:UnspecifiedMatching +OMIM:235000 hemihyperplasia, isolated skos:exactMatch MONDO:0009331 semapv:UnspecifiedMatching +OMIM:235200 hemochromatosis, iia 1 skos:exactMatch MONDO:0021001 semapv:UnspecifiedMatching +OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly skos:exactMatch MONDO:0009333 semapv:UnspecifiedMatching +OMIM:235370 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch MONDO:0009334 semapv:UnspecifiedMatching +OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch MONDO:0009335 semapv:UnspecifiedMatching +OMIM:235500 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:exactMatch MONDO:0009336 semapv:UnspecifiedMatching +OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch MONDO:0009337 semapv:UnspecifiedMatching +OMIM:235550 hepatic venoocclusive disease with immunodeficiency skos:exactMatch MONDO:0009338 semapv:UnspecifiedMatching +OMIM:235555 bile acid synthesis defect, congenital, 2 skos:exactMatch MONDO:0009339 semapv:UnspecifiedMatching +OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency skos:exactMatch MONDO:0009340 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch MONDO:0009341 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261552 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching +OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness skos:exactMatch MONDO:0009342 semapv:UnspecifiedMatching +OMIM:235750 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch MONDO:0009343 semapv:UnspecifiedMatching +OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features skos:exactMatch MONDO:0009344 semapv:UnspecifiedMatching +OMIM:235800 histidinemia skos:exactMatch MONDO:0009345 semapv:UnspecifiedMatching +OMIM:235830 histidinuria due to a renal tubular defect skos:exactMatch MONDO:0009346 semapv:UnspecifiedMatching +OMIM:235900 histiocytosis, familial lipochrome skos:exactMatch MONDO:0009347 semapv:UnspecifiedMatching +OMIM:236000 lymphoma, hodgkin, classic skos:exactMatch MONDO:0009348 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch MONDO:0009349 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0078982 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0266667 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching +OMIM:236110 holzgreve syndrome skos:exactMatch MONDO:0009350 semapv:UnspecifiedMatching +OMIM:236130 homocarnosinosis skos:exactMatch MONDO:0009351 semapv:UnspecifiedMatching +OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency skos:exactMatch MONDO:0009352 semapv:UnspecifiedMatching +OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity skos:exactMatch MONDO:0009353 semapv:UnspecifiedMatching +OMIM:236270 homocystinuria-megaloblastic anemia, cble complementation iia skos:exactMatch MONDO:0009354 semapv:UnspecifiedMatching +OMIM:236300 hooft disease skos:exactMatch MONDO:0009355 semapv:UnspecifiedMatching +OMIM:236400 humeroradial synostosis skos:exactMatch MONDO:0009356 semapv:UnspecifiedMatching +OMIM:236410 humeroradial synostosis with craniofacial anomalies skos:exactMatch MONDO:0009357 semapv:UnspecifiedMatching +OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch MONDO:0009358 semapv:UnspecifiedMatching +OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly skos:exactMatch MONDO:0009359 semapv:UnspecifiedMatching +OMIM:236600 hydrocephalus, congenital, 1 skos:exactMatch MONDO:0009360 semapv:UnspecifiedMatching +OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius skos:exactMatch MONDO:0009361 semapv:UnspecifiedMatching +OMIM:236640 hydrocephalus with associated malformations skos:exactMatch MONDO:0009362 semapv:UnspecifiedMatching +OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis skos:exactMatch MONDO:0009363 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch MONDO:0009364 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching +OMIM:236680 hydrolethalus syndrome 1 skos:exactMatch MONDO:0009365 semapv:UnspecifiedMatching +OMIM:236690 hydrocephalus, normal-pressure, 1 skos:exactMatch MONDO:0009366 semapv:UnspecifiedMatching +OMIM:236690 hydrocephalus, normal-pressure, 1 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching +OMIM:236700 mckusick-kaufman syndrome skos:exactMatch MONDO:0009367 semapv:UnspecifiedMatching +OMIM:236730 urofacial syndrome 1 skos:exactMatch MONDO:0009368 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch MONDO:0009369 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:1041 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch UMLS:C0455988 semapv:UnspecifiedMatching +OMIM:236792 l-2-hydroxyglutaric aciduria skos:exactMatch MONDO:0009370 semapv:UnspecifiedMatching +OMIM:236795 3-hydroxyisobutyric aciduria skos:exactMatch MONDO:0009371 semapv:UnspecifiedMatching +OMIM:236800 hydroxykynureninuria skos:exactMatch MONDO:0009372 semapv:UnspecifiedMatching +OMIM:236800 hydroxykynureninuria skos:exactMatch Orphanet:79155 semapv:UnspecifiedMatching +OMIM:236800 hydroxykynureninuria skos:exactMatch UMLS:C0268474 semapv:UnspecifiedMatching +OMIM:236900 hydroxylysinuria skos:exactMatch MONDO:0009373 semapv:UnspecifiedMatching +OMIM:237000 hydroxyprolinemia skos:exactMatch MONDO:0009374 semapv:UnspecifiedMatching +OMIM:237100 hymen, imperforate skos:exactMatch MONDO:0009375 semapv:UnspecifiedMatching +OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to skos:exactMatch MONDO:0009376 semapv:UnspecifiedMatching +OMIM:237310 n-acetylglutamate synthase deficiency skos:exactMatch MONDO:0009377 semapv:UnspecifiedMatching +OMIM:237400 hyper-beta-alaninemia skos:exactMatch MONDO:0009378 semapv:UnspecifiedMatching +OMIM:237450 hyperbilirubinemia, rotor iia skos:exactMatch MONDO:0009379 semapv:UnspecifiedMatching +OMIM:237500 dubin-johnson syndrome skos:exactMatch MONDO:0009380 semapv:UnspecifiedMatching +OMIM:237550 hyperbilirubinemia, conjugated, iia 3 skos:exactMatch MONDO:0009381 semapv:UnspecifiedMatching +OMIM:237800 hyperbilirubinemia, shunt, primary skos:exactMatch MONDO:0009382 semapv:UnspecifiedMatching +OMIM:237900 hyperbilirubinemia, transient familial neonatal skos:exactMatch MONDO:0009383 semapv:UnspecifiedMatching +OMIM:238300 GLDC skos:exactMatch hgnc.symbol:4313 semapv:UnspecifiedMatching +OMIM:238300 GLDC skos:exactMatch hgnc.symbol:GLDC semapv:UnspecifiedMatching +OMIM:238300 GLDC skos:exactMatch ncbigene:2731 semapv:UnspecifiedMatching +OMIM:238310 AMT skos:exactMatch hgnc.symbol:473 semapv:UnspecifiedMatching +OMIM:238310 AMT skos:exactMatch hgnc.symbol:AMT semapv:UnspecifiedMatching +OMIM:238310 AMT skos:exactMatch ncbigene:275 semapv:UnspecifiedMatching +OMIM:238320 leydig cell hypoplasia, iia 1 skos:exactMatch MONDO:0009384 semapv:UnspecifiedMatching +OMIM:238330 GCSH skos:exactMatch hgnc.symbol:4208 semapv:UnspecifiedMatching +OMIM:238330 GCSH skos:exactMatch hgnc.symbol:GCSH semapv:UnspecifiedMatching +OMIM:238330 GCSH skos:exactMatch ncbigene:2653 semapv:UnspecifiedMatching +OMIM:238331 DLD skos:exactMatch hgnc.symbol:2898 semapv:UnspecifiedMatching +OMIM:238331 DLD skos:exactMatch hgnc.symbol:DLD semapv:UnspecifiedMatching +OMIM:238331 DLD skos:exactMatch ncbigene:1738 semapv:UnspecifiedMatching +OMIM:238340 hyperleucine-isoleucinemia skos:exactMatch MONDO:0009385 semapv:UnspecifiedMatching +OMIM:238350 hyperlexia skos:exactMatch MONDO:0009386 semapv:UnspecifiedMatching +OMIM:238600 hyperlipoproteinemia, iia 1 skos:exactMatch MONDO:0009387 semapv:UnspecifiedMatching +OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch MONDO:0009388 semapv:UnspecifiedMatching +OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch Orphanet:2203 semapv:UnspecifiedMatching +OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching +OMIM:238710 hyperlysinemia due to defect 1n lysine transport into mitochondria skos:exactMatch MONDO:0009389 semapv:UnspecifiedMatching +OMIM:238750 hyperlysinuria with hyperammonemia skos:exactMatch MONDO:0009390 semapv:UnspecifiedMatching +OMIM:238800 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 skos:exactMatch MONDO:0009391 semapv:UnspecifiedMatching +OMIM:238950 hyperopia, high skos:exactMatch MONDO:0009392 semapv:UnspecifiedMatching +OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 semapv:UnspecifiedMatching +OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch Orphanet:415 semapv:UnspecifiedMatching +OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch UMLS:C0268540 semapv:UnspecifiedMatching +OMIM:239000 paget disease of bone 5, juvenile-onset skos:exactMatch MONDO:0009394 semapv:UnspecifiedMatching +OMIM:239100 van buchem disease skos:exactMatch MONDO:0009395 semapv:UnspecifiedMatching +OMIM:239199 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch MONDO:0009396 semapv:UnspecifiedMatching +OMIM:239200 hyperparathyroidism, neonatal severe skos:exactMatch MONDO:0009397 semapv:UnspecifiedMatching +OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch MONDO:0009398 semapv:UnspecifiedMatching +OMIM:239350 hyperphosphatemia, polyuria, and seizures skos:exactMatch MONDO:0009399 semapv:UnspecifiedMatching +OMIM:239500 hyperprolinemia, iia 1 skos:exactMatch MONDO:0009400 semapv:UnspecifiedMatching +OMIM:239510 hyperprolinemia, iia 2 skos:exactMatch MONDO:0009401 semapv:UnspecifiedMatching +OMIM:239710 acrofrontofacionasal dysostosis 2 skos:exactMatch MONDO:0009402 semapv:UnspecifiedMatching +OMIM:239711 hypertelorism and tetralogy of fallot skos:exactMatch MONDO:0009403 semapv:UnspecifiedMatching +OMIM:239800 hypertelorism, microtia, facial clefting syndrome skos:exactMatch MONDO:0009404 semapv:UnspecifiedMatching +OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy skos:exactMatch MONDO:0009405 semapv:UnspecifiedMatching +OMIM:239850 cantu syndrome skos:exactMatch MONDO:0009406 semapv:UnspecifiedMatching +OMIM:239900 hypertrophic neuropathy and cataract skos:exactMatch MONDO:0009407 semapv:UnspecifiedMatching +OMIM:240000 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch MONDO:0009408 semapv:UnspecifiedMatching +OMIM:240150 hypervitaminosis a, susceptibility to skos:exactMatch MONDO:0009409 semapv:UnspecifiedMatching +OMIM:240200 hypoadrenocorticism, familial skos:exactMatch MONDO:0015129 semapv:UnspecifiedMatching +OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia skos:exactMatch MONDO:0009411 semapv:UnspecifiedMatching +OMIM:240400 hypoascorbemia skos:exactMatch MONDO:0009412 semapv:UnspecifiedMatching +OMIM:240400 hypoascorbemia skos:exactMatch hgnc.symbol:4695 semapv:UnspecifiedMatching +OMIM:240400 hypoascorbemia skos:exactMatch hgnc.symbol:GULOP semapv:UnspecifiedMatching +OMIM:240500 immunodeficiency, common variable, 2 skos:exactMatch MONDO:0009413 semapv:UnspecifiedMatching +OMIM:240600 glycogen storage disease 0, liver skos:exactMatch MONDO:0009414 semapv:UnspecifiedMatching +OMIM:240800 hypoglycemia, leucine-induced skos:exactMatch MONDO:0009415 semapv:UnspecifiedMatching +OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy skos:exactMatch MONDO:0009416 semapv:UnspecifiedMatching +OMIM:240950 hypogonadism-cataract syndrome skos:exactMatch MONDO:0009417 semapv:UnspecifiedMatching +OMIM:241000 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch MONDO:0009418 semapv:UnspecifiedMatching +OMIM:241080 woodhouse-sakati syndrome skos:exactMatch MONDO:0009419 semapv:UnspecifiedMatching +OMIM:241090 hypergonadotropic hypogonadism and partial alopecia skos:exactMatch MONDO:0009420 semapv:UnspecifiedMatching +OMIM:241100 hypogonadism, male skos:exactMatch MONDO:0009421 semapv:UnspecifiedMatching +OMIM:241120 hypohidrosis with abnormal palmar dermal ridges skos:exactMatch MONDO:0009422 semapv:UnspecifiedMatching +OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch MONDO:0009423 semapv:UnspecifiedMatching +OMIM:241200 bartter syndrome, iia 2, antenatal skos:exactMatch MONDO:0009424 semapv:UnspecifiedMatching +OMIM:241310 hypomandibular faciocranial dysostosis skos:exactMatch MONDO:0009425 semapv:UnspecifiedMatching +OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch MONDO:0009426 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch MONDO:0009427 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247623 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247651 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch UMLS:C0268412 semapv:UnspecifiedMatching +OMIM:241510 hypophosphatasia, childhood skos:exactMatch MONDO:0009428 semapv:UnspecifiedMatching +OMIM:241519 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch MONDO:0009429 semapv:UnspecifiedMatching +OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch MONDO:0009430 semapv:UnspecifiedMatching +OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary skos:exactMatch MONDO:0009431 semapv:UnspecifiedMatching +OMIM:241540 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch MONDO:0009432 semapv:UnspecifiedMatching +OMIM:241550 hypoplastic left heart syndrome 1 skos:exactMatch MONDO:0009433 semapv:UnspecifiedMatching +OMIM:241600 immunodeficiency 43 skos:exactMatch MONDO:0009434 semapv:UnspecifiedMatching +OMIM:241760 hypospadias-mental retardation syndrome skos:exactMatch MONDO:0009435 semapv:UnspecifiedMatching +OMIM:241800 pallister-hall-like syndrome skos:exactMatch MONDO:0009436 semapv:UnspecifiedMatching +OMIM:241800 pallister-hall-like syndrome skos:exactMatch Orphanet:2113 semapv:UnspecifiedMatching +OMIM:241800 pallister-hall-like syndrome skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching +OMIM:241850 bamforth-lazarus syndrome skos:exactMatch MONDO:0009437 semapv:UnspecifiedMatching +OMIM:242050 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch MONDO:0009438 semapv:UnspecifiedMatching +OMIM:242100 ichthyosis, congenital, autosomal recessive 2 skos:exactMatch MONDO:0009439 semapv:UnspecifiedMatching +OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch MONDO:0009440 semapv:UnspecifiedMatching +OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching +OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching +OMIM:242300 ichthyosis, congenital, autosomal recessive 1 skos:exactMatch MONDO:0009441 semapv:UnspecifiedMatching +OMIM:242400 ichthyosis congenita with biliary atresia skos:exactMatch MONDO:0009442 semapv:UnspecifiedMatching +OMIM:242500 ichthyosis, congenital, autosomal recessive 4b skos:exactMatch MONDO:0009443 semapv:UnspecifiedMatching +OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation skos:exactMatch MONDO:0009444 semapv:UnspecifiedMatching +OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration skos:exactMatch MONDO:0009445 semapv:UnspecifiedMatching +OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment skos:exactMatch MONDO:0009446 semapv:UnspecifiedMatching +OMIM:242550 ichthyosis, split hairs, and amino aciduria skos:exactMatch MONDO:0009447 semapv:UnspecifiedMatching +OMIM:242600 iminoglycinuria skos:exactMatch MONDO:0009448 semapv:UnspecifiedMatching +OMIM:242670 ciliary dyskinesia with defective radial spokes skos:exactMatch MONDO:0009449 semapv:UnspecifiedMatching +OMIM:242680 ciliary dyskinesia with excessively long cilia skos:exactMatch MONDO:0009450 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch MONDO:0009451 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch Orphanet:83471 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C0152094 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C1744558 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching +OMIM:242840 vici syndrome skos:exactMatch MONDO:0009452 semapv:UnspecifiedMatching +OMIM:242850 immune deficiency disease skos:exactMatch MONDO:0009453 semapv:UnspecifiedMatching +OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch MONDO:0009454 semapv:UnspecifiedMatching +OMIM:242870 immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes skos:exactMatch MONDO:0009455 semapv:UnspecifiedMatching +OMIM:242880 immunoerythromyeloid hypoplasia skos:exactMatch MONDO:0009456 semapv:UnspecifiedMatching +OMIM:242890 immunoglobulin d level 1n plasma, low skos:exactMatch MONDO:0009457 semapv:UnspecifiedMatching +OMIM:242900 schimke immunoosseous dysplasia skos:exactMatch MONDO:0009458 semapv:UnspecifiedMatching +OMIM:243000 indifference to pain, congenital, autosomal recessive skos:exactMatch MONDO:0009459 semapv:UnspecifiedMatching +OMIM:243050 indolylacroyl glycinuria with mental retardation skos:exactMatch MONDO:0009460 semapv:UnspecifiedMatching +OMIM:243060 spermatogenic failure 5 skos:exactMatch MONDO:0009461 semapv:UnspecifiedMatching +OMIM:243080 inosine phosphorylase deficiency, immune defect due to skos:exactMatch MONDO:0009462 semapv:UnspecifiedMatching +OMIM:243100 internal carotid arteries, hypoplasia of skos:exactMatch MONDO:0009463 semapv:UnspecifiedMatching +OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 skos:exactMatch MONDO:0009464 semapv:UnspecifiedMatching +OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch MONDO:0800030 semapv:UnspecifiedMatching +OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive skos:exactMatch MONDO:8000011 semapv:UnspecifiedMatching +OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth skos:exactMatch MONDO:0009467 semapv:UnspecifiedMatching +OMIM:243200 intracranial hypertension, idiopathic skos:exactMatch MONDO:0009468 semapv:UnspecifiedMatching +OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 skos:exactMatch MONDO:0009469 semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch UMLS:C1425144 semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch UMLS:C1865872 semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch hgnc.symbol:17870 semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch hgnc.symbol:INVS semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch ncbigene:27130 semapv:UnspecifiedMatching +OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch MONDO:0009470 semapv:UnspecifiedMatching +OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch Orphanet:2995 semapv:UnspecifiedMatching +OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1853623 semapv:UnspecifiedMatching +OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1855722 semapv:UnspecifiedMatching +OMIM:243320 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch MONDO:0009471 semapv:UnspecifiedMatching +OMIM:243400 acetylation, slow skos:exactMatch MONDO:0009472 semapv:UnspecifiedMatching +OMIM:243440 isotretinoin embryopathy-like syndrome skos:exactMatch MONDO:0009473 semapv:UnspecifiedMatching +OMIM:243450 isovaleric acid, inability to smell skos:exactMatch MONDO:0009474 semapv:UnspecifiedMatching +OMIM:243500 isovaleric acidemia skos:exactMatch MONDO:0009475 semapv:UnspecifiedMatching +OMIM:243600 jejunal atresia skos:exactMatch MONDO:0009476 semapv:UnspecifiedMatching +OMIM:243605 stromme syndrome skos:exactMatch MONDO:0009477 semapv:UnspecifiedMatching +OMIM:243700 hyper-ige syndrome 2, autosomal recessive, with recurrent infections skos:exactMatch MONDO:0009478 semapv:UnspecifiedMatching +OMIM:243800 johanson-blizzard syndrome skos:exactMatch MONDO:0009479 semapv:UnspecifiedMatching +OMIM:243910 arima syndrome skos:exactMatch MONDO:0009480 semapv:UnspecifiedMatching +OMIM:243910 arima syndrome skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching +OMIM:243910 arima syndrome skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching +OMIM:244100 jumping frenchmen of maine skos:exactMatch MONDO:0009481 semapv:UnspecifiedMatching +OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch MONDO:0009482 semapv:UnspecifiedMatching +OMIM:244300 kapur-toriello syndrome skos:exactMatch MONDO:0009483 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch MONDO:0009484 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:98861 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4317124 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551720 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551906 semapv:UnspecifiedMatching +OMIM:244450 kaufman oculocerebrofacial syndrome skos:exactMatch MONDO:0009485 semapv:UnspecifiedMatching +OMIM:244460 kenny-caffey syndrome, iia 1 skos:exactMatch MONDO:0009486 semapv:UnspecifiedMatching +OMIM:244510 keratoconus and congenital hip dysplasia skos:exactMatch MONDO:0009487 semapv:UnspecifiedMatching +OMIM:244600 keratoconus posticus circumscriptus skos:exactMatch MONDO:0009488 semapv:UnspecifiedMatching +OMIM:244850 palmoplantar keratoderma, norrbotten recessive iia skos:exactMatch MONDO:0009489 semapv:UnspecifiedMatching +OMIM:245000 papillon-lefevre syndrome skos:exactMatch MONDO:0009490 semapv:UnspecifiedMatching +OMIM:245010 haim-munk syndrome skos:exactMatch MONDO:0009491 semapv:UnspecifiedMatching +OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch MONDO:0009492 semapv:UnspecifiedMatching +OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch Orphanet:832 semapv:UnspecifiedMatching +OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch UMLS:C0342792 semapv:UnspecifiedMatching +OMIM:245100 richards-rundle syndrome skos:exactMatch MONDO:0009493 semapv:UnspecifiedMatching +OMIM:245150 keutel syndrome skos:exactMatch MONDO:0009495 semapv:UnspecifiedMatching +OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch MONDO:0009496 semapv:UnspecifiedMatching +OMIM:245180 kifafa seizure disorder skos:exactMatch MONDO:0009497 semapv:UnspecifiedMatching +OMIM:245190 kniest-like dysplasia, lethal skos:exactMatch MONDO:0009498 semapv:UnspecifiedMatching +OMIM:245200 krabbe disease skos:exactMatch MONDO:0009499 semapv:UnspecifiedMatching +OMIM:245300 kuru, susceptibility to skos:exactMatch MONDO:0009500 semapv:UnspecifiedMatching +OMIM:245340 erythrocyte lactate transporter defect skos:exactMatch MONDO:0009501 semapv:UnspecifiedMatching +OMIM:245348 pyruvate dehydrogenase e2 deficiency skos:exactMatch MONDO:0009502 semapv:UnspecifiedMatching +OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency skos:exactMatch MONDO:0009503 semapv:UnspecifiedMatching +OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) skos:exactMatch MONDO:0009504 semapv:UnspecifiedMatching +OMIM:245450 d-lactic aciduria with gout skos:exactMatch MONDO:0009505 semapv:UnspecifiedMatching +OMIM:245450 d-lactic aciduria with gout skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching +OMIM:245480 specific granule deficiency 1 skos:exactMatch MONDO:0044207 semapv:UnspecifiedMatching +OMIM:245550 lambert syndrome skos:exactMatch MONDO:0009507 semapv:UnspecifiedMatching +OMIM:245552 lambotte syndrome skos:exactMatch MONDO:0009508 semapv:UnspecifiedMatching +OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development skos:exactMatch MONDO:0009509 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch MONDO:0100211 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C1855548 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching +OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch MONDO:0009511 semapv:UnspecifiedMatching +OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch Orphanet:284139 semapv:UnspecifiedMatching +OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching +OMIM:245650 larsen-like syndrome, lethal iia skos:exactMatch MONDO:0009512 semapv:UnspecifiedMatching +OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous skos:exactMatch MONDO:0009513 semapv:UnspecifiedMatching +OMIM:245800 laurence-moon syndrome skos:exactMatch MONDO:0009514 semapv:UnspecifiedMatching +OMIM:245900 lecithin:cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 semapv:UnspecifiedMatching +OMIM:246000 leg, absence deformity of, with congenital cataract skos:exactMatch MONDO:0009516 semapv:UnspecifiedMatching +OMIM:246200 donohue syndrome skos:exactMatch MONDO:0009517 semapv:UnspecifiedMatching +OMIM:246300 leprosy, susceptibility to, 3 skos:exactMatch MONDO:0009518 semapv:UnspecifiedMatching +OMIM:246400 letterer-siwe disease skos:exactMatch MONDO:0009519 semapv:UnspecifiedMatching +OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency skos:exactMatch MONDO:0009520 semapv:UnspecifiedMatching +OMIM:246470 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch MONDO:0009521 semapv:UnspecifiedMatching +OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis skos:exactMatch MONDO:0009522 semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch UMLS:C1416932 semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:6719 semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:LTC4S semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch ncbigene:4056 semapv:UnspecifiedMatching +OMIM:246550 lichtenstein syndrome skos:exactMatch MONDO:0009523 semapv:UnspecifiedMatching +OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity skos:exactMatch MONDO:0009524 semapv:UnspecifiedMatching +OMIM:246560 split-hand/foot malformation 3 skos:exactMatch MONDO:0009525 semapv:UnspecifiedMatching +OMIM:246570 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch MONDO:0009526 semapv:UnspecifiedMatching +OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:9155 semapv:UnspecifiedMatching +OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:PNLIP semapv:UnspecifiedMatching +OMIM:246600 PNLIP skos:exactMatch ncbigene:5406 semapv:UnspecifiedMatching +OMIM:246650 lipase deficiency, combined skos:exactMatch MONDO:0009527 semapv:UnspecifiedMatching +OMIM:246700 chylomicron retention disease skos:exactMatch MONDO:0009528 semapv:UnspecifiedMatching +OMIM:246900 dihydrolipoamide dehydrogenase deficiency skos:exactMatch MONDO:0009529 semapv:UnspecifiedMatching +OMIM:247100 lipoid proteinosis of urbach and wiethe skos:exactMatch MONDO:0009530 semapv:UnspecifiedMatching +OMIM:247150 lip prints skos:exactMatch MONDO:0009531 semapv:UnspecifiedMatching +OMIM:247200 miller-dieker lissencephaly syndrome skos:exactMatch MONDO:0009532 semapv:UnspecifiedMatching +OMIM:247410 lymphedema-hypoparathyroidism syndrome skos:exactMatch MONDO:0009533 semapv:UnspecifiedMatching +OMIM:247420 lutheran null skos:exactMatch MONDO:0044257 semapv:UnspecifiedMatching +OMIM:247430 lymphoblastic transformation, inhibition of skos:exactMatch MONDO:0009534 semapv:UnspecifiedMatching +OMIM:247440 skos:exactMatch MONDO:0009535 semapv:UnspecifiedMatching +OMIM:247450 lymphoblastic transformation, intrinsic defect 1n skos:exactMatch MONDO:0009536 semapv:UnspecifiedMatching +OMIM:247610 lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 semapv:UnspecifiedMatching +OMIM:247630 lymphoid system deterioration, progressive skos:exactMatch MONDO:0009538 semapv:UnspecifiedMatching +OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch MONDO:0009539 semapv:UnspecifiedMatching +OMIM:247650 lymphokine deficiency skos:exactMatch MONDO:0009540 semapv:UnspecifiedMatching +OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch MONDO:0009541 semapv:UnspecifiedMatching +OMIM:247950 lysine malabsorption syndrome skos:exactMatch MONDO:0009542 semapv:UnspecifiedMatching +OMIM:247980 LIPB skos:exactMatch hgnc.symbol:6618 semapv:UnspecifiedMatching +OMIM:247980 LIPB skos:exactMatch hgnc.symbol:LIPB semapv:UnspecifiedMatching +OMIM:247980 LIPB skos:exactMatch ncbigene:3989 semapv:UnspecifiedMatching +OMIM:247990 macdermot-winter syndrome skos:exactMatch MONDO:0009543 semapv:UnspecifiedMatching +OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch MONDO:0009544 semapv:UnspecifiedMatching +OMIM:248010 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch MONDO:0009545 semapv:UnspecifiedMatching +OMIM:248100 macrosomia adiposa congenita skos:exactMatch MONDO:0009546 semapv:UnspecifiedMatching +OMIM:248110 macrosomia with microphthalmia, lethal skos:exactMatch MONDO:0009547 semapv:UnspecifiedMatching +OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement skos:exactMatch MONDO:0009548 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch MONDO:0009549 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C4282180 semapv:UnspecifiedMatching +OMIM:248250 hypomagnesemia 3, renal skos:exactMatch MONDO:0009550 semapv:UnspecifiedMatching +OMIM:248260 magnesium, elevated red cell skos:exactMatch MONDO:0009551 semapv:UnspecifiedMatching +OMIM:248300 mal lange meleda skos:exactMatch MONDO:0009552 semapv:UnspecifiedMatching +OMIM:248310 plasmodium falciparum blood infection level skos:exactMatch MONDO:0009553 semapv:UnspecifiedMatching +OMIM:248340 3mc syndrome 3 skos:exactMatch MONDO:0009554 semapv:UnspecifiedMatching +OMIM:248350 malocclusion and short stature skos:exactMatch MONDO:0009555 semapv:UnspecifiedMatching +OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch MONDO:0009556 semapv:UnspecifiedMatching +OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch Orphanet:943 semapv:UnspecifiedMatching +OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching +OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy skos:exactMatch MONDO:0009557 semapv:UnspecifiedMatching +OMIM:248390 treacher collins syndrome 3 skos:exactMatch MONDO:0009558 semapv:UnspecifiedMatching +OMIM:248400 mandibulofacial dysostosis with mental retardation skos:exactMatch MONDO:0009559 semapv:UnspecifiedMatching +OMIM:248450 manitoba oculotrichoanal syndrome skos:exactMatch MONDO:0009560 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch MONDO:0009561 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309288 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching +OMIM:248510 mannosidosis, beta a, lysosomal skos:exactMatch MONDO:0009562 semapv:UnspecifiedMatching +OMIM:248600 maple syrup urine disease skos:exactMatch MONDO:0009563 semapv:UnspecifiedMatching +OMIM:248610 DBT skos:exactMatch hgnc.symbol:2698 semapv:UnspecifiedMatching +OMIM:248610 DBT skos:exactMatch hgnc.symbol:DBT semapv:UnspecifiedMatching +OMIM:248610 DBT skos:exactMatch ncbigene:1629 semapv:UnspecifiedMatching +OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:987 semapv:UnspecifiedMatching +OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:BCKDHB semapv:UnspecifiedMatching +OMIM:248611 BCKDHB skos:exactMatch ncbigene:594 semapv:UnspecifiedMatching +OMIM:248700 marden-walker syndrome skos:exactMatch MONDO:0009564 semapv:UnspecifiedMatching +OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis skos:exactMatch MONDO:0009565 semapv:UnspecifiedMatching +OMIM:248770 marfanoid mental retardation syndrome, autosomal skos:exactMatch MONDO:0009566 semapv:UnspecifiedMatching +OMIM:248800 marinesco-sjogren syndrome skos:exactMatch MONDO:0009567 semapv:UnspecifiedMatching +OMIM:248800 marinesco-sjogren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching +OMIM:248800 marinesco-sjogren syndrome skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching +OMIM:248900 mast syndrome skos:exactMatch MONDO:0009568 semapv:UnspecifiedMatching +OMIM:248900 mast syndrome skos:exactMatch Orphanet:101001 semapv:UnspecifiedMatching +OMIM:248900 mast syndrome skos:exactMatch UMLS:C1855346 semapv:UnspecifiedMatching +OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch MONDO:0009569 semapv:UnspecifiedMatching +OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch Orphanet:2135 semapv:UnspecifiedMatching +OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch UMLS:C3151493 semapv:UnspecifiedMatching +OMIM:248950 mcdonough syndrome skos:exactMatch MONDO:0009570 semapv:UnspecifiedMatching +OMIM:249000 meckel syndrome, iia 1 skos:exactMatch MONDO:0009571 semapv:UnspecifiedMatching +OMIM:249000 meckel syndrome, iia 1 skos:exactMatch Orphanet:564 semapv:UnspecifiedMatching +OMIM:249000 meckel syndrome, iia 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching +OMIM:249100 familial mediterranean fever skos:exactMatch MONDO:0009572 semapv:UnspecifiedMatching +OMIM:249100 familial mediterranean fever skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching +OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching +OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C5399837 semapv:UnspecifiedMatching +OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch MONDO:0100354 semapv:UnspecifiedMatching +OMIM:249230 megaepiphyseal dwarfism skos:exactMatch MONDO:0009573 semapv:UnspecifiedMatching +OMIM:249240 megalencephaly with dysmyelination skos:exactMatch MONDO:0009574 semapv:UnspecifiedMatching +OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch MONDO:0009575 semapv:UnspecifiedMatching +OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 semapv:UnspecifiedMatching +OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch UMLS:C0342287 semapv:UnspecifiedMatching +OMIM:249300 megalocornea skos:exactMatch MONDO:0009576 semapv:UnspecifiedMatching +OMIM:249310 neuhauser syndrome skos:exactMatch MONDO:0009577 semapv:UnspecifiedMatching +OMIM:249400 melanosis, neurocutaneous skos:exactMatch MONDO:0009578 semapv:UnspecifiedMatching +OMIM:249420 frank-ter haar syndrome skos:exactMatch MONDO:0009579 semapv:UnspecifiedMatching +OMIM:249500 intellectual developmental disorder, autosomal recessive 1 skos:exactMatch MONDO:0009580 semapv:UnspecifiedMatching +OMIM:249599 mental retardation syndrome, belgian iia skos:exactMatch MONDO:0009581 semapv:UnspecifiedMatching +OMIM:249600 mental retardation syndrome, mietens-weber iia skos:exactMatch MONDO:0009582 semapv:UnspecifiedMatching +OMIM:249620 ohdo syndrome skos:exactMatch MONDO:0009583 semapv:UnspecifiedMatching +OMIM:249630 mental retardation, buenos aires iia skos:exactMatch MONDO:0009584 semapv:UnspecifiedMatching +OMIM:249650 mercaptolactate-cysteine disulfiduria skos:exactMatch MONDO:0009585 semapv:UnspecifiedMatching +OMIM:249660 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch MONDO:0009586 semapv:UnspecifiedMatching +OMIM:249670 mesoaxial hexadactyly and cardiac malformation skos:exactMatch MONDO:0009587 semapv:UnspecifiedMatching +OMIM:249700 langer mesomelic dysplasia skos:exactMatch MONDO:0009588 semapv:UnspecifiedMatching +OMIM:249700 langer mesomelic dysplasia skos:exactMatch Orphanet:2632 semapv:UnspecifiedMatching +OMIM:249700 langer mesomelic dysplasia skos:exactMatch UMLS:C0432230 semapv:UnspecifiedMatching +OMIM:249710 mesomelic limb shortening and bowing skos:exactMatch MONDO:0009589 semapv:UnspecifiedMatching +OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch MONDO:0009590 semapv:UnspecifiedMatching +OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching +OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch UMLS:C0268262 semapv:UnspecifiedMatching +OMIM:250100 metachromatic leukodystrophy skos:exactMatch MONDO:0009591 semapv:UnspecifiedMatching +OMIM:250215 metaphyseal acroscyphodysplasia skos:exactMatch MONDO:0009592 semapv:UnspecifiedMatching +OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch MONDO:0009593 semapv:UnspecifiedMatching +OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch Orphanet:93317 semapv:UnspecifiedMatching +OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch UMLS:C1855229 semapv:UnspecifiedMatching +OMIM:250230 metaphyseal chondrodysplasia, kaitila iia skos:exactMatch MONDO:0009594 semapv:UnspecifiedMatching +OMIM:250250 cartilage-hair hypoplasia skos:exactMatch MONDO:0009595 semapv:UnspecifiedMatching +OMIM:250300 metaphyseal chondrodysplasia, pena iia skos:exactMatch MONDO:0009596 semapv:UnspecifiedMatching +OMIM:250400 metaphyseal dysplasia, spahr iia skos:exactMatch MONDO:0009597 semapv:UnspecifiedMatching +OMIM:250410 retinitis pigmentosa with or without skeletal anomalies skos:exactMatch MONDO:0009598 semapv:UnspecifiedMatching +OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness skos:exactMatch MONDO:0009599 semapv:UnspecifiedMatching +OMIM:250450 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch MONDO:0009600 semapv:UnspecifiedMatching +OMIM:250460 metaphyseal dysplasia without hypotrichosis skos:exactMatch MONDO:0009601 semapv:UnspecifiedMatching +OMIM:250500 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch MONDO:0009602 semapv:UnspecifiedMatching +OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency skos:exactMatch MONDO:0009603 semapv:UnspecifiedMatching +OMIM:250650 methane production skos:exactMatch MONDO:0044258 semapv:UnspecifiedMatching +OMIM:250700 methemoglobin reductase deficiency skos:exactMatch MONDO:0009604 semapv:UnspecifiedMatching +OMIM:250790 methemoglobinemia and ambiguous genitalia skos:exactMatch MONDO:0009605 semapv:UnspecifiedMatching +OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch MONDO:0009606 semapv:UnspecifiedMatching +OMIM:250850 methionine adenosyltransferase i/iii deficiency skos:exactMatch MONDO:0009607 semapv:UnspecifiedMatching +OMIM:250900 methionine malabsorption syndrome skos:exactMatch MONDO:0009608 semapv:UnspecifiedMatching +OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia skos:exactMatch MONDO:0009609 semapv:UnspecifiedMatching +OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch MONDO:0009610 semapv:UnspecifiedMatching +OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching +OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching +OMIM:250951 3-methylglutaconic aciduria, iia 4 skos:exactMatch MONDO:0009611 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch MONDO:0009612 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:27 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:289916 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:79312 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch UMLS:C1855114 semapv:UnspecifiedMatching +OMIM:251100 methylmalonic aciduria, cbla iia skos:exactMatch MONDO:0009613 semapv:UnspecifiedMatching +OMIM:251110 methylmalonic aciduria, cblb iia skos:exactMatch MONDO:0009614 semapv:UnspecifiedMatching +OMIM:251120 methylmalonyl-coa epimerase deficiency skos:exactMatch MONDO:0009615 semapv:UnspecifiedMatching +OMIM:251170 MVK skos:exactMatch hgnc.symbol:7530 semapv:UnspecifiedMatching +OMIM:251170 MVK skos:exactMatch hgnc.symbol:MVK semapv:UnspecifiedMatching +OMIM:251170 MVK skos:exactMatch ncbigene:4598 semapv:UnspecifiedMatching +OMIM:251190 microcephalic primordial dwarfism, toriello iia skos:exactMatch MONDO:0009616 semapv:UnspecifiedMatching +OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch MONDO:0009617 semapv:UnspecifiedMatching +OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching +OMIM:251220 microcephaly-cardiomyopathy skos:exactMatch MONDO:0009618 semapv:UnspecifiedMatching +OMIM:251230 microcephaly-micromelia syndrome skos:exactMatch MONDO:0009619 semapv:UnspecifiedMatching +OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia skos:exactMatch MONDO:0009620 semapv:UnspecifiedMatching +OMIM:251250 microcephaly with cervical spine fusion anomalies skos:exactMatch MONDO:0009621 semapv:UnspecifiedMatching +OMIM:251255 jawad syndrome skos:exactMatch MONDO:0009622 semapv:UnspecifiedMatching +OMIM:251260 nijmegen breakage syndrome skos:exactMatch MONDO:0009623 semapv:UnspecifiedMatching +OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 skos:exactMatch MONDO:0009624 semapv:UnspecifiedMatching +OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch MONDO:0009625 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch MONDO:0020789 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C3489725 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C4552078 semapv:UnspecifiedMatching +OMIM:251300 galloway-mowat syndrome 1 skos:exactMatch MONDO:0033005 semapv:UnspecifiedMatching +OMIM:251400 microcolon skos:exactMatch MONDO:0009628 semapv:UnspecifiedMatching +OMIM:251450 desbuquois dysplasia 1 skos:exactMatch MONDO:0009629 semapv:UnspecifiedMatching +OMIM:251450 desbuquois dysplasia 1 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching +OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C0432242 semapv:UnspecifiedMatching +OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching +OMIM:251505 microphthalmia, isolated, with coloboma 4 skos:exactMatch MONDO:0009630 semapv:UnspecifiedMatching +OMIM:251600 microphthalmia, isolated 1 skos:exactMatch MONDO:0009631 semapv:UnspecifiedMatching +OMIM:251700 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch MONDO:0009632 semapv:UnspecifiedMatching +OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch MONDO:0009633 semapv:UnspecifiedMatching +OMIM:251800 microtia with meatal atresia and conductive deafness skos:exactMatch MONDO:0009634 semapv:UnspecifiedMatching +OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis skos:exactMatch MONDO:0009635 semapv:UnspecifiedMatching +OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch MONDO:0009636 semapv:UnspecifiedMatching +OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy skos:exactMatch MONDO:0020714 semapv:UnspecifiedMatching +OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy skos:exactMatch UMLS:C5193007 semapv:UnspecifiedMatching +OMIM:251945 mitochondrial myopathy with a defect 1n mitochondrial-protein transport skos:exactMatch MONDO:0009638 semapv:UnspecifiedMatching +OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch MONDO:0016825 semapv:UnspecifiedMatching +OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch Orphanet:2597 semapv:UnspecifiedMatching +OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch UMLS:C1855033 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch MONDO:0100224 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching +OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch MONDO:0100294 semapv:UnspecifiedMatching +OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch Orphanet:3208 semapv:UnspecifiedMatching +OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1855008 semapv:UnspecifiedMatching +OMIM:252100 mohr syndrome skos:exactMatch MONDO:0009642 semapv:UnspecifiedMatching +OMIM:252150 molybdenum cofactor deficiency, complementation group a skos:exactMatch MONDO:0009643 semapv:UnspecifiedMatching +OMIM:252160 molybdenum cofactor deficiency, complementation group B skos:exactMatch MONDO:0009644 semapv:UnspecifiedMatching +OMIM:252250 monocyte chemotactic disorder skos:exactMatch MONDO:0009645 semapv:UnspecifiedMatching +OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch MONDO:0009646 semapv:UnspecifiedMatching +OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching +OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C1854978 semapv:UnspecifiedMatching +OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching +OMIM:252300 morquio syndrome c skos:exactMatch MONDO:0009647 semapv:UnspecifiedMatching +OMIM:252320 motor neuropathy, peripheral, with dysautonomia skos:exactMatch MONDO:0009648 semapv:UnspecifiedMatching +OMIM:252350 moyamoya disease 1 skos:exactMatch MONDO:0009649 semapv:UnspecifiedMatching +OMIM:252500 mucolipidosis 2 alpha/beta skos:exactMatch MONDO:0009650 semapv:UnspecifiedMatching +OMIM:252600 mucolipidosis 3 alpha/beta skos:exactMatch MONDO:0018931 semapv:UnspecifiedMatching +OMIM:252605 mucolipidosis 3 gamma skos:exactMatch MONDO:0009652 semapv:UnspecifiedMatching +OMIM:252650 mucolipidosis 4 skos:exactMatch MONDO:0009653 semapv:UnspecifiedMatching +OMIM:252700 skos:exactMatch MONDO:0009654 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch UMLS:C0026708 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch UMLS:C0086431 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch UMLS:C0086795 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch UMLS:C1442485 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch UMLS:C4016443 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch hgnc.symbol:5391 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch hgnc.symbol:IDUA semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch ncbigene:3425 semapv:UnspecifiedMatching +OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch MONDO:0009655 semapv:UnspecifiedMatching +OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:79269 semapv:UnspecifiedMatching +OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch UMLS:C0086647 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch MONDO:0009656 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:79270 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch UMLS:C0086648 semapv:UnspecifiedMatching +OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch MONDO:0009657 semapv:UnspecifiedMatching +OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:79271 semapv:UnspecifiedMatching +OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch UMLS:C0086649 semapv:UnspecifiedMatching +OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch MONDO:0009658 semapv:UnspecifiedMatching +OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:79272 semapv:UnspecifiedMatching +OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch UMLS:C0086650 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch MONDO:0009659 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:309297 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch UMLS:C0086651 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch MONDO:0009660 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:309310 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching +OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch MONDO:0009661 semapv:UnspecifiedMatching +OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching +OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching +OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch MONDO:0009662 semapv:UnspecifiedMatching +OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch Orphanet:584 semapv:UnspecifiedMatching +OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching +OMIM:253240 mucus inspissation of respiratory tract skos:exactMatch MONDO:0009663 semapv:UnspecifiedMatching +OMIM:253250 mulibrey nanism skos:exactMatch MONDO:0009664 semapv:UnspecifiedMatching +OMIM:253260 biotinidase deficiency skos:exactMatch MONDO:0009665 semapv:UnspecifiedMatching +OMIM:253260 biotinidase deficiency skos:exactMatch Orphanet:79241 semapv:UnspecifiedMatching +OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching +OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C1854698 semapv:UnspecifiedMatching +OMIM:253270 holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch MONDO:0009667 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching +OMIM:253290 multiple pterygium syndrome, lethal iia skos:exactMatch MONDO:0009668 semapv:UnspecifiedMatching +OMIM:253300 spinal muscular atrophy, iia 1 skos:exactMatch MONDO:0009669 semapv:UnspecifiedMatching +OMIM:253310 lethal congenital contracture syndrome 1 skos:exactMatch MONDO:0009670 semapv:UnspecifiedMatching +OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism skos:exactMatch MONDO:0009671 semapv:UnspecifiedMatching +OMIM:253400 spinal muscular atrophy, iia 3 skos:exactMatch MONDO:0009672 semapv:UnspecifiedMatching +OMIM:253550 spinal muscular atrophy, iia 2 skos:exactMatch MONDO:0009673 semapv:UnspecifiedMatching +OMIM:253590 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch MONDO:0009674 semapv:UnspecifiedMatching +OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch MONDO:0009675 semapv:UnspecifiedMatching +OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching +OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch UMLS:C1869123 semapv:UnspecifiedMatching +OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch MONDO:0009676 semapv:UnspecifiedMatching +OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch Orphanet:268 semapv:UnspecifiedMatching +OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching +OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 skos:exactMatch MONDO:0009677 semapv:UnspecifiedMatching +OMIM:253800 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 4 skos:exactMatch MONDO:0009678 semapv:UnspecifiedMatching +OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism skos:exactMatch MONDO:0009680 semapv:UnspecifiedMatching +OMIM:254090 ullrich congenital muscular dystrophy 1 skos:exactMatch MONDO:0009681 semapv:UnspecifiedMatching +OMIM:254100 muscular dystrophy, congenital, with rapid progression skos:exactMatch MONDO:0009682 semapv:UnspecifiedMatching +OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch MONDO:0009683 semapv:UnspecifiedMatching +OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch Orphanet:1878 semapv:UnspecifiedMatching +OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch UMLS:C0270968 semapv:UnspecifiedMatching +OMIM:254120 muscular hypertonia, lethal skos:exactMatch MONDO:0009684 semapv:UnspecifiedMatching +OMIM:254130 miyoshi muscular dystrophy 1 skos:exactMatch MONDO:0024545 semapv:UnspecifiedMatching +OMIM:254150 musk, inability to smell skos:exactMatch MONDO:0009686 semapv:UnspecifiedMatching +OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch MONDO:0009687 semapv:UnspecifiedMatching +OMIM:254200 myasthenia gravis skos:exactMatch MONDO:0009688 semapv:UnspecifiedMatching +OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic skos:exactMatch MONDO:0009689 semapv:UnspecifiedMatching +OMIM:254300 myasthenic syndrome, congenital, 10 skos:exactMatch MONDO:0009690 semapv:UnspecifiedMatching +OMIM:254400 mycosis fungoides skos:exactMatch MONDO:0009691 semapv:UnspecifiedMatching +OMIM:254450 myelofibrosis skos:exactMatch MONDO:0009692 semapv:UnspecifiedMatching +OMIM:254450 myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatching +OMIM:254450 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching +OMIM:254500 myeloma, multiple skos:exactMatch MONDO:0009693 semapv:UnspecifiedMatching +OMIM:254600 myeloperoxidase deficiency skos:exactMatch MONDO:0009694 semapv:UnspecifiedMatching +OMIM:254600 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching +OMIM:254600 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching +OMIM:254700 myeloproliferative disease, autosomal recessive skos:exactMatch MONDO:0009695 semapv:UnspecifiedMatching +OMIM:254770 epilepsy, myoclonic juvenile skos:exactMatch MONDO:0009696 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching +OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch MONDO:0009698 semapv:UnspecifiedMatching +OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching +OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching +OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure skos:exactMatch MONDO:0009699 semapv:UnspecifiedMatching +OMIM:254940 carey-fineman-ziter syndrome 1 skos:exactMatch MONDO:0800437 semapv:UnspecifiedMatching +OMIM:254950 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch MONDO:0009701 semapv:UnspecifiedMatching +OMIM:254960 myopathy due to malate-aspartate shuttle defect skos:exactMatch MONDO:0009702 semapv:UnspecifiedMatching +OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency skos:exactMatch MONDO:0009703 semapv:UnspecifiedMatching +OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced skos:exactMatch MONDO:0009704 semapv:UnspecifiedMatching +OMIM:255120 carnitine palmitoyltransferase 1 deficiency skos:exactMatch MONDO:0009705 semapv:UnspecifiedMatching +OMIM:255125 myopathy with lactic acidosis, hereditary skos:exactMatch MONDO:0009706 semapv:UnspecifiedMatching +OMIM:255140 myopathy with giant abnormal mitochondria skos:exactMatch MONDO:0009707 semapv:UnspecifiedMatching +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch MONDO:0009708 semapv:UnspecifiedMatching +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching +OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch MONDO:0009709 semapv:UnspecifiedMatching +OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch Orphanet:169186 semapv:UnspecifiedMatching +OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching +OMIM:255300 batten-turner congenital myopathy skos:exactMatch MONDO:0100468 semapv:UnspecifiedMatching +OMIM:255310 congenital myopathy 4a, autosomal dominant skos:exactMatch MONDO:0800341 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch MONDO:0009712 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching +OMIM:255500 myopia 18, autosomal recessive skos:exactMatch MONDO:0009713 semapv:UnspecifiedMatching +OMIM:255600 myosclerosis, autosomal recessive skos:exactMatch MONDO:0009714 semapv:UnspecifiedMatching +OMIM:255700 myotonia congenita, autosomal recessive skos:exactMatch MONDO:0009715 semapv:UnspecifiedMatching +OMIM:255710 myotonia with skeletal abnormalities and mental retardation skos:exactMatch MONDO:0009716 semapv:UnspecifiedMatching +OMIM:255800 schwartz-jampel syndrome, iia 1 skos:exactMatch MONDO:0100435 semapv:UnspecifiedMatching +OMIM:255900 myxedema skos:exactMatch MONDO:0009718 semapv:UnspecifiedMatching +OMIM:255960 myxoma, intracardiac skos:exactMatch MONDO:0009719 semapv:UnspecifiedMatching +OMIM:255990 nathalie syndrome skos:exactMatch MONDO:0009721 semapv:UnspecifiedMatching +OMIM:255995 congenital myopathy 13 skos:exactMatch MONDO:0009722 semapv:UnspecifiedMatching +OMIM:255995 congenital myopathy 13 skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching +OMIM:255995 congenital myopathy 13 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching +OMIM:256000 leigh syndrome skos:exactMatch MONDO:0009723 semapv:UnspecifiedMatching +OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch MONDO:0009724 semapv:UnspecifiedMatching +OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch Orphanet:2613 semapv:UnspecifiedMatching +OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching +OMIM:256030 nemaline myopathy 2 skos:exactMatch MONDO:0009725 semapv:UnspecifiedMatching +OMIM:256040 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch MONDO:0054698 semapv:UnspecifiedMatching +OMIM:256050 atelosteogenesis, iia 2 skos:exactMatch MONDO:0009727 semapv:UnspecifiedMatching +OMIM:256100 nephronophthisis 1 skos:exactMatch MONDO:0009728 semapv:UnspecifiedMatching +OMIM:256120 nephropathy, deafness, and hyperparathyroidism skos:exactMatch MONDO:0009729 semapv:UnspecifiedMatching +OMIM:256150 nephrosialidosis skos:exactMatch MONDO:0009738 semapv:UnspecifiedMatching +OMIM:256200 nephrosis with deafness and urinary tract and digital malformations skos:exactMatch MONDO:0009731 semapv:UnspecifiedMatching +OMIM:256300 nephrotic syndrome, iia 1 skos:exactMatch MONDO:0009732 semapv:UnspecifiedMatching +OMIM:256370 nephrotic syndrome, iia 4 skos:exactMatch MONDO:0009733 semapv:UnspecifiedMatching +OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch MONDO:0009734 semapv:UnspecifiedMatching +OMIM:256500 netherton syndrome skos:exactMatch MONDO:0009735 semapv:UnspecifiedMatching +OMIM:256520 neu-laxova syndrome 1 skos:exactMatch MONDO:0009736 semapv:UnspecifiedMatching +OMIM:256540 galactosialidosis skos:exactMatch MONDO:0009737 semapv:UnspecifiedMatching +OMIM:256550 neuraminidase deficiency skos:exactMatch MONDO:0009738 semapv:UnspecifiedMatching +OMIM:256600 neurodegeneration with brain iron accumulation 2a skos:exactMatch MONDO:0024457 semapv:UnspecifiedMatching +OMIM:256690 neurofaciodigitorenal syndrome skos:exactMatch MONDO:0009740 semapv:UnspecifiedMatching +OMIM:256700 neuroblastoma, susceptibility to, 1 skos:exactMatch MONDO:0009741 semapv:UnspecifiedMatching +OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome skos:exactMatch MONDO:0009742 semapv:UnspecifiedMatching +OMIM:256720 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch MONDO:0009743 semapv:UnspecifiedMatching +OMIM:256730 ceroid lipofuscinosis, neuronal, 1 skos:exactMatch MONDO:0009744 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch MONDO:0009745 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching +OMIM:256800 insensitivity to pain, congenital, with anhidrosis skos:exactMatch MONDO:0009746 semapv:UnspecifiedMatching +OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch MONDO:0009747 semapv:UnspecifiedMatching +OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive skos:exactMatch MONDO:0009748 semapv:UnspecifiedMatching +OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch MONDO:0009749 semapv:UnspecifiedMatching +OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch Orphanet:643 semapv:UnspecifiedMatching +OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching +OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching +OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch MONDO:0009750 semapv:UnspecifiedMatching +OMIM:256860 neuropathy, hereditary sensory, atypical skos:exactMatch MONDO:0009751 semapv:UnspecifiedMatching +OMIM:256870 neuropathy, painful skos:exactMatch MONDO:0009752 semapv:UnspecifiedMatching +OMIM:257000 neurovisceral storage disease with curvilinear bodies skos:exactMatch MONDO:0009753 semapv:UnspecifiedMatching +OMIM:257100 neutropenia, lethal congenital, with eosinophilia skos:exactMatch MONDO:0009754 semapv:UnspecifiedMatching +OMIM:257150 neutrophil actin dysfunction skos:exactMatch MONDO:0009755 semapv:UnspecifiedMatching +OMIM:257150 neutrophil actin dysfunction skos:exactMatch UMLS:C1850380 semapv:UnspecifiedMatching +OMIM:257200 niemann-pick disease, iia a skos:exactMatch MONDO:0009756 semapv:UnspecifiedMatching +OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch MONDO:0009757 semapv:UnspecifiedMatching +OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching +OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C0220756 semapv:UnspecifiedMatching +OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching +OMIM:257270 night blindness, congenital stationary, iia 1b skos:exactMatch MONDO:0009758 semapv:UnspecifiedMatching +OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch MONDO:0009759 semapv:UnspecifiedMatching +OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching +OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching +OMIM:257320 lissencephaly 2 skos:exactMatch MONDO:0009760 semapv:UnspecifiedMatching +OMIM:257350 nuchal bleb, familial skos:exactMatch MONDO:0009761 semapv:UnspecifiedMatching +OMIM:257400 nystagmus 8, congenital, autosomal recessive skos:exactMatch MONDO:0009762 semapv:UnspecifiedMatching +OMIM:257500 obesity-hypoventilation syndrome skos:exactMatch MONDO:0009763 semapv:UnspecifiedMatching +OMIM:257550 ocular motor apraxia skos:exactMatch MONDO:0009764 semapv:UnspecifiedMatching +OMIM:257600 ocular myopathy with curare sensitivity skos:exactMatch MONDO:0009765 semapv:UnspecifiedMatching +OMIM:257790 oculocerebral hypopigmentation syndrome of preus skos:exactMatch MONDO:0009766 semapv:UnspecifiedMatching +OMIM:257800 oculocerebral syndrome with hypopigmentation skos:exactMatch MONDO:0009767 semapv:UnspecifiedMatching +OMIM:257850 oculodentodigital dysplasia, autosomal recessive skos:exactMatch MONDO:0009768 semapv:UnspecifiedMatching +OMIM:257910 oculopalatocerebral syndrome skos:exactMatch MONDO:0009769 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch MONDO:0009770 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:2506 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:293843 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching +OMIM:257960 oculotrichodysplasia skos:exactMatch MONDO:0009771 semapv:UnspecifiedMatching +OMIM:257970 oculorenocerebellar syndrome skos:exactMatch MONDO:0009772 semapv:UnspecifiedMatching +OMIM:257980 odontoonychodermal dysplasia skos:exactMatch MONDO:0009773 semapv:UnspecifiedMatching +OMIM:257980 odontoonychodermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching +OMIM:257980 odontoonychodermal dysplasia skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching +OMIM:258040 oeis complex skos:exactMatch MONDO:0017919 semapv:UnspecifiedMatching +OMIM:258040 oeis complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching +OMIM:258040 oeis complex skos:exactMatch Orphanet:93929 semapv:UnspecifiedMatching +OMIM:258040 oeis complex skos:exactMatch UMLS:C1850321 semapv:UnspecifiedMatching +OMIM:258100 oguchi disease 1 skos:exactMatch MONDO:0009775 semapv:UnspecifiedMatching +OMIM:258150 spermatogenic failure 1 skos:exactMatch MONDO:0009776 semapv:UnspecifiedMatching +OMIM:258150 spermatogenic failure 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching +OMIM:258150 spermatogenic failure 1 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching +OMIM:258200 Oliver syndrome skos:exactMatch MONDO:0009777 semapv:UnspecifiedMatching +OMIM:258300 cerebellar ataxia and albinism skos:exactMatch MONDO:0009778 semapv:UnspecifiedMatching +OMIM:258315 omodysplasia 1 skos:exactMatch MONDO:0009779 semapv:UnspecifiedMatching +OMIM:258320 omphalocele-cleft palate syndrome, lethal skos:exactMatch MONDO:0009780 semapv:UnspecifiedMatching +OMIM:258360 onychotrichodysplasia and neutropenia skos:exactMatch MONDO:0009781 semapv:UnspecifiedMatching +OMIM:258400 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch MONDO:0009782 semapv:UnspecifiedMatching +OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch MONDO:0009783 semapv:UnspecifiedMatching +OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch Orphanet:254886 semapv:UnspecifiedMatching +OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching +OMIM:258470 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch MONDO:0009784 semapv:UnspecifiedMatching +OMIM:258480 opsismodysplasia skos:exactMatch MONDO:0009785 semapv:UnspecifiedMatching +OMIM:258480 opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching +OMIM:258480 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching +OMIM:258500 optic atrophy 6 skos:exactMatch MONDO:0009786 semapv:UnspecifiedMatching +OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch MONDO:0009787 semapv:UnspecifiedMatching +OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching +OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching +OMIM:258650 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:exactMatch MONDO:0009788 semapv:UnspecifiedMatching +OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:exactMatch MONDO:0009789 semapv:UnspecifiedMatching +OMIM:258700 opticocochleodentate degeneration skos:exactMatch MONDO:0009790 semapv:UnspecifiedMatching +OMIM:258800 oral sensibility, disturbance of skos:exactMatch MONDO:0009791 semapv:UnspecifiedMatching +OMIM:258840 oral and digital anomalies with ichthyosis skos:exactMatch MONDO:0009792 semapv:UnspecifiedMatching +OMIM:258850 orofaciodigital syndrome 3 skos:exactMatch MONDO:0009793 semapv:UnspecifiedMatching +OMIM:258860 orofaciodigital syndrome 4 skos:exactMatch MONDO:0009794 semapv:UnspecifiedMatching +OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch MONDO:0009795 semapv:UnspecifiedMatching +OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch Orphanet:141007 semapv:UnspecifiedMatching +OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch UMLS:C0796102 semapv:UnspecifiedMatching +OMIM:258870 gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 semapv:UnspecifiedMatching +OMIM:258900 orotic aciduria skos:exactMatch MONDO:0009797 semapv:UnspecifiedMatching +OMIM:259050 primrose syndrome skos:exactMatch MONDO:0009798 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch MONDO:0024546 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:1525 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:2796 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C0029411 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching +OMIM:259200 blount disease, adolescent skos:exactMatch MONDO:0009800 semapv:UnspecifiedMatching +OMIM:259250 osteodysplasia, familial, anderson iia skos:exactMatch MONDO:0009801 semapv:UnspecifiedMatching +OMIM:259270 osteodysplasty, precocious, of danks, mayne, and kozlowski skos:exactMatch MONDO:0009802 semapv:UnspecifiedMatching +OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts skos:exactMatch MONDO:0009803 semapv:UnspecifiedMatching +OMIM:259420 osteogenesis imperfecta, iia 3 skos:exactMatch MONDO:0009804 semapv:UnspecifiedMatching +OMIM:259440 osteogenesis imperfecta, iia 9 skos:exactMatch MONDO:0009805 semapv:UnspecifiedMatching +OMIM:259450 bruck syndrome 1 skos:exactMatch MONDO:0009806 semapv:UnspecifiedMatching +OMIM:259500 osteogenic sarcoma skos:exactMatch MONDO:0002629 semapv:UnspecifiedMatching +OMIM:259550 osteoid osteoma skos:exactMatch MONDO:0009808 semapv:UnspecifiedMatching +OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch MONDO:0009809 semapv:UnspecifiedMatching +OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching +OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching +OMIM:259610 osteolysis syndrome, recessive skos:exactMatch MONDO:0009810 semapv:UnspecifiedMatching +OMIM:259650 osteoma of middle ear skos:exactMatch MONDO:0009811 semapv:UnspecifiedMatching +OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch MONDO:0958177 semapv:UnspecifiedMatching +OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching +OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch UMLS:C0410422 semapv:UnspecifiedMatching +OMIM:259690 osteopenia and sparse hair skos:exactMatch MONDO:0009814 semapv:UnspecifiedMatching +OMIM:259700 osteopetrosis, autosomal recessive 1 skos:exactMatch MONDO:0009815 semapv:UnspecifiedMatching +OMIM:259710 osteopetrosis, autosomal recessive 2 skos:exactMatch MONDO:0009816 semapv:UnspecifiedMatching +OMIM:259720 osteopetrosis, autosomal recessive 5 skos:exactMatch MONDO:0009817 semapv:UnspecifiedMatching +OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch MONDO:0009818 semapv:UnspecifiedMatching +OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch Orphanet:2785 semapv:UnspecifiedMatching +OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch UMLS:C0345407 semapv:UnspecifiedMatching +OMIM:259750 osteoporosis, juvenile skos:exactMatch MONDO:0019409 semapv:UnspecifiedMatching +OMIM:259770 osteoporosis-pseudoglioma syndrome skos:exactMatch MONDO:0009820 semapv:UnspecifiedMatching +OMIM:259775 raine syndrome skos:exactMatch MONDO:0009821 semapv:UnspecifiedMatching +OMIM:259780 otoonychoperoneal syndrome skos:exactMatch MONDO:0009822 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch MONDO:0009823 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:93598 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching +OMIM:260000 hyperoxaluria, primary, iia 2 skos:exactMatch MONDO:0009824 semapv:UnspecifiedMatching +OMIM:260005 5-oxoprolinase deficiency skos:exactMatch MONDO:0009825 semapv:UnspecifiedMatching +OMIM:260100 pa polymorphism of alpha-2-globulin skos:exactMatch MONDO:0009826 semapv:UnspecifiedMatching +OMIM:260130 pachyonychia congenita, autosomal recessive skos:exactMatch MONDO:0009827 semapv:UnspecifiedMatching +OMIM:260150 palant cleft palate syndrome skos:exactMatch MONDO:0009828 semapv:UnspecifiedMatching +OMIM:260200 pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch MONDO:0009829 semapv:UnspecifiedMatching +OMIM:260300 parkinson disease 15, autosomal recessive early-onset skos:exactMatch MONDO:0009830 semapv:UnspecifiedMatching +OMIM:260350 pancreatic cancer skos:exactMatch MONDO:0015278 semapv:UnspecifiedMatching +OMIM:260350 pancreatic cancer skos:exactMatch Orphanet:1333 semapv:UnspecifiedMatching +OMIM:260350 pancreatic cancer skos:exactMatch UMLS:C0235974 semapv:UnspecifiedMatching +OMIM:260370 pancreatic agenesis 1 skos:exactMatch MONDO:0024547 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch MONDO:0044204 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C0272170 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C4692625 semapv:UnspecifiedMatching +OMIM:260470 subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 semapv:UnspecifiedMatching +OMIM:260480 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch MONDO:0009836 semapv:UnspecifiedMatching +OMIM:260500 papilloma of choroid plexus skos:exactMatch MONDO:0009837 semapv:UnspecifiedMatching +OMIM:260530 parana hard-skin syndrome skos:exactMatch MONDO:0009838 semapv:UnspecifiedMatching +OMIM:260540 parkinson-dementia syndrome skos:exactMatch MONDO:0009839 semapv:UnspecifiedMatching +OMIM:260555 partington-anderson syndrome skos:exactMatch MONDO:0009840 semapv:UnspecifiedMatching +OMIM:260565 peho syndrome skos:exactMatch MONDO:0009841 semapv:UnspecifiedMatching +OMIM:260570 immunodeficiency 108 with autoinflammation skos:exactMatch MONDO:0009842 semapv:UnspecifiedMatching +OMIM:260600 leukodystrophy, hypomyelinating, 3 skos:exactMatch MONDO:0009843 semapv:UnspecifiedMatching +OMIM:260650 pellagra-like syndrome skos:exactMatch MONDO:0009844 semapv:UnspecifiedMatching +OMIM:260660 cousin syndrome skos:exactMatch MONDO:0009845 semapv:UnspecifiedMatching +OMIM:260800 pentosuria skos:exactMatch MONDO:0009846 semapv:UnspecifiedMatching +OMIM:260900 pericardial effusion, chronic skos:exactMatch MONDO:0009847 semapv:UnspecifiedMatching +OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial skos:exactMatch MONDO:0009848 semapv:UnspecifiedMatching +OMIM:260920 hyper-igd syndrome skos:exactMatch MONDO:0009849 semapv:UnspecifiedMatching +OMIM:260950 periodontitis, chronic skos:exactMatch MONDO:0009850 semapv:UnspecifiedMatching +OMIM:260970 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch MONDO:0009851 semapv:UnspecifiedMatching +OMIM:261000 intrinsic factor deficiency skos:exactMatch MONDO:0009852 semapv:UnspecifiedMatching +OMIM:261000 intrinsic factor deficiency skos:exactMatch Orphanet:332 semapv:UnspecifiedMatching +OMIM:261000 intrinsic factor deficiency skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching +OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch MONDO:0100156 semapv:UnspecifiedMatching +OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching +OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4016819 semapv:UnspecifiedMatching +OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching +OMIM:261400 peroneus tertius muscle, absence of skos:exactMatch MONDO:0009854 semapv:UnspecifiedMatching +OMIM:261500 eosinophil peroxidase deficiency skos:exactMatch MONDO:0043364 semapv:UnspecifiedMatching +OMIM:261515 d-bifunctional protein deficiency skos:exactMatch MONDO:0009855 semapv:UnspecifiedMatching +OMIM:261540 peters-plus syndrome skos:exactMatch MONDO:0009856 semapv:UnspecifiedMatching +OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 skos:exactMatch MONDO:0009857 semapv:UnspecifiedMatching +OMIM:261560 pfeiffer-palm-teller syndrome skos:exactMatch MONDO:0009858 semapv:UnspecifiedMatching +OMIM:261575 phaver syndrome skos:exactMatch MONDO:0009859 semapv:UnspecifiedMatching +OMIM:261590 phenformin 4-hydroxylation skos:exactMatch MONDO:0009860 semapv:UnspecifiedMatching +OMIM:261600 phenylketonuria skos:exactMatch MONDO:0009861 semapv:UnspecifiedMatching +OMIM:261600 phenylketonuria skos:exactMatch Orphanet:2209 semapv:UnspecifiedMatching +OMIM:261600 phenylketonuria skos:exactMatch Orphanet:716 semapv:UnspecifiedMatching +OMIM:261600 phenylketonuria skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching +OMIM:261630 hyperphenylalaninemia, bh4-deficient, c skos:exactMatch MONDO:0009862 semapv:UnspecifiedMatching +OMIM:261640 hyperphenylalaninemia, bh4-deficient, a skos:exactMatch MONDO:0009863 semapv:UnspecifiedMatching +OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch MONDO:0009864 semapv:UnspecifiedMatching +OMIM:261670 glycogen storage disease 10 skos:exactMatch MONDO:0009865 semapv:UnspecifiedMatching +OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch MONDO:0009866 semapv:UnspecifiedMatching +OMIM:261740 glycogen storage disease of heart, lethal congenital skos:exactMatch MONDO:0009867 semapv:UnspecifiedMatching +OMIM:261750 glycogen storage disease ixb skos:exactMatch MONDO:0009868 semapv:UnspecifiedMatching +OMIM:261800 pierre robin syndrome skos:exactMatch MONDO:0009869 semapv:UnspecifiedMatching +OMIM:261900 pili torti, early-onset skos:exactMatch MONDO:0009870 semapv:UnspecifiedMatching +OMIM:261990 abnormal hair, joint laxity, and developmental delay skos:exactMatch MONDO:0009871 semapv:UnspecifiedMatching +OMIM:262000 bjornstad syndrome skos:exactMatch MONDO:0009872 semapv:UnspecifiedMatching +OMIM:262020 pilodental dysplasia with refractive errors skos:exactMatch MONDO:0009873 semapv:UnspecifiedMatching +OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities skos:exactMatch MONDO:0009874 semapv:UnspecifiedMatching +OMIM:262300 achromatopsia 3 skos:exactMatch MONDO:0009875 semapv:UnspecifiedMatching +OMIM:262400 isolated growth hormone deficiency, iia 1a skos:exactMatch MONDO:0009876 semapv:UnspecifiedMatching +OMIM:262500 laron syndrome skos:exactMatch MONDO:0009877 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch MONDO:0009878 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:90695 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:95494 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0242343 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching +OMIM:262650 kowarski syndrome skos:exactMatch MONDO:0009879 semapv:UnspecifiedMatching +OMIM:262700 pituitary hormone deficiency, combined, 4 skos:exactMatch MONDO:0009880 semapv:UnspecifiedMatching +OMIM:262710 pituitary dwarfism with large sella turcica skos:exactMatch MONDO:0009881 semapv:UnspecifiedMatching +OMIM:262800 plasma clot retraction factor, deficiency of skos:exactMatch MONDO:0009882 semapv:UnspecifiedMatching +OMIM:262850 alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 semapv:UnspecifiedMatching +OMIM:262875 platelet prostacyclin receptor defect skos:exactMatch MONDO:0009884 semapv:UnspecifiedMatching +OMIM:262890 scott syndrome skos:exactMatch MONDO:0009885 semapv:UnspecifiedMatching +OMIM:262900 pleoconial myopathy with salt craving skos:exactMatch MONDO:0009886 semapv:UnspecifiedMatching +OMIM:263000 interstitial pneumonitis, desquamative, familial skos:exactMatch MONDO:0009887 semapv:UnspecifiedMatching +OMIM:263100 polycystic kidney, cataract, and congenital blindness skos:exactMatch MONDO:0009888 semapv:UnspecifiedMatching +OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease skos:exactMatch MONDO:0033004 semapv:UnspecifiedMatching +OMIM:263210 gillessen-kaesbach-nishimura syndrome skos:exactMatch MONDO:0009890 semapv:UnspecifiedMatching +OMIM:263300 polycythemia vera skos:exactMatch MONDO:0009891 semapv:UnspecifiedMatching +OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch MONDO:0009892 semapv:UnspecifiedMatching +OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching +OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching +OMIM:263450 polydactyly, postaxial, iia a5 skos:exactMatch MONDO:0009893 semapv:UnspecifiedMatching +OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch MONDO:0009894 semapv:UnspecifiedMatching +OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching +OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch UMLS:C0024507 semapv:UnspecifiedMatching +OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies skos:exactMatch MONDO:0009895 semapv:UnspecifiedMatching +OMIM:263550 polymyoclonus, infantile skos:exactMatch MONDO:0009896 semapv:UnspecifiedMatching +OMIM:263570 polyglucosan body neuropathy, adult form skos:exactMatch MONDO:0009897 semapv:UnspecifiedMatching +OMIM:263600 polysaccharide, storage of unusual skos:exactMatch MONDO:0009898 semapv:UnspecifiedMatching +OMIM:263610 polyhydramnios, chronic idiopathic skos:exactMatch MONDO:0009899 semapv:UnspecifiedMatching +OMIM:263630 polysyndactyly with cardiac malformation skos:exactMatch MONDO:0009900 semapv:UnspecifiedMatching +OMIM:263650 bartsocas-papas syndrome 1 skos:exactMatch MONDO:0009901 semapv:UnspecifiedMatching +OMIM:263700 porphyria, congenital erythropoietic skos:exactMatch MONDO:0009902 semapv:UnspecifiedMatching +OMIM:263750 postaxial acrofacial dysostosis skos:exactMatch MONDO:0009903 semapv:UnspecifiedMatching +OMIM:263800 gitelman syndrome skos:exactMatch MONDO:0009904 semapv:UnspecifiedMatching +OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly skos:exactMatch MONDO:0009905 semapv:UnspecifiedMatching +OMIM:264050 prenatal bowing skos:exactMatch MONDO:0009906 semapv:UnspecifiedMatching +OMIM:264060 prepapillary vascular loops skos:exactMatch MONDO:0009907 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch MONDO:0009908 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:238583 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch UMLS:C1849700 semapv:UnspecifiedMatching +OMIM:264080 progesterone resistance skos:exactMatch MONDO:0009909 semapv:UnspecifiedMatching +OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch MONDO:0009910 semapv:UnspecifiedMatching +OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch Orphanet:3455 semapv:UnspecifiedMatching +OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch UMLS:C0406586 semapv:UnspecifiedMatching +OMIM:264110 prolactin deficiency, isolated skos:exactMatch MONDO:0009911 semapv:UnspecifiedMatching +OMIM:264120 prolactin deficiency with obesity and enlarged testes skos:exactMatch MONDO:0009912 semapv:UnspecifiedMatching +OMIM:264140 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness skos:exactMatch MONDO:0009913 semapv:UnspecifiedMatching +OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch MONDO:0009914 semapv:UnspecifiedMatching +OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 semapv:UnspecifiedMatching +OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch UMLS:C0432206 semapv:UnspecifiedMatching +OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies skos:exactMatch MONDO:0009915 semapv:UnspecifiedMatching +OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch MONDO:0009916 semapv:UnspecifiedMatching +OMIM:264350 pseudohypoaldosteronism, iia ib1, autosomal recessive skos:exactMatch MONDO:0009917 semapv:UnspecifiedMatching +OMIM:264420 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch MONDO:0009918 semapv:UnspecifiedMatching +OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch MONDO:0009919 semapv:UnspecifiedMatching +OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch Orphanet:2971 semapv:UnspecifiedMatching +OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching +OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies skos:exactMatch MONDO:0009920 semapv:UnspecifiedMatching +OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch MONDO:0009921 semapv:UnspecifiedMatching +OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch Orphanet:2166 semapv:UnspecifiedMatching +OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch UMLS:C1849649 semapv:UnspecifiedMatching +OMIM:264500 pseudouridinuria and mental defect skos:exactMatch MONDO:0009922 semapv:UnspecifiedMatching +OMIM:264600 pseudovaginal perineoscrotal hypospadias skos:exactMatch MONDO:0009923 semapv:UnspecifiedMatching +OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch MONDO:0020723 semapv:UnspecifiedMatching +OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching +OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch UMLS:C0268689 semapv:UnspecifiedMatching +OMIM:264800 pseudoxanthoma elasticum skos:exactMatch MONDO:0009925 semapv:UnspecifiedMatching +OMIM:264900 F11 skos:exactMatch hgnc.symbol:3529 semapv:UnspecifiedMatching +OMIM:264900 F11 skos:exactMatch hgnc.symbol:F11 semapv:UnspecifiedMatching +OMIM:264900 F11 skos:exactMatch ncbigene:2160 semapv:UnspecifiedMatching +OMIM:265000 multiple pterygium syndrome, escobar variant skos:exactMatch MONDO:0009926 semapv:UnspecifiedMatching +OMIM:265050 3mc syndrome 2 skos:exactMatch MONDO:0009927 semapv:UnspecifiedMatching +OMIM:265100 pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 semapv:UnspecifiedMatching +OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 skos:exactMatch MONDO:0009929 semapv:UnspecifiedMatching +OMIM:265140 pulmonary arteriovenous fistulas skos:exactMatch MONDO:0009930 semapv:UnspecifiedMatching +OMIM:265150 pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 semapv:UnspecifiedMatching +OMIM:265200 pulmonary bullae causing pneumothorax skos:exactMatch MONDO:0009932 semapv:UnspecifiedMatching +OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch MONDO:0009933 semapv:UnspecifiedMatching +OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch Orphanet:2414 semapv:UnspecifiedMatching +OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch UMLS:C1849554 semapv:UnspecifiedMatching +OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch MONDO:0009934 semapv:UnspecifiedMatching +OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 semapv:UnspecifiedMatching +OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching +OMIM:265400 pulmonary hypertension, primary, 5 skos:exactMatch MONDO:0009935 semapv:UnspecifiedMatching +OMIM:265430 pulmonary hypoplasia, primary skos:exactMatch MONDO:0009936 semapv:UnspecifiedMatching +OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant skos:exactMatch MONDO:0020713 semapv:UnspecifiedMatching +OMIM:265500 pulmonic stenosis skos:exactMatch MONDO:0009938 semapv:UnspecifiedMatching +OMIM:265600 pulmonic stenosis and congenital nephrosis skos:exactMatch MONDO:0009939 semapv:UnspecifiedMatching +OMIM:265800 pycnodysostosis skos:exactMatch MONDO:0009940 semapv:UnspecifiedMatching +OMIM:265850 pygmy skos:exactMatch MONDO:0009941 semapv:UnspecifiedMatching +OMIM:265880 pyknoachondrogenesis skos:exactMatch MONDO:0009942 semapv:UnspecifiedMatching +OMIM:265900 pyle disease skos:exactMatch MONDO:0009943 semapv:UnspecifiedMatching +OMIM:265900 pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatching +OMIM:265900 pyle disease skos:exactMatch UMLS:C0265294 semapv:UnspecifiedMatching +OMIM:265950 pyloric atresia skos:exactMatch MONDO:0009944 semapv:UnspecifiedMatching +OMIM:266100 epilepsy, early-onset, 4, vitamin b6-dependent skos:exactMatch MONDO:0020741 semapv:UnspecifiedMatching +OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to skos:exactMatch MONDO:0009946 semapv:UnspecifiedMatching +OMIM:266130 glutathione synthetase deficiency skos:exactMatch MONDO:0009947 semapv:UnspecifiedMatching +OMIM:266140 pyropoikilocytosis, hereditary skos:exactMatch MONDO:0009948 semapv:UnspecifiedMatching +OMIM:266150 pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 semapv:UnspecifiedMatching +OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch MONDO:0009950 semapv:UnspecifiedMatching +OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching +OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching +OMIM:266250 radiculoneuropathy, fatal neonatal skos:exactMatch MONDO:0009951 semapv:UnspecifiedMatching +OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia skos:exactMatch MONDO:0009952 semapv:UnspecifiedMatching +OMIM:266265 congenital disorder of glycosylation, iia iic skos:exactMatch MONDO:0009953 semapv:UnspecifiedMatching +OMIM:266270 ramon syndrome skos:exactMatch MONDO:0009954 semapv:UnspecifiedMatching +OMIM:266280 rapadilino syndrome skos:exactMatch MONDO:0009955 semapv:UnspecifiedMatching +OMIM:266300 skin/hair/eye pigmentation, variation in, 2 skos:exactMatch MONDO:0044259 semapv:UnspecifiedMatching +OMIM:266350 red skin pigment anomaly of new guinea skos:exactMatch MONDO:0009956 semapv:UnspecifiedMatching +OMIM:266400 reese retinal dysplasia skos:exactMatch MONDO:0009957 semapv:UnspecifiedMatching +OMIM:266500 refsum disease, classic skos:exactMatch MONDO:0009958 semapv:UnspecifiedMatching +OMIM:266510 peroxisome biogenesis disorder 3b skos:exactMatch MONDO:0009959 semapv:UnspecifiedMatching +OMIM:266600 inflammatory bowel disease (crohn disease) 1 skos:exactMatch MONDO:0009960 semapv:UnspecifiedMatching +OMIM:266600 inflammatory bowel disease (crohn disease) 1 skos:exactMatch UMLS:C0010346 semapv:UnspecifiedMatching +OMIM:266810 renal and mullerian duct hypoplasia skos:exactMatch MONDO:0009961 semapv:UnspecifiedMatching +OMIM:266900 senior-loken syndrome 1 skos:exactMatch MONDO:0009962 semapv:UnspecifiedMatching +OMIM:266910 renal dysplasia-limb defects syndrome skos:exactMatch MONDO:0009963 semapv:UnspecifiedMatching +OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch MONDO:0009964 semapv:UnspecifiedMatching +OMIM:267000 perlman syndrome skos:exactMatch MONDO:0009965 semapv:UnspecifiedMatching +OMIM:267010 meckel syndrome, iia 7 skos:exactMatch MONDO:0009966 semapv:UnspecifiedMatching +OMIM:267200 renal tubular acidosis 3 skos:exactMatch MONDO:0009967 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch MONDO:0009968 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C0403554 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching +OMIM:267400 renal, genital, and middle ear anomalies skos:exactMatch MONDO:0009969 semapv:UnspecifiedMatching +OMIM:267430 renal tubular dysgenesis skos:exactMatch MONDO:0009970 semapv:UnspecifiedMatching +OMIM:267450 respiratory distress syndrome 1n premature infants skos:exactMatch MONDO:0009971 semapv:UnspecifiedMatching +OMIM:267480 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch MONDO:0009972 semapv:UnspecifiedMatching +OMIM:267500 reticular dysgenesis skos:exactMatch MONDO:0009973 semapv:UnspecifiedMatching +OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch MONDO:0009974 semapv:UnspecifiedMatching +OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C0272199 semapv:UnspecifiedMatching +OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C4551514 semapv:UnspecifiedMatching +OMIM:267730 reticulum cell sarcoma skos:exactMatch MONDO:0009975 semapv:UnspecifiedMatching +OMIM:267740 retinal degeneration and epilepsy skos:exactMatch MONDO:0009976 semapv:UnspecifiedMatching +OMIM:267750 knobloch syndrome 1 skos:exactMatch MONDO:0800167 semapv:UnspecifiedMatching +OMIM:267750 knobloch syndrome 1 skos:exactMatch Orphanet:1571 semapv:UnspecifiedMatching +OMIM:267750 knobloch syndrome 1 skos:exactMatch UMLS:C1849409 semapv:UnspecifiedMatching +OMIM:267750 knobloch syndrome 1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching +OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma skos:exactMatch MONDO:0009978 semapv:UnspecifiedMatching +OMIM:267900 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch MONDO:0009980 semapv:UnspecifiedMatching +OMIM:268000 retinitis pigmentosa skos:exactMatch MONDO:0019200 semapv:UnspecifiedMatching +OMIM:268000 retinitis pigmentosa skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:268000 retinitis pigmentosa skos:exactMatch UMLS:C0035334 semapv:UnspecifiedMatching +OMIM:268010 retinitis pigmentosa inversa with deafness skos:exactMatch MONDO:0009982 semapv:UnspecifiedMatching +OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism skos:exactMatch MONDO:0009983 semapv:UnspecifiedMatching +OMIM:268025 retinitis pigmentosa, late-adult onset skos:exactMatch MONDO:0009984 semapv:UnspecifiedMatching +OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch MONDO:0009985 semapv:UnspecifiedMatching +OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch Orphanet:3087 semapv:UnspecifiedMatching +OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch UMLS:C1849399 semapv:UnspecifiedMatching +OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch MONDO:0009986 semapv:UnspecifiedMatching +OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch Orphanet:3084 semapv:UnspecifiedMatching +OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch UMLS:C0796072 semapv:UnspecifiedMatching +OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive skos:exactMatch MONDO:0009987 semapv:UnspecifiedMatching +OMIM:268080 retinoschisis of fovea skos:exactMatch MONDO:0009988 semapv:UnspecifiedMatching +OMIM:268100 enhanced s-cone syndrome skos:exactMatch MONDO:0100288 semapv:UnspecifiedMatching +OMIM:268130 revesz syndrome skos:exactMatch MONDO:0009990 semapv:UnspecifiedMatching +OMIM:268150 rh-null, regulator iia skos:exactMatch MONDO:0019107 semapv:UnspecifiedMatching +OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch MONDO:0009992 semapv:UnspecifiedMatching +OMIM:268210 rhabdomyosarcoma, embryonal, 1 skos:exactMatch MONDO:0009993 semapv:UnspecifiedMatching +OMIM:268220 rhabdomyosarcoma 2 skos:exactMatch MONDO:0009994 semapv:UnspecifiedMatching +OMIM:268240 rheumatic fever-related antigen skos:exactMatch MONDO:0009995 semapv:UnspecifiedMatching +OMIM:268250 rhizomelic syndrome skos:exactMatch MONDO:0009996 semapv:UnspecifiedMatching +OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch MONDO:0100253 semapv:UnspecifiedMatching +OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch Orphanet:3103 semapv:UnspecifiedMatching +OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch UMLS:C0392475 semapv:UnspecifiedMatching +OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch MONDO:0009998 semapv:UnspecifiedMatching +OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch Orphanet:3102 semapv:UnspecifiedMatching +OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch UMLS:C1849348 semapv:UnspecifiedMatching +OMIM:268310 robinow syndrome, autosomal recessive 1 skos:exactMatch MONDO:0009999 semapv:UnspecifiedMatching +OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction skos:exactMatch MONDO:0010000 semapv:UnspecifiedMatching +OMIM:268320 rodrigues blindness skos:exactMatch MONDO:0010001 semapv:UnspecifiedMatching +OMIM:268400 rothmund-thomson syndrome, iia 2 skos:exactMatch MONDO:0016369 semapv:UnspecifiedMatching +OMIM:268500 rowley-rosenberg syndrome skos:exactMatch MONDO:0010003 semapv:UnspecifiedMatching +OMIM:268650 rudiger syndrome skos:exactMatch MONDO:0010004 semapv:UnspecifiedMatching +OMIM:268700 saccharopinuria skos:exactMatch MONDO:0010005 semapv:UnspecifiedMatching +OMIM:268700 saccharopinuria skos:exactMatch Orphanet:3124 semapv:UnspecifiedMatching +OMIM:268700 saccharopinuria skos:exactMatch UMLS:C0268556 semapv:UnspecifiedMatching +OMIM:268800 sandhoff disease skos:exactMatch MONDO:0010006 semapv:UnspecifiedMatching +OMIM:268850 richieri-costa/guion-almeida syndrome skos:exactMatch MONDO:0010007 semapv:UnspecifiedMatching +OMIM:268900 sarcosinemia skos:exactMatch MONDO:0010008 semapv:UnspecifiedMatching +OMIM:269150 schinzel-giedion midface retraction syndrome skos:exactMatch MONDO:0010010 semapv:UnspecifiedMatching +OMIM:269160 schizencephaly skos:exactMatch MONDO:0010011 semapv:UnspecifiedMatching +OMIM:269200 autoimmune polyendocrine syndrome, iia 2 skos:exactMatch MONDO:0010012 semapv:UnspecifiedMatching +OMIM:269250 schneckenbecken dysplasia skos:exactMatch MONDO:0010013 semapv:UnspecifiedMatching +OMIM:269300 craniometadiaphyseal dysplasia skos:exactMatch MONDO:0010014 semapv:UnspecifiedMatching +OMIM:269400 anterior segment dysgenesis 7 skos:exactMatch MONDO:0010015 semapv:UnspecifiedMatching +OMIM:269500 sclerosteosis 1 skos:exactMatch MONDO:0010016 semapv:UnspecifiedMatching +OMIM:269600 sea-blue histiocyte disease skos:exactMatch MONDO:0010017 semapv:UnspecifiedMatching +OMIM:269630 second metatarsal-metacarpal syndrome skos:exactMatch MONDO:0010018 semapv:UnspecifiedMatching +OMIM:269650 secretory component deficiency skos:exactMatch MONDO:0010019 semapv:UnspecifiedMatching +OMIM:269700 lipodystrophy, congenital generalized, iia 2 skos:exactMatch MONDO:0010020 semapv:UnspecifiedMatching +OMIM:269720 seizures, benign familial neonatal, autosomal recessive skos:exactMatch MONDO:0010021 semapv:UnspecifiedMatching +OMIM:269800 senile plaque formation skos:exactMatch MONDO:0010022 semapv:UnspecifiedMatching +OMIM:269840 immunodeficiency 48 skos:exactMatch MONDO:0010023 semapv:UnspecifiedMatching +OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch MONDO:0010024 semapv:UnspecifiedMatching +OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch Orphanet:93268 semapv:UnspecifiedMatching +OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch UMLS:C0432198 semapv:UnspecifiedMatching +OMIM:269870 short stature-obesity syndrome skos:exactMatch MONDO:0010025 semapv:UnspecifiedMatching +OMIM:269880 short syndrome skos:exactMatch MONDO:0010026 semapv:UnspecifiedMatching +OMIM:269920 infantile sialic acid storage disease skos:exactMatch MONDO:0010027 semapv:UnspecifiedMatching +OMIM:269921 sialuria skos:exactMatch MONDO:0010028 semapv:UnspecifiedMatching +OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch MONDO:0700112 semapv:UnspecifiedMatching +OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching +OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C0037221 semapv:UnspecifiedMatching +OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C3495537 semapv:UnspecifiedMatching +OMIM:270150 sjogren syndrome skos:exactMatch MONDO:0010030 semapv:UnspecifiedMatching +OMIM:270150 sjogren syndrome skos:exactMatch Orphanet:289390 semapv:UnspecifiedMatching +OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C0086981 semapv:UnspecifiedMatching +OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C1527336 semapv:UnspecifiedMatching +OMIM:270200 sjogren-larsson syndrome skos:exactMatch MONDO:0010031 semapv:UnspecifiedMatching +OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement skos:exactMatch MONDO:0010032 semapv:UnspecifiedMatching +OMIM:270300 peeling skin syndrome 1 skos:exactMatch MONDO:0024548 semapv:UnspecifiedMatching +OMIM:270350 anosmia for butyl mercaptan skos:exactMatch MONDO:0010034 semapv:UnspecifiedMatching +OMIM:270400 smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 semapv:UnspecifiedMatching +OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies skos:exactMatch MONDO:0010036 semapv:UnspecifiedMatching +OMIM:270425 sodium-potassium-atpase activity of red cell skos:exactMatch MONDO:0010037 semapv:UnspecifiedMatching +OMIM:270450 insulin-like growth factor i, resistance to skos:exactMatch MONDO:0010038 semapv:UnspecifiedMatching +OMIM:270460 sonoda syndrome skos:exactMatch MONDO:0010039 semapv:UnspecifiedMatching +OMIM:270500 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation skos:exactMatch MONDO:0010040 semapv:UnspecifiedMatching +OMIM:270550 spastic ataxia, charlevoix-saguenay iia skos:exactMatch MONDO:0010041 semapv:UnspecifiedMatching +OMIM:270600 spastic diplegia and impaired intellectual development skos:exactMatch MONDO:0010042 semapv:UnspecifiedMatching +OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch MONDO:0010043 semapv:UnspecifiedMatching +OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch Orphanet:100998 semapv:UnspecifiedMatching +OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching +OMIM:270700 spastic paraplegia 15, autosomal recessive skos:exactMatch MONDO:0010044 semapv:UnspecifiedMatching +OMIM:270710 skos:exactMatch MONDO:0010045 semapv:UnspecifiedMatching +OMIM:270750 spastic paraplegia 23, autosomal recessive skos:exactMatch MONDO:0010046 semapv:UnspecifiedMatching +OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch MONDO:0010047 semapv:UnspecifiedMatching +OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch Orphanet:100986 semapv:UnspecifiedMatching +OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching +OMIM:270805 spastic paraplegia with myoclonic epilepsy skos:exactMatch MONDO:0010048 semapv:UnspecifiedMatching +OMIM:270850 spastic paresis, glaucoma, and mental retardation skos:exactMatch MONDO:0010049 semapv:UnspecifiedMatching +OMIM:270900 spastic pseudosclerosis skos:exactMatch MONDO:0010050 semapv:UnspecifiedMatching +OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation skos:exactMatch MONDO:0010051 semapv:UnspecifiedMatching +OMIM:270960 spermatogenic failure 4 skos:exactMatch MONDO:0010052 semapv:UnspecifiedMatching +OMIM:270970 spherocytosis, iia 3 skos:exactMatch MONDO:0010053 semapv:UnspecifiedMatching +OMIM:271109 spinal muscular atrophy with mental retardation skos:exactMatch MONDO:0010054 semapv:UnspecifiedMatching +OMIM:271110 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch MONDO:0010055 semapv:UnspecifiedMatching +OMIM:271150 spinal muscular atrophy, iia 4 skos:exactMatch MONDO:0010056 semapv:UnspecifiedMatching +OMIM:271200 spinal muscular atrophy, ryukyuan iia skos:exactMatch MONDO:0010057 semapv:UnspecifiedMatching +OMIM:271220 spinal muscular atrophy, scapuloperoneal skos:exactMatch MONDO:0010058 semapv:UnspecifiedMatching +OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch MONDO:0010060 semapv:UnspecifiedMatching +OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 skos:exactMatch MONDO:0010061 semapv:UnspecifiedMatching +OMIM:271270 spinocerebellar ataxia with dysmorphism skos:exactMatch MONDO:0010062 semapv:UnspecifiedMatching +OMIM:271310 spinocerebellar degeneration and corneal dystrophy skos:exactMatch MONDO:0010063 semapv:UnspecifiedMatching +OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia skos:exactMatch MONDO:0010064 semapv:UnspecifiedMatching +OMIM:271322 spinocerebellar degeneration with slow eye movements skos:exactMatch MONDO:0010065 semapv:UnspecifiedMatching +OMIM:271400 asplenia, isolated congenital skos:exactMatch MONDO:0010066 semapv:UnspecifiedMatching +OMIM:271500 splenoportal vascular anomalies skos:exactMatch MONDO:0010067 semapv:UnspecifiedMatching +OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch MONDO:0010068 semapv:UnspecifiedMatching +OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch Orphanet:93357 semapv:UnspecifiedMatching +OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch UMLS:C1300260 semapv:UnspecifiedMatching +OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies skos:exactMatch MONDO:0010069 semapv:UnspecifiedMatching +OMIM:271530 brachyolmia iia 1, hobaek iia skos:exactMatch MONDO:0010070 semapv:UnspecifiedMatching +OMIM:271600 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch MONDO:0010072 semapv:UnspecifiedMatching +OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation skos:exactMatch MONDO:0010073 semapv:UnspecifiedMatching +OMIM:271630 brachyolmia iia 1, toledo iia skos:exactMatch MONDO:0010074 semapv:UnspecifiedMatching +OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch MONDO:0010075 semapv:UnspecifiedMatching +OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch Orphanet:93359 semapv:UnspecifiedMatching +OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch UMLS:C0432243 semapv:UnspecifiedMatching +OMIM:271650 spondyloepimetaphyseal dysplasia, irapa iia skos:exactMatch MONDO:0010076 semapv:UnspecifiedMatching +OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch MONDO:0010077 semapv:UnspecifiedMatching +OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch Orphanet:93358 semapv:UnspecifiedMatching +OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch UMLS:C1849011 semapv:UnspecifiedMatching +OMIM:271700 spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 semapv:UnspecifiedMatching +OMIM:271900 canavan disease skos:exactMatch MONDO:0010079 semapv:UnspecifiedMatching +OMIM:271930 striatonigral degeneration, infantile skos:exactMatch MONDO:0010080 semapv:UnspecifiedMatching +OMIM:271950 subaortic stenosis, membranous skos:exactMatch MONDO:0010081 semapv:UnspecifiedMatching +OMIM:271960 subaortic stenosis--short stature syndrome skos:exactMatch MONDO:0010082 semapv:UnspecifiedMatching +OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 semapv:UnspecifiedMatching +OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching +OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching +OMIM:272000 sucrosuria, hiatus hernia, and impaired intellectual development skos:exactMatch MONDO:0010084 semapv:UnspecifiedMatching +OMIM:272100 sudanophilic cerebral sclerosis skos:exactMatch MONDO:0010085 semapv:UnspecifiedMatching +OMIM:272120 sudden infant death syndrome skos:exactMatch MONDO:0010086 semapv:UnspecifiedMatching +OMIM:272150 sugarman brachydactyly skos:exactMatch MONDO:0010087 semapv:UnspecifiedMatching +OMIM:272200 multiple sulfatase deficiency skos:exactMatch MONDO:0010088 semapv:UnspecifiedMatching +OMIM:272200 multiple sulfatase deficiency skos:exactMatch Orphanet:585 semapv:UnspecifiedMatching +OMIM:272200 multiple sulfatase deficiency skos:exactMatch UMLS:C0268263 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch MONDO:0010089 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:833 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching +OMIM:272350 summitt syndrome skos:exactMatch MONDO:0010090 semapv:UnspecifiedMatching +OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch MONDO:0010091 semapv:UnspecifiedMatching +OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching +OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1832409 semapv:UnspecifiedMatching +OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1848947 semapv:UnspecifiedMatching +OMIM:272440 filippi syndrome skos:exactMatch MONDO:0010092 semapv:UnspecifiedMatching +OMIM:272450 syndesmodysplasic dwarfism skos:exactMatch MONDO:0010093 semapv:UnspecifiedMatching +OMIM:272460 spondylocarpotarsal synostosis syndrome skos:exactMatch MONDO:0010094 semapv:UnspecifiedMatching +OMIM:272600 tapetoretinal degeneration with ataxia skos:exactMatch MONDO:0010095 semapv:UnspecifiedMatching +OMIM:272620 tardive dyskinesia skos:exactMatch MONDO:0010096 semapv:UnspecifiedMatching +OMIM:272650 tatsumi factor deficiency skos:exactMatch MONDO:0010097 semapv:UnspecifiedMatching +OMIM:272700 taurodontism skos:exactMatch MONDO:0010098 semapv:UnspecifiedMatching +OMIM:272750 gm2-gangliosidosis, ab variant skos:exactMatch MONDO:0010099 semapv:UnspecifiedMatching +OMIM:272800 tay-sachs disease skos:exactMatch MONDO:0010100 semapv:UnspecifiedMatching +OMIM:272950 teebi-shaltout syndrome skos:exactMatch MONDO:0010101 semapv:UnspecifiedMatching +OMIM:272950 teebi-shaltout syndrome skos:exactMatch Orphanet:3291 semapv:UnspecifiedMatching +OMIM:272950 teebi-shaltout syndrome skos:exactMatch UMLS:C1848912 semapv:UnspecifiedMatching +OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair skos:exactMatch MONDO:0010102 semapv:UnspecifiedMatching +OMIM:273000 teeth, fused skos:exactMatch MONDO:0010103 semapv:UnspecifiedMatching +OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum skos:exactMatch MONDO:0010104 semapv:UnspecifiedMatching +OMIM:273120 teratoma, pineal skos:exactMatch MONDO:0010105 semapv:UnspecifiedMatching +OMIM:273150 testes, rudimentary skos:exactMatch MONDO:0010106 semapv:UnspecifiedMatching +OMIM:273250 46,xy sex reversal 11 skos:exactMatch MONDO:8000015 semapv:UnspecifiedMatching +OMIM:273250 46,xy sex reversal 11 skos:exactMatch Orphanet:983 semapv:UnspecifiedMatching +OMIM:273250 46,xy sex reversal 11 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching +OMIM:273300 testicular germ cell tumor skos:exactMatch MONDO:0010108 semapv:UnspecifiedMatching +OMIM:273390 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch MONDO:0010109 semapv:UnspecifiedMatching +OMIM:273395 tetraamelia syndrome 1 skos:exactMatch MONDO:0060764 semapv:UnspecifiedMatching +OMIM:273400 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities skos:exactMatch MONDO:0010111 semapv:UnspecifiedMatching +OMIM:273490 thalamic degeneration, symmetric infantile skos:exactMatch MONDO:0010112 semapv:UnspecifiedMatching +OMIM:273600 thalidomide susceptibility skos:exactMatch MONDO:0010113 semapv:UnspecifiedMatching +OMIM:273680 thanatophoric dysplasia, glasgow variant skos:exactMatch MONDO:0010114 semapv:UnspecifiedMatching +OMIM:273730 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch MONDO:0010115 semapv:UnspecifiedMatching +OMIM:273740 thoracomelic dysplasia skos:exactMatch MONDO:0010116 semapv:UnspecifiedMatching +OMIM:273750 three m syndrome 1 skos:exactMatch MONDO:0010117 semapv:UnspecifiedMatching +OMIM:273770 threoninemia skos:exactMatch MONDO:0010118 semapv:UnspecifiedMatching +OMIM:273800 glanzmann thrombasthenia 1 skos:exactMatch MONDO:0031332 semapv:UnspecifiedMatching +OMIM:273900 thrombocytopenia 3 skos:exactMatch MONDO:0010120 semapv:UnspecifiedMatching +OMIM:273900 thrombocytopenia 3 skos:exactMatch Orphanet:168629 semapv:UnspecifiedMatching +OMIM:273900 thrombocytopenia 3 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching +OMIM:273900 thrombocytopenia 3 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching +OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch MONDO:0010121 semapv:UnspecifiedMatching +OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 semapv:UnspecifiedMatching +OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch UMLS:C0175703 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch MONDO:0010122 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:54057 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:93583 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1956258 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch UMLS:C1420620 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch UMLS:C4016444 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:11609 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:TBXAS1 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch ncbigene:6916 semapv:UnspecifiedMatching +OMIM:274190 thumb agenesis, short stature, and immunodeficiency skos:exactMatch MONDO:0010123 semapv:UnspecifiedMatching +OMIM:274200 thumb, distal hyperextensibility of skos:exactMatch MONDO:0010124 semapv:UnspecifiedMatching +OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness skos:exactMatch MONDO:0010125 semapv:UnspecifiedMatching +OMIM:274210 thymic aplasia with fetal death skos:exactMatch MONDO:0010126 semapv:UnspecifiedMatching +OMIM:274230 thymoma, familial skos:exactMatch MONDO:0010127 semapv:UnspecifiedMatching +OMIM:274240 thyrocerebroretinal syndrome skos:exactMatch MONDO:0010128 semapv:UnspecifiedMatching +OMIM:274265 thymic-renal-anal-lung dysplasia skos:exactMatch MONDO:0010129 semapv:UnspecifiedMatching +OMIM:274270 dihydropyrimidine dehydrogenase deficiency skos:exactMatch MONDO:0010130 semapv:UnspecifiedMatching +OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch MONDO:0010131 semapv:UnspecifiedMatching +OMIM:274400 thyroid dyshormonogenesis 1 skos:exactMatch MONDO:0020716 semapv:UnspecifiedMatching +OMIM:274500 thyroid dyshormonogenesis 2a skos:exactMatch MONDO:0010133 semapv:UnspecifiedMatching +OMIM:274600 pendred syndrome skos:exactMatch MONDO:0010134 semapv:UnspecifiedMatching +OMIM:274700 thyroid dyshormonogenesis 3 skos:exactMatch MONDO:0010135 semapv:UnspecifiedMatching +OMIM:274800 thyroid dyshormonogenesis 4 skos:exactMatch MONDO:0010136 semapv:UnspecifiedMatching +OMIM:274900 thyroid dyshormonogenesis 5 skos:exactMatch MONDO:0010137 semapv:UnspecifiedMatching +OMIM:275000 graves disease skos:exactMatch MONDO:0100489 semapv:UnspecifiedMatching +OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 skos:exactMatch MONDO:0010139 semapv:UnspecifiedMatching +OMIM:275120 thyrotropin-releasing hormone deficiency skos:exactMatch MONDO:0010140 semapv:UnspecifiedMatching +OMIM:275190 tiglic acidemia skos:exactMatch MONDO:0010141 semapv:UnspecifiedMatching +OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 skos:exactMatch MONDO:0010142 semapv:UnspecifiedMatching +OMIM:275210 restrictive dermopathy 1 skos:exactMatch MONDO:0800042 semapv:UnspecifiedMatching +OMIM:275220 tibial hemimelia skos:exactMatch MONDO:0010144 semapv:UnspecifiedMatching +OMIM:275230 tibia, absence of, with congenital deafness skos:exactMatch MONDO:0010145 semapv:UnspecifiedMatching +OMIM:275240 tinea imbricata, susceptibility to skos:exactMatch MONDO:0010146 semapv:UnspecifiedMatching +OMIM:275250 tongue, pigmented fungiform papillae of skos:exactMatch MONDO:0010147 semapv:UnspecifiedMatching +OMIM:275300 tracheobronchomegaly skos:exactMatch MONDO:0010148 semapv:UnspecifiedMatching +OMIM:275350 transcobalamin 2 deficiency skos:exactMatch MONDO:0010149 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch MONDO:0010150 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494547 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494550 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500464 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500481 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502363 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502366 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch UMLS:C1168401 semapv:UnspecifiedMatching +OMIM:275360 TREH skos:exactMatch hgnc.symbol:12266 semapv:UnspecifiedMatching +OMIM:275360 TREH skos:exactMatch hgnc.symbol:TREH semapv:UnspecifiedMatching +OMIM:275360 TREH skos:exactMatch ncbigene:11181 semapv:UnspecifiedMatching +OMIM:275370 tricarboxylic acid cycle, defect of skos:exactMatch MONDO:0010151 semapv:UnspecifiedMatching +OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch MONDO:0010152 semapv:UnspecifiedMatching +OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch Orphanet:3363 semapv:UnspecifiedMatching +OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch UMLS:C1848745 semapv:UnspecifiedMatching +OMIM:275450 trichoodontoonychial dysplasia with bone deficiency skos:exactMatch MONDO:0010153 semapv:UnspecifiedMatching +OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet skos:exactMatch MONDO:0010154 semapv:UnspecifiedMatching +OMIM:275630 chanarin-dorfman syndrome skos:exactMatch MONDO:0010155 semapv:UnspecifiedMatching +OMIM:275630 chanarin-dorfman syndrome skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching +OMIM:275630 chanarin-dorfman syndrome skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching +OMIM:275900 spastic paraplegia 20, autosomal recessive skos:exactMatch MONDO:0010156 semapv:UnspecifiedMatching +OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:9475 semapv:UnspecifiedMatching +OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:PRSS1 semapv:UnspecifiedMatching +OMIM:276000 PRSS1 skos:exactMatch ncbigene:5644 semapv:UnspecifiedMatching +OMIM:276100 tryptophanuria with dwarfism skos:exactMatch MONDO:0010157 semapv:UnspecifiedMatching +OMIM:276200 t-substance anomaly skos:exactMatch MONDO:0010158 semapv:UnspecifiedMatching +OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch MONDO:0010159 semapv:UnspecifiedMatching +OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C0265325 semapv:UnspecifiedMatching +OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching +OMIM:276600 tyrosinemia, iia 2 skos:exactMatch MONDO:0010160 semapv:UnspecifiedMatching +OMIM:276600 tyrosinemia, iia 2 skos:exactMatch Orphanet:28378 semapv:UnspecifiedMatching +OMIM:276600 tyrosinemia, iia 2 skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching +OMIM:276700 tyrosinemia, iia 1 skos:exactMatch MONDO:0010161 semapv:UnspecifiedMatching +OMIM:276700 tyrosinemia, iia 1 skos:exactMatch Orphanet:882 semapv:UnspecifiedMatching +OMIM:276700 tyrosinemia, iia 1 skos:exactMatch UMLS:C0268490 semapv:UnspecifiedMatching +OMIM:276710 tyrosinemia, iia 3 skos:exactMatch MONDO:0010162 semapv:UnspecifiedMatching +OMIM:276710 tyrosinemia, iia 3 skos:exactMatch Orphanet:69723 semapv:UnspecifiedMatching +OMIM:276710 tyrosinemia, iia 3 skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching +OMIM:276800 tyrosinosis skos:exactMatch MONDO:0010163 semapv:UnspecifiedMatching +OMIM:276820 ulna and fibula, absence of, with severe limb deficiency skos:exactMatch MONDO:0010164 semapv:UnspecifiedMatching +OMIM:276821 ulnar hypoplasia with mental retardation skos:exactMatch MONDO:0010165 semapv:UnspecifiedMatching +OMIM:276822 ulnar agenesis and endocardial fibroelastosis skos:exactMatch MONDO:0010166 semapv:UnspecifiedMatching +OMIM:276880 urocanase deficiency skos:exactMatch MONDO:0010167 semapv:UnspecifiedMatching +OMIM:276900 usher syndrome, iia 1 skos:exactMatch MONDO:0700087 semapv:UnspecifiedMatching +OMIM:276901 usher syndrome, iia 2a skos:exactMatch MONDO:0010169 semapv:UnspecifiedMatching +OMIM:276901 usher syndrome, iia 2a skos:exactMatch Orphanet:231178 semapv:UnspecifiedMatching +OMIM:276901 usher syndrome, iia 2a skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching +OMIM:276901 usher syndrome, iia 2a skos:exactMatch UMLS:C1848634 semapv:UnspecifiedMatching +OMIM:276902 usher syndrome, iia 3a skos:exactMatch MONDO:0010170 semapv:UnspecifiedMatching +OMIM:276903 MYO7A skos:exactMatch hgnc.symbol:7606 semapv:UnspecifiedMatching +OMIM:276903 MYO7A skos:exactMatch hgnc.symbol:MYO7A semapv:UnspecifiedMatching +OMIM:276903 MYO7A skos:exactMatch ncbigene:4647 semapv:UnspecifiedMatching +OMIM:276904 usher syndrome, iia 1c skos:exactMatch MONDO:0010171 semapv:UnspecifiedMatching +OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:231169 semapv:UnspecifiedMatching +OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching +OMIM:276904 usher syndrome, iia 1c skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching +OMIM:276905 skos:exactMatch MONDO:0024996 semapv:UnspecifiedMatching +OMIM:276950 vacterl association with hydrocephalus skos:exactMatch MONDO:0010172 semapv:UnspecifiedMatching +OMIM:277000 mayer-rokitansky-kuster-hauser syndrome skos:exactMatch MONDO:0010173 semapv:UnspecifiedMatching +OMIM:277100 valinemia skos:exactMatch MONDO:0010174 semapv:UnspecifiedMatching +OMIM:277100 valinemia skos:exactMatch UMLS:C0268573 semapv:UnspecifiedMatching +OMIM:277150 van bogaert-hozay syndrome skos:exactMatch MONDO:0010175 semapv:UnspecifiedMatching +OMIM:277170 orofaciodigital syndrome 6 skos:exactMatch MONDO:0010176 semapv:UnspecifiedMatching +OMIM:277175 vascular hyalinosis skos:exactMatch MONDO:0010177 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch MONDO:0010178 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C0403814 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C5393224 semapv:UnspecifiedMatching +OMIM:277200 right ventricular hypoplasia, isolated skos:exactMatch MONDO:0010179 semapv:UnspecifiedMatching +OMIM:277300 spondylocostal dysostosis 1, autosomal recessive skos:exactMatch MONDO:0020692 semapv:UnspecifiedMatching +OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia skos:exactMatch MONDO:0010181 semapv:UnspecifiedMatching +OMIM:277350 hypercarotenemia and vitamin a deficiency, autosomal recessive skos:exactMatch MONDO:0010182 semapv:UnspecifiedMatching +OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia skos:exactMatch MONDO:0010183 semapv:UnspecifiedMatching +OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia skos:exactMatch MONDO:0010184 semapv:UnspecifiedMatching +OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia skos:exactMatch MONDO:0010185 semapv:UnspecifiedMatching +OMIM:277440 vitamin d-dependent rickets, iia 2a skos:exactMatch MONDO:0010186 semapv:UnspecifiedMatching +OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 skos:exactMatch MONDO:0010187 semapv:UnspecifiedMatching +OMIM:277460 ataxia with vitamin e deficiency skos:exactMatch MONDO:0010188 semapv:UnspecifiedMatching +OMIM:277465 vitiligo, progressive, with mental retardation and urethral duplication skos:exactMatch MONDO:0010189 semapv:UnspecifiedMatching +OMIM:277470 pontocerebellar hypoplasia, iia 2a skos:exactMatch MONDO:0010190 semapv:UnspecifiedMatching +OMIM:277480 von willebrand disease, iia 3 skos:exactMatch MONDO:0010191 semapv:UnspecifiedMatching +OMIM:277580 waardenburg syndrome, iia 4a skos:exactMatch MONDO:0010192 semapv:UnspecifiedMatching +OMIM:277590 weaver syndrome skos:exactMatch MONDO:0010193 semapv:UnspecifiedMatching +OMIM:277590 weaver syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching +OMIM:277590 weaver syndrome skos:exactMatch UMLS:C0265210 semapv:UnspecifiedMatching +OMIM:277600 weill-marchesani syndrome 1 skos:exactMatch MONDO:0010194 semapv:UnspecifiedMatching +OMIM:277700 werner syndrome skos:exactMatch MONDO:0010196 semapv:UnspecifiedMatching +OMIM:277720 whistling face syndrome, recessive form skos:exactMatch MONDO:0010197 semapv:UnspecifiedMatching +OMIM:277730 wernicke-korsakoff syndrome skos:exactMatch MONDO:0010198 semapv:UnspecifiedMatching +OMIM:277740 white forelock with malformations skos:exactMatch MONDO:0010199 semapv:UnspecifiedMatching +OMIM:277900 wilson disease skos:exactMatch MONDO:0010200 semapv:UnspecifiedMatching +OMIM:277900 wilson disease skos:exactMatch Orphanet:905 semapv:UnspecifiedMatching +OMIM:277900 wilson disease skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching +OMIM:277950 winchester syndrome skos:exactMatch MONDO:0010201 semapv:UnspecifiedMatching +OMIM:277950 winchester syndrome skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching +OMIM:277950 winchester syndrome skos:exactMatch UMLS:C0432289 semapv:UnspecifiedMatching +OMIM:277990 wolff mental retardation syndrome skos:exactMatch MONDO:0010203 semapv:UnspecifiedMatching +OMIM:278000 cholesteryl ester storage disease skos:exactMatch MONDO:0019149 semapv:UnspecifiedMatching +OMIM:278150 hypotrichosis 8 skos:exactMatch MONDO:0010206 semapv:UnspecifiedMatching +OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears skos:exactMatch MONDO:0010207 semapv:UnspecifiedMatching +OMIM:278250 wrinkly skin syndrome skos:exactMatch MONDO:0010208 semapv:UnspecifiedMatching +OMIM:278300 xanthinuria, iia 1 skos:exactMatch MONDO:0010209 semapv:UnspecifiedMatching +OMIM:278700 xeroderma pigmentosum, complementation group a skos:exactMatch MONDO:0010210 semapv:UnspecifiedMatching +OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch MONDO:0010211 semapv:UnspecifiedMatching +OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching +OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching +OMIM:278730 xeroderma pigmentosum, complementation group d skos:exactMatch MONDO:0010212 semapv:UnspecifiedMatching +OMIM:278740 xeroderma pigmentosum, complementation group e skos:exactMatch MONDO:0010213 semapv:UnspecifiedMatching +OMIM:278750 xeroderma pigmentosum, variant iia skos:exactMatch MONDO:0010214 semapv:UnspecifiedMatching +OMIM:278760 xeroderma pigmentosum, complementation group f skos:exactMatch MONDO:0010215 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch MONDO:0010216 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:220295 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C1968561 semapv:UnspecifiedMatching +OMIM:278800 lange sanctis-cacchione syndrome skos:exactMatch MONDO:0010217 semapv:UnspecifiedMatching +OMIM:278850 46,xx sex reversal 2 skos:exactMatch MONDO:0010218 semapv:UnspecifiedMatching +OMIM:278900 xylosidase deficiency skos:exactMatch MONDO:0010219 semapv:UnspecifiedMatching +OMIM:279000 young syndrome skos:exactMatch MONDO:0010220 semapv:UnspecifiedMatching +OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome skos:exactMatch MONDO:0010221 semapv:UnspecifiedMatching +OMIM:300000 opitz gbbb syndrome skos:exactMatch MONDO:0010222 semapv:UnspecifiedMatching +OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency skos:exactMatch MONDO:0010223 semapv:UnspecifiedMatching +OMIM:300002 ARSD skos:exactMatch hgnc.symbol:717 semapv:UnspecifiedMatching +OMIM:300002 ARSD skos:exactMatch hgnc.symbol:ARSD semapv:UnspecifiedMatching +OMIM:300002 ARSD skos:exactMatch ncbigene:414 semapv:UnspecifiedMatching +OMIM:300003 ARSF skos:exactMatch hgnc.symbol:721 semapv:UnspecifiedMatching +OMIM:300003 ARSF skos:exactMatch hgnc.symbol:ARSF semapv:UnspecifiedMatching +OMIM:300003 ARSF skos:exactMatch ncbigene:416 semapv:UnspecifiedMatching +OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch MONDO:0010224 semapv:UnspecifiedMatching +OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching +OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching +OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:6990 semapv:UnspecifiedMatching +OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:MECP2 semapv:UnspecifiedMatching +OMIM:300005 MECP2 skos:exactMatch ncbigene:4204 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch UMLS:C1413351 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:1867 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:CETN2 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch ncbigene:1069 semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch UMLS:C1416413 semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch hgnc.symbol:6030 semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch hgnc.symbol:IL9R semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch ncbigene:3581 semapv:UnspecifiedMatching +OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:2023 semapv:UnspecifiedMatching +OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:CLCN5 semapv:UnspecifiedMatching +OMIM:300008 CLCN5 skos:exactMatch ncbigene:1184 semapv:UnspecifiedMatching +OMIM:300009 dent disease 1 skos:exactMatch MONDO:0010225 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch UMLS:C0268353 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch UMLS:C1412688 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch UMLS:C1845359 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch UMLS:C4016446 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch UMLS:C4016447 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch hgnc.symbol:869 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch hgnc.symbol:ATP7A semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch ncbigene:538 semapv:UnspecifiedMatching +OMIM:300012 SMARCA1 skos:exactMatch hgnc.symbol:11097 semapv:UnspecifiedMatching +OMIM:300012 SMARCA1 skos:exactMatch hgnc.symbol:SMARCA1 semapv:UnspecifiedMatching +OMIM:300012 SMARCA1 skos:exactMatch ncbigene:6594 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch UMLS:C1538918 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch UMLS:C3275447 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch hgnc.symbol:18704 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch hgnc.symbol:NAA10 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch ncbigene:8260 semapv:UnspecifiedMatching +OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:816 semapv:UnspecifiedMatching +OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:ATP2B3 semapv:UnspecifiedMatching +OMIM:300014 ATP2B3 skos:exactMatch ncbigene:492 semapv:UnspecifiedMatching +OMIM:300015 ASMT skos:exactMatch hgnc.symbol:750 semapv:UnspecifiedMatching +OMIM:300015 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching +OMIM:300015 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching +OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:6796 semapv:UnspecifiedMatching +OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:MAGEA1 semapv:UnspecifiedMatching +OMIM:300016 MAGEA1 skos:exactMatch ncbigene:4100 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C0262436 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C0265251 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C1414635 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C1844696 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C1845902 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C2746068 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C2748918 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C3806579 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4016451 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4225601 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4225602 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch UMLS:C4281559 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch hgnc.symbol:3754 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch hgnc.symbol:FLNA semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch ncbigene:2316 semapv:UnspecifiedMatching +OMIM:300018 46,xy sex reversal 2 skos:exactMatch MONDO:0010226 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch UMLS:C1415493 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:4839 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:HCFC1 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch ncbigene:3054 semapv:UnspecifiedMatching +OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:9101 semapv:UnspecifiedMatching +OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:PLXNA3 semapv:UnspecifiedMatching +OMIM:300022 PLXNA3 skos:exactMatch ncbigene:55558 semapv:UnspecifiedMatching +OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:674 semapv:UnspecifiedMatching +OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:ARHGAP4 semapv:UnspecifiedMatching +OMIM:300023 ARHGAP4 skos:exactMatch ncbigene:393 semapv:UnspecifiedMatching +OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:12942 semapv:UnspecifiedMatching +OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:ZNF157 semapv:UnspecifiedMatching +OMIM:300024 ZNF157 skos:exactMatch ncbigene:7712 semapv:UnspecifiedMatching +OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:1808 semapv:UnspecifiedMatching +OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:CDX4 semapv:UnspecifiedMatching +OMIM:300025 CDX4 skos:exactMatch ncbigene:1046 semapv:UnspecifiedMatching +OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:7638 semapv:UnspecifiedMatching +OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:NAP1L2 semapv:UnspecifiedMatching +OMIM:300026 NAP1L2 skos:exactMatch ncbigene:4674 semapv:UnspecifiedMatching +OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:9900 semapv:UnspecifiedMatching +OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:RBM3 semapv:UnspecifiedMatching +OMIM:300027 RBM3 skos:exactMatch ncbigene:5935 semapv:UnspecifiedMatching +OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:23019 semapv:UnspecifiedMatching +OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:ZRSR2 semapv:UnspecifiedMatching +OMIM:300028 ZRSR2 skos:exactMatch ncbigene:8233 semapv:UnspecifiedMatching +OMIM:300029 retinitis pigmentosa 3 skos:exactMatch MONDO:0010227 semapv:UnspecifiedMatching +OMIM:300030 deafness, X-linked 3 skos:exactMatch MONDO:0010228 semapv:UnspecifiedMatching +OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:17125 semapv:UnspecifiedMatching +OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:TMEM185A semapv:UnspecifiedMatching +OMIM:300031 FAM11A skos:exactMatch ncbigene:84548 semapv:UnspecifiedMatching +OMIM:300032 ATRX skos:exactMatch hgnc.symbol:886 semapv:UnspecifiedMatching +OMIM:300032 ATRX skos:exactMatch hgnc.symbol:ATRX semapv:UnspecifiedMatching +OMIM:300032 ATRX skos:exactMatch ncbigene:546 semapv:UnspecifiedMatching +OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:7139 semapv:UnspecifiedMatching +OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:FOXO4 semapv:UnspecifiedMatching +OMIM:300033 FOXO4 skos:exactMatch ncbigene:4303 semapv:UnspecifiedMatching +OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:338 semapv:UnspecifiedMatching +OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:AGTR2 semapv:UnspecifiedMatching +OMIM:300034 AGTR2 skos:exactMatch ncbigene:186 semapv:UnspecifiedMatching +OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:3226 semapv:UnspecifiedMatching +OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:EFNB1 semapv:UnspecifiedMatching +OMIM:300035 EFNB1 skos:exactMatch ncbigene:1947 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1420219 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1845862 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:11055 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:SLC6A8 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch ncbigene:6535 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch UMLS:C1415195 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch UMLS:C4016454 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:4451 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:GPC3 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch ncbigene:2719 semapv:UnspecifiedMatching +OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:8542 semapv:UnspecifiedMatching +OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:P2RY4 semapv:UnspecifiedMatching +OMIM:300038 P2RY4 skos:exactMatch ncbigene:5030 semapv:UnspecifiedMatching +OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:9217 semapv:UnspecifiedMatching +OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:POU3F4 semapv:UnspecifiedMatching +OMIM:300039 POU3F4 skos:exactMatch ncbigene:5456 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch UMLS:C1822777 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch UMLS:C5394560 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch UMLS:C5394561 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:11111 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:SMC1A semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch ncbigene:8243 semapv:UnspecifiedMatching +OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:4691 semapv:UnspecifiedMatching +OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:GUCY2F semapv:UnspecifiedMatching +OMIM:300041 GUCY2F skos:exactMatch ncbigene:2986 semapv:UnspecifiedMatching +OMIM:300042 alopecia, congenital skos:exactMatch MONDO:0010229 semapv:UnspecifiedMatching +OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:11835 semapv:UnspecifiedMatching +OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:TKTL1 semapv:UnspecifiedMatching +OMIM:300044 TKTL1 skos:exactMatch ncbigene:8277 semapv:UnspecifiedMatching +OMIM:300046 intellectual developmental disorder, X-linked 23 skos:exactMatch MONDO:0010230 semapv:UnspecifiedMatching +OMIM:300047 intellectual developmental disorder, X-linked 20 skos:exactMatch MONDO:0010231 semapv:UnspecifiedMatching +OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch MONDO:0010232 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch MONDO:0010233 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1845235 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C4551969 semapv:UnspecifiedMatching +OMIM:300050 USP11 skos:exactMatch hgnc.symbol:12609 semapv:UnspecifiedMatching +OMIM:300050 USP11 skos:exactMatch hgnc.symbol:USP11 semapv:UnspecifiedMatching +OMIM:300050 USP11 skos:exactMatch ncbigene:8237 semapv:UnspecifiedMatching +OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:4461 semapv:UnspecifiedMatching +OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:GPM6B semapv:UnspecifiedMatching +OMIM:300051 GPM6B skos:exactMatch ncbigene:2824 semapv:UnspecifiedMatching +OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:3032 semapv:UnspecifiedMatching +OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:DRP2 semapv:UnspecifiedMatching +OMIM:300052 DRP2 skos:exactMatch ncbigene:1821 semapv:UnspecifiedMatching +OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:11486 semapv:UnspecifiedMatching +OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:VAMP7 semapv:UnspecifiedMatching +OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch ncbigene:6845 semapv:UnspecifiedMatching +OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 skos:exactMatch MONDO:0010235 semapv:UnspecifiedMatching +OMIM:300056 HCCS skos:exactMatch hgnc.symbol:4837 semapv:UnspecifiedMatching +OMIM:300056 HCCS skos:exactMatch hgnc.symbol:HCCS semapv:UnspecifiedMatching +OMIM:300056 HCCS skos:exactMatch ncbigene:3052 semapv:UnspecifiedMatching +OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:13705 semapv:UnspecifiedMatching +OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:TMEM187 semapv:UnspecifiedMatching +OMIM:300059 TMEM187 skos:exactMatch ncbigene:8269 semapv:UnspecifiedMatching +OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:26058 semapv:UnspecifiedMatching +OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:LAGE3 semapv:UnspecifiedMatching +OMIM:300060 LAGE3 skos:exactMatch ncbigene:8270 semapv:UnspecifiedMatching +OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:13054 semapv:UnspecifiedMatching +OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:ZMYM3 semapv:UnspecifiedMatching +OMIM:300061 ZMYM3 skos:exactMatch ncbigene:9203 semapv:UnspecifiedMatching +OMIM:300062 intellectual developmental disorder, X-linked 14 skos:exactMatch MONDO:0010236 semapv:UnspecifiedMatching +OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism skos:exactMatch MONDO:0010237 semapv:UnspecifiedMatching +OMIM:300065 CENPI skos:exactMatch hgnc.symbol:3968 semapv:UnspecifiedMatching +OMIM:300065 CENPI skos:exactMatch hgnc.symbol:CENPI semapv:UnspecifiedMatching +OMIM:300065 CENPI skos:exactMatch ncbigene:2491 semapv:UnspecifiedMatching +OMIM:300066 deafness, X-linked 4 skos:exactMatch MONDO:0010238 semapv:UnspecifiedMatching +OMIM:300067 lissencephaly, x-linked, 1 skos:exactMatch MONDO:0010239 semapv:UnspecifiedMatching +OMIM:300068 androgen insensitivity syndrome skos:exactMatch MONDO:0019154 semapv:UnspecifiedMatching +OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:3670 semapv:UnspecifiedMatching +OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:FGF13 semapv:UnspecifiedMatching +OMIM:300070 FGF13 skos:exactMatch ncbigene:2258 semapv:UnspecifiedMatching +OMIM:300071 night blindness, congenital stationary, iia 2a skos:exactMatch MONDO:0010241 semapv:UnspecifiedMatching +OMIM:300072 USP9X skos:exactMatch hgnc.symbol:12632 semapv:UnspecifiedMatching +OMIM:300072 USP9X skos:exactMatch hgnc.symbol:USP9X semapv:UnspecifiedMatching +OMIM:300072 USP9X skos:exactMatch ncbigene:8239 semapv:UnspecifiedMatching +OMIM:300073 fetal akinesia syndrome, X-linked skos:exactMatch MONDO:0010242 semapv:UnspecifiedMatching +OMIM:300074 XCE skos:exactMatch hgnc.symbol:12804 semapv:UnspecifiedMatching +OMIM:300074 XCE skos:exactMatch hgnc.symbol:XCE semapv:UnspecifiedMatching +OMIM:300074 XCE skos:exactMatch ncbigene:7497 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0265252 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0796225 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C1419744 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C4016455 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:10432 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:RPS6KA3 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch ncbigene:6197 semapv:UnspecifiedMatching +OMIM:300076 immunoneurologic disorder, X-linked skos:exactMatch MONDO:0010243 semapv:UnspecifiedMatching +OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:7683 semapv:UnspecifiedMatching +OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:NDUFA1 semapv:UnspecifiedMatching +OMIM:300078 NDUFA1 skos:exactMatch ncbigene:4694 semapv:UnspecifiedMatching +OMIM:300079 XIAP skos:exactMatch hgnc.symbol:592 semapv:UnspecifiedMatching +OMIM:300079 XIAP skos:exactMatch hgnc.symbol:XIAP semapv:UnspecifiedMatching +OMIM:300079 XIAP skos:exactMatch ncbigene:331 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch UMLS:C1419296 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:9896 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:RBM10 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch ncbigene:8241 semapv:UnspecifiedMatching +OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:2957 semapv:UnspecifiedMatching +OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:DNASE1L1 semapv:UnspecifiedMatching +OMIM:300081 DNASE1L1 skos:exactMatch ncbigene:1774 semapv:UnspecifiedMatching +OMIM:300082 cognitive function 1, social skos:exactMatch MONDO:0010244 semapv:UnspecifiedMatching +OMIM:300083 PRKX skos:exactMatch hgnc.symbol:9441 semapv:UnspecifiedMatching +OMIM:300083 PRKX skos:exactMatch hgnc.symbol:PRKX semapv:UnspecifiedMatching +OMIM:300083 PRKX skos:exactMatch ncbigene:5613 semapv:UnspecifiedMatching +OMIM:300084 NONO skos:exactMatch hgnc.symbol:7871 semapv:UnspecifiedMatching +OMIM:300084 NONO skos:exactMatch hgnc.symbol:NONO semapv:UnspecifiedMatching +OMIM:300084 NONO skos:exactMatch ncbigene:4841 semapv:UnspecifiedMatching +OMIM:300085 cone-rod dystrophy, x-linked, 2 skos:exactMatch MONDO:0010245 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch UMLS:C1415216 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:4478 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:LPAR4 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch ncbigene:2846 semapv:UnspecifiedMatching +OMIM:300087 x inactivation, familial skewed, 1 skos:exactMatch MONDO:0026404 semapv:UnspecifiedMatching +OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch MONDO:0010246 semapv:UnspecifiedMatching +OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:101039 semapv:UnspecifiedMatching +OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching +OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching +OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:5386 semapv:UnspecifiedMatching +OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:IDH3G semapv:UnspecifiedMatching +OMIM:300089 IDH3G skos:exactMatch ncbigene:3421 semapv:UnspecifiedMatching +OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:11326 semapv:UnspecifiedMatching +OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:SSR4 semapv:UnspecifiedMatching +OMIM:300090 SSR4 skos:exactMatch ncbigene:6748 semapv:UnspecifiedMatching +OMIM:300091 FIGF skos:exactMatch hgnc.symbol:3708 semapv:UnspecifiedMatching +OMIM:300091 FIGF skos:exactMatch hgnc.symbol:VEGFD semapv:UnspecifiedMatching +OMIM:300091 FIGF skos:exactMatch ncbigene:2277 semapv:UnspecifiedMatching +OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:2563 semapv:UnspecifiedMatching +OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:TEX28 semapv:UnspecifiedMatching +OMIM:300092 TEX28 skos:exactMatch ncbigene:1527 semapv:UnspecifiedMatching +OMIM:300093 GABRE skos:exactMatch hgnc.symbol:4085 semapv:UnspecifiedMatching +OMIM:300093 GABRE skos:exactMatch hgnc.symbol:GABRE semapv:UnspecifiedMatching +OMIM:300093 GABRE skos:exactMatch ncbigene:2564 semapv:UnspecifiedMatching +OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:10923 semapv:UnspecifiedMatching +OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:SLC16A2 semapv:UnspecifiedMatching +OMIM:300095 SLC16A2 skos:exactMatch ncbigene:6567 semapv:UnspecifiedMatching +OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:11854 semapv:UnspecifiedMatching +OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:TSPAN7 semapv:UnspecifiedMatching +OMIM:300096 TSPAN7 skos:exactMatch ncbigene:7102 semapv:UnspecifiedMatching +OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:6808 semapv:UnspecifiedMatching +OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:MAGEB1 semapv:UnspecifiedMatching +OMIM:300097 MAGEB1 skos:exactMatch ncbigene:4112 semapv:UnspecifiedMatching +OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:6809 semapv:UnspecifiedMatching +OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:MAGEB2 semapv:UnspecifiedMatching +OMIM:300098 MAGEB2 skos:exactMatch ncbigene:4113 semapv:UnspecifiedMatching +OMIM:300100 adrenoleukodystrophy skos:exactMatch MONDO:0018544 semapv:UnspecifiedMatching +OMIM:300101 BMX skos:exactMatch hgnc.symbol:1079 semapv:UnspecifiedMatching +OMIM:300101 BMX skos:exactMatch hgnc.symbol:BMX semapv:UnspecifiedMatching +OMIM:300101 BMX skos:exactMatch ncbigene:660 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch UMLS:C1538687 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:24887 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:PNPLA4 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch ncbigene:8228 semapv:UnspecifiedMatching +OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:630 semapv:UnspecifiedMatching +OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:SHROOM2 semapv:UnspecifiedMatching +OMIM:300103 SHROOM2 skos:exactMatch ncbigene:357 semapv:UnspecifiedMatching +OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:4226 semapv:UnspecifiedMatching +OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:GDI1 semapv:UnspecifiedMatching +OMIM:300104 GDI1 skos:exactMatch ncbigene:2664 semapv:UnspecifiedMatching +OMIM:300105 SMS skos:exactMatch hgnc.symbol:11123 semapv:UnspecifiedMatching +OMIM:300105 SMS skos:exactMatch hgnc.symbol:SMS semapv:UnspecifiedMatching +OMIM:300105 SMS skos:exactMatch ncbigene:6611 semapv:UnspecifiedMatching +OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked skos:exactMatch MONDO:0010248 semapv:UnspecifiedMatching +OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:1113 semapv:UnspecifiedMatching +OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:BRS3 semapv:UnspecifiedMatching +OMIM:300107 BRS3 skos:exactMatch ncbigene:680 semapv:UnspecifiedMatching +OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:2877 semapv:UnspecifiedMatching +OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:DIAPH2 semapv:UnspecifiedMatching +OMIM:300108 DIAPH2 skos:exactMatch ncbigene:1730 semapv:UnspecifiedMatching +OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:9243 semapv:UnspecifiedMatching +OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:PPEF1 semapv:UnspecifiedMatching +OMIM:300109 PPEF1 skos:exactMatch ncbigene:5475 semapv:UnspecifiedMatching +OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:1393 semapv:UnspecifiedMatching +OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:CACNA1F semapv:UnspecifiedMatching +OMIM:300110 CACNA1F skos:exactMatch ncbigene:778 semapv:UnspecifiedMatching +OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:6645 semapv:UnspecifiedMatching +OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:PRICKLE3 semapv:UnspecifiedMatching +OMIM:300111 PRICKLE3 skos:exactMatch ncbigene:4007 semapv:UnspecifiedMatching +OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:9087 semapv:UnspecifiedMatching +OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:PLP2 semapv:UnspecifiedMatching +OMIM:300112 PLP2 skos:exactMatch ncbigene:5355 semapv:UnspecifiedMatching +OMIM:300114 raynaud-claes syndrome skos:exactMatch MONDO:0010250 semapv:UnspecifiedMatching +OMIM:300115 intellectual developmental disorder, X-linked 50 skos:exactMatch MONDO:0010251 semapv:UnspecifiedMatching +OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:7423 semapv:UnspecifiedMatching +OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:MTCP1 semapv:UnspecifiedMatching +OMIM:300116 MTCP1 skos:exactMatch ncbigene:4515 semapv:UnspecifiedMatching +OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:7639 semapv:UnspecifiedMatching +OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:NAP1L3 semapv:UnspecifiedMatching +OMIM:300117 NAP1L3 skos:exactMatch ncbigene:4675 semapv:UnspecifiedMatching +OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:676 semapv:UnspecifiedMatching +OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:ARHGAP6 semapv:UnspecifiedMatching +OMIM:300118 ARHGAP6 skos:exactMatch ncbigene:395 semapv:UnspecifiedMatching +OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:5974 semapv:UnspecifiedMatching +OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:IL13RA1 semapv:UnspecifiedMatching +OMIM:300119 IL13RA1 skos:exactMatch ncbigene:3597 semapv:UnspecifiedMatching +OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:2568 semapv:UnspecifiedMatching +OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:MAMLD1 semapv:UnspecifiedMatching +OMIM:300120 MAMLD1 skos:exactMatch ncbigene:10046 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch UMLS:C1413938 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch UMLS:C1848070 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch UMLS:C4551968 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch hgnc.symbol:2714 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch hgnc.symbol:DCX semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch ncbigene:1641 semapv:UnspecifiedMatching +OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism skos:exactMatch MONDO:0010252 semapv:UnspecifiedMatching +OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:30189 semapv:UnspecifiedMatching +OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:GTPBP6 semapv:UnspecifiedMatching +OMIM:300124 GTPBP6 skos:exactMatch ncbigene:8225 semapv:UnspecifiedMatching +OMIM:300125 migraine with or without aura, susceptibility to, 2 skos:exactMatch MONDO:0010253 semapv:UnspecifiedMatching +OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:2890 semapv:UnspecifiedMatching +OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:DKC1 semapv:UnspecifiedMatching +OMIM:300126 DKC1 skos:exactMatch ncbigene:1736 semapv:UnspecifiedMatching +OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:8148 semapv:UnspecifiedMatching +OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:OPHN1 semapv:UnspecifiedMatching +OMIM:300127 OPHN1 skos:exactMatch ncbigene:4983 semapv:UnspecifiedMatching +OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:12637 semapv:UnspecifiedMatching +OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:KDM6A semapv:UnspecifiedMatching +OMIM:300128 KDM6A skos:exactMatch ncbigene:7403 semapv:UnspecifiedMatching +OMIM:300129 hematopoietic stem cell kinetics, control of skos:exactMatch MONDO:0010254 semapv:UnspecifiedMatching +OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:5975 semapv:UnspecifiedMatching +OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:IL13RA2 semapv:UnspecifiedMatching +OMIM:300130 IL13RA2 skos:exactMatch ncbigene:3598 semapv:UnspecifiedMatching +OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:9091 semapv:UnspecifiedMatching +OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:PLS3 semapv:UnspecifiedMatching +OMIM:300131 PLS3 skos:exactMatch ncbigene:5358 semapv:UnspecifiedMatching +OMIM:300132 TRO skos:exactMatch hgnc.symbol:12326 semapv:UnspecifiedMatching +OMIM:300132 TRO skos:exactMatch hgnc.symbol:TRO semapv:UnspecifiedMatching +OMIM:300132 TRO skos:exactMatch ncbigene:7216 semapv:UnspecifiedMatching +OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:12662 semapv:UnspecifiedMatching +OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:VBP1 semapv:UnspecifiedMatching +OMIM:300133 VBP1 skos:exactMatch ncbigene:7411 semapv:UnspecifiedMatching +OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:3076 semapv:UnspecifiedMatching +OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:DUSP9 semapv:UnspecifiedMatching +OMIM:300134 DUSP9 skos:exactMatch ncbigene:1852 semapv:UnspecifiedMatching +OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:48 semapv:UnspecifiedMatching +OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:ABCB7 semapv:UnspecifiedMatching +OMIM:300135 ABCB7 skos:exactMatch ncbigene:22 semapv:UnspecifiedMatching +OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch MONDO:0010255 semapv:UnspecifiedMatching +OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching +OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:5948 semapv:UnspecifiedMatching +OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:IGSF1 semapv:UnspecifiedMatching +OMIM:300137 IGSF1 skos:exactMatch ncbigene:3547 semapv:UnspecifiedMatching +OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:2063 semapv:UnspecifiedMatching +OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:CLIC2 semapv:UnspecifiedMatching +OMIM:300138 CLIC2 skos:exactMatch ncbigene:1193 semapv:UnspecifiedMatching +OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:5461 semapv:UnspecifiedMatching +OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:IGBP1 semapv:UnspecifiedMatching +OMIM:300139 IGBP1 skos:exactMatch ncbigene:3476 semapv:UnspecifiedMatching +OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:8592 semapv:UnspecifiedMatching +OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:PAK3 semapv:UnspecifiedMatching +OMIM:300142 PAK3 skos:exactMatch ncbigene:5063 semapv:UnspecifiedMatching +OMIM:300143 intellectual developmental disorder, X-linked 21 skos:exactMatch MONDO:0010256 semapv:UnspecifiedMatching +OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:4336 semapv:UnspecifiedMatching +OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:GLUD2 semapv:UnspecifiedMatching +OMIM:300144 GLUD2 skos:exactMatch ncbigene:2747 semapv:UnspecifiedMatching +OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:12823 semapv:UnspecifiedMatching +OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:XPNPEP2 semapv:UnspecifiedMatching +OMIM:300145 XPNPEP2 skos:exactMatch ncbigene:7512 semapv:UnspecifiedMatching +OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:1483 semapv:UnspecifiedMatching +OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:CAPN6 semapv:UnspecifiedMatching +OMIM:300146 CAPN6 skos:exactMatch ncbigene:827 semapv:UnspecifiedMatching +OMIM:300147 prostate cancer, hereditary, X-linked 1 skos:exactMatch MONDO:0010257 semapv:UnspecifiedMatching +OMIM:300148 mehmo syndrome skos:exactMatch MONDO:0010258 semapv:UnspecifiedMatching +OMIM:300148 mehmo syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching +OMIM:300148 mehmo syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching +OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:1986 semapv:UnspecifiedMatching +OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:CITED1 semapv:UnspecifiedMatching +OMIM:300149 CITED1 skos:exactMatch ncbigene:4435 semapv:UnspecifiedMatching +OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:10991 semapv:UnspecifiedMatching +OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:SLC25A5 semapv:UnspecifiedMatching +OMIM:300150 SLC25A5 skos:exactMatch ncbigene:292 semapv:UnspecifiedMatching +OMIM:300151 SLC25A6 skos:exactMatch hgnc.symbol:10992 semapv:UnspecifiedMatching +OMIM:300151 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching +OMIM:300151 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching +OMIM:300152 MAGEB3 skos:exactMatch hgnc.symbol:6810 semapv:UnspecifiedMatching +OMIM:300152 MAGEB3 skos:exactMatch hgnc.symbol:MAGEB3 semapv:UnspecifiedMatching +OMIM:300152 MAGEB3 skos:exactMatch ncbigene:4114 semapv:UnspecifiedMatching +OMIM:300153 MAGEB4 skos:exactMatch hgnc.symbol:6811 semapv:UnspecifiedMatching +OMIM:300153 MAGEB4 skos:exactMatch hgnc.symbol:MAGEB4 semapv:UnspecifiedMatching +OMIM:300153 MAGEB4 skos:exactMatch ncbigene:4115 semapv:UnspecifiedMatching +OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:14865 semapv:UnspecifiedMatching +OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:ESX1 semapv:UnspecifiedMatching +OMIM:300154 ESX1L skos:exactMatch ncbigene:80712 semapv:UnspecifiedMatching +OMIM:300155 retinitis pigmentosa 24 skos:exactMatch MONDO:0010259 semapv:UnspecifiedMatching +OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:2491 semapv:UnspecifiedMatching +OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:CTAG1B semapv:UnspecifiedMatching +OMIM:300156 CTAG1B skos:exactMatch ncbigene:1485 semapv:UnspecifiedMatching +OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:3571 semapv:UnspecifiedMatching +OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:ACSL4 semapv:UnspecifiedMatching +OMIM:300157 ACSL4 skos:exactMatch ncbigene:2182 semapv:UnspecifiedMatching +OMIM:300158 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch MONDO:0010260 semapv:UnspecifiedMatching +OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:11881 semapv:UnspecifiedMatching +OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:TMSB4X semapv:UnspecifiedMatching +OMIM:300159 TMSB4X skos:exactMatch ncbigene:7114 semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch UMLS:C1413962 semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch hgnc.symbol:2745 semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch hgnc.symbol:DDX3X semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch ncbigene:1654 semapv:UnspecifiedMatching +OMIM:300161 EIF2S3 skos:exactMatch hgnc.symbol:3267 semapv:UnspecifiedMatching +OMIM:300161 EIF2S3 skos:exactMatch hgnc.symbol:EIF2S3 semapv:UnspecifiedMatching +OMIM:300161 EIF2S3 skos:exactMatch ncbigene:1968 semapv:UnspecifiedMatching +OMIM:300162 ASMTL skos:exactMatch hgnc.symbol:751 semapv:UnspecifiedMatching +OMIM:300162 ASMTL skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching +OMIM:300162 ASMTL skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C1414612 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C2678055 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C2678061 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C2749106 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C4225599 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch UMLS:C4225600 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch hgnc.symbol:3702 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch hgnc.symbol:FHL1 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch ncbigene:2273 semapv:UnspecifiedMatching +OMIM:300164 INE1 skos:exactMatch hgnc.symbol:6060 semapv:UnspecifiedMatching +OMIM:300164 INE1 skos:exactMatch hgnc.symbol:INE1 semapv:UnspecifiedMatching +OMIM:300164 INE1 skos:exactMatch ncbigene:8552 semapv:UnspecifiedMatching +OMIM:300165 INE2 skos:exactMatch hgnc.symbol:6061 semapv:UnspecifiedMatching +OMIM:300165 INE2 skos:exactMatch hgnc.symbol:INE2 semapv:UnspecifiedMatching +OMIM:300165 INE2 skos:exactMatch ncbigene:8551 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch MONDO:0010261 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch UMLS:C1846265 semapv:UnspecifiedMatching +OMIM:300167 HEPH skos:exactMatch hgnc.symbol:4866 semapv:UnspecifiedMatching +OMIM:300167 HEPH skos:exactMatch hgnc.symbol:HEPH semapv:UnspecifiedMatching +OMIM:300167 HEPH skos:exactMatch ncbigene:9843 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch UMLS:C1415196 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:4452 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:GPC4 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch ncbigene:2239 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C1826618 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch UMLS:C5231520 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:8768 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:AIFM1 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch ncbigene:9131 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1413833 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:2567 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:OFD1 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch ncbigene:8481 semapv:UnspecifiedMatching +OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:7449 semapv:UnspecifiedMatching +OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:MTMR1 semapv:UnspecifiedMatching +OMIM:300171 MTMR1 skos:exactMatch ncbigene:8776 semapv:UnspecifiedMatching +OMIM:300172 CASK skos:exactMatch hgnc.symbol:1497 semapv:UnspecifiedMatching +OMIM:300172 CASK skos:exactMatch hgnc.symbol:CASK semapv:UnspecifiedMatching +OMIM:300172 CASK skos:exactMatch ncbigene:8573 semapv:UnspecifiedMatching +OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:6800 semapv:UnspecifiedMatching +OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:MAGEA2 semapv:UnspecifiedMatching +OMIM:300173 MAGEA2 skos:exactMatch ncbigene:4101 semapv:UnspecifiedMatching +OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:6801 semapv:UnspecifiedMatching +OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:MAGEA3 semapv:UnspecifiedMatching +OMIM:300174 MAGEA3 skos:exactMatch ncbigene:4102 semapv:UnspecifiedMatching +OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:6802 semapv:UnspecifiedMatching +OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:MAGEA4 semapv:UnspecifiedMatching +OMIM:300175 MAGEA4 skos:exactMatch ncbigene:4103 semapv:UnspecifiedMatching +OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:6804 semapv:UnspecifiedMatching +OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:MAGEA6 semapv:UnspecifiedMatching +OMIM:300176 MAGEA6 skos:exactMatch ncbigene:4105 semapv:UnspecifiedMatching +OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:6799 semapv:UnspecifiedMatching +OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:MAGEA12 semapv:UnspecifiedMatching +OMIM:300177 MAGEA12 skos:exactMatch ncbigene:4111 semapv:UnspecifiedMatching +OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:447 semapv:UnspecifiedMatching +OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:ZBED1 semapv:UnspecifiedMatching +OMIM:300178 ZBED1 skos:exactMatch ncbigene:9189 semapv:UnspecifiedMatching +OMIM:300179 x inactivation, familial skewed, 2 skos:exactMatch MONDO:0026426 semapv:UnspecifiedMatching +OMIM:300180 ARSL skos:exactMatch hgnc.symbol:719 semapv:UnspecifiedMatching +OMIM:300180 ARSL skos:exactMatch hgnc.symbol:ARSL semapv:UnspecifiedMatching +OMIM:300180 ARSL skos:exactMatch ncbigene:415 semapv:UnspecifiedMatching +OMIM:300181 TSIX skos:exactMatch hgnc.symbol:12377 semapv:UnspecifiedMatching +OMIM:300181 TSIX skos:exactMatch hgnc.symbol:TSIX semapv:UnspecifiedMatching +OMIM:300181 TSIX skos:exactMatch ncbigene:9383 semapv:UnspecifiedMatching +OMIM:300182 MED14 skos:exactMatch hgnc.symbol:2370 semapv:UnspecifiedMatching +OMIM:300182 MED14 skos:exactMatch hgnc.symbol:MED14 semapv:UnspecifiedMatching +OMIM:300182 MED14 skos:exactMatch ncbigene:9282 semapv:UnspecifiedMatching +OMIM:300184 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch MONDO:0010262 semapv:UnspecifiedMatching +OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:374 semapv:UnspecifiedMatching +OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:AKAP4 semapv:UnspecifiedMatching +OMIM:300185 AKAP4 skos:exactMatch ncbigene:8852 semapv:UnspecifiedMatching +OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:3250 semapv:UnspecifiedMatching +OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:EIF1AX semapv:UnspecifiedMatching +OMIM:300186 EIF1AX skos:exactMatch ncbigene:1964 semapv:UnspecifiedMatching +OMIM:300187 SRPX skos:exactMatch hgnc.symbol:11309 semapv:UnspecifiedMatching +OMIM:300187 SRPX skos:exactMatch hgnc.symbol:SRPX semapv:UnspecifiedMatching +OMIM:300187 SRPX skos:exactMatch ncbigene:8406 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch UMLS:C0220769 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch UMLS:C1537677 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch hgnc.symbol:11957 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch hgnc.symbol:MED12 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch ncbigene:9968 semapv:UnspecifiedMatching +OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:2902 semapv:UnspecifiedMatching +OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:DLG3 semapv:UnspecifiedMatching +OMIM:300189 DLG3 skos:exactMatch ncbigene:1741 semapv:UnspecifiedMatching +OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:10823 semapv:UnspecifiedMatching +OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:SH3BGRL semapv:UnspecifiedMatching +OMIM:300190 SH3BGRL skos:exactMatch ncbigene:6451 semapv:UnspecifiedMatching +OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:11858 semapv:UnspecifiedMatching +OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:TSPAN6 semapv:UnspecifiedMatching +OMIM:300191 TSPAN6 skos:exactMatch ncbigene:7105 semapv:UnspecifiedMatching +OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:11336 semapv:UnspecifiedMatching +OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:SSX2 semapv:UnspecifiedMatching +OMIM:300192 SSX2 skos:exactMatch ncbigene:6757 semapv:UnspecifiedMatching +OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:5004 semapv:UnspecifiedMatching +OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:HMGB3 semapv:UnspecifiedMatching +OMIM:300193 HMGB3 skos:exactMatch ncbigene:3149 semapv:UnspecifiedMatching +OMIM:300194 amme complex skos:exactMatch MONDO:0010263 semapv:UnspecifiedMatching +OMIM:300194 amme complex skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching +OMIM:300194 amme complex skos:exactMatch UMLS:C1846242 semapv:UnspecifiedMatching +OMIM:300195 AMMECR1 skos:exactMatch hgnc.symbol:467 semapv:UnspecifiedMatching +OMIM:300195 AMMECR1 skos:exactMatch hgnc.symbol:AMMECR1 semapv:UnspecifiedMatching +OMIM:300195 AMMECR1 skos:exactMatch ncbigene:9949 semapv:UnspecifiedMatching +OMIM:300196 TBL1X skos:exactMatch hgnc.symbol:11585 semapv:UnspecifiedMatching +OMIM:300196 TBL1X skos:exactMatch hgnc.symbol:TBL1X semapv:UnspecifiedMatching +OMIM:300196 TBL1X skos:exactMatch ncbigene:6907 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch UMLS:C1412687 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:868 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:ATP6AP1 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch ncbigene:537 semapv:UnspecifiedMatching +OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:4700 semapv:UnspecifiedMatching +OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:GYG2 semapv:UnspecifiedMatching +OMIM:300198 GYG2 skos:exactMatch ncbigene:8908 semapv:UnspecifiedMatching +OMIM:300199 RBMX skos:exactMatch hgnc.symbol:9910 semapv:UnspecifiedMatching +OMIM:300199 RBMX skos:exactMatch hgnc.symbol:RBMX semapv:UnspecifiedMatching +OMIM:300199 RBMX skos:exactMatch ncbigene:27316 semapv:UnspecifiedMatching +OMIM:300200 adrenal hypoplasia, congenital skos:exactMatch MONDO:0010264 semapv:UnspecifiedMatching +OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:17451 semapv:UnspecifiedMatching +OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:CYSLTR1 semapv:UnspecifiedMatching +OMIM:300201 CYSLTR1 skos:exactMatch ncbigene:10800 semapv:UnspecifiedMatching +OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:23068 semapv:UnspecifiedMatching +OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:TRAPPC2 semapv:UnspecifiedMatching +OMIM:300202 TRAPPC2 skos:exactMatch ncbigene:6399 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch UMLS:C1420484 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch hgnc.symbol:11411 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch hgnc.symbol:CDKL5 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch ncbigene:6792 semapv:UnspecifiedMatching +OMIM:300204 MID2 skos:exactMatch hgnc.symbol:7096 semapv:UnspecifiedMatching +OMIM:300204 MID2 skos:exactMatch hgnc.symbol:MID2 semapv:UnspecifiedMatching +OMIM:300204 MID2 skos:exactMatch ncbigene:11043 semapv:UnspecifiedMatching +OMIM:300205 EBP skos:exactMatch hgnc.symbol:3133 semapv:UnspecifiedMatching +OMIM:300205 EBP skos:exactMatch hgnc.symbol:EBP semapv:UnspecifiedMatching +OMIM:300205 EBP skos:exactMatch ncbigene:10682 semapv:UnspecifiedMatching +OMIM:300206 IL1RAPL1 skos:exactMatch hgnc.symbol:5996 semapv:UnspecifiedMatching +OMIM:300206 IL1RAPL1 skos:exactMatch hgnc.symbol:IL1RAPL1 semapv:UnspecifiedMatching +OMIM:300206 IL1RAPL1 skos:exactMatch ncbigene:11141 semapv:UnspecifiedMatching +OMIM:300207 GPR50 skos:exactMatch hgnc.symbol:4506 semapv:UnspecifiedMatching +OMIM:300207 GPR50 skos:exactMatch hgnc.symbol:GPR50 semapv:UnspecifiedMatching +OMIM:300207 GPR50 skos:exactMatch ncbigene:9248 semapv:UnspecifiedMatching +OMIM:300208 SCML2 skos:exactMatch UMLS:C1419852 semapv:UnspecifiedMatching +OMIM:300208 SCML2 skos:exactMatch hgnc.symbol:10581 semapv:UnspecifiedMatching +OMIM:300208 SCML2 skos:exactMatch hgnc.symbol:SCML2 semapv:UnspecifiedMatching +OMIM:300208 SCML2 skos:exactMatch ncbigene:10389 semapv:UnspecifiedMatching +OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch MONDO:0010265 semapv:UnspecifiedMatching +OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch Orphanet:79022 semapv:UnspecifiedMatching +OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching +OMIM:300210 intellectual developmental disorder, X-linked 58 skos:exactMatch MONDO:0010266 semapv:UnspecifiedMatching +OMIM:300211 episodic muscle weakness, X-linked skos:exactMatch MONDO:0010267 semapv:UnspecifiedMatching +OMIM:300212 RGN skos:exactMatch hgnc.symbol:9989 semapv:UnspecifiedMatching +OMIM:300212 RGN skos:exactMatch hgnc.symbol:RGN semapv:UnspecifiedMatching +OMIM:300212 RGN skos:exactMatch ncbigene:9104 semapv:UnspecifiedMatching +OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:2569 semapv:UnspecifiedMatching +OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:RTL8C semapv:UnspecifiedMatching +OMIM:300213 CXX1 skos:exactMatch ncbigene:8933 semapv:UnspecifiedMatching +OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:9105 semapv:UnspecifiedMatching +OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:PLXNB3 semapv:UnspecifiedMatching +OMIM:300214 PLXNB3 skos:exactMatch ncbigene:5365 semapv:UnspecifiedMatching +OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch MONDO:0010268 semapv:UnspecifiedMatching +OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching +OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching +OMIM:300216 coats disease skos:exactMatch MONDO:0010269 semapv:UnspecifiedMatching +OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:9835 semapv:UnspecifiedMatching +OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:RAI2 semapv:UnspecifiedMatching +OMIM:300217 RAI2 skos:exactMatch ncbigene:10742 semapv:UnspecifiedMatching +OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 skos:exactMatch MONDO:0010270 semapv:UnspecifiedMatching +OMIM:300219 myotubular myopathy with abnormal genital development skos:exactMatch MONDO:0010271 semapv:UnspecifiedMatching +OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal skos:exactMatch MONDO:0010273 semapv:UnspecifiedMatching +OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:6173 semapv:UnspecifiedMatching +OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:ITM2A semapv:UnspecifiedMatching +OMIM:300222 ITM2A skos:exactMatch ncbigene:9452 semapv:UnspecifiedMatching +OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:6812 semapv:UnspecifiedMatching +OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:MAGEC1 semapv:UnspecifiedMatching +OMIM:300223 MAGEC1 skos:exactMatch ncbigene:9947 semapv:UnspecifiedMatching +OMIM:300224 MAGED1 skos:exactMatch hgnc.symbol:6813 semapv:UnspecifiedMatching +OMIM:300224 MAGED1 skos:exactMatch hgnc.symbol:MAGED1 semapv:UnspecifiedMatching +OMIM:300224 MAGED1 skos:exactMatch ncbigene:9500 semapv:UnspecifiedMatching +OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:7889 semapv:UnspecifiedMatching +OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:NOX1 semapv:UnspecifiedMatching +OMIM:300225 NOX1 skos:exactMatch ncbigene:27035 semapv:UnspecifiedMatching +OMIM:300226 SMPX skos:exactMatch hgnc.symbol:11122 semapv:UnspecifiedMatching +OMIM:300226 SMPX skos:exactMatch hgnc.symbol:SMPX semapv:UnspecifiedMatching +OMIM:300226 SMPX skos:exactMatch ncbigene:23676 semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch UMLS:C1419851 semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:10580 semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:SCML1 semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch ncbigene:6322 semapv:UnspecifiedMatching +OMIM:300228 testicular germ cell tumor 1 skos:exactMatch MONDO:0010274 semapv:UnspecifiedMatching +OMIM:300229 VCX skos:exactMatch hgnc.symbol:12667 semapv:UnspecifiedMatching +OMIM:300229 VCX skos:exactMatch hgnc.symbol:VCX semapv:UnspecifiedMatching +OMIM:300229 VCX skos:exactMatch ncbigene:26609 semapv:UnspecifiedMatching +OMIM:300230 CA5B skos:exactMatch hgnc.symbol:1378 semapv:UnspecifiedMatching +OMIM:300230 CA5B skos:exactMatch hgnc.symbol:CA5B semapv:UnspecifiedMatching +OMIM:300230 CA5B skos:exactMatch ncbigene:11238 semapv:UnspecifiedMatching +OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:11079 semapv:UnspecifiedMatching +OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:SLC9A6 semapv:UnspecifiedMatching +OMIM:300231 SLC9A6 skos:exactMatch ncbigene:10479 semapv:UnspecifiedMatching +OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy skos:exactMatch MONDO:0010275 semapv:UnspecifiedMatching +OMIM:300233 radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male skos:exactMatch MONDO:0010276 semapv:UnspecifiedMatching +OMIM:300234 UXT skos:exactMatch hgnc.symbol:12641 semapv:UnspecifiedMatching +OMIM:300234 UXT skos:exactMatch hgnc.symbol:UXT semapv:UnspecifiedMatching +OMIM:300234 UXT skos:exactMatch ncbigene:8409 semapv:UnspecifiedMatching +OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:13198 semapv:UnspecifiedMatching +OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:ZXDA semapv:UnspecifiedMatching +OMIM:300235 ZXDA skos:exactMatch ncbigene:7789 semapv:UnspecifiedMatching +OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:13199 semapv:UnspecifiedMatching +OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:ZXDB semapv:UnspecifiedMatching +OMIM:300236 ZXDB skos:exactMatch ncbigene:158586 semapv:UnspecifiedMatching +OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:11616 semapv:UnspecifiedMatching +OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:TCEAL1 semapv:UnspecifiedMatching +OMIM:300237 TCEAL1 skos:exactMatch ncbigene:9338 semapv:UnspecifiedMatching +OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi iia skos:exactMatch MONDO:0010277 semapv:UnspecifiedMatching +OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:3235 semapv:UnspecifiedMatching +OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:EGFL6 semapv:UnspecifiedMatching +OMIM:300239 EGFL6 skos:exactMatch ncbigene:25975 semapv:UnspecifiedMatching +OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:4490 semapv:UnspecifiedMatching +OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:GPR34 semapv:UnspecifiedMatching +OMIM:300241 GPR34 skos:exactMatch ncbigene:2857 semapv:UnspecifiedMatching +OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:10984 semapv:UnspecifiedMatching +OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:SLC25A14 semapv:UnspecifiedMatching +OMIM:300242 SLC25A14 skos:exactMatch ncbigene:9016 semapv:UnspecifiedMatching +OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch MONDO:0010278 semapv:UnspecifiedMatching +OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch Orphanet:85278 semapv:UnspecifiedMatching +OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch UMLS:C2678194 semapv:UnspecifiedMatching +OMIM:300244 terminal osseous dysplasia skos:exactMatch MONDO:0010279 semapv:UnspecifiedMatching +OMIM:300244 terminal osseous dysplasia skos:exactMatch Orphanet:88630 semapv:UnspecifiedMatching +OMIM:300244 terminal osseous dysplasia skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching +OMIM:300245 ptosis, hereditary congenital 2 skos:exactMatch MONDO:0010280 semapv:UnspecifiedMatching +OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:8656 semapv:UnspecifiedMatching +OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:PCDH11X semapv:UnspecifiedMatching +OMIM:300246 PCDH11X skos:exactMatch ncbigene:27328 semapv:UnspecifiedMatching +OMIM:300247 BMP15 skos:exactMatch hgnc.symbol:1068 semapv:UnspecifiedMatching +OMIM:300247 BMP15 skos:exactMatch hgnc.symbol:BMP15 semapv:UnspecifiedMatching +OMIM:300247 BMP15 skos:exactMatch ncbigene:9210 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C1416380 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C4749069 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C5394562 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch UMLS:C5394563 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:5961 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:IKBKG semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch ncbigene:8517 semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch UMLS:C1424892 semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:17310 semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:TIMM17B semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch ncbigene:10245 semapv:UnspecifiedMatching +OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:8992 semapv:UnspecifiedMatching +OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:PIN4 semapv:UnspecifiedMatching +OMIM:300252 PIN4 skos:exactMatch ncbigene:5303 semapv:UnspecifiedMatching +OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:18186 semapv:UnspecifiedMatching +OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:GPR173 semapv:UnspecifiedMatching +OMIM:300253 GPR173 skos:exactMatch ncbigene:54328 semapv:UnspecifiedMatching +OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:11479 semapv:UnspecifiedMatching +OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:SUV39H1 semapv:UnspecifiedMatching +OMIM:300254 SUV39H1 skos:exactMatch ncbigene:6839 semapv:UnspecifiedMatching +OMIM:300255 OGT skos:exactMatch hgnc.symbol:8127 semapv:UnspecifiedMatching +OMIM:300255 OGT skos:exactMatch hgnc.symbol:OGT semapv:UnspecifiedMatching +OMIM:300255 OGT skos:exactMatch ncbigene:8473 semapv:UnspecifiedMatching +OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:4800 semapv:UnspecifiedMatching +OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:HSD17B10 semapv:UnspecifiedMatching +OMIM:300256 HSD17B10 skos:exactMatch ncbigene:3028 semapv:UnspecifiedMatching +OMIM:300257 danon disease skos:exactMatch MONDO:0010281 semapv:UnspecifiedMatching +OMIM:300257 danon disease skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching +OMIM:300257 danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching +OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch MONDO:0010282 semapv:UnspecifiedMatching +OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs iia skos:exactMatch MONDO:0010283 semapv:UnspecifiedMatching +OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch MONDO:0010284 semapv:UnspecifiedMatching +OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching +OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching +OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi iia skos:exactMatch MONDO:0010285 semapv:UnspecifiedMatching +OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch MONDO:0010286 semapv:UnspecifiedMatching +OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching +OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching +OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:12509 semapv:UnspecifiedMatching +OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:UBQLN2 semapv:UnspecifiedMatching +OMIM:300264 UBQLN2 skos:exactMatch ncbigene:29978 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C1421583 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch UMLS:C4016468 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:12874 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:ZIC3 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch ncbigene:7547 semapv:UnspecifiedMatching +OMIM:300266 spastic paraplegia 16, X-linked skos:exactMatch MONDO:0010287 semapv:UnspecifiedMatching +OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:685 semapv:UnspecifiedMatching +OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:ARHGEF6 semapv:UnspecifiedMatching +OMIM:300267 ARHGEF6 skos:exactMatch ncbigene:9459 semapv:UnspecifiedMatching +OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:13315 semapv:UnspecifiedMatching +OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:HDAC8 semapv:UnspecifiedMatching +OMIM:300269 HDAC8 skos:exactMatch ncbigene:55869 semapv:UnspecifiedMatching +OMIM:300270 adrenomyodystrophy skos:exactMatch MONDO:0010288 semapv:UnspecifiedMatching +OMIM:300271 intellectual developmental disorder, X-linked 72 skos:exactMatch MONDO:0010289 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch UMLS:C1333895 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch UMLS:C3275476 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:14064 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:HDAC6 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch ncbigene:10013 semapv:UnspecifiedMatching +OMIM:300273 goiter, multinodular 2 skos:exactMatch MONDO:0010290 semapv:UnspecifiedMatching +OMIM:300274 skos:exactMatch MONDO:0010291 semapv:UnspecifiedMatching +OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:13398 semapv:UnspecifiedMatching +OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:NSDHL semapv:UnspecifiedMatching +OMIM:300275 NSDHL skos:exactMatch ncbigene:50814 semapv:UnspecifiedMatching +OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:17756 semapv:UnspecifiedMatching +OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:EDA2R semapv:UnspecifiedMatching +OMIM:300276 EDA2R skos:exactMatch ncbigene:60401 semapv:UnspecifiedMatching +OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:5997 semapv:UnspecifiedMatching +OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:IL1RAPL2 semapv:UnspecifiedMatching +OMIM:300277 IL1RAPL2 skos:exactMatch ncbigene:26280 semapv:UnspecifiedMatching +OMIM:300278 NYX skos:exactMatch hgnc.symbol:8082 semapv:UnspecifiedMatching +OMIM:300278 NYX skos:exactMatch hgnc.symbol:NYX semapv:UnspecifiedMatching +OMIM:300278 NYX skos:exactMatch ncbigene:60506 semapv:UnspecifiedMatching +OMIM:300280 uruguay faciocardiomusculoskeletal syndrome skos:exactMatch MONDO:0010292 semapv:UnspecifiedMatching +OMIM:300280 uruguay faciocardiomusculoskeletal syndrome skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching +OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:6237 semapv:UnspecifiedMatching +OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:KCND1 semapv:UnspecifiedMatching +OMIM:300281 KCND1 skos:exactMatch ncbigene:3750 semapv:UnspecifiedMatching +OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:2259 semapv:UnspecifiedMatching +OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:ENOX2 semapv:UnspecifiedMatching +OMIM:300282 ENOX2 skos:exactMatch ncbigene:10495 semapv:UnspecifiedMatching +OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:6112 semapv:UnspecifiedMatching +OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:IRAK1 semapv:UnspecifiedMatching +OMIM:300283 IRAK1 skos:exactMatch ncbigene:3654 semapv:UnspecifiedMatching +OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:9792 semapv:UnspecifiedMatching +OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:RAB9A semapv:UnspecifiedMatching +OMIM:300284 RAB9 skos:exactMatch ncbigene:9367 semapv:UnspecifiedMatching +OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:14090 semapv:UnspecifiedMatching +OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:RAB9B semapv:UnspecifiedMatching +OMIM:300285 RAB9B skos:exactMatch ncbigene:51209 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch UMLS:C1416663 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:6351 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:KLF8 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch ncbigene:11279 semapv:UnspecifiedMatching +OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:4108 semapv:UnspecifiedMatching +OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:PAGE4 semapv:UnspecifiedMatching +OMIM:300287 PAGE4 skos:exactMatch ncbigene:9506 semapv:UnspecifiedMatching +OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:4107 semapv:UnspecifiedMatching +OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:PAGE1 semapv:UnspecifiedMatching +OMIM:300288 PAGE1 skos:exactMatch ncbigene:8712 semapv:UnspecifiedMatching +OMIM:300289 XAGE1B skos:exactMatch hgnc.symbol:25400 semapv:UnspecifiedMatching +OMIM:300289 XAGE1B skos:exactMatch hgnc.symbol:XAGE1B semapv:UnspecifiedMatching +OMIM:300289 XAGE1B skos:exactMatch ncbigene:653067 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch MONDO:0020740 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:69088 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1845919 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846006 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch UMLS:C0342288 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch UMLS:C1416467 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:6106 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:FOXP3 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch ncbigene:50943 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C1423501 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3806745 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3887525 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C4746956 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:15455 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:MBTPS2 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch ncbigene:51360 semapv:UnspecifiedMatching +OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:8987 semapv:UnspecifiedMatching +OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:PIM2 semapv:UnspecifiedMatching +OMIM:300295 PIM2 skos:exactMatch ncbigene:11040 semapv:UnspecifiedMatching +OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:9044 semapv:UnspecifiedMatching +OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:PLAC1 semapv:UnspecifiedMatching +OMIM:300296 PLAC1 skos:exactMatch ncbigene:10761 semapv:UnspecifiedMatching +OMIM:300297 APLN skos:exactMatch hgnc.symbol:16665 semapv:UnspecifiedMatching +OMIM:300297 APLN skos:exactMatch hgnc.symbol:APLN semapv:UnspecifiedMatching +OMIM:300297 APLN skos:exactMatch ncbigene:8862 semapv:UnspecifiedMatching +OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:20439 semapv:UnspecifiedMatching +OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:UPF3B semapv:UnspecifiedMatching +OMIM:300298 UPF3B skos:exactMatch ncbigene:65109 semapv:UnspecifiedMatching +OMIM:300299 neutropenia, severe congenital, X-linked skos:exactMatch MONDO:0010294 semapv:UnspecifiedMatching +OMIM:300300 BTK skos:exactMatch hgnc.symbol:1133 semapv:UnspecifiedMatching +OMIM:300300 BTK skos:exactMatch hgnc.symbol:BTK semapv:UnspecifiedMatching +OMIM:300300 BTK skos:exactMatch ncbigene:695 semapv:UnspecifiedMatching +OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:11694 semapv:UnspecifiedMatching +OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:DYNLT3 semapv:UnspecifiedMatching +OMIM:300302 DYNLT3 skos:exactMatch ncbigene:6990 semapv:UnspecifiedMatching +OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:10435 semapv:UnspecifiedMatching +OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:RPS6KA6 semapv:UnspecifiedMatching +OMIM:300303 RPS6KA6 skos:exactMatch ncbigene:27330 semapv:UnspecifiedMatching +OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:2555 semapv:UnspecifiedMatching +OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:CUL4B semapv:UnspecifiedMatching +OMIM:300304 CUL4B skos:exactMatch ncbigene:8450 semapv:UnspecifiedMatching +OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:11218 semapv:UnspecifiedMatching +OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:SPANXA1 semapv:UnspecifiedMatching +OMIM:300305 SPANXA1 skos:exactMatch ncbigene:30014 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch UMLS:C1420611 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch UMLS:C1844830 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch UMLS:C1844831 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch UMLS:C1844862 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:11600 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:TBX22 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch ncbigene:50945 semapv:UnspecifiedMatching +OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:3987 semapv:UnspecifiedMatching +OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:FTHL17 semapv:UnspecifiedMatching +OMIM:300308 FTHL17 skos:exactMatch ncbigene:53940 semapv:UnspecifiedMatching +OMIM:300309 USP26 skos:exactMatch hgnc.symbol:13485 semapv:UnspecifiedMatching +OMIM:300309 USP26 skos:exactMatch hgnc.symbol:USP26 semapv:UnspecifiedMatching +OMIM:300309 USP26 skos:exactMatch ncbigene:83844 semapv:UnspecifiedMatching +OMIM:300310 immunodeficiency 61 skos:exactMatch MONDO:0010296 semapv:UnspecifiedMatching +OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:11733 semapv:UnspecifiedMatching +OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:TEX11 semapv:UnspecifiedMatching +OMIM:300311 TEX11 skos:exactMatch ncbigene:56159 semapv:UnspecifiedMatching +OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:11735 semapv:UnspecifiedMatching +OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:TEX13A semapv:UnspecifiedMatching +OMIM:300312 TEX13A skos:exactMatch ncbigene:56157 semapv:UnspecifiedMatching +OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:11736 semapv:UnspecifiedMatching +OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:TEX13B semapv:UnspecifiedMatching +OMIM:300313 TEX13B skos:exactMatch ncbigene:56156 semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch UMLS:C1420574 semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:11548 semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:TAF7L semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch ncbigene:54457 semapv:UnspecifiedMatching +OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:8072 semapv:UnspecifiedMatching +OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:NXF2 semapv:UnspecifiedMatching +OMIM:300315 NXF2 skos:exactMatch ncbigene:56001 semapv:UnspecifiedMatching +OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:8073 semapv:UnspecifiedMatching +OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:NXF3 semapv:UnspecifiedMatching +OMIM:300316 NXF3 skos:exactMatch ncbigene:56000 semapv:UnspecifiedMatching +OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:9963 semapv:UnspecifiedMatching +OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:REPS2 semapv:UnspecifiedMatching +OMIM:300317 REPS2 skos:exactMatch ncbigene:9185 semapv:UnspecifiedMatching +OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:8074 semapv:UnspecifiedMatching +OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:NXF4 semapv:UnspecifiedMatching +OMIM:300318 NXF4 skos:exactMatch ncbigene:55999 semapv:UnspecifiedMatching +OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:8075 semapv:UnspecifiedMatching +OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:NXF5 semapv:UnspecifiedMatching +OMIM:300319 NXF5 skos:exactMatch ncbigene:55998 semapv:UnspecifiedMatching +OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:18151 semapv:UnspecifiedMatching +OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:NXT2 semapv:UnspecifiedMatching +OMIM:300320 NXT2 skos:exactMatch ncbigene:55916 semapv:UnspecifiedMatching +OMIM:300321 fg syndrome 2 skos:exactMatch MONDO:0010297 semapv:UnspecifiedMatching +OMIM:300322 lesch-nyhan syndrome skos:exactMatch MONDO:0010298 semapv:UnspecifiedMatching +OMIM:300322 lesch-nyhan syndrome skos:exactMatch Orphanet:510 semapv:UnspecifiedMatching +OMIM:300322 lesch-nyhan syndrome skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching +OMIM:300323 hyperuricemia, hprt-related skos:exactMatch MONDO:0010299 semapv:UnspecifiedMatching +OMIM:300323 hyperuricemia, hprt-related skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching +OMIM:300323 hyperuricemia, hprt-related skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching +OMIM:300324 intellectual developmental disorder, X-linked 53 skos:exactMatch MONDO:0010300 semapv:UnspecifiedMatching +OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:11337 semapv:UnspecifiedMatching +OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:SSX3 semapv:UnspecifiedMatching +OMIM:300325 SSX3 skos:exactMatch ncbigene:10214 semapv:UnspecifiedMatching +OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:11338 semapv:UnspecifiedMatching +OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:SSX4 semapv:UnspecifiedMatching +OMIM:300326 SSX4 skos:exactMatch ncbigene:6759 semapv:UnspecifiedMatching +OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:11339 semapv:UnspecifiedMatching +OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:SSX5 semapv:UnspecifiedMatching +OMIM:300327 SSX5 skos:exactMatch ncbigene:6758 semapv:UnspecifiedMatching +OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:6241 semapv:UnspecifiedMatching +OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:KCNE5 semapv:UnspecifiedMatching +OMIM:300328 KCNE1L skos:exactMatch ncbigene:23630 semapv:UnspecifiedMatching +OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:16682 semapv:UnspecifiedMatching +OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:ZBTB33 semapv:UnspecifiedMatching +OMIM:300329 ZBTB33 skos:exactMatch ncbigene:10009 semapv:UnspecifiedMatching +OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:14331 semapv:UnspecifiedMatching +OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:SPANXC semapv:UnspecifiedMatching +OMIM:300330 SPANXC skos:exactMatch ncbigene:64663 semapv:UnspecifiedMatching +OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:6154 semapv:UnspecifiedMatching +OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:ITGB1BP2 semapv:UnspecifiedMatching +OMIM:300332 ITGB1BP2 skos:exactMatch ncbigene:26548 semapv:UnspecifiedMatching +OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:9773 semapv:UnspecifiedMatching +OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:RAB33A semapv:UnspecifiedMatching +OMIM:300333 RAB33A skos:exactMatch ncbigene:9363 semapv:UnspecifiedMatching +OMIM:300334 TRPC5 skos:exactMatch UMLS:C1421172 semapv:UnspecifiedMatching +OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:12337 semapv:UnspecifiedMatching +OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:TRPC5 semapv:UnspecifiedMatching +OMIM:300334 TRPC5 skos:exactMatch ncbigene:7224 semapv:UnspecifiedMatching +OMIM:300335 ACE2 skos:exactMatch UMLS:C1422064 semapv:UnspecifiedMatching +OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:13557 semapv:UnspecifiedMatching +OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:ACE2 semapv:UnspecifiedMatching +OMIM:300335 ACE2 skos:exactMatch ncbigene:59272 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch UMLS:C1422546 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch UMLS:C1845540 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch UMLS:C3151708 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:14289 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:NLGN3 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch ncbigene:54413 semapv:UnspecifiedMatching +OMIM:300337 hypomelanosis of ito skos:exactMatch MONDO:0010302 semapv:UnspecifiedMatching +OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:2149 semapv:UnspecifiedMatching +OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:CNGA2 semapv:UnspecifiedMatching +OMIM:300338 CNGA2 skos:exactMatch ncbigene:1260 semapv:UnspecifiedMatching +OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:13417 semapv:UnspecifiedMatching +OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:PPP2R3B semapv:UnspecifiedMatching +OMIM:300339 PPP2R3B skos:exactMatch ncbigene:28227 semapv:UnspecifiedMatching +OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:6803 semapv:UnspecifiedMatching +OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:MAGEA5P semapv:UnspecifiedMatching +OMIM:300340 MAGEA5 skos:exactMatch ncbigene:4104 semapv:UnspecifiedMatching +OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:6806 semapv:UnspecifiedMatching +OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:MAGEA8 semapv:UnspecifiedMatching +OMIM:300341 MAGEA8 skos:exactMatch ncbigene:4107 semapv:UnspecifiedMatching +OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:6807 semapv:UnspecifiedMatching +OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:MAGEA9 semapv:UnspecifiedMatching +OMIM:300342 MAGEA9 skos:exactMatch ncbigene:4108 semapv:UnspecifiedMatching +OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:6797 semapv:UnspecifiedMatching +OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:MAGEA10 semapv:UnspecifiedMatching +OMIM:300343 MAGEA10 skos:exactMatch ncbigene:4109 semapv:UnspecifiedMatching +OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:6798 semapv:UnspecifiedMatching +OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:MAGEA11 semapv:UnspecifiedMatching +OMIM:300344 MAGEA11 skos:exactMatch ncbigene:4110 semapv:UnspecifiedMatching +OMIM:300345 microphthalmia, isolated, with coloboma 1 skos:exactMatch MONDO:0024549 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch UMLS:C1415794 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:5276 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:HTATSF1 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch ncbigene:27336 semapv:UnspecifiedMatching +OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:16972 semapv:UnspecifiedMatching +OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:DIAPH2-AS1 semapv:UnspecifiedMatching +OMIM:300347 DIAPH2AS1 skos:exactMatch ncbigene:10824 semapv:UnspecifiedMatching +OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:6355 semapv:UnspecifiedMatching +OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:KLHL4 semapv:UnspecifiedMatching +OMIM:300348 KLHL4 skos:exactMatch ncbigene:56062 semapv:UnspecifiedMatching +OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:14454 semapv:UnspecifiedMatching +OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:GABRQ semapv:UnspecifiedMatching +OMIM:300349 GABRQ skos:exactMatch ncbigene:55879 semapv:UnspecifiedMatching +OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:29861 semapv:UnspecifiedMatching +OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:CHRDL1 semapv:UnspecifiedMatching +OMIM:300350 CHRDL1 skos:exactMatch ncbigene:91851 semapv:UnspecifiedMatching +OMIM:300351 graves disease, susceptibility to, X-linked 1 skos:exactMatch MONDO:0010304 semapv:UnspecifiedMatching +OMIM:300352 cerebral creatine deficiency syndrome 1 skos:exactMatch MONDO:0010305 semapv:UnspecifiedMatching +OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:17032 semapv:UnspecifiedMatching +OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:VSIG4 semapv:UnspecifiedMatching +OMIM:300353 VSIG4 skos:exactMatch ncbigene:11326 semapv:UnspecifiedMatching +OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia skos:exactMatch MONDO:0010306 semapv:UnspecifiedMatching +OMIM:300355 intellectual developmental disorder, X-linked 73 skos:exactMatch MONDO:0010307 semapv:UnspecifiedMatching +OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:11817 semapv:UnspecifiedMatching +OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:TIMM8A semapv:UnspecifiedMatching +OMIM:300356 TIMM8A skos:exactMatch ncbigene:1678 semapv:UnspecifiedMatching +OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:14281 semapv:UnspecifiedMatching +OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching +OMIM:300357 CRLF2 skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching +OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:14543 semapv:UnspecifiedMatching +OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:WNK3 semapv:UnspecifiedMatching +OMIM:300358 WNK3 skos:exactMatch ncbigene:65267 semapv:UnspecifiedMatching +OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:30369 semapv:UnspecifiedMatching +OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:SAGE1 semapv:UnspecifiedMatching +OMIM:300359 SAGE1 skos:exactMatch ncbigene:55511 semapv:UnspecifiedMatching +OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:13388 semapv:UnspecifiedMatching +OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:BEX3 semapv:UnspecifiedMatching +OMIM:300361 NGFRAP1 skos:exactMatch ncbigene:27018 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch UMLS:C1538939 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:18073 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:ARMCX1 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch ncbigene:51309 semapv:UnspecifiedMatching +OMIM:300363 ARMCX2 skos:exactMatch UMLS:C1538940 semapv:UnspecifiedMatching +OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:16869 semapv:UnspecifiedMatching +OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:ARMCX2 semapv:UnspecifiedMatching +OMIM:300363 ARMCX2 skos:exactMatch ncbigene:9823 semapv:UnspecifiedMatching +OMIM:300364 ARMCX3 skos:exactMatch UMLS:C1538941 semapv:UnspecifiedMatching +OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:24065 semapv:UnspecifiedMatching +OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:ARMCX3 semapv:UnspecifiedMatching +OMIM:300364 ARMCX3 skos:exactMatch ncbigene:51566 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch UMLS:C1336639 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch UMLS:C5436946 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:15631 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:TLR7 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch ncbigene:51284 semapv:UnspecifiedMatching +OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:15632 semapv:UnspecifiedMatching +OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:TLR8 semapv:UnspecifiedMatching +OMIM:300366 TLR8 skos:exactMatch ncbigene:51311 semapv:UnspecifiedMatching +OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia skos:exactMatch MONDO:0010308 semapv:UnspecifiedMatching +OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:17123 semapv:UnspecifiedMatching +OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:SLC9A7 semapv:UnspecifiedMatching +OMIM:300368 SLC9A7 skos:exactMatch ncbigene:84679 semapv:UnspecifiedMatching +OMIM:300369 GCNA skos:exactMatch hgnc.symbol:15805 semapv:UnspecifiedMatching +OMIM:300369 GCNA skos:exactMatch hgnc.symbol:GCNA semapv:UnspecifiedMatching +OMIM:300369 GCNA skos:exactMatch ncbigene:93953 semapv:UnspecifiedMatching +OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:12270 semapv:UnspecifiedMatching +OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:TREX2 semapv:UnspecifiedMatching +OMIM:300370 TREX2 skos:exactMatch ncbigene:11219 semapv:UnspecifiedMatching +OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:61 semapv:UnspecifiedMatching +OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:ABCD1 semapv:UnspecifiedMatching +OMIM:300371 ABCD1 skos:exactMatch ncbigene:215 semapv:UnspecifiedMatching +OMIM:300372 intellectual developmental disorder, X-linked 42 skos:exactMatch MONDO:0010309 semapv:UnspecifiedMatching +OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch MONDO:0010310 semapv:UnspecifiedMatching +OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching +OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching +OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:13867 semapv:UnspecifiedMatching +OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:SH3KBP1 semapv:UnspecifiedMatching +OMIM:300374 SH3KBP1 skos:exactMatch ncbigene:30011 semapv:UnspecifiedMatching +OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:13817 semapv:UnspecifiedMatching +OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:CHST7 semapv:UnspecifiedMatching +OMIM:300375 CHST7 skos:exactMatch ncbigene:56548 semapv:UnspecifiedMatching +OMIM:300376 muscular dystrophy, becker iia skos:exactMatch MONDO:0010311 semapv:UnspecifiedMatching +OMIM:300377 DMD skos:exactMatch hgnc.symbol:2928 semapv:UnspecifiedMatching +OMIM:300377 DMD skos:exactMatch hgnc.symbol:DMD semapv:UnspecifiedMatching +OMIM:300377 DMD skos:exactMatch ncbigene:1756 semapv:UnspecifiedMatching +OMIM:300378 radial ray deficiency, X-linked skos:exactMatch MONDO:0010312 semapv:UnspecifiedMatching +OMIM:300379 RLIM skos:exactMatch hgnc.symbol:13429 semapv:UnspecifiedMatching +OMIM:300379 RLIM skos:exactMatch hgnc.symbol:RLIM semapv:UnspecifiedMatching +OMIM:300379 RLIM skos:exactMatch ncbigene:51132 semapv:UnspecifiedMatching +OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:2520 semapv:UnspecifiedMatching +OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:CTPS2 semapv:UnspecifiedMatching +OMIM:300380 CTPS2 skos:exactMatch ncbigene:56474 semapv:UnspecifiedMatching +OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:12976 semapv:UnspecifiedMatching +OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:ZNF185 semapv:UnspecifiedMatching +OMIM:300381 ZNF185 skos:exactMatch ncbigene:7739 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C1425272 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C1846172 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch hgnc.symbol:18060 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch hgnc.symbol:ARX semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch ncbigene:170302 semapv:UnspecifiedMatching +OMIM:300383 CFP skos:exactMatch hgnc.symbol:8864 semapv:UnspecifiedMatching +OMIM:300383 CFP skos:exactMatch hgnc.symbol:CFP semapv:UnspecifiedMatching +OMIM:300383 CFP skos:exactMatch ncbigene:5199 semapv:UnspecifiedMatching +OMIM:300384 EMD skos:exactMatch hgnc.symbol:3331 semapv:UnspecifiedMatching +OMIM:300384 EMD skos:exactMatch hgnc.symbol:EMD semapv:UnspecifiedMatching +OMIM:300384 EMD skos:exactMatch ncbigene:2010 semapv:UnspecifiedMatching +OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:8013 semapv:UnspecifiedMatching +OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:HMGN5 semapv:UnspecifiedMatching +OMIM:300385 NSBP1 skos:exactMatch ncbigene:79366 semapv:UnspecifiedMatching +OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:11935 semapv:UnspecifiedMatching +OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:CD40LG semapv:UnspecifiedMatching +OMIM:300386 CD40LG skos:exactMatch ncbigene:959 semapv:UnspecifiedMatching +OMIM:300387 intellectual developmental disorder, X-linked 63 skos:exactMatch MONDO:0010313 semapv:UnspecifiedMatching +OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked skos:exactMatch MONDO:0010314 semapv:UnspecifiedMatching +OMIM:300390 CHM skos:exactMatch hgnc.symbol:1940 semapv:UnspecifiedMatching +OMIM:300390 CHM skos:exactMatch hgnc.symbol:CHM semapv:UnspecifiedMatching +OMIM:300390 CHM skos:exactMatch ncbigene:1121 semapv:UnspecifiedMatching +OMIM:300391 AMELX skos:exactMatch hgnc.symbol:461 semapv:UnspecifiedMatching +OMIM:300391 AMELX skos:exactMatch hgnc.symbol:AMELX semapv:UnspecifiedMatching +OMIM:300391 AMELX skos:exactMatch ncbigene:265 semapv:UnspecifiedMatching +OMIM:300392 WAS skos:exactMatch hgnc.symbol:12731 semapv:UnspecifiedMatching +OMIM:300392 WAS skos:exactMatch hgnc.symbol:WAS semapv:UnspecifiedMatching +OMIM:300392 WAS skos:exactMatch ncbigene:7454 semapv:UnspecifiedMatching +OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:14963 semapv:UnspecifiedMatching +OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:GPR101 semapv:UnspecifiedMatching +OMIM:300393 GPR101 skos:exactMatch ncbigene:83550 semapv:UnspecifiedMatching +OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:11577 semapv:UnspecifiedMatching +OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:TAFAZZIN semapv:UnspecifiedMatching +OMIM:300394 TAFAZZIN skos:exactMatch ncbigene:6901 semapv:UnspecifiedMatching +OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:19073 semapv:UnspecifiedMatching +OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:THOC2 semapv:UnspecifiedMatching +OMIM:300395 THOC2 skos:exactMatch ncbigene:57187 semapv:UnspecifiedMatching +OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:2492 semapv:UnspecifiedMatching +OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:CTAG2 semapv:UnspecifiedMatching +OMIM:300396 CTAG2 skos:exactMatch ncbigene:30848 semapv:UnspecifiedMatching +OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:16695 semapv:UnspecifiedMatching +OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:BCAP31 semapv:UnspecifiedMatching +OMIM:300398 BCAP31 skos:exactMatch ncbigene:10134 semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch UMLS:C1424886 semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:17301 semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:PCSK1N semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch ncbigene:27344 semapv:UnspecifiedMatching +OMIM:300400 severe combined immunodeficiency, X-linked skos:exactMatch MONDO:0010315 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C0751604 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C0751915 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C1418654 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C4016483 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch UMLS:C4016484 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:9086 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:PLP1 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch ncbigene:5354 semapv:UnspecifiedMatching +OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:6548 semapv:UnspecifiedMatching +OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:LDOC1 semapv:UnspecifiedMatching +OMIM:300402 LDOC1 skos:exactMatch ncbigene:23641 semapv:UnspecifiedMatching +OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:20372 semapv:UnspecifiedMatching +OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:NDUFB11 semapv:UnspecifiedMatching +OMIM:300403 NDUFB11 skos:exactMatch ncbigene:54539 semapv:UnspecifiedMatching +OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:25410 semapv:UnspecifiedMatching +OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:RAB40AL semapv:UnspecifiedMatching +OMIM:300405 RAB40AL skos:exactMatch ncbigene:282808 semapv:UnspecifiedMatching +OMIM:300406 fg syndrome 3 skos:exactMatch MONDO:0010316 semapv:UnspecifiedMatching +OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:13629 semapv:UnspecifiedMatching +OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:PABPC5 semapv:UnspecifiedMatching +OMIM:300407 PABPC5 skos:exactMatch ncbigene:140886 semapv:UnspecifiedMatching +OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:18706 semapv:UnspecifiedMatching +OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:GRIPAP1 semapv:UnspecifiedMatching +OMIM:300408 GRIPAP1 skos:exactMatch ncbigene:56850 semapv:UnspecifiedMatching +OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:16849 semapv:UnspecifiedMatching +OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:MORF4L2 semapv:UnspecifiedMatching +OMIM:300409 MORF4L2 skos:exactMatch ncbigene:9643 semapv:UnspecifiedMatching +OMIM:300410 AMOT skos:exactMatch hgnc.symbol:17810 semapv:UnspecifiedMatching +OMIM:300410 AMOT skos:exactMatch hgnc.symbol:AMOT semapv:UnspecifiedMatching +OMIM:300410 AMOT skos:exactMatch ncbigene:154796 semapv:UnspecifiedMatching +OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:18570 semapv:UnspecifiedMatching +OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:TGIF2LX semapv:UnspecifiedMatching +OMIM:300411 TGIF2LX skos:exactMatch ncbigene:90316 semapv:UnspecifiedMatching +OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:20564 semapv:UnspecifiedMatching +OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:MBNL3 semapv:UnspecifiedMatching +OMIM:300413 MBNL3 skos:exactMatch ncbigene:55796 semapv:UnspecifiedMatching +OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:18145 semapv:UnspecifiedMatching +OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:PHF6 semapv:UnspecifiedMatching +OMIM:300414 PHF6 skos:exactMatch ncbigene:84295 semapv:UnspecifiedMatching +OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:7448 semapv:UnspecifiedMatching +OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:MTM1 semapv:UnspecifiedMatching +OMIM:300415 MTM1 skos:exactMatch ncbigene:4534 semapv:UnspecifiedMatching +OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:4112 semapv:UnspecifiedMatching +OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:XAGE2 semapv:UnspecifiedMatching +OMIM:300416 XAGE2 skos:exactMatch ncbigene:9502 semapv:UnspecifiedMatching +OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:24834 semapv:UnspecifiedMatching +OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:GPRASP1 semapv:UnspecifiedMatching +OMIM:300417 GPRASP1 skos:exactMatch ncbigene:9737 semapv:UnspecifiedMatching +OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:4622 semapv:UnspecifiedMatching +OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:GSPT2 semapv:UnspecifiedMatching +OMIM:300418 GSPT2 skos:exactMatch ncbigene:23708 semapv:UnspecifiedMatching +OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch MONDO:0010317 semapv:UnspecifiedMatching +OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching +OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching +OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:16648 semapv:UnspecifiedMatching +OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:PJA1 semapv:UnspecifiedMatching +OMIM:300420 PJA1 skos:exactMatch ncbigene:64219 semapv:UnspecifiedMatching +OMIM:300422 fg syndrome 4 skos:exactMatch MONDO:0010318 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch MONDO:0010319 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:93952 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching +OMIM:300424 retinitis pigmentosa 23 skos:exactMatch MONDO:0010320 semapv:UnspecifiedMatching +OMIM:300424 retinitis pigmentosa 23 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:300424 retinitis pigmentosa 23 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching +OMIM:300425 autism, susceptibility to, X-linked 1 skos:exactMatch MONDO:0010321 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C1136249 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C1538067 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C1845539 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch UMLS:C3151722 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:14287 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:NLGN4X semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch ncbigene:57502 semapv:UnspecifiedMatching +OMIM:300428 intellectual developmental disorder, X-linked 2 skos:exactMatch MONDO:0010322 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1422758 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:14561 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:ARHGEF9 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch ncbigene:23229 semapv:UnspecifiedMatching +OMIM:300431 atkin-flaitz syndrome skos:exactMatch MONDO:0010323 semapv:UnspecifiedMatching +OMIM:300431 atkin-flaitz syndrome skos:exactMatch Orphanet:1193 semapv:UnspecifiedMatching +OMIM:300431 atkin-flaitz syndrome skos:exactMatch UMLS:C0796206 semapv:UnspecifiedMatching +OMIM:300433 intellectual developmental disorder, X-linked 81 skos:exactMatch MONDO:0010324 semapv:UnspecifiedMatching +OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia skos:exactMatch MONDO:0010325 semapv:UnspecifiedMatching +OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:16090 semapv:UnspecifiedMatching +OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:PGRMC1 semapv:UnspecifiedMatching +OMIM:300435 PGRMC1 skos:exactMatch ncbigene:10857 semapv:UnspecifiedMatching +OMIM:300436 intellectual developmental disorder, X-linked 46 skos:exactMatch MONDO:0010326 semapv:UnspecifiedMatching +OMIM:300437 ERAS skos:exactMatch hgnc.symbol:5174 semapv:UnspecifiedMatching +OMIM:300437 ERAS skos:exactMatch hgnc.symbol:ERAS semapv:UnspecifiedMatching +OMIM:300437 ERAS skos:exactMatch ncbigene:3266 semapv:UnspecifiedMatching +OMIM:300438 hsd10 mitochondrial disease skos:exactMatch MONDO:0010327 semapv:UnspecifiedMatching +OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:21153 semapv:UnspecifiedMatching +OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:RNF128 semapv:UnspecifiedMatching +OMIM:300439 RNF128 skos:exactMatch ncbigene:79589 semapv:UnspecifiedMatching +OMIM:300440 NKRF skos:exactMatch hgnc.symbol:19374 semapv:UnspecifiedMatching +OMIM:300440 NKRF skos:exactMatch hgnc.symbol:NKRF semapv:UnspecifiedMatching +OMIM:300440 NKRF skos:exactMatch ncbigene:55922 semapv:UnspecifiedMatching +OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:15975 semapv:UnspecifiedMatching +OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:SASH3 semapv:UnspecifiedMatching +OMIM:300441 SASH3 skos:exactMatch ncbigene:54440 semapv:UnspecifiedMatching +OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:11061 semapv:UnspecifiedMatching +OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:SLC7A3 semapv:UnspecifiedMatching +OMIM:300443 SLC7A3 skos:exactMatch ncbigene:84889 semapv:UnspecifiedMatching +OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:11047 semapv:UnspecifiedMatching +OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:SLC6A14 semapv:UnspecifiedMatching +OMIM:300444 SLC6A14 skos:exactMatch ncbigene:11254 semapv:UnspecifiedMatching +OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:14455 semapv:UnspecifiedMatching +OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:H2AB3 semapv:UnspecifiedMatching +OMIM:300445 H2AB3 skos:exactMatch ncbigene:83740 semapv:UnspecifiedMatching +OMIM:300446 RHOXF1 skos:exactMatch UMLS:C1845515 semapv:UnspecifiedMatching +OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:29993 semapv:UnspecifiedMatching +OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:RHOXF1 semapv:UnspecifiedMatching +OMIM:300446 RHOXF1 skos:exactMatch ncbigene:158800 semapv:UnspecifiedMatching +OMIM:300447 RHOXF2 skos:exactMatch UMLS:C1845514 semapv:UnspecifiedMatching +OMIM:300447 RHOXF2 skos:exactMatch hgnc.symbol:30011 semapv:UnspecifiedMatching +OMIM:300447 RHOXF2 skos:exactMatch hgnc.symbol:RHOXF2 semapv:UnspecifiedMatching +OMIM:300447 RHOXF2 skos:exactMatch ncbigene:84528 semapv:UnspecifiedMatching +OMIM:300448 alpha-thalassemia myelodysplasia syndrome skos:exactMatch MONDO:0010328 semapv:UnspecifiedMatching +OMIM:300450 FATE1 skos:exactMatch hgnc.symbol:24683 semapv:UnspecifiedMatching +OMIM:300450 FATE1 skos:exactMatch hgnc.symbol:FATE1 semapv:UnspecifiedMatching +OMIM:300450 FATE1 skos:exactMatch ncbigene:89885 semapv:UnspecifiedMatching +OMIM:300451 EDA skos:exactMatch hgnc.symbol:3157 semapv:UnspecifiedMatching +OMIM:300451 EDA skos:exactMatch hgnc.symbol:EDA semapv:UnspecifiedMatching +OMIM:300451 EDA skos:exactMatch ncbigene:1896 semapv:UnspecifiedMatching +OMIM:300452 INGX skos:exactMatch hgnc.symbol:6064 semapv:UnspecifiedMatching +OMIM:300452 INGX skos:exactMatch hgnc.symbol:INGX semapv:UnspecifiedMatching +OMIM:300452 INGX skos:exactMatch ncbigene:27160 semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch UMLS:C1539454 semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:18786 semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:FAM50A semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch ncbigene:9130 semapv:UnspecifiedMatching +OMIM:300454 intellectual developmental disorder, X-linked 77 skos:exactMatch MONDO:0010329 semapv:UnspecifiedMatching +OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness skos:exactMatch MONDO:0010330 semapv:UnspecifiedMatching +OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:18709 semapv:UnspecifiedMatching +OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:CCNB3 semapv:UnspecifiedMatching +OMIM:300456 CCNB3 skos:exactMatch ncbigene:85417 semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch UMLS:C1417725 semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch UMLS:C4049004 semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch hgnc.symbol:7820 semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch hgnc.symbol:NHS semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch ncbigene:4810 semapv:UnspecifiedMatching +OMIM:300459 TNMD skos:exactMatch hgnc.symbol:17757 semapv:UnspecifiedMatching +OMIM:300459 TNMD skos:exactMatch hgnc.symbol:TNMD semapv:UnspecifiedMatching +OMIM:300459 TNMD skos:exactMatch ncbigene:64102 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch UMLS:C1422530 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:14270 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:PCDH19 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch ncbigene:57526 semapv:UnspecifiedMatching +OMIM:300461 OTC skos:exactMatch hgnc.symbol:8512 semapv:UnspecifiedMatching +OMIM:300461 OTC skos:exactMatch hgnc.symbol:OTC semapv:UnspecifiedMatching +OMIM:300461 OTC skos:exactMatch ncbigene:5009 semapv:UnspecifiedMatching +OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:24061 semapv:UnspecifiedMatching +OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:AKAP14 semapv:UnspecifiedMatching +OMIM:300462 AKAP14 skos:exactMatch ncbigene:158798 semapv:UnspecifiedMatching +OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:9330 semapv:UnspecifiedMatching +OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:PQBP1 semapv:UnspecifiedMatching +OMIM:300463 PQBP1 skos:exactMatch ncbigene:10084 semapv:UnspecifiedMatching +OMIM:300464 coronary heart disease, susceptibility to, 3 skos:exactMatch MONDO:0010331 semapv:UnspecifiedMatching +OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:23795 semapv:UnspecifiedMatching +OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:MAGEB5 semapv:UnspecifiedMatching +OMIM:300466 MAGEB5 skos:exactMatch ncbigene:347541 semapv:UnspecifiedMatching +OMIM:300467 MAGEB6 skos:exactMatch hgnc.symbol:23796 semapv:UnspecifiedMatching +OMIM:300467 MAGEB6 skos:exactMatch hgnc.symbol:MAGEB6 semapv:UnspecifiedMatching +OMIM:300467 MAGEB6 skos:exactMatch ncbigene:158809 semapv:UnspecifiedMatching +OMIM:300468 MAGEC2 skos:exactMatch hgnc.symbol:13574 semapv:UnspecifiedMatching +OMIM:300468 MAGEC2 skos:exactMatch hgnc.symbol:MAGEC2 semapv:UnspecifiedMatching +OMIM:300468 MAGEC2 skos:exactMatch ncbigene:51438 semapv:UnspecifiedMatching +OMIM:300469 MAGEC3 skos:exactMatch hgnc.symbol:23798 semapv:UnspecifiedMatching +OMIM:300469 MAGEC3 skos:exactMatch hgnc.symbol:MAGEC3 semapv:UnspecifiedMatching +OMIM:300469 MAGEC3 skos:exactMatch ncbigene:139081 semapv:UnspecifiedMatching +OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:16353 semapv:UnspecifiedMatching +OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:MAGED2 semapv:UnspecifiedMatching +OMIM:300470 MAGED2 skos:exactMatch ncbigene:10916 semapv:UnspecifiedMatching +OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies skos:exactMatch MONDO:0010332 semapv:UnspecifiedMatching +OMIM:300472 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia skos:exactMatch MONDO:0010333 semapv:UnspecifiedMatching +OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:7960 semapv:UnspecifiedMatching +OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:NR0B1 semapv:UnspecifiedMatching +OMIM:300473 NR0B1 skos:exactMatch ncbigene:190 semapv:UnspecifiedMatching +OMIM:300474 GK skos:exactMatch hgnc.symbol:4289 semapv:UnspecifiedMatching +OMIM:300474 GK skos:exactMatch hgnc.symbol:GK semapv:UnspecifiedMatching +OMIM:300474 GK skos:exactMatch ncbigene:2710 semapv:UnspecifiedMatching +OMIM:300475 deafness, dystonia, and cerebral hypomyelination skos:exactMatch MONDO:0010334 semapv:UnspecifiedMatching +OMIM:300476 cone-rod dystrophy, x-linked, 3 skos:exactMatch MONDO:0010335 semapv:UnspecifiedMatching +OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:18403 semapv:UnspecifiedMatching +OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:FAM9A semapv:UnspecifiedMatching +OMIM:300477 FAM9A skos:exactMatch ncbigene:171482 semapv:UnspecifiedMatching +OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:18404 semapv:UnspecifiedMatching +OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:FAM9B semapv:UnspecifiedMatching +OMIM:300478 FAM9B skos:exactMatch ncbigene:171483 semapv:UnspecifiedMatching +OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:18405 semapv:UnspecifiedMatching +OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:FAM9C semapv:UnspecifiedMatching +OMIM:300479 FAM9C skos:exactMatch ncbigene:171484 semapv:UnspecifiedMatching +OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:30681 semapv:UnspecifiedMatching +OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:TAB3 semapv:UnspecifiedMatching +OMIM:300480 TAB3 skos:exactMatch ncbigene:257397 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch UMLS:C1413844 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch UMLS:C1970859 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch UMLS:C4016486 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch hgnc.symbol:2578 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch hgnc.symbol:CYBB semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch ncbigene:1536 semapv:UnspecifiedMatching +OMIM:300482 GAB3 skos:exactMatch hgnc.symbol:17515 semapv:UnspecifiedMatching +OMIM:300482 GAB3 skos:exactMatch hgnc.symbol:GAB3 semapv:UnspecifiedMatching +OMIM:300482 GAB3 skos:exactMatch ncbigene:139716 semapv:UnspecifiedMatching +OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch MONDO:0010336 semapv:UnspecifiedMatching +OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch Orphanet:2755 semapv:UnspecifiedMatching +OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch UMLS:C0152096 semapv:UnspecifiedMatching +OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch UMLS:C0796101 semapv:UnspecifiedMatching +OMIM:300485 BCOR skos:exactMatch hgnc.symbol:20893 semapv:UnspecifiedMatching +OMIM:300485 BCOR skos:exactMatch hgnc.symbol:BCOR semapv:UnspecifiedMatching +OMIM:300485 BCOR skos:exactMatch ncbigene:54880 semapv:UnspecifiedMatching +OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia skos:exactMatch MONDO:0010337 semapv:UnspecifiedMatching +OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:24027 semapv:UnspecifiedMatching +OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:ACTRT1 semapv:UnspecifiedMatching +OMIM:300487 ACTRT1 skos:exactMatch ncbigene:139741 semapv:UnspecifiedMatching +OMIM:300488 menopause, natural, age at, quantitative trait locus 1 skos:exactMatch MONDO:0044261 semapv:UnspecifiedMatching +OMIM:300489 neuronopathy, distal hereditary motor, X-linked skos:exactMatch MONDO:0010338 semapv:UnspecifiedMatching +OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:10820 semapv:UnspecifiedMatching +OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:SH2D1A semapv:UnspecifiedMatching +OMIM:300490 SH2D1A skos:exactMatch ncbigene:4068 semapv:UnspecifiedMatching +OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch MONDO:0010339 semapv:UnspecifiedMatching +OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:13749 semapv:UnspecifiedMatching +OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:FAM3A semapv:UnspecifiedMatching +OMIM:300492 FAM3A skos:exactMatch ncbigene:60343 semapv:UnspecifiedMatching +OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:14328 semapv:UnspecifiedMatching +OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:SPANXA2 semapv:UnspecifiedMatching +OMIM:300493 SPANXA2 skos:exactMatch ncbigene:728712 semapv:UnspecifiedMatching +OMIM:300495 autism, susceptibility to, X-linked 2 skos:exactMatch MONDO:0010341 semapv:UnspecifiedMatching +OMIM:300496 autism, susceptibility to, X-linked 3 skos:exactMatch MONDO:0010342 semapv:UnspecifiedMatching +OMIM:300498 intellectual developmental disorder, X-linked 45 skos:exactMatch MONDO:0010344 semapv:UnspecifiedMatching +OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:13254 semapv:UnspecifiedMatching +OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:FTSJ1 semapv:UnspecifiedMatching +OMIM:300499 FTSJ1 skos:exactMatch ncbigene:24140 semapv:UnspecifiedMatching +OMIM:300500 albinism, ocular, iia 1 skos:exactMatch MONDO:0021019 semapv:UnspecifiedMatching +OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:8806 semapv:UnspecifiedMatching +OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:PDHA1 semapv:UnspecifiedMatching +OMIM:300502 PDHA1 skos:exactMatch ncbigene:5160 semapv:UnspecifiedMatching +OMIM:300504 skos:exactMatch MONDO:0010346 semapv:UnspecifiedMatching +OMIM:300505 intellectual developmental disorder, X-linked 84 skos:exactMatch MONDO:0010347 semapv:UnspecifiedMatching +OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:3051 semapv:UnspecifiedMatching +OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:TSC22D3 semapv:UnspecifiedMatching +OMIM:300506 TSC22D3 skos:exactMatch ncbigene:1831 semapv:UnspecifiedMatching +OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:27252 semapv:UnspecifiedMatching +OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:H2BW1 semapv:UnspecifiedMatching +OMIM:300507 H2BFWT skos:exactMatch ncbigene:158983 semapv:UnspecifiedMatching +OMIM:300508 UTP14A skos:exactMatch UMLS:C1540168 semapv:UnspecifiedMatching +OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:10665 semapv:UnspecifiedMatching +OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:UTP14A semapv:UnspecifiedMatching +OMIM:300508 UTP14A skos:exactMatch ncbigene:10813 semapv:UnspecifiedMatching +OMIM:300509 dyslexia, susceptibility to, 9 skos:exactMatch MONDO:0010348 semapv:UnspecifiedMatching +OMIM:300510 ovarian dysgenesis 2 skos:exactMatch MONDO:0010349 semapv:UnspecifiedMatching +OMIM:300510 ovarian dysgenesis 2 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching +OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845294 semapv:UnspecifiedMatching +OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845295 semapv:UnspecifiedMatching +OMIM:300511 premature ovarian failure 2a skos:exactMatch MONDO:0010350 semapv:UnspecifiedMatching +OMIM:300512 WDR13 skos:exactMatch hgnc.symbol:14352 semapv:UnspecifiedMatching +OMIM:300512 WDR13 skos:exactMatch hgnc.symbol:WDR13 semapv:UnspecifiedMatching +OMIM:300512 WDR13 skos:exactMatch ncbigene:64743 semapv:UnspecifiedMatching +OMIM:300513 GPR119 skos:exactMatch hgnc.symbol:19060 semapv:UnspecifiedMatching +OMIM:300513 GPR119 skos:exactMatch hgnc.symbol:GPR119 semapv:UnspecifiedMatching +OMIM:300513 GPR119 skos:exactMatch ncbigene:139760 semapv:UnspecifiedMatching +OMIM:300514 fanconi anemia, complementation group B skos:exactMatch MONDO:0010351 semapv:UnspecifiedMatching +OMIM:300515 FANCB skos:exactMatch hgnc.symbol:3583 semapv:UnspecifiedMatching +OMIM:300515 FANCB skos:exactMatch hgnc.symbol:FANCB semapv:UnspecifiedMatching +OMIM:300515 FANCB skos:exactMatch ncbigene:2187 semapv:UnspecifiedMatching +OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:13554 semapv:UnspecifiedMatching +OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:ATP11C semapv:UnspecifiedMatching +OMIM:300516 ATP11C skos:exactMatch ncbigene:286410 semapv:UnspecifiedMatching +OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:33147 semapv:UnspecifiedMatching +OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:SPIN2B semapv:UnspecifiedMatching +OMIM:300517 SPIN2B skos:exactMatch ncbigene:474343 semapv:UnspecifiedMatching +OMIM:300518 intellectual developmental disorder, X-linked 82 skos:exactMatch MONDO:0010352 semapv:UnspecifiedMatching +OMIM:300519 martin-probst syndrome skos:exactMatch MONDO:0010353 semapv:UnspecifiedMatching +OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:2041 semapv:UnspecifiedMatching +OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:CLDN2 semapv:UnspecifiedMatching +OMIM:300520 CLDN2 skos:exactMatch ncbigene:9075 semapv:UnspecifiedMatching +OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:13339 semapv:UnspecifiedMatching +OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:KIF4A semapv:UnspecifiedMatching +OMIM:300521 KIF4A skos:exactMatch ncbigene:24137 semapv:UnspecifiedMatching +OMIM:300522 IQSEC2 skos:exactMatch hgnc.symbol:29059 semapv:UnspecifiedMatching +OMIM:300522 IQSEC2 skos:exactMatch hgnc.symbol:IQSEC2 semapv:UnspecifiedMatching +OMIM:300522 IQSEC2 skos:exactMatch ncbigene:23096 semapv:UnspecifiedMatching +OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch MONDO:0010354 semapv:UnspecifiedMatching +OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:280270 semapv:UnspecifiedMatching +OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:59 semapv:UnspecifiedMatching +OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch UMLS:C0795889 semapv:UnspecifiedMatching +OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:29433 semapv:UnspecifiedMatching +OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:NEXMIF semapv:UnspecifiedMatching +OMIM:300524 NEXMIF skos:exactMatch ncbigene:340533 semapv:UnspecifiedMatching +OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:15524 semapv:UnspecifiedMatching +OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:P2RY8 semapv:UnspecifiedMatching +OMIM:300525 P2RY8 skos:exactMatch ncbigene:286530 semapv:UnspecifiedMatching +OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:28912 semapv:UnspecifiedMatching +OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:WDR45 semapv:UnspecifiedMatching +OMIM:300526 WDR45 skos:exactMatch ncbigene:11152 semapv:UnspecifiedMatching +OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:17621 semapv:UnspecifiedMatching +OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:NUDT10 semapv:UnspecifiedMatching +OMIM:300527 NUDT10 skos:exactMatch ncbigene:170685 semapv:UnspecifiedMatching +OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:18011 semapv:UnspecifiedMatching +OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:NUDT11 semapv:UnspecifiedMatching +OMIM:300528 NUDT11 skos:exactMatch ncbigene:55190 semapv:UnspecifiedMatching +OMIM:300529 P2RY10 skos:exactMatch hgnc.symbol:19906 semapv:UnspecifiedMatching +OMIM:300529 P2RY10 skos:exactMatch hgnc.symbol:P2RY10 semapv:UnspecifiedMatching +OMIM:300529 P2RY10 skos:exactMatch ncbigene:27334 semapv:UnspecifiedMatching +OMIM:300531 SPRY3 skos:exactMatch hgnc.symbol:11271 semapv:UnspecifiedMatching +OMIM:300531 SPRY3 skos:exactMatch hgnc.symbol:SPRY3 semapv:UnspecifiedMatching +OMIM:300531 SPRY3 skos:exactMatch ncbigene:10251 semapv:UnspecifiedMatching +OMIM:300532 VCX2 skos:exactMatch hgnc.symbol:18158 semapv:UnspecifiedMatching +OMIM:300532 VCX2 skos:exactMatch hgnc.symbol:VCX2 semapv:UnspecifiedMatching +OMIM:300532 VCX2 skos:exactMatch ncbigene:51480 semapv:UnspecifiedMatching +OMIM:300533 VCX3A skos:exactMatch hgnc.symbol:18159 semapv:UnspecifiedMatching +OMIM:300533 VCX3A skos:exactMatch hgnc.symbol:VCX3A semapv:UnspecifiedMatching +OMIM:300533 VCX3A skos:exactMatch ncbigene:51481 semapv:UnspecifiedMatching +OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch MONDO:0010355 semapv:UnspecifiedMatching +OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch Orphanet:85279 semapv:UnspecifiedMatching +OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch UMLS:C1845243 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch UMLS:C1417931 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch hgnc.symbol:8108 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch hgnc.symbol:OCRL semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch ncbigene:4952 semapv:UnspecifiedMatching +OMIM:300537 skos:exactMatch MONDO:0019348 semapv:UnspecifiedMatching +OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:897 semapv:UnspecifiedMatching +OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:AVPR2 semapv:UnspecifiedMatching +OMIM:300538 AVPR2 skos:exactMatch ncbigene:554 semapv:UnspecifiedMatching +OMIM:300539 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch MONDO:0010356 semapv:UnspecifiedMatching +OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:32979 semapv:UnspecifiedMatching +OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:HAUS7 semapv:UnspecifiedMatching +OMIM:300540 HAUS7 skos:exactMatch ncbigene:55559 semapv:UnspecifiedMatching +OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:19652 semapv:UnspecifiedMatching +OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:SSX6P semapv:UnspecifiedMatching +OMIM:300541 SSX6 skos:exactMatch ncbigene:280657 semapv:UnspecifiedMatching +OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:19653 semapv:UnspecifiedMatching +OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:SSX7 semapv:UnspecifiedMatching +OMIM:300542 SSX7 skos:exactMatch ncbigene:280658 semapv:UnspecifiedMatching +OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:19654 semapv:UnspecifiedMatching +OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:SSX8P semapv:UnspecifiedMatching +OMIM:300543 SSX8 skos:exactMatch ncbigene:280659 semapv:UnspecifiedMatching +OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:19655 semapv:UnspecifiedMatching +OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:SSX9P semapv:UnspecifiedMatching +OMIM:300544 SSX9 skos:exactMatch ncbigene:280660 semapv:UnspecifiedMatching +OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:19133 semapv:UnspecifiedMatching +OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:HS6ST2 semapv:UnspecifiedMatching +OMIM:300545 HS6ST2 skos:exactMatch ncbigene:90161 semapv:UnspecifiedMatching +OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:3663 semapv:UnspecifiedMatching +OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:FGD1 semapv:UnspecifiedMatching +OMIM:300546 FGD1 skos:exactMatch ncbigene:2245 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch UMLS:C1845191 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch hgnc.symbol:18174 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch hgnc.symbol:STK26 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch ncbigene:51765 semapv:UnspecifiedMatching +OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:24092 semapv:UnspecifiedMatching +OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:MAGEH1 semapv:UnspecifiedMatching +OMIM:300548 MAGEH1 skos:exactMatch ncbigene:28986 semapv:UnspecifiedMatching +OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:19340 semapv:UnspecifiedMatching +OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:MAGEA2B semapv:UnspecifiedMatching +OMIM:300549 MAGEA2B skos:exactMatch ncbigene:266740 semapv:UnspecifiedMatching +OMIM:300550 PHEX skos:exactMatch hgnc.symbol:8918 semapv:UnspecifiedMatching +OMIM:300550 PHEX skos:exactMatch hgnc.symbol:PHEX semapv:UnspecifiedMatching +OMIM:300550 PHEX skos:exactMatch ncbigene:5251 semapv:UnspecifiedMatching +OMIM:300551 skos:exactMatch MONDO:0010357 semapv:UnspecifiedMatching +OMIM:300552 MID1 skos:exactMatch hgnc.symbol:7095 semapv:UnspecifiedMatching +OMIM:300552 MID1 skos:exactMatch hgnc.symbol:MID1 semapv:UnspecifiedMatching +OMIM:300552 MID1 skos:exactMatch ncbigene:4281 semapv:UnspecifiedMatching +OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:17342 semapv:UnspecifiedMatching +OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:BRWD3 semapv:UnspecifiedMatching +OMIM:300553 BRWD3 skos:exactMatch ncbigene:254065 semapv:UnspecifiedMatching +OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch MONDO:0010358 semapv:UnspecifiedMatching +OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching +OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:93622 semapv:UnspecifiedMatching +OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch UMLS:C1845168 semapv:UnspecifiedMatching +OMIM:300555 dent disease 2 skos:exactMatch MONDO:0010359 semapv:UnspecifiedMatching +OMIM:300555 dent disease 2 skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching +OMIM:300555 dent disease 2 skos:exactMatch Orphanet:93623 semapv:UnspecifiedMatching +OMIM:300555 dent disease 2 skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1425435 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C3806722 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:18305 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:ATP6AP2 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch ncbigene:10159 semapv:UnspecifiedMatching +OMIM:300557 parkinson disease 12 skos:exactMatch MONDO:0010360 semapv:UnspecifiedMatching +OMIM:300558 intellectual developmental disorder, X-linked 30 skos:exactMatch MONDO:0010361 semapv:UnspecifiedMatching +OMIM:300559 glycogen storage disease ixd skos:exactMatch MONDO:0010362 semapv:UnspecifiedMatching +OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:20672 semapv:UnspecifiedMatching +OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:PHF8 semapv:UnspecifiedMatching +OMIM:300560 PHF8 skos:exactMatch ncbigene:23133 semapv:UnspecifiedMatching +OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:13449 semapv:UnspecifiedMatching +OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:SLITRK2 semapv:UnspecifiedMatching +OMIM:300561 SLITRK2 skos:exactMatch ncbigene:84631 semapv:UnspecifiedMatching +OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:23502 semapv:UnspecifiedMatching +OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:SLITRK4 semapv:UnspecifiedMatching +OMIM:300562 SLITRK4 skos:exactMatch ncbigene:139065 semapv:UnspecifiedMatching +OMIM:300564 TSPYL2 skos:exactMatch hgnc.symbol:24358 semapv:UnspecifiedMatching +OMIM:300564 TSPYL2 skos:exactMatch hgnc.symbol:TSPYL2 semapv:UnspecifiedMatching +OMIM:300564 TSPYL2 skos:exactMatch ncbigene:64061 semapv:UnspecifiedMatching +OMIM:300566 LHFPL1 skos:exactMatch hgnc.symbol:6587 semapv:UnspecifiedMatching +OMIM:300566 LHFPL1 skos:exactMatch hgnc.symbol:LHFPL1 semapv:UnspecifiedMatching +OMIM:300566 LHFPL1 skos:exactMatch ncbigene:340596 semapv:UnspecifiedMatching +OMIM:300567 PGAM4 skos:exactMatch hgnc.symbol:21731 semapv:UnspecifiedMatching +OMIM:300567 PGAM4 skos:exactMatch hgnc.symbol:PGAM4 semapv:UnspecifiedMatching +OMIM:300567 PGAM4 skos:exactMatch ncbigene:441531 semapv:UnspecifiedMatching +OMIM:300568 MIR221 skos:exactMatch hgnc.symbol:31601 semapv:UnspecifiedMatching +OMIM:300568 MIR221 skos:exactMatch hgnc.symbol:MIR221 semapv:UnspecifiedMatching +OMIM:300568 MIR221 skos:exactMatch ncbigene:407006 semapv:UnspecifiedMatching +OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:31602 semapv:UnspecifiedMatching +OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:MIR222 semapv:UnspecifiedMatching +OMIM:300569 MIR222 skos:exactMatch ncbigene:407007 semapv:UnspecifiedMatching +OMIM:300570 YY2 skos:exactMatch hgnc.symbol:31684 semapv:UnspecifiedMatching +OMIM:300570 YY2 skos:exactMatch hgnc.symbol:YY2 semapv:UnspecifiedMatching +OMIM:300570 YY2 skos:exactMatch ncbigene:404281 semapv:UnspecifiedMatching +OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:4516 semapv:UnspecifiedMatching +OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:ADGRG2 semapv:UnspecifiedMatching +OMIM:300572 ADGRG2 skos:exactMatch ncbigene:10149 semapv:UnspecifiedMatching +OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:17625 semapv:UnspecifiedMatching +OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:ZNF674 semapv:UnspecifiedMatching +OMIM:300573 ZNF674 skos:exactMatch ncbigene:641339 semapv:UnspecifiedMatching +OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:4540 semapv:UnspecifiedMatching +OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:CXCR3 semapv:UnspecifiedMatching +OMIM:300574 CXCR3 skos:exactMatch ncbigene:2833 semapv:UnspecifiedMatching +OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:25117 semapv:UnspecifiedMatching +OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:RIPPLY1 semapv:UnspecifiedMatching +OMIM:300575 RIPPLY1 skos:exactMatch ncbigene:92129 semapv:UnspecifiedMatching +OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:20342 semapv:UnspecifiedMatching +OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:ZDHHC15 semapv:UnspecifiedMatching +OMIM:300576 ZDHHC15 skos:exactMatch ncbigene:158866 semapv:UnspecifiedMatching +OMIM:300577 intellectual developmental disorder, X-linked 91 skos:exactMatch MONDO:0010363 semapv:UnspecifiedMatching +OMIM:300578 chromosome xp11.3 deletion syndrome skos:exactMatch MONDO:0010364 semapv:UnspecifiedMatching +OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:29215 semapv:UnspecifiedMatching +OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:SHROOM4 semapv:UnspecifiedMatching +OMIM:300579 SHROOM4 skos:exactMatch ncbigene:57477 semapv:UnspecifiedMatching +OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch MONDO:0010365 semapv:UnspecifiedMatching +OMIM:300581 fg syndrome 5 skos:exactMatch MONDO:0010366 semapv:UnspecifiedMatching +OMIM:300582 short stature, idiopathic, X-linked skos:exactMatch MONDO:0010367 semapv:UnspecifiedMatching +OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:20985 semapv:UnspecifiedMatching +OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:VGLL1 semapv:UnspecifiedMatching +OMIM:300583 VGLL1 skos:exactMatch ncbigene:51442 semapv:UnspecifiedMatching +OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:26007 semapv:UnspecifiedMatching +OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:KRBOX4 semapv:UnspecifiedMatching +OMIM:300585 ZNF673 skos:exactMatch ncbigene:55634 semapv:UnspecifiedMatching +OMIM:300586 ARSH skos:exactMatch hgnc.symbol:32488 semapv:UnspecifiedMatching +OMIM:300586 ARSH skos:exactMatch hgnc.symbol:ARSH semapv:UnspecifiedMatching +OMIM:300586 ARSH skos:exactMatch ncbigene:347527 semapv:UnspecifiedMatching +OMIM:300587 MCTS1 skos:exactMatch hgnc.symbol:23357 semapv:UnspecifiedMatching +OMIM:300587 MCTS1 skos:exactMatch hgnc.symbol:MCTS1 semapv:UnspecifiedMatching +OMIM:300587 MCTS1 skos:exactMatch ncbigene:28985 semapv:UnspecifiedMatching +OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:8117 semapv:UnspecifiedMatching +OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:TENM1 semapv:UnspecifiedMatching +OMIM:300588 TENM1 skos:exactMatch ncbigene:10178 semapv:UnspecifiedMatching +OMIM:300589 nystagmus 5, congenital, X-linked skos:exactMatch MONDO:0010369 semapv:UnspecifiedMatching +OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch MONDO:0010370 semapv:UnspecifiedMatching +OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching +OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:27397 semapv:UnspecifiedMatching +OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:CT47A11 semapv:UnspecifiedMatching +OMIM:300592 CT47A11 skos:exactMatch ncbigene:255313 semapv:UnspecifiedMatching +OMIM:300593 SPACA5 skos:exactMatch hgnc.symbol:31353 semapv:UnspecifiedMatching +OMIM:300593 SPACA5 skos:exactMatch hgnc.symbol:SPACA5 semapv:UnspecifiedMatching +OMIM:300593 SPACA5 skos:exactMatch ncbigene:389852 semapv:UnspecifiedMatching +OMIM:300594 GAGE1 skos:exactMatch hgnc.symbol:4098 semapv:UnspecifiedMatching +OMIM:300594 GAGE1 skos:exactMatch hgnc.symbol:GAGE1 semapv:UnspecifiedMatching +OMIM:300594 GAGE1 skos:exactMatch ncbigene:2543 semapv:UnspecifiedMatching +OMIM:300595 GAGE2C skos:exactMatch hgnc.symbol:31958 semapv:UnspecifiedMatching +OMIM:300595 GAGE2C skos:exactMatch hgnc.symbol:GAGE2C semapv:UnspecifiedMatching +OMIM:300595 GAGE2C skos:exactMatch ncbigene:2574 semapv:UnspecifiedMatching +OMIM:300597 GAGE4 skos:exactMatch hgnc.symbol:4101 semapv:UnspecifiedMatching +OMIM:300597 GAGE4 skos:exactMatch hgnc.symbol:GAGE4 semapv:UnspecifiedMatching +OMIM:300597 GAGE4 skos:exactMatch ncbigene:2576 semapv:UnspecifiedMatching +OMIM:300598 GAGE5 skos:exactMatch hgnc.symbol:4102 semapv:UnspecifiedMatching +OMIM:300598 GAGE5 skos:exactMatch hgnc.symbol:GAGE5 semapv:UnspecifiedMatching +OMIM:300598 GAGE5 skos:exactMatch ncbigene:2577 semapv:UnspecifiedMatching +OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:4103 semapv:UnspecifiedMatching +OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:GAGE6 semapv:UnspecifiedMatching +OMIM:300599 GAGE6 skos:exactMatch ncbigene:2578 semapv:UnspecifiedMatching +OMIM:300600 aland island eye disease skos:exactMatch MONDO:0010371 semapv:UnspecifiedMatching +OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:4104 semapv:UnspecifiedMatching +OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:GAGE7 semapv:UnspecifiedMatching +OMIM:300601 GAGE7 skos:exactMatch ncbigene:2579 semapv:UnspecifiedMatching +OMIM:300603 POF1B skos:exactMatch hgnc.symbol:13711 semapv:UnspecifiedMatching +OMIM:300603 POF1B skos:exactMatch hgnc.symbol:POF1B semapv:UnspecifiedMatching +OMIM:300603 POF1B skos:exactMatch ncbigene:79983 semapv:UnspecifiedMatching +OMIM:300604 premature ovarian failure 2b skos:exactMatch MONDO:0010373 semapv:UnspecifiedMatching +OMIM:300605 retinitis pigmentosa 34 skos:exactMatch MONDO:0010374 semapv:UnspecifiedMatching +OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch MONDO:0010375 semapv:UnspecifiedMatching +OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching +OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching +OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch UMLS:C1424566 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:16814 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:DACH2 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch ncbigene:117154 semapv:UnspecifiedMatching +OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:7370 semapv:UnspecifiedMatching +OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:MSL3 semapv:UnspecifiedMatching +OMIM:300609 MSL3 skos:exactMatch ncbigene:10943 semapv:UnspecifiedMatching +OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:5042 semapv:UnspecifiedMatching +OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:HNRNPH2 semapv:UnspecifiedMatching +OMIM:300610 HNRNPH2 skos:exactMatch ncbigene:3188 semapv:UnspecifiedMatching +OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:24338 semapv:UnspecifiedMatching +OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:C1GALT1C1 semapv:UnspecifiedMatching +OMIM:300611 C1GALT1C1 skos:exactMatch ncbigene:29071 semapv:UnspecifiedMatching +OMIM:300613 myopia 13, X-linked skos:exactMatch MONDO:0010377 semapv:UnspecifiedMatching +OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch MONDO:0010378 semapv:UnspecifiedMatching +OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch Orphanet:139583 semapv:UnspecifiedMatching +OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching +OMIM:300615 brunner syndrome skos:exactMatch MONDO:0010379 semapv:UnspecifiedMatching +OMIM:300616 LUZP4 skos:exactMatch hgnc.symbol:24971 semapv:UnspecifiedMatching +OMIM:300616 LUZP4 skos:exactMatch hgnc.symbol:LUZP4 semapv:UnspecifiedMatching +OMIM:300616 LUZP4 skos:exactMatch ncbigene:51213 semapv:UnspecifiedMatching +OMIM:300617 BRCC3 skos:exactMatch UMLS:C1826632 semapv:UnspecifiedMatching +OMIM:300617 BRCC3 skos:exactMatch hgnc.symbol:24185 semapv:UnspecifiedMatching +OMIM:300617 BRCC3 skos:exactMatch hgnc.symbol:BRCC3 semapv:UnspecifiedMatching +OMIM:300617 BRCC3 skos:exactMatch ncbigene:79184 semapv:UnspecifiedMatching +OMIM:300618 PHF16 skos:exactMatch hgnc.symbol:22982 semapv:UnspecifiedMatching +OMIM:300618 PHF16 skos:exactMatch hgnc.symbol:JADE3 semapv:UnspecifiedMatching +OMIM:300618 PHF16 skos:exactMatch ncbigene:9767 semapv:UnspecifiedMatching +OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development skos:exactMatch MONDO:0010380 semapv:UnspecifiedMatching +OMIM:300620 VSIG1 skos:exactMatch hgnc.symbol:28675 semapv:UnspecifiedMatching +OMIM:300620 VSIG1 skos:exactMatch hgnc.symbol:VSIG1 semapv:UnspecifiedMatching +OMIM:300620 VSIG1 skos:exactMatch ncbigene:340547 semapv:UnspecifiedMatching +OMIM:300621 SPIN2A skos:exactMatch hgnc.symbol:20694 semapv:UnspecifiedMatching +OMIM:300621 SPIN2A skos:exactMatch hgnc.symbol:SPIN2A semapv:UnspecifiedMatching +OMIM:300621 SPIN2A skos:exactMatch ncbigene:54466 semapv:UnspecifiedMatching +OMIM:300622 tn polyagglutination syndrome skos:exactMatch MONDO:0010381 semapv:UnspecifiedMatching +OMIM:300623 fragile 10 tremor/ataxia syndrome skos:exactMatch MONDO:0010382 semapv:UnspecifiedMatching +OMIM:300624 fragile 10 syndrome skos:exactMatch MONDO:0010383 semapv:UnspecifiedMatching +OMIM:300625 CT83 skos:exactMatch hgnc.symbol:33494 semapv:UnspecifiedMatching +OMIM:300625 CT83 skos:exactMatch hgnc.symbol:CT83 semapv:UnspecifiedMatching +OMIM:300625 CT83 skos:exactMatch ncbigene:203413 semapv:UnspecifiedMatching +OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:17186 semapv:UnspecifiedMatching +OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:ASB11 semapv:UnspecifiedMatching +OMIM:300626 ASB11 skos:exactMatch ncbigene:140456 semapv:UnspecifiedMatching +OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:21039 semapv:UnspecifiedMatching +OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:ZNF449 semapv:UnspecifiedMatching +OMIM:300627 ZNF449 skos:exactMatch ncbigene:203523 semapv:UnspecifiedMatching +OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:8079 semapv:UnspecifiedMatching +OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:FRMD7 semapv:UnspecifiedMatching +OMIM:300628 FRMD7 skos:exactMatch ncbigene:90167 semapv:UnspecifiedMatching +OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:560 semapv:UnspecifiedMatching +OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:AP1S2 semapv:UnspecifiedMatching +OMIM:300629 AP1S2 skos:exactMatch ncbigene:8905 semapv:UnspecifiedMatching +OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:29437 semapv:UnspecifiedMatching +OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:CLTRN semapv:UnspecifiedMatching +OMIM:300631 CLTRN skos:exactMatch ncbigene:57393 semapv:UnspecifiedMatching +OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:28034 semapv:UnspecifiedMatching +OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:PDZD11 semapv:UnspecifiedMatching +OMIM:300632 PDZD11 skos:exactMatch ncbigene:51248 semapv:UnspecifiedMatching +OMIM:300633 hypospadias 1, X-linked skos:exactMatch MONDO:0010384 semapv:UnspecifiedMatching +OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:21167 semapv:UnspecifiedMatching +OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:PDZD4 semapv:UnspecifiedMatching +OMIM:300634 PDZD4 skos:exactMatch ncbigene:57595 semapv:UnspecifiedMatching +OMIM:300635 lymphoproliferative syndrome, x-linked, 2 skos:exactMatch MONDO:0010385 semapv:UnspecifiedMatching +OMIM:300636 immunodeficiency 33 skos:exactMatch MONDO:0010386 semapv:UnspecifiedMatching +OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319605 semapv:UnspecifiedMatching +OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319612 semapv:UnspecifiedMatching +OMIM:300636 immunodeficiency 33 skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching +OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:4105 semapv:UnspecifiedMatching +OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:GAGE12I semapv:UnspecifiedMatching +OMIM:300637 GAGE12I skos:exactMatch ncbigene:26748 semapv:UnspecifiedMatching +OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:4106 semapv:UnspecifiedMatching +OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:GAGE8 semapv:UnspecifiedMatching +OMIM:300638 GAGE8 skos:exactMatch ncbigene:100101629 semapv:UnspecifiedMatching +OMIM:300640 skos:exactMatch MONDO:0010387 semapv:UnspecifiedMatching +OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:30557 semapv:UnspecifiedMatching +OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:SLC25A43 semapv:UnspecifiedMatching +OMIM:300641 SLC25A43 skos:exactMatch ncbigene:203427 semapv:UnspecifiedMatching +OMIM:300642 SRPX2 skos:exactMatch hgnc.symbol:30668 semapv:UnspecifiedMatching +OMIM:300642 SRPX2 skos:exactMatch hgnc.symbol:SRPX2 semapv:UnspecifiedMatching +OMIM:300642 SRPX2 skos:exactMatch ncbigene:27286 semapv:UnspecifiedMatching +OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked skos:exactMatch MONDO:0010388 semapv:UnspecifiedMatching +OMIM:300644 GLA skos:exactMatch hgnc.symbol:4296 semapv:UnspecifiedMatching +OMIM:300644 GLA skos:exactMatch hgnc.symbol:GLA semapv:UnspecifiedMatching +OMIM:300644 GLA skos:exactMatch ncbigene:2717 semapv:UnspecifiedMatching +OMIM:300645 immunodeficiency 34 skos:exactMatch MONDO:0010389 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C1425540 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:18475 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:ZDHHC9 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch ncbigene:51114 semapv:UnspecifiedMatching +OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:26837 semapv:UnspecifiedMatching +OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:AMER1 semapv:UnspecifiedMatching +OMIM:300647 AMER1 skos:exactMatch ncbigene:139285 semapv:UnspecifiedMatching +OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:33267 semapv:UnspecifiedMatching +OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:CT45A1 semapv:UnspecifiedMatching +OMIM:300648 CT45A1 skos:exactMatch ncbigene:541466 semapv:UnspecifiedMatching +OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:18070 semapv:UnspecifiedMatching +OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:SLC38A5 semapv:UnspecifiedMatching +OMIM:300649 SLC38A5 skos:exactMatch ncbigene:92745 semapv:UnspecifiedMatching +OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch MONDO:0010390 semapv:UnspecifiedMatching +OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching +OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching +OMIM:300651 PORCN skos:exactMatch hgnc.symbol:17652 semapv:UnspecifiedMatching +OMIM:300651 PORCN skos:exactMatch hgnc.symbol:PORCN semapv:UnspecifiedMatching +OMIM:300651 PORCN skos:exactMatch ncbigene:64840 semapv:UnspecifiedMatching +OMIM:300652 angioma serpiginosum, X-linked skos:exactMatch MONDO:0010391 semapv:UnspecifiedMatching +OMIM:300653 phosphoglycerate kinase 1 deficiency skos:exactMatch MONDO:0010392 semapv:UnspecifiedMatching +OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:26440 semapv:UnspecifiedMatching +OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:FAAH2 semapv:UnspecifiedMatching +OMIM:300654 FAAH2 skos:exactMatch ncbigene:158584 semapv:UnspecifiedMatching +OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:22931 semapv:UnspecifiedMatching +OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:KLHL13 semapv:UnspecifiedMatching +OMIM:300655 KLHL13 skos:exactMatch ncbigene:90293 semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch UMLS:C1823601 semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch hgnc.symbol:28334 semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch hgnc.symbol:UPRT semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch ncbigene:139596 semapv:UnspecifiedMatching +OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:24198 semapv:UnspecifiedMatching +OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:CTAG1A semapv:UnspecifiedMatching +OMIM:300657 CTAG1A skos:exactMatch ncbigene:246100 semapv:UnspecifiedMatching +OMIM:300658 NDP skos:exactMatch hgnc.symbol:7678 semapv:UnspecifiedMatching +OMIM:300658 NDP skos:exactMatch hgnc.symbol:NDP semapv:UnspecifiedMatching +OMIM:300658 NDP skos:exactMatch ncbigene:4693 semapv:UnspecifiedMatching +OMIM:300659 intellectual developmental disorder, X-linked 93 skos:exactMatch MONDO:0010393 semapv:UnspecifiedMatching +OMIM:300660 skos:exactMatch MONDO:0010394 semapv:UnspecifiedMatching +OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch MONDO:0010395 semapv:UnspecifiedMatching +OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:32599 semapv:UnspecifiedMatching +OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:SNORA11 semapv:UnspecifiedMatching +OMIM:300662 SNORA11 skos:exactMatch ncbigene:677799 semapv:UnspecifiedMatching +OMIM:300663 ATG4A skos:exactMatch UMLS:C1825494 semapv:UnspecifiedMatching +OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:16489 semapv:UnspecifiedMatching +OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:ATG4A semapv:UnspecifiedMatching +OMIM:300663 ATG4A skos:exactMatch ncbigene:115201 semapv:UnspecifiedMatching +OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:33174 semapv:UnspecifiedMatching +OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:SPANXN1 semapv:UnspecifiedMatching +OMIM:300664 SPANXN1 skos:exactMatch ncbigene:494118 semapv:UnspecifiedMatching +OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:33175 semapv:UnspecifiedMatching +OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:SPANXN2 semapv:UnspecifiedMatching +OMIM:300665 SPANXN2 skos:exactMatch ncbigene:494119 semapv:UnspecifiedMatching +OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:33176 semapv:UnspecifiedMatching +OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:SPANXN3 semapv:UnspecifiedMatching +OMIM:300666 SPANXN3 skos:exactMatch ncbigene:139067 semapv:UnspecifiedMatching +OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:33177 semapv:UnspecifiedMatching +OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:SPANXN4 semapv:UnspecifiedMatching +OMIM:300667 SPANXN4 skos:exactMatch ncbigene:441525 semapv:UnspecifiedMatching +OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:33178 semapv:UnspecifiedMatching +OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:SPANXN5 semapv:UnspecifiedMatching +OMIM:300668 SPANXN5 skos:exactMatch ncbigene:494197 semapv:UnspecifiedMatching +OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:14329 semapv:UnspecifiedMatching +OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:SPANXB1 semapv:UnspecifiedMatching +OMIM:300669 SPANXB1 skos:exactMatch ncbigene:728695 semapv:UnspecifiedMatching +OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:14332 semapv:UnspecifiedMatching +OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:SPANXD semapv:UnspecifiedMatching +OMIM:300670 SPANXD skos:exactMatch ncbigene:64648 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch MONDO:0010396 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching +OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations skos:exactMatch MONDO:0010397 semapv:UnspecifiedMatching +OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:25235 semapv:UnspecifiedMatching +OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:MOSPD1 semapv:UnspecifiedMatching +OMIM:300674 MOSPD1 skos:exactMatch ncbigene:56180 semapv:UnspecifiedMatching +OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:18742 semapv:UnspecifiedMatching +OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:PNMA3 semapv:UnspecifiedMatching +OMIM:300675 PNMA3 skos:exactMatch ncbigene:29944 semapv:UnspecifiedMatching +OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 skos:exactMatch MONDO:0010398 semapv:UnspecifiedMatching +OMIM:300677 TXLNG skos:exactMatch UMLS:C1425616 semapv:UnspecifiedMatching +OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:18578 semapv:UnspecifiedMatching +OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:TXLNG semapv:UnspecifiedMatching +OMIM:300677 TXLNG skos:exactMatch ncbigene:55787 semapv:UnspecifiedMatching +OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:20476 semapv:UnspecifiedMatching +OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:DUSP21 semapv:UnspecifiedMatching +OMIM:300678 DUSP21 skos:exactMatch ncbigene:63904 semapv:UnspecifiedMatching +OMIM:300679 chromosome xp21 deletion syndrome skos:exactMatch MONDO:0010399 semapv:UnspecifiedMatching +OMIM:300680 PNCK skos:exactMatch hgnc.symbol:13415 semapv:UnspecifiedMatching +OMIM:300680 PNCK skos:exactMatch hgnc.symbol:PNCK semapv:UnspecifiedMatching +OMIM:300680 PNCK skos:exactMatch ncbigene:139728 semapv:UnspecifiedMatching +OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:23483 semapv:UnspecifiedMatching +OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:DOCK11 semapv:UnspecifiedMatching +OMIM:300681 DOCK11 skos:exactMatch ncbigene:139818 semapv:UnspecifiedMatching +OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:31881 semapv:UnspecifiedMatching +OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:MIR424 semapv:UnspecifiedMatching +OMIM:300682 MIR424 skos:exactMatch ncbigene:494336 semapv:UnspecifiedMatching +OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:15848 semapv:UnspecifiedMatching +OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:SEPTIN6 semapv:UnspecifiedMatching +OMIM:300683 SEPT6 skos:exactMatch ncbigene:23157 semapv:UnspecifiedMatching +OMIM:300684 XKRX skos:exactMatch hgnc.symbol:29845 semapv:UnspecifiedMatching +OMIM:300684 XKRX skos:exactMatch hgnc.symbol:XKRX semapv:UnspecifiedMatching +OMIM:300684 XKRX skos:exactMatch ncbigene:402415 semapv:UnspecifiedMatching +OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:30798 semapv:UnspecifiedMatching +OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:PRRG3 semapv:UnspecifiedMatching +OMIM:300685 PRRG3 skos:exactMatch ncbigene:79057 semapv:UnspecifiedMatching +OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:26069 semapv:UnspecifiedMatching +OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:MIR448 semapv:UnspecifiedMatching +OMIM:300686 MIR448 skos:exactMatch ncbigene:554212 semapv:UnspecifiedMatching +OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:20794 semapv:UnspecifiedMatching +OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:ERCC6L semapv:UnspecifiedMatching +OMIM:300687 ERCC6L skos:exactMatch ncbigene:54821 semapv:UnspecifiedMatching +OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:25657 semapv:UnspecifiedMatching +OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:BCORL1 semapv:UnspecifiedMatching +OMIM:300688 BCORL1 skos:exactMatch ncbigene:63035 semapv:UnspecifiedMatching +OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:19161 semapv:UnspecifiedMatching +OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:STARD8 semapv:UnspecifiedMatching +OMIM:300689 STARD8 skos:exactMatch ncbigene:9754 semapv:UnspecifiedMatching +OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:1036 semapv:UnspecifiedMatching +OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:BEX1 semapv:UnspecifiedMatching +OMIM:300690 BEX1 skos:exactMatch ncbigene:55859 semapv:UnspecifiedMatching +OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:30933 semapv:UnspecifiedMatching +OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:BEX2 semapv:UnspecifiedMatching +OMIM:300691 BEX2 skos:exactMatch ncbigene:84707 semapv:UnspecifiedMatching +OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:25475 semapv:UnspecifiedMatching +OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:BEX4 semapv:UnspecifiedMatching +OMIM:300692 BEX4 skos:exactMatch ncbigene:56271 semapv:UnspecifiedMatching +OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:27990 semapv:UnspecifiedMatching +OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:BEX5 semapv:UnspecifiedMatching +OMIM:300693 BEX5 skos:exactMatch ncbigene:340542 semapv:UnspecifiedMatching +OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:31603 semapv:UnspecifiedMatching +OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:MIR223 semapv:UnspecifiedMatching +OMIM:300694 MIR223 skos:exactMatch ncbigene:407008 semapv:UnspecifiedMatching +OMIM:300695 scapuloperoneal myopathy, X-linked dominant skos:exactMatch MONDO:0010400 semapv:UnspecifiedMatching +OMIM:300696 myopathy, x-linked, with postural muscle atrophy skos:exactMatch MONDO:0010401 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch UMLS:C1537395 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:30892 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:HUWE1 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch ncbigene:10075 semapv:UnspecifiedMatching +OMIM:300698 TMEM47 skos:exactMatch hgnc.symbol:18515 semapv:UnspecifiedMatching +OMIM:300698 TMEM47 skos:exactMatch hgnc.symbol:TMEM47 semapv:UnspecifiedMatching +OMIM:300698 TMEM47 skos:exactMatch ncbigene:83604 semapv:UnspecifiedMatching +OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch MONDO:0010402 semapv:UnspecifiedMatching +OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch Orphanet:364028 semapv:UnspecifiedMatching +OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch UMLS:C2678051 semapv:UnspecifiedMatching +OMIM:300700 albinism-deafness syndrome skos:exactMatch MONDO:0010403 semapv:UnspecifiedMatching +OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:27273 semapv:UnspecifiedMatching +OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:ZCCHC12 semapv:UnspecifiedMatching +OMIM:300701 ZCCHC12 skos:exactMatch ncbigene:170261 semapv:UnspecifiedMatching +OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:23793 semapv:UnspecifiedMatching +OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:MAGED4 semapv:UnspecifiedMatching +OMIM:300702 MAGED4 skos:exactMatch ncbigene:728239 semapv:UnspecifiedMatching +OMIM:300703 spinocerebellar ataxia, X-linked 5 skos:exactMatch MONDO:0010404 semapv:UnspecifiedMatching +OMIM:300704 prostate cancer, hereditary, X-linked 2 skos:exactMatch MONDO:0010405 semapv:UnspecifiedMatching +OMIM:300705 chromosome xp11.22 duplication syndrome skos:exactMatch MONDO:0010406 semapv:UnspecifiedMatching +OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations skos:exactMatch MONDO:0010408 semapv:UnspecifiedMatching +OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:28434 semapv:UnspecifiedMatching +OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:CCNQ semapv:UnspecifiedMatching +OMIM:300708 CCNQ skos:exactMatch ncbigene:92002 semapv:UnspecifiedMatching +OMIM:300709 intellectual developmental disorder, x-linked, syndromic 9 skos:exactMatch MONDO:0010409 semapv:UnspecifiedMatching +OMIM:300710 alopecia, androgenetic, 2 skos:exactMatch MONDO:0010410 semapv:UnspecifiedMatching +OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch MONDO:0010411 semapv:UnspecifiedMatching +OMIM:300712 craniofacioskeletal syndrome skos:exactMatch MONDO:0010412 semapv:UnspecifiedMatching +OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:25402 semapv:UnspecifiedMatching +OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:OTUD5 semapv:UnspecifiedMatching +OMIM:300713 OTUD5 skos:exactMatch ncbigene:55593 semapv:UnspecifiedMatching +OMIM:300714 OTUD6A skos:exactMatch hgnc.symbol:32312 semapv:UnspecifiedMatching +OMIM:300714 OTUD6A skos:exactMatch hgnc.symbol:OTUD6A semapv:UnspecifiedMatching +OMIM:300714 OTUD6A skos:exactMatch ncbigene:139562 semapv:UnspecifiedMatching +OMIM:300715 MAGT1 skos:exactMatch hgnc.symbol:28880 semapv:UnspecifiedMatching +OMIM:300715 MAGT1 skos:exactMatch hgnc.symbol:MAGT1 semapv:UnspecifiedMatching +OMIM:300715 MAGT1 skos:exactMatch ncbigene:84061 semapv:UnspecifiedMatching +OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch MONDO:0010413 semapv:UnspecifiedMatching +OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching +OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch UMLS:C2678034 semapv:UnspecifiedMatching +OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset skos:exactMatch MONDO:0010414 semapv:UnspecifiedMatching +OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset skos:exactMatch MONDO:0010415 semapv:UnspecifiedMatching +OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch MONDO:0010416 semapv:UnspecifiedMatching +OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:4099 semapv:UnspecifiedMatching +OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:GAGE2A semapv:UnspecifiedMatching +OMIM:300720 GAGE2A skos:exactMatch ncbigene:729447 semapv:UnspecifiedMatching +OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:31484 semapv:UnspecifiedMatching +OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:MIRLET7F2 semapv:UnspecifiedMatching +OMIM:300721 MIRLET7F2 skos:exactMatch ncbigene:406889 semapv:UnspecifiedMatching +OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:31576 semapv:UnspecifiedMatching +OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:MIR19B2 semapv:UnspecifiedMatching +OMIM:300722 MIR19B2 skos:exactMatch ncbigene:406981 semapv:UnspecifiedMatching +OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:15588 semapv:UnspecifiedMatching +OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:SYTL4 semapv:UnspecifiedMatching +OMIM:300723 SYTL4 skos:exactMatch ncbigene:94121 semapv:UnspecifiedMatching +OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:19701 semapv:UnspecifiedMatching +OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:CNKSR2 semapv:UnspecifiedMatching +OMIM:300724 CNKSR2 skos:exactMatch ncbigene:22866 semapv:UnspecifiedMatching +OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:19901 semapv:UnspecifiedMatching +OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:RRAGB semapv:UnspecifiedMatching +OMIM:300725 RRAGB skos:exactMatch ncbigene:10325 semapv:UnspecifiedMatching +OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:31957 semapv:UnspecifiedMatching +OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:GAGE2B semapv:UnspecifiedMatching +OMIM:300726 GAGE2B skos:exactMatch ncbigene:645037 semapv:UnspecifiedMatching +OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:28402 semapv:UnspecifiedMatching +OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:GAGE12C semapv:UnspecifiedMatching +OMIM:300727 GAGE12C skos:exactMatch ncbigene:729422 semapv:UnspecifiedMatching +OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:31904 semapv:UnspecifiedMatching +OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:GAGE12D semapv:UnspecifiedMatching +OMIM:300728 GAGE12D skos:exactMatch ncbigene:100132399 semapv:UnspecifiedMatching +OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:31905 semapv:UnspecifiedMatching +OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:GAGE12E semapv:UnspecifiedMatching +OMIM:300729 GAGE12E skos:exactMatch ncbigene:729431 semapv:UnspecifiedMatching +OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:31906 semapv:UnspecifiedMatching +OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:GAGE12F semapv:UnspecifiedMatching +OMIM:300730 GAGE12F skos:exactMatch ncbigene:100008586 semapv:UnspecifiedMatching +OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:31907 semapv:UnspecifiedMatching +OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:GAGE12G semapv:UnspecifiedMatching +OMIM:300731 GAGE12G skos:exactMatch ncbigene:645073 semapv:UnspecifiedMatching +OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:31908 semapv:UnspecifiedMatching +OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:GAGE12H semapv:UnspecifiedMatching +OMIM:300732 GAGE12H skos:exactMatch ncbigene:729442 semapv:UnspecifiedMatching +OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:17778 semapv:UnspecifiedMatching +OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:GAGE12J semapv:UnspecifiedMatching +OMIM:300733 GAGE12J skos:exactMatch ncbigene:729396 semapv:UnspecifiedMatching +OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:29081 semapv:UnspecifiedMatching +OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:GAGE13 semapv:UnspecifiedMatching +OMIM:300734 GAGE13 skos:exactMatch ncbigene:645051 semapv:UnspecifiedMatching +OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:31959 semapv:UnspecifiedMatching +OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:GAGE2D semapv:UnspecifiedMatching +OMIM:300735 GAGE2D skos:exactMatch ncbigene:729408 semapv:UnspecifiedMatching +OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:31960 semapv:UnspecifiedMatching +OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:GAGE2E semapv:UnspecifiedMatching +OMIM:300736 GAGE2E skos:exactMatch ncbigene:26749 semapv:UnspecifiedMatching +OMIM:300737 GAGE10 skos:exactMatch hgnc.symbol:30968 semapv:UnspecifiedMatching +OMIM:300737 GAGE10 skos:exactMatch hgnc.symbol:GAGE10 semapv:UnspecifiedMatching +OMIM:300737 GAGE10 skos:exactMatch ncbigene:102724473 semapv:UnspecifiedMatching +OMIM:300738 PAGE2 skos:exactMatch hgnc.symbol:31804 semapv:UnspecifiedMatching +OMIM:300738 PAGE2 skos:exactMatch hgnc.symbol:PAGE2 semapv:UnspecifiedMatching +OMIM:300738 PAGE2 skos:exactMatch ncbigene:203569 semapv:UnspecifiedMatching +OMIM:300739 PAGE3 skos:exactMatch hgnc.symbol:4110 semapv:UnspecifiedMatching +OMIM:300739 PAGE3 skos:exactMatch hgnc.symbol:PAGE3 semapv:UnspecifiedMatching +OMIM:300739 PAGE3 skos:exactMatch ncbigene:139793 semapv:UnspecifiedMatching +OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:14618 semapv:UnspecifiedMatching +OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:XAGE3 semapv:UnspecifiedMatching +OMIM:300740 XAGE3 skos:exactMatch ncbigene:170626 semapv:UnspecifiedMatching +OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:16949 semapv:UnspecifiedMatching +OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:FAM120C semapv:UnspecifiedMatching +OMIM:300741 FAM120C skos:exactMatch ncbigene:54954 semapv:UnspecifiedMatching +OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:4111 semapv:UnspecifiedMatching +OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:XAGE1A semapv:UnspecifiedMatching +OMIM:300742 XAGE1A skos:exactMatch ncbigene:653220 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C1366464 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C3275410 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C4016495 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C4016496 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C4016497 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch hgnc.symbol:3551 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch hgnc.symbol:F9 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch ncbigene:2158 semapv:UnspecifiedMatching +OMIM:300747 STS skos:exactMatch hgnc.symbol:11425 semapv:UnspecifiedMatching +OMIM:300747 STS skos:exactMatch hgnc.symbol:STS semapv:UnspecifiedMatching +OMIM:300747 STS skos:exactMatch ncbigene:412 semapv:UnspecifiedMatching +OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:4533 semapv:UnspecifiedMatching +OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:GPR82 semapv:UnspecifiedMatching +OMIM:300748 GPR82 skos:exactMatch ncbigene:27197 semapv:UnspecifiedMatching +OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia skos:exactMatch MONDO:0010417 semapv:UnspecifiedMatching +OMIM:300750 spastic paraplegia 34, X-linked skos:exactMatch MONDO:0010418 semapv:UnspecifiedMatching +OMIM:300751 anemia, sideroblastic, 1 skos:exactMatch MONDO:0020721 semapv:UnspecifiedMatching +OMIM:300752 protoporphyria, erythropoietic, X-linked skos:exactMatch MONDO:0010420 semapv:UnspecifiedMatching +OMIM:300753 APOO skos:exactMatch hgnc.symbol:28727 semapv:UnspecifiedMatching +OMIM:300753 APOO skos:exactMatch hgnc.symbol:APOO semapv:UnspecifiedMatching +OMIM:300753 APOO skos:exactMatch ncbigene:79135 semapv:UnspecifiedMatching +OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:17306 semapv:UnspecifiedMatching +OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:TAF9B semapv:UnspecifiedMatching +OMIM:300754 TAF9B skos:exactMatch ncbigene:51616 semapv:UnspecifiedMatching +OMIM:300755 agammaglobulinemia, X-linked skos:exactMatch MONDO:0010421 semapv:UnspecifiedMatching +OMIM:300756 alzheimer disease 16 skos:exactMatch MONDO:0010422 semapv:UnspecifiedMatching +OMIM:300757 RP2 skos:exactMatch hgnc.symbol:10274 semapv:UnspecifiedMatching +OMIM:300757 RP2 skos:exactMatch hgnc.symbol:RP2 semapv:UnspecifiedMatching +OMIM:300757 RP2 skos:exactMatch ncbigene:6102 semapv:UnspecifiedMatching +OMIM:300758 hypospadias 2, X-linked skos:exactMatch MONDO:0010423 semapv:UnspecifiedMatching +OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:24934 semapv:UnspecifiedMatching +OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:MAGEE1 semapv:UnspecifiedMatching +OMIM:300759 MAGEE1 skos:exactMatch ncbigene:57692 semapv:UnspecifiedMatching +OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:24935 semapv:UnspecifiedMatching +OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:MAGEE2 semapv:UnspecifiedMatching +OMIM:300760 MAGEE2 skos:exactMatch ncbigene:139599 semapv:UnspecifiedMatching +OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:25377 semapv:UnspecifiedMatching +OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:MAGEB10 semapv:UnspecifiedMatching +OMIM:300761 MAGEB10 skos:exactMatch ncbigene:139422 semapv:UnspecifiedMatching +OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:21188 semapv:UnspecifiedMatching +OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:MAGEB16 semapv:UnspecifiedMatching +OMIM:300762 MAGEB16 skos:exactMatch ncbigene:139604 semapv:UnspecifiedMatching +OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:17418 semapv:UnspecifiedMatching +OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:MAGEB17 semapv:UnspecifiedMatching +OMIM:300763 MAGEB17 skos:exactMatch ncbigene:645864 semapv:UnspecifiedMatching +OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:31909 semapv:UnspecifiedMatching +OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:MAGEA9B semapv:UnspecifiedMatching +OMIM:300764 MAGEA9B skos:exactMatch ncbigene:728269 semapv:UnspecifiedMatching +OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:22880 semapv:UnspecifiedMatching +OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:MAGED4B semapv:UnspecifiedMatching +OMIM:300765 MAGED4B skos:exactMatch ncbigene:81557 semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch UMLS:C2239784 semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch hgnc.symbol:29873 semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch hgnc.symbol:NKAP semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch ncbigene:79576 semapv:UnspecifiedMatching +OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:30305 semapv:UnspecifiedMatching +OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:RPA4 semapv:UnspecifiedMatching +OMIM:300767 RPA4 skos:exactMatch ncbigene:29935 semapv:UnspecifiedMatching +OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:2582 semapv:UnspecifiedMatching +OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:CYLC1 semapv:UnspecifiedMatching +OMIM:300768 CYLC1 skos:exactMatch ncbigene:1538 semapv:UnspecifiedMatching +OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:31604 semapv:UnspecifiedMatching +OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:MIR224 semapv:UnspecifiedMatching +OMIM:300769 MIR224 skos:exactMatch ncbigene:407009 semapv:UnspecifiedMatching +OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch MONDO:0010424 semapv:UnspecifiedMatching +OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:28336 semapv:UnspecifiedMatching +OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:TCEAL7 semapv:UnspecifiedMatching +OMIM:300771 TCEAL7 skos:exactMatch ncbigene:56849 semapv:UnspecifiedMatching +OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:24603 semapv:UnspecifiedMatching +OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:TFDP3 semapv:UnspecifiedMatching +OMIM:300772 TFDP3 skos:exactMatch ncbigene:51270 semapv:UnspecifiedMatching +OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:17889 semapv:UnspecifiedMatching +OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:APEX2 semapv:UnspecifiedMatching +OMIM:300773 APEX2 skos:exactMatch ncbigene:27301 semapv:UnspecifiedMatching +OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:16499 semapv:UnspecifiedMatching +OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:RAB39B semapv:UnspecifiedMatching +OMIM:300774 RAB39B skos:exactMatch ncbigene:116442 semapv:UnspecifiedMatching +OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:3319 semapv:UnspecifiedMatching +OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:ELF4 semapv:UnspecifiedMatching +OMIM:300775 ELF4 skos:exactMatch ncbigene:2000 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch UMLS:C1823172 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:30881 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:ALG13 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch ncbigene:79868 semapv:UnspecifiedMatching +OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:18308 semapv:UnspecifiedMatching +OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:TMLHE semapv:UnspecifiedMatching +OMIM:300777 TMLHE skos:exactMatch ncbigene:55217 semapv:UnspecifiedMatching +OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch MONDO:0010425 semapv:UnspecifiedMatching +OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching +OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching +OMIM:300779 corneal dystrophy, endothelial, X-linked skos:exactMatch MONDO:0010426 semapv:UnspecifiedMatching +OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:33282 semapv:UnspecifiedMatching +OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:CT47A1 semapv:UnspecifiedMatching +OMIM:300780 CT47A1 skos:exactMatch ncbigene:728096 semapv:UnspecifiedMatching +OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:33283 semapv:UnspecifiedMatching +OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:CT47A2 semapv:UnspecifiedMatching +OMIM:300781 CT47A2 skos:exactMatch ncbigene:728090 semapv:UnspecifiedMatching +OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:33284 semapv:UnspecifiedMatching +OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:CT47A3 semapv:UnspecifiedMatching +OMIM:300782 CT47A3 skos:exactMatch ncbigene:728082 semapv:UnspecifiedMatching +OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:33285 semapv:UnspecifiedMatching +OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:CT47A4 semapv:UnspecifiedMatching +OMIM:300783 CT47A4 skos:exactMatch ncbigene:728075 semapv:UnspecifiedMatching +OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:33286 semapv:UnspecifiedMatching +OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:CT47A5 semapv:UnspecifiedMatching +OMIM:300784 CT47A5 skos:exactMatch ncbigene:728072 semapv:UnspecifiedMatching +OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:33287 semapv:UnspecifiedMatching +OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:CT47A6 semapv:UnspecifiedMatching +OMIM:300785 CT47A6 skos:exactMatch ncbigene:728062 semapv:UnspecifiedMatching +OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:33288 semapv:UnspecifiedMatching +OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:CT47A7 semapv:UnspecifiedMatching +OMIM:300786 CT47A7 skos:exactMatch ncbigene:653282 semapv:UnspecifiedMatching +OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:33289 semapv:UnspecifiedMatching +OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:CT47A8 semapv:UnspecifiedMatching +OMIM:300787 CT47A8 skos:exactMatch ncbigene:728049 semapv:UnspecifiedMatching +OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:33290 semapv:UnspecifiedMatching +OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:CT47A9 semapv:UnspecifiedMatching +OMIM:300788 CT47A9 skos:exactMatch ncbigene:728042 semapv:UnspecifiedMatching +OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:33291 semapv:UnspecifiedMatching +OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:CT47A10 semapv:UnspecifiedMatching +OMIM:300789 CT47A10 skos:exactMatch ncbigene:728036 semapv:UnspecifiedMatching +OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:33293 semapv:UnspecifiedMatching +OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:CT47B1 semapv:UnspecifiedMatching +OMIM:300790 CT47B1 skos:exactMatch ncbigene:643311 semapv:UnspecifiedMatching +OMIM:300791 NRK skos:exactMatch hgnc.symbol:25391 semapv:UnspecifiedMatching +OMIM:300791 NRK skos:exactMatch hgnc.symbol:NRK semapv:UnspecifiedMatching +OMIM:300791 NRK skos:exactMatch ncbigene:203447 semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch UMLS:C1537763 semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:31494 semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:MIR106A semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch ncbigene:406899 semapv:UnspecifiedMatching +OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:28400 semapv:UnspecifiedMatching +OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:CT45A2 semapv:UnspecifiedMatching +OMIM:300793 CT45A2 skos:exactMatch ncbigene:728911 semapv:UnspecifiedMatching +OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:33268 semapv:UnspecifiedMatching +OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:CT45A3 semapv:UnspecifiedMatching +OMIM:300794 CT45A3 skos:exactMatch ncbigene:441519 semapv:UnspecifiedMatching +OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:33270 semapv:UnspecifiedMatching +OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:CT45A5 semapv:UnspecifiedMatching +OMIM:300796 CT45A5 skos:exactMatch ncbigene:441521 semapv:UnspecifiedMatching +OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:33271 semapv:UnspecifiedMatching +OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:CT45A6 semapv:UnspecifiedMatching +OMIM:300797 CT45A6 skos:exactMatch ncbigene:541465 semapv:UnspecifiedMatching +OMIM:300798 PHKA2 skos:exactMatch hgnc.symbol:8926 semapv:UnspecifiedMatching +OMIM:300798 PHKA2 skos:exactMatch hgnc.symbol:PHKA2 semapv:UnspecifiedMatching +OMIM:300798 PHKA2 skos:exactMatch ncbigene:5256 semapv:UnspecifiedMatching +OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch MONDO:0010427 semapv:UnspecifiedMatching +OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:163953 semapv:UnspecifiedMatching +OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching +OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching +OMIM:300801 chromosome xp11.23-p11.22 duplication syndrome skos:exactMatch MONDO:0010428 semapv:UnspecifiedMatching +OMIM:300802 intellectual developmental disorder, X-linked 96 skos:exactMatch MONDO:0010429 semapv:UnspecifiedMatching +OMIM:300803 intellectual developmental disorder, X-linked 97 skos:exactMatch MONDO:0010430 semapv:UnspecifiedMatching +OMIM:300804 joubert syndrome 10 skos:exactMatch MONDO:0010431 semapv:UnspecifiedMatching +OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:39081 semapv:UnspecifiedMatching +OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:FMR1-AS1 semapv:UnspecifiedMatching +OMIM:300805 FMR1AS1 skos:exactMatch ncbigene:100126270 semapv:UnspecifiedMatching +OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:3776 semapv:UnspecifiedMatching +OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:AFF2 semapv:UnspecifiedMatching +OMIM:300806 AFF2 skos:exactMatch ncbigene:2334 semapv:UnspecifiedMatching +OMIM:300807 thrombophilia, x-linked, due to factor 9 defect skos:exactMatch MONDO:0010432 semapv:UnspecifiedMatching +OMIM:300807 thrombophilia, x-linked, due to factor 9 defect skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching +OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:20145 semapv:UnspecifiedMatching +OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:GPR143 semapv:UnspecifiedMatching +OMIM:300808 GPR143 skos:exactMatch ncbigene:4935 semapv:UnspecifiedMatching +OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch MONDO:0010433 semapv:UnspecifiedMatching +OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:31649 semapv:UnspecifiedMatching +OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:MIR98 semapv:UnspecifiedMatching +OMIM:300810 MIR98 skos:exactMatch ncbigene:407054 semapv:UnspecifiedMatching +OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:31492 semapv:UnspecifiedMatching +OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:MIR105-1 semapv:UnspecifiedMatching +OMIM:300811 MIR105-1 skos:exactMatch ncbigene:406897 semapv:UnspecifiedMatching +OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:31493 semapv:UnspecifiedMatching +OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:MIR105-2 semapv:UnspecifiedMatching +OMIM:300812 MIR105-2 skos:exactMatch ncbigene:406898 semapv:UnspecifiedMatching +OMIM:300813 sarcoma, synovial skos:exactMatch MONDO:0010434 semapv:UnspecifiedMatching +OMIM:300814 nystagmus 6, congenital, X-linked skos:exactMatch MONDO:0010435 semapv:UnspecifiedMatching +OMIM:300814 nystagmus 6, congenital, X-linked skos:exactMatch UMLS:C3151752 semapv:UnspecifiedMatching +OMIM:300815 chromosome xq28 duplication syndrome skos:exactMatch MONDO:0010436 semapv:UnspecifiedMatching +OMIM:300816 combined oxidative phosphorylation deficiency 6 skos:exactMatch MONDO:0010437 semapv:UnspecifiedMatching +OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:26233 semapv:UnspecifiedMatching +OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:EFHC2 semapv:UnspecifiedMatching +OMIM:300817 EFHC2 skos:exactMatch ncbigene:80258 semapv:UnspecifiedMatching +OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch MONDO:0010438 semapv:UnspecifiedMatching +OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch Orphanet:447 semapv:UnspecifiedMatching +OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch UMLS:C3806670 semapv:UnspecifiedMatching +OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:28855 semapv:UnspecifiedMatching +OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:ZNF630 semapv:UnspecifiedMatching +OMIM:300819 ZNF630 skos:exactMatch ncbigene:57232 semapv:UnspecifiedMatching +OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:31689 semapv:UnspecifiedMatching +OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:MAP3K15 semapv:UnspecifiedMatching +OMIM:300820 MAP3K15 skos:exactMatch ncbigene:389840 semapv:UnspecifiedMatching +OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:4206 semapv:UnspecifiedMatching +OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:OPN1MW semapv:UnspecifiedMatching +OMIM:300821 OPN1MW skos:exactMatch ncbigene:2652 semapv:UnspecifiedMatching +OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:9936 semapv:UnspecifiedMatching +OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:OPN1LW semapv:UnspecifiedMatching +OMIM:300822 OPN1LW skos:exactMatch ncbigene:5956 semapv:UnspecifiedMatching +OMIM:300823 IDS skos:exactMatch hgnc.symbol:5389 semapv:UnspecifiedMatching +OMIM:300823 IDS skos:exactMatch hgnc.symbol:IDS semapv:UnspecifiedMatching +OMIM:300823 IDS skos:exactMatch ncbigene:3423 semapv:UnspecifiedMatching +OMIM:300824 opn1lw and opn1mw genes, controller of skos:exactMatch ncbigene:107604627 semapv:UnspecifiedMatching +OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:9890 semapv:UnspecifiedMatching +OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:RBBP7 semapv:UnspecifiedMatching +OMIM:300825 RBBP7 skos:exactMatch ncbigene:5931 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch UMLS:C1420449 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:11355 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:STAG2 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch ncbigene:10735 semapv:UnspecifiedMatching +OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:3672 semapv:UnspecifiedMatching +OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:FGF16 semapv:UnspecifiedMatching +OMIM:300827 FGF16 skos:exactMatch ncbigene:8823 semapv:UnspecifiedMatching +OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:26392 semapv:UnspecifiedMatching +OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:PTCHD1 semapv:UnspecifiedMatching +OMIM:300828 PTCHD1 skos:exactMatch ncbigene:139411 semapv:UnspecifiedMatching +OMIM:300829 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch MONDO:0010439 semapv:UnspecifiedMatching +OMIM:300830 autism, susceptibility to, X-linked 4 skos:exactMatch MONDO:0010440 semapv:UnspecifiedMatching +OMIM:300831 ck syndrome skos:exactMatch MONDO:0010441 semapv:UnspecifiedMatching +OMIM:300831 ck syndrome skos:exactMatch Orphanet:251383 semapv:UnspecifiedMatching +OMIM:300831 ck syndrome skos:exactMatch UMLS:C3151781 semapv:UnspecifiedMatching +OMIM:300832 JPX skos:exactMatch hgnc.symbol:37191 semapv:UnspecifiedMatching +OMIM:300832 JPX skos:exactMatch hgnc.symbol:JPX semapv:UnspecifiedMatching +OMIM:300832 JPX skos:exactMatch ncbigene:554203 semapv:UnspecifiedMatching +OMIM:300833 46,xx sex reversal 3 skos:exactMatch MONDO:0010442 semapv:UnspecifiedMatching +OMIM:300834 macular degeneration, atrophic, X-linked skos:exactMatch MONDO:0010443 semapv:UnspecifiedMatching +OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch MONDO:0010444 semapv:UnspecifiedMatching +OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch Orphanet:363727 semapv:UnspecifiedMatching +OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch UMLS:C3550856 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch UMLS:C1416536 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch UMLS:C4016502 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:6211 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:ANOS1 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch ncbigene:3730 semapv:UnspecifiedMatching +OMIM:300837 DGKK skos:exactMatch hgnc.symbol:32395 semapv:UnspecifiedMatching +OMIM:300837 DGKK skos:exactMatch hgnc.symbol:DGKK semapv:UnspecifiedMatching +OMIM:300837 DGKK skos:exactMatch ncbigene:139189 semapv:UnspecifiedMatching +OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:29007 semapv:UnspecifiedMatching +OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:FRMPD4 semapv:UnspecifiedMatching +OMIM:300838 FRMPD4 skos:exactMatch ncbigene:9758 semapv:UnspecifiedMatching +OMIM:300839 RS1 skos:exactMatch hgnc.symbol:10457 semapv:UnspecifiedMatching +OMIM:300839 RS1 skos:exactMatch hgnc.symbol:RS1 semapv:UnspecifiedMatching +OMIM:300839 RS1 skos:exactMatch ncbigene:6247 semapv:UnspecifiedMatching +OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:28911 semapv:UnspecifiedMatching +OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:PRAF2 semapv:UnspecifiedMatching +OMIM:300840 PRAF2 skos:exactMatch ncbigene:11230 semapv:UnspecifiedMatching +OMIM:300841 F8 skos:exactMatch hgnc.symbol:3546 semapv:UnspecifiedMatching +OMIM:300841 F8 skos:exactMatch hgnc.symbol:F8 semapv:UnspecifiedMatching +OMIM:300841 F8 skos:exactMatch ncbigene:2157 semapv:UnspecifiedMatching +OMIM:300842 mcleod syndrome skos:exactMatch MONDO:0018945 semapv:UnspecifiedMatching +OMIM:300843 bornholm eye disease skos:exactMatch MONDO:0010446 semapv:UnspecifiedMatching +OMIM:300844 intellectual developmental disorder, X-linked 19 skos:exactMatch MONDO:0010447 semapv:UnspecifiedMatching +OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism skos:exactMatch MONDO:0010448 semapv:UnspecifiedMatching +OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:18237 semapv:UnspecifiedMatching +OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:CD99L2 semapv:UnspecifiedMatching +OMIM:300846 CD99L2 skos:exactMatch ncbigene:83692 semapv:UnspecifiedMatching +OMIM:300847 autism, susceptibility to, X-linked 5 skos:exactMatch MONDO:0010449 semapv:UnspecifiedMatching +OMIM:300848 intellectual developmental disorder, X-linked 89 skos:exactMatch MONDO:0010450 semapv:UnspecifiedMatching +OMIM:300849 intellectual developmental disorder, X-linked 41 skos:exactMatch MONDO:0010451 semapv:UnspecifiedMatching +OMIM:300850 intellectual developmental disorder, X-linked 90 skos:exactMatch MONDO:0010452 semapv:UnspecifiedMatching +OMIM:300851 intellectual developmental disorder, X-linked 92 skos:exactMatch MONDO:0010453 semapv:UnspecifiedMatching +OMIM:300852 intellectual developmental disorder, X-linked 88 skos:exactMatch MONDO:0010454 semapv:UnspecifiedMatching +OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia skos:exactMatch MONDO:0010455 semapv:UnspecifiedMatching +OMIM:300854 renal cell carcinoma, xp11-associated skos:exactMatch MONDO:0010456 semapv:UnspecifiedMatching +OMIM:300855 ogden syndrome skos:exactMatch MONDO:0010457 semapv:UnspecifiedMatching +OMIM:300856 hypospadias 4, x-linked, susceptibility to skos:exactMatch MONDO:0010458 semapv:UnspecifiedMatching +OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia skos:exactMatch MONDO:0010459 semapv:UnspecifiedMatching +OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 skos:exactMatch MONDO:0010460 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch UMLS:C1824547 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:28909 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:CCDC22 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch ncbigene:28952 semapv:UnspecifiedMatching +OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia skos:exactMatch MONDO:0010461 semapv:UnspecifiedMatching +OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia skos:exactMatch MONDO:0010462 semapv:UnspecifiedMatching +OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:17152 semapv:UnspecifiedMatching +OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:ACOT9 semapv:UnspecifiedMatching +OMIM:300862 ACOT9 skos:exactMatch ncbigene:23597 semapv:UnspecifiedMatching +OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia skos:exactMatch MONDO:0010463 semapv:UnspecifiedMatching +OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked skos:exactMatch MONDO:0010464 semapv:UnspecifiedMatching +OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:32138 semapv:UnspecifiedMatching +OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:MIR503 semapv:UnspecifiedMatching +OMIM:300865 MIR503 skos:exactMatch ncbigene:574506 semapv:UnspecifiedMatching +OMIM:300866 MIR510 skos:exactMatch hgnc.symbol:32147 semapv:UnspecifiedMatching +OMIM:300866 MIR510 skos:exactMatch hgnc.symbol:MIR510 semapv:UnspecifiedMatching +OMIM:300866 MIR510 skos:exactMatch ncbigene:574515 semapv:UnspecifiedMatching +OMIM:300867 kabuki syndrome 2 skos:exactMatch MONDO:0010465 semapv:UnspecifiedMatching +OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch MONDO:0010466 semapv:UnspecifiedMatching +OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 semapv:UnspecifiedMatching +OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching +OMIM:300869 chromosome xq27.3-q28 duplication syndrome skos:exactMatch MONDO:0010467 semapv:UnspecifiedMatching +OMIM:300870 aneurysm, intracranial berry, 5 skos:exactMatch MONDO:0010468 semapv:UnspecifiedMatching +OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:28746 semapv:UnspecifiedMatching +OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:FUNDC1 semapv:UnspecifiedMatching +OMIM:300871 FUNDC1 skos:exactMatch ncbigene:139341 semapv:UnspecifiedMatching +OMIM:300872 autism, susceptibility to, X-linked 6 skos:exactMatch MONDO:0010469 semapv:UnspecifiedMatching +OMIM:300873 GNL3L skos:exactMatch hgnc.symbol:25553 semapv:UnspecifiedMatching +OMIM:300873 GNL3L skos:exactMatch hgnc.symbol:GNL3L semapv:UnspecifiedMatching +OMIM:300873 GNL3L skos:exactMatch ncbigene:54552 semapv:UnspecifiedMatching +OMIM:300874 MIR508 skos:exactMatch hgnc.symbol:32145 semapv:UnspecifiedMatching +OMIM:300874 MIR508 skos:exactMatch hgnc.symbol:MIR508 semapv:UnspecifiedMatching +OMIM:300874 MIR508 skos:exactMatch ncbigene:574513 semapv:UnspecifiedMatching +OMIM:300875 MIR509-1 skos:exactMatch hgnc.symbol:32146 semapv:UnspecifiedMatching +OMIM:300875 MIR509-1 skos:exactMatch hgnc.symbol:MIR509-1 semapv:UnspecifiedMatching +OMIM:300875 MIR509-1 skos:exactMatch ncbigene:574514 semapv:UnspecifiedMatching +OMIM:300876 MIR509-3 skos:exactMatch hgnc.symbol:33675 semapv:UnspecifiedMatching +OMIM:300876 MIR509-3 skos:exactMatch hgnc.symbol:MIR509-3 semapv:UnspecifiedMatching +OMIM:300876 MIR509-3 skos:exactMatch ncbigene:100126337 semapv:UnspecifiedMatching +OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:32143 semapv:UnspecifiedMatching +OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:MIR506 semapv:UnspecifiedMatching +OMIM:300877 MIR506 skos:exactMatch ncbigene:574511 semapv:UnspecifiedMatching +OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:13910 semapv:UnspecifiedMatching +OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:DMRTC1 semapv:UnspecifiedMatching +OMIM:300878 DMRTC1 skos:exactMatch ncbigene:63947 semapv:UnspecifiedMatching +OMIM:300879 XG skos:exactMatch hgnc.symbol:12806 semapv:UnspecifiedMatching +OMIM:300879 XG skos:exactMatch hgnc.symbol:XG semapv:UnspecifiedMatching +OMIM:300879 XG skos:exactMatch ncbigene:7499 semapv:UnspecifiedMatching +OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:9555 semapv:UnspecifiedMatching +OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:PSMD10 semapv:UnspecifiedMatching +OMIM:300880 PSMD10 skos:exactMatch ncbigene:5716 semapv:UnspecifiedMatching +OMIM:300881 skos:exactMatch MONDO:0010470 semapv:UnspecifiedMatching +OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch MONDO:0010471 semapv:UnspecifiedMatching +OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch UMLS:C3550903 semapv:UnspecifiedMatching +OMIM:300883 SNX12 skos:exactMatch hgnc.symbol:14976 semapv:UnspecifiedMatching +OMIM:300883 SNX12 skos:exactMatch hgnc.symbol:SNX12 semapv:UnspecifiedMatching +OMIM:300883 SNX12 skos:exactMatch ncbigene:29934 semapv:UnspecifiedMatching +OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch MONDO:0010472 semapv:UnspecifiedMatching +OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch Orphanet:324422 semapv:UnspecifiedMatching +OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching +OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching +OMIM:300885 COX7B skos:exactMatch hgnc.symbol:2291 semapv:UnspecifiedMatching +OMIM:300885 COX7B skos:exactMatch hgnc.symbol:COX7B semapv:UnspecifiedMatching +OMIM:300885 COX7B skos:exactMatch ncbigene:1349 semapv:UnspecifiedMatching +OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 skos:exactMatch MONDO:0010473 semapv:UnspecifiedMatching +OMIM:300887 linear skin defects with multiple congenital anomalies 2 skos:exactMatch MONDO:0010474 semapv:UnspecifiedMatching +OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch MONDO:0010475 semapv:UnspecifiedMatching +OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch Orphanet:329235 semapv:UnspecifiedMatching +OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch UMLS:C3550963 semapv:UnspecifiedMatching +OMIM:300889 ZC3H12B skos:exactMatch hgnc.symbol:17407 semapv:UnspecifiedMatching +OMIM:300889 ZC3H12B skos:exactMatch hgnc.symbol:ZC3H12B semapv:UnspecifiedMatching +OMIM:300889 ZC3H12B skos:exactMatch ncbigene:340554 semapv:UnspecifiedMatching +OMIM:300890 ASB9 skos:exactMatch hgnc.symbol:17184 semapv:UnspecifiedMatching +OMIM:300890 ASB9 skos:exactMatch hgnc.symbol:ASB9 semapv:UnspecifiedMatching +OMIM:300890 ASB9 skos:exactMatch ncbigene:140462 semapv:UnspecifiedMatching +OMIM:300891 ASB12 skos:exactMatch hgnc.symbol:19763 semapv:UnspecifiedMatching +OMIM:300891 ASB12 skos:exactMatch hgnc.symbol:ASB12 semapv:UnspecifiedMatching +OMIM:300891 ASB12 skos:exactMatch ncbigene:142689 semapv:UnspecifiedMatching +OMIM:300892 LINC00850 skos:exactMatch hgnc.symbol:45092 semapv:UnspecifiedMatching +OMIM:300892 LINC00850 skos:exactMatch hgnc.symbol:LINC00850 semapv:UnspecifiedMatching +OMIM:300892 LINC00850 skos:exactMatch ncbigene:101241891 semapv:UnspecifiedMatching +OMIM:300893 MIR502 skos:exactMatch hgnc.symbol:32136 semapv:UnspecifiedMatching +OMIM:300893 MIR502 skos:exactMatch hgnc.symbol:MIR502 semapv:UnspecifiedMatching +OMIM:300893 MIR502 skos:exactMatch ncbigene:574504 semapv:UnspecifiedMatching +OMIM:300894 neurodegeneration with brain iron accumulation 5 skos:exactMatch MONDO:0010476 semapv:UnspecifiedMatching +OMIM:300895 ohdo syndrome, X-linked skos:exactMatch MONDO:0010477 semapv:UnspecifiedMatching +OMIM:300895 ohdo syndrome, X-linked skos:exactMatch Orphanet:293707 semapv:UnspecifiedMatching +OMIM:300895 ohdo syndrome, X-linked skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching +OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch MONDO:0010478 semapv:UnspecifiedMatching +OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch Orphanet:356961 semapv:UnspecifiedMatching +OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch UMLS:C1537464 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:24931 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:ZC4H2 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch ncbigene:55906 semapv:UnspecifiedMatching +OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:48926 semapv:UnspecifiedMatching +OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:CDR1-AS semapv:UnspecifiedMatching +OMIM:300898 CDR1AS skos:exactMatch ncbigene:103611090 semapv:UnspecifiedMatching +OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:10350 semapv:UnspecifiedMatching +OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:RPL39 semapv:UnspecifiedMatching +OMIM:300899 RPL39 skos:exactMatch ncbigene:6170 semapv:UnspecifiedMatching +OMIM:300901 XACT skos:exactMatch hgnc.symbol:45056 semapv:UnspecifiedMatching +OMIM:300901 XACT skos:exactMatch hgnc.symbol:XACT semapv:UnspecifiedMatching +OMIM:300901 XACT skos:exactMatch ncbigene:105463123 semapv:UnspecifiedMatching +OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:10359 semapv:UnspecifiedMatching +OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:RPL36A semapv:UnspecifiedMatching +OMIM:300902 RPL36A skos:exactMatch ncbigene:6173 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch UMLS:C1539610 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:30245 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:GPR174 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch ncbigene:84636 semapv:UnspecifiedMatching +OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:6128 semapv:UnspecifiedMatching +OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:IRS4 semapv:UnspecifiedMatching +OMIM:300904 IRS4 skos:exactMatch ncbigene:8471 semapv:UnspecifiedMatching +OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 skos:exactMatch MONDO:0010479 semapv:UnspecifiedMatching +OMIM:300906 PDK3 skos:exactMatch hgnc.symbol:8811 semapv:UnspecifiedMatching +OMIM:300906 PDK3 skos:exactMatch hgnc.symbol:PDK3 semapv:UnspecifiedMatching +OMIM:300906 PDK3 skos:exactMatch ncbigene:5165 semapv:UnspecifiedMatching +OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:2484 semapv:UnspecifiedMatching +OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:CSTF2 semapv:UnspecifiedMatching +OMIM:300907 CSTF2 skos:exactMatch ncbigene:1478 semapv:UnspecifiedMatching +OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency skos:exactMatch MONDO:0010480 semapv:UnspecifiedMatching +OMIM:300909 angioedema induced by ace inhibitors, susceptibility to skos:exactMatch MONDO:0100003 semapv:UnspecifiedMatching +OMIM:300911 parkinsonism with spasticity, X-linked skos:exactMatch MONDO:0010482 semapv:UnspecifiedMatching +OMIM:300912 intellectual developmental disorder, X-linked 98 skos:exactMatch MONDO:0010483 semapv:UnspecifiedMatching +OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:22082 semapv:UnspecifiedMatching +OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:VMA21 semapv:UnspecifiedMatching +OMIM:300913 VMA21 skos:exactMatch ncbigene:203547 semapv:UnspecifiedMatching +OMIM:300914 deafness, X-linked 6 skos:exactMatch MONDO:0010484 semapv:UnspecifiedMatching +OMIM:300915 microphthalmia, syndromic 13 skos:exactMatch MONDO:0010485 semapv:UnspecifiedMatching +OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:18743 semapv:UnspecifiedMatching +OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:PNMA5 semapv:UnspecifiedMatching +OMIM:300916 PNMA5 skos:exactMatch ncbigene:114824 semapv:UnspecifiedMatching +OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:28248 semapv:UnspecifiedMatching +OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:PNMA6A semapv:UnspecifiedMatching +OMIM:300917 PNMA6A skos:exactMatch ncbigene:84968 semapv:UnspecifiedMatching +OMIM:300918 olmsted syndrome, X-linked skos:exactMatch MONDO:0010486 semapv:UnspecifiedMatching +OMIM:300919 intellectual developmental disorder, X-linked 99 skos:exactMatch MONDO:0010487 semapv:UnspecifiedMatching +OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:24173 semapv:UnspecifiedMatching +OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:ATXN3L semapv:UnspecifiedMatching +OMIM:300920 ATXN3L skos:exactMatch ncbigene:92552 semapv:UnspecifiedMatching +OMIM:300921 BHLHB9 skos:exactMatch hgnc.symbol:GPRASP3 semapv:UnspecifiedMatching +OMIM:300921 BHLHB9 skos:exactMatch ncbigene:80823 semapv:UnspecifiedMatching +OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:1934 semapv:UnspecifiedMatching +OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:CHIC1 semapv:UnspecifiedMatching +OMIM:300922 CHIC1 skos:exactMatch ncbigene:53344 semapv:UnspecifiedMatching +OMIM:300923 intellectual developmental disorder, X-linked 100 skos:exactMatch MONDO:0010488 semapv:UnspecifiedMatching +OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:23252 semapv:UnspecifiedMatching +OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:AWAT1 semapv:UnspecifiedMatching +OMIM:300924 AWAT1 skos:exactMatch ncbigene:158833 semapv:UnspecifiedMatching +OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:23251 semapv:UnspecifiedMatching +OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:AWAT2 semapv:UnspecifiedMatching +OMIM:300925 AWAT2 skos:exactMatch ncbigene:158835 semapv:UnspecifiedMatching +OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:23250 semapv:UnspecifiedMatching +OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:DGAT2L6 semapv:UnspecifiedMatching +OMIM:300926 DGAT2L6 skos:exactMatch ncbigene:347516 semapv:UnspecifiedMatching +OMIM:300927 PRDX4 skos:exactMatch hgnc.symbol:17169 semapv:UnspecifiedMatching +OMIM:300927 PRDX4 skos:exactMatch hgnc.symbol:PRDX4 semapv:UnspecifiedMatching +OMIM:300927 PRDX4 skos:exactMatch ncbigene:10549 semapv:UnspecifiedMatching +OMIM:300928 intellectual developmental disorder, X-linked 101 skos:exactMatch MONDO:0010489 semapv:UnspecifiedMatching +OMIM:300929 MIR718 skos:exactMatch hgnc.symbol:37317 semapv:UnspecifiedMatching +OMIM:300929 MIR718 skos:exactMatch hgnc.symbol:MIR718 semapv:UnspecifiedMatching +OMIM:300929 MIR718 skos:exactMatch ncbigene:100313781 semapv:UnspecifiedMatching +OMIM:300930 MAP7D3 skos:exactMatch hgnc.symbol:25742 semapv:UnspecifiedMatching +OMIM:300930 MAP7D3 skos:exactMatch hgnc.symbol:MAP7D3 semapv:UnspecifiedMatching +OMIM:300930 MAP7D3 skos:exactMatch ncbigene:79649 semapv:UnspecifiedMatching +OMIM:300931 PIR skos:exactMatch hgnc.symbol:30048 semapv:UnspecifiedMatching +OMIM:300931 PIR skos:exactMatch hgnc.symbol:PIR semapv:UnspecifiedMatching +OMIM:300931 PIR skos:exactMatch ncbigene:8544 semapv:UnspecifiedMatching +OMIM:300933 PIH1D3 skos:exactMatch hgnc.symbol:28570 semapv:UnspecifiedMatching +OMIM:300933 PIH1D3 skos:exactMatch hgnc.symbol:DNAAF6 semapv:UnspecifiedMatching +OMIM:300933 PIH1D3 skos:exactMatch ncbigene:139212 semapv:UnspecifiedMatching +OMIM:300934 congenital disorder of glycosylation, iia iy skos:exactMatch MONDO:0010490 semapv:UnspecifiedMatching +OMIM:300935 PRRG1 skos:exactMatch hgnc.symbol:9469 semapv:UnspecifiedMatching +OMIM:300935 PRRG1 skos:exactMatch hgnc.symbol:PRRG1 semapv:UnspecifiedMatching +OMIM:300935 PRRG1 skos:exactMatch ncbigene:5638 semapv:UnspecifiedMatching +OMIM:300936 FTX skos:exactMatch hgnc.symbol:37190 semapv:UnspecifiedMatching +OMIM:300936 FTX skos:exactMatch hgnc.symbol:FTX semapv:UnspecifiedMatching +OMIM:300936 FTX skos:exactMatch ncbigene:100302692 semapv:UnspecifiedMatching +OMIM:300937 ARHGAP36 skos:exactMatch hgnc.symbol:26388 semapv:UnspecifiedMatching +OMIM:300937 ARHGAP36 skos:exactMatch hgnc.symbol:ARHGAP36 semapv:UnspecifiedMatching +OMIM:300937 ARHGAP36 skos:exactMatch ncbigene:158763 semapv:UnspecifiedMatching +OMIM:300938 MXRA5 skos:exactMatch hgnc.symbol:7539 semapv:UnspecifiedMatching +OMIM:300938 MXRA5 skos:exactMatch hgnc.symbol:MXRA5 semapv:UnspecifiedMatching +OMIM:300938 MXRA5 skos:exactMatch ncbigene:25878 semapv:UnspecifiedMatching +OMIM:300939 TMSB15A skos:exactMatch hgnc.symbol:30744 semapv:UnspecifiedMatching +OMIM:300939 TMSB15A skos:exactMatch hgnc.symbol:TMSB15A semapv:UnspecifiedMatching +OMIM:300939 TMSB15A skos:exactMatch ncbigene:11013 semapv:UnspecifiedMatching +OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:25974 semapv:UnspecifiedMatching +OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:GDPD2 semapv:UnspecifiedMatching +OMIM:300940 GDPD2 skos:exactMatch ncbigene:54857 semapv:UnspecifiedMatching +OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:31894 semapv:UnspecifiedMatching +OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:SLC25A53 semapv:UnspecifiedMatching +OMIM:300941 SLC25A53 skos:exactMatch ncbigene:401612 semapv:UnspecifiedMatching +OMIM:300942 chromosome xq26.3 duplication syndrome skos:exactMatch MONDO:0010491 semapv:UnspecifiedMatching +OMIM:300943 pituitary adenoma 2, growth hormone-secreting skos:exactMatch MONDO:0010492 semapv:UnspecifiedMatching +OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:24294 semapv:UnspecifiedMatching +OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:CSAG1 semapv:UnspecifiedMatching +OMIM:300944 CSAG1 skos:exactMatch ncbigene:158511 semapv:UnspecifiedMatching +OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:25455 semapv:UnspecifiedMatching +OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:TSR2 semapv:UnspecifiedMatching +OMIM:300945 TSR2 skos:exactMatch ncbigene:90121 semapv:UnspecifiedMatching +OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch MONDO:0010493 semapv:UnspecifiedMatching +OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:28910 semapv:UnspecifiedMatching +OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:CCDC120 semapv:UnspecifiedMatching +OMIM:300947 CCDC120 skos:exactMatch ncbigene:90060 semapv:UnspecifiedMatching +OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:8755 semapv:UnspecifiedMatching +OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:PCYT1B semapv:UnspecifiedMatching +OMIM:300948 PCYT1B skos:exactMatch ncbigene:9468 semapv:UnspecifiedMatching +OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:30469 semapv:UnspecifiedMatching +OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:FOXR2 semapv:UnspecifiedMatching +OMIM:300949 FOXR2 skos:exactMatch ncbigene:139628 semapv:UnspecifiedMatching +OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:32024 semapv:UnspecifiedMatching +OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:MIR20B semapv:UnspecifiedMatching +OMIM:300950 MIR20B skos:exactMatch ncbigene:574032 semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch UMLS:C1538859 semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:12974 semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:RNF113A semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch ncbigene:7737 semapv:UnspecifiedMatching +OMIM:300952 linear skin defects with multiple congenital anomalies 3 skos:exactMatch MONDO:0010494 semapv:UnspecifiedMatching +OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch MONDO:0010495 semapv:UnspecifiedMatching +OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching +OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching +OMIM:300954 EOLA1 skos:exactMatch UMLS:C1824828 semapv:UnspecifiedMatching +OMIM:300954 EOLA1 skos:exactMatch hgnc.symbol:28089 semapv:UnspecifiedMatching +OMIM:300954 EOLA1 skos:exactMatch hgnc.symbol:EOLA1 semapv:UnspecifiedMatching +OMIM:300954 EOLA1 skos:exactMatch ncbigene:91966 semapv:UnspecifiedMatching +OMIM:300955 APOOL skos:exactMatch hgnc.symbol:24009 semapv:UnspecifiedMatching +OMIM:300955 APOOL skos:exactMatch hgnc.symbol:APOOL semapv:UnspecifiedMatching +OMIM:300955 APOOL skos:exactMatch ncbigene:139322 semapv:UnspecifiedMatching +OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:18615 semapv:UnspecifiedMatching +OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:BRAFP1 semapv:UnspecifiedMatching +OMIM:300956 BRAFP1 skos:exactMatch ncbigene:286494 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch MONDO:0010496 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796242 semapv:UnspecifiedMatching +OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch MONDO:0010497 semapv:UnspecifiedMatching +OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching +OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching +OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:25866 semapv:UnspecifiedMatching +OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:DIPK2B semapv:UnspecifiedMatching +OMIM:300959 DIPK2B skos:exactMatch ncbigene:79742 semapv:UnspecifiedMatching +OMIM:300960 mend syndrome skos:exactMatch MONDO:0010498 semapv:UnspecifiedMatching +OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:20715 semapv:UnspecifiedMatching +OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:MID1IP1 semapv:UnspecifiedMatching +OMIM:300961 MID1IP1 skos:exactMatch ncbigene:58526 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch UMLS:C1825340 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:26044 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:GEMIN8 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch ncbigene:54960 semapv:UnspecifiedMatching +OMIM:300963 ritscher-schinzel syndrome 2 skos:exactMatch MONDO:0010499 semapv:UnspecifiedMatching +OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:25726 semapv:UnspecifiedMatching +OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:LAS1L semapv:UnspecifiedMatching +OMIM:300964 LAS1L skos:exactMatch ncbigene:81887 semapv:UnspecifiedMatching +OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:29245 semapv:UnspecifiedMatching +OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:RTL9 semapv:UnspecifiedMatching +OMIM:300965 RGAG1 skos:exactMatch ncbigene:57529 semapv:UnspecifiedMatching +OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 skos:exactMatch MONDO:0010500 semapv:UnspecifiedMatching +OMIM:300967 intellectual developmental disorder, x-linked, syndromic 34 skos:exactMatch MONDO:0010501 semapv:UnspecifiedMatching +OMIM:300968 intellectual developmental disorder, X-linked 99, syndromic, female-restricted skos:exactMatch MONDO:0010502 semapv:UnspecifiedMatching +OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:25169 semapv:UnspecifiedMatching +OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:GPRASP2 semapv:UnspecifiedMatching +OMIM:300969 GPRASP2 skos:exactMatch ncbigene:114928 semapv:UnspecifiedMatching +OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:23485 semapv:UnspecifiedMatching +OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:MORC4 semapv:UnspecifiedMatching +OMIM:300970 MORC4 skos:exactMatch ncbigene:79710 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch MONDO:0010503 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:93604 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch UMLS:C4310820 semapv:UnspecifiedMatching +OMIM:300972 immunodeficiency 47 skos:exactMatch MONDO:0010504 semapv:UnspecifiedMatching +OMIM:300972 immunodeficiency 47 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching +OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:51580 semapv:UnspecifiedMatching +OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:RHOXF1P1 semapv:UnspecifiedMatching +OMIM:300973 RHOXF1P1 skos:exactMatch ncbigene:101928941 semapv:UnspecifiedMatching +OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:23148 semapv:UnspecifiedMatching +OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:PLCXD1 semapv:UnspecifiedMatching +OMIM:300974 PLCXD1 skos:exactMatch ncbigene:55344 semapv:UnspecifiedMatching +OMIM:300975 USP27X skos:exactMatch hgnc.symbol:13486 semapv:UnspecifiedMatching +OMIM:300975 USP27X skos:exactMatch hgnc.symbol:USP27X semapv:UnspecifiedMatching +OMIM:300975 USP27X skos:exactMatch ncbigene:389856 semapv:UnspecifiedMatching +OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:28399 semapv:UnspecifiedMatching +OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:TENT5D semapv:UnspecifiedMatching +OMIM:300976 FAM46D skos:exactMatch ncbigene:169966 semapv:UnspecifiedMatching +OMIM:300977 scholte syndrome skos:exactMatch MONDO:0010505 semapv:UnspecifiedMatching +OMIM:300978 tonne-kalscheuer syndrome skos:exactMatch MONDO:0010506 semapv:UnspecifiedMatching +OMIM:300979 chromosome xq25 duplication syndrome skos:exactMatch MONDO:0010507 semapv:UnspecifiedMatching +OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:29347 semapv:UnspecifiedMatching +OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:KLHL15 semapv:UnspecifiedMatching +OMIM:300980 KLHL15 skos:exactMatch ncbigene:80311 semapv:UnspecifiedMatching +OMIM:300981 VCX3B skos:exactMatch hgnc.symbol:31838 semapv:UnspecifiedMatching +OMIM:300981 VCX3B skos:exactMatch hgnc.symbol:VCX3B semapv:UnspecifiedMatching +OMIM:300981 VCX3B skos:exactMatch ncbigene:425054 semapv:UnspecifiedMatching +OMIM:300982 intellectual developmental disorder, X-linked 103 skos:exactMatch MONDO:0010508 semapv:UnspecifiedMatching +OMIM:300983 intellectual developmental disorder, X-linked 104 skos:exactMatch MONDO:0010509 semapv:UnspecifiedMatching +OMIM:300984 intellectual developmental disorder, X-linked 105 skos:exactMatch MONDO:0010510 semapv:UnspecifiedMatching +OMIM:300985 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch MONDO:0010511 semapv:UnspecifiedMatching +OMIM:300986 intellectual developmental disorder, x-linked, syndromic, bain iia skos:exactMatch MONDO:0010512 semapv:UnspecifiedMatching +OMIM:300988 immunodeficiency 50 skos:exactMatch MONDO:0010514 semapv:UnspecifiedMatching +OMIM:300989 meester-loeys syndrome skos:exactMatch MONDO:0010515 semapv:UnspecifiedMatching +OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch MONDO:0010516 semapv:UnspecifiedMatching +OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching +OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch UMLS:C4310810 semapv:UnspecifiedMatching +OMIM:300991 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch MONDO:0010517 semapv:UnspecifiedMatching +OMIM:300992 NBDY skos:exactMatch hgnc.symbol:50713 semapv:UnspecifiedMatching +OMIM:300992 NBDY skos:exactMatch hgnc.symbol:NBDY semapv:UnspecifiedMatching +OMIM:300992 NBDY skos:exactMatch ncbigene:550643 semapv:UnspecifiedMatching +OMIM:300993 PASD1 skos:exactMatch hgnc.symbol:20686 semapv:UnspecifiedMatching +OMIM:300993 PASD1 skos:exactMatch hgnc.symbol:PASD1 semapv:UnspecifiedMatching +OMIM:300993 PASD1 skos:exactMatch ncbigene:139135 semapv:UnspecifiedMatching +OMIM:300994 HDX skos:exactMatch hgnc.symbol:26411 semapv:UnspecifiedMatching +OMIM:300994 HDX skos:exactMatch hgnc.symbol:HDX semapv:UnspecifiedMatching +OMIM:300994 HDX skos:exactMatch ncbigene:139324 semapv:UnspecifiedMatching +OMIM:300995 KIAA1210 skos:exactMatch hgnc.symbol:29218 semapv:UnspecifiedMatching +OMIM:300995 KIAA1210 skos:exactMatch hgnc.symbol:KIAA1210 semapv:UnspecifiedMatching +OMIM:300995 KIAA1210 skos:exactMatch ncbigene:57481 semapv:UnspecifiedMatching +OMIM:300996 YIPF6 skos:exactMatch UMLS:C1823891 semapv:UnspecifiedMatching +OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:28304 semapv:UnspecifiedMatching +OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:YIPF6 semapv:UnspecifiedMatching +OMIM:300996 YIPF6 skos:exactMatch ncbigene:286451 semapv:UnspecifiedMatching +OMIM:300997 intellectual developmental disorder, X-linked 106 skos:exactMatch MONDO:0030907 semapv:UnspecifiedMatching +OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 skos:exactMatch MONDO:0030908 semapv:UnspecifiedMatching +OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:49627 semapv:UnspecifiedMatching +OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:FIRRE semapv:UnspecifiedMatching +OMIM:300999 FIRRE skos:exactMatch ncbigene:286467 semapv:UnspecifiedMatching +OMIM:301000 wiskott-aldrich syndrome skos:exactMatch MONDO:0010518 semapv:UnspecifiedMatching +OMIM:301000 wiskott-aldrich syndrome skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching +OMIM:301000 wiskott-aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching +OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:50863 semapv:UnspecifiedMatching +OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:DANT1 semapv:UnspecifiedMatching +OMIM:301001 DANT1 skos:exactMatch ncbigene:106029310 semapv:UnspecifiedMatching +OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:11402 semapv:UnspecifiedMatching +OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:SRPK3 semapv:UnspecifiedMatching +OMIM:301002 SRPK3 skos:exactMatch ncbigene:26576 semapv:UnspecifiedMatching +OMIM:301003 GPKOW skos:exactMatch hgnc.symbol:30677 semapv:UnspecifiedMatching +OMIM:301003 GPKOW skos:exactMatch hgnc.symbol:GPKOW semapv:UnspecifiedMatching +OMIM:301003 GPKOW skos:exactMatch ncbigene:27238 semapv:UnspecifiedMatching +OMIM:301004 DANT2 skos:exactMatch hgnc.symbol:50862 semapv:UnspecifiedMatching +OMIM:301004 DANT2 skos:exactMatch hgnc.symbol:DANT2 semapv:UnspecifiedMatching +OMIM:301004 DANT2 skos:exactMatch ncbigene:642776 semapv:UnspecifiedMatching +OMIM:301005 FRMPD3 skos:exactMatch hgnc.symbol:29382 semapv:UnspecifiedMatching +OMIM:301005 FRMPD3 skos:exactMatch hgnc.symbol:FRMPD3 semapv:UnspecifiedMatching +OMIM:301005 FRMPD3 skos:exactMatch ncbigene:84443 semapv:UnspecifiedMatching +OMIM:301006 galloway-mowat syndrome 2, X-linked skos:exactMatch MONDO:0033006 semapv:UnspecifiedMatching +OMIM:301007 ZMAT1 skos:exactMatch hgnc.symbol:29377 semapv:UnspecifiedMatching +OMIM:301007 ZMAT1 skos:exactMatch hgnc.symbol:ZMAT1 semapv:UnspecifiedMatching +OMIM:301007 ZMAT1 skos:exactMatch ncbigene:84460 semapv:UnspecifiedMatching +OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge iia skos:exactMatch MONDO:0030909 semapv:UnspecifiedMatching +OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:29992 semapv:UnspecifiedMatching +OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:PAGE5 semapv:UnspecifiedMatching +OMIM:301009 PAGE5 skos:exactMatch ncbigene:90737 semapv:UnspecifiedMatching +OMIM:301010 myopia 26, x-linked, female-limited skos:exactMatch MONDO:0049221 semapv:UnspecifiedMatching +OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:28612 semapv:UnspecifiedMatching +OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:TMSB15B semapv:UnspecifiedMatching +OMIM:301011 TMSB15B skos:exactMatch ncbigene:286527 semapv:UnspecifiedMatching +OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:26239 semapv:UnspecifiedMatching +OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:STEEP1 semapv:UnspecifiedMatching +OMIM:301012 STEEP1 skos:exactMatch ncbigene:63932 semapv:UnspecifiedMatching +OMIM:301013 intellectual developmental disorder, X-linked 107 skos:exactMatch MONDO:0049222 semapv:UnspecifiedMatching +OMIM:301014 osteogenesis imperfecta, iia 19 skos:exactMatch MONDO:0049223 semapv:UnspecifiedMatching +OMIM:301015 hemolytic anemia, congenital, X-linked skos:exactMatch MONDO:0060455 semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch UMLS:C1427380 semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:21165 semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:RAP2C semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch ncbigene:57826 semapv:UnspecifiedMatching +OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:16324 semapv:UnspecifiedMatching +OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:PPP1R2C semapv:UnspecifiedMatching +OMIM:301017 PPP1R2C skos:exactMatch ncbigene:80316 semapv:UnspecifiedMatching +OMIM:301018 deafness, X-linked 7 skos:exactMatch MONDO:0044702 semapv:UnspecifiedMatching +OMIM:301019 KANTR skos:exactMatch hgnc.symbol:49510 semapv:UnspecifiedMatching +OMIM:301019 KANTR skos:exactMatch hgnc.symbol:KANTR semapv:UnspecifiedMatching +OMIM:301019 KANTR skos:exactMatch ncbigene:102723508 semapv:UnspecifiedMatching +OMIM:301020 mitochondrial complex 1 deficiency, nuclear iia 12 skos:exactMatch MONDO:0026720 semapv:UnspecifiedMatching +OMIM:301021 mitochondrial complex 1 deficiency, nuclear iia 30 skos:exactMatch MONDO:0026721 semapv:UnspecifiedMatching +OMIM:301022 mullegama-klein-martinez syndrome skos:exactMatch MONDO:0026722 semapv:UnspecifiedMatching +OMIM:301022 mullegama-klein-martinez syndrome skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching +OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:32795 semapv:UnspecifiedMatching +OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:MIR532 semapv:UnspecifiedMatching +OMIM:301023 MIR532 skos:exactMatch ncbigene:693124 semapv:UnspecifiedMatching +OMIM:301024 intellectual developmental disorder, X-linked 108 skos:exactMatch MONDO:0026723 semapv:UnspecifiedMatching +OMIM:301024 intellectual developmental disorder, X-linked 108 skos:exactMatch UMLS:C5193009 semapv:UnspecifiedMatching +OMIM:301025 paganini-miozzo syndrome skos:exactMatch MONDO:0026724 semapv:UnspecifiedMatching +OMIM:301026 keipert syndrome skos:exactMatch MONDO:0009720 semapv:UnspecifiedMatching +OMIM:301026 keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching +OMIM:301026 keipert syndrome skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching +OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:24715 semapv:UnspecifiedMatching +OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:TBC1D8B semapv:UnspecifiedMatching +OMIM:301027 TBC1D8B skos:exactMatch ncbigene:54885 semapv:UnspecifiedMatching +OMIM:301028 nephrotic syndrome, iia 20 skos:exactMatch MONDO:0026726 semapv:UnspecifiedMatching +OMIM:301029 shukla-vernon syndrome skos:exactMatch MONDO:0026727 semapv:UnspecifiedMatching +OMIM:301030 van esch-o'driscoll syndrome skos:exactMatch MONDO:0015601 semapv:UnspecifiedMatching +OMIM:301031 congenital disorder of glycosylation, iia icc skos:exactMatch MONDO:0026729 semapv:UnspecifiedMatching +OMIM:301032 basilicata-akhtar syndrome skos:exactMatch MONDO:0026730 semapv:UnspecifiedMatching +OMIM:301032 basilicata-akhtar syndrome skos:exactMatch UMLS:C5231394 semapv:UnspecifiedMatching +OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 skos:exactMatch MONDO:0026731 semapv:UnspecifiedMatching +OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:18399 semapv:UnspecifiedMatching +OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:DHRSX semapv:UnspecifiedMatching +OMIM:301034 DHRSX skos:exactMatch ncbigene:207063 semapv:UnspecifiedMatching +OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 skos:exactMatch MONDO:0026732 semapv:UnspecifiedMatching +OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:33738 semapv:UnspecifiedMatching +OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:EZHIP semapv:UnspecifiedMatching +OMIM:301036 EZHIP skos:exactMatch ncbigene:340602 semapv:UnspecifiedMatching +OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:22516 semapv:UnspecifiedMatching +OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:H2AB1 semapv:UnspecifiedMatching +OMIM:301037 H2AB1 skos:exactMatch ncbigene:474382 semapv:UnspecifiedMatching +OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:18298 semapv:UnspecifiedMatching +OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:H2AB2 semapv:UnspecifiedMatching +OMIM:301038 H2AB2 skos:exactMatch ncbigene:474381 semapv:UnspecifiedMatching +OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia skos:exactMatch MONDO:0026733 semapv:UnspecifiedMatching +OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching +OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked skos:exactMatch MONDO:0010519 semapv:UnspecifiedMatching +OMIM:301041 wieacker-wolff syndrome, female-restricted skos:exactMatch MONDO:0026762 semapv:UnspecifiedMatching +OMIM:301041 wieacker-wolff syndrome, female-restricted skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching +OMIM:301042 FUNDC2 skos:exactMatch UMLS:C1539540 semapv:UnspecifiedMatching +OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:24925 semapv:UnspecifiedMatching +OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:FUNDC2 semapv:UnspecifiedMatching +OMIM:301042 FUNDC2 skos:exactMatch ncbigene:65991 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch MONDO:0026763 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:93925 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching +OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects skos:exactMatch MONDO:0026771 semapv:UnspecifiedMatching +OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching +OMIM:301045 congenital disorder of glycosylation, iia iir skos:exactMatch MONDO:0026765 semapv:UnspecifiedMatching +OMIM:301045 congenital disorder of glycosylation, iia iir skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch UMLS:C1538942 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:28615 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:ARMCX4 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch ncbigene:100131755 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch UMLS:C1538943 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:25772 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:ARMCX5 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch ncbigene:64860 semapv:UnspecifiedMatching +OMIM:301048 ARMCX6 skos:exactMatch UMLS:C1538944 semapv:UnspecifiedMatching +OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:26094 semapv:UnspecifiedMatching +OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:ARMCX6 semapv:UnspecifiedMatching +OMIM:301048 ARMCX6 skos:exactMatch ncbigene:54470 semapv:UnspecifiedMatching +OMIM:301049 TASL skos:exactMatch UMLS:C1539172 semapv:UnspecifiedMatching +OMIM:301049 TASL skos:exactMatch hgnc.symbol:25667 semapv:UnspecifiedMatching +OMIM:301049 TASL skos:exactMatch hgnc.symbol:TASL semapv:UnspecifiedMatching +OMIM:301049 TASL skos:exactMatch ncbigene:80231 semapv:UnspecifiedMatching +OMIM:301050 alport syndrome 1, X-linked skos:exactMatch MONDO:0010520 semapv:UnspecifiedMatching +OMIM:301051 immunodeficiency 74, covid19-related, X-linked skos:exactMatch MONDO:0026767 semapv:UnspecifiedMatching +OMIM:301051 immunodeficiency 74, covid19-related, X-linked skos:exactMatch UMLS:C5435745 semapv:UnspecifiedMatching +OMIM:301052 warfarin sensitivity, X-linked skos:exactMatch MONDO:0026768 semapv:UnspecifiedMatching +OMIM:301052 warfarin sensitivity, X-linked skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch UMLS:C1826059 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:32140 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:MIR505 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch ncbigene:574508 semapv:UnspecifiedMatching +OMIM:301054 vexas syndrome skos:exactMatch MONDO:0026777 semapv:UnspecifiedMatching +OMIM:301054 vexas syndrome skos:exactMatch UMLS:C5435753 semapv:UnspecifiedMatching +OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:2332 semapv:UnspecifiedMatching +OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:CPXCR1 semapv:UnspecifiedMatching +OMIM:301055 CPXCR1 skos:exactMatch ncbigene:53336 semapv:UnspecifiedMatching +OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked skos:exactMatch MONDO:0025351 semapv:UnspecifiedMatching +OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:26708 semapv:UnspecifiedMatching +OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:CFAP47 semapv:UnspecifiedMatching +OMIM:301057 CFAP47 skos:exactMatch ncbigene:286464 semapv:UnspecifiedMatching +OMIM:301058 developmental and epileptic encephalopathy 90 skos:exactMatch MONDO:0025353 semapv:UnspecifiedMatching +OMIM:301059 spermatogenic failure, x-linked, 3 skos:exactMatch MONDO:0025354 semapv:UnspecifiedMatching +OMIM:301060 azoospermia, obstructive, with nephrolithiasis skos:exactMatch MONDO:0025356 semapv:UnspecifiedMatching +OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:16825 semapv:UnspecifiedMatching +OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:MTMR8 semapv:UnspecifiedMatching +OMIM:301061 MTMR8 skos:exactMatch ncbigene:55613 semapv:UnspecifiedMatching +OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:33139 semapv:UnspecifiedMatching +OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:MIR766 semapv:UnspecifiedMatching +OMIM:301062 MIR766 skos:exactMatch ncbigene:768218 semapv:UnspecifiedMatching +OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:30930 semapv:UnspecifiedMatching +OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:XAGE5 semapv:UnspecifiedMatching +OMIM:301063 XAGE5 skos:exactMatch ncbigene:170627 semapv:UnspecifiedMatching +OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:28515 semapv:UnspecifiedMatching +OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:MAGEB18 semapv:UnspecifiedMatching +OMIM:301064 MAGEB18 skos:exactMatch ncbigene:286514 semapv:UnspecifiedMatching +OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:18283 semapv:UnspecifiedMatching +OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:RAB40A semapv:UnspecifiedMatching +OMIM:301065 RAB40A skos:exactMatch ncbigene:142684 semapv:UnspecifiedMatching +OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch MONDO:0859080 semapv:UnspecifiedMatching +OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:25301 semapv:UnspecifiedMatching +OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:FAM47C semapv:UnspecifiedMatching +OMIM:301067 FAM47C skos:exactMatch ncbigene:442444 semapv:UnspecifiedMatching +OMIM:301068 hardikar syndrome skos:exactMatch MONDO:0012997 semapv:UnspecifiedMatching +OMIM:301069 chromosome xq13 duplication syndrome skos:exactMatch MONDO:0859081 semapv:UnspecifiedMatching +OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:30512 semapv:UnspecifiedMatching +OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:WDR44 semapv:UnspecifiedMatching +OMIM:301070 WDR44 skos:exactMatch ncbigene:54521 semapv:UnspecifiedMatching +OMIM:301071 thrombophilia, x-linked, due to factor 8 defect skos:exactMatch MONDO:0859082 semapv:UnspecifiedMatching +OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis skos:exactMatch MONDO:0018346 semapv:UnspecifiedMatching +OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:808 semapv:UnspecifiedMatching +OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:ATP1B4 semapv:UnspecifiedMatching +OMIM:301073 ATP1B4 skos:exactMatch ncbigene:23439 semapv:UnspecifiedMatching +OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 skos:exactMatch MONDO:0024770 semapv:UnspecifiedMatching +OMIM:301075 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch MONDO:0024771 semapv:UnspecifiedMatching +OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge iia skos:exactMatch MONDO:0024772 semapv:UnspecifiedMatching +OMIM:301077 spermatogenic failure, x-linked, 4 skos:exactMatch MONDO:0024773 semapv:UnspecifiedMatching +OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch MONDO:0024777 semapv:UnspecifiedMatching +OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:20083 semapv:UnspecifiedMatching +OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:DDX53 semapv:UnspecifiedMatching +OMIM:301079 DDX53 skos:exactMatch ncbigene:168400 semapv:UnspecifiedMatching +OMIM:301080 systemic lupus erythematosus 17 skos:exactMatch MONDO:0859083 semapv:UnspecifiedMatching +OMIM:301081 autoinflammatory disease, systemic, X-linked skos:exactMatch MONDO:0800129 semapv:UnspecifiedMatching +OMIM:301082 immunodeficiency 102 skos:exactMatch MONDO:0024781 semapv:UnspecifiedMatching +OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to skos:exactMatch MONDO:0020458 semapv:UnspecifiedMatching +OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:28277 semapv:UnspecifiedMatching +OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:TCEANC semapv:UnspecifiedMatching +OMIM:301084 TCEANC skos:exactMatch ncbigene:170082 semapv:UnspecifiedMatching +OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:18992 semapv:UnspecifiedMatching +OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:ADGRG4 semapv:UnspecifiedMatching +OMIM:301085 ADGRG4 skos:exactMatch ncbigene:139378 semapv:UnspecifiedMatching +OMIM:301086 MOSPD2 skos:exactMatch hgnc.symbol:28381 semapv:UnspecifiedMatching +OMIM:301086 MOSPD2 skos:exactMatch hgnc.symbol:MOSPD2 semapv:UnspecifiedMatching +OMIM:301086 MOSPD2 skos:exactMatch ncbigene:158747 semapv:UnspecifiedMatching +OMIM:301087 FGF13AS1 skos:exactMatch hgnc.symbol:44264 semapv:UnspecifiedMatching +OMIM:301087 FGF13AS1 skos:exactMatch hgnc.symbol:FGF13-AS1 semapv:UnspecifiedMatching +OMIM:301087 FGF13AS1 skos:exactMatch ncbigene:100129662 semapv:UnspecifiedMatching +OMIM:301088 CMC4 skos:exactMatch hgnc.symbol:35428 semapv:UnspecifiedMatching +OMIM:301088 CMC4 skos:exactMatch hgnc.symbol:CMC4 semapv:UnspecifiedMatching +OMIM:301088 CMC4 skos:exactMatch ncbigene:100272147 semapv:UnspecifiedMatching +OMIM:301089 WWC3 skos:exactMatch hgnc.symbol:29237 semapv:UnspecifiedMatching +OMIM:301089 WWC3 skos:exactMatch hgnc.symbol:WWC3 semapv:UnspecifiedMatching +OMIM:301089 WWC3 skos:exactMatch ncbigene:55841 semapv:UnspecifiedMatching +OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features skos:exactMatch MONDO:0859564 semapv:UnspecifiedMatching +OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:31644 semapv:UnspecifiedMatching +OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:MIR92A2 semapv:UnspecifiedMatching +OMIM:301092 MIR92A2 skos:exactMatch ncbigene:407049 semapv:UnspecifiedMatching +OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:33737 semapv:UnspecifiedMatching +OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:NHSL2 semapv:UnspecifiedMatching +OMIM:301093 NHSL2 skos:exactMatch ncbigene:340527 semapv:UnspecifiedMatching +OMIM:301094 hijazi-reis syndrome skos:exactMatch MONDO:0859085 semapv:UnspecifiedMatching +OMIM:301095 intellectual developmental disorder, X-linked 110 skos:exactMatch MONDO:0859086 semapv:UnspecifiedMatching +OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:16847 semapv:UnspecifiedMatching +OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:CSAG2 semapv:UnspecifiedMatching +OMIM:301096 CSAG2 skos:exactMatch ncbigene:102723547 semapv:UnspecifiedMatching +OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:26237 semapv:UnspecifiedMatching +OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:CSAG3 semapv:UnspecifiedMatching +OMIM:301097 CSAG3 skos:exactMatch ncbigene:389903 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:28100 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:MMGT1 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch ncbigene:93380 semapv:UnspecifiedMatching +OMIM:301099 spermatogenic failure, x-linked, 5 skos:exactMatch MONDO:0859477 semapv:UnspecifiedMatching +OMIM:301101 spermatogenic failure, x-linked, 6 skos:exactMatch MONDO:0859478 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:28601 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:TMEM31 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch ncbigene:203562 semapv:UnspecifiedMatching +OMIM:301103 MPC1L skos:exactMatch hgnc.symbol:44205 semapv:UnspecifiedMatching +OMIM:301103 MPC1L skos:exactMatch hgnc.symbol:MPC1L semapv:UnspecifiedMatching +OMIM:301103 MPC1L skos:exactMatch ncbigene:347411 semapv:UnspecifiedMatching +OMIM:301104 PPP1R3F skos:exactMatch hgnc.symbol:14944 semapv:UnspecifiedMatching +OMIM:301104 PPP1R3F skos:exactMatch hgnc.symbol:PPP1R3F semapv:UnspecifiedMatching +OMIM:301104 PPP1R3F skos:exactMatch ncbigene:89801 semapv:UnspecifiedMatching +OMIM:301105 CT55 skos:exactMatch hgnc.symbol:26047 semapv:UnspecifiedMatching +OMIM:301105 CT55 skos:exactMatch hgnc.symbol:CT55 semapv:UnspecifiedMatching +OMIM:301105 CT55 skos:exactMatch ncbigene:54967 semapv:UnspecifiedMatching +OMIM:301106 spermatogenic failure, x-linked, 7 skos:exactMatch MONDO:0957202 semapv:UnspecifiedMatching +OMIM:301107 intellectual developmental disorder, X-linked 111 skos:exactMatch MONDO:0957203 semapv:UnspecifiedMatching +OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch MONDO:0958178 semapv:UnspecifiedMatching +OMIM:301109 autoinflammatory disease, multisystem, with immune dysregulation, X-linked skos:exactMatch MONDO:0957494 semapv:UnspecifiedMatching +OMIM:301110 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature skos:exactMatch MONDO:0957495 semapv:UnspecifiedMatching +OMIM:301111 intellectual developmental disorder, X-linked 112 skos:exactMatch MONDO:0957496 semapv:UnspecifiedMatching +OMIM:301112 GLOD5 skos:exactMatch hgnc.symbol:33358 semapv:UnspecifiedMatching +OMIM:301112 GLOD5 skos:exactMatch hgnc.symbol:GLOD5 semapv:UnspecifiedMatching +OMIM:301112 GLOD5 skos:exactMatch ncbigene:392465 semapv:UnspecifiedMatching +OMIM:301113 SPIN4 skos:exactMatch hgnc.symbol:27040 semapv:UnspecifiedMatching +OMIM:301113 SPIN4 skos:exactMatch hgnc.symbol:SPIN4 semapv:UnspecifiedMatching +OMIM:301113 SPIN4 skos:exactMatch ncbigene:139886 semapv:UnspecifiedMatching +OMIM:301114 lui-jee-baron syndrome skos:exactMatch MONDO:0957919 semapv:UnspecifiedMatching +OMIM:301115 immunodeficiency 118 skos:exactMatch MONDO:0958030 semapv:UnspecifiedMatching +OMIM:301200 amelogenesis imperfecta, iia 1e skos:exactMatch MONDO:0010521 semapv:UnspecifiedMatching +OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch MONDO:0010522 semapv:UnspecifiedMatching +OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked skos:exactMatch MONDO:0010523 semapv:UnspecifiedMatching +OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:397 semapv:UnspecifiedMatching +OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:ALAS2 semapv:UnspecifiedMatching +OMIM:301300 ALAS2 skos:exactMatch ncbigene:212 semapv:UnspecifiedMatching +OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia skos:exactMatch MONDO:0010524 semapv:UnspecifiedMatching +OMIM:301410 neural tube defects, X-linked skos:exactMatch MONDO:0010525 semapv:UnspecifiedMatching +OMIM:301500 fabry disease skos:exactMatch MONDO:0010526 semapv:UnspecifiedMatching +OMIM:301500 fabry disease skos:exactMatch Orphanet:324 semapv:UnspecifiedMatching +OMIM:301500 fabry disease skos:exactMatch UMLS:C0002986 semapv:UnspecifiedMatching +OMIM:301590 skos:exactMatch MONDO:0010527 semapv:UnspecifiedMatching +OMIM:301700 anosmia, isolated congenital, X-linked skos:exactMatch MONDO:0100469 semapv:UnspecifiedMatching +OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:710 semapv:UnspecifiedMatching +OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:ARR3 semapv:UnspecifiedMatching +OMIM:301770 ARR3 skos:exactMatch ncbigene:407 semapv:UnspecifiedMatching +OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:716 semapv:UnspecifiedMatching +OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:ARSC2 semapv:UnspecifiedMatching +OMIM:301780 ARSC2 skos:exactMatch ncbigene:413 semapv:UnspecifiedMatching +OMIM:301790 spinocerebellar ataxia, X-linked 3 skos:exactMatch MONDO:0010529 semapv:UnspecifiedMatching +OMIM:301800 anus, imperforate skos:exactMatch MONDO:0001046 semapv:UnspecifiedMatching +OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay skos:exactMatch MONDO:0010531 semapv:UnspecifiedMatching +OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch MONDO:0010532 semapv:UnspecifiedMatching +OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching +OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching +OMIM:301835 arts syndrome skos:exactMatch MONDO:0010533 semapv:UnspecifiedMatching +OMIM:301840 spinocerebellar ataxia, X-linked 4 skos:exactMatch MONDO:0010534 semapv:UnspecifiedMatching +OMIM:301845 bazex-dupre-christol syndrome skos:exactMatch MONDO:0010535 semapv:UnspecifiedMatching +OMIM:301850 tubulin, beta skos:exactMatch MONDO:0010536 semapv:UnspecifiedMatching +OMIM:301870 BGN skos:exactMatch hgnc.symbol:1044 semapv:UnspecifiedMatching +OMIM:301870 BGN skos:exactMatch hgnc.symbol:BGN semapv:UnspecifiedMatching +OMIM:301870 BGN skos:exactMatch ncbigene:633 semapv:UnspecifiedMatching +OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch MONDO:0010537 semapv:UnspecifiedMatching +OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch Orphanet:127 semapv:UnspecifiedMatching +OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch UMLS:C0265339 semapv:UnspecifiedMatching +OMIM:301940 brachydactyly, mononen iia skos:exactMatch MONDO:0010538 semapv:UnspecifiedMatching +OMIM:301950 branchial arch syndrome, X-linked skos:exactMatch MONDO:0010539 semapv:UnspecifiedMatching +OMIM:302000 bullous dystrophy, hereditary macular iia skos:exactMatch MONDO:0010540 semapv:UnspecifiedMatching +OMIM:302020 S100G skos:exactMatch hgnc.symbol:1436 semapv:UnspecifiedMatching +OMIM:302020 S100G skos:exactMatch hgnc.symbol:S100G semapv:UnspecifiedMatching +OMIM:302020 S100G skos:exactMatch ncbigene:795 semapv:UnspecifiedMatching +OMIM:302030 calvarial hyperostosis skos:exactMatch MONDO:0010541 semapv:UnspecifiedMatching +OMIM:302045 cardiomyopathy, dilated, 3b skos:exactMatch MONDO:0010542 semapv:UnspecifiedMatching +OMIM:302060 barth syndrome skos:exactMatch MONDO:0010543 semapv:UnspecifiedMatching +OMIM:302200 cataract 40 skos:exactMatch MONDO:0010544 semapv:UnspecifiedMatching +OMIM:302350 nance-horan syndrome skos:exactMatch MONDO:0010545 semapv:UnspecifiedMatching +OMIM:302350 nance-horan syndrome skos:exactMatch Orphanet:627 semapv:UnspecifiedMatching +OMIM:302350 nance-horan syndrome skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching +OMIM:302400 central incisors, absence of skos:exactMatch MONDO:0010546 semapv:UnspecifiedMatching +OMIM:302500 spinocerebellar ataxia, X-linked 1 skos:exactMatch MONDO:0010547 semapv:UnspecifiedMatching +OMIM:302600 spinocerebellar ataxia, X-linked 2 skos:exactMatch MONDO:0010548 semapv:UnspecifiedMatching +OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:1798 semapv:UnspecifiedMatching +OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:CDR1 semapv:UnspecifiedMatching +OMIM:302650 CDR1 skos:exactMatch ncbigene:1038 semapv:UnspecifiedMatching +OMIM:302700 cerebral sclerosis, diffuse, scholz iia skos:exactMatch MONDO:0060456 semapv:UnspecifiedMatching +OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 skos:exactMatch MONDO:0010549 semapv:UnspecifiedMatching +OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 skos:exactMatch MONDO:0010550 semapv:UnspecifiedMatching +OMIM:302802 charcot-marie-tooth disease, X-linked recessive, 3 skos:exactMatch MONDO:0010551 semapv:UnspecifiedMatching +OMIM:302803 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita skos:exactMatch MONDO:0010552 semapv:UnspecifiedMatching +OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined skos:exactMatch MONDO:0010553 semapv:UnspecifiedMatching +OMIM:302905 abruzzo-erickson syndrome skos:exactMatch MONDO:0010554 semapv:UnspecifiedMatching +OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:2022 semapv:UnspecifiedMatching +OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:CLCN4 semapv:UnspecifiedMatching +OMIM:302910 CLCN4 skos:exactMatch ncbigene:1183 semapv:UnspecifiedMatching +OMIM:302950 chondrodysplasia punctata 1, X-linked recessive skos:exactMatch MONDO:0010555 semapv:UnspecifiedMatching +OMIM:302960 chondrodysplasia punctata 2, X-linked dominant skos:exactMatch MONDO:0020603 semapv:UnspecifiedMatching +OMIM:303100 choroideremia skos:exactMatch MONDO:0010557 semapv:UnspecifiedMatching +OMIM:303110 chromosome xq21 deletion syndrome skos:exactMatch MONDO:0010558 semapv:UnspecifiedMatching +OMIM:303350 masa syndrome skos:exactMatch MONDO:0010559 semapv:UnspecifiedMatching +OMIM:303400 cleft palate with or without ankyloglossia, X-linked skos:exactMatch MONDO:0010560 semapv:UnspecifiedMatching +OMIM:303600 coffin-lowry syndrome skos:exactMatch MONDO:0010561 semapv:UnspecifiedMatching +OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:2207 semapv:UnspecifiedMatching +OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:COL4A5 semapv:UnspecifiedMatching +OMIM:303630 COL4A5 skos:exactMatch ncbigene:1287 semapv:UnspecifiedMatching +OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:2208 semapv:UnspecifiedMatching +OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:COL4A6 semapv:UnspecifiedMatching +OMIM:303631 COL4A6 skos:exactMatch ncbigene:1288 semapv:UnspecifiedMatching +OMIM:303650 colonic atresia skos:exactMatch MONDO:0010562 semapv:UnspecifiedMatching +OMIM:303700 blue cone monochromacy skos:exactMatch MONDO:0010563 semapv:UnspecifiedMatching +OMIM:303800 colorblindness, partial, deutan series skos:exactMatch MONDO:0010564 semapv:UnspecifiedMatching +OMIM:303900 colorblindness, partial, protan series skos:exactMatch MONDO:0010565 semapv:UnspecifiedMatching +OMIM:304020 cone-rod dystrophy, x-linked, 1 skos:exactMatch MONDO:0010566 semapv:UnspecifiedMatching +OMIM:304030 cone dystrophy, x-linked, with tapetal-like sheen skos:exactMatch MONDO:0010567 semapv:UnspecifiedMatching +OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:4283 semapv:UnspecifiedMatching +OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:GJB1 semapv:UnspecifiedMatching +OMIM:304040 GJB1 skos:exactMatch ncbigene:2705 semapv:UnspecifiedMatching +OMIM:304050 aicardi syndrome skos:exactMatch MONDO:0010568 semapv:UnspecifiedMatching +OMIM:304100 corpus callosum, partial agenesis of, X-linked skos:exactMatch MONDO:0010569 semapv:UnspecifiedMatching +OMIM:304110 craniofrontonasal syndrome skos:exactMatch MONDO:0010570 semapv:UnspecifiedMatching +OMIM:304120 otopalatodigital syndrome, iia 2 skos:exactMatch MONDO:0010571 semapv:UnspecifiedMatching +OMIM:304150 occipital horn syndrome skos:exactMatch MONDO:0010572 semapv:UnspecifiedMatching +OMIM:304200 cutis verticis gyrata, thyroid aplasia, and mental retardation skos:exactMatch MONDO:0010573 semapv:UnspecifiedMatching +OMIM:304300 cyanide, inability to smell skos:exactMatch MONDO:0044262 semapv:UnspecifiedMatching +OMIM:304340 pettigrew syndrome skos:exactMatch MONDO:0010574 semapv:UnspecifiedMatching +OMIM:304350 deafness-hypogonadism syndrome skos:exactMatch MONDO:0010575 semapv:UnspecifiedMatching +OMIM:304400 deafness, X-linked 2 skos:exactMatch MONDO:0010576 semapv:UnspecifiedMatching +OMIM:304500 deafness, X-linked 1 skos:exactMatch MONDO:0010577 semapv:UnspecifiedMatching +OMIM:304700 mohr-tranebjaerg syndrome skos:exactMatch MONDO:0010578 semapv:UnspecifiedMatching +OMIM:304730 dermoids of cornea skos:exactMatch MONDO:0010579 semapv:UnspecifiedMatching +OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked skos:exactMatch MONDO:0010580 semapv:UnspecifiedMatching +OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked skos:exactMatch MONDO:0010581 semapv:UnspecifiedMatching +OMIM:304900 diabetes insipidus, neurohypophyseal, X-linked skos:exactMatch MONDO:0010582 semapv:UnspecifiedMatching +OMIM:304950 dyggve-melchior-clausen syndrome, X-linked skos:exactMatch MONDO:0010583 semapv:UnspecifiedMatching +OMIM:305000 dyskeratosis congenita, X-linked skos:exactMatch MONDO:0010584 semapv:UnspecifiedMatching +OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked skos:exactMatch MONDO:0010585 semapv:UnspecifiedMatching +OMIM:305350 epidermodysplasia verruciformis, X-linked skos:exactMatch MONDO:0010587 semapv:UnspecifiedMatching +OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:7219 semapv:UnspecifiedMatching +OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:MPP1 semapv:UnspecifiedMatching +OMIM:305360 MPP1 skos:exactMatch ncbigene:4354 semapv:UnspecifiedMatching +OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:11820 semapv:UnspecifiedMatching +OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:TIMP1 semapv:UnspecifiedMatching +OMIM:305370 TIMP1 skos:exactMatch ncbigene:7076 semapv:UnspecifiedMatching +OMIM:305371 GATA1 skos:exactMatch hgnc.symbol:4170 semapv:UnspecifiedMatching +OMIM:305371 GATA1 skos:exactMatch hgnc.symbol:GATA1 semapv:UnspecifiedMatching +OMIM:305371 GATA1 skos:exactMatch ncbigene:2623 semapv:UnspecifiedMatching +OMIM:305390 exudative vitreoretinopathy 2, X-linked skos:exactMatch MONDO:0010588 semapv:UnspecifiedMatching +OMIM:305400 aarskog-scott syndrome skos:exactMatch MONDO:0010589 semapv:UnspecifiedMatching +OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:3547 semapv:UnspecifiedMatching +OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:F8A1 semapv:UnspecifiedMatching +OMIM:305423 F8A1 skos:exactMatch ncbigene:8263 semapv:UnspecifiedMatching +OMIM:305450 opitz-kaveggia syndrome skos:exactMatch MONDO:0010590 semapv:UnspecifiedMatching +OMIM:305550 fingerprint body myopathy skos:exactMatch MONDO:0010591 semapv:UnspecifiedMatching +OMIM:305600 focal dermal hypoplasia skos:exactMatch MONDO:0010592 semapv:UnspecifiedMatching +OMIM:305600 focal dermal hypoplasia skos:exactMatch Orphanet:2092 semapv:UnspecifiedMatching +OMIM:305600 focal dermal hypoplasia skos:exactMatch UMLS:C0016395 semapv:UnspecifiedMatching +OMIM:305620 frontometaphyseal dysplasia 1 skos:exactMatch MONDO:0024550 semapv:UnspecifiedMatching +OMIM:305660 GABRA3 skos:exactMatch hgnc.symbol:4077 semapv:UnspecifiedMatching +OMIM:305660 GABRA3 skos:exactMatch hgnc.symbol:GABRA3 semapv:UnspecifiedMatching +OMIM:305660 GABRA3 skos:exactMatch ncbigene:2556 semapv:UnspecifiedMatching +OMIM:305670 GRPR skos:exactMatch hgnc.symbol:4609 semapv:UnspecifiedMatching +OMIM:305670 GRPR skos:exactMatch hgnc.symbol:GRPR semapv:UnspecifiedMatching +OMIM:305670 GRPR skos:exactMatch ncbigene:2925 semapv:UnspecifiedMatching +OMIM:305690 genitourinary tract anomalies skos:exactMatch MONDO:0010594 semapv:UnspecifiedMatching +OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch MONDO:0056795 semapv:UnspecifiedMatching +OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching +OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch UMLS:C1384583 semapv:UnspecifiedMatching +OMIM:305800 membranoproliferative glomerulonephritis, X-linked skos:exactMatch MONDO:0010596 semapv:UnspecifiedMatching +OMIM:305900 G6PD skos:exactMatch hgnc.symbol:4057 semapv:UnspecifiedMatching +OMIM:305900 G6PD skos:exactMatch hgnc.symbol:G6PD semapv:UnspecifiedMatching +OMIM:305900 G6PD skos:exactMatch ncbigene:2539 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch UMLS:C1333710 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch UMLS:C5436947 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:4573 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:GRIA3 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch ncbigene:2892 semapv:UnspecifiedMatching +OMIM:305920 glutamyl ribose-5-phosphate storage disease skos:exactMatch MONDO:0010597 semapv:UnspecifiedMatching +OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:4327 semapv:UnspecifiedMatching +OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:GLRA2 semapv:UnspecifiedMatching +OMIM:305990 GLRA2 skos:exactMatch ncbigene:2742 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch MONDO:0010598 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C1844412 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C2748941 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C3694531 semapv:UnspecifiedMatching +OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching +OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching +OMIM:306250 CSF2RA skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching +OMIM:306300 granulomas, congenital cerebral skos:exactMatch MONDO:0010599 semapv:UnspecifiedMatching +OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch MONDO:0010600 semapv:UnspecifiedMatching +OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching +OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:16818 semapv:UnspecifiedMatching +OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:PUDP semapv:UnspecifiedMatching +OMIM:306480 HDHD1A skos:exactMatch ncbigene:8226 semapv:UnspecifiedMatching +OMIM:306500 skos:exactMatch MONDO:0010601 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch MONDO:0010602 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:169802 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:169805 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:169808 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching +OMIM:306800 hemophilia a with vascular abnormality skos:exactMatch MONDO:0010603 semapv:UnspecifiedMatching +OMIM:306900 hemophilia B skos:exactMatch MONDO:0010604 semapv:UnspecifiedMatching +OMIM:306930 hemopoietic proliferation skos:exactMatch MONDO:0010605 semapv:UnspecifiedMatching +OMIM:306950 diaphragmatic hernia 5, X-linked skos:exactMatch MONDO:0010606 semapv:UnspecifiedMatching +OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch MONDO:0010607 semapv:UnspecifiedMatching +OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching +OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching +OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching +OMIM:306960 hhhh syndrome skos:exactMatch MONDO:0010608 semapv:UnspecifiedMatching +OMIM:306980 hirschsprung disease with iia d brachydactyly skos:exactMatch MONDO:0016294 semapv:UnspecifiedMatching +OMIM:306990 microhydranencephaly, X-linked skos:exactMatch MONDO:0010610 semapv:UnspecifiedMatching +OMIM:306995 homosexuality 1 skos:exactMatch MONDO:0026856 semapv:UnspecifiedMatching +OMIM:307000 hydrocephalus, congenital, X-linked skos:exactMatch MONDO:0010611 semapv:UnspecifiedMatching +OMIM:307010 hydrocephalus with cerebellar agenesis skos:exactMatch MONDO:0010612 semapv:UnspecifiedMatching +OMIM:307030 glycerol kinase deficiency skos:exactMatch MONDO:0010613 semapv:UnspecifiedMatching +OMIM:307150 hypertrichosis, congenital generalized skos:exactMatch MONDO:0010614 semapv:UnspecifiedMatching +OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia skos:exactMatch MONDO:0010615 semapv:UnspecifiedMatching +OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies skos:exactMatch MONDO:0010617 semapv:UnspecifiedMatching +OMIM:307700 hypoparathyroidism, X-linked skos:exactMatch MONDO:0010618 semapv:UnspecifiedMatching +OMIM:307800 hypophosphatemic rickets, X-linked dominant skos:exactMatch MONDO:0010619 semapv:UnspecifiedMatching +OMIM:307830 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch MONDO:0010620 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C1415701 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C1845892 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017591 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017592 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017593 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017594 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017595 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017596 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017597 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017598 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017599 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017600 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017601 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017602 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017603 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017604 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017605 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017606 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4017796 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310993 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310994 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310995 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310996 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310997 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310998 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4310999 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311000 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311001 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311002 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311003 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311004 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311005 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:5157 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:HPRT1 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch ncbigene:3251 semapv:UnspecifiedMatching +OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch MONDO:0010621 semapv:UnspecifiedMatching +OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch Orphanet:139 semapv:UnspecifiedMatching +OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching +OMIM:308100 ichthyosis, X-linked skos:exactMatch MONDO:0010622 semapv:UnspecifiedMatching +OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch MONDO:0010623 semapv:UnspecifiedMatching +OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch Orphanet:431 semapv:UnspecifiedMatching +OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch MONDO:0100213 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:85284 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching +OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein skos:exactMatch MONDO:0010625 semapv:UnspecifiedMatching +OMIM:308230 immunodeficiency with hyper-igm, iia 1 skos:exactMatch MONDO:0010626 semapv:UnspecifiedMatching +OMIM:308240 lymphoproliferative syndrome, x-linked, 1 skos:exactMatch MONDO:0024551 semapv:UnspecifiedMatching +OMIM:308250 immunoglobulin m, level of skos:exactMatch MONDO:0010628 semapv:UnspecifiedMatching +OMIM:308280 impacted teeth, multiple skos:exactMatch MONDO:0010629 semapv:UnspecifiedMatching +OMIM:308290 imprinting gene related to retinoblastoma skos:exactMatch MONDO:0010630 semapv:UnspecifiedMatching +OMIM:308300 incontinentia pigmenti skos:exactMatch MONDO:0010631 semapv:UnspecifiedMatching +OMIM:308300 incontinentia pigmenti skos:exactMatch Orphanet:464 semapv:UnspecifiedMatching +OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching +OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C2930820 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch MONDO:0010632 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C4552072 semapv:UnspecifiedMatching +OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:6010 semapv:UnspecifiedMatching +OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:IL2RG semapv:UnspecifiedMatching +OMIM:308380 IL2RG skos:exactMatch ncbigene:3561 semapv:UnspecifiedMatching +OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching +OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching +OMIM:308385 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching +OMIM:308500 iris hypoplasia with glaucoma skos:exactMatch MONDO:0010633 semapv:UnspecifiedMatching +OMIM:308600 jaundice, familial obstructive, of infancy skos:exactMatch MONDO:0010634 semapv:UnspecifiedMatching +OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch MONDO:0010635 semapv:UnspecifiedMatching +OMIM:308750 kallmann syndrome with spastic paraplegia skos:exactMatch MONDO:0010636 semapv:UnspecifiedMatching +OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch MONDO:0010637 semapv:UnspecifiedMatching +OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy skos:exactMatch MONDO:0010638 semapv:UnspecifiedMatching +OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:6470 semapv:UnspecifiedMatching +OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:L1CAM semapv:UnspecifiedMatching +OMIM:308840 L1CAM skos:exactMatch ncbigene:3897 semapv:UnspecifiedMatching +OMIM:308850 laryngeal abductor paralysis skos:exactMatch MONDO:0010639 semapv:UnspecifiedMatching +OMIM:308905 leber hereditary optic neuropathy, modifier of skos:exactMatch MONDO:0010640 semapv:UnspecifiedMatching +OMIM:308940 leiomyomatosis, diffuse, with alport syndrome skos:exactMatch MONDO:0010641 semapv:UnspecifiedMatching +OMIM:308950 lesch-nyhan phenotype with normal hgprt skos:exactMatch MONDO:0010642 semapv:UnspecifiedMatching +OMIM:308960 leukemia, acute, X-linked skos:exactMatch MONDO:0700060 semapv:UnspecifiedMatching +OMIM:308960 leukemia, acute, X-linked skos:exactMatch UMLS:C3501854 semapv:UnspecifiedMatching +OMIM:308990 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch MONDO:0010644 semapv:UnspecifiedMatching +OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch MONDO:0010645 semapv:UnspecifiedMatching +OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching +OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching +OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C2713392 semapv:UnspecifiedMatching +OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:6501 semapv:UnspecifiedMatching +OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:LAMP2 semapv:UnspecifiedMatching +OMIM:309060 LAMP2 skos:exactMatch ncbigene:3920 semapv:UnspecifiedMatching +OMIM:309100 macular dystrophy, X-linked skos:exactMatch MONDO:0010646 semapv:UnspecifiedMatching +OMIM:309120 spermatogenic failure, x-linked, 2 skos:exactMatch MONDO:0010647 semapv:UnspecifiedMatching +OMIM:309200 major affective disorder 2 skos:exactMatch MONDO:0010648 semapv:UnspecifiedMatching +OMIM:309300 megalocornea skos:exactMatch MONDO:0010649 semapv:UnspecifiedMatching +OMIM:309350 melnick-needles syndrome skos:exactMatch MONDO:0010650 semapv:UnspecifiedMatching +OMIM:309400 menkes disease skos:exactMatch MONDO:0010651 semapv:UnspecifiedMatching +OMIM:309400 menkes disease skos:exactMatch Orphanet:565 semapv:UnspecifiedMatching +OMIM:309400 menkes disease skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching +OMIM:309480 mental retardation and psoriasis skos:exactMatch MONDO:0010652 semapv:UnspecifiedMatching +OMIM:309500 renpenning syndrome 1 skos:exactMatch MONDO:0010653 semapv:UnspecifiedMatching +OMIM:309510 partington syndrome skos:exactMatch MONDO:0010654 semapv:UnspecifiedMatching +OMIM:309510 partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching +OMIM:309510 partington syndrome skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching +OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch MONDO:0010655 semapv:UnspecifiedMatching +OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching +OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching +OMIM:309530 intellectual developmental disorder, X-linked 1 skos:exactMatch MONDO:0010656 semapv:UnspecifiedMatching +OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia skos:exactMatch MONDO:0010657 semapv:UnspecifiedMatching +OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 skos:exactMatch MONDO:0010658 semapv:UnspecifiedMatching +OMIM:309548 intellectual developmental disorder, X-linked 109 skos:exactMatch MONDO:0010659 semapv:UnspecifiedMatching +OMIM:309549 intellectual developmental disorder, X-linked 9 skos:exactMatch MONDO:0010660 semapv:UnspecifiedMatching +OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:3775 semapv:UnspecifiedMatching +OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:FMR1 semapv:UnspecifiedMatching +OMIM:309550 FMR1 skos:exactMatch ncbigene:2332 semapv:UnspecifiedMatching +OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson iia skos:exactMatch MONDO:0010661 semapv:UnspecifiedMatching +OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis skos:exactMatch MONDO:0010662 semapv:UnspecifiedMatching +OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 skos:exactMatch MONDO:0010663 semapv:UnspecifiedMatching +OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia skos:exactMatch MONDO:0010664 semapv:UnspecifiedMatching +OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner iia skos:exactMatch MONDO:0010665 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch MONDO:0010407 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:85328 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C0796003 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C0796272 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching +OMIM:309605 skos:exactMatch MONDO:0010666 semapv:UnspecifiedMatching +OMIM:309610 prieto syndrome skos:exactMatch MONDO:0010667 semapv:UnspecifiedMatching +OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy skos:exactMatch MONDO:0010668 semapv:UnspecifiedMatching +OMIM:309630 metacarpal 4-5 fusion skos:exactMatch MONDO:0010669 semapv:UnspecifiedMatching +OMIM:309640 mental retardation with spastic paraplegia skos:exactMatch MONDO:0010670 semapv:UnspecifiedMatching +OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch MONDO:0010671 semapv:UnspecifiedMatching +OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching +OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching +OMIM:309801 linear skin defects with multiple congenital anomalies 1 skos:exactMatch MONDO:0024552 semapv:UnspecifiedMatching +OMIM:309840 modifier, x-linked, for neurofunctional defects skos:exactMatch MONDO:0010673 semapv:UnspecifiedMatching +OMIM:309845 MSN skos:exactMatch hgnc.symbol:7373 semapv:UnspecifiedMatching +OMIM:309845 MSN skos:exactMatch hgnc.symbol:MSN semapv:UnspecifiedMatching +OMIM:309845 MSN skos:exactMatch ncbigene:4478 semapv:UnspecifiedMatching +OMIM:309850 MAOA skos:exactMatch hgnc.symbol:6833 semapv:UnspecifiedMatching +OMIM:309850 MAOA skos:exactMatch hgnc.symbol:MAOA semapv:UnspecifiedMatching +OMIM:309850 MAOA skos:exactMatch ncbigene:4128 semapv:UnspecifiedMatching +OMIM:309860 MAOB skos:exactMatch hgnc.symbol:6834 semapv:UnspecifiedMatching +OMIM:309860 MAOB skos:exactMatch hgnc.symbol:MAOB semapv:UnspecifiedMatching +OMIM:309860 MAOB skos:exactMatch ncbigene:4129 semapv:UnspecifiedMatching +OMIM:309900 mucopolysaccharidosis, iia 2 skos:exactMatch MONDO:0010674 semapv:UnspecifiedMatching +OMIM:309930 muscular dystrophy, cardiac iia skos:exactMatch MONDO:0010675 semapv:UnspecifiedMatching +OMIM:309950 muscular dystrophy, hemizygous lethal iia skos:exactMatch MONDO:0010676 semapv:UnspecifiedMatching +OMIM:309950 muscular dystrophy, hemizygous lethal iia skos:exactMatch UMLS:C1839671 semapv:UnspecifiedMatching +OMIM:310000 muscular dystrophy, mabry iia skos:exactMatch MONDO:0010677 semapv:UnspecifiedMatching +OMIM:310095 muscular dystrophy, progressive pectorodorsal skos:exactMatch MONDO:0010678 semapv:UnspecifiedMatching +OMIM:310200 muscular dystrophy, duchenne iia skos:exactMatch MONDO:0010679 semapv:UnspecifiedMatching +OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked skos:exactMatch MONDO:0100531 semapv:UnspecifiedMatching +OMIM:310310 MYCL2 skos:exactMatch hgnc.symbol:7556 semapv:UnspecifiedMatching +OMIM:310310 MYCL2 skos:exactMatch hgnc.symbol:MYCLP1 semapv:UnspecifiedMatching +OMIM:310310 MYCL2 skos:exactMatch ncbigene:4611 semapv:UnspecifiedMatching +OMIM:310350 myelolymphatic insufficiency skos:exactMatch MONDO:0010681 semapv:UnspecifiedMatching +OMIM:310370 myoclonic epilepsy, progressive skos:exactMatch MONDO:0010682 semapv:UnspecifiedMatching +OMIM:310400 myopathy, centronuclear, X-linked skos:exactMatch MONDO:0010683 semapv:UnspecifiedMatching +OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch MONDO:0010684 semapv:UnspecifiedMatching +OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching +OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch UMLS:C1839615 semapv:UnspecifiedMatching +OMIM:310460 myopia 1, X-linked skos:exactMatch MONDO:0010685 semapv:UnspecifiedMatching +OMIM:310465 n syndrome skos:exactMatch MONDO:0010686 semapv:UnspecifiedMatching +OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch MONDO:0010687 semapv:UnspecifiedMatching +OMIM:310470 neuropathy, hereditary sensory, X-linked skos:exactMatch MONDO:0010688 semapv:UnspecifiedMatching +OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch MONDO:0010689 semapv:UnspecifiedMatching +OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch Orphanet:101078 semapv:UnspecifiedMatching +OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching +OMIM:310500 night blindness, congenital stationary, iia 1a skos:exactMatch MONDO:0010690 semapv:UnspecifiedMatching +OMIM:310600 norrie disease skos:exactMatch MONDO:0010691 semapv:UnspecifiedMatching +OMIM:310650 nuclear ribonucleic acid skos:exactMatch MONDO:0010692 semapv:UnspecifiedMatching +OMIM:310700 nystagmus 1, congenital, X-linked skos:exactMatch MONDO:0010693 semapv:UnspecifiedMatching +OMIM:310800 nystagmus, myoclonic skos:exactMatch MONDO:0010694 semapv:UnspecifiedMatching +OMIM:310900 occipital hair, white lock of skos:exactMatch MONDO:0010695 semapv:UnspecifiedMatching +OMIM:310980 omphalocele, X-linked skos:exactMatch MONDO:0010696 semapv:UnspecifiedMatching +OMIM:311000 ophthalmoplegia, external, and myopia skos:exactMatch MONDO:0010697 semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch hgnc.symbol:646 semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch hgnc.symbol:ARAF semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch ncbigene:369 semapv:UnspecifiedMatching +OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:6940 semapv:UnspecifiedMatching +OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:MCF2 semapv:UnspecifiedMatching +OMIM:311030 MCF2 skos:exactMatch ncbigene:4168 semapv:UnspecifiedMatching +OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:3321 semapv:UnspecifiedMatching +OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:ELK1 semapv:UnspecifiedMatching +OMIM:311040 ELK1 skos:exactMatch ncbigene:2002 semapv:UnspecifiedMatching +OMIM:311050 optic atrophy 2 skos:exactMatch MONDO:0010698 semapv:UnspecifiedMatching +OMIM:311070 charcot-marie-tooth disease, X-linked recessive, 5 skos:exactMatch MONDO:0010699 semapv:UnspecifiedMatching +OMIM:311100 optic atrophy--spastic paraplegia syndrome skos:exactMatch MONDO:0010700 semapv:UnspecifiedMatching +OMIM:311200 orofaciodigital syndrome 1 skos:exactMatch MONDO:0010702 semapv:UnspecifiedMatching +OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:8092 semapv:UnspecifiedMatching +OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:TBC1D25 semapv:UnspecifiedMatching +OMIM:311240 TBC1D25 skos:exactMatch ncbigene:4943 semapv:UnspecifiedMatching +OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch MONDO:0010703 semapv:UnspecifiedMatching +OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch Orphanet:664 semapv:UnspecifiedMatching +OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching +OMIM:311300 otopalatodigital syndrome, iia 1 skos:exactMatch MONDO:0010704 semapv:UnspecifiedMatching +OMIM:311350 ouabain resistance skos:exactMatch MONDO:0010705 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch MONDO:0010706 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C0085215 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C3494522 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching +OMIM:311400 paine syndrome skos:exactMatch MONDO:0010707 semapv:UnspecifiedMatching +OMIM:311450 pallister w syndrome skos:exactMatch MONDO:0010708 semapv:UnspecifiedMatching +OMIM:311510 waisman syndrome skos:exactMatch MONDO:0010709 semapv:UnspecifiedMatching +OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:8749 semapv:UnspecifiedMatching +OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:CDK16 semapv:UnspecifiedMatching +OMIM:311550 CDK16 skos:exactMatch ncbigene:5127 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch UMLS:C0024790 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch UMLS:C1418558 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch UMLS:C1418559 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch hgnc.symbol:8957 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch hgnc.symbol:PIGA semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch ncbigene:5277 semapv:UnspecifiedMatching +OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:8872 semapv:UnspecifiedMatching +OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:PFKFB1 semapv:UnspecifiedMatching +OMIM:311790 PFKFB1 skos:exactMatch ncbigene:5207 semapv:UnspecifiedMatching +OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:8896 semapv:UnspecifiedMatching +OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:PGK1 semapv:UnspecifiedMatching +OMIM:311800 PGK1 skos:exactMatch ncbigene:5230 semapv:UnspecifiedMatching +OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:9462 semapv:UnspecifiedMatching +OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:PRPS1 semapv:UnspecifiedMatching +OMIM:311850 PRPS1 skos:exactMatch ncbigene:5631 semapv:UnspecifiedMatching +OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:9465 semapv:UnspecifiedMatching +OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:PRPS2 semapv:UnspecifiedMatching +OMIM:311860 PRPS2 skos:exactMatch ncbigene:5634 semapv:UnspecifiedMatching +OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:8925 semapv:UnspecifiedMatching +OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:PHKA1 semapv:UnspecifiedMatching +OMIM:311870 PHKA1 skos:exactMatch ncbigene:5255 semapv:UnspecifiedMatching +OMIM:311895 pierre robin sequence with facial and digital anomalies skos:exactMatch MONDO:0010710 semapv:UnspecifiedMatching +OMIM:311900 tarp syndrome skos:exactMatch MONDO:0010711 semapv:UnspecifiedMatching +OMIM:311900 tarp syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching +OMIM:311900 tarp syndrome skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching +OMIM:312000 panhypopituitarism, X-linked skos:exactMatch MONDO:0010712 semapv:UnspecifiedMatching +OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:9173 semapv:UnspecifiedMatching +OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:POLA1 semapv:UnspecifiedMatching +OMIM:312040 POLA1 skos:exactMatch ncbigene:5422 semapv:UnspecifiedMatching +OMIM:312060 properdin deficiency, X-linked skos:exactMatch MONDO:0010713 semapv:UnspecifiedMatching +OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:12505 semapv:UnspecifiedMatching +OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:UBL4A semapv:UnspecifiedMatching +OMIM:312070 UBL4A skos:exactMatch ncbigene:8266 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch MONDO:0010714 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280210 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching +OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:22979 semapv:UnspecifiedMatching +OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:SLC10A3 semapv:UnspecifiedMatching +OMIM:312090 SLC10A3 skos:exactMatch ncbigene:8273 semapv:UnspecifiedMatching +OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:18783 semapv:UnspecifiedMatching +OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching +OMIM:312095 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching +OMIM:312150 multiple pterygium syndrome, X-linked skos:exactMatch MONDO:0010716 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch MONDO:0010717 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:79243 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0034345 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0751597 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C1839413 semapv:UnspecifiedMatching +OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:10298 semapv:UnspecifiedMatching +OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:RPL10 semapv:UnspecifiedMatching +OMIM:312173 RPL10 skos:exactMatch ncbigene:6134 semapv:UnspecifiedMatching +OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:12472 semapv:UnspecifiedMatching +OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:UBE2A semapv:UnspecifiedMatching +OMIM:312180 UBE2A skos:exactMatch ncbigene:7319 semapv:UnspecifiedMatching +OMIM:312190 radial aplasia, X-linked skos:exactMatch MONDO:0010718 semapv:UnspecifiedMatching +OMIM:312200 radial loop, plain, on right index finger skos:exactMatch MONDO:0044264 semapv:UnspecifiedMatching +OMIM:312210 radiation sensitivity of natural killer activity skos:exactMatch MONDO:0010719 semapv:UnspecifiedMatching +OMIM:312300 androgen insensitivity, partial skos:exactMatch MONDO:0010720 semapv:UnspecifiedMatching +OMIM:312420 RENBP skos:exactMatch hgnc.symbol:9959 semapv:UnspecifiedMatching +OMIM:312420 RENBP skos:exactMatch hgnc.symbol:RENBP semapv:UnspecifiedMatching +OMIM:312420 RENBP skos:exactMatch ncbigene:5973 semapv:UnspecifiedMatching +OMIM:312500 reticuloendotheliosis, X-linked skos:exactMatch MONDO:0010721 semapv:UnspecifiedMatching +OMIM:312550 retinal dysplasia, primary skos:exactMatch MONDO:0010722 semapv:UnspecifiedMatching +OMIM:312600 retinitis pigmentosa 2 skos:exactMatch MONDO:0010723 semapv:UnspecifiedMatching +OMIM:312610 RPGR skos:exactMatch hgnc.symbol:10295 semapv:UnspecifiedMatching +OMIM:312610 RPGR skos:exactMatch hgnc.symbol:RPGR semapv:UnspecifiedMatching +OMIM:312610 RPGR skos:exactMatch ncbigene:6103 semapv:UnspecifiedMatching +OMIM:312612 retinitis pigmentosa 6 skos:exactMatch MONDO:0000910 semapv:UnspecifiedMatching +OMIM:312700 retinoschisis 1, x-linked, juvenile skos:exactMatch MONDO:0010725 semapv:UnspecifiedMatching +OMIM:312750 rett syndrome skos:exactMatch MONDO:0010726 semapv:UnspecifiedMatching +OMIM:312750 rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +OMIM:312750 rett syndrome skos:exactMatch Orphanet:778 semapv:UnspecifiedMatching +OMIM:312750 rett syndrome skos:exactMatch UMLS:C0035372 semapv:UnspecifiedMatching +OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:10424 semapv:UnspecifiedMatching +OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:RPS4X semapv:UnspecifiedMatching +OMIM:312760 RPS4X skos:exactMatch ncbigene:6191 semapv:UnspecifiedMatching +OMIM:312780 russell-silver syndrome, X-linked skos:exactMatch MONDO:0010727 semapv:UnspecifiedMatching +OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:11335 semapv:UnspecifiedMatching +OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:SSX1 semapv:UnspecifiedMatching +OMIM:312820 SSX1 skos:exactMatch ncbigene:6756 semapv:UnspecifiedMatching +OMIM:312830 scarf syndrome skos:exactMatch MONDO:0010728 semapv:UnspecifiedMatching +OMIM:312840 schimke X-linked mental retardation syndrome skos:exactMatch MONDO:0010729 semapv:UnspecifiedMatching +OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:5295 semapv:UnspecifiedMatching +OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:HTR2C semapv:UnspecifiedMatching +OMIM:312861 HTR2C skos:exactMatch ncbigene:3358 semapv:UnspecifiedMatching +OMIM:312863 combined immunodeficiency, X-linked skos:exactMatch MONDO:0010730 semapv:UnspecifiedMatching +OMIM:312865 SHOX skos:exactMatch hgnc.symbol:10853 semapv:UnspecifiedMatching +OMIM:312865 SHOX skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching +OMIM:312865 SHOX skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching +OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch MONDO:0020602 semapv:UnspecifiedMatching +OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch Orphanet:373 semapv:UnspecifiedMatching +OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching +OMIM:312910 spastic paraparesis and deafness skos:exactMatch MONDO:0010732 semapv:UnspecifiedMatching +OMIM:312920 spastic paraplegia 2, X-linked skos:exactMatch MONDO:0010733 semapv:UnspecifiedMatching +OMIM:313000 spatial visualization, aptitude for skos:exactMatch MONDO:0010734 semapv:UnspecifiedMatching +OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:10540 semapv:UnspecifiedMatching +OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:SAT1 semapv:UnspecifiedMatching +OMIM:313020 SAT1 skos:exactMatch ncbigene:6303 semapv:UnspecifiedMatching +OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 skos:exactMatch MONDO:0010735 semapv:UnspecifiedMatching +OMIM:313350 split-hand/foot malformation 2 skos:exactMatch MONDO:0010736 semapv:UnspecifiedMatching +OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch MONDO:0010737 semapv:UnspecifiedMatching +OMIM:313420 spondylometaphyseal dysplasia, X-linked skos:exactMatch MONDO:0010738 semapv:UnspecifiedMatching +OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:11199 semapv:UnspecifiedMatching +OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:SOX3 semapv:UnspecifiedMatching +OMIM:313430 SOX3 skos:exactMatch ncbigene:6658 semapv:UnspecifiedMatching +OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:11494 semapv:UnspecifiedMatching +OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:SYN1 semapv:UnspecifiedMatching +OMIM:313440 SYN1 skos:exactMatch ncbigene:6853 semapv:UnspecifiedMatching +OMIM:313470 CD99 skos:exactMatch hgnc.symbol:7082 semapv:UnspecifiedMatching +OMIM:313470 CD99 skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching +OMIM:313470 CD99 skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching +OMIM:313475 SYP skos:exactMatch hgnc.symbol:11506 semapv:UnspecifiedMatching +OMIM:313475 SYP skos:exactMatch hgnc.symbol:SYP semapv:UnspecifiedMatching +OMIM:313475 SYP skos:exactMatch ncbigene:6855 semapv:UnspecifiedMatching +OMIM:313480 taqi polymorphism skos:exactMatch MONDO:0010739 semapv:UnspecifiedMatching +OMIM:313490 taurodontism, microdontia, and dens invaginatus skos:exactMatch MONDO:0010740 semapv:UnspecifiedMatching +OMIM:313500 tooth agenesis, selective, x-linked, 1 skos:exactMatch MONDO:0010741 semapv:UnspecifiedMatching +OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:11535 semapv:UnspecifiedMatching +OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:TAF1 semapv:UnspecifiedMatching +OMIM:313650 TAF1 skos:exactMatch ncbigene:6872 semapv:UnspecifiedMatching +OMIM:313700 AR skos:exactMatch hgnc.symbol:644 semapv:UnspecifiedMatching +OMIM:313700 AR skos:exactMatch hgnc.symbol:AR semapv:UnspecifiedMatching +OMIM:313700 AR skos:exactMatch ncbigene:367 semapv:UnspecifiedMatching +OMIM:313850 thoracoabdominal syndrome skos:exactMatch MONDO:0010742 semapv:UnspecifiedMatching +OMIM:313900 thrombocytopenia 1 skos:exactMatch MONDO:0010743 semapv:UnspecifiedMatching +OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching +OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching +OMIM:313900 thrombocytopenia 1 skos:exactMatch UMLS:C1839163 semapv:UnspecifiedMatching +OMIM:314000 thrombocytopenia with elevated serum iga and renal disease skos:exactMatch MONDO:0010744 semapv:UnspecifiedMatching +OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked skos:exactMatch MONDO:0010745 semapv:UnspecifiedMatching +OMIM:314100 adducted thumbs, congenital skos:exactMatch MONDO:0010746 semapv:UnspecifiedMatching +OMIM:314200 TBG skos:exactMatch hgnc.symbol:11583 semapv:UnspecifiedMatching +OMIM:314200 TBG skos:exactMatch hgnc.symbol:SERPINA7 semapv:UnspecifiedMatching +OMIM:314200 TBG skos:exactMatch ncbigene:6906 semapv:UnspecifiedMatching +OMIM:314240 tooth size skos:exactMatch MONDO:0044265 semapv:UnspecifiedMatching +OMIM:314250 dystonia 3, torsion, X-linked skos:exactMatch MONDO:0010747 semapv:UnspecifiedMatching +OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia skos:exactMatch MONDO:0010748 semapv:UnspecifiedMatching +OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:11752 semapv:UnspecifiedMatching +OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:TFE3 semapv:UnspecifiedMatching +OMIM:314310 TFE3 skos:exactMatch ncbigene:7030 semapv:UnspecifiedMatching +OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch MONDO:0010749 semapv:UnspecifiedMatching +OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch Orphanet:3369 semapv:UnspecifiedMatching +OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch UMLS:C1839125 semapv:UnspecifiedMatching +OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet skos:exactMatch MONDO:0010750 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch UMLS:C1421268 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch UMLS:C5436948 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:12469 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:UBA1 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch ncbigene:7317 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch UMLS:C1420188 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch UMLS:C4016594 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:11022 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:SLC35A2 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch ncbigene:7355 semapv:UnspecifiedMatching +OMIM:314380 unique green phenomenon skos:exactMatch MONDO:0010751 semapv:UnspecifiedMatching +OMIM:314390 vacterl association, x-linked, with or without hydrocephalus skos:exactMatch MONDO:0010752 semapv:UnspecifiedMatching +OMIM:314400 cardiac valvular dysplasia, X-linked skos:exactMatch MONDO:0010753 semapv:UnspecifiedMatching +OMIM:314500 van den bosch syndrome skos:exactMatch MONDO:0010754 semapv:UnspecifiedMatching +OMIM:314550 vesicoureteral reflux, X-linked skos:exactMatch MONDO:0010755 semapv:UnspecifiedMatching +OMIM:314560 von willebrand disease, X-linked form skos:exactMatch MONDO:0010756 semapv:UnspecifiedMatching +OMIM:314570 widow's peak syndrome skos:exactMatch MONDO:0010757 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch MONDO:0010758 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:3454 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C1839735 semapv:UnspecifiedMatching +OMIM:314600 wildervanck syndrome skos:exactMatch MONDO:0010759 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch UMLS:C1421536 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch UMLS:C1848138 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch hgnc.symbol:12810 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch hgnc.symbol:XIST semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch ncbigene:7503 semapv:UnspecifiedMatching +OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:11114 semapv:UnspecifiedMatching +OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:KDM5C semapv:UnspecifiedMatching +OMIM:314690 KDM5C skos:exactMatch ncbigene:8242 semapv:UnspecifiedMatching +OMIM:314800 xh antigen skos:exactMatch MONDO:0010760 semapv:UnspecifiedMatching +OMIM:314850 XK skos:exactMatch hgnc.symbol:12811 semapv:UnspecifiedMatching +OMIM:314850 XK skos:exactMatch hgnc.symbol:XK semapv:UnspecifiedMatching +OMIM:314850 XK skos:exactMatch ncbigene:7504 semapv:UnspecifiedMatching +OMIM:314980 ZFX skos:exactMatch hgnc.symbol:12869 semapv:UnspecifiedMatching +OMIM:314980 ZFX skos:exactMatch hgnc.symbol:ZFX semapv:UnspecifiedMatching +OMIM:314980 ZFX skos:exactMatch ncbigene:7543 semapv:UnspecifiedMatching +OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:13128 semapv:UnspecifiedMatching +OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:ZNF711 semapv:UnspecifiedMatching +OMIM:314990 ZNF711 skos:exactMatch ncbigene:7552 semapv:UnspecifiedMatching +OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:13001 semapv:UnspecifiedMatching +OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:ZNF182 semapv:UnspecifiedMatching +OMIM:314993 ZNF182 skos:exactMatch ncbigene:7569 semapv:UnspecifiedMatching +OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:13107 semapv:UnspecifiedMatching +OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:ZNF41 semapv:UnspecifiedMatching +OMIM:314995 ZNF41 skos:exactMatch ncbigene:7592 semapv:UnspecifiedMatching +OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:13145 semapv:UnspecifiedMatching +OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:ZNF75D semapv:UnspecifiedMatching +OMIM:314997 ZNF75D skos:exactMatch ncbigene:7626 semapv:UnspecifiedMatching +OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:13156 semapv:UnspecifiedMatching +OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:ZNF81 semapv:UnspecifiedMatching +OMIM:314998 ZNF81 skos:exactMatch ncbigene:347344 semapv:UnspecifiedMatching +OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:2682 semapv:UnspecifiedMatching +OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:DAZ1 semapv:UnspecifiedMatching +OMIM:400003 DAZ1 skos:exactMatch ncbigene:1617 semapv:UnspecifiedMatching +OMIM:400004 retinitis pigmentosa, Y-linked skos:exactMatch MONDO:0010761 semapv:UnspecifiedMatching +OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:12633 semapv:UnspecifiedMatching +OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:USP9Y semapv:UnspecifiedMatching +OMIM:400005 USP9Y skos:exactMatch ncbigene:8287 semapv:UnspecifiedMatching +OMIM:400006 RBMY1A1 skos:exactMatch UMLS:C1419310 semapv:UnspecifiedMatching +OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:9912 semapv:UnspecifiedMatching +OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:RBMY1A1 semapv:UnspecifiedMatching +OMIM:400006 RBMY1A1 skos:exactMatch ncbigene:5940 semapv:UnspecifiedMatching +OMIM:400008 PRKY skos:exactMatch hgnc.symbol:9444 semapv:UnspecifiedMatching +OMIM:400008 PRKY skos:exactMatch hgnc.symbol:PRKY semapv:UnspecifiedMatching +OMIM:400008 PRKY skos:exactMatch ncbigene:5616 semapv:UnspecifiedMatching +OMIM:400009 UTY skos:exactMatch hgnc.symbol:12638 semapv:UnspecifiedMatching +OMIM:400009 UTY skos:exactMatch hgnc.symbol:UTY semapv:UnspecifiedMatching +OMIM:400009 UTY skos:exactMatch ncbigene:7404 semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch UMLS:C1413926 semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:2699 semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:DDX3Y semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch ncbigene:8653 semapv:UnspecifiedMatching +OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:751 semapv:UnspecifiedMatching +OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching +OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching +OMIM:400012 VCY skos:exactMatch hgnc.symbol:12668 semapv:UnspecifiedMatching +OMIM:400012 VCY skos:exactMatch hgnc.symbol:VCY semapv:UnspecifiedMatching +OMIM:400012 VCY skos:exactMatch ncbigene:9084 semapv:UnspecifiedMatching +OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:13508 semapv:UnspecifiedMatching +OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:BPY2 semapv:UnspecifiedMatching +OMIM:400013 BPY2 skos:exactMatch ncbigene:9083 semapv:UnspecifiedMatching +OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:3252 semapv:UnspecifiedMatching +OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:EIF1AY semapv:UnspecifiedMatching +OMIM:400014 EIF1AY skos:exactMatch ncbigene:9086 semapv:UnspecifiedMatching +OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:18571 semapv:UnspecifiedMatching +OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:XKRY semapv:UnspecifiedMatching +OMIM:400015 xk-related protein on y chromosome skos:exactMatch ncbigene:9082 semapv:UnspecifiedMatching +OMIM:400016 CDY1 skos:exactMatch UMLS:C1413303 semapv:UnspecifiedMatching +OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:1809 semapv:UnspecifiedMatching +OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:CDY1 semapv:UnspecifiedMatching +OMIM:400016 CDY1 skos:exactMatch ncbigene:9085 semapv:UnspecifiedMatching +OMIM:400017 TMSB4Y skos:exactMatch hgnc.symbol:11882 semapv:UnspecifiedMatching +OMIM:400017 TMSB4Y skos:exactMatch hgnc.symbol:TMSB4Y semapv:UnspecifiedMatching +OMIM:400017 TMSB4Y skos:exactMatch ncbigene:9087 semapv:UnspecifiedMatching +OMIM:400018 CDY2A skos:exactMatch UMLS:C1824691 semapv:UnspecifiedMatching +OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:1810 semapv:UnspecifiedMatching +OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:CDY2A semapv:UnspecifiedMatching +OMIM:400018 CDY2A skos:exactMatch ncbigene:9426 semapv:UnspecifiedMatching +OMIM:400019 PRY skos:exactMatch hgnc.symbol:14024 semapv:UnspecifiedMatching +OMIM:400019 PRY skos:exactMatch hgnc.symbol:PRY semapv:UnspecifiedMatching +OMIM:400019 PRY skos:exactMatch ncbigene:9081 semapv:UnspecifiedMatching +OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:10853 semapv:UnspecifiedMatching +OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching +OMIM:400020 SHOXY skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching +OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal skos:exactMatch MONDO:0010762 semapv:UnspecifiedMatching +OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:15813 semapv:UnspecifiedMatching +OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:PCDH11Y semapv:UnspecifiedMatching +OMIM:400022 PCDH11Y skos:exactMatch ncbigene:83259 semapv:UnspecifiedMatching +OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:14281 semapv:UnspecifiedMatching +OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching +OMIM:400023 CRLF2Y skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching +OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:18569 semapv:UnspecifiedMatching +OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:TGIF2LY semapv:UnspecifiedMatching +OMIM:400025 TGIF2LY skos:exactMatch ncbigene:90655 semapv:UnspecifiedMatching +OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:15964 semapv:UnspecifiedMatching +OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:DAZ2 semapv:UnspecifiedMatching +OMIM:400026 DAZ2 skos:exactMatch ncbigene:57055 semapv:UnspecifiedMatching +OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:15965 semapv:UnspecifiedMatching +OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:DAZ3 semapv:UnspecifiedMatching +OMIM:400027 DAZ3 skos:exactMatch ncbigene:57054 semapv:UnspecifiedMatching +OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:15529 semapv:UnspecifiedMatching +OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:NLGN4Y semapv:UnspecifiedMatching +OMIM:400028 NLGN4Y skos:exactMatch ncbigene:22829 semapv:UnspecifiedMatching +OMIM:400029 HSFY skos:exactMatch hgnc.symbol:18568 semapv:UnspecifiedMatching +OMIM:400029 HSFY skos:exactMatch hgnc.symbol:HSFY1 semapv:UnspecifiedMatching +OMIM:400029 HSFY skos:exactMatch ncbigene:86614 semapv:UnspecifiedMatching +OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:18501 semapv:UnspecifiedMatching +OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:RPS4Y2 semapv:UnspecifiedMatching +OMIM:400030 RPS4Y2 skos:exactMatch ncbigene:140032 semapv:UnspecifiedMatching +OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:18473 semapv:UnspecifiedMatching +OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:TXLNGY semapv:UnspecifiedMatching +OMIM:400031 TXLNGY skos:exactMatch ncbigene:246126 semapv:UnspecifiedMatching +OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:18502 semapv:UnspecifiedMatching +OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:TBL1Y semapv:UnspecifiedMatching +OMIM:400033 TBL1Y skos:exactMatch ncbigene:90665 semapv:UnspecifiedMatching +OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:16478 semapv:UnspecifiedMatching +OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:CSPG4P1Y semapv:UnspecifiedMatching +OMIM:400034 CSPG4P1Y skos:exactMatch ncbigene:114758 semapv:UnspecifiedMatching +OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:16479 semapv:UnspecifiedMatching +OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:GOLGA2P2Y semapv:UnspecifiedMatching +OMIM:400035 GOLGA2P2Y skos:exactMatch ncbigene:84559 semapv:UnspecifiedMatching +OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:16480 semapv:UnspecifiedMatching +OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:TTTY3 semapv:UnspecifiedMatching +OMIM:400036 TTTY3 skos:exactMatch ncbigene:114760 semapv:UnspecifiedMatching +OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:16481 semapv:UnspecifiedMatching +OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:TTTY4 semapv:UnspecifiedMatching +OMIM:400037 TTTY4 skos:exactMatch ncbigene:114761 semapv:UnspecifiedMatching +OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:16482 semapv:UnspecifiedMatching +OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:TTTY5 semapv:UnspecifiedMatching +OMIM:400038 TTTY5 skos:exactMatch ncbigene:83863 semapv:UnspecifiedMatching +OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:16483 semapv:UnspecifiedMatching +OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:TTTY6 semapv:UnspecifiedMatching +OMIM:400039 TTTY6 skos:exactMatch ncbigene:84672 semapv:UnspecifiedMatching +OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:18841 semapv:UnspecifiedMatching +OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:TTTY17A semapv:UnspecifiedMatching +OMIM:400040 TTTY17 skos:exactMatch ncbigene:252949 semapv:UnspecifiedMatching +OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:21504 semapv:UnspecifiedMatching +OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:PRY2 semapv:UnspecifiedMatching +OMIM:400041 PRY2 skos:exactMatch ncbigene:442862 semapv:UnspecifiedMatching +OMIM:400042 spermatogenic failure, y-linked, 1 skos:exactMatch MONDO:0010763 semapv:UnspecifiedMatching +OMIM:400043 deafness, Y-linked 1 skos:exactMatch MONDO:0010764 semapv:UnspecifiedMatching +OMIM:400044 46,xy sex reversal 1 skos:exactMatch MONDO:0020712 semapv:UnspecifiedMatching +OMIM:400044 46,xy sex reversal 1 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching +OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching +OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748898 semapv:UnspecifiedMatching +OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748899 semapv:UnspecifiedMatching +OMIM:400045 46,xx sex reversal 1 skos:exactMatch MONDO:0100250 semapv:UnspecifiedMatching +OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:2138 semapv:UnspecifiedMatching +OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:393 semapv:UnspecifiedMatching +OMIM:400045 46,xx sex reversal 1 skos:exactMatch UMLS:C2748895 semapv:UnspecifiedMatching +OMIM:400047 deafness, Y-linked 2 skos:exactMatch MONDO:0027048 semapv:UnspecifiedMatching +OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:15966 semapv:UnspecifiedMatching +OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:DAZ4 semapv:UnspecifiedMatching +OMIM:400048 DAZ4 skos:exactMatch ncbigene:57135 semapv:UnspecifiedMatching +OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:31751 semapv:UnspecifiedMatching +OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:VCY1B semapv:UnspecifiedMatching +OMIM:400050 VCY1B skos:exactMatch ncbigene:353513 semapv:UnspecifiedMatching +OMIM:402500 ASMT skos:exactMatch hgnc.symbol:750 semapv:UnspecifiedMatching +OMIM:402500 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching +OMIM:402500 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching +OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:10992 semapv:UnspecifiedMatching +OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching +OMIM:403000 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching +OMIM:410000 AMELY skos:exactMatch hgnc.symbol:462 semapv:UnspecifiedMatching +OMIM:410000 AMELY skos:exactMatch hgnc.symbol:AMELY semapv:UnspecifiedMatching +OMIM:410000 AMELY skos:exactMatch ncbigene:266 semapv:UnspecifiedMatching +OMIM:415000 spermatogenic failure, y-linked, 2 skos:exactMatch MONDO:0010767 semapv:UnspecifiedMatching +OMIM:424500 gonadoblastoma skos:exactMatch MONDO:0002697 semapv:UnspecifiedMatching +OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching +OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching +OMIM:425000 CSF2RY skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching +OMIM:425500 hairy ears, Y-linked skos:exactMatch MONDO:0010769 semapv:UnspecifiedMatching +OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:11115 semapv:UnspecifiedMatching +OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:KDM5D semapv:UnspecifiedMatching +OMIM:426000 KDM5D skos:exactMatch ncbigene:8284 semapv:UnspecifiedMatching +OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching +OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching +OMIM:430000 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching +OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:7082 semapv:UnspecifiedMatching +OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching +OMIM:450000 cd99 antigen, y chromosome skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching +OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:18783 semapv:UnspecifiedMatching +OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching +OMIM:465000 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching +OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:10425 semapv:UnspecifiedMatching +OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:RPS4Y1 semapv:UnspecifiedMatching +OMIM:470000 RPS4Y1 skos:exactMatch ncbigene:6192 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch UMLS:C1420418 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch hgnc.symbol:11311 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch hgnc.symbol:SRY semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch ncbigene:6736 semapv:UnspecifiedMatching +OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:12381 semapv:UnspecifiedMatching +OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:TSPY1 semapv:UnspecifiedMatching +OMIM:480100 TSPY1 skos:exactMatch ncbigene:7258 semapv:UnspecifiedMatching +OMIM:489000 ubiquitin-activating enzyme, Y-linked skos:exactMatch MONDO:0010770 semapv:UnspecifiedMatching +OMIM:490000 ZFY skos:exactMatch hgnc.symbol:12870 semapv:UnspecifiedMatching +OMIM:490000 ZFY skos:exactMatch hgnc.symbol:ZFY semapv:UnspecifiedMatching +OMIM:490000 ZFY skos:exactMatch ncbigene:7544 semapv:UnspecifiedMatching +OMIM:500000 cardiomyopathy, infantile histiocytoid skos:exactMatch MONDO:0010771 semapv:UnspecifiedMatching +OMIM:500001 leber optic atrophy and dystonia skos:exactMatch MONDO:0010772 semapv:UnspecifiedMatching +OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch MONDO:0010773 semapv:UnspecifiedMatching +OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 semapv:UnspecifiedMatching +OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching +OMIM:500003 striatonigral degeneration, infantile, mitochondrial skos:exactMatch MONDO:0010774 semapv:UnspecifiedMatching +OMIM:500004 retinitis pigmentosa-deafness syndrome skos:exactMatch MONDO:0010775 semapv:UnspecifiedMatching +OMIM:500005 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch MONDO:0010776 semapv:UnspecifiedMatching +OMIM:500006 cardiomyopathy, infantile hypertrophic skos:exactMatch MONDO:0010777 semapv:UnspecifiedMatching +OMIM:500007 cyclic vomiting syndrome skos:exactMatch MONDO:0010778 semapv:UnspecifiedMatching +OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial skos:exactMatch MONDO:0010779 semapv:UnspecifiedMatching +OMIM:500009 mitochondrial myopathy, infantile, transient skos:exactMatch MONDO:0010780 semapv:UnspecifiedMatching +OMIM:500010 ataxia and polyneuropathy, adult-onset skos:exactMatch MONDO:0010781 semapv:UnspecifiedMatching +OMIM:500011 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch MONDO:0010782 semapv:UnspecifiedMatching +OMIM:500013 charcot-marie-tooth disease, axonal, mitochondrial form, 1 skos:exactMatch MONDO:0025622 semapv:UnspecifiedMatching +OMIM:500014 mitochondrial complex 1 deficiency, mitochondrial iia 1 skos:exactMatch MONDO:0027068 semapv:UnspecifiedMatching +OMIM:500015 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial iia 1 skos:exactMatch MONDO:0027069 semapv:UnspecifiedMatching +OMIM:502500 alzheimer disease, susceptibility to, mitochondrial skos:exactMatch MONDO:0100295 semapv:UnspecifiedMatching +OMIM:515000 chloramphenicol toxicity skos:exactMatch MONDO:0010784 semapv:UnspecifiedMatching +OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:7455 semapv:UnspecifiedMatching +OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:MT-ND1 semapv:UnspecifiedMatching +OMIM:516000 MTND1 skos:exactMatch ncbigene:4535 semapv:UnspecifiedMatching +OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:7456 semapv:UnspecifiedMatching +OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:MT-ND2 semapv:UnspecifiedMatching +OMIM:516001 MTND2 skos:exactMatch ncbigene:4536 semapv:UnspecifiedMatching +OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:7458 semapv:UnspecifiedMatching +OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:MT-ND3 semapv:UnspecifiedMatching +OMIM:516002 MTND3 skos:exactMatch ncbigene:4537 semapv:UnspecifiedMatching +OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:7459 semapv:UnspecifiedMatching +OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:MT-ND4 semapv:UnspecifiedMatching +OMIM:516003 MTND4 skos:exactMatch ncbigene:4538 semapv:UnspecifiedMatching +OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:7460 semapv:UnspecifiedMatching +OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:MT-ND4L semapv:UnspecifiedMatching +OMIM:516004 MTND4L skos:exactMatch ncbigene:4539 semapv:UnspecifiedMatching +OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:7461 semapv:UnspecifiedMatching +OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:MT-ND5 semapv:UnspecifiedMatching +OMIM:516005 MTND5 skos:exactMatch ncbigene:4540 semapv:UnspecifiedMatching +OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:7462 semapv:UnspecifiedMatching +OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:MT-ND6 semapv:UnspecifiedMatching +OMIM:516006 MTND6 skos:exactMatch ncbigene:4541 semapv:UnspecifiedMatching +OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:7427 semapv:UnspecifiedMatching +OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:MT-CYB semapv:UnspecifiedMatching +OMIM:516020 MTCYB skos:exactMatch ncbigene:4519 semapv:UnspecifiedMatching +OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:7419 semapv:UnspecifiedMatching +OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:MT-CO1 semapv:UnspecifiedMatching +OMIM:516030 MTCO1 skos:exactMatch ncbigene:4512 semapv:UnspecifiedMatching +OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:7421 semapv:UnspecifiedMatching +OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:MT-CO2 semapv:UnspecifiedMatching +OMIM:516040 MTCO2 skos:exactMatch ncbigene:4513 semapv:UnspecifiedMatching +OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:7422 semapv:UnspecifiedMatching +OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:MT-CO3 semapv:UnspecifiedMatching +OMIM:516050 MTCO3 skos:exactMatch ncbigene:4514 semapv:UnspecifiedMatching +OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:7414 semapv:UnspecifiedMatching +OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:MT-ATP6 semapv:UnspecifiedMatching +OMIM:516060 MTATP6 skos:exactMatch ncbigene:4508 semapv:UnspecifiedMatching +OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:7415 semapv:UnspecifiedMatching +OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:MT-ATP8 semapv:UnspecifiedMatching +OMIM:516070 MTATP8 skos:exactMatch ncbigene:4509 semapv:UnspecifiedMatching +OMIM:520000 diabetes and deafness, maternally inherited skos:exactMatch MONDO:0010785 semapv:UnspecifiedMatching +OMIM:520100 diarrhea, chronic, with villous atrophy skos:exactMatch MONDO:0010786 semapv:UnspecifiedMatching +OMIM:530000 kearns-sayre syndrome skos:exactMatch MONDO:0010787 semapv:UnspecifiedMatching +OMIM:535000 leber optic atrophy skos:exactMatch MONDO:0010788 semapv:UnspecifiedMatching +OMIM:540000 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes skos:exactMatch MONDO:0010789 semapv:UnspecifiedMatching +OMIM:545000 myoclonic epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 semapv:UnspecifiedMatching +OMIM:550500 myoglobinuria, recurrent skos:exactMatch MONDO:0010791 semapv:UnspecifiedMatching +OMIM:551000 mitochondrial myopathy, lethal, infantile skos:exactMatch MONDO:0010792 semapv:UnspecifiedMatching +OMIM:551200 nephropathy, chronic tubulointerstitial skos:exactMatch MONDO:0010793 semapv:UnspecifiedMatching +OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa skos:exactMatch MONDO:0010794 semapv:UnspecifiedMatching +OMIM:553000 oncocytoma skos:exactMatch MONDO:0010795 semapv:UnspecifiedMatching +OMIM:556500 parkinson disease, mitochondrial skos:exactMatch MONDO:0010796 semapv:UnspecifiedMatching +OMIM:557000 pearson marrow-pancreas syndrome skos:exactMatch MONDO:0010797 semapv:UnspecifiedMatching +OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia skos:exactMatch MONDO:0010798 semapv:UnspecifiedMatching +OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:7470 semapv:UnspecifiedMatching +OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:MT-RNR1 semapv:UnspecifiedMatching +OMIM:561000 MTRNR1 skos:exactMatch ncbigene:4549 semapv:UnspecifiedMatching +OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:7471 semapv:UnspecifiedMatching +OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:MT-RNR2 semapv:UnspecifiedMatching +OMIM:561010 MTRNR2 skos:exactMatch ncbigene:4550 semapv:UnspecifiedMatching +OMIM:580000 deafness, aminoglycoside-induced skos:exactMatch MONDO:0010799 semapv:UnspecifiedMatching +OMIM:590000 MTTA skos:exactMatch hgnc.symbol:7475 semapv:UnspecifiedMatching +OMIM:590000 MTTA skos:exactMatch hgnc.symbol:MT-TA semapv:UnspecifiedMatching +OMIM:590000 MTTA skos:exactMatch ncbigene:4553 semapv:UnspecifiedMatching +OMIM:590005 MTTR skos:exactMatch hgnc.symbol:7496 semapv:UnspecifiedMatching +OMIM:590005 MTTR skos:exactMatch hgnc.symbol:MT-TR semapv:UnspecifiedMatching +OMIM:590005 MTTR skos:exactMatch ncbigene:4573 semapv:UnspecifiedMatching +OMIM:590010 MTTN skos:exactMatch hgnc.symbol:7493 semapv:UnspecifiedMatching +OMIM:590010 MTTN skos:exactMatch hgnc.symbol:MT-TN semapv:UnspecifiedMatching +OMIM:590010 MTTN skos:exactMatch ncbigene:4570 semapv:UnspecifiedMatching +OMIM:590015 MTTD skos:exactMatch hgnc.symbol:7478 semapv:UnspecifiedMatching +OMIM:590015 MTTD skos:exactMatch hgnc.symbol:MT-TD semapv:UnspecifiedMatching +OMIM:590015 MTTD skos:exactMatch ncbigene:4555 semapv:UnspecifiedMatching +OMIM:590020 MTTC skos:exactMatch hgnc.symbol:7477 semapv:UnspecifiedMatching +OMIM:590020 MTTC skos:exactMatch hgnc.symbol:MT-TC semapv:UnspecifiedMatching +OMIM:590020 MTTC skos:exactMatch ncbigene:4511 semapv:UnspecifiedMatching +OMIM:590025 MTTE skos:exactMatch hgnc.symbol:7479 semapv:UnspecifiedMatching +OMIM:590025 MTTE skos:exactMatch hgnc.symbol:MT-TE semapv:UnspecifiedMatching +OMIM:590025 MTTE skos:exactMatch ncbigene:4556 semapv:UnspecifiedMatching +OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:7495 semapv:UnspecifiedMatching +OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:MT-TQ semapv:UnspecifiedMatching +OMIM:590030 MTTQ skos:exactMatch ncbigene:4572 semapv:UnspecifiedMatching +OMIM:590035 MTTG skos:exactMatch hgnc.symbol:7486 semapv:UnspecifiedMatching +OMIM:590035 MTTG skos:exactMatch hgnc.symbol:MT-TG semapv:UnspecifiedMatching +OMIM:590035 MTTG skos:exactMatch ncbigene:4563 semapv:UnspecifiedMatching +OMIM:590040 MTTH skos:exactMatch hgnc.symbol:7487 semapv:UnspecifiedMatching +OMIM:590040 MTTH skos:exactMatch hgnc.symbol:MT-TH semapv:UnspecifiedMatching +OMIM:590040 MTTH skos:exactMatch ncbigene:4564 semapv:UnspecifiedMatching +OMIM:590045 MTTI skos:exactMatch hgnc.symbol:7488 semapv:UnspecifiedMatching +OMIM:590045 MTTI skos:exactMatch hgnc.symbol:MT-TI semapv:UnspecifiedMatching +OMIM:590045 MTTI skos:exactMatch ncbigene:4565 semapv:UnspecifiedMatching +OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:7490 semapv:UnspecifiedMatching +OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:MT-TL1 semapv:UnspecifiedMatching +OMIM:590050 MTTL1 skos:exactMatch ncbigene:4567 semapv:UnspecifiedMatching +OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:7491 semapv:UnspecifiedMatching +OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:MT-TL2 semapv:UnspecifiedMatching +OMIM:590055 MTTL2 skos:exactMatch ncbigene:4568 semapv:UnspecifiedMatching +OMIM:590060 MTTK skos:exactMatch hgnc.symbol:7489 semapv:UnspecifiedMatching +OMIM:590060 MTTK skos:exactMatch hgnc.symbol:MT-TK semapv:UnspecifiedMatching +OMIM:590060 MTTK skos:exactMatch ncbigene:4566 semapv:UnspecifiedMatching +OMIM:590065 MTTM skos:exactMatch hgnc.symbol:7492 semapv:UnspecifiedMatching +OMIM:590065 MTTM skos:exactMatch hgnc.symbol:MT-TM semapv:UnspecifiedMatching +OMIM:590065 MTTM skos:exactMatch ncbigene:4569 semapv:UnspecifiedMatching +OMIM:590070 MTTF skos:exactMatch hgnc.symbol:7481 semapv:UnspecifiedMatching +OMIM:590070 MTTF skos:exactMatch hgnc.symbol:MT-TF semapv:UnspecifiedMatching +OMIM:590070 MTTF skos:exactMatch ncbigene:4558 semapv:UnspecifiedMatching +OMIM:590075 MTTP skos:exactMatch hgnc.symbol:7494 semapv:UnspecifiedMatching +OMIM:590075 MTTP skos:exactMatch hgnc.symbol:MT-TP semapv:UnspecifiedMatching +OMIM:590075 MTTP skos:exactMatch ncbigene:4571 semapv:UnspecifiedMatching +OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:7497 semapv:UnspecifiedMatching +OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:MT-TS1 semapv:UnspecifiedMatching +OMIM:590080 MTTS1 skos:exactMatch ncbigene:4574 semapv:UnspecifiedMatching +OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:7498 semapv:UnspecifiedMatching +OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:MT-TS2 semapv:UnspecifiedMatching +OMIM:590085 MTTS2 skos:exactMatch ncbigene:4575 semapv:UnspecifiedMatching +OMIM:590090 MTTT skos:exactMatch hgnc.symbol:7499 semapv:UnspecifiedMatching +OMIM:590090 MTTT skos:exactMatch hgnc.symbol:MT-TT semapv:UnspecifiedMatching +OMIM:590090 MTTT skos:exactMatch ncbigene:4576 semapv:UnspecifiedMatching +OMIM:590095 MTTW skos:exactMatch hgnc.symbol:7501 semapv:UnspecifiedMatching +OMIM:590095 MTTW skos:exactMatch hgnc.symbol:MT-TW semapv:UnspecifiedMatching +OMIM:590095 MTTW skos:exactMatch ncbigene:4578 semapv:UnspecifiedMatching +OMIM:590100 MTTY skos:exactMatch hgnc.symbol:7502 semapv:UnspecifiedMatching +OMIM:590100 MTTY skos:exactMatch hgnc.symbol:MT-TY semapv:UnspecifiedMatching +OMIM:590100 MTTY skos:exactMatch ncbigene:4579 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C0023264 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C1538016 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C4016634 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch UMLS:C5435765 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch hgnc.symbol:7500 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch hgnc.symbol:MT-TV semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch ncbigene:4577 semapv:UnspecifiedMatching +OMIM:598500 wolfram syndrome, mitochondrial form skos:exactMatch MONDO:0010800 semapv:UnspecifiedMatching +OMIM:600000 spondylocamptodactyly skos:exactMatch MONDO:0010801 semapv:UnspecifiedMatching +OMIM:600001 heart defects, congenital, and other congenital anomalies skos:exactMatch MONDO:0010802 semapv:UnspecifiedMatching +OMIM:600002 eiken syndrome skos:exactMatch MONDO:0010803 semapv:UnspecifiedMatching +OMIM:600002 eiken syndrome skos:exactMatch Orphanet:79106 semapv:UnspecifiedMatching +OMIM:600002 eiken syndrome skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching +OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:1402 semapv:UnspecifiedMatching +OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:CACNB2 semapv:UnspecifiedMatching +OMIM:600003 CACNB2 skos:exactMatch ncbigene:783 semapv:UnspecifiedMatching +OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:3389 semapv:UnspecifiedMatching +OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:EPHA5 semapv:UnspecifiedMatching +OMIM:600004 EPHA5 skos:exactMatch ncbigene:2044 semapv:UnspecifiedMatching +OMIM:600005 CIITA skos:exactMatch hgnc.symbol:7067 semapv:UnspecifiedMatching +OMIM:600005 CIITA skos:exactMatch hgnc.symbol:CIITA semapv:UnspecifiedMatching +OMIM:600005 CIITA skos:exactMatch ncbigene:4261 semapv:UnspecifiedMatching +OMIM:600006 RFX1 skos:exactMatch UMLS:C1419359 semapv:UnspecifiedMatching +OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:9982 semapv:UnspecifiedMatching +OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:RFX1 semapv:UnspecifiedMatching +OMIM:600006 RFX1 skos:exactMatch ncbigene:5989 semapv:UnspecifiedMatching +OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:3766 semapv:UnspecifiedMatching +OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:FLT3LG semapv:UnspecifiedMatching +OMIM:600007 FLT3LG skos:exactMatch ncbigene:2323 semapv:UnspecifiedMatching +OMIM:600008 NNMT skos:exactMatch hgnc.symbol:7861 semapv:UnspecifiedMatching +OMIM:600008 NNMT skos:exactMatch hgnc.symbol:NNMT semapv:UnspecifiedMatching +OMIM:600008 NNMT skos:exactMatch ncbigene:4837 semapv:UnspecifiedMatching +OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:5397 semapv:UnspecifiedMatching +OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:IFI27 semapv:UnspecifiedMatching +OMIM:600009 IFI27 skos:exactMatch ncbigene:3429 semapv:UnspecifiedMatching +OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:6090 semapv:UnspecifiedMatching +OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:INSM1 semapv:UnspecifiedMatching +OMIM:600010 INSM1 skos:exactMatch ncbigene:3642 semapv:UnspecifiedMatching +OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:3395 semapv:UnspecifiedMatching +OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:EPHB4 semapv:UnspecifiedMatching +OMIM:600011 EPHB4 skos:exactMatch ncbigene:2050 semapv:UnspecifiedMatching +OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:12486 semapv:UnspecifiedMatching +OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:UBE2L1 semapv:UnspecifiedMatching +OMIM:600012 UBE2L1 skos:exactMatch ncbigene:283556 semapv:UnspecifiedMatching +OMIM:600013 YY1 skos:exactMatch hgnc.symbol:12856 semapv:UnspecifiedMatching +OMIM:600013 YY1 skos:exactMatch hgnc.symbol:YY1 semapv:UnspecifiedMatching +OMIM:600013 YY1 skos:exactMatch ncbigene:7528 semapv:UnspecifiedMatching +OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:11098 semapv:UnspecifiedMatching +OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:SMARCA2 semapv:UnspecifiedMatching +OMIM:600014 SMARCA2 skos:exactMatch ncbigene:6595 semapv:UnspecifiedMatching +OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:2171 semapv:UnspecifiedMatching +OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:CNTN1 semapv:UnspecifiedMatching +OMIM:600016 CNTN1 skos:exactMatch ncbigene:1272 semapv:UnspecifiedMatching +OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:10661 semapv:UnspecifiedMatching +OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:SDC4 semapv:UnspecifiedMatching +OMIM:600017 SDC4 skos:exactMatch ncbigene:6385 semapv:UnspecifiedMatching +OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:8156 semapv:UnspecifiedMatching +OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:OPRM1 semapv:UnspecifiedMatching +OMIM:600018 OPRM1 skos:exactMatch ncbigene:4988 semapv:UnspecifiedMatching +OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:2571 semapv:UnspecifiedMatching +OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:CYB561 semapv:UnspecifiedMatching +OMIM:600019 CYB561 skos:exactMatch ncbigene:1534 semapv:UnspecifiedMatching +OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:7534 semapv:UnspecifiedMatching +OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:MXI1 semapv:UnspecifiedMatching +OMIM:600020 MXI1 skos:exactMatch ncbigene:4601 semapv:UnspecifiedMatching +OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:6761 semapv:UnspecifiedMatching +OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:MXD1 semapv:UnspecifiedMatching +OMIM:600021 MXD1 skos:exactMatch ncbigene:4084 semapv:UnspecifiedMatching +OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:9602 semapv:UnspecifiedMatching +OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:PTGIR semapv:UnspecifiedMatching +OMIM:600022 PTGIR skos:exactMatch ncbigene:5739 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch UMLS:C1413269 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:1750 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:CDH11 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch ncbigene:1009 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch UMLS:C0748397 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch UMLS:C1416802 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch UMLS:C2931048 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch UMLS:C4747922 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch hgnc.symbol:6518 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch hgnc.symbol:LBR semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch ncbigene:3930 semapv:UnspecifiedMatching +OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:6387 semapv:UnspecifiedMatching +OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:KLC1 semapv:UnspecifiedMatching +OMIM:600025 KLC1 skos:exactMatch ncbigene:3831 semapv:UnspecifiedMatching +OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:11168 semapv:UnspecifiedMatching +OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:SNTB1 semapv:UnspecifiedMatching +OMIM:600026 SNTB1 skos:exactMatch ncbigene:6641 semapv:UnspecifiedMatching +OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:11169 semapv:UnspecifiedMatching +OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:SNTB2 semapv:UnspecifiedMatching +OMIM:600027 SNTB2 skos:exactMatch ncbigene:6645 semapv:UnspecifiedMatching +OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:2918 semapv:UnspecifiedMatching +OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:DLX5 semapv:UnspecifiedMatching +OMIM:600028 DLX5 skos:exactMatch ncbigene:1749 semapv:UnspecifiedMatching +OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:2914 semapv:UnspecifiedMatching +OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:DLX1 semapv:UnspecifiedMatching +OMIM:600029 DLX1 skos:exactMatch ncbigene:1745 semapv:UnspecifiedMatching +OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:2919 semapv:UnspecifiedMatching +OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:DLX6 semapv:UnspecifiedMatching +OMIM:600030 DLX6 skos:exactMatch ncbigene:1750 semapv:UnspecifiedMatching +OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:1936 semapv:UnspecifiedMatching +OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:CHIT1 semapv:UnspecifiedMatching +OMIM:600031 CHIT1 skos:exactMatch ncbigene:1118 semapv:UnspecifiedMatching +OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:11761 semapv:UnspecifiedMatching +OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:TFPI2 semapv:UnspecifiedMatching +OMIM:600033 TFPI2 skos:exactMatch ncbigene:7980 semapv:UnspecifiedMatching +OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:3340 semapv:UnspecifiedMatching +OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:EMX1 semapv:UnspecifiedMatching +OMIM:600034 EMX1 skos:exactMatch ncbigene:2016 semapv:UnspecifiedMatching +OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:3341 semapv:UnspecifiedMatching +OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:EMX2 semapv:UnspecifiedMatching +OMIM:600035 EMX2 skos:exactMatch ncbigene:2018 semapv:UnspecifiedMatching +OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:8521 semapv:UnspecifiedMatching +OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:OTX1 semapv:UnspecifiedMatching +OMIM:600036 OTX1 skos:exactMatch ncbigene:5013 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch UMLS:C1418202 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch UMLS:C1864690 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch UMLS:C3149814 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch UMLS:C3151440 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch UMLS:C4225589 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:8522 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:OTX2 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch ncbigene:5015 semapv:UnspecifiedMatching +OMIM:600038 MATK skos:exactMatch hgnc.symbol:6906 semapv:UnspecifiedMatching +OMIM:600038 MATK skos:exactMatch hgnc.symbol:MATK semapv:UnspecifiedMatching +OMIM:600038 MATK skos:exactMatch ncbigene:4145 semapv:UnspecifiedMatching +OMIM:600039 BCL2L1 skos:exactMatch UMLS:C1332397 semapv:UnspecifiedMatching +OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:992 semapv:UnspecifiedMatching +OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:BCL2L1 semapv:UnspecifiedMatching +OMIM:600039 BCL2L1 skos:exactMatch ncbigene:598 semapv:UnspecifiedMatching +OMIM:600040 BAX skos:exactMatch hgnc.symbol:959 semapv:UnspecifiedMatching +OMIM:600040 BAX skos:exactMatch hgnc.symbol:BAX semapv:UnspecifiedMatching +OMIM:600040 BAX skos:exactMatch ncbigene:581 semapv:UnspecifiedMatching +OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:8541 semapv:UnspecifiedMatching +OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:P2RY2 semapv:UnspecifiedMatching +OMIM:600041 P2RY2 skos:exactMatch ncbigene:5029 semapv:UnspecifiedMatching +OMIM:600042 MC5R skos:exactMatch hgnc.symbol:6933 semapv:UnspecifiedMatching +OMIM:600042 MC5R skos:exactMatch hgnc.symbol:MC5R semapv:UnspecifiedMatching +OMIM:600042 MC5R skos:exactMatch ncbigene:4161 semapv:UnspecifiedMatching +OMIM:600043 SULT1E1 skos:exactMatch hgnc.symbol:11377 semapv:UnspecifiedMatching +OMIM:600043 SULT1E1 skos:exactMatch hgnc.symbol:SULT1E1 semapv:UnspecifiedMatching +OMIM:600043 SULT1E1 skos:exactMatch ncbigene:6783 semapv:UnspecifiedMatching +OMIM:600044 THPO skos:exactMatch hgnc.symbol:11795 semapv:UnspecifiedMatching +OMIM:600044 THPO skos:exactMatch hgnc.symbol:THPO semapv:UnspecifiedMatching +OMIM:600044 THPO skos:exactMatch ncbigene:7066 semapv:UnspecifiedMatching +OMIM:600045 DDB1 skos:exactMatch hgnc.symbol:2717 semapv:UnspecifiedMatching +OMIM:600045 DDB1 skos:exactMatch hgnc.symbol:DDB1 semapv:UnspecifiedMatching +OMIM:600045 DDB1 skos:exactMatch ncbigene:1642 semapv:UnspecifiedMatching +OMIM:600046 ABCA1 skos:exactMatch hgnc.symbol:29 semapv:UnspecifiedMatching +OMIM:600046 ABCA1 skos:exactMatch hgnc.symbol:ABCA1 semapv:UnspecifiedMatching +OMIM:600046 ABCA1 skos:exactMatch ncbigene:19 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch UMLS:C1412061 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394564 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394565 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:32 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:ABCA2 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch ncbigene:20 semapv:UnspecifiedMatching +OMIM:600048 skos:exactMatch MONDO:0010804 semapv:UnspecifiedMatching +OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:6850 semapv:UnspecifiedMatching +OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:MAP3K11 semapv:UnspecifiedMatching +OMIM:600050 MAP3K11 skos:exactMatch ncbigene:4296 semapv:UnspecifiedMatching +OMIM:600051 EPS15 skos:exactMatch UMLS:C1333343 semapv:UnspecifiedMatching +OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:3419 semapv:UnspecifiedMatching +OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:EPS15 semapv:UnspecifiedMatching +OMIM:600051 EPS15 skos:exactMatch ncbigene:2060 semapv:UnspecifiedMatching +OMIM:600052 APLNR skos:exactMatch hgnc.symbol:339 semapv:UnspecifiedMatching +OMIM:600052 APLNR skos:exactMatch hgnc.symbol:APLNR semapv:UnspecifiedMatching +OMIM:600052 APLNR skos:exactMatch ncbigene:187 semapv:UnspecifiedMatching +OMIM:600053 CNGA3 skos:exactMatch hgnc.symbol:2150 semapv:UnspecifiedMatching +OMIM:600053 CNGA3 skos:exactMatch hgnc.symbol:CNGA3 semapv:UnspecifiedMatching +OMIM:600053 CNGA3 skos:exactMatch ncbigene:1261 semapv:UnspecifiedMatching +OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch MONDO:0700039 semapv:UnspecifiedMatching +OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching +OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:93930 semapv:UnspecifiedMatching +OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch UMLS:C1838703 semapv:UnspecifiedMatching +OMIM:600058 TXK skos:exactMatch hgnc.symbol:12434 semapv:UnspecifiedMatching +OMIM:600058 TXK skos:exactMatch hgnc.symbol:TXK semapv:UnspecifiedMatching +OMIM:600058 TXK skos:exactMatch ncbigene:7294 semapv:UnspecifiedMatching +OMIM:600059 retinitis pigmentosa 13 skos:exactMatch MONDO:0010806 semapv:UnspecifiedMatching +OMIM:600059 retinitis pigmentosa 13 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:600059 retinitis pigmentosa 13 skos:exactMatch UMLS:C1838702 semapv:UnspecifiedMatching +OMIM:600060 deafness, autosomal recessive 2 skos:exactMatch MONDO:0010807 semapv:UnspecifiedMatching +OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:9812 semapv:UnspecifiedMatching +OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:RAD23A semapv:UnspecifiedMatching +OMIM:600061 RAD23A skos:exactMatch ncbigene:5886 semapv:UnspecifiedMatching +OMIM:600062 RAD23B skos:exactMatch UMLS:C1419237 semapv:UnspecifiedMatching +OMIM:600062 RAD23B skos:exactMatch hgnc.symbol:9813 semapv:UnspecifiedMatching +OMIM:600062 RAD23B skos:exactMatch hgnc.symbol:RAD23B semapv:UnspecifiedMatching +OMIM:600062 RAD23B skos:exactMatch ncbigene:5887 semapv:UnspecifiedMatching +OMIM:600063 TROVE2 skos:exactMatch hgnc.symbol:11313 semapv:UnspecifiedMatching +OMIM:600063 TROVE2 skos:exactMatch hgnc.symbol:RO60 semapv:UnspecifiedMatching +OMIM:600063 TROVE2 skos:exactMatch ncbigene:6738 semapv:UnspecifiedMatching +OMIM:600064 KRTAP11-1 skos:exactMatch hgnc.symbol:18922 semapv:UnspecifiedMatching +OMIM:600064 KRTAP11-1 skos:exactMatch hgnc.symbol:KRTAP11-1 semapv:UnspecifiedMatching +OMIM:600064 KRTAP11-1 skos:exactMatch ncbigene:337880 semapv:UnspecifiedMatching +OMIM:600065 ITGB2 skos:exactMatch hgnc.symbol:6155 semapv:UnspecifiedMatching +OMIM:600065 ITGB2 skos:exactMatch hgnc.symbol:ITGB2 semapv:UnspecifiedMatching +OMIM:600065 ITGB2 skos:exactMatch ncbigene:3689 semapv:UnspecifiedMatching +OMIM:600066 EPHA6 skos:exactMatch hgnc.symbol:19296 semapv:UnspecifiedMatching +OMIM:600066 EPHA6 skos:exactMatch hgnc.symbol:EPHA6 semapv:UnspecifiedMatching +OMIM:600066 EPHA6 skos:exactMatch ncbigene:285220 semapv:UnspecifiedMatching +OMIM:600067 UGT2B4 skos:exactMatch hgnc.symbol:12553 semapv:UnspecifiedMatching +OMIM:600067 UGT2B4 skos:exactMatch hgnc.symbol:UGT2B4 semapv:UnspecifiedMatching +OMIM:600067 UGT2B4 skos:exactMatch ncbigene:7363 semapv:UnspecifiedMatching +OMIM:600068 UGT2B7 skos:exactMatch hgnc.symbol:12554 semapv:UnspecifiedMatching +OMIM:600068 UGT2B7 skos:exactMatch hgnc.symbol:UGT2B7 semapv:UnspecifiedMatching +OMIM:600068 UGT2B7 skos:exactMatch ncbigene:7364 semapv:UnspecifiedMatching +OMIM:600069 UGT2B15 skos:exactMatch hgnc.symbol:12546 semapv:UnspecifiedMatching +OMIM:600069 UGT2B15 skos:exactMatch hgnc.symbol:UGT2B15 semapv:UnspecifiedMatching +OMIM:600069 UGT2B15 skos:exactMatch ncbigene:7366 semapv:UnspecifiedMatching +OMIM:600070 UGT2B10 skos:exactMatch hgnc.symbol:12544 semapv:UnspecifiedMatching +OMIM:600070 UGT2B10 skos:exactMatch hgnc.symbol:UGT2B10 semapv:UnspecifiedMatching +OMIM:600070 UGT2B10 skos:exactMatch ncbigene:7365 semapv:UnspecifiedMatching +OMIM:600072 fatal familial insomnia skos:exactMatch MONDO:0010808 semapv:UnspecifiedMatching +OMIM:600073 LRP2 skos:exactMatch hgnc.symbol:6694 semapv:UnspecifiedMatching +OMIM:600073 LRP2 skos:exactMatch hgnc.symbol:LRP2 semapv:UnspecifiedMatching +OMIM:600073 LRP2 skos:exactMatch ncbigene:4036 semapv:UnspecifiedMatching +OMIM:600074 CD24 skos:exactMatch hgnc.symbol:1645 semapv:UnspecifiedMatching +OMIM:600074 CD24 skos:exactMatch hgnc.symbol:CD24 semapv:UnspecifiedMatching +OMIM:600074 CD24 skos:exactMatch ncbigene:100133941 semapv:UnspecifiedMatching +OMIM:600075 TBP skos:exactMatch hgnc.symbol:11588 semapv:UnspecifiedMatching +OMIM:600075 TBP skos:exactMatch hgnc.symbol:TBP semapv:UnspecifiedMatching +OMIM:600075 TBP skos:exactMatch ncbigene:6908 semapv:UnspecifiedMatching +OMIM:600076 TNS1 skos:exactMatch hgnc.symbol:11973 semapv:UnspecifiedMatching +OMIM:600076 TNS1 skos:exactMatch hgnc.symbol:TNS1 semapv:UnspecifiedMatching +OMIM:600076 TNS1 skos:exactMatch ncbigene:7145 semapv:UnspecifiedMatching +OMIM:600079 PTPN12 skos:exactMatch hgnc.symbol:9645 semapv:UnspecifiedMatching +OMIM:600079 PTPN12 skos:exactMatch hgnc.symbol:PTPN12 semapv:UnspecifiedMatching +OMIM:600079 PTPN12 skos:exactMatch ncbigene:5782 semapv:UnspecifiedMatching +OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic skos:exactMatch MONDO:0010809 semapv:UnspecifiedMatching +OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch MONDO:0010810 semapv:UnspecifiedMatching +OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching +OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching +OMIM:600082 prostatic hyperplasia, benign skos:exactMatch MONDO:0010811 semapv:UnspecifiedMatching +OMIM:600084 macrocytosis, familial skos:exactMatch MONDO:0010812 semapv:UnspecifiedMatching +OMIM:600085 SYK skos:exactMatch hgnc.symbol:11491 semapv:UnspecifiedMatching +OMIM:600085 SYK skos:exactMatch hgnc.symbol:SYK semapv:UnspecifiedMatching +OMIM:600085 SYK skos:exactMatch ncbigene:6850 semapv:UnspecifiedMatching +OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:256 semapv:UnspecifiedMatching +OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:ADH7 semapv:UnspecifiedMatching +OMIM:600086 ADH7 skos:exactMatch ncbigene:131 semapv:UnspecifiedMatching +OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:12422 semapv:UnspecifiedMatching +OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:TUFT1 semapv:UnspecifiedMatching +OMIM:600087 TUFT1 skos:exactMatch ncbigene:7286 semapv:UnspecifiedMatching +OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch MONDO:0010813 semapv:UnspecifiedMatching +OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch MONDO:0010814 semapv:UnspecifiedMatching +OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching +OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching +OMIM:600093 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch MONDO:0010815 semapv:UnspecifiedMatching +OMIM:600096 puerto rican infant hypotonia syndrome skos:exactMatch MONDO:0010816 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch UMLS:C1335647 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch UMLS:C5231432 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:17271 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:RRAS2 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch ncbigene:22800 semapv:UnspecifiedMatching +OMIM:600101 deafness, autosomal dominant 2a skos:exactMatch MONDO:0010817 semapv:UnspecifiedMatching +OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:11512 semapv:UnspecifiedMatching +OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:SYT4 semapv:UnspecifiedMatching +OMIM:600103 SYT4 skos:exactMatch ncbigene:6860 semapv:UnspecifiedMatching +OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:11510 semapv:UnspecifiedMatching +OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:SYT2 semapv:UnspecifiedMatching +OMIM:600104 SYT2 skos:exactMatch ncbigene:127833 semapv:UnspecifiedMatching +OMIM:600105 retinitis pigmentosa 12 skos:exactMatch MONDO:0010818 semapv:UnspecifiedMatching +OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:6076 semapv:UnspecifiedMatching +OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:INPP5A semapv:UnspecifiedMatching +OMIM:600106 INPP5A skos:exactMatch ncbigene:3632 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch UMLS:C0432225 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch UMLS:C1417202 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch UMLS:C4016643 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch hgnc.symbol:7159 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch hgnc.symbol:MMP13 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch ncbigene:4322 semapv:UnspecifiedMatching +OMIM:600110 stargardt disease 3 skos:exactMatch MONDO:0010819 semapv:UnspecifiedMatching +OMIM:600111 SLC1A3 skos:exactMatch hgnc.symbol:10941 semapv:UnspecifiedMatching +OMIM:600111 SLC1A3 skos:exactMatch hgnc.symbol:SLC1A3 semapv:UnspecifiedMatching +OMIM:600111 SLC1A3 skos:exactMatch ncbigene:6507 semapv:UnspecifiedMatching +OMIM:600112 DYNC1H1 skos:exactMatch hgnc.symbol:2961 semapv:UnspecifiedMatching +OMIM:600112 DYNC1H1 skos:exactMatch hgnc.symbol:DYNC1H1 semapv:UnspecifiedMatching +OMIM:600112 DYNC1H1 skos:exactMatch ncbigene:1778 semapv:UnspecifiedMatching +OMIM:600114 CCT3 skos:exactMatch hgnc.symbol:1616 semapv:UnspecifiedMatching +OMIM:600114 CCT3 skos:exactMatch hgnc.symbol:CCT3 semapv:UnspecifiedMatching +OMIM:600114 CCT3 skos:exactMatch ncbigene:7203 semapv:UnspecifiedMatching +OMIM:600116 parkinson disease 2, autosomal recessive juvenile skos:exactMatch MONDO:0010820 semapv:UnspecifiedMatching +OMIM:600117 dysphasia, familial developmental skos:exactMatch MONDO:0010821 semapv:UnspecifiedMatching +OMIM:600118 warburg micro syndrome 1 skos:exactMatch MONDO:0010822 semapv:UnspecifiedMatching +OMIM:600119 SGCA skos:exactMatch hgnc.symbol:10805 semapv:UnspecifiedMatching +OMIM:600119 SGCA skos:exactMatch hgnc.symbol:SGCA semapv:UnspecifiedMatching +OMIM:600119 SGCA skos:exactMatch ncbigene:6442 semapv:UnspecifiedMatching +OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 skos:exactMatch MONDO:0010823 semapv:UnspecifiedMatching +OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia skos:exactMatch MONDO:0010824 semapv:UnspecifiedMatching +OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch MONDO:0010825 semapv:UnspecifiedMatching +OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch Orphanet:1352 semapv:UnspecifiedMatching +OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch UMLS:C1838606 semapv:UnspecifiedMatching +OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:5033 semapv:UnspecifiedMatching +OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:HNRNPA2B1 semapv:UnspecifiedMatching +OMIM:600124 HNRNPA2B1 skos:exactMatch ncbigene:3181 semapv:UnspecifiedMatching +OMIM:600126 PDE4A skos:exactMatch UMLS:C1418420 semapv:UnspecifiedMatching +OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:8780 semapv:UnspecifiedMatching +OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:PDE4A semapv:UnspecifiedMatching +OMIM:600126 PDE4A skos:exactMatch ncbigene:5141 semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch UMLS:C1418421 semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:8781 semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:PDE4B semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch ncbigene:5142 semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch UMLS:C1418422 semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:8782 semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:PDE4C semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch ncbigene:5143 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C1418423 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C4016646 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C4016647 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch UMLS:C4016648 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:8783 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:PDE4D semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch ncbigene:5144 semapv:UnspecifiedMatching +OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:604 semapv:UnspecifiedMatching +OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:APOBEC1 semapv:UnspecifiedMatching +OMIM:600130 APOBEC1 skos:exactMatch ncbigene:339 semapv:UnspecifiedMatching +OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch MONDO:0020759 semapv:UnspecifiedMatching +OMIM:600132 retinitis pigmentosa 14 skos:exactMatch MONDO:0010827 semapv:UnspecifiedMatching +OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:6484 semapv:UnspecifiedMatching +OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:LAMA4 semapv:UnspecifiedMatching +OMIM:600133 LAMA4 skos:exactMatch ncbigene:3910 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch UMLS:C1429080 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:31108 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:CTXN1 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch ncbigene:404217 semapv:UnspecifiedMatching +OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:6861 semapv:UnspecifiedMatching +OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:MAP3K9 semapv:UnspecifiedMatching +OMIM:600136 MAP3K9 skos:exactMatch ncbigene:4293 semapv:UnspecifiedMatching +OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:6849 semapv:UnspecifiedMatching +OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:MAP3K10 semapv:UnspecifiedMatching +OMIM:600137 MAP3K10 skos:exactMatch ncbigene:4294 semapv:UnspecifiedMatching +OMIM:600138 retinitis pigmentosa 11 skos:exactMatch MONDO:0010828 semapv:UnspecifiedMatching +OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:2348 semapv:UnspecifiedMatching +OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:CREBBP semapv:UnspecifiedMatching +OMIM:600140 CREBBP skos:exactMatch ncbigene:1387 semapv:UnspecifiedMatching +OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:5269 semapv:UnspecifiedMatching +OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:HSPE1 semapv:UnspecifiedMatching +OMIM:600141 HSPE1 skos:exactMatch ncbigene:3336 semapv:UnspecifiedMatching +OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 semapv:UnspecifiedMatching +OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch Orphanet:199354 semapv:UnspecifiedMatching +OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch MONDO:0010830 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching +OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:6181 semapv:UnspecifiedMatching +OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:ITPR2 semapv:UnspecifiedMatching +OMIM:600144 ITPR2 skos:exactMatch ncbigene:3709 semapv:UnspecifiedMatching +OMIM:600145 sacral defect with anterior meningocele skos:exactMatch MONDO:0010831 semapv:UnspecifiedMatching +OMIM:600146 skos:exactMatch MONDO:0020668 semapv:UnspecifiedMatching +OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:7013 semapv:UnspecifiedMatching +OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:MEOX1 semapv:UnspecifiedMatching +OMIM:600147 MEOX1 skos:exactMatch ncbigene:4222 semapv:UnspecifiedMatching +OMIM:600148 GK2 skos:exactMatch hgnc.symbol:4291 semapv:UnspecifiedMatching +OMIM:600148 GK2 skos:exactMatch hgnc.symbol:GK2 semapv:UnspecifiedMatching +OMIM:600148 GK2 skos:exactMatch ncbigene:2712 semapv:UnspecifiedMatching +OMIM:600149 glycerol kinase 3 pseudogene skos:exactMatch hgnc.symbol:GK3 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1416602 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1836173 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4539985 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4540548 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:6284 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:KCNMA1 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch ncbigene:3778 semapv:UnspecifiedMatching +OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch MONDO:0010832 semapv:UnspecifiedMatching +OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching +OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching +OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:10697 semapv:UnspecifiedMatching +OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:SEC13 semapv:UnspecifiedMatching +OMIM:600152 SEC13 skos:exactMatch ncbigene:6396 semapv:UnspecifiedMatching +OMIM:600153 PIGF skos:exactMatch hgnc.symbol:8962 semapv:UnspecifiedMatching +OMIM:600153 PIGF skos:exactMatch hgnc.symbol:PIGF semapv:UnspecifiedMatching +OMIM:600153 PIGF skos:exactMatch ncbigene:5281 semapv:UnspecifiedMatching +OMIM:600154 PIGH skos:exactMatch hgnc.symbol:8964 semapv:UnspecifiedMatching +OMIM:600154 PIGH skos:exactMatch hgnc.symbol:PIGH semapv:UnspecifiedMatching +OMIM:600154 PIGH skos:exactMatch ncbigene:5283 semapv:UnspecifiedMatching +OMIM:600155 hirschsprung disease, susceptibility to, 2 skos:exactMatch MONDO:0010833 semapv:UnspecifiedMatching +OMIM:600156 hirschsprung disease, susceptibility to, 5 skos:exactMatch MONDO:0010834 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch UMLS:C1412434 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:554 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:AP1B1 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch ncbigene:162 semapv:UnspecifiedMatching +OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies skos:exactMatch MONDO:0010835 semapv:UnspecifiedMatching +OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:1787 semapv:UnspecifiedMatching +OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:CDKN2A semapv:UnspecifiedMatching +OMIM:600160 CDKN2A skos:exactMatch ncbigene:1029 semapv:UnspecifiedMatching +OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:30089 semapv:UnspecifiedMatching +OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:PWAR1 semapv:UnspecifiedMatching +OMIM:600161 PWAR1 skos:exactMatch ncbigene:145624 semapv:UnspecifiedMatching +OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:30090 semapv:UnspecifiedMatching +OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:PWAR5 semapv:UnspecifiedMatching +OMIM:600162 PWAR5 skos:exactMatch ncbigene:8123 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C0038644 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C0428908 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1419864 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1832680 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1837845 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1838527 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1859062 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1861983 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1861984 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C1879286 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C2751898 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C3276240 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C3276241 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C4016652 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch UMLS:C4551804 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:10593 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:SCN5A semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch ncbigene:6331 semapv:UnspecifiedMatching +OMIM:600164 GEM skos:exactMatch hgnc.symbol:4234 semapv:UnspecifiedMatching +OMIM:600164 GEM skos:exactMatch hgnc.symbol:GEM semapv:UnspecifiedMatching +OMIM:600164 GEM skos:exactMatch ncbigene:2669 semapv:UnspecifiedMatching +OMIM:600165 nanophthalmos 1 skos:exactMatch MONDO:0010836 semapv:UnspecifiedMatching +OMIM:600166 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch MONDO:0044350 semapv:UnspecifiedMatching +OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:5182 semapv:UnspecifiedMatching +OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:HRH1 semapv:UnspecifiedMatching +OMIM:600167 HRH1 skos:exactMatch ncbigene:3269 semapv:UnspecifiedMatching +OMIM:600168 MST1R skos:exactMatch hgnc.symbol:7381 semapv:UnspecifiedMatching +OMIM:600168 MST1R skos:exactMatch hgnc.symbol:MST1R semapv:UnspecifiedMatching +OMIM:600168 MST1R skos:exactMatch ncbigene:4486 semapv:UnspecifiedMatching +OMIM:600169 MICA skos:exactMatch hgnc.symbol:7090 semapv:UnspecifiedMatching +OMIM:600169 MICA skos:exactMatch hgnc.symbol:MICA semapv:UnspecifiedMatching +OMIM:600169 MICA skos:exactMatch ncbigene:100507436 semapv:UnspecifiedMatching +OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:636 semapv:UnspecifiedMatching +OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:AQP3 semapv:UnspecifiedMatching +OMIM:600170 AQP3 skos:exactMatch ncbigene:360 semapv:UnspecifiedMatching +OMIM:600171 gonadal agenesis skos:exactMatch MONDO:0010838 semapv:UnspecifiedMatching +OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:7428 semapv:UnspecifiedMatching +OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:MTF1 semapv:UnspecifiedMatching +OMIM:600172 MTF1 skos:exactMatch ncbigene:4520 semapv:UnspecifiedMatching +OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:6193 semapv:UnspecifiedMatching +OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:JAK3 semapv:UnspecifiedMatching +OMIM:600173 JAK3 skos:exactMatch ncbigene:3718 semapv:UnspecifiedMatching +OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:9001 semapv:UnspecifiedMatching +OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:PITPNA semapv:UnspecifiedMatching +OMIM:600174 PITPNA skos:exactMatch ncbigene:5306 semapv:UnspecifiedMatching +OMIM:600175 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch MONDO:0010839 semapv:UnspecifiedMatching +OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts skos:exactMatch MONDO:0010840 semapv:UnspecifiedMatching +OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:6835 semapv:UnspecifiedMatching +OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:MAP1A semapv:UnspecifiedMatching +OMIM:600178 MAP1A skos:exactMatch ncbigene:4130 semapv:UnspecifiedMatching +OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:4689 semapv:UnspecifiedMatching +OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:GUCY2D semapv:UnspecifiedMatching +OMIM:600179 GUCY2D skos:exactMatch ncbigene:3000 semapv:UnspecifiedMatching +OMIM:600181 LCN2 skos:exactMatch UMLS:C1416806 semapv:UnspecifiedMatching +OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:6526 semapv:UnspecifiedMatching +OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:LCN2 semapv:UnspecifiedMatching +OMIM:600181 LCN2 skos:exactMatch ncbigene:3934 semapv:UnspecifiedMatching +OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:11063 semapv:UnspecifiedMatching +OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:SLC7A5 semapv:UnspecifiedMatching +OMIM:600182 SLC7A5 skos:exactMatch ncbigene:8140 semapv:UnspecifiedMatching +OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:3069 semapv:UnspecifiedMatching +OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:DUSP3 semapv:UnspecifiedMatching +OMIM:600183 DUSP3 skos:exactMatch ncbigene:1845 semapv:UnspecifiedMatching +OMIM:600184 CRAT skos:exactMatch hgnc.symbol:2342 semapv:UnspecifiedMatching +OMIM:600184 CRAT skos:exactMatch hgnc.symbol:CRAT semapv:UnspecifiedMatching +OMIM:600184 CRAT skos:exactMatch ncbigene:1384 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C0598034 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C2675520 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C2751641 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C3150546 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:1101 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:BRCA2 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch ncbigene:675 semapv:UnspecifiedMatching +OMIM:600187 EIF5A skos:exactMatch hgnc.symbol:3300 semapv:UnspecifiedMatching +OMIM:600187 EIF5A skos:exactMatch hgnc.symbol:EIF5A semapv:UnspecifiedMatching +OMIM:600187 EIF5A skos:exactMatch ncbigene:1984 semapv:UnspecifiedMatching +OMIM:600188 TLE5 skos:exactMatch UMLS:C1412268 semapv:UnspecifiedMatching +OMIM:600188 TLE5 skos:exactMatch hgnc.symbol:307 semapv:UnspecifiedMatching +OMIM:600188 TLE5 skos:exactMatch hgnc.symbol:TLE5 semapv:UnspecifiedMatching +OMIM:600188 TLE5 skos:exactMatch ncbigene:166 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch UMLS:C1420752 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:11837 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:TLE1 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch ncbigene:7088 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch UMLS:C1420754 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:11839 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:TLE3 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch ncbigene:7090 semapv:UnspecifiedMatching +OMIM:600192 SS18 skos:exactMatch hgnc.symbol:11340 semapv:UnspecifiedMatching +OMIM:600192 SS18 skos:exactMatch hgnc.symbol:SS18 semapv:UnspecifiedMatching +OMIM:600192 SS18 skos:exactMatch ncbigene:6760 semapv:UnspecifiedMatching +OMIM:600193 waardenburg syndrome, iia 2b skos:exactMatch MONDO:0010841 semapv:UnspecifiedMatching +OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:6439 semapv:UnspecifiedMatching +OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:KRT2 semapv:UnspecifiedMatching +OMIM:600194 KRT2 skos:exactMatch ncbigene:3849 semapv:UnspecifiedMatching +OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch MONDO:0010842 semapv:UnspecifiedMatching +OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch Orphanet:2451 semapv:UnspecifiedMatching +OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch UMLS:C1838437 semapv:UnspecifiedMatching +OMIM:600197 MAFK skos:exactMatch UMLS:C1416968 semapv:UnspecifiedMatching +OMIM:600197 MAFK skos:exactMatch hgnc.symbol:6782 semapv:UnspecifiedMatching +OMIM:600197 MAFK skos:exactMatch hgnc.symbol:MAFK semapv:UnspecifiedMatching +OMIM:600197 MAFK skos:exactMatch ncbigene:7975 semapv:UnspecifiedMatching +OMIM:600201 ASIP skos:exactMatch hgnc.symbol:745 semapv:UnspecifiedMatching +OMIM:600201 ASIP skos:exactMatch hgnc.symbol:ASIP semapv:UnspecifiedMatching +OMIM:600201 ASIP skos:exactMatch ncbigene:434 semapv:UnspecifiedMatching +OMIM:600202 dyslexia, susceptibility to, 2 skos:exactMatch MONDO:0010843 semapv:UnspecifiedMatching +OMIM:600202 dyslexia, susceptibility to, 2 skos:exactMatch UMLS:C1838436 semapv:UnspecifiedMatching +OMIM:600204 epiphyseal dysplasia, multiple, 2 skos:exactMatch MONDO:0010844 semapv:UnspecifiedMatching +OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:3420 semapv:UnspecifiedMatching +OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:EPS8 semapv:UnspecifiedMatching +OMIM:600206 EPS8 skos:exactMatch ncbigene:2059 semapv:UnspecifiedMatching +OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:5145 semapv:UnspecifiedMatching +OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:HPCAL1 semapv:UnspecifiedMatching +OMIM:600207 HPCAL1 skos:exactMatch ncbigene:3241 semapv:UnspecifiedMatching +OMIM:600209 exostoses, multiple, iia 3 skos:exactMatch MONDO:0010846 semapv:UnspecifiedMatching +OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:10473 semapv:UnspecifiedMatching +OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:RUNX3 semapv:UnspecifiedMatching +OMIM:600210 RUNX3 skos:exactMatch ncbigene:864 semapv:UnspecifiedMatching +OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:10472 semapv:UnspecifiedMatching +OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:RUNX2 semapv:UnspecifiedMatching +OMIM:600211 RUNX2 skos:exactMatch ncbigene:860 semapv:UnspecifiedMatching +OMIM:600212 FASN skos:exactMatch hgnc.symbol:3594 semapv:UnspecifiedMatching +OMIM:600212 FASN skos:exactMatch hgnc.symbol:FASN semapv:UnspecifiedMatching +OMIM:600212 FASN skos:exactMatch ncbigene:2194 semapv:UnspecifiedMatching +OMIM:600214 AGER skos:exactMatch hgnc.symbol:320 semapv:UnspecifiedMatching +OMIM:600214 AGER skos:exactMatch hgnc.symbol:AGER semapv:UnspecifiedMatching +OMIM:600214 AGER skos:exactMatch ncbigene:177 semapv:UnspecifiedMatching +OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:7032 semapv:UnspecifiedMatching +OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:MFAP1 semapv:UnspecifiedMatching +OMIM:600215 MFAP1 skos:exactMatch ncbigene:4236 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch UMLS:C1335226 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch UMLS:C3280914 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch hgnc.symbol:9066 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch hgnc.symbol:PLCG2 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch ncbigene:5336 semapv:UnspecifiedMatching +OMIM:600221 TEK skos:exactMatch hgnc.symbol:11724 semapv:UnspecifiedMatching +OMIM:600221 TEK skos:exactMatch hgnc.symbol:TEK semapv:UnspecifiedMatching +OMIM:600221 TEK skos:exactMatch ncbigene:7010 semapv:UnspecifiedMatching +OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:11809 semapv:UnspecifiedMatching +OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:TIE1 semapv:UnspecifiedMatching +OMIM:600222 TIE1 skos:exactMatch ncbigene:7075 semapv:UnspecifiedMatching +OMIM:600223 spinocerebellar ataxia 4 skos:exactMatch MONDO:0010847 semapv:UnspecifiedMatching +OMIM:600224 spinocerebellar ataxia 5 skos:exactMatch MONDO:0010848 semapv:UnspecifiedMatching +OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:4193 semapv:UnspecifiedMatching +OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:GCH1 semapv:UnspecifiedMatching +OMIM:600225 GCH1 skos:exactMatch ncbigene:2643 semapv:UnspecifiedMatching +OMIM:600227 CCNF skos:exactMatch hgnc.symbol:1591 semapv:UnspecifiedMatching +OMIM:600227 CCNF skos:exactMatch hgnc.symbol:CCNF semapv:UnspecifiedMatching +OMIM:600227 CCNF skos:exactMatch ncbigene:899 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C1419868 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch UMLS:C4748292 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:10599 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:SCNN1A semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch ncbigene:6337 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch UMLS:C1420122 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:10942 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:SLC1A4 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch ncbigene:6509 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch UMLS:C1335225 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:9056 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:PLCB3 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch ncbigene:5331 semapv:UnspecifiedMatching +OMIM:600231 palmoplantar keratoderma, bothnian iia skos:exactMatch MONDO:0010849 semapv:UnspecifiedMatching +OMIM:600232 GABRB2 skos:exactMatch hgnc.symbol:4082 semapv:UnspecifiedMatching +OMIM:600232 GABRB2 skos:exactMatch hgnc.symbol:GABRB2 semapv:UnspecifiedMatching +OMIM:600232 GABRB2 skos:exactMatch ncbigene:2561 semapv:UnspecifiedMatching +OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:4088 semapv:UnspecifiedMatching +OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:GABRG3 semapv:UnspecifiedMatching +OMIM:600233 GABRG3 skos:exactMatch ncbigene:2567 semapv:UnspecifiedMatching +OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:5008 semapv:UnspecifiedMatching +OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:HMGCS2 semapv:UnspecifiedMatching +OMIM:600234 HMGCS2 skos:exactMatch ncbigene:3158 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch UMLS:C1419857 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch UMLS:C2748541 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch UMLS:C3809311 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:10586 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:SCN1B semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch ncbigene:6324 semapv:UnspecifiedMatching +OMIM:600236 CENPF skos:exactMatch hgnc.symbol:1857 semapv:UnspecifiedMatching +OMIM:600236 CENPF skos:exactMatch hgnc.symbol:CENPF semapv:UnspecifiedMatching +OMIM:600236 CENPF skos:exactMatch ncbigene:1063 semapv:UnspecifiedMatching +OMIM:600237 HIRA skos:exactMatch UMLS:C1415549 semapv:UnspecifiedMatching +OMIM:600237 HIRA skos:exactMatch hgnc.symbol:4916 semapv:UnspecifiedMatching +OMIM:600237 HIRA skos:exactMatch hgnc.symbol:HIRA semapv:UnspecifiedMatching +OMIM:600237 HIRA skos:exactMatch ncbigene:7290 semapv:UnspecifiedMatching +OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:11779 semapv:UnspecifiedMatching +OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:TGM3 semapv:UnspecifiedMatching +OMIM:600238 TGM3 skos:exactMatch ncbigene:7053 semapv:UnspecifiedMatching +OMIM:600239 CMKLR2 skos:exactMatch hgnc.symbol:4463 semapv:UnspecifiedMatching +OMIM:600239 CMKLR2 skos:exactMatch hgnc.symbol:CMKLR2 semapv:UnspecifiedMatching +OMIM:600239 CMKLR2 skos:exactMatch ncbigene:2825 semapv:UnspecifiedMatching +OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:4474 semapv:UnspecifiedMatching +OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:CCR10 semapv:UnspecifiedMatching +OMIM:600240 CCR10 skos:exactMatch ncbigene:2826 semapv:UnspecifiedMatching +OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:4484 semapv:UnspecifiedMatching +OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:GPR3 semapv:UnspecifiedMatching +OMIM:600241 GPR3 skos:exactMatch ncbigene:2827 semapv:UnspecifiedMatching +OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:1608 semapv:UnspecifiedMatching +OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:CCR7 semapv:UnspecifiedMatching +OMIM:600242 CCR7 skos:exactMatch ncbigene:1236 semapv:UnspecifiedMatching +OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:2664 semapv:UnspecifiedMatching +OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:DAD1 semapv:UnspecifiedMatching +OMIM:600243 DAD1 skos:exactMatch ncbigene:1603 semapv:UnspecifiedMatching +OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:8760 semapv:UnspecifiedMatching +OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:PDCD1 semapv:UnspecifiedMatching +OMIM:600244 PDCD1 skos:exactMatch ncbigene:5133 semapv:UnspecifiedMatching +OMIM:600245 FMOD skos:exactMatch hgnc.symbol:3774 semapv:UnspecifiedMatching +OMIM:600245 FMOD skos:exactMatch hgnc.symbol:FMOD semapv:UnspecifiedMatching +OMIM:600245 FMOD skos:exactMatch ncbigene:2331 semapv:UnspecifiedMatching +OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:3326 semapv:UnspecifiedMatching +OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:ELK4 semapv:UnspecifiedMatching +OMIM:600246 ELK4 skos:exactMatch ncbigene:2005 semapv:UnspecifiedMatching +OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:3325 semapv:UnspecifiedMatching +OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:ELK3 semapv:UnspecifiedMatching +OMIM:600247 ELK3 skos:exactMatch ncbigene:2004 semapv:UnspecifiedMatching +OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:3978 semapv:UnspecifiedMatching +OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:ALDH1L1 semapv:UnspecifiedMatching +OMIM:600249 ALDH1L1 skos:exactMatch ncbigene:10840 semapv:UnspecifiedMatching +OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:10645 semapv:UnspecifiedMatching +OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:XCL1 semapv:UnspecifiedMatching +OMIM:600250 XCL1 skos:exactMatch ncbigene:6375 semapv:UnspecifiedMatching +OMIM:600251 facial clefting, oblique, 1 skos:exactMatch MONDO:0010850 semapv:UnspecifiedMatching +OMIM:600252 lowry-maclean syndrome skos:exactMatch MONDO:0010851 semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch UMLS:C0596123 semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch UMLS:C5193041 semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch hgnc.symbol:348 semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch hgnc.symbol:AHR semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch ncbigene:196 semapv:UnspecifiedMatching +OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome skos:exactMatch MONDO:0010852 semapv:UnspecifiedMatching +OMIM:600258 PMS1 skos:exactMatch hgnc.symbol:9121 semapv:UnspecifiedMatching +OMIM:600258 PMS1 skos:exactMatch hgnc.symbol:PMS1 semapv:UnspecifiedMatching +OMIM:600258 PMS1 skos:exactMatch ncbigene:5378 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch UMLS:C0879391 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch UMLS:C1838333 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:9122 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:PMS2 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch ncbigene:5395 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch UMLS:C1367485 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:9605 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:PTGS2 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch ncbigene:5743 semapv:UnspecifiedMatching +OMIM:600263 helicobacter pylori infection, susceptibility to skos:exactMatch MONDO:0010853 semapv:UnspecifiedMatching +OMIM:600263 helicobacter pylori infection, susceptibility to skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching +OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:896 semapv:UnspecifiedMatching +OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:AVPR1B semapv:UnspecifiedMatching +OMIM:600264 AVPR1B skos:exactMatch ncbigene:553 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1420088 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1864868 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch UMLS:C2936833 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:10907 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:SLC11A1 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch ncbigene:6556 semapv:UnspecifiedMatching +OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:9646 semapv:UnspecifiedMatching +OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:PTPN13 semapv:UnspecifiedMatching +OMIM:600267 PTPN13 skos:exactMatch ncbigene:5783 semapv:UnspecifiedMatching +OMIM:600268 oculoectodermal syndrome skos:exactMatch MONDO:0010854 semapv:UnspecifiedMatching +OMIM:600268 oculoectodermal syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching +OMIM:600268 oculoectodermal syndrome skos:exactMatch UMLS:C1838329 semapv:UnspecifiedMatching +OMIM:600269 short tarsus with absence of lower eyelashes skos:exactMatch MONDO:0010855 semapv:UnspecifiedMatching +OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:8738 semapv:UnspecifiedMatching +OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:PCOLCE semapv:UnspecifiedMatching +OMIM:600270 PCOLCE skos:exactMatch ncbigene:5118 semapv:UnspecifiedMatching +OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:3037 semapv:UnspecifiedMatching +OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:DSC3 semapv:UnspecifiedMatching +OMIM:600271 DSC3 skos:exactMatch ncbigene:1825 semapv:UnspecifiedMatching +OMIM:600272 COIL skos:exactMatch hgnc.symbol:2184 semapv:UnspecifiedMatching +OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching +OMIM:600272 COIL skos:exactMatch ncbigene:8161 semapv:UnspecifiedMatching +OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis skos:exactMatch MONDO:0010856 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch MONDO:0010857 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching +OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:7882 semapv:UnspecifiedMatching +OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:NOTCH2 semapv:UnspecifiedMatching +OMIM:600275 NOTCH2 skos:exactMatch ncbigene:4853 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1417768 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1851710 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch UMLS:C3809084 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:7883 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:NOTCH3 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch ncbigene:4854 semapv:UnspecifiedMatching +OMIM:600277 ID3 skos:exactMatch hgnc.symbol:5362 semapv:UnspecifiedMatching +OMIM:600277 ID3 skos:exactMatch hgnc.symbol:ID3 semapv:UnspecifiedMatching +OMIM:600277 ID3 skos:exactMatch ncbigene:3399 semapv:UnspecifiedMatching +OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:9858 semapv:UnspecifiedMatching +OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:RAP1GAP semapv:UnspecifiedMatching +OMIM:600278 RAP1GAP skos:exactMatch ncbigene:5909 semapv:UnspecifiedMatching +OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:9713 semapv:UnspecifiedMatching +OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:PEX19 semapv:UnspecifiedMatching +OMIM:600279 PEX19 skos:exactMatch ncbigene:5824 semapv:UnspecifiedMatching +OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:8041 semapv:UnspecifiedMatching +OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:NUBP1 semapv:UnspecifiedMatching +OMIM:600280 NUBP1 skos:exactMatch ncbigene:4682 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch UMLS:C1415629 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch UMLS:C1852093 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch UMLS:C4014962 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:5024 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:HNF4A semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch ncbigene:3172 semapv:UnspecifiedMatching +OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:4582 semapv:UnspecifiedMatching +OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:GRIK4 semapv:UnspecifiedMatching +OMIM:600282 GRIK4 skos:exactMatch ncbigene:2900 semapv:UnspecifiedMatching +OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:4583 semapv:UnspecifiedMatching +OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:GRIK5 semapv:UnspecifiedMatching +OMIM:600283 GRIK5 skos:exactMatch ncbigene:2901 semapv:UnspecifiedMatching +OMIM:600284 ELL skos:exactMatch hgnc.symbol:23114 semapv:UnspecifiedMatching +OMIM:600284 ELL skos:exactMatch hgnc.symbol:ELL semapv:UnspecifiedMatching +OMIM:600284 ELL skos:exactMatch ncbigene:8178 semapv:UnspecifiedMatching +OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:3477 semapv:UnspecifiedMatching +OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:ETF1 semapv:UnspecifiedMatching +OMIM:600285 ETF1 skos:exactMatch ncbigene:2107 semapv:UnspecifiedMatching +OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:8983 semapv:UnspecifiedMatching +OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:PI4KA semapv:UnspecifiedMatching +OMIM:600286 PI4KA skos:exactMatch ncbigene:5297 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch UMLS:C1414988 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:4162 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:GARS1 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch ncbigene:2617 semapv:UnspecifiedMatching +OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:5022 semapv:UnspecifiedMatching +OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:FOXA2 semapv:UnspecifiedMatching +OMIM:600288 FOXA2 skos:exactMatch ncbigene:3170 semapv:UnspecifiedMatching +OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:6876 semapv:UnspecifiedMatching +OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:MAPK14 semapv:UnspecifiedMatching +OMIM:600289 MAPK14 skos:exactMatch ncbigene:1432 semapv:UnspecifiedMatching +OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:234 semapv:UnspecifiedMatching +OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:ADCY3 semapv:UnspecifiedMatching +OMIM:600291 ADCY3 skos:exactMatch ncbigene:109 semapv:UnspecifiedMatching +OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:235 semapv:UnspecifiedMatching +OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:ADCY4 semapv:UnspecifiedMatching +OMIM:600292 ADCY4 skos:exactMatch ncbigene:196883 semapv:UnspecifiedMatching +OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:236 semapv:UnspecifiedMatching +OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:ADCY5 semapv:UnspecifiedMatching +OMIM:600293 ADCY5 skos:exactMatch ncbigene:111 semapv:UnspecifiedMatching +OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:237 semapv:UnspecifiedMatching +OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:ADCY6 semapv:UnspecifiedMatching +OMIM:600294 ADCY6 skos:exactMatch ncbigene:112 semapv:UnspecifiedMatching +OMIM:600295 NPPB skos:exactMatch hgnc.symbol:7940 semapv:UnspecifiedMatching +OMIM:600295 NPPB skos:exactMatch hgnc.symbol:NPPB semapv:UnspecifiedMatching +OMIM:600295 NPPB skos:exactMatch ncbigene:4879 semapv:UnspecifiedMatching +OMIM:600296 NPPC skos:exactMatch hgnc.symbol:7941 semapv:UnspecifiedMatching +OMIM:600296 NPPC skos:exactMatch hgnc.symbol:NPPC semapv:UnspecifiedMatching +OMIM:600296 NPPC skos:exactMatch ncbigene:4880 semapv:UnspecifiedMatching +OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:1806 semapv:UnspecifiedMatching +OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:CDX2 semapv:UnspecifiedMatching +OMIM:600297 CDX2 skos:exactMatch ncbigene:1045 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch UMLS:C1416889 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:6653 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:LMX1A semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch ncbigene:4009 semapv:UnspecifiedMatching +OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:8727 semapv:UnspecifiedMatching +OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:PCM1 semapv:UnspecifiedMatching +OMIM:600299 PCM1 skos:exactMatch ncbigene:5108 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch UMLS:C1420120 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:10940 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:SLC1A2 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch ncbigene:6506 semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch UMLS:C1412109 semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:91 semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:ACADSB semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch ncbigene:36 semapv:UnspecifiedMatching +OMIM:600302 fryns macrocephaly skos:exactMatch MONDO:0010858 semapv:UnspecifiedMatching +OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:4568 semapv:UnspecifiedMatching +OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:RAPGEF1 semapv:UnspecifiedMatching +OMIM:600303 RAPGEF1 skos:exactMatch ncbigene:2889 semapv:UnspecifiedMatching +OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:2703 semapv:UnspecifiedMatching +OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:ECI1 semapv:UnspecifiedMatching +OMIM:600305 ECI1 skos:exactMatch ncbigene:1632 semapv:UnspecifiedMatching +OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:9542 semapv:UnspecifiedMatching +OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:PSMB5 semapv:UnspecifiedMatching +OMIM:600306 PSMB5 skos:exactMatch ncbigene:5693 semapv:UnspecifiedMatching +OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:9543 semapv:UnspecifiedMatching +OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:PSMB6 semapv:UnspecifiedMatching +OMIM:600307 PSMB6 skos:exactMatch ncbigene:5694 semapv:UnspecifiedMatching +OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:637 semapv:UnspecifiedMatching +OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:AQP4 semapv:UnspecifiedMatching +OMIM:600308 AQP4 skos:exactMatch ncbigene:361 semapv:UnspecifiedMatching +OMIM:600309 skos:exactMatch MONDO:0010859 semapv:UnspecifiedMatching +OMIM:600310 COMP skos:exactMatch hgnc.symbol:2227 semapv:UnspecifiedMatching +OMIM:600310 COMP skos:exactMatch hgnc.symbol:COMP semapv:UnspecifiedMatching +OMIM:600310 COMP skos:exactMatch ncbigene:1311 semapv:UnspecifiedMatching +OMIM:600311 GZMM skos:exactMatch hgnc.symbol:4712 semapv:UnspecifiedMatching +OMIM:600311 GZMM skos:exactMatch hgnc.symbol:GZMM semapv:UnspecifiedMatching +OMIM:600311 GZMM skos:exactMatch ncbigene:3004 semapv:UnspecifiedMatching +OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:8048 semapv:UnspecifiedMatching +OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:NUDT1 semapv:UnspecifiedMatching +OMIM:600312 NUDT1 skos:exactMatch ncbigene:4521 semapv:UnspecifiedMatching +OMIM:600314 SHB skos:exactMatch hgnc.symbol:10838 semapv:UnspecifiedMatching +OMIM:600314 SHB skos:exactMatch hgnc.symbol:SHB semapv:UnspecifiedMatching +OMIM:600314 SHB skos:exactMatch ncbigene:6461 semapv:UnspecifiedMatching +OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:11918 semapv:UnspecifiedMatching +OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:TNFRSF4 semapv:UnspecifiedMatching +OMIM:600315 TNFRSF4 skos:exactMatch ncbigene:7293 semapv:UnspecifiedMatching +OMIM:600316 deafness, autosomal recessive 3 skos:exactMatch MONDO:0010860 semapv:UnspecifiedMatching +OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:12013 semapv:UnspecifiedMatching +OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:TPM4 semapv:UnspecifiedMatching +OMIM:600317 TPM4 skos:exactMatch ncbigene:7171 semapv:UnspecifiedMatching +OMIM:600318 iia 1 diabetes mellitus 3 skos:exactMatch MONDO:0010861 semapv:UnspecifiedMatching +OMIM:600318 iia 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching +OMIM:600319 iia 1 diabetes mellitus 4 skos:exactMatch MONDO:0010862 semapv:UnspecifiedMatching +OMIM:600319 iia 1 diabetes mellitus 4 skos:exactMatch UMLS:C1838261 semapv:UnspecifiedMatching +OMIM:600320 iia 1 diabetes mellitus 5 skos:exactMatch MONDO:0010863 semapv:UnspecifiedMatching +OMIM:600320 iia 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching +OMIM:600321 iia 1 diabetes mellitus 7 skos:exactMatch MONDO:0010864 semapv:UnspecifiedMatching +OMIM:600321 iia 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch UMLS:C1420270 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch UMLS:C4225364 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:11132 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:SNAP25 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch ncbigene:6616 semapv:UnspecifiedMatching +OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:9991 semapv:UnspecifiedMatching +OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:RGS1 semapv:UnspecifiedMatching +OMIM:600323 RGS1 skos:exactMatch ncbigene:5996 semapv:UnspecifiedMatching +OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:10642 semapv:UnspecifiedMatching +OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:CXCL5 semapv:UnspecifiedMatching +OMIM:600324 CXCL5 skos:exactMatch ncbigene:6374 semapv:UnspecifiedMatching +OMIM:600325 aminopterin syndrome sine aminopterin skos:exactMatch MONDO:0010865 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch UMLS:C0812257 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:2747 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:DDX6 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch ncbigene:1656 semapv:UnspecifiedMatching +OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:11511 semapv:UnspecifiedMatching +OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:SYT3 semapv:UnspecifiedMatching +OMIM:600327 SYT3 skos:exactMatch ncbigene:84258 semapv:UnspecifiedMatching +OMIM:600328 MLLT6 skos:exactMatch UMLS:C1334517 semapv:UnspecifiedMatching +OMIM:600328 MLLT6 skos:exactMatch hgnc.symbol:7138 semapv:UnspecifiedMatching +OMIM:600328 MLLT6 skos:exactMatch hgnc.symbol:MLLT6 semapv:UnspecifiedMatching +OMIM:600328 MLLT6 skos:exactMatch ncbigene:4302 semapv:UnspecifiedMatching +OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy skos:exactMatch MONDO:0010866 semapv:UnspecifiedMatching +OMIM:600331 parc syndrome skos:exactMatch MONDO:0010867 semapv:UnspecifiedMatching +OMIM:600332 rippling muscle disease 1 skos:exactMatch MONDO:0010868 semapv:UnspecifiedMatching +OMIM:600333 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch MONDO:0010869 semapv:UnspecifiedMatching +OMIM:600334 tibial muscular dystrophy, tardive skos:exactMatch MONDO:0010870 semapv:UnspecifiedMatching +OMIM:600335 succinic acidemia skos:exactMatch MONDO:0010871 semapv:UnspecifiedMatching +OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:10936 semapv:UnspecifiedMatching +OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:SLC18A3 semapv:UnspecifiedMatching +OMIM:600336 SLC18A3 skos:exactMatch ncbigene:6572 semapv:UnspecifiedMatching +OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:1029 semapv:UnspecifiedMatching +OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:BDKRB1 semapv:UnspecifiedMatching +OMIM:600337 BDKRB1 skos:exactMatch ncbigene:623 semapv:UnspecifiedMatching +OMIM:600338 AADAC skos:exactMatch hgnc.symbol:17 semapv:UnspecifiedMatching +OMIM:600338 AADAC skos:exactMatch hgnc.symbol:AADAC semapv:UnspecifiedMatching +OMIM:600338 AADAC skos:exactMatch ncbigene:13 semapv:UnspecifiedMatching +OMIM:600339 HDGF skos:exactMatch hgnc.symbol:4856 semapv:UnspecifiedMatching +OMIM:600339 HDGF skos:exactMatch hgnc.symbol:HDGF semapv:UnspecifiedMatching +OMIM:600339 HDGF skos:exactMatch ncbigene:3068 semapv:UnspecifiedMatching +OMIM:600340 PLLP skos:exactMatch hgnc.symbol:18553 semapv:UnspecifiedMatching +OMIM:600340 PLLP skos:exactMatch hgnc.symbol:PLLP semapv:UnspecifiedMatching +OMIM:600340 PLLP skos:exactMatch ncbigene:51090 semapv:UnspecifiedMatching +OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:12446 semapv:UnspecifiedMatching +OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:TYRO3 semapv:UnspecifiedMatching +OMIM:600341 TYRO3 skos:exactMatch ncbigene:7301 semapv:UnspecifiedMatching +OMIM:600342 RGR skos:exactMatch hgnc.symbol:9990 semapv:UnspecifiedMatching +OMIM:600342 RGR skos:exactMatch hgnc.symbol:RGR semapv:UnspecifiedMatching +OMIM:600342 RGR skos:exactMatch ncbigene:5995 semapv:UnspecifiedMatching +OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of skos:exactMatch MONDO:0010872 semapv:UnspecifiedMatching +OMIM:600345 BTC skos:exactMatch hgnc.symbol:1121 semapv:UnspecifiedMatching +OMIM:600345 BTC skos:exactMatch hgnc.symbol:BTC semapv:UnspecifiedMatching +OMIM:600345 BTC skos:exactMatch ncbigene:685 semapv:UnspecifiedMatching +OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:12929 semapv:UnspecifiedMatching +OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:PCGF2 semapv:UnspecifiedMatching +OMIM:600346 PCGF2 skos:exactMatch ncbigene:7703 semapv:UnspecifiedMatching +OMIM:600347 BCAN skos:exactMatch hgnc.symbol:23059 semapv:UnspecifiedMatching +OMIM:600347 BCAN skos:exactMatch hgnc.symbol:BCAN semapv:UnspecifiedMatching +OMIM:600347 BCAN skos:exactMatch ncbigene:63827 semapv:UnspecifiedMatching +OMIM:600348 band heterotopia skos:exactMatch MONDO:0010873 semapv:UnspecifiedMatching +OMIM:600349 ID1 skos:exactMatch hgnc.symbol:5360 semapv:UnspecifiedMatching +OMIM:600349 ID1 skos:exactMatch hgnc.symbol:ID1 semapv:UnspecifiedMatching +OMIM:600349 ID1 skos:exactMatch ncbigene:3397 semapv:UnspecifiedMatching +OMIM:600351 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency skos:exactMatch MONDO:0010874 semapv:UnspecifiedMatching +OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:10497 semapv:UnspecifiedMatching +OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:S100A7 semapv:UnspecifiedMatching +OMIM:600353 S100A7 skos:exactMatch ncbigene:6278 semapv:UnspecifiedMatching +OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:11117 semapv:UnspecifiedMatching +OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:SMN1 semapv:UnspecifiedMatching +OMIM:600354 SMN1 skos:exactMatch ncbigene:6606 semapv:UnspecifiedMatching +OMIM:600355 NAIP skos:exactMatch hgnc.symbol:7634 semapv:UnspecifiedMatching +OMIM:600355 NAIP skos:exactMatch hgnc.symbol:NAIP semapv:UnspecifiedMatching +OMIM:600355 NAIP skos:exactMatch ncbigene:4671 semapv:UnspecifiedMatching +OMIM:600356 pachydermodactyly, familial skos:exactMatch MONDO:0010875 semapv:UnspecifiedMatching +OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:10441 semapv:UnspecifiedMatching +OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:RPS8 semapv:UnspecifiedMatching +OMIM:600357 RPS8 skos:exactMatch ncbigene:6202 semapv:UnspecifiedMatching +OMIM:600358 GMPS skos:exactMatch hgnc.symbol:4378 semapv:UnspecifiedMatching +OMIM:600358 GMPS skos:exactMatch hgnc.symbol:GMPS semapv:UnspecifiedMatching +OMIM:600358 GMPS skos:exactMatch ncbigene:8833 semapv:UnspecifiedMatching +OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:6255 semapv:UnspecifiedMatching +OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:KCNJ1 semapv:UnspecifiedMatching +OMIM:600359 KCNJ1 skos:exactMatch ncbigene:3758 semapv:UnspecifiedMatching +OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive skos:exactMatch MONDO:0010876 semapv:UnspecifiedMatching +OMIM:600361 hereditary motor and sensory neuropathy 5 skos:exactMatch MONDO:0010877 semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch UMLS:C1414634 semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch hgnc.symbol:3750 semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch hgnc.symbol:FLII semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch ncbigene:2314 semapv:UnspecifiedMatching +OMIM:600363 spastic paraplegia 6, autosomal dominant skos:exactMatch MONDO:0010878 semapv:UnspecifiedMatching +OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:4678 semapv:UnspecifiedMatching +OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:GUCA1A semapv:UnspecifiedMatching +OMIM:600364 GUCA1A skos:exactMatch ncbigene:2978 semapv:UnspecifiedMatching +OMIM:600365 ABR skos:exactMatch hgnc.symbol:81 semapv:UnspecifiedMatching +OMIM:600365 ABR skos:exactMatch hgnc.symbol:ABR semapv:UnspecifiedMatching +OMIM:600365 ABR skos:exactMatch ncbigene:29 semapv:UnspecifiedMatching +OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:6132 semapv:UnspecifiedMatching +OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:ISL1 semapv:UnspecifiedMatching +OMIM:600366 ISL1 skos:exactMatch ncbigene:3670 semapv:UnspecifiedMatching +OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:2485 semapv:UnspecifiedMatching +OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:CSTF3 semapv:UnspecifiedMatching +OMIM:600367 CSTF3 skos:exactMatch ncbigene:1479 semapv:UnspecifiedMatching +OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:2483 semapv:UnspecifiedMatching +OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:CSTF1 semapv:UnspecifiedMatching +OMIM:600369 CSTF1 skos:exactMatch ncbigene:1477 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1420160 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:10989 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:SLC25A3 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch ncbigene:5250 semapv:UnspecifiedMatching +OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:7723 semapv:UnspecifiedMatching +OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:NEDD1 semapv:UnspecifiedMatching +OMIM:600372 NEDD1 skos:exactMatch ncbigene:121441 semapv:UnspecifiedMatching +OMIM:600373 codas syndrome skos:exactMatch MONDO:0010879 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch UMLS:C1412749 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch UMLS:C2936864 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:969 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:BBS4 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch ncbigene:585 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch UMLS:C1337031 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch UMLS:C4310651 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:12829 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:XRCC2 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch ncbigene:7516 semapv:UnspecifiedMatching +OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 skos:exactMatch MONDO:0010880 semapv:UnspecifiedMatching +OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:4132 semapv:UnspecifiedMatching +OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:GALR1 semapv:UnspecifiedMatching +OMIM:600377 GALR1 skos:exactMatch ncbigene:2587 semapv:UnspecifiedMatching +OMIM:600378 IMMT skos:exactMatch hgnc.symbol:6047 semapv:UnspecifiedMatching +OMIM:600378 IMMT skos:exactMatch hgnc.symbol:IMMT semapv:UnspecifiedMatching +OMIM:600378 IMMT skos:exactMatch ncbigene:10989 semapv:UnspecifiedMatching +OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:7622 semapv:UnspecifiedMatching +OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:MYT1 semapv:UnspecifiedMatching +OMIM:600379 MYT1 skos:exactMatch ncbigene:4661 semapv:UnspecifiedMatching +OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:7965 semapv:UnspecifiedMatching +OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:NR1H2 semapv:UnspecifiedMatching +OMIM:600380 NR1H2 skos:exactMatch ncbigene:7376 semapv:UnspecifiedMatching +OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:6467 semapv:UnspecifiedMatching +OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:KTN1 semapv:UnspecifiedMatching +OMIM:600381 KTN1 skos:exactMatch ncbigene:3895 semapv:UnspecifiedMatching +OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:24321 semapv:UnspecifiedMatching +OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:DENND4A semapv:UnspecifiedMatching +OMIM:600382 myc promoter-binding protein skos:exactMatch ncbigene:10260 semapv:UnspecifiedMatching +OMIM:600383 mesomelia-synostoses syndrome skos:exactMatch MONDO:0010881 semapv:UnspecifiedMatching +OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 skos:exactMatch MONDO:0010882 semapv:UnspecifiedMatching +OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:238 semapv:UnspecifiedMatching +OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:ADCY7 semapv:UnspecifiedMatching +OMIM:600385 ADCY7 skos:exactMatch ncbigene:113 semapv:UnspecifiedMatching +OMIM:600386 ID2 skos:exactMatch hgnc.symbol:5361 semapv:UnspecifiedMatching +OMIM:600386 ID2 skos:exactMatch hgnc.symbol:ID2 semapv:UnspecifiedMatching +OMIM:600386 ID2 skos:exactMatch ncbigene:3398 semapv:UnspecifiedMatching +OMIM:600387 BST1 skos:exactMatch hgnc.symbol:1118 semapv:UnspecifiedMatching +OMIM:600387 BST1 skos:exactMatch hgnc.symbol:BST1 semapv:UnspecifiedMatching +OMIM:600387 BST1 skos:exactMatch ncbigene:683 semapv:UnspecifiedMatching +OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:7015 semapv:UnspecifiedMatching +OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:MEP1A semapv:UnspecifiedMatching +OMIM:600388 MEP1A skos:exactMatch ncbigene:4224 semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch UMLS:C1417118 semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:7020 semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:MEP1B semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch ncbigene:4225 semapv:UnspecifiedMatching +OMIM:600390 USF2 skos:exactMatch hgnc.symbol:12594 semapv:UnspecifiedMatching +OMIM:600390 USF2 skos:exactMatch hgnc.symbol:USF2 semapv:UnspecifiedMatching +OMIM:600390 USF2 skos:exactMatch ncbigene:7392 semapv:UnspecifiedMatching +OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:4203 semapv:UnspecifiedMatching +OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:GCNT1 semapv:UnspecifiedMatching +OMIM:600391 GCNT1 skos:exactMatch ncbigene:2650 semapv:UnspecifiedMatching +OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:9824 semapv:UnspecifiedMatching +OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:RAD52 semapv:UnspecifiedMatching +OMIM:600392 RAD52 skos:exactMatch ncbigene:5893 semapv:UnspecifiedMatching +OMIM:600393 FEN1 skos:exactMatch UMLS:C1414583 semapv:UnspecifiedMatching +OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:3650 semapv:UnspecifiedMatching +OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:FEN1 semapv:UnspecifiedMatching +OMIM:600393 FEN1 skos:exactMatch ncbigene:2237 semapv:UnspecifiedMatching +OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:4449 semapv:UnspecifiedMatching +OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:GPC1 semapv:UnspecifiedMatching +OMIM:600395 GPC1 skos:exactMatch ncbigene:2817 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch UMLS:C1413965 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:2749 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:DHX8 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch ncbigene:1659 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch UMLS:C1416554 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:6231 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:KCNB1 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch ncbigene:3745 semapv:UnspecifiedMatching +OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:12948 semapv:UnspecifiedMatching +OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:ZNF160 semapv:UnspecifiedMatching +OMIM:600398 ZNF160 skos:exactMatch ncbigene:90338 semapv:UnspecifiedMatching +OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails skos:exactMatch MONDO:0010883 semapv:UnspecifiedMatching +OMIM:600400 PREP skos:exactMatch hgnc.symbol:9358 semapv:UnspecifiedMatching +OMIM:600400 PREP skos:exactMatch hgnc.symbol:PREP semapv:UnspecifiedMatching +OMIM:600400 PREP skos:exactMatch ncbigene:5550 semapv:UnspecifiedMatching +OMIM:600403 FAP skos:exactMatch hgnc.symbol:3590 semapv:UnspecifiedMatching +OMIM:600403 FAP skos:exactMatch hgnc.symbol:FAP semapv:UnspecifiedMatching +OMIM:600403 FAP skos:exactMatch ncbigene:2191 semapv:UnspecifiedMatching +OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:9970 semapv:UnspecifiedMatching +OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:RFC2 semapv:UnspecifiedMatching +OMIM:600404 RFC2 skos:exactMatch ncbigene:5982 semapv:UnspecifiedMatching +OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:9971 semapv:UnspecifiedMatching +OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:RFC3 semapv:UnspecifiedMatching +OMIM:600405 RFC3 skos:exactMatch ncbigene:5983 semapv:UnspecifiedMatching +OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:9973 semapv:UnspecifiedMatching +OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:RFC5 semapv:UnspecifiedMatching +OMIM:600407 RFC5 skos:exactMatch ncbigene:5985 semapv:UnspecifiedMatching +OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:2730 semapv:UnspecifiedMatching +OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:DDR1 semapv:UnspecifiedMatching +OMIM:600408 DDR1 skos:exactMatch ncbigene:780 semapv:UnspecifiedMatching +OMIM:600409 PPARD skos:exactMatch hgnc.symbol:9235 semapv:UnspecifiedMatching +OMIM:600409 PPARD skos:exactMatch hgnc.symbol:PPARD semapv:UnspecifiedMatching +OMIM:600409 PPARD skos:exactMatch ncbigene:5467 semapv:UnspecifiedMatching +OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:11898 semapv:UnspecifiedMatching +OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:TNFAIP6 semapv:UnspecifiedMatching +OMIM:600410 TNFAIP6 skos:exactMatch ncbigene:7130 semapv:UnspecifiedMatching +OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:4182 semapv:UnspecifiedMatching +OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:GBP1 semapv:UnspecifiedMatching +OMIM:600411 GBP1 skos:exactMatch ncbigene:2633 semapv:UnspecifiedMatching +OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:4183 semapv:UnspecifiedMatching +OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:GBP2 semapv:UnspecifiedMatching +OMIM:600412 GBP2 skos:exactMatch ncbigene:2634 semapv:UnspecifiedMatching +OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:4184 semapv:UnspecifiedMatching +OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:GBP3 semapv:UnspecifiedMatching +OMIM:600413 GBP3 skos:exactMatch ncbigene:2635 semapv:UnspecifiedMatching +OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:9719 semapv:UnspecifiedMatching +OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:PEX5 semapv:UnspecifiedMatching +OMIM:600414 PEX5 skos:exactMatch ncbigene:5830 semapv:UnspecifiedMatching +OMIM:600415 TTPA skos:exactMatch hgnc.symbol:12404 semapv:UnspecifiedMatching +OMIM:600415 TTPA skos:exactMatch hgnc.symbol:TTPA semapv:UnspecifiedMatching +OMIM:600415 TTPA skos:exactMatch ncbigene:7274 semapv:UnspecifiedMatching +OMIM:600416 muscular dystrophy, scapulohumeral skos:exactMatch MONDO:0010884 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch UMLS:C1417862 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch UMLS:C4016664 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:8022 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:NT5C2 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch ncbigene:22978 semapv:UnspecifiedMatching +OMIM:600418 AMPH skos:exactMatch hgnc.symbol:471 semapv:UnspecifiedMatching +OMIM:600418 AMPH skos:exactMatch hgnc.symbol:AMPH semapv:UnspecifiedMatching +OMIM:600418 AMPH skos:exactMatch ncbigene:273 semapv:UnspecifiedMatching +OMIM:600419 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch MONDO:0010885 semapv:UnspecifiedMatching +OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:4328 semapv:UnspecifiedMatching +OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:GLRA3 semapv:UnspecifiedMatching +OMIM:600421 GLRA3 skos:exactMatch ncbigene:8001 semapv:UnspecifiedMatching +OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:3561 semapv:UnspecifiedMatching +OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:FABP6 semapv:UnspecifiedMatching +OMIM:600422 FABP6 skos:exactMatch ncbigene:2172 semapv:UnspecifiedMatching +OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:3146 semapv:UnspecifiedMatching +OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:ECE1 semapv:UnspecifiedMatching +OMIM:600423 ECE1 skos:exactMatch ncbigene:1889 semapv:UnspecifiedMatching +OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:10937 semapv:UnspecifiedMatching +OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:SLC19A1 semapv:UnspecifiedMatching +OMIM:600424 SLC19A1 skos:exactMatch ncbigene:6573 semapv:UnspecifiedMatching +OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:3114 semapv:UnspecifiedMatching +OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:E2F2 semapv:UnspecifiedMatching +OMIM:600426 E2F2 skos:exactMatch ncbigene:1870 semapv:UnspecifiedMatching +OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:3115 semapv:UnspecifiedMatching +OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:E2F3 semapv:UnspecifiedMatching +OMIM:600427 E2F3 skos:exactMatch ncbigene:1871 semapv:UnspecifiedMatching +OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:12658 semapv:UnspecifiedMatching +OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:VAV2 semapv:UnspecifiedMatching +OMIM:600428 VAV2 skos:exactMatch ncbigene:7410 semapv:UnspecifiedMatching +OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:4204 semapv:UnspecifiedMatching +OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:GCNT2 semapv:UnspecifiedMatching +OMIM:600429 GCNT2 skos:exactMatch ncbigene:2651 semapv:UnspecifiedMatching +OMIM:600430 chromosome 2q37 deletion syndrome skos:exactMatch MONDO:0010886 semapv:UnspecifiedMatching +OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:1788 semapv:UnspecifiedMatching +OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:CDKN2B semapv:UnspecifiedMatching +OMIM:600431 CDKN2B skos:exactMatch ncbigene:1030 semapv:UnspecifiedMatching +OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:1543 semapv:UnspecifiedMatching +OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:CBLN1 semapv:UnspecifiedMatching +OMIM:600432 CBLN1 skos:exactMatch ncbigene:869 semapv:UnspecifiedMatching +OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:1544 semapv:UnspecifiedMatching +OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:CBLN2 semapv:UnspecifiedMatching +OMIM:600433 CBLN2 skos:exactMatch ncbigene:147381 semapv:UnspecifiedMatching +OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:3559 semapv:UnspecifiedMatching +OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:FABP4 semapv:UnspecifiedMatching +OMIM:600434 FABP4 skos:exactMatch ncbigene:2167 semapv:UnspecifiedMatching +OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:2499 semapv:UnspecifiedMatching +OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:CTF1 semapv:UnspecifiedMatching +OMIM:600435 CTF1 skos:exactMatch ncbigene:1489 semapv:UnspecifiedMatching +OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:4641 semapv:UnspecifiedMatching +OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:GSTT1 semapv:UnspecifiedMatching +OMIM:600436 GSTT1 skos:exactMatch ncbigene:2952 semapv:UnspecifiedMatching +OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:4642 semapv:UnspecifiedMatching +OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:GSTT2 semapv:UnspecifiedMatching +OMIM:600437 GSTT2 skos:exactMatch ncbigene:2953 semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch UMLS:C1420696 semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch UMLS:C4310690 semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch hgnc.symbol:11741 semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch hgnc.symbol:TFAM semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch ncbigene:7019 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch UMLS:C1420424 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch hgnc.symbol:11317 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch hgnc.symbol:SSBP1 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch ncbigene:6742 semapv:UnspecifiedMatching +OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:3346 semapv:UnspecifiedMatching +OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:ENDOG semapv:UnspecifiedMatching +OMIM:600440 ENDOG skos:exactMatch ncbigene:2021 semapv:UnspecifiedMatching +OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:4168 semapv:UnspecifiedMatching +OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:GAS6 semapv:UnspecifiedMatching +OMIM:600441 GAS6 skos:exactMatch ncbigene:2621 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch UMLS:C1412495 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch UMLS:C1838359 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:638 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:AQP5 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch ncbigene:362 semapv:UnspecifiedMatching +OMIM:600443 GLRX skos:exactMatch hgnc.symbol:4330 semapv:UnspecifiedMatching +OMIM:600443 GLRX skos:exactMatch hgnc.symbol:GLRX semapv:UnspecifiedMatching +OMIM:600443 GLRX skos:exactMatch ncbigene:2745 semapv:UnspecifiedMatching +OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:11038 semapv:UnspecifiedMatching +OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:SLC5A3 semapv:UnspecifiedMatching +OMIM:600444 SLC5A3 skos:exactMatch ncbigene:6526 semapv:UnspecifiedMatching +OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:268 semapv:UnspecifiedMatching +OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:ADORA3 semapv:UnspecifiedMatching +OMIM:600445 ADORA3 skos:exactMatch ncbigene:140 semapv:UnspecifiedMatching +OMIM:600446 ADORA2B skos:exactMatch UMLS:C1412247 semapv:UnspecifiedMatching +OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:264 semapv:UnspecifiedMatching +OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:ADORA2B semapv:UnspecifiedMatching +OMIM:600446 ADORA2B skos:exactMatch ncbigene:136 semapv:UnspecifiedMatching +OMIM:600447 MAP3K12 skos:exactMatch hgnc.symbol:6851 semapv:UnspecifiedMatching +OMIM:600447 MAP3K12 skos:exactMatch hgnc.symbol:MAP3K12 semapv:UnspecifiedMatching +OMIM:600447 MAP3K12 skos:exactMatch ncbigene:7786 semapv:UnspecifiedMatching +OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:9410 semapv:UnspecifiedMatching +OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:PRKCQ semapv:UnspecifiedMatching +OMIM:600448 PRKCQ skos:exactMatch ncbigene:5588 semapv:UnspecifiedMatching +OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:384 semapv:UnspecifiedMatching +OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:AKR1C1 semapv:UnspecifiedMatching +OMIM:600449 AKR1C1 skos:exactMatch ncbigene:1645 semapv:UnspecifiedMatching +OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:385 semapv:UnspecifiedMatching +OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:AKR1C2 semapv:UnspecifiedMatching +OMIM:600450 AKR1C2 skos:exactMatch ncbigene:1646 semapv:UnspecifiedMatching +OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:387 semapv:UnspecifiedMatching +OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:AKR1C4 semapv:UnspecifiedMatching +OMIM:600451 AKR1C4 skos:exactMatch ncbigene:1109 semapv:UnspecifiedMatching +OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:12932 semapv:UnspecifiedMatching +OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:TRIM25 semapv:UnspecifiedMatching +OMIM:600453 TRIM25 skos:exactMatch ncbigene:7706 semapv:UnspecifiedMatching +OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:10420 semapv:UnspecifiedMatching +OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:RPS3 semapv:UnspecifiedMatching +OMIM:600454 RPS3 skos:exactMatch ncbigene:6188 semapv:UnspecifiedMatching +OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:10114 semapv:UnspecifiedMatching +OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:SNORD15A semapv:UnspecifiedMatching +OMIM:600455 RNU15A skos:exactMatch ncbigene:6079 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch UMLS:C1334909 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch UMLS:C3151303 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:8032 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:NTRK2 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch ncbigene:4915 semapv:UnspecifiedMatching +OMIM:600457 hypertrichosis, anterior cervical skos:exactMatch MONDO:0010887 semapv:UnspecifiedMatching +OMIM:600458 adenomyosis skos:exactMatch MONDO:0010888 semapv:UnspecifiedMatching +OMIM:600459 arterial dissection with lentiginosis skos:exactMatch MONDO:0010889 semapv:UnspecifiedMatching +OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly skos:exactMatch MONDO:0010890 semapv:UnspecifiedMatching +OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities skos:exactMatch MONDO:0010891 semapv:UnspecifiedMatching +OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch MONDO:0024553 semapv:UnspecifiedMatching +OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:409 semapv:UnspecifiedMatching +OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:ALDH1A3 semapv:UnspecifiedMatching +OMIM:600463 ALDH1A3 skos:exactMatch ncbigene:220 semapv:UnspecifiedMatching +OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:659 semapv:UnspecifiedMatching +OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:ARF6 semapv:UnspecifiedMatching +OMIM:600464 ARF6 skos:exactMatch ncbigene:382 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch UMLS:C1412404 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:494 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:ANK3 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch ncbigene:288 semapv:UnspecifiedMatching +OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:410 semapv:UnspecifiedMatching +OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:ALDH3B1 semapv:UnspecifiedMatching +OMIM:600466 ALDH3B1 skos:exactMatch ncbigene:221 semapv:UnspecifiedMatching +OMIM:600467 malignant hyperthermia, susceptibility to, 4 skos:exactMatch MONDO:0010893 semapv:UnspecifiedMatching +OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:7658 semapv:UnspecifiedMatching +OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:NCBP1 semapv:UnspecifiedMatching +OMIM:600469 NCBP1 skos:exactMatch ncbigene:4686 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch UMLS:C1421581 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:12872 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:ZIC1 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch ncbigene:7545 semapv:UnspecifiedMatching +OMIM:600471 DEFA6 skos:exactMatch UMLS:C1413977 semapv:UnspecifiedMatching +OMIM:600471 DEFA6 skos:exactMatch hgnc.symbol:2765 semapv:UnspecifiedMatching +OMIM:600471 DEFA6 skos:exactMatch hgnc.symbol:DEFA6 semapv:UnspecifiedMatching +OMIM:600471 DEFA6 skos:exactMatch ncbigene:1671 semapv:UnspecifiedMatching +OMIM:600472 DEFA5 skos:exactMatch UMLS:C1413976 semapv:UnspecifiedMatching +OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:2764 semapv:UnspecifiedMatching +OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:DEFA5 semapv:UnspecifiedMatching +OMIM:600472 DEFA5 skos:exactMatch ncbigene:1670 semapv:UnspecifiedMatching +OMIM:600473 PURA skos:exactMatch hgnc.symbol:9701 semapv:UnspecifiedMatching +OMIM:600473 PURA skos:exactMatch hgnc.symbol:PURA semapv:UnspecifiedMatching +OMIM:600473 PURA skos:exactMatch ncbigene:5813 semapv:UnspecifiedMatching +OMIM:600474 CAMP skos:exactMatch hgnc.symbol:1472 semapv:UnspecifiedMatching +OMIM:600474 CAMP skos:exactMatch hgnc.symbol:CAMP semapv:UnspecifiedMatching +OMIM:600474 CAMP skos:exactMatch ncbigene:820 semapv:UnspecifiedMatching +OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:11543 semapv:UnspecifiedMatching +OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:TAF10 semapv:UnspecifiedMatching +OMIM:600475 TAF10 skos:exactMatch ncbigene:6881 semapv:UnspecifiedMatching +OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:11078 semapv:UnspecifiedMatching +OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:SLC9A5 semapv:UnspecifiedMatching +OMIM:600477 SLC9A5 skos:exactMatch ncbigene:6553 semapv:UnspecifiedMatching +OMIM:600478 SKIC2 skos:exactMatch hgnc.symbol:SKIC2 semapv:UnspecifiedMatching +OMIM:600478 SKIC2 skos:exactMatch ncbigene:6499 semapv:UnspecifiedMatching +OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:11623 semapv:UnspecifiedMatching +OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:TCF12 semapv:UnspecifiedMatching +OMIM:600480 TCF12 skos:exactMatch ncbigene:6938 semapv:UnspecifiedMatching +OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:11290 semapv:UnspecifiedMatching +OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:SREBF2 semapv:UnspecifiedMatching +OMIM:600481 SREBF2 skos:exactMatch ncbigene:6721 semapv:UnspecifiedMatching +OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:3686 semapv:UnspecifiedMatching +OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:FGF8 semapv:UnspecifiedMatching +OMIM:600483 FGF8 skos:exactMatch ncbigene:2253 semapv:UnspecifiedMatching +OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:8746 semapv:UnspecifiedMatching +OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:PCSK4 semapv:UnspecifiedMatching +OMIM:600487 PCSK4 skos:exactMatch ncbigene:54760 semapv:UnspecifiedMatching +OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:8747 semapv:UnspecifiedMatching +OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:PCSK5 semapv:UnspecifiedMatching +OMIM:600488 PCSK5 skos:exactMatch ncbigene:5125 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch UMLS:C1417694 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:7775 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:NFATC1 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch ncbigene:4772 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch UMLS:C1417695 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:7776 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:NFATC2 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch ncbigene:4773 semapv:UnspecifiedMatching +OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:7034 semapv:UnspecifiedMatching +OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:MFAP3 semapv:UnspecifiedMatching +OMIM:600491 MFAP3 skos:exactMatch ncbigene:4238 semapv:UnspecifiedMatching +OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:7782 semapv:UnspecifiedMatching +OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:NFE2L2 semapv:UnspecifiedMatching +OMIM:600492 NFE2L2 skos:exactMatch ncbigene:4780 semapv:UnspecifiedMatching +OMIM:600493 ADGRE1 skos:exactMatch hgnc.symbol:3336 semapv:UnspecifiedMatching +OMIM:600493 ADGRE1 skos:exactMatch hgnc.symbol:ADGRE1 semapv:UnspecifiedMatching +OMIM:600493 ADGRE1 skos:exactMatch ncbigene:2015 semapv:UnspecifiedMatching +OMIM:600494 POU3F2 skos:exactMatch hgnc.symbol:9215 semapv:UnspecifiedMatching +OMIM:600494 POU3F2 skos:exactMatch hgnc.symbol:POU3F2 semapv:UnspecifiedMatching +OMIM:600494 POU3F2 skos:exactMatch ncbigene:5454 semapv:UnspecifiedMatching +OMIM:600495 EIF4G1 skos:exactMatch hgnc.symbol:3296 semapv:UnspecifiedMatching +OMIM:600495 EIF4G1 skos:exactMatch hgnc.symbol:EIF4G1 semapv:UnspecifiedMatching +OMIM:600495 EIF4G1 skos:exactMatch ncbigene:1981 semapv:UnspecifiedMatching +OMIM:600496 maturity-onset diabetes of the young, iia 3 skos:exactMatch MONDO:0010894 semapv:UnspecifiedMatching +OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:9377 semapv:UnspecifiedMatching +OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:PRKAA2 semapv:UnspecifiedMatching +OMIM:600497 PRKAA2 skos:exactMatch ncbigene:5563 semapv:UnspecifiedMatching +OMIM:600501 abcd syndrome skos:exactMatch MONDO:0010895 semapv:UnspecifiedMatching +OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:5542 semapv:UnspecifiedMatching +OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:IGHMBP2 semapv:UnspecifiedMatching +OMIM:600502 IGHMBP2 skos:exactMatch ncbigene:3508 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch UMLS:C1709390 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:19985 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:SUB1 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch ncbigene:10923 semapv:UnspecifiedMatching +OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:6265 semapv:UnspecifiedMatching +OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:KCNJ4 semapv:UnspecifiedMatching +OMIM:600504 KCNJ4 skos:exactMatch ncbigene:3761 semapv:UnspecifiedMatching +OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:2451 semapv:UnspecifiedMatching +OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:CSNK1A1 semapv:UnspecifiedMatching +OMIM:600505 CSNK1A1 skos:exactMatch ncbigene:1452 semapv:UnspecifiedMatching +OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:7664 semapv:UnspecifiedMatching +OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:NCK1 semapv:UnspecifiedMatching +OMIM:600508 NCK1 skos:exactMatch ncbigene:4690 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C1412082 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C2931832 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394566 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:59 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:ABCC8 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch ncbigene:6833 semapv:UnspecifiedMatching +OMIM:600510 ocular pigment dispersion with or without glaucoma skos:exactMatch MONDO:0010896 semapv:UnspecifiedMatching +OMIM:600511 schizophrenia 3 skos:exactMatch MONDO:0010897 semapv:UnspecifiedMatching +OMIM:600512 epilepsy, familial temporal lobe, 1 skos:exactMatch MONDO:0700090 semapv:UnspecifiedMatching +OMIM:600513 epilepsy, nocturnal frontal lobe, 1 skos:exactMatch MONDO:0010899 semapv:UnspecifiedMatching +OMIM:600514 RELN skos:exactMatch hgnc.symbol:9957 semapv:UnspecifiedMatching +OMIM:600514 RELN skos:exactMatch hgnc.symbol:RELN semapv:UnspecifiedMatching +OMIM:600514 RELN skos:exactMatch ncbigene:5649 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch UMLS:C1425330 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch UMLS:C1853278 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:18124 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:P2RY12 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch ncbigene:64805 semapv:UnspecifiedMatching +OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:949 semapv:UnspecifiedMatching +OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:BAK1 semapv:UnspecifiedMatching +OMIM:600516 BAK1 skos:exactMatch ncbigene:578 semapv:UnspecifiedMatching +OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:10569 semapv:UnspecifiedMatching +OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:SERPINB3 semapv:UnspecifiedMatching +OMIM:600517 SERPINB3 skos:exactMatch ncbigene:6317 semapv:UnspecifiedMatching +OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:10570 semapv:UnspecifiedMatching +OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:SERPINB4 semapv:UnspecifiedMatching +OMIM:600518 SERPINB4 skos:exactMatch ncbigene:6318 semapv:UnspecifiedMatching +OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:4647 semapv:UnspecifiedMatching +OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:GTF2A2 semapv:UnspecifiedMatching +OMIM:600519 GTF2A2 skos:exactMatch ncbigene:2958 semapv:UnspecifiedMatching +OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:4646 semapv:UnspecifiedMatching +OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:GTF2A1 semapv:UnspecifiedMatching +OMIM:600520 GTF2A1 skos:exactMatch ncbigene:2957 semapv:UnspecifiedMatching +OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:6901 semapv:UnspecifiedMatching +OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:MASP1 semapv:UnspecifiedMatching +OMIM:600521 MASP1 skos:exactMatch ncbigene:5648 semapv:UnspecifiedMatching +OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:9035 semapv:UnspecifiedMatching +OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:PLA2G4A semapv:UnspecifiedMatching +OMIM:600522 PLA2G4A skos:exactMatch ncbigene:5321 semapv:UnspecifiedMatching +OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:10908 semapv:UnspecifiedMatching +OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:SLC11A2 semapv:UnspecifiedMatching +OMIM:600523 SLC11A2 skos:exactMatch ncbigene:4891 semapv:UnspecifiedMatching +OMIM:600524 RYK skos:exactMatch hgnc.symbol:10481 semapv:UnspecifiedMatching +OMIM:600524 RYK skos:exactMatch hgnc.symbol:RYK semapv:UnspecifiedMatching +OMIM:600524 RYK skos:exactMatch ncbigene:6259 semapv:UnspecifiedMatching +OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:2916 semapv:UnspecifiedMatching +OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:DLX3 semapv:UnspecifiedMatching +OMIM:600525 DLX3 skos:exactMatch ncbigene:1747 semapv:UnspecifiedMatching +OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:3332 semapv:UnspecifiedMatching +OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:MARK2 semapv:UnspecifiedMatching +OMIM:600526 MARK2 skos:exactMatch ncbigene:2011 semapv:UnspecifiedMatching +OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:3227 semapv:UnspecifiedMatching +OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:EFNB2 semapv:UnspecifiedMatching +OMIM:600527 EFNB2 skos:exactMatch ncbigene:1948 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C1413688 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C4749072 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch UMLS:C4749136 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:2328 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:CPT1A semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch ncbigene:1374 semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch UMLS:C1332121 semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch hgnc.symbol:890 semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch hgnc.symbol:AUH semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch ncbigene:549 semapv:UnspecifiedMatching +OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:11072 semapv:UnspecifiedMatching +OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:SLC9A2 semapv:UnspecifiedMatching +OMIM:600530 SLC9A2 skos:exactMatch ncbigene:6549 semapv:UnspecifiedMatching +OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:11077 semapv:UnspecifiedMatching +OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:SLC9A4 semapv:UnspecifiedMatching +OMIM:600531 SLC9A4 skos:exactMatch ncbigene:389015 semapv:UnspecifiedMatching +OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:7717 semapv:UnspecifiedMatching +OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:NDUFV2 semapv:UnspecifiedMatching +OMIM:600532 NDUFV2 skos:exactMatch ncbigene:4729 semapv:UnspecifiedMatching +OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:15511 semapv:UnspecifiedMatching +OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:VANGL2 semapv:UnspecifiedMatching +OMIM:600533 VANGL2 skos:exactMatch ncbigene:57216 semapv:UnspecifiedMatching +OMIM:600534 BST2 skos:exactMatch hgnc.symbol:1119 semapv:UnspecifiedMatching +OMIM:600534 BST2 skos:exactMatch hgnc.symbol:BST2 semapv:UnspecifiedMatching +OMIM:600534 BST2 skos:exactMatch ncbigene:684 semapv:UnspecifiedMatching +OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:7014 semapv:UnspecifiedMatching +OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:MEOX2 semapv:UnspecifiedMatching +OMIM:600535 MEOX2 skos:exactMatch ncbigene:4223 semapv:UnspecifiedMatching +OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:6143 semapv:UnspecifiedMatching +OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:ITGA7 semapv:UnspecifiedMatching +OMIM:600536 ITGA7 skos:exactMatch ncbigene:3679 semapv:UnspecifiedMatching +OMIM:600537 RECQL skos:exactMatch hgnc.symbol:9948 semapv:UnspecifiedMatching +OMIM:600537 RECQL skos:exactMatch hgnc.symbol:RECQL semapv:UnspecifiedMatching +OMIM:600537 RECQL skos:exactMatch ncbigene:5965 semapv:UnspecifiedMatching +OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:9353 semapv:UnspecifiedMatching +OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:PRDX2 semapv:UnspecifiedMatching +OMIM:600538 PRDX2 skos:exactMatch ncbigene:7001 semapv:UnspecifiedMatching +OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:9404 semapv:UnspecifiedMatching +OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:PRKCI semapv:UnspecifiedMatching +OMIM:600539 PRKCI skos:exactMatch ncbigene:5584 semapv:UnspecifiedMatching +OMIM:600540 SP4 skos:exactMatch hgnc.symbol:11209 semapv:UnspecifiedMatching +OMIM:600540 SP4 skos:exactMatch hgnc.symbol:SP4 semapv:UnspecifiedMatching +OMIM:600540 SP4 skos:exactMatch ncbigene:6671 semapv:UnspecifiedMatching +OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:3490 semapv:UnspecifiedMatching +OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:ETV1 semapv:UnspecifiedMatching +OMIM:600541 ETV1 skos:exactMatch ncbigene:2115 semapv:UnspecifiedMatching +OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:7982 semapv:UnspecifiedMatching +OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:NR4A3 semapv:UnspecifiedMatching +OMIM:600542 NR4A3 skos:exactMatch ncbigene:8013 semapv:UnspecifiedMatching +OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:3432 semapv:UnspecifiedMatching +OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:ERBB4 semapv:UnspecifiedMatching +OMIM:600543 ERBB4 skos:exactMatch ncbigene:2066 semapv:UnspecifiedMatching +OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:10920 semapv:UnspecifiedMatching +OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:SLC15A1 semapv:UnspecifiedMatching +OMIM:600544 SLC15A1 skos:exactMatch ncbigene:6564 semapv:UnspecifiedMatching +OMIM:600546 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch MONDO:0010900 semapv:UnspecifiedMatching +OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:1564 semapv:UnspecifiedMatching +OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:KYAT1 semapv:UnspecifiedMatching +OMIM:600547 CCBL1 skos:exactMatch ncbigene:883 semapv:UnspecifiedMatching +OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:5244 semapv:UnspecifiedMatching +OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:HSPA9 semapv:UnspecifiedMatching +OMIM:600548 HSPA9 skos:exactMatch ncbigene:3313 semapv:UnspecifiedMatching +OMIM:600549 IK skos:exactMatch hgnc.symbol:5958 semapv:UnspecifiedMatching +OMIM:600549 IK skos:exactMatch hgnc.symbol:IK semapv:UnspecifiedMatching +OMIM:600549 IK skos:exactMatch ncbigene:3550 semapv:UnspecifiedMatching +OMIM:600550 CTSO skos:exactMatch hgnc.symbol:2542 semapv:UnspecifiedMatching +OMIM:600550 CTSO skos:exactMatch hgnc.symbol:CTSO semapv:UnspecifiedMatching +OMIM:600550 CTSO skos:exactMatch ncbigene:1519 semapv:UnspecifiedMatching +OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:4497 semapv:UnspecifiedMatching +OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:GPR4 semapv:UnspecifiedMatching +OMIM:600551 GPR4 skos:exactMatch ncbigene:2828 semapv:UnspecifiedMatching +OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:1625 semapv:UnspecifiedMatching +OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:XCR1 semapv:UnspecifiedMatching +OMIM:600552 XCR1 skos:exactMatch ncbigene:2829 semapv:UnspecifiedMatching +OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:4515 semapv:UnspecifiedMatching +OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:GPR6 semapv:UnspecifiedMatching +OMIM:600553 GPR6 skos:exactMatch ncbigene:2830 semapv:UnspecifiedMatching +OMIM:600554 IL15 skos:exactMatch UMLS:C1334105 semapv:UnspecifiedMatching +OMIM:600554 IL15 skos:exactMatch hgnc.symbol:5977 semapv:UnspecifiedMatching +OMIM:600554 IL15 skos:exactMatch hgnc.symbol:IL15 semapv:UnspecifiedMatching +OMIM:600554 IL15 skos:exactMatch ncbigene:3600 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch UMLS:C1335872 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch UMLS:C3151088 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch UMLS:C4013950 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:11362 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:STAT1 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch ncbigene:6772 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch UMLS:C1335873 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch UMLS:C4225260 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:11363 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:STAT2 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch ncbigene:6773 semapv:UnspecifiedMatching +OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:11365 semapv:UnspecifiedMatching +OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:STAT4 semapv:UnspecifiedMatching +OMIM:600558 STAT4 skos:exactMatch ncbigene:6775 semapv:UnspecifiedMatching +OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts skos:exactMatch MONDO:0010901 semapv:UnspecifiedMatching +OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:10840 semapv:UnspecifiedMatching +OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:SHC1 semapv:UnspecifiedMatching +OMIM:600560 SHC1 skos:exactMatch ncbigene:6464 semapv:UnspecifiedMatching +OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability skos:exactMatch MONDO:0010902 semapv:UnspecifiedMatching +OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:1751 semapv:UnspecifiedMatching +OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:CDH12 semapv:UnspecifiedMatching +OMIM:600562 CDH12 skos:exactMatch ncbigene:1010 semapv:UnspecifiedMatching +OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:9600 semapv:UnspecifiedMatching +OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:PTGFR semapv:UnspecifiedMatching +OMIM:600563 PTGFR skos:exactMatch ncbigene:5737 semapv:UnspecifiedMatching +OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:6169 semapv:UnspecifiedMatching +OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:ITIH4 semapv:UnspecifiedMatching +OMIM:600564 ITIH4 skos:exactMatch ncbigene:3700 semapv:UnspecifiedMatching +OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:8008 semapv:UnspecifiedMatching +OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:NRXN1 semapv:UnspecifiedMatching +OMIM:600565 NRXN1 skos:exactMatch ncbigene:9378 semapv:UnspecifiedMatching +OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:8009 semapv:UnspecifiedMatching +OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:NRXN2 semapv:UnspecifiedMatching +OMIM:600566 NRXN2 skos:exactMatch ncbigene:9379 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch UMLS:C1417853 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:8010 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:NRXN3 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch ncbigene:9369 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch UMLS:C1422548 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:14291 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:NLGN1 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch ncbigene:22871 semapv:UnspecifiedMatching +OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:2020 semapv:UnspecifiedMatching +OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:CLCN2 semapv:UnspecifiedMatching +OMIM:600570 CLCN2 skos:exactMatch ncbigene:1181 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch UMLS:C1419346 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch UMLS:C3887929 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch UMLS:C4225584 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch UMLS:C4539942 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch hgnc.symbol:9966 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch hgnc.symbol:REST semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch ncbigene:5978 semapv:UnspecifiedMatching +OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:10789 semapv:UnspecifiedMatching +OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:SRSF7 semapv:UnspecifiedMatching +OMIM:600572 SRSF7 skos:exactMatch ncbigene:6432 semapv:UnspecifiedMatching +OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:11541 semapv:UnspecifiedMatching +OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:TAF7 semapv:UnspecifiedMatching +OMIM:600573 TAF7 skos:exactMatch ncbigene:6879 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch UMLS:C1416947 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch UMLS:C3810283 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch UMLS:C4225280 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:6742 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:LZTR1 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch ncbigene:8216 semapv:UnspecifiedMatching +OMIM:600575 TSN skos:exactMatch hgnc.symbol:12379 semapv:UnspecifiedMatching +OMIM:600575 TSN skos:exactMatch hgnc.symbol:TSN semapv:UnspecifiedMatching +OMIM:600575 TSN skos:exactMatch ncbigene:7247 semapv:UnspecifiedMatching +OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:4173 semapv:UnspecifiedMatching +OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:GATA4 semapv:UnspecifiedMatching +OMIM:600576 GATA4 skos:exactMatch ncbigene:2626 semapv:UnspecifiedMatching +OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:6595 semapv:UnspecifiedMatching +OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:LHX3 semapv:UnspecifiedMatching +OMIM:600577 LHX3 skos:exactMatch ncbigene:8022 semapv:UnspecifiedMatching +OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:8253 semapv:UnspecifiedMatching +OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:OR2H2 semapv:UnspecifiedMatching +OMIM:600578 OR2H3 skos:exactMatch ncbigene:7932 semapv:UnspecifiedMatching +OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:9678 semapv:UnspecifiedMatching +OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:PTPRO semapv:UnspecifiedMatching +OMIM:600579 PTPRO skos:exactMatch ncbigene:5800 semapv:UnspecifiedMatching +OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:2021 semapv:UnspecifiedMatching +OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:CLCN3 semapv:UnspecifiedMatching +OMIM:600580 CLCN3 skos:exactMatch ncbigene:1182 semapv:UnspecifiedMatching +OMIM:600581 ID4 skos:exactMatch hgnc.symbol:5363 semapv:UnspecifiedMatching +OMIM:600581 ID4 skos:exactMatch hgnc.symbol:ID4 semapv:UnspecifiedMatching +OMIM:600581 ID4 skos:exactMatch ncbigene:3400 semapv:UnspecifiedMatching +OMIM:600582 ASPH skos:exactMatch hgnc.symbol:757 semapv:UnspecifiedMatching +OMIM:600582 ASPH skos:exactMatch hgnc.symbol:ASPH semapv:UnspecifiedMatching +OMIM:600582 ASPH skos:exactMatch ncbigene:444 semapv:UnspecifiedMatching +OMIM:600583 TEC skos:exactMatch hgnc.symbol:11719 semapv:UnspecifiedMatching +OMIM:600583 TEC skos:exactMatch hgnc.symbol:TEC semapv:UnspecifiedMatching +OMIM:600583 TEC skos:exactMatch ncbigene:7006 semapv:UnspecifiedMatching +OMIM:600584 NKX2-5 skos:exactMatch hgnc.symbol:2488 semapv:UnspecifiedMatching +OMIM:600584 NKX2-5 skos:exactMatch hgnc.symbol:NKX2-5 semapv:UnspecifiedMatching +OMIM:600584 NKX2-5 skos:exactMatch ncbigene:1482 semapv:UnspecifiedMatching +OMIM:600585 TGM4 skos:exactMatch hgnc.symbol:11780 semapv:UnspecifiedMatching +OMIM:600585 TGM4 skos:exactMatch hgnc.symbol:TGM4 semapv:UnspecifiedMatching +OMIM:600585 TGM4 skos:exactMatch ncbigene:7047 semapv:UnspecifiedMatching +OMIM:600586 ECT2 skos:exactMatch hgnc.symbol:3155 semapv:UnspecifiedMatching +OMIM:600586 ECT2 skos:exactMatch hgnc.symbol:ECT2 semapv:UnspecifiedMatching +OMIM:600586 ECT2 skos:exactMatch ncbigene:1894 semapv:UnspecifiedMatching +OMIM:600587 POMZP3 skos:exactMatch hgnc.symbol:9203 semapv:UnspecifiedMatching +OMIM:600587 POMZP3 skos:exactMatch hgnc.symbol:POMZP3 semapv:UnspecifiedMatching +OMIM:600587 POMZP3 skos:exactMatch ncbigene:22932 semapv:UnspecifiedMatching +OMIM:600589 SRF skos:exactMatch hgnc.symbol:11291 semapv:UnspecifiedMatching +OMIM:600589 SRF skos:exactMatch hgnc.symbol:SRF semapv:UnspecifiedMatching +OMIM:600589 SRF skos:exactMatch ncbigene:6722 semapv:UnspecifiedMatching +OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:9282 semapv:UnspecifiedMatching +OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:PPP1CB semapv:UnspecifiedMatching +OMIM:600590 PPP1CB skos:exactMatch ncbigene:5500 semapv:UnspecifiedMatching +OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:11134 semapv:UnspecifiedMatching +OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:SNAPC1 semapv:UnspecifiedMatching +OMIM:600591 SNAPC1 skos:exactMatch ncbigene:6617 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch UMLS:C1334494 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:6950 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:MCM7 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch ncbigene:4176 semapv:UnspecifiedMatching +OMIM:600593 craniosynostosis, adelaide iia skos:exactMatch MONDO:0010903 semapv:UnspecifiedMatching +OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:2845 semapv:UnspecifiedMatching +OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:DGCR2 semapv:UnspecifiedMatching +OMIM:600594 DGCR2 skos:exactMatch ncbigene:9993 semapv:UnspecifiedMatching +OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:20606 semapv:UnspecifiedMatching +OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:IFT88 semapv:UnspecifiedMatching +OMIM:600595 IFT88 skos:exactMatch ncbigene:8100 semapv:UnspecifiedMatching +OMIM:600596 MFAP4 skos:exactMatch hgnc.symbol:7035 semapv:UnspecifiedMatching +OMIM:600596 MFAP4 skos:exactMatch hgnc.symbol:MFAP4 semapv:UnspecifiedMatching +OMIM:600596 MFAP4 skos:exactMatch ncbigene:4239 semapv:UnspecifiedMatching +OMIM:600597 PLCL1 skos:exactMatch hgnc.symbol:9063 semapv:UnspecifiedMatching +OMIM:600597 PLCL1 skos:exactMatch hgnc.symbol:PLCL1 semapv:UnspecifiedMatching +OMIM:600597 PLCL1 skos:exactMatch ncbigene:5334 semapv:UnspecifiedMatching +OMIM:600598 setting-sun phenomenon, familial benign skos:exactMatch MONDO:0010904 semapv:UnspecifiedMatching +OMIM:600599 KLF1 skos:exactMatch hgnc.symbol:6345 semapv:UnspecifiedMatching +OMIM:600599 KLF1 skos:exactMatch hgnc.symbol:KLF1 semapv:UnspecifiedMatching +OMIM:600599 KLF1 skos:exactMatch ncbigene:10661 semapv:UnspecifiedMatching +OMIM:600600 EPHB1 skos:exactMatch hgnc.symbol:3392 semapv:UnspecifiedMatching +OMIM:600600 EPHB1 skos:exactMatch hgnc.symbol:EPHB1 semapv:UnspecifiedMatching +OMIM:600600 EPHB1 skos:exactMatch ncbigene:2047 semapv:UnspecifiedMatching +OMIM:600605 MTX1 skos:exactMatch hgnc.symbol:7504 semapv:UnspecifiedMatching +OMIM:600605 MTX1 skos:exactMatch hgnc.symbol:MTX1 semapv:UnspecifiedMatching +OMIM:600605 MTX1 skos:exactMatch ncbigene:4580 semapv:UnspecifiedMatching +OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:11644 semapv:UnspecifiedMatching +OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:VPS72 semapv:UnspecifiedMatching +OMIM:600607 VPS72 skos:exactMatch ncbigene:6944 semapv:UnspecifiedMatching +OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:8547 semapv:UnspecifiedMatching +OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:P4HA2 semapv:UnspecifiedMatching +OMIM:600608 P4HA2 skos:exactMatch ncbigene:8974 semapv:UnspecifiedMatching +OMIM:600609 GABPA skos:exactMatch hgnc.symbol:4071 semapv:UnspecifiedMatching +OMIM:600609 GABPA skos:exactMatch hgnc.symbol:GABPA semapv:UnspecifiedMatching +OMIM:600609 GABPA skos:exactMatch ncbigene:2551 semapv:UnspecifiedMatching +OMIM:600610 GABPB skos:exactMatch hgnc.symbol:4074 semapv:UnspecifiedMatching +OMIM:600610 GABPB skos:exactMatch hgnc.symbol:GABPB1 semapv:UnspecifiedMatching +OMIM:600610 GABPB skos:exactMatch ncbigene:2553 semapv:UnspecifiedMatching +OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:3720 semapv:UnspecifiedMatching +OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:FKBP4 semapv:UnspecifiedMatching +OMIM:600611 FKBP4 skos:exactMatch ncbigene:2288 semapv:UnspecifiedMatching +OMIM:600613 NBL1 skos:exactMatch hgnc.symbol:7650 semapv:UnspecifiedMatching +OMIM:600613 NBL1 skos:exactMatch hgnc.symbol:NBL1 semapv:UnspecifiedMatching +OMIM:600613 NBL1 skos:exactMatch ncbigene:4681 semapv:UnspecifiedMatching +OMIM:600614 S100P skos:exactMatch hgnc.symbol:10504 semapv:UnspecifiedMatching +OMIM:600614 S100P skos:exactMatch hgnc.symbol:S100P semapv:UnspecifiedMatching +OMIM:600614 S100P skos:exactMatch ncbigene:6286 semapv:UnspecifiedMatching +OMIM:600615 LGALS7 skos:exactMatch hgnc.symbol:6568 semapv:UnspecifiedMatching +OMIM:600615 LGALS7 skos:exactMatch hgnc.symbol:LGALS7 semapv:UnspecifiedMatching +OMIM:600615 LGALS7 skos:exactMatch ncbigene:3963 semapv:UnspecifiedMatching +OMIM:600616 LUM skos:exactMatch hgnc.symbol:6724 semapv:UnspecifiedMatching +OMIM:600616 LUM skos:exactMatch hgnc.symbol:LUM semapv:UnspecifiedMatching +OMIM:600616 LUM skos:exactMatch ncbigene:4060 semapv:UnspecifiedMatching +OMIM:600617 STAR skos:exactMatch hgnc.symbol:11359 semapv:UnspecifiedMatching +OMIM:600617 STAR skos:exactMatch hgnc.symbol:STAR semapv:UnspecifiedMatching +OMIM:600617 STAR skos:exactMatch ncbigene:6770 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch UMLS:C0796520 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch UMLS:C4015537 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:3495 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:ETV6 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch ncbigene:2120 semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch UMLS:C1414619 semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:3712 semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:FKBP1B semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch ncbigene:2281 semapv:UnspecifiedMatching +OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:10577 semapv:UnspecifiedMatching +OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:STMN2 semapv:UnspecifiedMatching +OMIM:600621 STMN2 skos:exactMatch ncbigene:11075 semapv:UnspecifiedMatching +OMIM:600623 CD82 skos:exactMatch hgnc.symbol:6210 semapv:UnspecifiedMatching +OMIM:600623 CD82 skos:exactMatch hgnc.symbol:CD82 semapv:UnspecifiedMatching +OMIM:600623 CD82 skos:exactMatch ncbigene:3732 semapv:UnspecifiedMatching +OMIM:600624 cone-rod dystrophy 1 skos:exactMatch MONDO:0010905 semapv:UnspecifiedMatching +OMIM:600625 orofacial cleft 11 skos:exactMatch MONDO:0010906 semapv:UnspecifiedMatching +OMIM:600625 orofacial cleft 11 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C1833563 semapv:UnspecifiedMatching +OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C2677434 semapv:UnspecifiedMatching +OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:6564 semapv:UnspecifiedMatching +OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:LGALS3BP semapv:UnspecifiedMatching +OMIM:600626 LGALS3BP skos:exactMatch ncbigene:3959 semapv:UnspecifiedMatching +OMIM:600627 hypertryptophanemia skos:exactMatch MONDO:0010907 semapv:UnspecifiedMatching +OMIM:600628 loose anagen hair syndrome skos:exactMatch MONDO:0010908 semapv:UnspecifiedMatching +OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:4937 semapv:UnspecifiedMatching +OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:HLA-DOB semapv:UnspecifiedMatching +OMIM:600629 HLA-DOB skos:exactMatch ncbigene:3112 semapv:UnspecifiedMatching +OMIM:600630 uv-sensitive syndrome 1 skos:exactMatch MONDO:0010909 semapv:UnspecifiedMatching +OMIM:600631 enuresis, nocturnal, 1 skos:exactMatch MONDO:0010910 semapv:UnspecifiedMatching +OMIM:600632 OPCML skos:exactMatch hgnc.symbol:8143 semapv:UnspecifiedMatching +OMIM:600632 OPCML skos:exactMatch hgnc.symbol:OPCML semapv:UnspecifiedMatching +OMIM:600632 OPCML skos:exactMatch ncbigene:4978 semapv:UnspecifiedMatching +OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:11757 semapv:UnspecifiedMatching +OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:TFF3 semapv:UnspecifiedMatching +OMIM:600633 TFF3 skos:exactMatch ncbigene:7033 semapv:UnspecifiedMatching +OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:11825 semapv:UnspecifiedMatching +OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:NKX2-1 semapv:UnspecifiedMatching +OMIM:600635 NKX2-1 skos:exactMatch ncbigene:7080 semapv:UnspecifiedMatching +OMIM:600636 CASP3 skos:exactMatch UMLS:C1413132 semapv:UnspecifiedMatching +OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:1504 semapv:UnspecifiedMatching +OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:CASP3 semapv:UnspecifiedMatching +OMIM:600636 CASP3 skos:exactMatch ncbigene:836 semapv:UnspecifiedMatching +OMIM:600637 SLC1A6 skos:exactMatch hgnc.symbol:10944 semapv:UnspecifiedMatching +OMIM:600637 SLC1A6 skos:exactMatch hgnc.symbol:SLC1A6 semapv:UnspecifiedMatching +OMIM:600637 SLC1A6 skos:exactMatch ncbigene:6511 semapv:UnspecifiedMatching +OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement skos:exactMatch MONDO:0010912 semapv:UnspecifiedMatching +OMIM:600639 CASP2 skos:exactMatch hgnc.symbol:1503 semapv:UnspecifiedMatching +OMIM:600639 CASP2 skos:exactMatch hgnc.symbol:CASP2 semapv:UnspecifiedMatching +OMIM:600639 CASP2 skos:exactMatch ncbigene:835 semapv:UnspecifiedMatching +OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:11455 semapv:UnspecifiedMatching +OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:SULT1A3 semapv:UnspecifiedMatching +OMIM:600641 SULT1A3 skos:exactMatch ncbigene:6818 semapv:UnspecifiedMatching +OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:13880 semapv:UnspecifiedMatching +OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:MYO1G semapv:UnspecifiedMatching +OMIM:600642 MYO1G skos:exactMatch ncbigene:64005 semapv:UnspecifiedMatching +OMIM:600643 caroli disease, isolated skos:exactMatch MONDO:0010913 semapv:UnspecifiedMatching +OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:9706 semapv:UnspecifiedMatching +OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:NECTIN1 semapv:UnspecifiedMatching +OMIM:600644 NECTIN1 skos:exactMatch ncbigene:5818 semapv:UnspecifiedMatching +OMIM:600646 PROCR skos:exactMatch hgnc.symbol:9452 semapv:UnspecifiedMatching +OMIM:600646 PROCR skos:exactMatch hgnc.symbol:PROCR semapv:UnspecifiedMatching +OMIM:600646 PROCR skos:exactMatch ncbigene:10544 semapv:UnspecifiedMatching +OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:5018 semapv:UnspecifiedMatching +OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:HMX2 semapv:UnspecifiedMatching +OMIM:600647 HMX2 skos:exactMatch ncbigene:3167 semapv:UnspecifiedMatching +OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile skos:exactMatch MONDO:0010914 semapv:UnspecifiedMatching +OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:2330 semapv:UnspecifiedMatching +OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:CPT2 semapv:UnspecifiedMatching +OMIM:600650 CPT2 skos:exactMatch ncbigene:1376 semapv:UnspecifiedMatching +OMIM:600652 deafness, autosomal dominant 4a skos:exactMatch MONDO:0010915 semapv:UnspecifiedMatching +OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:9568 semapv:UnspecifiedMatching +OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:PSME1 semapv:UnspecifiedMatching +OMIM:600654 PSME1 skos:exactMatch ncbigene:5720 semapv:UnspecifiedMatching +OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:3208 semapv:UnspecifiedMatching +OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:EEF1B2 semapv:UnspecifiedMatching +OMIM:600655 EEF1B2 skos:exactMatch ncbigene:1933 semapv:UnspecifiedMatching +OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:9322 semapv:UnspecifiedMatching +OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:PPP5C semapv:UnspecifiedMatching +OMIM:600658 PPP5C skos:exactMatch ncbigene:5536 semapv:UnspecifiedMatching +OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:3118 semapv:UnspecifiedMatching +OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:E2F4 semapv:UnspecifiedMatching +OMIM:600659 E2F4 skos:exactMatch ncbigene:1874 semapv:UnspecifiedMatching +OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:6993 semapv:UnspecifiedMatching +OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:MEF2A semapv:UnspecifiedMatching +OMIM:600660 MEF2A skos:exactMatch ncbigene:4205 semapv:UnspecifiedMatching +OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:6995 semapv:UnspecifiedMatching +OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:MEF2B semapv:UnspecifiedMatching +OMIM:600661 MEF2B skos:exactMatch ncbigene:100271849 semapv:UnspecifiedMatching +OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:6996 semapv:UnspecifiedMatching +OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:MEF2C semapv:UnspecifiedMatching +OMIM:600662 MEF2C skos:exactMatch ncbigene:4208 semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch UMLS:C1417103 semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:6997 semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:MEF2D semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch ncbigene:4209 semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch UMLS:C1413419 semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch hgnc.symbol:1974 semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch hgnc.symbol:CHUK semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch ncbigene:1147 semapv:UnspecifiedMatching +OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:7463 semapv:UnspecifiedMatching +OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:MTNR1A semapv:UnspecifiedMatching +OMIM:600665 MTNR1A skos:exactMatch ncbigene:4543 semapv:UnspecifiedMatching +OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch MONDO:0010916 semapv:UnspecifiedMatching +OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:4040 semapv:UnspecifiedMatching +OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:FZD2 semapv:UnspecifiedMatching +OMIM:600667 FZD2 skos:exactMatch ncbigene:2535 semapv:UnspecifiedMatching +OMIM:600668 chondrocalcinosis 1 skos:exactMatch MONDO:0010917 semapv:UnspecifiedMatching +OMIM:600668 chondrocalcinosis 1 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching +OMIM:600668 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching +OMIM:600669 epilepsy, idiopathic generalized skos:exactMatch MONDO:0005579 semapv:UnspecifiedMatching +OMIM:600670 varicella, severe recurrent skos:exactMatch MONDO:0010919 semapv:UnspecifiedMatching +OMIM:600673 UBTF skos:exactMatch hgnc.symbol:12511 semapv:UnspecifiedMatching +OMIM:600673 UBTF skos:exactMatch hgnc.symbol:UBTF semapv:UnspecifiedMatching +OMIM:600673 UBTF skos:exactMatch ncbigene:7343 semapv:UnspecifiedMatching +OMIM:600674 microtia-anotia skos:exactMatch MONDO:0010920 semapv:UnspecifiedMatching +OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:12830 semapv:UnspecifiedMatching +OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:XRCC3 semapv:UnspecifiedMatching +OMIM:600675 XRCC3 skos:exactMatch ncbigene:7517 semapv:UnspecifiedMatching +OMIM:600676 CATR1 skos:exactMatch hgnc.symbol:1525 semapv:UnspecifiedMatching +OMIM:600676 CATR1 skos:exactMatch hgnc.symbol:CATR1 semapv:UnspecifiedMatching +OMIM:600676 CATR1 skos:exactMatch ncbigene:856 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch UMLS:C0879393 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch UMLS:C1833477 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:7329 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:MSH6 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch ncbigene:2956 semapv:UnspecifiedMatching +OMIM:600679 dermoid cysts, familial frontonasal skos:exactMatch MONDO:0010921 semapv:UnspecifiedMatching +OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:6263 semapv:UnspecifiedMatching +OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:KCNJ2 semapv:UnspecifiedMatching +OMIM:600681 KCNJ2 skos:exactMatch ncbigene:3759 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1420102 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1855577 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016683 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016684 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:10922 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:SLC16A1 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch ncbigene:6566 semapv:UnspecifiedMatching +OMIM:600684 LY9 skos:exactMatch hgnc.symbol:6730 semapv:UnspecifiedMatching +OMIM:600684 LY9 skos:exactMatch hgnc.symbol:LY9 semapv:UnspecifiedMatching +OMIM:600684 LY9 skos:exactMatch ncbigene:4063 semapv:UnspecifiedMatching +OMIM:600685 KPNA2 skos:exactMatch UMLS:C1416700 semapv:UnspecifiedMatching +OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:6395 semapv:UnspecifiedMatching +OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:KPNA2 semapv:UnspecifiedMatching +OMIM:600685 KPNA2 skos:exactMatch ncbigene:3838 semapv:UnspecifiedMatching +OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:6394 semapv:UnspecifiedMatching +OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:KPNA1 semapv:UnspecifiedMatching +OMIM:600686 KPNA1 skos:exactMatch ncbigene:3836 semapv:UnspecifiedMatching +OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:11805 semapv:UnspecifiedMatching +OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:TIAM1 semapv:UnspecifiedMatching +OMIM:600687 TIAM1 skos:exactMatch ncbigene:7074 semapv:UnspecifiedMatching +OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:2297 semapv:UnspecifiedMatching +OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:CPA2 semapv:UnspecifiedMatching +OMIM:600688 CPA2 skos:exactMatch ncbigene:1358 semapv:UnspecifiedMatching +OMIM:600690 TCTA skos:exactMatch hgnc.symbol:11692 semapv:UnspecifiedMatching +OMIM:600690 TCTA skos:exactMatch hgnc.symbol:TCTA semapv:UnspecifiedMatching +OMIM:600690 TCTA skos:exactMatch ncbigene:6988 semapv:UnspecifiedMatching +OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:10995 semapv:UnspecifiedMatching +OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:SLC27A1 semapv:UnspecifiedMatching +OMIM:600691 SLC27A1 skos:exactMatch ncbigene:376497 semapv:UnspecifiedMatching +OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:11950 semapv:UnspecifiedMatching +OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:TNNT3 semapv:UnspecifiedMatching +OMIM:600692 TNNT3 skos:exactMatch ncbigene:7140 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch UMLS:C1419054 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:9583 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:PTBP1 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch ncbigene:5725 semapv:UnspecifiedMatching +OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:6021 semapv:UnspecifiedMatching +OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:IL6ST semapv:UnspecifiedMatching +OMIM:600694 IL6ST skos:exactMatch ncbigene:3572 semapv:UnspecifiedMatching +OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:3149 semapv:UnspecifiedMatching +OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:ECH1 semapv:UnspecifiedMatching +OMIM:600696 ECH1 skos:exactMatch ncbigene:1891 semapv:UnspecifiedMatching +OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:9888 semapv:UnspecifiedMatching +OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:RBBP5 semapv:UnspecifiedMatching +OMIM:600697 RBBP5 skos:exactMatch ncbigene:5929 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch UMLS:C1333906 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:5009 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:HMGA2 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch ncbigene:8091 semapv:UnspecifiedMatching +OMIM:600700 LPP skos:exactMatch hgnc.symbol:6679 semapv:UnspecifiedMatching +OMIM:600700 LPP skos:exactMatch hgnc.symbol:LPP semapv:UnspecifiedMatching +OMIM:600700 LPP skos:exactMatch ncbigene:4026 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch UMLS:C1333903 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:5010 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:HMGA1 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch ncbigene:3159 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C1419866 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C3280415 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch UMLS:C5193184 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:10596 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:SCN8A semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch ncbigene:6334 semapv:UnspecifiedMatching +OMIM:600705 satoyoshi syndrome skos:exactMatch MONDO:0010922 semapv:UnspecifiedMatching +OMIM:600706 proximal myopathy with focal depletion of mitochondria skos:exactMatch MONDO:0010923 semapv:UnspecifiedMatching +OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:11304 semapv:UnspecifiedMatching +OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:SRP9 semapv:UnspecifiedMatching +OMIM:600707 SRP9 skos:exactMatch ncbigene:6726 semapv:UnspecifiedMatching +OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:11299 semapv:UnspecifiedMatching +OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:SRP14 semapv:UnspecifiedMatching +OMIM:600708 SRP14 skos:exactMatch ncbigene:6727 semapv:UnspecifiedMatching +OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:5330 semapv:UnspecifiedMatching +OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:IARS1 semapv:UnspecifiedMatching +OMIM:600709 IARS1 skos:exactMatch ncbigene:3376 semapv:UnspecifiedMatching +OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:3493 semapv:UnspecifiedMatching +OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:ETV4 semapv:UnspecifiedMatching +OMIM:600711 ETV4 skos:exactMatch ncbigene:2118 semapv:UnspecifiedMatching +OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:5044 semapv:UnspecifiedMatching +OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:HNRNPK semapv:UnspecifiedMatching +OMIM:600712 HNRNPK skos:exactMatch ncbigene:3190 semapv:UnspecifiedMatching +OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:5208 semapv:UnspecifiedMatching +OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:HSD11B1 semapv:UnspecifiedMatching +OMIM:600713 HSD11B1 skos:exactMatch ncbigene:3290 semapv:UnspecifiedMatching +OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:3064 semapv:UnspecifiedMatching +OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:DUSP1 semapv:UnspecifiedMatching +OMIM:600714 DUSP1 skos:exactMatch ncbigene:1843 semapv:UnspecifiedMatching +OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:11788 semapv:UnspecifiedMatching +OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:THBS4 semapv:UnspecifiedMatching +OMIM:600715 THBS4 skos:exactMatch ncbigene:7060 semapv:UnspecifiedMatching +OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:9652 semapv:UnspecifiedMatching +OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:PTPN22 semapv:UnspecifiedMatching +OMIM:600716 PTPN22 skos:exactMatch ncbigene:26191 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch UMLS:C1417761 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:7874 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:NOS2P2 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch ncbigene:201288 semapv:UnspecifiedMatching +OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch UMLS:C1417762 semapv:UnspecifiedMatching +OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:7875 semapv:UnspecifiedMatching +OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:NOS2P1 semapv:UnspecifiedMatching +OMIM:600721 d-2-hydroxyglutaric aciduria 1 skos:exactMatch MONDO:0024554 semapv:UnspecifiedMatching +OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:9325 semapv:UnspecifiedMatching +OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:PPT1 semapv:UnspecifiedMatching +OMIM:600722 PPT1 skos:exactMatch ncbigene:5538 semapv:UnspecifiedMatching +OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:7220 semapv:UnspecifiedMatching +OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:MPP2 semapv:UnspecifiedMatching +OMIM:600723 MPP2 skos:exactMatch ncbigene:4355 semapv:UnspecifiedMatching +OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:2151 semapv:UnspecifiedMatching +OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:CNGB1 semapv:UnspecifiedMatching +OMIM:600724 CNGB1 skos:exactMatch ncbigene:1258 semapv:UnspecifiedMatching +OMIM:600725 SHH skos:exactMatch hgnc.symbol:10848 semapv:UnspecifiedMatching +OMIM:600725 SHH skos:exactMatch hgnc.symbol:SHH semapv:UnspecifiedMatching +OMIM:600725 SHH skos:exactMatch ncbigene:6469 semapv:UnspecifiedMatching +OMIM:600726 IHH skos:exactMatch hgnc.symbol:5956 semapv:UnspecifiedMatching +OMIM:600726 IHH skos:exactMatch hgnc.symbol:IHH semapv:UnspecifiedMatching +OMIM:600726 IHH skos:exactMatch ncbigene:3549 semapv:UnspecifiedMatching +OMIM:600727 NFIA skos:exactMatch hgnc.symbol:7784 semapv:UnspecifiedMatching +OMIM:600727 NFIA skos:exactMatch hgnc.symbol:NFIA semapv:UnspecifiedMatching +OMIM:600727 NFIA skos:exactMatch ncbigene:4774 semapv:UnspecifiedMatching +OMIM:600728 NFIB skos:exactMatch hgnc.symbol:7785 semapv:UnspecifiedMatching +OMIM:600728 NFIB skos:exactMatch hgnc.symbol:NFIB semapv:UnspecifiedMatching +OMIM:600728 NFIB skos:exactMatch ncbigene:4781 semapv:UnspecifiedMatching +OMIM:600729 NFIC skos:exactMatch hgnc.symbol:7786 semapv:UnspecifiedMatching +OMIM:600729 NFIC skos:exactMatch hgnc.symbol:NFIC semapv:UnspecifiedMatching +OMIM:600729 NFIC skos:exactMatch ncbigene:4782 semapv:UnspecifiedMatching +OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:4522 semapv:UnspecifiedMatching +OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:NPBWR1 semapv:UnspecifiedMatching +OMIM:600730 NPBWR1 skos:exactMatch ncbigene:2831 semapv:UnspecifiedMatching +OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:4530 semapv:UnspecifiedMatching +OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:NPBWR2 semapv:UnspecifiedMatching +OMIM:600731 GPR8 skos:exactMatch ncbigene:2832 semapv:UnspecifiedMatching +OMIM:600732 ARL4D skos:exactMatch UMLS:C1824202 semapv:UnspecifiedMatching +OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:656 semapv:UnspecifiedMatching +OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:ARL4D semapv:UnspecifiedMatching +OMIM:600732 ARL4D skos:exactMatch ncbigene:379 semapv:UnspecifiedMatching +OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:6107 semapv:UnspecifiedMatching +OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:PDX1 semapv:UnspecifiedMatching +OMIM:600733 PDX1 skos:exactMatch ncbigene:3651 semapv:UnspecifiedMatching +OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:6266 semapv:UnspecifiedMatching +OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:KCNJ5 semapv:UnspecifiedMatching +OMIM:600734 KCNJ5 skos:exactMatch ncbigene:3762 semapv:UnspecifiedMatching +OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:5399 semapv:UnspecifiedMatching +OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:IFI35 semapv:UnspecifiedMatching +OMIM:600735 IFI35 skos:exactMatch ncbigene:3430 semapv:UnspecifiedMatching +OMIM:600736 velofacioskeletal syndrome skos:exactMatch MONDO:0010925 semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch UMLS:C1419941 semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:10722 semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:SELPLG semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch ncbigene:6404 semapv:UnspecifiedMatching +OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:10842 semapv:UnspecifiedMatching +OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:SHC1P2 semapv:UnspecifiedMatching +OMIM:600739 SHCL1 skos:exactMatch ncbigene:6466 semapv:UnspecifiedMatching +OMIM:600740 hypocalciuric hypercalcemia, familial, iia 3 skos:exactMatch MONDO:0010926 semapv:UnspecifiedMatching +OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:11774 semapv:UnspecifiedMatching +OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:TGFBR3 semapv:UnspecifiedMatching +OMIM:600742 TGFBR3 skos:exactMatch ncbigene:7049 semapv:UnspecifiedMatching +OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:11745 semapv:UnspecifiedMatching +OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:TFAP4 semapv:UnspecifiedMatching +OMIM:600743 TFAP4 skos:exactMatch ncbigene:7023 semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch UMLS:C1420699 semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch hgnc.symbol:11753 semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch hgnc.symbol:TFEB semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch ncbigene:7942 semapv:UnspecifiedMatching +OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:611 semapv:UnspecifiedMatching +OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:APOC4 semapv:UnspecifiedMatching +OMIM:600745 APOC4 skos:exactMatch ncbigene:346 semapv:UnspecifiedMatching +OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:1805 semapv:UnspecifiedMatching +OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:CDX1 semapv:UnspecifiedMatching +OMIM:600746 CDX1 skos:exactMatch ncbigene:1044 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch UMLS:C1420608 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch UMLS:C4748741 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:11597 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:TBX2 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch ncbigene:6909 semapv:UnspecifiedMatching +OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:11723 semapv:UnspecifiedMatching +OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:TMBIM6 semapv:UnspecifiedMatching +OMIM:600748 TMBIM6 skos:exactMatch ncbigene:7009 semapv:UnspecifiedMatching +OMIM:600749 CEBPE skos:exactMatch hgnc.symbol:1836 semapv:UnspecifiedMatching +OMIM:600749 CEBPE skos:exactMatch hgnc.symbol:CEBPE semapv:UnspecifiedMatching +OMIM:600749 CEBPE skos:exactMatch ncbigene:1053 semapv:UnspecifiedMatching +OMIM:600750 NPTX2 skos:exactMatch hgnc.symbol:7953 semapv:UnspecifiedMatching +OMIM:600750 NPTX2 skos:exactMatch hgnc.symbol:NPTX2 semapv:UnspecifiedMatching +OMIM:600750 NPTX2 skos:exactMatch ncbigene:4885 semapv:UnspecifiedMatching +OMIM:600751 SIGLEC1 skos:exactMatch hgnc.symbol:11127 semapv:UnspecifiedMatching +OMIM:600751 SIGLEC1 skos:exactMatch hgnc.symbol:SIGLEC1 semapv:UnspecifiedMatching +OMIM:600751 SIGLEC1 skos:exactMatch ncbigene:6614 semapv:UnspecifiedMatching +OMIM:600752 GPR12 skos:exactMatch hgnc.symbol:4466 semapv:UnspecifiedMatching +OMIM:600752 GPR12 skos:exactMatch hgnc.symbol:GPR12 semapv:UnspecifiedMatching +OMIM:600752 GPR12 skos:exactMatch ncbigene:2835 semapv:UnspecifiedMatching +OMIM:600753 GLG1 skos:exactMatch hgnc.symbol:4316 semapv:UnspecifiedMatching +OMIM:600753 GLG1 skos:exactMatch hgnc.symbol:GLG1 semapv:UnspecifiedMatching +OMIM:600753 GLG1 skos:exactMatch ncbigene:2734 semapv:UnspecifiedMatching +OMIM:600754 MMP14 skos:exactMatch hgnc.symbol:7160 semapv:UnspecifiedMatching +OMIM:600754 MMP14 skos:exactMatch hgnc.symbol:MMP14 semapv:UnspecifiedMatching +OMIM:600754 MMP14 skos:exactMatch ncbigene:4323 semapv:UnspecifiedMatching +OMIM:600755 SYN2 skos:exactMatch hgnc.symbol:11495 semapv:UnspecifiedMatching +OMIM:600755 SYN2 skos:exactMatch hgnc.symbol:SYN2 semapv:UnspecifiedMatching +OMIM:600755 SYN2 skos:exactMatch ncbigene:6854 semapv:UnspecifiedMatching +OMIM:600756 PTPA skos:exactMatch hgnc.symbol:9308 semapv:UnspecifiedMatching +OMIM:600756 PTPA skos:exactMatch hgnc.symbol:PTPA semapv:UnspecifiedMatching +OMIM:600756 PTPA skos:exactMatch ncbigene:5524 semapv:UnspecifiedMatching +OMIM:600757 orofacial cleft 3 skos:exactMatch MONDO:0010927 semapv:UnspecifiedMatching +OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:9611 semapv:UnspecifiedMatching +OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:PTK2 semapv:UnspecifiedMatching +OMIM:600758 PTK2 skos:exactMatch ncbigene:5747 semapv:UnspecifiedMatching +OMIM:600759 PSEN2 skos:exactMatch hgnc.symbol:9509 semapv:UnspecifiedMatching +OMIM:600759 PSEN2 skos:exactMatch hgnc.symbol:PSEN2 semapv:UnspecifiedMatching +OMIM:600759 PSEN2 skos:exactMatch ncbigene:5664 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch UMLS:C0221043 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch UMLS:C1419869 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch UMLS:C2749757 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:10600 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:SCNN1B semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch ncbigene:6338 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch UMLS:C1419871 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch UMLS:C2751324 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:10602 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:SCNN1G semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch ncbigene:6340 semapv:UnspecifiedMatching +OMIM:600762 human papillomavirus e5 central sequence-like 1 skos:exactMatch UMLS:C1415711 semapv:UnspecifiedMatching +OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:12022 semapv:UnspecifiedMatching +OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:TPT1 semapv:UnspecifiedMatching +OMIM:600763 TPT1 skos:exactMatch ncbigene:7178 semapv:UnspecifiedMatching +OMIM:600764 MR1 skos:exactMatch UMLS:C1415592 semapv:UnspecifiedMatching +OMIM:600764 MR1 skos:exactMatch hgnc.symbol:4975 semapv:UnspecifiedMatching +OMIM:600764 MR1 skos:exactMatch hgnc.symbol:MR1 semapv:UnspecifiedMatching +OMIM:600764 MR1 skos:exactMatch ncbigene:3140 semapv:UnspecifiedMatching +OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:4227 semapv:UnspecifiedMatching +OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:GDI2 semapv:UnspecifiedMatching +OMIM:600767 GDI2 skos:exactMatch ncbigene:2665 semapv:UnspecifiedMatching +OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:9661 semapv:UnspecifiedMatching +OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:PTPN9 semapv:UnspecifiedMatching +OMIM:600768 PTPN9 skos:exactMatch ncbigene:5780 semapv:UnspecifiedMatching +OMIM:600769 TSPAN8 skos:exactMatch UMLS:C1540088 semapv:UnspecifiedMatching +OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:11855 semapv:UnspecifiedMatching +OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:TSPAN8 semapv:UnspecifiedMatching +OMIM:600769 TSPAN8 skos:exactMatch ncbigene:7103 semapv:UnspecifiedMatching +OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:7516 semapv:UnspecifiedMatching +OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:MUC5B semapv:UnspecifiedMatching +OMIM:600770 MUC5B skos:exactMatch ncbigene:727897 semapv:UnspecifiedMatching +OMIM:600771 dwarfism, familial, with muscle spasms skos:exactMatch MONDO:0010928 semapv:UnspecifiedMatching +OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:11544 semapv:UnspecifiedMatching +OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:TAF11 semapv:UnspecifiedMatching +OMIM:600772 TAF11 skos:exactMatch ncbigene:6882 semapv:UnspecifiedMatching +OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:11545 semapv:UnspecifiedMatching +OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:TAF12 semapv:UnspecifiedMatching +OMIM:600773 TAF12 skos:exactMatch ncbigene:6883 semapv:UnspecifiedMatching +OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:11546 semapv:UnspecifiedMatching +OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:TAF13 semapv:UnspecifiedMatching +OMIM:600774 TAF13 skos:exactMatch ncbigene:6884 semapv:UnspecifiedMatching +OMIM:600775 craniosynostosis 4 skos:exactMatch MONDO:0010929 semapv:UnspecifiedMatching +OMIM:600776 fryns microphthalmia syndrome skos:exactMatch MONDO:0010930 semapv:UnspecifiedMatching +OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:12397 semapv:UnspecifiedMatching +OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:TTF1 semapv:UnspecifiedMatching +OMIM:600777 TTF1 skos:exactMatch ncbigene:7270 semapv:UnspecifiedMatching +OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:1785 semapv:UnspecifiedMatching +OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:CDKN1B semapv:UnspecifiedMatching +OMIM:600778 CDKN1B skos:exactMatch ncbigene:1027 semapv:UnspecifiedMatching +OMIM:600781 PYY skos:exactMatch hgnc.symbol:9748 semapv:UnspecifiedMatching +OMIM:600781 PYY skos:exactMatch hgnc.symbol:PYY semapv:UnspecifiedMatching +OMIM:600781 PYY skos:exactMatch ncbigene:5697 semapv:UnspecifiedMatching +OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:11513 semapv:UnspecifiedMatching +OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:SYT5 semapv:UnspecifiedMatching +OMIM:600782 SYT5 skos:exactMatch ncbigene:6861 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch UMLS:C1415474 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:4817 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:HARS2 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch ncbigene:23438 semapv:UnspecifiedMatching +OMIM:600784 GZMK skos:exactMatch hgnc.symbol:4711 semapv:UnspecifiedMatching +OMIM:600784 GZMK skos:exactMatch hgnc.symbol:GZMK semapv:UnspecifiedMatching +OMIM:600784 GZMK skos:exactMatch ncbigene:3003 semapv:UnspecifiedMatching +OMIM:600785 vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor skos:exactMatch MONDO:0010931 semapv:UnspecifiedMatching +OMIM:600786 ELOA skos:exactMatch hgnc.symbol:11620 semapv:UnspecifiedMatching +OMIM:600786 ELOA skos:exactMatch hgnc.symbol:ELOA semapv:UnspecifiedMatching +OMIM:600786 ELOA skos:exactMatch ncbigene:6924 semapv:UnspecifiedMatching +OMIM:600787 ELOB skos:exactMatch hgnc.symbol:11619 semapv:UnspecifiedMatching +OMIM:600787 ELOB skos:exactMatch hgnc.symbol:ELOB semapv:UnspecifiedMatching +OMIM:600787 ELOB skos:exactMatch ncbigene:6923 semapv:UnspecifiedMatching +OMIM:600788 ELOC skos:exactMatch hgnc.symbol:11617 semapv:UnspecifiedMatching +OMIM:600788 ELOC skos:exactMatch hgnc.symbol:ELOC semapv:UnspecifiedMatching +OMIM:600788 ELOC skos:exactMatch ncbigene:6921 semapv:UnspecifiedMatching +OMIM:600789 RPL23L skos:exactMatch hgnc.symbol:10322 semapv:UnspecifiedMatching +OMIM:600789 RPL23L skos:exactMatch hgnc.symbol:MRPL23 semapv:UnspecifiedMatching +OMIM:600789 RPL23L skos:exactMatch ncbigene:6150 semapv:UnspecifiedMatching +OMIM:600790 chorioretinal atrophy, progressive bifocal skos:exactMatch MONDO:0010932 semapv:UnspecifiedMatching +OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct skos:exactMatch MONDO:0010933 semapv:UnspecifiedMatching +OMIM:600792 deafness, autosomal recessive 5 skos:exactMatch MONDO:0000912 semapv:UnspecifiedMatching +OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch MONDO:0015353 semapv:UnspecifiedMatching +OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching +OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C1833308 semapv:UnspecifiedMatching +OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching +OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch MONDO:0010936 semapv:UnspecifiedMatching +OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:10766 semapv:UnspecifiedMatching +OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:SF3A2 semapv:UnspecifiedMatching +OMIM:600796 SF3A2 skos:exactMatch ncbigene:8175 semapv:UnspecifiedMatching +OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:6126 semapv:UnspecifiedMatching +OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:IRS2 semapv:UnspecifiedMatching +OMIM:600797 IRS2 skos:exactMatch ncbigene:8660 semapv:UnspecifiedMatching +OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:9707 semapv:UnspecifiedMatching +OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:NECTIN2 semapv:UnspecifiedMatching +OMIM:600798 NECTIN2 skos:exactMatch ncbigene:5819 semapv:UnspecifiedMatching +OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:1078 semapv:UnspecifiedMatching +OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:BMPR2 semapv:UnspecifiedMatching +OMIM:600799 BMPR2 skos:exactMatch ncbigene:659 semapv:UnspecifiedMatching +OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:7626 semapv:UnspecifiedMatching +OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:NAB1 semapv:UnspecifiedMatching +OMIM:600800 NAB1 skos:exactMatch ncbigene:4664 semapv:UnspecifiedMatching +OMIM:600801 isoproterenol-mediated vasodilatation skos:exactMatch MONDO:0010937 semapv:UnspecifiedMatching +OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative skos:exactMatch MONDO:0010938 semapv:UnspecifiedMatching +OMIM:600803 gallbladder disease 1 skos:exactMatch MONDO:0010939 semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch UMLS:C1442506 semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:7464 semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:MTNR1B semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch ncbigene:4544 semapv:UnspecifiedMatching +OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:6483 semapv:UnspecifiedMatching +OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:LAMA3 semapv:UnspecifiedMatching +OMIM:600805 LAMA3 skos:exactMatch ncbigene:3909 semapv:UnspecifiedMatching +OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:2155 semapv:UnspecifiedMatching +OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:CNN1 semapv:UnspecifiedMatching +OMIM:600806 CNN1 skos:exactMatch ncbigene:1264 semapv:UnspecifiedMatching +OMIM:600807 asthma, susceptibility to skos:exactMatch MONDO:0010940 semapv:UnspecifiedMatching +OMIM:600808 enuresis, nocturnal, 2 skos:exactMatch MONDO:0010941 semapv:UnspecifiedMatching +OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:9059 semapv:UnspecifiedMatching +OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:PLCB4 semapv:UnspecifiedMatching +OMIM:600810 PLCB4 skos:exactMatch ncbigene:5332 semapv:UnspecifiedMatching +OMIM:600811 DDB2 skos:exactMatch hgnc.symbol:2718 semapv:UnspecifiedMatching +OMIM:600811 DDB2 skos:exactMatch hgnc.symbol:DDB2 semapv:UnspecifiedMatching +OMIM:600811 DDB2 skos:exactMatch ncbigene:1643 semapv:UnspecifiedMatching +OMIM:600812 SRSF1 skos:exactMatch UMLS:C1419989 semapv:UnspecifiedMatching +OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:10780 semapv:UnspecifiedMatching +OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:SRSF1 semapv:UnspecifiedMatching +OMIM:600812 SRSF1 skos:exactMatch ncbigene:6426 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch UMLS:C1419992 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:10783 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:SRSF2 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch ncbigene:6427 semapv:UnspecifiedMatching +OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:7230 semapv:UnspecifiedMatching +OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:MRE11 semapv:UnspecifiedMatching +OMIM:600814 MRE11 skos:exactMatch ncbigene:4361 semapv:UnspecifiedMatching +OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:9176 semapv:UnspecifiedMatching +OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:POLD2 semapv:UnspecifiedMatching +OMIM:600815 POLD2 skos:exactMatch ncbigene:5425 semapv:UnspecifiedMatching +OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:5241 semapv:UnspecifiedMatching +OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:HSPA8 semapv:UnspecifiedMatching +OMIM:600816 HSPA8 skos:exactMatch ncbigene:3312 semapv:UnspecifiedMatching +OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:12722 semapv:UnspecifiedMatching +OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:VSNL1 semapv:UnspecifiedMatching +OMIM:600817 VSNL1 skos:exactMatch ncbigene:7447 semapv:UnspecifiedMatching +OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:11553 semapv:UnspecifiedMatching +OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:TAGLN semapv:UnspecifiedMatching +OMIM:600818 TAGLN skos:exactMatch ncbigene:6876 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch UMLS:C1414872 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:4023 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:FXR1 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch ncbigene:8087 semapv:UnspecifiedMatching +OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:649 semapv:UnspecifiedMatching +OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:ARCN1 semapv:UnspecifiedMatching +OMIM:600820 ARCN1 skos:exactMatch ncbigene:372 semapv:UnspecifiedMatching +OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:895 semapv:UnspecifiedMatching +OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:AVPR1A semapv:UnspecifiedMatching +OMIM:600821 AVPR1A skos:exactMatch ncbigene:552 semapv:UnspecifiedMatching +OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:11542 semapv:UnspecifiedMatching +OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:TAF9 semapv:UnspecifiedMatching +OMIM:600822 TAF9 skos:exactMatch ncbigene:6880 semapv:UnspecifiedMatching +OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:9491 semapv:UnspecifiedMatching +OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:PRSS8 semapv:UnspecifiedMatching +OMIM:600823 PRSS8 skos:exactMatch ncbigene:5652 semapv:UnspecifiedMatching +OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:2472 semapv:UnspecifiedMatching +OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:CSRP3 semapv:UnspecifiedMatching +OMIM:600824 CSRP3 skos:exactMatch ncbigene:8048 semapv:UnspecifiedMatching +OMIM:600825 RORA skos:exactMatch hgnc.symbol:10258 semapv:UnspecifiedMatching +OMIM:600825 RORA skos:exactMatch hgnc.symbol:RORA semapv:UnspecifiedMatching +OMIM:600825 RORA skos:exactMatch ncbigene:6095 semapv:UnspecifiedMatching +OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:2465 semapv:UnspecifiedMatching +OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:NCAN semapv:UnspecifiedMatching +OMIM:600826 CSPG3 skos:exactMatch ncbigene:1463 semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch UMLS:C1418427 semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch UMLS:C2751308 semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch UMLS:C2751309 semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:8787 semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:PDE6C semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch ncbigene:5146 semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch UMLS:C1412671 semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:850 semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:ATP5PO semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch ncbigene:539 semapv:UnspecifiedMatching +OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:6080 semapv:UnspecifiedMatching +OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:INPPL1 semapv:UnspecifiedMatching +OMIM:600829 INPPL1 skos:exactMatch ncbigene:3636 semapv:UnspecifiedMatching +OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:12962 semapv:UnspecifiedMatching +OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:TRIM26 semapv:UnspecifiedMatching +OMIM:600830 TRIM26 skos:exactMatch ncbigene:7726 semapv:UnspecifiedMatching +OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:2674 semapv:UnspecifiedMatching +OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:DAPK1 semapv:UnspecifiedMatching +OMIM:600831 DAPK1 skos:exactMatch ncbigene:1612 semapv:UnspecifiedMatching +OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:13233 semapv:UnspecifiedMatching +OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:ANP32A semapv:UnspecifiedMatching +OMIM:600832 ANP32A skos:exactMatch ncbigene:8125 semapv:UnspecifiedMatching +OMIM:600833 ST7 skos:exactMatch hgnc.symbol:11351 semapv:UnspecifiedMatching +OMIM:600833 ST7 skos:exactMatch hgnc.symbol:ST7 semapv:UnspecifiedMatching +OMIM:600833 ST7 skos:exactMatch ncbigene:7982 semapv:UnspecifiedMatching +OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:12953 semapv:UnspecifiedMatching +OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:ZNF165 semapv:UnspecifiedMatching +OMIM:600834 ZNF165 skos:exactMatch ncbigene:7718 semapv:UnspecifiedMatching +OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:10672 semapv:UnspecifiedMatching +OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:CXCL12 semapv:UnspecifiedMatching +OMIM:600835 CXCL12 skos:exactMatch ncbigene:6387 semapv:UnspecifiedMatching +OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:2395 semapv:UnspecifiedMatching +OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:CRYBA2 semapv:UnspecifiedMatching +OMIM:600836 CRYBA2 skos:exactMatch ncbigene:1412 semapv:UnspecifiedMatching +OMIM:600837 GDNF skos:exactMatch hgnc.symbol:4232 semapv:UnspecifiedMatching +OMIM:600837 GDNF skos:exactMatch hgnc.symbol:GDNF semapv:UnspecifiedMatching +OMIM:600837 GDNF skos:exactMatch ncbigene:2668 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C1421504 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394567 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394592 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:12765 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:FOXN1 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch ncbigene:8456 semapv:UnspecifiedMatching +OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:10910 semapv:UnspecifiedMatching +OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:SLC12A1 semapv:UnspecifiedMatching +OMIM:600839 SLC12A1 skos:exactMatch ncbigene:6557 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch UMLS:C1420091 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:10911 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:SLC12A2 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch ncbigene:6558 semapv:UnspecifiedMatching +OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 skos:exactMatch MONDO:0010942 semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch UMLS:C1415015 semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch UMLS:C3150714 semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch hgnc.symbol:4196 semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch hgnc.symbol:GCKR semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch ncbigene:2646 semapv:UnspecifiedMatching +OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:8534 semapv:UnspecifiedMatching +OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:P2RX3 semapv:UnspecifiedMatching +OMIM:600843 P2RX3 skos:exactMatch ncbigene:5024 semapv:UnspecifiedMatching +OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:15459 semapv:UnspecifiedMatching +OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:P2RX2 semapv:UnspecifiedMatching +OMIM:600844 P2RX2 skos:exactMatch ncbigene:22953 semapv:UnspecifiedMatching +OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:8533 semapv:UnspecifiedMatching +OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:P2RX1 semapv:UnspecifiedMatching +OMIM:600845 P2RX1 skos:exactMatch ncbigene:5023 semapv:UnspecifiedMatching +OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:8535 semapv:UnspecifiedMatching +OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:P2RX4 semapv:UnspecifiedMatching +OMIM:600846 P2RX4 skos:exactMatch ncbigene:5025 semapv:UnspecifiedMatching +OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:7673 semapv:UnspecifiedMatching +OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:NCOR2 semapv:UnspecifiedMatching +OMIM:600848 NCOR2 skos:exactMatch ncbigene:9612 semapv:UnspecifiedMatching +OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:7672 semapv:UnspecifiedMatching +OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:NCOR1 semapv:UnspecifiedMatching +OMIM:600849 NCOR1 skos:exactMatch ncbigene:9611 semapv:UnspecifiedMatching +OMIM:600850 schizophrenia 4 skos:exactMatch MONDO:0010943 semapv:UnspecifiedMatching +OMIM:600851 mitochondrial import-stimulating factor skos:exactMatch MONDO:0010944 semapv:UnspecifiedMatching +OMIM:600852 retinitis pigmentosa 17 skos:exactMatch MONDO:0010945 semapv:UnspecifiedMatching +OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:7680 semapv:UnspecifiedMatching +OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:NDST1 semapv:UnspecifiedMatching +OMIM:600853 NDST1 skos:exactMatch ncbigene:3340 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch UMLS:C1414204 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch UMLS:C3279839 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:3091 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:DYRK1A semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch ncbigene:1859 semapv:UnspecifiedMatching +OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:1786 semapv:UnspecifiedMatching +OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:CDKN1C semapv:UnspecifiedMatching +OMIM:600856 CDKN1C skos:exactMatch ncbigene:1028 semapv:UnspecifiedMatching +OMIM:600857 SDHA skos:exactMatch hgnc.symbol:10680 semapv:UnspecifiedMatching +OMIM:600857 SDHA skos:exactMatch hgnc.symbol:SDHA semapv:UnspecifiedMatching +OMIM:600857 SDHA skos:exactMatch ncbigene:6389 semapv:UnspecifiedMatching +OMIM:600858 cardiomyopathy, familial hypertrophic, 6 skos:exactMatch MONDO:0010946 semapv:UnspecifiedMatching +OMIM:600858 cardiomyopathy, familial hypertrophic, 6 skos:exactMatch UMLS:C1833236 semapv:UnspecifiedMatching +OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:20609 semapv:UnspecifiedMatching +OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:AIMP2 semapv:UnspecifiedMatching +OMIM:600859 AIMP2 skos:exactMatch ncbigene:7965 semapv:UnspecifiedMatching +OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:4662 semapv:UnspecifiedMatching +OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:GTF3A semapv:UnspecifiedMatching +OMIM:600860 GTF3A skos:exactMatch ncbigene:2971 semapv:UnspecifiedMatching +OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:9998 semapv:UnspecifiedMatching +OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:RGS2 semapv:UnspecifiedMatching +OMIM:600861 RGS2 skos:exactMatch ncbigene:5997 semapv:UnspecifiedMatching +OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:5175 semapv:UnspecifiedMatching +OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:AGFG1 semapv:UnspecifiedMatching +OMIM:600862 AGFG1 skos:exactMatch ncbigene:3267 semapv:UnspecifiedMatching +OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:2453 semapv:UnspecifiedMatching +OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:CSNK1E semapv:UnspecifiedMatching +OMIM:600863 CSNK1E skos:exactMatch ncbigene:1454 semapv:UnspecifiedMatching +OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:2452 semapv:UnspecifiedMatching +OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:CSNK1D semapv:UnspecifiedMatching +OMIM:600864 CSNK1D skos:exactMatch ncbigene:1453 semapv:UnspecifiedMatching +OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:10467 semapv:UnspecifiedMatching +OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:RTN1 semapv:UnspecifiedMatching +OMIM:600865 RTN1 skos:exactMatch ncbigene:6252 semapv:UnspecifiedMatching +OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:8762 semapv:UnspecifiedMatching +OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:PDCD2 semapv:UnspecifiedMatching +OMIM:600866 PDCD2 skos:exactMatch ncbigene:5134 semapv:UnspecifiedMatching +OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:11324 semapv:UnspecifiedMatching +OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:SSR2 semapv:UnspecifiedMatching +OMIM:600867 SSR2 skos:exactMatch ncbigene:6746 semapv:UnspecifiedMatching +OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:11323 semapv:UnspecifiedMatching +OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:SSR1 semapv:UnspecifiedMatching +OMIM:600868 SSR1 skos:exactMatch ncbigene:6745 semapv:UnspecifiedMatching +OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:4545 semapv:UnspecifiedMatching +OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:GRK6 semapv:UnspecifiedMatching +OMIM:600869 GRK6 skos:exactMatch ncbigene:2870 semapv:UnspecifiedMatching +OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:4544 semapv:UnspecifiedMatching +OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:GRK5 semapv:UnspecifiedMatching +OMIM:600870 GRK5 skos:exactMatch ncbigene:2869 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch UMLS:C1415044 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:4237 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:GFI1 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch ncbigene:2672 semapv:UnspecifiedMatching +OMIM:600873 CTBS skos:exactMatch hgnc.symbol:2496 semapv:UnspecifiedMatching +OMIM:600873 CTBS skos:exactMatch hgnc.symbol:CTBS semapv:UnspecifiedMatching +OMIM:600873 CTBS skos:exactMatch ncbigene:1486 semapv:UnspecifiedMatching +OMIM:600874 GNG5 skos:exactMatch hgnc.symbol:4408 semapv:UnspecifiedMatching +OMIM:600874 GNG5 skos:exactMatch hgnc.symbol:GNG5 semapv:UnspecifiedMatching +OMIM:600874 GNG5 skos:exactMatch ncbigene:2787 semapv:UnspecifiedMatching +OMIM:600875 ACYP1 skos:exactMatch hgnc.symbol:179 semapv:UnspecifiedMatching +OMIM:600875 ACYP1 skos:exactMatch hgnc.symbol:ACYP1 semapv:UnspecifiedMatching +OMIM:600875 ACYP1 skos:exactMatch ncbigene:97 semapv:UnspecifiedMatching +OMIM:600876 STX3 skos:exactMatch hgnc.symbol:11438 semapv:UnspecifiedMatching +OMIM:600876 STX3 skos:exactMatch hgnc.symbol:STX3 semapv:UnspecifiedMatching +OMIM:600876 STX3 skos:exactMatch ncbigene:6809 semapv:UnspecifiedMatching +OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:6267 semapv:UnspecifiedMatching +OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:KCNJ6 semapv:UnspecifiedMatching +OMIM:600877 KCNJ6 skos:exactMatch ncbigene:3763 semapv:UnspecifiedMatching +OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:7996 semapv:UnspecifiedMatching +OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:NRF1 semapv:UnspecifiedMatching +OMIM:600879 NRF1 skos:exactMatch ncbigene:4899 semapv:UnspecifiedMatching +OMIM:600880 budd-chiari syndrome skos:exactMatch MONDO:0010947 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch MONDO:0010948 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:441452 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch UMLS:C1833229 semapv:UnspecifiedMatching +OMIM:600882 charcot-marie-tooth disease, axonal, iia 2b skos:exactMatch MONDO:0010949 semapv:UnspecifiedMatching +OMIM:600883 iia 1 diabetes mellitus 8 skos:exactMatch MONDO:0010950 semapv:UnspecifiedMatching +OMIM:600883 iia 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching +OMIM:600884 cardiomyopathy, dilated, 1b skos:exactMatch MONDO:0010951 semapv:UnspecifiedMatching +OMIM:600886 hyperferritinemia with or without cataract skos:exactMatch MONDO:0010952 semapv:UnspecifiedMatching +OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:7326 semapv:UnspecifiedMatching +OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:MSH3 semapv:UnspecifiedMatching +OMIM:600887 MSH3 skos:exactMatch ncbigene:4437 semapv:UnspecifiedMatching +OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:13209 semapv:UnspecifiedMatching +OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:ARHGEF5 semapv:UnspecifiedMatching +OMIM:600888 ARHGEF5 skos:exactMatch ncbigene:7984 semapv:UnspecifiedMatching +OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:4890 semapv:UnspecifiedMatching +OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:CFHR2 semapv:UnspecifiedMatching +OMIM:600889 CFHR2 skos:exactMatch ncbigene:3080 semapv:UnspecifiedMatching +OMIM:600890 HADHA skos:exactMatch hgnc.symbol:4801 semapv:UnspecifiedMatching +OMIM:600890 HADHA skos:exactMatch hgnc.symbol:HADHA semapv:UnspecifiedMatching +OMIM:600890 HADHA skos:exactMatch ncbigene:3030 semapv:UnspecifiedMatching +OMIM:600892 SIM2 skos:exactMatch UMLS:C1420068 semapv:UnspecifiedMatching +OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:10883 semapv:UnspecifiedMatching +OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:SIM2 semapv:UnspecifiedMatching +OMIM:600892 SIM2 skos:exactMatch ncbigene:6493 semapv:UnspecifiedMatching +OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:4464 semapv:UnspecifiedMatching +OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:PRLHR semapv:UnspecifiedMatching +OMIM:600895 PRLHR skos:exactMatch ncbigene:2834 semapv:UnspecifiedMatching +OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:4468 semapv:UnspecifiedMatching +OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:UTS2R semapv:UnspecifiedMatching +OMIM:600896 GPR14 skos:exactMatch ncbigene:2837 semapv:UnspecifiedMatching +OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:4281 semapv:UnspecifiedMatching +OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:GJA8 semapv:UnspecifiedMatching +OMIM:600897 GJA8 skos:exactMatch ncbigene:2703 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch UMLS:C1420318 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:11191 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:SOX11 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch ncbigene:6664 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch UMLS:C1335262 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch UMLS:C4016698 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch UMLS:C4016699 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:9413 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:PRKDC semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch ncbigene:5591 semapv:UnspecifiedMatching +OMIM:600900 SGCB skos:exactMatch hgnc.symbol:10806 semapv:UnspecifiedMatching +OMIM:600900 SGCB skos:exactMatch hgnc.symbol:SGCB semapv:UnspecifiedMatching +OMIM:600900 SGCB skos:exactMatch ncbigene:6443 semapv:UnspecifiedMatching +OMIM:600901 fanconi anemia, complementation group e skos:exactMatch MONDO:0010953 semapv:UnspecifiedMatching +OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:19685 semapv:UnspecifiedMatching +OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:SEPHS1 semapv:UnspecifiedMatching +OMIM:600902 SEPHS1 skos:exactMatch ncbigene:22929 semapv:UnspecifiedMatching +OMIM:600903 wiskott-aldrich syndrome, autosomal dominant skos:exactMatch MONDO:0010954 semapv:UnspecifiedMatching +OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:773 semapv:UnspecifiedMatching +OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:ASTN1 semapv:UnspecifiedMatching +OMIM:600904 ASTN1 skos:exactMatch ncbigene:460 semapv:UnspecifiedMatching +OMIM:600906 ectodermal dysplasia with mental retardation and syndactyly skos:exactMatch MONDO:0010955 semapv:UnspecifiedMatching +OMIM:600907 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch MONDO:0010956 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch UMLS:C1416926 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch UMLS:C4225300 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch hgnc.symbol:6708 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch hgnc.symbol:LSS semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch ncbigene:4047 semapv:UnspecifiedMatching +OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:6087 semapv:UnspecifiedMatching +OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:INSL4 semapv:UnspecifiedMatching +OMIM:600910 INSL4 skos:exactMatch ncbigene:3641 semapv:UnspecifiedMatching +OMIM:600911 MPPED2 skos:exactMatch hgnc.symbol:1180 semapv:UnspecifiedMatching +OMIM:600911 MPPED2 skos:exactMatch hgnc.symbol:MPPED2 semapv:UnspecifiedMatching +OMIM:600911 MPPED2 skos:exactMatch ncbigene:744 semapv:UnspecifiedMatching +OMIM:600912 TCF19 skos:exactMatch hgnc.symbol:11629 semapv:UnspecifiedMatching +OMIM:600912 TCF19 skos:exactMatch hgnc.symbol:TCF19 semapv:UnspecifiedMatching +OMIM:600912 TCF19 skos:exactMatch ncbigene:6941 semapv:UnspecifiedMatching +OMIM:600914 SRSF5 skos:exactMatch hgnc.symbol:10787 semapv:UnspecifiedMatching +OMIM:600914 SRSF5 skos:exactMatch hgnc.symbol:SRSF5 semapv:UnspecifiedMatching +OMIM:600914 SRSF5 skos:exactMatch ncbigene:6430 semapv:UnspecifiedMatching +OMIM:600915 NES skos:exactMatch hgnc.symbol:7756 semapv:UnspecifiedMatching +OMIM:600915 NES skos:exactMatch hgnc.symbol:NES semapv:UnspecifiedMatching +OMIM:600915 NES skos:exactMatch ncbigene:10763 semapv:UnspecifiedMatching +OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:6074 semapv:UnspecifiedMatching +OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:INPP4A semapv:UnspecifiedMatching +OMIM:600916 INPP4A skos:exactMatch ncbigene:3631 semapv:UnspecifiedMatching +OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:9291 semapv:UnspecifiedMatching +OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:PPP1R3A semapv:UnspecifiedMatching +OMIM:600917 PPP1R3A skos:exactMatch ncbigene:5506 semapv:UnspecifiedMatching +OMIM:600919 cardiac arrhythmia, ankyrin-b-related skos:exactMatch MONDO:0010958 semapv:UnspecifiedMatching +OMIM:600920 van den ende-gupta syndrome skos:exactMatch MONDO:0010959 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch UMLS:C1333540 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:3687 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:FGF9 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch ncbigene:2254 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch UMLS:C1334539 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch UMLS:C1608393 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch hgnc.symbol:7590 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch hgnc.symbol:MYLK semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch ncbigene:4638 semapv:UnspecifiedMatching +OMIM:600923 PPOX skos:exactMatch hgnc.symbol:9280 semapv:UnspecifiedMatching +OMIM:600923 PPOX skos:exactMatch hgnc.symbol:PPOX semapv:UnspecifiedMatching +OMIM:600923 PPOX skos:exactMatch ncbigene:5498 semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch UMLS:C1415043 semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch hgnc.symbol:4236 semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch hgnc.symbol:GFER semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch ncbigene:2671 semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch UMLS:C1335288 semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch hgnc.symbol:9673 semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch hgnc.symbol:PTPRJ semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch ncbigene:5795 semapv:UnspecifiedMatching +OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:9669 semapv:UnspecifiedMatching +OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:PTPRE semapv:UnspecifiedMatching +OMIM:600926 PTPRE skos:exactMatch ncbigene:5791 semapv:UnspecifiedMatching +OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:1790 semapv:UnspecifiedMatching +OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:CDKN2D semapv:UnspecifiedMatching +OMIM:600927 CDKN2D skos:exactMatch ncbigene:1032 semapv:UnspecifiedMatching +OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:14124 semapv:UnspecifiedMatching +OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:NPRL3 semapv:UnspecifiedMatching +OMIM:600928 NPRL3 skos:exactMatch ncbigene:8131 semapv:UnspecifiedMatching +OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:2397 semapv:UnspecifiedMatching +OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:CRYBB1 semapv:UnspecifiedMatching +OMIM:600929 CRYBB1 skos:exactMatch ncbigene:1414 semapv:UnspecifiedMatching +OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:11217 semapv:UnspecifiedMatching +OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:SPAM1 semapv:UnspecifiedMatching +OMIM:600930 SPAM1 skos:exactMatch ncbigene:6677 semapv:UnspecifiedMatching +OMIM:600931 protocadherin 3 skos:exactMatch MONDO:0010960 semapv:UnspecifiedMatching +OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:6270 semapv:UnspecifiedMatching +OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:KCNJ9 semapv:UnspecifiedMatching +OMIM:600932 KCNJ9 skos:exactMatch ncbigene:3765 semapv:UnspecifiedMatching +OMIM:600933 F2RL1 skos:exactMatch hgnc.symbol:3538 semapv:UnspecifiedMatching +OMIM:600933 F2RL1 skos:exactMatch hgnc.symbol:F2RL1 semapv:UnspecifiedMatching +OMIM:600933 F2RL1 skos:exactMatch ncbigene:2150 semapv:UnspecifiedMatching +OMIM:600934 FOLH1 skos:exactMatch hgnc.symbol:3788 semapv:UnspecifiedMatching +OMIM:600934 FOLH1 skos:exactMatch hgnc.symbol:FOLH1 semapv:UnspecifiedMatching +OMIM:600934 FOLH1 skos:exactMatch ncbigene:2346 semapv:UnspecifiedMatching +OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:6269 semapv:UnspecifiedMatching +OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:KCNJ8 semapv:UnspecifiedMatching +OMIM:600935 KCNJ8 skos:exactMatch ncbigene:3764 semapv:UnspecifiedMatching +OMIM:600936 HMMR skos:exactMatch hgnc.symbol:5012 semapv:UnspecifiedMatching +OMIM:600936 HMMR skos:exactMatch hgnc.symbol:HMMR semapv:UnspecifiedMatching +OMIM:600936 HMMR skos:exactMatch ncbigene:3161 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1416578 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C3152078 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C4225365 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394568 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:6257 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:KCNJ11 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch ncbigene:3767 semapv:UnspecifiedMatching +OMIM:600938 RBBP6 skos:exactMatch hgnc.symbol:9889 semapv:UnspecifiedMatching +OMIM:600938 RBBP6 skos:exactMatch hgnc.symbol:RBBP6 semapv:UnspecifiedMatching +OMIM:600938 RBBP6 skos:exactMatch ncbigene:5930 semapv:UnspecifiedMatching +OMIM:600939 IL11RA skos:exactMatch hgnc.symbol:5967 semapv:UnspecifiedMatching +OMIM:600939 IL11RA skos:exactMatch hgnc.symbol:IL11RA semapv:UnspecifiedMatching +OMIM:600939 IL11RA skos:exactMatch ncbigene:3590 semapv:UnspecifiedMatching +OMIM:600940 LIG3 skos:exactMatch hgnc.symbol:6600 semapv:UnspecifiedMatching +OMIM:600940 LIG3 skos:exactMatch hgnc.symbol:LIG3 semapv:UnspecifiedMatching +OMIM:600940 LIG3 skos:exactMatch ncbigene:3980 semapv:UnspecifiedMatching +OMIM:600941 BLVRB skos:exactMatch hgnc.symbol:1063 semapv:UnspecifiedMatching +OMIM:600941 BLVRB skos:exactMatch hgnc.symbol:BLVRB semapv:UnspecifiedMatching +OMIM:600941 BLVRB skos:exactMatch ncbigene:645 semapv:UnspecifiedMatching +OMIM:600943 SERPINH1 skos:exactMatch hgnc.symbol:1546 semapv:UnspecifiedMatching +OMIM:600943 SERPINH1 skos:exactMatch hgnc.symbol:SERPINH1 semapv:UnspecifiedMatching +OMIM:600943 SERPINH1 skos:exactMatch ncbigene:871 semapv:UnspecifiedMatching +OMIM:600944 DHPS skos:exactMatch hgnc.symbol:2869 semapv:UnspecifiedMatching +OMIM:600944 DHPS skos:exactMatch hgnc.symbol:DHPS semapv:UnspecifiedMatching +OMIM:600944 DHPS skos:exactMatch ncbigene:1725 semapv:UnspecifiedMatching +OMIM:600945 UCN skos:exactMatch hgnc.symbol:12516 semapv:UnspecifiedMatching +OMIM:600945 UCN skos:exactMatch hgnc.symbol:UCN semapv:UnspecifiedMatching +OMIM:600945 UCN skos:exactMatch ncbigene:7349 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C0271568 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C1415063 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C1858656 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C3888131 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C4016705 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C4016706 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch UMLS:C4016707 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch hgnc.symbol:4263 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch hgnc.symbol:GHR semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch ncbigene:2690 semapv:UnspecifiedMatching +OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:4812 semapv:UnspecifiedMatching +OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:HAP1 semapv:UnspecifiedMatching +OMIM:600947 HAP1 skos:exactMatch ncbigene:9001 semapv:UnspecifiedMatching +OMIM:600948 MOBP skos:exactMatch hgnc.symbol:7189 semapv:UnspecifiedMatching +OMIM:600948 MOBP skos:exactMatch hgnc.symbol:MOBP semapv:UnspecifiedMatching +OMIM:600948 MOBP skos:exactMatch ncbigene:4336 semapv:UnspecifiedMatching +OMIM:600950 AANAT skos:exactMatch hgnc.symbol:19 semapv:UnspecifiedMatching +OMIM:600950 AANAT skos:exactMatch hgnc.symbol:AANAT semapv:UnspecifiedMatching +OMIM:600950 AANAT skos:exactMatch ncbigene:15 semapv:UnspecifiedMatching +OMIM:600951 TERF1 skos:exactMatch hgnc.symbol:11728 semapv:UnspecifiedMatching +OMIM:600951 TERF1 skos:exactMatch hgnc.symbol:TERF1 semapv:UnspecifiedMatching +OMIM:600951 TERF1 skos:exactMatch ncbigene:7013 semapv:UnspecifiedMatching +OMIM:600952 transsexuality skos:exactMatch MONDO:0044268 semapv:UnspecifiedMatching +OMIM:600953 IL18 skos:exactMatch UMLS:C1334109 semapv:UnspecifiedMatching +OMIM:600953 IL18 skos:exactMatch hgnc.symbol:5986 semapv:UnspecifiedMatching +OMIM:600953 IL18 skos:exactMatch hgnc.symbol:IL18 semapv:UnspecifiedMatching +OMIM:600953 IL18 skos:exactMatch ncbigene:3606 semapv:UnspecifiedMatching +OMIM:600954 DAP skos:exactMatch hgnc.symbol:2672 semapv:UnspecifiedMatching +OMIM:600954 DAP skos:exactMatch hgnc.symbol:DAP semapv:UnspecifiedMatching +OMIM:600954 DAP skos:exactMatch ncbigene:1611 semapv:UnspecifiedMatching +OMIM:600955 proprotein convertase 1/3 deficiency skos:exactMatch MONDO:0010961 semapv:UnspecifiedMatching +OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:465 semapv:UnspecifiedMatching +OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:AMHR2 semapv:UnspecifiedMatching +OMIM:600956 AMHR2 skos:exactMatch ncbigene:269 semapv:UnspecifiedMatching +OMIM:600957 AMH skos:exactMatch hgnc.symbol:464 semapv:UnspecifiedMatching +OMIM:600957 AMH skos:exactMatch hgnc.symbol:AMH semapv:UnspecifiedMatching +OMIM:600957 AMH skos:exactMatch ncbigene:268 semapv:UnspecifiedMatching +OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:7551 semapv:UnspecifiedMatching +OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:MYBPC3 semapv:UnspecifiedMatching +OMIM:600958 MYBPC3 skos:exactMatch ncbigene:4607 semapv:UnspecifiedMatching +OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:2231 semapv:UnspecifiedMatching +OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:COPB1 semapv:UnspecifiedMatching +OMIM:600959 COPB1 skos:exactMatch ncbigene:1315 semapv:UnspecifiedMatching +OMIM:600960 SET skos:exactMatch hgnc.symbol:10760 semapv:UnspecifiedMatching +OMIM:600960 SET skos:exactMatch hgnc.symbol:SET semapv:UnspecifiedMatching +OMIM:600960 SET skos:exactMatch ncbigene:6418 semapv:UnspecifiedMatching +OMIM:600962 palmoplantar keratoderma, nonepidermolytic skos:exactMatch MONDO:0010962 semapv:UnspecifiedMatching +OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:10891 semapv:UnspecifiedMatching +OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:SIX5 semapv:UnspecifiedMatching +OMIM:600963 SIX5 skos:exactMatch ncbigene:147912 semapv:UnspecifiedMatching +OMIM:600965 deafness, autosomal dominant 6 skos:exactMatch MONDO:0010963 semapv:UnspecifiedMatching +OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:6628 semapv:UnspecifiedMatching +OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:LLGL1 semapv:UnspecifiedMatching +OMIM:600966 LLGL1 skos:exactMatch ncbigene:3996 semapv:UnspecifiedMatching +OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:3119 semapv:UnspecifiedMatching +OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:E2F5 semapv:UnspecifiedMatching +OMIM:600967 E2F5 skos:exactMatch ncbigene:1875 semapv:UnspecifiedMatching +OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:10912 semapv:UnspecifiedMatching +OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:SLC12A3 semapv:UnspecifiedMatching +OMIM:600968 SLC12A3 skos:exactMatch ncbigene:6559 semapv:UnspecifiedMatching +OMIM:600969 epiphyseal dysplasia, multiple, 3 skos:exactMatch MONDO:0010964 semapv:UnspecifiedMatching +OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:7605 semapv:UnspecifiedMatching +OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:MYO6 semapv:UnspecifiedMatching +OMIM:600970 MYO6 skos:exactMatch ncbigene:4646 semapv:UnspecifiedMatching +OMIM:600971 deafness, autosomal recessive 6 skos:exactMatch MONDO:0010965 semapv:UnspecifiedMatching +OMIM:600972 achondrogenesis, iia 1b skos:exactMatch MONDO:0010966 semapv:UnspecifiedMatching +OMIM:600974 deafness, autosomal recessive 7 skos:exactMatch MONDO:0010967 semapv:UnspecifiedMatching +OMIM:600975 glaucoma 3, primary infantile, B skos:exactMatch MONDO:0010968 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch UMLS:C0812278 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:3595 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:FAT1 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch ncbigene:2195 semapv:UnspecifiedMatching +OMIM:600977 cone-rod dystrophy 5 skos:exactMatch MONDO:0010969 semapv:UnspecifiedMatching +OMIM:600978 LTB skos:exactMatch hgnc.symbol:6711 semapv:UnspecifiedMatching +OMIM:600978 LTB skos:exactMatch hgnc.symbol:LTB semapv:UnspecifiedMatching +OMIM:600978 LTB skos:exactMatch ncbigene:4050 semapv:UnspecifiedMatching +OMIM:600979 LTBR skos:exactMatch hgnc.symbol:6718 semapv:UnspecifiedMatching +OMIM:600979 LTBR skos:exactMatch hgnc.symbol:LTBR semapv:UnspecifiedMatching +OMIM:600979 LTBR skos:exactMatch ncbigene:4055 semapv:UnspecifiedMatching +OMIM:600980 DMP1 skos:exactMatch hgnc.symbol:2932 semapv:UnspecifiedMatching +OMIM:600980 DMP1 skos:exactMatch hgnc.symbol:DMP1 semapv:UnspecifiedMatching +OMIM:600980 DMP1 skos:exactMatch ncbigene:1758 semapv:UnspecifiedMatching +OMIM:600981 PGM5 skos:exactMatch hgnc.symbol:8908 semapv:UnspecifiedMatching +OMIM:600981 PGM5 skos:exactMatch hgnc.symbol:PGM5 semapv:UnspecifiedMatching +OMIM:600981 PGM5 skos:exactMatch ncbigene:5239 semapv:UnspecifiedMatching +OMIM:600982 MAP3K1 skos:exactMatch hgnc.symbol:6848 semapv:UnspecifiedMatching +OMIM:600982 MAP3K1 skos:exactMatch hgnc.symbol:MAP3K1 semapv:UnspecifiedMatching +OMIM:600982 MAP3K1 skos:exactMatch ncbigene:4214 semapv:UnspecifiedMatching +OMIM:600983 NR3C2 skos:exactMatch hgnc.symbol:7979 semapv:UnspecifiedMatching +OMIM:600983 NR3C2 skos:exactMatch hgnc.symbol:NR3C2 semapv:UnspecifiedMatching +OMIM:600983 NR3C2 skos:exactMatch ncbigene:4306 semapv:UnspecifiedMatching +OMIM:600984 ATF6B skos:exactMatch hgnc.symbol:2349 semapv:UnspecifiedMatching +OMIM:600984 ATF6B skos:exactMatch hgnc.symbol:ATF6B semapv:UnspecifiedMatching +OMIM:600984 ATF6B skos:exactMatch ncbigene:1388 semapv:UnspecifiedMatching +OMIM:600985 TNXB skos:exactMatch hgnc.symbol:11976 semapv:UnspecifiedMatching +OMIM:600985 TNXB skos:exactMatch hgnc.symbol:TNXB semapv:UnspecifiedMatching +OMIM:600985 TNXB skos:exactMatch ncbigene:7148 semapv:UnspecifiedMatching +OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:19019 semapv:UnspecifiedMatching +OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:TRIM46 semapv:UnspecifiedMatching +OMIM:600986 TRIM46 skos:exactMatch ncbigene:80128 semapv:UnspecifiedMatching +OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development skos:exactMatch MONDO:0010970 semapv:UnspecifiedMatching +OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:6825 semapv:UnspecifiedMatching +OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:MAN2A2 semapv:UnspecifiedMatching +OMIM:600988 MAN2A2 skos:exactMatch ncbigene:4122 semapv:UnspecifiedMatching +OMIM:600989 infundibulopelvic dysgenesis skos:exactMatch MONDO:0010971 semapv:UnspecifiedMatching +OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia skos:exactMatch MONDO:0010972 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C0345893 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C0694891 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832940 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:6770 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:SMAD4 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch ncbigene:4089 semapv:UnspecifiedMatching +OMIM:600994 deafness, autosomal dominant 5 skos:exactMatch MONDO:0010973 semapv:UnspecifiedMatching +OMIM:600995 nephrotic syndrome, iia 2 skos:exactMatch MONDO:0010974 semapv:UnspecifiedMatching +OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:3393 semapv:UnspecifiedMatching +OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:EPHB2 semapv:UnspecifiedMatching +OMIM:600997 EPHB2 skos:exactMatch ncbigene:2048 semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch UMLS:C1333685 semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch UMLS:C3806954 semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch UMLS:C4016711 semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:4390 semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:GNAQ semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch ncbigene:2776 semapv:UnspecifiedMatching +OMIM:600999 MAZ skos:exactMatch hgnc.symbol:6914 semapv:UnspecifiedMatching +OMIM:600999 MAZ skos:exactMatch hgnc.symbol:MAZ semapv:UnspecifiedMatching +OMIM:600999 MAZ skos:exactMatch ncbigene:4150 semapv:UnspecifiedMatching +OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive skos:exactMatch MONDO:0010976 semapv:UnspecifiedMatching +OMIM:601002 GSS skos:exactMatch hgnc.symbol:4624 semapv:UnspecifiedMatching +OMIM:601002 GSS skos:exactMatch hgnc.symbol:GSS semapv:UnspecifiedMatching +OMIM:601002 GSS skos:exactMatch ncbigene:2937 semapv:UnspecifiedMatching +OMIM:601003 brody disease skos:exactMatch MONDO:0010977 semapv:UnspecifiedMatching +OMIM:601004 portal vein, cavernous transformation of skos:exactMatch MONDO:0010978 semapv:UnspecifiedMatching +OMIM:601005 timothy syndrome skos:exactMatch MONDO:0010979 semapv:UnspecifiedMatching +OMIM:601007 LEPR skos:exactMatch hgnc.symbol:6554 semapv:UnspecifiedMatching +OMIM:601007 LEPR skos:exactMatch hgnc.symbol:LEPR semapv:UnspecifiedMatching +OMIM:601007 LEPR skos:exactMatch ncbigene:3953 semapv:UnspecifiedMatching +OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:11827 semapv:UnspecifiedMatching +OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:TJP1 semapv:UnspecifiedMatching +OMIM:601009 TJP1 skos:exactMatch ncbigene:7082 semapv:UnspecifiedMatching +OMIM:601010 TCF15 skos:exactMatch UMLS:C1420633 semapv:UnspecifiedMatching +OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:11627 semapv:UnspecifiedMatching +OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:TCF15 semapv:UnspecifiedMatching +OMIM:601010 TCF15 skos:exactMatch ncbigene:6939 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C0752124 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C1456413 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C1720416 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832885 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832903 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C4016713 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:1388 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:CACNA1A semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch ncbigene:773 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch UMLS:C1413056 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch UMLS:C5193128 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:1389 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:CACNA1B semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch ncbigene:774 semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch UMLS:C1413059 semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:1392 semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:CACNA1E semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch ncbigene:777 semapv:UnspecifiedMatching +OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:2900 semapv:UnspecifiedMatching +OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:DLG1 semapv:UnspecifiedMatching +OMIM:601014 DLG1 skos:exactMatch ncbigene:1739 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch UMLS:C1422736 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:14537 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:NPC2 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch ncbigene:10577 semapv:UnspecifiedMatching +OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch MONDO:0010980 semapv:UnspecifiedMatching +OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:11167 semapv:UnspecifiedMatching +OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:SNTA1 semapv:UnspecifiedMatching +OMIM:601017 SNTA1 skos:exactMatch ncbigene:6640 semapv:UnspecifiedMatching +OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:11056 semapv:UnspecifiedMatching +OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:SLC6A9 semapv:UnspecifiedMatching +OMIM:601019 SLC6A9 skos:exactMatch ncbigene:6536 semapv:UnspecifiedMatching +OMIM:601020 CD86 skos:exactMatch hgnc.symbol:1705 semapv:UnspecifiedMatching +OMIM:601020 CD86 skos:exactMatch hgnc.symbol:CD86 semapv:UnspecifiedMatching +OMIM:601020 CD86 skos:exactMatch ncbigene:942 semapv:UnspecifiedMatching +OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:8068 semapv:UnspecifiedMatching +OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:NUP98 semapv:UnspecifiedMatching +OMIM:601021 NUP98 skos:exactMatch ncbigene:4928 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1417711 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:7800 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:NFKBIL1 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch ncbigene:4795 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C1421437 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C4225244 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C5436950 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C5436951 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C5436952 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch UMLS:C5436953 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch hgnc.symbol:12666 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch hgnc.symbol:VCP semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch ncbigene:7415 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch UMLS:C1412444 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:564 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:AP2M1 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch ncbigene:1173 semapv:UnspecifiedMatching +OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:563 semapv:UnspecifiedMatching +OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:AP2B1 semapv:UnspecifiedMatching +OMIM:601025 AP2B1 skos:exactMatch ncbigene:163 semapv:UnspecifiedMatching +OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:561 semapv:UnspecifiedMatching +OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:AP2A1 semapv:UnspecifiedMatching +OMIM:601026 AP2A1 skos:exactMatch ncbigene:160 semapv:UnspecifiedMatching +OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies skos:exactMatch MONDO:0010981 semapv:UnspecifiedMatching +OMIM:601028 CD47 skos:exactMatch hgnc.symbol:1682 semapv:UnspecifiedMatching +OMIM:601028 CD47 skos:exactMatch hgnc.symbol:CD47 semapv:UnspecifiedMatching +OMIM:601028 CD47 skos:exactMatch ncbigene:961 semapv:UnspecifiedMatching +OMIM:601029 MEST skos:exactMatch UMLS:C1417122 semapv:UnspecifiedMatching +OMIM:601029 MEST skos:exactMatch hgnc.symbol:7028 semapv:UnspecifiedMatching +OMIM:601029 MEST skos:exactMatch hgnc.symbol:MEST semapv:UnspecifiedMatching +OMIM:601029 MEST skos:exactMatch ncbigene:4232 semapv:UnspecifiedMatching +OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:10047 semapv:UnspecifiedMatching +OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:RNASE4 semapv:UnspecifiedMatching +OMIM:601030 RNASE4 skos:exactMatch ncbigene:6038 semapv:UnspecifiedMatching +OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:19973 semapv:UnspecifiedMatching +OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:RHPN1 semapv:UnspecifiedMatching +OMIM:601031 RHPN1 skos:exactMatch ncbigene:114822 semapv:UnspecifiedMatching +OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:9405 semapv:UnspecifiedMatching +OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:PKN1 semapv:UnspecifiedMatching +OMIM:601032 PKN1 skos:exactMatch ncbigene:5585 semapv:UnspecifiedMatching +OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:6485 semapv:UnspecifiedMatching +OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:LAMA5 semapv:UnspecifiedMatching +OMIM:601033 LAMA5 skos:exactMatch ncbigene:3911 semapv:UnspecifiedMatching +OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:5041 semapv:UnspecifiedMatching +OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:HNRNPH1 semapv:UnspecifiedMatching +OMIM:601035 HNRNPH1 skos:exactMatch ncbigene:3187 semapv:UnspecifiedMatching +OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:5039 semapv:UnspecifiedMatching +OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:HNRNPF semapv:UnspecifiedMatching +OMIM:601037 HNRNPF skos:exactMatch ncbigene:3185 semapv:UnspecifiedMatching +OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:2885 semapv:UnspecifiedMatching +OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:DIO3 semapv:UnspecifiedMatching +OMIM:601038 DIO3 skos:exactMatch ncbigene:1735 semapv:UnspecifiedMatching +OMIM:601039 ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin skos:exactMatch MONDO:0010982 semapv:UnspecifiedMatching +OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:1664 semapv:UnspecifiedMatching +OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:SCARB1 semapv:UnspecifiedMatching +OMIM:601040 SCARB1 skos:exactMatch ncbigene:949 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch UMLS:C1420753 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:11838 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:TLE2 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch ncbigene:7089 semapv:UnspecifiedMatching +OMIM:601042 dystonia 9 skos:exactMatch MONDO:0010983 semapv:UnspecifiedMatching +OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:2515 semapv:UnspecifiedMatching +OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:CTNND1 semapv:UnspecifiedMatching +OMIM:601045 CTNND1 skos:exactMatch ncbigene:1500 semapv:UnspecifiedMatching +OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:7158 semapv:UnspecifiedMatching +OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:MMP12 semapv:UnspecifiedMatching +OMIM:601046 MMP12 skos:exactMatch ncbigene:4321 semapv:UnspecifiedMatching +OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:1527 semapv:UnspecifiedMatching +OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:CAV1 semapv:UnspecifiedMatching +OMIM:601047 CAV1 skos:exactMatch ncbigene:857 semapv:UnspecifiedMatching +OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:1528 semapv:UnspecifiedMatching +OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:CAV2 semapv:UnspecifiedMatching +OMIM:601048 CAV2 skos:exactMatch ncbigene:858 semapv:UnspecifiedMatching +OMIM:601051 MSLN skos:exactMatch hgnc.symbol:7371 semapv:UnspecifiedMatching +OMIM:601051 MSLN skos:exactMatch hgnc.symbol:MSLN semapv:UnspecifiedMatching +OMIM:601051 MSLN skos:exactMatch ncbigene:10232 semapv:UnspecifiedMatching +OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:8988 semapv:UnspecifiedMatching +OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:PIN1 semapv:UnspecifiedMatching +OMIM:601052 PIN1 skos:exactMatch ncbigene:5300 semapv:UnspecifiedMatching +OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:9103 semapv:UnspecifiedMatching +OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:PLXNB1 semapv:UnspecifiedMatching +OMIM:601053 PLXNB1 skos:exactMatch ncbigene:5364 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch UMLS:C1418661 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:9100 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:PLXNA2 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch ncbigene:5362 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch UMLS:C1418660 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:9099 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:PLXNA1 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch ncbigene:5361 semapv:UnspecifiedMatching +OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:991 semapv:UnspecifiedMatching +OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:BCL2A1 semapv:UnspecifiedMatching +OMIM:601056 BCL2A1 skos:exactMatch ncbigene:597 semapv:UnspecifiedMatching +OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:8765 semapv:UnspecifiedMatching +OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:PDCD6 semapv:UnspecifiedMatching +OMIM:601057 PDCD6 skos:exactMatch ncbigene:10016 semapv:UnspecifiedMatching +OMIM:601058 H3F3B skos:exactMatch hgnc.symbol:4765 semapv:UnspecifiedMatching +OMIM:601058 H3F3B skos:exactMatch hgnc.symbol:H3-3B semapv:UnspecifiedMatching +OMIM:601058 H3F3B skos:exactMatch ncbigene:3021 semapv:UnspecifiedMatching +OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:3357 semapv:UnspecifiedMatching +OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:ENPP2 semapv:UnspecifiedMatching +OMIM:601060 ENPP2 skos:exactMatch ncbigene:5168 semapv:UnspecifiedMatching +OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:11159 semapv:UnspecifiedMatching +OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:SNRPD2 semapv:UnspecifiedMatching +OMIM:601061 SNRPD2 skos:exactMatch ncbigene:6633 semapv:UnspecifiedMatching +OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:11160 semapv:UnspecifiedMatching +OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:SNRPD3 semapv:UnspecifiedMatching +OMIM:601062 SNRPD3 skos:exactMatch ncbigene:6634 semapv:UnspecifiedMatching +OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:11158 semapv:UnspecifiedMatching +OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:SNRPD1 semapv:UnspecifiedMatching +OMIM:601063 SNRPD1 skos:exactMatch ncbigene:6632 semapv:UnspecifiedMatching +OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:1107 semapv:UnspecifiedMatching +OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:ZFP36L1 semapv:UnspecifiedMatching +OMIM:601064 ZFP36L1 skos:exactMatch ncbigene:677 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch UMLS:C1412054 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch UMLS:C2750090 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:20 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:AARS1 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch ncbigene:16 semapv:UnspecifiedMatching +OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:8526 semapv:UnspecifiedMatching +OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:OXA1L semapv:UnspecifiedMatching +OMIM:601066 OXA1L skos:exactMatch ncbigene:5018 semapv:UnspecifiedMatching +OMIM:601067 usher syndrome, iia 1d skos:exactMatch MONDO:0010984 semapv:UnspecifiedMatching +OMIM:601068 epilepsy, familial adult myoclonic, 1 skos:exactMatch MONDO:0010985 semapv:UnspecifiedMatching +OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:13031 semapv:UnspecifiedMatching +OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:ZNF239 semapv:UnspecifiedMatching +OMIM:601069 ZNF239 skos:exactMatch ncbigene:8187 semapv:UnspecifiedMatching +OMIM:601070 IL15RA skos:exactMatch hgnc.symbol:5978 semapv:UnspecifiedMatching +OMIM:601070 IL15RA skos:exactMatch hgnc.symbol:IL15RA semapv:UnspecifiedMatching +OMIM:601070 IL15RA skos:exactMatch ncbigene:3601 semapv:UnspecifiedMatching +OMIM:601071 deafness, autosomal recessive 9 skos:exactMatch MONDO:0010986 semapv:UnspecifiedMatching +OMIM:601072 deafness, autosomal recessive 8 skos:exactMatch MONDO:0010987 semapv:UnspecifiedMatching +OMIM:601074 CELF1 skos:exactMatch hgnc.symbol:2549 semapv:UnspecifiedMatching +OMIM:601074 CELF1 skos:exactMatch hgnc.symbol:CELF1 semapv:UnspecifiedMatching +OMIM:601074 CELF1 skos:exactMatch ncbigene:10658 semapv:UnspecifiedMatching +OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction skos:exactMatch MONDO:0010988 semapv:UnspecifiedMatching +OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies skos:exactMatch MONDO:0010989 semapv:UnspecifiedMatching +OMIM:601077 KRT31 skos:exactMatch hgnc.symbol:6448 semapv:UnspecifiedMatching +OMIM:601077 KRT31 skos:exactMatch hgnc.symbol:KRT31 semapv:UnspecifiedMatching +OMIM:601077 KRT31 skos:exactMatch ncbigene:3881 semapv:UnspecifiedMatching +OMIM:601078 KRT82 skos:exactMatch hgnc.symbol:6459 semapv:UnspecifiedMatching +OMIM:601078 KRT82 skos:exactMatch hgnc.symbol:KRT82 semapv:UnspecifiedMatching +OMIM:601078 KRT82 skos:exactMatch ncbigene:3888 semapv:UnspecifiedMatching +OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc.symbol:12456 semapv:UnspecifiedMatching +OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc.symbol:ZRSR2P1 semapv:UnspecifiedMatching +OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:23020 semapv:UnspecifiedMatching +OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:U2AF1L4 semapv:UnspecifiedMatching +OMIM:601080 U2AF1L4 skos:exactMatch ncbigene:199746 semapv:UnspecifiedMatching +OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:66 semapv:UnspecifiedMatching +OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:ABCD2 semapv:UnspecifiedMatching +OMIM:601081 ABCD2 skos:exactMatch ncbigene:225 semapv:UnspecifiedMatching +OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:12484 semapv:UnspecifiedMatching +OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:UBE2H semapv:UnspecifiedMatching +OMIM:601082 UBE2H skos:exactMatch ncbigene:7328 semapv:UnspecifiedMatching +OMIM:601083 cd4/cd8 t-cell ratio skos:exactMatch MONDO:0010990 semapv:UnspecifiedMatching +OMIM:601086 laterality defects, autosomal dominant skos:exactMatch MONDO:0010991 semapv:UnspecifiedMatching +OMIM:601088 ayme-gripp syndrome skos:exactMatch MONDO:0010992 semapv:UnspecifiedMatching +OMIM:601088 ayme-gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching +OMIM:601088 ayme-gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch UMLS:C1414677 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:3809 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:FOXF1 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch ncbigene:2294 semapv:UnspecifiedMatching +OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:3800 semapv:UnspecifiedMatching +OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:FOXC1 semapv:UnspecifiedMatching +OMIM:601090 FOXC1 skos:exactMatch ncbigene:2296 semapv:UnspecifiedMatching +OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:3802 semapv:UnspecifiedMatching +OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:FOXD1 semapv:UnspecifiedMatching +OMIM:601091 FOXD1 skos:exactMatch ncbigene:2297 semapv:UnspecifiedMatching +OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:3805 semapv:UnspecifiedMatching +OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:FOXD4 semapv:UnspecifiedMatching +OMIM:601092 FOXD4 skos:exactMatch ncbigene:2298 semapv:UnspecifiedMatching +OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:3815 semapv:UnspecifiedMatching +OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:FOXI1 semapv:UnspecifiedMatching +OMIM:601093 FOXI1 skos:exactMatch ncbigene:2299 semapv:UnspecifiedMatching +OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:3808 semapv:UnspecifiedMatching +OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:FOXE3 semapv:UnspecifiedMatching +OMIM:601094 FOXE3 skos:exactMatch ncbigene:2301 semapv:UnspecifiedMatching +OMIM:601095 harrod syndrome skos:exactMatch MONDO:0010993 semapv:UnspecifiedMatching +OMIM:601096 spondyloepimetaphyseal dysplasia, micromelic skos:exactMatch MONDO:0010994 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C0393814 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C1418677 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C1832783 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C2677379 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C3495591 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C4016264 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C4016716 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch UMLS:C4016717 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:9118 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:PMP22 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch ncbigene:5376 semapv:UnspecifiedMatching +OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch MONDO:0010995 semapv:UnspecifiedMatching +OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch Orphanet:101083 semapv:UnspecifiedMatching +OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching +OMIM:601099 SLA skos:exactMatch hgnc.symbol:10902 semapv:UnspecifiedMatching +OMIM:601099 SLA skos:exactMatch hgnc.symbol:SLA semapv:UnspecifiedMatching +OMIM:601099 SLA skos:exactMatch ncbigene:6503 semapv:UnspecifiedMatching +OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:11375 semapv:UnspecifiedMatching +OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:HSPA13 semapv:UnspecifiedMatching +OMIM:601100 HSPA13 skos:exactMatch ncbigene:6782 semapv:UnspecifiedMatching +OMIM:601101 telangiectasia, hereditary hemorrhagic, iia 3 skos:exactMatch MONDO:0010996 semapv:UnspecifiedMatching +OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:3284 semapv:UnspecifiedMatching +OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:EIF4A2 semapv:UnspecifiedMatching +OMIM:601102 EIF4A2 skos:exactMatch ncbigene:1974 semapv:UnspecifiedMatching +OMIM:601103 MFAP5 skos:exactMatch hgnc.symbol:29673 semapv:UnspecifiedMatching +OMIM:601103 MFAP5 skos:exactMatch hgnc.symbol:MFAP5 semapv:UnspecifiedMatching +OMIM:601103 MFAP5 skos:exactMatch ncbigene:8076 semapv:UnspecifiedMatching +OMIM:601104 supranuclear palsy, progressive, 1 skos:exactMatch MONDO:0010997 semapv:UnspecifiedMatching +OMIM:601105 CTSK skos:exactMatch hgnc.symbol:2536 semapv:UnspecifiedMatching +OMIM:601105 CTSK skos:exactMatch hgnc.symbol:CTSK semapv:UnspecifiedMatching +OMIM:601105 CTSK skos:exactMatch ncbigene:1513 semapv:UnspecifiedMatching +OMIM:601107 ABCC2 skos:exactMatch hgnc.symbol:53 semapv:UnspecifiedMatching +OMIM:601107 ABCC2 skos:exactMatch hgnc.symbol:ABCC2 semapv:UnspecifiedMatching +OMIM:601107 ABCC2 skos:exactMatch ncbigene:1244 semapv:UnspecifiedMatching +OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:5301 semapv:UnspecifiedMatching +OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:HTR6 semapv:UnspecifiedMatching +OMIM:601109 HTR6 skos:exactMatch ncbigene:3362 semapv:UnspecifiedMatching +OMIM:601110 congenital disorder of glycosylation, iia id skos:exactMatch MONDO:0010998 semapv:UnspecifiedMatching +OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:12437 semapv:UnspecifiedMatching +OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:TXNRD1 semapv:UnspecifiedMatching +OMIM:601112 TXNRD1 skos:exactMatch ncbigene:7296 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch UMLS:C1415760 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:5237 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:HSPA4 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch ncbigene:3308 semapv:UnspecifiedMatching +OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:7221 semapv:UnspecifiedMatching +OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:MPP3 semapv:UnspecifiedMatching +OMIM:601114 MPP3 skos:exactMatch ncbigene:4356 semapv:UnspecifiedMatching +OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:4595 semapv:UnspecifiedMatching +OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:GRM3 semapv:UnspecifiedMatching +OMIM:601115 GRM3 skos:exactMatch ncbigene:2913 semapv:UnspecifiedMatching +OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:4600 semapv:UnspecifiedMatching +OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:GRM8 semapv:UnspecifiedMatching +OMIM:601116 GRM8 skos:exactMatch ncbigene:2918 semapv:UnspecifiedMatching +OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:11793 semapv:UnspecifiedMatching +OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:THOP1 semapv:UnspecifiedMatching +OMIM:601117 THOP1 skos:exactMatch ncbigene:7064 semapv:UnspecifiedMatching +OMIM:601118 CAMLG skos:exactMatch hgnc.symbol:1471 semapv:UnspecifiedMatching +OMIM:601118 CAMLG skos:exactMatch hgnc.symbol:CAMLG semapv:UnspecifiedMatching +OMIM:601118 CAMLG skos:exactMatch ncbigene:819 semapv:UnspecifiedMatching +OMIM:601119 CLPP skos:exactMatch hgnc.symbol:2084 semapv:UnspecifiedMatching +OMIM:601119 CLPP skos:exactMatch hgnc.symbol:CLPP semapv:UnspecifiedMatching +OMIM:601119 CLPP skos:exactMatch ncbigene:8192 semapv:UnspecifiedMatching +OMIM:601120 CDH5 skos:exactMatch hgnc.symbol:1764 semapv:UnspecifiedMatching +OMIM:601120 CDH5 skos:exactMatch hgnc.symbol:CDH5 semapv:UnspecifiedMatching +OMIM:601120 CDH5 skos:exactMatch ncbigene:1003 semapv:UnspecifiedMatching +OMIM:601121 PGF skos:exactMatch hgnc.symbol:8893 semapv:UnspecifiedMatching +OMIM:601121 PGF skos:exactMatch hgnc.symbol:PGF semapv:UnspecifiedMatching +OMIM:601121 PGF skos:exactMatch ncbigene:5228 semapv:UnspecifiedMatching +OMIM:601122 HTR2B skos:exactMatch hgnc.symbol:5294 semapv:UnspecifiedMatching +OMIM:601122 HTR2B skos:exactMatch hgnc.symbol:HTR2B semapv:UnspecifiedMatching +OMIM:601122 HTR2B skos:exactMatch ncbigene:3357 semapv:UnspecifiedMatching +OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:10869 semapv:UnspecifiedMatching +OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:ST8SIA1 semapv:UnspecifiedMatching +OMIM:601123 ST8SIA1 skos:exactMatch ncbigene:6489 semapv:UnspecifiedMatching +OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:10728 semapv:UnspecifiedMatching +OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:SEMA3F semapv:UnspecifiedMatching +OMIM:601124 SEMA3F skos:exactMatch ncbigene:6405 semapv:UnspecifiedMatching +OMIM:601125 HK2 skos:exactMatch hgnc.symbol:4923 semapv:UnspecifiedMatching +OMIM:601125 HK2 skos:exactMatch hgnc.symbol:HK2 semapv:UnspecifiedMatching +OMIM:601125 HK2 skos:exactMatch ncbigene:3099 semapv:UnspecifiedMatching +OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:11870 semapv:UnspecifiedMatching +OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:TMF1 semapv:UnspecifiedMatching +OMIM:601126 TMF1 skos:exactMatch ncbigene:7110 semapv:UnspecifiedMatching +OMIM:601127 fallot complex with severe mental and growth retardation skos:exactMatch MONDO:0010999 semapv:UnspecifiedMatching +OMIM:601128 H3F3A skos:exactMatch UMLS:C1415427 semapv:UnspecifiedMatching +OMIM:601128 H3F3A skos:exactMatch hgnc.symbol:4764 semapv:UnspecifiedMatching +OMIM:601128 H3F3A skos:exactMatch hgnc.symbol:H3-3A semapv:UnspecifiedMatching +OMIM:601128 H3F3A skos:exactMatch ncbigene:3020 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch UMLS:C1413873 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693948 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693986 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693987 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch hgnc.symbol:2622 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch hgnc.symbol:CYP2C8 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch ncbigene:1558 semapv:UnspecifiedMatching +OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:2623 semapv:UnspecifiedMatching +OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:CYP2C9 semapv:UnspecifiedMatching +OMIM:601130 CYP2C9 skos:exactMatch ncbigene:1559 semapv:UnspecifiedMatching +OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:2620 semapv:UnspecifiedMatching +OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:CYP2C18 semapv:UnspecifiedMatching +OMIM:601131 CYP2C18 skos:exactMatch ncbigene:1562 semapv:UnspecifiedMatching +OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:6465 semapv:UnspecifiedMatching +OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:KSR1 semapv:UnspecifiedMatching +OMIM:601132 KSR1 skos:exactMatch ncbigene:8844 semapv:UnspecifiedMatching +OMIM:601133 CYP2G1P skos:exactMatch UMLS:C1413879 semapv:UnspecifiedMatching +OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:2633 semapv:UnspecifiedMatching +OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:CYP2G1P semapv:UnspecifiedMatching +OMIM:601133 CYP2G1P skos:exactMatch ncbigene:22952 semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch UMLS:C1823138 semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch hgnc.symbol:6172 semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch hgnc.symbol:STT3A semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch ncbigene:3703 semapv:UnspecifiedMatching +OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:4186 semapv:UnspecifiedMatching +OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:GBX2 semapv:UnspecifiedMatching +OMIM:601135 GBX2 skos:exactMatch ncbigene:2637 semapv:UnspecifiedMatching +OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch MONDO:0011000 semapv:UnspecifiedMatching +OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:4690 semapv:UnspecifiedMatching +OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:GUCY2EP semapv:UnspecifiedMatching +OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:12964 semapv:UnspecifiedMatching +OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:ZNF175 semapv:UnspecifiedMatching +OMIM:601139 ZNF175 skos:exactMatch ncbigene:7728 semapv:UnspecifiedMatching +OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:9057 semapv:UnspecifiedMatching +OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:PPP1R14B semapv:UnspecifiedMatching +OMIM:601140 PPP1R14B skos:exactMatch ncbigene:26472 semapv:UnspecifiedMatching +OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:6228 semapv:UnspecifiedMatching +OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:KCNAB1 semapv:UnspecifiedMatching +OMIM:601141 KCNAB1 skos:exactMatch ncbigene:7881 semapv:UnspecifiedMatching +OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:6229 semapv:UnspecifiedMatching +OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:KCNAB2 semapv:UnspecifiedMatching +OMIM:601142 KCNAB2 skos:exactMatch ncbigene:8514 semapv:UnspecifiedMatching +OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:2711 semapv:UnspecifiedMatching +OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:DCTN1 semapv:UnspecifiedMatching +OMIM:601143 DCTN1 skos:exactMatch ncbigene:1639 semapv:UnspecifiedMatching +OMIM:601144 brugada syndrome 1 skos:exactMatch MONDO:0011001 semapv:UnspecifiedMatching +OMIM:601145 CSTB skos:exactMatch hgnc.symbol:2482 semapv:UnspecifiedMatching +OMIM:601145 CSTB skos:exactMatch hgnc.symbol:CSTB semapv:UnspecifiedMatching +OMIM:601145 CSTB skos:exactMatch ncbigene:1476 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C1333666 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C1832702 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C2930970 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C3554446 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:4220 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:GDF5 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch ncbigene:8200 semapv:UnspecifiedMatching +OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:4221 semapv:UnspecifiedMatching +OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:GDF6 semapv:UnspecifiedMatching +OMIM:601147 GDF6 skos:exactMatch ncbigene:392255 semapv:UnspecifiedMatching +OMIM:601148 SMCP skos:exactMatch hgnc.symbol:6962 semapv:UnspecifiedMatching +OMIM:601148 SMCP skos:exactMatch hgnc.symbol:SMCP semapv:UnspecifiedMatching +OMIM:601148 SMCP skos:exactMatch ncbigene:4184 semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch UMLS:C1415878 semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:5384 semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:IDH3A semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch ncbigene:3419 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch UMLS:C1413953 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:2736 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:DDX11 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch ncbigene:1663 semapv:UnspecifiedMatching +OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch UMLS:C1413954 semapv:UnspecifiedMatching +OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:2737 semapv:UnspecifiedMatching +OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:DDX12P semapv:UnspecifiedMatching +OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy skos:exactMatch MONDO:0011002 semapv:UnspecifiedMatching +OMIM:601153 FHIT skos:exactMatch hgnc.symbol:3701 semapv:UnspecifiedMatching +OMIM:601153 FHIT skos:exactMatch hgnc.symbol:FHIT semapv:UnspecifiedMatching +OMIM:601153 FHIT skos:exactMatch ncbigene:2272 semapv:UnspecifiedMatching +OMIM:601154 cardiomyopathy, dilated, 1e skos:exactMatch MONDO:0011003 semapv:UnspecifiedMatching +OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:17102 semapv:UnspecifiedMatching +OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:ARHGAP45 semapv:UnspecifiedMatching +OMIM:601155 HMHA1 skos:exactMatch ncbigene:23526 semapv:UnspecifiedMatching +OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:10610 semapv:UnspecifiedMatching +OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:CCL11 semapv:UnspecifiedMatching +OMIM:601156 CCL11 skos:exactMatch ncbigene:6356 semapv:UnspecifiedMatching +OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:2763 semapv:UnspecifiedMatching +OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:DEFA4 semapv:UnspecifiedMatching +OMIM:601157 DEFA4 skos:exactMatch ncbigene:1669 semapv:UnspecifiedMatching +OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:6881 semapv:UnspecifiedMatching +OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:MAPK8 semapv:UnspecifiedMatching +OMIM:601158 MAPK8 skos:exactMatch ncbigene:5599 semapv:UnspecifiedMatching +OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:1602 semapv:UnspecifiedMatching +OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:CCR1 semapv:UnspecifiedMatching +OMIM:601159 CCR1 skos:exactMatch ncbigene:1230 semapv:UnspecifiedMatching +OMIM:601160 lissencephaly iia 3 and bone dysplasia skos:exactMatch MONDO:0011004 semapv:UnspecifiedMatching +OMIM:601161 trisomy 18-like syndrome skos:exactMatch MONDO:0011005 semapv:UnspecifiedMatching +OMIM:601162 spastic paraplegia 9a, autosomal dominant skos:exactMatch MONDO:0011006 semapv:UnspecifiedMatching +OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull skos:exactMatch MONDO:0011007 semapv:UnspecifiedMatching +OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease skos:exactMatch MONDO:0011008 semapv:UnspecifiedMatching +OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:4469 semapv:UnspecifiedMatching +OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:GPR15 semapv:UnspecifiedMatching +OMIM:601166 GPR15 skos:exactMatch ncbigene:2838 semapv:UnspecifiedMatching +OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:8539 semapv:UnspecifiedMatching +OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:P2RY1 semapv:UnspecifiedMatching +OMIM:601167 P2RY1 skos:exactMatch ncbigene:5028 semapv:UnspecifiedMatching +OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:3015 semapv:UnspecifiedMatching +OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:DPYSL3 semapv:UnspecifiedMatching +OMIM:601168 DPYSL3 skos:exactMatch ncbigene:1809 semapv:UnspecifiedMatching +OMIM:601170 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch MONDO:0011009 semapv:UnspecifiedMatching +OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:2466 semapv:UnspecifiedMatching +OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:CSPG4 semapv:UnspecifiedMatching +OMIM:601172 CSPG4 skos:exactMatch ncbigene:1464 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch UMLS:C1412537 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:693 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:ARL2 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch ncbigene:402 semapv:UnspecifiedMatching +OMIM:601176 GCLM skos:exactMatch hgnc.symbol:4312 semapv:UnspecifiedMatching +OMIM:601176 GCLM skos:exactMatch hgnc.symbol:GCLM semapv:UnspecifiedMatching +OMIM:601176 GCLM skos:exactMatch ncbigene:2730 semapv:UnspecifiedMatching +OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:655 semapv:UnspecifiedMatching +OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:ARF4 semapv:UnspecifiedMatching +OMIM:601177 ARF4 skos:exactMatch ncbigene:378 semapv:UnspecifiedMatching +OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:6743 semapv:UnspecifiedMatching +OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:CAPRIN1 semapv:UnspecifiedMatching +OMIM:601178 CAPRIN1 skos:exactMatch ncbigene:4076 semapv:UnspecifiedMatching +OMIM:601179 RAN skos:exactMatch hgnc.symbol:9846 semapv:UnspecifiedMatching +OMIM:601179 RAN skos:exactMatch hgnc.symbol:RAN semapv:UnspecifiedMatching +OMIM:601179 RAN skos:exactMatch ncbigene:5901 semapv:UnspecifiedMatching +OMIM:601180 RANBP1 skos:exactMatch hgnc.symbol:9847 semapv:UnspecifiedMatching +OMIM:601180 RANBP1 skos:exactMatch hgnc.symbol:RANBP1 semapv:UnspecifiedMatching +OMIM:601180 RANBP1 skos:exactMatch ncbigene:5902 semapv:UnspecifiedMatching +OMIM:601181 RANBP2 skos:exactMatch hgnc.symbol:9848 semapv:UnspecifiedMatching +OMIM:601181 RANBP2 skos:exactMatch hgnc.symbol:RANBP2 semapv:UnspecifiedMatching +OMIM:601181 RANBP2 skos:exactMatch ncbigene:5903 semapv:UnspecifiedMatching +OMIM:601182 ORC2 skos:exactMatch hgnc.symbol:8488 semapv:UnspecifiedMatching +OMIM:601182 ORC2 skos:exactMatch hgnc.symbol:ORC2 semapv:UnspecifiedMatching +OMIM:601182 ORC2 skos:exactMatch ncbigene:4999 semapv:UnspecifiedMatching +OMIM:601183 CRIP2 skos:exactMatch hgnc.symbol:2361 semapv:UnspecifiedMatching +OMIM:601183 CRIP2 skos:exactMatch hgnc.symbol:CRIP2 semapv:UnspecifiedMatching +OMIM:601183 CRIP2 skos:exactMatch ncbigene:1397 semapv:UnspecifiedMatching +OMIM:601184 DNAJC3 skos:exactMatch hgnc.symbol:9439 semapv:UnspecifiedMatching +OMIM:601184 DNAJC3 skos:exactMatch hgnc.symbol:DNAJC3 semapv:UnspecifiedMatching +OMIM:601184 DNAJC3 skos:exactMatch ncbigene:5611 semapv:UnspecifiedMatching +OMIM:601185 STC1 skos:exactMatch hgnc.symbol:11373 semapv:UnspecifiedMatching +OMIM:601185 STC1 skos:exactMatch hgnc.symbol:STC1 semapv:UnspecifiedMatching +OMIM:601185 STC1 skos:exactMatch ncbigene:6781 semapv:UnspecifiedMatching +OMIM:601186 microphthalmia, syndromic 9 skos:exactMatch MONDO:0011010 semapv:UnspecifiedMatching +OMIM:601187 gurrieri syndrome skos:exactMatch MONDO:0011011 semapv:UnspecifiedMatching +OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:9199 semapv:UnspecifiedMatching +OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:POLR2L semapv:UnspecifiedMatching +OMIM:601189 POLR2L skos:exactMatch ncbigene:5441 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch UMLS:C1418430 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch UMLS:C1864900 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch UMLS:C3552227 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:8790 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:PDE6H semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch ncbigene:5149 semapv:UnspecifiedMatching +OMIM:601191 ERH skos:exactMatch UMLS:C1414443 semapv:UnspecifiedMatching +OMIM:601191 ERH skos:exactMatch hgnc.symbol:3447 semapv:UnspecifiedMatching +OMIM:601191 ERH skos:exactMatch hgnc.symbol:ERH semapv:UnspecifiedMatching +OMIM:601191 ERH skos:exactMatch ncbigene:2079 semapv:UnspecifiedMatching +OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:9038 semapv:UnspecifiedMatching +OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:PLA2G5 semapv:UnspecifiedMatching +OMIM:601192 PLA2G5 skos:exactMatch ncbigene:5322 semapv:UnspecifiedMatching +OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:304 semapv:UnspecifiedMatching +OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:CRISP1 semapv:UnspecifiedMatching +OMIM:601193 CRISP1 skos:exactMatch ncbigene:167 semapv:UnspecifiedMatching +OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:11847 semapv:UnspecifiedMatching +OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:TLR1 semapv:UnspecifiedMatching +OMIM:601194 TLR1 skos:exactMatch ncbigene:7096 semapv:UnspecifiedMatching +OMIM:601195 iron overload 1n africa skos:exactMatch MONDO:0011012 semapv:UnspecifiedMatching +OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:9347 semapv:UnspecifiedMatching +OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:PRDM2 semapv:UnspecifiedMatching +OMIM:601196 PRDM2 skos:exactMatch ncbigene:7799 semapv:UnspecifiedMatching +OMIM:601197 TUB skos:exactMatch hgnc.symbol:12406 semapv:UnspecifiedMatching +OMIM:601197 TUB skos:exactMatch hgnc.symbol:TUB semapv:UnspecifiedMatching +OMIM:601197 TUB skos:exactMatch ncbigene:7275 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch MONDO:0011013 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:428 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C3715128 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C4048195 semapv:UnspecifiedMatching +OMIM:601199 CASR skos:exactMatch hgnc.symbol:1514 semapv:UnspecifiedMatching +OMIM:601199 CASR skos:exactMatch hgnc.symbol:CASR semapv:UnspecifiedMatching +OMIM:601199 CASR skos:exactMatch ncbigene:846 semapv:UnspecifiedMatching +OMIM:601200 pleuropulmonary blastoma skos:exactMatch MONDO:0011014 semapv:UnspecifiedMatching +OMIM:601201 methylation modifier for class 1 hla skos:exactMatch ncbigene:7795 semapv:UnspecifiedMatching +OMIM:601202 cataract 24 skos:exactMatch MONDO:0011015 semapv:UnspecifiedMatching +OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:5998 semapv:UnspecifiedMatching +OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:IL1RL1 semapv:UnspecifiedMatching +OMIM:601203 IL1RL1 skos:exactMatch ncbigene:9173 semapv:UnspecifiedMatching +OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:9601 semapv:UnspecifiedMatching +OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:PTGFRN semapv:UnspecifiedMatching +OMIM:601204 PTGFRN skos:exactMatch ncbigene:5738 semapv:UnspecifiedMatching +OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:10887 semapv:UnspecifiedMatching +OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:SIX1 semapv:UnspecifiedMatching +OMIM:601205 SIX1 skos:exactMatch ncbigene:6495 semapv:UnspecifiedMatching +OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:9211 semapv:UnspecifiedMatching +OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:POU2AF1 semapv:UnspecifiedMatching +OMIM:601206 POU2AF1 skos:exactMatch ncbigene:5450 semapv:UnspecifiedMatching +OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:2856 semapv:UnspecifiedMatching +OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:DGKQ semapv:UnspecifiedMatching +OMIM:601207 DGKQ skos:exactMatch ncbigene:1609 semapv:UnspecifiedMatching +OMIM:601208 iia 1 diabetes mellitus 11 skos:exactMatch MONDO:0011016 semapv:UnspecifiedMatching +OMIM:601208 iia 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching +OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:8647 semapv:UnspecifiedMatching +OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:PCBP1 semapv:UnspecifiedMatching +OMIM:601209 PCBP1 skos:exactMatch ncbigene:5093 semapv:UnspecifiedMatching +OMIM:601210 PCBP2 skos:exactMatch hgnc.symbol:8648 semapv:UnspecifiedMatching +OMIM:601210 PCBP2 skos:exactMatch hgnc.symbol:PCBP2 semapv:UnspecifiedMatching +OMIM:601210 PCBP2 skos:exactMatch ncbigene:5094 semapv:UnspecifiedMatching +OMIM:601211 ADGRE5 skos:exactMatch hgnc.symbol:1711 semapv:UnspecifiedMatching +OMIM:601211 ADGRE5 skos:exactMatch hgnc.symbol:ADGRE5 semapv:UnspecifiedMatching +OMIM:601211 ADGRE5 skos:exactMatch ncbigene:976 semapv:UnspecifiedMatching +OMIM:601212 PTK2B skos:exactMatch hgnc.symbol:9612 semapv:UnspecifiedMatching +OMIM:601212 PTK2B skos:exactMatch hgnc.symbol:PTK2B semapv:UnspecifiedMatching +OMIM:601212 PTK2B skos:exactMatch ncbigene:2185 semapv:UnspecifiedMatching +OMIM:601213 RNS4I skos:exactMatch hgnc.symbol:69 semapv:UnspecifiedMatching +OMIM:601213 RNS4I skos:exactMatch hgnc.symbol:ABCE1 semapv:UnspecifiedMatching +OMIM:601213 RNS4I skos:exactMatch ncbigene:6059 semapv:UnspecifiedMatching +OMIM:601214 naxos disease skos:exactMatch MONDO:0011017 semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch UMLS:C1332120 semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch hgnc.symbol:882 semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch hgnc.symbol:ATR semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch ncbigene:545 semapv:UnspecifiedMatching +OMIM:601216 dental anomalies and short stature skos:exactMatch MONDO:0011018 semapv:UnspecifiedMatching +OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism skos:exactMatch MONDO:0011019 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch UMLS:C1412216 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:226 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:ADARB1 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch ncbigene:104 semapv:UnspecifiedMatching +OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome skos:exactMatch MONDO:0011020 semapv:UnspecifiedMatching +OMIM:601223 neuronal intestinal dysplasia, iia B skos:exactMatch MONDO:0011021 semapv:UnspecifiedMatching +OMIM:601224 potocki-shaffer syndrome skos:exactMatch MONDO:0011022 semapv:UnspecifiedMatching +OMIM:601224 potocki-shaffer syndrome skos:exactMatch Orphanet:52022 semapv:UnspecifiedMatching +OMIM:601224 potocki-shaffer syndrome skos:exactMatch UMLS:C1832588 semapv:UnspecifiedMatching +OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:3085 semapv:UnspecifiedMatching +OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:DVL1P1 semapv:UnspecifiedMatching +OMIM:601225 DVL1L1 skos:exactMatch ncbigene:8215 semapv:UnspecifiedMatching +OMIM:601228 polyposis syndrome, hereditary mixed, 1 skos:exactMatch MONDO:0042486 semapv:UnspecifiedMatching +OMIM:601230 dermatitis herpetiformis, familial skos:exactMatch MONDO:0011024 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch UMLS:C1414805 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch UMLS:C4225259 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch hgnc.symbol:3942 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch hgnc.symbol:MTOR semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch ncbigene:2475 semapv:UnspecifiedMatching +OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:8978 semapv:UnspecifiedMatching +OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:PIK3CG semapv:UnspecifiedMatching +OMIM:601232 PIK3CG skos:exactMatch ncbigene:5294 semapv:UnspecifiedMatching +OMIM:601233 INHBC skos:exactMatch hgnc.symbol:6068 semapv:UnspecifiedMatching +OMIM:601233 INHBC skos:exactMatch hgnc.symbol:INHBC semapv:UnspecifiedMatching +OMIM:601233 INHBC skos:exactMatch ncbigene:3626 semapv:UnspecifiedMatching +OMIM:601234 NACA skos:exactMatch hgnc.symbol:7629 semapv:UnspecifiedMatching +OMIM:601234 NACA skos:exactMatch hgnc.symbol:NACA semapv:UnspecifiedMatching +OMIM:601234 NACA skos:exactMatch ncbigene:4666 semapv:UnspecifiedMatching +OMIM:601235 DDX10 skos:exactMatch UMLS:C1413952 semapv:UnspecifiedMatching +OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:2735 semapv:UnspecifiedMatching +OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:DDX10 semapv:UnspecifiedMatching +OMIM:601235 DDX10 skos:exactMatch ncbigene:1662 semapv:UnspecifiedMatching +OMIM:601236 DAB2 skos:exactMatch hgnc.symbol:2662 semapv:UnspecifiedMatching +OMIM:601236 DAB2 skos:exactMatch hgnc.symbol:DAB2 semapv:UnspecifiedMatching +OMIM:601236 DAB2 skos:exactMatch ncbigene:1601 semapv:UnspecifiedMatching +OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:12968 semapv:UnspecifiedMatching +OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:RNF112 semapv:UnspecifiedMatching +OMIM:601237 RNF112 skos:exactMatch ncbigene:7732 semapv:UnspecifiedMatching +OMIM:601238 cerebellar ataxia, cayman iia skos:exactMatch MONDO:0011025 semapv:UnspecifiedMatching +OMIM:601239 DTNA skos:exactMatch hgnc.symbol:3057 semapv:UnspecifiedMatching +OMIM:601239 DTNA skos:exactMatch hgnc.symbol:DTNA semapv:UnspecifiedMatching +OMIM:601239 DTNA skos:exactMatch ncbigene:1837 semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch UMLS:C1414963 semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch hgnc.symbol:4136 semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch hgnc.symbol:GAMT semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch ncbigene:2593 semapv:UnspecifiedMatching +OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:4852 semapv:UnspecifiedMatching +OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:HDAC1 semapv:UnspecifiedMatching +OMIM:601241 HDAC1 skos:exactMatch ncbigene:3065 semapv:UnspecifiedMatching +OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:6838 semapv:UnspecifiedMatching +OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:MAP1LC3A semapv:UnspecifiedMatching +OMIM:601242 MAP1LC3A skos:exactMatch ncbigene:84557 semapv:UnspecifiedMatching +OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:11992 semapv:UnspecifiedMatching +OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:TOP3A semapv:UnspecifiedMatching +OMIM:601243 TOP3A skos:exactMatch ncbigene:7156 semapv:UnspecifiedMatching +OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:4684 semapv:UnspecifiedMatching +OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:GUCY1A2 semapv:UnspecifiedMatching +OMIM:601244 GUCY1A2 skos:exactMatch ncbigene:2977 semapv:UnspecifiedMatching +OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:1911 semapv:UnspecifiedMatching +OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:CHAF1B semapv:UnspecifiedMatching +OMIM:601245 CHAF1B skos:exactMatch ncbigene:8208 semapv:UnspecifiedMatching +OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:1910 semapv:UnspecifiedMatching +OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:CHAF1A semapv:UnspecifiedMatching +OMIM:601246 CHAF1A skos:exactMatch ncbigene:10036 semapv:UnspecifiedMatching +OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:11188 semapv:UnspecifiedMatching +OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:SOS2 semapv:UnspecifiedMatching +OMIM:601247 SOS2 skos:exactMatch ncbigene:6655 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch UMLS:C1332412 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:1052 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:BIN1 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch ncbigene:274 semapv:UnspecifiedMatching +OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:9466 semapv:UnspecifiedMatching +OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:PRPSAP1 semapv:UnspecifiedMatching +OMIM:601249 PRPSAP1 skos:exactMatch ncbigene:5635 semapv:UnspecifiedMatching +OMIM:601250 MSRA skos:exactMatch hgnc.symbol:7377 semapv:UnspecifiedMatching +OMIM:601250 MSRA skos:exactMatch hgnc.symbol:MSRA semapv:UnspecifiedMatching +OMIM:601250 MSRA skos:exactMatch ncbigene:4482 semapv:UnspecifiedMatching +OMIM:601251 skos:exactMatch MONDO:0027416 semapv:UnspecifiedMatching +OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:3623 semapv:UnspecifiedMatching +OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:FCN1 semapv:UnspecifiedMatching +OMIM:601252 FCN1 skos:exactMatch ncbigene:2219 semapv:UnspecifiedMatching +OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:1529 semapv:UnspecifiedMatching +OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:CAV3 semapv:UnspecifiedMatching +OMIM:601253 CAV3 skos:exactMatch ncbigene:859 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch UMLS:C1334475 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:6846 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:MAP2K6 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch ncbigene:5608 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C1412698 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C1835896 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C3280168 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:888 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:KIF1A semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch ncbigene:547 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch UMLS:C1333209 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:2734 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:DDX1 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch ncbigene:1653 semapv:UnspecifiedMatching +OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:2634 semapv:UnspecifiedMatching +OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:CYP2J2 semapv:UnspecifiedMatching +OMIM:601258 CYP2J2 skos:exactMatch ncbigene:1573 semapv:UnspecifiedMatching +OMIM:601259 AMBN skos:exactMatch hgnc.symbol:452 semapv:UnspecifiedMatching +OMIM:601259 AMBN skos:exactMatch hgnc.symbol:AMBN semapv:UnspecifiedMatching +OMIM:601259 AMBN skos:exactMatch ncbigene:258 semapv:UnspecifiedMatching +OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:13101 semapv:UnspecifiedMatching +OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:ZKSCAN1 semapv:UnspecifiedMatching +OMIM:601260 ZKSCAN1 skos:exactMatch ncbigene:7586 semapv:UnspecifiedMatching +OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:13104 semapv:UnspecifiedMatching +OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:ZSCAN21 semapv:UnspecifiedMatching +OMIM:601261 ZSCAN21 skos:exactMatch ncbigene:7589 semapv:UnspecifiedMatching +OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:12947 semapv:UnspecifiedMatching +OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:ZNF16 semapv:UnspecifiedMatching +OMIM:601262 ZNF16 skos:exactMatch ncbigene:7564 semapv:UnspecifiedMatching +OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:6842 semapv:UnspecifiedMatching +OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:MAP2K2 semapv:UnspecifiedMatching +OMIM:601263 MAP2K2 skos:exactMatch ncbigene:5605 semapv:UnspecifiedMatching +OMIM:601265 NODAL skos:exactMatch hgnc.symbol:7865 semapv:UnspecifiedMatching +OMIM:601265 NODAL skos:exactMatch hgnc.symbol:NODAL semapv:UnspecifiedMatching +OMIM:601265 NODAL skos:exactMatch ncbigene:4838 semapv:UnspecifiedMatching +OMIM:601266 DUT skos:exactMatch hgnc.symbol:3078 semapv:UnspecifiedMatching +OMIM:601266 DUT skos:exactMatch hgnc.symbol:DUT semapv:UnspecifiedMatching +OMIM:601266 DUT skos:exactMatch ncbigene:1854 semapv:UnspecifiedMatching +OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:1603 semapv:UnspecifiedMatching +OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:CCR2 semapv:UnspecifiedMatching +OMIM:601267 CCR2 skos:exactMatch ncbigene:729230 semapv:UnspecifiedMatching +OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:1604 semapv:UnspecifiedMatching +OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:CCR3 semapv:UnspecifiedMatching +OMIM:601268 CCR3 skos:exactMatch ncbigene:1232 semapv:UnspecifiedMatching +OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:1243 semapv:UnspecifiedMatching +OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:C1QBP semapv:UnspecifiedMatching +OMIM:601269 C1QBP skos:exactMatch ncbigene:708 semapv:UnspecifiedMatching +OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:2646 semapv:UnspecifiedMatching +OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:CYP4F3 semapv:UnspecifiedMatching +OMIM:601270 CYP4F3 skos:exactMatch ncbigene:4051 semapv:UnspecifiedMatching +OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:4683 semapv:UnspecifiedMatching +OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:GUCA2B semapv:UnspecifiedMatching +OMIM:601271 GUCA2B skos:exactMatch ncbigene:2981 semapv:UnspecifiedMatching +OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:11172 semapv:UnspecifiedMatching +OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:SNX1 semapv:UnspecifiedMatching +OMIM:601272 SNX1 skos:exactMatch ncbigene:6642 semapv:UnspecifiedMatching +OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:2093 semapv:UnspecifiedMatching +OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:CLTCL1 semapv:UnspecifiedMatching +OMIM:601273 CLTCL1 skos:exactMatch ncbigene:8218 semapv:UnspecifiedMatching +OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:18429 semapv:UnspecifiedMatching +OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:PTGR1 semapv:UnspecifiedMatching +OMIM:601274 PTGR1 skos:exactMatch ncbigene:22949 semapv:UnspecifiedMatching +OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:4460 semapv:UnspecifiedMatching +OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:GPM6A semapv:UnspecifiedMatching +OMIM:601275 GPM6A skos:exactMatch ncbigene:2823 semapv:UnspecifiedMatching +OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:12966 semapv:UnspecifiedMatching +OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:ZNF177 semapv:UnspecifiedMatching +OMIM:601276 ZNF177 skos:exactMatch ncbigene:7730 semapv:UnspecifiedMatching +OMIM:601277 ichthyosis, congenital, autosomal recessive 4a skos:exactMatch MONDO:0011026 semapv:UnspecifiedMatching +OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:3954 semapv:UnspecifiedMatching +OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:FRG1 semapv:UnspecifiedMatching +OMIM:601278 FRG1 skos:exactMatch ncbigene:2483 semapv:UnspecifiedMatching +OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:2846 semapv:UnspecifiedMatching +OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:DGCR6 semapv:UnspecifiedMatching +OMIM:601279 DGCR6 skos:exactMatch ncbigene:8214 semapv:UnspecifiedMatching +OMIM:601280 MAB21L1 skos:exactMatch hgnc.symbol:6757 semapv:UnspecifiedMatching +OMIM:601280 MAB21L1 skos:exactMatch hgnc.symbol:MAB21L1 semapv:UnspecifiedMatching +OMIM:601280 MAB21L1 skos:exactMatch ncbigene:4081 semapv:UnspecifiedMatching +OMIM:601281 SEMA3B skos:exactMatch hgnc.symbol:10724 semapv:UnspecifiedMatching +OMIM:601281 SEMA3B skos:exactMatch hgnc.symbol:SEMA3B semapv:UnspecifiedMatching +OMIM:601281 SEMA3B skos:exactMatch ncbigene:7869 semapv:UnspecifiedMatching +OMIM:601282 PLEC skos:exactMatch hgnc.symbol:9069 semapv:UnspecifiedMatching +OMIM:601282 PLEC skos:exactMatch hgnc.symbol:PLEC semapv:UnspecifiedMatching +OMIM:601282 PLEC skos:exactMatch ncbigene:5339 semapv:UnspecifiedMatching +OMIM:601283 iia 2 diabetes mellitus 1 skos:exactMatch MONDO:0011027 semapv:UnspecifiedMatching +OMIM:601283 iia 2 diabetes mellitus 1 skos:exactMatch UMLS:C1832544 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1366767 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1832529 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1838163 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch hgnc.symbol:175 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch hgnc.symbol:ACVRL1 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch ncbigene:94 semapv:UnspecifiedMatching +OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:10845 semapv:UnspecifiedMatching +OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:SEM1 semapv:UnspecifiedMatching +OMIM:601285 SEM1 skos:exactMatch ncbigene:7979 semapv:UnspecifiedMatching +OMIM:601287 muscular dystrophy, limb-girdle, autosomal recessive 6 skos:exactMatch MONDO:0011028 semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch UMLS:C1421564 semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:12855 semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:YWHAZ semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch ncbigene:7534 semapv:UnspecifiedMatching +OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:12849 semapv:UnspecifiedMatching +OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:YWHAB semapv:UnspecifiedMatching +OMIM:601289 YWHAB skos:exactMatch ncbigene:7529 semapv:UnspecifiedMatching +OMIM:601290 SFN skos:exactMatch hgnc.symbol:10773 semapv:UnspecifiedMatching +OMIM:601290 SFN skos:exactMatch hgnc.symbol:SFN semapv:UnspecifiedMatching +OMIM:601290 SFN skos:exactMatch ncbigene:2810 semapv:UnspecifiedMatching +OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:12555 semapv:UnspecifiedMatching +OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:UGT8 semapv:UnspecifiedMatching +OMIM:601291 UGT8 skos:exactMatch ncbigene:7368 semapv:UnspecifiedMatching +OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:11454 semapv:UnspecifiedMatching +OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:SULT1A2 semapv:UnspecifiedMatching +OMIM:601292 SULT1A2 skos:exactMatch ncbigene:6799 semapv:UnspecifiedMatching +OMIM:601293 RHEB skos:exactMatch hgnc.symbol:10011 semapv:UnspecifiedMatching +OMIM:601293 RHEB skos:exactMatch hgnc.symbol:RHEB semapv:UnspecifiedMatching +OMIM:601293 RHEB skos:exactMatch ncbigene:6009 semapv:UnspecifiedMatching +OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:10906 semapv:UnspecifiedMatching +OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:SLC10A2 semapv:UnspecifiedMatching +OMIM:601295 SLC10A2 skos:exactMatch ncbigene:6555 semapv:UnspecifiedMatching +OMIM:601296 MUSK skos:exactMatch hgnc.symbol:7525 semapv:UnspecifiedMatching +OMIM:601296 MUSK skos:exactMatch hgnc.symbol:MUSK semapv:UnspecifiedMatching +OMIM:601296 MUSK skos:exactMatch ncbigene:4593 semapv:UnspecifiedMatching +OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:11196 semapv:UnspecifiedMatching +OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:SOX15 semapv:UnspecifiedMatching +OMIM:601297 SOX15 skos:exactMatch ncbigene:6665 semapv:UnspecifiedMatching +OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:1076 semapv:UnspecifiedMatching +OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:BMPR1A semapv:UnspecifiedMatching +OMIM:601299 BMPR1A skos:exactMatch ncbigene:657 semapv:UnspecifiedMatching +OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:172 semapv:UnspecifiedMatching +OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:ACVR1B semapv:UnspecifiedMatching +OMIM:601300 ACVR1B skos:exactMatch ncbigene:91 semapv:UnspecifiedMatching +OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:9260 semapv:UnspecifiedMatching +OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:PPIL1 semapv:UnspecifiedMatching +OMIM:601301 PPIL1 skos:exactMatch ncbigene:51645 semapv:UnspecifiedMatching +OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:9317 semapv:UnspecifiedMatching +OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:PPP3R1 semapv:UnspecifiedMatching +OMIM:601302 PPP3R1 skos:exactMatch ncbigene:5534 semapv:UnspecifiedMatching +OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:1989 semapv:UnspecifiedMatching +OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:TBCB semapv:UnspecifiedMatching +OMIM:601303 CKAP1 skos:exactMatch ncbigene:1155 semapv:UnspecifiedMatching +OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:7819 semapv:UnspecifiedMatching +OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:SNU13 semapv:UnspecifiedMatching +OMIM:601304 SNU13 skos:exactMatch ncbigene:4809 semapv:UnspecifiedMatching +OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:5300 semapv:UnspecifiedMatching +OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:HTR5A semapv:UnspecifiedMatching +OMIM:601305 HTR5A skos:exactMatch ncbigene:3361 semapv:UnspecifiedMatching +OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:4844 semapv:UnspecifiedMatching +OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:HCLS1 semapv:UnspecifiedMatching +OMIM:601306 HCLS1 skos:exactMatch ncbigene:3059 semapv:UnspecifiedMatching +OMIM:601308 myeloid tumor suppressor skos:exactMatch MONDO:0011029 semapv:UnspecifiedMatching +OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:9585 semapv:UnspecifiedMatching +OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:PTCH1 semapv:UnspecifiedMatching +OMIM:601309 PTCH1 skos:exactMatch ncbigene:5727 semapv:UnspecifiedMatching +OMIM:601310 CYP4A11 skos:exactMatch hgnc.symbol:2642 semapv:UnspecifiedMatching +OMIM:601310 CYP4A11 skos:exactMatch hgnc.symbol:CYP4A11 semapv:UnspecifiedMatching +OMIM:601310 CYP4A11 skos:exactMatch ncbigene:1579 semapv:UnspecifiedMatching +OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:11178 semapv:UnspecifiedMatching +OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:SOAT2 semapv:UnspecifiedMatching +OMIM:601311 SOAT2 skos:exactMatch ncbigene:8435 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch UMLS:C1418599 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch UMLS:C4016726 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:9008 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:PKD1 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch ncbigene:5310 semapv:UnspecifiedMatching +OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:4912 semapv:UnspecifiedMatching +OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:HINT1 semapv:UnspecifiedMatching +OMIM:601314 HINT1 skos:exactMatch ncbigene:3094 semapv:UnspecifiedMatching +OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:exactMatch MONDO:0011030 semapv:UnspecifiedMatching +OMIM:601316 deafness, autosomal dominant 10 skos:exactMatch MONDO:0011031 semapv:UnspecifiedMatching +OMIM:601317 deafness, autosomal dominant 11 skos:exactMatch MONDO:0011032 semapv:UnspecifiedMatching +OMIM:601318 iia 1 diabetes mellitus 13 skos:exactMatch MONDO:0011033 semapv:UnspecifiedMatching +OMIM:601318 iia 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching +OMIM:601319 odontomicronychial dysplasia skos:exactMatch MONDO:0011034 semapv:UnspecifiedMatching +OMIM:601321 neurofibromatosis-noonan syndrome skos:exactMatch MONDO:0011035 semapv:UnspecifiedMatching +OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations skos:exactMatch MONDO:0011036 semapv:UnspecifiedMatching +OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:8043 semapv:UnspecifiedMatching +OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:NUCB1 semapv:UnspecifiedMatching +OMIM:601323 NUCB1 skos:exactMatch ncbigene:4924 semapv:UnspecifiedMatching +OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:5036 semapv:UnspecifiedMatching +OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:HNRNPD semapv:UnspecifiedMatching +OMIM:601324 HNRNPD skos:exactMatch ncbigene:3184 semapv:UnspecifiedMatching +OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:2173 semapv:UnspecifiedMatching +OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:CNTN3 semapv:UnspecifiedMatching +OMIM:601325 CNTN3 skos:exactMatch ncbigene:5067 semapv:UnspecifiedMatching +OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:8514 semapv:UnspecifiedMatching +OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:CLDN11 semapv:UnspecifiedMatching +OMIM:601326 CLDN11 skos:exactMatch ncbigene:5010 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch UMLS:C1419860 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch UMLS:C3809312 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:10589 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:SCN2B semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch ncbigene:6327 semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch UMLS:C1419870 semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:10601 semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:SCNN1D semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch ncbigene:6339 semapv:UnspecifiedMatching +OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:6613 semapv:UnspecifiedMatching +OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:LIMK1 semapv:UnspecifiedMatching +OMIM:601329 LIMK1 skos:exactMatch ncbigene:3984 semapv:UnspecifiedMatching +OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:4688 semapv:UnspecifiedMatching +OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:GUCY2C semapv:UnspecifiedMatching +OMIM:601330 GUCY2C skos:exactMatch ncbigene:2984 semapv:UnspecifiedMatching +OMIM:601331 renal dysplasia, cystic, susceptibility to skos:exactMatch MONDO:0011037 semapv:UnspecifiedMatching +OMIM:601332 MKX skos:exactMatch hgnc.symbol:23729 semapv:UnspecifiedMatching +OMIM:601332 MKX skos:exactMatch hgnc.symbol:MKX semapv:UnspecifiedMatching +OMIM:601332 MKX skos:exactMatch ncbigene:283078 semapv:UnspecifiedMatching +OMIM:601333 SUPT6H skos:exactMatch UMLS:C0812269 semapv:UnspecifiedMatching +OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:11470 semapv:UnspecifiedMatching +OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:SUPT6H semapv:UnspecifiedMatching +OMIM:601333 SUPT6H skos:exactMatch ncbigene:6830 semapv:UnspecifiedMatching +OMIM:601334 KLC3 skos:exactMatch hgnc.symbol:20717 semapv:UnspecifiedMatching +OMIM:601334 KLC3 skos:exactMatch hgnc.symbol:KLC3 semapv:UnspecifiedMatching +OMIM:601334 KLC3 skos:exactMatch ncbigene:147700 semapv:UnspecifiedMatching +OMIM:601335 MAP2K4 skos:exactMatch hgnc.symbol:6844 semapv:UnspecifiedMatching +OMIM:601335 MAP2K4 skos:exactMatch hgnc.symbol:MAP2K4 semapv:UnspecifiedMatching +OMIM:601335 MAP2K4 skos:exactMatch ncbigene:6416 semapv:UnspecifiedMatching +OMIM:601336 MOGS skos:exactMatch hgnc.symbol:24862 semapv:UnspecifiedMatching +OMIM:601336 MOGS skos:exactMatch hgnc.symbol:MOGS semapv:UnspecifiedMatching +OMIM:601336 MOGS skos:exactMatch ncbigene:7841 semapv:UnspecifiedMatching +OMIM:601337 RFX3 skos:exactMatch UMLS:C1419361 semapv:UnspecifiedMatching +OMIM:601337 RFX3 skos:exactMatch hgnc.symbol:9984 semapv:UnspecifiedMatching +OMIM:601337 RFX3 skos:exactMatch hgnc.symbol:RFX3 semapv:UnspecifiedMatching +OMIM:601337 RFX3 skos:exactMatch ncbigene:5991 semapv:UnspecifiedMatching +OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 semapv:UnspecifiedMatching +OMIM:601340 MIA skos:exactMatch hgnc.symbol:7076 semapv:UnspecifiedMatching +OMIM:601340 MIA skos:exactMatch hgnc.symbol:MIA semapv:UnspecifiedMatching +OMIM:601340 MIA skos:exactMatch ncbigene:8190 semapv:UnspecifiedMatching +OMIM:601341 atrophia maculosa varioliformis cutis, familial skos:exactMatch MONDO:0011039 semapv:UnspecifiedMatching +OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:2431 semapv:UnspecifiedMatching +OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:CSE1L semapv:UnspecifiedMatching +OMIM:601342 CSE1L skos:exactMatch ncbigene:1434 semapv:UnspecifiedMatching +OMIM:601344 spinal dysplasia, anhalt iia skos:exactMatch MONDO:0011040 semapv:UnspecifiedMatching +OMIM:601345 ectodermal dysplasia with natal teeth, turnpenny iia skos:exactMatch MONDO:0011041 semapv:UnspecifiedMatching +OMIM:601346 martinez-frias syndrome skos:exactMatch MONDO:0011042 semapv:UnspecifiedMatching +OMIM:601347 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch MONDO:0011043 semapv:UnspecifiedMatching +OMIM:601348 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch MONDO:0011044 semapv:UnspecifiedMatching +OMIM:601349 microphthalmia, syndromic 8 skos:exactMatch MONDO:0011045 semapv:UnspecifiedMatching +OMIM:601350 short stature syndrome, brussels iia skos:exactMatch MONDO:0011046 semapv:UnspecifiedMatching +OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction skos:exactMatch MONDO:0011047 semapv:UnspecifiedMatching +OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face skos:exactMatch MONDO:0011048 semapv:UnspecifiedMatching +OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development skos:exactMatch MONDO:0011049 semapv:UnspecifiedMatching +OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs skos:exactMatch MONDO:0011050 semapv:UnspecifiedMatching +OMIM:601356 lethal short-limb skeletal dysplasia, al gazali iia skos:exactMatch MONDO:0011051 semapv:UnspecifiedMatching +OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly skos:exactMatch MONDO:0011052 semapv:UnspecifiedMatching +OMIM:601358 nicolaides-baraitser syndrome skos:exactMatch MONDO:0011053 semapv:UnspecifiedMatching +OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch MONDO:0011054 semapv:UnspecifiedMatching +OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch Orphanet:1027 semapv:UnspecifiedMatching +OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching +OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:4215 semapv:UnspecifiedMatching +OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:GDF10 semapv:UnspecifiedMatching +OMIM:601361 GDF10 skos:exactMatch ncbigene:2662 semapv:UnspecifiedMatching +OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 skos:exactMatch MONDO:0011055 semapv:UnspecifiedMatching +OMIM:601363 wilms tumor 4 skos:exactMatch MONDO:0011056 semapv:UnspecifiedMatching +OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:1753 semapv:UnspecifiedMatching +OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:CDH13 semapv:UnspecifiedMatching +OMIM:601364 CDH13 skos:exactMatch ncbigene:1012 semapv:UnspecifiedMatching +OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:3084 semapv:UnspecifiedMatching +OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:DVL1 semapv:UnspecifiedMatching +OMIM:601365 DVL1 skos:exactMatch ncbigene:1855 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch UMLS:C1334468 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:6768 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:SMAD2 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch ncbigene:4087 semapv:UnspecifiedMatching +OMIM:601367 stroke, ischemic skos:exactMatch MONDO:0020671 semapv:UnspecifiedMatching +OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:3087 semapv:UnspecifiedMatching +OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:DVL3 semapv:UnspecifiedMatching +OMIM:601368 DVL3 skos:exactMatch ncbigene:1857 semapv:UnspecifiedMatching +OMIM:601369 deafness, autosomal dominant 9 skos:exactMatch MONDO:0011058 semapv:UnspecifiedMatching +OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis skos:exactMatch MONDO:0011059 semapv:UnspecifiedMatching +OMIM:601371 cataract, age-related nuclear skos:exactMatch MONDO:0011060 semapv:UnspecifiedMatching +OMIM:601372 chorea, remitting, with nystagmus and cataract skos:exactMatch MONDO:0011061 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C1332700 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C1835867 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C1836031 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C1836230 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C2677247 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016727 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016728 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016729 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016730 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4016731 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch UMLS:C4017844 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:1606 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:CCR5 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch ncbigene:1234 semapv:UnspecifiedMatching +OMIM:601374 aprosencephaly and cerebellar dysgenesis skos:exactMatch MONDO:0011062 semapv:UnspecifiedMatching +OMIM:601375 ectodermal dysplasia, hidrotic, christianson-fourie iia skos:exactMatch MONDO:0011063 semapv:UnspecifiedMatching +OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density skos:exactMatch MONDO:0011064 semapv:UnspecifiedMatching +OMIM:601379 hunter-mcalpine craniosynostosis syndrome skos:exactMatch MONDO:0011065 semapv:UnspecifiedMatching +OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:3224 semapv:UnspecifiedMatching +OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:EFNA4 semapv:UnspecifiedMatching +OMIM:601380 EFNA4 skos:exactMatch ncbigene:1945 semapv:UnspecifiedMatching +OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:3223 semapv:UnspecifiedMatching +OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:EFNA3 semapv:UnspecifiedMatching +OMIM:601381 EFNA3 skos:exactMatch ncbigene:1944 semapv:UnspecifiedMatching +OMIM:601382 charcot-marie-tooth disease, iia 4b1 skos:exactMatch MONDO:0011066 semapv:UnspecifiedMatching +OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:639 semapv:UnspecifiedMatching +OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:AQP6 semapv:UnspecifiedMatching +OMIM:601383 AQP6 skos:exactMatch ncbigene:363 semapv:UnspecifiedMatching +OMIM:601384 LY6E skos:exactMatch hgnc.symbol:6727 semapv:UnspecifiedMatching +OMIM:601384 LY6E skos:exactMatch hgnc.symbol:LY6E semapv:UnspecifiedMatching +OMIM:601384 LY6E skos:exactMatch ncbigene:4061 semapv:UnspecifiedMatching +OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:30242 semapv:UnspecifiedMatching +OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:TUSC3 semapv:UnspecifiedMatching +OMIM:601385 TUSC3 skos:exactMatch ncbigene:7991 semapv:UnspecifiedMatching +OMIM:601386 deafness, autosomal recessive 12 skos:exactMatch MONDO:0011067 semapv:UnspecifiedMatching +OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:15971 semapv:UnspecifiedMatching +OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:TSG101 semapv:UnspecifiedMatching +OMIM:601387 TSG101 skos:exactMatch ncbigene:7251 semapv:UnspecifiedMatching +OMIM:601388 iia 1 diabetes mellitus 12 skos:exactMatch MONDO:0011068 semapv:UnspecifiedMatching +OMIM:601388 iia 1 diabetes mellitus 12 skos:exactMatch UMLS:C1832392 semapv:UnspecifiedMatching +OMIM:601389 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch MONDO:0011069 semapv:UnspecifiedMatching +OMIM:601390 van maldergem syndrome 1 skos:exactMatch MONDO:0011070 semapv:UnspecifiedMatching +OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:10611 semapv:UnspecifiedMatching +OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:CCL13 semapv:UnspecifiedMatching +OMIM:601391 CCL13 skos:exactMatch ncbigene:6357 semapv:UnspecifiedMatching +OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:10612 semapv:UnspecifiedMatching +OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:CCL14 semapv:UnspecifiedMatching +OMIM:601392 CCL14 skos:exactMatch ncbigene:6358 semapv:UnspecifiedMatching +OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:10613 semapv:UnspecifiedMatching +OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:CCL15 semapv:UnspecifiedMatching +OMIM:601393 CCL15 skos:exactMatch ncbigene:6359 semapv:UnspecifiedMatching +OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:10614 semapv:UnspecifiedMatching +OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:CCL16 semapv:UnspecifiedMatching +OMIM:601394 CCL16 skos:exactMatch ncbigene:6360 semapv:UnspecifiedMatching +OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:10628 semapv:UnspecifiedMatching +OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:CCL3L1 semapv:UnspecifiedMatching +OMIM:601395 CCL3L1 skos:exactMatch ncbigene:6349 semapv:UnspecifiedMatching +OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:12789 semapv:UnspecifiedMatching +OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:WNT8B semapv:UnspecifiedMatching +OMIM:601396 WNT8B skos:exactMatch ncbigene:7479 semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch UMLS:C1420562 semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch UMLS:C3810343 semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch hgnc.symbol:11515 semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch hgnc.symbol:TBXT semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch ncbigene:6862 semapv:UnspecifiedMatching +OMIM:601398 VEGFB skos:exactMatch hgnc.symbol:12681 semapv:UnspecifiedMatching +OMIM:601398 VEGFB skos:exactMatch hgnc.symbol:VEGFB semapv:UnspecifiedMatching +OMIM:601398 VEGFB skos:exactMatch ncbigene:7423 semapv:UnspecifiedMatching +OMIM:601399 platelet disorder, familial, with associated myeloid malignancy skos:exactMatch MONDO:0100083 semapv:UnspecifiedMatching +OMIM:601401 MLF2 skos:exactMatch hgnc.symbol:7126 semapv:UnspecifiedMatching +OMIM:601401 MLF2 skos:exactMatch hgnc.symbol:MLF2 semapv:UnspecifiedMatching +OMIM:601401 MLF2 skos:exactMatch ncbigene:8079 semapv:UnspecifiedMatching +OMIM:601402 MLF1 skos:exactMatch hgnc.symbol:7125 semapv:UnspecifiedMatching +OMIM:601402 MLF1 skos:exactMatch hgnc.symbol:MLF1 semapv:UnspecifiedMatching +OMIM:601402 MLF1 skos:exactMatch ncbigene:4291 semapv:UnspecifiedMatching +OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:2987 semapv:UnspecifiedMatching +OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:DOCK1 semapv:UnspecifiedMatching +OMIM:601403 DOCK1 skos:exactMatch ncbigene:1793 semapv:UnspecifiedMatching +OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:4519 semapv:UnspecifiedMatching +OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:GPR68 semapv:UnspecifiedMatching +OMIM:601404 GPR68 skos:exactMatch ncbigene:8111 semapv:UnspecifiedMatching +OMIM:601405 CTRC skos:exactMatch hgnc.symbol:2523 semapv:UnspecifiedMatching +OMIM:601405 CTRC skos:exactMatch hgnc.symbol:CTRC semapv:UnspecifiedMatching +OMIM:601405 CTRC skos:exactMatch ncbigene:11330 semapv:UnspecifiedMatching +OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:1004 semapv:UnspecifiedMatching +OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:BCL7A semapv:UnspecifiedMatching +OMIM:601406 BCL7A skos:exactMatch ncbigene:605 semapv:UnspecifiedMatching +OMIM:601407 iia 2 diabetes mellitus 2 skos:exactMatch MONDO:0011072 semapv:UnspecifiedMatching +OMIM:601407 iia 2 diabetes mellitus 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch UMLS:C1421709 semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:13013 semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:KAT6A semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch ncbigene:7994 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch UMLS:C1333931 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:5275 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:KAT5 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch ncbigene:10524 semapv:UnspecifiedMatching +OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch MONDO:0011073 semapv:UnspecifiedMatching +OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching +OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch UMLS:C1832386 semapv:UnspecifiedMatching +OMIM:601411 SGCD skos:exactMatch hgnc.symbol:10807 semapv:UnspecifiedMatching +OMIM:601411 SGCD skos:exactMatch hgnc.symbol:SGCD semapv:UnspecifiedMatching +OMIM:601411 SGCD skos:exactMatch ncbigene:6444 semapv:UnspecifiedMatching +OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch MONDO:0011074 semapv:UnspecifiedMatching +OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching +OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:2884 semapv:UnspecifiedMatching +OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:DIO2 semapv:UnspecifiedMatching +OMIM:601413 DIO2 skos:exactMatch ncbigene:1734 semapv:UnspecifiedMatching +OMIM:601414 retinitis pigmentosa 18 skos:exactMatch MONDO:0011075 semapv:UnspecifiedMatching +OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:7548 semapv:UnspecifiedMatching +OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:MYBL2 semapv:UnspecifiedMatching +OMIM:601415 MYBL2 skos:exactMatch ncbigene:4605 semapv:UnspecifiedMatching +OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:4927 semapv:UnspecifiedMatching +OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:SLC39A7 semapv:UnspecifiedMatching +OMIM:601416 SLC39A7 skos:exactMatch ncbigene:7922 semapv:UnspecifiedMatching +OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:3554 semapv:UnspecifiedMatching +OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:HSD17B8 semapv:UnspecifiedMatching +OMIM:601417 HSD17B8 skos:exactMatch ncbigene:7923 semapv:UnspecifiedMatching +OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:10448 semapv:UnspecifiedMatching +OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:RRBP1 semapv:UnspecifiedMatching +OMIM:601418 RRBP1 skos:exactMatch ncbigene:6238 semapv:UnspecifiedMatching +OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch MONDO:0011076 semapv:UnspecifiedMatching +OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch Orphanet:98909 semapv:UnspecifiedMatching +OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching +OMIM:601420 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch MONDO:0011077 semapv:UnspecifiedMatching +OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:6215 semapv:UnspecifiedMatching +OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:KARS1 semapv:UnspecifiedMatching +OMIM:601421 KARS1 skos:exactMatch ncbigene:3735 semapv:UnspecifiedMatching +OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:14985 semapv:UnspecifiedMatching +OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:LUZP1 semapv:UnspecifiedMatching +OMIM:601422 LUZP1 skos:exactMatch ncbigene:7798 semapv:UnspecifiedMatching +OMIM:601423 TDG skos:exactMatch hgnc.symbol:11700 semapv:UnspecifiedMatching +OMIM:601423 TDG skos:exactMatch hgnc.symbol:TDG semapv:UnspecifiedMatching +OMIM:601423 TDG skos:exactMatch ncbigene:6996 semapv:UnspecifiedMatching +OMIM:601424 OXCT1 skos:exactMatch hgnc.symbol:8527 semapv:UnspecifiedMatching +OMIM:601424 OXCT1 skos:exactMatch hgnc.symbol:OXCT1 semapv:UnspecifiedMatching +OMIM:601424 OXCT1 skos:exactMatch ncbigene:5019 semapv:UnspecifiedMatching +OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:11612 semapv:UnspecifiedMatching +OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:TCEA1 semapv:UnspecifiedMatching +OMIM:601425 TCEA1 skos:exactMatch ncbigene:6917 semapv:UnspecifiedMatching +OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:7972 semapv:UnspecifiedMatching +OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:NR2C2 semapv:UnspecifiedMatching +OMIM:601426 NR2C2 skos:exactMatch ncbigene:7182 semapv:UnspecifiedMatching +OMIM:601427 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch MONDO:0011078 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1832361 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1846059 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:34016 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:RNU4ATAC semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch ncbigene:100151683 semapv:UnspecifiedMatching +OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:34017 semapv:UnspecifiedMatching +OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:RNU6ATAC semapv:UnspecifiedMatching +OMIM:601429 RNU6ATAC skos:exactMatch ncbigene:100151684 semapv:UnspecifiedMatching +OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:9962 semapv:UnspecifiedMatching +OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:UPF1 semapv:UnspecifiedMatching +OMIM:601430 UPF1 skos:exactMatch ncbigene:5976 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch UMLS:C1420951 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:12098 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:TRA-TGC7-1 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch ncbigene:7154 semapv:UnspecifiedMatching +OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:12345 semapv:UnspecifiedMatching +OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:TRR-TCG4-1 semapv:UnspecifiedMatching +OMIM:601432 TRR-TCG4-1 skos:exactMatch ncbigene:7232 semapv:UnspecifiedMatching +OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:10899 semapv:UnspecifiedMatching +OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:SKP1 semapv:UnspecifiedMatching +OMIM:601434 SKP1 skos:exactMatch ncbigene:6500 semapv:UnspecifiedMatching +OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:10900 semapv:UnspecifiedMatching +OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:SKP1P2 semapv:UnspecifiedMatching +OMIM:601435 SKP1P2 skos:exactMatch ncbigene:728622 semapv:UnspecifiedMatching +OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:10901 semapv:UnspecifiedMatching +OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:SKP2 semapv:UnspecifiedMatching +OMIM:601436 SKP2 skos:exactMatch ncbigene:6502 semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch UMLS:C1414557 semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:3621 semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:FCGRT semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch ncbigene:2217 semapv:UnspecifiedMatching +OMIM:601438 rhizomelic dysplasia, patterson-lowry iia skos:exactMatch MONDO:0011079 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch UMLS:C0795905 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch UMLS:C1412083 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch UMLS:C3279695 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:60 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:ABCC9 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch ncbigene:10060 semapv:UnspecifiedMatching +OMIM:601440 DGKE skos:exactMatch hgnc.symbol:2852 semapv:UnspecifiedMatching +OMIM:601440 DGKE skos:exactMatch hgnc.symbol:DGKE semapv:UnspecifiedMatching +OMIM:601440 DGKE skos:exactMatch ncbigene:8526 semapv:UnspecifiedMatching +OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:2857 semapv:UnspecifiedMatching +OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:DGKZ semapv:UnspecifiedMatching +OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch ncbigene:8525 semapv:UnspecifiedMatching +OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:1874 semapv:UnspecifiedMatching +OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:CFL1 semapv:UnspecifiedMatching +OMIM:601442 CFL1 skos:exactMatch ncbigene:1072 semapv:UnspecifiedMatching +OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:1875 semapv:UnspecifiedMatching +OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:CFL2 semapv:UnspecifiedMatching +OMIM:601443 CFL2 skos:exactMatch ncbigene:1073 semapv:UnspecifiedMatching +OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:4200 semapv:UnspecifiedMatching +OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:BLOC1S1 semapv:UnspecifiedMatching +OMIM:601444 BLOC1S1 skos:exactMatch ncbigene:2647 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch UMLS:C1417641 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch UMLS:C4748803 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:7704 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:NDUFB9 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch ncbigene:4715 semapv:UnspecifiedMatching +OMIM:601447 USP5 skos:exactMatch hgnc.symbol:12628 semapv:UnspecifiedMatching +OMIM:601447 USP5 skos:exactMatch hgnc.symbol:USP5 semapv:UnspecifiedMatching +OMIM:601447 USP5 skos:exactMatch ncbigene:8078 semapv:UnspecifiedMatching +OMIM:601448 NPAT skos:exactMatch hgnc.symbol:7896 semapv:UnspecifiedMatching +OMIM:601448 NPAT skos:exactMatch hgnc.symbol:NPAT semapv:UnspecifiedMatching +OMIM:601448 NPAT skos:exactMatch ncbigene:4863 semapv:UnspecifiedMatching +OMIM:601449 deafness, progressive, with stapes fixation skos:exactMatch MONDO:0011080 semapv:UnspecifiedMatching +OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism skos:exactMatch MONDO:0011081 semapv:UnspecifiedMatching +OMIM:601452 oculoauriculofrontonasal syndrome skos:exactMatch MONDO:0011082 semapv:UnspecifiedMatching +OMIM:601453 trichodental dysplasia skos:exactMatch MONDO:0011083 semapv:UnspecifiedMatching +OMIM:601454 psoriasis 3, susceptibility to skos:exactMatch MONDO:0011084 semapv:UnspecifiedMatching +OMIM:601455 charcot-marie-tooth disease, iia 4d skos:exactMatch MONDO:0011085 semapv:UnspecifiedMatching +OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:7178 semapv:UnspecifiedMatching +OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:MMRN1 semapv:UnspecifiedMatching +OMIM:601456 MMRN1 skos:exactMatch ncbigene:22915 semapv:UnspecifiedMatching +OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive skos:exactMatch MONDO:0011086 semapv:UnspecifiedMatching +OMIM:601458 inflammatory bowel disease 2 skos:exactMatch MONDO:0011087 semapv:UnspecifiedMatching +OMIM:601459 PNOC skos:exactMatch hgnc.symbol:9163 semapv:UnspecifiedMatching +OMIM:601459 PNOC skos:exactMatch hgnc.symbol:PNOC semapv:UnspecifiedMatching +OMIM:601459 PNOC skos:exactMatch ncbigene:5368 semapv:UnspecifiedMatching +OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:10955 semapv:UnspecifiedMatching +OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:SLCO2A1 semapv:UnspecifiedMatching +OMIM:601460 SLCO2A1 skos:exactMatch ncbigene:6578 semapv:UnspecifiedMatching +OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:797 semapv:UnspecifiedMatching +OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:ATOH1 semapv:UnspecifiedMatching +OMIM:601461 ATOH1 skos:exactMatch ncbigene:474 semapv:UnspecifiedMatching +OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel skos:exactMatch MONDO:0011088 semapv:UnspecifiedMatching +OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:4818 semapv:UnspecifiedMatching +OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:HAS1 semapv:UnspecifiedMatching +OMIM:601463 HAS1 skos:exactMatch ncbigene:3036 semapv:UnspecifiedMatching +OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:6473 semapv:UnspecifiedMatching +OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:AFF3 semapv:UnspecifiedMatching +OMIM:601464 AFF3 skos:exactMatch ncbigene:3899 semapv:UnspecifiedMatching +OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:2858 semapv:UnspecifiedMatching +OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:DGUOK semapv:UnspecifiedMatching +OMIM:601465 DGUOK skos:exactMatch ncbigene:1716 semapv:UnspecifiedMatching +OMIM:601466 patent ductus venosus skos:exactMatch MONDO:0011089 semapv:UnspecifiedMatching +OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:6763 semapv:UnspecifiedMatching +OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:MAD2L1 semapv:UnspecifiedMatching +OMIM:601467 MAD2L1 skos:exactMatch ncbigene:4085 semapv:UnspecifiedMatching +OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:6904 semapv:UnspecifiedMatching +OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:MAT2A semapv:UnspecifiedMatching +OMIM:601468 MAT2A skos:exactMatch ncbigene:4144 semapv:UnspecifiedMatching +OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:9609 semapv:UnspecifiedMatching +OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:PTH2R semapv:UnspecifiedMatching +OMIM:601469 PTH2R skos:exactMatch ncbigene:5746 semapv:UnspecifiedMatching +OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:2558 semapv:UnspecifiedMatching +OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:CX3CR1 semapv:UnspecifiedMatching +OMIM:601470 CX3CR1 skos:exactMatch ncbigene:1524 semapv:UnspecifiedMatching +OMIM:601471 facial paresis, hereditary congenital, 1 skos:exactMatch MONDO:0024466 semapv:UnspecifiedMatching +OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch MONDO:0011091 semapv:UnspecifiedMatching +OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching +OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching +OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:13146 semapv:UnspecifiedMatching +OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:ZNF75A semapv:UnspecifiedMatching +OMIM:601473 ZNF75A skos:exactMatch ncbigene:7627 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch UMLS:C1419145 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:9711 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:PWP2 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch ncbigene:5822 semapv:UnspecifiedMatching +OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:29612 semapv:UnspecifiedMatching +OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:LAPTM5 semapv:UnspecifiedMatching +OMIM:601476 LAPTM5 skos:exactMatch ncbigene:7805 semapv:UnspecifiedMatching +OMIM:601477 ribbing disease skos:exactMatch MONDO:0011092 semapv:UnspecifiedMatching +OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:7595 semapv:UnspecifiedMatching +OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:MYO1A semapv:UnspecifiedMatching +OMIM:601478 MYO1A skos:exactMatch ncbigene:4640 semapv:UnspecifiedMatching +OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:7599 semapv:UnspecifiedMatching +OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:MYO1E semapv:UnspecifiedMatching +OMIM:601479 MYO1E skos:exactMatch ncbigene:4643 semapv:UnspecifiedMatching +OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:7600 semapv:UnspecifiedMatching +OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:MYO1F semapv:UnspecifiedMatching +OMIM:601480 MYO1F skos:exactMatch ncbigene:4542 semapv:UnspecifiedMatching +OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:7593 semapv:UnspecifiedMatching +OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:MYO10 semapv:UnspecifiedMatching +OMIM:601481 MYO10 skos:exactMatch ncbigene:4651 semapv:UnspecifiedMatching +OMIM:601482 DR1 skos:exactMatch hgnc.symbol:3017 semapv:UnspecifiedMatching +OMIM:601482 DR1 skos:exactMatch hgnc.symbol:DR1 semapv:UnspecifiedMatching +OMIM:601482 DR1 skos:exactMatch ncbigene:1810 semapv:UnspecifiedMatching +OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:8826 semapv:UnspecifiedMatching +OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:PEG3 semapv:UnspecifiedMatching +OMIM:601483 PEG3 skos:exactMatch ncbigene:5178 semapv:UnspecifiedMatching +OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:10751 semapv:UnspecifiedMatching +OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:SELENOP semapv:UnspecifiedMatching +OMIM:601484 SELENOP skos:exactMatch ncbigene:6414 semapv:UnspecifiedMatching +OMIM:601485 STX1B skos:exactMatch hgnc.symbol:18539 semapv:UnspecifiedMatching +OMIM:601485 STX1B skos:exactMatch hgnc.symbol:STX1B semapv:UnspecifiedMatching +OMIM:601485 STX1B skos:exactMatch ncbigene:112755 semapv:UnspecifiedMatching +OMIM:601486 DAZL skos:exactMatch hgnc.symbol:2685 semapv:UnspecifiedMatching +OMIM:601486 DAZL skos:exactMatch hgnc.symbol:DAZL semapv:UnspecifiedMatching +OMIM:601486 DAZL skos:exactMatch ncbigene:1618 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C0028756 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C1335238 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C1720861 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C1832250 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C1832251 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C1832253 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C4016735 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C4016737 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C4016738 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C5193186 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch UMLS:C5436966 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch hgnc.symbol:9236 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch hgnc.symbol:PPARG semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch ncbigene:5468 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch UMLS:C1417610 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:7662 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:NCF4 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch ncbigene:4689 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch UMLS:C1456383 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch UMLS:C3900122 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:5468 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:IGFALS semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch ncbigene:3483 semapv:UnspecifiedMatching +OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:7780 semapv:UnspecifiedMatching +OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:NFE2 semapv:UnspecifiedMatching +OMIM:601490 NFE2 skos:exactMatch ncbigene:4778 semapv:UnspecifiedMatching +OMIM:601491 IPW skos:exactMatch hgnc.symbol:6109 semapv:UnspecifiedMatching +OMIM:601491 IPW skos:exactMatch hgnc.symbol:IPW semapv:UnspecifiedMatching +OMIM:601491 IPW skos:exactMatch ncbigene:3653 semapv:UnspecifiedMatching +OMIM:601492 mucopolysaccharidosis, iia 9 skos:exactMatch MONDO:0011093 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch MONDO:0011094 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:54260 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C1832244 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C3152137 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C4225414 semapv:UnspecifiedMatching +OMIM:601494 cardiomyopathy, dilated, 1d skos:exactMatch MONDO:0011095 semapv:UnspecifiedMatching +OMIM:601495 agammaglobulinemia 1, autosomal recessive skos:exactMatch MONDO:0020729 semapv:UnspecifiedMatching +OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:4243 semapv:UnspecifiedMatching +OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:GFRA1 semapv:UnspecifiedMatching +OMIM:601496 GFRA1 skos:exactMatch ncbigene:2674 semapv:UnspecifiedMatching +OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:937 semapv:UnspecifiedMatching +OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:BAG1 semapv:UnspecifiedMatching +OMIM:601497 BAG1 skos:exactMatch ncbigene:573 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C1418478 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C3553936 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C3553937 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch UMLS:C4693988 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:8859 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:PEX6 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch ncbigene:5190 semapv:UnspecifiedMatching +OMIM:601499 axenfeld-rieger syndrome, iia 2 skos:exactMatch MONDO:0011097 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch UMLS:C1364142 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch UMLS:C4310933 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch hgnc.symbol:11119 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch hgnc.symbol:SMO semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch ncbigene:6608 semapv:UnspecifiedMatching +OMIM:601501 VPS35 skos:exactMatch hgnc.symbol:13487 semapv:UnspecifiedMatching +OMIM:601501 VPS35 skos:exactMatch hgnc.symbol:VPS35 semapv:UnspecifiedMatching +OMIM:601501 VPS35 skos:exactMatch ncbigene:55737 semapv:UnspecifiedMatching +OMIM:601502 FCGR1B skos:exactMatch UMLS:C1414551 semapv:UnspecifiedMatching +OMIM:601502 FCGR1B skos:exactMatch hgnc.symbol:3614 semapv:UnspecifiedMatching +OMIM:601502 FCGR1B skos:exactMatch hgnc.symbol:FCGR1BP semapv:UnspecifiedMatching +OMIM:601502 FCGR1B skos:exactMatch ncbigene:2210 semapv:UnspecifiedMatching +OMIM:601503 FCGR1CP skos:exactMatch UMLS:C1414552 semapv:UnspecifiedMatching +OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:3615 semapv:UnspecifiedMatching +OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:FCGR1CP semapv:UnspecifiedMatching +OMIM:601503 FCGR1CP skos:exactMatch ncbigene:100132417 semapv:UnspecifiedMatching +OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:10698 semapv:UnspecifiedMatching +OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:SEC14L1 semapv:UnspecifiedMatching +OMIM:601504 SEC14L1 skos:exactMatch ncbigene:6397 semapv:UnspecifiedMatching +OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:12931 semapv:UnspecifiedMatching +OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:ZNF146 semapv:UnspecifiedMatching +OMIM:601505 ZNF146 skos:exactMatch ncbigene:7705 semapv:UnspecifiedMatching +OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:7729 semapv:UnspecifiedMatching +OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:SEPTIN2 semapv:UnspecifiedMatching +OMIM:601506 SEPT2 skos:exactMatch ncbigene:4735 semapv:UnspecifiedMatching +OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:2013 semapv:UnspecifiedMatching +OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:AP3S1 semapv:UnspecifiedMatching +OMIM:601507 AP3S1 skos:exactMatch ncbigene:1176 semapv:UnspecifiedMatching +OMIM:601509 GGH skos:exactMatch hgnc.symbol:4248 semapv:UnspecifiedMatching +OMIM:601509 GGH skos:exactMatch hgnc.symbol:GGH semapv:UnspecifiedMatching +OMIM:601509 GGH skos:exactMatch ncbigene:8836 semapv:UnspecifiedMatching +OMIM:601510 SCAP skos:exactMatch hgnc.symbol:30634 semapv:UnspecifiedMatching +OMIM:601510 SCAP skos:exactMatch hgnc.symbol:SCAP semapv:UnspecifiedMatching +OMIM:601510 SCAP skos:exactMatch ncbigene:22937 semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch UMLS:C1335875 semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:11366 semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:STAT5A semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch ncbigene:6776 semapv:UnspecifiedMatching +OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:11368 semapv:UnspecifiedMatching +OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:STAT6 semapv:UnspecifiedMatching +OMIM:601512 STAT6 skos:exactMatch ncbigene:6778 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch UMLS:C1414597 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:3668 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:FGF12 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch ncbigene:2257 semapv:UnspecifiedMatching +OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:3667 semapv:UnspecifiedMatching +OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:FGF11 semapv:UnspecifiedMatching +OMIM:601514 FGF11 skos:exactMatch ncbigene:2256 semapv:UnspecifiedMatching +OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:3671 semapv:UnspecifiedMatching +OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:FGF14 semapv:UnspecifiedMatching +OMIM:601515 FGF14 skos:exactMatch ncbigene:2259 semapv:UnspecifiedMatching +OMIM:601516 SF1 skos:exactMatch hgnc.symbol:12950 semapv:UnspecifiedMatching +OMIM:601516 SF1 skos:exactMatch hgnc.symbol:SF1 semapv:UnspecifiedMatching +OMIM:601516 SF1 skos:exactMatch ncbigene:7536 semapv:UnspecifiedMatching +OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:10555 semapv:UnspecifiedMatching +OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:ATXN2 semapv:UnspecifiedMatching +OMIM:601517 ATXN2 skos:exactMatch ncbigene:6311 semapv:UnspecifiedMatching +OMIM:601518 prostate cancer, hereditary, 1 skos:exactMatch MONDO:0011098 semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch UMLS:C1412667 semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:846 semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:ATP5ME semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch ncbigene:521 semapv:UnspecifiedMatching +OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:10615 semapv:UnspecifiedMatching +OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:CCL17 semapv:UnspecifiedMatching +OMIM:601520 CCL17 skos:exactMatch ncbigene:6361 semapv:UnspecifiedMatching +OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:3466 semapv:UnspecifiedMatching +OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:ESM1 semapv:UnspecifiedMatching +OMIM:601521 ESM1 skos:exactMatch ncbigene:11082 semapv:UnspecifiedMatching +OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:4567 semapv:UnspecifiedMatching +OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:GRB7 semapv:UnspecifiedMatching +OMIM:601522 GRB7 skos:exactMatch ncbigene:2886 semapv:UnspecifiedMatching +OMIM:601523 GRB10 skos:exactMatch UMLS:C1366512 semapv:UnspecifiedMatching +OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:4564 semapv:UnspecifiedMatching +OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:GRB10 semapv:UnspecifiedMatching +OMIM:601523 GRB10 skos:exactMatch ncbigene:2887 semapv:UnspecifiedMatching +OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:4565 semapv:UnspecifiedMatching +OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:GRB14 semapv:UnspecifiedMatching +OMIM:601524 GRB14 skos:exactMatch ncbigene:2888 semapv:UnspecifiedMatching +OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:1932 semapv:UnspecifiedMatching +OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:CHI3L1 semapv:UnspecifiedMatching +OMIM:601525 CHI3L1 skos:exactMatch ncbigene:1116 semapv:UnspecifiedMatching +OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:1933 semapv:UnspecifiedMatching +OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:CHI3L2 semapv:UnspecifiedMatching +OMIM:601526 CHI3L2 skos:exactMatch ncbigene:1117 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch UMLS:C1413127 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:1494 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:ALX1 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch ncbigene:8092 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch UMLS:C1336933 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch UMLS:C4747769 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:12682 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:VEGFC semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch ncbigene:7424 semapv:UnspecifiedMatching +OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:7971 semapv:UnspecifiedMatching +OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:NR2C1 semapv:UnspecifiedMatching +OMIM:601529 NR2C1 skos:exactMatch ncbigene:7181 semapv:UnspecifiedMatching +OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:11280 semapv:UnspecifiedMatching +OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:SQSTM1 semapv:UnspecifiedMatching +OMIM:601530 SQSTM1 skos:exactMatch ncbigene:8878 semapv:UnspecifiedMatching +OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:6713 semapv:UnspecifiedMatching +OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:LTB4R semapv:UnspecifiedMatching +OMIM:601531 LTB4R skos:exactMatch ncbigene:1241 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch UMLS:C1332665 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:1507 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:CASP6 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch ncbigene:839 semapv:UnspecifiedMatching +OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:198 semapv:UnspecifiedMatching +OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:ADAM2 semapv:UnspecifiedMatching +OMIM:601533 ADAM2 skos:exactMatch ncbigene:2515 semapv:UnspecifiedMatching +OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:6264 semapv:UnspecifiedMatching +OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:KCNJ3 semapv:UnspecifiedMatching +OMIM:601534 KCNJ3 skos:exactMatch ncbigene:3760 semapv:UnspecifiedMatching +OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:3225 semapv:UnspecifiedMatching +OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:EFNA5 semapv:UnspecifiedMatching +OMIM:601535 EFNA5 skos:exactMatch ncbigene:1946 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch MONDO:0011099 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching +OMIM:601537 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch MONDO:0011100 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch UMLS:C1418947 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:9455 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:PROP1 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch ncbigene:5626 semapv:UnspecifiedMatching +OMIM:601539 peroxisome biogenesis disorder 1b skos:exactMatch MONDO:0011101 semapv:UnspecifiedMatching +OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:1103 semapv:UnspecifiedMatching +OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:BRD2 semapv:UnspecifiedMatching +OMIM:601540 BRD2 skos:exactMatch ncbigene:6046 semapv:UnspecifiedMatching +OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:1104 semapv:UnspecifiedMatching +OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:BRD3 semapv:UnspecifiedMatching +OMIM:601541 BRD3 skos:exactMatch ncbigene:8019 semapv:UnspecifiedMatching +OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:9005 semapv:UnspecifiedMatching +OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:PITX2 semapv:UnspecifiedMatching +OMIM:601542 PITX2 skos:exactMatch ncbigene:5308 semapv:UnspecifiedMatching +OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch MONDO:0011102 semapv:UnspecifiedMatching +OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch UMLS:C1832187 semapv:UnspecifiedMatching +OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch MONDO:0011103 semapv:UnspecifiedMatching +OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching +OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:8574 semapv:UnspecifiedMatching +OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:PAFAH1B1 semapv:UnspecifiedMatching +OMIM:601545 PAFAH1B1 skos:exactMatch ncbigene:5048 semapv:UnspecifiedMatching +OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:9459 semapv:UnspecifiedMatching +OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:PROX1 semapv:UnspecifiedMatching +OMIM:601546 PROX1 skos:exactMatch ncbigene:5629 semapv:UnspecifiedMatching +OMIM:601547 cataract 3, multiple types skos:exactMatch MONDO:0011104 semapv:UnspecifiedMatching +OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:3218 semapv:UnspecifiedMatching +OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:EFEMP1 semapv:UnspecifiedMatching +OMIM:601548 EFEMP1 skos:exactMatch ncbigene:2202 semapv:UnspecifiedMatching +OMIM:601549 alacrima, congenital, autosomal recessive skos:exactMatch MONDO:0011105 semapv:UnspecifiedMatching +OMIM:601552 traboulsi syndrome skos:exactMatch MONDO:0011106 semapv:UnspecifiedMatching +OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy skos:exactMatch MONDO:0011107 semapv:UnspecifiedMatching +OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:11697 semapv:UnspecifiedMatching +OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:DYNLT1 semapv:UnspecifiedMatching +OMIM:601554 DYNLT1 skos:exactMatch ncbigene:6993 semapv:UnspecifiedMatching +OMIM:601555 RND2 skos:exactMatch hgnc.symbol:18315 semapv:UnspecifiedMatching +OMIM:601555 RND2 skos:exactMatch hgnc.symbol:RND2 semapv:UnspecifiedMatching +OMIM:601555 RND2 skos:exactMatch ncbigene:8153 semapv:UnspecifiedMatching +OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:10548 semapv:UnspecifiedMatching +OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:ATXN1 semapv:UnspecifiedMatching +OMIM:601556 ATXN1 skos:exactMatch ncbigene:6310 semapv:UnspecifiedMatching +OMIM:601557 ACACB skos:exactMatch hgnc.symbol:85 semapv:UnspecifiedMatching +OMIM:601557 ACACB skos:exactMatch hgnc.symbol:ACACB semapv:UnspecifiedMatching +OMIM:601557 ACACB skos:exactMatch ncbigene:32 semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch UMLS:C1426009 semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:19097 semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:RBPMS semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch ncbigene:11030 semapv:UnspecifiedMatching +OMIM:601559 stuve-wiedemann syndrome 1 skos:exactMatch MONDO:0800043 semapv:UnspecifiedMatching +OMIM:601560 multiple epiphyseal dysplasia with robin phenotype skos:exactMatch MONDO:0011109 semapv:UnspecifiedMatching +OMIM:601561 dyssegmental dysplasia with glaucoma skos:exactMatch MONDO:0011110 semapv:UnspecifiedMatching +OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:15476 semapv:UnspecifiedMatching +OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:DYNLL1 semapv:UnspecifiedMatching +OMIM:601562 DYNLL1 skos:exactMatch ncbigene:8655 semapv:UnspecifiedMatching +OMIM:601563 skos:exactMatch MONDO:0011111 semapv:UnspecifiedMatching +OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:9483 semapv:UnspecifiedMatching +OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:PRSS2 semapv:UnspecifiedMatching +OMIM:601564 PRSS2 skos:exactMatch ncbigene:5645 semapv:UnspecifiedMatching +OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:5358 semapv:UnspecifiedMatching +OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:IRF8 semapv:UnspecifiedMatching +OMIM:601565 IRF8 skos:exactMatch ncbigene:3394 semapv:UnspecifiedMatching +OMIM:601566 ING1 skos:exactMatch hgnc.symbol:6062 semapv:UnspecifiedMatching +OMIM:601566 ING1 skos:exactMatch hgnc.symbol:ING1 semapv:UnspecifiedMatching +OMIM:601566 ING1 skos:exactMatch ncbigene:3621 semapv:UnspecifiedMatching +OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:6631 semapv:UnspecifiedMatching +OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:LMAN1 semapv:UnspecifiedMatching +OMIM:601567 LMAN1 skos:exactMatch ncbigene:3998 semapv:UnspecifiedMatching +OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:245 semapv:UnspecifiedMatching +OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:ADD3 semapv:UnspecifiedMatching +OMIM:601568 ADD3 skos:exactMatch ncbigene:120 semapv:UnspecifiedMatching +OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:12482 semapv:UnspecifiedMatching +OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:UBE2G1 semapv:UnspecifiedMatching +OMIM:601569 UBE2G1 skos:exactMatch ncbigene:7326 semapv:UnspecifiedMatching +OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:12786 semapv:UnspecifiedMatching +OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:WNT7A semapv:UnspecifiedMatching +OMIM:601570 WNT7A skos:exactMatch ncbigene:7476 semapv:UnspecifiedMatching +OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:1490 semapv:UnspecifiedMatching +OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:CAPZA2 semapv:UnspecifiedMatching +OMIM:601571 CAPZA2 skos:exactMatch ncbigene:830 semapv:UnspecifiedMatching +OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:1491 semapv:UnspecifiedMatching +OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:CAPZB semapv:UnspecifiedMatching +OMIM:601572 CAPZB skos:exactMatch ncbigene:832 semapv:UnspecifiedMatching +OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:3527 semapv:UnspecifiedMatching +OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:EZH2 semapv:UnspecifiedMatching +OMIM:601573 EZH2 skos:exactMatch ncbigene:2146 semapv:UnspecifiedMatching +OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:11547 semapv:UnspecifiedMatching +OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:TAF15 semapv:UnspecifiedMatching +OMIM:601574 TAF15 skos:exactMatch ncbigene:8148 semapv:UnspecifiedMatching +OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:3798 semapv:UnspecifiedMatching +OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:FOSL2 semapv:UnspecifiedMatching +OMIM:601575 FOSL2 skos:exactMatch ncbigene:2355 semapv:UnspecifiedMatching +OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:9681 semapv:UnspecifiedMatching +OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:PTPRS semapv:UnspecifiedMatching +OMIM:601576 PTPRS skos:exactMatch ncbigene:5802 semapv:UnspecifiedMatching +OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:9667 semapv:UnspecifiedMatching +OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:PTPRCAP semapv:UnspecifiedMatching +OMIM:601577 PTPRCAP skos:exactMatch ncbigene:5790 semapv:UnspecifiedMatching +OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:1592 semapv:UnspecifiedMatching +OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:CCNG1 semapv:UnspecifiedMatching +OMIM:601578 CCNG1 skos:exactMatch ncbigene:900 semapv:UnspecifiedMatching +OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:8095 semapv:UnspecifiedMatching +OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:OAZ1 semapv:UnspecifiedMatching +OMIM:601579 OAZ1 skos:exactMatch ncbigene:4946 semapv:UnspecifiedMatching +OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:1488 semapv:UnspecifiedMatching +OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:CAPZA1 semapv:UnspecifiedMatching +OMIM:601580 CAPZA1 skos:exactMatch ncbigene:829 semapv:UnspecifiedMatching +OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:7994 semapv:UnspecifiedMatching +OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:NRCAM semapv:UnspecifiedMatching +OMIM:601581 NRCAM skos:exactMatch ncbigene:4897 semapv:UnspecifiedMatching +OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:6079 semapv:UnspecifiedMatching +OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:INPP5D semapv:UnspecifiedMatching +OMIM:601582 INPP5D skos:exactMatch ncbigene:3635 semapv:UnspecifiedMatching +OMIM:601583 wilms tumor 5 skos:exactMatch MONDO:0011112 semapv:UnspecifiedMatching +OMIM:601583 wilms tumor 5 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching +OMIM:601583 wilms tumor 5 skos:exactMatch UMLS:C1832099 semapv:UnspecifiedMatching +OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:9635 semapv:UnspecifiedMatching +OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:PTP4A2 semapv:UnspecifiedMatching +OMIM:601584 PTP4A2 skos:exactMatch ncbigene:8073 semapv:UnspecifiedMatching +OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:9634 semapv:UnspecifiedMatching +OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:PTP4A1 semapv:UnspecifiedMatching +OMIM:601585 PTP4A1 skos:exactMatch ncbigene:7803 semapv:UnspecifiedMatching +OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:9596 semapv:UnspecifiedMatching +OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:PTGER4 semapv:UnspecifiedMatching +OMIM:601586 PTGER4 skos:exactMatch ncbigene:5734 semapv:UnspecifiedMatching +OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:9872 semapv:UnspecifiedMatching +OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:RASA2 semapv:UnspecifiedMatching +OMIM:601589 RASA2 skos:exactMatch ncbigene:5922 semapv:UnspecifiedMatching +OMIM:601590 EVPL skos:exactMatch hgnc.symbol:3503 semapv:UnspecifiedMatching +OMIM:601590 EVPL skos:exactMatch hgnc.symbol:EVPL semapv:UnspecifiedMatching +OMIM:601590 EVPL skos:exactMatch ncbigene:2125 semapv:UnspecifiedMatching +OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:9416 semapv:UnspecifiedMatching +OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:PRKG2 semapv:UnspecifiedMatching +OMIM:601591 PRKG2 skos:exactMatch ncbigene:5593 semapv:UnspecifiedMatching +OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:9863 semapv:UnspecifiedMatching +OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:RAPSN semapv:UnspecifiedMatching +OMIM:601592 RAPSN skos:exactMatch ncbigene:5913 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch UMLS:C1332381 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:952 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:BARD1 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch ncbigene:580 semapv:UnspecifiedMatching +OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:6196 semapv:UnspecifiedMatching +OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:JARID2 semapv:UnspecifiedMatching +OMIM:601594 JARID2 skos:exactMatch ncbigene:3720 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch UMLS:C1416962 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:6767 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:SMAD1 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch ncbigene:4086 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch MONDO:0011113 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch UMLS:C1366526 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:1131 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:BTG2 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch ncbigene:7832 semapv:UnspecifiedMatching +OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:9668 semapv:UnspecifiedMatching +OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:PTPRD semapv:UnspecifiedMatching +OMIM:601598 PTPRD skos:exactMatch ncbigene:5789 semapv:UnspecifiedMatching +OMIM:601599 SSPN skos:exactMatch hgnc.symbol:11322 semapv:UnspecifiedMatching +OMIM:601599 SSPN skos:exactMatch hgnc.symbol:SSPN semapv:UnspecifiedMatching +OMIM:601599 SSPN skos:exactMatch ncbigene:8082 semapv:UnspecifiedMatching +OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:3494 semapv:UnspecifiedMatching +OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:ETV5 semapv:UnspecifiedMatching +OMIM:601600 ETV5 skos:exactMatch ncbigene:2119 semapv:UnspecifiedMatching +OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:11743 semapv:UnspecifiedMatching +OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:TFAP2B semapv:UnspecifiedMatching +OMIM:601601 TFAP2B skos:exactMatch ncbigene:7021 semapv:UnspecifiedMatching +OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:11744 semapv:UnspecifiedMatching +OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:TFAP2C semapv:UnspecifiedMatching +OMIM:601602 TFAP2C skos:exactMatch ncbigene:7022 semapv:UnspecifiedMatching +OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:6529 semapv:UnspecifiedMatching +OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:LCP2 semapv:UnspecifiedMatching +OMIM:601603 LCP2 skos:exactMatch ncbigene:3937 semapv:UnspecifiedMatching +OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:5971 semapv:UnspecifiedMatching +OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:IL12RB1 semapv:UnspecifiedMatching +OMIM:601604 IL12RB1 skos:exactMatch ncbigene:3594 semapv:UnspecifiedMatching +OMIM:601606 trichoepithelioma, multiple familial, 1 skos:exactMatch MONDO:0042977 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C0812273 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C2750405 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C3553248 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4016745 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4048809 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:11103 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:SMARCB1 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch ncbigene:6598 semapv:UnspecifiedMatching +OMIM:601608 spastic paraplegia and evans syndrome skos:exactMatch MONDO:0011115 semapv:UnspecifiedMatching +OMIM:601609 HADH skos:exactMatch hgnc.symbol:4799 semapv:UnspecifiedMatching +OMIM:601609 HADH skos:exactMatch hgnc.symbol:HADH semapv:UnspecifiedMatching +OMIM:601609 HADH skos:exactMatch ncbigene:3033 semapv:UnspecifiedMatching +OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:1135 semapv:UnspecifiedMatching +OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:BTN1A1 semapv:UnspecifiedMatching +OMIM:601610 BTN1A1 skos:exactMatch ncbigene:696 semapv:UnspecifiedMatching +OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:10919 semapv:UnspecifiedMatching +OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:SLC14A2 semapv:UnspecifiedMatching +OMIM:601611 SLC14A2 skos:exactMatch ncbigene:8170 semapv:UnspecifiedMatching +OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome skos:exactMatch MONDO:0011116 semapv:UnspecifiedMatching +OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:1060 semapv:UnspecifiedMatching +OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:CXCR5 semapv:UnspecifiedMatching +OMIM:601613 CXCR5 skos:exactMatch ncbigene:643 semapv:UnspecifiedMatching +OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:8029 semapv:UnspecifiedMatching +OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:NTN1 semapv:UnspecifiedMatching +OMIM:601614 NTN1 skos:exactMatch ncbigene:9423 semapv:UnspecifiedMatching +OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:33 semapv:UnspecifiedMatching +OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:ABCA3 semapv:UnspecifiedMatching +OMIM:601615 ABCA3 skos:exactMatch ncbigene:21 semapv:UnspecifiedMatching +OMIM:601616 iris pigment epithelium anomalies skos:exactMatch MONDO:0011117 semapv:UnspecifiedMatching +OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:9940 semapv:UnspecifiedMatching +OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:RDH5 semapv:UnspecifiedMatching +OMIM:601617 RDH5 skos:exactMatch ncbigene:5959 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch UMLS:C1420321 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch UMLS:C1843004 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:11194 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:SOX18 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch ncbigene:54345 semapv:UnspecifiedMatching +OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:9842 semapv:UnspecifiedMatching +OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:RALGDS semapv:UnspecifiedMatching +OMIM:601619 RALGDS skos:exactMatch ncbigene:5900 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch UMLS:C0265264 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch UMLS:C1420615 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:11604 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:TBX5 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch ncbigene:6910 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch UMLS:C1420613 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch UMLS:C1866994 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:11602 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:TBX3 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch ncbigene:6926 semapv:UnspecifiedMatching +OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:12428 semapv:UnspecifiedMatching +OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:TWIST1 semapv:UnspecifiedMatching +OMIM:601622 TWIST1 skos:exactMatch ncbigene:7291 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch UMLS:C1421293 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:12496 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:UBE3A semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch ncbigene:7337 semapv:UnspecifiedMatching +OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:3624 semapv:UnspecifiedMatching +OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:FCN2 semapv:UnspecifiedMatching +OMIM:601624 FCN2 skos:exactMatch ncbigene:2220 semapv:UnspecifiedMatching +OMIM:601625 ART1 skos:exactMatch hgnc.symbol:723 semapv:UnspecifiedMatching +OMIM:601625 ART1 skos:exactMatch hgnc.symbol:ART1 semapv:UnspecifiedMatching +OMIM:601625 ART1 skos:exactMatch ncbigene:417 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch MONDO:0018874 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:167714 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319465 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319480 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86845 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86846 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86851 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98277 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch UMLS:C0023467 semapv:UnspecifiedMatching +OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:11118 semapv:UnspecifiedMatching +OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:SMN2 semapv:UnspecifiedMatching +OMIM:601627 SMN2 skos:exactMatch ncbigene:6607 semapv:UnspecifiedMatching +OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:8742 semapv:UnspecifiedMatching +OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:PCP4 semapv:UnspecifiedMatching +OMIM:601629 PCP4 skos:exactMatch ncbigene:5121 semapv:UnspecifiedMatching +OMIM:601631 anterior segment dysgenesis 3 skos:exactMatch MONDO:0024456 semapv:UnspecifiedMatching +OMIM:601632 POU4F1 skos:exactMatch UMLS:C1418765 semapv:UnspecifiedMatching +OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:9218 semapv:UnspecifiedMatching +OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:POU4F1 semapv:UnspecifiedMatching +OMIM:601632 POU4F1 skos:exactMatch ncbigene:5457 semapv:UnspecifiedMatching +OMIM:601633 NSF skos:exactMatch hgnc.symbol:8016 semapv:UnspecifiedMatching +OMIM:601633 NSF skos:exactMatch hgnc.symbol:NSF semapv:UnspecifiedMatching +OMIM:601633 NSF skos:exactMatch ncbigene:4905 semapv:UnspecifiedMatching +OMIM:601634 neural tube defects, folate-sensitive skos:exactMatch MONDO:0011120 semapv:UnspecifiedMatching +OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:4819 semapv:UnspecifiedMatching +OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:HAS2 semapv:UnspecifiedMatching +OMIM:601636 HAS2 skos:exactMatch ncbigene:3037 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch UMLS:C1413892 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:2649 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:CYP51A1 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch ncbigene:1595 semapv:UnspecifiedMatching +OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:17160 semapv:UnspecifiedMatching +OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:ARFIP2 semapv:UnspecifiedMatching +OMIM:601638 ARFIP2 skos:exactMatch ncbigene:23647 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch UMLS:C1418901 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:9380 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:PRKACA semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch ncbigene:5566 semapv:UnspecifiedMatching +OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:120 semapv:UnspecifiedMatching +OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:ACOX2 semapv:UnspecifiedMatching +OMIM:601641 ACOX2 skos:exactMatch ncbigene:8309 semapv:UnspecifiedMatching +OMIM:601642 IL12RB2 skos:exactMatch hgnc.symbol:5972 semapv:UnspecifiedMatching +OMIM:601642 IL12RB2 skos:exactMatch hgnc.symbol:IL12RB2 semapv:UnspecifiedMatching +OMIM:601642 IL12RB2 skos:exactMatch ncbigene:3595 semapv:UnspecifiedMatching +OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:9309 semapv:UnspecifiedMatching +OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:PPP2R5A semapv:UnspecifiedMatching +OMIM:601643 PPP2R5A skos:exactMatch ncbigene:5525 semapv:UnspecifiedMatching +OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:9310 semapv:UnspecifiedMatching +OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:PPP2R5B semapv:UnspecifiedMatching +OMIM:601644 PPP2R5B skos:exactMatch ncbigene:5526 semapv:UnspecifiedMatching +OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:9311 semapv:UnspecifiedMatching +OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:PPP2R5C semapv:UnspecifiedMatching +OMIM:601645 PPP2R5C skos:exactMatch ncbigene:5527 semapv:UnspecifiedMatching +OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:9312 semapv:UnspecifiedMatching +OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:PPP2R5D semapv:UnspecifiedMatching +OMIM:601646 PPP2R5D skos:exactMatch ncbigene:5528 semapv:UnspecifiedMatching +OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:9313 semapv:UnspecifiedMatching +OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:PPP2R5E semapv:UnspecifiedMatching +OMIM:601647 PPP2R5E skos:exactMatch ncbigene:5529 semapv:UnspecifiedMatching +OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:9561 semapv:UnspecifiedMatching +OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:PSMD4 semapv:UnspecifiedMatching +OMIM:601648 PSMD4 skos:exactMatch ncbigene:5710 semapv:UnspecifiedMatching +OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 skos:exactMatch MONDO:0011121 semapv:UnspecifiedMatching +OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:7640 semapv:UnspecifiedMatching +OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:NAP1L4 semapv:UnspecifiedMatching +OMIM:601651 NAP1L4 skos:exactMatch ncbigene:4676 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch UMLS:C1417573 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch UMLS:C1842028 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch UMLS:C1866550 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch UMLS:C4016749 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch UMLS:C4016750 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch hgnc.symbol:7610 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch hgnc.symbol:MYOC semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch ncbigene:4653 semapv:UnspecifiedMatching +OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:3519 semapv:UnspecifiedMatching +OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:EYA1 semapv:UnspecifiedMatching +OMIM:601653 EYA1 skos:exactMatch ncbigene:2138 semapv:UnspecifiedMatching +OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:3520 semapv:UnspecifiedMatching +OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:EYA2 semapv:UnspecifiedMatching +OMIM:601654 EYA2 skos:exactMatch ncbigene:2139 semapv:UnspecifiedMatching +OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:3521 semapv:UnspecifiedMatching +OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:EYA3 semapv:UnspecifiedMatching +OMIM:601655 EYA3 skos:exactMatch ncbigene:2140 semapv:UnspecifiedMatching +OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:4174 semapv:UnspecifiedMatching +OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:GATA6 semapv:UnspecifiedMatching +OMIM:601656 GATA6 skos:exactMatch ncbigene:2627 semapv:UnspecifiedMatching +OMIM:601657 EPYC skos:exactMatch hgnc.symbol:3053 semapv:UnspecifiedMatching +OMIM:601657 EPYC skos:exactMatch hgnc.symbol:EPYC semapv:UnspecifiedMatching +OMIM:601657 EPYC skos:exactMatch ncbigene:1833 semapv:UnspecifiedMatching +OMIM:601658 OC90 skos:exactMatch hgnc.symbol:8100 semapv:UnspecifiedMatching +OMIM:601658 OC90 skos:exactMatch hgnc.symbol:OC90 semapv:UnspecifiedMatching +OMIM:601658 OC90 skos:exactMatch ncbigene:729330 semapv:UnspecifiedMatching +OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:1273 semapv:UnspecifiedMatching +OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:GATD3 semapv:UnspecifiedMatching +OMIM:601659 GATD3A skos:exactMatch ncbigene:8209 semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch UMLS:C1421283 semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:12485 semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:UBE2I semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch ncbigene:7329 semapv:UnspecifiedMatching +OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:400 semapv:UnspecifiedMatching +OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:ALCAM semapv:UnspecifiedMatching +OMIM:601662 ALCAM skos:exactMatch ncbigene:214 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch UMLS:C1414462 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch UMLS:C4748626 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:3468 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:ESR2 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch ncbigene:2100 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1540207 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:30859 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:SNRNP200 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch ncbigene:23020 semapv:UnspecifiedMatching +OMIM:601665 obesity skos:exactMatch MONDO:0019182 semapv:UnspecifiedMatching +OMIM:601666 iia 1 diabetes mellitus 15 skos:exactMatch MONDO:0011123 semapv:UnspecifiedMatching +OMIM:601666 iia 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching +OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:484 semapv:UnspecifiedMatching +OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:ANGPT1 semapv:UnspecifiedMatching +OMIM:601667 ANGPT1 skos:exactMatch ncbigene:284 semapv:UnspecifiedMatching +OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition skos:exactMatch MONDO:0011124 semapv:UnspecifiedMatching +OMIM:601670 DPF1 skos:exactMatch hgnc.symbol:20225 semapv:UnspecifiedMatching +OMIM:601670 DPF1 skos:exactMatch hgnc.symbol:DPF1 semapv:UnspecifiedMatching +OMIM:601670 DPF1 skos:exactMatch ncbigene:8193 semapv:UnspecifiedMatching +OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:9964 semapv:UnspecifiedMatching +OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:DPF2 semapv:UnspecifiedMatching +OMIM:601671 DPF2 skos:exactMatch ncbigene:5977 semapv:UnspecifiedMatching +OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:17427 semapv:UnspecifiedMatching +OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:DPF3 semapv:UnspecifiedMatching +OMIM:601672 DPF3 skos:exactMatch ncbigene:8110 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch UMLS:C1414372 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:3313 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:ELAVL2 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch ncbigene:1993 semapv:UnspecifiedMatching +OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:3526 semapv:UnspecifiedMatching +OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:EZH1 semapv:UnspecifiedMatching +OMIM:601674 EZH1 skos:exactMatch ncbigene:2145 semapv:UnspecifiedMatching +OMIM:601675 trichothiodystrophy 1, photosensitive skos:exactMatch MONDO:0011125 semapv:UnspecifiedMatching +OMIM:601676 acute insulin response skos:exactMatch MONDO:0011126 semapv:UnspecifiedMatching +OMIM:601677 NDUFA5 skos:exactMatch UMLS:C1417625 semapv:UnspecifiedMatching +OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:7688 semapv:UnspecifiedMatching +OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:NDUFA5 semapv:UnspecifiedMatching +OMIM:601677 NDUFA5 skos:exactMatch ncbigene:4698 semapv:UnspecifiedMatching +OMIM:601678 bartter syndrome, iia 1, antenatal skos:exactMatch MONDO:0100344 semapv:UnspecifiedMatching +OMIM:601679 GTF2I skos:exactMatch hgnc.symbol:4659 semapv:UnspecifiedMatching +OMIM:601679 GTF2I skos:exactMatch hgnc.symbol:GTF2I semapv:UnspecifiedMatching +OMIM:601679 GTF2I skos:exactMatch ncbigene:2969 semapv:UnspecifiedMatching +OMIM:601680 arthrogryposis, distal, iia 2b1 skos:exactMatch MONDO:0020820 semapv:UnspecifiedMatching +OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:9552 semapv:UnspecifiedMatching +OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:PSMC5 semapv:UnspecifiedMatching +OMIM:601681 PSMC5 skos:exactMatch ncbigene:5705 semapv:UnspecifiedMatching +OMIM:601682 glaucoma 1, primary open angle, c skos:exactMatch MONDO:0011129 semapv:UnspecifiedMatching +OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:2244 semapv:UnspecifiedMatching +OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:COQ7 semapv:UnspecifiedMatching +OMIM:601683 COQ7 skos:exactMatch ncbigene:10229 semapv:UnspecifiedMatching +OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:10430 semapv:UnspecifiedMatching +OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:RPS6KA1 semapv:UnspecifiedMatching +OMIM:601684 RPS6KA1 skos:exactMatch ncbigene:6195 semapv:UnspecifiedMatching +OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:10431 semapv:UnspecifiedMatching +OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:RPS6KA2 semapv:UnspecifiedMatching +OMIM:601685 RPS6KA2 skos:exactMatch ncbigene:6196 semapv:UnspecifiedMatching +OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:11726 semapv:UnspecifiedMatching +OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:TEP1 semapv:UnspecifiedMatching +OMIM:601686 TEP1 skos:exactMatch ncbigene:7011 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch UMLS:C1416715 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:6414 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:KRT12 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch ncbigene:3859 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch UMLS:C1415699 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch hgnc.symbol:5154 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch hgnc.symbol:HPGD semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch ncbigene:3248 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch UMLS:C1420572 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch UMLS:C4014449 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:11538 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:TAF4B semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch ncbigene:6875 semapv:UnspecifiedMatching +OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:9040 semapv:UnspecifiedMatching +OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:PLA2G7 semapv:UnspecifiedMatching +OMIM:601690 PLA2G7 skos:exactMatch ncbigene:7941 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1412063 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858080 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1866422 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch UMLS:C1970573 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:34 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:ABCA4 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch ncbigene:24 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C0339278 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1336623 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:11771 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:TGFBI semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch ncbigene:7045 semapv:UnspecifiedMatching +OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:12518 semapv:UnspecifiedMatching +OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:UCP2 semapv:UnspecifiedMatching +OMIM:601693 UCP2 skos:exactMatch ncbigene:7351 semapv:UnspecifiedMatching +OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:2446 semapv:UnspecifiedMatching +OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:CSN3 semapv:UnspecifiedMatching +OMIM:601695 CSN3 skos:exactMatch ncbigene:1448 semapv:UnspecifiedMatching +OMIM:601696 novelty seeking personality trait skos:exactMatch MONDO:0044269 semapv:UnspecifiedMatching +OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:8952 semapv:UnspecifiedMatching +OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:SERPINB8 semapv:UnspecifiedMatching +OMIM:601697 SERPINB8 skos:exactMatch ncbigene:5271 semapv:UnspecifiedMatching +OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:9677 semapv:UnspecifiedMatching +OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:PTPRN2 semapv:UnspecifiedMatching +OMIM:601698 PTPRN2 skos:exactMatch ncbigene:5799 semapv:UnspecifiedMatching +OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:9603 semapv:UnspecifiedMatching +OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:PTGIS semapv:UnspecifiedMatching +OMIM:601699 PTGIS skos:exactMatch ncbigene:5740 semapv:UnspecifiedMatching +OMIM:601700 sebaceous gland hyperplasia, familial presenile skos:exactMatch MONDO:0011130 semapv:UnspecifiedMatching +OMIM:601701 arthrogryposis and ectodermal dysplasia skos:exactMatch MONDO:0011131 semapv:UnspecifiedMatching +OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:10251 semapv:UnspecifiedMatching +OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:ROCK1 semapv:UnspecifiedMatching +OMIM:601702 ROCK1 skos:exactMatch ncbigene:6093 semapv:UnspecifiedMatching +OMIM:601703 VASP skos:exactMatch hgnc.symbol:12652 semapv:UnspecifiedMatching +OMIM:601703 VASP skos:exactMatch hgnc.symbol:VASP semapv:UnspecifiedMatching +OMIM:601703 VASP skos:exactMatch ncbigene:7408 semapv:UnspecifiedMatching +OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:7098 semapv:UnspecifiedMatching +OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:CXCL9 semapv:UnspecifiedMatching +OMIM:601704 CXCL9 skos:exactMatch ncbigene:4283 semapv:UnspecifiedMatching +OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch MONDO:0011132 semapv:UnspecifiedMatching +OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching +OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching +OMIM:601706 yemenite deaf-blind hypopigmentation syndrome skos:exactMatch MONDO:0011133 semapv:UnspecifiedMatching +OMIM:601707 curry-jones syndrome skos:exactMatch MONDO:0011134 semapv:UnspecifiedMatching +OMIM:601707 curry-jones syndrome skos:exactMatch Orphanet:1553 semapv:UnspecifiedMatching +OMIM:601707 curry-jones syndrome skos:exactMatch UMLS:C0795915 semapv:UnspecifiedMatching +OMIM:601708 superior transverse scapular ligament, calcification of, familial skos:exactMatch MONDO:0011135 semapv:UnspecifiedMatching +OMIM:601709 quebec platelet disorder skos:exactMatch MONDO:0011136 semapv:UnspecifiedMatching +OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:3299 semapv:UnspecifiedMatching +OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:EIF5 semapv:UnspecifiedMatching +OMIM:601710 EIF5 skos:exactMatch ncbigene:1983 semapv:UnspecifiedMatching +OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:12031 semapv:UnspecifiedMatching +OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:TRAF1 semapv:UnspecifiedMatching +OMIM:601711 TRAF1 skos:exactMatch ncbigene:7185 semapv:UnspecifiedMatching +OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:590 semapv:UnspecifiedMatching +OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:BIRC2 semapv:UnspecifiedMatching +OMIM:601712 BIRC2 skos:exactMatch ncbigene:329 semapv:UnspecifiedMatching +OMIM:601713 GMFB skos:exactMatch hgnc.symbol:4373 semapv:UnspecifiedMatching +OMIM:601713 GMFB skos:exactMatch hgnc.symbol:GMFB semapv:UnspecifiedMatching +OMIM:601713 GMFB skos:exactMatch ncbigene:2764 semapv:UnspecifiedMatching +OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:11717 semapv:UnspecifiedMatching +OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:TEAD4 semapv:UnspecifiedMatching +OMIM:601714 TEAD4 skos:exactMatch ncbigene:7004 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch UMLS:C1823131 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:11370 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:STAU1 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch ncbigene:6780 semapv:UnspecifiedMatching +OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:11445 semapv:UnspecifiedMatching +OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:STXBP2 semapv:UnspecifiedMatching +OMIM:601717 STXBP2 skos:exactMatch ncbigene:6813 semapv:UnspecifiedMatching +OMIM:601718 retinitis pigmentosa 19 skos:exactMatch MONDO:0011137 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C1420614 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch UMLS:C5231525 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:11603 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:TBX4 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch ncbigene:9496 semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch UMLS:C1416642 semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch hgnc.symbol:6327 semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch hgnc.symbol:KIN semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch ncbigene:22944 semapv:UnspecifiedMatching +OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:591 semapv:UnspecifiedMatching +OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:BIRC3 semapv:UnspecifiedMatching +OMIM:601721 BIRC3 skos:exactMatch ncbigene:330 semapv:UnspecifiedMatching +OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:4043 semapv:UnspecifiedMatching +OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:FZD5 semapv:UnspecifiedMatching +OMIM:601723 FZD5 skos:exactMatch ncbigene:7855 semapv:UnspecifiedMatching +OMIM:601724 NEUROD1 skos:exactMatch hgnc.symbol:7762 semapv:UnspecifiedMatching +OMIM:601724 NEUROD1 skos:exactMatch hgnc.symbol:NEUROD1 semapv:UnspecifiedMatching +OMIM:601724 NEUROD1 skos:exactMatch ncbigene:4760 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch UMLS:C1417684 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch hgnc.symbol:7763 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch hgnc.symbol:NEUROD2 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch ncbigene:4761 semapv:UnspecifiedMatching +OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:7764 semapv:UnspecifiedMatching +OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:NEUROG1 semapv:UnspecifiedMatching +OMIM:601726 NEUROG1 skos:exactMatch ncbigene:4762 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C0018553 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C0025286 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C0391826 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C0694888 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C1854416 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C1866398 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C2751642 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch UMLS:C4016742 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch hgnc.symbol:9588 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch hgnc.symbol:PTEN semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch ncbigene:5728 semapv:UnspecifiedMatching +OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:11715 semapv:UnspecifiedMatching +OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:TEAD2 semapv:UnspecifiedMatching +OMIM:601729 TEAD2 skos:exactMatch ncbigene:8463 semapv:UnspecifiedMatching +OMIM:601730 PIGC skos:exactMatch hgnc.symbol:8960 semapv:UnspecifiedMatching +OMIM:601730 PIGC skos:exactMatch hgnc.symbol:PIGC semapv:UnspecifiedMatching +OMIM:601730 PIGC skos:exactMatch ncbigene:5279 semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch UMLS:C1412625 semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch UMLS:C4225570 semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch hgnc.symbol:794 semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch hgnc.symbol:ATIC semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch ncbigene:471 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch UMLS:C1335845 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:11104 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:SMARCC1 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch ncbigene:6599 semapv:UnspecifiedMatching +OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:7063 semapv:UnspecifiedMatching +OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:MGST2 semapv:UnspecifiedMatching +OMIM:601733 MGST2 skos:exactMatch ncbigene:4258 semapv:UnspecifiedMatching +OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:11105 semapv:UnspecifiedMatching +OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:SMARCC2 semapv:UnspecifiedMatching +OMIM:601734 SMARCC2 skos:exactMatch ncbigene:6601 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch UMLS:C1335847 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:11106 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:SMARCD1 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch ncbigene:6602 semapv:UnspecifiedMatching +OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:11107 semapv:UnspecifiedMatching +OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:SMARCD2 semapv:UnspecifiedMatching +OMIM:601736 SMARCD2 skos:exactMatch ncbigene:6603 semapv:UnspecifiedMatching +OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:11108 semapv:UnspecifiedMatching +OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:SMARCD3 semapv:UnspecifiedMatching +OMIM:601737 SMARCD3 skos:exactMatch ncbigene:6604 semapv:UnspecifiedMatching +OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:3515 semapv:UnspecifiedMatching +OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:EXTL1 semapv:UnspecifiedMatching +OMIM:601738 EXTL1 skos:exactMatch ncbigene:2134 semapv:UnspecifiedMatching +OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:7000 semapv:UnspecifiedMatching +OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:MEIS1 semapv:UnspecifiedMatching +OMIM:601739 MEIS1 skos:exactMatch ncbigene:4211 semapv:UnspecifiedMatching +OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:7001 semapv:UnspecifiedMatching +OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:MEIS2 semapv:UnspecifiedMatching +OMIM:601740 MEIS2 skos:exactMatch ncbigene:4212 semapv:UnspecifiedMatching +OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:2556 semapv:UnspecifiedMatching +OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:CUL5 semapv:UnspecifiedMatching +OMIM:601741 CUL5 skos:exactMatch ncbigene:8065 semapv:UnspecifiedMatching +OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:16384 semapv:UnspecifiedMatching +OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:TRIM28 semapv:UnspecifiedMatching +OMIM:601742 TRIM28 skos:exactMatch ncbigene:10155 semapv:UnspecifiedMatching +OMIM:601743 OSMR skos:exactMatch hgnc.symbol:8507 semapv:UnspecifiedMatching +OMIM:601743 OSMR skos:exactMatch hgnc.symbol:OSMR semapv:UnspecifiedMatching +OMIM:601743 OSMR skos:exactMatch ncbigene:9180 semapv:UnspecifiedMatching +OMIM:601744 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch MONDO:0011138 semapv:UnspecifiedMatching +OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:6272 semapv:UnspecifiedMatching +OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:KCNK1 semapv:UnspecifiedMatching +OMIM:601745 KCNK1 skos:exactMatch ncbigene:3775 semapv:UnspecifiedMatching +OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:16931 semapv:UnspecifiedMatching +OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:HYOU1 semapv:UnspecifiedMatching +OMIM:601746 HYOU1 skos:exactMatch ncbigene:10525 semapv:UnspecifiedMatching +OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:660 semapv:UnspecifiedMatching +OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:TRIM23 semapv:UnspecifiedMatching +OMIM:601747 TRIM23 skos:exactMatch ncbigene:373 semapv:UnspecifiedMatching +OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:4656 semapv:UnspecifiedMatching +OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:GTF2H2 semapv:UnspecifiedMatching +OMIM:601748 GTF2H2 skos:exactMatch ncbigene:2966 semapv:UnspecifiedMatching +OMIM:601749 GLMN skos:exactMatch hgnc.symbol:14373 semapv:UnspecifiedMatching +OMIM:601749 GLMN skos:exactMatch hgnc.symbol:GLMN semapv:UnspecifiedMatching +OMIM:601749 GLMN skos:exactMatch ncbigene:11146 semapv:UnspecifiedMatching +OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:4657 semapv:UnspecifiedMatching +OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:GTF2H3 semapv:UnspecifiedMatching +OMIM:601750 GTF2H3 skos:exactMatch ncbigene:2967 semapv:UnspecifiedMatching +OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:4479 semapv:UnspecifiedMatching +OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:MCHR1 semapv:UnspecifiedMatching +OMIM:601751 MCHR1 skos:exactMatch ncbigene:2847 semapv:UnspecifiedMatching +OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:3363 semapv:UnspecifiedMatching +OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:ENTPD1 semapv:UnspecifiedMatching +OMIM:601752 ENTPD1 skos:exactMatch ncbigene:953 semapv:UnspecifiedMatching +OMIM:601753 PPID skos:exactMatch hgnc.symbol:9257 semapv:UnspecifiedMatching +OMIM:601753 PPID skos:exactMatch hgnc.symbol:PPID semapv:UnspecifiedMatching +OMIM:601753 PPID skos:exactMatch ncbigene:5481 semapv:UnspecifiedMatching +OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:12520 semapv:UnspecifiedMatching +OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:UFD1 semapv:UnspecifiedMatching +OMIM:601754 UFD1L skos:exactMatch ncbigene:7353 semapv:UnspecifiedMatching +OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:16817 semapv:UnspecifiedMatching +OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:ESS2 semapv:UnspecifiedMatching +OMIM:601755 ESS2 skos:exactMatch ncbigene:8220 semapv:UnspecifiedMatching +OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:4125 semapv:UnspecifiedMatching +OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:GALNT3 semapv:UnspecifiedMatching +OMIM:601756 GALNT3 skos:exactMatch ncbigene:2591 semapv:UnspecifiedMatching +OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:8860 semapv:UnspecifiedMatching +OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:PEX7 semapv:UnspecifiedMatching +OMIM:601757 PEX7 skos:exactMatch ncbigene:5191 semapv:UnspecifiedMatching +OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:8854 semapv:UnspecifiedMatching +OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:PEX12 semapv:UnspecifiedMatching +OMIM:601758 PEX12 skos:exactMatch ncbigene:5193 semapv:UnspecifiedMatching +OMIM:601759 preaxial hallucal polydactyly skos:exactMatch MONDO:0011139 semapv:UnspecifiedMatching +OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:4658 semapv:UnspecifiedMatching +OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:GTF2H4 semapv:UnspecifiedMatching +OMIM:601760 GTF2H4 skos:exactMatch ncbigene:2968 semapv:UnspecifiedMatching +OMIM:601761 CASP7 skos:exactMatch hgnc.symbol:1508 semapv:UnspecifiedMatching +OMIM:601761 CASP7 skos:exactMatch hgnc.symbol:CASP7 semapv:UnspecifiedMatching +OMIM:601761 CASP7 skos:exactMatch ncbigene:840 semapv:UnspecifiedMatching +OMIM:601762 CASP10 skos:exactMatch hgnc.symbol:1500 semapv:UnspecifiedMatching +OMIM:601762 CASP10 skos:exactMatch hgnc.symbol:CASP10 semapv:UnspecifiedMatching +OMIM:601762 CASP10 skos:exactMatch ncbigene:843 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C1332667 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C1846545 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C1968897 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch UMLS:C4016759 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:1509 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:CASP8 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch ncbigene:841 semapv:UnspecifiedMatching +OMIM:601764 seizures, benign familial infantile, 1 skos:exactMatch MONDO:0042499 semapv:UnspecifiedMatching +OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:4047 semapv:UnspecifiedMatching +OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:FZD9 semapv:UnspecifiedMatching +OMIM:601766 FZD9 skos:exactMatch ncbigene:8326 semapv:UnspecifiedMatching +OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:4913 semapv:UnspecifiedMatching +OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:HIP1 semapv:UnspecifiedMatching +OMIM:601767 HIP1 skos:exactMatch ncbigene:3092 semapv:UnspecifiedMatching +OMIM:601768 SH3GL1 skos:exactMatch hgnc.symbol:10830 semapv:UnspecifiedMatching +OMIM:601768 SH3GL1 skos:exactMatch hgnc.symbol:SH3GL1 semapv:UnspecifiedMatching +OMIM:601768 SH3GL1 skos:exactMatch ncbigene:6455 semapv:UnspecifiedMatching +OMIM:601769 VDR skos:exactMatch hgnc.symbol:12679 semapv:UnspecifiedMatching +OMIM:601769 VDR skos:exactMatch hgnc.symbol:VDR semapv:UnspecifiedMatching +OMIM:601769 VDR skos:exactMatch ncbigene:7421 semapv:UnspecifiedMatching +OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:7959 semapv:UnspecifiedMatching +OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:NPY6R semapv:UnspecifiedMatching +OMIM:601770 NPY6R skos:exactMatch ncbigene:4888 semapv:UnspecifiedMatching +OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:2597 semapv:UnspecifiedMatching +OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:CYP1B1 semapv:UnspecifiedMatching +OMIM:601771 CYP1B1 skos:exactMatch ncbigene:1545 semapv:UnspecifiedMatching +OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:4739 semapv:UnspecifiedMatching +OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:H2AX semapv:UnspecifiedMatching +OMIM:601772 H2AFX skos:exactMatch ncbigene:3014 semapv:UnspecifiedMatching +OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:9676 semapv:UnspecifiedMatching +OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:PTPRN semapv:UnspecifiedMatching +OMIM:601773 PTPRN skos:exactMatch ncbigene:5798 semapv:UnspecifiedMatching +OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:7049 semapv:UnspecifiedMatching +OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:MGAT5 semapv:UnspecifiedMatching +OMIM:601774 MGAT5 skos:exactMatch ncbigene:4249 semapv:UnspecifiedMatching +OMIM:601775 megaloblastic anemia, folate-responsive skos:exactMatch MONDO:0011141 semapv:UnspecifiedMatching +OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 skos:exactMatch MONDO:0020681 semapv:UnspecifiedMatching +OMIM:601777 cone-rod dystrophy 6 skos:exactMatch MONDO:0011143 semapv:UnspecifiedMatching +OMIM:601778 POLRMT skos:exactMatch hgnc.symbol:9200 semapv:UnspecifiedMatching +OMIM:601778 POLRMT skos:exactMatch hgnc.symbol:POLRMT semapv:UnspecifiedMatching +OMIM:601778 POLRMT skos:exactMatch ncbigene:5442 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch MONDO:0011144 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:228363 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching +OMIM:601782 TESK1 skos:exactMatch hgnc.symbol:11731 semapv:UnspecifiedMatching +OMIM:601782 TESK1 skos:exactMatch hgnc.symbol:TESK1 semapv:UnspecifiedMatching +OMIM:601782 TESK1 skos:exactMatch ncbigene:7016 semapv:UnspecifiedMatching +OMIM:601783 MAP6 skos:exactMatch hgnc.symbol:6868 semapv:UnspecifiedMatching +OMIM:601783 MAP6 skos:exactMatch hgnc.symbol:MAP6 semapv:UnspecifiedMatching +OMIM:601783 MAP6 skos:exactMatch ncbigene:4135 semapv:UnspecifiedMatching +OMIM:601784 ASIC2 skos:exactMatch hgnc.symbol:99 semapv:UnspecifiedMatching +OMIM:601784 ASIC2 skos:exactMatch hgnc.symbol:ASIC2 semapv:UnspecifiedMatching +OMIM:601784 ASIC2 skos:exactMatch ncbigene:40 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch UMLS:C1418674 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:9115 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:PMM2 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch ncbigene:5373 semapv:UnspecifiedMatching +OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:9114 semapv:UnspecifiedMatching +OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:PMM1 semapv:UnspecifiedMatching +OMIM:601786 PMM1 skos:exactMatch ncbigene:5372 semapv:UnspecifiedMatching +OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:11539 semapv:UnspecifiedMatching +OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:TAF5 semapv:UnspecifiedMatching +OMIM:601787 TAF5 skos:exactMatch ncbigene:6877 semapv:UnspecifiedMatching +OMIM:601788 MSTN skos:exactMatch hgnc.symbol:4223 semapv:UnspecifiedMatching +OMIM:601788 MSTN skos:exactMatch hgnc.symbol:MSTN semapv:UnspecifiedMatching +OMIM:601788 MSTN skos:exactMatch ncbigene:2660 semapv:UnspecifiedMatching +OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:8855 semapv:UnspecifiedMatching +OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:PEX13 semapv:UnspecifiedMatching +OMIM:601789 PEX13 skos:exactMatch ncbigene:5194 semapv:UnspecifiedMatching +OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:9329 semapv:UnspecifiedMatching +OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:NPY4R semapv:UnspecifiedMatching +OMIM:601790 PPYR1 skos:exactMatch ncbigene:5540 semapv:UnspecifiedMatching +OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:8856 semapv:UnspecifiedMatching +OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:PEX14 semapv:UnspecifiedMatching +OMIM:601791 PEX14 skos:exactMatch ncbigene:5195 semapv:UnspecifiedMatching +OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:9288 semapv:UnspecifiedMatching +OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:PPP1R2 semapv:UnspecifiedMatching +OMIM:601792 PPP1R2 skos:exactMatch ncbigene:5504 semapv:UnspecifiedMatching +OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome skos:exactMatch MONDO:0011145 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch UMLS:C1366765 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:6877 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:MAPK3 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch ncbigene:5595 semapv:UnspecifiedMatching +OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:11537 semapv:UnspecifiedMatching +OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:TAF4 semapv:UnspecifiedMatching +OMIM:601796 TAF4 skos:exactMatch ncbigene:6874 semapv:UnspecifiedMatching +OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:356 semapv:UnspecifiedMatching +OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:CRYBG1 semapv:UnspecifiedMatching +OMIM:601797 CRYBG1 skos:exactMatch ncbigene:202 semapv:UnspecifiedMatching +OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:4417 semapv:UnspecifiedMatching +OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:GNPDA1 semapv:UnspecifiedMatching +OMIM:601798 GNPDA1 skos:exactMatch ncbigene:10007 semapv:UnspecifiedMatching +OMIM:601799 PI9 skos:exactMatch hgnc.symbol:8955 semapv:UnspecifiedMatching +OMIM:601799 PI9 skos:exactMatch hgnc.symbol:SERPINB9 semapv:UnspecifiedMatching +OMIM:601799 PI9 skos:exactMatch ncbigene:5272 semapv:UnspecifiedMatching +OMIM:601801 SP2 skos:exactMatch hgnc.symbol:11207 semapv:UnspecifiedMatching +OMIM:601801 SP2 skos:exactMatch hgnc.symbol:SP2 semapv:UnspecifiedMatching +OMIM:601801 SP2 skos:exactMatch ncbigene:6668 semapv:UnspecifiedMatching +OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:4877 semapv:UnspecifiedMatching +OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:HESX1 semapv:UnspecifiedMatching +OMIM:601802 HESX1 skos:exactMatch ncbigene:8820 semapv:UnspecifiedMatching +OMIM:601803 pallister-killian syndrome skos:exactMatch MONDO:0011146 semapv:UnspecifiedMatching +OMIM:601804 SP3 skos:exactMatch hgnc.symbol:11208 semapv:UnspecifiedMatching +OMIM:601804 SP3 skos:exactMatch hgnc.symbol:SP3 semapv:UnspecifiedMatching +OMIM:601804 SP3 skos:exactMatch ncbigene:6670 semapv:UnspecifiedMatching +OMIM:601805 GPER1 skos:exactMatch hgnc.symbol:4485 semapv:UnspecifiedMatching +OMIM:601805 GPER1 skos:exactMatch hgnc.symbol:GPER1 semapv:UnspecifiedMatching +OMIM:601805 GPER1 skos:exactMatch ncbigene:2852 semapv:UnspecifiedMatching +OMIM:601806 MCM6 skos:exactMatch hgnc.symbol:6949 semapv:UnspecifiedMatching +OMIM:601806 MCM6 skos:exactMatch hgnc.symbol:MCM6 semapv:UnspecifiedMatching +OMIM:601806 MCM6 skos:exactMatch ncbigene:4175 semapv:UnspecifiedMatching +OMIM:601807 MMP19 skos:exactMatch hgnc.symbol:7165 semapv:UnspecifiedMatching +OMIM:601807 MMP19 skos:exactMatch hgnc.symbol:MMP19 semapv:UnspecifiedMatching +OMIM:601807 MMP19 skos:exactMatch ncbigene:4327 semapv:UnspecifiedMatching +OMIM:601808 chromosome 18q deletion syndrome skos:exactMatch MONDO:0011147 semapv:UnspecifiedMatching +OMIM:601809 spondylospinal thoracic dysostosis skos:exactMatch MONDO:0011148 semapv:UnspecifiedMatching +OMIM:601810 DNA2 skos:exactMatch hgnc.symbol:2939 semapv:UnspecifiedMatching +OMIM:601810 DNA2 skos:exactMatch hgnc.symbol:DNA2 semapv:UnspecifiedMatching +OMIM:601810 DNA2 skos:exactMatch ncbigene:1763 semapv:UnspecifiedMatching +OMIM:601811 premature aging syndrome, okamoto iia skos:exactMatch MONDO:0011149 semapv:UnspecifiedMatching +OMIM:601812 premature aging syndrome, penttinen iia skos:exactMatch MONDO:0011150 semapv:UnspecifiedMatching +OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch MONDO:0011151 semapv:UnspecifiedMatching +OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch Orphanet:891 semapv:UnspecifiedMatching +OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch UMLS:C1866176 semapv:UnspecifiedMatching +OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:4026 semapv:UnspecifiedMatching +OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:FXYD2 semapv:UnspecifiedMatching +OMIM:601814 FXYD2 skos:exactMatch ncbigene:486 semapv:UnspecifiedMatching +OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch MONDO:0011152 semapv:UnspecifiedMatching +OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch Orphanet:79351 semapv:UnspecifiedMatching +OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching +OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch MONDO:0044270 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch UMLS:C1417742 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch hgnc.symbol:7851 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch hgnc.symbol:NME3 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch ncbigene:4832 semapv:UnspecifiedMatching +OMIM:601818 NME4 skos:exactMatch hgnc.symbol:7852 semapv:UnspecifiedMatching +OMIM:601818 NME4 skos:exactMatch hgnc.symbol:NME4 semapv:UnspecifiedMatching +OMIM:601818 NME4 skos:exactMatch ncbigene:4833 semapv:UnspecifiedMatching +OMIM:601819 BPTF skos:exactMatch hgnc.symbol:3581 semapv:UnspecifiedMatching +OMIM:601819 BPTF skos:exactMatch hgnc.symbol:BPTF semapv:UnspecifiedMatching +OMIM:601819 BPTF skos:exactMatch ncbigene:2186 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch MONDO:0011153 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276580 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:79644 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C0027773 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C3888018 semapv:UnspecifiedMatching +OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:10242 semapv:UnspecifiedMatching +OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:RNY1 semapv:UnspecifiedMatching +OMIM:601821 RNY1 skos:exactMatch ncbigene:6084 semapv:UnspecifiedMatching +OMIM:601822 RNY3 skos:exactMatch UMLS:C1419590 semapv:UnspecifiedMatching +OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:10243 semapv:UnspecifiedMatching +OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:RNY3 semapv:UnspecifiedMatching +OMIM:601822 RNY3 skos:exactMatch ncbigene:6085 semapv:UnspecifiedMatching +OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:10244 semapv:UnspecifiedMatching +OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:RNY4 semapv:UnspecifiedMatching +OMIM:601823 RNY4 skos:exactMatch ncbigene:6086 semapv:UnspecifiedMatching +OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:10248 semapv:UnspecifiedMatching +OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:RNY5 semapv:UnspecifiedMatching +OMIM:601824 RNY5 skos:exactMatch ncbigene:6090 semapv:UnspecifiedMatching +OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:7714 semapv:UnspecifiedMatching +OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:NDUFS7 semapv:UnspecifiedMatching +OMIM:601825 NDUFS7 skos:exactMatch ncbigene:374291 semapv:UnspecifiedMatching +OMIM:601826 DGKD skos:exactMatch hgnc.symbol:2851 semapv:UnspecifiedMatching +OMIM:601826 DGKD skos:exactMatch hgnc.symbol:DGKD semapv:UnspecifiedMatching +OMIM:601826 DGKD skos:exactMatch ncbigene:8527 semapv:UnspecifiedMatching +OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:7981 semapv:UnspecifiedMatching +OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:NR4A2 semapv:UnspecifiedMatching +OMIM:601828 NR4A2 skos:exactMatch ncbigene:4929 semapv:UnspecifiedMatching +OMIM:601829 acrofacial dysostosis, palagonia iia skos:exactMatch MONDO:0011154 semapv:UnspecifiedMatching +OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:4760 semapv:UnspecifiedMatching +OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:H2BC21 semapv:UnspecifiedMatching +OMIM:601831 HIST2H2BE skos:exactMatch ncbigene:8349 semapv:UnspecifiedMatching +OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:10331 semapv:UnspecifiedMatching +OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:RPL29 semapv:UnspecifiedMatching +OMIM:601832 RPL29 skos:exactMatch ncbigene:6159 semapv:UnspecifiedMatching +OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:352 semapv:UnspecifiedMatching +OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:AIF1 semapv:UnspecifiedMatching +OMIM:601833 AIF1 skos:exactMatch ncbigene:199 semapv:UnspecifiedMatching +OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:1609 semapv:UnspecifiedMatching +OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:CCR8 semapv:UnspecifiedMatching +OMIM:601834 CCR8 skos:exactMatch ncbigene:1237 semapv:UnspecifiedMatching +OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:1607 semapv:UnspecifiedMatching +OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:CCR6 semapv:UnspecifiedMatching +OMIM:601835 CCR6 skos:exactMatch ncbigene:1235 semapv:UnspecifiedMatching +OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:17060 semapv:UnspecifiedMatching +OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:KIFAP3 semapv:UnspecifiedMatching +OMIM:601836 KIFAP3 skos:exactMatch ncbigene:22920 semapv:UnspecifiedMatching +OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:6601 semapv:UnspecifiedMatching +OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:LIG4 semapv:UnspecifiedMatching +OMIM:601837 LIG4 skos:exactMatch ncbigene:3981 semapv:UnspecifiedMatching +OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:6177 semapv:UnspecifiedMatching +OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:ITPK1 semapv:UnspecifiedMatching +OMIM:601838 ITPK1 skos:exactMatch ncbigene:3705 semapv:UnspecifiedMatching +OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:3394 semapv:UnspecifiedMatching +OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:EPHB3 semapv:UnspecifiedMatching +OMIM:601839 EPHB3 skos:exactMatch ncbigene:2049 semapv:UnspecifiedMatching +OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:8723 semapv:UnspecifiedMatching +OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:SERPINA5 semapv:UnspecifiedMatching +OMIM:601841 SERPINA5 skos:exactMatch ncbigene:5104 semapv:UnspecifiedMatching +OMIM:601843 SLC5A5 skos:exactMatch hgnc.symbol:11040 semapv:UnspecifiedMatching +OMIM:601843 SLC5A5 skos:exactMatch hgnc.symbol:SLC5A5 semapv:UnspecifiedMatching +OMIM:601843 SLC5A5 skos:exactMatch ncbigene:6528 semapv:UnspecifiedMatching +OMIM:601844 WNK4 skos:exactMatch hgnc.symbol:14544 semapv:UnspecifiedMatching +OMIM:601844 WNK4 skos:exactMatch hgnc.symbol:WNK4 semapv:UnspecifiedMatching +OMIM:601844 WNK4 skos:exactMatch ncbigene:65266 semapv:UnspecifiedMatching +OMIM:601845 GSC2 skos:exactMatch hgnc.symbol:4613 semapv:UnspecifiedMatching +OMIM:601845 GSC2 skos:exactMatch hgnc.symbol:GSC2 semapv:UnspecifiedMatching +OMIM:601845 GSC2 skos:exactMatch ncbigene:2928 semapv:UnspecifiedMatching +OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant skos:exactMatch MONDO:0011155 semapv:UnspecifiedMatching +OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant skos:exactMatch UMLS:C1866139 semapv:UnspecifiedMatching +OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch MONDO:0011156 semapv:UnspecifiedMatching +OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:172 semapv:UnspecifiedMatching +OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:79304 semapv:UnspecifiedMatching +OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch UMLS:C3489789 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch UMLS:C1427202 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:20947 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:TOMM20 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch ncbigene:9804 semapv:UnspecifiedMatching +OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:2082 semapv:UnspecifiedMatching +OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:CLOCK semapv:UnspecifiedMatching +OMIM:601851 CLOCK skos:exactMatch ncbigene:9575 semapv:UnspecifiedMatching +OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:5348 semapv:UnspecifiedMatching +OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:ICAM5 semapv:UnspecifiedMatching +OMIM:601852 ICAM5 skos:exactMatch ncbigene:7087 semapv:UnspecifiedMatching +OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch MONDO:0011157 semapv:UnspecifiedMatching +OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch Orphanet:1532 semapv:UnspecifiedMatching +OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch UMLS:C0795959 semapv:UnspecifiedMatching +OMIM:601854 DGKG skos:exactMatch hgnc.symbol:2853 semapv:UnspecifiedMatching +OMIM:601854 DGKG skos:exactMatch hgnc.symbol:DGKG semapv:UnspecifiedMatching +OMIM:601854 DGKG skos:exactMatch ncbigene:1608 semapv:UnspecifiedMatching +OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:681 semapv:UnspecifiedMatching +OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:ARHGEF1 semapv:UnspecifiedMatching +OMIM:601855 ARHGEF1 skos:exactMatch ncbigene:9138 semapv:UnspecifiedMatching +OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:13003 semapv:UnspecifiedMatching +OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:ZNF211 semapv:UnspecifiedMatching +OMIM:601856 ZNF211 skos:exactMatch ncbigene:10520 semapv:UnspecifiedMatching +OMIM:601858 CLGN skos:exactMatch hgnc.symbol:2060 semapv:UnspecifiedMatching +OMIM:601858 CLGN skos:exactMatch hgnc.symbol:CLGN semapv:UnspecifiedMatching +OMIM:601858 CLGN skos:exactMatch ncbigene:1047 semapv:UnspecifiedMatching +OMIM:601859 autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0011158 semapv:UnspecifiedMatching +OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:5213 semapv:UnspecifiedMatching +OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:HSD17B4 semapv:UnspecifiedMatching +OMIM:601860 HSD17B4 skos:exactMatch ncbigene:3295 semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch UMLS:C1419365 semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch UMLS:C1859537 semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:9988 semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:RFXAP semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch ncbigene:5994 semapv:UnspecifiedMatching +OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:9986 semapv:UnspecifiedMatching +OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:RFX5 semapv:UnspecifiedMatching +OMIM:601863 RFX5 skos:exactMatch ncbigene:5993 semapv:UnspecifiedMatching +OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:9082 semapv:UnspecifiedMatching +OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:PLOD2 semapv:UnspecifiedMatching +OMIM:601865 PLOD2 skos:exactMatch ncbigene:5352 semapv:UnspecifiedMatching +OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:10732 semapv:UnspecifiedMatching +OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:SEMA4D semapv:UnspecifiedMatching +OMIM:601866 SEMA4D skos:exactMatch ncbigene:10507 semapv:UnspecifiedMatching +OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:806 semapv:UnspecifiedMatching +OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:ATP1B3 semapv:UnspecifiedMatching +OMIM:601867 ATP1B3 skos:exactMatch ncbigene:483 semapv:UnspecifiedMatching +OMIM:601868 deafness, autosomal dominant 13 skos:exactMatch MONDO:0011159 semapv:UnspecifiedMatching +OMIM:601869 deafness, autosomal recessive 15 skos:exactMatch MONDO:0011160 semapv:UnspecifiedMatching +OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:16672 semapv:UnspecifiedMatching +OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:METAP2 semapv:UnspecifiedMatching +OMIM:601870 METAP2 skos:exactMatch ncbigene:10988 semapv:UnspecifiedMatching +OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:2470 semapv:UnspecifiedMatching +OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:CSRP2 semapv:UnspecifiedMatching +OMIM:601871 CSRP2 skos:exactMatch ncbigene:1466 semapv:UnspecifiedMatching +OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:11060 semapv:UnspecifiedMatching +OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:SLC7A2 semapv:UnspecifiedMatching +OMIM:601872 SLC7A2 skos:exactMatch ncbigene:6542 semapv:UnspecifiedMatching +OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:4117 semapv:UnspecifiedMatching +OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:B4GALNT1 semapv:UnspecifiedMatching +OMIM:601873 B4GALNT1 skos:exactMatch ncbigene:2583 semapv:UnspecifiedMatching +OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:17064 semapv:UnspecifiedMatching +OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:ELL2 semapv:UnspecifiedMatching +OMIM:601874 ELL2 skos:exactMatch ncbigene:22936 semapv:UnspecifiedMatching +OMIM:601876 sperm-specific antigen 1 skos:exactMatch MONDO:0011161 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch UMLS:C1537561 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:3122 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:LEFTY2 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch ncbigene:7044 semapv:UnspecifiedMatching +OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:11810 semapv:UnspecifiedMatching +OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:KLF10 semapv:UnspecifiedMatching +OMIM:601878 KLF10 skos:exactMatch ncbigene:7071 semapv:UnspecifiedMatching +OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:6570 semapv:UnspecifiedMatching +OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:LGALS9 semapv:UnspecifiedMatching +OMIM:601879 LGALS9 skos:exactMatch ncbigene:3965 semapv:UnspecifiedMatching +OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:10647 semapv:UnspecifiedMatching +OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:CX3CL1 semapv:UnspecifiedMatching +OMIM:601880 CX3CL1 skos:exactMatch ncbigene:6376 semapv:UnspecifiedMatching +OMIM:601881 RAX skos:exactMatch hgnc.symbol:18662 semapv:UnspecifiedMatching +OMIM:601881 RAX skos:exactMatch hgnc.symbol:RAX semapv:UnspecifiedMatching +OMIM:601881 RAX skos:exactMatch ncbigene:30062 semapv:UnspecifiedMatching +OMIM:601882 DFFA skos:exactMatch hgnc.symbol:2772 semapv:UnspecifiedMatching +OMIM:601882 DFFA skos:exactMatch hgnc.symbol:DFFA semapv:UnspecifiedMatching +OMIM:601882 DFFA skos:exactMatch ncbigene:1676 semapv:UnspecifiedMatching +OMIM:601883 DFFB skos:exactMatch hgnc.symbol:2773 semapv:UnspecifiedMatching +OMIM:601883 DFFB skos:exactMatch hgnc.symbol:DFFB semapv:UnspecifiedMatching +OMIM:601883 DFFB skos:exactMatch ncbigene:1677 semapv:UnspecifiedMatching +OMIM:601884 bone mineral density quantitative trait locus 1 skos:exactMatch MONDO:0044271 semapv:UnspecifiedMatching +OMIM:601885 cataract 14, multiple types skos:exactMatch MONDO:0011162 semapv:UnspecifiedMatching +OMIM:601885 cataract 14, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:601885 cataract 14, multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching +OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:739 semapv:UnspecifiedMatching +OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:ASCL2 semapv:UnspecifiedMatching +OMIM:601886 ASCL2 skos:exactMatch ncbigene:430 semapv:UnspecifiedMatching +OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch MONDO:0011163 semapv:UnspecifiedMatching +OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching +OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch UMLS:C1866077 semapv:UnspecifiedMatching +OMIM:601888 malignant hyperthermia, susceptibility to, 6 skos:exactMatch MONDO:0011164 semapv:UnspecifiedMatching +OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:1007 semapv:UnspecifiedMatching +OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:NBEAP1 semapv:UnspecifiedMatching +OMIM:601889 NBEAP1 skos:exactMatch ncbigene:606 semapv:UnspecifiedMatching +OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:9618 semapv:UnspecifiedMatching +OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:PTK7 semapv:UnspecifiedMatching +OMIM:601890 PTK7 skos:exactMatch ncbigene:5754 semapv:UnspecifiedMatching +OMIM:601891 CST6 skos:exactMatch hgnc.symbol:2478 semapv:UnspecifiedMatching +OMIM:601891 CST6 skos:exactMatch hgnc.symbol:CST6 semapv:UnspecifiedMatching +OMIM:601891 CST6 skos:exactMatch ncbigene:1474 semapv:UnspecifiedMatching +OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:6396 semapv:UnspecifiedMatching +OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:KPNA3 semapv:UnspecifiedMatching +OMIM:601892 KPNA3 skos:exactMatch ncbigene:3839 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch UMLS:C1336674 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch hgnc.symbol:12303 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch hgnc.symbol:TRIO semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch ncbigene:7204 semapv:UnspecifiedMatching +OMIM:601894 glomerulopathy with fibronectin deposits 2 skos:exactMatch MONDO:0011165 semapv:UnspecifiedMatching +OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:12032 semapv:UnspecifiedMatching +OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:TRAF2 semapv:UnspecifiedMatching +OMIM:601895 TRAF2 skos:exactMatch ncbigene:7186 semapv:UnspecifiedMatching +OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:12033 semapv:UnspecifiedMatching +OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:TRAF3 semapv:UnspecifiedMatching +OMIM:601896 TRAF3 skos:exactMatch ncbigene:7187 semapv:UnspecifiedMatching +OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:12933 semapv:UnspecifiedMatching +OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:ZNF148 semapv:UnspecifiedMatching +OMIM:601897 ZNF148 skos:exactMatch ncbigene:7707 semapv:UnspecifiedMatching +OMIM:601898 GHSR skos:exactMatch hgnc.symbol:4267 semapv:UnspecifiedMatching +OMIM:601898 GHSR skos:exactMatch hgnc.symbol:GHSR semapv:UnspecifiedMatching +OMIM:601898 GHSR skos:exactMatch ncbigene:2693 semapv:UnspecifiedMatching +OMIM:601899 STAM skos:exactMatch hgnc.symbol:11357 semapv:UnspecifiedMatching +OMIM:601899 STAM skos:exactMatch hgnc.symbol:STAM semapv:UnspecifiedMatching +OMIM:601899 STAM skos:exactMatch ncbigene:8027 semapv:UnspecifiedMatching +OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:6119 semapv:UnspecifiedMatching +OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:IRF4 semapv:UnspecifiedMatching +OMIM:601900 IRF4 skos:exactMatch ncbigene:3662 semapv:UnspecifiedMatching +OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:11069 semapv:UnspecifiedMatching +OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:SLC8A2 semapv:UnspecifiedMatching +OMIM:601901 SLC8A2 skos:exactMatch ncbigene:6543 semapv:UnspecifiedMatching +OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:8487 semapv:UnspecifiedMatching +OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:ORC1 semapv:UnspecifiedMatching +OMIM:601902 ORC1 skos:exactMatch ncbigene:4998 semapv:UnspecifiedMatching +OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:12547 semapv:UnspecifiedMatching +OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:UGT2B17 semapv:UnspecifiedMatching +OMIM:601903 UGT2B17 skos:exactMatch ncbigene:7367 semapv:UnspecifiedMatching +OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:9795 semapv:UnspecifiedMatching +OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:RABGGTA semapv:UnspecifiedMatching +OMIM:601905 RABGGTA skos:exactMatch ncbigene:5875 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch UMLS:C1421511 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch UMLS:C4310730 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:12775 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:WNT10B semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch ncbigene:7480 semapv:UnspecifiedMatching +OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:7754 semapv:UnspecifiedMatching +OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:NEO1 semapv:UnspecifiedMatching +OMIM:601907 NEO1 skos:exactMatch ncbigene:4756 semapv:UnspecifiedMatching +OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:4475 semapv:UnspecifiedMatching +OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:GPR20 semapv:UnspecifiedMatching +OMIM:601908 GPR20 skos:exactMatch ncbigene:2843 semapv:UnspecifiedMatching +OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:4476 semapv:UnspecifiedMatching +OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:GPR21 semapv:UnspecifiedMatching +OMIM:601909 GPR21 skos:exactMatch ncbigene:2844 semapv:UnspecifiedMatching +OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:4477 semapv:UnspecifiedMatching +OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:GPR22 semapv:UnspecifiedMatching +OMIM:601910 GPR22 skos:exactMatch ncbigene:2845 semapv:UnspecifiedMatching +OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:2917 semapv:UnspecifiedMatching +OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:DLX4 semapv:UnspecifiedMatching +OMIM:601911 DLX4 skos:exactMatch ncbigene:1748 semapv:UnspecifiedMatching +OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:12502 semapv:UnspecifiedMatching +OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:SUMO1 semapv:UnspecifiedMatching +OMIM:601912 SUMO1 skos:exactMatch ncbigene:7341 semapv:UnspecifiedMatching +OMIM:601913 GET3 skos:exactMatch hgnc.symbol:752 semapv:UnspecifiedMatching +OMIM:601913 GET3 skos:exactMatch hgnc.symbol:GET3 semapv:UnspecifiedMatching +OMIM:601913 GET3 skos:exactMatch ncbigene:439 semapv:UnspecifiedMatching +OMIM:601914 PRELP skos:exactMatch hgnc.symbol:9357 semapv:UnspecifiedMatching +OMIM:601914 PRELP skos:exactMatch hgnc.symbol:PRELP semapv:UnspecifiedMatching +OMIM:601914 PRELP skos:exactMatch ncbigene:5549 semapv:UnspecifiedMatching +OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:11823 semapv:UnspecifiedMatching +OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:TIMP4 semapv:UnspecifiedMatching +OMIM:601915 TIMP4 skos:exactMatch ncbigene:7079 semapv:UnspecifiedMatching +OMIM:601916 MANF skos:exactMatch hgnc.symbol:15461 semapv:UnspecifiedMatching +OMIM:601916 MANF skos:exactMatch hgnc.symbol:MANF semapv:UnspecifiedMatching +OMIM:601916 MANF skos:exactMatch ncbigene:7873 semapv:UnspecifiedMatching +OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:411 semapv:UnspecifiedMatching +OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:ALDH3B2 semapv:UnspecifiedMatching +OMIM:601917 ALDH3B2 skos:exactMatch ncbigene:222 semapv:UnspecifiedMatching +OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:4224 semapv:UnspecifiedMatching +OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:GDF9 semapv:UnspecifiedMatching +OMIM:601918 GDF9 skos:exactMatch ncbigene:2661 semapv:UnspecifiedMatching +OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:3539 semapv:UnspecifiedMatching +OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:F2RL2 semapv:UnspecifiedMatching +OMIM:601919 F2RL2 skos:exactMatch ncbigene:2151 semapv:UnspecifiedMatching +OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:6188 semapv:UnspecifiedMatching +OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:JAG1 semapv:UnspecifiedMatching +OMIM:601920 JAG1 skos:exactMatch ncbigene:182 semapv:UnspecifiedMatching +OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:485 semapv:UnspecifiedMatching +OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:ANGPT2 semapv:UnspecifiedMatching +OMIM:601922 ANGPT2 skos:exactMatch ncbigene:285 semapv:UnspecifiedMatching +OMIM:601924 COPA skos:exactMatch hgnc.symbol:2230 semapv:UnspecifiedMatching +OMIM:601924 COPA skos:exactMatch hgnc.symbol:COPA semapv:UnspecifiedMatching +OMIM:601924 COPA skos:exactMatch ncbigene:1314 semapv:UnspecifiedMatching +OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:678 semapv:UnspecifiedMatching +OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:ARHGDIA semapv:UnspecifiedMatching +OMIM:601925 ARHGDIA skos:exactMatch ncbigene:396 semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch UMLS:C1420727 semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch hgnc.symbol:11800 semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch hgnc.symbol:THRSP semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch ncbigene:7069 semapv:UnspecifiedMatching +OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch MONDO:0011166 semapv:UnspecifiedMatching +OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching +OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch UMLS:C2677167 semapv:UnspecifiedMatching +OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:6463 semapv:UnspecifiedMatching +OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:KRT86 semapv:UnspecifiedMatching +OMIM:601928 KRT86 skos:exactMatch ncbigene:3892 semapv:UnspecifiedMatching +OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:813 semapv:UnspecifiedMatching +OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:ATP2A3 semapv:UnspecifiedMatching +OMIM:601929 ATP2A3 skos:exactMatch ncbigene:489 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch UMLS:C1538957 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:1081 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:BNC1 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch ncbigene:646 semapv:UnspecifiedMatching +OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:995 semapv:UnspecifiedMatching +OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:BCL2L2 semapv:UnspecifiedMatching +OMIM:601931 BCL2L2 skos:exactMatch ncbigene:599 semapv:UnspecifiedMatching +OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:7519 semapv:UnspecifiedMatching +OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:MUC8 semapv:UnspecifiedMatching +OMIM:601932 MUC8 skos:exactMatch ncbigene:100129528 semapv:UnspecifiedMatching +OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:2384 semapv:UnspecifiedMatching +OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:CRY1 semapv:UnspecifiedMatching +OMIM:601933 CRY1 skos:exactMatch ncbigene:1407 semapv:UnspecifiedMatching +OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:4549 semapv:UnspecifiedMatching +OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:GPS1 semapv:UnspecifiedMatching +OMIM:601934 GPS1 skos:exactMatch ncbigene:2873 semapv:UnspecifiedMatching +OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:4550 semapv:UnspecifiedMatching +OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:GPS2 semapv:UnspecifiedMatching +OMIM:601935 GPS2 skos:exactMatch ncbigene:2874 semapv:UnspecifiedMatching +OMIM:601936 PAWR skos:exactMatch hgnc.symbol:8614 semapv:UnspecifiedMatching +OMIM:601936 PAWR skos:exactMatch hgnc.symbol:PAWR semapv:UnspecifiedMatching +OMIM:601936 PAWR skos:exactMatch ncbigene:5074 semapv:UnspecifiedMatching +OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:7670 semapv:UnspecifiedMatching +OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:NCOA3 semapv:UnspecifiedMatching +OMIM:601937 NCOA3 skos:exactMatch ncbigene:8202 semapv:UnspecifiedMatching +OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:11305 semapv:UnspecifiedMatching +OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:SRPK1 semapv:UnspecifiedMatching +OMIM:601939 SRPK1 skos:exactMatch ncbigene:6732 semapv:UnspecifiedMatching +OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:10786 semapv:UnspecifiedMatching +OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:SRSF4 semapv:UnspecifiedMatching +OMIM:601940 SRSF4 skos:exactMatch ncbigene:6429 semapv:UnspecifiedMatching +OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch MONDO:0011167 semapv:UnspecifiedMatching +OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching +OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching +OMIM:601942 iia 1 diabetes mellitus 10 skos:exactMatch MONDO:0011168 semapv:UnspecifiedMatching +OMIM:601942 iia 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching +OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:10791 semapv:UnspecifiedMatching +OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:SRSF9 semapv:UnspecifiedMatching +OMIM:601943 SRSF9 skos:exactMatch ncbigene:8683 semapv:UnspecifiedMatching +OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:10788 semapv:UnspecifiedMatching +OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:SRSF6 semapv:UnspecifiedMatching +OMIM:601944 SRSF6 skos:exactMatch ncbigene:6431 semapv:UnspecifiedMatching +OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:10790 semapv:UnspecifiedMatching +OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:SFSWAP semapv:UnspecifiedMatching +OMIM:601945 SFSWAP skos:exactMatch ncbigene:6433 semapv:UnspecifiedMatching +OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:11198 semapv:UnspecifiedMatching +OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:SOX12 semapv:UnspecifiedMatching +OMIM:601947 SOX12 skos:exactMatch ncbigene:6666 semapv:UnspecifiedMatching +OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:1404 semapv:UnspecifiedMatching +OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:CACNB4 semapv:UnspecifiedMatching +OMIM:601949 CACNB4 skos:exactMatch ncbigene:785 semapv:UnspecifiedMatching +OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:19762 semapv:UnspecifiedMatching +OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:ZFPM1 semapv:UnspecifiedMatching +OMIM:601950 ZFPM1 skos:exactMatch ncbigene:161882 semapv:UnspecifiedMatching +OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:2068 semapv:UnspecifiedMatching +OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:CLK1 semapv:UnspecifiedMatching +OMIM:601951 CLK1 skos:exactMatch ncbigene:1195 semapv:UnspecifiedMatching +OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma skos:exactMatch MONDO:0011169 semapv:UnspecifiedMatching +OMIM:601953 CCNH skos:exactMatch hgnc.symbol:1594 semapv:UnspecifiedMatching +OMIM:601953 CCNH skos:exactMatch hgnc.symbol:CCNH semapv:UnspecifiedMatching +OMIM:601953 CCNH skos:exactMatch ncbigene:902 semapv:UnspecifiedMatching +OMIM:601954 muscular dystrophy, limb-girdle, autosomal recessive 7 skos:exactMatch MONDO:0011170 semapv:UnspecifiedMatching +OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:1778 semapv:UnspecifiedMatching +OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:CDK7 semapv:UnspecifiedMatching +OMIM:601955 CDK7 skos:exactMatch ncbigene:1022 semapv:UnspecifiedMatching +OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:4244 semapv:UnspecifiedMatching +OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:GFRA2 semapv:UnspecifiedMatching +OMIM:601956 GFRA2 skos:exactMatch ncbigene:2675 semapv:UnspecifiedMatching +OMIM:601957 odontotrichoungual-digital-palmar syndrome skos:exactMatch MONDO:0011171 semapv:UnspecifiedMatching +OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:1403 semapv:UnspecifiedMatching +OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:CACNB3 semapv:UnspecifiedMatching +OMIM:601958 CACNB3 skos:exactMatch ncbigene:784 semapv:UnspecifiedMatching +OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:11399 semapv:UnspecifiedMatching +OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:NEK4 semapv:UnspecifiedMatching +OMIM:601959 NEK4 skos:exactMatch ncbigene:6787 semapv:UnspecifiedMatching +OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:10619 semapv:UnspecifiedMatching +OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:CCL20 semapv:UnspecifiedMatching +OMIM:601960 CCL20 skos:exactMatch ncbigene:6364 semapv:UnspecifiedMatching +OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:5186 semapv:UnspecifiedMatching +OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:PRMT2 semapv:UnspecifiedMatching +OMIM:601961 PRMT2 skos:exactMatch ncbigene:3275 semapv:UnspecifiedMatching +OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:11566 semapv:UnspecifiedMatching +OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:TAPBP semapv:UnspecifiedMatching +OMIM:601962 TAPBP skos:exactMatch ncbigene:6892 semapv:UnspecifiedMatching +OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:12391 semapv:UnspecifiedMatching +OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:TTC1 semapv:UnspecifiedMatching +OMIM:601963 TTC1 skos:exactMatch ncbigene:7265 semapv:UnspecifiedMatching +OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:12392 semapv:UnspecifiedMatching +OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:DNAJC7 semapv:UnspecifiedMatching +OMIM:601964 DNAJC7 skos:exactMatch ncbigene:7266 semapv:UnspecifiedMatching +OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:3167 semapv:UnspecifiedMatching +OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:S1PR3 semapv:UnspecifiedMatching +OMIM:601965 S1PR3 skos:exactMatch ncbigene:1903 semapv:UnspecifiedMatching +OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:10458 semapv:UnspecifiedMatching +OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:RSC1A1 semapv:UnspecifiedMatching +OMIM:601966 RSC1A1 skos:exactMatch ncbigene:6248 semapv:UnspecifiedMatching +OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:12787 semapv:UnspecifiedMatching +OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:WNT7B semapv:UnspecifiedMatching +OMIM:601967 WNT7B skos:exactMatch ncbigene:7477 semapv:UnspecifiedMatching +OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:12781 semapv:UnspecifiedMatching +OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:WNT2B semapv:UnspecifiedMatching +OMIM:601968 WNT2B skos:exactMatch ncbigene:7482 semapv:UnspecifiedMatching +OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:2926 semapv:UnspecifiedMatching +OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:DMBT1 semapv:UnspecifiedMatching +OMIM:601969 DMBT1 skos:exactMatch ncbigene:1755 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch UMLS:C1421452 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:12695 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:VIPR2 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch ncbigene:7434 semapv:UnspecifiedMatching +OMIM:601972 RORB skos:exactMatch hgnc.symbol:10259 semapv:UnspecifiedMatching +OMIM:601972 RORB skos:exactMatch hgnc.symbol:RORB semapv:UnspecifiedMatching +OMIM:601972 RORB skos:exactMatch ncbigene:6096 semapv:UnspecifiedMatching +OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:9868 semapv:UnspecifiedMatching +OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:RARRES2 semapv:UnspecifiedMatching +OMIM:601973 RARRES2 skos:exactMatch ncbigene:5919 semapv:UnspecifiedMatching +OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:3165 semapv:UnspecifiedMatching +OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:S1PR1 semapv:UnspecifiedMatching +OMIM:601974 S1PR1 skos:exactMatch ncbigene:1901 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch UMLS:C1418612 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:9023 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:PKP1 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch ncbigene:5317 semapv:UnspecifiedMatching +OMIM:601976 otofacioosseous-gonadal syndrome skos:exactMatch MONDO:0011172 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch MONDO:0011173 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching +OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:8157 semapv:UnspecifiedMatching +OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:SIGMAR1 semapv:UnspecifiedMatching +OMIM:601978 SIGMAR1 skos:exactMatch ncbigene:10280 semapv:UnspecifiedMatching +OMIM:601979 hyperzincemia with functional zinc depletion skos:exactMatch MONDO:0011174 semapv:UnspecifiedMatching +OMIM:601980 LIPF skos:exactMatch hgnc.symbol:6622 semapv:UnspecifiedMatching +OMIM:601980 LIPF skos:exactMatch hgnc.symbol:LIPF semapv:UnspecifiedMatching +OMIM:601980 LIPF skos:exactMatch ncbigene:8513 semapv:UnspecifiedMatching +OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:10048 semapv:UnspecifiedMatching +OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:RNASE6 semapv:UnspecifiedMatching +OMIM:601981 RNASE6 skos:exactMatch ncbigene:6039 semapv:UnspecifiedMatching +OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:8125 semapv:UnspecifiedMatching +OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:OGG1 semapv:UnspecifiedMatching +OMIM:601982 OGG1 skos:exactMatch ncbigene:4968 semapv:UnspecifiedMatching +OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:6863 semapv:UnspecifiedMatching +OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:MAP4K1 semapv:UnspecifiedMatching +OMIM:601983 MAP4K1 skos:exactMatch ncbigene:11184 semapv:UnspecifiedMatching +OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:7671 semapv:UnspecifiedMatching +OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:NCOA4 semapv:UnspecifiedMatching +OMIM:601984 NCOA4 skos:exactMatch ncbigene:8031 semapv:UnspecifiedMatching +OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:18782 semapv:UnspecifiedMatching +OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:CCDC6 semapv:UnspecifiedMatching +OMIM:601985 CCDC6 skos:exactMatch ncbigene:8030 semapv:UnspecifiedMatching +OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:2329 semapv:UnspecifiedMatching +OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:CPT1B semapv:UnspecifiedMatching +OMIM:601987 CPT1B skos:exactMatch ncbigene:1375 semapv:UnspecifiedMatching +OMIM:601988 LIMK2 skos:exactMatch hgnc.symbol:6614 semapv:UnspecifiedMatching +OMIM:601988 LIMK2 skos:exactMatch hgnc.symbol:LIMK2 semapv:UnspecifiedMatching +OMIM:601988 LIMK2 skos:exactMatch ncbigene:3985 semapv:UnspecifiedMatching +OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:10490 semapv:UnspecifiedMatching +OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:S100A13 semapv:UnspecifiedMatching +OMIM:601989 S100A13 skos:exactMatch ncbigene:6284 semapv:UnspecifiedMatching +OMIM:601990 TP73 skos:exactMatch hgnc.symbol:12003 semapv:UnspecifiedMatching +OMIM:601990 TP73 skos:exactMatch hgnc.symbol:TP73 semapv:UnspecifiedMatching +OMIM:601990 TP73 skos:exactMatch ncbigene:7161 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch UMLS:C1334891 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394569 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394570 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394571 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:7887 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:NOVA2 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch ncbigene:4858 semapv:UnspecifiedMatching +OMIM:601992 friedreich ataxia 2 skos:exactMatch MONDO:0011175 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch UMLS:C1334867 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:7669 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:NCOA2 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch ncbigene:10499 semapv:UnspecifiedMatching +OMIM:601995 TNR skos:exactMatch hgnc.symbol:11953 semapv:UnspecifiedMatching +OMIM:601995 TNR skos:exactMatch hgnc.symbol:TNR semapv:UnspecifiedMatching +OMIM:601995 TNR skos:exactMatch ncbigene:7143 semapv:UnspecifiedMatching +OMIM:601997 BID skos:exactMatch hgnc.symbol:1050 semapv:UnspecifiedMatching +OMIM:601997 BID skos:exactMatch hgnc.symbol:BID semapv:UnspecifiedMatching +OMIM:601997 BID skos:exactMatch ncbigene:637 semapv:UnspecifiedMatching +OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:3471 semapv:UnspecifiedMatching +OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:ESRRA semapv:UnspecifiedMatching +OMIM:601998 ESRRA skos:exactMatch ncbigene:2101 semapv:UnspecifiedMatching +OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:6593 semapv:UnspecifiedMatching +OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:LHX1 semapv:UnspecifiedMatching +OMIM:601999 LHX1 skos:exactMatch ncbigene:3975 semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch UMLS:C1426947 semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:20454 semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:POLR1B semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch ncbigene:84172 semapv:UnspecifiedMatching +OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:7958 semapv:UnspecifiedMatching +OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:NPY5R semapv:UnspecifiedMatching +OMIM:602001 NPY5R skos:exactMatch ncbigene:4889 semapv:UnspecifiedMatching +OMIM:602002 ZYX skos:exactMatch hgnc.symbol:13200 semapv:UnspecifiedMatching +OMIM:602002 ZYX skos:exactMatch hgnc.symbol:ZYX semapv:UnspecifiedMatching +OMIM:602002 ZYX skos:exactMatch ncbigene:7791 semapv:UnspecifiedMatching +OMIM:602003 LRMP skos:exactMatch hgnc.symbol:6690 semapv:UnspecifiedMatching +OMIM:602003 LRMP skos:exactMatch hgnc.symbol:IRAG2 semapv:UnspecifiedMatching +OMIM:602003 LRMP skos:exactMatch ncbigene:4033 semapv:UnspecifiedMatching +OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:9617 semapv:UnspecifiedMatching +OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:PTK6 semapv:UnspecifiedMatching +OMIM:602004 PTK6 skos:exactMatch ncbigene:5753 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch UMLS:C1420312 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:11185 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:SORL1 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch ncbigene:6653 semapv:UnspecifiedMatching +OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:6887 semapv:UnspecifiedMatching +OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:MAPKAPK2 semapv:UnspecifiedMatching +OMIM:602006 MAPKAPK2 skos:exactMatch ncbigene:9261 semapv:UnspecifiedMatching +OMIM:602007 CRKL skos:exactMatch hgnc.symbol:2363 semapv:UnspecifiedMatching +OMIM:602007 CRKL skos:exactMatch hgnc.symbol:CRKL semapv:UnspecifiedMatching +OMIM:602007 CRKL skos:exactMatch ncbigene:1399 semapv:UnspecifiedMatching +OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:6402 semapv:UnspecifiedMatching +OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:IPO5 semapv:UnspecifiedMatching +OMIM:602008 IPO5 skos:exactMatch ncbigene:3843 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch UMLS:C1413648 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:2279 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:COX6A2 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch ncbigene:1339 semapv:UnspecifiedMatching +OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:10782 semapv:UnspecifiedMatching +OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:SRSF11 semapv:UnspecifiedMatching +OMIM:602010 SRSF11 skos:exactMatch ncbigene:9295 semapv:UnspecifiedMatching +OMIM:602011 suppressor of tumorigenicity 11 skos:exactMatch UMLS:C1420440 semapv:UnspecifiedMatching +OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:3364 semapv:UnspecifiedMatching +OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:ENTPD2 semapv:UnspecifiedMatching +OMIM:602012 ENTPD2 skos:exactMatch ncbigene:954 semapv:UnspecifiedMatching +OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:9194 semapv:UnspecifiedMatching +OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:POLR2G semapv:UnspecifiedMatching +OMIM:602013 POLR2G skos:exactMatch ncbigene:5436 semapv:UnspecifiedMatching +OMIM:602014 hypomagnesemia 1, intestinal skos:exactMatch MONDO:0011176 semapv:UnspecifiedMatching +OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:8114 semapv:UnspecifiedMatching +OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:ODF2 semapv:UnspecifiedMatching +OMIM:602015 ODF2 skos:exactMatch ncbigene:4957 semapv:UnspecifiedMatching +OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:6347 semapv:UnspecifiedMatching +OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:KLF2 semapv:UnspecifiedMatching +OMIM:602016 KLF2 skos:exactMatch ncbigene:10365 semapv:UnspecifiedMatching +OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:9537 semapv:UnspecifiedMatching +OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:PSMB1 semapv:UnspecifiedMatching +OMIM:602017 PSMB1 skos:exactMatch ncbigene:5689 semapv:UnspecifiedMatching +OMIM:602018 NRTN skos:exactMatch hgnc.symbol:8007 semapv:UnspecifiedMatching +OMIM:602018 NRTN skos:exactMatch hgnc.symbol:NRTN semapv:UnspecifiedMatching +OMIM:602018 NRTN skos:exactMatch ncbigene:4902 semapv:UnspecifiedMatching +OMIM:602019 SQLE skos:exactMatch hgnc.symbol:11279 semapv:UnspecifiedMatching +OMIM:602019 SQLE skos:exactMatch hgnc.symbol:SQLE semapv:UnspecifiedMatching +OMIM:602019 SQLE skos:exactMatch ncbigene:6713 semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch UMLS:C0812300 semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch hgnc.symbol:6781 semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch hgnc.symbol:MAFG semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch ncbigene:4097 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch UMLS:C1417581 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:7618 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:PPP1R12A semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch ncbigene:4659 semapv:UnspecifiedMatching +OMIM:602022 MALL skos:exactMatch hgnc.symbol:6818 semapv:UnspecifiedMatching +OMIM:602022 MALL skos:exactMatch hgnc.symbol:MALL semapv:UnspecifiedMatching +OMIM:602022 MALL skos:exactMatch ncbigene:7851 semapv:UnspecifiedMatching +OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:2027 semapv:UnspecifiedMatching +OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:CLCNKB semapv:UnspecifiedMatching +OMIM:602023 CLCNKB skos:exactMatch ncbigene:1188 semapv:UnspecifiedMatching +OMIM:602024 CLCNKA skos:exactMatch hgnc.symbol:2026 semapv:UnspecifiedMatching +OMIM:602024 CLCNKA skos:exactMatch hgnc.symbol:CLCNKA semapv:UnspecifiedMatching +OMIM:602024 CLCNKA skos:exactMatch ncbigene:1187 semapv:UnspecifiedMatching +OMIM:602025 body mass index quantitative trait locus 9 skos:exactMatch MONDO:0044272 semapv:UnspecifiedMatching +OMIM:602026 PHYH skos:exactMatch hgnc.symbol:8940 semapv:UnspecifiedMatching +OMIM:602026 PHYH skos:exactMatch hgnc.symbol:PHYH semapv:UnspecifiedMatching +OMIM:602026 PHYH skos:exactMatch ncbigene:5264 semapv:UnspecifiedMatching +OMIM:602027 TERF2 skos:exactMatch UMLS:C1336605 semapv:UnspecifiedMatching +OMIM:602027 TERF2 skos:exactMatch hgnc.symbol:11729 semapv:UnspecifiedMatching +OMIM:602027 TERF2 skos:exactMatch hgnc.symbol:TERF2 semapv:UnspecifiedMatching +OMIM:602027 TERF2 skos:exactMatch ncbigene:7014 semapv:UnspecifiedMatching +OMIM:602030 FUT7 skos:exactMatch UMLS:C1414868 semapv:UnspecifiedMatching +OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:4018 semapv:UnspecifiedMatching +OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:FUT7 semapv:UnspecifiedMatching +OMIM:602030 FUT7 skos:exactMatch ncbigene:2529 semapv:UnspecifiedMatching +OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:8895 semapv:UnspecifiedMatching +OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:PGGT1B semapv:UnspecifiedMatching +OMIM:602031 PGGT1B skos:exactMatch ncbigene:5229 semapv:UnspecifiedMatching +OMIM:602032 ectodermal dysplasia 4, hair/nail iia skos:exactMatch MONDO:0011177 semapv:UnspecifiedMatching +OMIM:602033 EML1 skos:exactMatch hgnc.symbol:3330 semapv:UnspecifiedMatching +OMIM:602033 EML1 skos:exactMatch hgnc.symbol:EML1 semapv:UnspecifiedMatching +OMIM:602033 EML1 skos:exactMatch ncbigene:2009 semapv:UnspecifiedMatching +OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:2358 semapv:UnspecifiedMatching +OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:CRHR2 semapv:UnspecifiedMatching +OMIM:602034 CRHR2 skos:exactMatch ncbigene:1395 semapv:UnspecifiedMatching +OMIM:602035 PPP4C skos:exactMatch UMLS:C1418850 semapv:UnspecifiedMatching +OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:9319 semapv:UnspecifiedMatching +OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:PPP4C semapv:UnspecifiedMatching +OMIM:602035 PPP4C skos:exactMatch ncbigene:5531 semapv:UnspecifiedMatching +OMIM:602037 RHOH skos:exactMatch hgnc.symbol:686 semapv:UnspecifiedMatching +OMIM:602037 RHOH skos:exactMatch hgnc.symbol:RHOH semapv:UnspecifiedMatching +OMIM:602037 RHOH skos:exactMatch ncbigene:399 semapv:UnspecifiedMatching +OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:3074 semapv:UnspecifiedMatching +OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:DUSP8 semapv:UnspecifiedMatching +OMIM:602038 DUSP8 skos:exactMatch ncbigene:1850 semapv:UnspecifiedMatching +OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:3271 semapv:UnspecifiedMatching +OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:EIF3A semapv:UnspecifiedMatching +OMIM:602039 EIF3A skos:exactMatch ncbigene:8661 semapv:UnspecifiedMatching +OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:7657 semapv:UnspecifiedMatching +OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:NCAM2 semapv:UnspecifiedMatching +OMIM:602040 NCAM2 skos:exactMatch ncbigene:4685 semapv:UnspecifiedMatching +OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:7838 semapv:UnspecifiedMatching +OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:NKX3-1 semapv:UnspecifiedMatching +OMIM:602041 NKX3-1 skos:exactMatch ncbigene:4824 semapv:UnspecifiedMatching +OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:4472 semapv:UnspecifiedMatching +OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:GPR18 semapv:UnspecifiedMatching +OMIM:602042 GPR18 skos:exactMatch ncbigene:2841 semapv:UnspecifiedMatching +OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:4486 semapv:UnspecifiedMatching +OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:GPR31 semapv:UnspecifiedMatching +OMIM:602043 GPR31 skos:exactMatch ncbigene:2853 semapv:UnspecifiedMatching +OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:12519 semapv:UnspecifiedMatching +OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:UCP3 semapv:UnspecifiedMatching +OMIM:602044 UCP3 skos:exactMatch ncbigene:7352 semapv:UnspecifiedMatching +OMIM:602045 RING1 skos:exactMatch hgnc.symbol:10018 semapv:UnspecifiedMatching +OMIM:602045 RING1 skos:exactMatch hgnc.symbol:RING1 semapv:UnspecifiedMatching +OMIM:602045 RING1 skos:exactMatch ncbigene:6015 semapv:UnspecifiedMatching +OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:4606 semapv:UnspecifiedMatching +OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:PDIA3 semapv:UnspecifiedMatching +OMIM:602046 PDIA3 skos:exactMatch ncbigene:2923 semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch UMLS:C1418419 semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:8779 semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:PDE3B semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch ncbigene:5140 semapv:UnspecifiedMatching +OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:9801 semapv:UnspecifiedMatching +OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:RAC1 semapv:UnspecifiedMatching +OMIM:602048 RAC1 skos:exactMatch ncbigene:5879 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C1419228 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:9802 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:RAC2 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch ncbigene:5880 semapv:UnspecifiedMatching +OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:9803 semapv:UnspecifiedMatching +OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:RAC3 semapv:UnspecifiedMatching +OMIM:602050 RAC3 skos:exactMatch ncbigene:5881 semapv:UnspecifiedMatching +OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:8989 semapv:UnspecifiedMatching +OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:PIN1P1 semapv:UnspecifiedMatching +OMIM:602051 PIN1L skos:exactMatch ncbigene:5301 semapv:UnspecifiedMatching +OMIM:602052 GAK skos:exactMatch hgnc.symbol:4113 semapv:UnspecifiedMatching +OMIM:602052 GAK skos:exactMatch hgnc.symbol:GAK semapv:UnspecifiedMatching +OMIM:602052 GAK skos:exactMatch ncbigene:2580 semapv:UnspecifiedMatching +OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:2235 semapv:UnspecifiedMatching +OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:KLF6 semapv:UnspecifiedMatching +OMIM:602053 KLF6 skos:exactMatch ncbigene:1316 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C1420603 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch UMLS:C4016770 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:11592 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:TBX1 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch ncbigene:6899 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch UMLS:C1416450 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:6083 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:INSIG1 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch ncbigene:3638 semapv:UnspecifiedMatching +OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:2766 semapv:UnspecifiedMatching +OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:DEFB1 semapv:UnspecifiedMatching +OMIM:602056 DEFB1 skos:exactMatch ncbigene:1672 semapv:UnspecifiedMatching +OMIM:602058 PI10 skos:exactMatch hgnc.symbol:8942 semapv:UnspecifiedMatching +OMIM:602058 PI10 skos:exactMatch hgnc.symbol:SERPINB10 semapv:UnspecifiedMatching +OMIM:602058 PI10 skos:exactMatch ncbigene:5273 semapv:UnspecifiedMatching +OMIM:602059 ISLR skos:exactMatch hgnc.symbol:6133 semapv:UnspecifiedMatching +OMIM:602059 ISLR skos:exactMatch hgnc.symbol:ISLR semapv:UnspecifiedMatching +OMIM:602059 ISLR skos:exactMatch ncbigene:3671 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch UMLS:C1336641 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:11876 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:TMPRSS2 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch ncbigene:7113 semapv:UnspecifiedMatching +OMIM:602061 EREG skos:exactMatch hgnc.symbol:3443 semapv:UnspecifiedMatching +OMIM:602061 EREG skos:exactMatch hgnc.symbol:EREG semapv:UnspecifiedMatching +OMIM:602061 EREG skos:exactMatch ncbigene:2069 semapv:UnspecifiedMatching +OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:7824 semapv:UnspecifiedMatching +OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:NINJ1 semapv:UnspecifiedMatching +OMIM:602062 NINJ1 skos:exactMatch ncbigene:4814 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch UMLS:C1420580 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:11559 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:TALDO1 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch ncbigene:6888 semapv:UnspecifiedMatching +OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:6050 semapv:UnspecifiedMatching +OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:IMPA1 semapv:UnspecifiedMatching +OMIM:602064 IMPA1 skos:exactMatch ncbigene:3612 semapv:UnspecifiedMatching +OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:227 semapv:UnspecifiedMatching +OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:ADARB2 semapv:UnspecifiedMatching +OMIM:602065 ADARB2 skos:exactMatch ncbigene:105 semapv:UnspecifiedMatching +OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis skos:exactMatch MONDO:0011178 semapv:UnspecifiedMatching +OMIM:602068 leishmaniasis, tegumentary, susceptibility to skos:exactMatch MONDO:0011179 semapv:UnspecifiedMatching +OMIM:602069 NRP1 skos:exactMatch hgnc.symbol:8004 semapv:UnspecifiedMatching +OMIM:602069 NRP1 skos:exactMatch hgnc.symbol:NRP1 semapv:UnspecifiedMatching +OMIM:602069 NRP1 skos:exactMatch ncbigene:8829 semapv:UnspecifiedMatching +OMIM:602070 NRP2 skos:exactMatch hgnc.symbol:8005 semapv:UnspecifiedMatching +OMIM:602070 NRP2 skos:exactMatch hgnc.symbol:NRP2 semapv:UnspecifiedMatching +OMIM:602070 NRP2 skos:exactMatch ncbigene:8828 semapv:UnspecifiedMatching +OMIM:602071 broad terminal phalanges, familial skos:exactMatch MONDO:0011180 semapv:UnspecifiedMatching +OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:2277 semapv:UnspecifiedMatching +OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:COX6A1 semapv:UnspecifiedMatching +OMIM:602072 COX6A1 skos:exactMatch ncbigene:1337 semapv:UnspecifiedMatching +OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:2673 semapv:UnspecifiedMatching +OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:DAP3 semapv:UnspecifiedMatching +OMIM:602074 DAP3 skos:exactMatch ncbigene:7818 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch UMLS:C1419822 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:10541 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:SATB1 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch ncbigene:6304 semapv:UnspecifiedMatching +OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:12716 semapv:UnspecifiedMatching +OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:TRPV1 semapv:UnspecifiedMatching +OMIM:602076 TRPV1 skos:exactMatch ncbigene:7442 semapv:UnspecifiedMatching +OMIM:602078 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch MONDO:0011181 semapv:UnspecifiedMatching +OMIM:602079 trimethylaminuria skos:exactMatch MONDO:0018767 semapv:UnspecifiedMatching +OMIM:602079 trimethylaminuria skos:exactMatch Orphanet:468726 semapv:UnspecifiedMatching +OMIM:602079 trimethylaminuria skos:exactMatch UMLS:C0342739 semapv:UnspecifiedMatching +OMIM:602080 paget disease of bone 2, early-onset skos:exactMatch MONDO:0011183 semapv:UnspecifiedMatching +OMIM:602080 paget disease of bone 2, early-onset skos:exactMatch UMLS:C4085251 semapv:UnspecifiedMatching +OMIM:602081 speech-language disorder 1 skos:exactMatch MONDO:0011184 semapv:UnspecifiedMatching +OMIM:602081 speech-language disorder 1 skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching +OMIM:602081 speech-language disorder 1 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching +OMIM:602082 corneal dystrophy, thiel-behnke iia skos:exactMatch MONDO:0011185 semapv:UnspecifiedMatching +OMIM:602083 usher syndrome, iia 1f skos:exactMatch MONDO:0011186 semapv:UnspecifiedMatching +OMIM:602085 polydactyly, postaxial, iia a2 skos:exactMatch MONDO:0011187 semapv:UnspecifiedMatching +OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 skos:exactMatch MONDO:0011188 semapv:UnspecifiedMatching +OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 skos:exactMatch MONDO:0011189 semapv:UnspecifiedMatching +OMIM:602088 nephronophthisis 2 skos:exactMatch MONDO:0011190 semapv:UnspecifiedMatching +OMIM:602089 hemangioma, capillary infantile skos:exactMatch MONDO:0011191 semapv:UnspecifiedMatching +OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:6716 semapv:UnspecifiedMatching +OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:LTBP3 semapv:UnspecifiedMatching +OMIM:602090 LTBP3 skos:exactMatch ncbigene:4054 semapv:UnspecifiedMatching +OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:6715 semapv:UnspecifiedMatching +OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:LTBP2 semapv:UnspecifiedMatching +OMIM:602091 LTBP2 skos:exactMatch ncbigene:4053 semapv:UnspecifiedMatching +OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch MONDO:0011192 semapv:UnspecifiedMatching +OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching +OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching +OMIM:602093 cone dystrophy 3 skos:exactMatch MONDO:0011193 semapv:UnspecifiedMatching +OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:11015 semapv:UnspecifiedMatching +OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:SLC30A4 semapv:UnspecifiedMatching +OMIM:602095 SLC30A4 skos:exactMatch ncbigene:7782 semapv:UnspecifiedMatching +OMIM:602096 alzheimer disease 5 skos:exactMatch MONDO:0011194 semapv:UnspecifiedMatching +OMIM:602097 usher syndrome, iia 1e skos:exactMatch MONDO:0011195 semapv:UnspecifiedMatching +OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:9077 semapv:UnspecifiedMatching +OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:PLK1 semapv:UnspecifiedMatching +OMIM:602098 PLK1 skos:exactMatch ncbigene:5347 semapv:UnspecifiedMatching +OMIM:602099 amyotrophic lateral sclerosis 5, juvenile skos:exactMatch MONDO:0011196 semapv:UnspecifiedMatching +OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:9022 semapv:UnspecifiedMatching +OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:PKNOX1 semapv:UnspecifiedMatching +OMIM:602100 PKNOX1 skos:exactMatch ncbigene:5316 semapv:UnspecifiedMatching +OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:2047 semapv:UnspecifiedMatching +OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:CLDN5 semapv:UnspecifiedMatching +OMIM:602101 CLDN5 skos:exactMatch ncbigene:7122 semapv:UnspecifiedMatching +OMIM:602102 SUPT5H skos:exactMatch UMLS:C0812268 semapv:UnspecifiedMatching +OMIM:602102 SUPT5H skos:exactMatch hgnc.symbol:11469 semapv:UnspecifiedMatching +OMIM:602102 SUPT5H skos:exactMatch hgnc.symbol:SUPT5H semapv:UnspecifiedMatching +OMIM:602102 SUPT5H skos:exactMatch ncbigene:6829 semapv:UnspecifiedMatching +OMIM:602103 TRAPPC10 skos:exactMatch hgnc.symbol:11868 semapv:UnspecifiedMatching +OMIM:602103 TRAPPC10 skos:exactMatch hgnc.symbol:TRAPPC10 semapv:UnspecifiedMatching +OMIM:602103 TRAPPC10 skos:exactMatch ncbigene:7109 semapv:UnspecifiedMatching +OMIM:602104 SH3BP2 skos:exactMatch hgnc.symbol:10825 semapv:UnspecifiedMatching +OMIM:602104 SH3BP2 skos:exactMatch hgnc.symbol:SH3BP2 semapv:UnspecifiedMatching +OMIM:602104 SH3BP2 skos:exactMatch ncbigene:6452 semapv:UnspecifiedMatching +OMIM:602105 MSH4 skos:exactMatch hgnc.symbol:7327 semapv:UnspecifiedMatching +OMIM:602105 MSH4 skos:exactMatch hgnc.symbol:MSH4 semapv:UnspecifiedMatching +OMIM:602105 MSH4 skos:exactMatch ncbigene:4438 semapv:UnspecifiedMatching +OMIM:602106 KCNJ15 skos:exactMatch hgnc.symbol:6261 semapv:UnspecifiedMatching +OMIM:602106 KCNJ15 skos:exactMatch hgnc.symbol:KCNJ15 semapv:UnspecifiedMatching +OMIM:602106 KCNJ15 skos:exactMatch ncbigene:3772 semapv:UnspecifiedMatching +OMIM:602107 neuropathy, hereditary thermosensitive skos:exactMatch MONDO:0011197 semapv:UnspecifiedMatching +OMIM:602108 MATN2 skos:exactMatch hgnc.symbol:6908 semapv:UnspecifiedMatching +OMIM:602108 MATN2 skos:exactMatch hgnc.symbol:MATN2 semapv:UnspecifiedMatching +OMIM:602108 MATN2 skos:exactMatch ncbigene:4147 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch UMLS:C1417043 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch UMLS:C1846843 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch UMLS:C3887526 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch hgnc.symbol:6909 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch hgnc.symbol:MATN3 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch ncbigene:4148 semapv:UnspecifiedMatching +OMIM:602110 SLC29A2 skos:exactMatch hgnc.symbol:11004 semapv:UnspecifiedMatching +OMIM:602110 SLC29A2 skos:exactMatch hgnc.symbol:SLC29A2 semapv:UnspecifiedMatching +OMIM:602110 SLC29A2 skos:exactMatch ncbigene:3177 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch MONDO:0011198 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch Orphanet:1040 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch Orphanet:93356 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch UMLS:C2748495 semapv:UnspecifiedMatching +OMIM:602112 MPPED1 skos:exactMatch hgnc.symbol:1306 semapv:UnspecifiedMatching +OMIM:602112 MPPED1 skos:exactMatch hgnc.symbol:MPPED1 semapv:UnspecifiedMatching +OMIM:602112 MPPED1 skos:exactMatch ncbigene:758 semapv:UnspecifiedMatching +OMIM:602113 KMT2D skos:exactMatch hgnc.symbol:7133 semapv:UnspecifiedMatching +OMIM:602113 KMT2D skos:exactMatch hgnc.symbol:KMT2D semapv:UnspecifiedMatching +OMIM:602113 KMT2D skos:exactMatch ncbigene:8085 semapv:UnspecifiedMatching +OMIM:602114 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch MONDO:0011199 semapv:UnspecifiedMatching +OMIM:602115 FGF10 skos:exactMatch hgnc.symbol:3666 semapv:UnspecifiedMatching +OMIM:602115 FGF10 skos:exactMatch hgnc.symbol:FGF10 semapv:UnspecifiedMatching +OMIM:602115 FGF10 skos:exactMatch ncbigene:2255 semapv:UnspecifiedMatching +OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:24859 semapv:UnspecifiedMatching +OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:YEATS4 semapv:UnspecifiedMatching +OMIM:602116 YEATS4 skos:exactMatch ncbigene:8089 semapv:UnspecifiedMatching +OMIM:602117 NDN skos:exactMatch hgnc.symbol:7675 semapv:UnspecifiedMatching +OMIM:602117 NDN skos:exactMatch hgnc.symbol:NDN semapv:UnspecifiedMatching +OMIM:602117 NDN skos:exactMatch ncbigene:4692 semapv:UnspecifiedMatching +OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:1915 semapv:UnspecifiedMatching +OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:CHD1 semapv:UnspecifiedMatching +OMIM:602118 CHD1 skos:exactMatch ncbigene:1105 semapv:UnspecifiedMatching +OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:1917 semapv:UnspecifiedMatching +OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:CHD2 semapv:UnspecifiedMatching +OMIM:602119 CHD2 skos:exactMatch ncbigene:1106 semapv:UnspecifiedMatching +OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:1918 semapv:UnspecifiedMatching +OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:CHD3 semapv:UnspecifiedMatching +OMIM:602120 CHD3 skos:exactMatch ncbigene:1107 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1414047 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4225261 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4479674 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:2876 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:DIAPH1 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch ncbigene:1729 semapv:UnspecifiedMatching +OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:11303 semapv:UnspecifiedMatching +OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:SRP72 semapv:UnspecifiedMatching +OMIM:602122 SRP72 skos:exactMatch ncbigene:6731 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch UMLS:C1413102 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:1463 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:CAMK2G semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch ncbigene:818 semapv:UnspecifiedMatching +OMIM:602124 dystonia 7, torsion skos:exactMatch MONDO:0011200 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch UMLS:C1413629 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch hgnc.symbol:2260 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch hgnc.symbol:COX10 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch ncbigene:1352 semapv:UnspecifiedMatching +OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:12860 semapv:UnspecifiedMatching +OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:ZBTB14 semapv:UnspecifiedMatching +OMIM:602126 ZBTB14 skos:exactMatch ncbigene:7541 semapv:UnspecifiedMatching +OMIM:602127 SMTN skos:exactMatch hgnc.symbol:11126 semapv:UnspecifiedMatching +OMIM:602127 SMTN skos:exactMatch hgnc.symbol:SMTN semapv:UnspecifiedMatching +OMIM:602127 SMTN skos:exactMatch ncbigene:6525 semapv:UnspecifiedMatching +OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:16955 semapv:UnspecifiedMatching +OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:GAS2L1 semapv:UnspecifiedMatching +OMIM:602128 GAS2L1 skos:exactMatch ncbigene:10634 semapv:UnspecifiedMatching +OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:7609 semapv:UnspecifiedMatching +OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:MYO9B semapv:UnspecifiedMatching +OMIM:602129 MYO9B skos:exactMatch ncbigene:4650 semapv:UnspecifiedMatching +OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:6888 semapv:UnspecifiedMatching +OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:MAPKAPK3 semapv:UnspecifiedMatching +OMIM:602130 MAPKAPK3 skos:exactMatch ncbigene:7867 semapv:UnspecifiedMatching +OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:12385 semapv:UnspecifiedMatching +OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:PHLDA2 semapv:UnspecifiedMatching +OMIM:602131 PHLDA2 skos:exactMatch ncbigene:7262 semapv:UnspecifiedMatching +OMIM:602132 MIA2 skos:exactMatch UMLS:C1425512 semapv:UnspecifiedMatching +OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:18432 semapv:UnspecifiedMatching +OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:MIA2 semapv:UnspecifiedMatching +OMIM:602132 MIA2 skos:exactMatch ncbigene:4253 semapv:UnspecifiedMatching +OMIM:602133 PFAS skos:exactMatch hgnc.symbol:8863 semapv:UnspecifiedMatching +OMIM:602133 PFAS skos:exactMatch hgnc.symbol:PFAS semapv:UnspecifiedMatching +OMIM:602133 PFAS skos:exactMatch ncbigene:5198 semapv:UnspecifiedMatching +OMIM:602134 tremor, hereditary essential, 2 skos:exactMatch MONDO:0011201 semapv:UnspecifiedMatching +OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:14353 semapv:UnspecifiedMatching +OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:DNALI1 semapv:UnspecifiedMatching +OMIM:602135 DNALI1 skos:exactMatch ncbigene:7802 semapv:UnspecifiedMatching +OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:8850 semapv:UnspecifiedMatching +OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:PEX1 semapv:UnspecifiedMatching +OMIM:602136 PEX1 skos:exactMatch ncbigene:5189 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch UMLS:C1417622 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:7685 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:NDUFA2 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch ncbigene:4695 semapv:UnspecifiedMatching +OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:7690 semapv:UnspecifiedMatching +OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:NDUFA6 semapv:UnspecifiedMatching +OMIM:602138 NDUFA6 skos:exactMatch ncbigene:4700 semapv:UnspecifiedMatching +OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:7691 semapv:UnspecifiedMatching +OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:NDUFA7 semapv:UnspecifiedMatching +OMIM:602139 NDUFA7 skos:exactMatch ncbigene:4701 semapv:UnspecifiedMatching +OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:7703 semapv:UnspecifiedMatching +OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:NDUFB8 semapv:UnspecifiedMatching +OMIM:602140 NDUFB8 skos:exactMatch ncbigene:4714 semapv:UnspecifiedMatching +OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:7715 semapv:UnspecifiedMatching +OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:NDUFS8 semapv:UnspecifiedMatching +OMIM:602141 NDUFS8 skos:exactMatch ncbigene:4728 semapv:UnspecifiedMatching +OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:9060 semapv:UnspecifiedMatching +OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:PLCD1 semapv:UnspecifiedMatching +OMIM:602142 PLCD1 skos:exactMatch ncbigene:5333 semapv:UnspecifiedMatching +OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:12000 semapv:UnspecifiedMatching +OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:TP53BP2 semapv:UnspecifiedMatching +OMIM:602143 TP53BP2 skos:exactMatch ncbigene:7159 semapv:UnspecifiedMatching +OMIM:602144 BRDT skos:exactMatch hgnc.symbol:1105 semapv:UnspecifiedMatching +OMIM:602144 BRDT skos:exactMatch hgnc.symbol:BRDT semapv:UnspecifiedMatching +OMIM:602144 BRDT skos:exactMatch ncbigene:676 semapv:UnspecifiedMatching +OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:8550 semapv:UnspecifiedMatching +OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:PA2G4 semapv:UnspecifiedMatching +OMIM:602145 PA2G4 skos:exactMatch ncbigene:5036 semapv:UnspecifiedMatching +OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:21734 semapv:UnspecifiedMatching +OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:LHX4 semapv:UnspecifiedMatching +OMIM:602146 LHX4 skos:exactMatch ncbigene:89884 semapv:UnspecifiedMatching +OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:11189 semapv:UnspecifiedMatching +OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:SOX1 semapv:UnspecifiedMatching +OMIM:602148 SOX1 skos:exactMatch ncbigene:6656 semapv:UnspecifiedMatching +OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:9004 semapv:UnspecifiedMatching +OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:PITX1 semapv:UnspecifiedMatching +OMIM:602149 PITX1 skos:exactMatch ncbigene:5307 semapv:UnspecifiedMatching +OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:11094 semapv:UnspecifiedMatching +OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:SNAI2 semapv:UnspecifiedMatching +OMIM:602150 SNAI2 skos:exactMatch ncbigene:6591 semapv:UnspecifiedMatching +OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:3086 semapv:UnspecifiedMatching +OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:DVL2 semapv:UnspecifiedMatching +OMIM:602151 DVL2 skos:exactMatch ncbigene:1856 semapv:UnspecifiedMatching +OMIM:602152 rhyns syndrome skos:exactMatch MONDO:0011202 semapv:UnspecifiedMatching +OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:6458 semapv:UnspecifiedMatching +OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:KRT81 semapv:UnspecifiedMatching +OMIM:602153 KRT81 skos:exactMatch ncbigene:3887 semapv:UnspecifiedMatching +OMIM:602154 noncoding transcript 1n t cells skos:exactMatch ncbigene:7956 semapv:UnspecifiedMatching +OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:30307 semapv:UnspecifiedMatching +OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:UBXN8 semapv:UnspecifiedMatching +OMIM:602155 UBXN8 skos:exactMatch ncbigene:7993 semapv:UnspecifiedMatching +OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:7886 semapv:UnspecifiedMatching +OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:NOVA1 semapv:UnspecifiedMatching +OMIM:602157 NOVA1 skos:exactMatch ncbigene:4857 semapv:UnspecifiedMatching +OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:2080 semapv:UnspecifiedMatching +OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:CLNS1A semapv:UnspecifiedMatching +OMIM:602158 CLNS1A skos:exactMatch ncbigene:1207 semapv:UnspecifiedMatching +OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:2255 semapv:UnspecifiedMatching +OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:CORO2A semapv:UnspecifiedMatching +OMIM:602159 CORO2A skos:exactMatch ncbigene:7464 semapv:UnspecifiedMatching +OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:11751 semapv:UnspecifiedMatching +OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:TFDP2 semapv:UnspecifiedMatching +OMIM:602160 TFDP2 skos:exactMatch ncbigene:7029 semapv:UnspecifiedMatching +OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:9569 semapv:UnspecifiedMatching +OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:PSME2 semapv:UnspecifiedMatching +OMIM:602161 PSME2 skos:exactMatch ncbigene:5721 semapv:UnspecifiedMatching +OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:11487 semapv:UnspecifiedMatching +OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:SYCP1 semapv:UnspecifiedMatching +OMIM:602162 SYCP1 skos:exactMatch ncbigene:6847 semapv:UnspecifiedMatching +OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:12478 semapv:UnspecifiedMatching +OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:UBE2E2 semapv:UnspecifiedMatching +OMIM:602163 UBE2E2 skos:exactMatch ncbigene:7325 semapv:UnspecifiedMatching +OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:5299 semapv:UnspecifiedMatching +OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:HTR4 semapv:UnspecifiedMatching +OMIM:602164 HTR4 skos:exactMatch ncbigene:3360 semapv:UnspecifiedMatching +OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:9975 semapv:UnspecifiedMatching +OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:TRIM27 semapv:UnspecifiedMatching +OMIM:602165 TRIM27 skos:exactMatch ncbigene:5987 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch UMLS:C1412447 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:567 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:AP3B2 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch ncbigene:8120 semapv:UnspecifiedMatching +OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:3473 semapv:UnspecifiedMatching +OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:ESRRB semapv:UnspecifiedMatching +OMIM:602167 ESRRB skos:exactMatch ncbigene:2103 semapv:UnspecifiedMatching +OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:12718 semapv:UnspecifiedMatching +OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:VRK1 semapv:UnspecifiedMatching +OMIM:602168 VRK1 skos:exactMatch ncbigene:7443 semapv:UnspecifiedMatching +OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:12719 semapv:UnspecifiedMatching +OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:VRK2 semapv:UnspecifiedMatching +OMIM:602169 VRK2 skos:exactMatch ncbigene:7444 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch UMLS:C1417530 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch UMLS:C3549870 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:7562 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:MYD88 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch ncbigene:4615 semapv:UnspecifiedMatching +OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:4445 semapv:UnspecifiedMatching +OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:GPA33 semapv:UnspecifiedMatching +OMIM:602171 GPA33 skos:exactMatch ncbigene:10223 semapv:UnspecifiedMatching +OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:2653 semapv:UnspecifiedMatching +OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:CYP8B1 semapv:UnspecifiedMatching +OMIM:602172 CYP8B1 skos:exactMatch ncbigene:1582 semapv:UnspecifiedMatching +OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:11846 semapv:UnspecifiedMatching +OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:SEC62 semapv:UnspecifiedMatching +OMIM:602173 SEC62 skos:exactMatch ncbigene:7095 semapv:UnspecifiedMatching +OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:4480 semapv:UnspecifiedMatching +OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:GPR25 semapv:UnspecifiedMatching +OMIM:602174 GPR25 skos:exactMatch ncbigene:2848 semapv:UnspecifiedMatching +OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:9539 semapv:UnspecifiedMatching +OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:PSMB2 semapv:UnspecifiedMatching +OMIM:602175 PSMB2 skos:exactMatch ncbigene:5690 semapv:UnspecifiedMatching +OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:9540 semapv:UnspecifiedMatching +OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:PSMB3 semapv:UnspecifiedMatching +OMIM:602176 PSMB3 skos:exactMatch ncbigene:5691 semapv:UnspecifiedMatching +OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:9541 semapv:UnspecifiedMatching +OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:PSMB4 semapv:UnspecifiedMatching +OMIM:602177 PSMB4 skos:exactMatch ncbigene:5692 semapv:UnspecifiedMatching +OMIM:602178 CHAD skos:exactMatch hgnc.symbol:1909 semapv:UnspecifiedMatching +OMIM:602178 CHAD skos:exactMatch hgnc.symbol:CHAD semapv:UnspecifiedMatching +OMIM:602178 CHAD skos:exactMatch ncbigene:1101 semapv:UnspecifiedMatching +OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:5247 semapv:UnspecifiedMatching +OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:HSPB2 semapv:UnspecifiedMatching +OMIM:602179 HSPB2 skos:exactMatch ncbigene:3316 semapv:UnspecifiedMatching +OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:10885 semapv:UnspecifiedMatching +OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:SIPA1 semapv:UnspecifiedMatching +OMIM:602180 SIPA1 skos:exactMatch ncbigene:6494 semapv:UnspecifiedMatching +OMIM:602181 SND1 skos:exactMatch hgnc.symbol:30646 semapv:UnspecifiedMatching +OMIM:602181 SND1 skos:exactMatch hgnc.symbol:SND1 semapv:UnspecifiedMatching +OMIM:602181 SND1 skos:exactMatch ncbigene:27044 semapv:UnspecifiedMatching +OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:3358 semapv:UnspecifiedMatching +OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:ENPP3 semapv:UnspecifiedMatching +OMIM:602182 ENPP3 skos:exactMatch ncbigene:5169 semapv:UnspecifiedMatching +OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:951 semapv:UnspecifiedMatching +OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:NKX3-2 semapv:UnspecifiedMatching +OMIM:602183 NKX3-2 skos:exactMatch ncbigene:579 semapv:UnspecifiedMatching +OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:7719 semapv:UnspecifiedMatching +OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:NDUFV3 semapv:UnspecifiedMatching +OMIM:602184 NDUFV3 skos:exactMatch ncbigene:4731 semapv:UnspecifiedMatching +OMIM:602186 VGF skos:exactMatch hgnc.symbol:12684 semapv:UnspecifiedMatching +OMIM:602186 VGF skos:exactMatch hgnc.symbol:VGF semapv:UnspecifiedMatching +OMIM:602186 VGF skos:exactMatch ncbigene:7425 semapv:UnspecifiedMatching +OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:12986 semapv:UnspecifiedMatching +OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:ZNF195 semapv:UnspecifiedMatching +OMIM:602187 ZNF195 skos:exactMatch ncbigene:7748 semapv:UnspecifiedMatching +OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:3388 semapv:UnspecifiedMatching +OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:EPHA4 semapv:UnspecifiedMatching +OMIM:602188 EPHA4 skos:exactMatch ncbigene:2043 semapv:UnspecifiedMatching +OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:9999 semapv:UnspecifiedMatching +OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:RGS3 semapv:UnspecifiedMatching +OMIM:602189 RGS3 skos:exactMatch ncbigene:5998 semapv:UnspecifiedMatching +OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:3390 semapv:UnspecifiedMatching +OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:EPHA7 semapv:UnspecifiedMatching +OMIM:602190 EPHA7 skos:exactMatch ncbigene:2045 semapv:UnspecifiedMatching +OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:3318 semapv:UnspecifiedMatching +OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:ELF3 semapv:UnspecifiedMatching +OMIM:602191 ELF3 skos:exactMatch ncbigene:1999 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch UMLS:C0406811 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch UMLS:C1412181 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch UMLS:C4016772 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:188 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:ADAM10 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch ncbigene:102 semapv:UnspecifiedMatching +OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:11003 semapv:UnspecifiedMatching +OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:SLC29A1 semapv:UnspecifiedMatching +OMIM:602193 SLC29A1 skos:exactMatch ncbigene:2030 semapv:UnspecifiedMatching +OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:9476 semapv:UnspecifiedMatching +OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:HTRA1 semapv:UnspecifiedMatching +OMIM:602194 HTRA1 skos:exactMatch ncbigene:5654 semapv:UnspecifiedMatching +OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:5246 semapv:UnspecifiedMatching +OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:HSPB1 semapv:UnspecifiedMatching +OMIM:602195 HSPB1 skos:exactMatch ncbigene:3315 semapv:UnspecifiedMatching +OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch MONDO:0011203 semapv:UnspecifiedMatching +OMIM:602197 cerebellar degeneration-related autoantigen 3 skos:exactMatch MONDO:0011204 semapv:UnspecifiedMatching +OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:14002 semapv:UnspecifiedMatching +OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:CDK2AP1 semapv:UnspecifiedMatching +OMIM:602198 CDK2AP1 skos:exactMatch ncbigene:8099 semapv:UnspecifiedMatching +OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency skos:exactMatch MONDO:0011205 semapv:UnspecifiedMatching +OMIM:602200 ventriculomegaly with defects of the radius and kidney skos:exactMatch MONDO:0011206 semapv:UnspecifiedMatching +OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:3153 semapv:UnspecifiedMatching +OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:ECM1 semapv:UnspecifiedMatching +OMIM:602201 ECM1 skos:exactMatch ncbigene:1893 semapv:UnspecifiedMatching +OMIM:602202 DDOST skos:exactMatch hgnc.symbol:2728 semapv:UnspecifiedMatching +OMIM:602202 DDOST skos:exactMatch hgnc.symbol:DDOST semapv:UnspecifiedMatching +OMIM:602202 DDOST skos:exactMatch ncbigene:1650 semapv:UnspecifiedMatching +OMIM:602203 SLN skos:exactMatch hgnc.symbol:11089 semapv:UnspecifiedMatching +OMIM:602203 SLN skos:exactMatch hgnc.symbol:SLN semapv:UnspecifiedMatching +OMIM:602203 SLN skos:exactMatch ncbigene:6588 semapv:UnspecifiedMatching +OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:1049 semapv:UnspecifiedMatching +OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:BICD1 semapv:UnspecifiedMatching +OMIM:602204 BICD1 skos:exactMatch ncbigene:636 semapv:UnspecifiedMatching +OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:16523 semapv:UnspecifiedMatching +OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:RAB17 semapv:UnspecifiedMatching +OMIM:602206 RAB17 skos:exactMatch ncbigene:64284 semapv:UnspecifiedMatching +OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:14244 semapv:UnspecifiedMatching +OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:RAB18 semapv:UnspecifiedMatching +OMIM:602207 RAB18 skos:exactMatch ncbigene:22931 semapv:UnspecifiedMatching +OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:6256 semapv:UnspecifiedMatching +OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:KCNJ10 semapv:UnspecifiedMatching +OMIM:602208 KCNJ10 skos:exactMatch ncbigene:3766 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch UMLS:C1419758 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:10449 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:RREB1 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch ncbigene:6239 semapv:UnspecifiedMatching +OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:3277 semapv:UnspecifiedMatching +OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:EIF3E semapv:UnspecifiedMatching +OMIM:602210 EIF3E skos:exactMatch ncbigene:3646 semapv:UnspecifiedMatching +OMIM:602211 FOXD2 skos:exactMatch UMLS:C1414671 semapv:UnspecifiedMatching +OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:3803 semapv:UnspecifiedMatching +OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:FOXD2 semapv:UnspecifiedMatching +OMIM:602211 FOXD2 skos:exactMatch ncbigene:2306 semapv:UnspecifiedMatching +OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:10857 semapv:UnspecifiedMatching +OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:SIAH1 semapv:UnspecifiedMatching +OMIM:602212 SIAH1 skos:exactMatch ncbigene:6477 semapv:UnspecifiedMatching +OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:10858 semapv:UnspecifiedMatching +OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:SIAH2 semapv:UnspecifiedMatching +OMIM:602213 SIAH2 skos:exactMatch ncbigene:6478 semapv:UnspecifiedMatching +OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:2455 semapv:UnspecifiedMatching +OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:CSNK1G2 semapv:UnspecifiedMatching +OMIM:602214 CSNK1G2 skos:exactMatch ncbigene:1455 semapv:UnspecifiedMatching +OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:2767 semapv:UnspecifiedMatching +OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:DEFB4A semapv:UnspecifiedMatching +OMIM:602215 DEFB4A skos:exactMatch ncbigene:1673 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C0031269 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C0694883 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch UMLS:C4016776 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch hgnc.symbol:11389 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch hgnc.symbol:STK11 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch ncbigene:6794 semapv:UnspecifiedMatching +OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:10662 semapv:UnspecifiedMatching +OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:SDCBP semapv:UnspecifiedMatching +OMIM:602217 SDCBP skos:exactMatch ncbigene:6386 semapv:UnspecifiedMatching +OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:10524 semapv:UnspecifiedMatching +OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:SALL1 semapv:UnspecifiedMatching +OMIM:602218 SALL1 skos:exactMatch ncbigene:6299 semapv:UnspecifiedMatching +OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:10526 semapv:UnspecifiedMatching +OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:SALL2 semapv:UnspecifiedMatching +OMIM:602219 SALL2 skos:exactMatch ncbigene:6297 semapv:UnspecifiedMatching +OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:16954 semapv:UnspecifiedMatching +OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:RASL10A semapv:UnspecifiedMatching +OMIM:602220 RASL10A skos:exactMatch ncbigene:10633 semapv:UnspecifiedMatching +OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:12989 semapv:UnspecifiedMatching +OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:ZMYM2 semapv:UnspecifiedMatching +OMIM:602221 ZMYM2 skos:exactMatch ncbigene:7750 semapv:UnspecifiedMatching +OMIM:602223 EIF4EBP1 skos:exactMatch hgnc.symbol:3288 semapv:UnspecifiedMatching +OMIM:602223 EIF4EBP1 skos:exactMatch hgnc.symbol:EIF4EBP1 semapv:UnspecifiedMatching +OMIM:602223 EIF4EBP1 skos:exactMatch ncbigene:1978 semapv:UnspecifiedMatching +OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:3289 semapv:UnspecifiedMatching +OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:EIF4EBP2 semapv:UnspecifiedMatching +OMIM:602224 EIF4EBP2 skos:exactMatch ncbigene:1979 semapv:UnspecifiedMatching +OMIM:602225 CRX skos:exactMatch hgnc.symbol:2383 semapv:UnspecifiedMatching +OMIM:602225 CRX skos:exactMatch hgnc.symbol:CRX semapv:UnspecifiedMatching +OMIM:602225 CRX skos:exactMatch ncbigene:1406 semapv:UnspecifiedMatching +OMIM:602226 CD180 skos:exactMatch hgnc.symbol:6726 semapv:UnspecifiedMatching +OMIM:602226 CD180 skos:exactMatch hgnc.symbol:CD180 semapv:UnspecifiedMatching +OMIM:602226 CD180 skos:exactMatch ncbigene:4064 semapv:UnspecifiedMatching +OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:10617 semapv:UnspecifiedMatching +OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:CCL19 semapv:UnspecifiedMatching +OMIM:602227 CCL19 skos:exactMatch ncbigene:6363 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch UMLS:C1420644 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:11641 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:TCF7L2 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch ncbigene:6934 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch UMLS:C1420317 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch UMLS:C1836727 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch UMLS:C2748472 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch UMLS:C2750452 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch UMLS:C4016778 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:11190 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:SOX10 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch ncbigene:6663 semapv:UnspecifiedMatching +OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:10822 semapv:UnspecifiedMatching +OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:SH3BGR semapv:UnspecifiedMatching +OMIM:602230 SH3BGR skos:exactMatch ncbigene:6450 semapv:UnspecifiedMatching +OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:11124 semapv:UnspecifiedMatching +OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:SUMO3 semapv:UnspecifiedMatching +OMIM:602231 SUMO3 skos:exactMatch ncbigene:6612 semapv:UnspecifiedMatching +OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:6297 semapv:UnspecifiedMatching +OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:KCNQ3 semapv:UnspecifiedMatching +OMIM:602232 KCNQ3 skos:exactMatch ncbigene:3786 semapv:UnspecifiedMatching +OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:576 semapv:UnspecifiedMatching +OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:APAF1 semapv:UnspecifiedMatching +OMIM:602233 APAF1 skos:exactMatch ncbigene:317 semapv:UnspecifiedMatching +OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:1511 semapv:UnspecifiedMatching +OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:CASP9 semapv:UnspecifiedMatching +OMIM:602234 CASP9 skos:exactMatch ncbigene:842 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch UMLS:C1416614 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149075 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:6296 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:KCNQ2 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch ncbigene:3785 semapv:UnspecifiedMatching +OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:17097 semapv:UnspecifiedMatching +OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:EXOSC2 semapv:UnspecifiedMatching +OMIM:602238 EXOSC2 skos:exactMatch ncbigene:23404 semapv:UnspecifiedMatching +OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:2603 semapv:UnspecifiedMatching +OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:CYP26A1 semapv:UnspecifiedMatching +OMIM:602239 CYP26A1 skos:exactMatch ncbigene:1592 semapv:UnspecifiedMatching +OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:12983 semapv:UnspecifiedMatching +OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:ZKSCAN8 semapv:UnspecifiedMatching +OMIM:602240 ZNF192 skos:exactMatch ncbigene:7745 semapv:UnspecifiedMatching +OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:7104 semapv:UnspecifiedMatching +OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:MIPEP semapv:UnspecifiedMatching +OMIM:602241 MIPEP skos:exactMatch ncbigene:4285 semapv:UnspecifiedMatching +OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:565 semapv:UnspecifiedMatching +OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:AP2S1 semapv:UnspecifiedMatching +OMIM:602242 AP2S1 skos:exactMatch ncbigene:1175 semapv:UnspecifiedMatching +OMIM:602243 CD151 skos:exactMatch hgnc.symbol:1630 semapv:UnspecifiedMatching +OMIM:602243 CD151 skos:exactMatch hgnc.symbol:CD151 semapv:UnspecifiedMatching +OMIM:602243 CD151 skos:exactMatch ncbigene:977 semapv:UnspecifiedMatching +OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:2959 semapv:UnspecifiedMatching +OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:DNASE1L3 semapv:UnspecifiedMatching +OMIM:602244 DNASE1L3 skos:exactMatch ncbigene:1776 semapv:UnspecifiedMatching +OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:4669 semapv:UnspecifiedMatching +OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:GTPBP1 semapv:UnspecifiedMatching +OMIM:602245 GTPBP1 skos:exactMatch ncbigene:9567 semapv:UnspecifiedMatching +OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:12984 semapv:UnspecifiedMatching +OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:ZSCAN9 semapv:UnspecifiedMatching +OMIM:602246 ZNF193 skos:exactMatch ncbigene:7746 semapv:UnspecifiedMatching +OMIM:602247 xanthomatosis, susceptibility to skos:exactMatch MONDO:0011207 semapv:UnspecifiedMatching +OMIM:602248 malignant atrophic papulosis skos:exactMatch MONDO:0011208 semapv:UnspecifiedMatching +OMIM:602249 progeroid facial appearance with hand anomalies skos:exactMatch MONDO:0011209 semapv:UnspecifiedMatching +OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:11924 semapv:UnspecifiedMatching +OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:TNFRSF9 semapv:UnspecifiedMatching +OMIM:602250 TNFRSF9 skos:exactMatch ncbigene:3604 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch UMLS:C1420738 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:11814 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:TIMM10 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch ncbigene:26519 semapv:UnspecifiedMatching +OMIM:602252 mitochondrial intermembrane space protein tim12, yeast, homolog of skos:exactMatch MONDO:0011210 semapv:UnspecifiedMatching +OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:6348 semapv:UnspecifiedMatching +OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:KLF4 semapv:UnspecifiedMatching +OMIM:602253 KLF4 skos:exactMatch ncbigene:9314 semapv:UnspecifiedMatching +OMIM:602254 SRRD skos:exactMatch hgnc.symbol:33910 semapv:UnspecifiedMatching +OMIM:602254 SRRD skos:exactMatch hgnc.symbol:SRRD semapv:UnspecifiedMatching +OMIM:602254 SRRD skos:exactMatch ncbigene:402055 semapv:UnspecifiedMatching +OMIM:602255 STK25 skos:exactMatch hgnc.symbol:11404 semapv:UnspecifiedMatching +OMIM:602255 STK25 skos:exactMatch hgnc.symbol:STK25 semapv:UnspecifiedMatching +OMIM:602255 STK25 skos:exactMatch ncbigene:10494 semapv:UnspecifiedMatching +OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:9244 semapv:UnspecifiedMatching +OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:PPEF2 semapv:UnspecifiedMatching +OMIM:602256 PPEF2 skos:exactMatch ncbigene:5470 semapv:UnspecifiedMatching +OMIM:602257 SCARB2 skos:exactMatch hgnc.symbol:1665 semapv:UnspecifiedMatching +OMIM:602257 SCARB2 skos:exactMatch hgnc.symbol:SCARB2 semapv:UnspecifiedMatching +OMIM:602257 SCARB2 skos:exactMatch ncbigene:950 semapv:UnspecifiedMatching +OMIM:602259 TTC3 skos:exactMatch hgnc.symbol:12393 semapv:UnspecifiedMatching +OMIM:602259 TTC3 skos:exactMatch hgnc.symbol:TTC3 semapv:UnspecifiedMatching +OMIM:602259 TTC3 skos:exactMatch ncbigene:7267 semapv:UnspecifiedMatching +OMIM:602260 PER1 skos:exactMatch hgnc.symbol:8845 semapv:UnspecifiedMatching +OMIM:602260 PER1 skos:exactMatch hgnc.symbol:PER1 semapv:UnspecifiedMatching +OMIM:602260 PER1 skos:exactMatch ncbigene:5187 semapv:UnspecifiedMatching +OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:7161 semapv:UnspecifiedMatching +OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:MMP15 semapv:UnspecifiedMatching +OMIM:602261 MMP15 skos:exactMatch ncbigene:4324 semapv:UnspecifiedMatching +OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:7162 semapv:UnspecifiedMatching +OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:MMP16 semapv:UnspecifiedMatching +OMIM:602262 MMP16 skos:exactMatch ncbigene:4325 semapv:UnspecifiedMatching +OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:11251 semapv:UnspecifiedMatching +OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:SPOCK1 semapv:UnspecifiedMatching +OMIM:602264 SPOCK1 skos:exactMatch ncbigene:6695 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch UMLS:C1417664 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:7733 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:NEDD9 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch ncbigene:4739 semapv:UnspecifiedMatching +OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:215 semapv:UnspecifiedMatching +OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:ADAM8 semapv:UnspecifiedMatching +OMIM:602267 ADAM8 skos:exactMatch ncbigene:101 semapv:UnspecifiedMatching +OMIM:602268 AOC2 skos:exactMatch hgnc.symbol:549 semapv:UnspecifiedMatching +OMIM:602268 AOC2 skos:exactMatch hgnc.symbol:AOC2 semapv:UnspecifiedMatching +OMIM:602268 AOC2 skos:exactMatch ncbigene:314 semapv:UnspecifiedMatching +OMIM:602269 ARVCF skos:exactMatch UMLS:C1412567 semapv:UnspecifiedMatching +OMIM:602269 ARVCF skos:exactMatch hgnc.symbol:728 semapv:UnspecifiedMatching +OMIM:602269 ARVCF skos:exactMatch hgnc.symbol:ARVCF semapv:UnspecifiedMatching +OMIM:602269 ARVCF skos:exactMatch ncbigene:421 semapv:UnspecifiedMatching +OMIM:602270 ATOX1 skos:exactMatch hgnc.symbol:798 semapv:UnspecifiedMatching +OMIM:602270 ATOX1 skos:exactMatch hgnc.symbol:ATOX1 semapv:UnspecifiedMatching +OMIM:602270 ATOX1 skos:exactMatch ncbigene:475 semapv:UnspecifiedMatching +OMIM:602271 spondylometaphyseal dysplasia, axial skos:exactMatch MONDO:0011211 semapv:UnspecifiedMatching +OMIM:602272 TCF4 skos:exactMatch hgnc.symbol:11634 semapv:UnspecifiedMatching +OMIM:602272 TCF4 skos:exactMatch hgnc.symbol:TCF4 semapv:UnspecifiedMatching +OMIM:602272 TCF4 skos:exactMatch ncbigene:6925 semapv:UnspecifiedMatching +OMIM:602273 GALNT1 skos:exactMatch hgnc.symbol:4123 semapv:UnspecifiedMatching +OMIM:602273 GALNT1 skos:exactMatch hgnc.symbol:GALNT1 semapv:UnspecifiedMatching +OMIM:602273 GALNT1 skos:exactMatch ncbigene:2589 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch UMLS:C1414952 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:4124 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:GALNT2 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch ncbigene:2590 semapv:UnspecifiedMatching +OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:4679 semapv:UnspecifiedMatching +OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:GUCA1B semapv:UnspecifiedMatching +OMIM:602275 GUCA1B skos:exactMatch ncbigene:2979 semapv:UnspecifiedMatching +OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:11531 semapv:UnspecifiedMatching +OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:TADA2A semapv:UnspecifiedMatching +OMIM:602276 TADA2A skos:exactMatch ncbigene:6871 semapv:UnspecifiedMatching +OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:12975 semapv:UnspecifiedMatching +OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:ZNF184 semapv:UnspecifiedMatching +OMIM:602277 ZNF184 skos:exactMatch ncbigene:7738 semapv:UnspecifiedMatching +OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:7727 semapv:UnspecifiedMatching +OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:NEDD4 semapv:UnspecifiedMatching +OMIM:602278 NEDD4 skos:exactMatch ncbigene:4734 semapv:UnspecifiedMatching +OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:8565 semapv:UnspecifiedMatching +OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:PABPN1 semapv:UnspecifiedMatching +OMIM:602279 PABPN1 skos:exactMatch ncbigene:8106 semapv:UnspecifiedMatching +OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:12423 semapv:UnspecifiedMatching +OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:TULP1 semapv:UnspecifiedMatching +OMIM:602280 TULP1 skos:exactMatch ncbigene:7287 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch UMLS:C1334502 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:7036 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:MFGE8 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch ncbigene:4240 semapv:UnspecifiedMatching +OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:3166 semapv:UnspecifiedMatching +OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:LPAR1 semapv:UnspecifiedMatching +OMIM:602282 LPAR1 skos:exactMatch ncbigene:1902 semapv:UnspecifiedMatching +OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:10635 semapv:UnspecifiedMatching +OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:CCL8 semapv:UnspecifiedMatching +OMIM:602283 CCL8 skos:exactMatch ncbigene:6355 semapv:UnspecifiedMatching +OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:1075 semapv:UnspecifiedMatching +OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:BMP8B semapv:UnspecifiedMatching +OMIM:602284 BMP8B skos:exactMatch ncbigene:656 semapv:UnspecifiedMatching +OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:7163 semapv:UnspecifiedMatching +OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:MMP17 semapv:UnspecifiedMatching +OMIM:602285 MMP17 skos:exactMatch ncbigene:4326 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch UMLS:C1419827 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch hgnc.symbol:10547 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch hgnc.symbol:SC5D semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch ncbigene:6309 semapv:UnspecifiedMatching +OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:13799 semapv:UnspecifiedMatching +OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:ERP29 semapv:UnspecifiedMatching +OMIM:602287 ERP29 skos:exactMatch ncbigene:10961 semapv:UnspecifiedMatching +OMIM:602288 RTKN skos:exactMatch hgnc.symbol:10466 semapv:UnspecifiedMatching +OMIM:602288 RTKN skos:exactMatch hgnc.symbol:RTKN semapv:UnspecifiedMatching +OMIM:602288 RTKN skos:exactMatch ncbigene:6242 semapv:UnspecifiedMatching +OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:3019 semapv:UnspecifiedMatching +OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:DRAP1 semapv:UnspecifiedMatching +OMIM:602289 DRAP1 skos:exactMatch ncbigene:10589 semapv:UnspecifiedMatching +OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:16380 semapv:UnspecifiedMatching +OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:TRIM32 semapv:UnspecifiedMatching +OMIM:602290 TRIM32 skos:exactMatch ncbigene:22954 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch UMLS:C1414683 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231528 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231529 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:3816 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:FOXJ1 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch ncbigene:2302 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch UMLS:C1414247 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:3151 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:ECHS1 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch ncbigene:1892 semapv:UnspecifiedMatching +OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:16920 semapv:UnspecifiedMatching +OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:CIB1 semapv:UnspecifiedMatching +OMIM:602293 CIB1 skos:exactMatch ncbigene:10519 semapv:UnspecifiedMatching +OMIM:602294 FOXA1 skos:exactMatch UMLS:C1415626 semapv:UnspecifiedMatching +OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:5021 semapv:UnspecifiedMatching +OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:FOXA1 semapv:UnspecifiedMatching +OMIM:602294 FOXA1 skos:exactMatch ncbigene:3169 semapv:UnspecifiedMatching +OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:5023 semapv:UnspecifiedMatching +OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:FOXA3 semapv:UnspecifiedMatching +OMIM:602295 FOXA3 skos:exactMatch ncbigene:3171 semapv:UnspecifiedMatching +OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:574 semapv:UnspecifiedMatching +OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:AP4M1 semapv:UnspecifiedMatching +OMIM:602296 AP4M1 skos:exactMatch ncbigene:9179 semapv:UnspecifiedMatching +OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:3228 semapv:UnspecifiedMatching +OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:EFNB3 semapv:UnspecifiedMatching +OMIM:602297 EFNB3 skos:exactMatch ncbigene:1949 semapv:UnspecifiedMatching +OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:9788 semapv:UnspecifiedMatching +OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:RAB7A semapv:UnspecifiedMatching +OMIM:602298 RAB7 skos:exactMatch ncbigene:7879 semapv:UnspecifiedMatching +OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:24240 semapv:UnspecifiedMatching +OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:GAL3ST1 semapv:UnspecifiedMatching +OMIM:602300 GAL3ST1 skos:exactMatch ncbigene:9514 semapv:UnspecifiedMatching +OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:4201 semapv:UnspecifiedMatching +OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:KAT2A semapv:UnspecifiedMatching +OMIM:602301 KAT2A skos:exactMatch ncbigene:2648 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C1415713 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C1859592 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C1859877 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch hgnc.symbol:5172 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch hgnc.symbol:HR semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch ncbigene:55806 semapv:UnspecifiedMatching +OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:8638 semapv:UnspecifiedMatching +OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:KAT2B semapv:UnspecifiedMatching +OMIM:602303 KAT2B skos:exactMatch ncbigene:8850 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch UMLS:C1417822 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:7963 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:NR1D2 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch ncbigene:9975 semapv:UnspecifiedMatching +OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:9769 semapv:UnspecifiedMatching +OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:RGL2 semapv:UnspecifiedMatching +OMIM:602306 RGL2 skos:exactMatch ncbigene:5863 semapv:UnspecifiedMatching +OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:17004 semapv:UnspecifiedMatching +OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:WWP1 semapv:UnspecifiedMatching +OMIM:602307 WWP1 skos:exactMatch ncbigene:11059 semapv:UnspecifiedMatching +OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:16804 semapv:UnspecifiedMatching +OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:WWP2 semapv:UnspecifiedMatching +OMIM:602308 WWP2 skos:exactMatch ncbigene:11060 semapv:UnspecifiedMatching +OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:12424 semapv:UnspecifiedMatching +OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:TULP2 semapv:UnspecifiedMatching +OMIM:602309 TULP2 skos:exactMatch ncbigene:7288 semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch UMLS:C1419305 semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:9907 semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:RBMS1 semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch ncbigene:5937 semapv:UnspecifiedMatching +OMIM:602311 AGRP skos:exactMatch hgnc.symbol:330 semapv:UnspecifiedMatching +OMIM:602311 AGRP skos:exactMatch hgnc.symbol:AGRP semapv:UnspecifiedMatching +OMIM:602311 AGRP skos:exactMatch ncbigene:181 semapv:UnspecifiedMatching +OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:8525 semapv:UnspecifiedMatching +OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:OVOL1 semapv:UnspecifiedMatching +OMIM:602313 OVOL1 skos:exactMatch ncbigene:5017 semapv:UnspecifiedMatching +OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:6472 semapv:UnspecifiedMatching +OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:LAD1 semapv:UnspecifiedMatching +OMIM:602314 LAD1 skos:exactMatch ncbigene:3898 semapv:UnspecifiedMatching +OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:6843 semapv:UnspecifiedMatching +OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:MAP2K3 semapv:UnspecifiedMatching +OMIM:602315 MAP2K3 skos:exactMatch ncbigene:5606 semapv:UnspecifiedMatching +OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:16753 semapv:UnspecifiedMatching +OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:PRDX6 semapv:UnspecifiedMatching +OMIM:602316 PRDX6 skos:exactMatch ncbigene:9588 semapv:UnspecifiedMatching +OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:11353 semapv:UnspecifiedMatching +OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:STAC semapv:UnspecifiedMatching +OMIM:602317 STAC1 skos:exactMatch ncbigene:6769 semapv:UnspecifiedMatching +OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:21463 semapv:UnspecifiedMatching +OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:MTERF1 semapv:UnspecifiedMatching +OMIM:602318 MTERF1 skos:exactMatch ncbigene:7978 semapv:UnspecifiedMatching +OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:7750 semapv:UnspecifiedMatching +OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:NELL1 semapv:UnspecifiedMatching +OMIM:602319 NELL1 skos:exactMatch ncbigene:4745 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch UMLS:C1417677 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:7751 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:NELL2 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch ncbigene:4753 semapv:UnspecifiedMatching +OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:16906 semapv:UnspecifiedMatching +OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:GSTK1 semapv:UnspecifiedMatching +OMIM:602321 GSTK1 skos:exactMatch ncbigene:373156 semapv:UnspecifiedMatching +OMIM:602322 TERC skos:exactMatch hgnc.symbol:11727 semapv:UnspecifiedMatching +OMIM:602322 TERC skos:exactMatch hgnc.symbol:TERC semapv:UnspecifiedMatching +OMIM:602322 TERC skos:exactMatch ncbigene:7012 semapv:UnspecifiedMatching +OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:6258 semapv:UnspecifiedMatching +OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:KCNJ12 semapv:UnspecifiedMatching +OMIM:602323 KCNJ12 skos:exactMatch ncbigene:3768 semapv:UnspecifiedMatching +OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:5043 semapv:UnspecifiedMatching +OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:HNRNPH3 semapv:UnspecifiedMatching +OMIM:602324 HNRNPH3 skos:exactMatch ncbigene:3189 semapv:UnspecifiedMatching +OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:3297 semapv:UnspecifiedMatching +OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:EIF4G2 semapv:UnspecifiedMatching +OMIM:602325 EIF4G2 skos:exactMatch ncbigene:1982 semapv:UnspecifiedMatching +OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:10317 semapv:UnspecifiedMatching +OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:RPL23A semapv:UnspecifiedMatching +OMIM:602326 RPL23A skos:exactMatch ncbigene:6147 semapv:UnspecifiedMatching +OMIM:602327 PSD skos:exactMatch hgnc.symbol:9507 semapv:UnspecifiedMatching +OMIM:602327 PSD skos:exactMatch hgnc.symbol:PSD semapv:UnspecifiedMatching +OMIM:602327 PSD skos:exactMatch ncbigene:5662 semapv:UnspecifiedMatching +OMIM:602329 SEL1L skos:exactMatch UMLS:C1419939 semapv:UnspecifiedMatching +OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:10717 semapv:UnspecifiedMatching +OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:SEL1L semapv:UnspecifiedMatching +OMIM:602329 SEL1L skos:exactMatch ncbigene:6400 semapv:UnspecifiedMatching +OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:78 semapv:UnspecifiedMatching +OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:ABLIM1 semapv:UnspecifiedMatching +OMIM:602330 ABLIM1 skos:exactMatch ncbigene:3983 semapv:UnspecifiedMatching +OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:8491 semapv:UnspecifiedMatching +OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:ORC5 semapv:UnspecifiedMatching +OMIM:602331 ORC5 skos:exactMatch ncbigene:5001 semapv:UnspecifiedMatching +OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:1112 semapv:UnspecifiedMatching +OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:NCAPH semapv:UnspecifiedMatching +OMIM:602332 NCAPH skos:exactMatch ncbigene:23397 semapv:UnspecifiedMatching +OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:3333 semapv:UnspecifiedMatching +OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:EMP1 semapv:UnspecifiedMatching +OMIM:602333 EMP1 skos:exactMatch ncbigene:2012 semapv:UnspecifiedMatching +OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:3334 semapv:UnspecifiedMatching +OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:EMP2 semapv:UnspecifiedMatching +OMIM:602334 EMP2 skos:exactMatch ncbigene:2013 semapv:UnspecifiedMatching +OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:3335 semapv:UnspecifiedMatching +OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:EMP3 semapv:UnspecifiedMatching +OMIM:602335 EMP3 skos:exactMatch ncbigene:2014 semapv:UnspecifiedMatching +OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:10256 semapv:UnspecifiedMatching +OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:ROR1 semapv:UnspecifiedMatching +OMIM:602336 ROR1 skos:exactMatch ncbigene:4919 semapv:UnspecifiedMatching +OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:10257 semapv:UnspecifiedMatching +OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:ROR2 semapv:UnspecifiedMatching +OMIM:602337 ROR2 skos:exactMatch ncbigene:4920 semapv:UnspecifiedMatching +OMIM:602338 PRPF4B skos:exactMatch hgnc.symbol:PRP4K semapv:UnspecifiedMatching +OMIM:602338 PRPF4B skos:exactMatch ncbigene:8899 semapv:UnspecifiedMatching +OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:10921 semapv:UnspecifiedMatching +OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:SLC15A2 semapv:UnspecifiedMatching +OMIM:602339 SLC15A2 skos:exactMatch ncbigene:6565 semapv:UnspecifiedMatching +OMIM:602340 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch MONDO:0011212 semapv:UnspecifiedMatching +OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:3818 semapv:UnspecifiedMatching +OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:FOXM1 semapv:UnspecifiedMatching +OMIM:602341 FOXM1 skos:exactMatch ncbigene:2305 semapv:UnspecifiedMatching +OMIM:602342 pierpont syndrome skos:exactMatch MONDO:0011213 semapv:UnspecifiedMatching +OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:12333 semapv:UnspecifiedMatching +OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:TRPC1 semapv:UnspecifiedMatching +OMIM:602343 TRPC1 skos:exactMatch ncbigene:7220 semapv:UnspecifiedMatching +OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:8579 semapv:UnspecifiedMatching +OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:PAFAH2 semapv:UnspecifiedMatching +OMIM:602344 PAFAH2 skos:exactMatch ncbigene:5051 semapv:UnspecifiedMatching +OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:12335 semapv:UnspecifiedMatching +OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:TRPC3 semapv:UnspecifiedMatching +OMIM:602345 TRPC3 skos:exactMatch ncbigene:7222 semapv:UnspecifiedMatching +OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:8011 semapv:UnspecifiedMatching +OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:CNTNAP1 semapv:UnspecifiedMatching +OMIM:602346 CNTNAP1 skos:exactMatch ncbigene:8506 semapv:UnspecifiedMatching +OMIM:602347 cholestasis, progressive familial intrahepatic, 3 skos:exactMatch MONDO:0011214 semapv:UnspecifiedMatching +OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:11136 semapv:UnspecifiedMatching +OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:SNAPC3 semapv:UnspecifiedMatching +OMIM:602348 SNAPC3 skos:exactMatch ncbigene:6619 semapv:UnspecifiedMatching +OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:8030 semapv:UnspecifiedMatching +OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:NTN3 semapv:UnspecifiedMatching +OMIM:602349 NTN3 skos:exactMatch ncbigene:4917 semapv:UnspecifiedMatching +OMIM:602350 NRGN skos:exactMatch hgnc.symbol:8000 semapv:UnspecifiedMatching +OMIM:602350 NRGN skos:exactMatch hgnc.symbol:NRGN semapv:UnspecifiedMatching +OMIM:602350 NRGN skos:exactMatch ncbigene:4900 semapv:UnspecifiedMatching +OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:2121 semapv:UnspecifiedMatching +OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:CMKLR1 semapv:UnspecifiedMatching +OMIM:602351 CMKLR1 skos:exactMatch ncbigene:1240 semapv:UnspecifiedMatching +OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:4420 semapv:UnspecifiedMatching +OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:GNRH2 semapv:UnspecifiedMatching +OMIM:602352 GNRH2 skos:exactMatch ncbigene:2797 semapv:UnspecifiedMatching +OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:11767 semapv:UnspecifiedMatching +OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:TGFB1I1 semapv:UnspecifiedMatching +OMIM:602353 TGFB1I1 skos:exactMatch ncbigene:7041 semapv:UnspecifiedMatching +OMIM:602354 LAT skos:exactMatch hgnc.symbol:18874 semapv:UnspecifiedMatching +OMIM:602354 LAT skos:exactMatch hgnc.symbol:LAT semapv:UnspecifiedMatching +OMIM:602354 LAT skos:exactMatch ncbigene:27040 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch UMLS:C1336666 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:12036 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:TRAF6 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch ncbigene:7189 semapv:UnspecifiedMatching +OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:12035 semapv:UnspecifiedMatching +OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:TRAF5 semapv:UnspecifiedMatching +OMIM:602356 TRAF5 skos:exactMatch ncbigene:7188 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch UMLS:C1823857 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:12736 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:WIPF1 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch ncbigene:7456 semapv:UnspecifiedMatching +OMIM:602358 HCRT skos:exactMatch hgnc.symbol:4847 semapv:UnspecifiedMatching +OMIM:602358 HCRT skos:exactMatch hgnc.symbol:HCRT semapv:UnspecifiedMatching +OMIM:602358 HCRT skos:exactMatch ncbigene:3060 semapv:UnspecifiedMatching +OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:4025 semapv:UnspecifiedMatching +OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:FXYD1 semapv:UnspecifiedMatching +OMIM:602359 FXYD1 skos:exactMatch ncbigene:5348 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch UMLS:C1414997 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch UMLS:C2675179 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch hgnc.symbol:4175 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch hgnc.symbol:GATM semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch ncbigene:2628 semapv:UnspecifiedMatching +OMIM:602361 gracile bone dysplasia skos:exactMatch MONDO:0011215 semapv:UnspecifiedMatching +OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:9854 semapv:UnspecifiedMatching +OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:RANGAP1 semapv:UnspecifiedMatching +OMIM:602362 RANGAP1 skos:exactMatch ncbigene:5905 semapv:UnspecifiedMatching +OMIM:602364 CTSW skos:exactMatch hgnc.symbol:2546 semapv:UnspecifiedMatching +OMIM:602364 CTSW skos:exactMatch hgnc.symbol:CTSW semapv:UnspecifiedMatching +OMIM:602364 CTSW skos:exactMatch ncbigene:1521 semapv:UnspecifiedMatching +OMIM:602365 CTSC skos:exactMatch hgnc.symbol:2528 semapv:UnspecifiedMatching +OMIM:602365 CTSC skos:exactMatch hgnc.symbol:CTSC semapv:UnspecifiedMatching +OMIM:602365 CTSC skos:exactMatch ncbigene:1075 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch UMLS:C1334128 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch hgnc.symbol:6040 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch hgnc.symbol:ILK semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch ncbigene:3611 semapv:UnspecifiedMatching +OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:7952 semapv:UnspecifiedMatching +OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:NPTX1 semapv:UnspecifiedMatching +OMIM:602367 NPTX1 skos:exactMatch ncbigene:4884 semapv:UnspecifiedMatching +OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:4576 semapv:UnspecifiedMatching +OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:GRID2 semapv:UnspecifiedMatching +OMIM:602368 GRID2 skos:exactMatch ncbigene:2895 semapv:UnspecifiedMatching +OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:2654 semapv:UnspecifiedMatching +OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:CCN1 semapv:UnspecifiedMatching +OMIM:602369 CCN1 skos:exactMatch ncbigene:3491 semapv:UnspecifiedMatching +OMIM:602370 GML skos:exactMatch hgnc.symbol:4375 semapv:UnspecifiedMatching +OMIM:602370 GML skos:exactMatch hgnc.symbol:GML semapv:UnspecifiedMatching +OMIM:602370 GML skos:exactMatch ncbigene:2765 semapv:UnspecifiedMatching +OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:3570 semapv:UnspecifiedMatching +OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:ACSL3 semapv:UnspecifiedMatching +OMIM:602371 ACSL3 skos:exactMatch ncbigene:2181 semapv:UnspecifiedMatching +OMIM:602372 ZAN skos:exactMatch hgnc.symbol:12857 semapv:UnspecifiedMatching +OMIM:602372 ZAN skos:exactMatch hgnc.symbol:ZAN semapv:UnspecifiedMatching +OMIM:602372 ZAN skos:exactMatch ncbigene:7455 semapv:UnspecifiedMatching +OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:2156 semapv:UnspecifiedMatching +OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:CNN2 semapv:UnspecifiedMatching +OMIM:602373 CNN2 skos:exactMatch ncbigene:1265 semapv:UnspecifiedMatching +OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:2157 semapv:UnspecifiedMatching +OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:CNN3 semapv:UnspecifiedMatching +OMIM:602374 CNN3 skos:exactMatch ncbigene:1266 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch UMLS:C1419694 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:10378 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:MRPL12 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch ncbigene:6182 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1334082 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch UMLS:C4225252 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:5433 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:IFNAR2 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch ncbigene:3455 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch UMLS:C1414118 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:2972 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:DNM1 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch ncbigene:1759 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch UMLS:C1414120 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch UMLS:C1847902 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch UMLS:C4551952 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:2974 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:DNM2 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch ncbigene:1785 semapv:UnspecifiedMatching +OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:12578 semapv:UnspecifiedMatching +OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:UPK1B semapv:UnspecifiedMatching +OMIM:602380 UPK1B skos:exactMatch ncbigene:7348 semapv:UnspecifiedMatching +OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:7627 semapv:UnspecifiedMatching +OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:NAB2 semapv:UnspecifiedMatching +OMIM:602381 NAB2 skos:exactMatch ncbigene:4665 semapv:UnspecifiedMatching +OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:9067 semapv:UnspecifiedMatching +OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:PLD1 semapv:UnspecifiedMatching +OMIM:602382 PLD1 skos:exactMatch ncbigene:5337 semapv:UnspecifiedMatching +OMIM:602383 OGN skos:exactMatch hgnc.symbol:8126 semapv:UnspecifiedMatching +OMIM:602383 OGN skos:exactMatch hgnc.symbol:OGN semapv:UnspecifiedMatching +OMIM:602383 OGN skos:exactMatch ncbigene:4969 semapv:UnspecifiedMatching +OMIM:602384 PLD2 skos:exactMatch hgnc.symbol:9068 semapv:UnspecifiedMatching +OMIM:602384 PLD2 skos:exactMatch hgnc.symbol:PLD2 semapv:UnspecifiedMatching +OMIM:602384 PLD2 skos:exactMatch ncbigene:5338 semapv:UnspecifiedMatching +OMIM:602385 SULT1C2 skos:exactMatch hgnc.symbol:11456 semapv:UnspecifiedMatching +OMIM:602385 SULT1C2 skos:exactMatch hgnc.symbol:SULT1C2 semapv:UnspecifiedMatching +OMIM:602385 SULT1C2 skos:exactMatch ncbigene:6819 semapv:UnspecifiedMatching +OMIM:602386 ZNF212 skos:exactMatch hgnc.symbol:13004 semapv:UnspecifiedMatching +OMIM:602386 ZNF212 skos:exactMatch hgnc.symbol:ZNF212 semapv:UnspecifiedMatching +OMIM:602386 ZNF212 skos:exactMatch ncbigene:7988 semapv:UnspecifiedMatching +OMIM:602387 RBMS2 skos:exactMatch hgnc.symbol:9909 semapv:UnspecifiedMatching +OMIM:602387 RBMS2 skos:exactMatch hgnc.symbol:RBMS2 semapv:UnspecifiedMatching +OMIM:602387 RBMS2 skos:exactMatch ncbigene:5939 semapv:UnspecifiedMatching +OMIM:602388 SYMPK skos:exactMatch hgnc.symbol:22935 semapv:UnspecifiedMatching +OMIM:602388 SYMPK skos:exactMatch hgnc.symbol:SYMPK semapv:UnspecifiedMatching +OMIM:602388 SYMPK skos:exactMatch ncbigene:8189 semapv:UnspecifiedMatching +OMIM:602389 TUFM skos:exactMatch hgnc.symbol:12420 semapv:UnspecifiedMatching +OMIM:602389 TUFM skos:exactMatch hgnc.symbol:TUFM semapv:UnspecifiedMatching +OMIM:602389 TUFM skos:exactMatch ncbigene:7284 semapv:UnspecifiedMatching +OMIM:602390 hemochromatosis, iia 2a skos:exactMatch MONDO:0011216 semapv:UnspecifiedMatching +OMIM:602391 PEMT skos:exactMatch hgnc.symbol:8830 semapv:UnspecifiedMatching +OMIM:602391 PEMT skos:exactMatch hgnc.symbol:PEMT semapv:UnspecifiedMatching +OMIM:602391 PEMT skos:exactMatch ncbigene:10400 semapv:UnspecifiedMatching +OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:4848 semapv:UnspecifiedMatching +OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:HCRTR1 semapv:UnspecifiedMatching +OMIM:602392 HCRTR1 skos:exactMatch ncbigene:3061 semapv:UnspecifiedMatching +OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:4849 semapv:UnspecifiedMatching +OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:HCRTR2 semapv:UnspecifiedMatching +OMIM:602393 HCRTR2 skos:exactMatch ncbigene:3062 semapv:UnspecifiedMatching +OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:15608 semapv:UnspecifiedMatching +OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:NOLC1 semapv:UnspecifiedMatching +OMIM:602394 NOLC1 skos:exactMatch ncbigene:9221 semapv:UnspecifiedMatching +OMIM:602395 GPAM skos:exactMatch hgnc.symbol:24865 semapv:UnspecifiedMatching +OMIM:602395 GPAM skos:exactMatch hgnc.symbol:GPAM semapv:UnspecifiedMatching +OMIM:602395 GPAM skos:exactMatch ncbigene:57678 semapv:UnspecifiedMatching +OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:546 semapv:UnspecifiedMatching +OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:ANXA8 semapv:UnspecifiedMatching +OMIM:602396 ANXA8 skos:exactMatch ncbigene:653145 semapv:UnspecifiedMatching +OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:3706 semapv:UnspecifiedMatching +OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:ATP8B1 semapv:UnspecifiedMatching +OMIM:602397 ATP8B1 skos:exactMatch ncbigene:5205 semapv:UnspecifiedMatching +OMIM:602398 desmosterolosis skos:exactMatch MONDO:0011217 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch UMLS:C1366897 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:6874 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:MAPK12 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch ncbigene:6300 semapv:UnspecifiedMatching +OMIM:602400 ichthyosis, congenital, autosomal recessive 11 skos:exactMatch MONDO:0011218 semapv:UnspecifiedMatching +OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail iia skos:exactMatch MONDO:0011219 semapv:UnspecifiedMatching +OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:3801 semapv:UnspecifiedMatching +OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:FOXC2 semapv:UnspecifiedMatching +OMIM:602402 FOXC2 skos:exactMatch ncbigene:2303 semapv:UnspecifiedMatching +OMIM:602403 BLMH skos:exactMatch hgnc.symbol:1059 semapv:UnspecifiedMatching +OMIM:602403 BLMH skos:exactMatch hgnc.symbol:BLMH semapv:UnspecifiedMatching +OMIM:602403 BLMH skos:exactMatch ncbigene:642 semapv:UnspecifiedMatching +OMIM:602404 parkinson disease 3, autosomal dominant skos:exactMatch MONDO:0011220 semapv:UnspecifiedMatching +OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:4807 semapv:UnspecifiedMatching +OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:HAND1 semapv:UnspecifiedMatching +OMIM:602406 HAND1 skos:exactMatch ncbigene:9421 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch UMLS:C1415467 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:4808 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:HAND2 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch ncbigene:9464 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch UMLS:C1417821 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:7962 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:NR1D1 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch ncbigene:9572 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch UMLS:C1423947 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:16063 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:MLLT10 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch ncbigene:8028 semapv:UnspecifiedMatching +OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:14255 semapv:UnspecifiedMatching +OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:BRPF1 semapv:UnspecifiedMatching +OMIM:602410 BRPF1 skos:exactMatch ncbigene:7862 semapv:UnspecifiedMatching +OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:3516 semapv:UnspecifiedMatching +OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:EXTL2 semapv:UnspecifiedMatching +OMIM:602411 EXTL2 skos:exactMatch ncbigene:2135 semapv:UnspecifiedMatching +OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:10411 semapv:UnspecifiedMatching +OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:RPS24 semapv:UnspecifiedMatching +OMIM:602412 RPS24 skos:exactMatch ncbigene:6229 semapv:UnspecifiedMatching +OMIM:602413 SDHC skos:exactMatch hgnc.symbol:10682 semapv:UnspecifiedMatching +OMIM:602413 SDHC skos:exactMatch hgnc.symbol:SDHC semapv:UnspecifiedMatching +OMIM:602413 SDHC skos:exactMatch ncbigene:6391 semapv:UnspecifiedMatching +OMIM:602414 APBA1 skos:exactMatch UMLS:C1412456 semapv:UnspecifiedMatching +OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:578 semapv:UnspecifiedMatching +OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:APBA1 semapv:UnspecifiedMatching +OMIM:602414 APBA1 skos:exactMatch ncbigene:320 semapv:UnspecifiedMatching +OMIM:602415 DTNB skos:exactMatch hgnc.symbol:3058 semapv:UnspecifiedMatching +OMIM:602415 DTNB skos:exactMatch hgnc.symbol:DTNB semapv:UnspecifiedMatching +OMIM:602415 DTNB skos:exactMatch ncbigene:1838 semapv:UnspecifiedMatching +OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:571 semapv:UnspecifiedMatching +OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:AP3S2 semapv:UnspecifiedMatching +OMIM:602416 AP3S2 skos:exactMatch ncbigene:10239 semapv:UnspecifiedMatching +OMIM:602418 weyers ulnar ray/oligodactyly syndrome skos:exactMatch MONDO:0011221 semapv:UnspecifiedMatching +OMIM:602418 weyers ulnar ray/oligodactyly syndrome skos:exactMatch UMLS:C1865566 semapv:UnspecifiedMatching +OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:3240 semapv:UnspecifiedMatching +OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:EGR3 semapv:UnspecifiedMatching +OMIM:602419 EGR3 skos:exactMatch ncbigene:1960 semapv:UnspecifiedMatching +OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:6219 semapv:UnspecifiedMatching +OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:KCNA10 semapv:UnspecifiedMatching +OMIM:602420 KCNA10 skos:exactMatch ncbigene:3744 semapv:UnspecifiedMatching +OMIM:602421 CFTR skos:exactMatch hgnc.symbol:1884 semapv:UnspecifiedMatching +OMIM:602421 CFTR skos:exactMatch hgnc.symbol:CFTR semapv:UnspecifiedMatching +OMIM:602421 CFTR skos:exactMatch ncbigene:1080 semapv:UnspecifiedMatching +OMIM:602422 SLBP skos:exactMatch hgnc.symbol:10904 semapv:UnspecifiedMatching +OMIM:602422 SLBP skos:exactMatch hgnc.symbol:SLBP semapv:UnspecifiedMatching +OMIM:602422 SLBP skos:exactMatch ncbigene:7884 semapv:UnspecifiedMatching +OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:7966 semapv:UnspecifiedMatching +OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:NR1H3 semapv:UnspecifiedMatching +OMIM:602423 NR1H3 skos:exactMatch ncbigene:10062 semapv:UnspecifiedMatching +OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:2934 semapv:UnspecifiedMatching +OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:DMRT1 semapv:UnspecifiedMatching +OMIM:602424 DMRT1 skos:exactMatch ncbigene:1761 semapv:UnspecifiedMatching +OMIM:602425 MAP3K4 skos:exactMatch hgnc.symbol:6856 semapv:UnspecifiedMatching +OMIM:602425 MAP3K4 skos:exactMatch hgnc.symbol:MAP3K4 semapv:UnspecifiedMatching +OMIM:602425 MAP3K4 skos:exactMatch ncbigene:4216 semapv:UnspecifiedMatching +OMIM:602426 NVL skos:exactMatch hgnc.symbol:8070 semapv:UnspecifiedMatching +OMIM:602426 NVL skos:exactMatch hgnc.symbol:NVL semapv:UnspecifiedMatching +OMIM:602426 NVL skos:exactMatch ncbigene:4931 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch UMLS:C1420616 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch hgnc.symbol:11605 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch hgnc.symbol:TBX6 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch ncbigene:6911 semapv:UnspecifiedMatching +OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:4820 semapv:UnspecifiedMatching +OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:HAS3 semapv:UnspecifiedMatching +OMIM:602428 HAS3 skos:exactMatch ncbigene:3038 semapv:UnspecifiedMatching +OMIM:602429 glaucoma 1, open angle, d skos:exactMatch MONDO:0011222 semapv:UnspecifiedMatching +OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:10249 semapv:UnspecifiedMatching +OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:ROBO1 semapv:UnspecifiedMatching +OMIM:602430 ROBO1 skos:exactMatch ncbigene:6091 semapv:UnspecifiedMatching +OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:10250 semapv:UnspecifiedMatching +OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:ROBO2 semapv:UnspecifiedMatching +OMIM:602431 ROBO2 skos:exactMatch ncbigene:6092 semapv:UnspecifiedMatching +OMIM:602432 OPTN skos:exactMatch hgnc.symbol:17142 semapv:UnspecifiedMatching +OMIM:602432 OPTN skos:exactMatch hgnc.symbol:OPTN semapv:UnspecifiedMatching +OMIM:602432 OPTN skos:exactMatch ncbigene:10133 semapv:UnspecifiedMatching +OMIM:602433 amyotrophic lateral sclerosis 4, juvenile skos:exactMatch MONDO:0011223 semapv:UnspecifiedMatching +OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:891 semapv:UnspecifiedMatching +OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:AUP1 semapv:UnspecifiedMatching +OMIM:602434 AUP1 skos:exactMatch ncbigene:550 semapv:UnspecifiedMatching +OMIM:602435 PPIE skos:exactMatch hgnc.symbol:9258 semapv:UnspecifiedMatching +OMIM:602435 PPIE skos:exactMatch hgnc.symbol:PPIE semapv:UnspecifiedMatching +OMIM:602435 PPIE skos:exactMatch ncbigene:10450 semapv:UnspecifiedMatching +OMIM:602436 MICB skos:exactMatch hgnc.symbol:7091 semapv:UnspecifiedMatching +OMIM:602436 MICB skos:exactMatch hgnc.symbol:MICB semapv:UnspecifiedMatching +OMIM:602436 MICB skos:exactMatch ncbigene:4277 semapv:UnspecifiedMatching +OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:4194 semapv:UnspecifiedMatching +OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:GCHFR semapv:UnspecifiedMatching +OMIM:602437 GCHFR skos:exactMatch ncbigene:2644 semapv:UnspecifiedMatching +OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:5227 semapv:UnspecifiedMatching +OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:HSF4 semapv:UnspecifiedMatching +OMIM:602438 HSF4 skos:exactMatch ncbigene:3299 semapv:UnspecifiedMatching +OMIM:602440 amyotrophy, monomelic skos:exactMatch MONDO:0011224 semapv:UnspecifiedMatching +OMIM:602441 CISH skos:exactMatch hgnc.symbol:1984 semapv:UnspecifiedMatching +OMIM:602441 CISH skos:exactMatch hgnc.symbol:CISH semapv:UnspecifiedMatching +OMIM:602441 CISH skos:exactMatch ncbigene:1154 semapv:UnspecifiedMatching +OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:6183 semapv:UnspecifiedMatching +OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:ITSN1 semapv:UnspecifiedMatching +OMIM:602442 ITSN1 skos:exactMatch ncbigene:6453 semapv:UnspecifiedMatching +OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:12822 semapv:UnspecifiedMatching +OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:XPNPEP1 semapv:UnspecifiedMatching +OMIM:602443 XPNPEP1 skos:exactMatch ncbigene:7511 semapv:UnspecifiedMatching +OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:11628 semapv:UnspecifiedMatching +OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:ZNF354A semapv:UnspecifiedMatching +OMIM:602444 ZNF354A skos:exactMatch ncbigene:6940 semapv:UnspecifiedMatching +OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:8943 semapv:UnspecifiedMatching +OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:SERPINI1 semapv:UnspecifiedMatching +OMIM:602445 SERPINI1 skos:exactMatch ncbigene:5274 semapv:UnspecifiedMatching +OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:4453 semapv:UnspecifiedMatching +OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:GPC5 semapv:UnspecifiedMatching +OMIM:602446 GPC5 skos:exactMatch ncbigene:2262 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch UMLS:C1418755 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch UMLS:C4016795 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch hgnc.symbol:9205 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch hgnc.symbol:PON2 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch ncbigene:5445 semapv:UnspecifiedMatching +OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:6857 semapv:UnspecifiedMatching +OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:MAP3K5 semapv:UnspecifiedMatching +OMIM:602448 MAP3K5 skos:exactMatch ncbigene:4217 semapv:UnspecifiedMatching +OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:367 semapv:UnspecifiedMatching +OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:AKAP1 semapv:UnspecifiedMatching +OMIM:602449 AKAP1 skos:exactMatch ncbigene:8165 semapv:UnspecifiedMatching +OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation skos:exactMatch MONDO:0011225 semapv:UnspecifiedMatching +OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:8543 semapv:UnspecifiedMatching +OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:P2RY6 semapv:UnspecifiedMatching +OMIM:602451 P2RY6 skos:exactMatch ncbigene:5031 semapv:UnspecifiedMatching +OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:1148 semapv:UnspecifiedMatching +OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:BUB1 semapv:UnspecifiedMatching +OMIM:602452 BUB1 skos:exactMatch ncbigene:699 semapv:UnspecifiedMatching +OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:6146 semapv:UnspecifiedMatching +OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:ITGAD semapv:UnspecifiedMatching +OMIM:602453 ITGAD skos:exactMatch ncbigene:3681 semapv:UnspecifiedMatching +OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:9683 semapv:UnspecifiedMatching +OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:PTPRU semapv:UnspecifiedMatching +OMIM:602454 PTPRU skos:exactMatch ncbigene:10076 semapv:UnspecifiedMatching +OMIM:602457 FADD skos:exactMatch hgnc.symbol:3573 semapv:UnspecifiedMatching +OMIM:602457 FADD skos:exactMatch hgnc.symbol:FADD semapv:UnspecifiedMatching +OMIM:602457 FADD skos:exactMatch ncbigene:8772 semapv:UnspecifiedMatching +OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:11186 semapv:UnspecifiedMatching +OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:SORT1 semapv:UnspecifiedMatching +OMIM:602458 SORT1 skos:exactMatch ncbigene:6272 semapv:UnspecifiedMatching +OMIM:602459 deafness, autosomal dominant 15 skos:exactMatch MONDO:0011226 semapv:UnspecifiedMatching +OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:9220 semapv:UnspecifiedMatching +OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:POU4F3 semapv:UnspecifiedMatching +OMIM:602460 POU4F3 skos:exactMatch ncbigene:5459 semapv:UnspecifiedMatching +OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:9662 semapv:UnspecifiedMatching +OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:SIRPA semapv:UnspecifiedMatching +OMIM:602461 PTPNS1 skos:exactMatch ncbigene:140885 semapv:UnspecifiedMatching +OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:2365 semapv:UnspecifiedMatching +OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:CRMP1 semapv:UnspecifiedMatching +OMIM:602462 CRMP1 skos:exactMatch ncbigene:1400 semapv:UnspecifiedMatching +OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:3014 semapv:UnspecifiedMatching +OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:DPYSL2 semapv:UnspecifiedMatching +OMIM:602463 DPYSL2 skos:exactMatch ncbigene:1808 semapv:UnspecifiedMatching +OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:12034 semapv:UnspecifiedMatching +OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:TRAF4 semapv:UnspecifiedMatching +OMIM:602464 TRAF4 skos:exactMatch ncbigene:9618 semapv:UnspecifiedMatching +OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:11269 semapv:UnspecifiedMatching +OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:SPRY1 semapv:UnspecifiedMatching +OMIM:602465 SPRY1 skos:exactMatch ncbigene:10252 semapv:UnspecifiedMatching +OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:11270 semapv:UnspecifiedMatching +OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:SPRY2 semapv:UnspecifiedMatching +OMIM:602466 SPRY2 skos:exactMatch ncbigene:10253 semapv:UnspecifiedMatching +OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:14946 semapv:UnspecifiedMatching +OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:PPP1R9A semapv:UnspecifiedMatching +OMIM:602468 PPP1R9A skos:exactMatch ncbigene:55607 semapv:UnspecifiedMatching +OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:3795 semapv:UnspecifiedMatching +OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:FOLR3 semapv:UnspecifiedMatching +OMIM:602469 FOLR3 skos:exactMatch ncbigene:2352 semapv:UnspecifiedMatching +OMIM:602470 PSCA skos:exactMatch hgnc.symbol:9500 semapv:UnspecifiedMatching +OMIM:602470 PSCA skos:exactMatch hgnc.symbol:PSCA semapv:UnspecifiedMatching +OMIM:602470 PSCA skos:exactMatch ncbigene:8000 semapv:UnspecifiedMatching +OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities skos:exactMatch MONDO:0011227 semapv:UnspecifiedMatching +OMIM:602472 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch MONDO:0011228 semapv:UnspecifiedMatching +OMIM:602473 encephalopathy, ethylmalonic skos:exactMatch MONDO:0011229 semapv:UnspecifiedMatching +OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:29650 semapv:UnspecifiedMatching +OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:PKMYT1 semapv:UnspecifiedMatching +OMIM:602474 PKMYT1 skos:exactMatch ncbigene:9088 semapv:UnspecifiedMatching +OMIM:602475 ossification of the posterior longitudinal ligament of spine skos:exactMatch MONDO:0011230 semapv:UnspecifiedMatching +OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 skos:exactMatch MONDO:0100519 semapv:UnspecifiedMatching +OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:2977 semapv:UnspecifiedMatching +OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:TRDMT1 semapv:UnspecifiedMatching +OMIM:602478 TRDMT1 skos:exactMatch ncbigene:1787 semapv:UnspecifiedMatching +OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:9214 semapv:UnspecifiedMatching +OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:POU3F1 semapv:UnspecifiedMatching +OMIM:602479 POU3F1 skos:exactMatch ncbigene:5453 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch UMLS:C1418763 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch UMLS:C5231424 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:9216 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:POU3F3 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch ncbigene:5455 semapv:UnspecifiedMatching +OMIM:602481 migraine, familial hemiplegic, 2 skos:exactMatch MONDO:0011232 semapv:UnspecifiedMatching +OMIM:602482 axenfeld-rieger syndrome, iia 3 skos:exactMatch MONDO:0011233 semapv:UnspecifiedMatching +OMIM:602483 auriculocondylar syndrome 1 skos:exactMatch MONDO:0011234 semapv:UnspecifiedMatching +OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis skos:exactMatch MONDO:0011235 semapv:UnspecifiedMatching +OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 skos:exactMatch MONDO:0011236 semapv:UnspecifiedMatching +OMIM:602486 POP1 skos:exactMatch hgnc.symbol:30129 semapv:UnspecifiedMatching +OMIM:602486 POP1 skos:exactMatch hgnc.symbol:POP1 semapv:UnspecifiedMatching +OMIM:602486 POP1 skos:exactMatch ncbigene:10940 semapv:UnspecifiedMatching +OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:16897 semapv:UnspecifiedMatching +OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:RIDA semapv:UnspecifiedMatching +OMIM:602487 HRSP12 skos:exactMatch ncbigene:10247 semapv:UnspecifiedMatching +OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:9502 semapv:UnspecifiedMatching +OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:CYTH2 semapv:UnspecifiedMatching +OMIM:602488 CYTH2 skos:exactMatch ncbigene:9266 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch UMLS:C1425322 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:18116 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:KHDRBS1 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch ncbigene:10657 semapv:UnspecifiedMatching +OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:8001 semapv:UnspecifiedMatching +OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:NRIP1 semapv:UnspecifiedMatching +OMIM:602490 NRIP1 skos:exactMatch ncbigene:8204 semapv:UnspecifiedMatching +OMIM:602491 hyperlipidemia, familial combined, 1 skos:exactMatch MONDO:0011237 semapv:UnspecifiedMatching +OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:9692 semapv:UnspecifiedMatching +OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:PTX3 semapv:UnspecifiedMatching +OMIM:602492 PTX3 skos:exactMatch ncbigene:5806 semapv:UnspecifiedMatching +OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:12640 semapv:UnspecifiedMatching +OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:UVRAG semapv:UnspecifiedMatching +OMIM:602493 UVRAG skos:exactMatch ncbigene:7405 semapv:UnspecifiedMatching +OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:10622 semapv:UnspecifiedMatching +OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:CCL23 semapv:UnspecifiedMatching +OMIM:602494 CCL23 skos:exactMatch ncbigene:6368 semapv:UnspecifiedMatching +OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:10623 semapv:UnspecifiedMatching +OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:CCL24 semapv:UnspecifiedMatching +OMIM:602495 CCL24 skos:exactMatch ncbigene:6369 semapv:UnspecifiedMatching +OMIM:602496 MPST skos:exactMatch hgnc.symbol:7223 semapv:UnspecifiedMatching +OMIM:602496 MPST skos:exactMatch hgnc.symbol:MPST semapv:UnspecifiedMatching +OMIM:602496 MPST skos:exactMatch ncbigene:4357 semapv:UnspecifiedMatching +OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch MONDO:0011238 semapv:UnspecifiedMatching +OMIM:602498 TFG skos:exactMatch hgnc.symbol:11758 semapv:UnspecifiedMatching +OMIM:602498 TFG skos:exactMatch hgnc.symbol:TFG semapv:UnspecifiedMatching +OMIM:602498 TFG skos:exactMatch ncbigene:10342 semapv:UnspecifiedMatching +OMIM:602499 macrophthalmia, colobomatous, with microcornea skos:exactMatch MONDO:0011239 semapv:UnspecifiedMatching +OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:4429 semapv:UnspecifiedMatching +OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:GOLGB1 semapv:UnspecifiedMatching +OMIM:602500 GOLGB1 skos:exactMatch ncbigene:2804 semapv:UnspecifiedMatching +OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch MONDO:0011240 semapv:UnspecifiedMatching +OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 semapv:UnspecifiedMatching +OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch UMLS:C1865285 semapv:UnspecifiedMatching +OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:4424 semapv:UnspecifiedMatching +OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:GOLGA1 semapv:UnspecifiedMatching +OMIM:602502 GOLGA1 skos:exactMatch ncbigene:2800 semapv:UnspecifiedMatching +OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:3944 semapv:UnspecifiedMatching +OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:FRAT1 semapv:UnspecifiedMatching +OMIM:602503 FRAT1 skos:exactMatch ncbigene:10023 semapv:UnspecifiedMatching +OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:10854 semapv:UnspecifiedMatching +OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:SHOX2 semapv:UnspecifiedMatching +OMIM:602504 SHOX2 skos:exactMatch ncbigene:6474 semapv:UnspecifiedMatching +OMIM:602505 PXN skos:exactMatch hgnc.symbol:9718 semapv:UnspecifiedMatching +OMIM:602505 PXN skos:exactMatch hgnc.symbol:PXN semapv:UnspecifiedMatching +OMIM:602505 PXN skos:exactMatch ncbigene:5829 semapv:UnspecifiedMatching +OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:12859 semapv:UnspecifiedMatching +OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:RNF103 semapv:UnspecifiedMatching +OMIM:602507 RNF103 skos:exactMatch ncbigene:7844 semapv:UnspecifiedMatching +OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:8575 semapv:UnspecifiedMatching +OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:PAFAH1B2 semapv:UnspecifiedMatching +OMIM:602508 PAFAH1B2 skos:exactMatch ncbigene:5049 semapv:UnspecifiedMatching +OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:4427 semapv:UnspecifiedMatching +OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:GOLGA4 semapv:UnspecifiedMatching +OMIM:602509 GOLGA4 skos:exactMatch ncbigene:2803 semapv:UnspecifiedMatching +OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:9672 semapv:UnspecifiedMatching +OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:PTPRH semapv:UnspecifiedMatching +OMIM:602510 PTPRH skos:exactMatch ncbigene:5794 semapv:UnspecifiedMatching +OMIM:602511 pseudoacromegaly with severe insulin resistance skos:exactMatch MONDO:0011241 semapv:UnspecifiedMatching +OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:9994 semapv:UnspecifiedMatching +OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:RGS12 semapv:UnspecifiedMatching +OMIM:602512 RGS12 skos:exactMatch ncbigene:6002 semapv:UnspecifiedMatching +OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:9996 semapv:UnspecifiedMatching +OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:RGS14 semapv:UnspecifiedMatching +OMIM:602513 RGS14 skos:exactMatch ncbigene:10636 semapv:UnspecifiedMatching +OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:9997 semapv:UnspecifiedMatching +OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:RGS16 semapv:UnspecifiedMatching +OMIM:602514 RGS16 skos:exactMatch ncbigene:6004 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch UMLS:C1415202 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:4459 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:GPLD1 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch ncbigene:2822 semapv:UnspecifiedMatching +OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:10000 semapv:UnspecifiedMatching +OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:RGS4 semapv:UnspecifiedMatching +OMIM:602516 RGS4 skos:exactMatch ncbigene:5999 semapv:UnspecifiedMatching +OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:10003 semapv:UnspecifiedMatching +OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:RGS7 semapv:UnspecifiedMatching +OMIM:602517 RGS7 skos:exactMatch ncbigene:6000 semapv:UnspecifiedMatching +OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:6565 semapv:UnspecifiedMatching +OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:LGALS4 semapv:UnspecifiedMatching +OMIM:602518 LGALS4 skos:exactMatch ncbigene:3960 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch UMLS:C1421408 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch hgnc.symbol:12630 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch hgnc.symbol:USP7 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch ncbigene:7874 semapv:UnspecifiedMatching +OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:6845 semapv:UnspecifiedMatching +OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:MAP2K5 semapv:UnspecifiedMatching +OMIM:602520 MAP2K5 skos:exactMatch ncbigene:5607 semapv:UnspecifiedMatching +OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:6880 semapv:UnspecifiedMatching +OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:MAPK7 semapv:UnspecifiedMatching +OMIM:602521 MAPK7 skos:exactMatch ncbigene:5598 semapv:UnspecifiedMatching +OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness skos:exactMatch MONDO:0011242 semapv:UnspecifiedMatching +OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:3039 semapv:UnspecifiedMatching +OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:DSCAM semapv:UnspecifiedMatching +OMIM:602523 DSCAM skos:exactMatch ncbigene:1826 semapv:UnspecifiedMatching +OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:8809 semapv:UnspecifiedMatching +OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:PDK1 semapv:UnspecifiedMatching +OMIM:602524 PDK1 skos:exactMatch ncbigene:5163 semapv:UnspecifiedMatching +OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:8810 semapv:UnspecifiedMatching +OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:PDK2 semapv:UnspecifiedMatching +OMIM:602525 PDK2 skos:exactMatch ncbigene:5164 semapv:UnspecifiedMatching +OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:8812 semapv:UnspecifiedMatching +OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:PDK4 semapv:UnspecifiedMatching +OMIM:602527 PDK4 skos:exactMatch ncbigene:5166 semapv:UnspecifiedMatching +OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:12408 semapv:UnspecifiedMatching +OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:TUBA3C semapv:UnspecifiedMatching +OMIM:602528 TUBA3C skos:exactMatch ncbigene:7278 semapv:UnspecifiedMatching +OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:20766 semapv:UnspecifiedMatching +OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:TUBA1A semapv:UnspecifiedMatching +OMIM:602529 TUBA1A skos:exactMatch ncbigene:7846 semapv:UnspecifiedMatching +OMIM:602530 TUBA1B skos:exactMatch UMLS:C1865268 semapv:UnspecifiedMatching +OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:18809 semapv:UnspecifiedMatching +OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:TUBA1B semapv:UnspecifiedMatching +OMIM:602530 TUBA1B skos:exactMatch ncbigene:10376 semapv:UnspecifiedMatching +OMIM:602531 grange syndrome skos:exactMatch MONDO:0011243 semapv:UnspecifiedMatching +OMIM:602531 grange syndrome skos:exactMatch Orphanet:79094 semapv:UnspecifiedMatching +OMIM:602531 grange syndrome skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching +OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:50866 semapv:UnspecifiedMatching +OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:RNF217-AS1 semapv:UnspecifiedMatching +OMIM:602532 RNF217AS1 skos:exactMatch ncbigene:7955 semapv:UnspecifiedMatching +OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:16369 semapv:UnspecifiedMatching +OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:PARK7 semapv:UnspecifiedMatching +OMIM:602533 DJ1 skos:exactMatch ncbigene:11315 semapv:UnspecifiedMatching +OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:11131 semapv:UnspecifiedMatching +OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:SNAP23 semapv:UnspecifiedMatching +OMIM:602534 SNAP23 skos:exactMatch ncbigene:8773 semapv:UnspecifiedMatching +OMIM:602535 marshall-smith syndrome skos:exactMatch MONDO:0011244 semapv:UnspecifiedMatching +OMIM:602535 marshall-smith syndrome skos:exactMatch Orphanet:561 semapv:UnspecifiedMatching +OMIM:602535 marshall-smith syndrome skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching +OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:17063 semapv:UnspecifiedMatching +OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:RAB3GAP1 semapv:UnspecifiedMatching +OMIM:602536 RAB3GAP1 skos:exactMatch ncbigene:22930 semapv:UnspecifiedMatching +OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:1482 semapv:UnspecifiedMatching +OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:CAPN5 semapv:UnspecifiedMatching +OMIM:602537 CAPN5 skos:exactMatch ncbigene:726 semapv:UnspecifiedMatching +OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:2550 semapv:UnspecifiedMatching +OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:CELF2 semapv:UnspecifiedMatching +OMIM:602538 CELF2 skos:exactMatch ncbigene:10659 semapv:UnspecifiedMatching +OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:6855 semapv:UnspecifiedMatching +OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:MAP3K3 semapv:UnspecifiedMatching +OMIM:602539 MAP3K3 skos:exactMatch ncbigene:4215 semapv:UnspecifiedMatching +OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch MONDO:0011245 semapv:UnspecifiedMatching +OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching +OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching +OMIM:602541 muscular dystrophy, congenital, megaconial iia skos:exactMatch MONDO:0011246 semapv:UnspecifiedMatching +OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:1125 semapv:UnspecifiedMatching +OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:BTF3 semapv:UnspecifiedMatching +OMIM:602542 BTF3 skos:exactMatch ncbigene:689 semapv:UnspecifiedMatching +OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:1126 semapv:UnspecifiedMatching +OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:BTF3P11 semapv:UnspecifiedMatching +OMIM:602543 BTF3P11 skos:exactMatch ncbigene:690 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C1418270 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch hgnc.symbol:8607 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch hgnc.symbol:PRKN semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch ncbigene:5071 semapv:UnspecifiedMatching +OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:9674 semapv:UnspecifiedMatching +OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:PTPRK semapv:UnspecifiedMatching +OMIM:602545 PTPRK skos:exactMatch ncbigene:5796 semapv:UnspecifiedMatching +OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:10870 semapv:UnspecifiedMatching +OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:ST8SIA2 semapv:UnspecifiedMatching +OMIM:602546 ST8SIA2 skos:exactMatch ncbigene:8128 semapv:UnspecifiedMatching +OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:10871 semapv:UnspecifiedMatching +OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:ST8SIA4 semapv:UnspecifiedMatching +OMIM:602547 ST8SIA4 skos:exactMatch ncbigene:7903 semapv:UnspecifiedMatching +OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:8155 semapv:UnspecifiedMatching +OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:OPRL1 semapv:UnspecifiedMatching +OMIM:602548 OPRL1 skos:exactMatch ncbigene:4987 semapv:UnspecifiedMatching +OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:9406 semapv:UnspecifiedMatching +OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:PKN2 semapv:UnspecifiedMatching +OMIM:602549 PKN2 skos:exactMatch ncbigene:5586 semapv:UnspecifiedMatching +OMIM:602550 BMAL1 skos:exactMatch UMLS:C1412544 semapv:UnspecifiedMatching +OMIM:602550 BMAL1 skos:exactMatch hgnc.symbol:BMAL1 semapv:UnspecifiedMatching +OMIM:602550 BMAL1 skos:exactMatch ncbigene:406 semapv:UnspecifiedMatching +OMIM:602551 jejunal atresia with renal adysplasia skos:exactMatch MONDO:0011247 semapv:UnspecifiedMatching +OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:8067 semapv:UnspecifiedMatching +OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:NUP88 semapv:UnspecifiedMatching +OMIM:602552 NUP88 skos:exactMatch ncbigene:4927 semapv:UnspecifiedMatching +OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion skos:exactMatch MONDO:0011248 semapv:UnspecifiedMatching +OMIM:602554 torsion dystonia with onset 1n infancy skos:exactMatch MONDO:0011249 semapv:UnspecifiedMatching +OMIM:602555 microcephaly, macrotia, and mental retardation skos:exactMatch MONDO:0011250 semapv:UnspecifiedMatching +OMIM:602556 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch MONDO:0011251 semapv:UnspecifiedMatching +OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch MONDO:0011252 semapv:UnspecifiedMatching +OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch Orphanet:93352 semapv:UnspecifiedMatching +OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching +OMIM:602558 craniomicromelic syndrome skos:exactMatch MONDO:0011253 semapv:UnspecifiedMatching +OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:12825 semapv:UnspecifiedMatching +OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:XPO1 semapv:UnspecifiedMatching +OMIM:602559 XPO1 skos:exactMatch ncbigene:7514 semapv:UnspecifiedMatching +OMIM:602561 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch MONDO:0011254 semapv:UnspecifiedMatching +OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia skos:exactMatch MONDO:0011255 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch UMLS:C1417738 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:7839 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:NKX6-1 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch ncbigene:4825 semapv:UnspecifiedMatching +OMIM:602564 emphysema, congenital, with deafness, penoscrotal web, and mental retardation skos:exactMatch MONDO:0011256 semapv:UnspecifiedMatching +OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:10624 semapv:UnspecifiedMatching +OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:CCL25 semapv:UnspecifiedMatching +OMIM:602565 CCL25 skos:exactMatch ncbigene:6370 semapv:UnspecifiedMatching +OMIM:602566 P2RX7 skos:exactMatch UMLS:C1418215 semapv:UnspecifiedMatching +OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:8537 semapv:UnspecifiedMatching +OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:P2RX7 semapv:UnspecifiedMatching +OMIM:602566 P2RX7 skos:exactMatch ncbigene:5027 semapv:UnspecifiedMatching +OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:6616 semapv:UnspecifiedMatching +OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:LIMS1 semapv:UnspecifiedMatching +OMIM:602567 LIMS1 skos:exactMatch ncbigene:3987 semapv:UnspecifiedMatching +OMIM:602568 MTRR skos:exactMatch hgnc.symbol:7473 semapv:UnspecifiedMatching +OMIM:602568 MTRR skos:exactMatch hgnc.symbol:MTRR semapv:UnspecifiedMatching +OMIM:602568 MTRR skos:exactMatch ncbigene:4552 semapv:UnspecifiedMatching +OMIM:602569 SNCB skos:exactMatch hgnc.symbol:11140 semapv:UnspecifiedMatching +OMIM:602569 SNCB skos:exactMatch hgnc.symbol:SNCB semapv:UnspecifiedMatching +OMIM:602569 SNCB skos:exactMatch ncbigene:6620 semapv:UnspecifiedMatching +OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:6189 semapv:UnspecifiedMatching +OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:JAG2 semapv:UnspecifiedMatching +OMIM:602570 JAG2 skos:exactMatch ncbigene:3714 semapv:UnspecifiedMatching +OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:9901 semapv:UnspecifiedMatching +OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:RBM4 semapv:UnspecifiedMatching +OMIM:602571 RBM4 skos:exactMatch ncbigene:5936 semapv:UnspecifiedMatching +OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:535 semapv:UnspecifiedMatching +OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:ANXA11 semapv:UnspecifiedMatching +OMIM:602572 ANXA11 skos:exactMatch ncbigene:311 semapv:UnspecifiedMatching +OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:536 semapv:UnspecifiedMatching +OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:ANXA13 semapv:UnspecifiedMatching +OMIM:602573 ANXA13 skos:exactMatch ncbigene:312 semapv:UnspecifiedMatching +OMIM:602574 TECTA skos:exactMatch hgnc.symbol:11720 semapv:UnspecifiedMatching +OMIM:602574 TECTA skos:exactMatch hgnc.symbol:TECTA semapv:UnspecifiedMatching +OMIM:602574 TECTA skos:exactMatch ncbigene:7007 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch UMLS:C1416890 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:6654 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:LMX1B semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch ncbigene:4010 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch UMLS:C1416828 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch UMLS:C1853296 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch hgnc.symbol:6560 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch hgnc.symbol:LFNG semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch ncbigene:3955 semapv:UnspecifiedMatching +OMIM:602577 MFNG skos:exactMatch hgnc.symbol:7038 semapv:UnspecifiedMatching +OMIM:602577 MFNG skos:exactMatch hgnc.symbol:MFNG semapv:UnspecifiedMatching +OMIM:602577 MFNG skos:exactMatch ncbigene:4242 semapv:UnspecifiedMatching +OMIM:602578 RFNG skos:exactMatch hgnc.symbol:9974 semapv:UnspecifiedMatching +OMIM:602578 RFNG skos:exactMatch hgnc.symbol:RFNG semapv:UnspecifiedMatching +OMIM:602578 RFNG skos:exactMatch ncbigene:5986 semapv:UnspecifiedMatching +OMIM:602579 congenital disorder of glycosylation, iia ib skos:exactMatch MONDO:0011257 semapv:UnspecifiedMatching +OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:4425 semapv:UnspecifiedMatching +OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:GOLGA2 semapv:UnspecifiedMatching +OMIM:602580 GOLGA2 skos:exactMatch ncbigene:2801 semapv:UnspecifiedMatching +OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:4426 semapv:UnspecifiedMatching +OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:GOLGA3 semapv:UnspecifiedMatching +OMIM:602581 GOLGA3 skos:exactMatch ncbigene:2802 semapv:UnspecifiedMatching +OMIM:602582 DTX1 skos:exactMatch UMLS:C1333256 semapv:UnspecifiedMatching +OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:3060 semapv:UnspecifiedMatching +OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:DTX1 semapv:UnspecifiedMatching +OMIM:602582 DTX1 skos:exactMatch ncbigene:1840 semapv:UnspecifiedMatching +OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:4494 semapv:UnspecifiedMatching +OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:GPR37 semapv:UnspecifiedMatching +OMIM:602583 GPR37 skos:exactMatch ncbigene:2861 semapv:UnspecifiedMatching +OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:9935 semapv:UnspecifiedMatching +OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:RCN2 semapv:UnspecifiedMatching +OMIM:602584 RCN2 skos:exactMatch ncbigene:5955 semapv:UnspecifiedMatching +OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:24157 semapv:UnspecifiedMatching +OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:ACOT7 semapv:UnspecifiedMatching +OMIM:602587 ACOT7 skos:exactMatch ncbigene:11332 semapv:UnspecifiedMatching +OMIM:602588 branchiootic syndrome 1 skos:exactMatch MONDO:0011258 semapv:UnspecifiedMatching +OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:4019 semapv:UnspecifiedMatching +OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:FUT8 semapv:UnspecifiedMatching +OMIM:602589 FUT8 skos:exactMatch ncbigene:2530 semapv:UnspecifiedMatching +OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:8590 semapv:UnspecifiedMatching +OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:PAK1 semapv:UnspecifiedMatching +OMIM:602590 PAK1 skos:exactMatch ncbigene:5058 semapv:UnspecifiedMatching +OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:6318 semapv:UnspecifiedMatching +OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:KIF2A semapv:UnspecifiedMatching +OMIM:602591 KIF2A skos:exactMatch ncbigene:3796 semapv:UnspecifiedMatching +OMIM:602592 CD5L skos:exactMatch hgnc.symbol:1690 semapv:UnspecifiedMatching +OMIM:602592 CD5L skos:exactMatch hgnc.symbol:CD5L semapv:UnspecifiedMatching +OMIM:602592 CD5L skos:exactMatch ncbigene:922 semapv:UnspecifiedMatching +OMIM:602593 CDSN skos:exactMatch hgnc.symbol:1802 semapv:UnspecifiedMatching +OMIM:602593 CDSN skos:exactMatch hgnc.symbol:CDSN semapv:UnspecifiedMatching +OMIM:602593 CDSN skos:exactMatch ncbigene:1041 semapv:UnspecifiedMatching +OMIM:602594 retinitis pigmentosa 22 skos:exactMatch MONDO:0011259 semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch UMLS:C1420069 semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:10884 semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:GEMIN2 semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch ncbigene:8487 semapv:UnspecifiedMatching +OMIM:602596 pancreatic lymphoma, familial skos:exactMatch MONDO:0011260 semapv:UnspecifiedMatching +OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:1008 semapv:UnspecifiedMatching +OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:BCL9 semapv:UnspecifiedMatching +OMIM:602597 BCL9 skos:exactMatch ncbigene:607 semapv:UnspecifiedMatching +OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:17890 semapv:UnspecifiedMatching +OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:HPGDS semapv:UnspecifiedMatching +OMIM:602598 HPGDS skos:exactMatch ncbigene:27306 semapv:UnspecifiedMatching +OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:6700 semapv:UnspecifiedMatching +OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:LRP8 semapv:UnspecifiedMatching +OMIM:602600 LRP8 skos:exactMatch ncbigene:7804 semapv:UnspecifiedMatching +OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:8133 semapv:UnspecifiedMatching +OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:OLR1 semapv:UnspecifiedMatching +OMIM:602601 OLR1 skos:exactMatch ncbigene:4973 semapv:UnspecifiedMatching +OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:10707 semapv:UnspecifiedMatching +OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:SECTM1 semapv:UnspecifiedMatching +OMIM:602602 SECTM1 skos:exactMatch ncbigene:6398 semapv:UnspecifiedMatching +OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:6815 semapv:UnspecifiedMatching +OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:MAGOH semapv:UnspecifiedMatching +OMIM:602603 MAGOH skos:exactMatch ncbigene:4116 semapv:UnspecifiedMatching +OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:24323 semapv:UnspecifiedMatching +OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:CARTPT semapv:UnspecifiedMatching +OMIM:602606 CARTPT skos:exactMatch ncbigene:9607 semapv:UnspecifiedMatching +OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:10963 semapv:UnspecifiedMatching +OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:SLC22A1 semapv:UnspecifiedMatching +OMIM:602607 SLC22A1 skos:exactMatch ncbigene:6580 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch UMLS:C1420137 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:10966 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:SLC22A2 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch ncbigene:6582 semapv:UnspecifiedMatching +OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:8974 semapv:UnspecifiedMatching +OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:PIK3C3 semapv:UnspecifiedMatching +OMIM:602609 PIK3C3 skos:exactMatch ncbigene:5289 semapv:UnspecifiedMatching +OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:8982 semapv:UnspecifiedMatching +OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:PIK3R4 semapv:UnspecifiedMatching +OMIM:602610 PIK3R4 skos:exactMatch ncbigene:30849 semapv:UnspecifiedMatching +OMIM:602611 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation skos:exactMatch MONDO:0011261 semapv:UnspecifiedMatching +OMIM:602612 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch MONDO:0011262 semapv:UnspecifiedMatching +OMIM:602613 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch MONDO:0011263 semapv:UnspecifiedMatching +OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:6859 semapv:UnspecifiedMatching +OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:MAP3K7 semapv:UnspecifiedMatching +OMIM:602614 MAP3K7 skos:exactMatch ncbigene:6885 semapv:UnspecifiedMatching +OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:18157 semapv:UnspecifiedMatching +OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:TAB1 semapv:UnspecifiedMatching +OMIM:602615 TAB1 skos:exactMatch ncbigene:10454 semapv:UnspecifiedMatching +OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:7045 semapv:UnspecifiedMatching +OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:MGAT2 semapv:UnspecifiedMatching +OMIM:602616 MGAT2 skos:exactMatch ncbigene:4247 semapv:UnspecifiedMatching +OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:3806 semapv:UnspecifiedMatching +OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:FOXE1 semapv:UnspecifiedMatching +OMIM:602617 FOXE1 skos:exactMatch ncbigene:2304 semapv:UnspecifiedMatching +OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:2494 semapv:UnspecifiedMatching +OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:CTBP1 semapv:UnspecifiedMatching +OMIM:602618 CTBP1 skos:exactMatch ncbigene:1487 semapv:UnspecifiedMatching +OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:2495 semapv:UnspecifiedMatching +OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:CTBP2 semapv:UnspecifiedMatching +OMIM:602619 CTBP2 skos:exactMatch ncbigene:1488 semapv:UnspecifiedMatching +OMIM:602620 LGMN skos:exactMatch hgnc.symbol:9472 semapv:UnspecifiedMatching +OMIM:602620 LGMN skos:exactMatch hgnc.symbol:LGMN semapv:UnspecifiedMatching +OMIM:602620 LGMN skos:exactMatch ncbigene:5641 semapv:UnspecifiedMatching +OMIM:602621 CXADR skos:exactMatch hgnc.symbol:2559 semapv:UnspecifiedMatching +OMIM:602621 CXADR skos:exactMatch hgnc.symbol:CXADR semapv:UnspecifiedMatching +OMIM:602621 CXADR skos:exactMatch ncbigene:1525 semapv:UnspecifiedMatching +OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:2958 semapv:UnspecifiedMatching +OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:DNASE1L2 semapv:UnspecifiedMatching +OMIM:602622 DNASE1L2 skos:exactMatch ncbigene:1775 semapv:UnspecifiedMatching +OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:3721 semapv:UnspecifiedMatching +OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:FKBP5 semapv:UnspecifiedMatching +OMIM:602623 FKBP5 skos:exactMatch ncbigene:2289 semapv:UnspecifiedMatching +OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:946 semapv:UnspecifiedMatching +OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:MAGI1 semapv:UnspecifiedMatching +OMIM:602625 MAGI1 skos:exactMatch ncbigene:9223 semapv:UnspecifiedMatching +OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:5995 semapv:UnspecifiedMatching +OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:IL1RAP semapv:UnspecifiedMatching +OMIM:602626 IL1RAP skos:exactMatch ncbigene:3556 semapv:UnspecifiedMatching +OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:1744 semapv:UnspecifiedMatching +OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:CDC6 semapv:UnspecifiedMatching +OMIM:602627 CDC6 skos:exactMatch ncbigene:990 semapv:UnspecifiedMatching +OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:1928 semapv:UnspecifiedMatching +OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:FOXN3 semapv:UnspecifiedMatching +OMIM:602628 FOXN3 skos:exactMatch ncbigene:1112 semapv:UnspecifiedMatching +OMIM:602629 dystonia 6, torsion skos:exactMatch MONDO:0011264 semapv:UnspecifiedMatching +OMIM:602630 TGIF skos:exactMatch hgnc.symbol:11776 semapv:UnspecifiedMatching +OMIM:602630 TGIF skos:exactMatch hgnc.symbol:TGIF1 semapv:UnspecifiedMatching +OMIM:602630 TGIF skos:exactMatch ncbigene:7050 semapv:UnspecifiedMatching +OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:10964 semapv:UnspecifiedMatching +OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:SLC22A18 semapv:UnspecifiedMatching +OMIM:602631 SLC22A18 skos:exactMatch ncbigene:5002 semapv:UnspecifiedMatching +OMIM:602632 PODXL skos:exactMatch hgnc.symbol:9171 semapv:UnspecifiedMatching +OMIM:602632 PODXL skos:exactMatch hgnc.symbol:PODXL semapv:UnspecifiedMatching +OMIM:602632 PODXL skos:exactMatch ncbigene:5420 semapv:UnspecifiedMatching +OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:3703 semapv:UnspecifiedMatching +OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:FHL2 semapv:UnspecifiedMatching +OMIM:602633 FHL2 skos:exactMatch ncbigene:2274 semapv:UnspecifiedMatching +OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:6968 semapv:UnspecifiedMatching +OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:DNAJB9 semapv:UnspecifiedMatching +OMIM:602634 DNAJB9 skos:exactMatch ncbigene:4189 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C1422833 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394572 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394573 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:14677 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:DEAF1 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch ncbigene:10522 semapv:UnspecifiedMatching +OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:9296 semapv:UnspecifiedMatching +OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:PPP1R8 semapv:UnspecifiedMatching +OMIM:602636 PPP1R8 skos:exactMatch ncbigene:5511 semapv:UnspecifiedMatching +OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:11256 semapv:UnspecifiedMatching +OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:SPP2 semapv:UnspecifiedMatching +OMIM:602637 SPP2 skos:exactMatch ncbigene:6694 semapv:UnspecifiedMatching +OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:6947 semapv:UnspecifiedMatching +OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:MCM4 semapv:UnspecifiedMatching +OMIM:602638 MCM4 skos:exactMatch ncbigene:4173 semapv:UnspecifiedMatching +OMIM:602639 tooth agenesis, selective, 2 skos:exactMatch MONDO:0011265 semapv:UnspecifiedMatching +OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:23536 semapv:UnspecifiedMatching +OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:NAALADL1 semapv:UnspecifiedMatching +OMIM:602640 NAALADL1 skos:exactMatch ncbigene:10004 semapv:UnspecifiedMatching +OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:3282 semapv:UnspecifiedMatching +OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:EIF4A1 semapv:UnspecifiedMatching +OMIM:602641 EIF4A1 skos:exactMatch ncbigene:1973 semapv:UnspecifiedMatching +OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:11926 semapv:UnspecifiedMatching +OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:TNFSF11 semapv:UnspecifiedMatching +OMIM:602642 TNFSF11 skos:exactMatch ncbigene:8600 semapv:UnspecifiedMatching +OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:11909 semapv:UnspecifiedMatching +OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:TNFRSF11B semapv:UnspecifiedMatching +OMIM:602643 TNFRSF11B skos:exactMatch ncbigene:4982 semapv:UnspecifiedMatching +OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:11859 semapv:UnspecifiedMatching +OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:TSPAN4 semapv:UnspecifiedMatching +OMIM:602644 TSPAN4 skos:exactMatch ncbigene:7106 semapv:UnspecifiedMatching +OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:10725 semapv:UnspecifiedMatching +OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:SEMA3C semapv:UnspecifiedMatching +OMIM:602645 SEMA3C skos:exactMatch ncbigene:10512 semapv:UnspecifiedMatching +OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:4492 semapv:UnspecifiedMatching +OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:GPR35 semapv:UnspecifiedMatching +OMIM:602646 GPR35 skos:exactMatch ncbigene:2859 semapv:UnspecifiedMatching +OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:8071 semapv:UnspecifiedMatching +OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:NXF1 semapv:UnspecifiedMatching +OMIM:602647 NXF1 skos:exactMatch ncbigene:10482 semapv:UnspecifiedMatching +OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:1565 semapv:UnspecifiedMatching +OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:ACKR2 semapv:UnspecifiedMatching +OMIM:602648 ACKR2 skos:exactMatch ncbigene:1238 semapv:UnspecifiedMatching +OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:1982 semapv:UnspecifiedMatching +OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:CIRBP semapv:UnspecifiedMatching +OMIM:602649 CIRBP skos:exactMatch ncbigene:1153 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch UMLS:C1420368 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch hgnc.symbol:11254 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch hgnc.symbol:SPOP semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch ncbigene:8405 semapv:UnspecifiedMatching +OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:7995 semapv:UnspecifiedMatching +OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:NRDC semapv:UnspecifiedMatching +OMIM:602651 NRD1 skos:exactMatch ncbigene:4898 semapv:UnspecifiedMatching +OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:6367 semapv:UnspecifiedMatching +OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:KLK6 semapv:UnspecifiedMatching +OMIM:602652 KLK6 skos:exactMatch ncbigene:5653 semapv:UnspecifiedMatching +OMIM:602653 TECTB skos:exactMatch hgnc.symbol:11721 semapv:UnspecifiedMatching +OMIM:602653 TECTB skos:exactMatch hgnc.symbol:TECTB semapv:UnspecifiedMatching +OMIM:602653 TECTB skos:exactMatch ncbigene:6975 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch UMLS:C1414533 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:3591 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:FARP1 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch ncbigene:10160 semapv:UnspecifiedMatching +OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:13813 semapv:UnspecifiedMatching +OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:SLC4A1AP semapv:UnspecifiedMatching +OMIM:602655 SLC4A1AP skos:exactMatch ncbigene:22950 semapv:UnspecifiedMatching +OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:8028 semapv:UnspecifiedMatching +OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:NTHL1 semapv:UnspecifiedMatching +OMIM:602656 NTHL1 skos:exactMatch ncbigene:4913 semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch UMLS:C1418417 semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch UMLS:C5436894 semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:8777 semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:PDE2A semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch ncbigene:5138 semapv:UnspecifiedMatching +OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:7181 semapv:UnspecifiedMatching +OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:MNAT1 semapv:UnspecifiedMatching +OMIM:602659 MNAT1 skos:exactMatch ncbigene:4331 semapv:UnspecifiedMatching +OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:20771 semapv:UnspecifiedMatching +OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:TUBB4B semapv:UnspecifiedMatching +OMIM:602660 TUBB4B skos:exactMatch ncbigene:10383 semapv:UnspecifiedMatching +OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:20772 semapv:UnspecifiedMatching +OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:TUBB3 semapv:UnspecifiedMatching +OMIM:602661 TUBB3 skos:exactMatch ncbigene:10381 semapv:UnspecifiedMatching +OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:20774 semapv:UnspecifiedMatching +OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:TUBB4A semapv:UnspecifiedMatching +OMIM:602662 TUBB4A skos:exactMatch ncbigene:10382 semapv:UnspecifiedMatching +OMIM:602663 PRLH skos:exactMatch hgnc.symbol:17945 semapv:UnspecifiedMatching +OMIM:602663 PRLH skos:exactMatch hgnc.symbol:PRLH semapv:UnspecifiedMatching +OMIM:602663 PRLH skos:exactMatch ncbigene:51052 semapv:UnspecifiedMatching +OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:1505 semapv:UnspecifiedMatching +OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:CASP4 semapv:UnspecifiedMatching +OMIM:602664 CASP4 skos:exactMatch ncbigene:837 semapv:UnspecifiedMatching +OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:1506 semapv:UnspecifiedMatching +OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:CASP5 semapv:UnspecifiedMatching +OMIM:602665 CASP5 skos:exactMatch ncbigene:838 semapv:UnspecifiedMatching +OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:7594 semapv:UnspecifiedMatching +OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:MYO15A semapv:UnspecifiedMatching +OMIM:602666 MYO15A skos:exactMatch ncbigene:51168 semapv:UnspecifiedMatching +OMIM:602667 NBN skos:exactMatch hgnc.symbol:7652 semapv:UnspecifiedMatching +OMIM:602667 NBN skos:exactMatch hgnc.symbol:NBN semapv:UnspecifiedMatching +OMIM:602667 NBN skos:exactMatch ncbigene:4683 semapv:UnspecifiedMatching +OMIM:602668 myotonic dystrophy 2 skos:exactMatch MONDO:0011266 semapv:UnspecifiedMatching +OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:9006 semapv:UnspecifiedMatching +OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:PITX3 semapv:UnspecifiedMatching +OMIM:602669 PITX3 skos:exactMatch ncbigene:5309 semapv:UnspecifiedMatching +OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:9178 semapv:UnspecifiedMatching +OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:POLE2 semapv:UnspecifiedMatching +OMIM:602670 POLE2 skos:exactMatch ncbigene:5427 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0342749 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch UMLS:C1414895 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:4061 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:SLC37A4 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch ncbigene:2542 semapv:UnspecifiedMatching +OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:9762 semapv:UnspecifiedMatching +OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:RAB13 semapv:UnspecifiedMatching +OMIM:602672 RAB13 skos:exactMatch ncbigene:5872 semapv:UnspecifiedMatching +OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:6358 semapv:UnspecifiedMatching +OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:KLK10 semapv:UnspecifiedMatching +OMIM:602673 KLK10 skos:exactMatch ncbigene:5655 semapv:UnspecifiedMatching +OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:10078 semapv:UnspecifiedMatching +OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:RNPEP semapv:UnspecifiedMatching +OMIM:602675 RNPEP skos:exactMatch ncbigene:6051 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch UMLS:C1418428 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:8788 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:PDE6D semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch ncbigene:5147 semapv:UnspecifiedMatching +OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:10068 semapv:UnspecifiedMatching +OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:RNF5 semapv:UnspecifiedMatching +OMIM:602677 RNF5 skos:exactMatch ncbigene:6048 semapv:UnspecifiedMatching +OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:6897 semapv:UnspecifiedMatching +OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:MARK3 semapv:UnspecifiedMatching +OMIM:602678 MARK3 skos:exactMatch ncbigene:4140 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch UMLS:C1418398 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:8756 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:PCYT2 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch ncbigene:5833 semapv:UnspecifiedMatching +OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:675 semapv:UnspecifiedMatching +OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:ARHGAP5 semapv:UnspecifiedMatching +OMIM:602680 ARHGAP5 skos:exactMatch ncbigene:394 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch UMLS:C1333573 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:3821 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:FOXO3 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch ncbigene:2309 semapv:UnspecifiedMatching +OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:943 semapv:UnspecifiedMatching +OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:ADGRB1 semapv:UnspecifiedMatching +OMIM:602682 ADGRB1 skos:exactMatch ncbigene:575 semapv:UnspecifiedMatching +OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:944 semapv:UnspecifiedMatching +OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:ADGRB2 semapv:UnspecifiedMatching +OMIM:602683 ADGRB2 skos:exactMatch ncbigene:576 semapv:UnspecifiedMatching +OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:945 semapv:UnspecifiedMatching +OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:ADGRB3 semapv:UnspecifiedMatching +OMIM:602684 ADGRB3 skos:exactMatch ncbigene:577 semapv:UnspecifiedMatching +OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch MONDO:0011267 semapv:UnspecifiedMatching +OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:6762 semapv:UnspecifiedMatching +OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:MAD1L1 semapv:UnspecifiedMatching +OMIM:602686 MAD1L1 skos:exactMatch ncbigene:8379 semapv:UnspecifiedMatching +OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:5034 semapv:UnspecifiedMatching +OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:HNRNPAB semapv:UnspecifiedMatching +OMIM:602688 HNRNPAB skos:exactMatch ncbigene:3182 semapv:UnspecifiedMatching +OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:11148 semapv:UnspecifiedMatching +OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:FSCN1 semapv:UnspecifiedMatching +OMIM:602689 FSCN1 skos:exactMatch ncbigene:6624 semapv:UnspecifiedMatching +OMIM:602690 SDHD skos:exactMatch hgnc.symbol:10683 semapv:UnspecifiedMatching +OMIM:602690 SDHD skos:exactMatch hgnc.symbol:SDHD semapv:UnspecifiedMatching +OMIM:602690 SDHD skos:exactMatch ncbigene:6392 semapv:UnspecifiedMatching +OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:7668 semapv:UnspecifiedMatching +OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:NCOA1 semapv:UnspecifiedMatching +OMIM:602691 NCOA1 skos:exactMatch ncbigene:8648 semapv:UnspecifiedMatching +OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:17001 semapv:UnspecifiedMatching +OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:GLIPR1 semapv:UnspecifiedMatching +OMIM:602692 GLIPR1 skos:exactMatch ncbigene:11010 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch UMLS:C1334490 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:6945 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:MCM3 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch ncbigene:4172 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1417647 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:7711 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:NDUFS4 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch ncbigene:4724 semapv:UnspecifiedMatching +OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:11927 semapv:UnspecifiedMatching +OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:TNFSF12 semapv:UnspecifiedMatching +OMIM:602695 TNFSF12 skos:exactMatch ncbigene:8742 semapv:UnspecifiedMatching +OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:6948 semapv:UnspecifiedMatching +OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:MCM5 semapv:UnspecifiedMatching +OMIM:602696 MCM5 skos:exactMatch ncbigene:4174 semapv:UnspecifiedMatching +OMIM:602697 P2RY11 skos:exactMatch hgnc.symbol:8540 semapv:UnspecifiedMatching +OMIM:602697 P2RY11 skos:exactMatch hgnc.symbol:P2RY11 semapv:UnspecifiedMatching +OMIM:602697 P2RY11 skos:exactMatch ncbigene:5032 semapv:UnspecifiedMatching +OMIM:602698 NFATC3 skos:exactMatch UMLS:C1417696 semapv:UnspecifiedMatching +OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:7777 semapv:UnspecifiedMatching +OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:NFATC3 semapv:UnspecifiedMatching +OMIM:602698 NFATC3 skos:exactMatch ncbigene:4775 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch UMLS:C1417697 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:7778 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:NFATC4 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch ncbigene:4776 semapv:UnspecifiedMatching +OMIM:602700 EP300 skos:exactMatch hgnc.symbol:3373 semapv:UnspecifiedMatching +OMIM:602700 EP300 skos:exactMatch hgnc.symbol:EP300 semapv:UnspecifiedMatching +OMIM:602700 EP300 skos:exactMatch ncbigene:2033 semapv:UnspecifiedMatching +OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:16643 semapv:UnspecifiedMatching +OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:SLMAP semapv:UnspecifiedMatching +OMIM:602701 SLMAP skos:exactMatch ncbigene:7871 semapv:UnspecifiedMatching +OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:16893 semapv:UnspecifiedMatching +OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:PLIN3 semapv:UnspecifiedMatching +OMIM:602702 PLIN3 skos:exactMatch ncbigene:10226 semapv:UnspecifiedMatching +OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:6217 semapv:UnspecifiedMatching +OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:KATNB1 semapv:UnspecifiedMatching +OMIM:602703 KATNB1 skos:exactMatch ncbigene:10300 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch UMLS:C1417089 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:6974 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:MDM4 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch ncbigene:4194 semapv:UnspecifiedMatching +OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:11496 semapv:UnspecifiedMatching +OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:SYN3 semapv:UnspecifiedMatching +OMIM:602705 SYN3 skos:exactMatch ncbigene:8224 semapv:UnspecifiedMatching +OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:9547 semapv:UnspecifiedMatching +OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:PSMC1 semapv:UnspecifiedMatching +OMIM:602706 PSMC1 skos:exactMatch ncbigene:5700 semapv:UnspecifiedMatching +OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:9551 semapv:UnspecifiedMatching +OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:PSMC4 semapv:UnspecifiedMatching +OMIM:602707 PSMC4 skos:exactMatch ncbigene:5704 semapv:UnspecifiedMatching +OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:9553 semapv:UnspecifiedMatching +OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:PSMC6 semapv:UnspecifiedMatching +OMIM:602708 PSMC6 skos:exactMatch ncbigene:5706 semapv:UnspecifiedMatching +OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:581 semapv:UnspecifiedMatching +OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:APBB1 semapv:UnspecifiedMatching +OMIM:602709 APBB1 skos:exactMatch ncbigene:322 semapv:UnspecifiedMatching +OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:582 semapv:UnspecifiedMatching +OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:APBB2 semapv:UnspecifiedMatching +OMIM:602710 APBB2 skos:exactMatch ncbigene:323 semapv:UnspecifiedMatching +OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:20708 semapv:UnspecifiedMatching +OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:APBB3 semapv:UnspecifiedMatching +OMIM:602711 APBB3 skos:exactMatch ncbigene:10307 semapv:UnspecifiedMatching +OMIM:602712 APBA2 skos:exactMatch UMLS:C1412457 semapv:UnspecifiedMatching +OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:579 semapv:UnspecifiedMatching +OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:APBA2 semapv:UnspecifiedMatching +OMIM:602712 APBA2 skos:exactMatch ncbigene:321 semapv:UnspecifiedMatching +OMIM:602713 ADAM9 skos:exactMatch hgnc.symbol:216 semapv:UnspecifiedMatching +OMIM:602713 ADAM9 skos:exactMatch hgnc.symbol:ADAM9 semapv:UnspecifiedMatching +OMIM:602713 ADAM9 skos:exactMatch ncbigene:8754 semapv:UnspecifiedMatching +OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:190 semapv:UnspecifiedMatching +OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:ADAM12 semapv:UnspecifiedMatching +OMIM:602714 ADAM12 skos:exactMatch ncbigene:8038 semapv:UnspecifiedMatching +OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:6647 semapv:UnspecifiedMatching +OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:LMOD1 semapv:UnspecifiedMatching +OMIM:602715 LMOD1 skos:exactMatch ncbigene:25802 semapv:UnspecifiedMatching +OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:7908 semapv:UnspecifiedMatching +OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:NPHS1 semapv:UnspecifiedMatching +OMIM:602716 NPHS1 skos:exactMatch ncbigene:4868 semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch UMLS:C1415302 semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:4588 semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:GRIN2D semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch ncbigene:2906 semapv:UnspecifiedMatching +OMIM:602718 TRA2A skos:exactMatch UMLS:C1864500 semapv:UnspecifiedMatching +OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:16645 semapv:UnspecifiedMatching +OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:TRA2A semapv:UnspecifiedMatching +OMIM:602718 TRA2A skos:exactMatch ncbigene:29896 semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch UMLS:C1419990 semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:10781 semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:TRA2B semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch ncbigene:6434 semapv:UnspecifiedMatching +OMIM:602720 PON3 skos:exactMatch hgnc.symbol:9206 semapv:UnspecifiedMatching +OMIM:602720 PON3 skos:exactMatch hgnc.symbol:PON3 semapv:UnspecifiedMatching +OMIM:602720 PON3 skos:exactMatch ncbigene:5446 semapv:UnspecifiedMatching +OMIM:602721 DMC1 skos:exactMatch hgnc.symbol:2927 semapv:UnspecifiedMatching +OMIM:602721 DMC1 skos:exactMatch hgnc.symbol:DMC1 semapv:UnspecifiedMatching +OMIM:602721 DMC1 skos:exactMatch ncbigene:11144 semapv:UnspecifiedMatching +OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch MONDO:0011268 semapv:UnspecifiedMatching +OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching +OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching +OMIM:602723 psoriasis 2 skos:exactMatch MONDO:0011269 semapv:UnspecifiedMatching +OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:9164 semapv:UnspecifiedMatching +OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:SEPTIN5 semapv:UnspecifiedMatching +OMIM:602724 SEPT5 skos:exactMatch ncbigene:5413 semapv:UnspecifiedMatching +OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:5457 semapv:UnspecifiedMatching +OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:IFRD2 semapv:UnspecifiedMatching +OMIM:602725 IFRD2 skos:exactMatch ncbigene:7866 semapv:UnspecifiedMatching +OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:2024 semapv:UnspecifiedMatching +OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:CLCN6 semapv:UnspecifiedMatching +OMIM:602726 CLCN6 skos:exactMatch ncbigene:1185 semapv:UnspecifiedMatching +OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:2025 semapv:UnspecifiedMatching +OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:CLCN7 semapv:UnspecifiedMatching +OMIM:602727 CLCN7 skos:exactMatch ncbigene:1186 semapv:UnspecifiedMatching +OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:19000 semapv:UnspecifiedMatching +OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:SCARA3 semapv:UnspecifiedMatching +OMIM:602728 SCARA3 skos:exactMatch ncbigene:51435 semapv:UnspecifiedMatching +OMIM:602729 GABRP skos:exactMatch hgnc.symbol:4089 semapv:UnspecifiedMatching +OMIM:602729 GABRP skos:exactMatch hgnc.symbol:GABRP semapv:UnspecifiedMatching +OMIM:602729 GABRP skos:exactMatch ncbigene:2568 semapv:UnspecifiedMatching +OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:174 semapv:UnspecifiedMatching +OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:ACVR2B semapv:UnspecifiedMatching +OMIM:602730 ACVR2B skos:exactMatch ncbigene:93 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch UMLS:C1414885 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:4036 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:FYB1 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch ncbigene:2533 semapv:UnspecifiedMatching +OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:673 semapv:UnspecifiedMatching +OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:ARHGAP1 semapv:UnspecifiedMatching +OMIM:602732 ARHGAP1 skos:exactMatch ncbigene:392 semapv:UnspecifiedMatching +OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:412 semapv:UnspecifiedMatching +OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:ALDH9A1 semapv:UnspecifiedMatching +OMIM:602733 ALDH9A1 skos:exactMatch ncbigene:223 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch UMLS:C1418657 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:9090 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:PLS1 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch ncbigene:5357 semapv:UnspecifiedMatching +OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:9934 semapv:UnspecifiedMatching +OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:RCN1 semapv:UnspecifiedMatching +OMIM:602735 RCN1 skos:exactMatch ncbigene:5954 semapv:UnspecifiedMatching +OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:843 semapv:UnspecifiedMatching +OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:ATP5MC3 semapv:UnspecifiedMatching +OMIM:602736 ATP5MC3 skos:exactMatch ncbigene:518 semapv:UnspecifiedMatching +OMIM:602737 CCL21 skos:exactMatch UMLS:C1332684 semapv:UnspecifiedMatching +OMIM:602737 CCL21 skos:exactMatch hgnc.symbol:10620 semapv:UnspecifiedMatching +OMIM:602737 CCL21 skos:exactMatch hgnc.symbol:CCL21 semapv:UnspecifiedMatching +OMIM:602737 CCL21 skos:exactMatch ncbigene:6366 semapv:UnspecifiedMatching +OMIM:602738 KPNB1 skos:exactMatch hgnc.symbol:6400 semapv:UnspecifiedMatching +OMIM:602738 KPNB1 skos:exactMatch hgnc.symbol:KPNB1 semapv:UnspecifiedMatching +OMIM:602738 KPNB1 skos:exactMatch ncbigene:3837 semapv:UnspecifiedMatching +OMIM:602739 PRKAA1 skos:exactMatch hgnc.symbol:9376 semapv:UnspecifiedMatching +OMIM:602739 PRKAA1 skos:exactMatch hgnc.symbol:PRKAA1 semapv:UnspecifiedMatching +OMIM:602739 PRKAA1 skos:exactMatch ncbigene:5562 semapv:UnspecifiedMatching +OMIM:602740 PRKAB1 skos:exactMatch hgnc.symbol:9378 semapv:UnspecifiedMatching +OMIM:602740 PRKAB1 skos:exactMatch hgnc.symbol:PRKAB1 semapv:UnspecifiedMatching +OMIM:602740 PRKAB1 skos:exactMatch ncbigene:5564 semapv:UnspecifiedMatching +OMIM:602741 PRKAB2 skos:exactMatch hgnc.symbol:9379 semapv:UnspecifiedMatching +OMIM:602741 PRKAB2 skos:exactMatch hgnc.symbol:PRKAB2 semapv:UnspecifiedMatching +OMIM:602741 PRKAB2 skos:exactMatch ncbigene:5565 semapv:UnspecifiedMatching +OMIM:602742 PRKAG1 skos:exactMatch hgnc.symbol:9385 semapv:UnspecifiedMatching +OMIM:602742 PRKAG1 skos:exactMatch hgnc.symbol:PRKAG1 semapv:UnspecifiedMatching +OMIM:602742 PRKAG1 skos:exactMatch ncbigene:5571 semapv:UnspecifiedMatching +OMIM:602743 PRKAG2 skos:exactMatch hgnc.symbol:9386 semapv:UnspecifiedMatching +OMIM:602743 PRKAG2 skos:exactMatch hgnc.symbol:PRKAG2 semapv:UnspecifiedMatching +OMIM:602743 PRKAG2 skos:exactMatch ncbigene:51422 semapv:UnspecifiedMatching +OMIM:602744 GNPAT skos:exactMatch hgnc.symbol:4416 semapv:UnspecifiedMatching +OMIM:602744 GNPAT skos:exactMatch hgnc.symbol:GNPAT semapv:UnspecifiedMatching +OMIM:602744 GNPAT skos:exactMatch ncbigene:8443 semapv:UnspecifiedMatching +OMIM:602745 PIP5K1B skos:exactMatch hgnc.symbol:8995 semapv:UnspecifiedMatching +OMIM:602745 PIP5K1B skos:exactMatch hgnc.symbol:PIP5K1B semapv:UnspecifiedMatching +OMIM:602745 PIP5K1B skos:exactMatch ncbigene:8395 semapv:UnspecifiedMatching +OMIM:602746 TNFRSF14 skos:exactMatch hgnc.symbol:11912 semapv:UnspecifiedMatching +OMIM:602746 TNFRSF14 skos:exactMatch hgnc.symbol:TNFRSF14 semapv:UnspecifiedMatching +OMIM:602746 TNFRSF14 skos:exactMatch ncbigene:8764 semapv:UnspecifiedMatching +OMIM:602747 DUSP4 skos:exactMatch hgnc.symbol:3070 semapv:UnspecifiedMatching +OMIM:602747 DUSP4 skos:exactMatch hgnc.symbol:DUSP4 semapv:UnspecifiedMatching +OMIM:602747 DUSP4 skos:exactMatch ncbigene:1846 semapv:UnspecifiedMatching +OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:3072 semapv:UnspecifiedMatching +OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:DUSP6 semapv:UnspecifiedMatching +OMIM:602748 DUSP6 skos:exactMatch ncbigene:1848 semapv:UnspecifiedMatching +OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:3073 semapv:UnspecifiedMatching +OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:DUSP7 semapv:UnspecifiedMatching +OMIM:602749 DUSP7 skos:exactMatch ncbigene:1849 semapv:UnspecifiedMatching +OMIM:602750 DDT skos:exactMatch hgnc.symbol:2732 semapv:UnspecifiedMatching +OMIM:602750 DDT skos:exactMatch hgnc.symbol:DDT semapv:UnspecifiedMatching +OMIM:602750 DDT skos:exactMatch ncbigene:1652 semapv:UnspecifiedMatching +OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:935 semapv:UnspecifiedMatching +OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:BACH1 semapv:UnspecifiedMatching +OMIM:602751 BACH1 skos:exactMatch ncbigene:571 semapv:UnspecifiedMatching +OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:9849 semapv:UnspecifiedMatching +OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:RGPD8 semapv:UnspecifiedMatching +OMIM:602752 RGPD8 skos:exactMatch ncbigene:727851 semapv:UnspecifiedMatching +OMIM:602753 PHOX2A skos:exactMatch hgnc.symbol:691 semapv:UnspecifiedMatching +OMIM:602753 PHOX2A skos:exactMatch hgnc.symbol:PHOX2A semapv:UnspecifiedMatching +OMIM:602753 PHOX2A skos:exactMatch ncbigene:401 semapv:UnspecifiedMatching +OMIM:602754 KCNN4 skos:exactMatch hgnc.symbol:6293 semapv:UnspecifiedMatching +OMIM:602754 KCNN4 skos:exactMatch hgnc.symbol:KCNN4 semapv:UnspecifiedMatching +OMIM:602754 KCNN4 skos:exactMatch ncbigene:3783 semapv:UnspecifiedMatching +OMIM:602755 CCNB2 skos:exactMatch hgnc.symbol:1580 semapv:UnspecifiedMatching +OMIM:602755 CCNB2 skos:exactMatch hgnc.symbol:CCNB2 semapv:UnspecifiedMatching +OMIM:602755 CCNB2 skos:exactMatch ncbigene:9133 semapv:UnspecifiedMatching +OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:3222 semapv:UnspecifiedMatching +OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:EFNA2 semapv:UnspecifiedMatching +OMIM:602756 EFNA2 skos:exactMatch ncbigene:1943 semapv:UnspecifiedMatching +OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:3396 semapv:UnspecifiedMatching +OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:EPHB6 semapv:UnspecifiedMatching +OMIM:602757 EPHB6 skos:exactMatch ncbigene:2051 semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch UMLS:C1335216 semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:8984 semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:PI4KB semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch ncbigene:5298 semapv:UnspecifiedMatching +OMIM:602759 prostate cancer, hereditary, 8 skos:exactMatch MONDO:0011270 semapv:UnspecifiedMatching +OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:6449 semapv:UnspecifiedMatching +OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:KRT32 semapv:UnspecifiedMatching +OMIM:602760 KRT32 skos:exactMatch ncbigene:3882 semapv:UnspecifiedMatching +OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:6450 semapv:UnspecifiedMatching +OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:KRT33A semapv:UnspecifiedMatching +OMIM:602761 KRT33A skos:exactMatch ncbigene:3883 semapv:UnspecifiedMatching +OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:6451 semapv:UnspecifiedMatching +OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:KRT33B semapv:UnspecifiedMatching +OMIM:602762 KRT33B skos:exactMatch ncbigene:3884 semapv:UnspecifiedMatching +OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:6452 semapv:UnspecifiedMatching +OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:KRT34 semapv:UnspecifiedMatching +OMIM:602763 KRT34 skos:exactMatch ncbigene:3885 semapv:UnspecifiedMatching +OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:6453 semapv:UnspecifiedMatching +OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:KRT35 semapv:UnspecifiedMatching +OMIM:602764 KRT35 skos:exactMatch ncbigene:3886 semapv:UnspecifiedMatching +OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:6460 semapv:UnspecifiedMatching +OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:KRT83 semapv:UnspecifiedMatching +OMIM:602765 KRT83 skos:exactMatch ncbigene:3889 semapv:UnspecifiedMatching +OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:6461 semapv:UnspecifiedMatching +OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:KRT84 semapv:UnspecifiedMatching +OMIM:602766 KRT84 skos:exactMatch ncbigene:3890 semapv:UnspecifiedMatching +OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:6462 semapv:UnspecifiedMatching +OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:KRT85 semapv:UnspecifiedMatching +OMIM:602767 KRT85 skos:exactMatch ncbigene:3891 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch UMLS:C0265343 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch UMLS:C1414071 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:2909 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:DLL3 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch ncbigene:10683 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C1414123 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:2978 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:DNMT3A semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch ncbigene:1788 semapv:UnspecifiedMatching +OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:1552 semapv:UnspecifiedMatching +OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:CBX2 semapv:UnspecifiedMatching +OMIM:602770 CBX2 skos:exactMatch ncbigene:84733 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch MONDO:0011271 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching +OMIM:602772 retinitis pigmentosa 25 skos:exactMatch MONDO:0011272 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch UMLS:C1424449 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:16628 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:SLC49A4 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch ncbigene:84925 semapv:UnspecifiedMatching +OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:9820 semapv:UnspecifiedMatching +OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:RAD51C semapv:UnspecifiedMatching +OMIM:602774 RAD51C skos:exactMatch ncbigene:5889 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch UMLS:C1423500 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:15454 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:SHOC2 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch ncbigene:8036 semapv:UnspecifiedMatching +OMIM:602776 REV3L skos:exactMatch hgnc.symbol:9968 semapv:UnspecifiedMatching +OMIM:602776 REV3L skos:exactMatch hgnc.symbol:REV3L semapv:UnspecifiedMatching +OMIM:602776 REV3L skos:exactMatch ncbigene:5980 semapv:UnspecifiedMatching +OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:11137 semapv:UnspecifiedMatching +OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:SNAPC4 semapv:UnspecifiedMatching +OMIM:602777 SNAPC4 skos:exactMatch ncbigene:6621 semapv:UnspecifiedMatching +OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:7985 semapv:UnspecifiedMatching +OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:NR6A1 semapv:UnspecifiedMatching +OMIM:602778 NR6A1 skos:exactMatch ncbigene:2649 semapv:UnspecifiedMatching +OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:3540 semapv:UnspecifiedMatching +OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:F2RL3 semapv:UnspecifiedMatching +OMIM:602779 F2RL3 skos:exactMatch ncbigene:9002 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch UMLS:C1415498 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:4845 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:HCN1 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch ncbigene:348980 semapv:UnspecifiedMatching +OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:4846 semapv:UnspecifiedMatching +OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:HCN2 semapv:UnspecifiedMatching +OMIM:602781 HCN2 skos:exactMatch ncbigene:610 semapv:UnspecifiedMatching +OMIM:602782 histiocytosis-lymphadenopathy plus syndrome skos:exactMatch MONDO:0011273 semapv:UnspecifiedMatching +OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:11237 semapv:UnspecifiedMatching +OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:SPG7 semapv:UnspecifiedMatching +OMIM:602783 SPG7 skos:exactMatch ncbigene:6687 semapv:UnspecifiedMatching +OMIM:602784 CORT skos:exactMatch hgnc.symbol:2257 semapv:UnspecifiedMatching +OMIM:602784 CORT skos:exactMatch hgnc.symbol:CORT semapv:UnspecifiedMatching +OMIM:602784 CORT skos:exactMatch ncbigene:1325 semapv:UnspecifiedMatching +OMIM:602785 H1FX skos:exactMatch hgnc.symbol:4722 semapv:UnspecifiedMatching +OMIM:602785 H1FX skos:exactMatch hgnc.symbol:H1-10 semapv:UnspecifiedMatching +OMIM:602785 H1FX skos:exactMatch ncbigene:8971 semapv:UnspecifiedMatching +OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:4724 semapv:UnspecifiedMatching +OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:H2AC8 semapv:UnspecifiedMatching +OMIM:602786 HIST1H2AE skos:exactMatch ncbigene:3012 semapv:UnspecifiedMatching +OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:4725 semapv:UnspecifiedMatching +OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:H2AC13 semapv:UnspecifiedMatching +OMIM:602787 HIST1H2AI skos:exactMatch ncbigene:8329 semapv:UnspecifiedMatching +OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:4726 semapv:UnspecifiedMatching +OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:H2AC15 semapv:UnspecifiedMatching +OMIM:602788 HIST1H2AK skos:exactMatch ncbigene:8330 semapv:UnspecifiedMatching +OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:3704 semapv:UnspecifiedMatching +OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:FHL3 semapv:UnspecifiedMatching +OMIM:602790 FHL3 skos:exactMatch ncbigene:2275 semapv:UnspecifiedMatching +OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:4727 semapv:UnspecifiedMatching +OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:H2AC14 semapv:UnspecifiedMatching +OMIM:602791 HIST1H2AJ skos:exactMatch ncbigene:8331 semapv:UnspecifiedMatching +OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:4729 semapv:UnspecifiedMatching +OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:H2AC7 semapv:UnspecifiedMatching +OMIM:602792 HIST1H2AD skos:exactMatch ncbigene:3013 semapv:UnspecifiedMatching +OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:4730 semapv:UnspecifiedMatching +OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:H2AC16 semapv:UnspecifiedMatching +OMIM:602793 HIST1H2AL skos:exactMatch ncbigene:8332 semapv:UnspecifiedMatching +OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:4733 semapv:UnspecifiedMatching +OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:H2AC6 semapv:UnspecifiedMatching +OMIM:602794 HIST1H2AC skos:exactMatch ncbigene:8334 semapv:UnspecifiedMatching +OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:4734 semapv:UnspecifiedMatching +OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:H2AC4 semapv:UnspecifiedMatching +OMIM:602795 HIST1H2AB skos:exactMatch ncbigene:8335 semapv:UnspecifiedMatching +OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:4735 semapv:UnspecifiedMatching +OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:H2AC17 semapv:UnspecifiedMatching +OMIM:602796 HIST1H2AM skos:exactMatch ncbigene:8336 semapv:UnspecifiedMatching +OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:4738 semapv:UnspecifiedMatching +OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:H2AC20 semapv:UnspecifiedMatching +OMIM:602797 HIST2H2AC skos:exactMatch ncbigene:8338 semapv:UnspecifiedMatching +OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:4746 semapv:UnspecifiedMatching +OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:H2BC8 semapv:UnspecifiedMatching +OMIM:602798 HIST1H2BG skos:exactMatch ncbigene:8339 semapv:UnspecifiedMatching +OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:4747 semapv:UnspecifiedMatching +OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:H2BC5 semapv:UnspecifiedMatching +OMIM:602799 HIST1H2BD skos:exactMatch ncbigene:3017 semapv:UnspecifiedMatching +OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:4748 semapv:UnspecifiedMatching +OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:H2BC13 semapv:UnspecifiedMatching +OMIM:602800 HIST1H2BL skos:exactMatch ncbigene:8340 semapv:UnspecifiedMatching +OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:4749 semapv:UnspecifiedMatching +OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:H2BC15 semapv:UnspecifiedMatching +OMIM:602801 HIST1H2BN skos:exactMatch ncbigene:8341 semapv:UnspecifiedMatching +OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:4750 semapv:UnspecifiedMatching +OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:H2BC14 semapv:UnspecifiedMatching +OMIM:602802 HIST1H2BM skos:exactMatch ncbigene:8342 semapv:UnspecifiedMatching +OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:4751 semapv:UnspecifiedMatching +OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:H2BC3 semapv:UnspecifiedMatching +OMIM:602803 HIST1H2BB skos:exactMatch ncbigene:3018 semapv:UnspecifiedMatching +OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:4752 semapv:UnspecifiedMatching +OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:H2BC7 semapv:UnspecifiedMatching +OMIM:602804 HIST1H2BF skos:exactMatch ncbigene:8343 semapv:UnspecifiedMatching +OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:4753 semapv:UnspecifiedMatching +OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:H2BC6 semapv:UnspecifiedMatching +OMIM:602805 HIST1H2BE skos:exactMatch ncbigene:8344 semapv:UnspecifiedMatching +OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:4755 semapv:UnspecifiedMatching +OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:H2BC9 semapv:UnspecifiedMatching +OMIM:602806 HIST1H2BH skos:exactMatch ncbigene:8345 semapv:UnspecifiedMatching +OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:4756 semapv:UnspecifiedMatching +OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:H2BC10 semapv:UnspecifiedMatching +OMIM:602807 HIST1H2BI skos:exactMatch ncbigene:8346 semapv:UnspecifiedMatching +OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:4758 semapv:UnspecifiedMatching +OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:H2BC17 semapv:UnspecifiedMatching +OMIM:602808 HIST1H2BO skos:exactMatch ncbigene:8348 semapv:UnspecifiedMatching +OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:6324 semapv:UnspecifiedMatching +OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:KIF5B semapv:UnspecifiedMatching +OMIM:602809 KIF5B skos:exactMatch ncbigene:3799 semapv:UnspecifiedMatching +OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:4766 semapv:UnspecifiedMatching +OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:H3C1 semapv:UnspecifiedMatching +OMIM:602810 HIST1H3A skos:exactMatch ncbigene:8350 semapv:UnspecifiedMatching +OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:4767 semapv:UnspecifiedMatching +OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:H3C4 semapv:UnspecifiedMatching +OMIM:602811 HIST1H3D skos:exactMatch ncbigene:8351 semapv:UnspecifiedMatching +OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:4768 semapv:UnspecifiedMatching +OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:H3C3 semapv:UnspecifiedMatching +OMIM:602812 HIST1H3C skos:exactMatch ncbigene:8352 semapv:UnspecifiedMatching +OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:4769 semapv:UnspecifiedMatching +OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:H3C6 semapv:UnspecifiedMatching +OMIM:602813 HIST1H3E skos:exactMatch ncbigene:8353 semapv:UnspecifiedMatching +OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:4771 semapv:UnspecifiedMatching +OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:H3C11 semapv:UnspecifiedMatching +OMIM:602814 HIST1H3I skos:exactMatch ncbigene:8354 semapv:UnspecifiedMatching +OMIM:602815 HIST1H3G skos:exactMatch hgnc.symbol:4772 semapv:UnspecifiedMatching +OMIM:602815 HIST1H3G skos:exactMatch hgnc.symbol:H3C8 semapv:UnspecifiedMatching +OMIM:602815 HIST1H3G skos:exactMatch ncbigene:8355 semapv:UnspecifiedMatching +OMIM:602816 HIST1H3F skos:exactMatch hgnc.symbol:4773 semapv:UnspecifiedMatching +OMIM:602816 HIST1H3F skos:exactMatch hgnc.symbol:H3C7 semapv:UnspecifiedMatching +OMIM:602816 HIST1H3F skos:exactMatch ncbigene:8968 semapv:UnspecifiedMatching +OMIM:602817 HIST1H3J skos:exactMatch hgnc.symbol:4774 semapv:UnspecifiedMatching +OMIM:602817 HIST1H3J skos:exactMatch hgnc.symbol:H3C12 semapv:UnspecifiedMatching +OMIM:602817 HIST1H3J skos:exactMatch ncbigene:8356 semapv:UnspecifiedMatching +OMIM:602818 HIST1H3H skos:exactMatch hgnc.symbol:4775 semapv:UnspecifiedMatching +OMIM:602818 HIST1H3H skos:exactMatch hgnc.symbol:H3C10 semapv:UnspecifiedMatching +OMIM:602818 HIST1H3H skos:exactMatch ncbigene:8357 semapv:UnspecifiedMatching +OMIM:602819 HIST1H3B skos:exactMatch hgnc.symbol:4776 semapv:UnspecifiedMatching +OMIM:602819 HIST1H3B skos:exactMatch hgnc.symbol:H3C2 semapv:UnspecifiedMatching +OMIM:602819 HIST1H3B skos:exactMatch ncbigene:8358 semapv:UnspecifiedMatching +OMIM:602820 HIST3H3 skos:exactMatch hgnc.symbol:4778 semapv:UnspecifiedMatching +OMIM:602820 HIST3H3 skos:exactMatch hgnc.symbol:H3-4 semapv:UnspecifiedMatching +OMIM:602820 HIST3H3 skos:exactMatch ncbigene:8290 semapv:UnspecifiedMatching +OMIM:602821 KIF5A skos:exactMatch hgnc.symbol:6323 semapv:UnspecifiedMatching +OMIM:602821 KIF5A skos:exactMatch hgnc.symbol:KIF5A semapv:UnspecifiedMatching +OMIM:602821 KIF5A skos:exactMatch ncbigene:3798 semapv:UnspecifiedMatching +OMIM:602822 H4C1 skos:exactMatch hgnc.symbol:4781 semapv:UnspecifiedMatching +OMIM:602822 H4C1 skos:exactMatch hgnc.symbol:H4C1 semapv:UnspecifiedMatching +OMIM:602822 H4C1 skos:exactMatch ncbigene:8359 semapv:UnspecifiedMatching +OMIM:602823 H4C4 skos:exactMatch hgnc.symbol:4782 semapv:UnspecifiedMatching +OMIM:602823 H4C4 skos:exactMatch hgnc.symbol:H4C4 semapv:UnspecifiedMatching +OMIM:602823 H4C4 skos:exactMatch ncbigene:8360 semapv:UnspecifiedMatching +OMIM:602824 H4C6 skos:exactMatch hgnc.symbol:4783 semapv:UnspecifiedMatching +OMIM:602824 H4C6 skos:exactMatch hgnc.symbol:H4C6 semapv:UnspecifiedMatching +OMIM:602824 H4C6 skos:exactMatch ncbigene:8361 semapv:UnspecifiedMatching +OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:4784 semapv:UnspecifiedMatching +OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:H4C12 semapv:UnspecifiedMatching +OMIM:602825 H4C12 skos:exactMatch ncbigene:8362 semapv:UnspecifiedMatching +OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:4785 semapv:UnspecifiedMatching +OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:H4C11 semapv:UnspecifiedMatching +OMIM:602826 H4C11 skos:exactMatch ncbigene:8363 semapv:UnspecifiedMatching +OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:4787 semapv:UnspecifiedMatching +OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:H4C3 semapv:UnspecifiedMatching +OMIM:602827 H4C3 skos:exactMatch ncbigene:8364 semapv:UnspecifiedMatching +OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:4788 semapv:UnspecifiedMatching +OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:H4C8 semapv:UnspecifiedMatching +OMIM:602828 H4C8 skos:exactMatch ncbigene:8365 semapv:UnspecifiedMatching +OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:4789 semapv:UnspecifiedMatching +OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:H4C2 semapv:UnspecifiedMatching +OMIM:602829 H4C2 skos:exactMatch ncbigene:8366 semapv:UnspecifiedMatching +OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:4790 semapv:UnspecifiedMatching +OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:H4C5 semapv:UnspecifiedMatching +OMIM:602830 H4C5 skos:exactMatch ncbigene:8367 semapv:UnspecifiedMatching +OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:4791 semapv:UnspecifiedMatching +OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:H4C13 semapv:UnspecifiedMatching +OMIM:602831 H4C13 skos:exactMatch ncbigene:8368 semapv:UnspecifiedMatching +OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:4792 semapv:UnspecifiedMatching +OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:H4C7 semapv:UnspecifiedMatching +OMIM:602832 H4C7 skos:exactMatch ncbigene:8369 semapv:UnspecifiedMatching +OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:4793 semapv:UnspecifiedMatching +OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:H4C9 semapv:UnspecifiedMatching +OMIM:602833 H4C9 skos:exactMatch ncbigene:8294 semapv:UnspecifiedMatching +OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:4167 semapv:UnspecifiedMatching +OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:GAS2 semapv:UnspecifiedMatching +OMIM:602835 GAS2 skos:exactMatch ncbigene:2620 semapv:UnspecifiedMatching +OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:8536 semapv:UnspecifiedMatching +OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:P2RX5 semapv:UnspecifiedMatching +OMIM:602836 P2RX5 skos:exactMatch ncbigene:5026 semapv:UnspecifiedMatching +OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:5229 semapv:UnspecifiedMatching +OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:DNAJA1 semapv:UnspecifiedMatching +OMIM:602837 DNAJA1 skos:exactMatch ncbigene:3301 semapv:UnspecifiedMatching +OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:8972 semapv:UnspecifiedMatching +OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:PIK3C2B semapv:UnspecifiedMatching +OMIM:602838 PIK3C2B skos:exactMatch ncbigene:5287 semapv:UnspecifiedMatching +OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:8977 semapv:UnspecifiedMatching +OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:PIK3CD semapv:UnspecifiedMatching +OMIM:602839 PIK3CD skos:exactMatch ncbigene:5293 semapv:UnspecifiedMatching +OMIM:602840 CD70 skos:exactMatch hgnc.symbol:11937 semapv:UnspecifiedMatching +OMIM:602840 CD70 skos:exactMatch hgnc.symbol:CD70 semapv:UnspecifiedMatching +OMIM:602840 CD70 skos:exactMatch ncbigene:970 semapv:UnspecifiedMatching +OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:553 semapv:UnspecifiedMatching +OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:AOX1 semapv:UnspecifiedMatching +OMIM:602841 AOX1 skos:exactMatch ncbigene:316 semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch UMLS:C1333683 semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch hgnc.symbol:17493 semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch hgnc.symbol:GMNN semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch ncbigene:51053 semapv:UnspecifiedMatching +OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:679 semapv:UnspecifiedMatching +OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:ARHGDIB semapv:UnspecifiedMatching +OMIM:602843 ARHGDIB skos:exactMatch ncbigene:397 semapv:UnspecifiedMatching +OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:680 semapv:UnspecifiedMatching +OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:ARHGDIG semapv:UnspecifiedMatching +OMIM:602844 ARHGDIG skos:exactMatch ncbigene:398 semapv:UnspecifiedMatching +OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:6321 semapv:UnspecifiedMatching +OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:KIF3C semapv:UnspecifiedMatching +OMIM:602845 KIF3C skos:exactMatch ncbigene:3797 semapv:UnspecifiedMatching +OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:4914 semapv:UnspecifiedMatching +OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:UBE2K semapv:UnspecifiedMatching +OMIM:602846 UBE2K skos:exactMatch ncbigene:3093 semapv:UnspecifiedMatching +OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:4757 semapv:UnspecifiedMatching +OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:H2BC4 semapv:UnspecifiedMatching +OMIM:602847 HIST1H2BC skos:exactMatch ncbigene:8347 semapv:UnspecifiedMatching +OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:19874 semapv:UnspecifiedMatching +OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:BRD8 semapv:UnspecifiedMatching +OMIM:602848 BRD8 skos:exactMatch ncbigene:10902 semapv:UnspecifiedMatching +OMIM:602849 muenke syndrome skos:exactMatch MONDO:0011274 semapv:UnspecifiedMatching +OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:10067 semapv:UnspecifiedMatching +OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:RNF4 semapv:UnspecifiedMatching +OMIM:602850 RNF4 skos:exactMatch ncbigene:6047 semapv:UnspecifiedMatching +OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:17416 semapv:UnspecifiedMatching +OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:ADGRV1 semapv:UnspecifiedMatching +OMIM:602851 ADGRV1 skos:exactMatch ncbigene:84059 semapv:UnspecifiedMatching +OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:8049 semapv:UnspecifiedMatching +OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:NUDT2 semapv:UnspecifiedMatching +OMIM:602852 NUDT2 skos:exactMatch ncbigene:318 semapv:UnspecifiedMatching +OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:9680 semapv:UnspecifiedMatching +OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:PTPRR semapv:UnspecifiedMatching +OMIM:602853 PTPRR skos:exactMatch ncbigene:5801 semapv:UnspecifiedMatching +OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:9530 semapv:UnspecifiedMatching +OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:PSMA1 semapv:UnspecifiedMatching +OMIM:602854 PSMA1 skos:exactMatch ncbigene:5682 semapv:UnspecifiedMatching +OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:9535 semapv:UnspecifiedMatching +OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:PSMA6 semapv:UnspecifiedMatching +OMIM:602855 PSMA6 skos:exactMatch ncbigene:5687 semapv:UnspecifiedMatching +OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:9992 semapv:UnspecifiedMatching +OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:RGS10 semapv:UnspecifiedMatching +OMIM:602856 RGS10 skos:exactMatch ncbigene:6001 semapv:UnspecifiedMatching +OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:1944 semapv:UnspecifiedMatching +OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:CHN2 semapv:UnspecifiedMatching +OMIM:602857 CHN2 skos:exactMatch ncbigene:1124 semapv:UnspecifiedMatching +OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:2860 semapv:UnspecifiedMatching +OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:DHCR7 semapv:UnspecifiedMatching +OMIM:602858 DHCR7 skos:exactMatch ncbigene:1717 semapv:UnspecifiedMatching +OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:8851 semapv:UnspecifiedMatching +OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:PEX10 semapv:UnspecifiedMatching +OMIM:602859 PEX10 skos:exactMatch ncbigene:5192 semapv:UnspecifiedMatching +OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:1149 semapv:UnspecifiedMatching +OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:BUB1B semapv:UnspecifiedMatching +OMIM:602860 BUB1B skos:exactMatch ncbigene:701 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch UMLS:C1418613 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:9024 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:PKP2 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch ncbigene:5318 semapv:UnspecifiedMatching +OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:12457 semapv:UnspecifiedMatching +OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:UAP1 semapv:UnspecifiedMatching +OMIM:602862 UAP1 skos:exactMatch ncbigene:6675 semapv:UnspecifiedMatching +OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:12778 semapv:UnspecifiedMatching +OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:WNT9A semapv:UnspecifiedMatching +OMIM:602863 WNT9A skos:exactMatch ncbigene:7483 semapv:UnspecifiedMatching +OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:12779 semapv:UnspecifiedMatching +OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:WNT9B semapv:UnspecifiedMatching +OMIM:602864 WNT9B skos:exactMatch ncbigene:7484 semapv:UnspecifiedMatching +OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:2687 semapv:UnspecifiedMatching +OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:BRINP1 semapv:UnspecifiedMatching +OMIM:602865 BRINP1 skos:exactMatch ncbigene:1620 semapv:UnspecifiedMatching +OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:100 semapv:UnspecifiedMatching +OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:ASIC1 semapv:UnspecifiedMatching +OMIM:602866 ASIC1 skos:exactMatch ncbigene:41 semapv:UnspecifiedMatching +OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:5476 semapv:UnspecifiedMatching +OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:IGFBP7 semapv:UnspecifiedMatching +OMIM:602867 IGFBP7 skos:exactMatch ncbigene:3490 semapv:UnspecifiedMatching +OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:1743 semapv:UnspecifiedMatching +OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:CDC5L semapv:UnspecifiedMatching +OMIM:602868 CDC5L skos:exactMatch ncbigene:988 semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch UMLS:C1415649 semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:5048 semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:HNRNPU semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch ncbigene:3192 semapv:UnspecifiedMatching +OMIM:602870 IMPG1 skos:exactMatch hgnc.symbol:6055 semapv:UnspecifiedMatching +OMIM:602870 IMPG1 skos:exactMatch hgnc.symbol:IMPG1 semapv:UnspecifiedMatching +OMIM:602870 IMPG1 skos:exactMatch ncbigene:3617 semapv:UnspecifiedMatching +OMIM:602871 PPL skos:exactMatch hgnc.symbol:9273 semapv:UnspecifiedMatching +OMIM:602871 PPL skos:exactMatch hgnc.symbol:PPL semapv:UnspecifiedMatching +OMIM:602871 PPL skos:exactMatch ncbigene:5493 semapv:UnspecifiedMatching +OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:2062 semapv:UnspecifiedMatching +OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:CLIC1 semapv:UnspecifiedMatching +OMIM:602872 CLIC1 skos:exactMatch ncbigene:1192 semapv:UnspecifiedMatching +OMIM:602873 NRAP skos:exactMatch hgnc.symbol:7988 semapv:UnspecifiedMatching +OMIM:602873 NRAP skos:exactMatch hgnc.symbol:NRAP semapv:UnspecifiedMatching +OMIM:602873 NRAP skos:exactMatch ncbigene:4892 semapv:UnspecifiedMatching +OMIM:602874 UGCG skos:exactMatch hgnc.symbol:12524 semapv:UnspecifiedMatching +OMIM:602874 UGCG skos:exactMatch hgnc.symbol:UGCG semapv:UnspecifiedMatching +OMIM:602874 UGCG skos:exactMatch ncbigene:7357 semapv:UnspecifiedMatching +OMIM:602875 acromesomelic dysplasia 1 skos:exactMatch MONDO:0011275 semapv:UnspecifiedMatching +OMIM:602876 OCLN skos:exactMatch hgnc.symbol:8104 semapv:UnspecifiedMatching +OMIM:602876 OCLN skos:exactMatch hgnc.symbol:OCLN semapv:UnspecifiedMatching +OMIM:602876 OCLN skos:exactMatch ncbigene:100506658 semapv:UnspecifiedMatching +OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:9295 semapv:UnspecifiedMatching +OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:PPP1R7 semapv:UnspecifiedMatching +OMIM:602877 PPP1R7 skos:exactMatch ncbigene:5510 semapv:UnspecifiedMatching +OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:11014 semapv:UnspecifiedMatching +OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:SLC30A3 semapv:UnspecifiedMatching +OMIM:602878 SLC30A3 skos:exactMatch ncbigene:7781 semapv:UnspecifiedMatching +OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:3378 semapv:UnspecifiedMatching +OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:EPB41L1 semapv:UnspecifiedMatching +OMIM:602879 EPB41L1 skos:exactMatch ncbigene:2036 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C0040761 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C1415031 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:4214 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:GDF1 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch ncbigene:2657 semapv:UnspecifiedMatching +OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:8919 semapv:UnspecifiedMatching +OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:PHF1 semapv:UnspecifiedMatching +OMIM:602881 PHF1 skos:exactMatch ncbigene:5252 semapv:UnspecifiedMatching +OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:6550 semapv:UnspecifiedMatching +OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:LECT2 semapv:UnspecifiedMatching +OMIM:602882 LECT2 skos:exactMatch ncbigene:3950 semapv:UnspecifiedMatching +OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:10956 semapv:UnspecifiedMatching +OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:SLCO1A2 semapv:UnspecifiedMatching +OMIM:602883 SLCO1A2 skos:exactMatch ncbigene:6579 semapv:UnspecifiedMatching +OMIM:602884 GMDS skos:exactMatch hgnc.symbol:4369 semapv:UnspecifiedMatching +OMIM:602884 GMDS skos:exactMatch hgnc.symbol:GMDS semapv:UnspecifiedMatching +OMIM:602884 GMDS skos:exactMatch ncbigene:2762 semapv:UnspecifiedMatching +OMIM:602885 MLNR skos:exactMatch hgnc.symbol:4495 semapv:UnspecifiedMatching +OMIM:602885 MLNR skos:exactMatch hgnc.symbol:MLNR semapv:UnspecifiedMatching +OMIM:602885 MLNR skos:exactMatch ncbigene:2862 semapv:UnspecifiedMatching +OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:4496 semapv:UnspecifiedMatching +OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:GPR39 semapv:UnspecifiedMatching +OMIM:602886 GPR39 skos:exactMatch ncbigene:2863 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch UMLS:C1333226 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:2903 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:DLG4 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch ncbigene:1742 semapv:UnspecifiedMatching +OMIM:602888 BHMT skos:exactMatch hgnc.symbol:1047 semapv:UnspecifiedMatching +OMIM:602888 BHMT skos:exactMatch hgnc.symbol:BHMT semapv:UnspecifiedMatching +OMIM:602888 BHMT skos:exactMatch ncbigene:635 semapv:UnspecifiedMatching +OMIM:602890 KLRB1 skos:exactMatch hgnc.symbol:6373 semapv:UnspecifiedMatching +OMIM:602890 KLRB1 skos:exactMatch hgnc.symbol:KLRB1 semapv:UnspecifiedMatching +OMIM:602890 KLRB1 skos:exactMatch ncbigene:3820 semapv:UnspecifiedMatching +OMIM:602891 KLRC2 skos:exactMatch hgnc.symbol:6375 semapv:UnspecifiedMatching +OMIM:602891 KLRC2 skos:exactMatch hgnc.symbol:KLRC2 semapv:UnspecifiedMatching +OMIM:602891 KLRC2 skos:exactMatch ncbigene:3822 semapv:UnspecifiedMatching +OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:6376 semapv:UnspecifiedMatching +OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:KLRC3 semapv:UnspecifiedMatching +OMIM:602892 KLRC3 skos:exactMatch ncbigene:3823 semapv:UnspecifiedMatching +OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:6377 semapv:UnspecifiedMatching +OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:KLRC4 semapv:UnspecifiedMatching +OMIM:602893 KLRC4 skos:exactMatch ncbigene:8302 semapv:UnspecifiedMatching +OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:6378 semapv:UnspecifiedMatching +OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:KLRD1 semapv:UnspecifiedMatching +OMIM:602894 KLRD1 skos:exactMatch ncbigene:3824 semapv:UnspecifiedMatching +OMIM:602895 SAFB skos:exactMatch hgnc.symbol:10520 semapv:UnspecifiedMatching +OMIM:602895 SAFB skos:exactMatch hgnc.symbol:SAFB semapv:UnspecifiedMatching +OMIM:602895 SAFB skos:exactMatch ncbigene:6294 semapv:UnspecifiedMatching +OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:6886 semapv:UnspecifiedMatching +OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:MAPK9 semapv:UnspecifiedMatching +OMIM:602896 MAPK9 skos:exactMatch ncbigene:5601 semapv:UnspecifiedMatching +OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:6872 semapv:UnspecifiedMatching +OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:MAPK10 semapv:UnspecifiedMatching +OMIM:602897 MAPK10 skos:exactMatch ncbigene:5602 semapv:UnspecifiedMatching +OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:6873 semapv:UnspecifiedMatching +OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:MAPK11 semapv:UnspecifiedMatching +OMIM:602898 MAPK11 skos:exactMatch ncbigene:5600 semapv:UnspecifiedMatching +OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:6875 semapv:UnspecifiedMatching +OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:MAPK13 semapv:UnspecifiedMatching +OMIM:602899 MAPK13 skos:exactMatch ncbigene:5603 semapv:UnspecifiedMatching +OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:2979 semapv:UnspecifiedMatching +OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:DNMT3B semapv:UnspecifiedMatching +OMIM:602900 DNMT3B skos:exactMatch ncbigene:1789 semapv:UnspecifiedMatching +OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:6401 semapv:UnspecifiedMatching +OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:TNPO1 semapv:UnspecifiedMatching +OMIM:602901 TNPO1 skos:exactMatch ncbigene:3842 semapv:UnspecifiedMatching +OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:1123 semapv:UnspecifiedMatching +OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:KLF9 semapv:UnspecifiedMatching +OMIM:602902 KLF9 skos:exactMatch ncbigene:687 semapv:UnspecifiedMatching +OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:6349 semapv:UnspecifiedMatching +OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:KLF5 semapv:UnspecifiedMatching +OMIM:602903 KLF5 skos:exactMatch ncbigene:688 semapv:UnspecifiedMatching +OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:6879 semapv:UnspecifiedMatching +OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:MAPK6 semapv:UnspecifiedMatching +OMIM:602904 MAPK6 skos:exactMatch ncbigene:5597 semapv:UnspecifiedMatching +OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:6300 semapv:UnspecifiedMatching +OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:KCNS1 semapv:UnspecifiedMatching +OMIM:602905 KCNS1 skos:exactMatch ncbigene:3787 semapv:UnspecifiedMatching +OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:6301 semapv:UnspecifiedMatching +OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:KCNS2 semapv:UnspecifiedMatching +OMIM:602906 KCNS2 skos:exactMatch ncbigene:3788 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch UMLS:C1413352 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:1868 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:CETN3 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch ncbigene:1070 semapv:UnspecifiedMatching +OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:9892 semapv:UnspecifiedMatching +OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:RBBP9 semapv:UnspecifiedMatching +OMIM:602908 RBBP9 skos:exactMatch ncbigene:10741 semapv:UnspecifiedMatching +OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:2046 semapv:UnspecifiedMatching +OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:CLDN4 semapv:UnspecifiedMatching +OMIM:602909 CLDN4 skos:exactMatch ncbigene:1364 semapv:UnspecifiedMatching +OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:2045 semapv:UnspecifiedMatching +OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:CLDN3 semapv:UnspecifiedMatching +OMIM:602910 CLDN3 skos:exactMatch ncbigene:1365 semapv:UnspecifiedMatching +OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:1406 semapv:UnspecifiedMatching +OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:CACNG2 semapv:UnspecifiedMatching +OMIM:602911 CACNG2 skos:exactMatch ncbigene:10369 semapv:UnspecifiedMatching +OMIM:602912 EIF6 skos:exactMatch UMLS:C1416500 semapv:UnspecifiedMatching +OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:6159 semapv:UnspecifiedMatching +OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:EIF6 semapv:UnspecifiedMatching +OMIM:602912 EIF6 skos:exactMatch ncbigene:3692 semapv:UnspecifiedMatching +OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:2154 semapv:UnspecifiedMatching +OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:PLK3 semapv:UnspecifiedMatching +OMIM:602913 PLK3 skos:exactMatch ncbigene:1263 semapv:UnspecifiedMatching +OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:643 semapv:UnspecifiedMatching +OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:AQP9 semapv:UnspecifiedMatching +OMIM:602914 AQP9 skos:exactMatch ncbigene:366 semapv:UnspecifiedMatching +OMIM:602915 GET1 skos:exactMatch hgnc.symbol:12790 semapv:UnspecifiedMatching +OMIM:602915 GET1 skos:exactMatch hgnc.symbol:GET1 semapv:UnspecifiedMatching +OMIM:602915 GET1 skos:exactMatch ncbigene:7485 semapv:UnspecifiedMatching +OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:12477 semapv:UnspecifiedMatching +OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:UBE2E1 semapv:UnspecifiedMatching +OMIM:602916 UBE2E1 skos:exactMatch ncbigene:7324 semapv:UnspecifiedMatching +OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:3040 semapv:UnspecifiedMatching +OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:RCAN1 semapv:UnspecifiedMatching +OMIM:602917 RCAN1 skos:exactMatch ncbigene:1827 semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch UMLS:C1414534 semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch hgnc.symbol:3592 semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch hgnc.symbol:FARSA semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch ncbigene:2193 semapv:UnspecifiedMatching +OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:2990 semapv:UnspecifiedMatching +OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:DOK1 semapv:UnspecifiedMatching +OMIM:602919 DOK1 skos:exactMatch ncbigene:1796 semapv:UnspecifiedMatching +OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:6513 semapv:UnspecifiedMatching +OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:LASP1 semapv:UnspecifiedMatching +OMIM:602920 LASP1 skos:exactMatch ncbigene:3927 semapv:UnspecifiedMatching +OMIM:602921 PSPN skos:exactMatch hgnc.symbol:9579 semapv:UnspecifiedMatching +OMIM:602921 PSPN skos:exactMatch hgnc.symbol:PSPN semapv:UnspecifiedMatching +OMIM:602921 PSPN skos:exactMatch ncbigene:5623 semapv:UnspecifiedMatching +OMIM:602923 RBBP4 skos:exactMatch hgnc.symbol:9887 semapv:UnspecifiedMatching +OMIM:602923 RBBP4 skos:exactMatch hgnc.symbol:RBBP4 semapv:UnspecifiedMatching +OMIM:602923 RBBP4 skos:exactMatch ncbigene:5928 semapv:UnspecifiedMatching +OMIM:602924 RND3 skos:exactMatch hgnc.symbol:671 semapv:UnspecifiedMatching +OMIM:602924 RND3 skos:exactMatch hgnc.symbol:RND3 semapv:UnspecifiedMatching +OMIM:602924 RND3 skos:exactMatch ncbigene:390 semapv:UnspecifiedMatching +OMIM:602925 PIK3CB skos:exactMatch hgnc.symbol:8976 semapv:UnspecifiedMatching +OMIM:602925 PIK3CB skos:exactMatch hgnc.symbol:PIK3CB semapv:UnspecifiedMatching +OMIM:602925 PIK3CB skos:exactMatch ncbigene:5291 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch UMLS:C1420506 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch hgnc.symbol:11444 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch hgnc.symbol:STXBP1 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch ncbigene:6812 semapv:UnspecifiedMatching +OMIM:602927 GPR19 skos:exactMatch hgnc.symbol:4473 semapv:UnspecifiedMatching +OMIM:602927 GPR19 skos:exactMatch hgnc.symbol:GPR19 semapv:UnspecifiedMatching +OMIM:602927 GPR19 skos:exactMatch ncbigene:2842 semapv:UnspecifiedMatching +OMIM:602928 TMOD2 skos:exactMatch hgnc.symbol:11872 semapv:UnspecifiedMatching +OMIM:602928 TMOD2 skos:exactMatch hgnc.symbol:TMOD2 semapv:UnspecifiedMatching +OMIM:602928 TMOD2 skos:exactMatch ncbigene:29767 semapv:UnspecifiedMatching +OMIM:602929 VWA5A skos:exactMatch hgnc.symbol:6658 semapv:UnspecifiedMatching +OMIM:602929 VWA5A skos:exactMatch hgnc.symbol:VWA5A semapv:UnspecifiedMatching +OMIM:602929 VWA5A skos:exactMatch ncbigene:4013 semapv:UnspecifiedMatching +OMIM:602930 REXO4 skos:exactMatch UMLS:C1826806 semapv:UnspecifiedMatching +OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:12820 semapv:UnspecifiedMatching +OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:REXO4 semapv:UnspecifiedMatching +OMIM:602930 REXO4 skos:exactMatch ncbigene:57109 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch UMLS:C1334469 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch UMLS:C3542024 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch UMLS:C4479677 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:6772 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:SMAD6 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch ncbigene:4091 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch UMLS:C1334470 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch UMLS:C2677123 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch hgnc.symbol:6773 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch hgnc.symbol:SMAD7 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch ncbigene:4092 semapv:UnspecifiedMatching +OMIM:602933 TRIP6 skos:exactMatch hgnc.symbol:12311 semapv:UnspecifiedMatching +OMIM:602933 TRIP6 skos:exactMatch hgnc.symbol:TRIP6 semapv:UnspecifiedMatching +OMIM:602933 TRIP6 skos:exactMatch ncbigene:7205 semapv:UnspecifiedMatching +OMIM:602934 SDF2 skos:exactMatch hgnc.symbol:10675 semapv:UnspecifiedMatching +OMIM:602934 SDF2 skos:exactMatch hgnc.symbol:SDF2 semapv:UnspecifiedMatching +OMIM:602934 SDF2 skos:exactMatch ncbigene:6388 semapv:UnspecifiedMatching +OMIM:602935 FAAH skos:exactMatch hgnc.symbol:3553 semapv:UnspecifiedMatching +OMIM:602935 FAAH skos:exactMatch hgnc.symbol:FAAH semapv:UnspecifiedMatching +OMIM:602935 FAAH skos:exactMatch ncbigene:2166 semapv:UnspecifiedMatching +OMIM:602937 CITED2 skos:exactMatch hgnc.symbol:1987 semapv:UnspecifiedMatching +OMIM:602937 CITED2 skos:exactMatch hgnc.symbol:CITED2 semapv:UnspecifiedMatching +OMIM:602937 CITED2 skos:exactMatch ncbigene:10370 semapv:UnspecifiedMatching +OMIM:602938 BAAT skos:exactMatch hgnc.symbol:932 semapv:UnspecifiedMatching +OMIM:602938 BAAT skos:exactMatch hgnc.symbol:BAAT semapv:UnspecifiedMatching +OMIM:602938 BAAT skos:exactMatch ncbigene:570 semapv:UnspecifiedMatching +OMIM:602939 FOXS1 skos:exactMatch hgnc.symbol:3735 semapv:UnspecifiedMatching +OMIM:602939 FOXS1 skos:exactMatch hgnc.symbol:FOXS1 semapv:UnspecifiedMatching +OMIM:602939 FOXS1 skos:exactMatch ncbigene:2307 semapv:UnspecifiedMatching +OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:7142 semapv:UnspecifiedMatching +OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:MARCKSL1 semapv:UnspecifiedMatching +OMIM:602940 MARCKSL1 skos:exactMatch ncbigene:65108 semapv:UnspecifiedMatching +OMIM:602941 BCAR1 skos:exactMatch UMLS:C1366459 semapv:UnspecifiedMatching +OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:971 semapv:UnspecifiedMatching +OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:BCAR1 semapv:UnspecifiedMatching +OMIM:602941 BCAR1 skos:exactMatch ncbigene:9564 semapv:UnspecifiedMatching +OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:3501 semapv:UnspecifiedMatching +OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:EVI5 semapv:UnspecifiedMatching +OMIM:602942 EVI5 skos:exactMatch ncbigene:7813 semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch UMLS:C1419603 semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch UMLS:C4225266 semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch hgnc.symbol:10260 semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch hgnc.symbol:RORC semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch ncbigene:6097 semapv:UnspecifiedMatching +OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:3120 semapv:UnspecifiedMatching +OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:E2F6 semapv:UnspecifiedMatching +OMIM:602944 E2F6 skos:exactMatch ncbigene:1876 semapv:UnspecifiedMatching +OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:19422 semapv:UnspecifiedMatching +OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:TADA3 semapv:UnspecifiedMatching +OMIM:602945 TADA3 skos:exactMatch ncbigene:10474 semapv:UnspecifiedMatching +OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:17305 semapv:UnspecifiedMatching +OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:TAF6L semapv:UnspecifiedMatching +OMIM:602946 TAF6L skos:exactMatch ncbigene:10629 semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch UMLS:C0812266 semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:11466 semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:SUPT3H semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch ncbigene:8464 semapv:UnspecifiedMatching +OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:9822 semapv:UnspecifiedMatching +OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:RAD51B semapv:UnspecifiedMatching +OMIM:602948 RAD51B skos:exactMatch ncbigene:5890 semapv:UnspecifiedMatching +OMIM:602949 SAP18 skos:exactMatch hgnc.symbol:10530 semapv:UnspecifiedMatching +OMIM:602949 SAP18 skos:exactMatch hgnc.symbol:SAP18 semapv:UnspecifiedMatching +OMIM:602949 SAP18 skos:exactMatch ncbigene:10284 semapv:UnspecifiedMatching +OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:5187 semapv:UnspecifiedMatching +OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:PRMT1 semapv:UnspecifiedMatching +OMIM:602950 PRMT1 skos:exactMatch ncbigene:3276 semapv:UnspecifiedMatching +OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:12863 semapv:UnspecifiedMatching +OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:ZFP37 semapv:UnspecifiedMatching +OMIM:602951 ZFP37 skos:exactMatch ncbigene:7539 semapv:UnspecifiedMatching +OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:12766 semapv:UnspecifiedMatching +OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:NSD2 semapv:UnspecifiedMatching +OMIM:602952 NSD2 skos:exactMatch ncbigene:7468 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch UMLS:C1415524 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:4880 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:HEY1 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch ncbigene:23462 semapv:UnspecifiedMatching +OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:9823 semapv:UnspecifiedMatching +OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:RAD51D semapv:UnspecifiedMatching +OMIM:602954 RAD51D skos:exactMatch ncbigene:5892 semapv:UnspecifiedMatching +OMIM:602955 TAF6 skos:exactMatch hgnc.symbol:11540 semapv:UnspecifiedMatching +OMIM:602955 TAF6 skos:exactMatch hgnc.symbol:TAF6 semapv:UnspecifiedMatching +OMIM:602955 TAF6 skos:exactMatch ncbigene:6878 semapv:UnspecifiedMatching +OMIM:602956 FANCG skos:exactMatch hgnc.symbol:3588 semapv:UnspecifiedMatching +OMIM:602956 FANCG skos:exactMatch hgnc.symbol:FANCG semapv:UnspecifiedMatching +OMIM:602956 FANCG skos:exactMatch ncbigene:2189 semapv:UnspecifiedMatching +OMIM:602957 CCL22 skos:exactMatch hgnc.symbol:10621 semapv:UnspecifiedMatching +OMIM:602957 CCL22 skos:exactMatch hgnc.symbol:CCL22 semapv:UnspecifiedMatching +OMIM:602957 CCL22 skos:exactMatch ncbigene:6367 semapv:UnspecifiedMatching +OMIM:602958 SGK1 skos:exactMatch hgnc.symbol:10810 semapv:UnspecifiedMatching +OMIM:602958 SGK1 skos:exactMatch hgnc.symbol:SGK1 semapv:UnspecifiedMatching +OMIM:602958 SGK1 skos:exactMatch ncbigene:6446 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch UMLS:C1414273 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:3192 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:EEF1A2 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch ncbigene:1917 semapv:UnspecifiedMatching +OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:12474 semapv:UnspecifiedMatching +OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:UBE2D1 semapv:UnspecifiedMatching +OMIM:602961 UBE2D1 skos:exactMatch ncbigene:7321 semapv:UnspecifiedMatching +OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:12475 semapv:UnspecifiedMatching +OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:UBE2D2 semapv:UnspecifiedMatching +OMIM:602962 UBE2D2 skos:exactMatch ncbigene:7322 semapv:UnspecifiedMatching +OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:12476 semapv:UnspecifiedMatching +OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:UBE2D3 semapv:UnspecifiedMatching +OMIM:602963 UBE2D3 skos:exactMatch ncbigene:7323 semapv:UnspecifiedMatching +OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:12380 semapv:UnspecifiedMatching +OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:TSNAX semapv:UnspecifiedMatching +OMIM:602964 TSNAX skos:exactMatch ncbigene:7257 semapv:UnspecifiedMatching +OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:3562 semapv:UnspecifiedMatching +OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:FABP7 semapv:UnspecifiedMatching +OMIM:602965 FABP7 skos:exactMatch ncbigene:2173 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch MONDO:0011276 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching +OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:13009 semapv:UnspecifiedMatching +OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:ZNF217 semapv:UnspecifiedMatching +OMIM:602967 ZNF217 skos:exactMatch ncbigene:7764 semapv:UnspecifiedMatching +OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:974 semapv:UnspecifiedMatching +OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:BCAS1 semapv:UnspecifiedMatching +OMIM:602968 BCAS1 skos:exactMatch ncbigene:8537 semapv:UnspecifiedMatching +OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:3474 semapv:UnspecifiedMatching +OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:ESRRG semapv:UnspecifiedMatching +OMIM:602969 ESRRG skos:exactMatch ncbigene:2104 semapv:UnspecifiedMatching +OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:6397 semapv:UnspecifiedMatching +OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:KPNA4 semapv:UnspecifiedMatching +OMIM:602970 KPNA4 skos:exactMatch ncbigene:3840 semapv:UnspecifiedMatching +OMIM:602971 TBCC skos:exactMatch hgnc.symbol:11580 semapv:UnspecifiedMatching +OMIM:602971 TBCC skos:exactMatch hgnc.symbol:TBCC semapv:UnspecifiedMatching +OMIM:602971 TBCC skos:exactMatch ncbigene:6903 semapv:UnspecifiedMatching +OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:8793 semapv:UnspecifiedMatching +OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:PDE8A semapv:UnspecifiedMatching +OMIM:602972 PDE8A skos:exactMatch ncbigene:5151 semapv:UnspecifiedMatching +OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:8795 semapv:UnspecifiedMatching +OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:PDE9A semapv:UnspecifiedMatching +OMIM:602973 PDE9A skos:exactMatch ncbigene:5152 semapv:UnspecifiedMatching +OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:640 semapv:UnspecifiedMatching +OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:AQP7 semapv:UnspecifiedMatching +OMIM:602974 AQP7 skos:exactMatch ncbigene:364 semapv:UnspecifiedMatching +OMIM:602976 MLX skos:exactMatch hgnc.symbol:11645 semapv:UnspecifiedMatching +OMIM:602976 MLX skos:exactMatch hgnc.symbol:MLX semapv:UnspecifiedMatching +OMIM:602976 MLX skos:exactMatch ncbigene:6945 semapv:UnspecifiedMatching +OMIM:602977 GP2 skos:exactMatch hgnc.symbol:4441 semapv:UnspecifiedMatching +OMIM:602977 GP2 skos:exactMatch hgnc.symbol:GP2 semapv:UnspecifiedMatching +OMIM:602977 GP2 skos:exactMatch ncbigene:2813 semapv:UnspecifiedMatching +OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:3182 semapv:UnspecifiedMatching +OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:PHC1 semapv:UnspecifiedMatching +OMIM:602978 PHC1 skos:exactMatch ncbigene:1911 semapv:UnspecifiedMatching +OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:3183 semapv:UnspecifiedMatching +OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:PHC2 semapv:UnspecifiedMatching +OMIM:602979 PHC2 skos:exactMatch ncbigene:1912 semapv:UnspecifiedMatching +OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:11306 semapv:UnspecifiedMatching +OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:SRPK2 semapv:UnspecifiedMatching +OMIM:602980 SRPK2 skos:exactMatch ncbigene:6733 semapv:UnspecifiedMatching +OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:303 semapv:UnspecifiedMatching +OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:AEBP1 semapv:UnspecifiedMatching +OMIM:602981 AEBP1 skos:exactMatch ncbigene:165 semapv:UnspecifiedMatching +OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:6290 semapv:UnspecifiedMatching +OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:KCNN1 semapv:UnspecifiedMatching +OMIM:602982 KCNN1 skos:exactMatch ncbigene:3780 semapv:UnspecifiedMatching +OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:6292 semapv:UnspecifiedMatching +OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:KCNN3 semapv:UnspecifiedMatching +OMIM:602983 KCNN3 skos:exactMatch ncbigene:3782 semapv:UnspecifiedMatching +OMIM:602984 MED6 skos:exactMatch hgnc.symbol:19970 semapv:UnspecifiedMatching +OMIM:602984 MED6 skos:exactMatch hgnc.symbol:MED6 semapv:UnspecifiedMatching +OMIM:602984 MED6 skos:exactMatch ncbigene:10001 semapv:UnspecifiedMatching +OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:7708 semapv:UnspecifiedMatching +OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:NDUFS2 semapv:UnspecifiedMatching +OMIM:602985 NDUFS2 skos:exactMatch ncbigene:4720 semapv:UnspecifiedMatching +OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:3030 semapv:UnspecifiedMatching +OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:DRG2 semapv:UnspecifiedMatching +OMIM:602986 DRG2 skos:exactMatch ncbigene:1819 semapv:UnspecifiedMatching +OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:8776 semapv:UnspecifiedMatching +OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:PDE1C semapv:UnspecifiedMatching +OMIM:602987 PDE1C skos:exactMatch ncbigene:5137 semapv:UnspecifiedMatching +OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:8659 semapv:UnspecifiedMatching +OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:PCDH7 semapv:UnspecifiedMatching +OMIM:602988 PCDH7 skos:exactMatch ncbigene:5099 semapv:UnspecifiedMatching +OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:2069 semapv:UnspecifiedMatching +OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:CLK2 semapv:UnspecifiedMatching +OMIM:602989 CLK2 skos:exactMatch ncbigene:1196 semapv:UnspecifiedMatching +OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:2071 semapv:UnspecifiedMatching +OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:CLK3 semapv:UnspecifiedMatching +OMIM:602990 CLK3 skos:exactMatch ncbigene:1198 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch UMLS:C0342282 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch UMLS:C1417753 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch UMLS:C1861305 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch UMLS:C1866656 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch UMLS:C3714899 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch hgnc.symbol:7866 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch hgnc.symbol:NOG semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch ncbigene:9241 semapv:UnspecifiedMatching +OMIM:602992 LAIR1 skos:exactMatch hgnc.symbol:6477 semapv:UnspecifiedMatching +OMIM:602992 LAIR1 skos:exactMatch hgnc.symbol:LAIR1 semapv:UnspecifiedMatching +OMIM:602992 LAIR1 skos:exactMatch ncbigene:3903 semapv:UnspecifiedMatching +OMIM:602993 LAIR2 skos:exactMatch hgnc.symbol:6478 semapv:UnspecifiedMatching +OMIM:602993 LAIR2 skos:exactMatch hgnc.symbol:LAIR2 semapv:UnspecifiedMatching +OMIM:602993 LAIR2 skos:exactMatch ncbigene:3904 semapv:UnspecifiedMatching +OMIM:602994 leukoregulin skos:exactMatch MONDO:0011277 semapv:UnspecifiedMatching +OMIM:602995 UBE2V1 skos:exactMatch hgnc.symbol:12494 semapv:UnspecifiedMatching +OMIM:602995 UBE2V1 skos:exactMatch hgnc.symbol:UBE2V1 semapv:UnspecifiedMatching +OMIM:602995 UBE2V1 skos:exactMatch ncbigene:7335 semapv:UnspecifiedMatching +OMIM:602996 IER3 skos:exactMatch hgnc.symbol:5392 semapv:UnspecifiedMatching +OMIM:602996 IER3 skos:exactMatch hgnc.symbol:IER3 semapv:UnspecifiedMatching +OMIM:602996 IER3 skos:exactMatch ncbigene:8870 semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch UMLS:C1413823 semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch hgnc.symbol:2548 semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch hgnc.symbol:CUBN semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch ncbigene:8029 semapv:UnspecifiedMatching +OMIM:602998 SNCG skos:exactMatch hgnc.symbol:11141 semapv:UnspecifiedMatching +OMIM:602998 SNCG skos:exactMatch hgnc.symbol:SNCG semapv:UnspecifiedMatching +OMIM:602998 SNCG skos:exactMatch ncbigene:6623 semapv:UnspecifiedMatching +OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:9293 semapv:UnspecifiedMatching +OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:PPP1R3C semapv:UnspecifiedMatching +OMIM:602999 PPP1R3C skos:exactMatch ncbigene:5507 semapv:UnspecifiedMatching +OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:5359 semapv:UnspecifiedMatching +OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:MRPL58 semapv:UnspecifiedMatching +OMIM:603000 MRPL58 skos:exactMatch ncbigene:3396 semapv:UnspecifiedMatching +OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:12495 semapv:UnspecifiedMatching +OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:UBE2V2 semapv:UnspecifiedMatching +OMIM:603001 UBE2V2 skos:exactMatch ncbigene:7336 semapv:UnspecifiedMatching +OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:19998 semapv:UnspecifiedMatching +OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:TNPO2 semapv:UnspecifiedMatching +OMIM:603002 TNPO2 skos:exactMatch ncbigene:30000 semapv:UnspecifiedMatching +OMIM:603003 bile duct cysts skos:exactMatch MONDO:0018805 semapv:UnspecifiedMatching +OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:4179 semapv:UnspecifiedMatching +OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:NIPSNAP2 semapv:UnspecifiedMatching +OMIM:603004 NIPSNAP2 skos:exactMatch ncbigene:2631 semapv:UnspecifiedMatching +OMIM:603005 PAPSS2 skos:exactMatch hgnc.symbol:8604 semapv:UnspecifiedMatching +OMIM:603005 PAPSS2 skos:exactMatch hgnc.symbol:PAPSS2 semapv:UnspecifiedMatching +OMIM:603005 PAPSS2 skos:exactMatch ncbigene:9060 semapv:UnspecifiedMatching +OMIM:603006 CDH4 skos:exactMatch hgnc.symbol:1763 semapv:UnspecifiedMatching +OMIM:603006 CDH4 skos:exactMatch hgnc.symbol:CDH4 semapv:UnspecifiedMatching +OMIM:603006 CDH4 skos:exactMatch ncbigene:1002 semapv:UnspecifiedMatching +OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:1765 semapv:UnspecifiedMatching +OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:CDH6 semapv:UnspecifiedMatching +OMIM:603007 CDH6 skos:exactMatch ncbigene:1004 semapv:UnspecifiedMatching +OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:1767 semapv:UnspecifiedMatching +OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:CDH8 semapv:UnspecifiedMatching +OMIM:603008 CDH8 skos:exactMatch ncbigene:1006 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C1414209 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch UMLS:C4551973 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch hgnc.symbol:3097 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch hgnc.symbol:DYSF semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch ncbigene:8291 semapv:UnspecifiedMatching +OMIM:603010 deafness, autosomal recessive 17 skos:exactMatch MONDO:0011279 semapv:UnspecifiedMatching +OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:10755 semapv:UnspecifiedMatching +OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:SERF1A semapv:UnspecifiedMatching +OMIM:603011 SERF1A skos:exactMatch ncbigene:8293 semapv:UnspecifiedMatching +OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:5233 semapv:UnspecifiedMatching +OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:HSPA1B semapv:UnspecifiedMatching +OMIM:603012 HSPA1B skos:exactMatch ncbigene:3304 semapv:UnspecifiedMatching +OMIM:603013 schizophrenia 6 skos:exactMatch MONDO:0011280 semapv:UnspecifiedMatching +OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:6847 semapv:UnspecifiedMatching +OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:MAP2K7 semapv:UnspecifiedMatching +OMIM:603014 MAP2K7 skos:exactMatch ncbigene:5609 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch UMLS:C1336677 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch UMLS:C5193193 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch UMLS:C5193194 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch UMLS:C5193229 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:12347 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:TRRAP semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch ncbigene:8295 semapv:UnspecifiedMatching +OMIM:603016 CDH19 skos:exactMatch hgnc.symbol:1758 semapv:UnspecifiedMatching +OMIM:603016 CDH19 skos:exactMatch hgnc.symbol:CDH19 semapv:UnspecifiedMatching +OMIM:603016 CDH19 skos:exactMatch ncbigene:28513 semapv:UnspecifiedMatching +OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:1756 semapv:UnspecifiedMatching +OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:CDH17 semapv:UnspecifiedMatching +OMIM:603017 CDH17 skos:exactMatch ncbigene:1015 semapv:UnspecifiedMatching +OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:917 semapv:UnspecifiedMatching +OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:B3GALT2 semapv:UnspecifiedMatching +OMIM:603018 B3GALT2 skos:exactMatch ncbigene:8707 semapv:UnspecifiedMatching +OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:1757 semapv:UnspecifiedMatching +OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:CDH18 semapv:UnspecifiedMatching +OMIM:603019 CDH18 skos:exactMatch ncbigene:1016 semapv:UnspecifiedMatching +OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:314 semapv:UnspecifiedMatching +OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:AFG3L1P semapv:UnspecifiedMatching +OMIM:603020 AFG3L1P skos:exactMatch ncbigene:172 semapv:UnspecifiedMatching +OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:10380 semapv:UnspecifiedMatching +OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:MRPS12 semapv:UnspecifiedMatching +OMIM:603021 MRPS12 skos:exactMatch ncbigene:6183 semapv:UnspecifiedMatching +OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:3121 semapv:UnspecifiedMatching +OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:E4F1 semapv:UnspecifiedMatching +OMIM:603022 E4F1 skos:exactMatch ncbigene:1877 semapv:UnspecifiedMatching +OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:13176 semapv:UnspecifiedMatching +OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:IKZF1 semapv:UnspecifiedMatching +OMIM:603023 IKZF1 skos:exactMatch ncbigene:10320 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch UMLS:C1420251 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch UMLS:C3553247 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch UMLS:C4310916 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:11110 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:ARID1A semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch ncbigene:8289 semapv:UnspecifiedMatching +OMIM:603025 PICALM skos:exactMatch hgnc.symbol:15514 semapv:UnspecifiedMatching +OMIM:603025 PICALM skos:exactMatch hgnc.symbol:PICALM semapv:UnspecifiedMatching +OMIM:603025 PICALM skos:exactMatch ncbigene:8301 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch UMLS:C1418629 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:9045 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:PLAG1 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch ncbigene:5324 semapv:UnspecifiedMatching +OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:3607 semapv:UnspecifiedMatching +OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:FBP2 semapv:UnspecifiedMatching +OMIM:603027 FBP2 skos:exactMatch ncbigene:8789 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch UMLS:C1336634 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch UMLS:C1858438 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch UMLS:C1968668 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:11848 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:TLR2 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch ncbigene:7097 semapv:UnspecifiedMatching +OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:11849 semapv:UnspecifiedMatching +OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:TLR3 semapv:UnspecifiedMatching +OMIM:603029 TLR3 skos:exactMatch ncbigene:7098 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch UMLS:C1336636 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch UMLS:C4310915 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:11850 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:TLR4 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch ncbigene:7099 semapv:UnspecifiedMatching +OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:11851 semapv:UnspecifiedMatching +OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:TLR5 semapv:UnspecifiedMatching +OMIM:603031 TLR5 skos:exactMatch ncbigene:7100 semapv:UnspecifiedMatching +OMIM:603032 SNN skos:exactMatch hgnc.symbol:11149 semapv:UnspecifiedMatching +OMIM:603032 SNN skos:exactMatch hgnc.symbol:SNN semapv:UnspecifiedMatching +OMIM:603032 SNN skos:exactMatch ncbigene:8303 semapv:UnspecifiedMatching +OMIM:603033 COLQ skos:exactMatch hgnc.symbol:2226 semapv:UnspecifiedMatching +OMIM:603033 COLQ skos:exactMatch hgnc.symbol:COLQ semapv:UnspecifiedMatching +OMIM:603033 COLQ skos:exactMatch ncbigene:8292 semapv:UnspecifiedMatching +OMIM:603034 myasthenic syndrome, congenital, 5 skos:exactMatch MONDO:0011281 semapv:UnspecifiedMatching +OMIM:603035 IL16 skos:exactMatch hgnc.symbol:5980 semapv:UnspecifiedMatching +OMIM:603035 IL16 skos:exactMatch hgnc.symbol:IL16 semapv:UnspecifiedMatching +OMIM:603035 IL16 skos:exactMatch ncbigene:3603 semapv:UnspecifiedMatching +OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:6552 semapv:UnspecifiedMatching +OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:LEFTY1 semapv:UnspecifiedMatching +OMIM:603037 LEFTY1 skos:exactMatch ncbigene:10637 semapv:UnspecifiedMatching +OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:11214 semapv:UnspecifiedMatching +OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:SPAG4 semapv:UnspecifiedMatching +OMIM:603038 SPAG4 skos:exactMatch ncbigene:6676 semapv:UnspecifiedMatching +OMIM:603039 MNT skos:exactMatch hgnc.symbol:7188 semapv:UnspecifiedMatching +OMIM:603039 MNT skos:exactMatch hgnc.symbol:MNT semapv:UnspecifiedMatching +OMIM:603039 MNT skos:exactMatch ncbigene:4335 semapv:UnspecifiedMatching +OMIM:603040 tumor suppressor gene on chromosome 11 skos:exactMatch MONDO:0011282 semapv:UnspecifiedMatching +OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch MONDO:0011283 semapv:UnspecifiedMatching +OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching +OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching +OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C4551995 semapv:UnspecifiedMatching +OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:11125 semapv:UnspecifiedMatching +OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:SUMO2 semapv:UnspecifiedMatching +OMIM:603042 SUMO2 skos:exactMatch ncbigene:6613 semapv:UnspecifiedMatching +OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:8017 semapv:UnspecifiedMatching +OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:NSMAF semapv:UnspecifiedMatching +OMIM:603043 NSMAF skos:exactMatch ncbigene:8439 semapv:UnspecifiedMatching +OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:9046 semapv:UnspecifiedMatching +OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:PLAGL1 semapv:UnspecifiedMatching +OMIM:603044 PLAGL1 skos:exactMatch ncbigene:5325 semapv:UnspecifiedMatching +OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:17023 semapv:UnspecifiedMatching +OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:RNF139 semapv:UnspecifiedMatching +OMIM:603046 RNF139 skos:exactMatch ncbigene:11236 semapv:UnspecifiedMatching +OMIM:603047 astigmatism skos:exactMatch MONDO:0011284 semapv:UnspecifiedMatching +OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:4446 semapv:UnspecifiedMatching +OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:GPAA1 semapv:UnspecifiedMatching +OMIM:603048 GPAA1 skos:exactMatch ncbigene:8733 semapv:UnspecifiedMatching +OMIM:603049 TXNL1 skos:exactMatch hgnc.symbol:12436 semapv:UnspecifiedMatching +OMIM:603049 TXNL1 skos:exactMatch hgnc.symbol:TXNL1 semapv:UnspecifiedMatching +OMIM:603049 TXNL1 skos:exactMatch ncbigene:9352 semapv:UnspecifiedMatching +OMIM:603050 ABI1 skos:exactMatch hgnc.symbol:11320 semapv:UnspecifiedMatching +OMIM:603050 ABI1 skos:exactMatch hgnc.symbol:ABI1 semapv:UnspecifiedMatching +OMIM:603050 ABI1 skos:exactMatch ncbigene:10006 semapv:UnspecifiedMatching +OMIM:603051 AGPS skos:exactMatch hgnc.symbol:327 semapv:UnspecifiedMatching +OMIM:603051 AGPS skos:exactMatch hgnc.symbol:AGPS semapv:UnspecifiedMatching +OMIM:603051 AGPS skos:exactMatch ncbigene:8540 semapv:UnspecifiedMatching +OMIM:603052 CPSF4 skos:exactMatch hgnc.symbol:2327 semapv:UnspecifiedMatching +OMIM:603052 CPSF4 skos:exactMatch hgnc.symbol:CPSF4 semapv:UnspecifiedMatching +OMIM:603052 CPSF4 skos:exactMatch ncbigene:10898 semapv:UnspecifiedMatching +OMIM:603053 HAT1 skos:exactMatch hgnc.symbol:4821 semapv:UnspecifiedMatching +OMIM:603053 HAT1 skos:exactMatch hgnc.symbol:HAT1 semapv:UnspecifiedMatching +OMIM:603053 HAT1 skos:exactMatch ncbigene:8520 semapv:UnspecifiedMatching +OMIM:603054 GREM1 skos:exactMatch hgnc.symbol:2001 semapv:UnspecifiedMatching +OMIM:603054 GREM1 skos:exactMatch hgnc.symbol:GREM1 semapv:UnspecifiedMatching +OMIM:603054 GREM1 skos:exactMatch ncbigene:26585 semapv:UnspecifiedMatching +OMIM:603055 SKIIP skos:exactMatch hgnc.symbol:16696 semapv:UnspecifiedMatching +OMIM:603055 SKIIP skos:exactMatch hgnc.symbol:SNW1 semapv:UnspecifiedMatching +OMIM:603055 SKIIP skos:exactMatch ncbigene:22938 semapv:UnspecifiedMatching +OMIM:603056 ORC4 skos:exactMatch hgnc.symbol:8490 semapv:UnspecifiedMatching +OMIM:603056 ORC4 skos:exactMatch hgnc.symbol:ORC4 semapv:UnspecifiedMatching +OMIM:603056 ORC4 skos:exactMatch ncbigene:5000 semapv:UnspecifiedMatching +OMIM:603057 DCHS1 skos:exactMatch hgnc.symbol:13681 semapv:UnspecifiedMatching +OMIM:603057 DCHS1 skos:exactMatch hgnc.symbol:DCHS1 semapv:UnspecifiedMatching +OMIM:603057 DCHS1 skos:exactMatch ncbigene:8642 semapv:UnspecifiedMatching +OMIM:603058 PCDHGB4 skos:exactMatch hgnc.symbol:8711 semapv:UnspecifiedMatching +OMIM:603058 PCDHGB4 skos:exactMatch hgnc.symbol:PCDHGB4 semapv:UnspecifiedMatching +OMIM:603058 PCDHGB4 skos:exactMatch ncbigene:8641 semapv:UnspecifiedMatching +OMIM:603059 PCDHGA12 skos:exactMatch hgnc.symbol:8699 semapv:UnspecifiedMatching +OMIM:603059 PCDHGA12 skos:exactMatch hgnc.symbol:PCDHGA12 semapv:UnspecifiedMatching +OMIM:603059 PCDHGA12 skos:exactMatch ncbigene:26025 semapv:UnspecifiedMatching +OMIM:603060 KIF1C skos:exactMatch hgnc.symbol:6317 semapv:UnspecifiedMatching +OMIM:603060 KIF1C skos:exactMatch hgnc.symbol:KIF1C semapv:UnspecifiedMatching +OMIM:603060 KIF1C skos:exactMatch ncbigene:10749 semapv:UnspecifiedMatching +OMIM:603061 ENSA skos:exactMatch hgnc.symbol:3360 semapv:UnspecifiedMatching +OMIM:603061 ENSA skos:exactMatch hgnc.symbol:ENSA semapv:UnspecifiedMatching +OMIM:603061 ENSA skos:exactMatch ncbigene:2029 semapv:UnspecifiedMatching +OMIM:603062 TGOLN2 skos:exactMatch hgnc.symbol:15450 semapv:UnspecifiedMatching +OMIM:603062 TGOLN2 skos:exactMatch hgnc.symbol:TGOLN2 semapv:UnspecifiedMatching +OMIM:603062 TGOLN2 skos:exactMatch ncbigene:10618 semapv:UnspecifiedMatching +OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:1027 semapv:UnspecifiedMatching +OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:BDH1 semapv:UnspecifiedMatching +OMIM:603063 BDH1 skos:exactMatch ncbigene:622 semapv:UnspecifiedMatching +OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:12545 semapv:UnspecifiedMatching +OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:UGT2B11 semapv:UnspecifiedMatching +OMIM:603064 UGT2B11 skos:exactMatch ncbigene:10720 semapv:UnspecifiedMatching +OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:7968 semapv:UnspecifiedMatching +OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:NR1I2 semapv:UnspecifiedMatching +OMIM:603065 NR1I2 skos:exactMatch ncbigene:8856 semapv:UnspecifiedMatching +OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:9083 semapv:UnspecifiedMatching +OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:PLOD3 semapv:UnspecifiedMatching +OMIM:603066 PLOD3 skos:exactMatch ncbigene:8985 semapv:UnspecifiedMatching +OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:3068 semapv:UnspecifiedMatching +OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:DUSP2 semapv:UnspecifiedMatching +OMIM:603068 DUSP2 skos:exactMatch ncbigene:1844 semapv:UnspecifiedMatching +OMIM:603069 DUSP5 skos:exactMatch hgnc.symbol:3071 semapv:UnspecifiedMatching +OMIM:603069 DUSP5 skos:exactMatch hgnc.symbol:DUSP5 semapv:UnspecifiedMatching +OMIM:603069 DUSP5 skos:exactMatch ncbigene:1847 semapv:UnspecifiedMatching +OMIM:603070 RAD51AP1 skos:exactMatch hgnc.symbol:16956 semapv:UnspecifiedMatching +OMIM:603070 RAD51AP1 skos:exactMatch hgnc.symbol:RAD51AP1 semapv:UnspecifiedMatching +OMIM:603070 RAD51AP1 skos:exactMatch ncbigene:10635 semapv:UnspecifiedMatching +OMIM:603071 GPR17 skos:exactMatch hgnc.symbol:4471 semapv:UnspecifiedMatching +OMIM:603071 GPR17 skos:exactMatch hgnc.symbol:GPR17 semapv:UnspecifiedMatching +OMIM:603071 GPR17 skos:exactMatch ncbigene:2840 semapv:UnspecifiedMatching +OMIM:603072 AURKA skos:exactMatch hgnc.symbol:11393 semapv:UnspecifiedMatching +OMIM:603072 AURKA skos:exactMatch hgnc.symbol:AURKA semapv:UnspecifiedMatching +OMIM:603072 AURKA skos:exactMatch ncbigene:6790 semapv:UnspecifiedMatching +OMIM:603073 ZIC2 skos:exactMatch hgnc.symbol:12873 semapv:UnspecifiedMatching +OMIM:603073 ZIC2 skos:exactMatch hgnc.symbol:ZIC2 semapv:UnspecifiedMatching +OMIM:603073 ZIC2 skos:exactMatch ncbigene:7546 semapv:UnspecifiedMatching +OMIM:603074 PAFAH1B3 skos:exactMatch hgnc.symbol:8576 semapv:UnspecifiedMatching +OMIM:603074 PAFAH1B3 skos:exactMatch hgnc.symbol:PAFAH1B3 semapv:UnspecifiedMatching +OMIM:603074 PAFAH1B3 skos:exactMatch ncbigene:5050 semapv:UnspecifiedMatching +OMIM:603075 macular degeneration, age-related, 1 skos:exactMatch MONDO:0011285 semapv:UnspecifiedMatching +OMIM:603076 ABCG1 skos:exactMatch hgnc.symbol:73 semapv:UnspecifiedMatching +OMIM:603076 ABCG1 skos:exactMatch hgnc.symbol:ABCG1 semapv:UnspecifiedMatching +OMIM:603076 ABCG1 skos:exactMatch ncbigene:9619 semapv:UnspecifiedMatching +OMIM:603078 CHEK1 skos:exactMatch hgnc.symbol:1925 semapv:UnspecifiedMatching +OMIM:603078 CHEK1 skos:exactMatch hgnc.symbol:CHEK1 semapv:UnspecifiedMatching +OMIM:603078 CHEK1 skos:exactMatch ncbigene:1111 semapv:UnspecifiedMatching +OMIM:603079 CBX4 skos:exactMatch hgnc.symbol:1554 semapv:UnspecifiedMatching +OMIM:603079 CBX4 skos:exactMatch hgnc.symbol:CBX4 semapv:UnspecifiedMatching +OMIM:603079 CBX4 skos:exactMatch ncbigene:8535 semapv:UnspecifiedMatching +OMIM:603080 SLC6A12 skos:exactMatch hgnc.symbol:11045 semapv:UnspecifiedMatching +OMIM:603080 SLC6A12 skos:exactMatch hgnc.symbol:SLC6A12 semapv:UnspecifiedMatching +OMIM:603080 SLC6A12 skos:exactMatch ncbigene:6539 semapv:UnspecifiedMatching +OMIM:603081 ADPRH skos:exactMatch hgnc.symbol:269 semapv:UnspecifiedMatching +OMIM:603081 ADPRH skos:exactMatch hgnc.symbol:ADPRH semapv:UnspecifiedMatching +OMIM:603081 ADPRH skos:exactMatch ncbigene:141 semapv:UnspecifiedMatching +OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:5045 semapv:UnspecifiedMatching +OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:HNRNPL semapv:UnspecifiedMatching +OMIM:603083 HNRNPL skos:exactMatch ncbigene:3191 semapv:UnspecifiedMatching +OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:2678 semapv:UnspecifiedMatching +OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:DARS1 semapv:UnspecifiedMatching +OMIM:603084 DARS1 skos:exactMatch ncbigene:1615 semapv:UnspecifiedMatching +OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:11016 semapv:UnspecifiedMatching +OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:SLC31A1 semapv:UnspecifiedMatching +OMIM:603085 SLC31A1 skos:exactMatch ncbigene:1317 semapv:UnspecifiedMatching +OMIM:603086 ART3 skos:exactMatch hgnc.symbol:725 semapv:UnspecifiedMatching +OMIM:603086 ART3 skos:exactMatch hgnc.symbol:ART3 semapv:UnspecifiedMatching +OMIM:603086 ART3 skos:exactMatch ncbigene:419 semapv:UnspecifiedMatching +OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:11017 semapv:UnspecifiedMatching +OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:SLC31A2 semapv:UnspecifiedMatching +OMIM:603088 SLC31A2 skos:exactMatch ncbigene:1318 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch UMLS:C1332380 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch UMLS:C3280492 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:950 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:BAP1 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch ncbigene:8314 semapv:UnspecifiedMatching +OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:12515 semapv:UnspecifiedMatching +OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:UCHL3 semapv:UnspecifiedMatching +OMIM:603090 UCHL3 skos:exactMatch ncbigene:7347 semapv:UnspecifiedMatching +OMIM:603091 USP12 skos:exactMatch hgnc.symbol:20485 semapv:UnspecifiedMatching +OMIM:603091 USP12 skos:exactMatch hgnc.symbol:USP12 semapv:UnspecifiedMatching +OMIM:603091 USP12 skos:exactMatch ncbigene:219333 semapv:UnspecifiedMatching +OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:3066 semapv:UnspecifiedMatching +OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:DUSP11 semapv:UnspecifiedMatching +OMIM:603092 DUSP11 skos:exactMatch ncbigene:8446 semapv:UnspecifiedMatching +OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:916 semapv:UnspecifiedMatching +OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:B3GALT1 semapv:UnspecifiedMatching +OMIM:603093 B3GALT1 skos:exactMatch ncbigene:8708 semapv:UnspecifiedMatching +OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:918 semapv:UnspecifiedMatching +OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:B3GALNT1 semapv:UnspecifiedMatching +OMIM:603094 B3GALNT1 skos:exactMatch ncbigene:8706 semapv:UnspecifiedMatching +OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:919 semapv:UnspecifiedMatching +OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:B3GALT4 semapv:UnspecifiedMatching +OMIM:603095 B3GALT4 skos:exactMatch ncbigene:8705 semapv:UnspecifiedMatching +OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:856 semapv:UnspecifiedMatching +OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:ATP6V1C1 semapv:UnspecifiedMatching +OMIM:603097 ATP6V1C1 skos:exactMatch ncbigene:528 semapv:UnspecifiedMatching +OMIM:603098 deafness, autosomal recessive 13 skos:exactMatch MONDO:0011286 semapv:UnspecifiedMatching +OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:324 semapv:UnspecifiedMatching +OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:AGPAT1 semapv:UnspecifiedMatching +OMIM:603099 AGPAT1 skos:exactMatch ncbigene:10554 semapv:UnspecifiedMatching +OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:325 semapv:UnspecifiedMatching +OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:AGPAT2 semapv:UnspecifiedMatching +OMIM:603100 AGPAT2 skos:exactMatch ncbigene:10555 semapv:UnspecifiedMatching +OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:2300 semapv:UnspecifiedMatching +OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:CPB2 semapv:UnspecifiedMatching +OMIM:603101 CPB2 skos:exactMatch ncbigene:1361 semapv:UnspecifiedMatching +OMIM:603102 CPD skos:exactMatch hgnc.symbol:2301 semapv:UnspecifiedMatching +OMIM:603102 CPD skos:exactMatch hgnc.symbol:CPD semapv:UnspecifiedMatching +OMIM:603102 CPD skos:exactMatch ncbigene:1362 semapv:UnspecifiedMatching +OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:2312 semapv:UnspecifiedMatching +OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:CPN1 semapv:UnspecifiedMatching +OMIM:603103 CPN1 skos:exactMatch ncbigene:1369 semapv:UnspecifiedMatching +OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:2313 semapv:UnspecifiedMatching +OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:CPN2 semapv:UnspecifiedMatching +OMIM:603104 CPN2 skos:exactMatch ncbigene:1370 semapv:UnspecifiedMatching +OMIM:603105 CPZ skos:exactMatch hgnc.symbol:2333 semapv:UnspecifiedMatching +OMIM:603105 CPZ skos:exactMatch hgnc.symbol:CPZ semapv:UnspecifiedMatching +OMIM:603105 CPZ skos:exactMatch ncbigene:8532 semapv:UnspecifiedMatching +OMIM:603106 NNAT skos:exactMatch hgnc.symbol:7860 semapv:UnspecifiedMatching +OMIM:603106 NNAT skos:exactMatch hgnc.symbol:NNAT semapv:UnspecifiedMatching +OMIM:603106 NNAT skos:exactMatch ncbigene:4826 semapv:UnspecifiedMatching +OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:11631 semapv:UnspecifiedMatching +OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:TCF20 semapv:UnspecifiedMatching +OMIM:603107 TCF20 skos:exactMatch ncbigene:6942 semapv:UnspecifiedMatching +OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:6890 semapv:UnspecifiedMatching +OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:MAPRE1 semapv:UnspecifiedMatching +OMIM:603108 MAPRE1 skos:exactMatch ncbigene:22919 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch UMLS:C0919432 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch UMLS:C3151087 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:6769 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:SMAD3 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch ncbigene:4088 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch UMLS:C1416963 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:6771 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:SMAD5 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch ncbigene:4090 semapv:UnspecifiedMatching +OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:11109 semapv:UnspecifiedMatching +OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:SMARCE1 semapv:UnspecifiedMatching +OMIM:603111 SMARCE1 skos:exactMatch ncbigene:6605 semapv:UnspecifiedMatching +OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:10489 semapv:UnspecifiedMatching +OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:S100A12 semapv:UnspecifiedMatching +OMIM:603112 S100A12 skos:exactMatch ncbigene:6283 semapv:UnspecifiedMatching +OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:9303 semapv:UnspecifiedMatching +OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:PPP2R1B semapv:UnspecifiedMatching +OMIM:603113 PPP2R1B skos:exactMatch ncbigene:5519 semapv:UnspecifiedMatching +OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:10488 semapv:UnspecifiedMatching +OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:S100A11 semapv:UnspecifiedMatching +OMIM:603114 S100A11 skos:exactMatch ncbigene:6282 semapv:UnspecifiedMatching +OMIM:603115 DHX9 skos:exactMatch UMLS:C1413966 semapv:UnspecifiedMatching +OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:2750 semapv:UnspecifiedMatching +OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:DHX9 semapv:UnspecifiedMatching +OMIM:603115 DHX9 skos:exactMatch ncbigene:1660 semapv:UnspecifiedMatching +OMIM:603116 cdags syndrome skos:exactMatch MONDO:0011287 semapv:UnspecifiedMatching +OMIM:603117 spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal skos:exactMatch MONDO:0011288 semapv:UnspecifiedMatching +OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:1755 semapv:UnspecifiedMatching +OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:CDH16 semapv:UnspecifiedMatching +OMIM:603118 CDH16 skos:exactMatch ncbigene:1014 semapv:UnspecifiedMatching +OMIM:603119 apraxia of eyelid opening skos:exactMatch MONDO:0011289 semapv:UnspecifiedMatching +OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:9756 semapv:UnspecifiedMatching +OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:QSOX1 semapv:UnspecifiedMatching +OMIM:603120 QSOX1 skos:exactMatch ncbigene:5768 semapv:UnspecifiedMatching +OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:2988 semapv:UnspecifiedMatching +OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:DOCK2 semapv:UnspecifiedMatching +OMIM:603122 DOCK2 skos:exactMatch ncbigene:1794 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch UMLS:C1414129 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:2989 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:DOCK3 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch ncbigene:1795 semapv:UnspecifiedMatching +OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:12483 semapv:UnspecifiedMatching +OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:UBE2G2 semapv:UnspecifiedMatching +OMIM:603124 UBE2G2 skos:exactMatch ncbigene:7327 semapv:UnspecifiedMatching +OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:12020 semapv:UnspecifiedMatching +OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:TPST1 semapv:UnspecifiedMatching +OMIM:603125 TPST1 skos:exactMatch ncbigene:8460 semapv:UnspecifiedMatching +OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:12021 semapv:UnspecifiedMatching +OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:TPST2 semapv:UnspecifiedMatching +OMIM:603126 TPST2 skos:exactMatch ncbigene:8459 semapv:UnspecifiedMatching +OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:4169 semapv:UnspecifiedMatching +OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:GAS7 semapv:UnspecifiedMatching +OMIM:603127 GAS7 skos:exactMatch ncbigene:8522 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch UMLS:C1420067 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:10882 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:SIM1 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch ncbigene:6492 semapv:UnspecifiedMatching +OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:6644 semapv:UnspecifiedMatching +OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:LMO4 semapv:UnspecifiedMatching +OMIM:603129 LMO4 skos:exactMatch ncbigene:8543 semapv:UnspecifiedMatching +OMIM:603130 ATRN skos:exactMatch hgnc.symbol:885 semapv:UnspecifiedMatching +OMIM:603130 ATRN skos:exactMatch hgnc.symbol:ATRN semapv:UnspecifiedMatching +OMIM:603130 ATRN skos:exactMatch ncbigene:8455 semapv:UnspecifiedMatching +OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:9119 semapv:UnspecifiedMatching +OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:PMPCB semapv:UnspecifiedMatching +OMIM:603131 PMPCB skos:exactMatch ncbigene:9512 semapv:UnspecifiedMatching +OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:12980 semapv:UnspecifiedMatching +OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:ZNF189 semapv:UnspecifiedMatching +OMIM:603132 ZNF189 skos:exactMatch ncbigene:7743 semapv:UnspecifiedMatching +OMIM:603133 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation skos:exactMatch MONDO:0011290 semapv:UnspecifiedMatching +OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:2551 semapv:UnspecifiedMatching +OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:CUL1 semapv:UnspecifiedMatching +OMIM:603134 CUL1 skos:exactMatch ncbigene:8454 semapv:UnspecifiedMatching +OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:2552 semapv:UnspecifiedMatching +OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:CUL2 semapv:UnspecifiedMatching +OMIM:603135 CUL2 skos:exactMatch ncbigene:8453 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch UMLS:C1332811 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch UMLS:C3469606 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:2553 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:CUL3 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch ncbigene:8452 semapv:UnspecifiedMatching +OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:2554 semapv:UnspecifiedMatching +OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:CUL4A semapv:UnspecifiedMatching +OMIM:603137 CUL4A skos:exactMatch ncbigene:8451 semapv:UnspecifiedMatching +OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:9807 semapv:UnspecifiedMatching +OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:RAD17 semapv:UnspecifiedMatching +OMIM:603139 RAD17 skos:exactMatch ncbigene:5884 semapv:UnspecifiedMatching +OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:8997 semapv:UnspecifiedMatching +OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:PIP4K2A semapv:UnspecifiedMatching +OMIM:603140 PIP4K2A skos:exactMatch ncbigene:5305 semapv:UnspecifiedMatching +OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:9249 semapv:UnspecifiedMatching +OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:PPFIBP1 semapv:UnspecifiedMatching +OMIM:603141 PPFIBP1 skos:exactMatch ncbigene:8496 semapv:UnspecifiedMatching +OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:9250 semapv:UnspecifiedMatching +OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:PPFIBP2 semapv:UnspecifiedMatching +OMIM:603142 PPFIBP2 skos:exactMatch ncbigene:8495 semapv:UnspecifiedMatching +OMIM:603143 PPFIA2 skos:exactMatch UMLS:C1418786 semapv:UnspecifiedMatching +OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:9246 semapv:UnspecifiedMatching +OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:PPFIA2 semapv:UnspecifiedMatching +OMIM:603143 PPFIA2 skos:exactMatch ncbigene:8499 semapv:UnspecifiedMatching +OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:9247 semapv:UnspecifiedMatching +OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:PPFIA3 semapv:UnspecifiedMatching +OMIM:603144 PPFIA3 skos:exactMatch ncbigene:8541 semapv:UnspecifiedMatching +OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:9248 semapv:UnspecifiedMatching +OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:PPFIA4 semapv:UnspecifiedMatching +OMIM:603145 PPFIA4 skos:exactMatch ncbigene:8497 semapv:UnspecifiedMatching +OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:9567 semapv:UnspecifiedMatching +OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:PSMD9 semapv:UnspecifiedMatching +OMIM:603146 PSMD9 skos:exactMatch ncbigene:5715 semapv:UnspecifiedMatching +OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch MONDO:0011291 semapv:UnspecifiedMatching +OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch Orphanet:79320 semapv:UnspecifiedMatching +OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching +OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:785 semapv:UnspecifiedMatching +OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:ATF3 semapv:UnspecifiedMatching +OMIM:603148 ATF3 skos:exactMatch ncbigene:467 semapv:UnspecifiedMatching +OMIM:603149 IL17A skos:exactMatch UMLS:C1825592 semapv:UnspecifiedMatching +OMIM:603149 IL17A skos:exactMatch hgnc.symbol:5981 semapv:UnspecifiedMatching +OMIM:603149 IL17A skos:exactMatch hgnc.symbol:IL17A semapv:UnspecifiedMatching +OMIM:603149 IL17A skos:exactMatch ncbigene:3605 semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch UMLS:C1412658 semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch UMLS:C4748269 semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:837 semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:ATP5F1D semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch ncbigene:513 semapv:UnspecifiedMatching +OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:1717 semapv:UnspecifiedMatching +OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:SEPTIN7 semapv:UnspecifiedMatching +OMIM:603151 SEPT7 skos:exactMatch ncbigene:989 semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch UMLS:C1412668 semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:847 semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:ATP5PF semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch ncbigene:522 semapv:UnspecifiedMatching +OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:9806 semapv:UnspecifiedMatching +OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:RAD1 semapv:UnspecifiedMatching +OMIM:603153 RAD1 skos:exactMatch ncbigene:5810 semapv:UnspecifiedMatching +OMIM:603154 PNN skos:exactMatch hgnc.symbol:9162 semapv:UnspecifiedMatching +OMIM:603154 PNN skos:exactMatch hgnc.symbol:PNN semapv:UnspecifiedMatching +OMIM:603154 PNN skos:exactMatch ncbigene:5411 semapv:UnspecifiedMatching +OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:9647 semapv:UnspecifiedMatching +OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:PTPN14 semapv:UnspecifiedMatching +OMIM:603155 PTPN14 skos:exactMatch ncbigene:5784 semapv:UnspecifiedMatching +OMIM:603156 BPHL skos:exactMatch hgnc.symbol:1094 semapv:UnspecifiedMatching +OMIM:603156 BPHL skos:exactMatch hgnc.symbol:BPHL semapv:UnspecifiedMatching +OMIM:603156 BPHL skos:exactMatch ncbigene:670 semapv:UnspecifiedMatching +OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:8980 semapv:UnspecifiedMatching +OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:PIK3R2 semapv:UnspecifiedMatching +OMIM:603157 PIK3R2 skos:exactMatch ncbigene:5296 semapv:UnspecifiedMatching +OMIM:603158 USP8 skos:exactMatch hgnc.symbol:12631 semapv:UnspecifiedMatching +OMIM:603158 USP8 skos:exactMatch hgnc.symbol:USP8 semapv:UnspecifiedMatching +OMIM:603158 USP8 skos:exactMatch ncbigene:9101 semapv:UnspecifiedMatching +OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:6695 semapv:UnspecifiedMatching +OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:LRP3 semapv:UnspecifiedMatching +OMIM:603159 LRP3 skos:exactMatch ncbigene:4037 semapv:UnspecifiedMatching +OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:3368 semapv:UnspecifiedMatching +OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:ENTPD6 semapv:UnspecifiedMatching +OMIM:603160 ENTPD6 skos:exactMatch ncbigene:955 semapv:UnspecifiedMatching +OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:3365 semapv:UnspecifiedMatching +OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:ENTPD3 semapv:UnspecifiedMatching +OMIM:603161 ENTPD3 skos:exactMatch ncbigene:956 semapv:UnspecifiedMatching +OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:3367 semapv:UnspecifiedMatching +OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:ENTPD5 semapv:UnspecifiedMatching +OMIM:603162 ENTPD5 skos:exactMatch ncbigene:957 semapv:UnspecifiedMatching +OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:17036 semapv:UnspecifiedMatching +OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:SCRG1 semapv:UnspecifiedMatching +OMIM:603163 SCRG1 skos:exactMatch ncbigene:11341 semapv:UnspecifiedMatching +OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:8858 semapv:UnspecifiedMatching +OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:PEX3 semapv:UnspecifiedMatching +OMIM:603164 PEX3 skos:exactMatch ncbigene:8504 semapv:UnspecifiedMatching +OMIM:603165 dermatitis, atopic skos:exactMatch MONDO:0011292 semapv:UnspecifiedMatching +OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:6864 semapv:UnspecifiedMatching +OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:MAP4K2 semapv:UnspecifiedMatching +OMIM:603166 MAP4K2 skos:exactMatch ncbigene:5871 semapv:UnspecifiedMatching +OMIM:603167 BAD skos:exactMatch hgnc.symbol:936 semapv:UnspecifiedMatching +OMIM:603167 BAD skos:exactMatch hgnc.symbol:BAD semapv:UnspecifiedMatching +OMIM:603167 BAD skos:exactMatch ncbigene:572 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch UMLS:C1421350 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:12558 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:ULK1 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch ncbigene:8408 semapv:UnspecifiedMatching +OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:2547 semapv:UnspecifiedMatching +OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:CTSZ semapv:UnspecifiedMatching +OMIM:603169 CTSZ skos:exactMatch ncbigene:1522 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch UMLS:C1420681 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:11716 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:TEAD3 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch ncbigene:7005 semapv:UnspecifiedMatching +OMIM:603171 NEDD8 skos:exactMatch UMLS:C1417663 semapv:UnspecifiedMatching +OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:7732 semapv:UnspecifiedMatching +OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:NEDD8 semapv:UnspecifiedMatching +OMIM:603171 NEDD8 skos:exactMatch ncbigene:4738 semapv:UnspecifiedMatching +OMIM:603172 UBA3 skos:exactMatch hgnc.symbol:12470 semapv:UnspecifiedMatching +OMIM:603172 UBA3 skos:exactMatch hgnc.symbol:UBA3 semapv:UnspecifiedMatching +OMIM:603172 UBA3 skos:exactMatch ncbigene:9039 semapv:UnspecifiedMatching +OMIM:603173 UBE2M skos:exactMatch hgnc.symbol:12491 semapv:UnspecifiedMatching +OMIM:603173 UBE2M skos:exactMatch hgnc.symbol:UBE2M semapv:UnspecifiedMatching +OMIM:603173 UBE2M skos:exactMatch ncbigene:9040 semapv:UnspecifiedMatching +OMIM:603174 hyperhomocysteinemia skos:exactMatch MONDO:0004743 semapv:UnspecifiedMatching +OMIM:603175 schizophrenia 5 skos:exactMatch MONDO:0011294 semapv:UnspecifiedMatching +OMIM:603176 schizophrenia 7 skos:exactMatch MONDO:0011295 semapv:UnspecifiedMatching +OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:12647 semapv:UnspecifiedMatching +OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:VAMP8 semapv:UnspecifiedMatching +OMIM:603177 VAMP8 skos:exactMatch ncbigene:8673 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch UMLS:C1417216 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch hgnc.symbol:7179 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch hgnc.symbol:ALDH6A1 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch ncbigene:4329 semapv:UnspecifiedMatching +OMIM:603179 CA9 skos:exactMatch hgnc.symbol:1383 semapv:UnspecifiedMatching +OMIM:603179 CA9 skos:exactMatch hgnc.symbol:CA9 semapv:UnspecifiedMatching +OMIM:603179 CA9 skos:exactMatch ncbigene:768 semapv:UnspecifiedMatching +OMIM:603180 XPOT skos:exactMatch hgnc.symbol:12826 semapv:UnspecifiedMatching +OMIM:603180 XPOT skos:exactMatch hgnc.symbol:XPOT semapv:UnspecifiedMatching +OMIM:603180 XPOT skos:exactMatch ncbigene:11260 semapv:UnspecifiedMatching +OMIM:603181 ILF2 skos:exactMatch hgnc.symbol:6037 semapv:UnspecifiedMatching +OMIM:603181 ILF2 skos:exactMatch hgnc.symbol:ILF2 semapv:UnspecifiedMatching +OMIM:603181 ILF2 skos:exactMatch ncbigene:3608 semapv:UnspecifiedMatching +OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:6038 semapv:UnspecifiedMatching +OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:ILF3 semapv:UnspecifiedMatching +OMIM:603182 ILF3 skos:exactMatch ncbigene:3609 semapv:UnspecifiedMatching +OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:10468 semapv:UnspecifiedMatching +OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:RTN2 semapv:UnspecifiedMatching +OMIM:603183 RTN2 skos:exactMatch ncbigene:6253 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch UMLS:C1413289 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:1779 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:CDK8 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch ncbigene:1024 semapv:UnspecifiedMatching +OMIM:603185 NASP skos:exactMatch hgnc.symbol:7644 semapv:UnspecifiedMatching +OMIM:603185 NASP skos:exactMatch hgnc.symbol:NASP semapv:UnspecifiedMatching +OMIM:603185 NASP skos:exactMatch ncbigene:4678 semapv:UnspecifiedMatching +OMIM:603186 DAXX skos:exactMatch hgnc.symbol:2681 semapv:UnspecifiedMatching +OMIM:603186 DAXX skos:exactMatch hgnc.symbol:DAXX semapv:UnspecifiedMatching +OMIM:603186 DAXX skos:exactMatch ncbigene:1616 semapv:UnspecifiedMatching +OMIM:603187 CETN1 skos:exactMatch UMLS:C1413350 semapv:UnspecifiedMatching +OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:1866 semapv:UnspecifiedMatching +OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:CETN1 semapv:UnspecifiedMatching +OMIM:603187 CETN1 skos:exactMatch ncbigene:1068 semapv:UnspecifiedMatching +OMIM:603189 STX5 skos:exactMatch hgnc.symbol:11440 semapv:UnspecifiedMatching +OMIM:603189 STX5 skos:exactMatch hgnc.symbol:STX5 semapv:UnspecifiedMatching +OMIM:603189 STX5 skos:exactMatch ncbigene:6811 semapv:UnspecifiedMatching +OMIM:603190 PRMT3 skos:exactMatch hgnc.symbol:30163 semapv:UnspecifiedMatching +OMIM:603190 PRMT3 skos:exactMatch hgnc.symbol:PRMT3 semapv:UnspecifiedMatching +OMIM:603190 PRMT3 skos:exactMatch ncbigene:10196 semapv:UnspecifiedMatching +OMIM:603191 CFAP410 skos:exactMatch hgnc.symbol:1260 semapv:UnspecifiedMatching +OMIM:603191 CFAP410 skos:exactMatch hgnc.symbol:CFAP410 semapv:UnspecifiedMatching +OMIM:603191 CFAP410 skos:exactMatch ncbigene:755 semapv:UnspecifiedMatching +OMIM:603192 ATP5G1 skos:exactMatch hgnc.symbol:841 semapv:UnspecifiedMatching +OMIM:603192 ATP5G1 skos:exactMatch hgnc.symbol:ATP5MC1 semapv:UnspecifiedMatching +OMIM:603192 ATP5G1 skos:exactMatch ncbigene:516 semapv:UnspecifiedMatching +OMIM:603193 ATP5G2 skos:exactMatch hgnc.symbol:842 semapv:UnspecifiedMatching +OMIM:603193 ATP5G2 skos:exactMatch hgnc.symbol:ATP5MC2 semapv:UnspecifiedMatching +OMIM:603193 ATP5G2 skos:exactMatch ncbigene:517 semapv:UnspecifiedMatching +OMIM:603194 meckel syndrome, iia 2 skos:exactMatch MONDO:0011296 semapv:UnspecifiedMatching +OMIM:603195 GPR32 skos:exactMatch hgnc.symbol:4487 semapv:UnspecifiedMatching +OMIM:603195 GPR32 skos:exactMatch hgnc.symbol:GPR32 semapv:UnspecifiedMatching +OMIM:603195 GPR32 skos:exactMatch ncbigene:2854 semapv:UnspecifiedMatching +OMIM:603196 COCH skos:exactMatch hgnc.symbol:2180 semapv:UnspecifiedMatching +OMIM:603196 COCH skos:exactMatch hgnc.symbol:COCH semapv:UnspecifiedMatching +OMIM:603196 COCH skos:exactMatch ncbigene:1690 semapv:UnspecifiedMatching +OMIM:603197 PNPLA6 skos:exactMatch hgnc.symbol:16268 semapv:UnspecifiedMatching +OMIM:603197 PNPLA6 skos:exactMatch hgnc.symbol:PNPLA6 semapv:UnspecifiedMatching +OMIM:603197 PNPLA6 skos:exactMatch ncbigene:10908 semapv:UnspecifiedMatching +OMIM:603198 CAVIN1 skos:exactMatch hgnc.symbol:9688 semapv:UnspecifiedMatching +OMIM:603198 CAVIN1 skos:exactMatch hgnc.symbol:CAVIN1 semapv:UnspecifiedMatching +OMIM:603198 CAVIN1 skos:exactMatch ncbigene:284119 semapv:UnspecifiedMatching +OMIM:603199 PATJ skos:exactMatch hgnc.symbol:28881 semapv:UnspecifiedMatching +OMIM:603199 PATJ skos:exactMatch hgnc.symbol:PATJ semapv:UnspecifiedMatching +OMIM:603199 PATJ skos:exactMatch ncbigene:10207 semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch UMLS:C1419364 semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch UMLS:C1859535 semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch hgnc.symbol:9987 semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch hgnc.symbol:RFXANK semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch ncbigene:8625 semapv:UnspecifiedMatching +OMIM:603201 ABCB11 skos:exactMatch hgnc.symbol:42 semapv:UnspecifiedMatching +OMIM:603201 ABCB11 skos:exactMatch hgnc.symbol:ABCB11 semapv:UnspecifiedMatching +OMIM:603201 ABCB11 skos:exactMatch ncbigene:8647 semapv:UnspecifiedMatching +OMIM:603202 LCT skos:exactMatch hgnc.symbol:6530 semapv:UnspecifiedMatching +OMIM:603202 LCT skos:exactMatch hgnc.symbol:LCT semapv:UnspecifiedMatching +OMIM:603202 LCT skos:exactMatch ncbigene:3938 semapv:UnspecifiedMatching +OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:1593 semapv:UnspecifiedMatching +OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:CCNG2 semapv:UnspecifiedMatching +OMIM:603203 CCNG2 skos:exactMatch ncbigene:901 semapv:UnspecifiedMatching +OMIM:603204 epilepsy, nocturnal frontal lobe, 2 skos:exactMatch MONDO:0011297 semapv:UnspecifiedMatching +OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:7198 semapv:UnspecifiedMatching +OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:MORC1 semapv:UnspecifiedMatching +OMIM:603205 MORC1 skos:exactMatch ncbigene:27136 semapv:UnspecifiedMatching +OMIM:603206 schizophrenia 8 skos:exactMatch MONDO:0011298 semapv:UnspecifiedMatching +OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:17793 semapv:UnspecifiedMatching +OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:VTI1B semapv:UnspecifiedMatching +OMIM:603207 VTI1B skos:exactMatch ncbigene:10490 semapv:UnspecifiedMatching +OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:6259 semapv:UnspecifiedMatching +OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:KCNJ13 semapv:UnspecifiedMatching +OMIM:603208 KCNJ13 skos:exactMatch ncbigene:3769 semapv:UnspecifiedMatching +OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:2098 semapv:UnspecifiedMatching +OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:CMAHP semapv:UnspecifiedMatching +OMIM:603210 JRK skos:exactMatch UMLS:C1416531 semapv:UnspecifiedMatching +OMIM:603210 JRK skos:exactMatch hgnc.symbol:6199 semapv:UnspecifiedMatching +OMIM:603210 JRK skos:exactMatch hgnc.symbol:JRK semapv:UnspecifiedMatching +OMIM:603210 JRK skos:exactMatch ncbigene:8629 semapv:UnspecifiedMatching +OMIM:603211 JRKL skos:exactMatch hgnc.symbol:6200 semapv:UnspecifiedMatching +OMIM:603211 JRKL skos:exactMatch hgnc.symbol:JRKL semapv:UnspecifiedMatching +OMIM:603211 JRKL skos:exactMatch ncbigene:8690 semapv:UnspecifiedMatching +OMIM:603212 BFSP2 skos:exactMatch hgnc.symbol:1041 semapv:UnspecifiedMatching +OMIM:603212 BFSP2 skos:exactMatch hgnc.symbol:BFSP2 semapv:UnspecifiedMatching +OMIM:603212 BFSP2 skos:exactMatch ncbigene:8419 semapv:UnspecifiedMatching +OMIM:603213 KIF22 skos:exactMatch hgnc.symbol:6391 semapv:UnspecifiedMatching +OMIM:603213 KIF22 skos:exactMatch hgnc.symbol:KIF22 semapv:UnspecifiedMatching +OMIM:603213 KIF22 skos:exactMatch ncbigene:3835 semapv:UnspecifiedMatching +OMIM:603214 ABCD4 skos:exactMatch hgnc.symbol:68 semapv:UnspecifiedMatching +OMIM:603214 ABCD4 skos:exactMatch hgnc.symbol:ABCD4 semapv:UnspecifiedMatching +OMIM:603214 ABCD4 skos:exactMatch ncbigene:5826 semapv:UnspecifiedMatching +OMIM:603215 NAPA skos:exactMatch hgnc.symbol:7641 semapv:UnspecifiedMatching +OMIM:603215 NAPA skos:exactMatch hgnc.symbol:NAPA semapv:UnspecifiedMatching +OMIM:603215 NAPA skos:exactMatch ncbigene:8775 semapv:UnspecifiedMatching +OMIM:603216 NAPG skos:exactMatch hgnc.symbol:7642 semapv:UnspecifiedMatching +OMIM:603216 NAPG skos:exactMatch hgnc.symbol:NAPG semapv:UnspecifiedMatching +OMIM:603216 NAPG skos:exactMatch ncbigene:8774 semapv:UnspecifiedMatching +OMIM:603217 STX7 skos:exactMatch hgnc.symbol:11442 semapv:UnspecifiedMatching +OMIM:603217 STX7 skos:exactMatch hgnc.symbol:STX7 semapv:UnspecifiedMatching +OMIM:603217 STX7 skos:exactMatch ncbigene:8417 semapv:UnspecifiedMatching +OMIM:603218 huntington disease-like 1 skos:exactMatch MONDO:0011299 semapv:UnspecifiedMatching +OMIM:603219 KCNK2 skos:exactMatch hgnc.symbol:6277 semapv:UnspecifiedMatching +OMIM:603219 KCNK2 skos:exactMatch hgnc.symbol:KCNK2 semapv:UnspecifiedMatching +OMIM:603219 KCNK2 skos:exactMatch ncbigene:3776 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch UMLS:C1416596 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch UMLS:C3809198 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:6278 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:KCNK3 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch ncbigene:3777 semapv:UnspecifiedMatching +OMIM:603221 myopia 3, autosomal dominant skos:exactMatch MONDO:0011300 semapv:UnspecifiedMatching +OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:32688 semapv:UnspecifiedMatching +OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:SNHG1 semapv:UnspecifiedMatching +OMIM:603222 u22 host gene skos:exactMatch ncbigene:23642 semapv:UnspecifiedMatching +OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:10145 semapv:UnspecifiedMatching +OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:SNORD22 semapv:UnspecifiedMatching +OMIM:603223 RNU22 skos:exactMatch ncbigene:9304 semapv:UnspecifiedMatching +OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:10147 semapv:UnspecifiedMatching +OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:SNORD25 semapv:UnspecifiedMatching +OMIM:603224 RNU25 skos:exactMatch ncbigene:9303 semapv:UnspecifiedMatching +OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:10148 semapv:UnspecifiedMatching +OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:SNORD26 semapv:UnspecifiedMatching +OMIM:603225 RNU26 skos:exactMatch ncbigene:9302 semapv:UnspecifiedMatching +OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:10149 semapv:UnspecifiedMatching +OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:SNORD27 semapv:UnspecifiedMatching +OMIM:603226 RNU27 skos:exactMatch ncbigene:9301 semapv:UnspecifiedMatching +OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:10150 semapv:UnspecifiedMatching +OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:SNORD28 semapv:UnspecifiedMatching +OMIM:603227 RNU28 skos:exactMatch ncbigene:9300 semapv:UnspecifiedMatching +OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:10151 semapv:UnspecifiedMatching +OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:SNORD29 semapv:UnspecifiedMatching +OMIM:603228 RNU29 skos:exactMatch ncbigene:9297 semapv:UnspecifiedMatching +OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:10157 semapv:UnspecifiedMatching +OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:SNORD30 semapv:UnspecifiedMatching +OMIM:603229 RNU30 skos:exactMatch ncbigene:9299 semapv:UnspecifiedMatching +OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:10158 semapv:UnspecifiedMatching +OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:SNORD31 semapv:UnspecifiedMatching +OMIM:603230 RNU31 skos:exactMatch ncbigene:9298 semapv:UnspecifiedMatching +OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:12993 semapv:UnspecifiedMatching +OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:ZNF200 semapv:UnspecifiedMatching +OMIM:603231 ZNF200 skos:exactMatch ncbigene:7752 semapv:UnspecifiedMatching +OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:8194 semapv:UnspecifiedMatching +OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:OR1F1 semapv:UnspecifiedMatching +OMIM:603232 OR1F1 skos:exactMatch ncbigene:4992 semapv:UnspecifiedMatching +OMIM:603233 pseudohypoparathyroidism, iia 1b skos:exactMatch MONDO:0011301 semapv:UnspecifiedMatching +OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:57 semapv:UnspecifiedMatching +OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:ABCC6 semapv:UnspecifiedMatching +OMIM:603234 ABCC6 skos:exactMatch ncbigene:368 semapv:UnspecifiedMatching +OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:10752 semapv:UnspecifiedMatching +OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:SELENOW semapv:UnspecifiedMatching +OMIM:603235 SELENOW skos:exactMatch ncbigene:6415 semapv:UnspecifiedMatching +OMIM:603236 MVD skos:exactMatch hgnc.symbol:7529 semapv:UnspecifiedMatching +OMIM:603236 MVD skos:exactMatch hgnc.symbol:MVD semapv:UnspecifiedMatching +OMIM:603236 MVD skos:exactMatch ncbigene:4597 semapv:UnspecifiedMatching +OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:3379 semapv:UnspecifiedMatching +OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:EPB41L2 semapv:UnspecifiedMatching +OMIM:603237 EPB41L2 skos:exactMatch ncbigene:2037 semapv:UnspecifiedMatching +OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:10118 semapv:UnspecifiedMatching +OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:SNHG3 semapv:UnspecifiedMatching +OMIM:603238 RNU17D skos:exactMatch ncbigene:8420 semapv:UnspecifiedMatching +OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:10116 semapv:UnspecifiedMatching +OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:SNORA73B semapv:UnspecifiedMatching +OMIM:603239 SNORA73B skos:exactMatch ncbigene:26768 semapv:UnspecifiedMatching +OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:10965 semapv:UnspecifiedMatching +OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:SLC22A18AS semapv:UnspecifiedMatching +OMIM:603240 SLC22A18AS skos:exactMatch ncbigene:5003 semapv:UnspecifiedMatching +OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:6705 semapv:UnspecifiedMatching +OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:LSAMP semapv:UnspecifiedMatching +OMIM:603241 LSAMP skos:exactMatch ncbigene:4045 semapv:UnspecifiedMatching +OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:2053 semapv:UnspecifiedMatching +OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:CLEC2B semapv:UnspecifiedMatching +OMIM:603242 CLEC2B skos:exactMatch ncbigene:9976 semapv:UnspecifiedMatching +OMIM:603243 AMFR skos:exactMatch hgnc.symbol:463 semapv:UnspecifiedMatching +OMIM:603243 AMFR skos:exactMatch hgnc.symbol:AMFR semapv:UnspecifiedMatching +OMIM:603243 AMFR skos:exactMatch ncbigene:267 semapv:UnspecifiedMatching +OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:5194 semapv:UnspecifiedMatching +OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:HS3ST1 semapv:UnspecifiedMatching +OMIM:603244 HS3ST1 skos:exactMatch ncbigene:9957 semapv:UnspecifiedMatching +OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:16364 semapv:UnspecifiedMatching +OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:NKX2-8 semapv:UnspecifiedMatching +OMIM:603245 NKX2-8 skos:exactMatch ncbigene:26257 semapv:UnspecifiedMatching +OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:4664 semapv:UnspecifiedMatching +OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:GTF3C1 semapv:UnspecifiedMatching +OMIM:603246 GTF3C1 skos:exactMatch ncbigene:2975 semapv:UnspecifiedMatching +OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:10996 semapv:UnspecifiedMatching +OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:SLC27A2 semapv:UnspecifiedMatching +OMIM:603247 SLC27A2 skos:exactMatch ncbigene:11001 semapv:UnspecifiedMatching +OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:1077 semapv:UnspecifiedMatching +OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:BMPR1B semapv:UnspecifiedMatching +OMIM:603248 BMPR1B skos:exactMatch ncbigene:658 semapv:UnspecifiedMatching +OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:7827 semapv:UnspecifiedMatching +OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:NIPSNAP1 semapv:UnspecifiedMatching +OMIM:603249 NIPSNAP1 skos:exactMatch ncbigene:8508 semapv:UnspecifiedMatching +OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:3810 semapv:UnspecifiedMatching +OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:FOXF2 semapv:UnspecifiedMatching +OMIM:603250 FOXF2 skos:exactMatch ncbigene:2295 semapv:UnspecifiedMatching +OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:1780 semapv:UnspecifiedMatching +OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:CDK9 semapv:UnspecifiedMatching +OMIM:603251 CDK9 skos:exactMatch ncbigene:1025 semapv:UnspecifiedMatching +OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:3817 semapv:UnspecifiedMatching +OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:FOXL1 semapv:UnspecifiedMatching +OMIM:603252 FOXL1 skos:exactMatch ncbigene:2300 semapv:UnspecifiedMatching +OMIM:603253 CST7 skos:exactMatch hgnc.symbol:2479 semapv:UnspecifiedMatching +OMIM:603253 CST7 skos:exactMatch hgnc.symbol:CST7 semapv:UnspecifiedMatching +OMIM:603253 CST7 skos:exactMatch ncbigene:8530 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch UMLS:C1335843 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch UMLS:C2750074 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch UMLS:C3553249 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:11100 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:SMARCA4 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch ncbigene:6597 semapv:UnspecifiedMatching +OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:7803 semapv:UnspecifiedMatching +OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:NFX1 semapv:UnspecifiedMatching +OMIM:603255 NFX1 skos:exactMatch ncbigene:4799 semapv:UnspecifiedMatching +OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:6702 semapv:UnspecifiedMatching +OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:LRRFIP1 semapv:UnspecifiedMatching +OMIM:603256 LRRFIP1 skos:exactMatch ncbigene:9208 semapv:UnspecifiedMatching +OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:11099 semapv:UnspecifiedMatching +OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:HLTF semapv:UnspecifiedMatching +OMIM:603257 SMARCA3 skos:exactMatch ncbigene:6596 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch UMLS:C1442489 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:5960 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:IKBKB semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch ncbigene:3551 semapv:UnspecifiedMatching +OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:955 semapv:UnspecifiedMatching +OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:BARX1 semapv:UnspecifiedMatching +OMIM:603260 BARX1 skos:exactMatch ncbigene:56033 semapv:UnspecifiedMatching +OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:8998 semapv:UnspecifiedMatching +OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:PIP4K2B semapv:UnspecifiedMatching +OMIM:603261 PIP4K2B skos:exactMatch ncbigene:8396 semapv:UnspecifiedMatching +OMIM:603262 PAPSS1 skos:exactMatch hgnc.symbol:8603 semapv:UnspecifiedMatching +OMIM:603262 PAPSS1 skos:exactMatch hgnc.symbol:PAPSS1 semapv:UnspecifiedMatching +OMIM:603262 PAPSS1 skos:exactMatch ncbigene:9061 semapv:UnspecifiedMatching +OMIM:603263 CA12 skos:exactMatch hgnc.symbol:1371 semapv:UnspecifiedMatching +OMIM:603263 CA12 skos:exactMatch hgnc.symbol:CA12 semapv:UnspecifiedMatching +OMIM:603263 CA12 skos:exactMatch ncbigene:771 semapv:UnspecifiedMatching +OMIM:603264 RHBDL1 skos:exactMatch hgnc.symbol:10007 semapv:UnspecifiedMatching +OMIM:603264 RHBDL1 skos:exactMatch hgnc.symbol:RHBDL1 semapv:UnspecifiedMatching +OMIM:603264 RHBDL1 skos:exactMatch ncbigene:9028 semapv:UnspecifiedMatching +OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:3031 semapv:UnspecifiedMatching +OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:ARID3A semapv:UnspecifiedMatching +OMIM:603265 ARID3A skos:exactMatch ncbigene:1820 semapv:UnspecifiedMatching +OMIM:603266 iia 1 diabetes mellitus 17 skos:exactMatch MONDO:0011302 semapv:UnspecifiedMatching +OMIM:603266 iia 1 diabetes mellitus 17 skos:exactMatch UMLS:C1864068 semapv:UnspecifiedMatching +OMIM:603267 CAPN15 skos:exactMatch UMLS:C1420309 semapv:UnspecifiedMatching +OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:11182 semapv:UnspecifiedMatching +OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:CAPN15 semapv:UnspecifiedMatching +OMIM:603267 CAPN15 skos:exactMatch ncbigene:6650 semapv:UnspecifiedMatching +OMIM:603268 NDST2 skos:exactMatch hgnc.symbol:7681 semapv:UnspecifiedMatching +OMIM:603268 NDST2 skos:exactMatch hgnc.symbol:NDST2 semapv:UnspecifiedMatching +OMIM:603268 NDST2 skos:exactMatch ncbigene:8509 semapv:UnspecifiedMatching +OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:16988 semapv:UnspecifiedMatching +OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:SRSF8 semapv:UnspecifiedMatching +OMIM:603269 SRSF8 skos:exactMatch ncbigene:10929 semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch UMLS:C1412661 semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:840 semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:ATP5PB semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch ncbigene:515 semapv:UnspecifiedMatching +OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:9651 semapv:UnspecifiedMatching +OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:PTPN21 semapv:UnspecifiedMatching +OMIM:603271 PTPN21 skos:exactMatch ncbigene:11099 semapv:UnspecifiedMatching +OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:19700 semapv:UnspecifiedMatching +OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:CNKSR1 semapv:UnspecifiedMatching +OMIM:603272 CNKSR1 skos:exactMatch ncbigene:10256 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1422009 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1854442 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1858562 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch hgnc.symbol:15979 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch hgnc.symbol:TP63 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch ncbigene:8626 semapv:UnspecifiedMatching +OMIM:603275 PIP5K1A skos:exactMatch hgnc.symbol:8994 semapv:UnspecifiedMatching +OMIM:603275 PIP5K1A skos:exactMatch hgnc.symbol:PIP5K1A semapv:UnspecifiedMatching +OMIM:603275 PIP5K1A skos:exactMatch ncbigene:8394 semapv:UnspecifiedMatching +OMIM:603276 RGS5 skos:exactMatch hgnc.symbol:10001 semapv:UnspecifiedMatching +OMIM:603276 RGS5 skos:exactMatch hgnc.symbol:RGS5 semapv:UnspecifiedMatching +OMIM:603276 RGS5 skos:exactMatch ncbigene:8490 semapv:UnspecifiedMatching +OMIM:603277 CHD4 skos:exactMatch hgnc.symbol:1919 semapv:UnspecifiedMatching +OMIM:603277 CHD4 skos:exactMatch hgnc.symbol:CHD4 semapv:UnspecifiedMatching +OMIM:603277 CHD4 skos:exactMatch ncbigene:1108 semapv:UnspecifiedMatching +OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch MONDO:0011303 semapv:UnspecifiedMatching +OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch UMLS:C4551527 semapv:UnspecifiedMatching +OMIM:603279 ERDA1 skos:exactMatch hgnc.symbol:3442 semapv:UnspecifiedMatching +OMIM:603279 ERDA1 skos:exactMatch hgnc.symbol:ERDA1 semapv:UnspecifiedMatching +OMIM:603279 ERDA1 skos:exactMatch ncbigene:9030 semapv:UnspecifiedMatching +OMIM:603281 OASL skos:exactMatch hgnc.symbol:8090 semapv:UnspecifiedMatching +OMIM:603281 OASL skos:exactMatch hgnc.symbol:OASL semapv:UnspecifiedMatching +OMIM:603281 OASL skos:exactMatch ncbigene:8638 semapv:UnspecifiedMatching +OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc.symbol:12995 semapv:UnspecifiedMatching +OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc.symbol:ZNF204P semapv:UnspecifiedMatching +OMIM:603283 TRDN skos:exactMatch hgnc.symbol:12261 semapv:UnspecifiedMatching +OMIM:603283 TRDN skos:exactMatch hgnc.symbol:TRDN semapv:UnspecifiedMatching +OMIM:603283 TRDN skos:exactMatch ncbigene:10345 semapv:UnspecifiedMatching +OMIM:603284 cerebral cavernous malformations 2 skos:exactMatch MONDO:0011304 semapv:UnspecifiedMatching +OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch MONDO:0011305 semapv:UnspecifiedMatching +OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching +OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch UMLS:C1864040 semapv:UnspecifiedMatching +OMIM:603286 KISS1 skos:exactMatch hgnc.symbol:6341 semapv:UnspecifiedMatching +OMIM:603286 KISS1 skos:exactMatch hgnc.symbol:KISS1 semapv:UnspecifiedMatching +OMIM:603286 KISS1 skos:exactMatch ncbigene:3814 semapv:UnspecifiedMatching +OMIM:603287 PNPO skos:exactMatch hgnc.symbol:30260 semapv:UnspecifiedMatching +OMIM:603287 PNPO skos:exactMatch hgnc.symbol:PNPO semapv:UnspecifiedMatching +OMIM:603287 PNPO skos:exactMatch ncbigene:55163 semapv:UnspecifiedMatching +OMIM:603288 KERA skos:exactMatch hgnc.symbol:6309 semapv:UnspecifiedMatching +OMIM:603288 KERA skos:exactMatch hgnc.symbol:KERA semapv:UnspecifiedMatching +OMIM:603288 KERA skos:exactMatch ncbigene:11081 semapv:UnspecifiedMatching +OMIM:603289 DAPK3 skos:exactMatch hgnc.symbol:2676 semapv:UnspecifiedMatching +OMIM:603289 DAPK3 skos:exactMatch hgnc.symbol:DAPK3 semapv:UnspecifiedMatching +OMIM:603289 DAPK3 skos:exactMatch ncbigene:1613 semapv:UnspecifiedMatching +OMIM:603290 SHANK2 skos:exactMatch hgnc.symbol:14295 semapv:UnspecifiedMatching +OMIM:603290 SHANK2 skos:exactMatch hgnc.symbol:SHANK2 semapv:UnspecifiedMatching +OMIM:603290 SHANK2 skos:exactMatch ncbigene:22941 semapv:UnspecifiedMatching +OMIM:603291 BNIP1 skos:exactMatch hgnc.symbol:1082 semapv:UnspecifiedMatching +OMIM:603291 BNIP1 skos:exactMatch hgnc.symbol:BNIP1 semapv:UnspecifiedMatching +OMIM:603291 BNIP1 skos:exactMatch ncbigene:662 semapv:UnspecifiedMatching +OMIM:603292 BNIP2 skos:exactMatch hgnc.symbol:1083 semapv:UnspecifiedMatching +OMIM:603292 BNIP2 skos:exactMatch hgnc.symbol:BNIP2 semapv:UnspecifiedMatching +OMIM:603292 BNIP2 skos:exactMatch ncbigene:663 semapv:UnspecifiedMatching +OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:1084 semapv:UnspecifiedMatching +OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:BNIP3 semapv:UnspecifiedMatching +OMIM:603293 BNIP3 skos:exactMatch ncbigene:664 semapv:UnspecifiedMatching +OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:6946 semapv:UnspecifiedMatching +OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:MCM3AP semapv:UnspecifiedMatching +OMIM:603294 MCM3AP skos:exactMatch ncbigene:8888 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch UMLS:C1416964 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch UMLS:C3888002 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:6774 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:SMAD9 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch ncbigene:4093 semapv:UnspecifiedMatching +OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:15606 semapv:UnspecifiedMatching +OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:LAMTOR3 semapv:UnspecifiedMatching +OMIM:603296 LAMTOR3 skos:exactMatch ncbigene:8649 semapv:UnspecifiedMatching +OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:2962 semapv:UnspecifiedMatching +OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:DYNC2H1 semapv:UnspecifiedMatching +OMIM:603297 DYNC2H1 skos:exactMatch ncbigene:79659 semapv:UnspecifiedMatching +OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:9326 semapv:UnspecifiedMatching +OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:PPT2 semapv:UnspecifiedMatching +OMIM:603298 PPT2 skos:exactMatch ncbigene:9374 semapv:UnspecifiedMatching +OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:11895 semapv:UnspecifiedMatching +OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:TNFAIP2 semapv:UnspecifiedMatching +OMIM:603300 TNFAIP2 skos:exactMatch ncbigene:7127 semapv:UnspecifiedMatching +OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:11811 semapv:UnspecifiedMatching +OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:KLF11 semapv:UnspecifiedMatching +OMIM:603301 KLF11 skos:exactMatch ncbigene:8462 semapv:UnspecifiedMatching +OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:240 semapv:UnspecifiedMatching +OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:ADCY9 semapv:UnspecifiedMatching +OMIM:603302 ADCY9 skos:exactMatch ncbigene:115 semapv:UnspecifiedMatching +OMIM:603303 TNKS skos:exactMatch hgnc.symbol:11941 semapv:UnspecifiedMatching +OMIM:603303 TNKS skos:exactMatch hgnc.symbol:TNKS semapv:UnspecifiedMatching +OMIM:603303 TNKS skos:exactMatch ncbigene:8658 semapv:UnspecifiedMatching +OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:6113 semapv:UnspecifiedMatching +OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:IRAK2 semapv:UnspecifiedMatching +OMIM:603304 IRAK2 skos:exactMatch ncbigene:3656 semapv:UnspecifiedMatching +OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:6250 semapv:UnspecifiedMatching +OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:KCNH1 semapv:UnspecifiedMatching +OMIM:603305 KCNH1 skos:exactMatch ncbigene:3756 semapv:UnspecifiedMatching +OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:11632 semapv:UnspecifiedMatching +OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:TCF21 semapv:UnspecifiedMatching +OMIM:603306 TCF21 skos:exactMatch ncbigene:6943 semapv:UnspecifiedMatching +OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:1040 semapv:UnspecifiedMatching +OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:BFSP1 semapv:UnspecifiedMatching +OMIM:603307 BFSP1 skos:exactMatch ncbigene:631 semapv:UnspecifiedMatching +OMIM:603308 CTSV skos:exactMatch hgnc.symbol:2538 semapv:UnspecifiedMatching +OMIM:603308 CTSV skos:exactMatch hgnc.symbol:CTSV semapv:UnspecifiedMatching +OMIM:603308 CTSV skos:exactMatch ncbigene:1515 semapv:UnspecifiedMatching +OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:1733 semapv:UnspecifiedMatching +OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:CDK13 semapv:UnspecifiedMatching +OMIM:603309 CDK13 skos:exactMatch ncbigene:8621 semapv:UnspecifiedMatching +OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:8784 semapv:UnspecifiedMatching +OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:PDE5A semapv:UnspecifiedMatching +OMIM:603310 PDE5A skos:exactMatch ncbigene:8654 semapv:UnspecifiedMatching +OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:1745 semapv:UnspecifiedMatching +OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:CDC7 semapv:UnspecifiedMatching +OMIM:603311 CDC7 skos:exactMatch ncbigene:8317 semapv:UnspecifiedMatching +OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:964 semapv:UnspecifiedMatching +OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:BBOX1 semapv:UnspecifiedMatching +OMIM:603312 BBOX1 skos:exactMatch ncbigene:8424 semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch UMLS:C1538264 semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch UMLS:C4016828 semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:31088 semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:ALG10B semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch ncbigene:144245 semapv:UnspecifiedMatching +OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:10999 semapv:UnspecifiedMatching +OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:SLC27A5 semapv:UnspecifiedMatching +OMIM:603314 SLC27A5 skos:exactMatch ncbigene:10998 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch UMLS:C1414814 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:3953 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:NCS1 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch ncbigene:23413 semapv:UnspecifiedMatching +OMIM:603316 CMAS skos:exactMatch hgnc.symbol:18290 semapv:UnspecifiedMatching +OMIM:603316 CMAS skos:exactMatch hgnc.symbol:CMAS semapv:UnspecifiedMatching +OMIM:603316 CMAS skos:exactMatch ncbigene:55907 semapv:UnspecifiedMatching +OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:9679 semapv:UnspecifiedMatching +OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:PTPRQ semapv:UnspecifiedMatching +OMIM:603317 PTPRQ skos:exactMatch ncbigene:374462 semapv:UnspecifiedMatching +OMIM:603319 ANXA9 skos:exactMatch hgnc.symbol:547 semapv:UnspecifiedMatching +OMIM:603319 ANXA9 skos:exactMatch hgnc.symbol:ANXA9 semapv:UnspecifiedMatching +OMIM:603319 ANXA9 skos:exactMatch ncbigene:8416 semapv:UnspecifiedMatching +OMIM:603320 MMP23A skos:exactMatch hgnc.symbol:7170 semapv:UnspecifiedMatching +OMIM:603320 MMP23A skos:exactMatch hgnc.symbol:MMP23A semapv:UnspecifiedMatching +OMIM:603320 MMP23A skos:exactMatch ncbigene:8511 semapv:UnspecifiedMatching +OMIM:603321 MMP23B skos:exactMatch hgnc.symbol:7171 semapv:UnspecifiedMatching +OMIM:603321 MMP23B skos:exactMatch hgnc.symbol:MMP23B semapv:UnspecifiedMatching +OMIM:603321 MMP23B skos:exactMatch ncbigene:8510 semapv:UnspecifiedMatching +OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:7701 semapv:UnspecifiedMatching +OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:NDUFB6 semapv:UnspecifiedMatching +OMIM:603322 NDUFB6 skos:exactMatch ncbigene:4712 semapv:UnspecifiedMatching +OMIM:603323 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch MONDO:0011306 semapv:UnspecifiedMatching +OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:4285 semapv:UnspecifiedMatching +OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:GJB3 semapv:UnspecifiedMatching +OMIM:603324 GJB3 skos:exactMatch ncbigene:2707 semapv:UnspecifiedMatching +OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:9298 semapv:UnspecifiedMatching +OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:PPP1R9B semapv:UnspecifiedMatching +OMIM:603325 PPP1R9B skos:exactMatch ncbigene:84687 semapv:UnspecifiedMatching +OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:9294 semapv:UnspecifiedMatching +OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:PPP1R3D semapv:UnspecifiedMatching +OMIM:603326 PPP1R3D skos:exactMatch ncbigene:5509 semapv:UnspecifiedMatching +OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:9850 semapv:UnspecifiedMatching +OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:RANBP3 semapv:UnspecifiedMatching +OMIM:603327 RANBP3 skos:exactMatch ncbigene:8498 semapv:UnspecifiedMatching +OMIM:603328 MSI1 skos:exactMatch UMLS:C1417335 semapv:UnspecifiedMatching +OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:7330 semapv:UnspecifiedMatching +OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:MSI1 semapv:UnspecifiedMatching +OMIM:603328 MSI1 skos:exactMatch ncbigene:4440 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch UMLS:C1414104 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch UMLS:C4749090 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:2953 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:DNAH9 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch ncbigene:1770 semapv:UnspecifiedMatching +OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:2964 semapv:UnspecifiedMatching +OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:DYNC1I2 semapv:UnspecifiedMatching +OMIM:603331 DYNC1I2 skos:exactMatch ncbigene:1781 semapv:UnspecifiedMatching +OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:2940 semapv:UnspecifiedMatching +OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:DNAH1 semapv:UnspecifiedMatching +OMIM:603332 DNAH1 skos:exactMatch ncbigene:25981 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch UMLS:C1414099 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:2948 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:DNAH2 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch ncbigene:146754 semapv:UnspecifiedMatching +OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:2949 semapv:UnspecifiedMatching +OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:DNAH3 semapv:UnspecifiedMatching +OMIM:603334 DNAH3 skos:exactMatch ncbigene:55567 semapv:UnspecifiedMatching +OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:2950 semapv:UnspecifiedMatching +OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:DNAH5 semapv:UnspecifiedMatching +OMIM:603335 DNAH5 skos:exactMatch ncbigene:1767 semapv:UnspecifiedMatching +OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:2951 semapv:UnspecifiedMatching +OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:DNAH6 semapv:UnspecifiedMatching +OMIM:603336 DNAH6 skos:exactMatch ncbigene:1768 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch UMLS:C1414103 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:2952 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:DNAH8 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch ncbigene:1769 semapv:UnspecifiedMatching +OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:2942 semapv:UnspecifiedMatching +OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:DNAH11 semapv:UnspecifiedMatching +OMIM:603339 DNAH11 skos:exactMatch ncbigene:8701 semapv:UnspecifiedMatching +OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:2943 semapv:UnspecifiedMatching +OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:DNAH12 semapv:UnspecifiedMatching +OMIM:603340 DNAH12 skos:exactMatch ncbigene:201625 semapv:UnspecifiedMatching +OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:2945 semapv:UnspecifiedMatching +OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:DNAH14 semapv:UnspecifiedMatching +OMIM:603341 DNAH14 skos:exactMatch ncbigene:127602 semapv:UnspecifiedMatching +OMIM:603342 schizophrenia 2 skos:exactMatch MONDO:0011307 semapv:UnspecifiedMatching +OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:9828 semapv:UnspecifiedMatching +OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:RAE1 semapv:UnspecifiedMatching +OMIM:603343 RAE1 skos:exactMatch ncbigene:8480 semapv:UnspecifiedMatching +OMIM:603344 USO1 skos:exactMatch hgnc.symbol:30904 semapv:UnspecifiedMatching +OMIM:603344 USO1 skos:exactMatch hgnc.symbol:USO1 semapv:UnspecifiedMatching +OMIM:603344 USO1 skos:exactMatch ncbigene:8615 semapv:UnspecifiedMatching +OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:11030 semapv:UnspecifiedMatching +OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:SLC4A4 semapv:UnspecifiedMatching +OMIM:603345 SLC4A4 skos:exactMatch ncbigene:8671 semapv:UnspecifiedMatching +OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:7894 semapv:UnspecifiedMatching +OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:NPAS1 semapv:UnspecifiedMatching +OMIM:603346 NPAS1 skos:exactMatch ncbigene:4861 semapv:UnspecifiedMatching +OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:7895 semapv:UnspecifiedMatching +OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:NPAS2 semapv:UnspecifiedMatching +OMIM:603347 NPAS2 skos:exactMatch ncbigene:4862 semapv:UnspecifiedMatching +OMIM:603348 HIF1A skos:exactMatch UMLS:C1333897 semapv:UnspecifiedMatching +OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:4910 semapv:UnspecifiedMatching +OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:HIF1A semapv:UnspecifiedMatching +OMIM:603348 HIF1A skos:exactMatch ncbigene:3091 semapv:UnspecifiedMatching +OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:3374 semapv:UnspecifiedMatching +OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:EPAS1 semapv:UnspecifiedMatching +OMIM:603349 EPAS1 skos:exactMatch ncbigene:2034 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch UMLS:C1417913 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:8087 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:OAS2 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch ncbigene:4939 semapv:UnspecifiedMatching +OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:8088 semapv:UnspecifiedMatching +OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:OAS3 semapv:UnspecifiedMatching +OMIM:603351 OAS3 skos:exactMatch ncbigene:4940 semapv:UnspecifiedMatching +OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:593 semapv:UnspecifiedMatching +OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:BIRC5 semapv:UnspecifiedMatching +OMIM:603352 BIRC5 skos:exactMatch ncbigene:332 semapv:UnspecifiedMatching +OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:11033 semapv:UnspecifiedMatching +OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:SLC4A7 semapv:UnspecifiedMatching +OMIM:603353 SLC4A7 skos:exactMatch ncbigene:9497 semapv:UnspecifiedMatching +OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:4185 semapv:UnspecifiedMatching +OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:GBX1 semapv:UnspecifiedMatching +OMIM:603354 GBX1 skos:exactMatch ncbigene:2636 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch UMLS:C1423502 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch UMLS:C5193071 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:15456 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:MBTPS1 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch ncbigene:8720 semapv:UnspecifiedMatching +OMIM:603356 CD164 skos:exactMatch hgnc.symbol:1632 semapv:UnspecifiedMatching +OMIM:603356 CD164 skos:exactMatch hgnc.symbol:CD164 semapv:UnspecifiedMatching +OMIM:603356 CD164 skos:exactMatch ncbigene:8763 semapv:UnspecifiedMatching +OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:13902 semapv:UnspecifiedMatching +OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:SERPINB7 semapv:UnspecifiedMatching +OMIM:603357 SERPINB7 skos:exactMatch ncbigene:8710 semapv:UnspecifiedMatching +OMIM:603358 gracile syndrome skos:exactMatch MONDO:0011308 semapv:UnspecifiedMatching +OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:7692 semapv:UnspecifiedMatching +OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:NDUFA8 semapv:UnspecifiedMatching +OMIM:603359 NDUFA8 skos:exactMatch ncbigene:4702 semapv:UnspecifiedMatching +OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:8857 semapv:UnspecifiedMatching +OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:PEX16 semapv:UnspecifiedMatching +OMIM:603360 PEX16 skos:exactMatch ncbigene:9409 semapv:UnspecifiedMatching +OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:11921 semapv:UnspecifiedMatching +OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:TNFRSF6B semapv:UnspecifiedMatching +OMIM:603361 TNFRSF6B skos:exactMatch ncbigene:8771 semapv:UnspecifiedMatching +OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:10832 semapv:UnspecifiedMatching +OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:SH3GL3 semapv:UnspecifiedMatching +OMIM:603362 SH3GL3 skos:exactMatch ncbigene:6457 semapv:UnspecifiedMatching +OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:1888 semapv:UnspecifiedMatching +OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:CGGBP1 semapv:UnspecifiedMatching +OMIM:603363 CGGBP1 skos:exactMatch ncbigene:8545 semapv:UnspecifiedMatching +OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:10785 semapv:UnspecifiedMatching +OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:SRSF3 semapv:UnspecifiedMatching +OMIM:603364 SRSF3 skos:exactMatch ncbigene:6428 semapv:UnspecifiedMatching +OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:4917 semapv:UnspecifiedMatching +OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:HIRIP3 semapv:UnspecifiedMatching +OMIM:603365 HIRIP3 skos:exactMatch ncbigene:8479 semapv:UnspecifiedMatching +OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:11910 semapv:UnspecifiedMatching +OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:TNFRSF25 semapv:UnspecifiedMatching +OMIM:603366 TNFRSF25 skos:exactMatch ncbigene:8718 semapv:UnspecifiedMatching +OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:1777 semapv:UnspecifiedMatching +OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:CDK6 semapv:UnspecifiedMatching +OMIM:603368 CDK6 skos:exactMatch ncbigene:1021 semapv:UnspecifiedMatching +OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:1789 semapv:UnspecifiedMatching +OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:CDKN2C semapv:UnspecifiedMatching +OMIM:603369 CDKN2C skos:exactMatch ncbigene:1031 semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch UMLS:C1442771 semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch hgnc.symbol:12525 semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch hgnc.symbol:UGDH semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch ncbigene:7358 semapv:UnspecifiedMatching +OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:4315 semapv:UnspecifiedMatching +OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:GLE1 semapv:UnspecifiedMatching +OMIM:603371 GLE1 skos:exactMatch ncbigene:2733 semapv:UnspecifiedMatching +OMIM:603372 TSHR skos:exactMatch hgnc.symbol:12373 semapv:UnspecifiedMatching +OMIM:603372 TSHR skos:exactMatch hgnc.symbol:TSHR semapv:UnspecifiedMatching +OMIM:603372 TSHR skos:exactMatch ncbigene:7253 semapv:UnspecifiedMatching +OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch MONDO:0011309 semapv:UnspecifiedMatching +OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch Orphanet:99819 semapv:UnspecifiedMatching +OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch UMLS:C1863959 semapv:UnspecifiedMatching +OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:11101 semapv:UnspecifiedMatching +OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:SMARCA5 semapv:UnspecifiedMatching +OMIM:603375 SMARCA5 skos:exactMatch ncbigene:8467 semapv:UnspecifiedMatching +OMIM:603376 long chain fatty acids, defect 1n transport of skos:exactMatch MONDO:0011310 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch UMLS:C1420140 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:10969 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:SLC22A5 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch ncbigene:6584 semapv:UnspecifiedMatching +OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:10532 semapv:UnspecifiedMatching +OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:SAP30 semapv:UnspecifiedMatching +OMIM:603378 SAP30 skos:exactMatch ncbigene:8819 semapv:UnspecifiedMatching +OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:6110 semapv:UnspecifiedMatching +OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:IQGAP1 semapv:UnspecifiedMatching +OMIM:603379 IQGAP1 skos:exactMatch ncbigene:8826 semapv:UnspecifiedMatching +OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:17787 semapv:UnspecifiedMatching +OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:LIN7A semapv:UnspecifiedMatching +OMIM:603380 LIN7A skos:exactMatch ncbigene:8825 semapv:UnspecifiedMatching +OMIM:603381 FLNB skos:exactMatch hgnc.symbol:3755 semapv:UnspecifiedMatching +OMIM:603381 FLNB skos:exactMatch hgnc.symbol:FLNB semapv:UnspecifiedMatching +OMIM:603381 FLNB skos:exactMatch ncbigene:2317 semapv:UnspecifiedMatching +OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:7328 semapv:UnspecifiedMatching +OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:MSH5 semapv:UnspecifiedMatching +OMIM:603382 MSH5 skos:exactMatch ncbigene:4439 semapv:UnspecifiedMatching +OMIM:603383 glaucoma 1, open angle, f skos:exactMatch MONDO:0011311 semapv:UnspecifiedMatching +OMIM:603383 glaucoma 1, open angle, f skos:exactMatch UMLS:C1863926 semapv:UnspecifiedMatching +OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:11497 semapv:UnspecifiedMatching +OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:SYNGAP1 semapv:UnspecifiedMatching +OMIM:603384 SYNGAP1 skos:exactMatch ncbigene:8831 semapv:UnspecifiedMatching +OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:621 semapv:UnspecifiedMatching +OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:NAE1 semapv:UnspecifiedMatching +OMIM:603385 NAE1 skos:exactMatch ncbigene:8883 semapv:UnspecifiedMatching +OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch MONDO:0011312 semapv:UnspecifiedMatching +OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch MONDO:0011313 semapv:UnspecifiedMatching +OMIM:603388 graves disease, susceptibility to, 2 skos:exactMatch MONDO:0011314 semapv:UnspecifiedMatching +OMIM:603389 osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch MONDO:0011315 semapv:UnspecifiedMatching +OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:8794 semapv:UnspecifiedMatching +OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:PDE8B semapv:UnspecifiedMatching +OMIM:603390 PDE8B skos:exactMatch ncbigene:8622 semapv:UnspecifiedMatching +OMIM:603392 BIK skos:exactMatch hgnc.symbol:1051 semapv:UnspecifiedMatching +OMIM:603392 BIK skos:exactMatch hgnc.symbol:BIK semapv:UnspecifiedMatching +OMIM:603392 BIK skos:exactMatch ncbigene:638 semapv:UnspecifiedMatching +OMIM:603393 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch MONDO:0011316 semapv:UnspecifiedMatching +OMIM:603394 microcephaly, severe, with skeletal anomalies including posterior rib-gap defects skos:exactMatch MONDO:0011317 semapv:UnspecifiedMatching +OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:11212 semapv:UnspecifiedMatching +OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:SPAG1 semapv:UnspecifiedMatching +OMIM:603395 SPAG1 skos:exactMatch ncbigene:6674 semapv:UnspecifiedMatching +OMIM:603396 tonoki syndrome skos:exactMatch MONDO:0011318 semapv:UnspecifiedMatching +OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:13076 semapv:UnspecifiedMatching +OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:ZNF282 semapv:UnspecifiedMatching +OMIM:603397 ZNF282 skos:exactMatch ncbigene:8427 semapv:UnspecifiedMatching +OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:12769 semapv:UnspecifiedMatching +OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:CCN4 semapv:UnspecifiedMatching +OMIM:603398 CCN4 skos:exactMatch ncbigene:8840 semapv:UnspecifiedMatching +OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:12770 semapv:UnspecifiedMatching +OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:CCN5 semapv:UnspecifiedMatching +OMIM:603399 CCN5 skos:exactMatch ncbigene:8839 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch UMLS:C1421509 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch UMLS:C5436955 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:12771 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:CCN6 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch ncbigene:8838 semapv:UnspecifiedMatching +OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:566 semapv:UnspecifiedMatching +OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:AP3B1 semapv:UnspecifiedMatching +OMIM:603401 AP3B1 skos:exactMatch ncbigene:8546 semapv:UnspecifiedMatching +OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:121 semapv:UnspecifiedMatching +OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:ACOX3 semapv:UnspecifiedMatching +OMIM:603402 ACOX3 skos:exactMatch ncbigene:8310 semapv:UnspecifiedMatching +OMIM:603403 DHX15 skos:exactMatch UMLS:C1413955 semapv:UnspecifiedMatching +OMIM:603403 DHX15 skos:exactMatch hgnc.symbol:2738 semapv:UnspecifiedMatching +OMIM:603403 DHX15 skos:exactMatch hgnc.symbol:DHX15 semapv:UnspecifiedMatching +OMIM:603403 DHX15 skos:exactMatch ncbigene:1665 semapv:UnspecifiedMatching +OMIM:603404 ZNF169 skos:exactMatch hgnc.symbol:12957 semapv:UnspecifiedMatching +OMIM:603404 ZNF169 skos:exactMatch hgnc.symbol:ZNF169 semapv:UnspecifiedMatching +OMIM:603404 ZNF169 skos:exactMatch ncbigene:169841 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch UMLS:C1333208 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch hgnc.symbol:2739 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch hgnc.symbol:DHX16 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch ncbigene:8449 semapv:UnspecifiedMatching +OMIM:603406 TRIM24 skos:exactMatch hgnc.symbol:11812 semapv:UnspecifiedMatching +OMIM:603406 TRIM24 skos:exactMatch hgnc.symbol:TRIM24 semapv:UnspecifiedMatching +OMIM:603406 TRIM24 skos:exactMatch ncbigene:8805 semapv:UnspecifiedMatching +OMIM:603407 PABPC4 skos:exactMatch hgnc.symbol:8557 semapv:UnspecifiedMatching +OMIM:603407 PABPC4 skos:exactMatch hgnc.symbol:PABPC4 semapv:UnspecifiedMatching +OMIM:603407 PABPC4 skos:exactMatch ncbigene:8761 semapv:UnspecifiedMatching +OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:4038 semapv:UnspecifiedMatching +OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:FZD1 semapv:UnspecifiedMatching +OMIM:603408 FZD1 skos:exactMatch ncbigene:8321 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch UMLS:C1333587 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:4044 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:FZD6 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch ncbigene:8323 semapv:UnspecifiedMatching +OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:4045 semapv:UnspecifiedMatching +OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:FZD7 semapv:UnspecifiedMatching +OMIM:603410 FZD7 skos:exactMatch ncbigene:8324 semapv:UnspecifiedMatching +OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:1737 semapv:UnspecifiedMatching +OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:CDC42BPA semapv:UnspecifiedMatching +OMIM:603412 CDC42BPA skos:exactMatch ncbigene:8476 semapv:UnspecifiedMatching +OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:11804 semapv:UnspecifiedMatching +OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:TIAL1 semapv:UnspecifiedMatching +OMIM:603413 TIAL1 skos:exactMatch ncbigene:7073 semapv:UnspecifiedMatching +OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:11863 semapv:UnspecifiedMatching +OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:TM7SF2 semapv:UnspecifiedMatching +OMIM:603414 TM7SF2 skos:exactMatch ncbigene:7108 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C1419867 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C1833661 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C4012054 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:10597 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:SCN9A semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch ncbigene:6335 semapv:UnspecifiedMatching +OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch MONDO:0011319 semapv:UnspecifiedMatching +OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:10314 semapv:UnspecifiedMatching +OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:RPL21P1 semapv:UnspecifiedMatching +OMIM:603417 RABIF skos:exactMatch hgnc.symbol:9797 semapv:UnspecifiedMatching +OMIM:603417 RABIF skos:exactMatch hgnc.symbol:RABIF semapv:UnspecifiedMatching +OMIM:603417 RABIF skos:exactMatch ncbigene:5877 semapv:UnspecifiedMatching +OMIM:603418 AKR7A2 skos:exactMatch hgnc.symbol:389 semapv:UnspecifiedMatching +OMIM:603418 AKR7A2 skos:exactMatch hgnc.symbol:AKR7A2 semapv:UnspecifiedMatching +OMIM:603418 AKR7A2 skos:exactMatch ncbigene:8574 semapv:UnspecifiedMatching +OMIM:603419 SGTA skos:exactMatch hgnc.symbol:10819 semapv:UnspecifiedMatching +OMIM:603419 SGTA skos:exactMatch hgnc.symbol:SGTA semapv:UnspecifiedMatching +OMIM:603419 SGTA skos:exactMatch ncbigene:6449 semapv:UnspecifiedMatching +OMIM:603420 CALU skos:exactMatch hgnc.symbol:1458 semapv:UnspecifiedMatching +OMIM:603420 CALU skos:exactMatch hgnc.symbol:CALU semapv:UnspecifiedMatching +OMIM:603420 CALU skos:exactMatch ncbigene:813 semapv:UnspecifiedMatching +OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:11866 semapv:UnspecifiedMatching +OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:TMEFF1 semapv:UnspecifiedMatching +OMIM:603421 TMEFF1 skos:exactMatch ncbigene:8577 semapv:UnspecifiedMatching +OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:16501 semapv:UnspecifiedMatching +OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:PDLIM4 semapv:UnspecifiedMatching +OMIM:603422 PDLIM4 skos:exactMatch ncbigene:8572 semapv:UnspecifiedMatching +OMIM:603423 PRDM1 skos:exactMatch UMLS:C1335253 semapv:UnspecifiedMatching +OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:9346 semapv:UnspecifiedMatching +OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:PRDM1 semapv:UnspecifiedMatching +OMIM:603423 PRDM1 skos:exactMatch ncbigene:639 semapv:UnspecifiedMatching +OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:9438 semapv:UnspecifiedMatching +OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:PRKRA semapv:UnspecifiedMatching +OMIM:603424 PRKRA skos:exactMatch ncbigene:8575 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch UMLS:C1412536 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:692 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:ARL1 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch ncbigene:400 semapv:UnspecifiedMatching +OMIM:603426 PER2 skos:exactMatch hgnc.symbol:8846 semapv:UnspecifiedMatching +OMIM:603426 PER2 skos:exactMatch hgnc.symbol:PER2 semapv:UnspecifiedMatching +OMIM:603426 PER2 skos:exactMatch ncbigene:8864 semapv:UnspecifiedMatching +OMIM:603427 PER3 skos:exactMatch hgnc.symbol:8847 semapv:UnspecifiedMatching +OMIM:603427 PER3 skos:exactMatch hgnc.symbol:PER3 semapv:UnspecifiedMatching +OMIM:603427 PER3 skos:exactMatch ncbigene:8863 semapv:UnspecifiedMatching +OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:12998 semapv:UnspecifiedMatching +OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:ZNF207 semapv:UnspecifiedMatching +OMIM:603428 ZNF207 skos:exactMatch ncbigene:7756 semapv:UnspecifiedMatching +OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:70 semapv:UnspecifiedMatching +OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:ABCF1 semapv:UnspecifiedMatching +OMIM:603429 ABCF1 skos:exactMatch ncbigene:23 semapv:UnspecifiedMatching +OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:12994 semapv:UnspecifiedMatching +OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:ZNF202 semapv:UnspecifiedMatching +OMIM:603430 ZNF202 skos:exactMatch ncbigene:7753 semapv:UnspecifiedMatching +OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:12741 semapv:UnspecifiedMatching +OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:EIF4H semapv:UnspecifiedMatching +OMIM:603431 EIF4H skos:exactMatch ncbigene:7458 semapv:UnspecifiedMatching +OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:2586 semapv:UnspecifiedMatching +OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:CLIP2 semapv:UnspecifiedMatching +OMIM:603432 CLIP2 skos:exactMatch ncbigene:7461 semapv:UnspecifiedMatching +OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:12928 semapv:UnspecifiedMatching +OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:ZNF143 semapv:UnspecifiedMatching +OMIM:603433 ZNF143 skos:exactMatch ncbigene:7702 semapv:UnspecifiedMatching +OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:8822 semapv:UnspecifiedMatching +OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:PEA15 semapv:UnspecifiedMatching +OMIM:603434 PEA15 skos:exactMatch ncbigene:8682 semapv:UnspecifiedMatching +OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:4557 semapv:UnspecifiedMatching +OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:GPX5 semapv:UnspecifiedMatching +OMIM:603435 GPX5 skos:exactMatch ncbigene:2880 semapv:UnspecifiedMatching +OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:12996 semapv:UnspecifiedMatching +OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:ZNF205 semapv:UnspecifiedMatching +OMIM:603436 ZNF205 skos:exactMatch ncbigene:7755 semapv:UnspecifiedMatching +OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:2428 semapv:UnspecifiedMatching +OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:YBX3 semapv:UnspecifiedMatching +OMIM:603437 YBX3 skos:exactMatch ncbigene:8531 semapv:UnspecifiedMatching +OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation skos:exactMatch MONDO:0011320 semapv:UnspecifiedMatching +OMIM:603439 expansile bone lesions skos:exactMatch MONDO:0011321 semapv:UnspecifiedMatching +OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:8750 semapv:UnspecifiedMatching +OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:CDK17 semapv:UnspecifiedMatching +OMIM:603440 CDK17 skos:exactMatch ncbigene:5128 semapv:UnspecifiedMatching +OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:1781 semapv:UnspecifiedMatching +OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:CDKL1 semapv:UnspecifiedMatching +OMIM:603441 CDKL1 skos:exactMatch ncbigene:8814 semapv:UnspecifiedMatching +OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:1782 semapv:UnspecifiedMatching +OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:CDKL2 semapv:UnspecifiedMatching +OMIM:603442 CDKL2 skos:exactMatch ncbigene:8999 semapv:UnspecifiedMatching +OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:10518 semapv:UnspecifiedMatching +OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:VPS52 semapv:UnspecifiedMatching +OMIM:603443 VPS52 skos:exactMatch ncbigene:6293 semapv:UnspecifiedMatching +OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:4004 semapv:UnspecifiedMatching +OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:FUBP1 semapv:UnspecifiedMatching +OMIM:603444 FUBP1 skos:exactMatch ncbigene:8880 semapv:UnspecifiedMatching +OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:6316 semapv:UnspecifiedMatching +OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:KHSRP semapv:UnspecifiedMatching +OMIM:603445 KHSRP skos:exactMatch ncbigene:8570 semapv:UnspecifiedMatching +OMIM:603446 oroacral syndrome, verloes-koulischer iia skos:exactMatch MONDO:0011322 semapv:UnspecifiedMatching +OMIM:603447 HRK skos:exactMatch hgnc.symbol:5185 semapv:UnspecifiedMatching +OMIM:603447 HRK skos:exactMatch hgnc.symbol:HRK semapv:UnspecifiedMatching +OMIM:603447 HRK skos:exactMatch ncbigene:8739 semapv:UnspecifiedMatching +OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:2661 semapv:UnspecifiedMatching +OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:DAB1 semapv:UnspecifiedMatching +OMIM:603448 DAB1 skos:exactMatch ncbigene:1600 semapv:UnspecifiedMatching +OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:10474 semapv:UnspecifiedMatching +OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:RUVBL1 semapv:UnspecifiedMatching +OMIM:603449 RUVBL1 skos:exactMatch ncbigene:8607 semapv:UnspecifiedMatching +OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:6533 semapv:UnspecifiedMatching +OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:LDB2 semapv:UnspecifiedMatching +OMIM:603450 LDB2 skos:exactMatch ncbigene:9079 semapv:UnspecifiedMatching +OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:6532 semapv:UnspecifiedMatching +OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:LDB1 semapv:UnspecifiedMatching +OMIM:603451 LDB1 skos:exactMatch ncbigene:8861 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch UMLS:C1335623 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:10019 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:RIPK1 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch ncbigene:8737 semapv:UnspecifiedMatching +OMIM:603454 CRADD skos:exactMatch hgnc.symbol:2340 semapv:UnspecifiedMatching +OMIM:603454 CRADD skos:exactMatch hgnc.symbol:CRADD semapv:UnspecifiedMatching +OMIM:603454 CRADD skos:exactMatch ncbigene:8738 semapv:UnspecifiedMatching +OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:10020 semapv:UnspecifiedMatching +OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:RIPK2 semapv:UnspecifiedMatching +OMIM:603455 RIPK2 skos:exactMatch ncbigene:8767 semapv:UnspecifiedMatching +OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:3004 semapv:UnspecifiedMatching +OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:DPH2 semapv:UnspecifiedMatching +OMIM:603456 DPH2 skos:exactMatch ncbigene:1802 semapv:UnspecifiedMatching +OMIM:603457 bosma arhinia microphthalmia syndrome skos:exactMatch MONDO:0011323 semapv:UnspecifiedMatching +OMIM:603458 ELAVL3 skos:exactMatch UMLS:C1414373 semapv:UnspecifiedMatching +OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:3314 semapv:UnspecifiedMatching +OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:ELAVL3 semapv:UnspecifiedMatching +OMIM:603458 ELAVL3 skos:exactMatch ncbigene:1995 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch UMLS:C1413285 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:1775 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:CDK5R1 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch ncbigene:8851 semapv:UnspecifiedMatching +OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:1720 semapv:UnspecifiedMatching +OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:CDC16 semapv:UnspecifiedMatching +OMIM:603461 CDC16 skos:exactMatch ncbigene:8881 semapv:UnspecifiedMatching +OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:1724 semapv:UnspecifiedMatching +OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:CDC23 semapv:UnspecifiedMatching +OMIM:603462 CDC23 skos:exactMatch ncbigene:8697 semapv:UnspecifiedMatching +OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:1770 semapv:UnspecifiedMatching +OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:CDK10 semapv:UnspecifiedMatching +OMIM:603464 CDK10 skos:exactMatch ncbigene:8558 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch UMLS:C1332724 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch UMLS:C4310738 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:1739 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:CDC45 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch ncbigene:8318 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch UMLS:C1414371 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:3312 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:ELAVL1 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch ncbigene:1994 semapv:UnspecifiedMatching +OMIM:603467 fanconi anemia, complementation group f skos:exactMatch MONDO:0011325 semapv:UnspecifiedMatching +OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:758 semapv:UnspecifiedMatching +OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:ASS1 semapv:UnspecifiedMatching +OMIM:603470 ASS1 skos:exactMatch ncbigene:445 semapv:UnspecifiedMatching +OMIM:603471 citrullinemia, iia ii, adult-onset skos:exactMatch MONDO:0011326 semapv:UnspecifiedMatching +OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch MONDO:0011327 semapv:UnspecifiedMatching +OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 semapv:UnspecifiedMatching +OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch UMLS:C1367460 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:6514 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:LATS1 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch ncbigene:9113 semapv:UnspecifiedMatching +OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:10402 semapv:UnspecifiedMatching +OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:RPS19 semapv:UnspecifiedMatching +OMIM:603474 RPS19 skos:exactMatch ncbigene:6223 semapv:UnspecifiedMatching +OMIM:603475 CHRD skos:exactMatch hgnc.symbol:1949 semapv:UnspecifiedMatching +OMIM:603475 CHRD skos:exactMatch hgnc.symbol:CHRD semapv:UnspecifiedMatching +OMIM:603475 CHRD skos:exactMatch ncbigene:8646 semapv:UnspecifiedMatching +OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:2350 semapv:UnspecifiedMatching +OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:CREBL2 semapv:UnspecifiedMatching +OMIM:603476 CREBL2 skos:exactMatch ncbigene:1389 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch UMLS:C1823197 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:29629 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:BUD31 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch ncbigene:8896 semapv:UnspecifiedMatching +OMIM:603478 USP1 skos:exactMatch hgnc.symbol:12607 semapv:UnspecifiedMatching +OMIM:603478 USP1 skos:exactMatch hgnc.symbol:USP1 semapv:UnspecifiedMatching +OMIM:603478 USP1 skos:exactMatch ncbigene:7398 semapv:UnspecifiedMatching +OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:3154 semapv:UnspecifiedMatching +OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:ECM2 semapv:UnspecifiedMatching +OMIM:603479 ECM2 skos:exactMatch ncbigene:1842 semapv:UnspecifiedMatching +OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:9558 semapv:UnspecifiedMatching +OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:PSMD13 semapv:UnspecifiedMatching +OMIM:603481 PSMD13 skos:exactMatch ncbigene:5719 semapv:UnspecifiedMatching +OMIM:603482 BTRC skos:exactMatch hgnc.symbol:1144 semapv:UnspecifiedMatching +OMIM:603482 BTRC skos:exactMatch hgnc.symbol:BTRC semapv:UnspecifiedMatching +OMIM:603482 BTRC skos:exactMatch ncbigene:8945 semapv:UnspecifiedMatching +OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:3290 semapv:UnspecifiedMatching +OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:EIF4EBP3 semapv:UnspecifiedMatching +OMIM:603483 EIF4EBP3 skos:exactMatch ncbigene:8637 semapv:UnspecifiedMatching +OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:9341 semapv:UnspecifiedMatching +OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:PRC1 semapv:UnspecifiedMatching +OMIM:603484 PRC1 skos:exactMatch ncbigene:9055 semapv:UnspecifiedMatching +OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:15910 semapv:UnspecifiedMatching +OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:NFS1 semapv:UnspecifiedMatching +OMIM:603485 NFS1 skos:exactMatch ncbigene:9054 semapv:UnspecifiedMatching +OMIM:603486 USP4 skos:exactMatch hgnc.symbol:12627 semapv:UnspecifiedMatching +OMIM:603486 USP4 skos:exactMatch hgnc.symbol:USP4 semapv:UnspecifiedMatching +OMIM:603486 USP4 skos:exactMatch ncbigene:7375 semapv:UnspecifiedMatching +OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:7571 semapv:UnspecifiedMatching +OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:MYH13 semapv:UnspecifiedMatching +OMIM:603487 MYH13 skos:exactMatch ncbigene:8735 semapv:UnspecifiedMatching +OMIM:603488 AAMP skos:exactMatch hgnc.symbol:18 semapv:UnspecifiedMatching +OMIM:603488 AAMP skos:exactMatch hgnc.symbol:AAMP semapv:UnspecifiedMatching +OMIM:603488 AAMP skos:exactMatch ncbigene:14 semapv:UnspecifiedMatching +OMIM:603489 CILP skos:exactMatch hgnc.symbol:1980 semapv:UnspecifiedMatching +OMIM:603489 CILP skos:exactMatch hgnc.symbol:CILP semapv:UnspecifiedMatching +OMIM:603489 CILP skos:exactMatch ncbigene:8483 semapv:UnspecifiedMatching +OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:12783 semapv:UnspecifiedMatching +OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:WNT4 semapv:UnspecifiedMatching +OMIM:603490 WNT4 skos:exactMatch ncbigene:54361 semapv:UnspecifiedMatching +OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:5950 semapv:UnspecifiedMatching +OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:IGSF3 semapv:UnspecifiedMatching +OMIM:603491 IGSF3 skos:exactMatch ncbigene:3321 semapv:UnspecifiedMatching +OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:10903 semapv:UnspecifiedMatching +OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:SLAMF1 semapv:UnspecifiedMatching +OMIM:603492 SLAMF1 skos:exactMatch ncbigene:6504 semapv:UnspecifiedMatching +OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:6280 semapv:UnspecifiedMatching +OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:KCNK5 semapv:UnspecifiedMatching +OMIM:603493 KCNK5 skos:exactMatch ncbigene:8645 semapv:UnspecifiedMatching +OMIM:603494 URI1 skos:exactMatch hgnc.symbol:13236 semapv:UnspecifiedMatching +OMIM:603494 URI1 skos:exactMatch hgnc.symbol:URI1 semapv:UnspecifiedMatching +OMIM:603494 URI1 skos:exactMatch ncbigene:8725 semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch UMLS:C0403812 semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch UMLS:C1420465 semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch hgnc.symbol:11391 semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch hgnc.symbol:AURKC semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch ncbigene:6795 semapv:UnspecifiedMatching +OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:3093 semapv:UnspecifiedMatching +OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:DYRK2 semapv:UnspecifiedMatching +OMIM:603496 DYRK2 skos:exactMatch ncbigene:8445 semapv:UnspecifiedMatching +OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:3094 semapv:UnspecifiedMatching +OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:DYRK3 semapv:UnspecifiedMatching +OMIM:603497 DYRK3 skos:exactMatch ncbigene:8444 semapv:UnspecifiedMatching +OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:11121 semapv:UnspecifiedMatching +OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:SMPD2 semapv:UnspecifiedMatching +OMIM:603498 SMPD2 skos:exactMatch ncbigene:6610 semapv:UnspecifiedMatching +OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:11908 semapv:UnspecifiedMatching +OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:TNFRSF11A semapv:UnspecifiedMatching +OMIM:603499 TNFRSF11A skos:exactMatch ncbigene:8792 semapv:UnspecifiedMatching +OMIM:603500 TRADD skos:exactMatch hgnc.symbol:12030 semapv:UnspecifiedMatching +OMIM:603500 TRADD skos:exactMatch hgnc.symbol:TRADD semapv:UnspecifiedMatching +OMIM:603500 TRADD skos:exactMatch ncbigene:8717 semapv:UnspecifiedMatching +OMIM:603501 PARG skos:exactMatch hgnc.symbol:8605 semapv:UnspecifiedMatching +OMIM:603501 PARG skos:exactMatch hgnc.symbol:PARG semapv:UnspecifiedMatching +OMIM:603501 PARG skos:exactMatch ncbigene:8505 semapv:UnspecifiedMatching +OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:5456 semapv:UnspecifiedMatching +OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:IFRD1 semapv:UnspecifiedMatching +OMIM:603502 IFRD1 skos:exactMatch ncbigene:3475 semapv:UnspecifiedMatching +OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:3005 semapv:UnspecifiedMatching +OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:DPM1 semapv:UnspecifiedMatching +OMIM:603503 DPM1 skos:exactMatch ncbigene:8813 semapv:UnspecifiedMatching +OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:1718 semapv:UnspecifiedMatching +OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:CDC14A semapv:UnspecifiedMatching +OMIM:603504 CDC14A skos:exactMatch ncbigene:8556 semapv:UnspecifiedMatching +OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:1719 semapv:UnspecifiedMatching +OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:CDC14B semapv:UnspecifiedMatching +OMIM:603505 CDC14B skos:exactMatch ncbigene:8555 semapv:UnspecifiedMatching +OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:6697 semapv:UnspecifiedMatching +OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:LRP5 semapv:UnspecifiedMatching +OMIM:603506 LRP5 skos:exactMatch ncbigene:4041 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch UMLS:C1416918 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch UMLS:C1970440 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch UMLS:C4225231 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:6698 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:LRP6 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch ncbigene:4040 semapv:UnspecifiedMatching +OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:7613 semapv:UnspecifiedMatching +OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:MYOM1 semapv:UnspecifiedMatching +OMIM:603508 MYOM1 skos:exactMatch ncbigene:8736 semapv:UnspecifiedMatching +OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:7614 semapv:UnspecifiedMatching +OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:MYOM2 semapv:UnspecifiedMatching +OMIM:603509 MYOM2 skos:exactMatch ncbigene:9172 semapv:UnspecifiedMatching +OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 skos:exactMatch MONDO:0021018 semapv:UnspecifiedMatching +OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:10073 semapv:UnspecifiedMatching +OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:RNGTT semapv:UnspecifiedMatching +OMIM:603512 RNGTT skos:exactMatch ncbigene:8732 semapv:UnspecifiedMatching +OMIM:603514 RNMT skos:exactMatch hgnc.symbol:10075 semapv:UnspecifiedMatching +OMIM:603514 RNMT skos:exactMatch hgnc.symbol:RNMT semapv:UnspecifiedMatching +OMIM:603514 RNMT skos:exactMatch ncbigene:8731 semapv:UnspecifiedMatching +OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:2442 semapv:UnspecifiedMatching +OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:CSHL1 semapv:UnspecifiedMatching +OMIM:603515 CSHL1 skos:exactMatch ncbigene:1444 semapv:UnspecifiedMatching +OMIM:603516 spinocerebellar ataxia 10 skos:exactMatch MONDO:0011330 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C1367449 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C3276200 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4015195 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016841 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016842 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016843 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016844 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016845 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch UMLS:C4016846 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:989 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:BCL10 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch ncbigene:8915 semapv:UnspecifiedMatching +OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:11802 semapv:UnspecifiedMatching +OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:TIA1 semapv:UnspecifiedMatching +OMIM:603518 TIA1 skos:exactMatch ncbigene:7072 semapv:UnspecifiedMatching +OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:16900 semapv:UnspecifiedMatching +OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:SMNDC1 semapv:UnspecifiedMatching +OMIM:603519 SMNDC1 skos:exactMatch ncbigene:10285 semapv:UnspecifiedMatching +OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:11155 semapv:UnspecifiedMatching +OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:SNRPB2 semapv:UnspecifiedMatching +OMIM:603520 SNRPB2 skos:exactMatch ncbigene:6629 semapv:UnspecifiedMatching +OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:11152 semapv:UnspecifiedMatching +OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:SNRPA1 semapv:UnspecifiedMatching +OMIM:603521 SNRPA1 skos:exactMatch ncbigene:6627 semapv:UnspecifiedMatching +OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:11157 semapv:UnspecifiedMatching +OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:SNRPC semapv:UnspecifiedMatching +OMIM:603522 SNRPC skos:exactMatch ncbigene:6631 semapv:UnspecifiedMatching +OMIM:603523 chylothorax, congenital skos:exactMatch MONDO:0011331 semapv:UnspecifiedMatching +OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:1914 semapv:UnspecifiedMatching +OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:RCBTB2 semapv:UnspecifiedMatching +OMIM:603524 RCBTB2 skos:exactMatch ncbigene:1102 semapv:UnspecifiedMatching +OMIM:603525 NMI skos:exactMatch hgnc.symbol:7854 semapv:UnspecifiedMatching +OMIM:603525 NMI skos:exactMatch hgnc.symbol:NMI semapv:UnspecifiedMatching +OMIM:603525 NMI skos:exactMatch ncbigene:9111 semapv:UnspecifiedMatching +OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:7410 semapv:UnspecifiedMatching +OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:MTA1 semapv:UnspecifiedMatching +OMIM:603526 MTA1 skos:exactMatch ncbigene:9112 semapv:UnspecifiedMatching +OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:3003 semapv:UnspecifiedMatching +OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:DPH1 semapv:UnspecifiedMatching +OMIM:603527 DPH1 skos:exactMatch ncbigene:1801 semapv:UnspecifiedMatching +OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch MONDO:0011332 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch UMLS:C1412439 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:559 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:AP1S1 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch ncbigene:1174 semapv:UnspecifiedMatching +OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:555 semapv:UnspecifiedMatching +OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:AP1G1 semapv:UnspecifiedMatching +OMIM:603533 AP1G1 skos:exactMatch ncbigene:164 semapv:UnspecifiedMatching +OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:556 semapv:UnspecifiedMatching +OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:AP1G2 semapv:UnspecifiedMatching +OMIM:603534 AP1G2 skos:exactMatch ncbigene:8906 semapv:UnspecifiedMatching +OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:13667 semapv:UnspecifiedMatching +OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:AP1M1 semapv:UnspecifiedMatching +OMIM:603535 AP1M1 skos:exactMatch ncbigene:8907 semapv:UnspecifiedMatching +OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:4005 semapv:UnspecifiedMatching +OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:FUBP3 semapv:UnspecifiedMatching +OMIM:603536 FUBP3 skos:exactMatch ncbigene:8939 semapv:UnspecifiedMatching +OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:6298 semapv:UnspecifiedMatching +OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:KCNQ4 semapv:UnspecifiedMatching +OMIM:603537 KCNQ4 skos:exactMatch ncbigene:9132 semapv:UnspecifiedMatching +OMIM:603538 KMO skos:exactMatch hgnc.symbol:6381 semapv:UnspecifiedMatching +OMIM:603538 KMO skos:exactMatch hgnc.symbol:KMO semapv:UnspecifiedMatching +OMIM:603538 KMO skos:exactMatch ncbigene:8564 semapv:UnspecifiedMatching +OMIM:603539 CTSF skos:exactMatch hgnc.symbol:2531 semapv:UnspecifiedMatching +OMIM:603539 CTSF skos:exactMatch hgnc.symbol:CTSF semapv:UnspecifiedMatching +OMIM:603539 CTSF skos:exactMatch ncbigene:8722 semapv:UnspecifiedMatching +OMIM:603540 GABBR1 skos:exactMatch UMLS:C1414904 semapv:UnspecifiedMatching +OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:4070 semapv:UnspecifiedMatching +OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:GABBR1 semapv:UnspecifiedMatching +OMIM:603540 GABBR1 skos:exactMatch ncbigene:2550 semapv:UnspecifiedMatching +OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:11162 semapv:UnspecifiedMatching +OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:SNRPF semapv:UnspecifiedMatching +OMIM:603541 SNRPF skos:exactMatch ncbigene:6636 semapv:UnspecifiedMatching +OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:11163 semapv:UnspecifiedMatching +OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:SNRPG semapv:UnspecifiedMatching +OMIM:603542 SNRPG skos:exactMatch ncbigene:6637 semapv:UnspecifiedMatching +OMIM:603543 limb-mammary syndrome skos:exactMatch MONDO:0011334 semapv:UnspecifiedMatching +OMIM:603543 limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching +OMIM:603543 limb-mammary syndrome skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching +OMIM:603544 CCNK skos:exactMatch hgnc.symbol:1596 semapv:UnspecifiedMatching +OMIM:603544 CCNK skos:exactMatch hgnc.symbol:CCNK semapv:UnspecifiedMatching +OMIM:603544 CCNK skos:exactMatch ncbigene:8812 semapv:UnspecifiedMatching +OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, iia 2 skos:exactMatch MONDO:0011335 semapv:UnspecifiedMatching +OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:6917 semapv:UnspecifiedMatching +OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:MBD2 semapv:UnspecifiedMatching +OMIM:603547 MBD2 skos:exactMatch ncbigene:8932 semapv:UnspecifiedMatching +OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:1800 semapv:UnspecifiedMatching +OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:CDS1 semapv:UnspecifiedMatching +OMIM:603548 CDS1 skos:exactMatch ncbigene:1040 semapv:UnspecifiedMatching +OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:1801 semapv:UnspecifiedMatching +OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:CDS2 semapv:UnspecifiedMatching +OMIM:603549 CDS2 skos:exactMatch ncbigene:8760 semapv:UnspecifiedMatching +OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:3522 semapv:UnspecifiedMatching +OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:EYA4 semapv:UnspecifiedMatching +OMIM:603550 EYA4 skos:exactMatch ncbigene:2070 semapv:UnspecifiedMatching +OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:5321 semapv:UnspecifiedMatching +OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:HYAL2 semapv:UnspecifiedMatching +OMIM:603551 HYAL2 skos:exactMatch ncbigene:8692 semapv:UnspecifiedMatching +OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch MONDO:0011336 semapv:UnspecifiedMatching +OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch UMLS:C1863728 semapv:UnspecifiedMatching +OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch MONDO:0011337 semapv:UnspecifiedMatching +OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch UMLS:C1863727 semapv:UnspecifiedMatching +OMIM:603554 omenn syndrome skos:exactMatch MONDO:0011338 semapv:UnspecifiedMatching +OMIM:603554 omenn syndrome skos:exactMatch Orphanet:39041 semapv:UnspecifiedMatching +OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching +OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2931884 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch UMLS:C1420523 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:11467 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:SUPT4H1 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch ncbigene:6827 semapv:UnspecifiedMatching +OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:7450 semapv:UnspecifiedMatching +OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:MTMR2 semapv:UnspecifiedMatching +OMIM:603557 MTMR2 skos:exactMatch ncbigene:8898 semapv:UnspecifiedMatching +OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:7451 semapv:UnspecifiedMatching +OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:MTMR3 semapv:UnspecifiedMatching +OMIM:603558 MTMR3 skos:exactMatch ncbigene:8897 semapv:UnspecifiedMatching +OMIM:603559 MTMR4 skos:exactMatch hgnc.symbol:7452 semapv:UnspecifiedMatching +OMIM:603559 MTMR4 skos:exactMatch hgnc.symbol:MTMR4 semapv:UnspecifiedMatching +OMIM:603559 MTMR4 skos:exactMatch ncbigene:9110 semapv:UnspecifiedMatching +OMIM:603560 SBF1 skos:exactMatch hgnc.symbol:10542 semapv:UnspecifiedMatching +OMIM:603560 SBF1 skos:exactMatch hgnc.symbol:SBF1 semapv:UnspecifiedMatching +OMIM:603560 SBF1 skos:exactMatch ncbigene:6305 semapv:UnspecifiedMatching +OMIM:603561 MTMR6 skos:exactMatch hgnc.symbol:7453 semapv:UnspecifiedMatching +OMIM:603561 MTMR6 skos:exactMatch hgnc.symbol:MTMR6 semapv:UnspecifiedMatching +OMIM:603561 MTMR6 skos:exactMatch ncbigene:9107 semapv:UnspecifiedMatching +OMIM:603562 MTMR7 skos:exactMatch hgnc.symbol:7454 semapv:UnspecifiedMatching +OMIM:603562 MTMR7 skos:exactMatch hgnc.symbol:MTMR7 semapv:UnspecifiedMatching +OMIM:603562 MTMR7 skos:exactMatch ncbigene:9108 semapv:UnspecifiedMatching +OMIM:603563 spastic paraplegia 8, autosomal dominant skos:exactMatch MONDO:0011339 semapv:UnspecifiedMatching +OMIM:603564 DPM2 skos:exactMatch hgnc.symbol:3006 semapv:UnspecifiedMatching +OMIM:603564 DPM2 skos:exactMatch hgnc.symbol:DPM2 semapv:UnspecifiedMatching +OMIM:603564 DPM2 skos:exactMatch ncbigene:8818 semapv:UnspecifiedMatching +OMIM:603565 GALNT4 skos:exactMatch hgnc.symbol:4126 semapv:UnspecifiedMatching +OMIM:603565 GALNT4 skos:exactMatch hgnc.symbol:GALNT4 semapv:UnspecifiedMatching +OMIM:603565 GALNT4 skos:exactMatch ncbigene:8693 semapv:UnspecifiedMatching +OMIM:603566 PIAS1 skos:exactMatch hgnc.symbol:2752 semapv:UnspecifiedMatching +OMIM:603566 PIAS1 skos:exactMatch hgnc.symbol:PIAS1 semapv:UnspecifiedMatching +OMIM:603566 PIAS1 skos:exactMatch ncbigene:8554 semapv:UnspecifiedMatching +OMIM:603567 PIAS2 skos:exactMatch hgnc.symbol:17311 semapv:UnspecifiedMatching +OMIM:603567 PIAS2 skos:exactMatch hgnc.symbol:PIAS2 semapv:UnspecifiedMatching +OMIM:603567 PIAS2 skos:exactMatch ncbigene:9063 semapv:UnspecifiedMatching +OMIM:603568 RNU73 skos:exactMatch hgnc.symbol:10235 semapv:UnspecifiedMatching +OMIM:603568 RNU73 skos:exactMatch hgnc.symbol:SNORD73A semapv:UnspecifiedMatching +OMIM:603568 RNU73 skos:exactMatch ncbigene:8944 semapv:UnspecifiedMatching +OMIM:603569 tracheobronchial stenosis, congenital skos:exactMatch MONDO:0011340 semapv:UnspecifiedMatching +OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:12705 semapv:UnspecifiedMatching +OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:VNN1 semapv:UnspecifiedMatching +OMIM:603570 VNN1 skos:exactMatch ncbigene:8876 semapv:UnspecifiedMatching +OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:12706 semapv:UnspecifiedMatching +OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:VNN2 semapv:UnspecifiedMatching +OMIM:603571 VNN2 skos:exactMatch ncbigene:8875 semapv:UnspecifiedMatching +OMIM:603572 microcephaly, facial abnormalities, micromelia, and mental retardation skos:exactMatch MONDO:0011341 semapv:UnspecifiedMatching +OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:6918 semapv:UnspecifiedMatching +OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:MBD3 semapv:UnspecifiedMatching +OMIM:603573 MBD3 skos:exactMatch ncbigene:53615 semapv:UnspecifiedMatching +OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:6919 semapv:UnspecifiedMatching +OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:MBD4 semapv:UnspecifiedMatching +OMIM:603574 MBD4 skos:exactMatch ncbigene:8930 semapv:UnspecifiedMatching +OMIM:603575 NME5 skos:exactMatch UMLS:C1417744 semapv:UnspecifiedMatching +OMIM:603575 NME5 skos:exactMatch hgnc.symbol:7853 semapv:UnspecifiedMatching +OMIM:603575 NME5 skos:exactMatch hgnc.symbol:NME5 semapv:UnspecifiedMatching +OMIM:603575 NME5 skos:exactMatch ncbigene:8382 semapv:UnspecifiedMatching +OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:7146 semapv:UnspecifiedMatching +OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:TRPM1 semapv:UnspecifiedMatching +OMIM:603576 TRPM1 skos:exactMatch ncbigene:4308 semapv:UnspecifiedMatching +OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:7870 semapv:UnspecifiedMatching +OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:NOL4 semapv:UnspecifiedMatching +OMIM:603577 NOL4 skos:exactMatch ncbigene:8715 semapv:UnspecifiedMatching +OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:8524 semapv:UnspecifiedMatching +OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:OVGP1 semapv:UnspecifiedMatching +OMIM:603578 OVGP1 skos:exactMatch ncbigene:5016 semapv:UnspecifiedMatching +OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:11451 semapv:UnspecifiedMatching +OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:RIOK3 semapv:UnspecifiedMatching +OMIM:603579 RIOK3 skos:exactMatch ncbigene:8780 semapv:UnspecifiedMatching +OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:8660 semapv:UnspecifiedMatching +OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:PCDH8 semapv:UnspecifiedMatching +OMIM:603580 PCDH8 skos:exactMatch ncbigene:5100 semapv:UnspecifiedMatching +OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:8661 semapv:UnspecifiedMatching +OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:PCDH9 semapv:UnspecifiedMatching +OMIM:603581 PCDH9 skos:exactMatch ncbigene:5101 semapv:UnspecifiedMatching +OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:11993 semapv:UnspecifiedMatching +OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:TOP3B semapv:UnspecifiedMatching +OMIM:603582 TOP3B skos:exactMatch ncbigene:8940 semapv:UnspecifiedMatching +OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:2901 semapv:UnspecifiedMatching +OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:DLG2 semapv:UnspecifiedMatching +OMIM:603583 DLG2 skos:exactMatch ncbigene:1740 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch UMLS:C1366909 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch hgnc.symbol:6766 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch hgnc.symbol:MADD semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch ncbigene:8567 semapv:UnspecifiedMatching +OMIM:603585 congenital disorder of glycosylation, iia iif skos:exactMatch MONDO:0011342 semapv:UnspecifiedMatching +OMIM:603587 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch MONDO:0011343 semapv:UnspecifiedMatching +OMIM:603588 parotitis, juvenile recurrent skos:exactMatch MONDO:0011344 semapv:UnspecifiedMatching +OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch MONDO:0011345 semapv:UnspecifiedMatching +OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch UMLS:C1970343 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch UMLS:C1416798 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:6511 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:LARGE1 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch ncbigene:9215 semapv:UnspecifiedMatching +OMIM:603591 USP13 skos:exactMatch hgnc.symbol:12611 semapv:UnspecifiedMatching +OMIM:603591 USP13 skos:exactMatch hgnc.symbol:USP13 semapv:UnspecifiedMatching +OMIM:603591 USP13 skos:exactMatch ncbigene:8975 semapv:UnspecifiedMatching +OMIM:603592 xanthinuria, iia 2 skos:exactMatch MONDO:0011346 semapv:UnspecifiedMatching +OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:11065 semapv:UnspecifiedMatching +OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:SLC7A7 semapv:UnspecifiedMatching +OMIM:603593 SLC7A7 skos:exactMatch ncbigene:9056 semapv:UnspecifiedMatching +OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:11934 semapv:UnspecifiedMatching +OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:TNFSF4 semapv:UnspecifiedMatching +OMIM:603594 TNFSF4 skos:exactMatch ncbigene:7292 semapv:UnspecifiedMatching +OMIM:603595 craniosynostosis with ectopia lentis skos:exactMatch MONDO:0011347 semapv:UnspecifiedMatching +OMIM:603596 polydactyly skos:exactMatch MONDO:0021003 semapv:UnspecifiedMatching +OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:19383 semapv:UnspecifiedMatching +OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:SOCS1 semapv:UnspecifiedMatching +OMIM:603597 SOCS1 skos:exactMatch ncbigene:8651 semapv:UnspecifiedMatching +OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:11925 semapv:UnspecifiedMatching +OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:TNFSF10 semapv:UnspecifiedMatching +OMIM:603598 TNFSF10 skos:exactMatch ncbigene:8743 semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch UMLS:C1413357 semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:1876 semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:CFLAR semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch ncbigene:8837 semapv:UnspecifiedMatching +OMIM:603600 osteoma of cranial vault, familial skos:exactMatch MONDO:0011349 semapv:UnspecifiedMatching +OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:8971 semapv:UnspecifiedMatching +OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:PIK3C2A semapv:UnspecifiedMatching +OMIM:603601 PIK3C2A skos:exactMatch ncbigene:5286 semapv:UnspecifiedMatching +OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:9037 semapv:UnspecifiedMatching +OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:PLA2G4C semapv:UnspecifiedMatching +OMIM:603602 PLA2G4C skos:exactMatch ncbigene:8605 semapv:UnspecifiedMatching +OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:9029 semapv:UnspecifiedMatching +OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:PLA2G10 semapv:UnspecifiedMatching +OMIM:603603 PLA2G10 skos:exactMatch ncbigene:8399 semapv:UnspecifiedMatching +OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:9039 semapv:UnspecifiedMatching +OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:PLA2G6 semapv:UnspecifiedMatching +OMIM:603604 PLA2G6 skos:exactMatch ncbigene:8398 semapv:UnspecifiedMatching +OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:10648 semapv:UnspecifiedMatching +OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:AIMP1 semapv:UnspecifiedMatching +OMIM:603605 AIMP1 skos:exactMatch ncbigene:9255 semapv:UnspecifiedMatching +OMIM:603606 RPS6KA4 skos:exactMatch hgnc.symbol:10433 semapv:UnspecifiedMatching +OMIM:603606 RPS6KA4 skos:exactMatch hgnc.symbol:RPS6KA4 semapv:UnspecifiedMatching +OMIM:603606 RPS6KA4 skos:exactMatch ncbigene:8986 semapv:UnspecifiedMatching +OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:10434 semapv:UnspecifiedMatching +OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:RPS6KA5 semapv:UnspecifiedMatching +OMIM:603607 RPS6KA5 skos:exactMatch ncbigene:9252 semapv:UnspecifiedMatching +OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:1549 semapv:UnspecifiedMatching +OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:CBR3 semapv:UnspecifiedMatching +OMIM:603608 CBR3 skos:exactMatch ncbigene:874 semapv:UnspecifiedMatching +OMIM:603609 FPGT skos:exactMatch hgnc.symbol:3825 semapv:UnspecifiedMatching +OMIM:603609 FPGT skos:exactMatch hgnc.symbol:FPGT semapv:UnspecifiedMatching +OMIM:603609 FPGT skos:exactMatch ncbigene:8790 semapv:UnspecifiedMatching +OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:12569 semapv:UnspecifiedMatching +OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:UNC5C semapv:UnspecifiedMatching +OMIM:603610 UNC5C skos:exactMatch ncbigene:8633 semapv:UnspecifiedMatching +OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:11904 semapv:UnspecifiedMatching +OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:TNFRSF10A semapv:UnspecifiedMatching +OMIM:603611 TNFRSF10A skos:exactMatch ncbigene:8797 semapv:UnspecifiedMatching +OMIM:603612 TNFRSF10B skos:exactMatch hgnc.symbol:11905 semapv:UnspecifiedMatching +OMIM:603612 TNFRSF10B skos:exactMatch hgnc.symbol:TNFRSF10B semapv:UnspecifiedMatching +OMIM:603612 TNFRSF10B skos:exactMatch ncbigene:8795 semapv:UnspecifiedMatching +OMIM:603613 TNFRSF10C skos:exactMatch hgnc.symbol:11906 semapv:UnspecifiedMatching +OMIM:603613 TNFRSF10C skos:exactMatch hgnc.symbol:TNFRSF10C semapv:UnspecifiedMatching +OMIM:603613 TNFRSF10C skos:exactMatch ncbigene:8794 semapv:UnspecifiedMatching +OMIM:603614 TNFRSF10D skos:exactMatch hgnc.symbol:11907 semapv:UnspecifiedMatching +OMIM:603614 TNFRSF10D skos:exactMatch hgnc.symbol:TNFRSF10D semapv:UnspecifiedMatching +OMIM:603614 TNFRSF10D skos:exactMatch ncbigene:8793 semapv:UnspecifiedMatching +OMIM:603615 RAD54L skos:exactMatch hgnc.symbol:9826 semapv:UnspecifiedMatching +OMIM:603615 RAD54L skos:exactMatch hgnc.symbol:RAD54L semapv:UnspecifiedMatching +OMIM:603615 RAD54L skos:exactMatch ncbigene:8438 semapv:UnspecifiedMatching +OMIM:603616 RABEP1 skos:exactMatch hgnc.symbol:17677 semapv:UnspecifiedMatching +OMIM:603616 RABEP1 skos:exactMatch hgnc.symbol:RABEP1 semapv:UnspecifiedMatching +OMIM:603616 RABEP1 skos:exactMatch ncbigene:9135 semapv:UnspecifiedMatching +OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:10975 semapv:UnspecifiedMatching +OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:SLC24A1 semapv:UnspecifiedMatching +OMIM:603617 SLC24A1 skos:exactMatch ncbigene:9187 semapv:UnspecifiedMatching +OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:1723 semapv:UnspecifiedMatching +OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:CDC20 semapv:UnspecifiedMatching +OMIM:603618 CDC20 skos:exactMatch ncbigene:991 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch UMLS:C1428414 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:24824 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:FZR1 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch ncbigene:51343 semapv:UnspecifiedMatching +OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:9527 semapv:UnspecifiedMatching +OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:PSIP1 semapv:UnspecifiedMatching +OMIM:603620 PSIP1 skos:exactMatch ncbigene:11168 semapv:UnspecifiedMatching +OMIM:603621 FOXH1 skos:exactMatch hgnc.symbol:3814 semapv:UnspecifiedMatching +OMIM:603621 FOXH1 skos:exactMatch hgnc.symbol:FOXH1 semapv:UnspecifiedMatching +OMIM:603621 FOXH1 skos:exactMatch ncbigene:8928 semapv:UnspecifiedMatching +OMIM:603622 deafness, autosomal dominant 17 skos:exactMatch MONDO:0011350 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch UMLS:C1337037 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch UMLS:C1842237 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:12840 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:YARS1 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch ncbigene:8565 semapv:UnspecifiedMatching +OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:10404 semapv:UnspecifiedMatching +OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:RPS2 semapv:UnspecifiedMatching +OMIM:603624 RPS2 skos:exactMatch ncbigene:6187 semapv:UnspecifiedMatching +OMIM:603625 LY6H skos:exactMatch hgnc.symbol:6728 semapv:UnspecifiedMatching +OMIM:603625 LY6H skos:exactMatch hgnc.symbol:LY6H semapv:UnspecifiedMatching +OMIM:603625 LY6H skos:exactMatch ncbigene:4062 semapv:UnspecifiedMatching +OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:8655 semapv:UnspecifiedMatching +OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:PCDH1 semapv:UnspecifiedMatching +OMIM:603626 PCDH1 skos:exactMatch ncbigene:5097 semapv:UnspecifiedMatching +OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:8716 semapv:UnspecifiedMatching +OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:PCDHGC3 semapv:UnspecifiedMatching +OMIM:603627 PCDHGC3 skos:exactMatch ncbigene:5098 semapv:UnspecifiedMatching +OMIM:603628 MSC skos:exactMatch hgnc.symbol:7321 semapv:UnspecifiedMatching +OMIM:603628 MSC skos:exactMatch hgnc.symbol:MSC semapv:UnspecifiedMatching +OMIM:603628 MSC skos:exactMatch ncbigene:9242 semapv:UnspecifiedMatching +OMIM:603629 deafness, autosomal recessive 21 skos:exactMatch MONDO:0011351 semapv:UnspecifiedMatching +OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:10426 semapv:UnspecifiedMatching +OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:RPS5 semapv:UnspecifiedMatching +OMIM:603630 RPS5 skos:exactMatch ncbigene:6193 semapv:UnspecifiedMatching +OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:10442 semapv:UnspecifiedMatching +OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:RPS9 semapv:UnspecifiedMatching +OMIM:603631 RPS9 skos:exactMatch ncbigene:6203 semapv:UnspecifiedMatching +OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:10383 semapv:UnspecifiedMatching +OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:RPS10 semapv:UnspecifiedMatching +OMIM:603632 RPS10 skos:exactMatch ncbigene:6204 semapv:UnspecifiedMatching +OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:10419 semapv:UnspecifiedMatching +OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:RPS29 semapv:UnspecifiedMatching +OMIM:603633 RPS29 skos:exactMatch ncbigene:6235 semapv:UnspecifiedMatching +OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:10360 semapv:UnspecifiedMatching +OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:RPL5 semapv:UnspecifiedMatching +OMIM:603634 RPL5 skos:exactMatch ncbigene:6125 semapv:UnspecifiedMatching +OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:10144 semapv:UnspecifiedMatching +OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:SNORD21 semapv:UnspecifiedMatching +OMIM:603635 SNORD21 skos:exactMatch ncbigene:6083 semapv:UnspecifiedMatching +OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:10313 semapv:UnspecifiedMatching +OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:RPL21 semapv:UnspecifiedMatching +OMIM:603636 RPL21 skos:exactMatch ncbigene:6144 semapv:UnspecifiedMatching +OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:10329 semapv:UnspecifiedMatching +OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:RPL27A semapv:UnspecifiedMatching +OMIM:603637 RPL27A skos:exactMatch ncbigene:6157 semapv:UnspecifiedMatching +OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:10330 semapv:UnspecifiedMatching +OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:RPL28 semapv:UnspecifiedMatching +OMIM:603638 RPL28 skos:exactMatch ncbigene:6158 semapv:UnspecifiedMatching +OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:195 semapv:UnspecifiedMatching +OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:ADAM17 semapv:UnspecifiedMatching +OMIM:603639 ADAM17 skos:exactMatch ncbigene:6868 semapv:UnspecifiedMatching +OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:197 semapv:UnspecifiedMatching +OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:ADAM19 semapv:UnspecifiedMatching +OMIM:603640 ADAM19 skos:exactMatch ncbigene:8728 semapv:UnspecifiedMatching +OMIM:603641 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch MONDO:0011352 semapv:UnspecifiedMatching +OMIM:603642 atrial septal defect, secundum, with various cardiac and noncardiac defects skos:exactMatch MONDO:0011353 semapv:UnspecifiedMatching +OMIM:603643 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch MONDO:0011354 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch UMLS:C1419872 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:10603 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:SCO1 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch ncbigene:6341 semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch UMLS:C1418468 semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch hgnc.symbol:8849 semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch hgnc.symbol:GATB semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch ncbigene:5188 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch UMLS:C1413632 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch hgnc.symbol:2263 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch hgnc.symbol:COX15 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch ncbigene:1355 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C0266006 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C1412777 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C1864002 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch UMLS:C4016851 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:1020 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:BCS1L semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch ncbigene:617 semapv:UnspecifiedMatching +OMIM:603648 COX11 skos:exactMatch hgnc.symbol:2261 semapv:UnspecifiedMatching +OMIM:603648 COX11 skos:exactMatch hgnc.symbol:COX11 semapv:UnspecifiedMatching +OMIM:603648 COX11 skos:exactMatch ncbigene:1353 semapv:UnspecifiedMatching +OMIM:603649 cone-rod dystrophy 7 skos:exactMatch MONDO:0011355 semapv:UnspecifiedMatching +OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:970 semapv:UnspecifiedMatching +OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:BBS5 semapv:UnspecifiedMatching +OMIM:603650 BBS5 skos:exactMatch ncbigene:129880 semapv:UnspecifiedMatching +OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:12336 semapv:UnspecifiedMatching +OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:TRPC4 semapv:UnspecifiedMatching +OMIM:603651 TRPC4 skos:exactMatch ncbigene:7223 semapv:UnspecifiedMatching +OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:12338 semapv:UnspecifiedMatching +OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:TRPC6 semapv:UnspecifiedMatching +OMIM:603652 TRPC6 skos:exactMatch ncbigene:7225 semapv:UnspecifiedMatching +OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:10928 semapv:UnspecifiedMatching +OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:SLC16A7 semapv:UnspecifiedMatching +OMIM:603654 SLC16A7 skos:exactMatch ncbigene:9194 semapv:UnspecifiedMatching +OMIM:603656 exostosis, dupuytren subungual skos:exactMatch MONDO:0011356 semapv:UnspecifiedMatching +OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:12644 semapv:UnspecifiedMatching +OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:VAMP3 semapv:UnspecifiedMatching +OMIM:603657 VAMP3 skos:exactMatch ncbigene:9341 semapv:UnspecifiedMatching +OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:10440 semapv:UnspecifiedMatching +OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:RPS7 semapv:UnspecifiedMatching +OMIM:603658 RPS7 skos:exactMatch ncbigene:6201 semapv:UnspecifiedMatching +OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:4325 semapv:UnspecifiedMatching +OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:GLP2R semapv:UnspecifiedMatching +OMIM:603659 GLP2R skos:exactMatch ncbigene:9340 semapv:UnspecifiedMatching +OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:10385 semapv:UnspecifiedMatching +OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:RPS12 semapv:UnspecifiedMatching +OMIM:603660 RPS12 skos:exactMatch ncbigene:6206 semapv:UnspecifiedMatching +OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:10307 semapv:UnspecifiedMatching +OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:RPL17 semapv:UnspecifiedMatching +OMIM:603661 RPL17 skos:exactMatch ncbigene:6139 semapv:UnspecifiedMatching +OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:10316 semapv:UnspecifiedMatching +OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:RPL23 semapv:UnspecifiedMatching +OMIM:603662 RPL23 skos:exactMatch ncbigene:9349 semapv:UnspecifiedMatching +OMIM:603665 STC2 skos:exactMatch hgnc.symbol:11374 semapv:UnspecifiedMatching +OMIM:603665 STC2 skos:exactMatch hgnc.symbol:STC2 semapv:UnspecifiedMatching +OMIM:603665 STC2 skos:exactMatch ncbigene:8614 semapv:UnspecifiedMatching +OMIM:603666 STX16 skos:exactMatch hgnc.symbol:11431 semapv:UnspecifiedMatching +OMIM:603666 STX16 skos:exactMatch hgnc.symbol:STX16 semapv:UnspecifiedMatching +OMIM:603666 STX16 skos:exactMatch ncbigene:8675 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch UMLS:C1420153 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:10982 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:SLC25A12 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch ncbigene:8604 semapv:UnspecifiedMatching +OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:10784 semapv:UnspecifiedMatching +OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:SCAF11 semapv:UnspecifiedMatching +OMIM:603668 SCAF11 skos:exactMatch ncbigene:9169 semapv:UnspecifiedMatching +OMIM:603669 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch MONDO:0011357 semapv:UnspecifiedMatching +OMIM:603670 blue nevi, familial multiple skos:exactMatch MONDO:0011358 semapv:UnspecifiedMatching +OMIM:603671 acromelic frontonasal dysostosis skos:exactMatch MONDO:0011359 semapv:UnspecifiedMatching +OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:1536 semapv:UnspecifiedMatching +OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:CBFA2T2 semapv:UnspecifiedMatching +OMIM:603672 CBFA2T2 skos:exactMatch ncbigene:9139 semapv:UnspecifiedMatching +OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:9586 semapv:UnspecifiedMatching +OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:PTCH2 semapv:UnspecifiedMatching +OMIM:603673 PTCH2 skos:exactMatch ncbigene:8643 semapv:UnspecifiedMatching +OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:10389 semapv:UnspecifiedMatching +OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:RPS15A semapv:UnspecifiedMatching +OMIM:603674 RPS15A skos:exactMatch ncbigene:6210 semapv:UnspecifiedMatching +OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:10396 semapv:UnspecifiedMatching +OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:RPS16 semapv:UnspecifiedMatching +OMIM:603675 RPS16 skos:exactMatch ncbigene:6217 semapv:UnspecifiedMatching +OMIM:603678 deafness, autosomal recessive 14 skos:exactMatch MONDO:0011360 semapv:UnspecifiedMatching +OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:12492 semapv:UnspecifiedMatching +OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:UBE2N semapv:UnspecifiedMatching +OMIM:603679 UBE2N skos:exactMatch ncbigene:7334 semapv:UnspecifiedMatching +OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:10561 semapv:UnspecifiedMatching +OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:ATXN8OS semapv:UnspecifiedMatching +OMIM:603680 ATXN8OS skos:exactMatch ncbigene:6315 semapv:UnspecifiedMatching +OMIM:603681 OTOF skos:exactMatch hgnc.symbol:8515 semapv:UnspecifiedMatching +OMIM:603681 OTOF skos:exactMatch hgnc.symbol:OTOF semapv:UnspecifiedMatching +OMIM:603681 OTOF skos:exactMatch ncbigene:9381 semapv:UnspecifiedMatching +OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:10405 semapv:UnspecifiedMatching +OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:RPS20 semapv:UnspecifiedMatching +OMIM:603682 RPS20 skos:exactMatch ncbigene:6224 semapv:UnspecifiedMatching +OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:10410 semapv:UnspecifiedMatching +OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:RPS23 semapv:UnspecifiedMatching +OMIM:603683 RPS23 skos:exactMatch ncbigene:6228 semapv:UnspecifiedMatching +OMIM:603684 LIPG skos:exactMatch hgnc.symbol:6623 semapv:UnspecifiedMatching +OMIM:603684 LIPG skos:exactMatch hgnc.symbol:LIPG semapv:UnspecifiedMatching +OMIM:603684 LIPG skos:exactMatch ncbigene:9388 semapv:UnspecifiedMatching +OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:10418 semapv:UnspecifiedMatching +OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:RPS28 semapv:UnspecifiedMatching +OMIM:603685 RPS28 skos:exactMatch ncbigene:6234 semapv:UnspecifiedMatching +OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:10369 semapv:UnspecifiedMatching +OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:RPL9 semapv:UnspecifiedMatching +OMIM:603686 RPL9 skos:exactMatch ncbigene:6133 semapv:UnspecifiedMatching +OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:15472 semapv:UnspecifiedMatching +OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:ALDH1A2 semapv:UnspecifiedMatching +OMIM:603687 ALDH1A2 skos:exactMatch ncbigene:8854 semapv:UnspecifiedMatching +OMIM:603688 prostate cancer/brain cancer susceptibility skos:exactMatch MONDO:0011361 semapv:UnspecifiedMatching +OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch MONDO:0011362 semapv:UnspecifiedMatching +OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:95 semapv:UnspecifiedMatching +OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:SLC33A1 semapv:UnspecifiedMatching +OMIM:603690 SLC33A1 skos:exactMatch ncbigene:9197 semapv:UnspecifiedMatching +OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:4133 semapv:UnspecifiedMatching +OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:GALR2 semapv:UnspecifiedMatching +OMIM:603691 GALR2 skos:exactMatch ncbigene:8811 semapv:UnspecifiedMatching +OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:4134 semapv:UnspecifiedMatching +OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:GALR3 semapv:UnspecifiedMatching +OMIM:603692 GALR3 skos:exactMatch ncbigene:8484 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1424490 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1857781 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch UMLS:C4015129 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:16700 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:ZFPM2 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch ncbigene:23414 semapv:UnspecifiedMatching +OMIM:603694 iia 2 diabetes mellitus 3 skos:exactMatch MONDO:0011363 semapv:UnspecifiedMatching +OMIM:603694 iia 2 diabetes mellitus 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching +OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:4686 semapv:UnspecifiedMatching +OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:GUCY1B2 semapv:UnspecifiedMatching +OMIM:603695 GUCY1B2 skos:exactMatch ncbigene:2974 semapv:UnspecifiedMatching +OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:9165 semapv:UnspecifiedMatching +OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:SEPTIN4 semapv:UnspecifiedMatching +OMIM:603696 SEPT4 skos:exactMatch ncbigene:5414 semapv:UnspecifiedMatching +OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:434 semapv:UnspecifiedMatching +OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:ALOX15B semapv:UnspecifiedMatching +OMIM:603697 ALOX15B skos:exactMatch ncbigene:247 semapv:UnspecifiedMatching +OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:4181 semapv:UnspecifiedMatching +OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:GBF1 semapv:UnspecifiedMatching +OMIM:603698 GBF1 skos:exactMatch ncbigene:8729 semapv:UnspecifiedMatching +OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:12776 semapv:UnspecifiedMatching +OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:WNT11 semapv:UnspecifiedMatching +OMIM:603699 WNT11 skos:exactMatch ncbigene:7481 semapv:UnspecifiedMatching +OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:436 semapv:UnspecifiedMatching +OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:ALOX5AP semapv:UnspecifiedMatching +OMIM:603700 ALOX5AP skos:exactMatch ncbigene:241 semapv:UnspecifiedMatching +OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:10414 semapv:UnspecifiedMatching +OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:RPS26 semapv:UnspecifiedMatching +OMIM:603701 RPS26 skos:exactMatch ncbigene:6231 semapv:UnspecifiedMatching +OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:10416 semapv:UnspecifiedMatching +OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:RPS27 semapv:UnspecifiedMatching +OMIM:603702 RPS27 skos:exactMatch ncbigene:6232 semapv:UnspecifiedMatching +OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:10362 semapv:UnspecifiedMatching +OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:RPL6 semapv:UnspecifiedMatching +OMIM:603703 RPL6 skos:exactMatch ncbigene:6128 semapv:UnspecifiedMatching +OMIM:603704 RPL26 skos:exactMatch hgnc.symbol:10327 semapv:UnspecifiedMatching +OMIM:603704 RPL26 skos:exactMatch hgnc.symbol:RPL26 semapv:UnspecifiedMatching +OMIM:603704 RPL26 skos:exactMatch ncbigene:6154 semapv:UnspecifiedMatching +OMIM:603705 ANGPT4 skos:exactMatch hgnc.symbol:487 semapv:UnspecifiedMatching +OMIM:603705 ANGPT4 skos:exactMatch hgnc.symbol:ANGPT4 semapv:UnspecifiedMatching +OMIM:603705 ANGPT4 skos:exactMatch ncbigene:51378 semapv:UnspecifiedMatching +OMIM:603706 SEMA4F skos:exactMatch UMLS:C1419952 semapv:UnspecifiedMatching +OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:10734 semapv:UnspecifiedMatching +OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:SEMA4F semapv:UnspecifiedMatching +OMIM:603706 SEMA4F skos:exactMatch ncbigene:10505 semapv:UnspecifiedMatching +OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:7190 semapv:UnspecifiedMatching +OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:MOCS1 semapv:UnspecifiedMatching +OMIM:603707 MOCS1 skos:exactMatch ncbigene:4337 semapv:UnspecifiedMatching +OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:7193 semapv:UnspecifiedMatching +OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:MOCS2 semapv:UnspecifiedMatching +OMIM:603708 MOCS2 skos:exactMatch ncbigene:4338 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch UMLS:C1412192 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:201 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:ADAM22 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch ncbigene:53616 semapv:UnspecifiedMatching +OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:202 semapv:UnspecifiedMatching +OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:ADAM23 semapv:UnspecifiedMatching +OMIM:603710 ADAM23 skos:exactMatch ncbigene:8745 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1413894 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch UMLS:C3151147 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch hgnc.symbol:2652 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch hgnc.symbol:CYP7B1 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch ncbigene:9420 semapv:UnspecifiedMatching +OMIM:603712 ADAM20 skos:exactMatch hgnc.symbol:199 semapv:UnspecifiedMatching +OMIM:603712 ADAM20 skos:exactMatch hgnc.symbol:ADAM20 semapv:UnspecifiedMatching +OMIM:603712 ADAM20 skos:exactMatch ncbigene:8748 semapv:UnspecifiedMatching +OMIM:603713 ADAM21 skos:exactMatch hgnc.symbol:200 semapv:UnspecifiedMatching +OMIM:603713 ADAM21 skos:exactMatch hgnc.symbol:ADAM21 semapv:UnspecifiedMatching +OMIM:603713 ADAM21 skos:exactMatch ncbigene:8747 semapv:UnspecifiedMatching +OMIM:603714 SIX3 skos:exactMatch hgnc.symbol:10889 semapv:UnspecifiedMatching +OMIM:603714 SIX3 skos:exactMatch hgnc.symbol:SIX3 semapv:UnspecifiedMatching +OMIM:603714 SIX3 skos:exactMatch ncbigene:6496 semapv:UnspecifiedMatching +OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:4197 semapv:UnspecifiedMatching +OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:GCM1 semapv:UnspecifiedMatching +OMIM:603715 GCM1 skos:exactMatch ncbigene:8521 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch UMLS:C1415017 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch UMLS:C4479229 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:4198 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:GCM2 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch ncbigene:9247 semapv:UnspecifiedMatching +OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:861 semapv:UnspecifiedMatching +OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:ATP6V0B semapv:UnspecifiedMatching +OMIM:603717 ATP6V0B skos:exactMatch ncbigene:533 semapv:UnspecifiedMatching +OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:2032 semapv:UnspecifiedMatching +OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:CLDN1 semapv:UnspecifiedMatching +OMIM:603718 CLDN1 skos:exactMatch ncbigene:9076 semapv:UnspecifiedMatching +OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:1151 semapv:UnspecifiedMatching +OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:BUB3 semapv:UnspecifiedMatching +OMIM:603719 BUB3 skos:exactMatch ncbigene:9184 semapv:UnspecifiedMatching +OMIM:603720 deafness, autosomal recessive 16 skos:exactMatch MONDO:0011364 semapv:UnspecifiedMatching +OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:12488 semapv:UnspecifiedMatching +OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:UBE2L3 semapv:UnspecifiedMatching +OMIM:603721 UBE2L3 skos:exactMatch ncbigene:7332 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch UMLS:C1416379 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:5959 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:ELP1 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch ncbigene:8518 semapv:UnspecifiedMatching +OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:3673 semapv:UnspecifiedMatching +OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:FGF17 semapv:UnspecifiedMatching +OMIM:603725 FGF17 skos:exactMatch ncbigene:8822 semapv:UnspecifiedMatching +OMIM:603726 FGF18 skos:exactMatch hgnc.symbol:3674 semapv:UnspecifiedMatching +OMIM:603726 FGF18 skos:exactMatch hgnc.symbol:FGF18 semapv:UnspecifiedMatching +OMIM:603726 FGF18 skos:exactMatch ncbigene:8817 semapv:UnspecifiedMatching +OMIM:603727 QARS1 skos:exactMatch hgnc.symbol:9751 semapv:UnspecifiedMatching +OMIM:603727 QARS1 skos:exactMatch hgnc.symbol:QARS1 semapv:UnspecifiedMatching +OMIM:603727 QARS1 skos:exactMatch ncbigene:5859 semapv:UnspecifiedMatching +OMIM:603728 NUMB skos:exactMatch UMLS:C1417890 semapv:UnspecifiedMatching +OMIM:603728 NUMB skos:exactMatch hgnc.symbol:8060 semapv:UnspecifiedMatching +OMIM:603728 NUMB skos:exactMatch hgnc.symbol:NUMB semapv:UnspecifiedMatching +OMIM:603728 NUMB skos:exactMatch ncbigene:8650 semapv:UnspecifiedMatching +OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:10817 semapv:UnspecifiedMatching +OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:SGPL1 semapv:UnspecifiedMatching +OMIM:603729 SGPL1 skos:exactMatch ncbigene:8879 semapv:UnspecifiedMatching +OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:11240 semapv:UnspecifiedMatching +OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:SPHK1 semapv:UnspecifiedMatching +OMIM:603730 SPHK1 skos:exactMatch ncbigene:8877 semapv:UnspecifiedMatching +OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:9207 semapv:UnspecifiedMatching +OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:CNOT8 semapv:UnspecifiedMatching +OMIM:603731 CNOT8 skos:exactMatch ncbigene:9337 semapv:UnspecifiedMatching +OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:2385 semapv:UnspecifiedMatching +OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:CRY2 semapv:UnspecifiedMatching +OMIM:603732 CRY2 skos:exactMatch ncbigene:1408 semapv:UnspecifiedMatching +OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:9225 semapv:UnspecifiedMatching +OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:SLC43A1 semapv:UnspecifiedMatching +OMIM:603733 SLC43A1 skos:exactMatch ncbigene:8501 semapv:UnspecifiedMatching +OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:6118 semapv:UnspecifiedMatching +OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:IRF3 semapv:UnspecifiedMatching +OMIM:603734 IRF3 skos:exactMatch ncbigene:3661 semapv:UnspecifiedMatching +OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:550 semapv:UnspecifiedMatching +OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:AOC3 semapv:UnspecifiedMatching +OMIM:603735 AOC3 skos:exactMatch ncbigene:8639 semapv:UnspecifiedMatching +OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch MONDO:0011365 semapv:UnspecifiedMatching +OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch Orphanet:3047 semapv:UnspecifiedMatching +OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching +OMIM:603737 ovarian germ cell cancer skos:exactMatch MONDO:0011366 semapv:UnspecifiedMatching +OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:1127 semapv:UnspecifiedMatching +OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:BTF3P12 semapv:UnspecifiedMatching +OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:1128 semapv:UnspecifiedMatching +OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:BTF3P13 semapv:UnspecifiedMatching +OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch MONDO:0011367 semapv:UnspecifiedMatching +OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch UMLS:C1863556 semapv:UnspecifiedMatching +OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:430 semapv:UnspecifiedMatching +OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:ALOX12B semapv:UnspecifiedMatching +OMIM:603741 ALOX12B skos:exactMatch ncbigene:242 semapv:UnspecifiedMatching +OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:11085 semapv:UnspecifiedMatching +OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:SLIT1 semapv:UnspecifiedMatching +OMIM:603742 SLIT1 skos:exactMatch ncbigene:6585 semapv:UnspecifiedMatching +OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:618 semapv:UnspecifiedMatching +OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:APOL1 semapv:UnspecifiedMatching +OMIM:603743 APOL1 skos:exactMatch ncbigene:8542 semapv:UnspecifiedMatching +OMIM:603744 papillary thyroid microcarcinoma skos:exactMatch MONDO:0011368 semapv:UnspecifiedMatching +OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:11087 semapv:UnspecifiedMatching +OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:SLIT3 semapv:UnspecifiedMatching +OMIM:603745 SLIT3 skos:exactMatch ncbigene:6586 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch UMLS:C1420244 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:11086 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:SLIT2 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch ncbigene:9353 semapv:UnspecifiedMatching +OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:12007 semapv:UnspecifiedMatching +OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:TPD52L2 semapv:UnspecifiedMatching +OMIM:603747 TPD52L2 skos:exactMatch ncbigene:7165 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch UMLS:C1421174 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:12339 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:TRPM2 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch ncbigene:7226 semapv:UnspecifiedMatching +OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:642 semapv:UnspecifiedMatching +OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:AQP8 semapv:UnspecifiedMatching +OMIM:603750 AQP8 skos:exactMatch ncbigene:343 semapv:UnspecifiedMatching +OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:3170 semapv:UnspecifiedMatching +OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:S1PR4 semapv:UnspecifiedMatching +OMIM:603751 S1PR4 skos:exactMatch ncbigene:8698 semapv:UnspecifiedMatching +OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:11062 semapv:UnspecifiedMatching +OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:SLC7A4 semapv:UnspecifiedMatching +OMIM:603752 SLC7A4 skos:exactMatch ncbigene:6545 semapv:UnspecifiedMatching +OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:12499 semapv:UnspecifiedMatching +OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:UBE4A semapv:UnspecifiedMatching +OMIM:603753 UBE4A skos:exactMatch ncbigene:9354 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch UMLS:C1416635 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:6320 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:KIF3B semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch ncbigene:9371 semapv:UnspecifiedMatching +OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:6775 semapv:UnspecifiedMatching +OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:ZFYVE9 semapv:UnspecifiedMatching +OMIM:603755 ZFYVE9 skos:exactMatch ncbigene:9372 semapv:UnspecifiedMatching +OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:74 semapv:UnspecifiedMatching +OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:ABCG2 semapv:UnspecifiedMatching +OMIM:603756 ABCG2 skos:exactMatch ncbigene:9429 semapv:UnspecifiedMatching +OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:10616 semapv:UnspecifiedMatching +OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:CCL18 semapv:UnspecifiedMatching +OMIM:603757 CCL18 skos:exactMatch ncbigene:6362 semapv:UnspecifiedMatching +OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:4643 semapv:UnspecifiedMatching +OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:GSTZ1 semapv:UnspecifiedMatching +OMIM:603758 GSTZ1 skos:exactMatch ncbigene:2954 semapv:UnspecifiedMatching +OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:6594 semapv:UnspecifiedMatching +OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:LHX2 semapv:UnspecifiedMatching +OMIM:603759 LHX2 skos:exactMatch ncbigene:9355 semapv:UnspecifiedMatching +OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:5309 semapv:UnspecifiedMatching +OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:HUS1 semapv:UnspecifiedMatching +OMIM:603760 HUS1 skos:exactMatch ncbigene:3364 semapv:UnspecifiedMatching +OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:9827 semapv:UnspecifiedMatching +OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:RAD9A semapv:UnspecifiedMatching +OMIM:603761 RAD9A skos:exactMatch ncbigene:5883 semapv:UnspecifiedMatching +OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:9467 semapv:UnspecifiedMatching +OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:PRPSAP2 semapv:UnspecifiedMatching +OMIM:603762 PRPSAP2 skos:exactMatch ncbigene:5636 semapv:UnspecifiedMatching +OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:6389 semapv:UnspecifiedMatching +OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:KIFC1 semapv:UnspecifiedMatching +OMIM:603763 KIFC1 skos:exactMatch ncbigene:3833 semapv:UnspecifiedMatching +OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:1776 semapv:UnspecifiedMatching +OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:CDK5R2 semapv:UnspecifiedMatching +OMIM:603764 CDK5R2 skos:exactMatch ncbigene:8941 semapv:UnspecifiedMatching +OMIM:603765 STX10 skos:exactMatch hgnc.symbol:11428 semapv:UnspecifiedMatching +OMIM:603765 STX10 skos:exactMatch hgnc.symbol:STX10 semapv:UnspecifiedMatching +OMIM:603765 STX10 skos:exactMatch ncbigene:8677 semapv:UnspecifiedMatching +OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:7441 semapv:UnspecifiedMatching +OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:MTIF2 semapv:UnspecifiedMatching +OMIM:603766 MTIF2 skos:exactMatch ncbigene:4528 semapv:UnspecifiedMatching +OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:6365 semapv:UnspecifiedMatching +OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:KLK4 semapv:UnspecifiedMatching +OMIM:603767 KLK4 skos:exactMatch ncbigene:9622 semapv:UnspecifiedMatching +OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:7619 semapv:UnspecifiedMatching +OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:PPP1R12B semapv:UnspecifiedMatching +OMIM:603768 PPP1R12B skos:exactMatch ncbigene:4660 semapv:UnspecifiedMatching +OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:11649 semapv:UnspecifiedMatching +OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:TCL1B semapv:UnspecifiedMatching +OMIM:603769 TCL1B skos:exactMatch ncbigene:9623 semapv:UnspecifiedMatching +OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:9276 semapv:UnspecifiedMatching +OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:PPM1B semapv:UnspecifiedMatching +OMIM:603770 PPM1B skos:exactMatch ncbigene:5495 semapv:UnspecifiedMatching +OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:9284 semapv:UnspecifiedMatching +OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:PPP1R10 semapv:UnspecifiedMatching +OMIM:603771 PPP1R10 skos:exactMatch ncbigene:5514 semapv:UnspecifiedMatching +OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:2963 semapv:UnspecifiedMatching +OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:DYNC1I1 semapv:UnspecifiedMatching +OMIM:603772 DYNC1I1 skos:exactMatch ncbigene:1780 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch UMLS:C1413636 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch hgnc.symbol:2267 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch hgnc.symbol:COX5A semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch ncbigene:9377 semapv:UnspecifiedMatching +OMIM:603774 COX7C skos:exactMatch hgnc.symbol:2292 semapv:UnspecifiedMatching +OMIM:603774 COX7C skos:exactMatch hgnc.symbol:COX7C semapv:UnspecifiedMatching +OMIM:603774 COX7C skos:exactMatch ncbigene:1350 semapv:UnspecifiedMatching +OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:1590 semapv:UnspecifiedMatching +OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:CCNE2 semapv:UnspecifiedMatching +OMIM:603775 CCNE2 skos:exactMatch ncbigene:9134 semapv:UnspecifiedMatching +OMIM:603776 hypercholesterolemia, familial, 3 skos:exactMatch MONDO:0011369 semapv:UnspecifiedMatching +OMIM:603777 CER1 skos:exactMatch hgnc.symbol:1862 semapv:UnspecifiedMatching +OMIM:603777 CER1 skos:exactMatch hgnc.symbol:CER1 semapv:UnspecifiedMatching +OMIM:603777 CER1 skos:exactMatch ncbigene:9350 semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch UMLS:C1413305 semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch hgnc.symbol:1811 semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch hgnc.symbol:CDYL semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch ncbigene:9425 semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch UMLS:C1420277 semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:11139 semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:SNCAIP semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch ncbigene:9627 semapv:UnspecifiedMatching +OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:9949 semapv:UnspecifiedMatching +OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:RECQL4 semapv:UnspecifiedMatching +OMIM:603780 RECQL4 skos:exactMatch ncbigene:9401 semapv:UnspecifiedMatching +OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:9950 semapv:UnspecifiedMatching +OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:RECQL5 semapv:UnspecifiedMatching +OMIM:603781 RECQL5 skos:exactMatch ncbigene:9400 semapv:UnspecifiedMatching +OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:10631 semapv:UnspecifiedMatching +OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:CCL4L1 semapv:UnspecifiedMatching +OMIM:603782 CCL4L1 skos:exactMatch ncbigene:388372 semapv:UnspecifiedMatching +OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:13524 semapv:UnspecifiedMatching +OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:PTTG1IP semapv:UnspecifiedMatching +OMIM:603784 PTTG1IP skos:exactMatch ncbigene:754 semapv:UnspecifiedMatching +OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:7208 semapv:UnspecifiedMatching +OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:MPDZ semapv:UnspecifiedMatching +OMIM:603785 MPDZ skos:exactMatch ncbigene:8777 semapv:UnspecifiedMatching +OMIM:603786 stargardt disease 4 skos:exactMatch MONDO:0011370 semapv:UnspecifiedMatching +OMIM:603786 stargardt disease 4 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching +OMIM:603786 stargardt disease 4 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching +OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:6246 semapv:UnspecifiedMatching +OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:KCNF1 semapv:UnspecifiedMatching +OMIM:603787 KCNF1 skos:exactMatch ncbigene:3754 semapv:UnspecifiedMatching +OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:6248 semapv:UnspecifiedMatching +OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:KCNG1 semapv:UnspecifiedMatching +OMIM:603788 KCNG1 skos:exactMatch ncbigene:3755 semapv:UnspecifiedMatching +OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:10974 semapv:UnspecifiedMatching +OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:SLC23A1 semapv:UnspecifiedMatching +OMIM:603790 SLC23A1 skos:exactMatch ncbigene:9963 semapv:UnspecifiedMatching +OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:10973 semapv:UnspecifiedMatching +OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:SLC23A2 semapv:UnspecifiedMatching +OMIM:603791 SLC23A2 skos:exactMatch ncbigene:9962 semapv:UnspecifiedMatching +OMIM:603794 hydroa vacciniforme, familial skos:exactMatch MONDO:0011371 semapv:UnspecifiedMatching +OMIM:603794 hydroa vacciniforme, familial skos:exactMatch UMLS:C1863533 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch UMLS:C1424587 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch hgnc.symbol:16841 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch hgnc.symbol:LITAF semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch ncbigene:9516 semapv:UnspecifiedMatching +OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:6242 semapv:UnspecifiedMatching +OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:KCNE2 semapv:UnspecifiedMatching +OMIM:603796 KCNE2 skos:exactMatch ncbigene:9992 semapv:UnspecifiedMatching +OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:1969 semapv:UnspecifiedMatching +OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:CHST1 semapv:UnspecifiedMatching +OMIM:603797 CHST1 skos:exactMatch ncbigene:8534 semapv:UnspecifiedMatching +OMIM:603798 CHST2 skos:exactMatch UMLS:C1413415 semapv:UnspecifiedMatching +OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:1970 semapv:UnspecifiedMatching +OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:CHST2 semapv:UnspecifiedMatching +OMIM:603798 CHST2 skos:exactMatch ncbigene:9435 semapv:UnspecifiedMatching +OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:1971 semapv:UnspecifiedMatching +OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:CHST3 semapv:UnspecifiedMatching +OMIM:603799 CHST3 skos:exactMatch ncbigene:9469 semapv:UnspecifiedMatching +OMIM:603800 MED21 skos:exactMatch hgnc.symbol:11473 semapv:UnspecifiedMatching +OMIM:603800 MED21 skos:exactMatch hgnc.symbol:MED21 semapv:UnspecifiedMatching +OMIM:603800 MED21 skos:exactMatch ncbigene:9412 semapv:UnspecifiedMatching +OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:7858 semapv:UnspecifiedMatching +OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:NMT2 semapv:UnspecifiedMatching +OMIM:603801 NMT2 skos:exactMatch ncbigene:9397 semapv:UnspecifiedMatching +OMIM:603802 microcephaly with simplified gyral pattern skos:exactMatch MONDO:0011372 semapv:UnspecifiedMatching +OMIM:603803 DACH1 skos:exactMatch UMLS:C1413899 semapv:UnspecifiedMatching +OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:2663 semapv:UnspecifiedMatching +OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:DACH1 semapv:UnspecifiedMatching +OMIM:603803 DACH1 skos:exactMatch ncbigene:1602 semapv:UnspecifiedMatching +OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:7761 semapv:UnspecifiedMatching +OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:NEURL1 semapv:UnspecifiedMatching +OMIM:603804 NEURL1 skos:exactMatch ncbigene:9148 semapv:UnspecifiedMatching +OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:11781 semapv:UnspecifiedMatching +OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:TGM5 semapv:UnspecifiedMatching +OMIM:603805 TGM5 skos:exactMatch ncbigene:9333 semapv:UnspecifiedMatching +OMIM:603806 urinary tract infections, recurrent, susceptibility to skos:exactMatch MONDO:0011373 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch UMLS:C1427770 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch hgnc.symbol:22474 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch hgnc.symbol:MED13 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch ncbigene:9969 semapv:UnspecifiedMatching +OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:22964 semapv:UnspecifiedMatching +OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:THRAP3 semapv:UnspecifiedMatching +OMIM:603809 THRAP3 skos:exactMatch ncbigene:9967 semapv:UnspecifiedMatching +OMIM:603810 MED17 skos:exactMatch hgnc.symbol:2375 semapv:UnspecifiedMatching +OMIM:603810 MED17 skos:exactMatch hgnc.symbol:MED17 semapv:UnspecifiedMatching +OMIM:603810 MED17 skos:exactMatch ncbigene:9440 semapv:UnspecifiedMatching +OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:17397 semapv:UnspecifiedMatching +OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:BANF1 semapv:UnspecifiedMatching +OMIM:603811 BANF1 skos:exactMatch ncbigene:8815 semapv:UnspecifiedMatching +OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:20224 semapv:UnspecifiedMatching +OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:DCAF5 semapv:UnspecifiedMatching +OMIM:603812 DCAF5 skos:exactMatch ncbigene:8816 semapv:UnspecifiedMatching +OMIM:603813 hypercholesterolemia, familial, 4 skos:exactMatch MONDO:0011374 semapv:UnspecifiedMatching +OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:9928 semapv:UnspecifiedMatching +OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:RBX1 semapv:UnspecifiedMatching +OMIM:603814 RBX1 skos:exactMatch ncbigene:9978 semapv:UnspecifiedMatching +OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:6390 semapv:UnspecifiedMatching +OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:KIF25 semapv:UnspecifiedMatching +OMIM:603815 KIF25 skos:exactMatch ncbigene:3834 semapv:UnspecifiedMatching +OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:903 semapv:UnspecifiedMatching +OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:AXIN1 semapv:UnspecifiedMatching +OMIM:603816 AXIN1 skos:exactMatch ncbigene:8312 semapv:UnspecifiedMatching +OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:2721 semapv:UnspecifiedMatching +OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:ASAP2 semapv:UnspecifiedMatching +OMIM:603817 DDEF2 skos:exactMatch ncbigene:8853 semapv:UnspecifiedMatching +OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:7998 semapv:UnspecifiedMatching +OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:NRG2 semapv:UnspecifiedMatching +OMIM:603818 NRG2 skos:exactMatch ncbigene:9542 semapv:UnspecifiedMatching +OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:11281 semapv:UnspecifiedMatching +OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:SRA1 semapv:UnspecifiedMatching +OMIM:603819 SRA1 skos:exactMatch ncbigene:10011 semapv:UnspecifiedMatching +OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:4498 semapv:UnspecifiedMatching +OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:FFAR1 semapv:UnspecifiedMatching +OMIM:603820 FFAR1 skos:exactMatch ncbigene:2864 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch UMLS:C1825294 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:4499 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:FFAR3 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch ncbigene:2865 semapv:UnspecifiedMatching +OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:4500 semapv:UnspecifiedMatching +OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:GPR42 semapv:UnspecifiedMatching +OMIM:603822 GPR42 skos:exactMatch ncbigene:2866 semapv:UnspecifiedMatching +OMIM:603823 FFAR2 skos:exactMatch UMLS:C1825293 semapv:UnspecifiedMatching +OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:4501 semapv:UnspecifiedMatching +OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:FFAR2 semapv:UnspecifiedMatching +OMIM:603823 FFAR2 skos:exactMatch ncbigene:2867 semapv:UnspecifiedMatching +OMIM:603824 GNE skos:exactMatch hgnc.symbol:23657 semapv:UnspecifiedMatching +OMIM:603824 GNE skos:exactMatch hgnc.symbol:GNE semapv:UnspecifiedMatching +OMIM:603824 GNE skos:exactMatch ncbigene:10020 semapv:UnspecifiedMatching +OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:4909 semapv:UnspecifiedMatching +OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:HIC1 semapv:UnspecifiedMatching +OMIM:603825 HIC1 skos:exactMatch ncbigene:3090 semapv:UnspecifiedMatching +OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:7967 semapv:UnspecifiedMatching +OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:NR1H4 semapv:UnspecifiedMatching +OMIM:603826 NR1H4 skos:exactMatch ncbigene:9971 semapv:UnspecifiedMatching +OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:994 semapv:UnspecifiedMatching +OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:BCL2L11 semapv:UnspecifiedMatching +OMIM:603827 BCL2L11 skos:exactMatch ncbigene:10018 semapv:UnspecifiedMatching +OMIM:603828 brittle bone disorder skos:exactMatch MONDO:0011375 semapv:UnspecifiedMatching +OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 skos:exactMatch MONDO:0011376 semapv:UnspecifiedMatching +OMIM:603830 long qt syndrome 3 skos:exactMatch MONDO:0011377 semapv:UnspecifiedMatching +OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:8821 semapv:UnspecifiedMatching +OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:PDZK1 semapv:UnspecifiedMatching +OMIM:603831 PDZK1 skos:exactMatch ncbigene:5174 semapv:UnspecifiedMatching +OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:7686 semapv:UnspecifiedMatching +OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:NDUFA3 semapv:UnspecifiedMatching +OMIM:603832 NDUFA3 skos:exactMatch ncbigene:4696 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch UMLS:C1417624 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:7687 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:NDUFA4 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch ncbigene:4697 semapv:UnspecifiedMatching +OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:7693 semapv:UnspecifiedMatching +OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:NDUFA9 semapv:UnspecifiedMatching +OMIM:603834 NDUFA9 skos:exactMatch ncbigene:4704 semapv:UnspecifiedMatching +OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:7684 semapv:UnspecifiedMatching +OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:NDUFA10 semapv:UnspecifiedMatching +OMIM:603835 NDUFA10 skos:exactMatch ncbigene:4705 semapv:UnspecifiedMatching +OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:7694 semapv:UnspecifiedMatching +OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:NDUFAB1 semapv:UnspecifiedMatching +OMIM:603836 NDUFAB1 skos:exactMatch ncbigene:4706 semapv:UnspecifiedMatching +OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:7695 semapv:UnspecifiedMatching +OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:NDUFB1 semapv:UnspecifiedMatching +OMIM:603837 NDUFB1 skos:exactMatch ncbigene:4707 semapv:UnspecifiedMatching +OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:7697 semapv:UnspecifiedMatching +OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:NDUFB2 semapv:UnspecifiedMatching +OMIM:603838 NDUFB2 skos:exactMatch ncbigene:4708 semapv:UnspecifiedMatching +OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:7698 semapv:UnspecifiedMatching +OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:NDUFB3 semapv:UnspecifiedMatching +OMIM:603839 NDUFB3 skos:exactMatch ncbigene:4709 semapv:UnspecifiedMatching +OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:7699 semapv:UnspecifiedMatching +OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:NDUFB4 semapv:UnspecifiedMatching +OMIM:603840 NDUFB4 skos:exactMatch ncbigene:4710 semapv:UnspecifiedMatching +OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:7700 semapv:UnspecifiedMatching +OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:NDUFB5 semapv:UnspecifiedMatching +OMIM:603841 NDUFB5 skos:exactMatch ncbigene:4711 semapv:UnspecifiedMatching +OMIM:603842 NDUFB7 skos:exactMatch hgnc.symbol:7702 semapv:UnspecifiedMatching +OMIM:603842 NDUFB7 skos:exactMatch hgnc.symbol:NDUFB7 semapv:UnspecifiedMatching +OMIM:603842 NDUFB7 skos:exactMatch ncbigene:4713 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch UMLS:C1417633 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch hgnc.symbol:7696 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch hgnc.symbol:NDUFB10 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch ncbigene:4716 semapv:UnspecifiedMatching +OMIM:603844 NDUFC1 skos:exactMatch hgnc.symbol:7705 semapv:UnspecifiedMatching +OMIM:603844 NDUFC1 skos:exactMatch hgnc.symbol:NDUFC1 semapv:UnspecifiedMatching +OMIM:603844 NDUFC1 skos:exactMatch ncbigene:4717 semapv:UnspecifiedMatching +OMIM:603845 NDUFC2 skos:exactMatch hgnc.symbol:7706 semapv:UnspecifiedMatching +OMIM:603845 NDUFC2 skos:exactMatch hgnc.symbol:NDUFC2 semapv:UnspecifiedMatching +OMIM:603845 NDUFC2 skos:exactMatch ncbigene:4718 semapv:UnspecifiedMatching +OMIM:603846 NDUFS3 skos:exactMatch hgnc.symbol:7710 semapv:UnspecifiedMatching +OMIM:603846 NDUFS3 skos:exactMatch hgnc.symbol:NDUFS3 semapv:UnspecifiedMatching +OMIM:603846 NDUFS3 skos:exactMatch ncbigene:4722 semapv:UnspecifiedMatching +OMIM:603847 NDUFS5 skos:exactMatch hgnc.symbol:7712 semapv:UnspecifiedMatching +OMIM:603847 NDUFS5 skos:exactMatch hgnc.symbol:NDUFS5 semapv:UnspecifiedMatching +OMIM:603847 NDUFS5 skos:exactMatch ncbigene:4725 semapv:UnspecifiedMatching +OMIM:603848 NDUFS6 skos:exactMatch hgnc.symbol:7713 semapv:UnspecifiedMatching +OMIM:603848 NDUFS6 skos:exactMatch hgnc.symbol:NDUFS6 semapv:UnspecifiedMatching +OMIM:603848 NDUFS6 skos:exactMatch ncbigene:4726 semapv:UnspecifiedMatching +OMIM:603849 NR2E1 skos:exactMatch hgnc.symbol:7973 semapv:UnspecifiedMatching +OMIM:603849 NR2E1 skos:exactMatch hgnc.symbol:NR2E1 semapv:UnspecifiedMatching +OMIM:603849 NR2E1 skos:exactMatch ncbigene:7101 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch UMLS:C1414119 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch UMLS:C1853139 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch UMLS:C4310912 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch hgnc.symbol:2973 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch hgnc.symbol:DNM1L semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch ncbigene:10059 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C1418697 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859050 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751682 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751683 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:9143 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:PHOX2B semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch ncbigene:8929 semapv:UnspecifiedMatching +OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:12386 semapv:UnspecifiedMatching +OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:TSSC4 semapv:UnspecifiedMatching +OMIM:603852 TSSC4 skos:exactMatch ncbigene:10078 semapv:UnspecifiedMatching +OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:13410 semapv:UnspecifiedMatching +OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:TSPAN32 semapv:UnspecifiedMatching +OMIM:603853 TSPAN32 skos:exactMatch ncbigene:10077 semapv:UnspecifiedMatching +OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:13727 semapv:UnspecifiedMatching +OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:RANBP9 semapv:UnspecifiedMatching +OMIM:603854 RANBP9 skos:exactMatch ncbigene:10048 semapv:UnspecifiedMatching +OMIM:603855 cystic fibrosis, modifier of, 1 skos:exactMatch MONDO:0011378 semapv:UnspecifiedMatching +OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:7114 semapv:UnspecifiedMatching +OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:MKRN3 semapv:UnspecifiedMatching +OMIM:603856 MKRN3 skos:exactMatch ncbigene:7681 semapv:UnspecifiedMatching +OMIM:603857 MKRN3AS skos:exactMatch ncbigene:10108 semapv:UnspecifiedMatching +OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:10983 semapv:UnspecifiedMatching +OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:SLC25A13 semapv:UnspecifiedMatching +OMIM:603859 SLC25A13 skos:exactMatch ncbigene:10165 semapv:UnspecifiedMatching +OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:10985 semapv:UnspecifiedMatching +OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:SLC25A15 semapv:UnspecifiedMatching +OMIM:603861 SLC25A15 skos:exactMatch ncbigene:10166 semapv:UnspecifiedMatching +OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:1600 semapv:UnspecifiedMatching +OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:CCNT2 semapv:UnspecifiedMatching +OMIM:603862 CCNT2 skos:exactMatch ncbigene:905 semapv:UnspecifiedMatching +OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:10070 semapv:UnspecifiedMatching +OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:RNF7 semapv:UnspecifiedMatching +OMIM:603863 RNF7 skos:exactMatch ncbigene:9616 semapv:UnspecifiedMatching +OMIM:603864 CCS skos:exactMatch hgnc.symbol:1613 semapv:UnspecifiedMatching +OMIM:603864 CCS skos:exactMatch hgnc.symbol:CCS semapv:UnspecifiedMatching +OMIM:603864 CCS skos:exactMatch ncbigene:9973 semapv:UnspecifiedMatching +OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:4242 semapv:UnspecifiedMatching +OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:GFPT2 semapv:UnspecifiedMatching +OMIM:603865 GFPT2 skos:exactMatch ncbigene:9945 semapv:UnspecifiedMatching +OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:8852 semapv:UnspecifiedMatching +OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:PEX11A semapv:UnspecifiedMatching +OMIM:603866 PEX11A skos:exactMatch ncbigene:8800 semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch UMLS:C1418472 semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:8853 semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:PEX11B semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch ncbigene:8799 semapv:UnspecifiedMatching +OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:9766 semapv:UnspecifiedMatching +OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:RAB27A semapv:UnspecifiedMatching +OMIM:603868 RAB27A skos:exactMatch ncbigene:5873 semapv:UnspecifiedMatching +OMIM:603869 RAB27B skos:exactMatch hgnc.symbol:9767 semapv:UnspecifiedMatching +OMIM:603869 RAB27B skos:exactMatch hgnc.symbol:RAB27B semapv:UnspecifiedMatching +OMIM:603869 RAB27B skos:exactMatch ncbigene:5874 semapv:UnspecifiedMatching +OMIM:603870 CBFA2T3 skos:exactMatch hgnc.symbol:1537 semapv:UnspecifiedMatching +OMIM:603870 CBFA2T3 skos:exactMatch hgnc.symbol:CBFA2T3 semapv:UnspecifiedMatching +OMIM:603870 CBFA2T3 skos:exactMatch ncbigene:863 semapv:UnspecifiedMatching +OMIM:603871 BYSL skos:exactMatch hgnc.symbol:1157 semapv:UnspecifiedMatching +OMIM:603871 BYSL skos:exactMatch hgnc.symbol:BYSL semapv:UnspecifiedMatching +OMIM:603871 BYSL skos:exactMatch ncbigene:705 semapv:UnspecifiedMatching +OMIM:603872 TROAP skos:exactMatch hgnc.symbol:12327 semapv:UnspecifiedMatching +OMIM:603872 TROAP skos:exactMatch hgnc.symbol:TROAP semapv:UnspecifiedMatching +OMIM:603872 TROAP skos:exactMatch ncbigene:10024 semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch UMLS:C1418627 semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch hgnc.symbol:9043 semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch hgnc.symbol:PLAA semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch ncbigene:9373 semapv:UnspecifiedMatching +OMIM:603874 ANGPTL1 skos:exactMatch hgnc.symbol:489 semapv:UnspecifiedMatching +OMIM:603874 ANGPTL1 skos:exactMatch hgnc.symbol:ANGPTL1 semapv:UnspecifiedMatching +OMIM:603874 ANGPTL1 skos:exactMatch ncbigene:9068 semapv:UnspecifiedMatching +OMIM:603875 TNFSF8 skos:exactMatch hgnc.symbol:11938 semapv:UnspecifiedMatching +OMIM:603875 TNFSF8 skos:exactMatch hgnc.symbol:TNFSF8 semapv:UnspecifiedMatching +OMIM:603875 TNFSF8 skos:exactMatch ncbigene:944 semapv:UnspecifiedMatching +OMIM:603876 ADAMTS4 skos:exactMatch hgnc.symbol:220 semapv:UnspecifiedMatching +OMIM:603876 ADAMTS4 skos:exactMatch hgnc.symbol:ADAMTS4 semapv:UnspecifiedMatching +OMIM:603876 ADAMTS4 skos:exactMatch ncbigene:9507 semapv:UnspecifiedMatching +OMIM:603877 SLC16A3 skos:exactMatch hgnc.symbol:10924 semapv:UnspecifiedMatching +OMIM:603877 SLC16A3 skos:exactMatch hgnc.symbol:SLC16A3 semapv:UnspecifiedMatching +OMIM:603877 SLC16A3 skos:exactMatch ncbigene:9123 semapv:UnspecifiedMatching +OMIM:603878 SLC16A4 skos:exactMatch hgnc.symbol:10925 semapv:UnspecifiedMatching +OMIM:603878 SLC16A4 skos:exactMatch hgnc.symbol:SLC16A4 semapv:UnspecifiedMatching +OMIM:603878 SLC16A4 skos:exactMatch ncbigene:9122 semapv:UnspecifiedMatching +OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:10926 semapv:UnspecifiedMatching +OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:SLC16A5 semapv:UnspecifiedMatching +OMIM:603879 SLC16A5 skos:exactMatch ncbigene:9121 semapv:UnspecifiedMatching +OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:10927 semapv:UnspecifiedMatching +OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:SLC16A6 semapv:UnspecifiedMatching +OMIM:603880 SLC16A6 skos:exactMatch ncbigene:9120 semapv:UnspecifiedMatching +OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:7969 semapv:UnspecifiedMatching +OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:NR1I3 semapv:UnspecifiedMatching +OMIM:603881 NR1I3 skos:exactMatch ncbigene:9970 semapv:UnspecifiedMatching +OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:938 semapv:UnspecifiedMatching +OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:BAG2 semapv:UnspecifiedMatching +OMIM:603882 BAG2 skos:exactMatch ncbigene:9532 semapv:UnspecifiedMatching +OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:939 semapv:UnspecifiedMatching +OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:BAG3 semapv:UnspecifiedMatching +OMIM:603883 BAG3 skos:exactMatch ncbigene:9531 semapv:UnspecifiedMatching +OMIM:603884 BAG4 skos:exactMatch hgnc.symbol:940 semapv:UnspecifiedMatching +OMIM:603884 BAG4 skos:exactMatch hgnc.symbol:BAG4 semapv:UnspecifiedMatching +OMIM:603884 BAG4 skos:exactMatch ncbigene:9530 semapv:UnspecifiedMatching +OMIM:603885 BAG5 skos:exactMatch hgnc.symbol:941 semapv:UnspecifiedMatching +OMIM:603885 BAG5 skos:exactMatch hgnc.symbol:BAG5 semapv:UnspecifiedMatching +OMIM:603885 BAG5 skos:exactMatch ncbigene:9529 semapv:UnspecifiedMatching +OMIM:603886 ARTN skos:exactMatch hgnc.symbol:727 semapv:UnspecifiedMatching +OMIM:603886 ARTN skos:exactMatch hgnc.symbol:ARTN semapv:UnspecifiedMatching +OMIM:603886 ARTN skos:exactMatch ncbigene:9048 semapv:UnspecifiedMatching +OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:11813 semapv:UnspecifiedMatching +OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:TIMELESS semapv:UnspecifiedMatching +OMIM:603887 TIMELESS skos:exactMatch ncbigene:8914 semapv:UnspecifiedMatching +OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:6302 semapv:UnspecifiedMatching +OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:KCNS3 semapv:UnspecifiedMatching +OMIM:603888 KCNS3 skos:exactMatch ncbigene:3790 semapv:UnspecifiedMatching +OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:15928 semapv:UnspecifiedMatching +OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:SIRPB1 semapv:UnspecifiedMatching +OMIM:603889 SIRPB1 skos:exactMatch ncbigene:10326 semapv:UnspecifiedMatching +OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:12490 semapv:UnspecifiedMatching +OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:UBE2L6 semapv:UnspecifiedMatching +OMIM:603890 UBE2L6 skos:exactMatch ncbigene:9246 semapv:UnspecifiedMatching +OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:3675 semapv:UnspecifiedMatching +OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:FGF19 semapv:UnspecifiedMatching +OMIM:603891 FGF19 skos:exactMatch ncbigene:9965 semapv:UnspecifiedMatching +OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:30858 semapv:UnspecifiedMatching +OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:EFTUD2 semapv:UnspecifiedMatching +OMIM:603892 EFTUD2 skos:exactMatch ncbigene:9343 semapv:UnspecifiedMatching +OMIM:603893 TANK skos:exactMatch hgnc.symbol:11562 semapv:UnspecifiedMatching +OMIM:603893 TANK skos:exactMatch hgnc.symbol:TANK semapv:UnspecifiedMatching +OMIM:603893 TANK skos:exactMatch ncbigene:10010 semapv:UnspecifiedMatching +OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:10002 semapv:UnspecifiedMatching +OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:RGS6 semapv:UnspecifiedMatching +OMIM:603894 RGS6 skos:exactMatch ncbigene:9628 semapv:UnspecifiedMatching +OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:9993 semapv:UnspecifiedMatching +OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:RGS11 semapv:UnspecifiedMatching +OMIM:603895 RGS11 skos:exactMatch ncbigene:8786 semapv:UnspecifiedMatching +OMIM:603896 leukoencephalopathy with vanishing white matter 1 skos:exactMatch MONDO:0020507 semapv:UnspecifiedMatching +OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:6910 semapv:UnspecifiedMatching +OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:MATN4 semapv:UnspecifiedMatching +OMIM:603897 MATN4 skos:exactMatch ncbigene:8785 semapv:UnspecifiedMatching +OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:11932 semapv:UnspecifiedMatching +OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:TNFSF18 semapv:UnspecifiedMatching +OMIM:603898 TNFSF18 skos:exactMatch ncbigene:8995 semapv:UnspecifiedMatching +OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:13160 semapv:UnspecifiedMatching +OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:ZNF85 semapv:UnspecifiedMatching +OMIM:603899 ZNF85 skos:exactMatch ncbigene:7639 semapv:UnspecifiedMatching +OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:12963 semapv:UnspecifiedMatching +OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:ZNF174 semapv:UnspecifiedMatching +OMIM:603900 ZNF174 skos:exactMatch ncbigene:7727 semapv:UnspecifiedMatching +OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:13051 semapv:UnspecifiedMatching +OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:ZPR1 semapv:UnspecifiedMatching +OMIM:603901 ZPR1 skos:exactMatch ncbigene:8882 semapv:UnspecifiedMatching +OMIM:603902 beta-thalassemia, dominant inclusion body iia skos:exactMatch MONDO:0011381 semapv:UnspecifiedMatching +OMIM:603903 sickle cell disease skos:exactMatch MONDO:0011382 semapv:UnspecifiedMatching +OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:6174 semapv:UnspecifiedMatching +OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:ITM2B semapv:UnspecifiedMatching +OMIM:603904 ITM2B skos:exactMatch ncbigene:9445 semapv:UnspecifiedMatching +OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:11914 semapv:UnspecifiedMatching +OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:TNFRSF18 semapv:UnspecifiedMatching +OMIM:603905 TNFRSF18 skos:exactMatch ncbigene:8784 semapv:UnspecifiedMatching +OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:2015 semapv:UnspecifiedMatching +OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:CLCA1 semapv:UnspecifiedMatching +OMIM:603906 CLCA1 skos:exactMatch ncbigene:1179 semapv:UnspecifiedMatching +OMIM:603907 EIF2S1 skos:exactMatch UMLS:C1414334 semapv:UnspecifiedMatching +OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:3265 semapv:UnspecifiedMatching +OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:EIF2S1 semapv:UnspecifiedMatching +OMIM:603907 EIF2S1 skos:exactMatch ncbigene:1965 semapv:UnspecifiedMatching +OMIM:603908 EIF2S2 skos:exactMatch hgnc.symbol:3266 semapv:UnspecifiedMatching +OMIM:603908 EIF2S2 skos:exactMatch hgnc.symbol:EIF2S2 semapv:UnspecifiedMatching +OMIM:603908 EIF2S2 skos:exactMatch ncbigene:8894 semapv:UnspecifiedMatching +OMIM:603909 autoimmune lymphoproliferative syndrome, iia 2a skos:exactMatch MONDO:0011383 semapv:UnspecifiedMatching +OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:3270 semapv:UnspecifiedMatching +OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:EIF3J semapv:UnspecifiedMatching +OMIM:603910 EIF3J skos:exactMatch ncbigene:8669 semapv:UnspecifiedMatching +OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:3272 semapv:UnspecifiedMatching +OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:EIF3I semapv:UnspecifiedMatching +OMIM:603911 EIF3I skos:exactMatch ncbigene:8668 semapv:UnspecifiedMatching +OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:3273 semapv:UnspecifiedMatching +OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:EIF3H semapv:UnspecifiedMatching +OMIM:603912 EIF3H skos:exactMatch ncbigene:8667 semapv:UnspecifiedMatching +OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:3274 semapv:UnspecifiedMatching +OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:EIF3G semapv:UnspecifiedMatching +OMIM:603913 EIF3G skos:exactMatch ncbigene:8666 semapv:UnspecifiedMatching +OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:3275 semapv:UnspecifiedMatching +OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:EIF3F semapv:UnspecifiedMatching +OMIM:603914 EIF3F skos:exactMatch ncbigene:8665 semapv:UnspecifiedMatching +OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:3278 semapv:UnspecifiedMatching +OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:EIF3D semapv:UnspecifiedMatching +OMIM:603915 EIF3D skos:exactMatch ncbigene:8664 semapv:UnspecifiedMatching +OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:3279 semapv:UnspecifiedMatching +OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:EIF3C semapv:UnspecifiedMatching +OMIM:603916 EIF3C skos:exactMatch ncbigene:8663 semapv:UnspecifiedMatching +OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:3280 semapv:UnspecifiedMatching +OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:EIF3B semapv:UnspecifiedMatching +OMIM:603917 EIF3B skos:exactMatch ncbigene:8662 semapv:UnspecifiedMatching +OMIM:603918 hypertension, essential, susceptibility to, 1 skos:exactMatch MONDO:0011384 semapv:UnspecifiedMatching +OMIM:603919 STK10 skos:exactMatch hgnc.symbol:11388 semapv:UnspecifiedMatching +OMIM:603919 STK10 skos:exactMatch hgnc.symbol:STK10 semapv:UnspecifiedMatching +OMIM:603919 STK10 skos:exactMatch ncbigene:6793 semapv:UnspecifiedMatching +OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:2420 semapv:UnspecifiedMatching +OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:CRYZL1 semapv:UnspecifiedMatching +OMIM:603920 CRYZL1 skos:exactMatch ncbigene:9946 semapv:UnspecifiedMatching +OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:11448 semapv:UnspecifiedMatching +OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:SUCLA2 semapv:UnspecifiedMatching +OMIM:603921 SUCLA2 skos:exactMatch ncbigene:8803 semapv:UnspecifiedMatching +OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:11450 semapv:UnspecifiedMatching +OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:SUCLG2 semapv:UnspecifiedMatching +OMIM:603922 SUCLG2 skos:exactMatch ncbigene:8801 semapv:UnspecifiedMatching +OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:4798 semapv:UnspecifiedMatching +OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:HABP2 semapv:UnspecifiedMatching +OMIM:603924 HABP2 skos:exactMatch ncbigene:3026 semapv:UnspecifiedMatching +OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:11498 semapv:UnspecifiedMatching +OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:SYNGR1 semapv:UnspecifiedMatching +OMIM:603925 SYNGR1 skos:exactMatch ncbigene:9145 semapv:UnspecifiedMatching +OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:11499 semapv:UnspecifiedMatching +OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:SYNGR2 semapv:UnspecifiedMatching +OMIM:603926 SYNGR2 skos:exactMatch ncbigene:9144 semapv:UnspecifiedMatching +OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:11501 semapv:UnspecifiedMatching +OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:SYNGR3 semapv:UnspecifiedMatching +OMIM:603927 SYNGR3 skos:exactMatch ncbigene:9143 semapv:UnspecifiedMatching +OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:3285 semapv:UnspecifiedMatching +OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:EIF4B semapv:UnspecifiedMatching +OMIM:603928 EIF4B skos:exactMatch ncbigene:1975 semapv:UnspecifiedMatching +OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:3298 semapv:UnspecifiedMatching +OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:EIF4G3 semapv:UnspecifiedMatching +OMIM:603929 EIF4G3 skos:exactMatch ncbigene:8672 semapv:UnspecifiedMatching +OMIM:603930 GPHN skos:exactMatch hgnc.symbol:15465 semapv:UnspecifiedMatching +OMIM:603930 GPHN skos:exactMatch hgnc.symbol:GPHN semapv:UnspecifiedMatching +OMIM:603930 GPHN skos:exactMatch ncbigene:10243 semapv:UnspecifiedMatching +OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:863 semapv:UnspecifiedMatching +OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:ATP6V0E1 semapv:UnspecifiedMatching +OMIM:603931 ATP6V0E1 skos:exactMatch ncbigene:8992 semapv:UnspecifiedMatching +OMIM:603932 intervertebral disc disease skos:exactMatch MONDO:0011385 semapv:UnspecifiedMatching +OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 skos:exactMatch MONDO:0011386 semapv:UnspecifiedMatching +OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:23393 semapv:UnspecifiedMatching +OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:CARM1 semapv:UnspecifiedMatching +OMIM:603934 CARM1 skos:exactMatch ncbigene:10498 semapv:UnspecifiedMatching +OMIM:603935 psoriasis 4, susceptibility to skos:exactMatch MONDO:0011387 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch UMLS:C1415032 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:4216 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:GDF11 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch ncbigene:10220 semapv:UnspecifiedMatching +OMIM:603937 RP1 skos:exactMatch hgnc.symbol:10263 semapv:UnspecifiedMatching +OMIM:603937 RP1 skos:exactMatch hgnc.symbol:RP1 semapv:UnspecifiedMatching +OMIM:603937 RP1 skos:exactMatch ncbigene:6101 semapv:UnspecifiedMatching +OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:6281 semapv:UnspecifiedMatching +OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:KCNK6 semapv:UnspecifiedMatching +OMIM:603939 KCNK6 skos:exactMatch ncbigene:9424 semapv:UnspecifiedMatching +OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:6282 semapv:UnspecifiedMatching +OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:KCNK7 semapv:UnspecifiedMatching +OMIM:603940 KCNK7 skos:exactMatch ncbigene:10089 semapv:UnspecifiedMatching +OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:10938 semapv:UnspecifiedMatching +OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:SLC19A2 semapv:UnspecifiedMatching +OMIM:603941 SLC19A2 skos:exactMatch ncbigene:10560 semapv:UnspecifiedMatching +OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:4699 semapv:UnspecifiedMatching +OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:GYG1 semapv:UnspecifiedMatching +OMIM:603942 GYG1 skos:exactMatch ncbigene:2992 semapv:UnspecifiedMatching +OMIM:603943 CDO skos:exactMatch hgnc.symbol:1795 semapv:UnspecifiedMatching +OMIM:603943 CDO skos:exactMatch hgnc.symbol:CDO1 semapv:UnspecifiedMatching +OMIM:603943 CDO skos:exactMatch ncbigene:1036 semapv:UnspecifiedMatching +OMIM:603944 STX6 skos:exactMatch hgnc.symbol:11441 semapv:UnspecifiedMatching +OMIM:603944 STX6 skos:exactMatch hgnc.symbol:STX6 semapv:UnspecifiedMatching +OMIM:603944 STX6 skos:exactMatch ncbigene:10228 semapv:UnspecifiedMatching +OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:3261 semapv:UnspecifiedMatching +OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:EIF2B5 semapv:UnspecifiedMatching +OMIM:603945 EIF2B5 skos:exactMatch ncbigene:8893 semapv:UnspecifiedMatching +OMIM:603946 HELLS skos:exactMatch hgnc.symbol:4861 semapv:UnspecifiedMatching +OMIM:603946 HELLS skos:exactMatch hgnc.symbol:HELLS semapv:UnspecifiedMatching +OMIM:603946 HELLS skos:exactMatch ncbigene:3070 semapv:UnspecifiedMatching +OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:7411 semapv:UnspecifiedMatching +OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:MTA2 semapv:UnspecifiedMatching +OMIM:603947 MTA2 skos:exactMatch ncbigene:9219 semapv:UnspecifiedMatching +OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:8062 semapv:UnspecifiedMatching +OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:NUP153 semapv:UnspecifiedMatching +OMIM:603948 NUP153 skos:exactMatch ncbigene:9972 semapv:UnspecifiedMatching +OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:9789 semapv:UnspecifiedMatching +OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:RAB29 semapv:UnspecifiedMatching +OMIM:603949 RAB7L1 skos:exactMatch ncbigene:8934 semapv:UnspecifiedMatching +OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:7682 semapv:UnspecifiedMatching +OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:NDST3 semapv:UnspecifiedMatching +OMIM:603950 NDST3 skos:exactMatch ncbigene:9348 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1416603 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1837739 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:6285 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:KCNMB1 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch ncbigene:3779 semapv:UnspecifiedMatching +OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:3029 semapv:UnspecifiedMatching +OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:DRG1 semapv:UnspecifiedMatching +OMIM:603952 DRG1 skos:exactMatch ncbigene:4733 semapv:UnspecifiedMatching +OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:6260 semapv:UnspecifiedMatching +OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:KCNJ14 semapv:UnspecifiedMatching +OMIM:603953 KCNJ14 skos:exactMatch ncbigene:3770 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch UMLS:C1421868 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:13194 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:ZW10 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch ncbigene:9183 semapv:UnspecifiedMatching +OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:3770 semapv:UnspecifiedMatching +OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:FMO2 semapv:UnspecifiedMatching +OMIM:603955 FMO2 skos:exactMatch ncbigene:2327 semapv:UnspecifiedMatching +OMIM:603956 cervical cancer skos:exactMatch MONDO:0002974 semapv:UnspecifiedMatching +OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:3773 semapv:UnspecifiedMatching +OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:FMO5 semapv:UnspecifiedMatching +OMIM:603957 FMO5 skos:exactMatch ncbigene:2330 semapv:UnspecifiedMatching +OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:9985 semapv:UnspecifiedMatching +OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:RFX4 semapv:UnspecifiedMatching +OMIM:603958 RFX4 skos:exactMatch ncbigene:5992 semapv:UnspecifiedMatching +OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:2037 semapv:UnspecifiedMatching +OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:CLDN16 semapv:UnspecifiedMatching +OMIM:603959 CLDN16 skos:exactMatch ncbigene:10686 semapv:UnspecifiedMatching +OMIM:603960 CCIN skos:exactMatch hgnc.symbol:1568 semapv:UnspecifiedMatching +OMIM:603960 CCIN skos:exactMatch hgnc.symbol:CCIN semapv:UnspecifiedMatching +OMIM:603960 CCIN skos:exactMatch ncbigene:881 semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch UMLS:C1419942 semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch UMLS:C4016867 semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:10723 semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:SEMA3A semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch ncbigene:10371 semapv:UnspecifiedMatching +OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:9878 semapv:UnspecifiedMatching +OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:RASGRP1 semapv:UnspecifiedMatching +OMIM:603962 RASGRP1 skos:exactMatch ncbigene:10125 semapv:UnspecifiedMatching +OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:6145 semapv:UnspecifiedMatching +OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:ITGA9 semapv:UnspecifiedMatching +OMIM:603963 ITGA9 skos:exactMatch ncbigene:3680 semapv:UnspecifiedMatching +OMIM:603964 deafness, autosomal dominant 16 skos:exactMatch MONDO:0011389 semapv:UnspecifiedMatching +OMIM:603965 focal segmental glomerulosclerosis 2 skos:exactMatch MONDO:0011390 semapv:UnspecifiedMatching +OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:386 semapv:UnspecifiedMatching +OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:AKR1C3 semapv:UnspecifiedMatching +OMIM:603966 AKR1C3 skos:exactMatch ncbigene:8644 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C0221055 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C0238357 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C0752355 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C1419862 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C1858891 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C1868433 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C2750061 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C2931826 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C3280112 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C4016868 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch UMLS:C4016869 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:10591 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:SCN4A semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch ncbigene:6329 semapv:UnspecifiedMatching +OMIM:603968 POLH skos:exactMatch hgnc.symbol:9181 semapv:UnspecifiedMatching +OMIM:603968 POLH skos:exactMatch hgnc.symbol:POLH semapv:UnspecifiedMatching +OMIM:603968 POLH skos:exactMatch ncbigene:5429 semapv:UnspecifiedMatching +OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:11929 semapv:UnspecifiedMatching +OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:TNFSF13B semapv:UnspecifiedMatching +OMIM:603969 TNFSF13B skos:exactMatch ncbigene:10673 semapv:UnspecifiedMatching +OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:9159 semapv:UnspecifiedMatching +OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:PNMA2 semapv:UnspecifiedMatching +OMIM:603970 PNMA2 skos:exactMatch ncbigene:10687 semapv:UnspecifiedMatching +OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:13166 semapv:UnspecifiedMatching +OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:ZNF91 semapv:UnspecifiedMatching +OMIM:603971 ZNF91 skos:exactMatch ncbigene:7644 semapv:UnspecifiedMatching +OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:13109 semapv:UnspecifiedMatching +OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:ZNF43 semapv:UnspecifiedMatching +OMIM:603972 ZNF43 skos:exactMatch ncbigene:7594 semapv:UnspecifiedMatching +OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:13165 semapv:UnspecifiedMatching +OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:ZNF90 semapv:UnspecifiedMatching +OMIM:603973 ZNF90 skos:exactMatch ncbigene:7643 semapv:UnspecifiedMatching +OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:13168 semapv:UnspecifiedMatching +OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:ZNF92 semapv:UnspecifiedMatching +OMIM:603974 ZNF92 skos:exactMatch ncbigene:168374 semapv:UnspecifiedMatching +OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:13169 semapv:UnspecifiedMatching +OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:ZNF93 semapv:UnspecifiedMatching +OMIM:603975 ZNF93 skos:exactMatch ncbigene:81931 semapv:UnspecifiedMatching +OMIM:603976 zinc finger protein 94 skos:exactMatch UMLS:C1858876 semapv:UnspecifiedMatching +OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:12999 semapv:UnspecifiedMatching +OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:ZNF208 semapv:UnspecifiedMatching +OMIM:603977 ZNF208 skos:exactMatch ncbigene:7757 semapv:UnspecifiedMatching +OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:13172 semapv:UnspecifiedMatching +OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:ZSCAN12 semapv:UnspecifiedMatching +OMIM:603978 ZSCAN12 skos:exactMatch ncbigene:9753 semapv:UnspecifiedMatching +OMIM:603979 zinc finger protein 97 skos:exactMatch UMLS:C1421855 semapv:UnspecifiedMatching +OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:13174 semapv:UnspecifiedMatching +OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:ZNF98 semapv:UnspecifiedMatching +OMIM:603980 ZNF98 skos:exactMatch ncbigene:148198 semapv:UnspecifiedMatching +OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:13175 semapv:UnspecifiedMatching +OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:ZNF99 semapv:UnspecifiedMatching +OMIM:603981 ZNF99 skos:exactMatch ncbigene:7652 semapv:UnspecifiedMatching +OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:12880 semapv:UnspecifiedMatching +OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:ZNF100 semapv:UnspecifiedMatching +OMIM:603982 ZNF100 skos:exactMatch ncbigene:163227 semapv:UnspecifiedMatching +OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:12881 semapv:UnspecifiedMatching +OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:ZNF101 semapv:UnspecifiedMatching +OMIM:603983 ZNF101 skos:exactMatch ncbigene:94039 semapv:UnspecifiedMatching +OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:32468 semapv:UnspecifiedMatching +OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:ZNF737 semapv:UnspecifiedMatching +OMIM:603984 ZNF737 skos:exactMatch ncbigene:100129842 semapv:UnspecifiedMatching +OMIM:603985 zinc finger protein 103 skos:exactMatch UMLS:C1858873 semapv:UnspecifiedMatching +OMIM:603987 zinc finger protein 105 skos:exactMatch UMLS:C1858872 semapv:UnspecifiedMatching +OMIM:603988 zinc finger protein 106 skos:exactMatch UMLS:C1858871 semapv:UnspecifiedMatching +OMIM:603989 ZNF107 skos:exactMatch hgnc.symbol:12887 semapv:UnspecifiedMatching +OMIM:603989 ZNF107 skos:exactMatch hgnc.symbol:ZNF107 semapv:UnspecifiedMatching +OMIM:603989 ZNF107 skos:exactMatch ncbigene:51427 semapv:UnspecifiedMatching +OMIM:603991 zinc finger protein 109 skos:exactMatch UMLS:C1858870 semapv:UnspecifiedMatching +OMIM:603992 zinc finger protein 110 skos:exactMatch UMLS:C1858869 semapv:UnspecifiedMatching +OMIM:603993 zinc finger protein 111 skos:exactMatch UMLS:C1858868 semapv:UnspecifiedMatching +OMIM:603994 ZNF112 skos:exactMatch hgnc.symbol:12892 semapv:UnspecifiedMatching +OMIM:603994 ZNF112 skos:exactMatch hgnc.symbol:ZNF112 semapv:UnspecifiedMatching +OMIM:603994 ZNF112 skos:exactMatch ncbigene:7771 semapv:UnspecifiedMatching +OMIM:603995 zinc finger protein 113 skos:exactMatch UMLS:C1858866 semapv:UnspecifiedMatching +OMIM:603996 ZNF114 skos:exactMatch hgnc.symbol:12894 semapv:UnspecifiedMatching +OMIM:603996 ZNF114 skos:exactMatch hgnc.symbol:ZNF114 semapv:UnspecifiedMatching +OMIM:603996 ZNF114 skos:exactMatch ncbigene:163071 semapv:UnspecifiedMatching +OMIM:603997 zinc finger protein 118 skos:exactMatch UMLS:C1858865 semapv:UnspecifiedMatching +OMIM:603998 zinc finger protein 119 skos:exactMatch UMLS:C1858864 semapv:UnspecifiedMatching +OMIM:604000 zinc finger protein 122 skos:exactMatch UMLS:C1858862 semapv:UnspecifiedMatching +OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:379 semapv:UnspecifiedMatching +OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:AKAP9 semapv:UnspecifiedMatching +OMIM:604001 AKAP9 skos:exactMatch ncbigene:10142 semapv:UnspecifiedMatching +OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:10252 semapv:UnspecifiedMatching +OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:ROCK2 semapv:UnspecifiedMatching +OMIM:604002 ROCK2 skos:exactMatch ncbigene:9475 semapv:UnspecifiedMatching +OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:2016 semapv:UnspecifiedMatching +OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:CLCA2 semapv:UnspecifiedMatching +OMIM:604003 CLCA2 skos:exactMatch ncbigene:9635 semapv:UnspecifiedMatching +OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch MONDO:0024555 semapv:UnspecifiedMatching +OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:9686 semapv:UnspecifiedMatching +OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:PTPRZ2 semapv:UnspecifiedMatching +OMIM:604008 PTPRZ2 skos:exactMatch ncbigene:5804 semapv:UnspecifiedMatching +OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:948 semapv:UnspecifiedMatching +OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:BAIAP3 semapv:UnspecifiedMatching +OMIM:604009 BAIAP3 skos:exactMatch ncbigene:8938 semapv:UnspecifiedMatching +OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:9158 semapv:UnspecifiedMatching +OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:PNMA1 semapv:UnspecifiedMatching +OMIM:604010 PNMA1 skos:exactMatch ncbigene:9240 semapv:UnspecifiedMatching +OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:12565 semapv:UnspecifiedMatching +OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:UNC119 semapv:UnspecifiedMatching +OMIM:604011 UNC119 skos:exactMatch ncbigene:9094 semapv:UnspecifiedMatching +OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:10143 semapv:UnspecifiedMatching +OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:SNORD20 semapv:UnspecifiedMatching +OMIM:604012 RNU20 skos:exactMatch ncbigene:6082 semapv:UnspecifiedMatching +OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:925 semapv:UnspecifiedMatching +OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:B4GALT2 semapv:UnspecifiedMatching +OMIM:604013 B4GALT2 skos:exactMatch ncbigene:8704 semapv:UnspecifiedMatching +OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:926 semapv:UnspecifiedMatching +OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:B4GALT3 semapv:UnspecifiedMatching +OMIM:604014 B4GALT3 skos:exactMatch ncbigene:8703 semapv:UnspecifiedMatching +OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:927 semapv:UnspecifiedMatching +OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:B4GALT4 semapv:UnspecifiedMatching +OMIM:604015 B4GALT4 skos:exactMatch ncbigene:8702 semapv:UnspecifiedMatching +OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:928 semapv:UnspecifiedMatching +OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:B4GALT5 semapv:UnspecifiedMatching +OMIM:604016 B4GALT5 skos:exactMatch ncbigene:9334 semapv:UnspecifiedMatching +OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:929 semapv:UnspecifiedMatching +OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:B4GALT6 semapv:UnspecifiedMatching +OMIM:604017 B4GALT6 skos:exactMatch ncbigene:9331 semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch UMLS:C1417891 semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:8061 semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:NUMBL semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch ncbigene:9253 semapv:UnspecifiedMatching +OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:5177 semapv:UnspecifiedMatching +OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:AGFG2 semapv:UnspecifiedMatching +OMIM:604019 AGFG2 skos:exactMatch ncbigene:3268 semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch UMLS:C1412829 semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch hgnc.symbol:1117 semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch hgnc.symbol:BSN semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch ncbigene:8927 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch UMLS:C1420205 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:11041 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:SLC5A6 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch ncbigene:8884 semapv:UnspecifiedMatching +OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:904 semapv:UnspecifiedMatching +OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:AXIN2 semapv:UnspecifiedMatching +OMIM:604025 AXIN2 skos:exactMatch ncbigene:8313 semapv:UnspecifiedMatching +OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:4430 semapv:UnspecifiedMatching +OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:GOSR1 semapv:UnspecifiedMatching +OMIM:604026 GOSR1 skos:exactMatch ncbigene:9527 semapv:UnspecifiedMatching +OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:4431 semapv:UnspecifiedMatching +OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:GOSR2 semapv:UnspecifiedMatching +OMIM:604027 GOSR2 skos:exactMatch ncbigene:9570 semapv:UnspecifiedMatching +OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:16828 semapv:UnspecifiedMatching +OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:SEC22C semapv:UnspecifiedMatching +OMIM:604028 SEC22C skos:exactMatch ncbigene:9117 semapv:UnspecifiedMatching +OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:10700 semapv:UnspecifiedMatching +OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:SEC22B semapv:UnspecifiedMatching +OMIM:604029 SEC22B skos:exactMatch ncbigene:9554 semapv:UnspecifiedMatching +OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:9544 semapv:UnspecifiedMatching +OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:PSMB7 semapv:UnspecifiedMatching +OMIM:604030 PSMB7 skos:exactMatch ncbigene:5695 semapv:UnspecifiedMatching +OMIM:604031 SCD skos:exactMatch hgnc.symbol:10571 semapv:UnspecifiedMatching +OMIM:604031 SCD skos:exactMatch hgnc.symbol:SCD semapv:UnspecifiedMatching +OMIM:604031 SCD skos:exactMatch ncbigene:6319 semapv:UnspecifiedMatching +OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:3255 semapv:UnspecifiedMatching +OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:EIF2AK3 semapv:UnspecifiedMatching +OMIM:604032 EIF2AK3 skos:exactMatch ncbigene:9451 semapv:UnspecifiedMatching +OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:3449 semapv:UnspecifiedMatching +OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:ERN1 semapv:UnspecifiedMatching +OMIM:604033 ERN1 skos:exactMatch ncbigene:2081 semapv:UnspecifiedMatching +OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:16942 semapv:UnspecifiedMatching +OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:ERN2 semapv:UnspecifiedMatching +OMIM:604034 ERN2 skos:exactMatch ncbigene:10595 semapv:UnspecifiedMatching +OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:2583 semapv:UnspecifiedMatching +OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:CYLC2 semapv:UnspecifiedMatching +OMIM:604035 CYLC2 skos:exactMatch ncbigene:1539 semapv:UnspecifiedMatching +OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:1577 semapv:UnspecifiedMatching +OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:CCNA1 semapv:UnspecifiedMatching +OMIM:604036 CCNA1 skos:exactMatch ncbigene:8900 semapv:UnspecifiedMatching +OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:9785 semapv:UnspecifiedMatching +OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:RAB5C semapv:UnspecifiedMatching +OMIM:604037 RAB5C skos:exactMatch ncbigene:5878 semapv:UnspecifiedMatching +OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:5322 semapv:UnspecifiedMatching +OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:HYAL3 semapv:UnspecifiedMatching +OMIM:604038 HYAL3 skos:exactMatch ncbigene:8372 semapv:UnspecifiedMatching +OMIM:604039 OGA skos:exactMatch hgnc.symbol:7056 semapv:UnspecifiedMatching +OMIM:604039 OGA skos:exactMatch hgnc.symbol:OGA semapv:UnspecifiedMatching +OMIM:604039 OGA skos:exactMatch ncbigene:10724 semapv:UnspecifiedMatching +OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:9816 semapv:UnspecifiedMatching +OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:RAD50 semapv:UnspecifiedMatching +OMIM:604040 RAD50 skos:exactMatch ncbigene:10111 semapv:UnspecifiedMatching +OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:7207 semapv:UnspecifiedMatching +OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:MPDU1 semapv:UnspecifiedMatching +OMIM:604041 MPDU1 skos:exactMatch ncbigene:9526 semapv:UnspecifiedMatching +OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:6135 semapv:UnspecifiedMatching +OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:ITGA10 semapv:UnspecifiedMatching +OMIM:604042 ITGA10 skos:exactMatch ncbigene:8515 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch UMLS:C1417672 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch UMLS:C3809954 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:7745 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:NEK2 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch ncbigene:4751 semapv:UnspecifiedMatching +OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:7746 semapv:UnspecifiedMatching +OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:NEK3 semapv:UnspecifiedMatching +OMIM:604044 NEK3 skos:exactMatch ncbigene:4752 semapv:UnspecifiedMatching +OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:10894 semapv:UnspecifiedMatching +OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:PRMT5 semapv:UnspecifiedMatching +OMIM:604045 PRMT5 skos:exactMatch ncbigene:10419 semapv:UnspecifiedMatching +OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:8508 semapv:UnspecifiedMatching +OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:OXSR1 semapv:UnspecifiedMatching +OMIM:604046 OXSR1 skos:exactMatch ncbigene:9943 semapv:UnspecifiedMatching +OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:8494 semapv:UnspecifiedMatching +OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:SLC22A13 semapv:UnspecifiedMatching +OMIM:604047 SLC22A13 skos:exactMatch ncbigene:9390 semapv:UnspecifiedMatching +OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:8495 semapv:UnspecifiedMatching +OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:SLC22A14 semapv:UnspecifiedMatching +OMIM:604048 SLC22A14 skos:exactMatch ncbigene:9389 semapv:UnspecifiedMatching +OMIM:604049 XYLB skos:exactMatch hgnc.symbol:12839 semapv:UnspecifiedMatching +OMIM:604049 XYLB skos:exactMatch hgnc.symbol:XYLB semapv:UnspecifiedMatching +OMIM:604049 XYLB skos:exactMatch ncbigene:9942 semapv:UnspecifiedMatching +OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:2899 semapv:UnspecifiedMatching +OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:DLEC1 semapv:UnspecifiedMatching +OMIM:604050 DLEC1 skos:exactMatch ncbigene:9940 semapv:UnspecifiedMatching +OMIM:604051 EXOG skos:exactMatch hgnc.symbol:3347 semapv:UnspecifiedMatching +OMIM:604051 EXOG skos:exactMatch hgnc.symbol:EXOG semapv:UnspecifiedMatching +OMIM:604051 EXOG skos:exactMatch ncbigene:9941 semapv:UnspecifiedMatching +OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:11931 semapv:UnspecifiedMatching +OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:TNFSF15 semapv:UnspecifiedMatching +OMIM:604052 TNFSF15 skos:exactMatch ncbigene:9966 semapv:UnspecifiedMatching +OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:1096 semapv:UnspecifiedMatching +OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:BPNT1 semapv:UnspecifiedMatching +OMIM:604053 BPNT1 skos:exactMatch ncbigene:10380 semapv:UnspecifiedMatching +OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:82 semapv:UnspecifiedMatching +OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:ACAA1 semapv:UnspecifiedMatching +OMIM:604054 ACAA1 skos:exactMatch ncbigene:30 semapv:UnspecifiedMatching +OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:5387 semapv:UnspecifiedMatching +OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:IDI1 semapv:UnspecifiedMatching +OMIM:604055 IDI1 skos:exactMatch ncbigene:3422 semapv:UnspecifiedMatching +OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:5195 semapv:UnspecifiedMatching +OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:HS3ST2 semapv:UnspecifiedMatching +OMIM:604056 HS3ST2 skos:exactMatch ncbigene:9956 semapv:UnspecifiedMatching +OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:5196 semapv:UnspecifiedMatching +OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:HS3ST3A1 semapv:UnspecifiedMatching +OMIM:604057 HS3ST3A1 skos:exactMatch ncbigene:9955 semapv:UnspecifiedMatching +OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:5198 semapv:UnspecifiedMatching +OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:HS3ST3B1 semapv:UnspecifiedMatching +OMIM:604058 HS3ST3B1 skos:exactMatch ncbigene:9953 semapv:UnspecifiedMatching +OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:5200 semapv:UnspecifiedMatching +OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:HS3ST4 semapv:UnspecifiedMatching +OMIM:604059 HS3ST4 skos:exactMatch ncbigene:9951 semapv:UnspecifiedMatching +OMIM:604060 deafness, autosomal recessive 20 skos:exactMatch MONDO:0011392 semapv:UnspecifiedMatching +OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:7323 semapv:UnspecifiedMatching +OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:SEPTIN9 semapv:UnspecifiedMatching +OMIM:604061 SEPT9 skos:exactMatch ncbigene:10801 semapv:UnspecifiedMatching +OMIM:604062 MED16 skos:exactMatch hgnc.symbol:17556 semapv:UnspecifiedMatching +OMIM:604062 MED16 skos:exactMatch hgnc.symbol:MED16 semapv:UnspecifiedMatching +OMIM:604062 MED16 skos:exactMatch ncbigene:10025 semapv:UnspecifiedMatching +OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:6144 semapv:UnspecifiedMatching +OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:ITGA8 semapv:UnspecifiedMatching +OMIM:604063 ITGA8 skos:exactMatch ncbigene:8516 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch UMLS:C1412617 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:786 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:ATF4 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch ncbigene:468 semapv:UnspecifiedMatching +OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:1394 semapv:UnspecifiedMatching +OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:CACNA1G semapv:UnspecifiedMatching +OMIM:604065 CACNA1G skos:exactMatch ncbigene:8913 semapv:UnspecifiedMatching +OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:920 semapv:UnspecifiedMatching +OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:B3GALT5 semapv:UnspecifiedMatching +OMIM:604066 B3GALT5 skos:exactMatch ncbigene:10317 semapv:UnspecifiedMatching +OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:10004 semapv:UnspecifiedMatching +OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:RGS9 semapv:UnspecifiedMatching +OMIM:604067 RGS9 skos:exactMatch ncbigene:8787 semapv:UnspecifiedMatching +OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:12005 semapv:UnspecifiedMatching +OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:TPD52 semapv:UnspecifiedMatching +OMIM:604068 TPD52 skos:exactMatch ncbigene:7163 semapv:UnspecifiedMatching +OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:12006 semapv:UnspecifiedMatching +OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:TPD52L1 semapv:UnspecifiedMatching +OMIM:604069 TPD52L1 skos:exactMatch ncbigene:7164 semapv:UnspecifiedMatching +OMIM:604070 DGKB skos:exactMatch hgnc.symbol:2850 semapv:UnspecifiedMatching +OMIM:604070 DGKB skos:exactMatch hgnc.symbol:DGKB semapv:UnspecifiedMatching +OMIM:604070 DGKB skos:exactMatch ncbigene:1607 semapv:UnspecifiedMatching +OMIM:604071 DGKH skos:exactMatch hgnc.symbol:2854 semapv:UnspecifiedMatching +OMIM:604071 DGKH skos:exactMatch hgnc.symbol:DGKH semapv:UnspecifiedMatching +OMIM:604071 DGKH skos:exactMatch ncbigene:160851 semapv:UnspecifiedMatching +OMIM:604072 DGKI skos:exactMatch hgnc.symbol:2855 semapv:UnspecifiedMatching +OMIM:604072 DGKI skos:exactMatch hgnc.symbol:DGKI semapv:UnspecifiedMatching +OMIM:604072 DGKI skos:exactMatch ncbigene:9162 semapv:UnspecifiedMatching +OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:12915 semapv:UnspecifiedMatching +OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:ZNF131 semapv:UnspecifiedMatching +OMIM:604073 ZNF131 skos:exactMatch ncbigene:7690 semapv:UnspecifiedMatching +OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:12916 semapv:UnspecifiedMatching +OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:ZNF132 semapv:UnspecifiedMatching +OMIM:604074 ZNF132 skos:exactMatch ncbigene:7691 semapv:UnspecifiedMatching +OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:12917 semapv:UnspecifiedMatching +OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:ZNF133 semapv:UnspecifiedMatching +OMIM:604075 ZNF133 skos:exactMatch ncbigene:7692 semapv:UnspecifiedMatching +OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:12918 semapv:UnspecifiedMatching +OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:ZNF134 semapv:UnspecifiedMatching +OMIM:604076 ZNF134 skos:exactMatch ncbigene:7693 semapv:UnspecifiedMatching +OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:12919 semapv:UnspecifiedMatching +OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:ZNF135 semapv:UnspecifiedMatching +OMIM:604077 ZNF135 skos:exactMatch ncbigene:7694 semapv:UnspecifiedMatching +OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:12920 semapv:UnspecifiedMatching +OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:ZNF136 semapv:UnspecifiedMatching +OMIM:604078 ZNF136 skos:exactMatch ncbigene:7695 semapv:UnspecifiedMatching +OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:12921 semapv:UnspecifiedMatching +OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:ZNF137P semapv:UnspecifiedMatching +OMIM:604079 ZNF137 skos:exactMatch ncbigene:7696 semapv:UnspecifiedMatching +OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:12922 semapv:UnspecifiedMatching +OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:ZNF138 semapv:UnspecifiedMatching +OMIM:604080 ZNF138 skos:exactMatch ncbigene:7697 semapv:UnspecifiedMatching +OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:12925 semapv:UnspecifiedMatching +OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:ZNF140 semapv:UnspecifiedMatching +OMIM:604082 ZNF140 skos:exactMatch ncbigene:7699 semapv:UnspecifiedMatching +OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:12927 semapv:UnspecifiedMatching +OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:ZNF142 semapv:UnspecifiedMatching +OMIM:604083 ZNF142 skos:exactMatch ncbigene:7701 semapv:UnspecifiedMatching +OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:12936 semapv:UnspecifiedMatching +OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:ZBTB17 semapv:UnspecifiedMatching +OMIM:604084 ZBTB17 skos:exactMatch ncbigene:7709 semapv:UnspecifiedMatching +OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:12939 semapv:UnspecifiedMatching +OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:ZNF154 semapv:UnspecifiedMatching +OMIM:604085 ZNF154 skos:exactMatch ncbigene:7710 semapv:UnspecifiedMatching +OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:12940 semapv:UnspecifiedMatching +OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:ZNF155 semapv:UnspecifiedMatching +OMIM:604086 ZNF155 skos:exactMatch ncbigene:7711 semapv:UnspecifiedMatching +OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:2641 semapv:UnspecifiedMatching +OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:CYP46A1 semapv:UnspecifiedMatching +OMIM:604087 CYP46A1 skos:exactMatch ncbigene:10858 semapv:UnspecifiedMatching +OMIM:604088 PPP1R17 skos:exactMatch hgnc.symbol:16973 semapv:UnspecifiedMatching +OMIM:604088 PPP1R17 skos:exactMatch hgnc.symbol:PPP1R17 semapv:UnspecifiedMatching +OMIM:604088 PPP1R17 skos:exactMatch ncbigene:10842 semapv:UnspecifiedMatching +OMIM:604089 HCST skos:exactMatch hgnc.symbol:16977 semapv:UnspecifiedMatching +OMIM:604089 HCST skos:exactMatch hgnc.symbol:HCST semapv:UnspecifiedMatching +OMIM:604089 HCST skos:exactMatch ncbigene:10870 semapv:UnspecifiedMatching +OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:2904 semapv:UnspecifiedMatching +OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:DLG5 semapv:UnspecifiedMatching +OMIM:604090 DLG5 skos:exactMatch ncbigene:9231 semapv:UnspecifiedMatching +OMIM:604091 hypoalphalipoproteinemia, primary, 1 skos:exactMatch MONDO:0011393 semapv:UnspecifiedMatching +OMIM:604092 TTK skos:exactMatch hgnc.symbol:12401 semapv:UnspecifiedMatching +OMIM:604092 TTK skos:exactMatch hgnc.symbol:TTK semapv:UnspecifiedMatching +OMIM:604092 TTK skos:exactMatch ncbigene:7272 semapv:UnspecifiedMatching +OMIM:604093 keratosis pilaris atrophicans skos:exactMatch MONDO:0018855 semapv:UnspecifiedMatching +OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:6764 semapv:UnspecifiedMatching +OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:MAD2L2 semapv:UnspecifiedMatching +OMIM:604094 MAD2L2 skos:exactMatch ncbigene:10459 semapv:UnspecifiedMatching +OMIM:604095 EDAR skos:exactMatch hgnc.symbol:2895 semapv:UnspecifiedMatching +OMIM:604095 EDAR skos:exactMatch hgnc.symbol:EDAR semapv:UnspecifiedMatching +OMIM:604095 EDAR skos:exactMatch ncbigene:10913 semapv:UnspecifiedMatching +OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:4598 semapv:UnspecifiedMatching +OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:GRM6 semapv:UnspecifiedMatching +OMIM:604096 GRM6 skos:exactMatch ncbigene:2916 semapv:UnspecifiedMatching +OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:12636 semapv:UnspecifiedMatching +OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:UTS2 semapv:UnspecifiedMatching +OMIM:604097 UTS2 skos:exactMatch ncbigene:10911 semapv:UnspecifiedMatching +OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:16987 semapv:UnspecifiedMatching +OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:SUGT1 semapv:UnspecifiedMatching +OMIM:604098 SUGT1 skos:exactMatch ncbigene:10910 semapv:UnspecifiedMatching +OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:4594 semapv:UnspecifiedMatching +OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:GRM2 semapv:UnspecifiedMatching +OMIM:604099 GRM2 skos:exactMatch ncbigene:2912 semapv:UnspecifiedMatching +OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:4596 semapv:UnspecifiedMatching +OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:GRM4 semapv:UnspecifiedMatching +OMIM:604100 GRM4 skos:exactMatch ncbigene:2914 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch UMLS:C1415309 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:4599 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:GRM7 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch ncbigene:2917 semapv:UnspecifiedMatching +OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:4597 semapv:UnspecifiedMatching +OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:GRM5 semapv:UnspecifiedMatching +OMIM:604102 GRM5 skos:exactMatch ncbigene:2915 semapv:UnspecifiedMatching +OMIM:604103 MYOT skos:exactMatch hgnc.symbol:12399 semapv:UnspecifiedMatching +OMIM:604103 MYOT skos:exactMatch hgnc.symbol:MYOT semapv:UnspecifiedMatching +OMIM:604103 MYOT skos:exactMatch ncbigene:9499 semapv:UnspecifiedMatching +OMIM:604104 GMFG skos:exactMatch hgnc.symbol:4374 semapv:UnspecifiedMatching +OMIM:604104 GMFG skos:exactMatch hgnc.symbol:GMFG semapv:UnspecifiedMatching +OMIM:604104 GMFG skos:exactMatch ncbigene:9535 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch UMLS:C1420540 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:11490 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:SYCP2 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch ncbigene:10388 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch UMLS:C1415243 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:4508 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:GPR52 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch ncbigene:9293 semapv:UnspecifiedMatching +OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:4511 semapv:UnspecifiedMatching +OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:GPR55 semapv:UnspecifiedMatching +OMIM:604107 GPR55 skos:exactMatch ncbigene:9290 semapv:UnspecifiedMatching +OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:6869 semapv:UnspecifiedMatching +OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:MAP7 semapv:UnspecifiedMatching +OMIM:604108 MAP7 skos:exactMatch ncbigene:9053 semapv:UnspecifiedMatching +OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:4904 semapv:UnspecifiedMatching +OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:HHLA1 semapv:UnspecifiedMatching +OMIM:604109 HHLA1 skos:exactMatch ncbigene:10086 semapv:UnspecifiedMatching +OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:4512 semapv:UnspecifiedMatching +OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:ADGRG1 semapv:UnspecifiedMatching +OMIM:604110 ADGRG1 skos:exactMatch ncbigene:9289 semapv:UnspecifiedMatching +OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:6230 semapv:UnspecifiedMatching +OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:KCNAB3 semapv:UnspecifiedMatching +OMIM:604111 KCNAB3 skos:exactMatch ncbigene:9196 semapv:UnspecifiedMatching +OMIM:604112 SCEL skos:exactMatch hgnc.symbol:10573 semapv:UnspecifiedMatching +OMIM:604112 SCEL skos:exactMatch hgnc.symbol:SCEL semapv:UnspecifiedMatching +OMIM:604112 SCEL skos:exactMatch ncbigene:8796 semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch UMLS:C1416392 semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch UMLS:C5231406 semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:5987 semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:IL18BP semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch ncbigene:10068 semapv:UnspecifiedMatching +OMIM:604114 PLCB2 skos:exactMatch hgnc.symbol:9055 semapv:UnspecifiedMatching +OMIM:604114 PLCB2 skos:exactMatch hgnc.symbol:PLCB2 semapv:UnspecifiedMatching +OMIM:604114 PLCB2 skos:exactMatch ncbigene:5330 semapv:UnspecifiedMatching +OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc.symbol:6295 semapv:UnspecifiedMatching +OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc.symbol:KCNQ1OT1 semapv:UnspecifiedMatching +OMIM:604115 KCNQ1OT1 skos:exactMatch ncbigene:10984 semapv:UnspecifiedMatching +OMIM:604116 cone-rod dystrophy 3 skos:exactMatch MONDO:0011395 semapv:UnspecifiedMatching +OMIM:604116 cone-rod dystrophy 3 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +OMIM:604116 cone-rod dystrophy 3 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching +OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch MONDO:0011396 semapv:UnspecifiedMatching +OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch Orphanet:79395 semapv:UnspecifiedMatching +OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch UMLS:C1858805 semapv:UnspecifiedMatching +OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:9873 semapv:UnspecifiedMatching +OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:RASAL1 semapv:UnspecifiedMatching +OMIM:604118 RASAL1 skos:exactMatch ncbigene:8437 semapv:UnspecifiedMatching +OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:10913 semapv:UnspecifiedMatching +OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:SLC12A4 semapv:UnspecifiedMatching +OMIM:604119 SLC12A4 skos:exactMatch ncbigene:6560 semapv:UnspecifiedMatching +OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant skos:exactMatch MONDO:0011397 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch UMLS:C1418560 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch hgnc.symbol:8959 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch hgnc.symbol:PIGB semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch ncbigene:9488 semapv:UnspecifiedMatching +OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:18466 semapv:UnspecifiedMatching +OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:RNASEH1 semapv:UnspecifiedMatching +OMIM:604123 RNASEH1 skos:exactMatch ncbigene:246243 semapv:UnspecifiedMatching +OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:9891 semapv:UnspecifiedMatching +OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:RBBP8 semapv:UnspecifiedMatching +OMIM:604124 RBBP8 skos:exactMatch ncbigene:5932 semapv:UnspecifiedMatching +OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:11459 semapv:UnspecifiedMatching +OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:SULT2B1 semapv:UnspecifiedMatching +OMIM:604125 SULT2B1 skos:exactMatch ncbigene:6820 semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch UMLS:C1420533 semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch hgnc.symbol:11480 semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch hgnc.symbol:SVIL semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch ncbigene:6840 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch UMLS:C1420605 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch UMLS:C1850040 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:11594 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:TBX15 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch ncbigene:6913 semapv:UnspecifiedMatching +OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:11615 semapv:UnspecifiedMatching +OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:TCEA3 semapv:UnspecifiedMatching +OMIM:604128 TCEA3 skos:exactMatch ncbigene:6920 semapv:UnspecifiedMatching +OMIM:604129 epidermolysis bullosa pruriginosa skos:exactMatch MONDO:0011398 semapv:UnspecifiedMatching +OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:12634 semapv:UnspecifiedMatching +OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:UTF1 semapv:UnspecifiedMatching +OMIM:604130 UTF1 skos:exactMatch ncbigene:8433 semapv:UnspecifiedMatching +OMIM:604131 alpha-thalassemia skos:exactMatch MONDO:0011399 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1413036 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C5394574 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:1366 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:ADAMTS13 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch ncbigene:11093 semapv:UnspecifiedMatching +OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:7783 semapv:UnspecifiedMatching +OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:NFE2L3 semapv:UnspecifiedMatching +OMIM:604135 NFE2L3 skos:exactMatch ncbigene:9603 semapv:UnspecifiedMatching +OMIM:604136 IL24 skos:exactMatch hgnc.symbol:11346 semapv:UnspecifiedMatching +OMIM:604136 IL24 skos:exactMatch hgnc.symbol:IL24 semapv:UnspecifiedMatching +OMIM:604136 IL24 skos:exactMatch ncbigene:11009 semapv:UnspecifiedMatching +OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:9836 semapv:UnspecifiedMatching +OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:GPRC5A semapv:UnspecifiedMatching +OMIM:604138 GPRC5A skos:exactMatch ncbigene:9052 semapv:UnspecifiedMatching +OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:5228 semapv:UnspecifiedMatching +OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:DNAJB2 semapv:UnspecifiedMatching +OMIM:604139 DNAJB2 skos:exactMatch ncbigene:3300 semapv:UnspecifiedMatching +OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:2680 semapv:UnspecifiedMatching +OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:DIDO1 semapv:UnspecifiedMatching +OMIM:604140 DIDO1 skos:exactMatch ncbigene:11083 semapv:UnspecifiedMatching +OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:15772 semapv:UnspecifiedMatching +OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:ARFGEF1 semapv:UnspecifiedMatching +OMIM:604141 ARFGEF1 skos:exactMatch ncbigene:10565 semapv:UnspecifiedMatching +OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:12449 semapv:UnspecifiedMatching +OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:TYROBP semapv:UnspecifiedMatching +OMIM:604142 TYROBP skos:exactMatch ncbigene:7305 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch UMLS:C1424597 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:16856 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:ESPL1 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch ncbigene:9700 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C0010691 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C1420228 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:11067 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:SLC7A9 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch ncbigene:11136 semapv:UnspecifiedMatching +OMIM:604145 cardiomyopathy, dilated, 1g skos:exactMatch MONDO:0011400 semapv:UnspecifiedMatching +OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:11514 semapv:UnspecifiedMatching +OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:SYT7 semapv:UnspecifiedMatching +OMIM:604146 SYT7 skos:exactMatch ncbigene:9066 semapv:UnspecifiedMatching +OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:9690 semapv:UnspecifiedMatching +OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:PTTG1 semapv:UnspecifiedMatching +OMIM:604147 PTTG1 skos:exactMatch ncbigene:9232 semapv:UnspecifiedMatching +OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:10917 semapv:UnspecifiedMatching +OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:SLC13A2 semapv:UnspecifiedMatching +OMIM:604148 SLC13A2 skos:exactMatch ncbigene:9058 semapv:UnspecifiedMatching +OMIM:604149 SGCE skos:exactMatch hgnc.symbol:10808 semapv:UnspecifiedMatching +OMIM:604149 SGCE skos:exactMatch hgnc.symbol:SGCE semapv:UnspecifiedMatching +OMIM:604149 SGCE skos:exactMatch ncbigene:8910 semapv:UnspecifiedMatching +OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:9197 semapv:UnspecifiedMatching +OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:POLR2J semapv:UnspecifiedMatching +OMIM:604150 POLR2J skos:exactMatch ncbigene:5439 semapv:UnspecifiedMatching +OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:12479 semapv:UnspecifiedMatching +OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:UBE2E3 semapv:UnspecifiedMatching +OMIM:604151 UBE2E3 skos:exactMatch ncbigene:10477 semapv:UnspecifiedMatching +OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:8096 semapv:UnspecifiedMatching +OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:OAZ2 semapv:UnspecifiedMatching +OMIM:604152 OAZ2 skos:exactMatch ncbigene:4947 semapv:UnspecifiedMatching +OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:4518 semapv:UnspecifiedMatching +OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:NMUR1 semapv:UnspecifiedMatching +OMIM:604153 NMUR1 skos:exactMatch ncbigene:10316 semapv:UnspecifiedMatching +OMIM:604154 alzheimer disease 15 skos:exactMatch MONDO:0011401 semapv:UnspecifiedMatching +OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:6508 semapv:UnspecifiedMatching +OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:LANCL1 semapv:UnspecifiedMatching +OMIM:604155 LANCL1 skos:exactMatch ncbigene:10314 semapv:UnspecifiedMatching +OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:10776 semapv:UnspecifiedMatching +OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:SFRP1 semapv:UnspecifiedMatching +OMIM:604156 SFRP1 skos:exactMatch ncbigene:6422 semapv:UnspecifiedMatching +OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:10777 semapv:UnspecifiedMatching +OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:SFRP2 semapv:UnspecifiedMatching +OMIM:604157 SFRP2 skos:exactMatch ncbigene:6423 semapv:UnspecifiedMatching +OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:10779 semapv:UnspecifiedMatching +OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:SFRP5 semapv:UnspecifiedMatching +OMIM:604158 SFRP5 skos:exactMatch ncbigene:6425 semapv:UnspecifiedMatching +OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:11051 semapv:UnspecifiedMatching +OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:SLC6A5 semapv:UnspecifiedMatching +OMIM:604159 SLC6A5 skos:exactMatch ncbigene:9152 semapv:UnspecifiedMatching +OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:6163 semapv:UnspecifiedMatching +OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:ITGB8 semapv:UnspecifiedMatching +OMIM:604160 ITGB8 skos:exactMatch ncbigene:3696 semapv:UnspecifiedMatching +OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:4510 semapv:UnspecifiedMatching +OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:KISS1R semapv:UnspecifiedMatching +OMIM:604161 KISS1R skos:exactMatch ncbigene:84634 semapv:UnspecifiedMatching +OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:10332 semapv:UnspecifiedMatching +OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:RPL3 semapv:UnspecifiedMatching +OMIM:604163 RPL3 skos:exactMatch ncbigene:6122 semapv:UnspecifiedMatching +OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:8138 semapv:UnspecifiedMatching +OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:ONECUT1 semapv:UnspecifiedMatching +OMIM:604164 ONECUT1 skos:exactMatch ncbigene:3175 semapv:UnspecifiedMatching +OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:10981 semapv:UnspecifiedMatching +OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:SLC25A11 semapv:UnspecifiedMatching +OMIM:604165 SLC25A11 skos:exactMatch ncbigene:8402 semapv:UnspecifiedMatching +OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:10363 semapv:UnspecifiedMatching +OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:RPL7 semapv:UnspecifiedMatching +OMIM:604166 RPL7 skos:exactMatch ncbigene:6129 semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch UMLS:C1422163 semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch UMLS:C3809686 semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch hgnc.symbol:13723 semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch hgnc.symbol:CTCF semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch ncbigene:10664 semapv:UnspecifiedMatching +OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy skos:exactMatch MONDO:0011402 semapv:UnspecifiedMatching +OMIM:604169 left ventricular noncompaction 1 skos:exactMatch MONDO:0011403 semapv:UnspecifiedMatching +OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:9092 semapv:UnspecifiedMatching +OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:PLSCR1 semapv:UnspecifiedMatching +OMIM:604170 PLSCR1 skos:exactMatch ncbigene:5359 semapv:UnspecifiedMatching +OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:19071 semapv:UnspecifiedMatching +OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:ALYREF semapv:UnspecifiedMatching +OMIM:604171 ALYREF skos:exactMatch ncbigene:10189 semapv:UnspecifiedMatching +OMIM:604172 caronte skos:exactMatch MONDO:0011404 semapv:UnspecifiedMatching +OMIM:604173 poikiloderma with neutropenia skos:exactMatch MONDO:0011405 semapv:UnspecifiedMatching +OMIM:604173 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 semapv:UnspecifiedMatching +OMIM:604173 poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch UMLS:C1419632 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:10306 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:RPL15 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch ncbigene:6138 semapv:UnspecifiedMatching +OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:10301 semapv:UnspecifiedMatching +OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:RPL11 semapv:UnspecifiedMatching +OMIM:604175 RPL11 skos:exactMatch ncbigene:6135 semapv:UnspecifiedMatching +OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:19391 semapv:UnspecifiedMatching +OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:SOCS3 semapv:UnspecifiedMatching +OMIM:604176 SOCS3 skos:exactMatch ncbigene:9021 semapv:UnspecifiedMatching +OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:10368 semapv:UnspecifiedMatching +OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:RPL8 semapv:UnspecifiedMatching +OMIM:604177 RPL8 skos:exactMatch ncbigene:6132 semapv:UnspecifiedMatching +OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:10311 semapv:UnspecifiedMatching +OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:RPL18A semapv:UnspecifiedMatching +OMIM:604178 RPL18A skos:exactMatch ncbigene:6142 semapv:UnspecifiedMatching +OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:10310 semapv:UnspecifiedMatching +OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:RPL18 semapv:UnspecifiedMatching +OMIM:604179 RPL18 skos:exactMatch ncbigene:6141 semapv:UnspecifiedMatching +OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:10325 semapv:UnspecifiedMatching +OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:RPL24 semapv:UnspecifiedMatching +OMIM:604180 RPL24 skos:exactMatch ncbigene:6152 semapv:UnspecifiedMatching +OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:10347 semapv:UnspecifiedMatching +OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:RPL37 semapv:UnspecifiedMatching +OMIM:604181 RPL37 skos:exactMatch ncbigene:6167 semapv:UnspecifiedMatching +OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:10349 semapv:UnspecifiedMatching +OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:RPL38 semapv:UnspecifiedMatching +OMIM:604182 RPL38 skos:exactMatch ncbigene:6169 semapv:UnspecifiedMatching +OMIM:604183 cholesteatoma, congenital skos:exactMatch MONDO:0011406 semapv:UnspecifiedMatching +OMIM:604184 PUNC skos:exactMatch hgnc.symbol:9700 semapv:UnspecifiedMatching +OMIM:604184 PUNC skos:exactMatch hgnc.symbol:IGDCC3 semapv:UnspecifiedMatching +OMIM:604184 PUNC skos:exactMatch ncbigene:9543 semapv:UnspecifiedMatching +OMIM:604185 facial paresis, hereditary congenital, 2 skos:exactMatch MONDO:0011407 semapv:UnspecifiedMatching +OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:10640 semapv:UnspecifiedMatching +OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:CXCL14 semapv:UnspecifiedMatching +OMIM:604186 CXCL14 skos:exactMatch ncbigene:9547 semapv:UnspecifiedMatching +OMIM:604187 spastic paraplegia 10, autosomal dominant skos:exactMatch MONDO:0011408 semapv:UnspecifiedMatching +OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:10719 semapv:UnspecifiedMatching +OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:SELENBP1 semapv:UnspecifiedMatching +OMIM:604188 SELENBP1 skos:exactMatch ncbigene:8991 semapv:UnspecifiedMatching +OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:5271 semapv:UnspecifiedMatching +OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:DNAJC4 semapv:UnspecifiedMatching +OMIM:604189 DNAJC4 skos:exactMatch ncbigene:3338 semapv:UnspecifiedMatching +OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:10968 semapv:UnspecifiedMatching +OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:SLC22A4 semapv:UnspecifiedMatching +OMIM:604190 SLC22A4 skos:exactMatch ncbigene:6583 semapv:UnspecifiedMatching +OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:13056 semapv:UnspecifiedMatching +OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:ZNF263 semapv:UnspecifiedMatching +OMIM:604191 ZNF263 skos:exactMatch ncbigene:10127 semapv:UnspecifiedMatching +OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:10997 semapv:UnspecifiedMatching +OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:SLC27A3 semapv:UnspecifiedMatching +OMIM:604193 SLC27A3 skos:exactMatch ncbigene:11000 semapv:UnspecifiedMatching +OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:10998 semapv:UnspecifiedMatching +OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:SLC27A4 semapv:UnspecifiedMatching +OMIM:604194 SLC27A4 skos:exactMatch ncbigene:10999 semapv:UnspecifiedMatching +OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:11000 semapv:UnspecifiedMatching +OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:SLC27A6 semapv:UnspecifiedMatching +OMIM:604196 SLC27A6 skos:exactMatch ncbigene:28965 semapv:UnspecifiedMatching +OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:7437 semapv:UnspecifiedMatching +OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:MTHFS semapv:UnspecifiedMatching +OMIM:604197 MTHFS skos:exactMatch ncbigene:10588 semapv:UnspecifiedMatching +OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:9761 semapv:UnspecifiedMatching +OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:RAB11B semapv:UnspecifiedMatching +OMIM:604198 RAB11B skos:exactMatch ncbigene:9230 semapv:UnspecifiedMatching +OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:9774 semapv:UnspecifiedMatching +OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:RAB35 semapv:UnspecifiedMatching +OMIM:604199 RAB35 skos:exactMatch ncbigene:11021 semapv:UnspecifiedMatching +OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:10874 semapv:UnspecifiedMatching +OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:SIGLEC5 semapv:UnspecifiedMatching +OMIM:604200 SIGLEC5 skos:exactMatch ncbigene:8778 semapv:UnspecifiedMatching +OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection skos:exactMatch MONDO:0011409 semapv:UnspecifiedMatching +OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:11133 semapv:UnspecifiedMatching +OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:SNAP29 semapv:UnspecifiedMatching +OMIM:604202 SNAP29 skos:exactMatch ncbigene:9342 semapv:UnspecifiedMatching +OMIM:604203 STX8 skos:exactMatch hgnc.symbol:11443 semapv:UnspecifiedMatching +OMIM:604203 STX8 skos:exactMatch hgnc.symbol:STX8 semapv:UnspecifiedMatching +OMIM:604203 STX8 skos:exactMatch ncbigene:9482 semapv:UnspecifiedMatching +OMIM:604204 STX17 skos:exactMatch hgnc.symbol:11432 semapv:UnspecifiedMatching +OMIM:604204 STX17 skos:exactMatch hgnc.symbol:STX17 semapv:UnspecifiedMatching +OMIM:604204 STX17 skos:exactMatch ncbigene:55014 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch UMLS:C1413675 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:2314 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:CPNE1 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch ncbigene:8904 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch UMLS:C1413676 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:2315 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:CPNE2 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch ncbigene:221184 semapv:UnspecifiedMatching +OMIM:604207 CPNE3 skos:exactMatch UMLS:C1413677 semapv:UnspecifiedMatching +OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:2316 semapv:UnspecifiedMatching +OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:CPNE3 semapv:UnspecifiedMatching +OMIM:604207 CPNE3 skos:exactMatch ncbigene:8895 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch UMLS:C1413678 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:2317 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:CPNE4 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch ncbigene:131034 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch UMLS:C1413679 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:2318 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:CPNE5 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch ncbigene:57699 semapv:UnspecifiedMatching +OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:2343 semapv:UnspecifiedMatching +OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:CRB1 semapv:UnspecifiedMatching +OMIM:604210 CRB1 skos:exactMatch ncbigene:23418 semapv:UnspecifiedMatching +OMIM:604211 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch MONDO:0011410 semapv:UnspecifiedMatching +OMIM:604212 PARN skos:exactMatch hgnc.symbol:8609 semapv:UnspecifiedMatching +OMIM:604212 PARN skos:exactMatch hgnc.symbol:PARN semapv:UnspecifiedMatching +OMIM:604212 PARN skos:exactMatch ncbigene:5073 semapv:UnspecifiedMatching +OMIM:604213 chudley-mccullough syndrome skos:exactMatch MONDO:0011411 semapv:UnspecifiedMatching +OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:1573 semapv:UnspecifiedMatching +OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:KRIT1 semapv:UnspecifiedMatching +OMIM:604214 KRIT1 skos:exactMatch ncbigene:889 semapv:UnspecifiedMatching +OMIM:604215 ING2 skos:exactMatch hgnc.symbol:6063 semapv:UnspecifiedMatching +OMIM:604215 ING2 skos:exactMatch hgnc.symbol:ING2 semapv:UnspecifiedMatching +OMIM:604215 ING2 skos:exactMatch ncbigene:3622 semapv:UnspecifiedMatching +OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:10932 semapv:UnspecifiedMatching +OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:SLC17A4 semapv:UnspecifiedMatching +OMIM:604216 SLC17A4 skos:exactMatch ncbigene:10050 semapv:UnspecifiedMatching +OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:11020 semapv:UnspecifiedMatching +OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:SLC34A2 semapv:UnspecifiedMatching +OMIM:604217 SLC34A2 skos:exactMatch ncbigene:10568 semapv:UnspecifiedMatching +OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies skos:exactMatch MONDO:0011412 semapv:UnspecifiedMatching +OMIM:604219 cataract 9, multiple types skos:exactMatch MONDO:0011413 semapv:UnspecifiedMatching +OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:703 semapv:UnspecifiedMatching +OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:ARPC1A semapv:UnspecifiedMatching +OMIM:604220 ARPC1A skos:exactMatch ncbigene:10552 semapv:UnspecifiedMatching +OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:169 semapv:UnspecifiedMatching +OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:ACTR2 semapv:UnspecifiedMatching +OMIM:604221 ACTR2 skos:exactMatch ncbigene:10097 semapv:UnspecifiedMatching +OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:170 semapv:UnspecifiedMatching +OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:ACTR3 semapv:UnspecifiedMatching +OMIM:604222 ACTR3 skos:exactMatch ncbigene:10096 semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch UMLS:C1412546 semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:704 semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:ARPC1B semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch ncbigene:10095 semapv:UnspecifiedMatching +OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:705 semapv:UnspecifiedMatching +OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:ARPC2 semapv:UnspecifiedMatching +OMIM:604224 ARPC2 skos:exactMatch ncbigene:10109 semapv:UnspecifiedMatching +OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:706 semapv:UnspecifiedMatching +OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:ARPC3 semapv:UnspecifiedMatching +OMIM:604225 ARPC3 skos:exactMatch ncbigene:10094 semapv:UnspecifiedMatching +OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:707 semapv:UnspecifiedMatching +OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:ARPC4 semapv:UnspecifiedMatching +OMIM:604226 ARPC4 skos:exactMatch ncbigene:10093 semapv:UnspecifiedMatching +OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:708 semapv:UnspecifiedMatching +OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:ARPC5 semapv:UnspecifiedMatching +OMIM:604227 ARPC5 skos:exactMatch ncbigene:10092 semapv:UnspecifiedMatching +OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch MONDO:0011414 semapv:UnspecifiedMatching +OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch Orphanet:708 semapv:UnspecifiedMatching +OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch UMLS:C4310809 semapv:UnspecifiedMatching +OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:228 semapv:UnspecifiedMatching +OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:ADAT1 semapv:UnspecifiedMatching +OMIM:604230 ADAT1 skos:exactMatch ncbigene:23536 semapv:UnspecifiedMatching +OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:9691 semapv:UnspecifiedMatching +OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:PTTG2 semapv:UnspecifiedMatching +OMIM:604231 PTTG2 skos:exactMatch ncbigene:10744 semapv:UnspecifiedMatching +OMIM:604232 leber congenital amaurosis 3 skos:exactMatch MONDO:0011415 semapv:UnspecifiedMatching +OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch MONDO:0011416 semapv:UnspecifiedMatching +OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching +OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching +OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:6164 semapv:UnspecifiedMatching +OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:ITGBL1 semapv:UnspecifiedMatching +OMIM:604234 ITGBL1 skos:exactMatch ncbigene:9358 semapv:UnspecifiedMatching +OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:11066 semapv:UnspecifiedMatching +OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:SLC7A8 semapv:UnspecifiedMatching +OMIM:604235 SLC7A8 skos:exactMatch ncbigene:23428 semapv:UnspecifiedMatching +OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:2364 semapv:UnspecifiedMatching +OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:CRLF1 semapv:UnspecifiedMatching +OMIM:604237 CRLF1 skos:exactMatch ncbigene:9244 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch UMLS:C1420267 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:11128 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:SNAI1 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch ncbigene:6615 semapv:UnspecifiedMatching +OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:9578 semapv:UnspecifiedMatching +OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:PSPHP1 semapv:UnspecifiedMatching +OMIM:604239 PSPHL skos:exactMatch ncbigene:8781 semapv:UnspecifiedMatching +OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:5057 semapv:UnspecifiedMatching +OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:TLX2 semapv:UnspecifiedMatching +OMIM:604240 TLX2 skos:exactMatch ncbigene:3196 semapv:UnspecifiedMatching +OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:14258 semapv:UnspecifiedMatching +OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:CD2AP semapv:UnspecifiedMatching +OMIM:604241 CD2AP skos:exactMatch ncbigene:23607 semapv:UnspecifiedMatching +OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:10069 semapv:UnspecifiedMatching +OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:RNF6 semapv:UnspecifiedMatching +OMIM:604242 RNF6 skos:exactMatch ncbigene:6049 semapv:UnspecifiedMatching +OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:10469 semapv:UnspecifiedMatching +OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:RTN3 semapv:UnspecifiedMatching +OMIM:604249 RTN3 skos:exactMatch ncbigene:10313 semapv:UnspecifiedMatching +OMIM:604250 hemochromatosis, iia 3 skos:exactMatch MONDO:0011417 semapv:UnspecifiedMatching +OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:24187 semapv:UnspecifiedMatching +OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:CABIN1 semapv:UnspecifiedMatching +OMIM:604251 calcineurin-binding protein 1 skos:exactMatch ncbigene:23523 semapv:UnspecifiedMatching +OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:933 semapv:UnspecifiedMatching +OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:BACE1 semapv:UnspecifiedMatching +OMIM:604252 BACE1 skos:exactMatch ncbigene:23621 semapv:UnspecifiedMatching +OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:2456 semapv:UnspecifiedMatching +OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:CSNK1G3 semapv:UnspecifiedMatching +OMIM:604253 CSNK1G3 skos:exactMatch ncbigene:1456 semapv:UnspecifiedMatching +OMIM:604254 dyslexia, susceptibility to, 3 skos:exactMatch MONDO:0011418 semapv:UnspecifiedMatching +OMIM:604255 LBX1 skos:exactMatch UMLS:C1825796 semapv:UnspecifiedMatching +OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:16960 semapv:UnspecifiedMatching +OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:LBX1 semapv:UnspecifiedMatching +OMIM:604255 LBX1 skos:exactMatch ncbigene:10660 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch UMLS:C1412793 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:1046 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:BHLHE40 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch ncbigene:8553 semapv:UnspecifiedMatching +OMIM:604257 camera-marugo-cohen syndrome skos:exactMatch MONDO:0011419 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch UMLS:C1366509 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:2897 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:DLC1 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch ncbigene:10395 semapv:UnspecifiedMatching +OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:9106 semapv:UnspecifiedMatching +OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:PLXNC1 semapv:UnspecifiedMatching +OMIM:604259 PLXNC1 skos:exactMatch ncbigene:10154 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch UMLS:C1335876 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:11367 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:STAT5B semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch ncbigene:6777 semapv:UnspecifiedMatching +OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:589 semapv:UnspecifiedMatching +OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:ATG5 semapv:UnspecifiedMatching +OMIM:604261 ATG5 skos:exactMatch ncbigene:9474 semapv:UnspecifiedMatching +OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:580 semapv:UnspecifiedMatching +OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:APBA3 semapv:UnspecifiedMatching +OMIM:604262 APBA3 skos:exactMatch ncbigene:9546 semapv:UnspecifiedMatching +OMIM:604263 PRND skos:exactMatch hgnc.symbol:15748 semapv:UnspecifiedMatching +OMIM:604263 PRND skos:exactMatch hgnc.symbol:PRND semapv:UnspecifiedMatching +OMIM:604263 PRND skos:exactMatch ncbigene:23627 semapv:UnspecifiedMatching +OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:3230 semapv:UnspecifiedMatching +OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:CELSR3 semapv:UnspecifiedMatching +OMIM:604264 CELSR3 skos:exactMatch ncbigene:1951 semapv:UnspecifiedMatching +OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:3231 semapv:UnspecifiedMatching +OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:CELSR2 semapv:UnspecifiedMatching +OMIM:604265 CELSR2 skos:exactMatch ncbigene:1952 semapv:UnspecifiedMatching +OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:3232 semapv:UnspecifiedMatching +OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:MEGF6 semapv:UnspecifiedMatching +OMIM:604266 MEGF6 skos:exactMatch ncbigene:1953 semapv:UnspecifiedMatching +OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:3233 semapv:UnspecifiedMatching +OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:MEGF8 semapv:UnspecifiedMatching +OMIM:604267 MEGF8 skos:exactMatch ncbigene:1954 semapv:UnspecifiedMatching +OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:3234 semapv:UnspecifiedMatching +OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:MEGF9 semapv:UnspecifiedMatching +OMIM:604268 MEGF9 skos:exactMatch ncbigene:1955 semapv:UnspecifiedMatching +OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:3596 semapv:UnspecifiedMatching +OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:FAT2 semapv:UnspecifiedMatching +OMIM:604269 FAT2 skos:exactMatch ncbigene:2196 semapv:UnspecifiedMatching +OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:6696 semapv:UnspecifiedMatching +OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:LRP4 semapv:UnspecifiedMatching +OMIM:604270 LRP4 skos:exactMatch ncbigene:4038 semapv:UnspecifiedMatching +OMIM:604271 growth hormone insensitivity, partial skos:exactMatch MONDO:0011420 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch UMLS:C1419873 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch UMLS:C1837148 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:10604 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:SCO2 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch ncbigene:9997 semapv:UnspecifiedMatching +OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 1 skos:exactMatch MONDO:0011421 semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch UMLS:C1334309 semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:6372 semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:KLRA1P semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch ncbigene:10748 semapv:UnspecifiedMatching +OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:2516 semapv:UnspecifiedMatching +OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:CTNND2 semapv:UnspecifiedMatching +OMIM:604275 CTNND2 skos:exactMatch ncbigene:1501 semapv:UnspecifiedMatching +OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:9026 semapv:UnspecifiedMatching +OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:PKP4 semapv:UnspecifiedMatching +OMIM:604276 PKP4 skos:exactMatch ncbigene:8502 semapv:UnspecifiedMatching +OMIM:604277 SPAST skos:exactMatch hgnc.symbol:11233 semapv:UnspecifiedMatching +OMIM:604277 SPAST skos:exactMatch hgnc.symbol:SPAST semapv:UnspecifiedMatching +OMIM:604277 SPAST skos:exactMatch ncbigene:6683 semapv:UnspecifiedMatching +OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development skos:exactMatch MONDO:0011422 semapv:UnspecifiedMatching +OMIM:604279 JMY skos:exactMatch hgnc.symbol:28916 semapv:UnspecifiedMatching +OMIM:604279 JMY skos:exactMatch hgnc.symbol:JMY semapv:UnspecifiedMatching +OMIM:604279 JMY skos:exactMatch ncbigene:133746 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch UMLS:C1826602 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:9102 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:PLXNA4 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch ncbigene:91584 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch UMLS:C1332118 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:17364 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:DBF4 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch ncbigene:10926 semapv:UnspecifiedMatching +OMIM:604282 PLXND1 skos:exactMatch UMLS:C1418668 semapv:UnspecifiedMatching +OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:9107 semapv:UnspecifiedMatching +OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:PLXND1 semapv:UnspecifiedMatching +OMIM:604282 PLXND1 skos:exactMatch ncbigene:23129 semapv:UnspecifiedMatching +OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:9364 semapv:UnspecifiedMatching +OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:PRG4 semapv:UnspecifiedMatching +OMIM:604283 PRG4 skos:exactMatch ncbigene:10216 semapv:UnspecifiedMatching +OMIM:604285 AGXT skos:exactMatch hgnc.symbol:341 semapv:UnspecifiedMatching +OMIM:604285 AGXT skos:exactMatch hgnc.symbol:AGXT semapv:UnspecifiedMatching +OMIM:604285 AGXT skos:exactMatch ncbigene:189 semapv:UnspecifiedMatching +OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 skos:exactMatch MONDO:0011423 semapv:UnspecifiedMatching +OMIM:604287 carney triad skos:exactMatch MONDO:0011424 semapv:UnspecifiedMatching +OMIM:604288 cardiomyopathy, dilated, 1h skos:exactMatch MONDO:0011425 semapv:UnspecifiedMatching +OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:17228 semapv:UnspecifiedMatching +OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:RAD54B semapv:UnspecifiedMatching +OMIM:604289 RAD54B skos:exactMatch ncbigene:25788 semapv:UnspecifiedMatching +OMIM:604290 aceruloplasminemia skos:exactMatch MONDO:0011426 semapv:UnspecifiedMatching +OMIM:604291 ascaris lumbricoides infection, susceptibility to skos:exactMatch MONDO:0011427 semapv:UnspecifiedMatching +OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 skos:exactMatch MONDO:0011428 semapv:UnspecifiedMatching +OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:9104 semapv:UnspecifiedMatching +OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:PLXNB2 semapv:UnspecifiedMatching +OMIM:604293 PLXNB2 skos:exactMatch ncbigene:23654 semapv:UnspecifiedMatching +OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:12660 semapv:UnspecifiedMatching +OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:VAX1 semapv:UnspecifiedMatching +OMIM:604294 VAX1 skos:exactMatch ncbigene:11023 semapv:UnspecifiedMatching +OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:12661 semapv:UnspecifiedMatching +OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:VAX2 semapv:UnspecifiedMatching +OMIM:604295 VAX2 skos:exactMatch ncbigene:25806 semapv:UnspecifiedMatching +OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:4570 semapv:UnspecifiedMatching +OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:GRHPR semapv:UnspecifiedMatching +OMIM:604296 GRHPR skos:exactMatch ncbigene:9380 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch UMLS:C1420552 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch UMLS:C3809824 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:11503 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:SYNJ1 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch ncbigene:8867 semapv:UnspecifiedMatching +OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:24133 semapv:UnspecifiedMatching +OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:STAP1 semapv:UnspecifiedMatching +OMIM:604298 STAP1 skos:exactMatch ncbigene:26228 semapv:UnspecifiedMatching +OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:24035 semapv:UnspecifiedMatching +OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:APPL1 semapv:UnspecifiedMatching +OMIM:604299 APPL1 skos:exactMatch ncbigene:26060 semapv:UnspecifiedMatching +OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:17856 semapv:UnspecifiedMatching +OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:HACL1 semapv:UnspecifiedMatching +OMIM:604300 HACL1 skos:exactMatch ncbigene:26061 semapv:UnspecifiedMatching +OMIM:604301 oculomedin skos:exactMatch UMLS:C1417927 semapv:UnspecifiedMatching +OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch MONDO:0011429 semapv:UnspecifiedMatching +OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching +OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch UMLS:C1858558 semapv:UnspecifiedMatching +OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:161 semapv:UnspecifiedMatching +OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:ACTL7A semapv:UnspecifiedMatching +OMIM:604303 ACTL7A skos:exactMatch ncbigene:10881 semapv:UnspecifiedMatching +OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:162 semapv:UnspecifiedMatching +OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:ACTL7B semapv:UnspecifiedMatching +OMIM:604304 ACTL7B skos:exactMatch ncbigene:10880 semapv:UnspecifiedMatching +OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:4944 semapv:UnspecifiedMatching +OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:HLA-DQB1 semapv:UnspecifiedMatching +OMIM:604305 HLA-DQB1 skos:exactMatch ncbigene:3119 semapv:UnspecifiedMatching +OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:17067 semapv:UnspecifiedMatching +OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:FAIM2 semapv:UnspecifiedMatching +OMIM:604306 FAIM2 skos:exactMatch ncbigene:23017 semapv:UnspecifiedMatching +OMIM:604307 cataract 2, multiple types skos:exactMatch MONDO:0100436 semapv:UnspecifiedMatching +OMIM:604308 mass syndrome skos:exactMatch MONDO:0011431 semapv:UnspecifiedMatching +OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:15827 semapv:UnspecifiedMatching +OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:SLC13A4 semapv:UnspecifiedMatching +OMIM:604309 SLC13A4 skos:exactMatch ncbigene:26266 semapv:UnspecifiedMatching +OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:8549 semapv:UnspecifiedMatching +OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:BLOC1S6 semapv:UnspecifiedMatching +OMIM:604310 BLOC1S6 skos:exactMatch ncbigene:26258 semapv:UnspecifiedMatching +OMIM:604311 MED1 skos:exactMatch hgnc.symbol:9234 semapv:UnspecifiedMatching +OMIM:604311 MED1 skos:exactMatch hgnc.symbol:MED1 semapv:UnspecifiedMatching +OMIM:604311 MED1 skos:exactMatch ncbigene:5469 semapv:UnspecifiedMatching +OMIM:604312 CST3 skos:exactMatch hgnc.symbol:2475 semapv:UnspecifiedMatching +OMIM:604312 CST3 skos:exactMatch hgnc.symbol:CST3 semapv:UnspecifiedMatching +OMIM:604312 CST3 skos:exactMatch ncbigene:1471 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch UMLS:C1414948 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:4118 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:GALK1 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch ncbigene:2584 semapv:UnspecifiedMatching +OMIM:604314 blepharophimosis with facial and genital anomalies and impaired intellectual development skos:exactMatch MONDO:0011432 semapv:UnspecifiedMatching +OMIM:604315 anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome skos:exactMatch MONDO:0011433 semapv:UnspecifiedMatching +OMIM:604316 psoriasis 5, susceptibility to skos:exactMatch MONDO:0011434 semapv:UnspecifiedMatching +OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch MONDO:0011435 semapv:UnspecifiedMatching +OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:4661 semapv:UnspecifiedMatching +OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:GTF2IRD1 semapv:UnspecifiedMatching +OMIM:604318 GTF2IRD1 skos:exactMatch ncbigene:9569 semapv:UnspecifiedMatching +OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:11824 semapv:UnspecifiedMatching +OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:TINF2 semapv:UnspecifiedMatching +OMIM:604319 TINF2 skos:exactMatch ncbigene:26277 semapv:UnspecifiedMatching +OMIM:604320 neuronopathy, distal hereditary motor, autosomal recessive 1 skos:exactMatch MONDO:0011436 semapv:UnspecifiedMatching +OMIM:604321 microcephaly 4, primary, autosomal recessive skos:exactMatch MONDO:0011437 semapv:UnspecifiedMatching +OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:10933 semapv:UnspecifiedMatching +OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:SLC17A5 semapv:UnspecifiedMatching +OMIM:604322 SLC17A5 skos:exactMatch ncbigene:26503 semapv:UnspecifiedMatching +OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:54 semapv:UnspecifiedMatching +OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:ABCC3 semapv:UnspecifiedMatching +OMIM:604323 ABCC3 skos:exactMatch ncbigene:8714 semapv:UnspecifiedMatching +OMIM:604324 acne, adult skos:exactMatch MONDO:0100486 semapv:UnspecifiedMatching +OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:9305 semapv:UnspecifiedMatching +OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:PPP2R2B semapv:UnspecifiedMatching +OMIM:604325 PPP2R2B skos:exactMatch ncbigene:5521 semapv:UnspecifiedMatching +OMIM:604326 spinocerebellar ataxia 12 skos:exactMatch MONDO:0011439 semapv:UnspecifiedMatching +OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:930 semapv:UnspecifiedMatching +OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:B4GALT7 semapv:UnspecifiedMatching +OMIM:604327 B4GALT7 skos:exactMatch ncbigene:11285 semapv:UnspecifiedMatching +OMIM:604328 SSRP1 skos:exactMatch UMLS:C1420432 semapv:UnspecifiedMatching +OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:11327 semapv:UnspecifiedMatching +OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:SSRP1 semapv:UnspecifiedMatching +OMIM:604328 SSRP1 skos:exactMatch ncbigene:6749 semapv:UnspecifiedMatching +OMIM:604329 hypertension, essential, susceptibility to, 2 skos:exactMatch MONDO:0011440 semapv:UnspecifiedMatching +OMIM:604330 GRAP skos:exactMatch hgnc.symbol:4562 semapv:UnspecifiedMatching +OMIM:604330 GRAP skos:exactMatch hgnc.symbol:GRAP semapv:UnspecifiedMatching +OMIM:604330 GRAP skos:exactMatch ncbigene:10750 semapv:UnspecifiedMatching +OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:14879 semapv:UnspecifiedMatching +OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:INTS6 semapv:UnspecifiedMatching +OMIM:604331 INTS6 skos:exactMatch ncbigene:26512 semapv:UnspecifiedMatching +OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:1935 semapv:UnspecifiedMatching +OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:CHIC2 semapv:UnspecifiedMatching +OMIM:604332 CHIC2 skos:exactMatch ncbigene:26511 semapv:UnspecifiedMatching +OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:14280 semapv:UnspecifiedMatching +OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:CIAO1 semapv:UnspecifiedMatching +OMIM:604333 CIAO1 skos:exactMatch ncbigene:9391 semapv:UnspecifiedMatching +OMIM:604334 USP6 skos:exactMatch hgnc.symbol:12629 semapv:UnspecifiedMatching +OMIM:604334 USP6 skos:exactMatch hgnc.symbol:USP6 semapv:UnspecifiedMatching +OMIM:604334 USP6 skos:exactMatch ncbigene:9098 semapv:UnspecifiedMatching +OMIM:604335 reflex sympathetic dystrophy skos:exactMatch MONDO:0011441 semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch UMLS:C1420883 semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch hgnc.symbol:12023 semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch hgnc.symbol:TPTE semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch ncbigene:7179 semapv:UnspecifiedMatching +OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:2017 semapv:UnspecifiedMatching +OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:CLCA3P semapv:UnspecifiedMatching +OMIM:604337 CLCA3P skos:exactMatch ncbigene:9629 semapv:UnspecifiedMatching +OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:6821 semapv:UnspecifiedMatching +OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:MAN1A1 semapv:UnspecifiedMatching +OMIM:604344 MAN1A1 skos:exactMatch ncbigene:4121 semapv:UnspecifiedMatching +OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:6822 semapv:UnspecifiedMatching +OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:MAN1A2 semapv:UnspecifiedMatching +OMIM:604345 MAN1A2 skos:exactMatch ncbigene:10905 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch UMLS:C1416994 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:6823 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:MAN1B1 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch ncbigene:11253 semapv:UnspecifiedMatching +OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:13058 semapv:UnspecifiedMatching +OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:ZRANB2 semapv:UnspecifiedMatching +OMIM:604347 ZRANB2 skos:exactMatch ncbigene:9406 semapv:UnspecifiedMatching +OMIM:604348 advanced sleep phase syndrome, familial, 1 skos:exactMatch MONDO:0011442 semapv:UnspecifiedMatching +OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:6494 semapv:UnspecifiedMatching +OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:LAMC3 semapv:UnspecifiedMatching +OMIM:604349 LAMC3 skos:exactMatch ncbigene:10319 semapv:UnspecifiedMatching +OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:9779 semapv:UnspecifiedMatching +OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:RAB3D semapv:UnspecifiedMatching +OMIM:604350 RAB3D skos:exactMatch ncbigene:9545 semapv:UnspecifiedMatching +OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:8920 semapv:UnspecifiedMatching +OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:PHF2 semapv:UnspecifiedMatching +OMIM:604351 PHF2 skos:exactMatch ncbigene:5253 semapv:UnspecifiedMatching +OMIM:604352 febrile seizures, familial, 4 skos:exactMatch MONDO:0011443 semapv:UnspecifiedMatching +OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:14525 semapv:UnspecifiedMatching +OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:CHORDC1 semapv:UnspecifiedMatching +OMIM:604353 CHORDC1 skos:exactMatch ncbigene:26973 semapv:UnspecifiedMatching +OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:8057 semapv:UnspecifiedMatching +OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:NUFIP1 semapv:UnspecifiedMatching +OMIM:604354 NUFIP1 skos:exactMatch ncbigene:26747 semapv:UnspecifiedMatching +OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:2237 semapv:UnspecifiedMatching +OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:COPG2 semapv:UnspecifiedMatching +OMIM:604355 COPG2 skos:exactMatch ncbigene:26958 semapv:UnspecifiedMatching +OMIM:604356 duane retraction syndrome 2 skos:exactMatch MONDO:0011444 semapv:UnspecifiedMatching +OMIM:604356 duane retraction syndrome 2 skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching +OMIM:604356 duane retraction syndrome 2 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching +OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:6758 semapv:UnspecifiedMatching +OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:MAB21L2 semapv:UnspecifiedMatching +OMIM:604357 MAB21L2 skos:exactMatch ncbigene:10586 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch UMLS:C1420448 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch UMLS:C4539951 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:11354 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:STAG1 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch ncbigene:10274 semapv:UnspecifiedMatching +OMIM:604360 spastic paraplegia 11, autosomal recessive skos:exactMatch MONDO:0011445 semapv:UnspecifiedMatching +OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:6646 semapv:UnspecifiedMatching +OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:LMO7 semapv:UnspecifiedMatching +OMIM:604362 LMO7 skos:exactMatch ncbigene:4008 semapv:UnspecifiedMatching +OMIM:604363 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch MONDO:0011446 semapv:UnspecifiedMatching +OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch MONDO:0024556 semapv:UnspecifiedMatching +OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching +OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C1858477 semapv:UnspecifiedMatching +OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C4551983 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch UMLS:C0339512 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch UMLS:C1418946 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch UMLS:C2677516 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:9454 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:PROM1 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch ncbigene:8842 semapv:UnspecifiedMatching +OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:2954 semapv:UnspecifiedMatching +OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:DNAI1 semapv:UnspecifiedMatching +OMIM:604366 DNAI1 skos:exactMatch ncbigene:27019 semapv:UnspecifiedMatching +OMIM:604367 lipodystrophy, familial partial, iia 3 skos:exactMatch MONDO:0011448 semapv:UnspecifiedMatching +OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:4462 semapv:UnspecifiedMatching +OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:GPNMB semapv:UnspecifiedMatching +OMIM:604368 GPNMB skos:exactMatch ncbigene:10457 semapv:UnspecifiedMatching +OMIM:604369 salla disease skos:exactMatch MONDO:0011449 semapv:UnspecifiedMatching +OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch MONDO:0011450 semapv:UnspecifiedMatching +OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:4905 semapv:UnspecifiedMatching +OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:HHLA2 semapv:UnspecifiedMatching +OMIM:604371 HHLA2 skos:exactMatch ncbigene:11148 semapv:UnspecifiedMatching +OMIM:604372 HHLA3 skos:exactMatch hgnc.symbol:ANKRD13C-DT semapv:UnspecifiedMatching +OMIM:604372 HHLA3 skos:exactMatch ncbigene:11147 semapv:UnspecifiedMatching +OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:16627 semapv:UnspecifiedMatching +OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:CHEK2 semapv:UnspecifiedMatching +OMIM:604373 CHEK2 skos:exactMatch ncbigene:11200 semapv:UnspecifiedMatching +OMIM:604374 MTL5 skos:exactMatch hgnc.symbol:7446 semapv:UnspecifiedMatching +OMIM:604374 MTL5 skos:exactMatch hgnc.symbol:TESMIN semapv:UnspecifiedMatching +OMIM:604374 MTL5 skos:exactMatch ncbigene:9633 semapv:UnspecifiedMatching +OMIM:604375 HGS skos:exactMatch hgnc.symbol:4897 semapv:UnspecifiedMatching +OMIM:604375 HGS skos:exactMatch hgnc.symbol:HGS semapv:UnspecifiedMatching +OMIM:604375 HGS skos:exactMatch ncbigene:9146 semapv:UnspecifiedMatching +OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:7226 semapv:UnspecifiedMatching +OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:MPZL1 semapv:UnspecifiedMatching +OMIM:604376 MPZL1 skos:exactMatch ncbigene:9019 semapv:UnspecifiedMatching +OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch MONDO:0011451 semapv:UnspecifiedMatching +OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching +OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C1858424 semapv:UnspecifiedMatching +OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching +OMIM:604378 BECN1 skos:exactMatch UMLS:C1412785 semapv:UnspecifiedMatching +OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:1034 semapv:UnspecifiedMatching +OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:BECN1 semapv:UnspecifiedMatching +OMIM:604378 BECN1 skos:exactMatch ncbigene:8678 semapv:UnspecifiedMatching +OMIM:604379 hypotrichosis 7 skos:exactMatch MONDO:0011452 semapv:UnspecifiedMatching +OMIM:604380 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch MONDO:0011453 semapv:UnspecifiedMatching +OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies skos:exactMatch MONDO:0011454 semapv:UnspecifiedMatching +OMIM:604382 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch MONDO:0011455 semapv:UnspecifiedMatching +OMIM:604383 GFI1B skos:exactMatch hgnc.symbol:4238 semapv:UnspecifiedMatching +OMIM:604383 GFI1B skos:exactMatch hgnc.symbol:GFI1B semapv:UnspecifiedMatching +OMIM:604383 GFI1B skos:exactMatch ncbigene:8328 semapv:UnspecifiedMatching +OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:13211 semapv:UnspecifiedMatching +OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:ATP2C1 semapv:UnspecifiedMatching +OMIM:604384 ATP2C1 skos:exactMatch ncbigene:27032 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch UMLS:C1419854 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch UMLS:C3809882 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch UMLS:C3809899 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:10583 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:SCN11A semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch ncbigene:11280 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch UMLS:C1421175 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:12340 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:TRPS1 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch ncbigene:7227 semapv:UnspecifiedMatching +OMIM:604387 nephronophthisis 3 skos:exactMatch MONDO:0011456 semapv:UnspecifiedMatching +OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:4407 semapv:UnspecifiedMatching +OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:GNG4 semapv:UnspecifiedMatching +OMIM:604388 GNG4 skos:exactMatch ncbigene:2786 semapv:UnspecifiedMatching +OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:4402 semapv:UnspecifiedMatching +OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:GNG10 semapv:UnspecifiedMatching +OMIM:604389 GNG10 skos:exactMatch ncbigene:2790 semapv:UnspecifiedMatching +OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:4403 semapv:UnspecifiedMatching +OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:GNG11 semapv:UnspecifiedMatching +OMIM:604390 GNG11 skos:exactMatch ncbigene:2791 semapv:UnspecifiedMatching +OMIM:604391 ataxia-telangiectasia-like disorder 1 skos:exactMatch MONDO:0024557 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch UMLS:C1412303 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751763 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751764 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:359 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:AIPL1 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch ncbigene:23746 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch MONDO:0011458 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching +OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:4380 semapv:UnspecifiedMatching +OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:GNA12 semapv:UnspecifiedMatching +OMIM:604394 GNA12 skos:exactMatch ncbigene:2768 semapv:UnspecifiedMatching +OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:7128 semapv:UnspecifiedMatching +OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:MLH3 semapv:UnspecifiedMatching +OMIM:604395 MLH3 skos:exactMatch ncbigene:27030 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch UMLS:C1335812 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:10761 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:SETDB1 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch ncbigene:9869 semapv:UnspecifiedMatching +OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:4382 semapv:UnspecifiedMatching +OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:GNA14 semapv:UnspecifiedMatching +OMIM:604397 GNA14 skos:exactMatch ncbigene:9630 semapv:UnspecifiedMatching +OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:7051 semapv:UnspecifiedMatching +OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:SCGB2A1 semapv:UnspecifiedMatching +OMIM:604398 SCGB2A1 skos:exactMatch ncbigene:4246 semapv:UnspecifiedMatching +OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:9287 semapv:UnspecifiedMatching +OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:PPP1R1B semapv:UnspecifiedMatching +OMIM:604399 PPP1R1B skos:exactMatch ncbigene:84152 semapv:UnspecifiedMatching +OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 skos:exactMatch MONDO:0011459 semapv:UnspecifiedMatching +OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 skos:exactMatch MONDO:0011460 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1539863 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:10872 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:ST3GAL5 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch ncbigene:8869 semapv:UnspecifiedMatching +OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch MONDO:0011461 semapv:UnspecifiedMatching +OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching +OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching +OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching +OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:4454 semapv:UnspecifiedMatching +OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:GPC6 semapv:UnspecifiedMatching +OMIM:604404 GPC6 skos:exactMatch ncbigene:10082 semapv:UnspecifiedMatching +OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:10875 semapv:UnspecifiedMatching +OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:SIGLEC6 semapv:UnspecifiedMatching +OMIM:604405 SIGLEC6 skos:exactMatch ncbigene:946 semapv:UnspecifiedMatching +OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:4381 semapv:UnspecifiedMatching +OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:GNA13 semapv:UnspecifiedMatching +OMIM:604406 GNA13 skos:exactMatch ncbigene:10672 semapv:UnspecifiedMatching +OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:6556 semapv:UnspecifiedMatching +OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:LETM1 semapv:UnspecifiedMatching +OMIM:604407 LETM1 skos:exactMatch ncbigene:3954 semapv:UnspecifiedMatching +OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:4370 semapv:UnspecifiedMatching +OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:GMEB1 semapv:UnspecifiedMatching +OMIM:604409 GMEB1 skos:exactMatch ncbigene:10691 semapv:UnspecifiedMatching +OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:10876 semapv:UnspecifiedMatching +OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:SIGLEC7 semapv:UnspecifiedMatching +OMIM:604410 SIGLEC7 skos:exactMatch ncbigene:27036 semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch UMLS:C1416432 semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch hgnc.symbol:6058 semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch hgnc.symbol:INCENP semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch ncbigene:3619 semapv:UnspecifiedMatching +OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:13463 semapv:UnspecifiedMatching +OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:TCL6 semapv:UnspecifiedMatching +OMIM:604412 TCL6 skos:exactMatch ncbigene:27004 semapv:UnspecifiedMatching +OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:9193 semapv:UnspecifiedMatching +OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:POLR2F semapv:UnspecifiedMatching +OMIM:604414 POLR2F skos:exactMatch ncbigene:5435 semapv:UnspecifiedMatching +OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:11378 semapv:UnspecifiedMatching +OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:STEAP1 semapv:UnspecifiedMatching +OMIM:604415 STEAP1 skos:exactMatch ncbigene:26872 semapv:UnspecifiedMatching +OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne skos:exactMatch MONDO:0011462 semapv:UnspecifiedMatching +OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:17869 semapv:UnspecifiedMatching +OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:AFF4 semapv:UnspecifiedMatching +OMIM:604417 AFF4 skos:exactMatch ncbigene:27125 semapv:UnspecifiedMatching +OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:4288 semapv:UnspecifiedMatching +OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:GJB6 semapv:UnspecifiedMatching +OMIM:604418 GJB6 skos:exactMatch ncbigene:10804 semapv:UnspecifiedMatching +OMIM:604419 POLQ skos:exactMatch hgnc.symbol:9186 semapv:UnspecifiedMatching +OMIM:604419 POLQ skos:exactMatch hgnc.symbol:POLQ semapv:UnspecifiedMatching +OMIM:604419 POLQ skos:exactMatch ncbigene:10721 semapv:UnspecifiedMatching +OMIM:604420 HHEX skos:exactMatch hgnc.symbol:4901 semapv:UnspecifiedMatching +OMIM:604420 HHEX skos:exactMatch hgnc.symbol:HHEX semapv:UnspecifiedMatching +OMIM:604420 HHEX skos:exactMatch ncbigene:3087 semapv:UnspecifiedMatching +OMIM:604421 PDCL skos:exactMatch hgnc.symbol:8770 semapv:UnspecifiedMatching +OMIM:604421 PDCL skos:exactMatch hgnc.symbol:PDCL semapv:UnspecifiedMatching +OMIM:604421 PDCL skos:exactMatch ncbigene:5082 semapv:UnspecifiedMatching +OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:9156 semapv:UnspecifiedMatching +OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:PNLIPRP1 semapv:UnspecifiedMatching +OMIM:604422 PNLIPRP1 skos:exactMatch ncbigene:5407 semapv:UnspecifiedMatching +OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:9157 semapv:UnspecifiedMatching +OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:PNLIPRP2 semapv:UnspecifiedMatching +OMIM:604423 PNLIPRP2 skos:exactMatch ncbigene:5408 semapv:UnspecifiedMatching +OMIM:604424 HIPK3 skos:exactMatch hgnc.symbol:4915 semapv:UnspecifiedMatching +OMIM:604424 HIPK3 skos:exactMatch hgnc.symbol:HIPK3 semapv:UnspecifiedMatching +OMIM:604424 HIPK3 skos:exactMatch ncbigene:10114 semapv:UnspecifiedMatching +OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:28838 semapv:UnspecifiedMatching +OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:LHX8 semapv:UnspecifiedMatching +OMIM:604425 LHX8 skos:exactMatch ncbigene:431707 semapv:UnspecifiedMatching +OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:2645 semapv:UnspecifiedMatching +OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:CYP4F2 semapv:UnspecifiedMatching +OMIM:604426 CYP4F2 skos:exactMatch ncbigene:8529 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch UMLS:C1419853 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch UMLS:C3809893 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:10582 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:SCN10A semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch ncbigene:6336 semapv:UnspecifiedMatching +OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:9470 semapv:UnspecifiedMatching +OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:PRRG2 semapv:UnspecifiedMatching +OMIM:604429 PRRG2 skos:exactMatch ncbigene:5639 semapv:UnspecifiedMatching +OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:4410 semapv:UnspecifiedMatching +OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:GNG7 semapv:UnspecifiedMatching +OMIM:604430 GNG7 skos:exactMatch ncbigene:2788 semapv:UnspecifiedMatching +OMIM:604431 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch MONDO:0011463 semapv:UnspecifiedMatching +OMIM:604432 spinocerebellar ataxia 11 skos:exactMatch MONDO:0011464 semapv:UnspecifiedMatching +OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:6243 semapv:UnspecifiedMatching +OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:KCNE3 semapv:UnspecifiedMatching +OMIM:604433 KCNE3 skos:exactMatch ncbigene:10008 semapv:UnspecifiedMatching +OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:6359 semapv:UnspecifiedMatching +OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:KLK11 semapv:UnspecifiedMatching +OMIM:604434 KLK11 skos:exactMatch ncbigene:11012 semapv:UnspecifiedMatching +OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:9457 semapv:UnspecifiedMatching +OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:PLPBP semapv:UnspecifiedMatching +OMIM:604436 PLPBP skos:exactMatch ncbigene:11212 semapv:UnspecifiedMatching +OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:18044 semapv:UnspecifiedMatching +OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:SLC38A3 semapv:UnspecifiedMatching +OMIM:604437 SLC38A3 skos:exactMatch ncbigene:10991 semapv:UnspecifiedMatching +OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:6368 semapv:UnspecifiedMatching +OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:KLK7 semapv:UnspecifiedMatching +OMIM:604438 KLK7 skos:exactMatch ncbigene:5650 semapv:UnspecifiedMatching +OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:4066 semapv:UnspecifiedMatching +OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:GAB1 semapv:UnspecifiedMatching +OMIM:604439 GAB1 skos:exactMatch ncbigene:2549 semapv:UnspecifiedMatching +OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:1976 semapv:UnspecifiedMatching +OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:CIDEA semapv:UnspecifiedMatching +OMIM:604440 CIDEA skos:exactMatch ncbigene:1149 semapv:UnspecifiedMatching +OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:1977 semapv:UnspecifiedMatching +OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:CIDEB semapv:UnspecifiedMatching +OMIM:604441 CIDEB skos:exactMatch ncbigene:27141 semapv:UnspecifiedMatching +OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:16496 semapv:UnspecifiedMatching +OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:ACSL6 semapv:UnspecifiedMatching +OMIM:604443 ACSL6 skos:exactMatch ncbigene:23305 semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch UMLS:C1428947 semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:30251 semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:BAMBI semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch ncbigene:25805 semapv:UnspecifiedMatching +OMIM:604445 PI13 skos:exactMatch hgnc.symbol:8944 semapv:UnspecifiedMatching +OMIM:604445 PI13 skos:exactMatch hgnc.symbol:SERPINB13 semapv:UnspecifiedMatching +OMIM:604445 PI13 skos:exactMatch ncbigene:5275 semapv:UnspecifiedMatching +OMIM:604446 PTER skos:exactMatch hgnc.symbol:9590 semapv:UnspecifiedMatching +OMIM:604446 PTER skos:exactMatch hgnc.symbol:PTER semapv:UnspecifiedMatching +OMIM:604446 PTER skos:exactMatch ncbigene:9317 semapv:UnspecifiedMatching +OMIM:604447 GNB5 skos:exactMatch hgnc.symbol:4401 semapv:UnspecifiedMatching +OMIM:604447 GNB5 skos:exactMatch hgnc.symbol:GNB5 semapv:UnspecifiedMatching +OMIM:604447 GNB5 skos:exactMatch ncbigene:10681 semapv:UnspecifiedMatching +OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:9506 semapv:UnspecifiedMatching +OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:CYTIP semapv:UnspecifiedMatching +OMIM:604448 CYTIP skos:exactMatch ncbigene:9595 semapv:UnspecifiedMatching +OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:9556 semapv:UnspecifiedMatching +OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:PSMD11 semapv:UnspecifiedMatching +OMIM:604449 PSMD11 skos:exactMatch ncbigene:5717 semapv:UnspecifiedMatching +OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:9557 semapv:UnspecifiedMatching +OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:PSMD12 semapv:UnspecifiedMatching +OMIM:604450 PSMD12 skos:exactMatch ncbigene:5718 semapv:UnspecifiedMatching +OMIM:604451 basal cell carcinoma, infundibulocystic skos:exactMatch MONDO:0011465 semapv:UnspecifiedMatching +OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:9563 semapv:UnspecifiedMatching +OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:PSMD5 semapv:UnspecifiedMatching +OMIM:604452 PSMD5 skos:exactMatch ncbigene:5711 semapv:UnspecifiedMatching +OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:7984 semapv:UnspecifiedMatching +OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:NR5A2 semapv:UnspecifiedMatching +OMIM:604453 NR5A2 skos:exactMatch ncbigene:2494 semapv:UnspecifiedMatching +OMIM:604454 welander distal myopathy skos:exactMatch MONDO:0011466 semapv:UnspecifiedMatching +OMIM:604455 SARDH skos:exactMatch hgnc.symbol:10536 semapv:UnspecifiedMatching +OMIM:604455 SARDH skos:exactMatch hgnc.symbol:SARDH semapv:UnspecifiedMatching +OMIM:604455 SARDH skos:exactMatch ncbigene:1757 semapv:UnspecifiedMatching +OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:5412 semapv:UnspecifiedMatching +OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:IFITM1 semapv:UnspecifiedMatching +OMIM:604456 IFITM1 skos:exactMatch ncbigene:8519 semapv:UnspecifiedMatching +OMIM:604457 SP110 skos:exactMatch hgnc.symbol:5401 semapv:UnspecifiedMatching +OMIM:604457 SP110 skos:exactMatch hgnc.symbol:SP110 semapv:UnspecifiedMatching +OMIM:604457 SP110 skos:exactMatch ncbigene:3431 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch UMLS:C1334136 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch UMLS:C4016888 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:17020 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:IRAK3 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch ncbigene:11213 semapv:UnspecifiedMatching +OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:3578 semapv:UnspecifiedMatching +OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:FAF1 semapv:UnspecifiedMatching +OMIM:604460 FAF1 skos:exactMatch ncbigene:11124 semapv:UnspecifiedMatching +OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:5168 semapv:UnspecifiedMatching +OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:HPV6AI1 semapv:UnspecifiedMatching +OMIM:604461 HPV6AI1 skos:exactMatch ncbigene:3259 semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch UMLS:C1419949 semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:10731 semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:SEMA4C semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch ncbigene:54910 semapv:UnspecifiedMatching +OMIM:604463 CD160 skos:exactMatch hgnc.symbol:17013 semapv:UnspecifiedMatching +OMIM:604463 CD160 skos:exactMatch hgnc.symbol:CD160 semapv:UnspecifiedMatching +OMIM:604463 CD160 skos:exactMatch ncbigene:11126 semapv:UnspecifiedMatching +OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:6184 semapv:UnspecifiedMatching +OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:ITSN2 semapv:UnspecifiedMatching +OMIM:604464 ITSN2 skos:exactMatch ncbigene:50618 semapv:UnspecifiedMatching +OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:10831 semapv:UnspecifiedMatching +OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:SH3GL2 semapv:UnspecifiedMatching +OMIM:604465 SH3GL2 skos:exactMatch ncbigene:6456 semapv:UnspecifiedMatching +OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:7030 semapv:UnspecifiedMatching +OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:METTL1 semapv:UnspecifiedMatching +OMIM:604466 METTL1 skos:exactMatch ncbigene:4234 semapv:UnspecifiedMatching +OMIM:604467 MMD skos:exactMatch hgnc.symbol:7153 semapv:UnspecifiedMatching +OMIM:604467 MMD skos:exactMatch hgnc.symbol:MMD semapv:UnspecifiedMatching +OMIM:604467 MMD skos:exactMatch ncbigene:23531 semapv:UnspecifiedMatching +OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:6858 semapv:UnspecifiedMatching +OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:MAP3K6 semapv:UnspecifiedMatching +OMIM:604468 MAP3K6 skos:exactMatch ncbigene:9064 semapv:UnspecifiedMatching +OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:10696 semapv:UnspecifiedMatching +OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:EXOC5 semapv:UnspecifiedMatching +OMIM:604469 EXOC5 skos:exactMatch ncbigene:10640 semapv:UnspecifiedMatching +OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:1656 semapv:UnspecifiedMatching +OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:CD2BP2 semapv:UnspecifiedMatching +OMIM:604470 CD2BP2 skos:exactMatch ncbigene:10421 semapv:UnspecifiedMatching +OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:10945 semapv:UnspecifiedMatching +OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:SLC1A7 semapv:UnspecifiedMatching +OMIM:604471 SLC1A7 skos:exactMatch ncbigene:6512 semapv:UnspecifiedMatching +OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:11928 semapv:UnspecifiedMatching +OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:TNFSF13 semapv:UnspecifiedMatching +OMIM:604472 TNFSF13 skos:exactMatch ncbigene:8741 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch UMLS:C1333711 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch UMLS:C4521563 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:4593 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:GRM1 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch ncbigene:2911 semapv:UnspecifiedMatching +OMIM:604474 human herpesvirus iia 6, integrated skos:exactMatch MONDO:0011467 semapv:UnspecifiedMatching +OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:14085 semapv:UnspecifiedMatching +OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:RTN4 semapv:UnspecifiedMatching +OMIM:604475 RTN4 skos:exactMatch ncbigene:57142 semapv:UnspecifiedMatching +OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:1553 semapv:UnspecifiedMatching +OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:CBX3 semapv:UnspecifiedMatching +OMIM:604477 CBX3 skos:exactMatch ncbigene:11335 semapv:UnspecifiedMatching +OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:1555 semapv:UnspecifiedMatching +OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:CBX5 semapv:UnspecifiedMatching +OMIM:604478 CBX5 skos:exactMatch ncbigene:23468 semapv:UnspecifiedMatching +OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:14929 semapv:UnspecifiedMatching +OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:SIRT1 semapv:UnspecifiedMatching +OMIM:604479 SIRT1 skos:exactMatch ncbigene:23411 semapv:UnspecifiedMatching +OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:10886 semapv:UnspecifiedMatching +OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:SIRT2 semapv:UnspecifiedMatching +OMIM:604480 SIRT2 skos:exactMatch ncbigene:22933 semapv:UnspecifiedMatching +OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:14931 semapv:UnspecifiedMatching +OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:SIRT3 semapv:UnspecifiedMatching +OMIM:604481 SIRT3 skos:exactMatch ncbigene:23410 semapv:UnspecifiedMatching +OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:14932 semapv:UnspecifiedMatching +OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:SIRT4 semapv:UnspecifiedMatching +OMIM:604482 SIRT4 skos:exactMatch ncbigene:23409 semapv:UnspecifiedMatching +OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:14933 semapv:UnspecifiedMatching +OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:SIRT5 semapv:UnspecifiedMatching +OMIM:604483 SIRT5 skos:exactMatch ncbigene:23408 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch MONDO:0011468 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:90117 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch UMLS:C1858338 semapv:UnspecifiedMatching +OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:7974 semapv:UnspecifiedMatching +OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:NR2E3 semapv:UnspecifiedMatching +OMIM:604485 NR2E3 skos:exactMatch ncbigene:10002 semapv:UnspecifiedMatching +OMIM:604486 PPIF skos:exactMatch hgnc.symbol:9259 semapv:UnspecifiedMatching +OMIM:604486 PPIF skos:exactMatch hgnc.symbol:PPIF semapv:UnspecifiedMatching +OMIM:604486 PPIF skos:exactMatch ncbigene:10105 semapv:UnspecifiedMatching +OMIM:604487 OTOG skos:exactMatch hgnc.symbol:8516 semapv:UnspecifiedMatching +OMIM:604487 OTOG skos:exactMatch hgnc.symbol:OTOG semapv:UnspecifiedMatching +OMIM:604487 OTOG skos:exactMatch ncbigene:340990 semapv:UnspecifiedMatching +OMIM:604488 TCAP skos:exactMatch hgnc.symbol:11610 semapv:UnspecifiedMatching +OMIM:604488 TCAP skos:exactMatch hgnc.symbol:TCAP semapv:UnspecifiedMatching +OMIM:604488 TCAP skos:exactMatch ncbigene:8557 semapv:UnspecifiedMatching +OMIM:604489 AMACR skos:exactMatch hgnc.symbol:451 semapv:UnspecifiedMatching +OMIM:604489 AMACR skos:exactMatch hgnc.symbol:AMACR semapv:UnspecifiedMatching +OMIM:604489 AMACR skos:exactMatch ncbigene:23600 semapv:UnspecifiedMatching +OMIM:604490 SACS skos:exactMatch hgnc.symbol:10519 semapv:UnspecifiedMatching +OMIM:604490 SACS skos:exactMatch hgnc.symbol:SACS semapv:UnspecifiedMatching +OMIM:604490 SACS skos:exactMatch ncbigene:26278 semapv:UnspecifiedMatching +OMIM:604491 CBLB skos:exactMatch UMLS:C1332672 semapv:UnspecifiedMatching +OMIM:604491 CBLB skos:exactMatch hgnc.symbol:1542 semapv:UnspecifiedMatching +OMIM:604491 CBLB skos:exactMatch hgnc.symbol:CBLB semapv:UnspecifiedMatching +OMIM:604491 CBLB skos:exactMatch ncbigene:868 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch UMLS:C1336930 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:12669 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:VDAC1 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch ncbigene:7416 semapv:UnspecifiedMatching +OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:4287 semapv:UnspecifiedMatching +OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:GJB5 semapv:UnspecifiedMatching +OMIM:604493 GJB5 skos:exactMatch ncbigene:2709 semapv:UnspecifiedMatching +OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:5988 semapv:UnspecifiedMatching +OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:IL18R1 semapv:UnspecifiedMatching +OMIM:604494 IL18R1 skos:exactMatch ncbigene:8809 semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch UMLS:C1417709 semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:7798 semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:NFKBIB semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch ncbigene:4793 semapv:UnspecifiedMatching +OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:17899 semapv:UnspecifiedMatching +OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:NKIRAS1 semapv:UnspecifiedMatching +OMIM:604496 NKIRAS1 skos:exactMatch ncbigene:28512 semapv:UnspecifiedMatching +OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:17898 semapv:UnspecifiedMatching +OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:NKIRAS2 semapv:UnspecifiedMatching +OMIM:604497 NKIRAS2 skos:exactMatch ncbigene:28511 semapv:UnspecifiedMatching +OMIM:604498 amegakaryocytic thrombocytopenia, congenital, 1 skos:exactMatch MONDO:0800452 semapv:UnspecifiedMatching +OMIM:604499 hyperlipidemia, familial combined, 2 skos:exactMatch MONDO:0011470 semapv:UnspecifiedMatching +OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:12309 semapv:UnspecifiedMatching +OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:ZNHIT3 semapv:UnspecifiedMatching +OMIM:604500 ZNHIT3 skos:exactMatch ncbigene:9326 semapv:UnspecifiedMatching +OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:12310 semapv:UnspecifiedMatching +OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:TRIP4 semapv:UnspecifiedMatching +OMIM:604501 TRIP4 skos:exactMatch ncbigene:9325 semapv:UnspecifiedMatching +OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:12312 semapv:UnspecifiedMatching +OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:HMGN3 semapv:UnspecifiedMatching +OMIM:604502 HMGN3 skos:exactMatch ncbigene:9324 semapv:UnspecifiedMatching +OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:12313 semapv:UnspecifiedMatching +OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:JMJD1C semapv:UnspecifiedMatching +OMIM:604503 JMJD1C skos:exactMatch ncbigene:221037 semapv:UnspecifiedMatching +OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:12304 semapv:UnspecifiedMatching +OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:TRIP10 semapv:UnspecifiedMatching +OMIM:604504 TRIP10 skos:exactMatch ncbigene:9322 semapv:UnspecifiedMatching +OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:12305 semapv:UnspecifiedMatching +OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:TRIP11 semapv:UnspecifiedMatching +OMIM:604505 TRIP11 skos:exactMatch ncbigene:9321 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch UMLS:C1421147 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:12306 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:TRIP12 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch ncbigene:9320 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch UMLS:C1421148 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch UMLS:C4539839 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:12307 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:TRIP13 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch ncbigene:9319 semapv:UnspecifiedMatching +OMIM:604508 COPS2 skos:exactMatch UMLS:C1539124 semapv:UnspecifiedMatching +OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:30747 semapv:UnspecifiedMatching +OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:COPS2 semapv:UnspecifiedMatching +OMIM:604508 COPS2 skos:exactMatch ncbigene:9318 semapv:UnspecifiedMatching +OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:5989 semapv:UnspecifiedMatching +OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:IL18RAP semapv:UnspecifiedMatching +OMIM:604509 IL18RAP skos:exactMatch ncbigene:8807 semapv:UnspecifiedMatching +OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:5323 semapv:UnspecifiedMatching +OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:HYAL4 semapv:UnspecifiedMatching +OMIM:604510 HYAL4 skos:exactMatch ncbigene:23553 semapv:UnspecifiedMatching +OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:1551 semapv:UnspecifiedMatching +OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:CBX1 semapv:UnspecifiedMatching +OMIM:604511 CBX1 skos:exactMatch ncbigene:10951 semapv:UnspecifiedMatching +OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:5999 semapv:UnspecifiedMatching +OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:IL1RL2 semapv:UnspecifiedMatching +OMIM:604512 IL1RL2 skos:exactMatch ncbigene:8808 semapv:UnspecifiedMatching +OMIM:604513 CD84 skos:exactMatch hgnc.symbol:1704 semapv:UnspecifiedMatching +OMIM:604513 CD84 skos:exactMatch hgnc.symbol:CD84 semapv:UnspecifiedMatching +OMIM:604513 CD84 skos:exactMatch ncbigene:8832 semapv:UnspecifiedMatching +OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:10821 semapv:UnspecifiedMatching +OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:SH2D2A semapv:UnspecifiedMatching +OMIM:604514 SH2D2A skos:exactMatch ncbigene:9047 semapv:UnspecifiedMatching +OMIM:604515 BLNK skos:exactMatch hgnc.symbol:14211 semapv:UnspecifiedMatching +OMIM:604515 BLNK skos:exactMatch hgnc.symbol:BLNK semapv:UnspecifiedMatching +OMIM:604515 BLNK skos:exactMatch ncbigene:29760 semapv:UnspecifiedMatching +OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:5949 semapv:UnspecifiedMatching +OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:CD101 semapv:UnspecifiedMatching +OMIM:604516 IGSF2 skos:exactMatch ncbigene:9398 semapv:UnspecifiedMatching +OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:9237 semapv:UnspecifiedMatching +OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:PPARGC1A semapv:UnspecifiedMatching +OMIM:604517 PPARGC1A skos:exactMatch ncbigene:10891 semapv:UnspecifiedMatching +OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:4563 semapv:UnspecifiedMatching +OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:GRAP2 semapv:UnspecifiedMatching +OMIM:604518 GRAP2 skos:exactMatch ncbigene:9402 semapv:UnspecifiedMatching +OMIM:604519 inflammatory bowel disease 3 skos:exactMatch MONDO:0011471 semapv:UnspecifiedMatching +OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:11930 semapv:UnspecifiedMatching +OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:TNFSF14 semapv:UnspecifiedMatching +OMIM:604520 TNFSF14 skos:exactMatch ncbigene:8740 semapv:UnspecifiedMatching +OMIM:604521 HAAO skos:exactMatch hgnc.symbol:4796 semapv:UnspecifiedMatching +OMIM:604521 HAAO skos:exactMatch hgnc.symbol:HAAO semapv:UnspecifiedMatching +OMIM:604521 HAAO skos:exactMatch ncbigene:23498 semapv:UnspecifiedMatching +OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:2762 semapv:UnspecifiedMatching +OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:DEFA3 semapv:UnspecifiedMatching +OMIM:604522 DEFA3 skos:exactMatch ncbigene:1668 semapv:UnspecifiedMatching +OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:1850 semapv:UnspecifiedMatching +OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:CELSR1 semapv:UnspecifiedMatching +OMIM:604523 CELSR1 skos:exactMatch ncbigene:9620 semapv:UnspecifiedMatching +OMIM:604524 LY75 skos:exactMatch hgnc.symbol:6729 semapv:UnspecifiedMatching +OMIM:604524 LY75 skos:exactMatch hgnc.symbol:LY75 semapv:UnspecifiedMatching +OMIM:604524 LY75 skos:exactMatch ncbigene:4065 semapv:UnspecifiedMatching +OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:5184 semapv:UnspecifiedMatching +OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:HRH3 semapv:UnspecifiedMatching +OMIM:604525 HRH3 skos:exactMatch ncbigene:11255 semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch UMLS:C1415879 semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:5385 semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:IDH3B semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch ncbigene:3420 semapv:UnspecifiedMatching +OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:6252 semapv:UnspecifiedMatching +OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:KCNH3 semapv:UnspecifiedMatching +OMIM:604527 KCNH3 skos:exactMatch ncbigene:23416 semapv:UnspecifiedMatching +OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:6253 semapv:UnspecifiedMatching +OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:KCNH4 semapv:UnspecifiedMatching +OMIM:604528 KCNH4 skos:exactMatch ncbigene:23415 semapv:UnspecifiedMatching +OMIM:604529 OTP skos:exactMatch UMLS:C1418198 semapv:UnspecifiedMatching +OMIM:604529 OTP skos:exactMatch hgnc.symbol:8518 semapv:UnspecifiedMatching +OMIM:604529 OTP skos:exactMatch hgnc.symbol:OTP semapv:UnspecifiedMatching +OMIM:604529 OTP skos:exactMatch ncbigene:23440 semapv:UnspecifiedMatching +OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:6731 semapv:UnspecifiedMatching +OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:NCR1 semapv:UnspecifiedMatching +OMIM:604530 NCR1 skos:exactMatch ncbigene:9437 semapv:UnspecifiedMatching +OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:6732 semapv:UnspecifiedMatching +OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:NCR2 semapv:UnspecifiedMatching +OMIM:604531 NCR2 skos:exactMatch ncbigene:9436 semapv:UnspecifiedMatching +OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:9011 semapv:UnspecifiedMatching +OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:PKD2L1 semapv:UnspecifiedMatching +OMIM:604532 PKD2L1 skos:exactMatch ncbigene:9033 semapv:UnspecifiedMatching +OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:6130 semapv:UnspecifiedMatching +OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:ISG20 semapv:UnspecifiedMatching +OMIM:604533 ISG20 skos:exactMatch ncbigene:3669 semapv:UnspecifiedMatching +OMIM:604534 CD83 skos:exactMatch hgnc.symbol:1703 semapv:UnspecifiedMatching +OMIM:604534 CD83 skos:exactMatch hgnc.symbol:CD83 semapv:UnspecifiedMatching +OMIM:604534 CD83 skos:exactMatch ncbigene:9308 semapv:UnspecifiedMatching +OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:6326 semapv:UnspecifiedMatching +OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:KIFC3 semapv:UnspecifiedMatching +OMIM:604535 KIFC3 skos:exactMatch ncbigene:3801 semapv:UnspecifiedMatching +OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch MONDO:0011472 semapv:UnspecifiedMatching +OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch Orphanet:158668 semapv:UnspecifiedMatching +OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching +OMIM:604537 leber congenital amaurosis 5 skos:exactMatch MONDO:0011473 semapv:UnspecifiedMatching +OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:6393 semapv:UnspecifiedMatching +OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:KIF2C semapv:UnspecifiedMatching +OMIM:604538 KIF2C skos:exactMatch ncbigene:11004 semapv:UnspecifiedMatching +OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:218 semapv:UnspecifiedMatching +OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:ADAMTS2 semapv:UnspecifiedMatching +OMIM:604539 ADAMTS2 skos:exactMatch ncbigene:9509 semapv:UnspecifiedMatching +OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:6454 semapv:UnspecifiedMatching +OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:KRT36 semapv:UnspecifiedMatching +OMIM:604540 KRT36 skos:exactMatch ncbigene:8689 semapv:UnspecifiedMatching +OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:6455 semapv:UnspecifiedMatching +OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:KRT37 semapv:UnspecifiedMatching +OMIM:604541 KRT37 skos:exactMatch ncbigene:8688 semapv:UnspecifiedMatching +OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:6456 semapv:UnspecifiedMatching +OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:KRT38 semapv:UnspecifiedMatching +OMIM:604542 KRT38 skos:exactMatch ncbigene:8687 semapv:UnspecifiedMatching +OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:6612 semapv:UnspecifiedMatching +OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:LIMD1 semapv:UnspecifiedMatching +OMIM:604543 LIMD1 skos:exactMatch ncbigene:8994 semapv:UnspecifiedMatching +OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:17095 semapv:UnspecifiedMatching +OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:LARS2 semapv:UnspecifiedMatching +OMIM:604544 LARS2 skos:exactMatch ncbigene:23395 semapv:UnspecifiedMatching +OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:6398 semapv:UnspecifiedMatching +OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:KPNA5 semapv:UnspecifiedMatching +OMIM:604545 KPNA5 skos:exactMatch ncbigene:3841 semapv:UnspecifiedMatching +OMIM:604546 TONSL skos:exactMatch hgnc.symbol:7801 semapv:UnspecifiedMatching +OMIM:604546 TONSL skos:exactMatch hgnc.symbol:TONSL semapv:UnspecifiedMatching +OMIM:604546 TONSL skos:exactMatch ncbigene:4796 semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch UMLS:C1417710 semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:7799 semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:NFKBIE semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch ncbigene:4794 semapv:UnspecifiedMatching +OMIM:604550 DENR skos:exactMatch hgnc.symbol:2769 semapv:UnspecifiedMatching +OMIM:604550 DENR skos:exactMatch hgnc.symbol:DENR semapv:UnspecifiedMatching +OMIM:604550 DENR skos:exactMatch ncbigene:8562 semapv:UnspecifiedMatching +OMIM:604551 CH25H skos:exactMatch hgnc.symbol:1907 semapv:UnspecifiedMatching +OMIM:604551 CH25H skos:exactMatch hgnc.symbol:CH25H semapv:UnspecifiedMatching +OMIM:604551 CH25H skos:exactMatch ncbigene:9023 semapv:UnspecifiedMatching +OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:4894 semapv:UnspecifiedMatching +OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:HGFAC semapv:UnspecifiedMatching +OMIM:604552 HGFAC skos:exactMatch ncbigene:3083 semapv:UnspecifiedMatching +OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:5203 semapv:UnspecifiedMatching +OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:HSBP1 semapv:UnspecifiedMatching +OMIM:604553 HSBP1 skos:exactMatch ncbigene:3281 semapv:UnspecifiedMatching +OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:5226 semapv:UnspecifiedMatching +OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:HSF2BP semapv:UnspecifiedMatching +OMIM:604554 HSF2BP skos:exactMatch ncbigene:11077 semapv:UnspecifiedMatching +OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:1749 semapv:UnspecifiedMatching +OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:CDH10 semapv:UnspecifiedMatching +OMIM:604555 CDH10 skos:exactMatch ncbigene:1008 semapv:UnspecifiedMatching +OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:3092 semapv:UnspecifiedMatching +OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:DYRK1B semapv:UnspecifiedMatching +OMIM:604556 DYRK1B skos:exactMatch ncbigene:9149 semapv:UnspecifiedMatching +OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:16762 semapv:UnspecifiedMatching +OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:ZNF423 semapv:UnspecifiedMatching +OMIM:604557 ZNF423 skos:exactMatch ncbigene:23090 semapv:UnspecifiedMatching +OMIM:604558 ICOS skos:exactMatch hgnc.symbol:5351 semapv:UnspecifiedMatching +OMIM:604558 ICOS skos:exactMatch hgnc.symbol:ICOS semapv:UnspecifiedMatching +OMIM:604558 ICOS skos:exactMatch ncbigene:29851 semapv:UnspecifiedMatching +OMIM:604559 progressive familial heart block, iia 1b skos:exactMatch MONDO:0011474 semapv:UnspecifiedMatching +OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:7048 semapv:UnspecifiedMatching +OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:MGAT4B semapv:UnspecifiedMatching +OMIM:604561 MGAT4B skos:exactMatch ncbigene:11282 semapv:UnspecifiedMatching +OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:17066 semapv:UnspecifiedMatching +OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:ACIN1 semapv:UnspecifiedMatching +OMIM:604562 ACIN1 skos:exactMatch ncbigene:22985 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch MONDO:0011475 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching +OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:7064 semapv:UnspecifiedMatching +OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:MGST3 semapv:UnspecifiedMatching +OMIM:604564 MGST3 skos:exactMatch ncbigene:4259 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch UMLS:C1426822 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:20266 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:ALG5 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch ncbigene:29880 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch UMLS:C1427953 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:23157 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:ALG6 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch ncbigene:29929 semapv:UnspecifiedMatching +OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:2985 semapv:UnspecifiedMatching +OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:DOC2A semapv:UnspecifiedMatching +OMIM:604567 DOC2A skos:exactMatch ncbigene:8448 semapv:UnspecifiedMatching +OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:2986 semapv:UnspecifiedMatching +OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:DOC2B semapv:UnspecifiedMatching +OMIM:604568 DOC2B skos:exactMatch ncbigene:8447 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C1422223 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2677504 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2750246 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C4552043 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:13830 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:CNTNAP2 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch ncbigene:26047 semapv:UnspecifiedMatching +OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:30422 semapv:UnspecifiedMatching +OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:SHROOM3 semapv:UnspecifiedMatching +OMIM:604570 SHROOM3 skos:exactMatch ncbigene:57619 semapv:UnspecifiedMatching +OMIM:604571 bare lymphocyte syndrome, iia 1 skos:exactMatch MONDO:0011476 semapv:UnspecifiedMatching +OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:5270 semapv:UnspecifiedMatching +OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:DNAJB1 semapv:UnspecifiedMatching +OMIM:604572 DNAJB1 skos:exactMatch ncbigene:3337 semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch UMLS:C1412885 semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:1188 semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:ATP5MJ semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch ncbigene:9556 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch UMLS:C1413032 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:1362 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:FRRS1L semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch ncbigene:23732 semapv:UnspecifiedMatching +OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:1177 semapv:UnspecifiedMatching +OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:ZNHIT2 semapv:UnspecifiedMatching +OMIM:604575 ZNHIT2 skos:exactMatch ncbigene:741 semapv:UnspecifiedMatching +OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:1187 semapv:UnspecifiedMatching +OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:ERG28 semapv:UnspecifiedMatching +OMIM:604576 ERG28 skos:exactMatch ncbigene:11161 semapv:UnspecifiedMatching +OMIM:604577 BVES skos:exactMatch hgnc.symbol:1152 semapv:UnspecifiedMatching +OMIM:604577 BVES skos:exactMatch hgnc.symbol:BVES semapv:UnspecifiedMatching +OMIM:604577 BVES skos:exactMatch ncbigene:11149 semapv:UnspecifiedMatching +OMIM:604578 AIM2 skos:exactMatch UMLS:C1332065 semapv:UnspecifiedMatching +OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:357 semapv:UnspecifiedMatching +OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:AIM2 semapv:UnspecifiedMatching +OMIM:604578 AIM2 skos:exactMatch ncbigene:9447 semapv:UnspecifiedMatching +OMIM:604579 FZD4 skos:exactMatch hgnc.symbol:4042 semapv:UnspecifiedMatching +OMIM:604579 FZD4 skos:exactMatch hgnc.symbol:FZD4 semapv:UnspecifiedMatching +OMIM:604579 FZD4 skos:exactMatch ncbigene:8322 semapv:UnspecifiedMatching +OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:3602 semapv:UnspecifiedMatching +OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:FBLN5 semapv:UnspecifiedMatching +OMIM:604580 FBLN5 skos:exactMatch ncbigene:10516 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1412274 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:315 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:AFG3L2 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch ncbigene:10939 semapv:UnspecifiedMatching +OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc.symbol:33529 semapv:UnspecifiedMatching +OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc.symbol:PALM2AKAP2 semapv:UnspecifiedMatching +OMIM:604582 PALM2AKAP2 skos:exactMatch ncbigene:445815 semapv:UnspecifiedMatching +OMIM:604583 PDCD5 skos:exactMatch hgnc.symbol:8764 semapv:UnspecifiedMatching +OMIM:604583 PDCD5 skos:exactMatch hgnc.symbol:PDCD5 semapv:UnspecifiedMatching +OMIM:604583 PDCD5 skos:exactMatch ncbigene:9141 semapv:UnspecifiedMatching +OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:8805 semapv:UnspecifiedMatching +OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:PDGFRL semapv:UnspecifiedMatching +OMIM:604584 PDGFRL skos:exactMatch ncbigene:5157 semapv:UnspecifiedMatching +OMIM:604585 SP100 skos:exactMatch hgnc.symbol:11206 semapv:UnspecifiedMatching +OMIM:604585 SP100 skos:exactMatch hgnc.symbol:SP100 semapv:UnspecifiedMatching +OMIM:604585 SP100 skos:exactMatch ncbigene:6672 semapv:UnspecifiedMatching +OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:19665 semapv:UnspecifiedMatching +OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:STXBP5 semapv:UnspecifiedMatching +OMIM:604586 STXBP5 skos:exactMatch ncbigene:134957 semapv:UnspecifiedMatching +OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:29912 semapv:UnspecifiedMatching +OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:CALCOCO2 semapv:UnspecifiedMatching +OMIM:604587 CALCOCO2 skos:exactMatch ncbigene:10241 semapv:UnspecifiedMatching +OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:7744 semapv:UnspecifiedMatching +OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:NEK1 semapv:UnspecifiedMatching +OMIM:604588 NEK1 skos:exactMatch ncbigene:4750 semapv:UnspecifiedMatching +OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:1102 semapv:UnspecifiedMatching +OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:BRD1 semapv:UnspecifiedMatching +OMIM:604589 BRD1 skos:exactMatch ncbigene:23774 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch UMLS:C1414554 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:3618 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:FCGR2B semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch ncbigene:2213 semapv:UnspecifiedMatching +OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:8630 semapv:UnspecifiedMatching +OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:PEBP1 semapv:UnspecifiedMatching +OMIM:604591 PEBP1 skos:exactMatch ncbigene:5037 semapv:UnspecifiedMatching +OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:11647 semapv:UnspecifiedMatching +OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:TCIRG1 semapv:UnspecifiedMatching +OMIM:604592 TCIRG1 skos:exactMatch ncbigene:10312 semapv:UnspecifiedMatching +OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:6325 semapv:UnspecifiedMatching +OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:KIF5C semapv:UnspecifiedMatching +OMIM:604593 KIF5C skos:exactMatch ncbigene:3800 semapv:UnspecifiedMatching +OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:14312 semapv:UnspecifiedMatching +OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:CRIPT semapv:UnspecifiedMatching +OMIM:604594 CRIPT skos:exactMatch ncbigene:9419 semapv:UnspecifiedMatching +OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:14379 semapv:UnspecifiedMatching +OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:FBXW10B semapv:UnspecifiedMatching +OMIM:604596 FBXW10B skos:exactMatch ncbigene:374286 semapv:UnspecifiedMatching +OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:18708 semapv:UnspecifiedMatching +OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:GRIP1 semapv:UnspecifiedMatching +OMIM:604597 GRIP1 skos:exactMatch ncbigene:23426 semapv:UnspecifiedMatching +OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:1355 semapv:UnspecifiedMatching +OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:OSGIN2 semapv:UnspecifiedMatching +OMIM:604598 OSGIN2 skos:exactMatch ncbigene:734 semapv:UnspecifiedMatching +OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:14129 semapv:UnspecifiedMatching +OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:EHMT2 semapv:UnspecifiedMatching +OMIM:604599 EHMT2 skos:exactMatch ncbigene:10919 semapv:UnspecifiedMatching +OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:14323 semapv:UnspecifiedMatching +OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:TRPM5 semapv:UnspecifiedMatching +OMIM:604600 TRPM5 skos:exactMatch ncbigene:29850 semapv:UnspecifiedMatching +OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:7469 semapv:UnspecifiedMatching +OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:MTRF1 semapv:UnspecifiedMatching +OMIM:604601 MTRF1 skos:exactMatch ncbigene:9617 semapv:UnspecifiedMatching +OMIM:604602 MRRF skos:exactMatch hgnc.symbol:7234 semapv:UnspecifiedMatching +OMIM:604602 MRRF skos:exactMatch hgnc.symbol:MRRF semapv:UnspecifiedMatching +OMIM:604602 MRRF skos:exactMatch ncbigene:92399 semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch UMLS:C1414587 semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch hgnc.symbol:3656 semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch hgnc.symbol:MYOF semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch ncbigene:26509 semapv:UnspecifiedMatching +OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:1329 semapv:UnspecifiedMatching +OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:SLC30A9 semapv:UnspecifiedMatching +OMIM:604604 SLC30A9 skos:exactMatch ncbigene:10463 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch UMLS:C1537432 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch hgnc.symbol:4814 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch hgnc.symbol:KALRN semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch ncbigene:8997 semapv:UnspecifiedMatching +OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:23381 semapv:UnspecifiedMatching +OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:OBP2B semapv:UnspecifiedMatching +OMIM:604606 OBP2B skos:exactMatch ncbigene:29989 semapv:UnspecifiedMatching +OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:5112 semapv:UnspecifiedMatching +OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:HOXB13 semapv:UnspecifiedMatching +OMIM:604607 HOXB13 skos:exactMatch ncbigene:10481 semapv:UnspecifiedMatching +OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:7510 semapv:UnspecifiedMatching +OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:MUC12 semapv:UnspecifiedMatching +OMIM:604609 MUC12 skos:exactMatch ncbigene:10071 semapv:UnspecifiedMatching +OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:1058 semapv:UnspecifiedMatching +OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:BLM semapv:UnspecifiedMatching +OMIM:604610 RECQL3 skos:exactMatch ncbigene:641 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch UMLS:C1337007 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:12791 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:WRN semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch ncbigene:7486 semapv:UnspecifiedMatching +OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:7835 semapv:UnspecifiedMatching +OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:NKX2-2 semapv:UnspecifiedMatching +OMIM:604612 NKX2-2 skos:exactMatch ncbigene:4821 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch UMLS:C0521619 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch UMLS:C1420606 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:11595 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:TBX18 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch ncbigene:9096 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch UMLS:C0271583 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch UMLS:C1420607 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:11596 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:TBX19 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch ncbigene:9095 semapv:UnspecifiedMatching +OMIM:604615 EOMES skos:exactMatch UMLS:C1414420 semapv:UnspecifiedMatching +OMIM:604615 EOMES skos:exactMatch hgnc.symbol:3372 semapv:UnspecifiedMatching +OMIM:604615 EOMES skos:exactMatch hgnc.symbol:EOMES semapv:UnspecifiedMatching +OMIM:604615 EOMES skos:exactMatch ncbigene:8320 semapv:UnspecifiedMatching +OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:11590 semapv:UnspecifiedMatching +OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:TBR1 semapv:UnspecifiedMatching +OMIM:604616 TBR1 skos:exactMatch ncbigene:10716 semapv:UnspecifiedMatching +OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:7760 semapv:UnspecifiedMatching +OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:NEU3 semapv:UnspecifiedMatching +OMIM:604617 NEU3 skos:exactMatch ncbigene:10825 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch UMLS:C1417732 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:7828 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:NIT1 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch ncbigene:4817 semapv:UnspecifiedMatching +OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:6572 semapv:UnspecifiedMatching +OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:LGI1 semapv:UnspecifiedMatching +OMIM:604619 LGI1 skos:exactMatch ncbigene:9211 semapv:UnspecifiedMatching +OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:4517 semapv:UnspecifiedMatching +OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:GPR65 semapv:UnspecifiedMatching +OMIM:604620 GPR65 skos:exactMatch ncbigene:8477 semapv:UnspecifiedMatching +OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:7046 semapv:UnspecifiedMatching +OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:MGAT3 semapv:UnspecifiedMatching +OMIM:604621 MGAT3 skos:exactMatch ncbigene:4248 semapv:UnspecifiedMatching +OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:7047 semapv:UnspecifiedMatching +OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:MGAT4A semapv:UnspecifiedMatching +OMIM:604623 MGAT4A skos:exactMatch ncbigene:11320 semapv:UnspecifiedMatching +OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:5248 semapv:UnspecifiedMatching +OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:HSPB3 semapv:UnspecifiedMatching +OMIM:604624 HSPB3 skos:exactMatch ncbigene:8988 semapv:UnspecifiedMatching +OMIM:604625 tooth agenesis, selective, 3 skos:exactMatch MONDO:0011477 semapv:UnspecifiedMatching +OMIM:604626 ME3 skos:exactMatch hgnc.symbol:6985 semapv:UnspecifiedMatching +OMIM:604626 ME3 skos:exactMatch hgnc.symbol:ME3 semapv:UnspecifiedMatching +OMIM:604626 ME3 skos:exactMatch ncbigene:10873 semapv:UnspecifiedMatching +OMIM:604627 IL17B skos:exactMatch hgnc.symbol:5982 semapv:UnspecifiedMatching +OMIM:604627 IL17B skos:exactMatch hgnc.symbol:IL17B semapv:UnspecifiedMatching +OMIM:604627 IL17B skos:exactMatch ncbigene:27190 semapv:UnspecifiedMatching +OMIM:604628 IL17C skos:exactMatch hgnc.symbol:5983 semapv:UnspecifiedMatching +OMIM:604628 IL17C skos:exactMatch hgnc.symbol:IL17C semapv:UnspecifiedMatching +OMIM:604628 IL17C skos:exactMatch ncbigene:27189 semapv:UnspecifiedMatching +OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:7167 semapv:UnspecifiedMatching +OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:MMP20 semapv:UnspecifiedMatching +OMIM:604629 MMP20 skos:exactMatch ncbigene:9313 semapv:UnspecifiedMatching +OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:7961 semapv:UnspecifiedMatching +OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:NR0B2 semapv:UnspecifiedMatching +OMIM:604630 NR0B2 skos:exactMatch ncbigene:8431 semapv:UnspecifiedMatching +OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:16919 semapv:UnspecifiedMatching +OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:VAT1 semapv:UnspecifiedMatching +OMIM:604631 VAT1 skos:exactMatch ncbigene:10493 semapv:UnspecifiedMatching +OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:25507 semapv:UnspecifiedMatching +OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:VAC14 semapv:UnspecifiedMatching +OMIM:604632 VAC14 skos:exactMatch ncbigene:55697 semapv:UnspecifiedMatching +OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:3219 semapv:UnspecifiedMatching +OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:EFEMP2 semapv:UnspecifiedMatching +OMIM:604633 EFEMP2 skos:exactMatch ncbigene:30008 semapv:UnspecifiedMatching +OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:11554 semapv:UnspecifiedMatching +OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:TAGLN2 semapv:UnspecifiedMatching +OMIM:604634 TAGLN2 skos:exactMatch ncbigene:8407 semapv:UnspecifiedMatching +OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:8076 semapv:UnspecifiedMatching +OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:NXPH2 semapv:UnspecifiedMatching +OMIM:604635 NXPH2 skos:exactMatch ncbigene:11249 semapv:UnspecifiedMatching +OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:8077 semapv:UnspecifiedMatching +OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:NXPH3 semapv:UnspecifiedMatching +OMIM:604636 NXPH3 skos:exactMatch ncbigene:11248 semapv:UnspecifiedMatching +OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:8078 semapv:UnspecifiedMatching +OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:NXPH4 semapv:UnspecifiedMatching +OMIM:604637 NXPH4 skos:exactMatch ncbigene:11247 semapv:UnspecifiedMatching +OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:166 semapv:UnspecifiedMatching +OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:ACTN4 semapv:UnspecifiedMatching +OMIM:604638 ACTN4 skos:exactMatch ncbigene:81 semapv:UnspecifiedMatching +OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:20693 semapv:UnspecifiedMatching +OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:NXPH1 semapv:UnspecifiedMatching +OMIM:604639 NXPH1 skos:exactMatch ncbigene:30010 semapv:UnspecifiedMatching +OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:13532 semapv:UnspecifiedMatching +OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:TLX3 semapv:UnspecifiedMatching +OMIM:604640 TLX3 skos:exactMatch ncbigene:30012 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C1417024 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:6882 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:MAPK8IP1 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch ncbigene:9479 semapv:UnspecifiedMatching +OMIM:604642 CA10 skos:exactMatch hgnc.symbol:1369 semapv:UnspecifiedMatching +OMIM:604642 CA10 skos:exactMatch hgnc.symbol:CA10 semapv:UnspecifiedMatching +OMIM:604642 CA10 skos:exactMatch ncbigene:56934 semapv:UnspecifiedMatching +OMIM:604643 NPFF skos:exactMatch hgnc.symbol:7901 semapv:UnspecifiedMatching +OMIM:604643 NPFF skos:exactMatch hgnc.symbol:NPFF semapv:UnspecifiedMatching +OMIM:604643 NPFF skos:exactMatch ncbigene:8620 semapv:UnspecifiedMatching +OMIM:604644 CA11 skos:exactMatch hgnc.symbol:1370 semapv:UnspecifiedMatching +OMIM:604644 CA11 skos:exactMatch hgnc.symbol:CA11 semapv:UnspecifiedMatching +OMIM:604644 CA11 skos:exactMatch ncbigene:770 semapv:UnspecifiedMatching +OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:8792 semapv:UnspecifiedMatching +OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:PDE7B semapv:UnspecifiedMatching +OMIM:604645 PDE7B skos:exactMatch ncbigene:27115 semapv:UnspecifiedMatching +OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:8065 semapv:UnspecifiedMatching +OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:NUP50 semapv:UnspecifiedMatching +OMIM:604646 NUP50 skos:exactMatch ncbigene:10762 semapv:UnspecifiedMatching +OMIM:604647 CALY skos:exactMatch hgnc.symbol:17938 semapv:UnspecifiedMatching +OMIM:604647 CALY skos:exactMatch hgnc.symbol:CALY semapv:UnspecifiedMatching +OMIM:604647 CALY skos:exactMatch ncbigene:50632 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch UMLS:C1420604 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:11593 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:TBX10 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch ncbigene:347853 semapv:UnspecifiedMatching +OMIM:604649 TBCD skos:exactMatch hgnc.symbol:11581 semapv:UnspecifiedMatching +OMIM:604649 TBCD skos:exactMatch hgnc.symbol:TBCD semapv:UnspecifiedMatching +OMIM:604649 TBCD skos:exactMatch ncbigene:6904 semapv:UnspecifiedMatching +OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:5411 semapv:UnspecifiedMatching +OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:IFIT3 semapv:UnspecifiedMatching +OMIM:604650 IFIT3 skos:exactMatch ncbigene:3437 semapv:UnspecifiedMatching +OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:4222 semapv:UnspecifiedMatching +OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:GDF7 semapv:UnspecifiedMatching +OMIM:604651 GDF7 skos:exactMatch ncbigene:151449 semapv:UnspecifiedMatching +OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:11640 semapv:UnspecifiedMatching +OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:TCF7L1 semapv:UnspecifiedMatching +OMIM:604652 TCF7L1 skos:exactMatch ncbigene:83439 semapv:UnspecifiedMatching +OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:10909 semapv:UnspecifiedMatching +OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:SLC40A1 semapv:UnspecifiedMatching +OMIM:604653 SLC40A1 skos:exactMatch ncbigene:30061 semapv:UnspecifiedMatching +OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:5298 semapv:UnspecifiedMatching +OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:HTR3B semapv:UnspecifiedMatching +OMIM:604654 HTR3B skos:exactMatch ncbigene:9177 semapv:UnspecifiedMatching +OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:6853 semapv:UnspecifiedMatching +OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:MAP3K14 semapv:UnspecifiedMatching +OMIM:604655 MAP3K14 skos:exactMatch ncbigene:9020 semapv:UnspecifiedMatching +OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:1212 semapv:UnspecifiedMatching +OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:FMNL1 semapv:UnspecifiedMatching +OMIM:604656 FMNL1 skos:exactMatch ncbigene:752 semapv:UnspecifiedMatching +OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:11857 semapv:UnspecifiedMatching +OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:TM4SF5 semapv:UnspecifiedMatching +OMIM:604657 TM4SF5 skos:exactMatch ncbigene:9032 semapv:UnspecifiedMatching +OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:11862 semapv:UnspecifiedMatching +OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:GPR137B semapv:UnspecifiedMatching +OMIM:604658 TM7SF1 skos:exactMatch ncbigene:7107 semapv:UnspecifiedMatching +OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:13525 semapv:UnspecifiedMatching +OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:ERVW-1 semapv:UnspecifiedMatching +OMIM:604659 ERVW1 skos:exactMatch ncbigene:30816 semapv:UnspecifiedMatching +OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:15521 semapv:UnspecifiedMatching +OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:KCNIP1 semapv:UnspecifiedMatching +OMIM:604660 KCNIP1 skos:exactMatch ncbigene:30820 semapv:UnspecifiedMatching +OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:15522 semapv:UnspecifiedMatching +OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:KCNIP2 semapv:UnspecifiedMatching +OMIM:604661 KCNIP2 skos:exactMatch ncbigene:30819 semapv:UnspecifiedMatching +OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:15523 semapv:UnspecifiedMatching +OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:KCNIP3 semapv:UnspecifiedMatching +OMIM:604662 KCNIP3 skos:exactMatch ncbigene:30818 semapv:UnspecifiedMatching +OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:12785 semapv:UnspecifiedMatching +OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:WNT6 semapv:UnspecifiedMatching +OMIM:604663 WNT6 skos:exactMatch ncbigene:7475 semapv:UnspecifiedMatching +OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:5398 semapv:UnspecifiedMatching +OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:IFI30 semapv:UnspecifiedMatching +OMIM:604664 IFI30 skos:exactMatch ncbigene:10437 semapv:UnspecifiedMatching +OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:2239 semapv:UnspecifiedMatching +OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:COPS3 semapv:UnspecifiedMatching +OMIM:604665 COPS3 skos:exactMatch ncbigene:8533 semapv:UnspecifiedMatching +OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:6866 semapv:UnspecifiedMatching +OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:MAP4K4 semapv:UnspecifiedMatching +OMIM:604666 MAP4K4 skos:exactMatch ncbigene:9448 semapv:UnspecifiedMatching +OMIM:604667 CADPS skos:exactMatch hgnc.symbol:1426 semapv:UnspecifiedMatching +OMIM:604667 CADPS skos:exactMatch hgnc.symbol:CADPS semapv:UnspecifiedMatching +OMIM:604667 CADPS skos:exactMatch ncbigene:8618 semapv:UnspecifiedMatching +OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:13057 semapv:UnspecifiedMatching +OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:ZNF264 semapv:UnspecifiedMatching +OMIM:604668 ZNF264 skos:exactMatch ncbigene:9422 semapv:UnspecifiedMatching +OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:9012 semapv:UnspecifiedMatching +OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:PKD2L2 semapv:UnspecifiedMatching +OMIM:604669 PKD2L2 skos:exactMatch ncbigene:27039 semapv:UnspecifiedMatching +OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:9015 semapv:UnspecifiedMatching +OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:PKDREJ semapv:UnspecifiedMatching +OMIM:604670 PKDREJ skos:exactMatch ncbigene:10343 semapv:UnspecifiedMatching +OMIM:604671 JTB skos:exactMatch hgnc.symbol:6201 semapv:UnspecifiedMatching +OMIM:604671 JTB skos:exactMatch hgnc.symbol:JTB semapv:UnspecifiedMatching +OMIM:604671 JTB skos:exactMatch ncbigene:10899 semapv:UnspecifiedMatching +OMIM:604672 CD209 skos:exactMatch hgnc.symbol:1641 semapv:UnspecifiedMatching +OMIM:604672 CD209 skos:exactMatch hgnc.symbol:CD209 semapv:UnspecifiedMatching +OMIM:604672 CD209 skos:exactMatch ncbigene:30835 semapv:UnspecifiedMatching +OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:7237 semapv:UnspecifiedMatching +OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:IRAG1 semapv:UnspecifiedMatching +OMIM:604673 IRAG1 skos:exactMatch ncbigene:10335 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch UMLS:C1415525 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:4881 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:HEY2 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch ncbigene:23493 semapv:UnspecifiedMatching +OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:21338 semapv:UnspecifiedMatching +OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:PRRX2 semapv:UnspecifiedMatching +OMIM:604675 PRRX2 skos:exactMatch ncbigene:51450 semapv:UnspecifiedMatching +OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:21659 semapv:UnspecifiedMatching +OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:HCP5 semapv:UnspecifiedMatching +OMIM:604676 HCP5 skos:exactMatch ncbigene:10866 semapv:UnspecifiedMatching +OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:2205 semapv:UnspecifiedMatching +OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:CERT1 semapv:UnspecifiedMatching +OMIM:604677 CERT1 skos:exactMatch ncbigene:10087 semapv:UnspecifiedMatching +OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:11865 semapv:UnspecifiedMatching +OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:TM9SF2 semapv:UnspecifiedMatching +OMIM:604678 TM9SF2 skos:exactMatch ncbigene:9375 semapv:UnspecifiedMatching +OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:8554 semapv:UnspecifiedMatching +OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:PABPC1 semapv:UnspecifiedMatching +OMIM:604679 PABPC1 skos:exactMatch ncbigene:26986 semapv:UnspecifiedMatching +OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:8556 semapv:UnspecifiedMatching +OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:PABPC3 semapv:UnspecifiedMatching +OMIM:604680 PABPC3 skos:exactMatch ncbigene:5042 semapv:UnspecifiedMatching +OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:6147 semapv:UnspecifiedMatching +OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:ITGAE semapv:UnspecifiedMatching +OMIM:604682 ITGAE skos:exactMatch ncbigene:3682 semapv:UnspecifiedMatching +OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:6319 semapv:UnspecifiedMatching +OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:KIF3A semapv:UnspecifiedMatching +OMIM:604683 KIF3A skos:exactMatch ncbigene:11127 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch UMLS:C1826257 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:16997 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:MLLT11 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch ncbigene:10962 semapv:UnspecifiedMatching +OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:5103 semapv:UnspecifiedMatching +OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:HOXA2 semapv:UnspecifiedMatching +OMIM:604685 HOXA2 skos:exactMatch ncbigene:3199 semapv:UnspecifiedMatching +OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:371 semapv:UnspecifiedMatching +OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:AKAP13 semapv:UnspecifiedMatching +OMIM:604686 AKAP13 skos:exactMatch ncbigene:11214 semapv:UnspecifiedMatching +OMIM:604687 PTGDR skos:exactMatch hgnc.symbol:9591 semapv:UnspecifiedMatching +OMIM:604687 PTGDR skos:exactMatch hgnc.symbol:PTGDR semapv:UnspecifiedMatching +OMIM:604687 PTGDR skos:exactMatch ncbigene:5729 semapv:UnspecifiedMatching +OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:375 semapv:UnspecifiedMatching +OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:AKAP5 semapv:UnspecifiedMatching +OMIM:604688 AKAP5 skos:exactMatch ncbigene:9495 semapv:UnspecifiedMatching +OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:373 semapv:UnspecifiedMatching +OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:AKAP3 semapv:UnspecifiedMatching +OMIM:604689 AKAP3 skos:exactMatch ncbigene:10566 semapv:UnspecifiedMatching +OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch MONDO:0011478 semapv:UnspecifiedMatching +OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:376 semapv:UnspecifiedMatching +OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:AKAP6 semapv:UnspecifiedMatching +OMIM:604691 AKAP6 skos:exactMatch ncbigene:9472 semapv:UnspecifiedMatching +OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:378 semapv:UnspecifiedMatching +OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:AKAP8 semapv:UnspecifiedMatching +OMIM:604692 AKAP8 skos:exactMatch ncbigene:10270 semapv:UnspecifiedMatching +OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:377 semapv:UnspecifiedMatching +OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:AKAP7 semapv:UnspecifiedMatching +OMIM:604693 AKAP7 skos:exactMatch ncbigene:9465 semapv:UnspecifiedMatching +OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:368 semapv:UnspecifiedMatching +OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:AKAP10 semapv:UnspecifiedMatching +OMIM:604694 AKAP10 skos:exactMatch ncbigene:11216 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch UMLS:C1412538 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:694 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:ARL3 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch ncbigene:403 semapv:UnspecifiedMatching +OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:369 semapv:UnspecifiedMatching +OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:AKAP11 semapv:UnspecifiedMatching +OMIM:604696 AKAP11 skos:exactMatch ncbigene:11215 semapv:UnspecifiedMatching +OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:10625 semapv:UnspecifiedMatching +OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:CCL26 semapv:UnspecifiedMatching +OMIM:604697 CCL26 skos:exactMatch ncbigene:10344 semapv:UnspecifiedMatching +OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:370 semapv:UnspecifiedMatching +OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:AKAP12 semapv:UnspecifiedMatching +OMIM:604698 AKAP12 skos:exactMatch ncbigene:9590 semapv:UnspecifiedMatching +OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:662 semapv:UnspecifiedMatching +OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:ARFRP1 semapv:UnspecifiedMatching +OMIM:604699 ARFRP1 skos:exactMatch ncbigene:10139 semapv:UnspecifiedMatching +OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:11982 semapv:UnspecifiedMatching +OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:TOM1 semapv:UnspecifiedMatching +OMIM:604700 TOM1 skos:exactMatch ncbigene:10043 semapv:UnspecifiedMatching +OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:11983 semapv:UnspecifiedMatching +OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:TOM1L1 semapv:UnspecifiedMatching +OMIM:604701 TOM1L1 skos:exactMatch ncbigene:10040 semapv:UnspecifiedMatching +OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:5003 semapv:UnspecifiedMatching +OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:HMGXB4 semapv:UnspecifiedMatching +OMIM:604702 HMGXB4 skos:exactMatch ncbigene:10042 semapv:UnspecifiedMatching +OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:973 semapv:UnspecifiedMatching +OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:BCAR3 semapv:UnspecifiedMatching +OMIM:604704 BCAR3 skos:exactMatch ncbigene:8412 semapv:UnspecifiedMatching +OMIM:604705 MERTK skos:exactMatch hgnc.symbol:7027 semapv:UnspecifiedMatching +OMIM:604705 MERTK skos:exactMatch hgnc.symbol:MERTK semapv:UnspecifiedMatching +OMIM:604705 MERTK skos:exactMatch ncbigene:10461 semapv:UnspecifiedMatching +OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:382 semapv:UnspecifiedMatching +OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:AKR1B10 semapv:UnspecifiedMatching +OMIM:604707 AKR1B10 skos:exactMatch ncbigene:57016 semapv:UnspecifiedMatching +OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:7774 semapv:UnspecifiedMatching +OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:NFAT5 semapv:UnspecifiedMatching +OMIM:604708 NFAT5 skos:exactMatch ncbigene:10725 semapv:UnspecifiedMatching +OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:11806 semapv:UnspecifiedMatching +OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:TIAM2 semapv:UnspecifiedMatching +OMIM:604709 TIAM2 skos:exactMatch ncbigene:26230 semapv:UnspecifiedMatching +OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:6717 semapv:UnspecifiedMatching +OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:LTBP4 semapv:UnspecifiedMatching +OMIM:604710 LTBP4 skos:exactMatch ncbigene:8425 semapv:UnspecifiedMatching +OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:12504 semapv:UnspecifiedMatching +OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:UBL3 semapv:UnspecifiedMatching +OMIM:604711 UBL3 skos:exactMatch ncbigene:5412 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C1424883 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:17296 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:RRM2B semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch ncbigene:50484 semapv:UnspecifiedMatching +OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:10576 semapv:UnspecifiedMatching +OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:CLEC11A semapv:UnspecifiedMatching +OMIM:604713 CLEC11A skos:exactMatch ncbigene:6320 semapv:UnspecifiedMatching +OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:12382 semapv:UnspecifiedMatching +OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:TSPYL1 semapv:UnspecifiedMatching +OMIM:604714 TSPYL1 skos:exactMatch ncbigene:7259 semapv:UnspecifiedMatching +OMIM:604715 orthostatic intolerance skos:exactMatch MONDO:0011479 semapv:UnspecifiedMatching +OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:12542 semapv:UnspecifiedMatching +OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:UGT2A1 semapv:UnspecifiedMatching +OMIM:604716 UGT2A1 skos:exactMatch ncbigene:10941 semapv:UnspecifiedMatching +OMIM:604717 deafness, autosomal dominant 20 skos:exactMatch MONDO:0011480 semapv:UnspecifiedMatching +OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:12398 semapv:UnspecifiedMatching +OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:TTF2 semapv:UnspecifiedMatching +OMIM:604718 TTF2 skos:exactMatch ncbigene:8458 semapv:UnspecifiedMatching +OMIM:604719 STK16 skos:exactMatch hgnc.symbol:11394 semapv:UnspecifiedMatching +OMIM:604719 STK16 skos:exactMatch hgnc.symbol:STK16 semapv:UnspecifiedMatching +OMIM:604719 STK16 skos:exactMatch ncbigene:8576 semapv:UnspecifiedMatching +OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:11762 semapv:UnspecifiedMatching +OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:TFR2 semapv:UnspecifiedMatching +OMIM:604720 TFR2 skos:exactMatch ncbigene:7036 semapv:UnspecifiedMatching +OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:16885 semapv:UnspecifiedMatching +OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:SH2D3A semapv:UnspecifiedMatching +OMIM:604721 SH2D3A skos:exactMatch ncbigene:10045 semapv:UnspecifiedMatching +OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:16884 semapv:UnspecifiedMatching +OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:SH2D3C semapv:UnspecifiedMatching +OMIM:604722 SH2D3C skos:exactMatch ncbigene:10044 semapv:UnspecifiedMatching +OMIM:604723 TSFM skos:exactMatch hgnc.symbol:12367 semapv:UnspecifiedMatching +OMIM:604723 TSFM skos:exactMatch hgnc.symbol:TSFM semapv:UnspecifiedMatching +OMIM:604723 TSFM skos:exactMatch ncbigene:10102 semapv:UnspecifiedMatching +OMIM:604724 HPSE skos:exactMatch hgnc.symbol:5164 semapv:UnspecifiedMatching +OMIM:604724 HPSE skos:exactMatch hgnc.symbol:HPSE semapv:UnspecifiedMatching +OMIM:604724 HPSE skos:exactMatch ncbigene:10855 semapv:UnspecifiedMatching +OMIM:604725 USP2 skos:exactMatch hgnc.symbol:12618 semapv:UnspecifiedMatching +OMIM:604725 USP2 skos:exactMatch hgnc.symbol:USP2 semapv:UnspecifiedMatching +OMIM:604725 USP2 skos:exactMatch ncbigene:9099 semapv:UnspecifiedMatching +OMIM:604726 STK17A skos:exactMatch hgnc.symbol:11395 semapv:UnspecifiedMatching +OMIM:604726 STK17A skos:exactMatch hgnc.symbol:STK17A semapv:UnspecifiedMatching +OMIM:604726 STK17A skos:exactMatch ncbigene:9263 semapv:UnspecifiedMatching +OMIM:604727 STK17B skos:exactMatch hgnc.symbol:11396 semapv:UnspecifiedMatching +OMIM:604727 STK17B skos:exactMatch hgnc.symbol:STK17B semapv:UnspecifiedMatching +OMIM:604727 STK17B skos:exactMatch ncbigene:9262 semapv:UnspecifiedMatching +OMIM:604728 USP3 skos:exactMatch hgnc.symbol:12626 semapv:UnspecifiedMatching +OMIM:604728 USP3 skos:exactMatch hgnc.symbol:USP3 semapv:UnspecifiedMatching +OMIM:604728 USP3 skos:exactMatch ncbigene:9960 semapv:UnspecifiedMatching +OMIM:604729 USP21 skos:exactMatch hgnc.symbol:12620 semapv:UnspecifiedMatching +OMIM:604729 USP21 skos:exactMatch hgnc.symbol:USP21 semapv:UnspecifiedMatching +OMIM:604729 USP21 skos:exactMatch ncbigene:27005 semapv:UnspecifiedMatching +OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:12425 semapv:UnspecifiedMatching +OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:TULP3 semapv:UnspecifiedMatching +OMIM:604730 TULP3 skos:exactMatch ncbigene:7289 semapv:UnspecifiedMatching +OMIM:604731 USP15 skos:exactMatch hgnc.symbol:12613 semapv:UnspecifiedMatching +OMIM:604731 USP15 skos:exactMatch hgnc.symbol:USP15 semapv:UnspecifiedMatching +OMIM:604731 USP15 skos:exactMatch ncbigene:9958 semapv:UnspecifiedMatching +OMIM:604732 TFEC skos:exactMatch hgnc.symbol:11754 semapv:UnspecifiedMatching +OMIM:604732 TFEC skos:exactMatch hgnc.symbol:TFEC semapv:UnspecifiedMatching +OMIM:604732 TFEC skos:exactMatch ncbigene:22797 semapv:UnspecifiedMatching +OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:12730 semapv:UnspecifiedMatching +OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:WARS2 semapv:UnspecifiedMatching +OMIM:604733 WARS2 skos:exactMatch ncbigene:10352 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch UMLS:C1421493 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:12754 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:WDR1 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch ncbigene:9948 semapv:UnspecifiedMatching +OMIM:604735 USP16 skos:exactMatch hgnc.symbol:12614 semapv:UnspecifiedMatching +OMIM:604735 USP16 skos:exactMatch hgnc.symbol:USP16 semapv:UnspecifiedMatching +OMIM:604735 USP16 skos:exactMatch ncbigene:10600 semapv:UnspecifiedMatching +OMIM:604736 USP25 skos:exactMatch hgnc.symbol:12624 semapv:UnspecifiedMatching +OMIM:604736 USP25 skos:exactMatch hgnc.symbol:USP25 semapv:UnspecifiedMatching +OMIM:604736 USP25 skos:exactMatch ncbigene:29761 semapv:UnspecifiedMatching +OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:12755 semapv:UnspecifiedMatching +OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:WDR3 semapv:UnspecifiedMatching +OMIM:604737 WDR3 skos:exactMatch ncbigene:10885 semapv:UnspecifiedMatching +OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:1610 semapv:UnspecifiedMatching +OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:CCR9 semapv:UnspecifiedMatching +OMIM:604738 CCR9 skos:exactMatch ncbigene:10803 semapv:UnspecifiedMatching +OMIM:604739 RBM39 skos:exactMatch UMLS:C1826781 semapv:UnspecifiedMatching +OMIM:604739 RBM39 skos:exactMatch hgnc.symbol:15923 semapv:UnspecifiedMatching +OMIM:604739 RBM39 skos:exactMatch hgnc.symbol:RBM39 semapv:UnspecifiedMatching +OMIM:604739 RBM39 skos:exactMatch ncbigene:9584 semapv:UnspecifiedMatching +OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:12876 semapv:UnspecifiedMatching +OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:SLC39A1 semapv:UnspecifiedMatching +OMIM:604740 SLC39A1 skos:exactMatch ncbigene:27173 semapv:UnspecifiedMatching +OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:388 semapv:UnspecifiedMatching +OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:AKR1D1 semapv:UnspecifiedMatching +OMIM:604741 AKR1D1 skos:exactMatch ncbigene:6718 semapv:UnspecifiedMatching +OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:2700 semapv:UnspecifiedMatching +OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:DCLK1 semapv:UnspecifiedMatching +OMIM:604742 DCLK1 skos:exactMatch ncbigene:9201 semapv:UnspecifiedMatching +OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:2715 semapv:UnspecifiedMatching +OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:DDAH1 semapv:UnspecifiedMatching +OMIM:604743 DDAH1 skos:exactMatch ncbigene:23576 semapv:UnspecifiedMatching +OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:2716 semapv:UnspecifiedMatching +OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:DDAH2 semapv:UnspecifiedMatching +OMIM:604744 DDAH2 skos:exactMatch ncbigene:23564 semapv:UnspecifiedMatching +OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:11646 semapv:UnspecifiedMatching +OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:TCFL5 semapv:UnspecifiedMatching +OMIM:604745 TCFL5 skos:exactMatch ncbigene:10732 semapv:UnspecifiedMatching +OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:11732 semapv:UnspecifiedMatching +OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:TESK2 semapv:UnspecifiedMatching +OMIM:604746 TESK2 skos:exactMatch ncbigene:10420 semapv:UnspecifiedMatching +OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:11193 semapv:UnspecifiedMatching +OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:SOX14 semapv:UnspecifiedMatching +OMIM:604747 SOX14 skos:exactMatch ncbigene:8403 semapv:UnspecifiedMatching +OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:11192 semapv:UnspecifiedMatching +OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:SOX13 semapv:UnspecifiedMatching +OMIM:604748 SOX13 skos:exactMatch ncbigene:9580 semapv:UnspecifiedMatching +OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:12866 semapv:UnspecifiedMatching +OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:ZNF235 semapv:UnspecifiedMatching +OMIM:604749 ZNF235 skos:exactMatch ncbigene:9310 semapv:UnspecifiedMatching +OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:13027 semapv:UnspecifiedMatching +OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:ZNF234 semapv:UnspecifiedMatching +OMIM:604750 ZNF234 skos:exactMatch ncbigene:10780 semapv:UnspecifiedMatching +OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:13059 semapv:UnspecifiedMatching +OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:ZNF266 semapv:UnspecifiedMatching +OMIM:604751 ZNF266 skos:exactMatch ncbigene:10781 semapv:UnspecifiedMatching +OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:13060 semapv:UnspecifiedMatching +OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:ZNF267 semapv:UnspecifiedMatching +OMIM:604752 ZNF267 skos:exactMatch ncbigene:10308 semapv:UnspecifiedMatching +OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:13061 semapv:UnspecifiedMatching +OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:ZNF268 semapv:UnspecifiedMatching +OMIM:604753 ZNF268 skos:exactMatch ncbigene:10795 semapv:UnspecifiedMatching +OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:13065 semapv:UnspecifiedMatching +OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:ZNF271P semapv:UnspecifiedMatching +OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:21628 semapv:UnspecifiedMatching +OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:ZNF460 semapv:UnspecifiedMatching +OMIM:604755 ZNF272 skos:exactMatch ncbigene:10794 semapv:UnspecifiedMatching +OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:13067 semapv:UnspecifiedMatching +OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:ZNF273 semapv:UnspecifiedMatching +OMIM:604756 ZNF273 skos:exactMatch ncbigene:10793 semapv:UnspecifiedMatching +OMIM:604757 craniosynostosis 2 skos:exactMatch MONDO:0011481 semapv:UnspecifiedMatching +OMIM:604758 RELB skos:exactMatch hgnc.symbol:9956 semapv:UnspecifiedMatching +OMIM:604758 RELB skos:exactMatch hgnc.symbol:RELB semapv:UnspecifiedMatching +OMIM:604758 RELB skos:exactMatch ncbigene:5971 semapv:UnspecifiedMatching +OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:18130 semapv:UnspecifiedMatching +OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:SYCP3 semapv:UnspecifiedMatching +OMIM:604759 SYCP3 skos:exactMatch ncbigene:50511 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch UMLS:C1421723 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:13028 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:ZNF236 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch ncbigene:7776 semapv:UnspecifiedMatching +OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:13008 semapv:UnspecifiedMatching +OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:ZFAND5 semapv:UnspecifiedMatching +OMIM:604761 ZFAND5 skos:exactMatch ncbigene:7763 semapv:UnspecifiedMatching +OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:17070 semapv:UnspecifiedMatching +OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:SWAP70 semapv:UnspecifiedMatching +OMIM:604762 switch-associated protein 70 skos:exactMatch ncbigene:23075 semapv:UnspecifiedMatching +OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:14193 semapv:UnspecifiedMatching +OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:ARHGEF12 semapv:UnspecifiedMatching +OMIM:604763 ARHGEF12 skos:exactMatch ncbigene:23365 semapv:UnspecifiedMatching +OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:12871 semapv:UnspecifiedMatching +OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:ZHX1 semapv:UnspecifiedMatching +OMIM:604764 ZHX1 skos:exactMatch ncbigene:11244 semapv:UnspecifiedMatching +OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch MONDO:0011482 semapv:UnspecifiedMatching +OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching +OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:13394 semapv:UnspecifiedMatching +OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:NPHS2 semapv:UnspecifiedMatching +OMIM:604766 NPHS2 skos:exactMatch ncbigene:7827 semapv:UnspecifiedMatching +OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:23658 semapv:UnspecifiedMatching +OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:DELEC1 semapv:UnspecifiedMatching +OMIM:604767 DEC1 skos:exactMatch ncbigene:50514 semapv:UnspecifiedMatching +OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:13047 semapv:UnspecifiedMatching +OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:ZNF254 semapv:UnspecifiedMatching +OMIM:604768 ZNF254 skos:exactMatch ncbigene:9534 semapv:UnspecifiedMatching +OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:9354 semapv:UnspecifiedMatching +OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:PRDX3 semapv:UnspecifiedMatching +OMIM:604769 PRDX3 skos:exactMatch ncbigene:10935 semapv:UnspecifiedMatching +OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:83 semapv:UnspecifiedMatching +OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:ACAA2 semapv:UnspecifiedMatching +OMIM:604770 ACAA2 skos:exactMatch ncbigene:10449 semapv:UnspecifiedMatching +OMIM:604771 polycystic bone disease skos:exactMatch MONDO:0011483 semapv:UnspecifiedMatching +OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch MONDO:0011484 semapv:UnspecifiedMatching +OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching +OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching +OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:87 semapv:UnspecifiedMatching +OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:ACAD8 semapv:UnspecifiedMatching +OMIM:604773 ACAD8 skos:exactMatch ncbigene:27034 semapv:UnspecifiedMatching +OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:491 semapv:UnspecifiedMatching +OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:ANGPTL3 semapv:UnspecifiedMatching +OMIM:604774 ANGPTL3 skos:exactMatch ncbigene:27329 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch UMLS:C1412407 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch UMLS:C3808667 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:497 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:TRPA1 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch ncbigene:8989 semapv:UnspecifiedMatching +OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:4953 semapv:UnspecifiedMatching +OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:HLA-DRB5 semapv:UnspecifiedMatching +OMIM:604776 HLA-DRB5 skos:exactMatch ncbigene:3127 semapv:UnspecifiedMatching +OMIM:604777 ichthyosis, congenital, autosomal recessive 5 skos:exactMatch MONDO:0011485 semapv:UnspecifiedMatching +OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:207 semapv:UnspecifiedMatching +OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:ADAM29 semapv:UnspecifiedMatching +OMIM:604778 ADAM29 skos:exactMatch ncbigene:11086 semapv:UnspecifiedMatching +OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:208 semapv:UnspecifiedMatching +OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:ADAM30 semapv:UnspecifiedMatching +OMIM:604779 ADAM30 skos:exactMatch ncbigene:11085 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch UMLS:C1427541 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:21396 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:ABHD5 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch ncbigene:51099 semapv:UnspecifiedMatching +OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:744 semapv:UnspecifiedMatching +OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:ASH2L semapv:UnspecifiedMatching +OMIM:604782 ASH2L skos:exactMatch ncbigene:9070 semapv:UnspecifiedMatching +OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:2087 semapv:UnspecifiedMatching +OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:CLPTM1 semapv:UnspecifiedMatching +OMIM:604783 CLPTM1 skos:exactMatch ncbigene:1209 semapv:UnspecifiedMatching +OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:11614 semapv:UnspecifiedMatching +OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:TCEA2 semapv:UnspecifiedMatching +OMIM:604784 TCEA2 skos:exactMatch ncbigene:6919 semapv:UnspecifiedMatching +OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:2512 semapv:UnspecifiedMatching +OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:CTNNAL1 semapv:UnspecifiedMatching +OMIM:604785 CTNNAL1 skos:exactMatch ncbigene:8727 semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch UMLS:C1538929 semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:695 semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:ARL4A semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch ncbigene:10124 semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch UMLS:C1824201 semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:698 semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:ARL4C semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch ncbigene:10123 semapv:UnspecifiedMatching +OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:10475 semapv:UnspecifiedMatching +OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:RUVBL2 semapv:UnspecifiedMatching +OMIM:604788 RUVBL2 skos:exactMatch ncbigene:10856 semapv:UnspecifiedMatching +OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:6136 semapv:UnspecifiedMatching +OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:ITGA11 semapv:UnspecifiedMatching +OMIM:604789 ITGA11 skos:exactMatch ncbigene:22801 semapv:UnspecifiedMatching +OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:14920 semapv:UnspecifiedMatching +OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:TAS2R14 semapv:UnspecifiedMatching +OMIM:604790 TAS2R14 skos:exactMatch ncbigene:50840 semapv:UnspecifiedMatching +OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:14918 semapv:UnspecifiedMatching +OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:TAS2R10 semapv:UnspecifiedMatching +OMIM:604791 TAS2R10 skos:exactMatch ncbigene:50839 semapv:UnspecifiedMatching +OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:14919 semapv:UnspecifiedMatching +OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:TAS2R13 semapv:UnspecifiedMatching +OMIM:604792 TAS2R13 skos:exactMatch ncbigene:50838 semapv:UnspecifiedMatching +OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:14913 semapv:UnspecifiedMatching +OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:TAS2R7 semapv:UnspecifiedMatching +OMIM:604793 TAS2R7 skos:exactMatch ncbigene:50837 semapv:UnspecifiedMatching +OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:14915 semapv:UnspecifiedMatching +OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:TAS2R8 semapv:UnspecifiedMatching +OMIM:604794 TAS2R8 skos:exactMatch ncbigene:50836 semapv:UnspecifiedMatching +OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:14917 semapv:UnspecifiedMatching +OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:TAS2R9 semapv:UnspecifiedMatching +OMIM:604795 TAS2R9 skos:exactMatch ncbigene:50835 semapv:UnspecifiedMatching +OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:14909 semapv:UnspecifiedMatching +OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:TAS2R1 semapv:UnspecifiedMatching +OMIM:604796 TAS2R1 skos:exactMatch ncbigene:50834 semapv:UnspecifiedMatching +OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:605 semapv:UnspecifiedMatching +OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:APOBEC2 semapv:UnspecifiedMatching +OMIM:604797 APOBEC2 skos:exactMatch ncbigene:10930 semapv:UnspecifiedMatching +OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:17512 semapv:UnspecifiedMatching +OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:HOMER1 semapv:UnspecifiedMatching +OMIM:604798 HOMER1 skos:exactMatch ncbigene:9456 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch UMLS:C1424987 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:17513 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:HOMER2 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch ncbigene:9455 semapv:UnspecifiedMatching +OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:17514 semapv:UnspecifiedMatching +OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:HOMER3 semapv:UnspecifiedMatching +OMIM:604800 HOMER3 skos:exactMatch ncbigene:9454 semapv:UnspecifiedMatching +OMIM:604801 muscular dystrophy, congenital, 1b skos:exactMatch MONDO:0011486 semapv:UnspecifiedMatching +OMIM:604802 huntington disease-like 3 skos:exactMatch MONDO:0011487 semapv:UnspecifiedMatching +OMIM:604802 huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching +OMIM:604802 huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch UMLS:C1876213 semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:1291 semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:DOP1B semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch ncbigene:9980 semapv:UnspecifiedMatching +OMIM:604804 microcephaly 3, primary, autosomal recessive skos:exactMatch MONDO:0011488 semapv:UnspecifiedMatching +OMIM:604805 spastic paraplegia 12, autosomal dominant skos:exactMatch MONDO:0011489 semapv:UnspecifiedMatching +OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:3760 semapv:UnspecifiedMatching +OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:FLRT1 semapv:UnspecifiedMatching +OMIM:604806 FLRT1 skos:exactMatch ncbigene:23769 semapv:UnspecifiedMatching +OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:3761 semapv:UnspecifiedMatching +OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:FLRT2 semapv:UnspecifiedMatching +OMIM:604807 FLRT2 skos:exactMatch ncbigene:23768 semapv:UnspecifiedMatching +OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:3762 semapv:UnspecifiedMatching +OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:FLRT3 semapv:UnspecifiedMatching +OMIM:604808 FLRT3 skos:exactMatch ncbigene:23767 semapv:UnspecifiedMatching +OMIM:604809 panbronchiolitis, diffuse skos:exactMatch MONDO:0011490 semapv:UnspecifiedMatching +OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:6602 semapv:UnspecifiedMatching +OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:LILRA1 semapv:UnspecifiedMatching +OMIM:604810 LILRA1 skos:exactMatch ncbigene:11024 semapv:UnspecifiedMatching +OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:6605 semapv:UnspecifiedMatching +OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:LILRB1 semapv:UnspecifiedMatching +OMIM:604811 LILRB1 skos:exactMatch ncbigene:10859 semapv:UnspecifiedMatching +OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:6603 semapv:UnspecifiedMatching +OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:LILRA2 semapv:UnspecifiedMatching +OMIM:604812 LILRA2 skos:exactMatch ncbigene:11027 semapv:UnspecifiedMatching +OMIM:604813 COX17 skos:exactMatch hgnc.symbol:2264 semapv:UnspecifiedMatching +OMIM:604813 COX17 skos:exactMatch hgnc.symbol:COX17 semapv:UnspecifiedMatching +OMIM:604813 COX17 skos:exactMatch ncbigene:10063 semapv:UnspecifiedMatching +OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:6609 semapv:UnspecifiedMatching +OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:LILRB5 semapv:UnspecifiedMatching +OMIM:604814 LILRB5 skos:exactMatch ncbigene:10990 semapv:UnspecifiedMatching +OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:6606 semapv:UnspecifiedMatching +OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:LILRB2 semapv:UnspecifiedMatching +OMIM:604815 LILRB2 skos:exactMatch ncbigene:10288 semapv:UnspecifiedMatching +OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:1973 semapv:UnspecifiedMatching +OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:CHST5 semapv:UnspecifiedMatching +OMIM:604817 CHST5 skos:exactMatch ncbigene:23563 semapv:UnspecifiedMatching +OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:6604 semapv:UnspecifiedMatching +OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:LILRA3 semapv:UnspecifiedMatching +OMIM:604818 LILRA3 skos:exactMatch ncbigene:11026 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch UMLS:C1858105 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch UMLS:C3810023 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:17042 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:PUF60 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch ncbigene:22827 semapv:UnspecifiedMatching +OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:6607 semapv:UnspecifiedMatching +OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:LILRB3 semapv:UnspecifiedMatching +OMIM:604820 LILRB3 skos:exactMatch ncbigene:11025 semapv:UnspecifiedMatching +OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:6608 semapv:UnspecifiedMatching +OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:LILRB4 semapv:UnspecifiedMatching +OMIM:604821 LILRB4 skos:exactMatch ncbigene:11006 semapv:UnspecifiedMatching +OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:1478 semapv:UnspecifiedMatching +OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:CAPN11 semapv:UnspecifiedMatching +OMIM:604822 CAPN11 skos:exactMatch ncbigene:11131 semapv:UnspecifiedMatching +OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:956 semapv:UnspecifiedMatching +OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:BARX2 semapv:UnspecifiedMatching +OMIM:604823 BARX2 skos:exactMatch ncbigene:8538 semapv:UnspecifiedMatching +OMIM:604824 KL skos:exactMatch hgnc.symbol:6344 semapv:UnspecifiedMatching +OMIM:604824 KL skos:exactMatch hgnc.symbol:KL semapv:UnspecifiedMatching +OMIM:604824 KL skos:exactMatch ncbigene:9365 semapv:UnspecifiedMatching +OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:3659 semapv:UnspecifiedMatching +OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:FEZ1 semapv:UnspecifiedMatching +OMIM:604825 FEZ1 skos:exactMatch ncbigene:9638 semapv:UnspecifiedMatching +OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:3660 semapv:UnspecifiedMatching +OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:FEZ2 semapv:UnspecifiedMatching +OMIM:604826 FEZ2 skos:exactMatch ncbigene:9637 semapv:UnspecifiedMatching +OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch MONDO:0011491 semapv:UnspecifiedMatching +OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:10646 semapv:UnspecifiedMatching +OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:XCL2 semapv:UnspecifiedMatching +OMIM:604828 XCL2 skos:exactMatch ncbigene:6846 semapv:UnspecifiedMatching +OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:3045 semapv:UnspecifiedMatching +OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:DSCR4 semapv:UnspecifiedMatching +OMIM:604829 DSCR4 skos:exactMatch ncbigene:10281 semapv:UnspecifiedMatching +OMIM:604830 mandibulofacial dysostosis syndrome, bauru iia skos:exactMatch MONDO:0011492 semapv:UnspecifiedMatching +OMIM:604831 EVC skos:exactMatch hgnc.symbol:3497 semapv:UnspecifiedMatching +OMIM:604831 EVC skos:exactMatch hgnc.symbol:EVC semapv:UnspecifiedMatching +OMIM:604831 EVC skos:exactMatch ncbigene:2121 semapv:UnspecifiedMatching +OMIM:604832 CA14 skos:exactMatch hgnc.symbol:1372 semapv:UnspecifiedMatching +OMIM:604832 CA14 skos:exactMatch hgnc.symbol:CA14 semapv:UnspecifiedMatching +OMIM:604832 CA14 skos:exactMatch ncbigene:23632 semapv:UnspecifiedMatching +OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:10626 semapv:UnspecifiedMatching +OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:CCL27 semapv:UnspecifiedMatching +OMIM:604833 CCL27 skos:exactMatch ncbigene:10850 semapv:UnspecifiedMatching +OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:11584 semapv:UnspecifiedMatching +OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:TBK1 semapv:UnspecifiedMatching +OMIM:604834 TBK1 skos:exactMatch ncbigene:29110 semapv:UnspecifiedMatching +OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:3067 semapv:UnspecifiedMatching +OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:DUSP12 semapv:UnspecifiedMatching +OMIM:604835 DUSP12 skos:exactMatch ncbigene:11266 semapv:UnspecifiedMatching +OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:1605 semapv:UnspecifiedMatching +OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:CCR4 semapv:UnspecifiedMatching +OMIM:604836 CCR4 skos:exactMatch ncbigene:1233 semapv:UnspecifiedMatching +OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:4502 semapv:UnspecifiedMatching +OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:PTGDR2 semapv:UnspecifiedMatching +OMIM:604837 PTGDR2 skos:exactMatch ncbigene:11251 semapv:UnspecifiedMatching +OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:4503 semapv:UnspecifiedMatching +OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:GPR45 semapv:UnspecifiedMatching +OMIM:604838 GPR45 skos:exactMatch ncbigene:11250 semapv:UnspecifiedMatching +OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:3722 semapv:UnspecifiedMatching +OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:FKBP6 semapv:UnspecifiedMatching +OMIM:604839 FKBP6 skos:exactMatch ncbigene:8468 semapv:UnspecifiedMatching +OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:3724 semapv:UnspecifiedMatching +OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:FKBP8 semapv:UnspecifiedMatching +OMIM:604840 FKBP8 skos:exactMatch ncbigene:23770 semapv:UnspecifiedMatching +OMIM:604841 stickler syndrome, iia 2 skos:exactMatch MONDO:0011493 semapv:UnspecifiedMatching +OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:10967 semapv:UnspecifiedMatching +OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:SLC22A3 semapv:UnspecifiedMatching +OMIM:604842 SLC22A3 skos:exactMatch ncbigene:6581 semapv:UnspecifiedMatching +OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:10959 semapv:UnspecifiedMatching +OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:SLCO1B1 semapv:UnspecifiedMatching +OMIM:604843 SLCO1B1 skos:exactMatch ncbigene:10599 semapv:UnspecifiedMatching +OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:5193 semapv:UnspecifiedMatching +OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:HS2ST1 semapv:UnspecifiedMatching +OMIM:604844 HS2ST1 skos:exactMatch ncbigene:9653 semapv:UnspecifiedMatching +OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:8637 semapv:UnspecifiedMatching +OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:PCA3 semapv:UnspecifiedMatching +OMIM:604845 PCA3 skos:exactMatch ncbigene:50652 semapv:UnspecifiedMatching +OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:5201 semapv:UnspecifiedMatching +OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:HS6ST1 semapv:UnspecifiedMatching +OMIM:604846 HS6ST1 skos:exactMatch ncbigene:9394 semapv:UnspecifiedMatching +OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:4481 semapv:UnspecifiedMatching +OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:GPR26 semapv:UnspecifiedMatching +OMIM:604847 GPR26 skos:exactMatch ncbigene:2849 semapv:UnspecifiedMatching +OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:4514 semapv:UnspecifiedMatching +OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:TAAR2 semapv:UnspecifiedMatching +OMIM:604849 TAAR2 skos:exactMatch ncbigene:9287 semapv:UnspecifiedMatching +OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:2240 semapv:UnspecifiedMatching +OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:COPS5 semapv:UnspecifiedMatching +OMIM:604850 COPS5 skos:exactMatch ncbigene:10987 semapv:UnspecifiedMatching +OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:4610 semapv:UnspecifiedMatching +OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:GRSF1 semapv:UnspecifiedMatching +OMIM:604851 GRSF1 skos:exactMatch ncbigene:2926 semapv:UnspecifiedMatching +OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:10638 semapv:UnspecifiedMatching +OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:CXCL11 semapv:UnspecifiedMatching +OMIM:604852 CXCL11 skos:exactMatch ncbigene:6373 semapv:UnspecifiedMatching +OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:14484 semapv:UnspecifiedMatching +OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:MRPL28 semapv:UnspecifiedMatching +OMIM:604853 MRPL28 skos:exactMatch ncbigene:10573 semapv:UnspecifiedMatching +OMIM:604854 INMT skos:exactMatch hgnc.symbol:6069 semapv:UnspecifiedMatching +OMIM:604854 INMT skos:exactMatch hgnc.symbol:INMT semapv:UnspecifiedMatching +OMIM:604854 INMT skos:exactMatch ncbigene:11185 semapv:UnspecifiedMatching +OMIM:604855 hyaluronan metabolism, defect 1n skos:exactMatch MONDO:0011494 semapv:UnspecifiedMatching +OMIM:604856 langerhans cell histiocytosis skos:exactMatch MONDO:0018310 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch UMLS:C1420408 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:11301 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:SRP54 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch ncbigene:6729 semapv:UnspecifiedMatching +OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:11302 semapv:UnspecifiedMatching +OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:SRP68 semapv:UnspecifiedMatching +OMIM:604858 SRP68 skos:exactMatch ncbigene:6730 semapv:UnspecifiedMatching +OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:6633 semapv:UnspecifiedMatching +OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:LMCD1 semapv:UnspecifiedMatching +OMIM:604859 LMCD1 skos:exactMatch ncbigene:29995 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch UMLS:C1416991 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:6819 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:MALT1 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch ncbigene:10892 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch UMLS:C1334331 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:6515 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:LATS2 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch ncbigene:26524 semapv:UnspecifiedMatching +OMIM:604862 CD207 skos:exactMatch hgnc.symbol:17935 semapv:UnspecifiedMatching +OMIM:604862 CD207 skos:exactMatch hgnc.symbol:CD207 semapv:UnspecifiedMatching +OMIM:604862 CD207 skos:exactMatch ncbigene:50489 semapv:UnspecifiedMatching +OMIM:604863 LRAT skos:exactMatch hgnc.symbol:6685 semapv:UnspecifiedMatching +OMIM:604863 LRAT skos:exactMatch hgnc.symbol:LRAT semapv:UnspecifiedMatching +OMIM:604863 LRAT skos:exactMatch ncbigene:9227 semapv:UnspecifiedMatching +OMIM:604864 osteoarthritis with mild chondrodysplasia skos:exactMatch MONDO:0011496 semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch UMLS:C1416662 semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:6350 semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:KLF7 semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch ncbigene:8609 semapv:UnspecifiedMatching +OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:9047 semapv:UnspecifiedMatching +OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:PLAGL2 semapv:UnspecifiedMatching +OMIM:604866 PLAGL2 skos:exactMatch ncbigene:5326 semapv:UnspecifiedMatching +OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:14921 semapv:UnspecifiedMatching +OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:TAS2R16 semapv:UnspecifiedMatching +OMIM:604867 TAS2R16 skos:exactMatch ncbigene:50833 semapv:UnspecifiedMatching +OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:14910 semapv:UnspecifiedMatching +OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:TAS2R3 semapv:UnspecifiedMatching +OMIM:604868 TAS2R3 skos:exactMatch ncbigene:50831 semapv:UnspecifiedMatching +OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:14911 semapv:UnspecifiedMatching +OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:TAS2R4 semapv:UnspecifiedMatching +OMIM:604869 TAS2R4 skos:exactMatch ncbigene:50832 semapv:UnspecifiedMatching +OMIM:604870 MARCO skos:exactMatch hgnc.symbol:6895 semapv:UnspecifiedMatching +OMIM:604870 MARCO skos:exactMatch hgnc.symbol:MARCO semapv:UnspecifiedMatching +OMIM:604870 MARCO skos:exactMatch ncbigene:8685 semapv:UnspecifiedMatching +OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:7172 semapv:UnspecifiedMatching +OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:MMP24 semapv:UnspecifiedMatching +OMIM:604871 MMP24 skos:exactMatch ncbigene:10893 semapv:UnspecifiedMatching +OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:8748 semapv:UnspecifiedMatching +OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:PCSK7 semapv:UnspecifiedMatching +OMIM:604872 PCSK7 skos:exactMatch ncbigene:9159 semapv:UnspecifiedMatching +OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:3496 semapv:UnspecifiedMatching +OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:MPZL2 semapv:UnspecifiedMatching +OMIM:604873 MPZL2 skos:exactMatch ncbigene:10205 semapv:UnspecifiedMatching +OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:6380 semapv:UnspecifiedMatching +OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:KLRG1 semapv:UnspecifiedMatching +OMIM:604874 KLRG1 skos:exactMatch ncbigene:10219 semapv:UnspecifiedMatching +OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:7608 semapv:UnspecifiedMatching +OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:MYO9A semapv:UnspecifiedMatching +OMIM:604875 MYO9A skos:exactMatch ncbigene:4649 semapv:UnspecifiedMatching +OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:3041 semapv:UnspecifiedMatching +OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:RCAN2 semapv:UnspecifiedMatching +OMIM:604876 RCAN2 skos:exactMatch ncbigene:10231 semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch UMLS:C1416967 semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch hgnc.symbol:6780 semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch hgnc.symbol:MAFF semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch ncbigene:23764 semapv:UnspecifiedMatching +OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:10914 semapv:UnspecifiedMatching +OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:SLC12A6 semapv:UnspecifiedMatching +OMIM:604878 SLC12A6 skos:exactMatch ncbigene:9990 semapv:UnspecifiedMatching +OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:10915 semapv:UnspecifiedMatching +OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:SLC12A7 semapv:UnspecifiedMatching +OMIM:604879 SLC12A7 skos:exactMatch ncbigene:10723 semapv:UnspecifiedMatching +OMIM:604881 RPH3AL skos:exactMatch UMLS:C1419624 semapv:UnspecifiedMatching +OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:10296 semapv:UnspecifiedMatching +OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:RPH3AL semapv:UnspecifiedMatching +OMIM:604881 RPH3AL skos:exactMatch ncbigene:9501 semapv:UnspecifiedMatching +OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:13806 semapv:UnspecifiedMatching +OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:NEUROG3 semapv:UnspecifiedMatching +OMIM:604882 NEUROG3 skos:exactMatch ncbigene:50674 semapv:UnspecifiedMatching +OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:4665 semapv:UnspecifiedMatching +OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:GTF3C2 semapv:UnspecifiedMatching +OMIM:604883 GTF3C2 skos:exactMatch ncbigene:2976 semapv:UnspecifiedMatching +OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:7749 semapv:UnspecifiedMatching +OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:NEK6 semapv:UnspecifiedMatching +OMIM:604884 NEK6 skos:exactMatch ncbigene:10783 semapv:UnspecifiedMatching +OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:7546 semapv:UnspecifiedMatching +OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:MYBBP1A semapv:UnspecifiedMatching +OMIM:604885 MYBBP1A skos:exactMatch ncbigene:10514 semapv:UnspecifiedMatching +OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:7864 semapv:UnspecifiedMatching +OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:EMC8 semapv:UnspecifiedMatching +OMIM:604886 EMC8 skos:exactMatch ncbigene:10328 semapv:UnspecifiedMatching +OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:7434 semapv:UnspecifiedMatching +OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:MTHFD2 semapv:UnspecifiedMatching +OMIM:604887 MTHFD2 skos:exactMatch ncbigene:10797 semapv:UnspecifiedMatching +OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:4666 semapv:UnspecifiedMatching +OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:GTF3C3 semapv:UnspecifiedMatching +OMIM:604888 GTF3C3 skos:exactMatch ncbigene:9330 semapv:UnspecifiedMatching +OMIM:604889 NBEA skos:exactMatch hgnc.symbol:7648 semapv:UnspecifiedMatching +OMIM:604889 NBEA skos:exactMatch hgnc.symbol:NBEA semapv:UnspecifiedMatching +OMIM:604889 NBEA skos:exactMatch ncbigene:26960 semapv:UnspecifiedMatching +OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:4668 semapv:UnspecifiedMatching +OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:GTF3C5 semapv:UnspecifiedMatching +OMIM:604890 GTF3C5 skos:exactMatch ncbigene:9328 semapv:UnspecifiedMatching +OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:7666 semapv:UnspecifiedMatching +OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:NCKAP1 semapv:UnspecifiedMatching +OMIM:604891 NCKAP1 skos:exactMatch ncbigene:10787 semapv:UnspecifiedMatching +OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:4667 semapv:UnspecifiedMatching +OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:GTF3C4 semapv:UnspecifiedMatching +OMIM:604892 GTF3C4 skos:exactMatch ncbigene:9329 semapv:UnspecifiedMatching +OMIM:604893 AIRN skos:exactMatch hgnc.symbol:34515 semapv:UnspecifiedMatching +OMIM:604893 AIRN skos:exactMatch hgnc.symbol:AIRN semapv:UnspecifiedMatching +OMIM:604893 AIRN skos:exactMatch ncbigene:100271873 semapv:UnspecifiedMatching +OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:8139 semapv:UnspecifiedMatching +OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:ONECUT2 semapv:UnspecifiedMatching +OMIM:604894 ONECUT2 skos:exactMatch ncbigene:9480 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch UMLS:C1420610 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch UMLS:C1858067 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch UMLS:C1876174 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:11599 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:TBX21 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch ncbigene:30009 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C1417174 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C1858054 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch UMLS:C4016908 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch hgnc.symbol:7108 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch hgnc.symbol:MKKS semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch ncbigene:8195 semapv:UnspecifiedMatching +OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:8866 semapv:UnspecifiedMatching +OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:PFDN1 semapv:UnspecifiedMatching +OMIM:604897 PFDN1 skos:exactMatch ncbigene:5201 semapv:UnspecifiedMatching +OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:8868 semapv:UnspecifiedMatching +OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:PFDN4 semapv:UnspecifiedMatching +OMIM:604898 PFDN4 skos:exactMatch ncbigene:5203 semapv:UnspecifiedMatching +OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:8869 semapv:UnspecifiedMatching +OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:PFDN5 semapv:UnspecifiedMatching +OMIM:604899 PFDN5 skos:exactMatch ncbigene:5204 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch UMLS:C1414024 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch UMLS:C4014516 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:2843 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:DGAT1 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch ncbigene:8694 semapv:UnspecifiedMatching +OMIM:604901 north american indian childhood cirrhosis skos:exactMatch MONDO:0011497 semapv:UnspecifiedMatching +OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:11551 semapv:UnspecifiedMatching +OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:BRF1 semapv:UnspecifiedMatching +OMIM:604902 BRF1 skos:exactMatch ncbigene:2972 semapv:UnspecifiedMatching +OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:11532 semapv:UnspecifiedMatching +OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:TAF1A semapv:UnspecifiedMatching +OMIM:604903 TAF1A skos:exactMatch ncbigene:9015 semapv:UnspecifiedMatching +OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:11533 semapv:UnspecifiedMatching +OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:TAF1B semapv:UnspecifiedMatching +OMIM:604904 TAF1B skos:exactMatch ncbigene:9014 semapv:UnspecifiedMatching +OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:11534 semapv:UnspecifiedMatching +OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:TAF1C semapv:UnspecifiedMatching +OMIM:604905 TAF1C skos:exactMatch ncbigene:9013 semapv:UnspecifiedMatching +OMIM:604906 schizophrenia 9 skos:exactMatch MONDO:0011498 semapv:UnspecifiedMatching +OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:18153 semapv:UnspecifiedMatching +OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:TNFRSF13B semapv:UnspecifiedMatching +OMIM:604907 TNFRSF13B skos:exactMatch ncbigene:23495 semapv:UnspecifiedMatching +OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:9320 semapv:UnspecifiedMatching +OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:PPP4R1 semapv:UnspecifiedMatching +OMIM:604908 PPP4R1 skos:exactMatch ncbigene:9989 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch UMLS:C1417764 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:7878 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:CNOT2 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch ncbigene:4848 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch UMLS:C1417765 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:7879 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:CNOT3 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch ncbigene:4849 semapv:UnspecifiedMatching +OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:7880 semapv:UnspecifiedMatching +OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:CNOT4 semapv:UnspecifiedMatching +OMIM:604911 CNOT4 skos:exactMatch ncbigene:4850 semapv:UnspecifiedMatching +OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:11536 semapv:UnspecifiedMatching +OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:TAF2 semapv:UnspecifiedMatching +OMIM:604912 TAF2 skos:exactMatch ncbigene:6873 semapv:UnspecifiedMatching +OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:14101 semapv:UnspecifiedMatching +OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:CNOT7 semapv:UnspecifiedMatching +OMIM:604913 CNOT7 skos:exactMatch ncbigene:29883 semapv:UnspecifiedMatching +OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:19355 semapv:UnspecifiedMatching +OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:JMJD6 semapv:UnspecifiedMatching +OMIM:604914 JMJD6 skos:exactMatch ncbigene:23210 semapv:UnspecifiedMatching +OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:6852 semapv:UnspecifiedMatching +OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:MAP3K13 semapv:UnspecifiedMatching +OMIM:604915 MAP3K13 skos:exactMatch ncbigene:9175 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch UMLS:C1417763 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:7877 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:CNOT1 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch ncbigene:23019 semapv:UnspecifiedMatching +OMIM:604918 PCLO skos:exactMatch hgnc.symbol:13406 semapv:UnspecifiedMatching +OMIM:604918 PCLO skos:exactMatch hgnc.symbol:PCLO semapv:UnspecifiedMatching +OMIM:604918 PCLO skos:exactMatch ncbigene:27445 semapv:UnspecifiedMatching +OMIM:604919 becker nevus syndrome skos:exactMatch MONDO:0011500 semapv:UnspecifiedMatching +OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:6865 semapv:UnspecifiedMatching +OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:MAP4K3 semapv:UnspecifiedMatching +OMIM:604921 MAP4K3 skos:exactMatch ncbigene:8491 semapv:UnspecifiedMatching +OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta skos:exactMatch MONDO:0011501 semapv:UnspecifiedMatching +OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:6867 semapv:UnspecifiedMatching +OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:MAP4K5 semapv:UnspecifiedMatching +OMIM:604923 MAP4K5 skos:exactMatch ncbigene:11183 semapv:UnspecifiedMatching +OMIM:604924 PHAX skos:exactMatch hgnc.symbol:10241 semapv:UnspecifiedMatching +OMIM:604924 PHAX skos:exactMatch hgnc.symbol:PHAX semapv:UnspecifiedMatching +OMIM:604924 PHAX skos:exactMatch ncbigene:51808 semapv:UnspecifiedMatching +OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:9794 semapv:UnspecifiedMatching +OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:RABAC1 semapv:UnspecifiedMatching +OMIM:604925 RABAC1 skos:exactMatch ncbigene:10567 semapv:UnspecifiedMatching +OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:2498 semapv:UnspecifiedMatching +OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:CTDP1 semapv:UnspecifiedMatching +OMIM:604927 CTDP1 skos:exactMatch ncbigene:9150 semapv:UnspecifiedMatching +OMIM:604928 wolfram syndrome 2 skos:exactMatch MONDO:0011502 semapv:UnspecifiedMatching +OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:7665 semapv:UnspecifiedMatching +OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:NCK2 semapv:UnspecifiedMatching +OMIM:604930 NCK2 skos:exactMatch ncbigene:8440 semapv:UnspecifiedMatching +OMIM:604931 cortisone reductase deficiency 1 skos:exactMatch MONDO:0011503 semapv:UnspecifiedMatching +OMIM:604932 PKIG skos:exactMatch hgnc.symbol:9019 semapv:UnspecifiedMatching +OMIM:604932 PKIG skos:exactMatch hgnc.symbol:PKIG semapv:UnspecifiedMatching +OMIM:604932 PKIG skos:exactMatch ncbigene:11142 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch UMLS:C1417505 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:7527 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:MUTYH semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch ncbigene:4595 semapv:UnspecifiedMatching +OMIM:604934 TBCE skos:exactMatch hgnc.symbol:11582 semapv:UnspecifiedMatching +OMIM:604934 TBCE skos:exactMatch hgnc.symbol:TBCE semapv:UnspecifiedMatching +OMIM:604934 TBCE skos:exactMatch ncbigene:6905 semapv:UnspecifiedMatching +OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:2935 semapv:UnspecifiedMatching +OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:DMRT2 semapv:UnspecifiedMatching +OMIM:604935 DMRT2 skos:exactMatch ncbigene:10655 semapv:UnspecifiedMatching +OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:6329 semapv:UnspecifiedMatching +OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:KIR2DL1 semapv:UnspecifiedMatching +OMIM:604936 KIR2DL1 skos:exactMatch ncbigene:3802 semapv:UnspecifiedMatching +OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:6330 semapv:UnspecifiedMatching +OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:KIR2DL2 semapv:UnspecifiedMatching +OMIM:604937 KIR2DL2 skos:exactMatch ncbigene:3803 semapv:UnspecifiedMatching +OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:6331 semapv:UnspecifiedMatching +OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:KIR2DL3 semapv:UnspecifiedMatching +OMIM:604938 KIR2DL3 skos:exactMatch ncbigene:3804 semapv:UnspecifiedMatching +OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:9042 semapv:UnspecifiedMatching +OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:PLA2R1 semapv:UnspecifiedMatching +OMIM:604939 PLA2R1 skos:exactMatch ncbigene:22925 semapv:UnspecifiedMatching +OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:9304 semapv:UnspecifiedMatching +OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:PPP2R2A semapv:UnspecifiedMatching +OMIM:604941 PPP2R2A skos:exactMatch ncbigene:5520 semapv:UnspecifiedMatching +OMIM:604942 SNPH skos:exactMatch hgnc.symbol:15931 semapv:UnspecifiedMatching +OMIM:604942 SNPH skos:exactMatch hgnc.symbol:SNPH semapv:UnspecifiedMatching +OMIM:604942 SNPH skos:exactMatch ncbigene:9751 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch UMLS:C1822756 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch UMLS:C3151230 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:9359 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:SLC26A5 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch ncbigene:375611 semapv:UnspecifiedMatching +OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:9307 semapv:UnspecifiedMatching +OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:PPP2R3A semapv:UnspecifiedMatching +OMIM:604944 PPP2R3A skos:exactMatch ncbigene:5523 semapv:UnspecifiedMatching +OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:6332 semapv:UnspecifiedMatching +OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:KIR2DL4 semapv:UnspecifiedMatching +OMIM:604945 KIR2DL4 skos:exactMatch ncbigene:3805 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416652 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416654 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C4016912 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:6338 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:KIR3DL1 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch ncbigene:3811 semapv:UnspecifiedMatching +OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:6339 semapv:UnspecifiedMatching +OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:KIR3DL2 semapv:UnspecifiedMatching +OMIM:604947 KIR3DL2 skos:exactMatch ncbigene:3812 semapv:UnspecifiedMatching +OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:4096 semapv:UnspecifiedMatching +OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:GADD45B semapv:UnspecifiedMatching +OMIM:604948 GADD45B skos:exactMatch ncbigene:4616 semapv:UnspecifiedMatching +OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:4097 semapv:UnspecifiedMatching +OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:GADD45G semapv:UnspecifiedMatching +OMIM:604949 GADD45G skos:exactMatch ncbigene:10912 semapv:UnspecifiedMatching +OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:8939 semapv:UnspecifiedMatching +OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:PHTF1 semapv:UnspecifiedMatching +OMIM:604950 PHTF1 skos:exactMatch ncbigene:10745 semapv:UnspecifiedMatching +OMIM:604951 PGLS skos:exactMatch hgnc.symbol:8903 semapv:UnspecifiedMatching +OMIM:604951 PGLS skos:exactMatch hgnc.symbol:PGLS semapv:UnspecifiedMatching +OMIM:604951 PGLS skos:exactMatch ncbigene:25796 semapv:UnspecifiedMatching +OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:6333 semapv:UnspecifiedMatching +OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:KIR2DS1 semapv:UnspecifiedMatching +OMIM:604952 KIR2DS1 skos:exactMatch ncbigene:3806 semapv:UnspecifiedMatching +OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:6334 semapv:UnspecifiedMatching +OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:KIR2DS2 semapv:UnspecifiedMatching +OMIM:604953 KIR2DS2 skos:exactMatch ncbigene:100132285 semapv:UnspecifiedMatching +OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:6335 semapv:UnspecifiedMatching +OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:KIR2DS3 semapv:UnspecifiedMatching +OMIM:604954 KIR2DS3 skos:exactMatch ncbigene:3808 semapv:UnspecifiedMatching +OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:6336 semapv:UnspecifiedMatching +OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:KIR2DS4 semapv:UnspecifiedMatching +OMIM:604955 KIR2DS4 skos:exactMatch ncbigene:3809 semapv:UnspecifiedMatching +OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:6337 semapv:UnspecifiedMatching +OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:KIR2DS5 semapv:UnspecifiedMatching +OMIM:604956 KIR2DS5 skos:exactMatch ncbigene:3810 semapv:UnspecifiedMatching +OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:24124 semapv:UnspecifiedMatching +OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:ACTL6A semapv:UnspecifiedMatching +OMIM:604958 ACTL6A skos:exactMatch ncbigene:86 semapv:UnspecifiedMatching +OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:9108 semapv:UnspecifiedMatching +OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:PMAIP1 semapv:UnspecifiedMatching +OMIM:604959 PMAIP1 skos:exactMatch ncbigene:5366 semapv:UnspecifiedMatching +OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:8571 semapv:UnspecifiedMatching +OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:PACSIN2 semapv:UnspecifiedMatching +OMIM:604960 PACSIN2 skos:exactMatch ncbigene:11252 semapv:UnspecifiedMatching +OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:8773 semapv:UnspecifiedMatching +OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:PDE11A semapv:UnspecifiedMatching +OMIM:604961 PDE11A skos:exactMatch ncbigene:50940 semapv:UnspecifiedMatching +OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:30698 semapv:UnspecifiedMatching +OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:TRAT1 semapv:UnspecifiedMatching +OMIM:604962 TRAT1 skos:exactMatch ncbigene:50852 semapv:UnspecifiedMatching +OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:8904 semapv:UnspecifiedMatching +OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:PGLYRP1 semapv:UnspecifiedMatching +OMIM:604963 PGLYRP1 skos:exactMatch ncbigene:8993 semapv:UnspecifiedMatching +OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:17710 semapv:UnspecifiedMatching +OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:SIT1 semapv:UnspecifiedMatching +OMIM:604964 SIT1 skos:exactMatch ncbigene:27240 semapv:UnspecifiedMatching +OMIM:604965 STK4 skos:exactMatch hgnc.symbol:11408 semapv:UnspecifiedMatching +OMIM:604965 STK4 skos:exactMatch hgnc.symbol:STK4 semapv:UnspecifiedMatching +OMIM:604965 STK4 skos:exactMatch ncbigene:6789 semapv:UnspecifiedMatching +OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:8662 semapv:UnspecifiedMatching +OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:PCDHA@ semapv:UnspecifiedMatching +OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:8679 semapv:UnspecifiedMatching +OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:PCDHB@ semapv:UnspecifiedMatching +OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:8695 semapv:UnspecifiedMatching +OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:PCDHG@ semapv:UnspecifiedMatching +OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:15605 semapv:UnspecifiedMatching +OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:SKAP1 semapv:UnspecifiedMatching +OMIM:604969 SKAP1 skos:exactMatch ncbigene:8631 semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch UMLS:C1420464 semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch hgnc.symbol:11390 semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch hgnc.symbol:AURKB semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch ncbigene:9212 semapv:UnspecifiedMatching +OMIM:604971 MDFI skos:exactMatch hgnc.symbol:6967 semapv:UnspecifiedMatching +OMIM:604971 MDFI skos:exactMatch hgnc.symbol:MDFI semapv:UnspecifiedMatching +OMIM:604971 MDFI skos:exactMatch ncbigene:4188 semapv:UnspecifiedMatching +OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:8489 semapv:UnspecifiedMatching +OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:ORC3 semapv:UnspecifiedMatching +OMIM:604972 ORC3 skos:exactMatch ncbigene:23595 semapv:UnspecifiedMatching +OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:3625 semapv:UnspecifiedMatching +OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:FCN3 semapv:UnspecifiedMatching +OMIM:604973 FCN3 skos:exactMatch ncbigene:8547 semapv:UnspecifiedMatching +OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:11197 semapv:UnspecifiedMatching +OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:SOX21 semapv:UnspecifiedMatching +OMIM:604974 SOX21 skos:exactMatch ncbigene:11166 semapv:UnspecifiedMatching +OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:11201 semapv:UnspecifiedMatching +OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:SOX5 semapv:UnspecifiedMatching +OMIM:604975 SOX5 skos:exactMatch ncbigene:6660 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch UMLS:C1418906 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:9387 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:PRKAG3 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch ncbigene:53632 semapv:UnspecifiedMatching +OMIM:604977 STK19 skos:exactMatch hgnc.symbol:11398 semapv:UnspecifiedMatching +OMIM:604977 STK19 skos:exactMatch hgnc.symbol:STK19 semapv:UnspecifiedMatching +OMIM:604977 STK19 skos:exactMatch ncbigene:8859 semapv:UnspecifiedMatching +OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:13870 semapv:UnspecifiedMatching +OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:NUDT21 semapv:UnspecifiedMatching +OMIM:604978 NUDT21 skos:exactMatch ncbigene:11051 semapv:UnspecifiedMatching +OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:13871 semapv:UnspecifiedMatching +OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:CPSF6 semapv:UnspecifiedMatching +OMIM:604979 CPSF6 skos:exactMatch ncbigene:11052 semapv:UnspecifiedMatching +OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:9804 semapv:UnspecifiedMatching +OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:RACGAP1 semapv:UnspecifiedMatching +OMIM:604980 RACGAP1 skos:exactMatch ncbigene:29127 semapv:UnspecifiedMatching +OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:12739 semapv:UnspecifiedMatching +OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:WBP4 semapv:UnspecifiedMatching +OMIM:604981 WBP4 skos:exactMatch ncbigene:11193 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch UMLS:C1415707 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:5163 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:HPS1 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch ncbigene:3257 semapv:UnspecifiedMatching +OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:9180 semapv:UnspecifiedMatching +OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:POLG2 semapv:UnspecifiedMatching +OMIM:604983 POLG2 skos:exactMatch ncbigene:11232 semapv:UnspecifiedMatching +OMIM:604984 STK24 skos:exactMatch hgnc.symbol:11403 semapv:UnspecifiedMatching +OMIM:604984 STK24 skos:exactMatch hgnc.symbol:STK24 semapv:UnspecifiedMatching +OMIM:604984 STK24 skos:exactMatch ncbigene:8428 semapv:UnspecifiedMatching +OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:11276 semapv:UnspecifiedMatching +OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:SPTBN2 semapv:UnspecifiedMatching +OMIM:604985 SPTBN2 skos:exactMatch ncbigene:6712 semapv:UnspecifiedMatching +OMIM:604986 BRAP skos:exactMatch hgnc.symbol:1099 semapv:UnspecifiedMatching +OMIM:604986 BRAP skos:exactMatch hgnc.symbol:BRAP semapv:UnspecifiedMatching +OMIM:604986 BRAP skos:exactMatch ncbigene:8315 semapv:UnspecifiedMatching +OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:2054 semapv:UnspecifiedMatching +OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:CLEC5A semapv:UnspecifiedMatching +OMIM:604987 CLEC5A skos:exactMatch ncbigene:23601 semapv:UnspecifiedMatching +OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:10962 semapv:UnspecifiedMatching +OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:SLCO2B1 semapv:UnspecifiedMatching +OMIM:604988 SLCO2B1 skos:exactMatch ncbigene:11309 semapv:UnspecifiedMatching +OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:11252 semapv:UnspecifiedMatching +OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:SPON1 semapv:UnspecifiedMatching +OMIM:604989 SPON1 skos:exactMatch ncbigene:10418 semapv:UnspecifiedMatching +OMIM:604990 SLC9A3R1 skos:exactMatch hgnc.symbol:NHERF1 semapv:UnspecifiedMatching +OMIM:604990 SLC9A3R1 skos:exactMatch ncbigene:9368 semapv:UnspecifiedMatching +OMIM:604991 PART1 skos:exactMatch hgnc.symbol:17263 semapv:UnspecifiedMatching +OMIM:604991 PART1 skos:exactMatch hgnc.symbol:PART1 semapv:UnspecifiedMatching +OMIM:604991 PART1 skos:exactMatch ncbigene:25859 semapv:UnspecifiedMatching +OMIM:604992 SRL skos:exactMatch hgnc.symbol:11295 semapv:UnspecifiedMatching +OMIM:604992 SRL skos:exactMatch hgnc.symbol:SRL semapv:UnspecifiedMatching +OMIM:604992 SRL skos:exactMatch ncbigene:6345 semapv:UnspecifiedMatching +OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:17351 semapv:UnspecifiedMatching +OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:PRPF18 semapv:UnspecifiedMatching +OMIM:604993 PRPF18 skos:exactMatch ncbigene:8559 semapv:UnspecifiedMatching +OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:10888 semapv:UnspecifiedMatching +OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:SIX2 semapv:UnspecifiedMatching +OMIM:604994 SIX2 skos:exactMatch ncbigene:10736 semapv:UnspecifiedMatching +OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:10971 semapv:UnspecifiedMatching +OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:SLC22A7 semapv:UnspecifiedMatching +OMIM:604995 SLC22A7 skos:exactMatch ncbigene:10864 semapv:UnspecifiedMatching +OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:4027 semapv:UnspecifiedMatching +OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:FXYD3 semapv:UnspecifiedMatching +OMIM:604996 FXYD3 skos:exactMatch ncbigene:5349 semapv:UnspecifiedMatching +OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:2991 semapv:UnspecifiedMatching +OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:DOK2 semapv:UnspecifiedMatching +OMIM:604997 DOK2 skos:exactMatch ncbigene:9046 semapv:UnspecifiedMatching +OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:1459 semapv:UnspecifiedMatching +OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:CAMK1 semapv:UnspecifiedMatching +OMIM:604998 CAMK1 skos:exactMatch ncbigene:8536 semapv:UnspecifiedMatching +OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:15474 semapv:UnspecifiedMatching +OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:SHANK1 semapv:UnspecifiedMatching +OMIM:604999 SHANK1 skos:exactMatch ncbigene:50944 semapv:UnspecifiedMatching +OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:2252 semapv:UnspecifiedMatching +OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:CORO1A semapv:UnspecifiedMatching +OMIM:605000 CORO1A skos:exactMatch ncbigene:11151 semapv:UnspecifiedMatching +OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:490 semapv:UnspecifiedMatching +OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:ANGPTL2 semapv:UnspecifiedMatching +OMIM:605001 ANGPTL2 skos:exactMatch ncbigene:23452 semapv:UnspecifiedMatching +OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:2256 semapv:UnspecifiedMatching +OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:CORO2B semapv:UnspecifiedMatching +OMIM:605002 CORO2B skos:exactMatch ncbigene:10391 semapv:UnspecifiedMatching +OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:20944 semapv:UnspecifiedMatching +OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:SENP6 semapv:UnspecifiedMatching +OMIM:605003 SENP6 skos:exactMatch ncbigene:26054 semapv:UnspecifiedMatching +OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:4617 semapv:UnspecifiedMatching +OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:GSK3B semapv:UnspecifiedMatching +OMIM:605004 GSK3B skos:exactMatch ncbigene:2932 semapv:UnspecifiedMatching +OMIM:605005 GALNT7 skos:exactMatch UMLS:C1414957 semapv:UnspecifiedMatching +OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:4129 semapv:UnspecifiedMatching +OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:GALNT7 semapv:UnspecifiedMatching +OMIM:605005 GALNT7 skos:exactMatch ncbigene:51809 semapv:UnspecifiedMatching +OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:16048 semapv:UnspecifiedMatching +OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:FRAT2 semapv:UnspecifiedMatching +OMIM:605006 FRAT2 skos:exactMatch ncbigene:23401 semapv:UnspecifiedMatching +OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:221 semapv:UnspecifiedMatching +OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:ADAMTS5 semapv:UnspecifiedMatching +OMIM:605007 ADAMTS5 skos:exactMatch ncbigene:11096 semapv:UnspecifiedMatching +OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:222 semapv:UnspecifiedMatching +OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:ADAMTS6 semapv:UnspecifiedMatching +OMIM:605008 ADAMTS6 skos:exactMatch ncbigene:11174 semapv:UnspecifiedMatching +OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:223 semapv:UnspecifiedMatching +OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:ADAMTS7 semapv:UnspecifiedMatching +OMIM:605009 ADAMTS7 skos:exactMatch ncbigene:11173 semapv:UnspecifiedMatching +OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:15464 semapv:UnspecifiedMatching +OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:SPINK5 semapv:UnspecifiedMatching +OMIM:605010 SPINK5 skos:exactMatch ncbigene:11005 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C1412209 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C4748408 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:219 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:ADAMTS3 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch ncbigene:9508 semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch UMLS:C1420522 semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:11465 semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:SUPT16H semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch ncbigene:11198 semapv:UnspecifiedMatching +OMIM:605013 microhydranencephaly skos:exactMatch MONDO:0011504 semapv:UnspecifiedMatching +OMIM:605014 STX11 skos:exactMatch hgnc.symbol:11429 semapv:UnspecifiedMatching +OMIM:605014 STX11 skos:exactMatch hgnc.symbol:STX11 semapv:UnspecifiedMatching +OMIM:605014 STX11 skos:exactMatch ncbigene:8676 semapv:UnspecifiedMatching +OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:13006 semapv:UnspecifiedMatching +OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:ZNF214 semapv:UnspecifiedMatching +OMIM:605015 ZNF214 skos:exactMatch ncbigene:7761 semapv:UnspecifiedMatching +OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:13007 semapv:UnspecifiedMatching +OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:ZNF215 semapv:UnspecifiedMatching +OMIM:605016 ZNF215 skos:exactMatch ncbigene:7762 semapv:UnspecifiedMatching +OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:12710 semapv:UnspecifiedMatching +OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:VPREB3 semapv:UnspecifiedMatching +OMIM:605017 VPREB3 skos:exactMatch ncbigene:29802 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1413850 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1851526 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C1857941 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch UMLS:C5436881 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch hgnc.symbol:2584 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch hgnc.symbol:CYLD semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch ncbigene:1540 semapv:UnspecifiedMatching +OMIM:605019 hypobetalipoproteinemia, familial, 2 skos:exactMatch MONDO:0011505 semapv:UnspecifiedMatching +OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:12723 semapv:UnspecifiedMatching +OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:VSX1 semapv:UnspecifiedMatching +OMIM:605020 VSX1 skos:exactMatch ncbigene:30813 semapv:UnspecifiedMatching +OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch MONDO:0011506 semapv:UnspecifiedMatching +OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch Orphanet:352582 semapv:UnspecifiedMatching +OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching +OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:8591 semapv:UnspecifiedMatching +OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:PAK2 semapv:UnspecifiedMatching +OMIM:605022 PAK2 skos:exactMatch ncbigene:5062 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch UMLS:C1415468 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:4809 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:HAO1 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch ncbigene:54363 semapv:UnspecifiedMatching +OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:11034 semapv:UnspecifiedMatching +OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:SLC4A8 semapv:UnspecifiedMatching +OMIM:605024 SLC4A8 skos:exactMatch ncbigene:9498 semapv:UnspecifiedMatching +OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:6139 semapv:UnspecifiedMatching +OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:ITGA3 semapv:UnspecifiedMatching +OMIM:605025 ITGA3 skos:exactMatch ncbigene:3675 semapv:UnspecifiedMatching +OMIM:605026 diabetes mellitus, congenital autoimmune skos:exactMatch MONDO:0011507 semapv:UnspecifiedMatching +OMIM:605027 lymphoma, non-hodgkin, familial skos:exactMatch MONDO:0011508 semapv:UnspecifiedMatching +OMIM:605028 low density lipoprotein cholesterol, mild elevation of skos:exactMatch MONDO:0011509 semapv:UnspecifiedMatching +OMIM:605029 KLRF1 skos:exactMatch UMLS:C1421942 semapv:UnspecifiedMatching +OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:13342 semapv:UnspecifiedMatching +OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:KLRF1 semapv:UnspecifiedMatching +OMIM:605029 KLRF1 skos:exactMatch ncbigene:51348 semapv:UnspecifiedMatching +OMIM:605030 STK3 skos:exactMatch hgnc.symbol:11406 semapv:UnspecifiedMatching +OMIM:605030 STK3 skos:exactMatch hgnc.symbol:STK3 semapv:UnspecifiedMatching +OMIM:605030 STK3 skos:exactMatch ncbigene:6788 semapv:UnspecifiedMatching +OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:11397 semapv:UnspecifiedMatching +OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:PLK4 semapv:UnspecifiedMatching +OMIM:605031 PLK4 skos:exactMatch ncbigene:10733 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch UMLS:C1413670 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:2309 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:CPLX1 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch ncbigene:10815 semapv:UnspecifiedMatching +OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:2310 semapv:UnspecifiedMatching +OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:CPLX2 semapv:UnspecifiedMatching +OMIM:605033 CPLX2 skos:exactMatch ncbigene:10814 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch UMLS:C1424893 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:17312 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:TIMM23 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch ncbigene:100287932 semapv:UnspecifiedMatching +OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:12732 semapv:UnspecifiedMatching +OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:WASF1 semapv:UnspecifiedMatching +OMIM:605035 WASF1 skos:exactMatch ncbigene:8936 semapv:UnspecifiedMatching +OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:13011 semapv:UnspecifiedMatching +OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:ZNF219 semapv:UnspecifiedMatching +OMIM:605036 ZNF219 skos:exactMatch ncbigene:51222 semapv:UnspecifiedMatching +OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:19167 semapv:UnspecifiedMatching +OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:KIF17 semapv:UnspecifiedMatching +OMIM:605037 KIF17 skos:exactMatch ncbigene:57576 semapv:UnspecifiedMatching +OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:9123 semapv:UnspecifiedMatching +OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:PMS2P1 semapv:UnspecifiedMatching +OMIM:605038 PMS2L1 skos:exactMatch ncbigene:5379 semapv:UnspecifiedMatching +OMIM:605039 bohring-opitz syndrome skos:exactMatch MONDO:0011510 semapv:UnspecifiedMatching +OMIM:605039 bohring-opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching +OMIM:605039 bohring-opitz syndrome skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching +OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch MONDO:0011511 semapv:UnspecifiedMatching +OMIM:605041 brooke-spiegler syndrome skos:exactMatch MONDO:0011512 semapv:UnspecifiedMatching +OMIM:605042 MED23 skos:exactMatch hgnc.symbol:2372 semapv:UnspecifiedMatching +OMIM:605042 MED23 skos:exactMatch hgnc.symbol:MED23 semapv:UnspecifiedMatching +OMIM:605042 MED23 skos:exactMatch ncbigene:9439 semapv:UnspecifiedMatching +OMIM:605043 MED26 skos:exactMatch hgnc.symbol:2376 semapv:UnspecifiedMatching +OMIM:605043 MED26 skos:exactMatch hgnc.symbol:MED26 semapv:UnspecifiedMatching +OMIM:605043 MED26 skos:exactMatch ncbigene:9441 semapv:UnspecifiedMatching +OMIM:605044 MED27 skos:exactMatch hgnc.symbol:2377 semapv:UnspecifiedMatching +OMIM:605044 MED27 skos:exactMatch hgnc.symbol:MED27 semapv:UnspecifiedMatching +OMIM:605044 MED27 skos:exactMatch ncbigene:9442 semapv:UnspecifiedMatching +OMIM:605045 MED7 skos:exactMatch hgnc.symbol:2378 semapv:UnspecifiedMatching +OMIM:605045 MED7 skos:exactMatch hgnc.symbol:MED7 semapv:UnspecifiedMatching +OMIM:605045 MED7 skos:exactMatch ncbigene:9443 semapv:UnspecifiedMatching +OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:12508 semapv:UnspecifiedMatching +OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:UBQLN1 semapv:UnspecifiedMatching +OMIM:605046 UBQLN1 skos:exactMatch ncbigene:29979 semapv:UnspecifiedMatching +OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:6122 semapv:UnspecifiedMatching +OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:IRF7 semapv:UnspecifiedMatching +OMIM:605047 IRF7 skos:exactMatch ncbigene:3665 semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch UMLS:C1422750 semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:14552 semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:IKBKE semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch ncbigene:9641 semapv:UnspecifiedMatching +OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:12429 semapv:UnspecifiedMatching +OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:TWSG1 semapv:UnspecifiedMatching +OMIM:605049 TWSG1 skos:exactMatch ncbigene:57045 semapv:UnspecifiedMatching +OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:2160 semapv:UnspecifiedMatching +OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:CNR2 semapv:UnspecifiedMatching +OMIM:605051 CNR2 skos:exactMatch ncbigene:1269 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch UMLS:C1420585 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:11568 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:TARBP1 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch ncbigene:6894 semapv:UnspecifiedMatching +OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:11569 semapv:UnspecifiedMatching +OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:TARBP2 semapv:UnspecifiedMatching +OMIM:605053 TARBP2 skos:exactMatch ncbigene:6895 semapv:UnspecifiedMatching +OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:10757 semapv:UnspecifiedMatching +OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:SERF2 semapv:UnspecifiedMatching +OMIM:605054 SERF2 skos:exactMatch ncbigene:10169 semapv:UnspecifiedMatching +OMIM:605055 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch MONDO:0011513 semapv:UnspecifiedMatching +OMIM:605056 WASL skos:exactMatch hgnc.symbol:12735 semapv:UnspecifiedMatching +OMIM:605056 WASL skos:exactMatch hgnc.symbol:WASL semapv:UnspecifiedMatching +OMIM:605056 WASL skos:exactMatch ncbigene:8976 semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch UMLS:C1424895 semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:17315 semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:TIMM17A semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch ncbigene:10440 semapv:UnspecifiedMatching +OMIM:605058 TIMM44 skos:exactMatch UMLS:C1424896 semapv:UnspecifiedMatching +OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:17316 semapv:UnspecifiedMatching +OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:TIMM44 semapv:UnspecifiedMatching +OMIM:605058 TIMM44 skos:exactMatch ncbigene:10469 semapv:UnspecifiedMatching +OMIM:605060 SHPK skos:exactMatch hgnc.symbol:1492 semapv:UnspecifiedMatching +OMIM:605060 SHPK skos:exactMatch hgnc.symbol:SHPK semapv:UnspecifiedMatching +OMIM:605060 SHPK skos:exactMatch ncbigene:23729 semapv:UnspecifiedMatching +OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:19246 semapv:UnspecifiedMatching +OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:TERF2IP semapv:UnspecifiedMatching +OMIM:605061 TERF2IP skos:exactMatch ncbigene:54386 semapv:UnspecifiedMatching +OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:14912 semapv:UnspecifiedMatching +OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:TAS2R5 semapv:UnspecifiedMatching +OMIM:605062 TAS2R5 skos:exactMatch ncbigene:54429 semapv:UnspecifiedMatching +OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:11387 semapv:UnspecifiedMatching +OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:STIP1 semapv:UnspecifiedMatching +OMIM:605063 STIP1 skos:exactMatch ncbigene:10963 semapv:UnspecifiedMatching +OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:6392 semapv:UnspecifiedMatching +OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:KIF23 semapv:UnspecifiedMatching +OMIM:605064 KIF23 skos:exactMatch ncbigene:9493 semapv:UnspecifiedMatching +OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:1735 semapv:UnspecifiedMatching +OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:CDC37 semapv:UnspecifiedMatching +OMIM:605065 CDC37 skos:exactMatch ncbigene:11140 semapv:UnspecifiedMatching +OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:12851 semapv:UnspecifiedMatching +OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:YWHAE semapv:UnspecifiedMatching +OMIM:605066 YWHAE skos:exactMatch ncbigene:7531 semapv:UnspecifiedMatching +OMIM:605067 tricuspid atresia skos:exactMatch MONDO:0011514 semapv:UnspecifiedMatching +OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:12734 semapv:UnspecifiedMatching +OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:WASF3 semapv:UnspecifiedMatching +OMIM:605068 WASF3 skos:exactMatch ncbigene:10810 semapv:UnspecifiedMatching +OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:7111 semapv:UnspecifiedMatching +OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:MKNK2 semapv:UnspecifiedMatching +OMIM:605069 MKNK2 skos:exactMatch ncbigene:2872 semapv:UnspecifiedMatching +OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:3185 semapv:UnspecifiedMatching +OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:EEA1 semapv:UnspecifiedMatching +OMIM:605070 EEA1 skos:exactMatch ncbigene:8411 semapv:UnspecifiedMatching +OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:13735 semapv:UnspecifiedMatching +OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:RGS19 semapv:UnspecifiedMatching +OMIM:605071 RGS19 skos:exactMatch ncbigene:10287 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch UMLS:C1825351 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:1226 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:GIPC1 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch ncbigene:10755 semapv:UnspecifiedMatching +OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:7523 semapv:UnspecifiedMatching +OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:TRIM37 semapv:UnspecifiedMatching +OMIM:605073 TRIM37 skos:exactMatch ncbigene:4591 semapv:UnspecifiedMatching +OMIM:605074 renal cell carcinoma, papillary, 1 skos:exactMatch MONDO:0003789 semapv:UnspecifiedMatching +OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:11135 semapv:UnspecifiedMatching +OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:SNAPC2 semapv:UnspecifiedMatching +OMIM:605076 SNAPC2 skos:exactMatch ncbigene:6618 semapv:UnspecifiedMatching +OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:18291 semapv:UnspecifiedMatching +OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:DMAP1 semapv:UnspecifiedMatching +OMIM:605077 DNMAP1 skos:exactMatch ncbigene:55929 semapv:UnspecifiedMatching +OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:11571 semapv:UnspecifiedMatching +OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:TARDBP semapv:UnspecifiedMatching +OMIM:605078 TARDBP skos:exactMatch ncbigene:23435 semapv:UnspecifiedMatching +OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:10527 semapv:UnspecifiedMatching +OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:SALL3 semapv:UnspecifiedMatching +OMIM:605079 SALL3 skos:exactMatch ncbigene:27164 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch UMLS:C1413548 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch UMLS:C1849792 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:2153 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:CNGB3 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch ncbigene:54714 semapv:UnspecifiedMatching +OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:9504 semapv:UnspecifiedMatching +OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:CYTH3 semapv:UnspecifiedMatching +OMIM:605081 CYTH3 skos:exactMatch ncbigene:9265 semapv:UnspecifiedMatching +OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:9882 semapv:UnspecifiedMatching +OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:RASSF1 semapv:UnspecifiedMatching +OMIM:605082 RASSF1 skos:exactMatch ncbigene:11186 semapv:UnspecifiedMatching +OMIM:605083 FRZB skos:exactMatch hgnc.symbol:3959 semapv:UnspecifiedMatching +OMIM:605083 FRZB skos:exactMatch hgnc.symbol:FRZB semapv:UnspecifiedMatching +OMIM:605083 FRZB skos:exactMatch ncbigene:2487 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch UMLS:C1413147 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:1530 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:MICU1 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch ncbigene:10367 semapv:UnspecifiedMatching +OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:17760 semapv:UnspecifiedMatching +OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:TREM1 semapv:UnspecifiedMatching +OMIM:605085 TREM1 skos:exactMatch ncbigene:54210 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch UMLS:C1425067 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:17761 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:TREM2 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch ncbigene:54209 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch UMLS:C1418566 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch UMLS:C5394575 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch UMLS:C5394576 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch hgnc.symbol:8965 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch hgnc.symbol:PIGK semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch ncbigene:10026 semapv:UnspecifiedMatching +OMIM:605088 MVP skos:exactMatch hgnc.symbol:7531 semapv:UnspecifiedMatching +OMIM:605088 MVP skos:exactMatch hgnc.symbol:MVP semapv:UnspecifiedMatching +OMIM:605088 MVP skos:exactMatch ncbigene:9961 semapv:UnspecifiedMatching +OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:14491 semapv:UnspecifiedMatching +OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:MRPL40 semapv:UnspecifiedMatching +OMIM:605089 MRPL40 skos:exactMatch ncbigene:64976 semapv:UnspecifiedMatching +OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:9867 semapv:UnspecifiedMatching +OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:RARRES1 semapv:UnspecifiedMatching +OMIM:605090 RARRES1 skos:exactMatch ncbigene:5918 semapv:UnspecifiedMatching +OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:3664 semapv:UnspecifiedMatching +OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:FGD2 semapv:UnspecifiedMatching +OMIM:605091 FGD2 skos:exactMatch ncbigene:221472 semapv:UnspecifiedMatching +OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:9869 semapv:UnspecifiedMatching +OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:PLAAT4 semapv:UnspecifiedMatching +OMIM:605092 PLAAT4 skos:exactMatch ncbigene:5920 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch UMLS:C1822705 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch UMLS:C3805370 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:29605 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:SH2B3 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch ncbigene:10019 semapv:UnspecifiedMatching +OMIM:605094 STEAP2 skos:exactMatch hgnc.symbol:17885 semapv:UnspecifiedMatching +OMIM:605094 STEAP2 skos:exactMatch hgnc.symbol:STEAP2 semapv:UnspecifiedMatching +OMIM:605094 STEAP2 skos:exactMatch ncbigene:261729 semapv:UnspecifiedMatching +OMIM:605096 ANO7 skos:exactMatch hgnc.symbol:31677 semapv:UnspecifiedMatching +OMIM:605096 ANO7 skos:exactMatch hgnc.symbol:ANO7 semapv:UnspecifiedMatching +OMIM:605096 ANO7 skos:exactMatch ncbigene:50636 semapv:UnspecifiedMatching +OMIM:605097 SLC45A3 skos:exactMatch UMLS:C1822765 semapv:UnspecifiedMatching +OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:8642 semapv:UnspecifiedMatching +OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:SLC45A3 semapv:UnspecifiedMatching +OMIM:605097 SLC45A3 skos:exactMatch ncbigene:85414 semapv:UnspecifiedMatching +OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:9277 semapv:UnspecifiedMatching +OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:PPM1D semapv:UnspecifiedMatching +OMIM:605100 PPM1D skos:exactMatch ncbigene:8493 semapv:UnspecifiedMatching +OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:17075 semapv:UnspecifiedMatching +OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:TAB2 semapv:UnspecifiedMatching +OMIM:605101 TAB2 skos:exactMatch ncbigene:23118 semapv:UnspecifiedMatching +OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:6902 semapv:UnspecifiedMatching +OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:MASP2 semapv:UnspecifiedMatching +OMIM:605102 MASP2 skos:exactMatch ncbigene:10747 semapv:UnspecifiedMatching +OMIM:605103 NMU skos:exactMatch hgnc.symbol:7859 semapv:UnspecifiedMatching +OMIM:605103 NMU skos:exactMatch hgnc.symbol:NMU semapv:UnspecifiedMatching +OMIM:605103 NMU skos:exactMatch ncbigene:10874 semapv:UnspecifiedMatching +OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:18222 semapv:UnspecifiedMatching +OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:RBFOX1 semapv:UnspecifiedMatching +OMIM:605104 RBFOX1 skos:exactMatch ncbigene:54715 semapv:UnspecifiedMatching +OMIM:605105 early response to neural induction gene skos:exactMatch MONDO:0011516 semapv:UnspecifiedMatching +OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:14298 semapv:UnspecifiedMatching +OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:LPAR3 semapv:UnspecifiedMatching +OMIM:605106 LPAR3 skos:exactMatch ncbigene:23566 semapv:UnspecifiedMatching +OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:3164 semapv:UnspecifiedMatching +OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:EDF1 semapv:UnspecifiedMatching +OMIM:605107 EDF1 skos:exactMatch ncbigene:8721 semapv:UnspecifiedMatching +OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:16454 semapv:UnspecifiedMatching +OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:NMUR2 semapv:UnspecifiedMatching +OMIM:605108 NMUR2 skos:exactMatch ncbigene:56923 semapv:UnspecifiedMatching +OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:4867 semapv:UnspecifiedMatching +OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:HERC1 semapv:UnspecifiedMatching +OMIM:605109 HERC1 skos:exactMatch ncbigene:8925 semapv:UnspecifiedMatching +OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:3168 semapv:UnspecifiedMatching +OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:LPAR2 semapv:UnspecifiedMatching +OMIM:605110 LPAR2 skos:exactMatch ncbigene:9170 semapv:UnspecifiedMatching +OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:3169 semapv:UnspecifiedMatching +OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:S1PR2 semapv:UnspecifiedMatching +OMIM:605111 S1PR2 skos:exactMatch ncbigene:9294 semapv:UnspecifiedMatching +OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:11873 semapv:UnspecifiedMatching +OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:TMOD3 semapv:UnspecifiedMatching +OMIM:605112 TMOD3 skos:exactMatch ncbigene:29766 semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch UMLS:C1424938 semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch hgnc.symbol:17366 semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch hgnc.symbol:AASS semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch ncbigene:10157 semapv:UnspecifiedMatching +OMIM:605114 SPO11 skos:exactMatch UMLS:C1335860 semapv:UnspecifiedMatching +OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:11250 semapv:UnspecifiedMatching +OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:SPO11 semapv:UnspecifiedMatching +OMIM:605114 SPO11 skos:exactMatch ncbigene:23626 semapv:UnspecifiedMatching +OMIM:605115 hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy skos:exactMatch MONDO:0011517 semapv:UnspecifiedMatching +OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:14079 semapv:UnspecifiedMatching +OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:CHRNA9 semapv:UnspecifiedMatching +OMIM:605116 CHRNA9 skos:exactMatch ncbigene:55584 semapv:UnspecifiedMatching +OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:19382 semapv:UnspecifiedMatching +OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:SOCS2 semapv:UnspecifiedMatching +OMIM:605117 SOCS2 skos:exactMatch ncbigene:8835 semapv:UnspecifiedMatching +OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:16833 semapv:UnspecifiedMatching +OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:SOCS6 semapv:UnspecifiedMatching +OMIM:605118 SOCS6 skos:exactMatch ncbigene:9306 semapv:UnspecifiedMatching +OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:9278 semapv:UnspecifiedMatching +OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:PPM1G semapv:UnspecifiedMatching +OMIM:605119 PPM1G skos:exactMatch ncbigene:5496 semapv:UnspecifiedMatching +OMIM:605120 GDF2 skos:exactMatch hgnc.symbol:4217 semapv:UnspecifiedMatching +OMIM:605120 GDF2 skos:exactMatch hgnc.symbol:GDF2 semapv:UnspecifiedMatching +OMIM:605120 GDF2 skos:exactMatch ncbigene:2658 semapv:UnspecifiedMatching +OMIM:605121 RRN3 skos:exactMatch hgnc.symbol:30346 semapv:UnspecifiedMatching +OMIM:605121 RRN3 skos:exactMatch hgnc.symbol:RRN3 semapv:UnspecifiedMatching +OMIM:605121 RRN3 skos:exactMatch ncbigene:54700 semapv:UnspecifiedMatching +OMIM:605122 SUPV3L1 skos:exactMatch hgnc.symbol:11471 semapv:UnspecifiedMatching +OMIM:605122 SUPV3L1 skos:exactMatch hgnc.symbol:SUPV3L1 semapv:UnspecifiedMatching +OMIM:605122 SUPV3L1 skos:exactMatch ncbigene:6832 semapv:UnspecifiedMatching +OMIM:605123 SPINT1 skos:exactMatch hgnc.symbol:11246 semapv:UnspecifiedMatching +OMIM:605123 SPINT1 skos:exactMatch hgnc.symbol:SPINT1 semapv:UnspecifiedMatching +OMIM:605123 SPINT1 skos:exactMatch ncbigene:6692 semapv:UnspecifiedMatching +OMIM:605124 SPINT2 skos:exactMatch hgnc.symbol:11247 semapv:UnspecifiedMatching +OMIM:605124 SPINT2 skos:exactMatch hgnc.symbol:SPINT2 semapv:UnspecifiedMatching +OMIM:605124 SPINT2 skos:exactMatch ncbigene:10653 semapv:UnspecifiedMatching +OMIM:605125 GABARAP skos:exactMatch hgnc.symbol:4067 semapv:UnspecifiedMatching +OMIM:605125 GABARAP skos:exactMatch hgnc.symbol:GABARAP semapv:UnspecifiedMatching +OMIM:605125 GABARAP skos:exactMatch ncbigene:11337 semapv:UnspecifiedMatching +OMIM:605126 FHL5 skos:exactMatch hgnc.symbol:17371 semapv:UnspecifiedMatching +OMIM:605126 FHL5 skos:exactMatch hgnc.symbol:FHL5 semapv:UnspecifiedMatching +OMIM:605126 FHL5 skos:exactMatch ncbigene:9457 semapv:UnspecifiedMatching +OMIM:605127 OPTC skos:exactMatch hgnc.symbol:8158 semapv:UnspecifiedMatching +OMIM:605127 OPTC skos:exactMatch hgnc.symbol:OPTC semapv:UnspecifiedMatching +OMIM:605127 OPTC skos:exactMatch ncbigene:26254 semapv:UnspecifiedMatching +OMIM:605128 GUCA1C skos:exactMatch hgnc.symbol:4680 semapv:UnspecifiedMatching +OMIM:605128 GUCA1C skos:exactMatch hgnc.symbol:GUCA1C semapv:UnspecifiedMatching +OMIM:605128 GUCA1C skos:exactMatch ncbigene:9626 semapv:UnspecifiedMatching +OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:9570 semapv:UnspecifiedMatching +OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:PSME3 semapv:UnspecifiedMatching +OMIM:605129 PSME3 skos:exactMatch ncbigene:10197 semapv:UnspecifiedMatching +OMIM:605130 wiedemann-steiner syndrome skos:exactMatch MONDO:0011518 semapv:UnspecifiedMatching +OMIM:605130 wiedemann-steiner syndrome skos:exactMatch Orphanet:319182 semapv:UnspecifiedMatching +OMIM:605130 wiedemann-steiner syndrome skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch UMLS:C1414724 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch UMLS:C1421525 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch UMLS:C4016881 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch hgnc.symbol:12799 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch hgnc.symbol:WWOX semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch ncbigene:51741 semapv:UnspecifiedMatching +OMIM:605132 TLE4 skos:exactMatch UMLS:C1420755 semapv:UnspecifiedMatching +OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:11840 semapv:UnspecifiedMatching +OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:TLE4 semapv:UnspecifiedMatching +OMIM:605132 TLE4 skos:exactMatch ncbigene:7091 semapv:UnspecifiedMatching +OMIM:605133 NCBP2 skos:exactMatch hgnc.symbol:7659 semapv:UnspecifiedMatching +OMIM:605133 NCBP2 skos:exactMatch hgnc.symbol:NCBP2 semapv:UnspecifiedMatching +OMIM:605133 NCBP2 skos:exactMatch ncbigene:22916 semapv:UnspecifiedMatching +OMIM:605134 PITPNC1 skos:exactMatch hgnc.symbol:21045 semapv:UnspecifiedMatching +OMIM:605134 PITPNC1 skos:exactMatch hgnc.symbol:PITPNC1 semapv:UnspecifiedMatching +OMIM:605134 PITPNC1 skos:exactMatch ncbigene:26207 semapv:UnspecifiedMatching +OMIM:605138 OAZ3 skos:exactMatch hgnc.symbol:8097 semapv:UnspecifiedMatching +OMIM:605138 OAZ3 skos:exactMatch hgnc.symbol:OAZ3 semapv:UnspecifiedMatching +OMIM:605138 OAZ3 skos:exactMatch ncbigene:51686 semapv:UnspecifiedMatching +OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:1615 semapv:UnspecifiedMatching +OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:CCT2 semapv:UnspecifiedMatching +OMIM:605139 CCT2 skos:exactMatch ncbigene:10576 semapv:UnspecifiedMatching +OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:1622 semapv:UnspecifiedMatching +OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:CCT7 semapv:UnspecifiedMatching +OMIM:605140 CCT7 skos:exactMatch ncbigene:10574 semapv:UnspecifiedMatching +OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:12709 semapv:UnspecifiedMatching +OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:VPREB1 semapv:UnspecifiedMatching +OMIM:605141 VPREB1 skos:exactMatch ncbigene:7441 semapv:UnspecifiedMatching +OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:1617 semapv:UnspecifiedMatching +OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:CCT4 semapv:UnspecifiedMatching +OMIM:605142 CCT4 skos:exactMatch ncbigene:10575 semapv:UnspecifiedMatching +OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:167 semapv:UnspecifiedMatching +OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:ACTR1A semapv:UnspecifiedMatching +OMIM:605143 ACTR1A skos:exactMatch ncbigene:10121 semapv:UnspecifiedMatching +OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:168 semapv:UnspecifiedMatching +OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:ACTR1B semapv:UnspecifiedMatching +OMIM:605144 ACTR1B skos:exactMatch ncbigene:10120 semapv:UnspecifiedMatching +OMIM:605145 ANKH skos:exactMatch hgnc.symbol:15492 semapv:UnspecifiedMatching +OMIM:605145 ANKH skos:exactMatch hgnc.symbol:ANKH semapv:UnspecifiedMatching +OMIM:605145 ANKH skos:exactMatch ncbigene:56172 semapv:UnspecifiedMatching +OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:14299 semapv:UnspecifiedMatching +OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:S1PR5 semapv:UnspecifiedMatching +OMIM:605146 S1PR5 skos:exactMatch ncbigene:53637 semapv:UnspecifiedMatching +OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:17005 semapv:UnspecifiedMatching +OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:CNMD semapv:UnspecifiedMatching +OMIM:605147 LECT1 skos:exactMatch ncbigene:11061 semapv:UnspecifiedMatching +OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:4128 semapv:UnspecifiedMatching +OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:GALNT6 semapv:UnspecifiedMatching +OMIM:605148 GALNT6 skos:exactMatch ncbigene:11226 semapv:UnspecifiedMatching +OMIM:605149 CXCL13 skos:exactMatch UMLS:C1366572 semapv:UnspecifiedMatching +OMIM:605149 CXCL13 skos:exactMatch hgnc.symbol:10639 semapv:UnspecifiedMatching +OMIM:605149 CXCL13 skos:exactMatch hgnc.symbol:CXCL13 semapv:UnspecifiedMatching +OMIM:605149 CXCL13 skos:exactMatch ncbigene:10563 semapv:UnspecifiedMatching +OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:17229 semapv:UnspecifiedMatching +OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:CFAP45 semapv:UnspecifiedMatching +OMIM:605152 CFAP45 skos:exactMatch ncbigene:25790 semapv:UnspecifiedMatching +OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:9843 semapv:UnspecifiedMatching +OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:RAMP1 semapv:UnspecifiedMatching +OMIM:605153 RAMP1 skos:exactMatch ncbigene:10267 semapv:UnspecifiedMatching +OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:9844 semapv:UnspecifiedMatching +OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:RAMP2 semapv:UnspecifiedMatching +OMIM:605154 RAMP2 skos:exactMatch ncbigene:10266 semapv:UnspecifiedMatching +OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:9845 semapv:UnspecifiedMatching +OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:RAMP3 semapv:UnspecifiedMatching +OMIM:605155 RAMP3 skos:exactMatch ncbigene:10268 semapv:UnspecifiedMatching +OMIM:605157 p53-responsive gene 1 skos:exactMatch ncbigene:23574 semapv:UnspecifiedMatching +OMIM:605158 PXDN skos:exactMatch hgnc.symbol:14966 semapv:UnspecifiedMatching +OMIM:605158 PXDN skos:exactMatch hgnc.symbol:PXDN semapv:UnspecifiedMatching +OMIM:605158 PXDN skos:exactMatch ncbigene:7837 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch UMLS:C1826619 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:21411 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:AIFM2 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch ncbigene:84883 semapv:UnspecifiedMatching +OMIM:605160 p53-responsive gene 4 skos:exactMatch ncbigene:284124 semapv:UnspecifiedMatching +OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:20477 semapv:UnspecifiedMatching +OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:WFDC5 semapv:UnspecifiedMatching +OMIM:605161 WFDC5 skos:exactMatch ncbigene:149708 semapv:UnspecifiedMatching +OMIM:605162 GADD45GIP1 skos:exactMatch hgnc.symbol:29996 semapv:UnspecifiedMatching +OMIM:605162 GADD45GIP1 skos:exactMatch hgnc.symbol:GADD45GIP1 semapv:UnspecifiedMatching +OMIM:605162 GADD45GIP1 skos:exactMatch ncbigene:90480 semapv:UnspecifiedMatching +OMIM:605163 CXCR6 skos:exactMatch hgnc.symbol:16647 semapv:UnspecifiedMatching +OMIM:605163 CXCR6 skos:exactMatch hgnc.symbol:CXCR6 semapv:UnspecifiedMatching +OMIM:605163 CXCR6 skos:exactMatch ncbigene:10663 semapv:UnspecifiedMatching +OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:4853 semapv:UnspecifiedMatching +OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:HDAC2 semapv:UnspecifiedMatching +OMIM:605164 HDAC2 skos:exactMatch ncbigene:3066 semapv:UnspecifiedMatching +OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:13071 semapv:UnspecifiedMatching +OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:PATZ1 semapv:UnspecifiedMatching +OMIM:605165 ZNF278 skos:exactMatch ncbigene:23598 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch UMLS:C1366355 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:4854 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:HDAC3 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch ncbigene:8841 semapv:UnspecifiedMatching +OMIM:605167 BAGE skos:exactMatch hgnc.symbol:942 semapv:UnspecifiedMatching +OMIM:605167 BAGE skos:exactMatch hgnc.symbol:BAGE semapv:UnspecifiedMatching +OMIM:605167 BAGE skos:exactMatch ncbigene:574 semapv:UnspecifiedMatching +OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:3560 semapv:UnspecifiedMatching +OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:FABP5 semapv:UnspecifiedMatching +OMIM:605168 FABP5 skos:exactMatch ncbigene:2171 semapv:UnspecifiedMatching +OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:3320 semapv:UnspecifiedMatching +OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:ELF5 semapv:UnspecifiedMatching +OMIM:605169 ELF5 skos:exactMatch ncbigene:2001 semapv:UnspecifiedMatching +OMIM:605170 EI24 skos:exactMatch hgnc.symbol:13276 semapv:UnspecifiedMatching +OMIM:605170 EI24 skos:exactMatch hgnc.symbol:EI24 semapv:UnspecifiedMatching +OMIM:605170 EI24 skos:exactMatch ncbigene:9538 semapv:UnspecifiedMatching +OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:19373 semapv:UnspecifiedMatching +OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:TP53I3 semapv:UnspecifiedMatching +OMIM:605171 TP53I3 skos:exactMatch ncbigene:9540 semapv:UnspecifiedMatching +OMIM:605172 PTGES skos:exactMatch hgnc.symbol:9599 semapv:UnspecifiedMatching +OMIM:605172 PTGES skos:exactMatch hgnc.symbol:PTGES semapv:UnspecifiedMatching +OMIM:605172 PTGES skos:exactMatch ncbigene:9536 semapv:UnspecifiedMatching +OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:3345 semapv:UnspecifiedMatching +OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:ENC1 semapv:UnspecifiedMatching +OMIM:605173 ENC1 skos:exactMatch ncbigene:8507 semapv:UnspecifiedMatching +OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:217 semapv:UnspecifiedMatching +OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:ADAMTS1 semapv:UnspecifiedMatching +OMIM:605174 ADAMTS1 skos:exactMatch ncbigene:9510 semapv:UnspecifiedMatching +OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:224 semapv:UnspecifiedMatching +OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:ADAMTS8 semapv:UnspecifiedMatching +OMIM:605175 ADAMTS8 skos:exactMatch ncbigene:11095 semapv:UnspecifiedMatching +OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:4810 semapv:UnspecifiedMatching +OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:HAO2 semapv:UnspecifiedMatching +OMIM:605176 HAO2 skos:exactMatch ncbigene:51179 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch UMLS:C1333661 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch UMLS:C4225230 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch hgnc.symbol:4166 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch hgnc.symbol:GAS8 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch ncbigene:2622 semapv:UnspecifiedMatching +OMIM:605179 GAS8AS1 skos:exactMatch hgnc.symbol:1197 semapv:UnspecifiedMatching +OMIM:605179 GAS8AS1 skos:exactMatch hgnc.symbol:GAS8-AS1 semapv:UnspecifiedMatching +OMIM:605179 GAS8AS1 skos:exactMatch ncbigene:750 semapv:UnspecifiedMatching +OMIM:605180 SLC38A2 skos:exactMatch hgnc.symbol:13448 semapv:UnspecifiedMatching +OMIM:605180 SLC38A2 skos:exactMatch hgnc.symbol:SLC38A2 semapv:UnspecifiedMatching +OMIM:605180 SLC38A2 skos:exactMatch ncbigene:54407 semapv:UnspecifiedMatching +OMIM:605181 TM7SF3 skos:exactMatch hgnc.symbol:23049 semapv:UnspecifiedMatching +OMIM:605181 TM7SF3 skos:exactMatch hgnc.symbol:TM7SF3 semapv:UnspecifiedMatching +OMIM:605181 TM7SF3 skos:exactMatch ncbigene:51768 semapv:UnspecifiedMatching +OMIM:605182 RASA3 skos:exactMatch hgnc.symbol:20331 semapv:UnspecifiedMatching +OMIM:605182 RASA3 skos:exactMatch hgnc.symbol:RASA3 semapv:UnspecifiedMatching +OMIM:605182 RASA3 skos:exactMatch ncbigene:22821 semapv:UnspecifiedMatching +OMIM:605183 CALML5 skos:exactMatch hgnc.symbol:18180 semapv:UnspecifiedMatching +OMIM:605183 CALML5 skos:exactMatch hgnc.symbol:CALML5 semapv:UnspecifiedMatching +OMIM:605183 CALML5 skos:exactMatch ncbigene:51806 semapv:UnspecifiedMatching +OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:16945 semapv:UnspecifiedMatching +OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:PAIP1 semapv:UnspecifiedMatching +OMIM:605184 PAIP1 skos:exactMatch ncbigene:10605 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch UMLS:C1414072 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch UMLS:C4225271 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:2910 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:DLL4 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch ncbigene:54567 semapv:UnspecifiedMatching +OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:18081 semapv:UnspecifiedMatching +OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:WIF1 semapv:UnspecifiedMatching +OMIM:605186 WIF1 skos:exactMatch ncbigene:11197 semapv:UnspecifiedMatching +OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:4482 semapv:UnspecifiedMatching +OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:GPR27 semapv:UnspecifiedMatching +OMIM:605187 GPR27 skos:exactMatch ncbigene:2850 semapv:UnspecifiedMatching +OMIM:605188 GPR85 skos:exactMatch hgnc.symbol:4536 semapv:UnspecifiedMatching +OMIM:605188 GPR85 skos:exactMatch hgnc.symbol:GPR85 semapv:UnspecifiedMatching +OMIM:605188 GPR85 skos:exactMatch ncbigene:54329 semapv:UnspecifiedMatching +OMIM:605189 DKK1 skos:exactMatch UMLS:C1414057 semapv:UnspecifiedMatching +OMIM:605189 DKK1 skos:exactMatch hgnc.symbol:2891 semapv:UnspecifiedMatching +OMIM:605189 DKK1 skos:exactMatch hgnc.symbol:DKK1 semapv:UnspecifiedMatching +OMIM:605189 DKK1 skos:exactMatch ncbigene:22943 semapv:UnspecifiedMatching +OMIM:605190 TRAM1 skos:exactMatch hgnc.symbol:20568 semapv:UnspecifiedMatching +OMIM:605190 TRAM1 skos:exactMatch hgnc.symbol:TRAM1 semapv:UnspecifiedMatching +OMIM:605190 TRAM1 skos:exactMatch ncbigene:23471 semapv:UnspecifiedMatching +OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:17307 semapv:UnspecifiedMatching +OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:BTAF1 semapv:UnspecifiedMatching +OMIM:605191 BTAF1 skos:exactMatch ncbigene:9044 semapv:UnspecifiedMatching +OMIM:605192 deafness, autosomal dominant 23 skos:exactMatch MONDO:0011519 semapv:UnspecifiedMatching +OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:687 semapv:UnspecifiedMatching +OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:DIRAS3 semapv:UnspecifiedMatching +OMIM:605193 DIRAS3 skos:exactMatch ncbigene:9077 semapv:UnspecifiedMatching +OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:18292 semapv:UnspecifiedMatching +OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:CFC1 semapv:UnspecifiedMatching +OMIM:605194 CFC1 skos:exactMatch ncbigene:55997 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch UMLS:C1825969 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch UMLS:C1837549 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:29659 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:MESP2 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch ncbigene:145873 semapv:UnspecifiedMatching +OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:18175 semapv:UnspecifiedMatching +OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:COQ3 semapv:UnspecifiedMatching +OMIM:605196 COQ3 skos:exactMatch ncbigene:51805 semapv:UnspecifiedMatching +OMIM:605197 KYNU skos:exactMatch hgnc.symbol:6469 semapv:UnspecifiedMatching +OMIM:605197 KYNU skos:exactMatch hgnc.symbol:KYNU semapv:UnspecifiedMatching +OMIM:605197 KYNU skos:exactMatch ncbigene:8942 semapv:UnspecifiedMatching +OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:16705 semapv:UnspecifiedMatching +OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:TENT4A semapv:UnspecifiedMatching +OMIM:605198 TENT4A skos:exactMatch ncbigene:11044 semapv:UnspecifiedMatching +OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:10774 semapv:UnspecifiedMatching +OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:SFPQ semapv:UnspecifiedMatching +OMIM:605199 SFPQ skos:exactMatch ncbigene:6421 semapv:UnspecifiedMatching +OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:4876 semapv:UnspecifiedMatching +OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:HERC3 semapv:UnspecifiedMatching +OMIM:605200 HERC3 skos:exactMatch ncbigene:8916 semapv:UnspecifiedMatching +OMIM:605202 NANS skos:exactMatch hgnc.symbol:19237 semapv:UnspecifiedMatching +OMIM:605202 NANS skos:exactMatch hgnc.symbol:NANS semapv:UnspecifiedMatching +OMIM:605202 NANS skos:exactMatch ncbigene:54187 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C1540039 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C1851945 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C4016919 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C4016920 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:3098 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:TOR1A semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch ncbigene:1861 semapv:UnspecifiedMatching +OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:21285 semapv:UnspecifiedMatching +OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:ADCY10 semapv:UnspecifiedMatching +OMIM:605205 ADCY10 skos:exactMatch ncbigene:55811 semapv:UnspecifiedMatching +OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:16882 semapv:UnspecifiedMatching +OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:HCN4 semapv:UnspecifiedMatching +OMIM:605206 HCN4 skos:exactMatch ncbigene:10021 semapv:UnspecifiedMatching +OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:20581 semapv:UnspecifiedMatching +OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:CYP26B1 semapv:UnspecifiedMatching +OMIM:605207 CYP26B1 skos:exactMatch ncbigene:56603 semapv:UnspecifiedMatching +OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:16704 semapv:UnspecifiedMatching +OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:SLC17A7 semapv:UnspecifiedMatching +OMIM:605208 SLC17A7 skos:exactMatch ncbigene:57030 semapv:UnspecifiedMatching +OMIM:605209 CHFR skos:exactMatch hgnc.symbol:20455 semapv:UnspecifiedMatching +OMIM:605209 CHFR skos:exactMatch hgnc.symbol:CHFR semapv:UnspecifiedMatching +OMIM:605209 CHFR skos:exactMatch ncbigene:55743 semapv:UnspecifiedMatching +OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:2888 semapv:UnspecifiedMatching +OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:DISC1 semapv:UnspecifiedMatching +OMIM:605210 DISC1 skos:exactMatch ncbigene:27185 semapv:UnspecifiedMatching +OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:953 semapv:UnspecifiedMatching +OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:BARHL1 semapv:UnspecifiedMatching +OMIM:605211 BARHL1 skos:exactMatch ncbigene:56751 semapv:UnspecifiedMatching +OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:954 semapv:UnspecifiedMatching +OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:BARHL2 semapv:UnspecifiedMatching +OMIM:605212 BARHL2 skos:exactMatch ncbigene:343472 semapv:UnspecifiedMatching +OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:8816 semapv:UnspecifiedMatching +OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:PDPK1 semapv:UnspecifiedMatching +OMIM:605213 PDPK1 skos:exactMatch ncbigene:5170 semapv:UnspecifiedMatching +OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:6286 semapv:UnspecifiedMatching +OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:KCNMB2 semapv:UnspecifiedMatching +OMIM:605214 KCNMB2 skos:exactMatch ncbigene:10242 semapv:UnspecifiedMatching +OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:15687 semapv:UnspecifiedMatching +OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:SKAP2 semapv:UnspecifiedMatching +OMIM:605215 SKAP2 skos:exactMatch ncbigene:8935 semapv:UnspecifiedMatching +OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:684 semapv:UnspecifiedMatching +OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:ARHGEF4 semapv:UnspecifiedMatching +OMIM:605216 ARHGEF4 skos:exactMatch ncbigene:50649 semapv:UnspecifiedMatching +OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:29869 semapv:UnspecifiedMatching +OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:SHC2 semapv:UnspecifiedMatching +OMIM:605217 SHC2 skos:exactMatch ncbigene:25759 semapv:UnspecifiedMatching +OMIM:605218 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch MONDO:0011520 semapv:UnspecifiedMatching +OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:21528 semapv:UnspecifiedMatching +OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:DIABLO semapv:UnspecifiedMatching +OMIM:605219 DIABLO skos:exactMatch ncbigene:56616 semapv:UnspecifiedMatching +OMIM:605220 APOBR skos:exactMatch hgnc.symbol:24087 semapv:UnspecifiedMatching +OMIM:605220 APOBR skos:exactMatch hgnc.symbol:APOBR semapv:UnspecifiedMatching +OMIM:605220 APOBR skos:exactMatch ncbigene:55911 semapv:UnspecifiedMatching +OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:16713 semapv:UnspecifiedMatching +OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:SRSF10 semapv:UnspecifiedMatching +OMIM:605221 SRSF10 skos:exactMatch ncbigene:10772 semapv:UnspecifiedMatching +OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:6287 semapv:UnspecifiedMatching +OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:KCNMB3 semapv:UnspecifiedMatching +OMIM:605222 KCNMB3 skos:exactMatch ncbigene:27094 semapv:UnspecifiedMatching +OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:6289 semapv:UnspecifiedMatching +OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:KCNMB4 semapv:UnspecifiedMatching +OMIM:605223 KCNMB4 skos:exactMatch ncbigene:27345 semapv:UnspecifiedMatching +OMIM:605224 RRH skos:exactMatch hgnc.symbol:10450 semapv:UnspecifiedMatching +OMIM:605224 RRH skos:exactMatch hgnc.symbol:RRH semapv:UnspecifiedMatching +OMIM:605224 RRH skos:exactMatch ncbigene:10692 semapv:UnspecifiedMatching +OMIM:605225 inflammatory bowel disease 7 skos:exactMatch MONDO:0011521 semapv:UnspecifiedMatching +OMIM:605226 RERE skos:exactMatch hgnc.symbol:9965 semapv:UnspecifiedMatching +OMIM:605226 RERE skos:exactMatch hgnc.symbol:RERE semapv:UnspecifiedMatching +OMIM:605226 RERE skos:exactMatch ncbigene:473 semapv:UnspecifiedMatching +OMIM:605227 RECK skos:exactMatch hgnc.symbol:11345 semapv:UnspecifiedMatching +OMIM:605227 RECK skos:exactMatch hgnc.symbol:RECK semapv:UnspecifiedMatching +OMIM:605227 RECK skos:exactMatch ncbigene:8434 semapv:UnspecifiedMatching +OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:24217 semapv:UnspecifiedMatching +OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:CIR1 semapv:UnspecifiedMatching +OMIM:605228 CIR1 skos:exactMatch ncbigene:9541 semapv:UnspecifiedMatching +OMIM:605229 spastic paraplegia 14, autosomal recessive skos:exactMatch MONDO:0011522 semapv:UnspecifiedMatching +OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:11999 semapv:UnspecifiedMatching +OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:TP53BP1 semapv:UnspecifiedMatching +OMIM:605230 TP53BP1 skos:exactMatch ncbigene:7158 semapv:UnspecifiedMatching +OMIM:605231 bardet-biedl syndrome 6 skos:exactMatch MONDO:0011523 semapv:UnspecifiedMatching +OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:14540 semapv:UnspecifiedMatching +OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:WNK1 semapv:UnspecifiedMatching +OMIM:605232 WNK1 skos:exactMatch ncbigene:65125 semapv:UnspecifiedMatching +OMIM:605233 dianzani autoimmune lymphoproliferative disease skos:exactMatch MONDO:0011524 semapv:UnspecifiedMatching +OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:13548 semapv:UnspecifiedMatching +OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:VN1R1 semapv:UnspecifiedMatching +OMIM:605234 VN1R1 skos:exactMatch ncbigene:57191 semapv:UnspecifiedMatching +OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:7869 semapv:UnspecifiedMatching +OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:NOL3 semapv:UnspecifiedMatching +OMIM:605235 NOL3 skos:exactMatch ncbigene:8996 semapv:UnspecifiedMatching +OMIM:605236 CORIN skos:exactMatch hgnc.symbol:19012 semapv:UnspecifiedMatching +OMIM:605236 CORIN skos:exactMatch hgnc.symbol:CORIN semapv:UnspecifiedMatching +OMIM:605236 CORIN skos:exactMatch ncbigene:10699 semapv:UnspecifiedMatching +OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:12827 semapv:UnspecifiedMatching +OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:XPR1 semapv:UnspecifiedMatching +OMIM:605237 XPR1 skos:exactMatch ncbigene:9213 semapv:UnspecifiedMatching +OMIM:605238 HNMT skos:exactMatch hgnc.symbol:5028 semapv:UnspecifiedMatching +OMIM:605238 HNMT skos:exactMatch hgnc.symbol:HNMT semapv:UnspecifiedMatching +OMIM:605238 HNMT skos:exactMatch ncbigene:3176 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C1412686 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436959 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436960 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:866 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:ATP6V0A4 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch ncbigene:50617 semapv:UnspecifiedMatching +OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:17700 semapv:UnspecifiedMatching +OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:CCL28 semapv:UnspecifiedMatching +OMIM:605240 CCL28 skos:exactMatch ncbigene:56477 semapv:UnspecifiedMatching +OMIM:605241 LY86 skos:exactMatch hgnc.symbol:16837 semapv:UnspecifiedMatching +OMIM:605241 LY86 skos:exactMatch hgnc.symbol:LY86 semapv:UnspecifiedMatching +OMIM:605241 LY86 skos:exactMatch ncbigene:9450 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C1421379 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch hgnc.symbol:12597 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch hgnc.symbol:USH1C semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch ncbigene:10083 semapv:UnspecifiedMatching +OMIM:605243 LY96 skos:exactMatch hgnc.symbol:17156 semapv:UnspecifiedMatching +OMIM:605243 LY96 skos:exactMatch hgnc.symbol:LY96 semapv:UnspecifiedMatching +OMIM:605243 LY96 skos:exactMatch ncbigene:23643 semapv:UnspecifiedMatching +OMIM:605244 carney complex, iia 2 skos:exactMatch MONDO:0011525 semapv:UnspecifiedMatching +OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:13812 semapv:UnspecifiedMatching +OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:SLC2A8 semapv:UnspecifiedMatching +OMIM:605245 SLC2A8 skos:exactMatch ncbigene:29988 semapv:UnspecifiedMatching +OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:1319 semapv:UnspecifiedMatching +OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:C3AR1 semapv:UnspecifiedMatching +OMIM:605246 C3AR1 skos:exactMatch ncbigene:719 semapv:UnspecifiedMatching +OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:16491 semapv:UnspecifiedMatching +OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:PIDD1 semapv:UnspecifiedMatching +OMIM:605247 PIDD1 skos:exactMatch ncbigene:55367 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch UMLS:C0238286 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch UMLS:C1421947 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:13356 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:MCOLN1 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch ncbigene:57192 semapv:UnspecifiedMatching +OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:55 semapv:UnspecifiedMatching +OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:ABCC4 semapv:UnspecifiedMatching +OMIM:605250 ABCC4 skos:exactMatch ncbigene:10257 semapv:UnspecifiedMatching +OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:56 semapv:UnspecifiedMatching +OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:ABCC5 semapv:UnspecifiedMatching +OMIM:605251 ABCC5 skos:exactMatch ncbigene:10057 semapv:UnspecifiedMatching +OMIM:605252 POLI skos:exactMatch hgnc.symbol:9182 semapv:UnspecifiedMatching +OMIM:605252 POLI skos:exactMatch hgnc.symbol:POLI semapv:UnspecifiedMatching +OMIM:605252 POLI skos:exactMatch ncbigene:11201 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch MONDO:0011527 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721436 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721437 semapv:UnspecifiedMatching +OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:17091 semapv:UnspecifiedMatching +OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:NCSTN semapv:UnspecifiedMatching +OMIM:605254 NCSTN skos:exactMatch ncbigene:23385 semapv:UnspecifiedMatching +OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:18160 semapv:UnspecifiedMatching +OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:ETV7 semapv:UnspecifiedMatching +OMIM:605255 ETV7 skos:exactMatch ncbigene:51513 semapv:UnspecifiedMatching +OMIM:605256 RAD18 skos:exactMatch hgnc.symbol:18278 semapv:UnspecifiedMatching +OMIM:605256 RAD18 skos:exactMatch hgnc.symbol:RAD18 semapv:UnspecifiedMatching +OMIM:605256 RAD18 skos:exactMatch ncbigene:56852 semapv:UnspecifiedMatching +OMIM:605257 AICDA skos:exactMatch hgnc.symbol:13203 semapv:UnspecifiedMatching +OMIM:605257 AICDA skos:exactMatch hgnc.symbol:AICDA semapv:UnspecifiedMatching +OMIM:605257 AICDA skos:exactMatch ncbigene:57379 semapv:UnspecifiedMatching +OMIM:605258 immunodeficiency with hyper-igm, iia 2 skos:exactMatch MONDO:0011528 semapv:UnspecifiedMatching +OMIM:605259 spinocerebellar ataxia 13 skos:exactMatch MONDO:0011529 semapv:UnspecifiedMatching +OMIM:605261 NOX4 skos:exactMatch hgnc.symbol:7891 semapv:UnspecifiedMatching +OMIM:605261 NOX4 skos:exactMatch hgnc.symbol:NOX4 semapv:UnspecifiedMatching +OMIM:605261 NOX4 skos:exactMatch ncbigene:50507 semapv:UnspecifiedMatching +OMIM:605262 NDRG1 skos:exactMatch hgnc.symbol:7679 semapv:UnspecifiedMatching +OMIM:605262 NDRG1 skos:exactMatch hgnc.symbol:NDRG1 semapv:UnspecifiedMatching +OMIM:605262 NDRG1 skos:exactMatch ncbigene:10397 semapv:UnspecifiedMatching +OMIM:605263 SHC3 skos:exactMatch hgnc.symbol:18181 semapv:UnspecifiedMatching +OMIM:605263 SHC3 skos:exactMatch hgnc.symbol:SHC3 semapv:UnspecifiedMatching +OMIM:605263 SHC3 skos:exactMatch ncbigene:53358 semapv:UnspecifiedMatching +OMIM:605264 SORBS1 skos:exactMatch UMLS:C1422760 semapv:UnspecifiedMatching +OMIM:605264 SORBS1 skos:exactMatch hgnc.symbol:14565 semapv:UnspecifiedMatching +OMIM:605264 SORBS1 skos:exactMatch hgnc.symbol:SORBS1 semapv:UnspecifiedMatching +OMIM:605264 SORBS1 skos:exactMatch ncbigene:10580 semapv:UnspecifiedMatching +OMIM:605265 AVEN skos:exactMatch hgnc.symbol:13509 semapv:UnspecifiedMatching +OMIM:605265 AVEN skos:exactMatch hgnc.symbol:AVEN semapv:UnspecifiedMatching +OMIM:605265 AVEN skos:exactMatch ncbigene:57099 semapv:UnspecifiedMatching +OMIM:605266 JPH1 skos:exactMatch hgnc.symbol:14201 semapv:UnspecifiedMatching +OMIM:605266 JPH1 skos:exactMatch hgnc.symbol:JPH1 semapv:UnspecifiedMatching +OMIM:605266 JPH1 skos:exactMatch ncbigene:56704 semapv:UnspecifiedMatching +OMIM:605267 JPH2 skos:exactMatch hgnc.symbol:14202 semapv:UnspecifiedMatching +OMIM:605267 JPH2 skos:exactMatch hgnc.symbol:JPH2 semapv:UnspecifiedMatching +OMIM:605267 JPH2 skos:exactMatch ncbigene:57158 semapv:UnspecifiedMatching +OMIM:605268 JPH3 skos:exactMatch hgnc.symbol:14203 semapv:UnspecifiedMatching +OMIM:605268 JPH3 skos:exactMatch hgnc.symbol:JPH3 semapv:UnspecifiedMatching +OMIM:605268 JPH3 skos:exactMatch ncbigene:57338 semapv:UnspecifiedMatching +OMIM:605269 CORO1C skos:exactMatch hgnc.symbol:2254 semapv:UnspecifiedMatching +OMIM:605269 CORO1C skos:exactMatch hgnc.symbol:CORO1C semapv:UnspecifiedMatching +OMIM:605269 CORO1C skos:exactMatch ncbigene:23603 semapv:UnspecifiedMatching +OMIM:605270 SGSH skos:exactMatch hgnc.symbol:10818 semapv:UnspecifiedMatching +OMIM:605270 SGSH skos:exactMatch hgnc.symbol:SGSH semapv:UnspecifiedMatching +OMIM:605270 SGSH skos:exactMatch ncbigene:6448 semapv:UnspecifiedMatching +OMIM:605271 SERPINA10 skos:exactMatch hgnc.symbol:15996 semapv:UnspecifiedMatching +OMIM:605271 SERPINA10 skos:exactMatch hgnc.symbol:SERPINA10 semapv:UnspecifiedMatching +OMIM:605271 SERPINA10 skos:exactMatch ncbigene:51156 semapv:UnspecifiedMatching +OMIM:605272 NDRG2 skos:exactMatch hgnc.symbol:14460 semapv:UnspecifiedMatching +OMIM:605272 NDRG2 skos:exactMatch hgnc.symbol:NDRG2 semapv:UnspecifiedMatching +OMIM:605272 NDRG2 skos:exactMatch ncbigene:57447 semapv:UnspecifiedMatching +OMIM:605273 NDRG3 skos:exactMatch hgnc.symbol:14462 semapv:UnspecifiedMatching +OMIM:605273 NDRG3 skos:exactMatch hgnc.symbol:NDRG3 semapv:UnspecifiedMatching +OMIM:605273 NDRG3 skos:exactMatch ncbigene:57446 semapv:UnspecifiedMatching +OMIM:605274 mesomelic dysplasia, savarirayan iia skos:exactMatch MONDO:0011530 semapv:UnspecifiedMatching +OMIM:605275 noonan syndrome 2 skos:exactMatch MONDO:0011531 semapv:UnspecifiedMatching +OMIM:605276 AATK skos:exactMatch hgnc.symbol:21 semapv:UnspecifiedMatching +OMIM:605276 AATK skos:exactMatch hgnc.symbol:AATK semapv:UnspecifiedMatching +OMIM:605276 AATK skos:exactMatch ncbigene:9625 semapv:UnspecifiedMatching +OMIM:605277 GRLF1 skos:exactMatch hgnc.symbol:4591 semapv:UnspecifiedMatching +OMIM:605277 GRLF1 skos:exactMatch hgnc.symbol:ARHGAP35 semapv:UnspecifiedMatching +OMIM:605277 GRLF1 skos:exactMatch ncbigene:2909 semapv:UnspecifiedMatching +OMIM:605278 CES2 skos:exactMatch hgnc.symbol:1864 semapv:UnspecifiedMatching +OMIM:605278 CES2 skos:exactMatch hgnc.symbol:CES2 semapv:UnspecifiedMatching +OMIM:605278 CES2 skos:exactMatch ncbigene:8824 semapv:UnspecifiedMatching +OMIM:605279 CES3 skos:exactMatch hgnc.symbol:1865 semapv:UnspecifiedMatching +OMIM:605279 CES3 skos:exactMatch hgnc.symbol:CES3 semapv:UnspecifiedMatching +OMIM:605279 CES3 skos:exactMatch ncbigene:23491 semapv:UnspecifiedMatching +OMIM:605280 spastic paraplegia 13, autosomal dominant skos:exactMatch MONDO:0011532 semapv:UnspecifiedMatching +OMIM:605281 DDX4 skos:exactMatch UMLS:C1425720 semapv:UnspecifiedMatching +OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:18700 semapv:UnspecifiedMatching +OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:DDX4 semapv:UnspecifiedMatching +OMIM:605281 DDX4 skos:exactMatch ncbigene:54514 semapv:UnspecifiedMatching +OMIM:605282 temtamy preaxial brachydactyly syndrome skos:exactMatch MONDO:0011533 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch UMLS:C1416986 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:6814 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:MAGEL2 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch ncbigene:54551 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch UMLS:C0694894 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch UMLS:C0751674 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch UMLS:C1854465 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch hgnc.symbol:12362 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch hgnc.symbol:TSC1 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch ncbigene:7248 semapv:UnspecifiedMatching +OMIM:605285 neuropathy, hereditary motor and sensory, russe iia skos:exactMatch MONDO:0011534 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch UMLS:C1413110 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch UMLS:C1854448 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch UMLS:C5436961 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch hgnc.symbol:1477 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch hgnc.symbol:CAPN10 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch ncbigene:11132 semapv:UnspecifiedMatching +OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:10079 semapv:UnspecifiedMatching +OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:RNPEPL1 semapv:UnspecifiedMatching +OMIM:605287 RNPEPL1 skos:exactMatch ncbigene:57140 semapv:UnspecifiedMatching +OMIM:605289 split-hand/foot malformation 4 skos:exactMatch MONDO:0011535 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C1417953 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C1847730 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch UMLS:C4225538 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:8140 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:OPA1 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch ncbigene:4976 semapv:UnspecifiedMatching +OMIM:605292 NT5M skos:exactMatch hgnc.symbol:15769 semapv:UnspecifiedMatching +OMIM:605292 NT5M skos:exactMatch hgnc.symbol:NT5M semapv:UnspecifiedMatching +OMIM:605292 NT5M skos:exactMatch ncbigene:56953 semapv:UnspecifiedMatching +OMIM:605293 optic atrophy 4 skos:exactMatch MONDO:0011536 semapv:UnspecifiedMatching +OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:6938 semapv:UnspecifiedMatching +OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:CHST6 semapv:UnspecifiedMatching +OMIM:605294 CHST6 skos:exactMatch ncbigene:4166 semapv:UnspecifiedMatching +OMIM:605295 FIGN skos:exactMatch hgnc.symbol:13285 semapv:UnspecifiedMatching +OMIM:605295 FIGN skos:exactMatch hgnc.symbol:FIGN semapv:UnspecifiedMatching +OMIM:605295 FIGN skos:exactMatch ncbigene:55137 semapv:UnspecifiedMatching +OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:3043 semapv:UnspecifiedMatching +OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:PSMG1 semapv:UnspecifiedMatching +OMIM:605296 PSMG1 skos:exactMatch ncbigene:8624 semapv:UnspecifiedMatching +OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:15934 semapv:UnspecifiedMatching +OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:NELFCD semapv:UnspecifiedMatching +OMIM:605297 NELFCD skos:exactMatch ncbigene:51497 semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch UMLS:C1414164 semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:3044 semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:VPS26C semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch ncbigene:10311 semapv:UnspecifiedMatching +OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:15936 semapv:UnspecifiedMatching +OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:NCOA6 semapv:UnspecifiedMatching +OMIM:605299 NCOA6 skos:exactMatch ncbigene:23054 semapv:UnspecifiedMatching +OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:17381 semapv:UnspecifiedMatching +OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:SH2B2 semapv:UnspecifiedMatching +OMIM:605300 SH2B2 skos:exactMatch ncbigene:10603 semapv:UnspecifiedMatching +OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:11522 semapv:UnspecifiedMatching +OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:TACC1 semapv:UnspecifiedMatching +OMIM:605301 TACC1 skos:exactMatch ncbigene:6867 semapv:UnspecifiedMatching +OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:11523 semapv:UnspecifiedMatching +OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:TACC2 semapv:UnspecifiedMatching +OMIM:605302 TACC2 skos:exactMatch ncbigene:10579 semapv:UnspecifiedMatching +OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:11524 semapv:UnspecifiedMatching +OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:TACC3 semapv:UnspecifiedMatching +OMIM:605303 TACC3 skos:exactMatch ncbigene:10460 semapv:UnspecifiedMatching +OMIM:605304 NGB skos:exactMatch hgnc.symbol:14077 semapv:UnspecifiedMatching +OMIM:605304 NGB skos:exactMatch hgnc.symbol:NGB semapv:UnspecifiedMatching +OMIM:605304 NGB skos:exactMatch ncbigene:58157 semapv:UnspecifiedMatching +OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:16345 semapv:UnspecifiedMatching +OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:KIR2DL5A semapv:UnspecifiedMatching +OMIM:605305 KIR2DL5A skos:exactMatch ncbigene:57292 semapv:UnspecifiedMatching +OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:13257 semapv:UnspecifiedMatching +OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:CLEC4A semapv:UnspecifiedMatching +OMIM:605306 CLEC4A skos:exactMatch ncbigene:50856 semapv:UnspecifiedMatching +OMIM:605307 ADMR skos:exactMatch hgnc.symbol:13708 semapv:UnspecifiedMatching +OMIM:605307 ADMR skos:exactMatch hgnc.symbol:GPR182 semapv:UnspecifiedMatching +OMIM:605307 ADMR skos:exactMatch ncbigene:11318 semapv:UnspecifiedMatching +OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:16403 semapv:UnspecifiedMatching +OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:ZNF346 semapv:UnspecifiedMatching +OMIM:605308 ZNF346 skos:exactMatch ncbigene:23567 semapv:UnspecifiedMatching +OMIM:605309 macrocephaly/autism syndrome skos:exactMatch MONDO:0011537 semapv:UnspecifiedMatching +OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:13930 semapv:UnspecifiedMatching +OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:CCHCR1 semapv:UnspecifiedMatching +OMIM:605310 CCHCR1 skos:exactMatch ncbigene:54535 semapv:UnspecifiedMatching +OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:30142 semapv:UnspecifiedMatching +OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:GDF15 semapv:UnspecifiedMatching +OMIM:605312 GDF15 skos:exactMatch ncbigene:9518 semapv:UnspecifiedMatching +OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:9905 semapv:UnspecifiedMatching +OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:RBM8A semapv:UnspecifiedMatching +OMIM:605313 RBM8A skos:exactMatch ncbigene:9939 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch UMLS:C1333893 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:14063 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:HDAC4 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch ncbigene:9759 semapv:UnspecifiedMatching +OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:14068 semapv:UnspecifiedMatching +OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:HDAC5 semapv:UnspecifiedMatching +OMIM:605315 HDAC5 skos:exactMatch ncbigene:10014 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch UMLS:C1422249 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:13875 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:FOXP2 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch ncbigene:93986 semapv:UnspecifiedMatching +OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:8874 semapv:UnspecifiedMatching +OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:PFKFB3 semapv:UnspecifiedMatching +OMIM:605319 PFKFB3 skos:exactMatch ncbigene:5209 semapv:UnspecifiedMatching +OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:8875 semapv:UnspecifiedMatching +OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:PFKFB4 semapv:UnspecifiedMatching +OMIM:605320 PFKFB4 skos:exactMatch ncbigene:5210 semapv:UnspecifiedMatching +OMIM:605321 frontoocular syndrome skos:exactMatch MONDO:0011538 semapv:UnspecifiedMatching +OMIM:605322 WFDC1 skos:exactMatch hgnc.symbol:15466 semapv:UnspecifiedMatching +OMIM:605322 WFDC1 skos:exactMatch hgnc.symbol:WFDC1 semapv:UnspecifiedMatching +OMIM:605322 WFDC1 skos:exactMatch ncbigene:58189 semapv:UnspecifiedMatching +OMIM:605323 CTDSP1 skos:exactMatch hgnc.symbol:21614 semapv:UnspecifiedMatching +OMIM:605323 CTDSP1 skos:exactMatch hgnc.symbol:CTDSP1 semapv:UnspecifiedMatching +OMIM:605323 CTDSP1 skos:exactMatch ncbigene:58190 semapv:UnspecifiedMatching +OMIM:605324 APPBP2 skos:exactMatch hgnc.symbol:622 semapv:UnspecifiedMatching +OMIM:605324 APPBP2 skos:exactMatch hgnc.symbol:APPBP2 semapv:UnspecifiedMatching +OMIM:605324 APPBP2 skos:exactMatch ncbigene:10513 semapv:UnspecifiedMatching +OMIM:605325 CYP3A5 skos:exactMatch hgnc.symbol:2638 semapv:UnspecifiedMatching +OMIM:605325 CYP3A5 skos:exactMatch hgnc.symbol:CYP3A5 semapv:UnspecifiedMatching +OMIM:605325 CYP3A5 skos:exactMatch ncbigene:1577 semapv:UnspecifiedMatching +OMIM:605326 TAX1BP1 skos:exactMatch hgnc.symbol:11575 semapv:UnspecifiedMatching +OMIM:605326 TAX1BP1 skos:exactMatch hgnc.symbol:TAX1BP1 semapv:UnspecifiedMatching +OMIM:605326 TAX1BP1 skos:exactMatch ncbigene:8887 semapv:UnspecifiedMatching +OMIM:605327 NFIL3 skos:exactMatch hgnc.symbol:7787 semapv:UnspecifiedMatching +OMIM:605327 NFIL3 skos:exactMatch hgnc.symbol:NFIL3 semapv:UnspecifiedMatching +OMIM:605327 NFIL3 skos:exactMatch ncbigene:4783 semapv:UnspecifiedMatching +OMIM:605328 KLF13 skos:exactMatch hgnc.symbol:13672 semapv:UnspecifiedMatching +OMIM:605328 KLF13 skos:exactMatch hgnc.symbol:KLF13 semapv:UnspecifiedMatching +OMIM:605328 KLF13 skos:exactMatch ncbigene:51621 semapv:UnspecifiedMatching +OMIM:605330 IL22 skos:exactMatch UMLS:C1423038 semapv:UnspecifiedMatching +OMIM:605330 IL22 skos:exactMatch hgnc.symbol:14900 semapv:UnspecifiedMatching +OMIM:605330 IL22 skos:exactMatch hgnc.symbol:IL22 semapv:UnspecifiedMatching +OMIM:605330 IL22 skos:exactMatch ncbigene:50616 semapv:UnspecifiedMatching +OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:3380 semapv:UnspecifiedMatching +OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:EPB41L3 semapv:UnspecifiedMatching +OMIM:605331 EPB41L3 skos:exactMatch ncbigene:23136 semapv:UnspecifiedMatching +OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:6352 semapv:UnspecifiedMatching +OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:KLHL1 semapv:UnspecifiedMatching +OMIM:605332 KLHL1 skos:exactMatch ncbigene:57626 semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch UMLS:C1332105 semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:20418 semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:PDS5B semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch ncbigene:23047 semapv:UnspecifiedMatching +OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:8933 semapv:UnspecifiedMatching +OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:PHLDA1 semapv:UnspecifiedMatching +OMIM:605335 PHLDA1 skos:exactMatch ncbigene:22822 semapv:UnspecifiedMatching +OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:16980 semapv:UnspecifiedMatching +OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:CFHR3 semapv:UnspecifiedMatching +OMIM:605336 CFHR3 skos:exactMatch ncbigene:10878 semapv:UnspecifiedMatching +OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:16979 semapv:UnspecifiedMatching +OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:CFHR4 semapv:UnspecifiedMatching +OMIM:605337 CFHR4 skos:exactMatch ncbigene:10877 semapv:UnspecifiedMatching +OMIM:605338 INA skos:exactMatch hgnc.symbol:6057 semapv:UnspecifiedMatching +OMIM:605338 INA skos:exactMatch hgnc.symbol:INA semapv:UnspecifiedMatching +OMIM:605338 INA skos:exactMatch ncbigene:9118 semapv:UnspecifiedMatching +OMIM:605339 FXR2 skos:exactMatch hgnc.symbol:4024 semapv:UnspecifiedMatching +OMIM:605339 FXR2 skos:exactMatch hgnc.symbol:FXR2 semapv:UnspecifiedMatching +OMIM:605339 FXR2 skos:exactMatch ncbigene:9513 semapv:UnspecifiedMatching +OMIM:605340 CYP3A7 skos:exactMatch hgnc.symbol:2640 semapv:UnspecifiedMatching +OMIM:605340 CYP3A7 skos:exactMatch hgnc.symbol:CYP3A7 semapv:UnspecifiedMatching +OMIM:605340 CYP3A7 skos:exactMatch ncbigene:1551 semapv:UnspecifiedMatching +OMIM:605341 PILRA skos:exactMatch hgnc.symbol:20396 semapv:UnspecifiedMatching +OMIM:605341 PILRA skos:exactMatch hgnc.symbol:PILRA semapv:UnspecifiedMatching +OMIM:605341 PILRA skos:exactMatch ncbigene:29992 semapv:UnspecifiedMatching +OMIM:605342 PILRB skos:exactMatch hgnc.symbol:18297 semapv:UnspecifiedMatching +OMIM:605342 PILRB skos:exactMatch hgnc.symbol:PILRB semapv:UnspecifiedMatching +OMIM:605342 PILRB skos:exactMatch ncbigene:29990 semapv:UnspecifiedMatching +OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:3973 semapv:UnspecifiedMatching +OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:FSTL3 semapv:UnspecifiedMatching +OMIM:605343 FSTL3 skos:exactMatch ncbigene:10272 semapv:UnspecifiedMatching +OMIM:605344 NFYC skos:exactMatch hgnc.symbol:7806 semapv:UnspecifiedMatching +OMIM:605344 NFYC skos:exactMatch hgnc.symbol:NFYC semapv:UnspecifiedMatching +OMIM:605344 NFYC skos:exactMatch ncbigene:4802 semapv:UnspecifiedMatching +OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:17911 semapv:UnspecifiedMatching +OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:ALKBH1 semapv:UnspecifiedMatching +OMIM:605345 ALKBH1 skos:exactMatch ncbigene:8846 semapv:UnspecifiedMatching +OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:18368 semapv:UnspecifiedMatching +OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:PADI4 semapv:UnspecifiedMatching +OMIM:605347 PADI4 skos:exactMatch ncbigene:23569 semapv:UnspecifiedMatching +OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:30590 semapv:UnspecifiedMatching +OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:TMEM50A semapv:UnspecifiedMatching +OMIM:605348 TMEM50A skos:exactMatch ncbigene:23585 semapv:UnspecifiedMatching +OMIM:605349 NARF skos:exactMatch hgnc.symbol:29916 semapv:UnspecifiedMatching +OMIM:605349 NARF skos:exactMatch hgnc.symbol:NARF semapv:UnspecifiedMatching +OMIM:605349 NARF skos:exactMatch ncbigene:26502 semapv:UnspecifiedMatching +OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:17290 semapv:UnspecifiedMatching +OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:IL27RA semapv:UnspecifiedMatching +OMIM:605350 IL27RA skos:exactMatch ncbigene:9466 semapv:UnspecifiedMatching +OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:3696 semapv:UnspecifiedMatching +OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:FGL2 semapv:UnspecifiedMatching +OMIM:605351 FGL2 skos:exactMatch ncbigene:10875 semapv:UnspecifiedMatching +OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:16982 semapv:UnspecifiedMatching +OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:MFHAS1 semapv:UnspecifiedMatching +OMIM:605352 MFHAS1 skos:exactMatch ncbigene:9258 semapv:UnspecifiedMatching +OMIM:605353 GHRL skos:exactMatch hgnc.symbol:18129 semapv:UnspecifiedMatching +OMIM:605353 GHRL skos:exactMatch hgnc.symbol:GHRL semapv:UnspecifiedMatching +OMIM:605353 GHRL skos:exactMatch ncbigene:51738 semapv:UnspecifiedMatching +OMIM:605354 CARD18 skos:exactMatch hgnc.symbol:28861 semapv:UnspecifiedMatching +OMIM:605354 CARD18 skos:exactMatch hgnc.symbol:CARD18 semapv:UnspecifiedMatching +OMIM:605354 CARD18 skos:exactMatch ncbigene:59082 semapv:UnspecifiedMatching +OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch MONDO:0011539 semapv:UnspecifiedMatching +OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch Orphanet:98902 semapv:UnspecifiedMatching +OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch UMLS:C1421561 semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch hgnc.symbol:12852 semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch hgnc.symbol:YWHAG semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch ncbigene:7532 semapv:UnspecifiedMatching +OMIM:605357 STON1 skos:exactMatch hgnc.symbol:17003 semapv:UnspecifiedMatching +OMIM:605357 STON1 skos:exactMatch hgnc.symbol:STON1 semapv:UnspecifiedMatching +OMIM:605357 STON1 skos:exactMatch ncbigene:11037 semapv:UnspecifiedMatching +OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:30727 semapv:UnspecifiedMatching +OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:GTF2A1L semapv:UnspecifiedMatching +OMIM:605358 GTF2A1L skos:exactMatch ncbigene:11036 semapv:UnspecifiedMatching +OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:18020 semapv:UnspecifiedMatching +OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:PRR4 semapv:UnspecifiedMatching +OMIM:605359 PRR4 skos:exactMatch ncbigene:11272 semapv:UnspecifiedMatching +OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:24926 semapv:UnspecifiedMatching +OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:CCDC85B semapv:UnspecifiedMatching +OMIM:605360 CCDC85B skos:exactMatch ncbigene:11007 semapv:UnspecifiedMatching +OMIM:605361 spinocerebellar ataxia 14 skos:exactMatch MONDO:0011540 semapv:UnspecifiedMatching +OMIM:605362 cardiomyopathy, dilated, 1j skos:exactMatch MONDO:0011541 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch UMLS:C1414925 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch UMLS:C2751938 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:4092 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:GAD1 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch ncbigene:2571 semapv:UnspecifiedMatching +OMIM:605364 psoriasis 6, susceptibility to skos:exactMatch MONDO:0011542 semapv:UnspecifiedMatching +OMIM:605365 skos:exactMatch MONDO:0011543 semapv:UnspecifiedMatching +OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:17187 semapv:UnspecifiedMatching +OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:OLFM1 semapv:UnspecifiedMatching +OMIM:605366 OLFM1 skos:exactMatch ncbigene:10439 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch UMLS:C1422480 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch UMLS:C3539120 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:14198 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:ELAC2 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch ncbigene:60528 semapv:UnspecifiedMatching +OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:1085 semapv:UnspecifiedMatching +OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:BNIP3L semapv:UnspecifiedMatching +OMIM:605368 BNIP3L skos:exactMatch ncbigene:665 semapv:UnspecifiedMatching +OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:24059 semapv:UnspecifiedMatching +OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:TMPRSS11D semapv:UnspecifiedMatching +OMIM:605369 TMPRSS11D skos:exactMatch ncbigene:9407 semapv:UnspecifiedMatching +OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:17073 semapv:UnspecifiedMatching +OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:ARHGAP26 semapv:UnspecifiedMatching +OMIM:605370 ARHGAP26 skos:exactMatch ncbigene:23092 semapv:UnspecifiedMatching +OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:15853 semapv:UnspecifiedMatching +OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:ARFGEF2 semapv:UnspecifiedMatching +OMIM:605371 ARFGEF2 skos:exactMatch ncbigene:10564 semapv:UnspecifiedMatching +OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:24941 semapv:UnspecifiedMatching +OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:HNRNPA3 semapv:UnspecifiedMatching +OMIM:605372 HNRNPA3 skos:exactMatch ncbigene:220988 semapv:UnspecifiedMatching +OMIM:605373 pheochromocytoma/paraganglioma syndrome 3 skos:exactMatch MONDO:0011544 semapv:UnspecifiedMatching +OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:16911 semapv:UnspecifiedMatching +OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:MYCNOS semapv:UnspecifiedMatching +OMIM:605374 MYCNOS skos:exactMatch ncbigene:10408 semapv:UnspecifiedMatching +OMIM:605375 epilepsy, nocturnal frontal lobe, 3 skos:exactMatch MONDO:0011545 semapv:UnspecifiedMatching +OMIM:605376 heterotaxy, visceral, 2, autosomal skos:exactMatch MONDO:0011546 semapv:UnspecifiedMatching +OMIM:605377 DMPK skos:exactMatch hgnc.symbol:2933 semapv:UnspecifiedMatching +OMIM:605377 DMPK skos:exactMatch hgnc.symbol:DMPK semapv:UnspecifiedMatching +OMIM:605377 DMPK skos:exactMatch ncbigene:1760 semapv:UnspecifiedMatching +OMIM:605378 AAAS skos:exactMatch hgnc.symbol:13666 semapv:UnspecifiedMatching +OMIM:605378 AAAS skos:exactMatch hgnc.symbol:AAAS semapv:UnspecifiedMatching +OMIM:605378 AAAS skos:exactMatch ncbigene:8086 semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch UMLS:C1414964 semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch hgnc.symbol:4137 semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch hgnc.symbol:GAN semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch ncbigene:8139 semapv:UnspecifiedMatching +OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:3680 semapv:UnspecifiedMatching +OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:FGF23 semapv:UnspecifiedMatching +OMIM:605380 FGF23 skos:exactMatch ncbigene:8074 semapv:UnspecifiedMatching +OMIM:605381 RHCG skos:exactMatch hgnc.symbol:18140 semapv:UnspecifiedMatching +OMIM:605381 RHCG skos:exactMatch hgnc.symbol:RHCG semapv:UnspecifiedMatching +OMIM:605381 RHCG skos:exactMatch ncbigene:51458 semapv:UnspecifiedMatching +OMIM:605383 IL21R skos:exactMatch hgnc.symbol:6006 semapv:UnspecifiedMatching +OMIM:605383 IL21R skos:exactMatch hgnc.symbol:IL21R semapv:UnspecifiedMatching +OMIM:605383 IL21R skos:exactMatch ncbigene:50615 semapv:UnspecifiedMatching +OMIM:605384 IL21 skos:exactMatch hgnc.symbol:6005 semapv:UnspecifiedMatching +OMIM:605384 IL21 skos:exactMatch hgnc.symbol:IL21 semapv:UnspecifiedMatching +OMIM:605384 IL21 skos:exactMatch ncbigene:59067 semapv:UnspecifiedMatching +OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:13721 semapv:UnspecifiedMatching +OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:RCE1 semapv:UnspecifiedMatching +OMIM:605385 RCE1 skos:exactMatch ncbigene:9986 semapv:UnspecifiedMatching +OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:31476 semapv:UnspecifiedMatching +OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:MIRLET7A1 semapv:UnspecifiedMatching +OMIM:605386 MIRLET7A1 skos:exactMatch ncbigene:406881 semapv:UnspecifiedMatching +OMIM:605387 cataract 31, multiple types skos:exactMatch MONDO:0011547 semapv:UnspecifiedMatching +OMIM:605387 cataract 31, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:605387 cataract 31, multiple types skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching +OMIM:605388 cerebral palsy, ataxic, autosomal recessive skos:exactMatch MONDO:0011548 semapv:UnspecifiedMatching +OMIM:605389 hypotrichosis 1 skos:exactMatch MONDO:0011549 semapv:UnspecifiedMatching +OMIM:605389 hypotrichosis 1 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching +OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C1854310 semapv:UnspecifiedMatching +OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C4551976 semapv:UnspecifiedMatching +OMIM:605390 LPXN skos:exactMatch hgnc.symbol:14061 semapv:UnspecifiedMatching +OMIM:605390 LPXN skos:exactMatch hgnc.symbol:LPXN semapv:UnspecifiedMatching +OMIM:605390 LPXN skos:exactMatch ncbigene:9404 semapv:UnspecifiedMatching +OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:7102 semapv:UnspecifiedMatching +OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:MINPP1 semapv:UnspecifiedMatching +OMIM:605391 MINPP1 skos:exactMatch ncbigene:9562 semapv:UnspecifiedMatching +OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:17012 semapv:UnspecifiedMatching +OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:CEP43 semapv:UnspecifiedMatching +OMIM:605392 FGFR1OP skos:exactMatch ncbigene:11116 semapv:UnspecifiedMatching +OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:18039 semapv:UnspecifiedMatching +OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:KDM5B semapv:UnspecifiedMatching +OMIM:605393 KDM5B skos:exactMatch ncbigene:10765 semapv:UnspecifiedMatching +OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:14078 semapv:UnspecifiedMatching +OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:BACH2 semapv:UnspecifiedMatching +OMIM:605394 BACH2 skos:exactMatch ncbigene:60468 semapv:UnspecifiedMatching +OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:17291 semapv:UnspecifiedMatching +OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:TMED1 semapv:UnspecifiedMatching +OMIM:605395 TMED1 skos:exactMatch ncbigene:11018 semapv:UnspecifiedMatching +OMIM:605397 CD226 skos:exactMatch hgnc.symbol:16961 semapv:UnspecifiedMatching +OMIM:605397 CD226 skos:exactMatch hgnc.symbol:CD226 semapv:UnspecifiedMatching +OMIM:605397 CD226 skos:exactMatch ncbigene:10666 semapv:UnspecifiedMatching +OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:16642 semapv:UnspecifiedMatching +OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:CXCL16 semapv:UnspecifiedMatching +OMIM:605398 CXCL16 skos:exactMatch ncbigene:58191 semapv:UnspecifiedMatching +OMIM:605399 NID2 skos:exactMatch hgnc.symbol:13389 semapv:UnspecifiedMatching +OMIM:605399 NID2 skos:exactMatch hgnc.symbol:NID2 semapv:UnspecifiedMatching +OMIM:605399 NID2 skos:exactMatch ncbigene:22795 semapv:UnspecifiedMatching +OMIM:605400 fibromatosis, gingival, with hypertrichosis and mental retardation skos:exactMatch MONDO:0011550 semapv:UnspecifiedMatching +OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:6111 semapv:UnspecifiedMatching +OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:IQGAP2 semapv:UnspecifiedMatching +OMIM:605401 IQGAP2 skos:exactMatch ncbigene:10788 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch UMLS:C1540292 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch hgnc.symbol:17635 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch hgnc.symbol:CD274 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch ncbigene:29126 semapv:UnspecifiedMatching +OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:16711 semapv:UnspecifiedMatching +OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:TLR6 semapv:UnspecifiedMatching +OMIM:605403 TLR6 skos:exactMatch ncbigene:10333 semapv:UnspecifiedMatching +OMIM:605404 BOK skos:exactMatch hgnc.symbol:1087 semapv:UnspecifiedMatching +OMIM:605404 BOK skos:exactMatch hgnc.symbol:BOK semapv:UnspecifiedMatching +OMIM:605404 BOK skos:exactMatch ncbigene:666 semapv:UnspecifiedMatching +OMIM:605405 USP6NL skos:exactMatch hgnc.symbol:16858 semapv:UnspecifiedMatching +OMIM:605405 USP6NL skos:exactMatch hgnc.symbol:USP6NL semapv:UnspecifiedMatching +OMIM:605405 USP6NL skos:exactMatch ncbigene:9712 semapv:UnspecifiedMatching +OMIM:605406 TMED10 skos:exactMatch hgnc.symbol:16998 semapv:UnspecifiedMatching +OMIM:605406 TMED10 skos:exactMatch hgnc.symbol:TMED10 semapv:UnspecifiedMatching +OMIM:605406 TMED10 skos:exactMatch ncbigene:10972 semapv:UnspecifiedMatching +OMIM:605407 segawa syndrome, autosomal recessive skos:exactMatch MONDO:0011551 semapv:UnspecifiedMatching +OMIM:605409 TCERG1 skos:exactMatch hgnc.symbol:15630 semapv:UnspecifiedMatching +OMIM:605409 TCERG1 skos:exactMatch hgnc.symbol:TCERG1 semapv:UnspecifiedMatching +OMIM:605409 TCERG1 skos:exactMatch ncbigene:10915 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch UMLS:C1416561 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch hgnc.symbol:6238 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch hgnc.symbol:KCND2 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch ncbigene:3751 semapv:UnspecifiedMatching +OMIM:605411 KCND3 skos:exactMatch hgnc.symbol:6239 semapv:UnspecifiedMatching +OMIM:605411 KCND3 skos:exactMatch hgnc.symbol:KCND3 semapv:UnspecifiedMatching +OMIM:605411 KCND3 skos:exactMatch ncbigene:3752 semapv:UnspecifiedMatching +OMIM:605412 RABL2A skos:exactMatch hgnc.symbol:9799 semapv:UnspecifiedMatching +OMIM:605412 RABL2A skos:exactMatch hgnc.symbol:RABL2A semapv:UnspecifiedMatching +OMIM:605412 RABL2A skos:exactMatch ncbigene:11159 semapv:UnspecifiedMatching +OMIM:605413 RABL2B skos:exactMatch hgnc.symbol:9800 semapv:UnspecifiedMatching +OMIM:605413 RABL2B skos:exactMatch hgnc.symbol:RABL2B semapv:UnspecifiedMatching +OMIM:605413 RABL2B skos:exactMatch ncbigene:11158 semapv:UnspecifiedMatching +OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:37 semapv:UnspecifiedMatching +OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:ABCA7 semapv:UnspecifiedMatching +OMIM:605414 ABCA7 skos:exactMatch ncbigene:10347 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch UMLS:C1414058 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:2892 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:DKK2 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch ncbigene:27123 semapv:UnspecifiedMatching +OMIM:605416 DKK3 skos:exactMatch UMLS:C1414059 semapv:UnspecifiedMatching +OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:2893 semapv:UnspecifiedMatching +OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:DKK3 semapv:UnspecifiedMatching +OMIM:605416 DKK3 skos:exactMatch ncbigene:27122 semapv:UnspecifiedMatching +OMIM:605417 DKK4 skos:exactMatch UMLS:C1414060 semapv:UnspecifiedMatching +OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:2894 semapv:UnspecifiedMatching +OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:DKK4 semapv:UnspecifiedMatching +OMIM:605417 DKK4 skos:exactMatch ncbigene:27121 semapv:UnspecifiedMatching +OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:16528 semapv:UnspecifiedMatching +OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:DKKL1 semapv:UnspecifiedMatching +OMIM:605418 DKKL1 skos:exactMatch ncbigene:27120 semapv:UnspecifiedMatching +OMIM:605419 schizophrenia 10 skos:exactMatch MONDO:0011552 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch UMLS:C1412373 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch UMLS:C3809819 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:450 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:ALX4 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch ncbigene:60529 semapv:UnspecifiedMatching +OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:13202 semapv:UnspecifiedMatching +OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:ADAMTS9 semapv:UnspecifiedMatching +OMIM:605421 ADAMTS9 skos:exactMatch ncbigene:56999 semapv:UnspecifiedMatching +OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:16656 semapv:UnspecifiedMatching +OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:ZNF350 semapv:UnspecifiedMatching +OMIM:605422 ZNF350 skos:exactMatch ncbigene:59348 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch UMLS:C1414044 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch hgnc.symbol:2865 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch hgnc.symbol:DHH semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch ncbigene:50846 semapv:UnspecifiedMatching +OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:13632 semapv:UnspecifiedMatching +OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:MAML1 semapv:UnspecifiedMatching +OMIM:605424 MAML1 skos:exactMatch ncbigene:9794 semapv:UnspecifiedMatching +OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:4286 semapv:UnspecifiedMatching +OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:GJB4 semapv:UnspecifiedMatching +OMIM:605425 GJB4 skos:exactMatch ncbigene:127534 semapv:UnspecifiedMatching +OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:29984 semapv:UnspecifiedMatching +OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:TP53AIP1 semapv:UnspecifiedMatching +OMIM:605426 TP53AIP1 skos:exactMatch ncbigene:63970 semapv:UnspecifiedMatching +OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:18083 semapv:UnspecifiedMatching +OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:TRPV4 semapv:UnspecifiedMatching +OMIM:605427 TRPV4 skos:exactMatch ncbigene:59341 semapv:UnspecifiedMatching +OMIM:605428 deafness, autosomal recessive 26 skos:exactMatch MONDO:0011553 semapv:UnspecifiedMatching +OMIM:605429 deafness, autosomal recessive 26, modifier of skos:exactMatch MONDO:0011554 semapv:UnspecifiedMatching +OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:14524 semapv:UnspecifiedMatching +OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:SPAG9 semapv:UnspecifiedMatching +OMIM:605430 SPAG9 skos:exactMatch ncbigene:9043 semapv:UnspecifiedMatching +OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:6884 semapv:UnspecifiedMatching +OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:MAPK8IP3 semapv:UnspecifiedMatching +OMIM:605431 MAPK8IP3 skos:exactMatch ncbigene:23162 semapv:UnspecifiedMatching +OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch MONDO:0024558 semapv:UnspecifiedMatching +OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:14566 semapv:UnspecifiedMatching +OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:KIF13A semapv:UnspecifiedMatching +OMIM:605433 KIF13A skos:exactMatch ncbigene:63971 semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch UMLS:C1426354 semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:19715 semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:CLSPN semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch ncbigene:63967 semapv:UnspecifiedMatching +OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:9407 semapv:UnspecifiedMatching +OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:PRKD1 semapv:UnspecifiedMatching +OMIM:605435 PRKD1 skos:exactMatch ncbigene:5587 semapv:UnspecifiedMatching +OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:33067 semapv:UnspecifiedMatching +OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:SNORD116-1 semapv:UnspecifiedMatching +OMIM:605436 SNORD116-1 skos:exactMatch ncbigene:100033413 semapv:UnspecifiedMatching +OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:9403 semapv:UnspecifiedMatching +OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:PRKCH semapv:UnspecifiedMatching +OMIM:605437 PRKCH skos:exactMatch ncbigene:5583 semapv:UnspecifiedMatching +OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:2906 semapv:UnspecifiedMatching +OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:DLGAP2 semapv:UnspecifiedMatching +OMIM:605438 DLGAP2 skos:exactMatch ncbigene:9228 semapv:UnspecifiedMatching +OMIM:605439 EHF skos:exactMatch hgnc.symbol:3246 semapv:UnspecifiedMatching +OMIM:605439 EHF skos:exactMatch hgnc.symbol:EHF semapv:UnspecifiedMatching +OMIM:605439 EHF skos:exactMatch ncbigene:26298 semapv:UnspecifiedMatching +OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:1237 semapv:UnspecifiedMatching +OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:UBQLN4 semapv:UnspecifiedMatching +OMIM:605440 UBQLN4 skos:exactMatch ncbigene:56893 semapv:UnspecifiedMatching +OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:13633 semapv:UnspecifiedMatching +OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:ADIPOQ semapv:UnspecifiedMatching +OMIM:605441 ADIPOQ skos:exactMatch ncbigene:9370 semapv:UnspecifiedMatching +OMIM:605442 WTAP skos:exactMatch hgnc.symbol:16846 semapv:UnspecifiedMatching +OMIM:605442 WTAP skos:exactMatch hgnc.symbol:WTAP semapv:UnspecifiedMatching +OMIM:605442 WTAP skos:exactMatch ncbigene:9589 semapv:UnspecifiedMatching +OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:30145 semapv:UnspecifiedMatching +OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:PCGEM1 semapv:UnspecifiedMatching +OMIM:605443 PCGEM1 skos:exactMatch ncbigene:64002 semapv:UnspecifiedMatching +OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:17886 semapv:UnspecifiedMatching +OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:RBMXL2 semapv:UnspecifiedMatching +OMIM:605444 RBMXL2 skos:exactMatch ncbigene:27288 semapv:UnspecifiedMatching +OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:2905 semapv:UnspecifiedMatching +OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:DLGAP1 semapv:UnspecifiedMatching +OMIM:605445 DLGAP1 skos:exactMatch ncbigene:9229 semapv:UnspecifiedMatching +OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:13436 semapv:UnspecifiedMatching +OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:RPGRIP1 semapv:UnspecifiedMatching +OMIM:605446 RPGRIP1 skos:exactMatch ncbigene:57096 semapv:UnspecifiedMatching +OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:19078 semapv:UnspecifiedMatching +OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:SNHG32 semapv:UnspecifiedMatching +OMIM:605447 SNHG32 skos:exactMatch ncbigene:50854 semapv:UnspecifiedMatching +OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:16984 semapv:UnspecifiedMatching +OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:RUNDC3A semapv:UnspecifiedMatching +OMIM:605448 RUNDC3A skos:exactMatch ncbigene:10900 semapv:UnspecifiedMatching +OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:4628 semapv:UnspecifiedMatching +OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:GSTA3 semapv:UnspecifiedMatching +OMIM:605449 GSTA3 skos:exactMatch ncbigene:2940 semapv:UnspecifiedMatching +OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:4629 semapv:UnspecifiedMatching +OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:GSTA4 semapv:UnspecifiedMatching +OMIM:605450 GSTA4 skos:exactMatch ncbigene:2941 semapv:UnspecifiedMatching +OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:16059 semapv:UnspecifiedMatching +OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:PAK4 semapv:UnspecifiedMatching +OMIM:605451 PAK4 skos:exactMatch ncbigene:10298 semapv:UnspecifiedMatching +OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:47 semapv:UnspecifiedMatching +OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:ABCB6 semapv:UnspecifiedMatching +OMIM:605452 ABCB6 skos:exactMatch ncbigene:10058 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch UMLS:C1412075 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:50 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:ABCB9 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch ncbigene:23457 semapv:UnspecifiedMatching +OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:41 semapv:UnspecifiedMatching +OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:ABCB10 semapv:UnspecifiedMatching +OMIM:605454 ABCB10 skos:exactMatch ncbigene:23456 semapv:UnspecifiedMatching +OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:14259 semapv:UnspecifiedMatching +OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:RAB26 semapv:UnspecifiedMatching +OMIM:605455 RAB26 skos:exactMatch ncbigene:25837 semapv:UnspecifiedMatching +OMIM:605456 BET1 skos:exactMatch hgnc.symbol:14562 semapv:UnspecifiedMatching +OMIM:605456 BET1 skos:exactMatch hgnc.symbol:BET1 semapv:UnspecifiedMatching +OMIM:605456 BET1 skos:exactMatch ncbigene:10282 semapv:UnspecifiedMatching +OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:13700 semapv:UnspecifiedMatching +OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:IL22RA1 semapv:UnspecifiedMatching +OMIM:605457 IL22RA1 skos:exactMatch ncbigene:58985 semapv:UnspecifiedMatching +OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:18015 semapv:UnspecifiedMatching +OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:IL17RB semapv:UnspecifiedMatching +OMIM:605458 IL17RB skos:exactMatch ncbigene:55540 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch UMLS:C1422255 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:13886 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:ABCG5 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch ncbigene:64240 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch UMLS:C1422256 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch UMLS:C1969115 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:13887 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:ABCG8 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch ncbigene:64241 semapv:UnspecifiedMatching +OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:5985 semapv:UnspecifiedMatching +OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:IL17RA semapv:UnspecifiedMatching +OMIM:605461 IL17RA skos:exactMatch ncbigene:23765 semapv:UnspecifiedMatching +OMIM:605462 basal cell carcinoma, susceptibility to, 1 skos:exactMatch MONDO:0011556 semapv:UnspecifiedMatching +OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch MONDO:0011557 semapv:UnspecifiedMatching +OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:49 semapv:UnspecifiedMatching +OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:ABCB8 semapv:UnspecifiedMatching +OMIM:605464 ABCB8 skos:exactMatch ncbigene:11194 semapv:UnspecifiedMatching +OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:13070 semapv:UnspecifiedMatching +OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:ZNF277 semapv:UnspecifiedMatching +OMIM:605465 ZNF277 skos:exactMatch ncbigene:11179 semapv:UnspecifiedMatching +OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:15757 semapv:UnspecifiedMatching +OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:SIRPG semapv:UnspecifiedMatching +OMIM:605466 SIRPG skos:exactMatch ncbigene:55423 semapv:UnspecifiedMatching +OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:13068 semapv:UnspecifiedMatching +OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:ZNF274 semapv:UnspecifiedMatching +OMIM:605467 ZNF274 skos:exactMatch ncbigene:10782 semapv:UnspecifiedMatching +OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:17147 semapv:UnspecifiedMatching +OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:CDC42EP4 semapv:UnspecifiedMatching +OMIM:605468 CDC42EP4 skos:exactMatch ncbigene:23580 semapv:UnspecifiedMatching +OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:17071 semapv:UnspecifiedMatching +OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:KDM4C semapv:UnspecifiedMatching +OMIM:605469 KDM4C skos:exactMatch ncbigene:23081 semapv:UnspecifiedMatching +OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:14249 semapv:UnspecifiedMatching +OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:MMP26 semapv:UnspecifiedMatching +OMIM:605470 MMP26 skos:exactMatch ncbigene:56547 semapv:UnspecifiedMatching +OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:13180 semapv:UnspecifiedMatching +OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:ZFYVE1 semapv:UnspecifiedMatching +OMIM:605471 ZFYVE1 skos:exactMatch ncbigene:53349 semapv:UnspecifiedMatching +OMIM:605472 usher syndrome, iia 2c skos:exactMatch MONDO:0011558 semapv:UnspecifiedMatching +OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:12510 semapv:UnspecifiedMatching +OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:UBQLN3 semapv:UnspecifiedMatching +OMIM:605473 UBQLN3 skos:exactMatch ncbigene:50613 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch UMLS:C1423633 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:15633 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:TLR9 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch ncbigene:54106 semapv:UnspecifiedMatching +OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:947 semapv:UnspecifiedMatching +OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:BAIAP2 semapv:UnspecifiedMatching +OMIM:605475 BAIAP2 skos:exactMatch ncbigene:10458 semapv:UnspecifiedMatching +OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:16921 semapv:UnspecifiedMatching +OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:AGAP2 semapv:UnspecifiedMatching +OMIM:605476 AGAP2 skos:exactMatch ncbigene:116986 semapv:UnspecifiedMatching +OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:15607 semapv:UnspecifiedMatching +OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:ARHGEF7 semapv:UnspecifiedMatching +OMIM:605477 ARHGEF7 skos:exactMatch ncbigene:8874 semapv:UnspecifiedMatching +OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:30575 semapv:UnspecifiedMatching +OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:SIGIRR semapv:UnspecifiedMatching +OMIM:605478 SIGIRR skos:exactMatch ncbigene:59307 semapv:UnspecifiedMatching +OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 skos:exactMatch MONDO:0011559 semapv:UnspecifiedMatching +OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch MONDO:0011560 semapv:UnspecifiedMatching +OMIM:605481 ASPM skos:exactMatch hgnc.symbol:19048 semapv:UnspecifiedMatching +OMIM:605481 ASPM skos:exactMatch hgnc.symbol:ASPM semapv:UnspecifiedMatching +OMIM:605481 ASPM skos:exactMatch ncbigene:259266 semapv:UnspecifiedMatching +OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:13312 semapv:UnspecifiedMatching +OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:GSTO1 semapv:UnspecifiedMatching +OMIM:605482 GSTO1 skos:exactMatch ncbigene:9446 semapv:UnspecifiedMatching +OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:18744 semapv:UnspecifiedMatching +OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:DNAI2 semapv:UnspecifiedMatching +OMIM:605483 DNAI2 skos:exactMatch ncbigene:64446 semapv:UnspecifiedMatching +OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:24692 semapv:UnspecifiedMatching +OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:FCAMR semapv:UnspecifiedMatching +OMIM:605484 FCAMR skos:exactMatch ncbigene:83953 semapv:UnspecifiedMatching +OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:12713 semapv:UnspecifiedMatching +OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:VPS41 semapv:UnspecifiedMatching +OMIM:605485 VPS41 skos:exactMatch ncbigene:27072 semapv:UnspecifiedMatching +OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:16967 semapv:UnspecifiedMatching +OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:ARPP19 semapv:UnspecifiedMatching +OMIM:605487 ARPP19 skos:exactMatch ncbigene:10776 semapv:UnspecifiedMatching +OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:16968 semapv:UnspecifiedMatching +OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:ARPP21 semapv:UnspecifiedMatching +OMIM:605488 ARPP21 skos:exactMatch ncbigene:10777 semapv:UnspecifiedMatching +OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:14313 semapv:UnspecifiedMatching +OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:IFT81 semapv:UnspecifiedMatching +OMIM:605489 IFT81 skos:exactMatch ncbigene:28981 semapv:UnspecifiedMatching +OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:9479 semapv:UnspecifiedMatching +OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:LONP1 semapv:UnspecifiedMatching +OMIM:605490 LONP1 skos:exactMatch ncbigene:9361 semapv:UnspecifiedMatching +OMIM:605491 NEBL skos:exactMatch hgnc.symbol:16932 semapv:UnspecifiedMatching +OMIM:605491 NEBL skos:exactMatch hgnc.symbol:NEBL semapv:UnspecifiedMatching +OMIM:605491 NEBL skos:exactMatch ncbigene:10529 semapv:UnspecifiedMatching +OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:16914 semapv:UnspecifiedMatching +OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:LRRN2 semapv:UnspecifiedMatching +OMIM:605492 LRRN2 skos:exactMatch ncbigene:10446 semapv:UnspecifiedMatching +OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:10064 semapv:UnspecifiedMatching +OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:TRIM3 semapv:UnspecifiedMatching +OMIM:605493 TRIM3 skos:exactMatch ncbigene:10612 semapv:UnspecifiedMatching +OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:6157 semapv:UnspecifiedMatching +OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:ITGB3BP semapv:UnspecifiedMatching +OMIM:605494 ITGB3BP skos:exactMatch ncbigene:23421 semapv:UnspecifiedMatching +OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:10961 semapv:UnspecifiedMatching +OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:SLCO1B3 semapv:UnspecifiedMatching +OMIM:605495 SLCO1B3 skos:exactMatch ncbigene:28234 semapv:UnspecifiedMatching +OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:1858 semapv:UnspecifiedMatching +OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:CNTRL semapv:UnspecifiedMatching +OMIM:605496 CEP1 skos:exactMatch ncbigene:11064 semapv:UnspecifiedMatching +OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:2379 semapv:UnspecifiedMatching +OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:CRTAP semapv:UnspecifiedMatching +OMIM:605497 CRTAP skos:exactMatch ncbigene:10491 semapv:UnspecifiedMatching +OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:7212 semapv:UnspecifiedMatching +OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:KIF20B semapv:UnspecifiedMatching +OMIM:605498 MPHOSPH1 skos:exactMatch ncbigene:9585 semapv:UnspecifiedMatching +OMIM:605499 zw10 interactor, antisense skos:exactMatch UMLS:C1421870 semapv:UnspecifiedMatching +OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:7214 semapv:UnspecifiedMatching +OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:MPHOSPH6 semapv:UnspecifiedMatching +OMIM:605500 MPHOSPH6 skos:exactMatch ncbigene:10200 semapv:UnspecifiedMatching +OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:7215 semapv:UnspecifiedMatching +OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:MPHOSPH9 semapv:UnspecifiedMatching +OMIM:605501 MPHOSPH9 skos:exactMatch ncbigene:10198 semapv:UnspecifiedMatching +OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:13192 semapv:UnspecifiedMatching +OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:DNAJC2 semapv:UnspecifiedMatching +OMIM:605502 DNAJC2 skos:exactMatch ncbigene:27000 semapv:UnspecifiedMatching +OMIM:605503 MPHOSPH10 skos:exactMatch hgnc.symbol:7213 semapv:UnspecifiedMatching +OMIM:605503 MPHOSPH10 skos:exactMatch hgnc.symbol:MPHOSPH10 semapv:UnspecifiedMatching +OMIM:605503 MPHOSPH10 skos:exactMatch ncbigene:10199 semapv:UnspecifiedMatching +OMIM:605504 KLK9 skos:exactMatch hgnc.symbol:6370 semapv:UnspecifiedMatching +OMIM:605504 KLK9 skos:exactMatch hgnc.symbol:KLK9 semapv:UnspecifiedMatching +OMIM:605504 KLK9 skos:exactMatch ncbigene:284366 semapv:UnspecifiedMatching +OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:6361 semapv:UnspecifiedMatching +OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:KLK13 semapv:UnspecifiedMatching +OMIM:605505 KLK13 skos:exactMatch ncbigene:26085 semapv:UnspecifiedMatching +OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:12711 semapv:UnspecifiedMatching +OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:VPS26A semapv:UnspecifiedMatching +OMIM:605506 VPS26A skos:exactMatch ncbigene:9559 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch UMLS:C1423573 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:15561 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:IL36RN semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch ncbigene:26525 semapv:UnspecifiedMatching +OMIM:605508 IL36B skos:exactMatch hgnc.symbol:15564 semapv:UnspecifiedMatching +OMIM:605508 IL36B skos:exactMatch hgnc.symbol:IL36B semapv:UnspecifiedMatching +OMIM:605508 IL36B skos:exactMatch ncbigene:27177 semapv:UnspecifiedMatching +OMIM:605509 IL36A skos:exactMatch hgnc.symbol:15562 semapv:UnspecifiedMatching +OMIM:605509 IL36A skos:exactMatch hgnc.symbol:IL36A semapv:UnspecifiedMatching +OMIM:605509 IL36A skos:exactMatch ncbigene:27179 semapv:UnspecifiedMatching +OMIM:605510 IL37 skos:exactMatch hgnc.symbol:15563 semapv:UnspecifiedMatching +OMIM:605510 IL37 skos:exactMatch hgnc.symbol:IL37 semapv:UnspecifiedMatching +OMIM:605510 IL37 skos:exactMatch ncbigene:27178 semapv:UnspecifiedMatching +OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:11877 semapv:UnspecifiedMatching +OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:TMPRSS3 semapv:UnspecifiedMatching +OMIM:605511 TMPRSS3 skos:exactMatch ncbigene:64699 semapv:UnspecifiedMatching +OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:14415 semapv:UnspecifiedMatching +OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:ELOVL4 semapv:UnspecifiedMatching +OMIM:605512 ELOVL4 skos:exactMatch ncbigene:6785 semapv:UnspecifiedMatching +OMIM:605513 MLANA skos:exactMatch hgnc.symbol:7124 semapv:UnspecifiedMatching +OMIM:605513 MLANA skos:exactMatch hgnc.symbol:MLANA semapv:UnspecifiedMatching +OMIM:605513 MLANA skos:exactMatch ncbigene:2315 semapv:UnspecifiedMatching +OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:14674 semapv:UnspecifiedMatching +OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:PCDH15 semapv:UnspecifiedMatching +OMIM:605514 PCDH15 skos:exactMatch ncbigene:65217 semapv:UnspecifiedMatching +OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:3823 semapv:UnspecifiedMatching +OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:FOXP1 semapv:UnspecifiedMatching +OMIM:605515 FOXP1 skos:exactMatch ncbigene:27086 semapv:UnspecifiedMatching +OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:13733 semapv:UnspecifiedMatching +OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:CDH23 semapv:UnspecifiedMatching +OMIM:605516 CDH23 skos:exactMatch ncbigene:64072 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch UMLS:C1423631 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch UMLS:C3809042 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:15685 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:B4GAT1 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch ncbigene:11041 semapv:UnspecifiedMatching +OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:13345 semapv:UnspecifiedMatching +OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:LPIN1 semapv:UnspecifiedMatching +OMIM:605518 LPIN1 skos:exactMatch ncbigene:23175 semapv:UnspecifiedMatching +OMIM:605519 LPIN2 skos:exactMatch hgnc.symbol:14450 semapv:UnspecifiedMatching +OMIM:605519 LPIN2 skos:exactMatch hgnc.symbol:LPIN2 semapv:UnspecifiedMatching +OMIM:605519 LPIN2 skos:exactMatch ncbigene:9663 semapv:UnspecifiedMatching +OMIM:605520 LPIN3 skos:exactMatch hgnc.symbol:14451 semapv:UnspecifiedMatching +OMIM:605520 LPIN3 skos:exactMatch hgnc.symbol:LPIN3 semapv:UnspecifiedMatching +OMIM:605520 LPIN3 skos:exactMatch ncbigene:64900 semapv:UnspecifiedMatching +OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:11589 semapv:UnspecifiedMatching +OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:TBPL1 semapv:UnspecifiedMatching +OMIM:605521 TBPL1 skos:exactMatch ncbigene:9519 semapv:UnspecifiedMatching +OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:13243 semapv:UnspecifiedMatching +OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:LMBR1 semapv:UnspecifiedMatching +OMIM:605522 LMBR1 skos:exactMatch ncbigene:64327 semapv:UnspecifiedMatching +OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:11979 semapv:UnspecifiedMatching +OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:TOB1 semapv:UnspecifiedMatching +OMIM:605523 TOB1 skos:exactMatch ncbigene:10140 semapv:UnspecifiedMatching +OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:24576 semapv:UnspecifiedMatching +OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:CDT1 semapv:UnspecifiedMatching +OMIM:605525 CDT1 skos:exactMatch ncbigene:81620 semapv:UnspecifiedMatching +OMIM:605526 alzheimer disease 6 skos:exactMatch MONDO:0011561 semapv:UnspecifiedMatching +OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:6905 semapv:UnspecifiedMatching +OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:MAT2B semapv:UnspecifiedMatching +OMIM:605527 MAT2B skos:exactMatch ncbigene:27430 semapv:UnspecifiedMatching +OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:7759 semapv:UnspecifiedMatching +OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:NEU2 semapv:UnspecifiedMatching +OMIM:605528 NEU2 skos:exactMatch ncbigene:4759 semapv:UnspecifiedMatching +OMIM:605529 UPF2 skos:exactMatch UMLS:C1425133 semapv:UnspecifiedMatching +OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:17854 semapv:UnspecifiedMatching +OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:UPF2 semapv:UnspecifiedMatching +OMIM:605529 UPF2 skos:exactMatch ncbigene:26019 semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch UMLS:C1426867 semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:20332 semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:UPF3A semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch ncbigene:65110 semapv:UnspecifiedMatching +OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:16809 semapv:UnspecifiedMatching +OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:SMURF2 semapv:UnspecifiedMatching +OMIM:605532 SMURF2 skos:exactMatch ncbigene:64750 semapv:UnspecifiedMatching +OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:7999 semapv:UnspecifiedMatching +OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:NRG3 semapv:UnspecifiedMatching +OMIM:605533 NRG3 skos:exactMatch ncbigene:10718 semapv:UnspecifiedMatching +OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:5001 semapv:UnspecifiedMatching +OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:HMG20A semapv:UnspecifiedMatching +OMIM:605534 HMG20A skos:exactMatch ncbigene:10363 semapv:UnspecifiedMatching +OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:5002 semapv:UnspecifiedMatching +OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:HMG20B semapv:UnspecifiedMatching +OMIM:605535 HMG20B skos:exactMatch ncbigene:10362 semapv:UnspecifiedMatching +OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:24845 semapv:UnspecifiedMatching +OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:RAB11FIP5 semapv:UnspecifiedMatching +OMIM:605536 RAB11FIP5 skos:exactMatch ncbigene:26056 semapv:UnspecifiedMatching +OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:791 semapv:UnspecifiedMatching +OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:ATF6 semapv:UnspecifiedMatching +OMIM:605537 ATF6 skos:exactMatch ncbigene:22926 semapv:UnspecifiedMatching +OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:8040 semapv:UnspecifiedMatching +OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:NTSR2 semapv:UnspecifiedMatching +OMIM:605538 NTSR2 skos:exactMatch ncbigene:23620 semapv:UnspecifiedMatching +OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:6360 semapv:UnspecifiedMatching +OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:KLK12 semapv:UnspecifiedMatching +OMIM:605539 KLK12 skos:exactMatch ncbigene:43849 semapv:UnspecifiedMatching +OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:30758 semapv:UnspecifiedMatching +OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:TENT4B semapv:UnspecifiedMatching +OMIM:605540 TENT4B skos:exactMatch ncbigene:64282 semapv:UnspecifiedMatching +OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:12659 semapv:UnspecifiedMatching +OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:VAV3 semapv:UnspecifiedMatching +OMIM:605541 VAV3 skos:exactMatch ncbigene:10451 semapv:UnspecifiedMatching +OMIM:605542 IL36G skos:exactMatch hgnc.symbol:15741 semapv:UnspecifiedMatching +OMIM:605542 IL36G skos:exactMatch hgnc.symbol:IL36G semapv:UnspecifiedMatching +OMIM:605542 IL36G skos:exactMatch ncbigene:56300 semapv:UnspecifiedMatching +OMIM:605543 parkinson disease 4, autosomal dominant skos:exactMatch MONDO:0011562 semapv:UnspecifiedMatching +OMIM:605544 fibromatosis, gingival, 2 skos:exactMatch MONDO:0011563 semapv:UnspecifiedMatching +OMIM:605545 CD163 skos:exactMatch hgnc.symbol:1631 semapv:UnspecifiedMatching +OMIM:605545 CD163 skos:exactMatch hgnc.symbol:CD163 semapv:UnspecifiedMatching +OMIM:605545 CD163 skos:exactMatch ncbigene:9332 semapv:UnspecifiedMatching +OMIM:605546 GP6 skos:exactMatch hgnc.symbol:14388 semapv:UnspecifiedMatching +OMIM:605546 GP6 skos:exactMatch hgnc.symbol:GP6 semapv:UnspecifiedMatching +OMIM:605546 GP6 skos:exactMatch ncbigene:51206 semapv:UnspecifiedMatching +OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:3972 semapv:UnspecifiedMatching +OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:FSTL1 semapv:UnspecifiedMatching +OMIM:605547 FSTL1 skos:exactMatch ncbigene:11167 semapv:UnspecifiedMatching +OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:193 semapv:UnspecifiedMatching +OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:ADAM15 semapv:UnspecifiedMatching +OMIM:605548 ADAM15 skos:exactMatch ncbigene:8751 semapv:UnspecifiedMatching +OMIM:605549 cone-rod dystrophy 8 skos:exactMatch MONDO:0011564 semapv:UnspecifiedMatching +OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:15828 semapv:UnspecifiedMatching +OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:RASD1 semapv:UnspecifiedMatching +OMIM:605550 RASD1 skos:exactMatch ncbigene:51655 semapv:UnspecifiedMatching +OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:16859 semapv:UnspecifiedMatching +OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:NOS1AP semapv:UnspecifiedMatching +OMIM:605551 NOS1AP skos:exactMatch ncbigene:9722 semapv:UnspecifiedMatching +OMIM:605552 abdominal obesity-metabolic syndrome 1 skos:exactMatch MONDO:0011565 semapv:UnspecifiedMatching +OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:14981 semapv:UnspecifiedMatching +OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:PAPOLA semapv:UnspecifiedMatching +OMIM:605553 PAPOLA skos:exactMatch ncbigene:10914 semapv:UnspecifiedMatching +OMIM:605554 CD244 skos:exactMatch hgnc.symbol:18171 semapv:UnspecifiedMatching +OMIM:605554 CD244 skos:exactMatch hgnc.symbol:CD244 semapv:UnspecifiedMatching +OMIM:605554 CD244 skos:exactMatch ncbigene:51744 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch UMLS:C1412302 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch UMLS:C1863340 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch UMLS:C4538355 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch UMLS:C4540568 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch hgnc.symbol:358 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch hgnc.symbol:AIP semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch ncbigene:9049 semapv:UnspecifiedMatching +OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:13811 semapv:UnspecifiedMatching +OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:SLC4A10 semapv:UnspecifiedMatching +OMIM:605556 SLC4A10 skos:exactMatch ncbigene:57282 semapv:UnspecifiedMatching +OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:14000 semapv:UnspecifiedMatching +OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:PRDM16 semapv:UnspecifiedMatching +OMIM:605557 PRDM16 skos:exactMatch ncbigene:63976 semapv:UnspecifiedMatching +OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:3677 semapv:UnspecifiedMatching +OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:FGF20 semapv:UnspecifiedMatching +OMIM:605558 FGF20 skos:exactMatch ncbigene:26281 semapv:UnspecifiedMatching +OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:5123 semapv:UnspecifiedMatching +OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:HOXC11 semapv:UnspecifiedMatching +OMIM:605559 HOXC11 skos:exactMatch ncbigene:3227 semapv:UnspecifiedMatching +OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:5122 semapv:UnspecifiedMatching +OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:HOXC10 semapv:UnspecifiedMatching +OMIM:605560 HOXC10 skos:exactMatch ncbigene:3226 semapv:UnspecifiedMatching +OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:9025 semapv:UnspecifiedMatching +OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:PKP3 semapv:UnspecifiedMatching +OMIM:605561 PKP3 skos:exactMatch ncbigene:11187 semapv:UnspecifiedMatching +OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:7050 semapv:UnspecifiedMatching +OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:SCGB2A2 semapv:UnspecifiedMatching +OMIM:605562 SCGB2A2 skos:exactMatch ncbigene:4250 semapv:UnspecifiedMatching +OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:1384 semapv:UnspecifiedMatching +OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:CABP1 semapv:UnspecifiedMatching +OMIM:605563 CABP1 skos:exactMatch ncbigene:9478 semapv:UnspecifiedMatching +OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:24579 semapv:UnspecifiedMatching +OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:CIB2 semapv:UnspecifiedMatching +OMIM:605564 CIB2 skos:exactMatch ncbigene:10518 semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch UMLS:C1426906 semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch UMLS:C1854174 semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch hgnc.symbol:20389 semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch hgnc.symbol:RETN semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch ncbigene:56729 semapv:UnspecifiedMatching +OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:18601 semapv:UnspecifiedMatching +OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:RTN4R semapv:UnspecifiedMatching +OMIM:605566 RTN4R skos:exactMatch ncbigene:65078 semapv:UnspecifiedMatching +OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:17712 semapv:UnspecifiedMatching +OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:SIVA1 semapv:UnspecifiedMatching +OMIM:605567 SIVA1 skos:exactMatch ncbigene:10572 semapv:UnspecifiedMatching +OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:16807 semapv:UnspecifiedMatching +OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:SMURF1 semapv:UnspecifiedMatching +OMIM:605568 SMURF1 skos:exactMatch ncbigene:57154 semapv:UnspecifiedMatching +OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:4523 semapv:UnspecifiedMatching +OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:GPR83 semapv:UnspecifiedMatching +OMIM:605569 GPR83 skos:exactMatch ncbigene:10888 semapv:UnspecifiedMatching +OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:9760 semapv:UnspecifiedMatching +OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:RAB11A semapv:UnspecifiedMatching +OMIM:605570 RAB11A skos:exactMatch ncbigene:8766 semapv:UnspecifiedMatching +OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:9007 semapv:UnspecifiedMatching +OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:PIWIL1 semapv:UnspecifiedMatching +OMIM:605571 PIWIL1 skos:exactMatch ncbigene:9271 semapv:UnspecifiedMatching +OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch MONDO:0011566 semapv:UnspecifiedMatching +OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:5212 semapv:UnspecifiedMatching +OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:HSD17B3 semapv:UnspecifiedMatching +OMIM:605573 HSD17B3 skos:exactMatch ncbigene:3293 semapv:UnspecifiedMatching +OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:15937 semapv:UnspecifiedMatching +OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:UBE2C semapv:UnspecifiedMatching +OMIM:605574 UBE2C skos:exactMatch ncbigene:11065 semapv:UnspecifiedMatching +OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:14013 semapv:UnspecifiedMatching +OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:SMC4 semapv:UnspecifiedMatching +OMIM:605575 SMC4 skos:exactMatch ncbigene:10051 semapv:UnspecifiedMatching +OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:14011 semapv:UnspecifiedMatching +OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:SMC2 semapv:UnspecifiedMatching +OMIM:605576 SMC2 skos:exactMatch ncbigene:10592 semapv:UnspecifiedMatching +OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:9879 semapv:UnspecifiedMatching +OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:RASGRP2 semapv:UnspecifiedMatching +OMIM:605577 RASGRP2 skos:exactMatch ncbigene:10235 semapv:UnspecifiedMatching +OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:5413 semapv:UnspecifiedMatching +OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:IFITM2 semapv:UnspecifiedMatching +OMIM:605578 IFITM2 skos:exactMatch ncbigene:10581 semapv:UnspecifiedMatching +OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:5414 semapv:UnspecifiedMatching +OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:IFITM3 semapv:UnspecifiedMatching +OMIM:605579 IFITM3 skos:exactMatch ncbigene:10410 semapv:UnspecifiedMatching +OMIM:605580 IL23A skos:exactMatch hgnc.symbol:15488 semapv:UnspecifiedMatching +OMIM:605580 IL23A skos:exactMatch hgnc.symbol:IL23A semapv:UnspecifiedMatching +OMIM:605580 IL23A skos:exactMatch ncbigene:51561 semapv:UnspecifiedMatching +OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:15629 semapv:UnspecifiedMatching +OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:B3GNT2 semapv:UnspecifiedMatching +OMIM:605581 B3GNT2 skos:exactMatch ncbigene:10678 semapv:UnspecifiedMatching +OMIM:605582 cardiomyopathy, dilated, 1k skos:exactMatch MONDO:0011567 semapv:UnspecifiedMatching +OMIM:605583 deafness, autosomal dominant 25 skos:exactMatch MONDO:0011568 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch UMLS:C1424825 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:17211 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:DHX38 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch ncbigene:9785 semapv:UnspecifiedMatching +OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:17350 semapv:UnspecifiedMatching +OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:CDC40 semapv:UnspecifiedMatching +OMIM:605585 CDC40 skos:exactMatch ncbigene:51362 semapv:UnspecifiedMatching +OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:9852 semapv:UnspecifiedMatching +OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:IPO7 semapv:UnspecifiedMatching +OMIM:605586 IPO7 skos:exactMatch ncbigene:10527 semapv:UnspecifiedMatching +OMIM:605587 PI14 skos:exactMatch hgnc.symbol:8945 semapv:UnspecifiedMatching +OMIM:605587 PI14 skos:exactMatch hgnc.symbol:SERPINI2 semapv:UnspecifiedMatching +OMIM:605587 PI14 skos:exactMatch ncbigene:5276 semapv:UnspecifiedMatching +OMIM:605588 charcot-marie-tooth disease, axonal, iia 2b1 skos:exactMatch MONDO:0011569 semapv:UnspecifiedMatching +OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch MONDO:0011570 semapv:UnspecifiedMatching +OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching +OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch UMLS:C1419980 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:10768 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:SF3B1 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch ncbigene:23451 semapv:UnspecifiedMatching +OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:10769 semapv:UnspecifiedMatching +OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:SF3B2 semapv:UnspecifiedMatching +OMIM:605591 SF3B2 skos:exactMatch ncbigene:10992 semapv:UnspecifiedMatching +OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:10770 semapv:UnspecifiedMatching +OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:SF3B3 semapv:UnspecifiedMatching +OMIM:605592 SF3B3 skos:exactMatch ncbigene:23450 semapv:UnspecifiedMatching +OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:10771 semapv:UnspecifiedMatching +OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:SF3B4 semapv:UnspecifiedMatching +OMIM:605593 SF3B4 skos:exactMatch ncbigene:10262 semapv:UnspecifiedMatching +OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch MONDO:0011571 semapv:UnspecifiedMatching +OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:10765 semapv:UnspecifiedMatching +OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:SF3A1 semapv:UnspecifiedMatching +OMIM:605595 SF3A1 skos:exactMatch ncbigene:10291 semapv:UnspecifiedMatching +OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:10767 semapv:UnspecifiedMatching +OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:SF3A3 semapv:UnspecifiedMatching +OMIM:605596 SF3A3 skos:exactMatch ncbigene:10946 semapv:UnspecifiedMatching +OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:1092 semapv:UnspecifiedMatching +OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:FOXL2 semapv:UnspecifiedMatching +OMIM:605597 FOXL2 skos:exactMatch ncbigene:668 semapv:UnspecifiedMatching +OMIM:605598 iia 1 diabetes mellitus 18 skos:exactMatch MONDO:0011572 semapv:UnspecifiedMatching +OMIM:605598 iia 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching +OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:6737 semapv:UnspecifiedMatching +OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:LYPLA1 semapv:UnspecifiedMatching +OMIM:605599 LYPLA1 skos:exactMatch ncbigene:10434 semapv:UnspecifiedMatching +OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:9853 semapv:UnspecifiedMatching +OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:IPO8 semapv:UnspecifiedMatching +OMIM:605600 IPO8 skos:exactMatch ncbigene:10526 semapv:UnspecifiedMatching +OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:9362 semapv:UnspecifiedMatching +OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:PRG2 semapv:UnspecifiedMatching +OMIM:605601 PRG2 skos:exactMatch ncbigene:5553 semapv:UnspecifiedMatching +OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:1330 semapv:UnspecifiedMatching +OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:MYOZ2 semapv:UnspecifiedMatching +OMIM:605602 MYOZ2 skos:exactMatch ncbigene:51778 semapv:UnspecifiedMatching +OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:13752 semapv:UnspecifiedMatching +OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:MYOZ1 semapv:UnspecifiedMatching +OMIM:605603 MYOZ1 skos:exactMatch ncbigene:58529 semapv:UnspecifiedMatching +OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:17970 semapv:UnspecifiedMatching +OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:PAIP2 semapv:UnspecifiedMatching +OMIM:605604 PAIP2 skos:exactMatch ncbigene:51247 semapv:UnspecifiedMatching +OMIM:605606 psoriasis 7, susceptibility to skos:exactMatch MONDO:0011573 semapv:UnspecifiedMatching +OMIM:605607 CENPH skos:exactMatch hgnc.symbol:17268 semapv:UnspecifiedMatching +OMIM:605607 CENPH skos:exactMatch hgnc.symbol:CENPH semapv:UnspecifiedMatching +OMIM:605607 CENPH skos:exactMatch ncbigene:64946 semapv:UnspecifiedMatching +OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:2035 semapv:UnspecifiedMatching +OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:CLDN14 semapv:UnspecifiedMatching +OMIM:605608 CLDN14 skos:exactMatch ncbigene:23562 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch UMLS:C1423755 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:15822 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:OXR1 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch ncbigene:55074 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch UMLS:C1418707 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch hgnc.symbol:9154 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch hgnc.symbol:PNKP semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch ncbigene:11284 semapv:UnspecifiedMatching +OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:10826 semapv:UnspecifiedMatching +OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:SH3BP4 semapv:UnspecifiedMatching +OMIM:605611 SH3BP4 skos:exactMatch ncbigene:23677 semapv:UnspecifiedMatching +OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:10827 semapv:UnspecifiedMatching +OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:SH3BP5 semapv:UnspecifiedMatching +OMIM:605612 SH3BP5 skos:exactMatch ncbigene:9467 semapv:UnspecifiedMatching +OMIM:605613 HIP1R skos:exactMatch hgnc.symbol:18415 semapv:UnspecifiedMatching +OMIM:605613 HIP1R skos:exactMatch hgnc.symbol:HIP1R semapv:UnspecifiedMatching +OMIM:605613 HIP1R skos:exactMatch ncbigene:9026 semapv:UnspecifiedMatching +OMIM:605614 GCN1 skos:exactMatch UMLS:C1415018 semapv:UnspecifiedMatching +OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:4199 semapv:UnspecifiedMatching +OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:GCN1 semapv:UnspecifiedMatching +OMIM:605614 GCN1 skos:exactMatch ncbigene:10985 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch UMLS:C1412534 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:690 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:ARIH2 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch ncbigene:10425 semapv:UnspecifiedMatching +OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:30927 semapv:UnspecifiedMatching +OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:SLC6A20 semapv:UnspecifiedMatching +OMIM:605616 SLC6A20 skos:exactMatch ncbigene:54716 semapv:UnspecifiedMatching +OMIM:605618 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch MONDO:0011574 semapv:UnspecifiedMatching +OMIM:605619 IL20 skos:exactMatch hgnc.symbol:6002 semapv:UnspecifiedMatching +OMIM:605619 IL20 skos:exactMatch hgnc.symbol:IL20 semapv:UnspecifiedMatching +OMIM:605619 IL20 skos:exactMatch ncbigene:50604 semapv:UnspecifiedMatching +OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:6003 semapv:UnspecifiedMatching +OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:IL20RA semapv:UnspecifiedMatching +OMIM:605620 IL20RA skos:exactMatch ncbigene:53832 semapv:UnspecifiedMatching +OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:6004 semapv:UnspecifiedMatching +OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:IL20RB semapv:UnspecifiedMatching +OMIM:605621 IL20RB skos:exactMatch ncbigene:53833 semapv:UnspecifiedMatching +OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:8657 semapv:UnspecifiedMatching +OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:PCDH12 semapv:UnspecifiedMatching +OMIM:605622 PCDH12 skos:exactMatch ncbigene:51294 semapv:UnspecifiedMatching +OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:7109 semapv:UnspecifiedMatching +OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:MKLN1 semapv:UnspecifiedMatching +OMIM:605623 MKLN1 skos:exactMatch ncbigene:4289 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch UMLS:C1412533 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:689 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:ARIH1 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch ncbigene:25820 semapv:UnspecifiedMatching +OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:7563 semapv:UnspecifiedMatching +OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:MYEOV semapv:UnspecifiedMatching +OMIM:605625 MYEOV skos:exactMatch ncbigene:26579 semapv:UnspecifiedMatching +OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:13915 semapv:UnspecifiedMatching +OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:ERVK-6 semapv:UnspecifiedMatching +OMIM:605626 ERVK-6 skos:exactMatch ncbigene:64006 semapv:UnspecifiedMatching +OMIM:605627 cerebrooculonasal syndrome skos:exactMatch MONDO:0011575 semapv:UnspecifiedMatching +OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:16637 semapv:UnspecifiedMatching +OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:HTATIP2 semapv:UnspecifiedMatching +OMIM:605628 HTATIP2 skos:exactMatch ncbigene:10553 semapv:UnspecifiedMatching +OMIM:605629 CIT skos:exactMatch hgnc.symbol:1985 semapv:UnspecifiedMatching +OMIM:605629 CIT skos:exactMatch hgnc.symbol:CIT semapv:UnspecifiedMatching +OMIM:605629 CIT skos:exactMatch ncbigene:11113 semapv:UnspecifiedMatching +OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:9033 semapv:UnspecifiedMatching +OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:PLA2G2D semapv:UnspecifiedMatching +OMIM:605630 PLA2G2D skos:exactMatch ncbigene:26279 semapv:UnspecifiedMatching +OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:13395 semapv:UnspecifiedMatching +OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:NAPSA semapv:UnspecifiedMatching +OMIM:605631 NAPSA skos:exactMatch ncbigene:9476 semapv:UnspecifiedMatching +OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:11023 semapv:UnspecifiedMatching +OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:SLC35A3 semapv:UnspecifiedMatching +OMIM:605632 SLC35A3 skos:exactMatch ncbigene:23443 semapv:UnspecifiedMatching +OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:13384 semapv:UnspecifiedMatching +OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:MUC3B semapv:UnspecifiedMatching +OMIM:605633 MUC3B skos:exactMatch ncbigene:57876 semapv:UnspecifiedMatching +OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:11021 semapv:UnspecifiedMatching +OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:SLC35A1 semapv:UnspecifiedMatching +OMIM:605634 SLC35A1 skos:exactMatch ncbigene:10559 semapv:UnspecifiedMatching +OMIM:605635 hyperaldosteronism, familial, iia 2 skos:exactMatch MONDO:0011576 semapv:UnspecifiedMatching +OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:14575 semapv:UnspecifiedMatching +OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:MEG3 semapv:UnspecifiedMatching +OMIM:605636 MEG3 skos:exactMatch ncbigene:55384 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch MONDO:0011577 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching +OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:13516 semapv:UnspecifiedMatching +OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:BIRC6 semapv:UnspecifiedMatching +OMIM:605638 BIRC6 skos:exactMatch ncbigene:57448 semapv:UnspecifiedMatching +OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:10877 semapv:UnspecifiedMatching +OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:SIGLEC8 semapv:UnspecifiedMatching +OMIM:605639 SIGLEC8 skos:exactMatch ncbigene:27181 semapv:UnspecifiedMatching +OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:10878 semapv:UnspecifiedMatching +OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:SIGLEC9 semapv:UnspecifiedMatching +OMIM:605640 SIGLEC9 skos:exactMatch ncbigene:27180 semapv:UnspecifiedMatching +OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:11064 semapv:UnspecifiedMatching +OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:SLC7A6 semapv:UnspecifiedMatching +OMIM:605641 SLC7A6 skos:exactMatch ncbigene:9057 semapv:UnspecifiedMatching +OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia skos:exactMatch MONDO:0011578 semapv:UnspecifiedMatching +OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:6366 semapv:UnspecifiedMatching +OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:KLK5 semapv:UnspecifiedMatching +OMIM:605643 KLK5 skos:exactMatch ncbigene:25818 semapv:UnspecifiedMatching +OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:6369 semapv:UnspecifiedMatching +OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:KLK8 semapv:UnspecifiedMatching +OMIM:605644 KLK8 skos:exactMatch ncbigene:11202 semapv:UnspecifiedMatching +OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:20388 semapv:UnspecifiedMatching +OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:RETNLB semapv:UnspecifiedMatching +OMIM:605645 RETNLB skos:exactMatch ncbigene:84666 semapv:UnspecifiedMatching +OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:8818 semapv:UnspecifiedMatching +OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:SLC26A4 semapv:UnspecifiedMatching +OMIM:605646 SLC26A4 skos:exactMatch ncbigene:5172 semapv:UnspecifiedMatching +OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:13585 semapv:UnspecifiedMatching +OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:FBXO6 semapv:UnspecifiedMatching +OMIM:605647 FBXO6 skos:exactMatch ncbigene:26270 semapv:UnspecifiedMatching +OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:13586 semapv:UnspecifiedMatching +OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:FBXO7 semapv:UnspecifiedMatching +OMIM:605648 FBXO7 skos:exactMatch ncbigene:25793 semapv:UnspecifiedMatching +OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:13587 semapv:UnspecifiedMatching +OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:FBXO8 semapv:UnspecifiedMatching +OMIM:605649 FBXO8 skos:exactMatch ncbigene:26269 semapv:UnspecifiedMatching +OMIM:605650 POLK skos:exactMatch hgnc.symbol:9183 semapv:UnspecifiedMatching +OMIM:605650 POLK skos:exactMatch hgnc.symbol:POLK semapv:UnspecifiedMatching +OMIM:605650 POLK skos:exactMatch ncbigene:51426 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch UMLS:C1539505 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854075 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854076 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:13607 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:FBXW11 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch ncbigene:23291 semapv:UnspecifiedMatching +OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:13598 semapv:UnspecifiedMatching +OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:FBXL2 semapv:UnspecifiedMatching +OMIM:605652 FBXL2 skos:exactMatch ncbigene:25827 semapv:UnspecifiedMatching +OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:13599 semapv:UnspecifiedMatching +OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:FBXL3 semapv:UnspecifiedMatching +OMIM:605653 FBXL3 skos:exactMatch ncbigene:26224 semapv:UnspecifiedMatching +OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:13601 semapv:UnspecifiedMatching +OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:FBXL4 semapv:UnspecifiedMatching +OMIM:605654 FBXL4 skos:exactMatch ncbigene:26235 semapv:UnspecifiedMatching +OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:13602 semapv:UnspecifiedMatching +OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:FBXL5 semapv:UnspecifiedMatching +OMIM:605655 FBXL5 skos:exactMatch ncbigene:26234 semapv:UnspecifiedMatching +OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:13604 semapv:UnspecifiedMatching +OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:FBXL7 semapv:UnspecifiedMatching +OMIM:605656 FBXL7 skos:exactMatch ncbigene:23194 semapv:UnspecifiedMatching +OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:13606 semapv:UnspecifiedMatching +OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:KDM2A semapv:UnspecifiedMatching +OMIM:605657 KDM2A skos:exactMatch ncbigene:22992 semapv:UnspecifiedMatching +OMIM:605658 IL25 skos:exactMatch hgnc.symbol:13765 semapv:UnspecifiedMatching +OMIM:605658 IL25 skos:exactMatch hgnc.symbol:IL25 semapv:UnspecifiedMatching +OMIM:605658 IL25 skos:exactMatch ncbigene:64806 semapv:UnspecifiedMatching +OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:14351 semapv:UnspecifiedMatching +OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:CLEC2D semapv:UnspecifiedMatching +OMIM:605659 CLEC2D skos:exactMatch ncbigene:29121 semapv:UnspecifiedMatching +OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:4926 semapv:UnspecifiedMatching +OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:PFDN6 semapv:UnspecifiedMatching +OMIM:605660 PFDN6 skos:exactMatch ncbigene:10471 semapv:UnspecifiedMatching +OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:9976 semapv:UnspecifiedMatching +OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:TRIM13 semapv:UnspecifiedMatching +OMIM:605661 TRIM13 skos:exactMatch ncbigene:10206 semapv:UnspecifiedMatching +OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:9775 semapv:UnspecifiedMatching +OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:RAB36 semapv:UnspecifiedMatching +OMIM:605662 RAB36 skos:exactMatch ncbigene:9609 semapv:UnspecifiedMatching +OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:13437 semapv:UnspecifiedMatching +OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:RSPH14 semapv:UnspecifiedMatching +OMIM:605663 RSPH14 skos:exactMatch ncbigene:27156 semapv:UnspecifiedMatching +OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:9787 semapv:UnspecifiedMatching +OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:KIF20A semapv:UnspecifiedMatching +OMIM:605664 KIF20A skos:exactMatch ncbigene:10112 semapv:UnspecifiedMatching +OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:18274 semapv:UnspecifiedMatching +OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:CYSLTR2 semapv:UnspecifiedMatching +OMIM:605666 CYSLTR2 skos:exactMatch ncbigene:57105 semapv:UnspecifiedMatching +OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:30281 semapv:UnspecifiedMatching +OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:RGL1 semapv:UnspecifiedMatching +OMIM:605667 RGL1 skos:exactMatch ncbigene:23179 semapv:UnspecifiedMatching +OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:934 semapv:UnspecifiedMatching +OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:BACE2 semapv:UnspecifiedMatching +OMIM:605668 BACE2 skos:exactMatch ncbigene:25825 semapv:UnspecifiedMatching +OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:21079 semapv:UnspecifiedMatching +OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:PBOV1 semapv:UnspecifiedMatching +OMIM:605669 PBOV1 skos:exactMatch ncbigene:59351 semapv:UnspecifiedMatching +OMIM:605670 late-onset retinal degeneration skos:exactMatch MONDO:0011579 semapv:UnspecifiedMatching +OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:2937 semapv:UnspecifiedMatching +OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:DMXL1 semapv:UnspecifiedMatching +OMIM:605671 DMXL1 skos:exactMatch ncbigene:1657 semapv:UnspecifiedMatching +OMIM:605672 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch MONDO:0011580 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch UMLS:C1422240 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:13862 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:BTG4 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch ncbigene:54766 semapv:UnspecifiedMatching +OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:1132 semapv:UnspecifiedMatching +OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:BTG3 semapv:UnspecifiedMatching +OMIM:605674 BTG3 skos:exactMatch ncbigene:10950 semapv:UnspecifiedMatching +OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:10058 semapv:UnspecifiedMatching +OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:RNF14 semapv:UnspecifiedMatching +OMIM:605675 RNF14 skos:exactMatch ncbigene:9604 semapv:UnspecifiedMatching +OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma skos:exactMatch MONDO:0011581 semapv:UnspecifiedMatching +OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:16526 semapv:UnspecifiedMatching +OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:ACSL5 semapv:UnspecifiedMatching +OMIM:605677 ACSL5 skos:exactMatch ncbigene:51703 semapv:UnspecifiedMatching +OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:12744 semapv:UnspecifiedMatching +OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:MLXIPL semapv:UnspecifiedMatching +OMIM:605678 MLXIPL skos:exactMatch ncbigene:51085 semapv:UnspecifiedMatching +OMIM:605679 IL26 skos:exactMatch hgnc.symbol:17119 semapv:UnspecifiedMatching +OMIM:605679 IL26 skos:exactMatch hgnc.symbol:IL26 semapv:UnspecifiedMatching +OMIM:605679 IL26 skos:exactMatch ncbigene:55801 semapv:UnspecifiedMatching +OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:960 semapv:UnspecifiedMatching +OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:BAZ1A semapv:UnspecifiedMatching +OMIM:605680 BAZ1A skos:exactMatch ncbigene:11177 semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch UMLS:C1412742 semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:961 semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:BAZ1B semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch ncbigene:9031 semapv:UnspecifiedMatching +OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:962 semapv:UnspecifiedMatching +OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:BAZ2A semapv:UnspecifiedMatching +OMIM:605682 BAZ2A skos:exactMatch ncbigene:11176 semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch UMLS:C1412744 semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:963 semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:BAZ2B semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch ncbigene:29994 semapv:UnspecifiedMatching +OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:10063 semapv:UnspecifiedMatching +OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:TRIM34 semapv:UnspecifiedMatching +OMIM:605684 TRIM34 skos:exactMatch ncbigene:53840 semapv:UnspecifiedMatching +OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:5951 semapv:UnspecifiedMatching +OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:CADM1 semapv:UnspecifiedMatching +OMIM:605686 CADM1 skos:exactMatch ncbigene:23705 semapv:UnspecifiedMatching +OMIM:605687 IL19 skos:exactMatch hgnc.symbol:5990 semapv:UnspecifiedMatching +OMIM:605687 IL19 skos:exactMatch hgnc.symbol:IL19 semapv:UnspecifiedMatching +OMIM:605687 IL19 skos:exactMatch ncbigene:29949 semapv:UnspecifiedMatching +OMIM:605688 CPNE6 skos:exactMatch UMLS:C1413680 semapv:UnspecifiedMatching +OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:2319 semapv:UnspecifiedMatching +OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:CPNE6 semapv:UnspecifiedMatching +OMIM:605688 CPNE6 skos:exactMatch ncbigene:9362 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch UMLS:C1332778 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:2320 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:CPNE7 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch ncbigene:27132 semapv:UnspecifiedMatching +OMIM:605690 BICRA skos:exactMatch hgnc.symbol:4332 semapv:UnspecifiedMatching +OMIM:605690 BICRA skos:exactMatch hgnc.symbol:BICRA semapv:UnspecifiedMatching +OMIM:605690 BICRA skos:exactMatch ncbigene:29998 semapv:UnspecifiedMatching +OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:4333 semapv:UnspecifiedMatching +OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:NOP53 semapv:UnspecifiedMatching +OMIM:605691 NOP53 skos:exactMatch ncbigene:29997 semapv:UnspecifiedMatching +OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:17994 semapv:UnspecifiedMatching +OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:TRPM7 semapv:UnspecifiedMatching +OMIM:605692 TRPM7 skos:exactMatch ncbigene:54822 semapv:UnspecifiedMatching +OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:9770 semapv:UnspecifiedMatching +OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:RAB30 semapv:UnspecifiedMatching +OMIM:605693 RAB30 skos:exactMatch ncbigene:27314 semapv:UnspecifiedMatching +OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:9771 semapv:UnspecifiedMatching +OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:RAB31 semapv:UnspecifiedMatching +OMIM:605694 RAB31 skos:exactMatch ncbigene:11031 semapv:UnspecifiedMatching +OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:24206 semapv:UnspecifiedMatching +OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:BLOC1S4 semapv:UnspecifiedMatching +OMIM:605695 BLOC1S4 skos:exactMatch ncbigene:55330 semapv:UnspecifiedMatching +OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:6249 semapv:UnspecifiedMatching +OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:KCNG2 semapv:UnspecifiedMatching +OMIM:605696 KCNG2 skos:exactMatch ncbigene:26251 semapv:UnspecifiedMatching +OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:14893 semapv:UnspecifiedMatching +OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:ULBP1 semapv:UnspecifiedMatching +OMIM:605697 ULBP1 skos:exactMatch ncbigene:80329 semapv:UnspecifiedMatching +OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:14894 semapv:UnspecifiedMatching +OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:ULBP2 semapv:UnspecifiedMatching +OMIM:605698 ULBP2 skos:exactMatch ncbigene:80328 semapv:UnspecifiedMatching +OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:14895 semapv:UnspecifiedMatching +OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:ULBP3 semapv:UnspecifiedMatching +OMIM:605699 ULBP3 skos:exactMatch ncbigene:79465 semapv:UnspecifiedMatching +OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:10065 semapv:UnspecifiedMatching +OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:TRIM39 semapv:UnspecifiedMatching +OMIM:605700 TRIM39 skos:exactMatch ncbigene:56658 semapv:UnspecifiedMatching +OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:10072 semapv:UnspecifiedMatching +OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:TRIM10 semapv:UnspecifiedMatching +OMIM:605701 TRIM10 skos:exactMatch ncbigene:10107 semapv:UnspecifiedMatching +OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:14687 semapv:UnspecifiedMatching +OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:LYVE1 semapv:UnspecifiedMatching +OMIM:605702 LYVE1 skos:exactMatch ncbigene:10894 semapv:UnspecifiedMatching +OMIM:605703 VAPA skos:exactMatch hgnc.symbol:12648 semapv:UnspecifiedMatching +OMIM:605703 VAPA skos:exactMatch hgnc.symbol:VAPA semapv:UnspecifiedMatching +OMIM:605703 VAPA skos:exactMatch ncbigene:9218 semapv:UnspecifiedMatching +OMIM:605704 VAPB skos:exactMatch hgnc.symbol:12649 semapv:UnspecifiedMatching +OMIM:605704 VAPB skos:exactMatch hgnc.symbol:VAPB semapv:UnspecifiedMatching +OMIM:605704 VAPB skos:exactMatch ncbigene:9217 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch UMLS:C1420279 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:11142 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:SIK1 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch ncbigene:150094 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch UMLS:C0406733 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch UMLS:C1538842 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:496 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:RIPK4 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch ncbigene:54101 semapv:UnspecifiedMatching +OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:14580 semapv:UnspecifiedMatching +OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:ARHGEF11 semapv:UnspecifiedMatching +OMIM:605708 ARHGEF11 skos:exactMatch ncbigene:9826 semapv:UnspecifiedMatching +OMIM:605709 ARL6IP5 skos:exactMatch UMLS:C1538931 semapv:UnspecifiedMatching +OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:16937 semapv:UnspecifiedMatching +OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:ARL6IP5 semapv:UnspecifiedMatching +OMIM:605709 ARL6IP5 skos:exactMatch ncbigene:10550 semapv:UnspecifiedMatching +OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:4245 semapv:UnspecifiedMatching +OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:GFRA3 semapv:UnspecifiedMatching +OMIM:605710 GFRA3 skos:exactMatch ncbigene:2676 semapv:UnspecifiedMatching +OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch MONDO:0011582 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch UMLS:C1420390 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5231533 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:11277 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:SPTLC1 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch ncbigene:10558 semapv:UnspecifiedMatching +OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:11278 semapv:UnspecifiedMatching +OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:SPTLC2 semapv:UnspecifiedMatching +OMIM:605713 SPTLC2 skos:exactMatch ncbigene:9517 semapv:UnspecifiedMatching +OMIM:605714 cerebral amyloid angiopathy, app-related skos:exactMatch MONDO:0011583 semapv:UnspecifiedMatching +OMIM:605715 CD276 skos:exactMatch hgnc.symbol:19137 semapv:UnspecifiedMatching +OMIM:605715 CD276 skos:exactMatch hgnc.symbol:CD276 semapv:UnspecifiedMatching +OMIM:605715 CD276 skos:exactMatch ncbigene:80381 semapv:UnspecifiedMatching +OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:6254 semapv:UnspecifiedMatching +OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:KCNH5 semapv:UnspecifiedMatching +OMIM:605716 KCNH5 skos:exactMatch ncbigene:27133 semapv:UnspecifiedMatching +OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:17087 semapv:UnspecifiedMatching +OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:ICOSLG semapv:UnspecifiedMatching +OMIM:605717 ICOSLG skos:exactMatch ncbigene:23308 semapv:UnspecifiedMatching +OMIM:605718 MED4 skos:exactMatch hgnc.symbol:17903 semapv:UnspecifiedMatching +OMIM:605718 MED4 skos:exactMatch hgnc.symbol:MED4 semapv:UnspecifiedMatching +OMIM:605718 MED4 skos:exactMatch ncbigene:29079 semapv:UnspecifiedMatching +OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:12749 semapv:UnspecifiedMatching +OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:LAT2 semapv:UnspecifiedMatching +OMIM:605719 LAT2 skos:exactMatch ncbigene:7462 semapv:UnspecifiedMatching +OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:6279 semapv:UnspecifiedMatching +OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:KCNK4 semapv:UnspecifiedMatching +OMIM:605720 KCNK4 skos:exactMatch ncbigene:50801 semapv:UnspecifiedMatching +OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:14685 semapv:UnspecifiedMatching +OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:F11R semapv:UnspecifiedMatching +OMIM:605721 JAM1 skos:exactMatch ncbigene:50848 semapv:UnspecifiedMatching +OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:6262 semapv:UnspecifiedMatching +OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:KCNJ16 semapv:UnspecifiedMatching +OMIM:605722 KCNJ16 skos:exactMatch ncbigene:3773 semapv:UnspecifiedMatching +OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:18731 semapv:UnspecifiedMatching +OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:PDCD1LG2 semapv:UnspecifiedMatching +OMIM:605723 PDCD1LG2 skos:exactMatch ncbigene:80380 semapv:UnspecifiedMatching +OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch MONDO:0011584 semapv:UnspecifiedMatching +OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch Orphanet:319462 semapv:UnspecifiedMatching +OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching +OMIM:605725 PRX skos:exactMatch hgnc.symbol:13797 semapv:UnspecifiedMatching +OMIM:605725 PRX skos:exactMatch hgnc.symbol:PRX semapv:UnspecifiedMatching +OMIM:605725 PRX skos:exactMatch ncbigene:57716 semapv:UnspecifiedMatching +OMIM:605726 neuronopathy, distal hereditary motor, autosomal recessive 2 skos:exactMatch MONDO:0011585 semapv:UnspecifiedMatching +OMIM:605727 otosclerosis 2 skos:exactMatch MONDO:0011586 semapv:UnspecifiedMatching +OMIM:605728 cataract 25 skos:exactMatch MONDO:0011587 semapv:UnspecifiedMatching +OMIM:605729 AKNA skos:exactMatch hgnc.symbol:24108 semapv:UnspecifiedMatching +OMIM:605729 AKNA skos:exactMatch hgnc.symbol:AKNA semapv:UnspecifiedMatching +OMIM:605729 AKNA skos:exactMatch ncbigene:80709 semapv:UnspecifiedMatching +OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:11215 semapv:UnspecifiedMatching +OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:SPAG6 semapv:UnspecifiedMatching +OMIM:605730 SPAG6 skos:exactMatch ncbigene:9576 semapv:UnspecifiedMatching +OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:14105 semapv:UnspecifiedMatching +OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:SPAG8 semapv:UnspecifiedMatching +OMIM:605731 SPAG8 skos:exactMatch ncbigene:26206 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C1422006 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:13469 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:TNFRSF21 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch ncbigene:27242 semapv:UnspecifiedMatching +OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:30255 semapv:UnspecifiedMatching +OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:PRELID1 semapv:UnspecifiedMatching +OMIM:605733 PRELID1 skos:exactMatch ncbigene:27166 semapv:UnspecifiedMatching +OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:11867 semapv:UnspecifiedMatching +OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:TMEFF2 semapv:UnspecifiedMatching +OMIM:605734 TMEFF2 skos:exactMatch ncbigene:23671 semapv:UnspecifiedMatching +OMIM:605735 bleeding disorder, platelet-type, 12 skos:exactMatch MONDO:0011588 semapv:UnspecifiedMatching +OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:12462 semapv:UnspecifiedMatching +OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:UBASH3A semapv:UnspecifiedMatching +OMIM:605736 UBASH3A skos:exactMatch ncbigene:53347 semapv:UnspecifiedMatching +OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:13702 semapv:UnspecifiedMatching +OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:BIRC7 semapv:UnspecifiedMatching +OMIM:605737 BIRC7 skos:exactMatch ncbigene:79444 semapv:UnspecifiedMatching +OMIM:605738 microphthalmia, isolated, with coloboma 2 skos:exactMatch MONDO:0011589 semapv:UnspecifiedMatching +OMIM:605739 KY skos:exactMatch hgnc.symbol:26576 semapv:UnspecifiedMatching +OMIM:605739 KY skos:exactMatch hgnc.symbol:KY semapv:UnspecifiedMatching +OMIM:605739 KY skos:exactMatch ncbigene:339855 semapv:UnspecifiedMatching +OMIM:605740 SOST skos:exactMatch hgnc.symbol:13771 semapv:UnspecifiedMatching +OMIM:605740 SOST skos:exactMatch hgnc.symbol:SOST semapv:UnspecifiedMatching +OMIM:605740 SOST skos:exactMatch ncbigene:50964 semapv:UnspecifiedMatching +OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:3128 semapv:UnspecifiedMatching +OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:GPR183 semapv:UnspecifiedMatching +OMIM:605741 GPR183 skos:exactMatch ncbigene:1880 semapv:UnspecifiedMatching +OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:12410 semapv:UnspecifiedMatching +OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:TUBA8 semapv:UnspecifiedMatching +OMIM:605742 TUBA8 skos:exactMatch ncbigene:51807 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch UMLS:C1539668 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch hgnc.symbol:18270 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch hgnc.symbol:HHAT semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch ncbigene:55733 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch UMLS:C1367595 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch UMLS:C4479452 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:3518 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:EXTL3 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch ncbigene:2137 semapv:UnspecifiedMatching +OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:20797 semapv:UnspecifiedMatching +OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:CYBRD1 semapv:UnspecifiedMatching +OMIM:605745 CYBRD1 skos:exactMatch ncbigene:79901 semapv:UnspecifiedMatching +OMIM:605746 anisomastia skos:exactMatch MONDO:0011590 semapv:UnspecifiedMatching +OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:18640 semapv:UnspecifiedMatching +OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:LDLRAP1 semapv:UnspecifiedMatching +OMIM:605747 LDLRAP1 skos:exactMatch ncbigene:26119 semapv:UnspecifiedMatching +OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:13815 semapv:UnspecifiedMatching +OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:BCO1 semapv:UnspecifiedMatching +OMIM:605748 BCO1 skos:exactMatch ncbigene:53630 semapv:UnspecifiedMatching +OMIM:605749 cataract 26, multiple types skos:exactMatch MONDO:0011591 semapv:UnspecifiedMatching +OMIM:605750 exudative vitreoretinopathy 3 skos:exactMatch MONDO:0011592 semapv:UnspecifiedMatching +OMIM:605751 seizures, benign familial infantile, 2 skos:exactMatch MONDO:0011593 semapv:UnspecifiedMatching +OMIM:605752 HID1 skos:exactMatch hgnc.symbol:15736 semapv:UnspecifiedMatching +OMIM:605752 HID1 skos:exactMatch hgnc.symbol:HID1 semapv:UnspecifiedMatching +OMIM:605752 HID1 skos:exactMatch ncbigene:283987 semapv:UnspecifiedMatching +OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:11245 semapv:UnspecifiedMatching +OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:SPINK2 semapv:UnspecifiedMatching +OMIM:605753 SPINK2 skos:exactMatch ncbigene:6691 semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch UMLS:C1422429 semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:14135 semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:PIGQ semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch ncbigene:9091 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch UMLS:C1425339 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch UMLS:C1857750 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch UMLS:C4015542 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch UMLS:C4479344 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:18141 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:DCDC2 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch ncbigene:51473 semapv:UnspecifiedMatching +OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch MONDO:0011594 semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch UMLS:C1418455 semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch hgnc.symbol:8829 semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch hgnc.symbol:PELO semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch ncbigene:53918 semapv:UnspecifiedMatching +OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:16011 semapv:UnspecifiedMatching +OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:ASB1 semapv:UnspecifiedMatching +OMIM:605758 ASB1 skos:exactMatch ncbigene:51665 semapv:UnspecifiedMatching +OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:16012 semapv:UnspecifiedMatching +OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:ASB2 semapv:UnspecifiedMatching +OMIM:605759 ASB2 skos:exactMatch ncbigene:51676 semapv:UnspecifiedMatching +OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:16013 semapv:UnspecifiedMatching +OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:ASB3 semapv:UnspecifiedMatching +OMIM:605760 ASB3 skos:exactMatch ncbigene:51130 semapv:UnspecifiedMatching +OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:16009 semapv:UnspecifiedMatching +OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:ASB4 semapv:UnspecifiedMatching +OMIM:605761 ASB4 skos:exactMatch ncbigene:51666 semapv:UnspecifiedMatching +OMIM:605762 MOK skos:exactMatch hgnc.symbol:9833 semapv:UnspecifiedMatching +OMIM:605762 MOK skos:exactMatch hgnc.symbol:MOK semapv:UnspecifiedMatching +OMIM:605762 MOK skos:exactMatch ncbigene:5891 semapv:UnspecifiedMatching +OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:17939 semapv:UnspecifiedMatching +OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:SLC45A1 semapv:UnspecifiedMatching +OMIM:605763 SLC45A1 skos:exactMatch ncbigene:50651 semapv:UnspecifiedMatching +OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:17768 semapv:UnspecifiedMatching +OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:TDP2 semapv:UnspecifiedMatching +OMIM:605764 TDP2 skos:exactMatch ncbigene:51567 semapv:UnspecifiedMatching +OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:13747 semapv:UnspecifiedMatching +OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:DLEU1 semapv:UnspecifiedMatching +OMIM:605765 DLEU1 skos:exactMatch ncbigene:10301 semapv:UnspecifiedMatching +OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:13748 semapv:UnspecifiedMatching +OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:DLEU2 semapv:UnspecifiedMatching +OMIM:605766 DLEU2 skos:exactMatch ncbigene:8847 semapv:UnspecifiedMatching +OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:30043 semapv:UnspecifiedMatching +OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:PAG1 semapv:UnspecifiedMatching +OMIM:605767 PAG1 skos:exactMatch ncbigene:55824 semapv:UnspecifiedMatching +OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:16500 semapv:UnspecifiedMatching +OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:DAPP1 semapv:UnspecifiedMatching +OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch ncbigene:27071 semapv:UnspecifiedMatching +OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:16290 semapv:UnspecifiedMatching +OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:TRIM33 semapv:UnspecifiedMatching +OMIM:605769 TRIM33 skos:exactMatch ncbigene:51592 semapv:UnspecifiedMatching +OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:6041 semapv:UnspecifiedMatching +OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:ILVBL semapv:UnspecifiedMatching +OMIM:605770 ILVBL skos:exactMatch ncbigene:10994 semapv:UnspecifiedMatching +OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:2289 semapv:UnspecifiedMatching +OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:COX7A2L semapv:UnspecifiedMatching +OMIM:605771 COX7A2L skos:exactMatch ncbigene:9167 semapv:UnspecifiedMatching +OMIM:605772 EBAG9 skos:exactMatch hgnc.symbol:3123 semapv:UnspecifiedMatching +OMIM:605772 EBAG9 skos:exactMatch hgnc.symbol:EBAG9 semapv:UnspecifiedMatching +OMIM:605772 EBAG9 skos:exactMatch ncbigene:9166 semapv:UnspecifiedMatching +OMIM:605773 LTB4R2 skos:exactMatch hgnc.symbol:19260 semapv:UnspecifiedMatching +OMIM:605773 LTB4R2 skos:exactMatch hgnc.symbol:LTB4R2 semapv:UnspecifiedMatching +OMIM:605773 LTB4R2 skos:exactMatch ncbigene:56413 semapv:UnspecifiedMatching +OMIM:605774 KLHL2 skos:exactMatch hgnc.symbol:6353 semapv:UnspecifiedMatching +OMIM:605774 KLHL2 skos:exactMatch hgnc.symbol:KLHL2 semapv:UnspecifiedMatching +OMIM:605774 KLHL2 skos:exactMatch ncbigene:11275 semapv:UnspecifiedMatching +OMIM:605775 KLHL3 skos:exactMatch hgnc.symbol:6354 semapv:UnspecifiedMatching +OMIM:605775 KLHL3 skos:exactMatch hgnc.symbol:KLHL3 semapv:UnspecifiedMatching +OMIM:605775 KLHL3 skos:exactMatch ncbigene:26249 semapv:UnspecifiedMatching +OMIM:605776 FGL1 skos:exactMatch hgnc.symbol:3695 semapv:UnspecifiedMatching +OMIM:605776 FGL1 skos:exactMatch hgnc.symbol:FGL1 semapv:UnspecifiedMatching +OMIM:605776 FGL1 skos:exactMatch ncbigene:2267 semapv:UnspecifiedMatching +OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:14240 semapv:UnspecifiedMatching +OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:SMPD3 semapv:UnspecifiedMatching +OMIM:605777 SMPD3 skos:exactMatch ncbigene:55512 semapv:UnspecifiedMatching +OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:13390 semapv:UnspecifiedMatching +OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:NIF3L1 semapv:UnspecifiedMatching +OMIM:605778 NIF3L1 skos:exactMatch ncbigene:60491 semapv:UnspecifiedMatching +OMIM:605779 nail disorder, nonsyndromic congenital, 7 skos:exactMatch MONDO:0011595 semapv:UnspecifiedMatching +OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:9348 semapv:UnspecifiedMatching +OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:PRDM4 semapv:UnspecifiedMatching +OMIM:605780 PRDM4 skos:exactMatch ncbigene:11108 semapv:UnspecifiedMatching +OMIM:605781 RHOD skos:exactMatch hgnc.symbol:670 semapv:UnspecifiedMatching +OMIM:605781 RHOD skos:exactMatch hgnc.symbol:RHOD semapv:UnspecifiedMatching +OMIM:605781 RHOD skos:exactMatch ncbigene:29984 semapv:UnspecifiedMatching +OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:3301 semapv:UnspecifiedMatching +OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:EIF5A2 semapv:UnspecifiedMatching +OMIM:605782 EIF5A2 skos:exactMatch ncbigene:56648 semapv:UnspecifiedMatching +OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:975 semapv:UnspecifiedMatching +OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:BCAS2 semapv:UnspecifiedMatching +OMIM:605783 BCAS2 skos:exactMatch ncbigene:10286 semapv:UnspecifiedMatching +OMIM:605784 TTYH1 skos:exactMatch hgnc.symbol:13476 semapv:UnspecifiedMatching +OMIM:605784 TTYH1 skos:exactMatch hgnc.symbol:TTYH1 semapv:UnspecifiedMatching +OMIM:605784 TTYH1 skos:exactMatch ncbigene:57348 semapv:UnspecifiedMatching +OMIM:605785 TUBG2 skos:exactMatch hgnc.symbol:12419 semapv:UnspecifiedMatching +OMIM:605785 TUBG2 skos:exactMatch hgnc.symbol:TUBG2 semapv:UnspecifiedMatching +OMIM:605785 TUBG2 skos:exactMatch ncbigene:27175 semapv:UnspecifiedMatching +OMIM:605786 RBMS3 skos:exactMatch hgnc.symbol:13427 semapv:UnspecifiedMatching +OMIM:605786 RBMS3 skos:exactMatch hgnc.symbol:RBMS3 semapv:UnspecifiedMatching +OMIM:605786 RBMS3 skos:exactMatch ncbigene:27303 semapv:UnspecifiedMatching +OMIM:605787 ANKRA2 skos:exactMatch UMLS:C1421879 semapv:UnspecifiedMatching +OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:13208 semapv:UnspecifiedMatching +OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:ANKRA2 semapv:UnspecifiedMatching +OMIM:605787 ANKRA2 skos:exactMatch ncbigene:57763 semapv:UnspecifiedMatching +OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:6892 semapv:UnspecifiedMatching +OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:MAPRE3 semapv:UnspecifiedMatching +OMIM:605788 MAPRE3 skos:exactMatch ncbigene:22924 semapv:UnspecifiedMatching +OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:6891 semapv:UnspecifiedMatching +OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:MAPRE2 semapv:UnspecifiedMatching +OMIM:605789 MAPRE2 skos:exactMatch ncbigene:10982 semapv:UnspecifiedMatching +OMIM:605790 STK31 skos:exactMatch hgnc.symbol:11407 semapv:UnspecifiedMatching +OMIM:605790 STK31 skos:exactMatch hgnc.symbol:STK31 semapv:UnspecifiedMatching +OMIM:605790 STK31 skos:exactMatch ncbigene:56164 semapv:UnspecifiedMatching +OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:11734 semapv:UnspecifiedMatching +OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:TEX12 semapv:UnspecifiedMatching +OMIM:605791 TEX12 skos:exactMatch ncbigene:56158 semapv:UnspecifiedMatching +OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:11737 semapv:UnspecifiedMatching +OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:TEX14 semapv:UnspecifiedMatching +OMIM:605792 TEX14 skos:exactMatch ncbigene:56155 semapv:UnspecifiedMatching +OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:10060 semapv:UnspecifiedMatching +OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:RNF17 semapv:UnspecifiedMatching +OMIM:605793 RNF17 skos:exactMatch ncbigene:56163 semapv:UnspecifiedMatching +OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:7201 semapv:UnspecifiedMatching +OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:MOV10L1 semapv:UnspecifiedMatching +OMIM:605794 MOV10L1 skos:exactMatch ncbigene:54456 semapv:UnspecifiedMatching +OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:11738 semapv:UnspecifiedMatching +OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:TEX15 semapv:UnspecifiedMatching +OMIM:605795 TEX15 skos:exactMatch ncbigene:56154 semapv:UnspecifiedMatching +OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:11712 semapv:UnspecifiedMatching +OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:TDRD1 semapv:UnspecifiedMatching +OMIM:605796 TDRD1 skos:exactMatch ncbigene:56165 semapv:UnspecifiedMatching +OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:1350 semapv:UnspecifiedMatching +OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:ASZ1 semapv:UnspecifiedMatching +OMIM:605797 ASZ1 skos:exactMatch ncbigene:136991 semapv:UnspecifiedMatching +OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:7899 semapv:UnspecifiedMatching +OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:NPDC1 semapv:UnspecifiedMatching +OMIM:605798 NPDC1 skos:exactMatch ncbigene:56654 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch UMLS:C1422785 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch hgnc.symbol:14604 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch hgnc.symbol:AMN semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch ncbigene:81693 semapv:UnspecifiedMatching +OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:17011 semapv:UnspecifiedMatching +OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:HNRNPUL1 semapv:UnspecifiedMatching +OMIM:605800 HNRNPUL1 skos:exactMatch ncbigene:11100 semapv:UnspecifiedMatching +OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:9841 semapv:UnspecifiedMatching +OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:RALBP1 semapv:UnspecifiedMatching +OMIM:605801 RALBP1 skos:exactMatch ncbigene:10928 semapv:UnspecifiedMatching +OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:14881 semapv:UnspecifiedMatching +OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:ZEB2 semapv:UnspecifiedMatching +OMIM:605802 ZEB2 skos:exactMatch ncbigene:9839 semapv:UnspecifiedMatching +OMIM:605803 dermatitis, atopic, 2 skos:exactMatch MONDO:0011596 semapv:UnspecifiedMatching +OMIM:605804 dermatitis, atopic, 3 skos:exactMatch MONDO:0011597 semapv:UnspecifiedMatching +OMIM:605805 dermatitis, atopic, 4 skos:exactMatch MONDO:0011598 semapv:UnspecifiedMatching +OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:1766 semapv:UnspecifiedMatching +OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:CDH7 semapv:UnspecifiedMatching +OMIM:605806 CDH7 skos:exactMatch ncbigene:1005 semapv:UnspecifiedMatching +OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:1760 semapv:UnspecifiedMatching +OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:CDH20 semapv:UnspecifiedMatching +OMIM:605807 CDH20 skos:exactMatch ncbigene:28316 semapv:UnspecifiedMatching +OMIM:605808 birdshot chorioretinopathy skos:exactMatch MONDO:0011599 semapv:UnspecifiedMatching +OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel skos:exactMatch MONDO:0011600 semapv:UnspecifiedMatching +OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:14508 semapv:UnspecifiedMatching +OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:MRPS22 semapv:UnspecifiedMatching +OMIM:605810 MRPS22 skos:exactMatch ncbigene:56945 semapv:UnspecifiedMatching +OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:15913 semapv:UnspecifiedMatching +OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:NXT1 semapv:UnspecifiedMatching +OMIM:605811 NXT1 skos:exactMatch ncbigene:29107 semapv:UnspecifiedMatching +OMIM:605812 DDX19B skos:exactMatch UMLS:C1824903 semapv:UnspecifiedMatching +OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:2742 semapv:UnspecifiedMatching +OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:DDX19B semapv:UnspecifiedMatching +OMIM:605812 DDX19B skos:exactMatch ncbigene:11269 semapv:UnspecifiedMatching +OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:13722 semapv:UnspecifiedMatching +OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:NUTF2 semapv:UnspecifiedMatching +OMIM:605813 NUTF2 skos:exactMatch ncbigene:10204 semapv:UnspecifiedMatching +OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch MONDO:0011601 semapv:UnspecifiedMatching +OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching +OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch UMLS:C1853942 semapv:UnspecifiedMatching +OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:8066 semapv:UnspecifiedMatching +OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:NUP62 semapv:UnspecifiedMatching +OMIM:605815 NUP62 skos:exactMatch ncbigene:23636 semapv:UnspecifiedMatching +OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:3129 semapv:UnspecifiedMatching +OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:EBI3 semapv:UnspecifiedMatching +OMIM:605816 EBI3 skos:exactMatch ncbigene:10148 semapv:UnspecifiedMatching +OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:10021 semapv:UnspecifiedMatching +OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:RIPK3 semapv:UnspecifiedMatching +OMIM:605817 RIPK3 skos:exactMatch ncbigene:11035 semapv:UnspecifiedMatching +OMIM:605818 deafness, autosomal recessive 27 skos:exactMatch MONDO:0011602 semapv:UnspecifiedMatching +OMIM:605819 PES1 skos:exactMatch hgnc.symbol:8848 semapv:UnspecifiedMatching +OMIM:605819 PES1 skos:exactMatch hgnc.symbol:PES1 semapv:UnspecifiedMatching +OMIM:605819 PES1 skos:exactMatch ncbigene:23481 semapv:UnspecifiedMatching +OMIM:605820 nonaka myopathy skos:exactMatch MONDO:0011603 semapv:UnspecifiedMatching +OMIM:605821 AHSP skos:exactMatch hgnc.symbol:18075 semapv:UnspecifiedMatching +OMIM:605821 AHSP skos:exactMatch hgnc.symbol:AHSP semapv:UnspecifiedMatching +OMIM:605821 AHSP skos:exactMatch ncbigene:51327 semapv:UnspecifiedMatching +OMIM:605822 spondyloocular syndrome skos:exactMatch MONDO:0011604 semapv:UnspecifiedMatching +OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:17648 semapv:UnspecifiedMatching +OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:POPDC2 semapv:UnspecifiedMatching +OMIM:605823 POPDC2 skos:exactMatch ncbigene:64091 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch UMLS:C1425025 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:17649 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:POPDC3 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch ncbigene:64208 semapv:UnspecifiedMatching +OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:15716 semapv:UnspecifiedMatching +OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:HEBP2 semapv:UnspecifiedMatching +OMIM:605825 HEBP2 skos:exactMatch ncbigene:23593 semapv:UnspecifiedMatching +OMIM:605826 HEBP1 skos:exactMatch UMLS:C1424798 semapv:UnspecifiedMatching +OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:17176 semapv:UnspecifiedMatching +OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:HEBP1 semapv:UnspecifiedMatching +OMIM:605826 HEBP1 skos:exactMatch ncbigene:50865 semapv:UnspecifiedMatching +OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant skos:exactMatch MONDO:0011605 semapv:UnspecifiedMatching +OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:18021 semapv:UnspecifiedMatching +OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:TMC6 semapv:UnspecifiedMatching +OMIM:605828 TMC6 skos:exactMatch ncbigene:11322 semapv:UnspecifiedMatching +OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:20474 semapv:UnspecifiedMatching +OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:TMC8 semapv:UnspecifiedMatching +OMIM:605829 TMC8 skos:exactMatch ncbigene:147138 semapv:UnspecifiedMatching +OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:3693 semapv:UnspecifiedMatching +OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:FGFRL1 semapv:UnspecifiedMatching +OMIM:605830 FGFRL1 skos:exactMatch ncbigene:53834 semapv:UnspecifiedMatching +OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:3679 semapv:UnspecifiedMatching +OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:FGF22 semapv:UnspecifiedMatching +OMIM:605831 FGF22 skos:exactMatch ncbigene:27006 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch UMLS:C1825842 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:15814 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:ACSS2 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch ncbigene:55902 semapv:UnspecifiedMatching +OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:11874 semapv:UnspecifiedMatching +OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:TMOD4 semapv:UnspecifiedMatching +OMIM:605834 TMOD4 skos:exactMatch ncbigene:29765 semapv:UnspecifiedMatching +OMIM:605835 CEMIP2 skos:exactMatch hgnc.symbol:11869 semapv:UnspecifiedMatching +OMIM:605835 CEMIP2 skos:exactMatch hgnc.symbol:CEMIP2 semapv:UnspecifiedMatching +OMIM:605835 CEMIP2 skos:exactMatch ncbigene:23670 semapv:UnspecifiedMatching +OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:12566 semapv:UnspecifiedMatching +OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:UNC13B semapv:UnspecifiedMatching +OMIM:605836 UNC13B skos:exactMatch ncbigene:10497 semapv:UnspecifiedMatching +OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:4868 semapv:UnspecifiedMatching +OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:HERC2 semapv:UnspecifiedMatching +OMIM:605837 HERC2 skos:exactMatch ncbigene:8924 semapv:UnspecifiedMatching +OMIM:605838 baby rattle pelvis dysplasia skos:exactMatch MONDO:0011606 semapv:UnspecifiedMatching +OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:17384 semapv:UnspecifiedMatching +OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:RNF111 semapv:UnspecifiedMatching +OMIM:605840 RNF111 skos:exactMatch ncbigene:54778 semapv:UnspecifiedMatching +OMIM:605841 narcolepsy 2, susceptibility to skos:exactMatch MONDO:0011607 semapv:UnspecifiedMatching +OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:11586 semapv:UnspecifiedMatching +OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:TBL2 semapv:UnspecifiedMatching +OMIM:605842 TBL2 skos:exactMatch ncbigene:26608 semapv:UnspecifiedMatching +OMIM:605843 PECR skos:exactMatch hgnc.symbol:18281 semapv:UnspecifiedMatching +OMIM:605843 PECR skos:exactMatch hgnc.symbol:PECR semapv:UnspecifiedMatching +OMIM:605843 PECR skos:exactMatch ncbigene:55825 semapv:UnspecifiedMatching +OMIM:605844 dermatitis, atopic, 5 skos:exactMatch MONDO:0011608 semapv:UnspecifiedMatching +OMIM:605845 dermatitis, atopic, 6 skos:exactMatch MONDO:0011609 semapv:UnspecifiedMatching +OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:1005 semapv:UnspecifiedMatching +OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:BCL7B semapv:UnspecifiedMatching +OMIM:605846 BCL7B skos:exactMatch ncbigene:9275 semapv:UnspecifiedMatching +OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:1006 semapv:UnspecifiedMatching +OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:BCL7C semapv:UnspecifiedMatching +OMIM:605847 BCL7C skos:exactMatch ncbigene:9274 semapv:UnspecifiedMatching +OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:1502 semapv:UnspecifiedMatching +OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:CASP14 semapv:UnspecifiedMatching +OMIM:605848 CASP14 skos:exactMatch ncbigene:23581 semapv:UnspecifiedMatching +OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:24475 semapv:UnspecifiedMatching +OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:DMGDH semapv:UnspecifiedMatching +OMIM:605849 DMGDH skos:exactMatch ncbigene:29958 semapv:UnspecifiedMatching +OMIM:605850 dimethylglycine dehydrogenase deficiency skos:exactMatch MONDO:0011610 semapv:UnspecifiedMatching +OMIM:605851 ICMT skos:exactMatch hgnc.symbol:5350 semapv:UnspecifiedMatching +OMIM:605851 ICMT skos:exactMatch hgnc.symbol:ICMT semapv:UnspecifiedMatching +OMIM:605851 ICMT skos:exactMatch ncbigene:23463 semapv:UnspecifiedMatching +OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:17088 semapv:UnspecifiedMatching +OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:CLASP1 semapv:UnspecifiedMatching +OMIM:605852 CLASP1 skos:exactMatch ncbigene:23332 semapv:UnspecifiedMatching +OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:17078 semapv:UnspecifiedMatching +OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:CLASP2 semapv:UnspecifiedMatching +OMIM:605853 CLASP2 skos:exactMatch ncbigene:23122 semapv:UnspecifiedMatching +OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:17868 semapv:UnspecifiedMatching +OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:BBC3 semapv:UnspecifiedMatching +OMIM:605854 BBC3 skos:exactMatch ncbigene:27113 semapv:UnspecifiedMatching +OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:13542 semapv:UnspecifiedMatching +OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:ATP10A semapv:UnspecifiedMatching +OMIM:605855 ATP10A skos:exactMatch ncbigene:57194 semapv:UnspecifiedMatching +OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch MONDO:0011611 semapv:UnspecifiedMatching +OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:17736 semapv:UnspecifiedMatching +OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:RHOQ semapv:UnspecifiedMatching +OMIM:605857 RHOQ skos:exactMatch ncbigene:23433 semapv:UnspecifiedMatching +OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:15950 semapv:UnspecifiedMatching +OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:SCRT1 semapv:UnspecifiedMatching +OMIM:605858 SCRT1 skos:exactMatch ncbigene:83482 semapv:UnspecifiedMatching +OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:16763 semapv:UnspecifiedMatching +OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:ZBTB32 semapv:UnspecifiedMatching +OMIM:605859 ZBTB32 skos:exactMatch ncbigene:27033 semapv:UnspecifiedMatching +OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:3042 semapv:UnspecifiedMatching +OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:RCAN3 semapv:UnspecifiedMatching +OMIM:605860 RCAN3 skos:exactMatch ncbigene:11123 semapv:UnspecifiedMatching +OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:13529 semapv:UnspecifiedMatching +OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:CNPY2 semapv:UnspecifiedMatching +OMIM:605861 CNPY2 skos:exactMatch ncbigene:10330 semapv:UnspecifiedMatching +OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:13530 semapv:UnspecifiedMatching +OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:RXYLT1 semapv:UnspecifiedMatching +OMIM:605862 RXYLT1 skos:exactMatch ncbigene:10329 semapv:UnspecifiedMatching +OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:13528 semapv:UnspecifiedMatching +OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:B3GNT3 semapv:UnspecifiedMatching +OMIM:605863 B3GNT3 skos:exactMatch ncbigene:10331 semapv:UnspecifiedMatching +OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:15683 semapv:UnspecifiedMatching +OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:B3GNT4 semapv:UnspecifiedMatching +OMIM:605864 B3GNT4 skos:exactMatch ncbigene:79369 semapv:UnspecifiedMatching +OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:15661 semapv:UnspecifiedMatching +OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:TAS1R3 semapv:UnspecifiedMatching +OMIM:605865 TAS1R3 skos:exactMatch ncbigene:83756 semapv:UnspecifiedMatching +OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:13535 semapv:UnspecifiedMatching +OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:ATP8B3 semapv:UnspecifiedMatching +OMIM:605866 ATP8B3 skos:exactMatch ncbigene:148229 semapv:UnspecifiedMatching +OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:13534 semapv:UnspecifiedMatching +OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:ATP8B2 semapv:UnspecifiedMatching +OMIM:605867 ATP8B2 skos:exactMatch ncbigene:57198 semapv:UnspecifiedMatching +OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:13552 semapv:UnspecifiedMatching +OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:ATP11A semapv:UnspecifiedMatching +OMIM:605868 ATP11A skos:exactMatch ncbigene:23250 semapv:UnspecifiedMatching +OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:13553 semapv:UnspecifiedMatching +OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:ATP11B semapv:UnspecifiedMatching +OMIM:605869 ATP11B skos:exactMatch ncbigene:23200 semapv:UnspecifiedMatching +OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:13533 semapv:UnspecifiedMatching +OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:ATP8A2 semapv:UnspecifiedMatching +OMIM:605870 ATP8A2 skos:exactMatch ncbigene:51761 semapv:UnspecifiedMatching +OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:13523 semapv:UnspecifiedMatching +OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:CLEC4M semapv:UnspecifiedMatching +OMIM:605872 CLEC4M skos:exactMatch ncbigene:10332 semapv:UnspecifiedMatching +OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:6273 semapv:UnspecifiedMatching +OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:KCNK10 semapv:UnspecifiedMatching +OMIM:605873 KCNK10 skos:exactMatch ncbigene:54207 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch UMLS:C1416601 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:6283 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:KCNK9 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch ncbigene:51305 semapv:UnspecifiedMatching +OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:12733 semapv:UnspecifiedMatching +OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:WASF2 semapv:UnspecifiedMatching +OMIM:605875 WASF2 skos:exactMatch ncbigene:10163 semapv:UnspecifiedMatching +OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:18507 semapv:UnspecifiedMatching +OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:FCRL4 semapv:UnspecifiedMatching +OMIM:605876 FCRL4 skos:exactMatch ncbigene:83417 semapv:UnspecifiedMatching +OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:18508 semapv:UnspecifiedMatching +OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:FCRL5 semapv:UnspecifiedMatching +OMIM:605877 FCRL5 skos:exactMatch ncbigene:83416 semapv:UnspecifiedMatching +OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:18078 semapv:UnspecifiedMatching +OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:ZBTB7A semapv:UnspecifiedMatching +OMIM:605878 ZBTB7A skos:exactMatch ncbigene:51341 semapv:UnspecifiedMatching +OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:6291 semapv:UnspecifiedMatching +OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:KCNN2 semapv:UnspecifiedMatching +OMIM:605879 KCNN2 skos:exactMatch ncbigene:3781 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch UMLS:C1425003 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:17582 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:KAT6B semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch ncbigene:23522 semapv:UnspecifiedMatching +OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:20197 semapv:UnspecifiedMatching +OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:SLC35C1 semapv:UnspecifiedMatching +OMIM:605881 SLC35C1 skos:exactMatch ncbigene:55343 semapv:UnspecifiedMatching +OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:20473 semapv:UnspecifiedMatching +OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:BRIP1 semapv:UnspecifiedMatching +OMIM:605882 BRIP1 skos:exactMatch ncbigene:83990 semapv:UnspecifiedMatching +OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:14582 semapv:UnspecifiedMatching +OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:LAMP3 semapv:UnspecifiedMatching +OMIM:605883 LAMP3 skos:exactMatch ncbigene:27074 semapv:UnspecifiedMatching +OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:2941 semapv:UnspecifiedMatching +OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:DNAH10 semapv:UnspecifiedMatching +OMIM:605884 DNAH10 skos:exactMatch ncbigene:196385 semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch UMLS:C1419956 semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:10738 semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:SEMA6A semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch ncbigene:57556 semapv:UnspecifiedMatching +OMIM:605886 CR1L skos:exactMatch hgnc.symbol:2335 semapv:UnspecifiedMatching +OMIM:605886 CR1L skos:exactMatch hgnc.symbol:CR1L semapv:UnspecifiedMatching +OMIM:605886 CR1L skos:exactMatch ncbigene:1379 semapv:UnspecifiedMatching +OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:3242 semapv:UnspecifiedMatching +OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:EHD1 semapv:UnspecifiedMatching +OMIM:605888 EHD1 skos:exactMatch ncbigene:10938 semapv:UnspecifiedMatching +OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:20767 semapv:UnspecifiedMatching +OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:PDLIM3 semapv:UnspecifiedMatching +OMIM:605889 PDLIM3 skos:exactMatch ncbigene:27295 semapv:UnspecifiedMatching +OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:3243 semapv:UnspecifiedMatching +OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:EHD2 semapv:UnspecifiedMatching +OMIM:605890 EHD2 skos:exactMatch ncbigene:30846 semapv:UnspecifiedMatching +OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:3244 semapv:UnspecifiedMatching +OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:EHD3 semapv:UnspecifiedMatching +OMIM:605891 EHD3 skos:exactMatch ncbigene:30845 semapv:UnspecifiedMatching +OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:3245 semapv:UnspecifiedMatching +OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:EHD4 semapv:UnspecifiedMatching +OMIM:605892 EHD4 skos:exactMatch ncbigene:30844 semapv:UnspecifiedMatching +OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:1769 semapv:UnspecifiedMatching +OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:CDIPT semapv:UnspecifiedMatching +OMIM:605893 CDIPT skos:exactMatch ncbigene:10423 semapv:UnspecifiedMatching +OMIM:605894 EID1 skos:exactMatch hgnc.symbol:1191 semapv:UnspecifiedMatching +OMIM:605894 EID1 skos:exactMatch hgnc.symbol:EID1 semapv:UnspecifiedMatching +OMIM:605894 EID1 skos:exactMatch ncbigene:23741 semapv:UnspecifiedMatching +OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:3293 semapv:UnspecifiedMatching +OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:EIF4E2 semapv:UnspecifiedMatching +OMIM:605895 EIF4E2 skos:exactMatch ncbigene:9470 semapv:UnspecifiedMatching +OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:3147 semapv:UnspecifiedMatching +OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:ECEL1 semapv:UnspecifiedMatching +OMIM:605896 ECEL1 skos:exactMatch ncbigene:9427 semapv:UnspecifiedMatching +OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:15663 semapv:UnspecifiedMatching +OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:UGGT1 semapv:UnspecifiedMatching +OMIM:605897 UGGT1 skos:exactMatch ncbigene:56886 semapv:UnspecifiedMatching +OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:15664 semapv:UnspecifiedMatching +OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:UGGT2 semapv:UnspecifiedMatching +OMIM:605898 UGGT2 skos:exactMatch ncbigene:55757 semapv:UnspecifiedMatching +OMIM:605899 glycine encephalopathy 1 skos:exactMatch MONDO:0958179 semapv:UnspecifiedMatching +OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:2067 semapv:UnspecifiedMatching +OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:PDLIM1 semapv:UnspecifiedMatching +OMIM:605900 PDLIM1 skos:exactMatch ncbigene:9124 semapv:UnspecifiedMatching +OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:17781 semapv:UnspecifiedMatching +OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:UCN3 semapv:UnspecifiedMatching +OMIM:605901 UCN3 skos:exactMatch ncbigene:114131 semapv:UnspecifiedMatching +OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:18414 semapv:UnspecifiedMatching +OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:UCN2 semapv:UnspecifiedMatching +OMIM:605902 UCN2 skos:exactMatch ncbigene:90226 semapv:UnspecifiedMatching +OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:22958 semapv:UnspecifiedMatching +OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:PDLIM7 semapv:UnspecifiedMatching +OMIM:605903 PDLIM7 skos:exactMatch ncbigene:9260 semapv:UnspecifiedMatching +OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:17468 semapv:UnspecifiedMatching +OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:PDLIM5 semapv:UnspecifiedMatching +OMIM:605904 PDLIM5 skos:exactMatch ncbigene:10611 semapv:UnspecifiedMatching +OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:18184 semapv:UnspecifiedMatching +OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:DCUN1D1 semapv:UnspecifiedMatching +OMIM:605905 DCUN1D1 skos:exactMatch ncbigene:54165 semapv:UnspecifiedMatching +OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:15710 semapv:UnspecifiedMatching +OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:LDB3 semapv:UnspecifiedMatching +OMIM:605906 LDB3 skos:exactMatch ncbigene:11155 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch UMLS:C1425428 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:18294 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:ALG1 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch ncbigene:56052 semapv:UnspecifiedMatching +OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:17082 semapv:UnspecifiedMatching +OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:MLC1 semapv:UnspecifiedMatching +OMIM:605908 MLC1 skos:exactMatch ncbigene:23209 semapv:UnspecifiedMatching +OMIM:605909 parkinson disease 6, autosomal recessive early-onset skos:exactMatch MONDO:0011613 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C1423931 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C4016952 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:16039 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:ANGPTL4 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch ncbigene:51129 semapv:UnspecifiedMatching +OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency skos:exactMatch MONDO:0011614 semapv:UnspecifiedMatching +OMIM:605912 MEPE skos:exactMatch hgnc.symbol:13361 semapv:UnspecifiedMatching +OMIM:605912 MEPE skos:exactMatch hgnc.symbol:MEPE semapv:UnspecifiedMatching +OMIM:605912 MEPE skos:exactMatch ncbigene:56955 semapv:UnspecifiedMatching +OMIM:605913 bleeding disorder, east texas iia skos:exactMatch MONDO:0011615 semapv:UnspecifiedMatching +OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:18152 semapv:UnspecifiedMatching +OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:TNFRSF12A semapv:UnspecifiedMatching +OMIM:605914 TNFRSF12A skos:exactMatch ncbigene:51330 semapv:UnspecifiedMatching +OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:11587 semapv:UnspecifiedMatching +OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:TBL3 semapv:UnspecifiedMatching +OMIM:605915 TBL3 skos:exactMatch ncbigene:10607 semapv:UnspecifiedMatching +OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:15680 semapv:UnspecifiedMatching +OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:SPTBN5 semapv:UnspecifiedMatching +OMIM:605916 SPTBN5 skos:exactMatch ncbigene:51332 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch UMLS:C1412939 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:1249 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:TPX2 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch ncbigene:22974 semapv:UnspecifiedMatching +OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:11253 semapv:UnspecifiedMatching +OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:SPON2 semapv:UnspecifiedMatching +OMIM:605918 SPON2 skos:exactMatch ncbigene:10417 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch UMLS:C1420457 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:11371 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:STAU2 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch ncbigene:27067 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch UMLS:C1335879 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch UMLS:C1861451 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch UMLS:C2748557 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch UMLS:C4011726 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:11386 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:STIM1 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch ncbigene:6786 semapv:UnspecifiedMatching +OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:6051 semapv:UnspecifiedMatching +OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:IMPA2 semapv:UnspecifiedMatching +OMIM:605922 IMPA2 skos:exactMatch ncbigene:3613 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch UMLS:C1420330 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:11203 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:SOX8 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch ncbigene:30812 semapv:UnspecifiedMatching +OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:12756 semapv:UnspecifiedMatching +OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:WDR4 semapv:UnspecifiedMatching +OMIM:605924 WDR4 skos:exactMatch ncbigene:10785 semapv:UnspecifiedMatching +OMIM:605925 PCNT skos:exactMatch hgnc.symbol:16068 semapv:UnspecifiedMatching +OMIM:605925 PCNT skos:exactMatch hgnc.symbol:PCNT semapv:UnspecifiedMatching +OMIM:605925 PCNT skos:exactMatch ncbigene:5116 semapv:UnspecifiedMatching +OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:9394 semapv:UnspecifiedMatching +OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:PICK1 semapv:UnspecifiedMatching +OMIM:605926 PICK1 skos:exactMatch ncbigene:9463 semapv:UnspecifiedMatching +OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:7417 semapv:UnspecifiedMatching +OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:MTBP semapv:UnspecifiedMatching +OMIM:605927 MDM2BP skos:exactMatch ncbigene:27085 semapv:UnspecifiedMatching +OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:21496 semapv:UnspecifiedMatching +OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:ARFIP1 semapv:UnspecifiedMatching +OMIM:605928 ARFIP1 skos:exactMatch ncbigene:27236 semapv:UnspecifiedMatching +OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:11173 semapv:UnspecifiedMatching +OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:SNX2 semapv:UnspecifiedMatching +OMIM:605929 SNX2 skos:exactMatch ncbigene:6643 semapv:UnspecifiedMatching +OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:11174 semapv:UnspecifiedMatching +OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:SNX3 semapv:UnspecifiedMatching +OMIM:605930 SNX3 skos:exactMatch ncbigene:8724 semapv:UnspecifiedMatching +OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:11175 semapv:UnspecifiedMatching +OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:SNX4 semapv:UnspecifiedMatching +OMIM:605931 SNX4 skos:exactMatch ncbigene:8723 semapv:UnspecifiedMatching +OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:1048 semapv:UnspecifiedMatching +OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:BHMT2 semapv:UnspecifiedMatching +OMIM:605932 BHMT2 skos:exactMatch ncbigene:23743 semapv:UnspecifiedMatching +OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:18549 semapv:UnspecifiedMatching +OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:DCSTAMP semapv:UnspecifiedMatching +OMIM:605933 DCSTAMP skos:exactMatch ncbigene:81501 semapv:UnspecifiedMatching +OMIM:605934 holoprosencephaly 6 skos:exactMatch MONDO:0011616 semapv:UnspecifiedMatching +OMIM:605935 arthropathy, erosive skos:exactMatch MONDO:0011617 semapv:UnspecifiedMatching +OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:1053 semapv:UnspecifiedMatching +OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:BIN2 semapv:UnspecifiedMatching +OMIM:605936 BIN2 skos:exactMatch ncbigene:51411 semapv:UnspecifiedMatching +OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:14969 semapv:UnspecifiedMatching +OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:SNX5 semapv:UnspecifiedMatching +OMIM:605937 SNX5 skos:exactMatch ncbigene:27131 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch UMLS:C1826586 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch hgnc.symbol:3046 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch hgnc.symbol:PIGP semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch ncbigene:51227 semapv:UnspecifiedMatching +OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:9062 semapv:UnspecifiedMatching +OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:PLCD4 semapv:UnspecifiedMatching +OMIM:605939 PLCD4 skos:exactMatch ncbigene:84812 semapv:UnspecifiedMatching +OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:957 semapv:UnspecifiedMatching +OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:BASP1 semapv:UnspecifiedMatching +OMIM:605940 BASP1 skos:exactMatch ncbigene:10409 semapv:UnspecifiedMatching +OMIM:605941 SART1 skos:exactMatch hgnc.symbol:10538 semapv:UnspecifiedMatching +OMIM:605941 SART1 skos:exactMatch hgnc.symbol:SART1 semapv:UnspecifiedMatching +OMIM:605941 SART1 skos:exactMatch ncbigene:9092 semapv:UnspecifiedMatching +OMIM:605942 DSE skos:exactMatch hgnc.symbol:21144 semapv:UnspecifiedMatching +OMIM:605942 DSE skos:exactMatch hgnc.symbol:DSE semapv:UnspecifiedMatching +OMIM:605942 DSE skos:exactMatch ncbigene:29940 semapv:UnspecifiedMatching +OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:29644 semapv:UnspecifiedMatching +OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:GDE1 semapv:UnspecifiedMatching +OMIM:605943 GDE1 skos:exactMatch ncbigene:51573 semapv:UnspecifiedMatching +OMIM:605944 liver fibrocystic disease and polydactyly skos:exactMatch MONDO:0011618 semapv:UnspecifiedMatching +OMIM:605945 crumpled helices and small mouth skos:exactMatch MONDO:0011619 semapv:UnspecifiedMatching +OMIM:605946 metaphyseal dysplasia, braun-tinschert iia skos:exactMatch MONDO:0011620 semapv:UnspecifiedMatching +OMIM:605947 PIGL skos:exactMatch hgnc.symbol:8966 semapv:UnspecifiedMatching +OMIM:605947 PIGL skos:exactMatch hgnc.symbol:PIGL semapv:UnspecifiedMatching +OMIM:605947 PIGL skos:exactMatch ncbigene:9487 semapv:UnspecifiedMatching +OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:13308 semapv:UnspecifiedMatching +OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:GPRC5B semapv:UnspecifiedMatching +OMIM:605948 GPRC5B skos:exactMatch ncbigene:51704 semapv:UnspecifiedMatching +OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:13309 semapv:UnspecifiedMatching +OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:GPRC5C semapv:UnspecifiedMatching +OMIM:605949 GPRC5C skos:exactMatch ncbigene:55890 semapv:UnspecifiedMatching +OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:16075 semapv:UnspecifiedMatching +OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:RAB33B semapv:UnspecifiedMatching +OMIM:605950 RAB33B skos:exactMatch ncbigene:83452 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch UMLS:C1414139 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:3007 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:DPM3 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch ncbigene:54344 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch UMLS:C1423100 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:14973 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:SNX9 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch ncbigene:51429 semapv:UnspecifiedMatching +OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:2720 semapv:UnspecifiedMatching +OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:ASAP1 semapv:UnspecifiedMatching +OMIM:605953 ASAP1 skos:exactMatch ncbigene:50807 semapv:UnspecifiedMatching +OMIM:605954 FETUB skos:exactMatch hgnc.symbol:3658 semapv:UnspecifiedMatching +OMIM:605954 FETUB skos:exactMatch hgnc.symbol:FETUB semapv:UnspecifiedMatching +OMIM:605954 FETUB skos:exactMatch ncbigene:26998 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch UMLS:C1426161 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch UMLS:C4479653 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:19321 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:NKX6-2 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch ncbigene:84504 semapv:UnspecifiedMatching +OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:5331 semapv:UnspecifiedMatching +OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:NOD2 semapv:UnspecifiedMatching +OMIM:605956 NOD2 skos:exactMatch ncbigene:64127 semapv:UnspecifiedMatching +OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:30764 semapv:UnspecifiedMatching +OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:TRAIP semapv:UnspecifiedMatching +OMIM:605958 TRAIP skos:exactMatch ncbigene:10293 semapv:UnspecifiedMatching +OMIM:605959 hr44 antigen skos:exactMatch UMLS:C1853813 semapv:UnspecifiedMatching +OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:9138 semapv:UnspecifiedMatching +OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:EXOSC10 semapv:UnspecifiedMatching +OMIM:605960 EXOSC10 skos:exactMatch ncbigene:5394 semapv:UnspecifiedMatching +OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:9089 semapv:UnspecifiedMatching +OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:PLRG1 semapv:UnspecifiedMatching +OMIM:605961 PLRG1 skos:exactMatch ncbigene:5356 semapv:UnspecifiedMatching +OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:16896 semapv:UnspecifiedMatching +OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:RABEPK semapv:UnspecifiedMatching +OMIM:605962 RABEPK skos:exactMatch ncbigene:10244 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch UMLS:C1423106 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:14979 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:SNX17 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch ncbigene:9784 semapv:UnspecifiedMatching +OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:14978 semapv:UnspecifiedMatching +OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:SNX15 semapv:UnspecifiedMatching +OMIM:605964 SNX15 skos:exactMatch ncbigene:29907 semapv:UnspecifiedMatching +OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:18749 semapv:UnspecifiedMatching +OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:RIN1 semapv:UnspecifiedMatching +OMIM:605965 RIN1 skos:exactMatch ncbigene:9610 semapv:UnspecifiedMatching +OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:5026 semapv:UnspecifiedMatching +OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:HNF4G semapv:UnspecifiedMatching +OMIM:605966 HNF4G skos:exactMatch ncbigene:3174 semapv:UnspecifiedMatching +OMIM:605967 acropectoral syndrome skos:exactMatch MONDO:0011621 semapv:UnspecifiedMatching +OMIM:605967 acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching +OMIM:605967 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching +OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:9977 semapv:UnspecifiedMatching +OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:RFPL1 semapv:UnspecifiedMatching +OMIM:605968 RFPL1 skos:exactMatch ncbigene:5988 semapv:UnspecifiedMatching +OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:9979 semapv:UnspecifiedMatching +OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:RFPL2 semapv:UnspecifiedMatching +OMIM:605969 RFPL2 skos:exactMatch ncbigene:10739 semapv:UnspecifiedMatching +OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:9980 semapv:UnspecifiedMatching +OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:RFPL3 semapv:UnspecifiedMatching +OMIM:605970 RFPL3 skos:exactMatch ncbigene:10738 semapv:UnspecifiedMatching +OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:9981 semapv:UnspecifiedMatching +OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:RFPL3S semapv:UnspecifiedMatching +OMIM:605971 RFPL3S skos:exactMatch ncbigene:10737 semapv:UnspecifiedMatching +OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:9978 semapv:UnspecifiedMatching +OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:RFPL1S semapv:UnspecifiedMatching +OMIM:605972 RFPL1S skos:exactMatch ncbigene:10740 semapv:UnspecifiedMatching +OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:30915 semapv:UnspecifiedMatching +OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:DCAF7 semapv:UnspecifiedMatching +OMIM:605973 DCAF7 skos:exactMatch ncbigene:10238 semapv:UnspecifiedMatching +OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:16939 semapv:UnspecifiedMatching +OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:SLU7 semapv:UnspecifiedMatching +OMIM:605974 SLU7 skos:exactMatch ncbigene:10569 semapv:UnspecifiedMatching +OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:16638 semapv:UnspecifiedMatching +OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:SRRM1 semapv:UnspecifiedMatching +OMIM:605975 SRRM1 skos:exactMatch ncbigene:10250 semapv:UnspecifiedMatching +OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:16764 semapv:UnspecifiedMatching +OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:ZBTB6 semapv:UnspecifiedMatching +OMIM:605976 ZBTB6 skos:exactMatch ncbigene:10773 semapv:UnspecifiedMatching +OMIM:605977 IMMP2L skos:exactMatch UMLS:C1422779 semapv:UnspecifiedMatching +OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:14598 semapv:UnspecifiedMatching +OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:IMMP2L semapv:UnspecifiedMatching +OMIM:605977 IMMP2L skos:exactMatch ncbigene:83943 semapv:UnspecifiedMatching +OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:1908 semapv:UnspecifiedMatching +OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:VPS13A semapv:UnspecifiedMatching +OMIM:605978 VPS13A skos:exactMatch ncbigene:23230 semapv:UnspecifiedMatching +OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:15484 semapv:UnspecifiedMatching +OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:SNAPC5 semapv:UnspecifiedMatching +OMIM:605979 SNAPC5 skos:exactMatch ncbigene:10302 semapv:UnspecifiedMatching +OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:16390 semapv:UnspecifiedMatching +OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:NOD1 semapv:UnspecifiedMatching +OMIM:605980 NOD1 skos:exactMatch ncbigene:10392 semapv:UnspecifiedMatching +OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:16808 semapv:UnspecifiedMatching +OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:UBR1 semapv:UnspecifiedMatching +OMIM:605981 UBR1 skos:exactMatch ncbigene:197131 semapv:UnspecifiedMatching +OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:9302 semapv:UnspecifiedMatching +OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:PPP2R1A semapv:UnspecifiedMatching +OMIM:605983 PPP2R1A skos:exactMatch ncbigene:5518 semapv:UnspecifiedMatching +OMIM:605984 EED skos:exactMatch hgnc.symbol:3188 semapv:UnspecifiedMatching +OMIM:605984 EED skos:exactMatch hgnc.symbol:EED semapv:UnspecifiedMatching +OMIM:605984 EED skos:exactMatch ncbigene:8726 semapv:UnspecifiedMatching +OMIM:605986 STRAP skos:exactMatch hgnc.symbol:30796 semapv:UnspecifiedMatching +OMIM:605986 STRAP skos:exactMatch hgnc.symbol:STRAP semapv:UnspecifiedMatching +OMIM:605986 STRAP skos:exactMatch ncbigene:11171 semapv:UnspecifiedMatching +OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:16861 semapv:UnspecifiedMatching +OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:PIAS3 semapv:UnspecifiedMatching +OMIM:605987 PIAS3 skos:exactMatch ncbigene:10401 semapv:UnspecifiedMatching +OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:17642 semapv:UnspecifiedMatching +OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:DCLRE1C semapv:UnspecifiedMatching +OMIM:605988 DCLRE1C skos:exactMatch ncbigene:64421 semapv:UnspecifiedMatching +OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:17002 semapv:UnspecifiedMatching +OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:PIAS4 semapv:UnspecifiedMatching +OMIM:605989 PIAS4 skos:exactMatch ncbigene:51588 semapv:UnspecifiedMatching +OMIM:605990 nephrolithiasis, uric acid, susceptibility to skos:exactMatch MONDO:0011622 semapv:UnspecifiedMatching +OMIM:605990 nephrolithiasis, uric acid, susceptibility to skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching +OMIM:605991 NGEF skos:exactMatch hgnc.symbol:7807 semapv:UnspecifiedMatching +OMIM:605991 NGEF skos:exactMatch hgnc.symbol:NGEF semapv:UnspecifiedMatching +OMIM:605991 NGEF skos:exactMatch ncbigene:25791 semapv:UnspecifiedMatching +OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:14216 semapv:UnspecifiedMatching +OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:LHX5 semapv:UnspecifiedMatching +OMIM:605992 LHX5 skos:exactMatch ncbigene:64211 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch UMLS:C1418818 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:9279 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:PDP1 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch ncbigene:54704 semapv:UnspecifiedMatching +OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:17449 semapv:UnspecifiedMatching +OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:CYP39A1 semapv:UnspecifiedMatching +OMIM:605994 CYP39A1 skos:exactMatch ncbigene:51302 semapv:UnspecifiedMatching +OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:16636 semapv:UnspecifiedMatching +OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:KIF1B semapv:UnspecifiedMatching +OMIM:605995 KIF1B skos:exactMatch ncbigene:23095 semapv:UnspecifiedMatching +OMIM:605996 DXO skos:exactMatch hgnc.symbol:2992 semapv:UnspecifiedMatching +OMIM:605996 DXO skos:exactMatch hgnc.symbol:DXO semapv:UnspecifiedMatching +OMIM:605996 DXO skos:exactMatch ncbigene:1797 semapv:UnspecifiedMatching +OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:9306 semapv:UnspecifiedMatching +OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:PPP2R2C semapv:UnspecifiedMatching +OMIM:605997 PPP2R2C skos:exactMatch ncbigene:5522 semapv:UnspecifiedMatching +OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:16915 semapv:UnspecifiedMatching +OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:HAX1 semapv:UnspecifiedMatching +OMIM:605998 HAX1 skos:exactMatch ncbigene:10456 semapv:UnspecifiedMatching +OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:16916 semapv:UnspecifiedMatching +OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:CLEC10A semapv:UnspecifiedMatching +OMIM:605999 CLEC10A skos:exactMatch ncbigene:10462 semapv:UnspecifiedMatching +OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:1142 semapv:UnspecifiedMatching +OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:BTNL2 semapv:UnspecifiedMatching +OMIM:606000 BTNL2 skos:exactMatch ncbigene:56244 semapv:UnspecifiedMatching +OMIM:606001 IL32 skos:exactMatch hgnc.symbol:16830 semapv:UnspecifiedMatching +OMIM:606001 IL32 skos:exactMatch hgnc.symbol:IL32 semapv:UnspecifiedMatching +OMIM:606001 IL32 skos:exactMatch ncbigene:9235 semapv:UnspecifiedMatching +OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch MONDO:0018996 semapv:UnspecifiedMatching +OMIM:606003 transaldolase deficiency skos:exactMatch MONDO:0011624 semapv:UnspecifiedMatching +OMIM:606003 transaldolase deficiency skos:exactMatch Orphanet:101028 semapv:UnspecifiedMatching +OMIM:606003 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching +OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:17842 semapv:UnspecifiedMatching +OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:GGA1 semapv:UnspecifiedMatching +OMIM:606004 GGA1 skos:exactMatch ncbigene:26088 semapv:UnspecifiedMatching +OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:16064 semapv:UnspecifiedMatching +OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:GGA2 semapv:UnspecifiedMatching +OMIM:606005 GGA2 skos:exactMatch ncbigene:23062 semapv:UnspecifiedMatching +OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:17079 semapv:UnspecifiedMatching +OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:GGA3 semapv:UnspecifiedMatching +OMIM:606006 GGA3 skos:exactMatch ncbigene:23163 semapv:UnspecifiedMatching +OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:14121 semapv:UnspecifiedMatching +OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:POLR3K semapv:UnspecifiedMatching +OMIM:606007 POLR3K skos:exactMatch ncbigene:51728 semapv:UnspecifiedMatching +OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:7830 semapv:UnspecifiedMatching +OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:NKG7 semapv:UnspecifiedMatching +OMIM:606008 NKG7 skos:exactMatch ncbigene:4818 semapv:UnspecifiedMatching +OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:50800 semapv:UnspecifiedMatching +OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:DUX4 semapv:UnspecifiedMatching +OMIM:606009 DUX4 skos:exactMatch ncbigene:100288687 semapv:UnspecifiedMatching +OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:7993 semapv:UnspecifiedMatching +OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:NRBP1 semapv:UnspecifiedMatching +OMIM:606010 NRBP1 skos:exactMatch ncbigene:29959 semapv:UnspecifiedMatching +OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:17149 semapv:UnspecifiedMatching +OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:VSIG2 semapv:UnspecifiedMatching +OMIM:606011 VSIG2 skos:exactMatch ncbigene:23584 semapv:UnspecifiedMatching +OMIM:606012 deafness, autosomal dominant 18 skos:exactMatch MONDO:0011625 semapv:UnspecifiedMatching +OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:13584 semapv:UnspecifiedMatching +OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:FBXO5 semapv:UnspecifiedMatching +OMIM:606013 FBXO5 skos:exactMatch ncbigene:26271 semapv:UnspecifiedMatching +OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:449 semapv:UnspecifiedMatching +OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:ALX3 semapv:UnspecifiedMatching +OMIM:606014 ALX3 skos:exactMatch ncbigene:257 semapv:UnspecifiedMatching +OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:14315 semapv:UnspecifiedMatching +OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:FCMR semapv:UnspecifiedMatching +OMIM:606015 FAIM3 skos:exactMatch ncbigene:9214 semapv:UnspecifiedMatching +OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:23177 semapv:UnspecifiedMatching +OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:KEAP1 semapv:UnspecifiedMatching +OMIM:606016 KEAP1 skos:exactMatch ncbigene:9817 semapv:UnspecifiedMatching +OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:9191 semapv:UnspecifiedMatching +OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:POLR2D semapv:UnspecifiedMatching +OMIM:606017 POLR2D skos:exactMatch ncbigene:5433 semapv:UnspecifiedMatching +OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:3173 semapv:UnspecifiedMatching +OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:EDIL3 semapv:UnspecifiedMatching +OMIM:606018 EDIL3 skos:exactMatch ncbigene:10085 semapv:UnspecifiedMatching +OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:17035 semapv:UnspecifiedMatching +OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:EXOSC8 semapv:UnspecifiedMatching +OMIM:606019 EXOSC8 skos:exactMatch ncbigene:11340 semapv:UnspecifiedMatching +OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:20300 semapv:UnspecifiedMatching +OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:OIP5 semapv:UnspecifiedMatching +OMIM:606020 OIP5 skos:exactMatch ncbigene:11339 semapv:UnspecifiedMatching +OMIM:606021 PRAME skos:exactMatch hgnc.symbol:9336 semapv:UnspecifiedMatching +OMIM:606021 PRAME skos:exactMatch hgnc.symbol:PRAME semapv:UnspecifiedMatching +OMIM:606021 PRAME skos:exactMatch ncbigene:23532 semapv:UnspecifiedMatching +OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:8056 semapv:UnspecifiedMatching +OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:NUDT9 semapv:UnspecifiedMatching +OMIM:606022 NUDT9 skos:exactMatch ncbigene:53343 semapv:UnspecifiedMatching +OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:9195 semapv:UnspecifiedMatching +OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:POLR2H semapv:UnspecifiedMatching +OMIM:606023 POLR2H skos:exactMatch ncbigene:5437 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch UMLS:C1538150 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:13503 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:ZBTB20 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch ncbigene:26137 semapv:UnspecifiedMatching +OMIM:606026 NELFA skos:exactMatch hgnc.symbol:12768 semapv:UnspecifiedMatching +OMIM:606026 NELFA skos:exactMatch hgnc.symbol:NELFA semapv:UnspecifiedMatching +OMIM:606026 NELFA skos:exactMatch ncbigene:7469 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch UMLS:C1413684 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:2324 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:CPSF1 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch ncbigene:29894 semapv:UnspecifiedMatching +OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:2325 semapv:UnspecifiedMatching +OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:CPSF2 semapv:UnspecifiedMatching +OMIM:606028 CPSF2 skos:exactMatch ncbigene:53981 semapv:UnspecifiedMatching +OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:2326 semapv:UnspecifiedMatching +OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:CPSF3 semapv:UnspecifiedMatching +OMIM:606029 CPSF3 skos:exactMatch ncbigene:51692 semapv:UnspecifiedMatching +OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:17157 semapv:UnspecifiedMatching +OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:EDC4 semapv:UnspecifiedMatching +OMIM:606030 EDC4 skos:exactMatch ncbigene:23644 semapv:UnspecifiedMatching +OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:12758 semapv:UnspecifiedMatching +OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:WDR6 semapv:UnspecifiedMatching +OMIM:606031 WDR6 skos:exactMatch ncbigene:11180 semapv:UnspecifiedMatching +OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:16639 semapv:UnspecifiedMatching +OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:SRRM2 semapv:UnspecifiedMatching +OMIM:606032 SRRM2 skos:exactMatch ncbigene:23524 semapv:UnspecifiedMatching +OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:9198 semapv:UnspecifiedMatching +OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:POLR2K semapv:UnspecifiedMatching +OMIM:606033 POLR2K skos:exactMatch ncbigene:5440 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1425573 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:18518 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:RNASEH2A semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch ncbigene:10535 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch UMLS:C1332115 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch UMLS:C4014708 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:16876 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:ARNT2 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch ncbigene:9915 semapv:UnspecifiedMatching +OMIM:606037 CD96 skos:exactMatch hgnc.symbol:16892 semapv:UnspecifiedMatching +OMIM:606037 CD96 skos:exactMatch hgnc.symbol:CD96 semapv:UnspecifiedMatching +OMIM:606037 CD96 skos:exactMatch ncbigene:10225 semapv:UnspecifiedMatching +OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:13935 semapv:UnspecifiedMatching +OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:LY6G6D semapv:UnspecifiedMatching +OMIM:606038 LY6G6D skos:exactMatch ncbigene:58530 semapv:UnspecifiedMatching +OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:16824 semapv:UnspecifiedMatching +OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:HCAR3 semapv:UnspecifiedMatching +OMIM:606039 HCAR3 skos:exactMatch ncbigene:8843 semapv:UnspecifiedMatching +OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:12759 semapv:UnspecifiedMatching +OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:WRAP73 semapv:UnspecifiedMatching +OMIM:606040 WDR8 skos:exactMatch ncbigene:49856 semapv:UnspecifiedMatching +OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:11220 semapv:UnspecifiedMatching +OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:SPARCL1 semapv:UnspecifiedMatching +OMIM:606041 SPARCL1 skos:exactMatch ncbigene:8404 semapv:UnspecifiedMatching +OMIM:606042 MYNN skos:exactMatch hgnc.symbol:14955 semapv:UnspecifiedMatching +OMIM:606042 MYNN skos:exactMatch hgnc.symbol:MYNN semapv:UnspecifiedMatching +OMIM:606042 MYNN skos:exactMatch ncbigene:55892 semapv:UnspecifiedMatching +OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:15489 semapv:UnspecifiedMatching +OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:ZNF331 semapv:UnspecifiedMatching +OMIM:606043 ZNF331 skos:exactMatch ncbigene:55422 semapv:UnspecifiedMatching +OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:11328 semapv:UnspecifiedMatching +OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:ZNRD2 semapv:UnspecifiedMatching +OMIM:606044 ZNRD2 skos:exactMatch ncbigene:10534 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch UMLS:C1825573 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:13556 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:IFT122 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch ncbigene:55764 semapv:UnspecifiedMatching +OMIM:606046 STX18 skos:exactMatch hgnc.symbol:15942 semapv:UnspecifiedMatching +OMIM:606046 STX18 skos:exactMatch hgnc.symbol:STX18 semapv:UnspecifiedMatching +OMIM:606046 STX18 skos:exactMatch ncbigene:53407 semapv:UnspecifiedMatching +OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:16309 semapv:UnspecifiedMatching +OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:LILRA5 semapv:UnspecifiedMatching +OMIM:606047 LILRA5 skos:exactMatch ncbigene:353514 semapv:UnspecifiedMatching +OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:15505 semapv:UnspecifiedMatching +OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:MBOAT7 semapv:UnspecifiedMatching +OMIM:606048 MBOAT7 skos:exactMatch ncbigene:79143 semapv:UnspecifiedMatching +OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch MONDO:0011626 semapv:UnspecifiedMatching +OMIM:606050 UBD skos:exactMatch hgnc.symbol:18795 semapv:UnspecifiedMatching +OMIM:606050 UBD skos:exactMatch hgnc.symbol:UBD semapv:UnspecifiedMatching +OMIM:606050 UBD skos:exactMatch ncbigene:10537 semapv:UnspecifiedMatching +OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:17499 semapv:UnspecifiedMatching +OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:SERGEF semapv:UnspecifiedMatching +OMIM:606051 SERGEF skos:exactMatch ncbigene:26297 semapv:UnspecifiedMatching +OMIM:606053 intellectual developmental disorder with autism and speech delay skos:exactMatch MONDO:0011627 semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch MONDO:0011628 semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch UMLS:C4551877 semapv:UnspecifiedMatching +OMIM:606055 PCTP skos:exactMatch hgnc.symbol:8752 semapv:UnspecifiedMatching +OMIM:606055 PCTP skos:exactMatch hgnc.symbol:PCTP semapv:UnspecifiedMatching +OMIM:606055 PCTP skos:exactMatch ncbigene:58488 semapv:UnspecifiedMatching +OMIM:606056 congenital disorder of glycosylation, iia iib skos:exactMatch MONDO:0011629 semapv:UnspecifiedMatching +OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:16629 semapv:UnspecifiedMatching +OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:RAPGEF3 semapv:UnspecifiedMatching +OMIM:606057 RAPGEF3 skos:exactMatch ncbigene:10411 semapv:UnspecifiedMatching +OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:16626 semapv:UnspecifiedMatching +OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:RAPGEF4 semapv:UnspecifiedMatching +OMIM:606058 RAPGEF4 skos:exactMatch ncbigene:11069 semapv:UnspecifiedMatching +OMIM:606059 PKIA skos:exactMatch hgnc.symbol:9017 semapv:UnspecifiedMatching +OMIM:606059 PKIA skos:exactMatch hgnc.symbol:PKIA semapv:UnspecifiedMatching +OMIM:606059 PKIA skos:exactMatch ncbigene:5569 semapv:UnspecifiedMatching +OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:28908 semapv:UnspecifiedMatching +OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:DNAJC12 semapv:UnspecifiedMatching +OMIM:606060 DNAJC12 skos:exactMatch ncbigene:56521 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch UMLS:C1420609 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch UMLS:C1969657 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:11598 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:TBX20 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch ncbigene:57057 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch UMLS:C1822780 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch UMLS:C5394608 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:2468 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:SMC3 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch ncbigene:9126 semapv:UnspecifiedMatching +OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:3511 semapv:UnspecifiedMatching +OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:EXO1 semapv:UnspecifiedMatching +OMIM:606063 EXO1 skos:exactMatch ncbigene:9156 semapv:UnspecifiedMatching +OMIM:606064 CD248 skos:exactMatch hgnc.symbol:18219 semapv:UnspecifiedMatching +OMIM:606064 CD248 skos:exactMatch hgnc.symbol:CD248 semapv:UnspecifiedMatching +OMIM:606064 CD248 skos:exactMatch ncbigene:57124 semapv:UnspecifiedMatching +OMIM:606065 ACKR4 skos:exactMatch UMLS:C1332704 semapv:UnspecifiedMatching +OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:1611 semapv:UnspecifiedMatching +OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:ACKR4 semapv:UnspecifiedMatching +OMIM:606065 ACKR4 skos:exactMatch ncbigene:51554 semapv:UnspecifiedMatching +OMIM:606066 LHX9 skos:exactMatch hgnc.symbol:14222 semapv:UnspecifiedMatching +OMIM:606066 LHX9 skos:exactMatch hgnc.symbol:LHX9 semapv:UnspecifiedMatching +OMIM:606066 LHX9 skos:exactMatch ncbigene:56956 semapv:UnspecifiedMatching +OMIM:606067 OTOR skos:exactMatch hgnc.symbol:8517 semapv:UnspecifiedMatching +OMIM:606067 OTOR skos:exactMatch hgnc.symbol:OTOR semapv:UnspecifiedMatching +OMIM:606067 OTOR skos:exactMatch ncbigene:56914 semapv:UnspecifiedMatching +OMIM:606068 retinitis pigmentosa 28 skos:exactMatch MONDO:0011630 semapv:UnspecifiedMatching +OMIM:606068 retinitis pigmentosa 28 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:606068 retinitis pigmentosa 28 skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching +OMIM:606069 hemochromatosis, iia 4 skos:exactMatch MONDO:0011631 semapv:UnspecifiedMatching +OMIM:606069 hemochromatosis, iia 4 skos:exactMatch Orphanet:139491 semapv:UnspecifiedMatching +OMIM:606069 hemochromatosis, iia 4 skos:exactMatch UMLS:C1853733 semapv:UnspecifiedMatching +OMIM:606070 amyotrophic lateral sclerosis 21 skos:exactMatch MONDO:0011632 semapv:UnspecifiedMatching +OMIM:606071 hereditary motor and sensory neuropathy, iia 2c skos:exactMatch MONDO:0011633 semapv:UnspecifiedMatching +OMIM:606072 rippling muscle disease 2 skos:exactMatch MONDO:0019947 semapv:UnspecifiedMatching +OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:29838 semapv:UnspecifiedMatching +OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:NDOR1 semapv:UnspecifiedMatching +OMIM:606073 NDOR1 skos:exactMatch ncbigene:27158 semapv:UnspecifiedMatching +OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:20460 semapv:UnspecifiedMatching +OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:GBGT1 semapv:UnspecifiedMatching +OMIM:606074 GBGT1 skos:exactMatch ncbigene:26301 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C1418458 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C1849096 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C1868097 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch UMLS:C4015307 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch hgnc.symbol:1160 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch hgnc.symbol:TWNK semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch ncbigene:56652 semapv:UnspecifiedMatching +OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:8981 semapv:UnspecifiedMatching +OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:PIK3R3 semapv:UnspecifiedMatching +OMIM:606076 PIK3R3 skos:exactMatch ncbigene:8503 semapv:UnspecifiedMatching +OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:14959 semapv:UnspecifiedMatching +OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:RBM15 semapv:UnspecifiedMatching +OMIM:606077 RBM15 skos:exactMatch ncbigene:64783 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch UMLS:C1422572 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:14334 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:MRTFA semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch ncbigene:57591 semapv:UnspecifiedMatching +OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:30375 semapv:UnspecifiedMatching +OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:CD163L1 semapv:UnspecifiedMatching +OMIM:606079 CD163L1 skos:exactMatch ncbigene:283316 semapv:UnspecifiedMatching +OMIM:606080 CHIA skos:exactMatch hgnc.symbol:17432 semapv:UnspecifiedMatching +OMIM:606080 CHIA skos:exactMatch hgnc.symbol:CHIA semapv:UnspecifiedMatching +OMIM:606080 CHIA skos:exactMatch ncbigene:27159 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch UMLS:C1420857 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:11985 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:TOMM70 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch ncbigene:9868 semapv:UnspecifiedMatching +OMIM:606082 goiter, multinodular 3 skos:exactMatch MONDO:0011635 semapv:UnspecifiedMatching +OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:30064 semapv:UnspecifiedMatching +OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:PBRM1 semapv:UnspecifiedMatching +OMIM:606083 PBRM1 skos:exactMatch ncbigene:55193 semapv:UnspecifiedMatching +OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:17014 semapv:UnspecifiedMatching +OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:CDC42EP1 semapv:UnspecifiedMatching +OMIM:606084 CDC42EP1 skos:exactMatch ncbigene:11135 semapv:UnspecifiedMatching +OMIM:606085 TES skos:exactMatch hgnc.symbol:14620 semapv:UnspecifiedMatching +OMIM:606085 TES skos:exactMatch hgnc.symbol:TES semapv:UnspecifiedMatching +OMIM:606085 TES skos:exactMatch ncbigene:26136 semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch UMLS:C1429001 semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:30793 semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:EIF5B semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch ncbigene:9669 semapv:UnspecifiedMatching +OMIM:606087 SYNM skos:exactMatch hgnc.symbol:24466 semapv:UnspecifiedMatching +OMIM:606087 SYNM skos:exactMatch hgnc.symbol:SYNM semapv:UnspecifiedMatching +OMIM:606087 SYNM skos:exactMatch ncbigene:23336 semapv:UnspecifiedMatching +OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:9036 semapv:UnspecifiedMatching +OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:PLA2G4B semapv:UnspecifiedMatching +OMIM:606088 PLA2G4B skos:exactMatch ncbigene:100137049 semapv:UnspecifiedMatching +OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:1022 semapv:UnspecifiedMatching +OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:BCYRN1 semapv:UnspecifiedMatching +OMIM:606089 BCYRN1 skos:exactMatch ncbigene:618 semapv:UnspecifiedMatching +OMIM:606090 CROT skos:exactMatch hgnc.symbol:2366 semapv:UnspecifiedMatching +OMIM:606090 CROT skos:exactMatch hgnc.symbol:CROT semapv:UnspecifiedMatching +OMIM:606090 CROT skos:exactMatch ncbigene:54677 semapv:UnspecifiedMatching +OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:15620 semapv:UnspecifiedMatching +OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:SIGLEC10 semapv:UnspecifiedMatching +OMIM:606091 SIGLEC10 skos:exactMatch ncbigene:89790 semapv:UnspecifiedMatching +OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:24581 semapv:UnspecifiedMatching +OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:DNAJC14 semapv:UnspecifiedMatching +OMIM:606092 DNAJC14 skos:exactMatch ncbigene:85406 semapv:UnspecifiedMatching +OMIM:606093 PPIG skos:exactMatch hgnc.symbol:14650 semapv:UnspecifiedMatching +OMIM:606093 PPIG skos:exactMatch hgnc.symbol:PPIG semapv:UnspecifiedMatching +OMIM:606093 PPIG skos:exactMatch ncbigene:9360 semapv:UnspecifiedMatching +OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:15482 semapv:UnspecifiedMatching +OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:SIGLEC12 semapv:UnspecifiedMatching +OMIM:606094 SIGLEC12 skos:exactMatch ncbigene:89858 semapv:UnspecifiedMatching +OMIM:606095 PPIH skos:exactMatch hgnc.symbol:14651 semapv:UnspecifiedMatching +OMIM:606095 PPIH skos:exactMatch hgnc.symbol:PPIH semapv:UnspecifiedMatching +OMIM:606095 PPIH skos:exactMatch ncbigene:10465 semapv:UnspecifiedMatching +OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:15788 semapv:UnspecifiedMatching +OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:LGALS12 semapv:UnspecifiedMatching +OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch ncbigene:85329 semapv:UnspecifiedMatching +OMIM:606097 PIGN skos:exactMatch hgnc.symbol:8967 semapv:UnspecifiedMatching +OMIM:606097 PIGN skos:exactMatch hgnc.symbol:PIGN semapv:UnspecifiedMatching +OMIM:606097 PIGN skos:exactMatch ncbigene:23556 semapv:UnspecifiedMatching +OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:14970 semapv:UnspecifiedMatching +OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:SNX6 semapv:UnspecifiedMatching +OMIM:606098 SNX6 skos:exactMatch ncbigene:58533 semapv:UnspecifiedMatching +OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:6569 semapv:UnspecifiedMatching +OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:LGALS8 semapv:UnspecifiedMatching +OMIM:606099 LGALS8 skos:exactMatch ncbigene:3964 semapv:UnspecifiedMatching +OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:3337 semapv:UnspecifiedMatching +OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:ADGRE2 semapv:UnspecifiedMatching +OMIM:606100 ADGRE2 skos:exactMatch ncbigene:30817 semapv:UnspecifiedMatching +OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:23647 semapv:UnspecifiedMatching +OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:ADGRE3 semapv:UnspecifiedMatching +OMIM:606101 ADGRE3 skos:exactMatch ncbigene:84658 semapv:UnspecifiedMatching +OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:8996 semapv:UnspecifiedMatching +OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:PIP5K1C semapv:UnspecifiedMatching +OMIM:606102 PIP5K1C skos:exactMatch ncbigene:23396 semapv:UnspecifiedMatching +OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:21595 semapv:UnspecifiedMatching +OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:SESN1 semapv:UnspecifiedMatching +OMIM:606103 SESN1 skos:exactMatch ncbigene:27244 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch UMLS:C1822758 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:18798 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:SLC44A1 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch ncbigene:23446 semapv:UnspecifiedMatching +OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:17292 semapv:UnspecifiedMatching +OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:SLC44A2 semapv:UnspecifiedMatching +OMIM:606106 SLC44A2 skos:exactMatch ncbigene:57153 semapv:UnspecifiedMatching +OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:13941 semapv:UnspecifiedMatching +OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:SLC44A4 semapv:UnspecifiedMatching +OMIM:606107 SLC44A4 skos:exactMatch ncbigene:80736 semapv:UnspecifiedMatching +OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:9275 semapv:UnspecifiedMatching +OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:PPM1A semapv:UnspecifiedMatching +OMIM:606108 PPM1A skos:exactMatch ncbigene:5494 semapv:UnspecifiedMatching +OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:24306 semapv:UnspecifiedMatching +OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:NUDCD1 semapv:UnspecifiedMatching +OMIM:606109 NUDCD1 skos:exactMatch ncbigene:84955 semapv:UnspecifiedMatching +OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:29604 semapv:UnspecifiedMatching +OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:LYNX1 semapv:UnspecifiedMatching +OMIM:606110 LYNX1 skos:exactMatch ncbigene:66004 semapv:UnspecifiedMatching +OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:20867 semapv:UnspecifiedMatching +OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:MCHR2 semapv:UnspecifiedMatching +OMIM:606111 MCHR2 skos:exactMatch ncbigene:84539 semapv:UnspecifiedMatching +OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:30327 semapv:UnspecifiedMatching +OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:RPP14 semapv:UnspecifiedMatching +OMIM:606112 RPP14 skos:exactMatch ncbigene:11102 semapv:UnspecifiedMatching +OMIM:606113 POP7 skos:exactMatch UMLS:C1426553 semapv:UnspecifiedMatching +OMIM:606113 POP7 skos:exactMatch hgnc.symbol:19949 semapv:UnspecifiedMatching +OMIM:606113 POP7 skos:exactMatch hgnc.symbol:POP7 semapv:UnspecifiedMatching +OMIM:606113 POP7 skos:exactMatch ncbigene:10248 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch UMLS:C1428930 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch hgnc.symbol:30081 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch hgnc.symbol:POP4 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch ncbigene:10775 semapv:UnspecifiedMatching +OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:17688 semapv:UnspecifiedMatching +OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:RPP30 semapv:UnspecifiedMatching +OMIM:606115 RPP30 skos:exactMatch ncbigene:10556 semapv:UnspecifiedMatching +OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:30329 semapv:UnspecifiedMatching +OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:RPP38 semapv:UnspecifiedMatching +OMIM:606116 RPP38 skos:exactMatch ncbigene:10557 semapv:UnspecifiedMatching +OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:20992 semapv:UnspecifiedMatching +OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:RPP40 semapv:UnspecifiedMatching +OMIM:606117 RPP40 skos:exactMatch ncbigene:10799 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch UMLS:C1423606 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:15597 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:HPS3 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch ncbigene:84343 semapv:UnspecifiedMatching +OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:18746 semapv:UnspecifiedMatching +OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:SLURP1 semapv:UnspecifiedMatching +OMIM:606119 SLURP1 skos:exactMatch ncbigene:57152 semapv:UnspecifiedMatching +OMIM:606121 CRCP skos:exactMatch hgnc.symbol:17888 semapv:UnspecifiedMatching +OMIM:606121 CRCP skos:exactMatch hgnc.symbol:CRCP semapv:UnspecifiedMatching +OMIM:606121 CRCP skos:exactMatch ncbigene:27297 semapv:UnspecifiedMatching +OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:11915 semapv:UnspecifiedMatching +OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:TNFRSF19 semapv:UnspecifiedMatching +OMIM:606122 TNFRSF19 skos:exactMatch ncbigene:55504 semapv:UnspecifiedMatching +OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:13430 semapv:UnspecifiedMatching +OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:TRIM17 semapv:UnspecifiedMatching +OMIM:606123 RNF16 skos:exactMatch ncbigene:51127 semapv:UnspecifiedMatching +OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:13431 semapv:UnspecifiedMatching +OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:TRIM49 semapv:UnspecifiedMatching +OMIM:606124 RNF18 skos:exactMatch ncbigene:57093 semapv:UnspecifiedMatching +OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:15579 semapv:UnspecifiedMatching +OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:TRIM8 semapv:UnspecifiedMatching +OMIM:606125 TRIM8 skos:exactMatch ncbigene:81603 semapv:UnspecifiedMatching +OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:16657 semapv:UnspecifiedMatching +OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:BCL2L14 semapv:UnspecifiedMatching +OMIM:606126 BCL2L14 skos:exactMatch ncbigene:79370 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch UMLS:C1423951 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:16067 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:MYOCD semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch ncbigene:93649 semapv:UnspecifiedMatching +OMIM:606129 diamond-blackfan anemia 2 skos:exactMatch MONDO:0011636 semapv:UnspecifiedMatching +OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:14646 semapv:UnspecifiedMatching +OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:RNF26 semapv:UnspecifiedMatching +OMIM:606130 RNF26 skos:exactMatch ncbigene:79102 semapv:UnspecifiedMatching +OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:16007 semapv:UnspecifiedMatching +OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:TRIM63 semapv:UnspecifiedMatching +OMIM:606131 TRIM63 skos:exactMatch ncbigene:84676 semapv:UnspecifiedMatching +OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:16263 semapv:UnspecifiedMatching +OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:CDC42EP2 semapv:UnspecifiedMatching +OMIM:606132 CDC42EP2 skos:exactMatch ncbigene:10435 semapv:UnspecifiedMatching +OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:16943 semapv:UnspecifiedMatching +OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:CDC42EP3 semapv:UnspecifiedMatching +OMIM:606133 CDC42EP3 skos:exactMatch ncbigene:10602 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch UMLS:C1826797 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch hgnc.symbol:14060 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch hgnc.symbol:REV1 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch ncbigene:51455 semapv:UnspecifiedMatching +OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:6362 semapv:UnspecifiedMatching +OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:KLK14 semapv:UnspecifiedMatching +OMIM:606135 KLK14 skos:exactMatch ncbigene:43847 semapv:UnspecifiedMatching +OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:9874 semapv:UnspecifiedMatching +OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:RASAL2 semapv:UnspecifiedMatching +OMIM:606136 RASAL2 skos:exactMatch ncbigene:9462 semapv:UnspecifiedMatching +OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:16962 semapv:UnspecifiedMatching +OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:CGREF1 semapv:UnspecifiedMatching +OMIM:606137 CGREF1 skos:exactMatch ncbigene:10669 semapv:UnspecifiedMatching +OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:15528 semapv:UnspecifiedMatching +OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:CGRRF1 semapv:UnspecifiedMatching +OMIM:606138 CGRRF1 skos:exactMatch ncbigene:10668 semapv:UnspecifiedMatching +OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:16857 semapv:UnspecifiedMatching +OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:KLF16 semapv:UnspecifiedMatching +OMIM:606139 KLF16 skos:exactMatch ncbigene:83855 semapv:UnspecifiedMatching +OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:14108 semapv:UnspecifiedMatching +OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:XPO7 semapv:UnspecifiedMatching +OMIM:606140 XPO7 skos:exactMatch ncbigene:23039 semapv:UnspecifiedMatching +OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:14428 semapv:UnspecifiedMatching +OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:RANBP17 semapv:UnspecifiedMatching +OMIM:606141 RANBP17 skos:exactMatch ncbigene:64901 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C1421998 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225531 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225532 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:13446 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:SLC2A9 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch ncbigene:56606 semapv:UnspecifiedMatching +OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:4041 semapv:UnspecifiedMatching +OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:FZD3 semapv:UnspecifiedMatching +OMIM:606143 FZD3 skos:exactMatch ncbigene:7976 semapv:UnspecifiedMatching +OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:14263 semapv:UnspecifiedMatching +OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:RAB23 semapv:UnspecifiedMatching +OMIM:606144 RAB23 skos:exactMatch ncbigene:51715 semapv:UnspecifiedMatching +OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:13444 semapv:UnspecifiedMatching +OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:SLC2A10 semapv:UnspecifiedMatching +OMIM:606145 SLC2A10 skos:exactMatch ncbigene:81031 semapv:UnspecifiedMatching +OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:4046 semapv:UnspecifiedMatching +OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:FZD8 semapv:UnspecifiedMatching +OMIM:606146 FZD8 skos:exactMatch ncbigene:8325 semapv:UnspecifiedMatching +OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:4039 semapv:UnspecifiedMatching +OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:FZD10 semapv:UnspecifiedMatching +OMIM:606147 FZD10 skos:exactMatch ncbigene:11211 semapv:UnspecifiedMatching +OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:3574 semapv:UnspecifiedMatching +OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:FADS1 semapv:UnspecifiedMatching +OMIM:606148 FADS1 skos:exactMatch ncbigene:3992 semapv:UnspecifiedMatching +OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:3575 semapv:UnspecifiedMatching +OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:FADS2 semapv:UnspecifiedMatching +OMIM:606149 FADS2 skos:exactMatch ncbigene:9415 semapv:UnspecifiedMatching +OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:3576 semapv:UnspecifiedMatching +OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:FADS3 semapv:UnspecifiedMatching +OMIM:606150 FADS3 skos:exactMatch ncbigene:3995 semapv:UnspecifiedMatching +OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:967 semapv:UnspecifiedMatching +OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:BBS2 semapv:UnspecifiedMatching +OMIM:606151 BBS2 skos:exactMatch ncbigene:583 semapv:UnspecifiedMatching +OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:16266 semapv:UnspecifiedMatching +OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:SLC19A3 semapv:UnspecifiedMatching +OMIM:606152 SLC19A3 skos:exactMatch ncbigene:80704 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch UMLS:C1412659 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:838 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:ATP5F1E semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch ncbigene:514 semapv:UnspecifiedMatching +OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:15582 semapv:UnspecifiedMatching +OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:MUC16 semapv:UnspecifiedMatching +OMIM:606154 MUC16 skos:exactMatch ncbigene:94025 semapv:UnspecifiedMatching +OMIM:606156 sener syndrome skos:exactMatch MONDO:0011637 semapv:UnspecifiedMatching +OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:15894 semapv:UnspecifiedMatching +OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:PANK2 semapv:UnspecifiedMatching +OMIM:606157 PANK2 skos:exactMatch ncbigene:80025 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C1423761 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C1720863 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C4014700 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C4016959 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:15832 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:BSCL2 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch ncbigene:26580 semapv:UnspecifiedMatching +OMIM:606159 neurodegeneration with brain iron accumulation 3 skos:exactMatch MONDO:0011638 semapv:UnspecifiedMatching +OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:8598 semapv:UnspecifiedMatching +OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:PANK1 semapv:UnspecifiedMatching +OMIM:606160 PANK1 skos:exactMatch ncbigene:53354 semapv:UnspecifiedMatching +OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:19365 semapv:UnspecifiedMatching +OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:PANK3 semapv:UnspecifiedMatching +OMIM:606161 PANK3 skos:exactMatch ncbigene:79646 semapv:UnspecifiedMatching +OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:19366 semapv:UnspecifiedMatching +OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:PANK4 semapv:UnspecifiedMatching +OMIM:606162 PANK4 skos:exactMatch ncbigene:55229 semapv:UnspecifiedMatching +OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch MONDO:0011639 semapv:UnspecifiedMatching +OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching +OMIM:606165 BOLL skos:exactMatch hgnc.symbol:14273 semapv:UnspecifiedMatching +OMIM:606165 BOLL skos:exactMatch hgnc.symbol:BOLL semapv:UnspecifiedMatching +OMIM:606165 BOLL skos:exactMatch ncbigene:66037 semapv:UnspecifiedMatching +OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:17482 semapv:UnspecifiedMatching +OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:GPR132 semapv:UnspecifiedMatching +OMIM:606167 GPR132 skos:exactMatch ncbigene:29933 semapv:UnspecifiedMatching +OMIM:606168 DDX20 skos:exactMatch UMLS:C1413960 semapv:UnspecifiedMatching +OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:2743 semapv:UnspecifiedMatching +OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:DDX20 semapv:UnspecifiedMatching +OMIM:606168 DDX20 skos:exactMatch ncbigene:11218 semapv:UnspecifiedMatching +OMIM:606170 genitopatellar syndrome skos:exactMatch MONDO:0011640 semapv:UnspecifiedMatching +OMIM:606170 genitopatellar syndrome skos:exactMatch Orphanet:85201 semapv:UnspecifiedMatching +OMIM:606170 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching +OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:16292 semapv:UnspecifiedMatching +OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:TRS-TGA2-1 semapv:UnspecifiedMatching +OMIM:606171 TRS-TGA2-1 skos:exactMatch ncbigene:94017 semapv:UnspecifiedMatching +OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:16294 semapv:UnspecifiedMatching +OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:TRS-TGA4-1 semapv:UnspecifiedMatching +OMIM:606172 TRS-TGA4-1 skos:exactMatch ncbigene:23540 semapv:UnspecifiedMatching +OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:19696 semapv:UnspecifiedMatching +OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:GRPEL1 semapv:UnspecifiedMatching +OMIM:606173 GRPEL1 skos:exactMatch ncbigene:80273 semapv:UnspecifiedMatching +OMIM:606174 baculum, congenital absence of skos:exactMatch MONDO:0011641 semapv:UnspecifiedMatching +OMIM:606175 carnitine acetyltransferase deficiency skos:exactMatch MONDO:0011642 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch MONDO:0100165 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:79134 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching +OMIM:606177 pars planitis skos:exactMatch MONDO:0011644 semapv:UnspecifiedMatching +OMIM:606178 HHIP skos:exactMatch hgnc.symbol:14866 semapv:UnspecifiedMatching +OMIM:606178 HHIP skos:exactMatch hgnc.symbol:HHIP semapv:UnspecifiedMatching +OMIM:606178 HHIP skos:exactMatch ncbigene:64399 semapv:UnspecifiedMatching +OMIM:606179 aneurysmal bone cysts skos:exactMatch MONDO:0018815 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch UMLS:C1539371 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:9137 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:EXOSC9 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch ncbigene:5393 semapv:UnspecifiedMatching +OMIM:606181 DDX24 skos:exactMatch UMLS:C1421913 semapv:UnspecifiedMatching +OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:13266 semapv:UnspecifiedMatching +OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:DDX24 semapv:UnspecifiedMatching +OMIM:606181 DDX24 skos:exactMatch ncbigene:57062 semapv:UnspecifiedMatching +OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:11939 semapv:UnspecifiedMatching +OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:TNFSF9 semapv:UnspecifiedMatching +OMIM:606182 TNFSF9 skos:exactMatch ncbigene:8744 semapv:UnspecifiedMatching +OMIM:606183 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch MONDO:0011646 semapv:UnspecifiedMatching +OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:14605 semapv:UnspecifiedMatching +OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:ADAMTS12 semapv:UnspecifiedMatching +OMIM:606184 ADAMTS12 skos:exactMatch ncbigene:81792 semapv:UnspecifiedMatching +OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:18022 semapv:UnspecifiedMatching +OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:TP53INP1 semapv:UnspecifiedMatching +OMIM:606185 TP53INP1 skos:exactMatch ncbigene:94241 semapv:UnspecifiedMatching +OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:30423 semapv:UnspecifiedMatching +OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:CACYBP semapv:UnspecifiedMatching +OMIM:606186 CACYBP skos:exactMatch ncbigene:27101 semapv:UnspecifiedMatching +OMIM:606187 alzheimer disease 7 skos:exactMatch MONDO:0011647 semapv:UnspecifiedMatching +OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:206 semapv:UnspecifiedMatching +OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:ADAM28 semapv:UnspecifiedMatching +OMIM:606188 ADAM28 skos:exactMatch ncbigene:10863 semapv:UnspecifiedMatching +OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:2359 semapv:UnspecifiedMatching +OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:CRIM1 semapv:UnspecifiedMatching +OMIM:606189 CRIM1 skos:exactMatch ncbigene:51232 semapv:UnspecifiedMatching +OMIM:606190 meningioma, radiation-induced skos:exactMatch MONDO:0011648 semapv:UnspecifiedMatching +OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:17069 semapv:UnspecifiedMatching +OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:FNBP1 semapv:UnspecifiedMatching +OMIM:606191 FNBP1 skos:exactMatch ncbigene:23048 semapv:UnspecifiedMatching +OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:1143 semapv:UnspecifiedMatching +OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:BTNL3 semapv:UnspecifiedMatching +OMIM:606192 BTNL3 skos:exactMatch ncbigene:10917 semapv:UnspecifiedMatching +OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:10916 semapv:UnspecifiedMatching +OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:SLC13A1 semapv:UnspecifiedMatching +OMIM:606193 SLC13A1 skos:exactMatch ncbigene:6561 semapv:UnspecifiedMatching +OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:6438 semapv:UnspecifiedMatching +OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:KRT23 semapv:UnspecifiedMatching +OMIM:606194 KRT23 skos:exactMatch ncbigene:25984 semapv:UnspecifiedMatching +OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:14361 semapv:UnspecifiedMatching +OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:IRX5 semapv:UnspecifiedMatching +OMIM:606195 IRX5 skos:exactMatch ncbigene:10265 semapv:UnspecifiedMatching +OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:14675 semapv:UnspecifiedMatching +OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:IRX6 semapv:UnspecifiedMatching +OMIM:606196 IRX6 skos:exactMatch ncbigene:79190 semapv:UnspecifiedMatching +OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:14358 semapv:UnspecifiedMatching +OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:IRX1 semapv:UnspecifiedMatching +OMIM:606197 IRX1 skos:exactMatch ncbigene:79192 semapv:UnspecifiedMatching +OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:14359 semapv:UnspecifiedMatching +OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:IRX2 semapv:UnspecifiedMatching +OMIM:606198 IRX2 skos:exactMatch ncbigene:153572 semapv:UnspecifiedMatching +OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:6129 semapv:UnspecifiedMatching +OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:IRX4 semapv:UnspecifiedMatching +OMIM:606199 IRX4 skos:exactMatch ncbigene:50805 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch UMLS:C1424440 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:16617 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:BHLHE41 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch ncbigene:79365 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C1421501 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C1833021 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C3280358 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C3805412 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C4016960 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch UMLS:C4551693 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:12762 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:WFS1 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch ncbigene:7466 semapv:UnspecifiedMatching +OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:16472 semapv:UnspecifiedMatching +OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:SLC45A2 semapv:UnspecifiedMatching +OMIM:606202 SLC45A2 skos:exactMatch ncbigene:51151 semapv:UnspecifiedMatching +OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:14458 semapv:UnspecifiedMatching +OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:GAB2 semapv:UnspecifiedMatching +OMIM:606203 GAB2 skos:exactMatch ncbigene:9846 semapv:UnspecifiedMatching +OMIM:606204 LY6D skos:exactMatch hgnc.symbol:13348 semapv:UnspecifiedMatching +OMIM:606204 LY6D skos:exactMatch hgnc.symbol:LY6D semapv:UnspecifiedMatching +OMIM:606204 LY6D skos:exactMatch ncbigene:8581 semapv:UnspecifiedMatching +OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:11054 semapv:UnspecifiedMatching +OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:SLC6A7 semapv:UnspecifiedMatching +OMIM:606205 SLC6A7 skos:exactMatch ncbigene:6534 semapv:UnspecifiedMatching +OMIM:606206 MT4 skos:exactMatch hgnc.symbol:18705 semapv:UnspecifiedMatching +OMIM:606206 MT4 skos:exactMatch hgnc.symbol:MT4 semapv:UnspecifiedMatching +OMIM:606206 MT4 skos:exactMatch ncbigene:84560 semapv:UnspecifiedMatching +OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:11001 semapv:UnspecifiedMatching +OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:SLC28A1 semapv:UnspecifiedMatching +OMIM:606207 SLC28A1 skos:exactMatch ncbigene:9154 semapv:UnspecifiedMatching +OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:11002 semapv:UnspecifiedMatching +OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:SLC28A2 semapv:UnspecifiedMatching +OMIM:606208 SLC28A2 skos:exactMatch ncbigene:9153 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch UMLS:C1823893 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:16959 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:YKT6 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch ncbigene:10652 semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch UMLS:C0546264 semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch UMLS:C1423899 semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch hgnc.symbol:15999 semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch hgnc.symbol:SELENON semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch ncbigene:57190 semapv:UnspecifiedMatching +OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:14934 semapv:UnspecifiedMatching +OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:SIRT6 semapv:UnspecifiedMatching +OMIM:606211 SIRT6 skos:exactMatch ncbigene:51548 semapv:UnspecifiedMatching +OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:14935 semapv:UnspecifiedMatching +OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:SIRT7 semapv:UnspecifiedMatching +OMIM:606212 SIRT7 skos:exactMatch ncbigene:51547 semapv:UnspecifiedMatching +OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:11325 semapv:UnspecifiedMatching +OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:SSR3 semapv:UnspecifiedMatching +OMIM:606213 SSR3 skos:exactMatch ncbigene:6747 semapv:UnspecifiedMatching +OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:14896 semapv:UnspecifiedMatching +OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:SPTBN4 semapv:UnspecifiedMatching +OMIM:606214 SPTBN4 skos:exactMatch ncbigene:57731 semapv:UnspecifiedMatching +OMIM:606215 atrioventricular septal defect skos:exactMatch MONDO:0859565 semapv:UnspecifiedMatching +OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:14133 semapv:UnspecifiedMatching +OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:MSRB1 semapv:UnspecifiedMatching +OMIM:606216 MSRB1 skos:exactMatch ncbigene:51734 semapv:UnspecifiedMatching +OMIM:606217 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch MONDO:0011650 semapv:UnspecifiedMatching +OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:19686 semapv:UnspecifiedMatching +OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:SEPHS2 semapv:UnspecifiedMatching +OMIM:606218 SEPHS2 skos:exactMatch ncbigene:22928 semapv:UnspecifiedMatching +OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:16264 semapv:UnspecifiedMatching +OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:TRAP1 semapv:UnspecifiedMatching +OMIM:606219 TRAP1 skos:exactMatch ncbigene:10131 semapv:UnspecifiedMatching +OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects skos:exactMatch MONDO:0011651 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch UMLS:C1825590 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:13178 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:IKZF3 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch ncbigene:22806 semapv:UnspecifiedMatching +OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:5953 semapv:UnspecifiedMatching +OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:IGSF6 semapv:UnspecifiedMatching +OMIM:606222 IGSF6 skos:exactMatch ncbigene:10261 semapv:UnspecifiedMatching +OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:9559 semapv:UnspecifiedMatching +OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:PSMD2 semapv:UnspecifiedMatching +OMIM:606223 PSMD2 skos:exactMatch ncbigene:5708 semapv:UnspecifiedMatching +OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:17820 semapv:UnspecifiedMatching +OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:NT5C3A semapv:UnspecifiedMatching +OMIM:606224 NT5C3A skos:exactMatch ncbigene:51251 semapv:UnspecifiedMatching +OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:14448 semapv:UnspecifiedMatching +OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:TAS1R1 semapv:UnspecifiedMatching +OMIM:606225 TAS1R1 skos:exactMatch ncbigene:80835 semapv:UnspecifiedMatching +OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:14905 semapv:UnspecifiedMatching +OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:TAS1R2 semapv:UnspecifiedMatching +OMIM:606226 TAS1R2 skos:exactMatch ncbigene:80834 semapv:UnspecifiedMatching +OMIM:606227 MFRP skos:exactMatch hgnc.symbol:18121 semapv:UnspecifiedMatching +OMIM:606227 MFRP skos:exactMatch hgnc.symbol:MFRP semapv:UnspecifiedMatching +OMIM:606227 MFRP skos:exactMatch ncbigene:83552 semapv:UnspecifiedMatching +OMIM:606228 AGO1 skos:exactMatch UMLS:C1414332 semapv:UnspecifiedMatching +OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:3262 semapv:UnspecifiedMatching +OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:AGO1 semapv:UnspecifiedMatching +OMIM:606228 AGO1 skos:exactMatch ncbigene:26523 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch UMLS:C1414333 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch UMLS:C5436892 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:3263 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:AGO2 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch ncbigene:27161 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch UMLS:C1422550 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch UMLS:C3151380 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:14294 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:SHANK3 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch ncbigene:85358 semapv:UnspecifiedMatching +OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:18242 semapv:UnspecifiedMatching +OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:APPL2 semapv:UnspecifiedMatching +OMIM:606231 APPL2 skos:exactMatch ncbigene:55198 semapv:UnspecifiedMatching +OMIM:606232 phelan-mcdermid syndrome skos:exactMatch MONDO:0011652 semapv:UnspecifiedMatching +OMIM:606232 phelan-mcdermid syndrome skos:exactMatch Orphanet:48652 semapv:UnspecifiedMatching +OMIM:606232 phelan-mcdermid syndrome skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching +OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:18454 semapv:UnspecifiedMatching +OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:PROK1 semapv:UnspecifiedMatching +OMIM:606233 PROK1 skos:exactMatch ncbigene:84432 semapv:UnspecifiedMatching +OMIM:606234 IKZF2 skos:exactMatch UMLS:C1825589 semapv:UnspecifiedMatching +OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:13177 semapv:UnspecifiedMatching +OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:IKZF2 semapv:UnspecifiedMatching +OMIM:606234 IKZF2 skos:exactMatch ncbigene:22807 semapv:UnspecifiedMatching +OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:20667 semapv:UnspecifiedMatching +OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:TXNRD3 semapv:UnspecifiedMatching +OMIM:606235 TXNRD3 skos:exactMatch ncbigene:114112 semapv:UnspecifiedMatching +OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:13825 semapv:UnspecifiedMatching +OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:ASPSCR1 semapv:UnspecifiedMatching +OMIM:606236 ASPSCR1 skos:exactMatch ncbigene:79058 semapv:UnspecifiedMatching +OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:16836 semapv:UnspecifiedMatching +OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:TGFBRAP1 semapv:UnspecifiedMatching +OMIM:606237 TGFBRAP1 skos:exactMatch ncbigene:9392 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch UMLS:C1825591 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:14283 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:IKZF5 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch ncbigene:64376 semapv:UnspecifiedMatching +OMIM:606239 IKZF4 skos:exactMatch UMLS:C1421861 semapv:UnspecifiedMatching +OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:13179 semapv:UnspecifiedMatching +OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:IKZF4 semapv:UnspecifiedMatching +OMIM:606239 IKZF4 skos:exactMatch ncbigene:64375 semapv:UnspecifiedMatching +OMIM:606240 thyroid cancer, nonmedullary, 3 skos:exactMatch MONDO:0011653 semapv:UnspecifiedMatching +OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:17098 semapv:UnspecifiedMatching +OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:DICER1 semapv:UnspecifiedMatching +OMIM:606241 DICER1 skos:exactMatch ncbigene:23405 semapv:UnspecifiedMatching +OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch MONDO:0011654 semapv:UnspecifiedMatching +OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching +OMIM:606243 alveolar soft part sarcoma skos:exactMatch MONDO:0011655 semapv:UnspecifiedMatching +OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:11358 semapv:UnspecifiedMatching +OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:STAM2 semapv:UnspecifiedMatching +OMIM:606244 STAM2 skos:exactMatch ncbigene:10254 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch UMLS:C1539902 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:17101 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:SUZ12 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch ncbigene:23512 semapv:UnspecifiedMatching +OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:28917 semapv:UnspecifiedMatching +OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:JAZF1 semapv:UnspecifiedMatching +OMIM:606246 JAZF1 skos:exactMatch ncbigene:221895 semapv:UnspecifiedMatching +OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:16950 semapv:UnspecifiedMatching +OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:STAMBP semapv:UnspecifiedMatching +OMIM:606247 STAMBP skos:exactMatch ncbigene:10617 semapv:UnspecifiedMatching +OMIM:606248 QPRT skos:exactMatch hgnc.symbol:9755 semapv:UnspecifiedMatching +OMIM:606248 QPRT skos:exactMatch hgnc.symbol:QPRT semapv:UnspecifiedMatching +OMIM:606248 QPRT skos:exactMatch ncbigene:23475 semapv:UnspecifiedMatching +OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:14542 semapv:UnspecifiedMatching +OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:WNK2 semapv:UnspecifiedMatching +OMIM:606249 WNK2 skos:exactMatch ncbigene:65268 semapv:UnspecifiedMatching +OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:4130 semapv:UnspecifiedMatching +OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:GALNT8 semapv:UnspecifiedMatching +OMIM:606250 GALNT8 skos:exactMatch ncbigene:26290 semapv:UnspecifiedMatching +OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:4131 semapv:UnspecifiedMatching +OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:GALNT9 semapv:UnspecifiedMatching +OMIM:606251 GALNT9 skos:exactMatch ncbigene:50614 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C1424810 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C1970686 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:17192 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:TIRAP semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch ncbigene:114609 semapv:UnspecifiedMatching +OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:17705 semapv:UnspecifiedMatching +OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:SELENOF semapv:UnspecifiedMatching +OMIM:606254 SELENOF skos:exactMatch ncbigene:9403 semapv:UnspecifiedMatching +OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:17262 semapv:UnspecifiedMatching +OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:BRMS1 semapv:UnspecifiedMatching +OMIM:606259 BRMS1 skos:exactMatch ncbigene:25855 semapv:UnspecifiedMatching +OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:14596 semapv:UnspecifiedMatching +OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:MTMR9 semapv:UnspecifiedMatching +OMIM:606260 MTMR9 skos:exactMatch ncbigene:66036 semapv:UnspecifiedMatching +OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:8053 semapv:UnspecifiedMatching +OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:NUDT6 semapv:UnspecifiedMatching +OMIM:606261 NUDT6 skos:exactMatch ncbigene:11162 semapv:UnspecifiedMatching +OMIM:606263 paget disease of bone 4 skos:exactMatch MONDO:0011656 semapv:UnspecifiedMatching +OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:14558 semapv:UnspecifiedMatching +OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:CLEC7A semapv:UnspecifiedMatching +OMIM:606264 CLEC7A skos:exactMatch ncbigene:64581 semapv:UnspecifiedMatching +OMIM:606265 EP400 skos:exactMatch hgnc.symbol:11958 semapv:UnspecifiedMatching +OMIM:606265 EP400 skos:exactMatch hgnc.symbol:EP400 semapv:UnspecifiedMatching +OMIM:606265 EP400 skos:exactMatch ncbigene:57634 semapv:UnspecifiedMatching +OMIM:606266 BMF skos:exactMatch hgnc.symbol:24132 semapv:UnspecifiedMatching +OMIM:606266 BMF skos:exactMatch hgnc.symbol:BMF semapv:UnspecifiedMatching +OMIM:606266 BMF skos:exactMatch ncbigene:90427 semapv:UnspecifiedMatching +OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:16267 semapv:UnspecifiedMatching +OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:WNT16 semapv:UnspecifiedMatching +OMIM:606267 WNT16 skos:exactMatch ncbigene:51384 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch UMLS:C1422222 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch UMLS:C1835492 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:13829 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:WNT10A semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch ncbigene:80326 semapv:UnspecifiedMatching +OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:17755 semapv:UnspecifiedMatching +OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:TNFRSF13C semapv:UnspecifiedMatching +OMIM:606269 TNFRSF13C skos:exactMatch ncbigene:115650 semapv:UnspecifiedMatching +OMIM:606270 TLR10 skos:exactMatch UMLS:C1423634 semapv:UnspecifiedMatching +OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:15634 semapv:UnspecifiedMatching +OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:TLR10 semapv:UnspecifiedMatching +OMIM:606270 TLR10 skos:exactMatch ncbigene:81793 semapv:UnspecifiedMatching +OMIM:606271 DISC2 skos:exactMatch hgnc.symbol:2889 semapv:UnspecifiedMatching +OMIM:606271 DISC2 skos:exactMatch hgnc.symbol:DISC2 semapv:UnspecifiedMatching +OMIM:606271 DISC2 skos:exactMatch ncbigene:27184 semapv:UnspecifiedMatching +OMIM:606272 CTNS skos:exactMatch hgnc.symbol:2518 semapv:UnspecifiedMatching +OMIM:606272 CTNS skos:exactMatch hgnc.symbol:CTNS semapv:UnspecifiedMatching +OMIM:606272 CTNS skos:exactMatch ncbigene:1497 semapv:UnspecifiedMatching +OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:3259 semapv:UnspecifiedMatching +OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:EIF2B3 semapv:UnspecifiedMatching +OMIM:606273 EIF2B3 skos:exactMatch ncbigene:8891 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C1413757 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:2454 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:CSNK1G1 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch ncbigene:53944 semapv:UnspecifiedMatching +OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:14882 semapv:UnspecifiedMatching +OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:CRTAC1 semapv:UnspecifiedMatching +OMIM:606276 CRTAC1 skos:exactMatch ncbigene:55118 semapv:UnspecifiedMatching +OMIM:606277 TOLLIP skos:exactMatch hgnc.symbol:16476 semapv:UnspecifiedMatching +OMIM:606277 TOLLIP skos:exactMatch hgnc.symbol:TOLLIP semapv:UnspecifiedMatching +OMIM:606277 TOLLIP skos:exactMatch ncbigene:54472 semapv:UnspecifiedMatching +OMIM:606278 FBXW7 skos:exactMatch UMLS:C1333533 semapv:UnspecifiedMatching +OMIM:606278 FBXW7 skos:exactMatch hgnc.symbol:16712 semapv:UnspecifiedMatching +OMIM:606278 FBXW7 skos:exactMatch hgnc.symbol:FBXW7 semapv:UnspecifiedMatching +OMIM:606278 FBXW7 skos:exactMatch ncbigene:55294 semapv:UnspecifiedMatching +OMIM:606279 ABI3BP skos:exactMatch hgnc.symbol:17265 semapv:UnspecifiedMatching +OMIM:606279 ABI3BP skos:exactMatch hgnc.symbol:ABI3BP semapv:UnspecifiedMatching +OMIM:606279 ABI3BP skos:exactMatch ncbigene:25890 semapv:UnspecifiedMatching +OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:24304 semapv:UnspecifiedMatching +OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:NCAPG semapv:UnspecifiedMatching +OMIM:606280 NCAPG skos:exactMatch ncbigene:64151 semapv:UnspecifiedMatching +OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:9776 semapv:UnspecifiedMatching +OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:RAB38 semapv:UnspecifiedMatching +OMIM:606281 RAB38 skos:exactMatch ncbigene:23682 semapv:UnspecifiedMatching +OMIM:606282 deafness, autosomal dominant 24 skos:exactMatch MONDO:0011657 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch UMLS:C1539803 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:16697 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:SORCS1 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch ncbigene:114815 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch UMLS:C1539804 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:16698 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:SORCS2 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch ncbigene:57537 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch UMLS:C1539805 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:16699 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:SORCS3 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch ncbigene:22986 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch UMLS:C1425700 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:18677 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:DDX43 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch ncbigene:55510 semapv:UnspecifiedMatching +OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:8696 semapv:UnspecifiedMatching +OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:PCDHGA1 semapv:UnspecifiedMatching +OMIM:606288 PCDHGA1 skos:exactMatch ncbigene:56114 semapv:UnspecifiedMatching +OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:8700 semapv:UnspecifiedMatching +OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:PCDHGA2 semapv:UnspecifiedMatching +OMIM:606289 PCDHGA2 skos:exactMatch ncbigene:56113 semapv:UnspecifiedMatching +OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:8701 semapv:UnspecifiedMatching +OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:PCDHGA3 semapv:UnspecifiedMatching +OMIM:606290 PCDHGA3 skos:exactMatch ncbigene:56112 semapv:UnspecifiedMatching +OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:8702 semapv:UnspecifiedMatching +OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:PCDHGA4 semapv:UnspecifiedMatching +OMIM:606291 PCDHGA4 skos:exactMatch ncbigene:56111 semapv:UnspecifiedMatching +OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:8703 semapv:UnspecifiedMatching +OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:PCDHGA5 semapv:UnspecifiedMatching +OMIM:606292 PCDHGA5 skos:exactMatch ncbigene:56110 semapv:UnspecifiedMatching +OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:8704 semapv:UnspecifiedMatching +OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:PCDHGA6 semapv:UnspecifiedMatching +OMIM:606293 PCDHGA6 skos:exactMatch ncbigene:56109 semapv:UnspecifiedMatching +OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:8705 semapv:UnspecifiedMatching +OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:PCDHGA7 semapv:UnspecifiedMatching +OMIM:606294 PCDHGA7 skos:exactMatch ncbigene:56108 semapv:UnspecifiedMatching +OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:8706 semapv:UnspecifiedMatching +OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:PCDHGA8 semapv:UnspecifiedMatching +OMIM:606295 PCDHGA8 skos:exactMatch ncbigene:9708 semapv:UnspecifiedMatching +OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:8707 semapv:UnspecifiedMatching +OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:PCDHGA9 semapv:UnspecifiedMatching +OMIM:606296 PCDHGA9 skos:exactMatch ncbigene:56107 semapv:UnspecifiedMatching +OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:8697 semapv:UnspecifiedMatching +OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:PCDHGA10 semapv:UnspecifiedMatching +OMIM:606297 PCDHGA10 skos:exactMatch ncbigene:56106 semapv:UnspecifiedMatching +OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:8698 semapv:UnspecifiedMatching +OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:PCDHGA11 semapv:UnspecifiedMatching +OMIM:606298 PCDHGA11 skos:exactMatch ncbigene:56105 semapv:UnspecifiedMatching +OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:8708 semapv:UnspecifiedMatching +OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:PCDHGB1 semapv:UnspecifiedMatching +OMIM:606299 PCDHGB1 skos:exactMatch ncbigene:56104 semapv:UnspecifiedMatching +OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:8709 semapv:UnspecifiedMatching +OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:PCDHGB2 semapv:UnspecifiedMatching +OMIM:606300 PCDHGB2 skos:exactMatch ncbigene:56103 semapv:UnspecifiedMatching +OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:8710 semapv:UnspecifiedMatching +OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:PCDHGB3 semapv:UnspecifiedMatching +OMIM:606301 PCDHGB3 skos:exactMatch ncbigene:56102 semapv:UnspecifiedMatching +OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:8712 semapv:UnspecifiedMatching +OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:PCDHGB5 semapv:UnspecifiedMatching +OMIM:606302 PCDHGB5 skos:exactMatch ncbigene:56101 semapv:UnspecifiedMatching +OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:8713 semapv:UnspecifiedMatching +OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:PCDHGB6 semapv:UnspecifiedMatching +OMIM:606303 PCDHGB6 skos:exactMatch ncbigene:56100 semapv:UnspecifiedMatching +OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:8714 semapv:UnspecifiedMatching +OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:PCDHGB7 semapv:UnspecifiedMatching +OMIM:606304 PCDHGB7 skos:exactMatch ncbigene:56099 semapv:UnspecifiedMatching +OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:8717 semapv:UnspecifiedMatching +OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:PCDHGC4 semapv:UnspecifiedMatching +OMIM:606305 PCDHGC4 skos:exactMatch ncbigene:56098 semapv:UnspecifiedMatching +OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:8718 semapv:UnspecifiedMatching +OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:PCDHGC5 semapv:UnspecifiedMatching +OMIM:606306 PCDHGC5 skos:exactMatch ncbigene:56097 semapv:UnspecifiedMatching +OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:8663 semapv:UnspecifiedMatching +OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:PCDHA1 semapv:UnspecifiedMatching +OMIM:606307 PCDHA1 skos:exactMatch ncbigene:56147 semapv:UnspecifiedMatching +OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:8668 semapv:UnspecifiedMatching +OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:PCDHA2 semapv:UnspecifiedMatching +OMIM:606308 PCDHA2 skos:exactMatch ncbigene:56146 semapv:UnspecifiedMatching +OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:8669 semapv:UnspecifiedMatching +OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:PCDHA3 semapv:UnspecifiedMatching +OMIM:606309 PCDHA3 skos:exactMatch ncbigene:56145 semapv:UnspecifiedMatching +OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:8670 semapv:UnspecifiedMatching +OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:PCDHA4 semapv:UnspecifiedMatching +OMIM:606310 PCDHA4 skos:exactMatch ncbigene:56144 semapv:UnspecifiedMatching +OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:8671 semapv:UnspecifiedMatching +OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:PCDHA5 semapv:UnspecifiedMatching +OMIM:606311 PCDHA5 skos:exactMatch ncbigene:56143 semapv:UnspecifiedMatching +OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:8672 semapv:UnspecifiedMatching +OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:PCDHA6 semapv:UnspecifiedMatching +OMIM:606312 PCDHA6 skos:exactMatch ncbigene:56142 semapv:UnspecifiedMatching +OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:8673 semapv:UnspecifiedMatching +OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:PCDHA7 semapv:UnspecifiedMatching +OMIM:606313 PCDHA7 skos:exactMatch ncbigene:56141 semapv:UnspecifiedMatching +OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:8674 semapv:UnspecifiedMatching +OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:PCDHA8 semapv:UnspecifiedMatching +OMIM:606314 PCDHA8 skos:exactMatch ncbigene:56140 semapv:UnspecifiedMatching +OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:8675 semapv:UnspecifiedMatching +OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:PCDHA9 semapv:UnspecifiedMatching +OMIM:606315 PCDHA9 skos:exactMatch ncbigene:9752 semapv:UnspecifiedMatching +OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:8664 semapv:UnspecifiedMatching +OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:PCDHA10 semapv:UnspecifiedMatching +OMIM:606316 PCDHA10 skos:exactMatch ncbigene:56139 semapv:UnspecifiedMatching +OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:8665 semapv:UnspecifiedMatching +OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:PCDHA11 semapv:UnspecifiedMatching +OMIM:606317 PCDHA11 skos:exactMatch ncbigene:56138 semapv:UnspecifiedMatching +OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:8666 semapv:UnspecifiedMatching +OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:PCDHA12 semapv:UnspecifiedMatching +OMIM:606318 PCDHA12 skos:exactMatch ncbigene:56137 semapv:UnspecifiedMatching +OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:8667 semapv:UnspecifiedMatching +OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:PCDHA13 semapv:UnspecifiedMatching +OMIM:606319 PCDHA13 skos:exactMatch ncbigene:56136 semapv:UnspecifiedMatching +OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:8676 semapv:UnspecifiedMatching +OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:PCDHAC1 semapv:UnspecifiedMatching +OMIM:606320 PCDHAC1 skos:exactMatch ncbigene:56135 semapv:UnspecifiedMatching +OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:8677 semapv:UnspecifiedMatching +OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:PCDHAC2 semapv:UnspecifiedMatching +OMIM:606321 PCDHAC2 skos:exactMatch ncbigene:56134 semapv:UnspecifiedMatching +OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:13759 semapv:UnspecifiedMatching +OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:CYFIP1 semapv:UnspecifiedMatching +OMIM:606322 CYFIP1 skos:exactMatch ncbigene:23191 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch UMLS:C1422187 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:13760 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:CYFIP2 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch ncbigene:26999 semapv:UnspecifiedMatching +OMIM:606324 parkinson disease 7, autosomal recessive early-onset skos:exactMatch MONDO:0011658 semapv:UnspecifiedMatching +OMIM:606325 heterotaxy, visceral, 3, autosomal skos:exactMatch MONDO:0011659 semapv:UnspecifiedMatching +OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:10892 semapv:UnspecifiedMatching +OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:SIX6 semapv:UnspecifiedMatching +OMIM:606326 SIX6 skos:exactMatch ncbigene:4990 semapv:UnspecifiedMatching +OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:8680 semapv:UnspecifiedMatching +OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:PCDHB1 semapv:UnspecifiedMatching +OMIM:606327 PCDHB1 skos:exactMatch ncbigene:29930 semapv:UnspecifiedMatching +OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:8687 semapv:UnspecifiedMatching +OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:PCDHB2 semapv:UnspecifiedMatching +OMIM:606328 PCDHB2 skos:exactMatch ncbigene:56133 semapv:UnspecifiedMatching +OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:8688 semapv:UnspecifiedMatching +OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:PCDHB3 semapv:UnspecifiedMatching +OMIM:606329 PCDHB3 skos:exactMatch ncbigene:56132 semapv:UnspecifiedMatching +OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:8689 semapv:UnspecifiedMatching +OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:PCDHB4 semapv:UnspecifiedMatching +OMIM:606330 PCDHB4 skos:exactMatch ncbigene:56131 semapv:UnspecifiedMatching +OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:8690 semapv:UnspecifiedMatching +OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:PCDHB5 semapv:UnspecifiedMatching +OMIM:606331 PCDHB5 skos:exactMatch ncbigene:26167 semapv:UnspecifiedMatching +OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:8691 semapv:UnspecifiedMatching +OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:PCDHB6 semapv:UnspecifiedMatching +OMIM:606332 PCDHB6 skos:exactMatch ncbigene:56130 semapv:UnspecifiedMatching +OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:8692 semapv:UnspecifiedMatching +OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:PCDHB7 semapv:UnspecifiedMatching +OMIM:606333 PCDHB7 skos:exactMatch ncbigene:56129 semapv:UnspecifiedMatching +OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:8693 semapv:UnspecifiedMatching +OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:PCDHB8 semapv:UnspecifiedMatching +OMIM:606334 PCDHB8 skos:exactMatch ncbigene:56128 semapv:UnspecifiedMatching +OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:8694 semapv:UnspecifiedMatching +OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:PCDHB9 semapv:UnspecifiedMatching +OMIM:606335 PCDHB9 skos:exactMatch ncbigene:56127 semapv:UnspecifiedMatching +OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:8681 semapv:UnspecifiedMatching +OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:PCDHB10 semapv:UnspecifiedMatching +OMIM:606336 PCDHB10 skos:exactMatch ncbigene:56126 semapv:UnspecifiedMatching +OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:8682 semapv:UnspecifiedMatching +OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:PCDHB11 semapv:UnspecifiedMatching +OMIM:606337 PCDHB11 skos:exactMatch ncbigene:56125 semapv:UnspecifiedMatching +OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:8683 semapv:UnspecifiedMatching +OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:PCDHB12 semapv:UnspecifiedMatching +OMIM:606338 PCDHB12 skos:exactMatch ncbigene:56124 semapv:UnspecifiedMatching +OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:8684 semapv:UnspecifiedMatching +OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:PCDHB13 semapv:UnspecifiedMatching +OMIM:606339 PCDHB13 skos:exactMatch ncbigene:56123 semapv:UnspecifiedMatching +OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:8685 semapv:UnspecifiedMatching +OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:PCDHB14 semapv:UnspecifiedMatching +OMIM:606340 PCDHB14 skos:exactMatch ncbigene:56122 semapv:UnspecifiedMatching +OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:8686 semapv:UnspecifiedMatching +OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:PCDHB15 semapv:UnspecifiedMatching +OMIM:606341 PCDHB15 skos:exactMatch ncbigene:56121 semapv:UnspecifiedMatching +OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:10890 semapv:UnspecifiedMatching +OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:SIX4 semapv:UnspecifiedMatching +OMIM:606342 SIX4 skos:exactMatch ncbigene:51804 semapv:UnspecifiedMatching +OMIM:606343 POLL skos:exactMatch hgnc.symbol:9184 semapv:UnspecifiedMatching +OMIM:606343 POLL skos:exactMatch hgnc.symbol:POLL semapv:UnspecifiedMatching +OMIM:606343 POLL skos:exactMatch ncbigene:27343 semapv:UnspecifiedMatching +OMIM:606344 POLM skos:exactMatch hgnc.symbol:9185 semapv:UnspecifiedMatching +OMIM:606344 POLM skos:exactMatch hgnc.symbol:POLM semapv:UnspecifiedMatching +OMIM:606344 POLM skos:exactMatch ncbigene:27434 semapv:UnspecifiedMatching +OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:14546 semapv:UnspecifiedMatching +OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:PCDHB16 semapv:UnspecifiedMatching +OMIM:606345 PCDHB16 skos:exactMatch ncbigene:57717 semapv:UnspecifiedMatching +OMIM:606346 deafness, autosomal dominant 22 skos:exactMatch MONDO:0011660 semapv:UnspecifiedMatching +OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:9580 semapv:UnspecifiedMatching +OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:PSTPIP1 semapv:UnspecifiedMatching +OMIM:606347 PSTPIP1 skos:exactMatch ncbigene:9051 semapv:UnspecifiedMatching +OMIM:606348 inflammatory bowel disease 5 skos:exactMatch MONDO:0011661 semapv:UnspecifiedMatching +OMIM:606349 gambling, pathologic skos:exactMatch MONDO:0011662 semapv:UnspecifiedMatching +OMIM:606349 gambling, pathologic skos:exactMatch UMLS:C0030662 semapv:UnspecifiedMatching +OMIM:606350 APTX skos:exactMatch hgnc.symbol:15984 semapv:UnspecifiedMatching +OMIM:606350 APTX skos:exactMatch hgnc.symbol:APTX semapv:UnspecifiedMatching +OMIM:606350 APTX skos:exactMatch ncbigene:54840 semapv:UnspecifiedMatching +OMIM:606351 ESPN skos:exactMatch hgnc.symbol:13281 semapv:UnspecifiedMatching +OMIM:606351 ESPN skos:exactMatch hgnc.symbol:ESPN semapv:UnspecifiedMatching +OMIM:606351 ESPN skos:exactMatch ncbigene:83715 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch UMLS:C1412367 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:443 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:ALS2 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch ncbigene:57679 semapv:UnspecifiedMatching +OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch MONDO:0011663 semapv:UnspecifiedMatching +OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch Orphanet:247604 semapv:UnspecifiedMatching +OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching +OMIM:606355 DDX18 skos:exactMatch UMLS:C1413958 semapv:UnspecifiedMatching +OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:2741 semapv:UnspecifiedMatching +OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:DDX18 semapv:UnspecifiedMatching +OMIM:606355 DDX18 skos:exactMatch ncbigene:8886 semapv:UnspecifiedMatching +OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:30138 semapv:UnspecifiedMatching +OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:TMEM123 semapv:UnspecifiedMatching +OMIM:606356 TMEM123 skos:exactMatch ncbigene:114908 semapv:UnspecifiedMatching +OMIM:606357 DDX21 skos:exactMatch UMLS:C1413961 semapv:UnspecifiedMatching +OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:2744 semapv:UnspecifiedMatching +OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:DDX21 semapv:UnspecifiedMatching +OMIM:606357 DDX21 skos:exactMatch ncbigene:9188 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch UMLS:C1332034 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:328 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:AGR2 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch ncbigene:10551 semapv:UnspecifiedMatching +OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:15983 semapv:UnspecifiedMatching +OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:WNT3A semapv:UnspecifiedMatching +OMIM:606359 WNT3A skos:exactMatch ncbigene:89780 semapv:UnspecifiedMatching +OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:12788 semapv:UnspecifiedMatching +OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:WNT8A semapv:UnspecifiedMatching +OMIM:606360 WNT8A skos:exactMatch ncbigene:7478 semapv:UnspecifiedMatching +OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:16265 semapv:UnspecifiedMatching +OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:WNT5B semapv:UnspecifiedMatching +OMIM:606361 WNT5B skos:exactMatch ncbigene:81029 semapv:UnspecifiedMatching +OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:14376 semapv:UnspecifiedMatching +OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:ACP4 semapv:UnspecifiedMatching +OMIM:606362 ACP4 skos:exactMatch ncbigene:93650 semapv:UnspecifiedMatching +OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:29859 semapv:UnspecifiedMatching +OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:ABI3 semapv:UnspecifiedMatching +OMIM:606363 ABI3 skos:exactMatch ncbigene:51225 semapv:UnspecifiedMatching +OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:29570 semapv:UnspecifiedMatching +OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:GLS2 semapv:UnspecifiedMatching +OMIM:606365 GLS2 skos:exactMatch ncbigene:27165 semapv:UnspecifiedMatching +OMIM:606366 RHOU skos:exactMatch hgnc.symbol:17794 semapv:UnspecifiedMatching +OMIM:606366 RHOU skos:exactMatch hgnc.symbol:RHOU semapv:UnspecifiedMatching +OMIM:606366 RHOU skos:exactMatch ncbigene:58480 semapv:UnspecifiedMatching +OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 semapv:UnspecifiedMatching +OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:17288 semapv:UnspecifiedMatching +OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:APOA5 semapv:UnspecifiedMatching +OMIM:606368 APOA5 skos:exactMatch ncbigene:116519 semapv:UnspecifiedMatching +OMIM:606369 macrocephaly and epileptic encephalopathy skos:exactMatch MONDO:0016532 semapv:UnspecifiedMatching +OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:17358 semapv:UnspecifiedMatching +OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:TPK1 semapv:UnspecifiedMatching +OMIM:606370 TPK1 skos:exactMatch ncbigene:27010 semapv:UnspecifiedMatching +OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:792 semapv:UnspecifiedMatching +OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:ATF7 semapv:UnspecifiedMatching +OMIM:606371 ATF7 skos:exactMatch ncbigene:11016 semapv:UnspecifiedMatching +OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:13800 semapv:UnspecifiedMatching +OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:CHRNA10 semapv:UnspecifiedMatching +OMIM:606372 CHRNA10 skos:exactMatch ncbigene:57053 semapv:UnspecifiedMatching +OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:14074 semapv:UnspecifiedMatching +OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:FMN2 semapv:UnspecifiedMatching +OMIM:606373 FMN2 skos:exactMatch ncbigene:56776 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch UMLS:C1412718 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch UMLS:C4310897 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:923 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:B3GAT3 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch ncbigene:26229 semapv:UnspecifiedMatching +OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:19650 semapv:UnspecifiedMatching +OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:CHST10 semapv:UnspecifiedMatching +OMIM:606376 CHST10 skos:exactMatch ncbigene:9486 semapv:UnspecifiedMatching +OMIM:606377 DHDH skos:exactMatch hgnc.symbol:17887 semapv:UnspecifiedMatching +OMIM:606377 DHDH skos:exactMatch hgnc.symbol:DHDH semapv:UnspecifiedMatching +OMIM:606377 DHDH skos:exactMatch ncbigene:27294 semapv:UnspecifiedMatching +OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:17846 semapv:UnspecifiedMatching +OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:ST6GALNAC4 semapv:UnspecifiedMatching +OMIM:606378 ST6GALNAC4 skos:exactMatch ncbigene:27090 semapv:UnspecifiedMatching +OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:4538 semapv:UnspecifiedMatching +OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:GPR87 semapv:UnspecifiedMatching +OMIM:606379 GPR87 skos:exactMatch ncbigene:53836 semapv:UnspecifiedMatching +OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:4537 semapv:UnspecifiedMatching +OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:P2RY13 semapv:UnspecifiedMatching +OMIM:606380 P2RY13 skos:exactMatch ncbigene:53829 semapv:UnspecifiedMatching +OMIM:606381 SUCNR1 skos:exactMatch UMLS:C1539890 semapv:UnspecifiedMatching +OMIM:606381 SUCNR1 skos:exactMatch hgnc.symbol:4542 semapv:UnspecifiedMatching +OMIM:606381 SUCNR1 skos:exactMatch hgnc.symbol:SUCNR1 semapv:UnspecifiedMatching +OMIM:606381 SUCNR1 skos:exactMatch ncbigene:56670 semapv:UnspecifiedMatching +OMIM:606382 MAGI2 skos:exactMatch hgnc.symbol:18957 semapv:UnspecifiedMatching +OMIM:606382 MAGI2 skos:exactMatch hgnc.symbol:MAGI2 semapv:UnspecifiedMatching +OMIM:606382 MAGI2 skos:exactMatch ncbigene:9863 semapv:UnspecifiedMatching +OMIM:606383 GPR84 skos:exactMatch hgnc.symbol:4535 semapv:UnspecifiedMatching +OMIM:606383 GPR84 skos:exactMatch hgnc.symbol:GPR84 semapv:UnspecifiedMatching +OMIM:606383 GPR84 skos:exactMatch ncbigene:53831 semapv:UnspecifiedMatching +OMIM:606384 NEDD4L skos:exactMatch hgnc.symbol:7728 semapv:UnspecifiedMatching +OMIM:606384 NEDD4L skos:exactMatch hgnc.symbol:NEDD4L semapv:UnspecifiedMatching +OMIM:606384 NEDD4L skos:exactMatch ncbigene:23327 semapv:UnspecifiedMatching +OMIM:606385 OLIG1 skos:exactMatch hgnc.symbol:16983 semapv:UnspecifiedMatching +OMIM:606385 OLIG1 skos:exactMatch hgnc.symbol:OLIG1 semapv:UnspecifiedMatching +OMIM:606385 OLIG1 skos:exactMatch ncbigene:116448 semapv:UnspecifiedMatching +OMIM:606386 OLIG2 skos:exactMatch UMLS:C1418915 semapv:UnspecifiedMatching +OMIM:606386 OLIG2 skos:exactMatch hgnc.symbol:9398 semapv:UnspecifiedMatching +OMIM:606386 OLIG2 skos:exactMatch hgnc.symbol:OLIG2 semapv:UnspecifiedMatching +OMIM:606386 OLIG2 skos:exactMatch ncbigene:10215 semapv:UnspecifiedMatching +OMIM:606387 TOP1MT skos:exactMatch hgnc.symbol:29787 semapv:UnspecifiedMatching +OMIM:606387 TOP1MT skos:exactMatch hgnc.symbol:TOP1MT semapv:UnspecifiedMatching +OMIM:606387 TOP1MT skos:exactMatch ncbigene:116447 semapv:UnspecifiedMatching +OMIM:606388 THEM4 skos:exactMatch hgnc.symbol:17947 semapv:UnspecifiedMatching +OMIM:606388 THEM4 skos:exactMatch hgnc.symbol:THEM4 semapv:UnspecifiedMatching +OMIM:606388 THEM4 skos:exactMatch ncbigene:117145 semapv:UnspecifiedMatching +OMIM:606389 CATSPER1 skos:exactMatch hgnc.symbol:17116 semapv:UnspecifiedMatching +OMIM:606389 CATSPER1 skos:exactMatch hgnc.symbol:CATSPER1 semapv:UnspecifiedMatching +OMIM:606389 CATSPER1 skos:exactMatch ncbigene:117144 semapv:UnspecifiedMatching +OMIM:606391 maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 semapv:UnspecifiedMatching +OMIM:606392 maturity-onset diabetes of the young, iia 4 skos:exactMatch MONDO:0011667 semapv:UnspecifiedMatching +OMIM:606393 ADAMDEC1 skos:exactMatch hgnc.symbol:16299 semapv:UnspecifiedMatching +OMIM:606393 ADAMDEC1 skos:exactMatch hgnc.symbol:ADAMDEC1 semapv:UnspecifiedMatching +OMIM:606393 ADAMDEC1 skos:exactMatch ncbigene:27299 semapv:UnspecifiedMatching +OMIM:606394 maturity-onset diabetes of the young, iia 6 skos:exactMatch MONDO:0011668 semapv:UnspecifiedMatching +OMIM:606395 PREB skos:exactMatch hgnc.symbol:9356 semapv:UnspecifiedMatching +OMIM:606395 PREB skos:exactMatch hgnc.symbol:PREB semapv:UnspecifiedMatching +OMIM:606395 PREB skos:exactMatch ncbigene:10113 semapv:UnspecifiedMatching +OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:1054 semapv:UnspecifiedMatching +OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:BIN3 semapv:UnspecifiedMatching +OMIM:606396 BIN3 skos:exactMatch ncbigene:55909 semapv:UnspecifiedMatching +OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:12605 semapv:UnspecifiedMatching +OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:CLRN1 semapv:UnspecifiedMatching +OMIM:606397 CLRN1 skos:exactMatch ncbigene:7401 semapv:UnspecifiedMatching +OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:790 semapv:UnspecifiedMatching +OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:ATF5 semapv:UnspecifiedMatching +OMIM:606398 ATF5 skos:exactMatch ncbigene:22809 semapv:UnspecifiedMatching +OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:15460 semapv:UnspecifiedMatching +OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:CACNA2D3 semapv:UnspecifiedMatching +OMIM:606399 CACNA2D3 skos:exactMatch ncbigene:55799 semapv:UnspecifiedMatching +OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:1484 semapv:UnspecifiedMatching +OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:CAPN7 semapv:UnspecifiedMatching +OMIM:606400 CAPN7 skos:exactMatch ncbigene:23473 semapv:UnspecifiedMatching +OMIM:606401 CAPN9 skos:exactMatch UMLS:C1413119 semapv:UnspecifiedMatching +OMIM:606401 CAPN9 skos:exactMatch hgnc.symbol:1486 semapv:UnspecifiedMatching +OMIM:606401 CAPN9 skos:exactMatch hgnc.symbol:CAPN9 semapv:UnspecifiedMatching +OMIM:606401 CAPN9 skos:exactMatch ncbigene:10753 semapv:UnspecifiedMatching +OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:23217 semapv:UnspecifiedMatching +OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:GKN1 semapv:UnspecifiedMatching +OMIM:606402 GKN1 skos:exactMatch ncbigene:56287 semapv:UnspecifiedMatching +OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:1407 semapv:UnspecifiedMatching +OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:CACNG3 semapv:UnspecifiedMatching +OMIM:606403 CACNG3 skos:exactMatch ncbigene:10368 semapv:UnspecifiedMatching +OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:1408 semapv:UnspecifiedMatching +OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:CACNG4 semapv:UnspecifiedMatching +OMIM:606404 CACNG4 skos:exactMatch ncbigene:27092 semapv:UnspecifiedMatching +OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:1409 semapv:UnspecifiedMatching +OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:CACNG5 semapv:UnspecifiedMatching +OMIM:606405 CACNG5 skos:exactMatch ncbigene:27091 semapv:UnspecifiedMatching +OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:7909 semapv:UnspecifiedMatching +OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:NPIPA1 semapv:UnspecifiedMatching +OMIM:606406 NPIPA1 skos:exactMatch ncbigene:9284 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch MONDO:0011669 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 semapv:UnspecifiedMatching +OMIM:606408 ehlers-danlos syndrome, classic-like skos:exactMatch MONDO:0011670 semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch UMLS:C1422257 semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch hgnc.symbol:13890 semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch hgnc.symbol:ITCH semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch ncbigene:83737 semapv:UnspecifiedMatching +OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:21014 semapv:UnspecifiedMatching +OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:ANTXR1 semapv:UnspecifiedMatching +OMIM:606410 ANTXR1 skos:exactMatch ncbigene:84168 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch UMLS:C1422640 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch UMLS:C5193068 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch hgnc.symbol:14430 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch hgnc.symbol:SLC13A3 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch ncbigene:64849 semapv:UnspecifiedMatching +OMIM:606412 BSND skos:exactMatch hgnc.symbol:16512 semapv:UnspecifiedMatching +OMIM:606412 BSND skos:exactMatch hgnc.symbol:BSND semapv:UnspecifiedMatching +OMIM:606412 BSND skos:exactMatch ncbigene:7809 semapv:UnspecifiedMatching +OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:6088 semapv:UnspecifiedMatching +OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:INSL5 semapv:UnspecifiedMatching +OMIM:606413 INSL5 skos:exactMatch ncbigene:10022 semapv:UnspecifiedMatching +OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:6089 semapv:UnspecifiedMatching +OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:INSL6 semapv:UnspecifiedMatching +OMIM:606414 INSL6 skos:exactMatch ncbigene:11172 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C0268390 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C0409818 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C1424250 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch UMLS:C4551895 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:16400 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:NLRP3 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch ncbigene:114548 semapv:UnspecifiedMatching +OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:13831 semapv:UnspecifiedMatching +OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:WDR11 semapv:UnspecifiedMatching +OMIM:606417 WDR11 skos:exactMatch ncbigene:55717 semapv:UnspecifiedMatching +OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:2859 semapv:UnspecifiedMatching +OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:DHCR24 semapv:UnspecifiedMatching +OMIM:606418 DHCR24 skos:exactMatch ncbigene:1718 semapv:UnspecifiedMatching +OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:15446 semapv:UnspecifiedMatching +OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:PRPF31 semapv:UnspecifiedMatching +OMIM:606419 PRPF31 skos:exactMatch ncbigene:26121 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch UMLS:C1424154 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:16286 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:ELMO1 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch ncbigene:9844 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch UMLS:C1424843 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch UMLS:C1847197 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:17233 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:ELMO2 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch ncbigene:63916 semapv:UnspecifiedMatching +OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:17289 semapv:UnspecifiedMatching +OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:ELMO3 semapv:UnspecifiedMatching +OMIM:606422 ELMO3 skos:exactMatch ncbigene:79767 semapv:UnspecifiedMatching +OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:15760 semapv:UnspecifiedMatching +OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:DIRC1 semapv:UnspecifiedMatching +OMIM:606423 DIRC1 skos:exactMatch ncbigene:116093 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch UMLS:C1422819 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:14660 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:EGLN2 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch ncbigene:112398 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch UMLS:C1412925 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch UMLS:C1836778 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch UMLS:C1853286 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:1232 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:EGLN1 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch ncbigene:54583 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch UMLS:C1422820 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:14661 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:EGLN3 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch ncbigene:112399 semapv:UnspecifiedMatching +OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:13842 semapv:UnspecifiedMatching +OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:ZNF320 semapv:UnspecifiedMatching +OMIM:606427 ZNF320 skos:exactMatch ncbigene:162967 semapv:UnspecifiedMatching +OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:12535 semapv:UnspecifiedMatching +OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:UGT1A3 semapv:UnspecifiedMatching +OMIM:606428 UGT1A3 skos:exactMatch ncbigene:54659 semapv:UnspecifiedMatching +OMIM:606429 UGT1A4 skos:exactMatch hgnc.symbol:12536 semapv:UnspecifiedMatching +OMIM:606429 UGT1A4 skos:exactMatch hgnc.symbol:UGT1A4 semapv:UnspecifiedMatching +OMIM:606429 UGT1A4 skos:exactMatch ncbigene:54657 semapv:UnspecifiedMatching +OMIM:606430 UGT1A5 skos:exactMatch hgnc.symbol:12537 semapv:UnspecifiedMatching +OMIM:606430 UGT1A5 skos:exactMatch hgnc.symbol:UGT1A5 semapv:UnspecifiedMatching +OMIM:606430 UGT1A5 skos:exactMatch ncbigene:54579 semapv:UnspecifiedMatching +OMIM:606431 UGT1A6 skos:exactMatch hgnc.symbol:12538 semapv:UnspecifiedMatching +OMIM:606431 UGT1A6 skos:exactMatch hgnc.symbol:UGT1A6 semapv:UnspecifiedMatching +OMIM:606431 UGT1A6 skos:exactMatch ncbigene:54578 semapv:UnspecifiedMatching +OMIM:606432 UGT1A7 skos:exactMatch hgnc.symbol:12539 semapv:UnspecifiedMatching +OMIM:606432 UGT1A7 skos:exactMatch hgnc.symbol:UGT1A7 semapv:UnspecifiedMatching +OMIM:606432 UGT1A7 skos:exactMatch ncbigene:54577 semapv:UnspecifiedMatching +OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:12540 semapv:UnspecifiedMatching +OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:UGT1A8 semapv:UnspecifiedMatching +OMIM:606433 UGT1A8 skos:exactMatch ncbigene:54576 semapv:UnspecifiedMatching +OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:12541 semapv:UnspecifiedMatching +OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:UGT1A9 semapv:UnspecifiedMatching +OMIM:606434 UGT1A9 skos:exactMatch ncbigene:54600 semapv:UnspecifiedMatching +OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:12531 semapv:UnspecifiedMatching +OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:UGT1A10 semapv:UnspecifiedMatching +OMIM:606435 UGT1A10 skos:exactMatch ncbigene:54575 semapv:UnspecifiedMatching +OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:18381 semapv:UnspecifiedMatching +OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:SYT12 semapv:UnspecifiedMatching +OMIM:606436 SYT12 skos:exactMatch ncbigene:91683 semapv:UnspecifiedMatching +OMIM:606438 huntington disease-like 2 skos:exactMatch MONDO:0011671 semapv:UnspecifiedMatching +OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:11231 semapv:UnspecifiedMatching +OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:ATL1 semapv:UnspecifiedMatching +OMIM:606439 ATL1 skos:exactMatch ncbigene:51062 semapv:UnspecifiedMatching +OMIM:606440 STRC skos:exactMatch hgnc.symbol:16035 semapv:UnspecifiedMatching +OMIM:606440 STRC skos:exactMatch hgnc.symbol:STRC semapv:UnspecifiedMatching +OMIM:606440 STRC skos:exactMatch ncbigene:161497 semapv:UnspecifiedMatching +OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:14348 semapv:UnspecifiedMatching +OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:HTRA2 semapv:UnspecifiedMatching +OMIM:606441 HTRA2 skos:exactMatch ncbigene:27429 semapv:UnspecifiedMatching +OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:24011 semapv:UnspecifiedMatching +OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:ABI2 semapv:UnspecifiedMatching +OMIM:606442 ABI2 skos:exactMatch ncbigene:10152 semapv:UnspecifiedMatching +OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:2347 semapv:UnspecifiedMatching +OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:CREB3 semapv:UnspecifiedMatching +OMIM:606443 CREB3 skos:exactMatch ncbigene:10488 semapv:UnspecifiedMatching +OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:24905 semapv:UnspecifiedMatching +OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:CREBZF semapv:UnspecifiedMatching +OMIM:606444 CREBZF skos:exactMatch ncbigene:58487 semapv:UnspecifiedMatching +OMIM:606445 persistent polyclonal b-cell lymphocytosis skos:exactMatch MONDO:0011672 semapv:UnspecifiedMatching +OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:21392 semapv:UnspecifiedMatching +OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:SLAMF6 semapv:UnspecifiedMatching +OMIM:606446 SLAMF6 skos:exactMatch ncbigene:114836 semapv:UnspecifiedMatching +OMIM:606447 RNPS1 skos:exactMatch hgnc.symbol:10080 semapv:UnspecifiedMatching +OMIM:606447 RNPS1 skos:exactMatch hgnc.symbol:RNPS1 semapv:UnspecifiedMatching +OMIM:606447 RNPS1 skos:exactMatch ncbigene:10921 semapv:UnspecifiedMatching +OMIM:606448 TXNRD2 skos:exactMatch hgnc.symbol:18155 semapv:UnspecifiedMatching +OMIM:606448 TXNRD2 skos:exactMatch hgnc.symbol:TXNRD2 semapv:UnspecifiedMatching +OMIM:606448 TXNRD2 skos:exactMatch ncbigene:10587 semapv:UnspecifiedMatching +OMIM:606449 PTP4A3 skos:exactMatch hgnc.symbol:9636 semapv:UnspecifiedMatching +OMIM:606449 PTP4A3 skos:exactMatch hgnc.symbol:PTP4A3 semapv:UnspecifiedMatching +OMIM:606449 PTP4A3 skos:exactMatch ncbigene:11156 semapv:UnspecifiedMatching +OMIM:606450 NET1 skos:exactMatch hgnc.symbol:14592 semapv:UnspecifiedMatching +OMIM:606450 NET1 skos:exactMatch hgnc.symbol:NET1 semapv:UnspecifiedMatching +OMIM:606450 NET1 skos:exactMatch ncbigene:10276 semapv:UnspecifiedMatching +OMIM:606451 deafness, autosomal dominant 30 skos:exactMatch MONDO:0011673 semapv:UnspecifiedMatching +OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:29983 semapv:UnspecifiedMatching +OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:ZMAT3 semapv:UnspecifiedMatching +OMIM:606452 ZMAT3 skos:exactMatch ncbigene:64393 semapv:UnspecifiedMatching +OMIM:606453 LRBA skos:exactMatch hgnc.symbol:1742 semapv:UnspecifiedMatching +OMIM:606453 LRBA skos:exactMatch hgnc.symbol:LRBA semapv:UnspecifiedMatching +OMIM:606453 LRBA skos:exactMatch ncbigene:987 semapv:UnspecifiedMatching +OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:3258 semapv:UnspecifiedMatching +OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:EIF2B2 semapv:UnspecifiedMatching +OMIM:606454 EIF2B2 skos:exactMatch ncbigene:8892 semapv:UnspecifiedMatching +OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:14950 semapv:UnspecifiedMatching +OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:PPP1R13B semapv:UnspecifiedMatching +OMIM:606455 PPP1R13B skos:exactMatch ncbigene:23368 semapv:UnspecifiedMatching +OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:7931 semapv:UnspecifiedMatching +OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:NPM3 semapv:UnspecifiedMatching +OMIM:606456 NPM3 skos:exactMatch ncbigene:10360 semapv:UnspecifiedMatching +OMIM:606457 IBTK skos:exactMatch hgnc.symbol:17853 semapv:UnspecifiedMatching +OMIM:606457 IBTK skos:exactMatch hgnc.symbol:IBTK semapv:UnspecifiedMatching +OMIM:606457 IBTK skos:exactMatch ncbigene:25998 semapv:UnspecifiedMatching +OMIM:606458 CSRNP1 skos:exactMatch hgnc.symbol:14300 semapv:UnspecifiedMatching +OMIM:606458 CSRNP1 skos:exactMatch hgnc.symbol:CSRNP1 semapv:UnspecifiedMatching +OMIM:606458 CSRNP1 skos:exactMatch ncbigene:64651 semapv:UnspecifiedMatching +OMIM:606459 OGFR skos:exactMatch hgnc.symbol:15768 semapv:UnspecifiedMatching +OMIM:606459 OGFR skos:exactMatch hgnc.symbol:OGFR semapv:UnspecifiedMatching +OMIM:606459 OGFR skos:exactMatch ncbigene:11054 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch UMLS:C1869126 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:17843 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:TGS1 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch ncbigene:96764 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch UMLS:C1419235 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch UMLS:C1969653 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch UMLS:C5394577 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:9811 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:RAD21 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch ncbigene:5885 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C1414998 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C1847917 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C2676021 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch hgnc.symbol:GBA1 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch ncbigene:2629 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch UMLS:C1423607 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch UMLS:C4016968 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch hgnc.symbol:15598 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch hgnc.symbol:HAMP semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch ncbigene:57817 semapv:UnspecifiedMatching +OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:14536 semapv:UnspecifiedMatching +OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:KLF15 semapv:UnspecifiedMatching +OMIM:606465 KLF15 skos:exactMatch ncbigene:28999 semapv:UnspecifiedMatching +OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:30091 semapv:UnspecifiedMatching +OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:PRAM1 semapv:UnspecifiedMatching +OMIM:606466 PRAM1 skos:exactMatch ncbigene:84106 semapv:UnspecifiedMatching +OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:15471 semapv:UnspecifiedMatching +OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:ALDH8A1 semapv:UnspecifiedMatching +OMIM:606467 ALDH8A1 skos:exactMatch ncbigene:64577 semapv:UnspecifiedMatching +OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:14264 semapv:UnspecifiedMatching +OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:GAR1 semapv:UnspecifiedMatching +OMIM:606468 GAR1 skos:exactMatch ncbigene:54433 semapv:UnspecifiedMatching +OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:14215 semapv:UnspecifiedMatching +OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:TRIM55 semapv:UnspecifiedMatching +OMIM:606469 RNF29 skos:exactMatch ncbigene:84675 semapv:UnspecifiedMatching +OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:14377 semapv:UnspecifiedMatching +OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:NHP2 semapv:UnspecifiedMatching +OMIM:606470 NHP2 skos:exactMatch ncbigene:55651 semapv:UnspecifiedMatching +OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:14378 semapv:UnspecifiedMatching +OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:NOP10 semapv:UnspecifiedMatching +OMIM:606471 NOP10 skos:exactMatch ncbigene:55505 semapv:UnspecifiedMatching +OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:15592 semapv:UnspecifiedMatching +OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:SS18L1 semapv:UnspecifiedMatching +OMIM:606472 SS18L1 skos:exactMatch ncbigene:26039 semapv:UnspecifiedMatching +OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:15593 semapv:UnspecifiedMatching +OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:SS18L2 semapv:UnspecifiedMatching +OMIM:606473 SS18L2 skos:exactMatch ncbigene:51188 semapv:UnspecifiedMatching +OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:16008 semapv:UnspecifiedMatching +OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:TRIM54 semapv:UnspecifiedMatching +OMIM:606474 RNF30 skos:exactMatch ncbigene:57159 semapv:UnspecifiedMatching +OMIM:606475 CD320 skos:exactMatch hgnc.symbol:16692 semapv:UnspecifiedMatching +OMIM:606475 CD320 skos:exactMatch hgnc.symbol:CD320 semapv:UnspecifiedMatching +OMIM:606475 CD320 skos:exactMatch ncbigene:51293 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch UMLS:C1423036 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:14897 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:ITPKC semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch ncbigene:80271 semapv:UnspecifiedMatching +OMIM:606477 SRR skos:exactMatch hgnc.symbol:14398 semapv:UnspecifiedMatching +OMIM:606477 SRR skos:exactMatch hgnc.symbol:SRR semapv:UnspecifiedMatching +OMIM:606477 SRR skos:exactMatch ncbigene:63826 semapv:UnspecifiedMatching +OMIM:606478 POT1 skos:exactMatch hgnc.symbol:17284 semapv:UnspecifiedMatching +OMIM:606478 POT1 skos:exactMatch hgnc.symbol:POT1 semapv:UnspecifiedMatching +OMIM:606478 POT1 skos:exactMatch ncbigene:25913 semapv:UnspecifiedMatching +OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:14290 semapv:UnspecifiedMatching +OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:NLGN2 semapv:UnspecifiedMatching +OMIM:606479 NLGN2 skos:exactMatch ncbigene:57555 semapv:UnspecifiedMatching +OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:12877 semapv:UnspecifiedMatching +OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:ZMPSTE24 semapv:UnspecifiedMatching +OMIM:606480 ZMPSTE24 skos:exactMatch ncbigene:10269 semapv:UnspecifiedMatching +OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:8956 semapv:UnspecifiedMatching +OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:INPP5J semapv:UnspecifiedMatching +OMIM:606481 PIB5PA skos:exactMatch ncbigene:27124 semapv:UnspecifiedMatching +OMIM:606482 charcot-marie-tooth disease, dominant intermediate B skos:exactMatch MONDO:0011674 semapv:UnspecifiedMatching +OMIM:606483 charcot-marie-tooth disease, axonal, iia 2gg skos:exactMatch MONDO:0011675 semapv:UnspecifiedMatching +OMIM:606484 MTPN skos:exactMatch hgnc.symbol:15667 semapv:UnspecifiedMatching +OMIM:606484 MTPN skos:exactMatch hgnc.symbol:MTPN semapv:UnspecifiedMatching +OMIM:606484 MTPN skos:exactMatch ncbigene:136319 semapv:UnspecifiedMatching +OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:14862 semapv:UnspecifiedMatching +OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:POLR2M semapv:UnspecifiedMatching +OMIM:606485 POLR2M skos:exactMatch ncbigene:81488 semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch UMLS:C1538454 semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:24287 semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:CHMP1B semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch ncbigene:57132 semapv:UnspecifiedMatching +OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:14922 semapv:UnspecifiedMatching +OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:PLAAT1 semapv:UnspecifiedMatching +OMIM:606487 PLAAT1 skos:exactMatch ncbigene:57110 semapv:UnspecifiedMatching +OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:28112 semapv:UnspecifiedMatching +OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:EXOSC7 semapv:UnspecifiedMatching +OMIM:606488 EXOSC7 skos:exactMatch ncbigene:23016 semapv:UnspecifiedMatching +OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:17944 semapv:UnspecifiedMatching +OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:EXOSC3 semapv:UnspecifiedMatching +OMIM:606489 EXOSC3 skos:exactMatch ncbigene:51010 semapv:UnspecifiedMatching +OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:19055 semapv:UnspecifiedMatching +OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:EXOSC6 semapv:UnspecifiedMatching +OMIM:606490 EXOSC6 skos:exactMatch ncbigene:118460 semapv:UnspecifiedMatching +OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:18189 semapv:UnspecifiedMatching +OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:EXOSC4 semapv:UnspecifiedMatching +OMIM:606491 EXOSC4 skos:exactMatch ncbigene:54512 semapv:UnspecifiedMatching +OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:24662 semapv:UnspecifiedMatching +OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:EXOSC5 semapv:UnspecifiedMatching +OMIM:606492 EXOSC5 skos:exactMatch ncbigene:56915 semapv:UnspecifiedMatching +OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:17286 semapv:UnspecifiedMatching +OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:EXOSC1 semapv:UnspecifiedMatching +OMIM:606493 EXOSC1 skos:exactMatch ncbigene:51013 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1539861 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1970200 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:10866 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:ST3GAL3 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch ncbigene:6487 semapv:UnspecifiedMatching +OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:13538 semapv:UnspecifiedMatching +OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:MARK4 semapv:UnspecifiedMatching +OMIM:606495 MARK4 skos:exactMatch ncbigene:57787 semapv:UnspecifiedMatching +OMIM:606496 IL17F skos:exactMatch hgnc.symbol:16404 semapv:UnspecifiedMatching +OMIM:606496 IL17F skos:exactMatch hgnc.symbol:IL17F semapv:UnspecifiedMatching +OMIM:606496 IL17F skos:exactMatch ncbigene:112744 semapv:UnspecifiedMatching +OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:13479 semapv:UnspecifiedMatching +OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:UGT2B28 semapv:UnspecifiedMatching +OMIM:606497 UGT2B28 skos:exactMatch ncbigene:54490 semapv:UnspecifiedMatching +OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:7317 semapv:UnspecifiedMatching +OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:MS4A3 semapv:UnspecifiedMatching +OMIM:606498 MS4A3 skos:exactMatch ncbigene:932 semapv:UnspecifiedMatching +OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:13374 semapv:UnspecifiedMatching +OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:MS4A5 semapv:UnspecifiedMatching +OMIM:606499 MS4A5 skos:exactMatch ncbigene:64232 semapv:UnspecifiedMatching +OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:18384 semapv:UnspecifiedMatching +OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:SCGB3A1 semapv:UnspecifiedMatching +OMIM:606500 SCGB3A1 skos:exactMatch ncbigene:92304 semapv:UnspecifiedMatching +OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:18191 semapv:UnspecifiedMatching +OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:MTMR12 semapv:UnspecifiedMatching +OMIM:606501 MTMR12 skos:exactMatch ncbigene:54545 semapv:UnspecifiedMatching +OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:13378 semapv:UnspecifiedMatching +OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:MS4A7 semapv:UnspecifiedMatching +OMIM:606502 MS4A7 skos:exactMatch ncbigene:58475 semapv:UnspecifiedMatching +OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:17287 semapv:UnspecifiedMatching +OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:SUV39H2 semapv:UnspecifiedMatching +OMIM:606503 SUV39H2 skos:exactMatch ncbigene:79723 semapv:UnspecifiedMatching +OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:17040 semapv:UnspecifiedMatching +OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:CASC3 semapv:UnspecifiedMatching +OMIM:606504 CASC3 skos:exactMatch ncbigene:22794 semapv:UnspecifiedMatching +OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:30046 semapv:UnspecifiedMatching +OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:PINX1 semapv:UnspecifiedMatching +OMIM:606505 PINX1 skos:exactMatch ncbigene:54984 semapv:UnspecifiedMatching +OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:18509 semapv:UnspecifiedMatching +OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:FCRL1 semapv:UnspecifiedMatching +OMIM:606508 FCRL1 skos:exactMatch ncbigene:115350 semapv:UnspecifiedMatching +OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:14875 semapv:UnspecifiedMatching +OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:FCRL2 semapv:UnspecifiedMatching +OMIM:606509 FCRL2 skos:exactMatch ncbigene:79368 semapv:UnspecifiedMatching +OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:18506 semapv:UnspecifiedMatching +OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:FCRL3 semapv:UnspecifiedMatching +OMIM:606510 FCRL3 skos:exactMatch ncbigene:115352 semapv:UnspecifiedMatching +OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:6896 semapv:UnspecifiedMatching +OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:MARK1 semapv:UnspecifiedMatching +OMIM:606511 MARK1 skos:exactMatch ncbigene:4139 semapv:UnspecifiedMatching +OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:8570 semapv:UnspecifiedMatching +OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:PACSIN1 semapv:UnspecifiedMatching +OMIM:606512 PACSIN1 skos:exactMatch ncbigene:29993 semapv:UnspecifiedMatching +OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:8572 semapv:UnspecifiedMatching +OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:PACSIN3 semapv:UnspecifiedMatching +OMIM:606513 PACSIN3 skos:exactMatch ncbigene:29763 semapv:UnspecifiedMatching +OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:9505 semapv:UnspecifiedMatching +OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:CYTH4 semapv:UnspecifiedMatching +OMIM:606514 CYTH4 skos:exactMatch ncbigene:27128 semapv:UnspecifiedMatching +OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:10037 semapv:UnspecifiedMatching +OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:RN7SK semapv:UnspecifiedMatching +OMIM:606515 RN7SK skos:exactMatch ncbigene:125050 semapv:UnspecifiedMatching +OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:6923 semapv:UnspecifiedMatching +OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:MBNL1 semapv:UnspecifiedMatching +OMIM:606516 MBNL1 skos:exactMatch ncbigene:4154 semapv:UnspecifiedMatching +OMIM:606517 AHRR skos:exactMatch hgnc.symbol:346 semapv:UnspecifiedMatching +OMIM:606517 AHRR skos:exactMatch hgnc.symbol:AHRR semapv:UnspecifiedMatching +OMIM:606517 AHRR skos:exactMatch ncbigene:57491 semapv:UnspecifiedMatching +OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:17866 semapv:UnspecifiedMatching +OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:HAVCR1 semapv:UnspecifiedMatching +OMIM:606518 HAVCR1 skos:exactMatch ncbigene:26762 semapv:UnspecifiedMatching +OMIM:606519 phace association skos:exactMatch MONDO:0011676 semapv:UnspecifiedMatching +OMIM:606519 phace association skos:exactMatch Orphanet:42775 semapv:UnspecifiedMatching +OMIM:606519 phace association skos:exactMatch UMLS:C1847874 semapv:UnspecifiedMatching +OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:13937 semapv:UnspecifiedMatching +OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:MPIG6B semapv:UnspecifiedMatching +OMIM:606520 MPIG6B skos:exactMatch ncbigene:80739 semapv:UnspecifiedMatching +OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:14409 semapv:UnspecifiedMatching +OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:SLC25A19 semapv:UnspecifiedMatching +OMIM:606521 SLC25A19 skos:exactMatch ncbigene:60386 semapv:UnspecifiedMatching +OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:4218 semapv:UnspecifiedMatching +OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:GDF3 semapv:UnspecifiedMatching +OMIM:606522 GDF3 skos:exactMatch ncbigene:9573 semapv:UnspecifiedMatching +OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:17382 semapv:UnspecifiedMatching +OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:SRGAP1 semapv:UnspecifiedMatching +OMIM:606523 SRGAP1 skos:exactMatch ncbigene:57522 semapv:UnspecifiedMatching +OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:19751 semapv:UnspecifiedMatching +OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:SRGAP2 semapv:UnspecifiedMatching +OMIM:606524 SRGAP2 skos:exactMatch ncbigene:23380 semapv:UnspecifiedMatching +OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:19744 semapv:UnspecifiedMatching +OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:SRGAP3 semapv:UnspecifiedMatching +OMIM:606525 SRGAP3 skos:exactMatch ncbigene:9901 semapv:UnspecifiedMatching +OMIM:606526 MLPH skos:exactMatch hgnc.symbol:29643 semapv:UnspecifiedMatching +OMIM:606526 MLPH skos:exactMatch hgnc.symbol:MLPH semapv:UnspecifiedMatching +OMIM:606526 MLPH skos:exactMatch ncbigene:79083 semapv:UnspecifiedMatching +OMIM:606527 megarbane syndrome skos:exactMatch MONDO:0011677 semapv:UnspecifiedMatching +OMIM:606528 homozygous 11p15-p14 deletion syndrome skos:exactMatch MONDO:0011678 semapv:UnspecifiedMatching +OMIM:606529 craniosynostosis syndrome, autosomal recessive skos:exactMatch MONDO:0011679 semapv:UnspecifiedMatching +OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:2605 semapv:UnspecifiedMatching +OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:CYP27A1 semapv:UnspecifiedMatching +OMIM:606530 CYP27A1 skos:exactMatch ncbigene:1593 semapv:UnspecifiedMatching +OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:18391 semapv:UnspecifiedMatching +OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:SCGB3A2 semapv:UnspecifiedMatching +OMIM:606531 SCGB3A2 skos:exactMatch ncbigene:117156 semapv:UnspecifiedMatching +OMIM:606532 HUNK skos:exactMatch hgnc.symbol:13326 semapv:UnspecifiedMatching +OMIM:606532 HUNK skos:exactMatch hgnc.symbol:HUNK semapv:UnspecifiedMatching +OMIM:606532 HUNK skos:exactMatch ncbigene:30811 semapv:UnspecifiedMatching +OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:2064 semapv:UnspecifiedMatching +OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:CLIC3 semapv:UnspecifiedMatching +OMIM:606533 CLIC3 skos:exactMatch ncbigene:9022 semapv:UnspecifiedMatching +OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:17450 semapv:UnspecifiedMatching +OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:CYP3A43 semapv:UnspecifiedMatching +OMIM:606534 CYP3A43 skos:exactMatch ncbigene:64816 semapv:UnspecifiedMatching +OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:7554 semapv:UnspecifiedMatching +OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:MYCBP semapv:UnspecifiedMatching +OMIM:606535 MYCBP skos:exactMatch ncbigene:26292 semapv:UnspecifiedMatching +OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:13518 semapv:UnspecifiedMatching +OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:CLIC4 semapv:UnspecifiedMatching +OMIM:606536 CLIC4 skos:exactMatch ncbigene:25932 semapv:UnspecifiedMatching +OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:7596 semapv:UnspecifiedMatching +OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:MYO1B semapv:UnspecifiedMatching +OMIM:606537 MYO1B skos:exactMatch ncbigene:4430 semapv:UnspecifiedMatching +OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:7597 semapv:UnspecifiedMatching +OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:MYO1C semapv:UnspecifiedMatching +OMIM:606538 MYO1C skos:exactMatch ncbigene:4641 semapv:UnspecifiedMatching +OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:7598 semapv:UnspecifiedMatching +OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:MYO1D semapv:UnspecifiedMatching +OMIM:606539 MYO1D skos:exactMatch ncbigene:4642 semapv:UnspecifiedMatching +OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:7603 semapv:UnspecifiedMatching +OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:MYO5B semapv:UnspecifiedMatching +OMIM:606540 MYO5B skos:exactMatch ncbigene:4645 semapv:UnspecifiedMatching +OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:7607 semapv:UnspecifiedMatching +OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:MYO7B semapv:UnspecifiedMatching +OMIM:606541 MYO7B skos:exactMatch ncbigene:4648 semapv:UnspecifiedMatching +OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:14067 semapv:UnspecifiedMatching +OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:HDAC7 semapv:UnspecifiedMatching +OMIM:606542 HDAC7A skos:exactMatch ncbigene:51564 semapv:UnspecifiedMatching +OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:14065 semapv:UnspecifiedMatching +OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:HDAC9 semapv:UnspecifiedMatching +OMIM:606543 HDAC9 skos:exactMatch ncbigene:9734 semapv:UnspecifiedMatching +OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:29682 semapv:UnspecifiedMatching +OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:GFM2 semapv:UnspecifiedMatching +OMIM:606544 GFM2 skos:exactMatch ncbigene:84340 semapv:UnspecifiedMatching +OMIM:606545 ichthyosis, congenital, autosomal recessive 3 skos:exactMatch MONDO:0011680 semapv:UnspecifiedMatching +OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:5326 semapv:UnspecifiedMatching +OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:HYMAI semapv:UnspecifiedMatching +OMIM:606546 HYMAI skos:exactMatch ncbigene:57061 semapv:UnspecifiedMatching +OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:13371 semapv:UnspecifiedMatching +OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:MS4A4A semapv:UnspecifiedMatching +OMIM:606547 MS4A4A skos:exactMatch ncbigene:51338 semapv:UnspecifiedMatching +OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:13375 semapv:UnspecifiedMatching +OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:MS4A6A semapv:UnspecifiedMatching +OMIM:606548 MS4A6A skos:exactMatch ncbigene:64231 semapv:UnspecifiedMatching +OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:13380 semapv:UnspecifiedMatching +OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:MS4A8 semapv:UnspecifiedMatching +OMIM:606549 MS4A8B skos:exactMatch ncbigene:83661 semapv:UnspecifiedMatching +OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:13370 semapv:UnspecifiedMatching +OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:MS4A12 semapv:UnspecifiedMatching +OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch ncbigene:54860 semapv:UnspecifiedMatching +OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:13861 semapv:UnspecifiedMatching +OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:LZTS1 semapv:UnspecifiedMatching +OMIM:606551 LZTS1 skos:exactMatch ncbigene:11178 semapv:UnspecifiedMatching +OMIM:606552 episodic ataxia, iia 4 skos:exactMatch MONDO:0011681 semapv:UnspecifiedMatching +OMIM:606553 SLC9A3R2 skos:exactMatch hgnc.symbol:NHERF2 semapv:UnspecifiedMatching +OMIM:606553 SLC9A3R2 skos:exactMatch ncbigene:9351 semapv:UnspecifiedMatching +OMIM:606554 episodic ataxia, iia 3 skos:exactMatch MONDO:0011682 semapv:UnspecifiedMatching +OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:16288 semapv:UnspecifiedMatching +OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:TRIM9 semapv:UnspecifiedMatching +OMIM:606555 TRIM9 skos:exactMatch ncbigene:114088 semapv:UnspecifiedMatching +OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:16283 semapv:UnspecifiedMatching +OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:TRIM14 semapv:UnspecifiedMatching +OMIM:606556 TRIM14 skos:exactMatch ncbigene:9830 semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch UMLS:C1421886 semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch UMLS:C4310833 semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:13221 semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:BCL11A semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch ncbigene:53335 semapv:UnspecifiedMatching +OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:13222 semapv:UnspecifiedMatching +OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:BCL11B semapv:UnspecifiedMatching +OMIM:606558 BCL11B skos:exactMatch ncbigene:64919 semapv:UnspecifiedMatching +OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:16379 semapv:UnspecifiedMatching +OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:TRIM22 semapv:UnspecifiedMatching +OMIM:606559 TRIM22 skos:exactMatch ncbigene:10346 semapv:UnspecifiedMatching +OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:14534 semapv:UnspecifiedMatching +OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:SPAG11B semapv:UnspecifiedMatching +OMIM:606560 SPAG11B skos:exactMatch ncbigene:10407 semapv:UnspecifiedMatching +OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:18761 semapv:UnspecifiedMatching +OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:SLC36A1 semapv:UnspecifiedMatching +OMIM:606561 SLC36A1 skos:exactMatch ncbigene:206358 semapv:UnspecifiedMatching +OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:11860 semapv:UnspecifiedMatching +OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:TM6SF1 semapv:UnspecifiedMatching +OMIM:606562 TM6SF1 skos:exactMatch ncbigene:53346 semapv:UnspecifiedMatching +OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:11861 semapv:UnspecifiedMatching +OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:TM6SF2 semapv:UnspecifiedMatching +OMIM:606563 TM6SF2 skos:exactMatch ncbigene:53345 semapv:UnspecifiedMatching +OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:14107 semapv:UnspecifiedMatching +OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:PMEPA1 semapv:UnspecifiedMatching +OMIM:606564 PMEPA1 skos:exactMatch ncbigene:56937 semapv:UnspecifiedMatching +OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:11878 semapv:UnspecifiedMatching +OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:TMPRSS4 semapv:UnspecifiedMatching +OMIM:606565 TMPRSS4 skos:exactMatch ncbigene:56649 semapv:UnspecifiedMatching +OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:16243 semapv:UnspecifiedMatching +OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:MYLK2 semapv:UnspecifiedMatching +OMIM:606566 MYLK2 skos:exactMatch ncbigene:85366 semapv:UnspecifiedMatching +OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:11856 semapv:UnspecifiedMatching +OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:TM4SF4 semapv:UnspecifiedMatching +OMIM:606567 TM4SF4 skos:exactMatch ncbigene:7104 semapv:UnspecifiedMatching +OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:6741 semapv:UnspecifiedMatching +OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:LZTFL1 semapv:UnspecifiedMatching +OMIM:606568 LZTFL1 skos:exactMatch ncbigene:54585 semapv:UnspecifiedMatching +OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:17059 semapv:UnspecifiedMatching +OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:SACM1L semapv:UnspecifiedMatching +OMIM:606569 SACM1L skos:exactMatch ncbigene:22908 semapv:UnspecifiedMatching +OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:10778 semapv:UnspecifiedMatching +OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:SFRP4 semapv:UnspecifiedMatching +OMIM:606570 SFRP4 skos:exactMatch ncbigene:6424 semapv:UnspecifiedMatching +OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:1224 semapv:UnspecifiedMatching +OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:LDLRAD4 semapv:UnspecifiedMatching +OMIM:606571 LDLRAD4 skos:exactMatch ncbigene:753 semapv:UnspecifiedMatching +OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:14874 semapv:UnspecifiedMatching +OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:NOX5 semapv:UnspecifiedMatching +OMIM:606572 NOX5 skos:exactMatch ncbigene:79400 semapv:UnspecifiedMatching +OMIM:606573 FRK skos:exactMatch hgnc.symbol:3955 semapv:UnspecifiedMatching +OMIM:606573 FRK skos:exactMatch hgnc.symbol:FRK semapv:UnspecifiedMatching +OMIM:606573 FRK skos:exactMatch ncbigene:2444 semapv:UnspecifiedMatching +OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch MONDO:0011683 semapv:UnspecifiedMatching +OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch Orphanet:79435 semapv:UnspecifiedMatching +OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching +OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:13680 semapv:UnspecifiedMatching +OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:MPP4 semapv:UnspecifiedMatching +OMIM:606575 MPP4 skos:exactMatch ncbigene:58538 semapv:UnspecifiedMatching +OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:17303 semapv:UnspecifiedMatching +OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:TAF3 semapv:UnspecifiedMatching +OMIM:606576 TAF3 skos:exactMatch ncbigene:83860 semapv:UnspecifiedMatching +OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:17329 semapv:UnspecifiedMatching +OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:SLA2 semapv:UnspecifiedMatching +OMIM:606577 SLA2 skos:exactMatch ncbigene:84174 semapv:UnspecifiedMatching +OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:16029 semapv:UnspecifiedMatching +OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:AQP10 semapv:UnspecifiedMatching +OMIM:606578 AQP10 skos:exactMatch ncbigene:89872 semapv:UnspecifiedMatching +OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch MONDO:0011684 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch UMLS:C1417955 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:8142 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:OPA3 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch ncbigene:80207 semapv:UnspecifiedMatching +OMIM:606581 polysubstance abuse, susceptibility to skos:exactMatch MONDO:0011685 semapv:UnspecifiedMatching +OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:2908 semapv:UnspecifiedMatching +OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:DLL1 semapv:UnspecifiedMatching +OMIM:606582 DLL1 skos:exactMatch ncbigene:28514 semapv:UnspecifiedMatching +OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:9355 semapv:UnspecifiedMatching +OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:PRDX5 semapv:UnspecifiedMatching +OMIM:606583 PRDX5 skos:exactMatch ncbigene:25824 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C1422626 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394578 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394579 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394580 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:14406 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:PTPN23 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch ncbigene:25930 semapv:UnspecifiedMatching +OMIM:606585 ENAM skos:exactMatch hgnc.symbol:3344 semapv:UnspecifiedMatching +OMIM:606585 ENAM skos:exactMatch hgnc.symbol:ENAM semapv:UnspecifiedMatching +OMIM:606585 ENAM skos:exactMatch ncbigene:10117 semapv:UnspecifiedMatching +OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:14873 semapv:UnspecifiedMatching +OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:RAI14 semapv:UnspecifiedMatching +OMIM:606586 RAI14 skos:exactMatch ncbigene:26064 semapv:UnspecifiedMatching +OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:9649 semapv:UnspecifiedMatching +OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:PTPN18 semapv:UnspecifiedMatching +OMIM:606587 PTPN18 skos:exactMatch ncbigene:26469 semapv:UnspecifiedMatching +OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:2980 semapv:UnspecifiedMatching +OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:DNMT3L semapv:UnspecifiedMatching +OMIM:606588 DNMT3L skos:exactMatch ncbigene:29947 semapv:UnspecifiedMatching +OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:21335 semapv:UnspecifiedMatching +OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:SNX13 semapv:UnspecifiedMatching +OMIM:606589 SNX13 skos:exactMatch ncbigene:23161 semapv:UnspecifiedMatching +OMIM:606590 NPLOC4 skos:exactMatch UMLS:C1826464 semapv:UnspecifiedMatching +OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:18261 semapv:UnspecifiedMatching +OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:NPLOC4 semapv:UnspecifiedMatching +OMIM:606590 NPLOC4 skos:exactMatch ncbigene:55666 semapv:UnspecifiedMatching +OMIM:606591 MUS81 skos:exactMatch hgnc.symbol:29814 semapv:UnspecifiedMatching +OMIM:606591 MUS81 skos:exactMatch hgnc.symbol:MUS81 semapv:UnspecifiedMatching +OMIM:606591 MUS81 skos:exactMatch ncbigene:80198 semapv:UnspecifiedMatching +OMIM:606592 VNN3 skos:exactMatch hgnc.symbol:16431 semapv:UnspecifiedMatching +OMIM:606592 VNN3 skos:exactMatch hgnc.symbol:VNN3P semapv:UnspecifiedMatching +OMIM:606592 VNN3 skos:exactMatch ncbigene:55350 semapv:UnspecifiedMatching +OMIM:606593 lig4 syndrome skos:exactMatch MONDO:0011686 semapv:UnspecifiedMatching +OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:30412 semapv:UnspecifiedMatching +OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:SETD7 semapv:UnspecifiedMatching +OMIM:606594 SETD7 skos:exactMatch ncbigene:80854 semapv:UnspecifiedMatching +OMIM:606595 charcot-marie-tooth disease, axonal, iia 2f skos:exactMatch MONDO:0011687 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C1425226 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C4016970 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch UMLS:C4016971 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch hgnc.symbol:17997 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch hgnc.symbol:FKRP semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch ncbigene:79147 semapv:UnspecifiedMatching +OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:8617 semapv:UnspecifiedMatching +OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:PAX3 semapv:UnspecifiedMatching +OMIM:606597 PAX3 skos:exactMatch ncbigene:5077 semapv:UnspecifiedMatching +OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:15968 semapv:UnspecifiedMatching +OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:GDAP1 semapv:UnspecifiedMatching +OMIM:606598 GDAP1 skos:exactMatch ncbigene:54332 semapv:UnspecifiedMatching +OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:16952 semapv:UnspecifiedMatching +OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:TXNIP semapv:UnspecifiedMatching +OMIM:606599 TXNIP skos:exactMatch ncbigene:10628 semapv:UnspecifiedMatching +OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:9875 semapv:UnspecifiedMatching +OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:RASGRF1 semapv:UnspecifiedMatching +OMIM:606600 RASGRF1 skos:exactMatch ncbigene:5923 semapv:UnspecifiedMatching +OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:14602 semapv:UnspecifiedMatching +OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:ERVE-1 semapv:UnspecifiedMatching +OMIM:606601 ERVE1 skos:exactMatch ncbigene:85314 semapv:UnspecifiedMatching +OMIM:606602 BAALC skos:exactMatch hgnc.symbol:14333 semapv:UnspecifiedMatching +OMIM:606602 BAALC skos:exactMatch hgnc.symbol:BAALC semapv:UnspecifiedMatching +OMIM:606602 BAALC skos:exactMatch ncbigene:79870 semapv:UnspecifiedMatching +OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:14341 semapv:UnspecifiedMatching +OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:EDARADD semapv:UnspecifiedMatching +OMIM:606603 EDARADD skos:exactMatch ncbigene:128178 semapv:UnspecifiedMatching +OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:16731 semapv:UnspecifiedMatching +OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:FBXO32 semapv:UnspecifiedMatching +OMIM:606604 FBXO32 skos:exactMatch ncbigene:114907 semapv:UnspecifiedMatching +OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:33499 semapv:UnspecifiedMatching +OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:ATRIP semapv:UnspecifiedMatching +OMIM:606605 ATRIP skos:exactMatch ncbigene:84126 semapv:UnspecifiedMatching +OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:9536 semapv:UnspecifiedMatching +OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:PSMA7 semapv:UnspecifiedMatching +OMIM:606607 PSMA7 skos:exactMatch ncbigene:5688 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch UMLS:C1424135 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch UMLS:C3805432 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:16262 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:YAP1 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch ncbigene:10413 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch UMLS:C0024145 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch UMLS:C0796126 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch UMLS:C1336670 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch UMLS:C1860518 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch UMLS:C3150315 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:12269 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:TREX1 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch ncbigene:11277 semapv:UnspecifiedMatching +OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:15912 semapv:UnspecifiedMatching +OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:NSFL1C semapv:UnspecifiedMatching +OMIM:606610 NSFL1C skos:exactMatch ncbigene:55968 semapv:UnspecifiedMatching +OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:31702 semapv:UnspecifiedMatching +OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:DEFB103B semapv:UnspecifiedMatching +OMIM:606611 DEFB103A skos:exactMatch ncbigene:55894 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch MONDO:0011688 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:52428 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching +OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:9876 semapv:UnspecifiedMatching +OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:RASGRF2 semapv:UnspecifiedMatching +OMIM:606614 RASGRF2 skos:exactMatch ncbigene:5924 semapv:UnspecifiedMatching +OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:17113 semapv:UnspecifiedMatching +OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:HIF1AN semapv:UnspecifiedMatching +OMIM:606615 HIF1AN skos:exactMatch ncbigene:55662 semapv:UnspecifiedMatching +OMIM:606616 dyslexia, susceptibility to, 6 skos:exactMatch MONDO:0011689 semapv:UnspecifiedMatching +OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:17007 semapv:UnspecifiedMatching +OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:DUSP14 semapv:UnspecifiedMatching +OMIM:606618 DUSP14 skos:exactMatch ncbigene:11072 semapv:UnspecifiedMatching +OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:19069 semapv:UnspecifiedMatching +OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:GBA3 semapv:UnspecifiedMatching +OMIM:606619 GBA3 skos:exactMatch ncbigene:57733 semapv:UnspecifiedMatching +OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:21391 semapv:UnspecifiedMatching +OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:SLAMF8 semapv:UnspecifiedMatching +OMIM:606620 SLAMF8 skos:exactMatch ncbigene:56833 semapv:UnspecifiedMatching +OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:17367 semapv:UnspecifiedMatching +OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:IFT57 semapv:UnspecifiedMatching +OMIM:606621 IFT57 skos:exactMatch ncbigene:55081 semapv:UnspecifiedMatching +OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:11102 semapv:UnspecifiedMatching +OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:SMARCAL1 semapv:UnspecifiedMatching +OMIM:606622 SMARCAL1 skos:exactMatch ncbigene:50485 semapv:UnspecifiedMatching +OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:23316 semapv:UnspecifiedMatching +OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:HSD17B6 semapv:UnspecifiedMatching +OMIM:606623 HSD17B6 skos:exactMatch ncbigene:8630 semapv:UnspecifiedMatching +OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:13805 semapv:UnspecifiedMatching +OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:NEUROG2 semapv:UnspecifiedMatching +OMIM:606624 NEUROG2 skos:exactMatch ncbigene:63973 semapv:UnspecifiedMatching +OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:21394 semapv:UnspecifiedMatching +OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:SLAMF7 semapv:UnspecifiedMatching +OMIM:606625 SLAMF7 skos:exactMatch ncbigene:57823 semapv:UnspecifiedMatching +OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:18142 semapv:UnspecifiedMatching +OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:DAAM1 semapv:UnspecifiedMatching +OMIM:606626 DAAM1 skos:exactMatch ncbigene:23002 semapv:UnspecifiedMatching +OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:18143 semapv:UnspecifiedMatching +OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:DAAM2 semapv:UnspecifiedMatching +OMIM:606627 DAAM2 skos:exactMatch ncbigene:23500 semapv:UnspecifiedMatching +OMIM:606628 GNMT skos:exactMatch hgnc.symbol:4415 semapv:UnspecifiedMatching +OMIM:606628 GNMT skos:exactMatch hgnc.symbol:GNMT semapv:UnspecifiedMatching +OMIM:606628 GNMT skos:exactMatch ncbigene:27232 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch UMLS:C1424873 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch UMLS:C1863634 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:17282 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:RIMS1 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch ncbigene:22999 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch UMLS:C1424874 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:17283 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:RIMS2 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch ncbigene:9699 semapv:UnspecifiedMatching +OMIM:606631 camurati-engelmann disease, iia 2 skos:exactMatch MONDO:0011690 semapv:UnspecifiedMatching +OMIM:606633 SP7 skos:exactMatch hgnc.symbol:17321 semapv:UnspecifiedMatching +OMIM:606633 SP7 skos:exactMatch hgnc.symbol:SP7 semapv:UnspecifiedMatching +OMIM:606633 SP7 skos:exactMatch ncbigene:121340 semapv:UnspecifiedMatching +OMIM:606634 DCD skos:exactMatch hgnc.symbol:14669 semapv:UnspecifiedMatching +OMIM:606634 DCD skos:exactMatch hgnc.symbol:DCD semapv:UnspecifiedMatching +OMIM:606634 DCD skos:exactMatch ncbigene:117159 semapv:UnspecifiedMatching +OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:9490 semapv:UnspecifiedMatching +OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:TMPRSS15 semapv:UnspecifiedMatching +OMIM:606635 TMPRSS15 skos:exactMatch ncbigene:5651 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch UMLS:C1826435 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch UMLS:C1847835 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch UMLS:C4479278 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:14374 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:NLRP1 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch ncbigene:22861 semapv:UnspecifiedMatching +OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:9749 semapv:UnspecifiedMatching +OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:PYY2 semapv:UnspecifiedMatching +OMIM:606637 PYY2 skos:exactMatch ncbigene:23615 semapv:UnspecifiedMatching +OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:9328 semapv:UnspecifiedMatching +OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:PPY2P semapv:UnspecifiedMatching +OMIM:606638 PPY2 skos:exactMatch ncbigene:23614 semapv:UnspecifiedMatching +OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:13780 semapv:UnspecifiedMatching +OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:GFM1 semapv:UnspecifiedMatching +OMIM:606639 GFM1 skos:exactMatch ncbigene:85476 semapv:UnspecifiedMatching +OMIM:606640 amyotrophic lateral sclerosis 3 skos:exactMatch MONDO:0011691 semapv:UnspecifiedMatching +OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:17813 semapv:UnspecifiedMatching +OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching +OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching +OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching +OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching +OMIM:606645 CENTD1 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching +OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching +OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching +OMIM:606646 CENTD2 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching +OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:24097 semapv:UnspecifiedMatching +OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:ARAP3 semapv:UnspecifiedMatching +OMIM:606647 CENTD3 skos:exactMatch ncbigene:64411 semapv:UnspecifiedMatching +OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:14901 semapv:UnspecifiedMatching +OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:IL22RA2 semapv:UnspecifiedMatching +OMIM:606648 IL22RA2 skos:exactMatch ncbigene:116379 semapv:UnspecifiedMatching +OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:13561 semapv:UnspecifiedMatching +OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:HIVEP3 semapv:UnspecifiedMatching +OMIM:606649 HIVEP3 skos:exactMatch ncbigene:59269 semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch UMLS:C1424528 semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:16767 semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:GRIN3A semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch ncbigene:116443 semapv:UnspecifiedMatching +OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:16768 semapv:UnspecifiedMatching +OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:GRIN3B semapv:UnspecifiedMatching +OMIM:606651 GRIN3B skos:exactMatch ncbigene:116444 semapv:UnspecifiedMatching +OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:18437 semapv:UnspecifiedMatching +OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:HAVCR2 semapv:UnspecifiedMatching +OMIM:606652 HAVCR2 skos:exactMatch ncbigene:84868 semapv:UnspecifiedMatching +OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:19719 semapv:UnspecifiedMatching +OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:LGR6 semapv:UnspecifiedMatching +OMIM:606653 LGR6 skos:exactMatch ncbigene:59352 semapv:UnspecifiedMatching +OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:19718 semapv:UnspecifiedMatching +OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:RXFP1 semapv:UnspecifiedMatching +OMIM:606654 RXFP1 skos:exactMatch ncbigene:59350 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch UMLS:C1424898 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:17318 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:RXFP2 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch ncbigene:122042 semapv:UnspecifiedMatching +OMIM:606657 glaucoma, normal tension, susceptibility to skos:exactMatch MONDO:0011693 semapv:UnspecifiedMatching +OMIM:606658 spinocerebellar ataxia 15 skos:exactMatch MONDO:0011694 semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch UMLS:C1420741 semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:11818 semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:TIMM8B semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch ncbigene:26521 semapv:UnspecifiedMatching +OMIM:606660 melanoma, uveal, susceptibility to, 1 skos:exactMatch MONDO:0011695 semapv:UnspecifiedMatching +OMIM:606661 melanoma, uveal, susceptibility to, 2 skos:exactMatch MONDO:0011696 semapv:UnspecifiedMatching +OMIM:606662 waardenburg syndrome, iia 2c skos:exactMatch MONDO:0011697 semapv:UnspecifiedMatching +OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:6666 semapv:UnspecifiedMatching +OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:LOXL2 semapv:UnspecifiedMatching +OMIM:606663 LOXL2 skos:exactMatch ncbigene:4017 semapv:UnspecifiedMatching +OMIM:606664 glycine n-methyltransferase deficiency skos:exactMatch MONDO:0011698 semapv:UnspecifiedMatching +OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:14449 semapv:UnspecifiedMatching +OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:OPN4 semapv:UnspecifiedMatching +OMIM:606665 OPN4 skos:exactMatch ncbigene:94233 semapv:UnspecifiedMatching +OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:13299 semapv:UnspecifiedMatching +OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:LGR4 semapv:UnspecifiedMatching +OMIM:606666 LGR4 skos:exactMatch ncbigene:55366 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch UMLS:C1537570 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:4504 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:LGR5 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch ncbigene:8549 semapv:UnspecifiedMatching +OMIM:606668 inflammatory bowel disease 8 skos:exactMatch MONDO:0011699 semapv:UnspecifiedMatching +OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:4029 semapv:UnspecifiedMatching +OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:FXYD5 semapv:UnspecifiedMatching +OMIM:606669 FXYD5 skos:exactMatch ncbigene:53827 semapv:UnspecifiedMatching +OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:9285 semapv:UnspecifiedMatching +OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:PPP1R11 semapv:UnspecifiedMatching +OMIM:606670 PPP1R11 skos:exactMatch ncbigene:6992 semapv:UnspecifiedMatching +OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:15486 semapv:UnspecifiedMatching +OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:NCKIPSD semapv:UnspecifiedMatching +OMIM:606671 NCKIPSD skos:exactMatch ncbigene:51517 semapv:UnspecifiedMatching +OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:4439 semapv:UnspecifiedMatching +OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:GP1BA semapv:UnspecifiedMatching +OMIM:606672 GP1BA skos:exactMatch ncbigene:2811 semapv:UnspecifiedMatching +OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:16297 semapv:UnspecifiedMatching +OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:UPB1 semapv:UnspecifiedMatching +OMIM:606673 UPB1 skos:exactMatch ncbigene:51733 semapv:UnspecifiedMatching +OMIM:606674 inflammatory bowel disease 6 skos:exactMatch MONDO:0011700 semapv:UnspecifiedMatching +OMIM:606675 inflammatory bowel disease 4 skos:exactMatch MONDO:0011701 semapv:UnspecifiedMatching +OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:18082 semapv:UnspecifiedMatching +OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:TRPV2 semapv:UnspecifiedMatching +OMIM:606676 TRPV2 skos:exactMatch ncbigene:51393 semapv:UnspecifiedMatching +OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:13258 semapv:UnspecifiedMatching +OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:CLEC4C semapv:UnspecifiedMatching +OMIM:606677 CLEC4C skos:exactMatch ncbigene:170482 semapv:UnspecifiedMatching +OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:17961 semapv:UnspecifiedMatching +OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:TRPM8 semapv:UnspecifiedMatching +OMIM:606678 TRPM8 skos:exactMatch ncbigene:79054 semapv:UnspecifiedMatching +OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:3145 semapv:UnspecifiedMatching +OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:TRPV5 semapv:UnspecifiedMatching +OMIM:606679 TRPV5 skos:exactMatch ncbigene:56302 semapv:UnspecifiedMatching +OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:14006 semapv:UnspecifiedMatching +OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:TRPV6 semapv:UnspecifiedMatching +OMIM:606680 TRPV6 skos:exactMatch ncbigene:55503 semapv:UnspecifiedMatching +OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:14234 semapv:UnspecifiedMatching +OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:NSD1 semapv:UnspecifiedMatching +OMIM:606681 NSD1 skos:exactMatch ncbigene:64324 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch UMLS:C1423767 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:15844 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:HPS4 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch ncbigene:89781 semapv:UnspecifiedMatching +OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:4030 semapv:UnspecifiedMatching +OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:FXYD6 semapv:UnspecifiedMatching +OMIM:606683 FXYD6 skos:exactMatch ncbigene:53826 semapv:UnspecifiedMatching +OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:4034 semapv:UnspecifiedMatching +OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:FXYD7 semapv:UnspecifiedMatching +OMIM:606684 FXYD7 skos:exactMatch ncbigene:53822 semapv:UnspecifiedMatching +OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch MONDO:0011702 semapv:UnspecifiedMatching +OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch UMLS:C1847667 semapv:UnspecifiedMatching +OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:3257 semapv:UnspecifiedMatching +OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:EIF2B1 semapv:UnspecifiedMatching +OMIM:606686 EIF2B1 skos:exactMatch ncbigene:1967 semapv:UnspecifiedMatching +OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:3260 semapv:UnspecifiedMatching +OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:EIF2B4 semapv:UnspecifiedMatching +OMIM:606687 EIF2B4 skos:exactMatch ncbigene:8890 semapv:UnspecifiedMatching +OMIM:606688 spongiform encephalopathy with neuropsychiatric features skos:exactMatch MONDO:0011703 semapv:UnspecifiedMatching +OMIM:606689 glaucoma 1, open angle, B skos:exactMatch MONDO:0011704 semapv:UnspecifiedMatching +OMIM:606690 lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 semapv:UnspecifiedMatching +OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:31951 semapv:UnspecifiedMatching +OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:CEACAM19 semapv:UnspecifiedMatching +OMIM:606691 CEACAM19 skos:exactMatch ncbigene:56971 semapv:UnspecifiedMatching +OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:20456 semapv:UnspecifiedMatching +OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:TRAF7 semapv:UnspecifiedMatching +OMIM:606692 TRAF7 skos:exactMatch ncbigene:84231 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch MONDO:0011706 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:306674 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching +OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:8063 semapv:UnspecifiedMatching +OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:NUP155 semapv:UnspecifiedMatching +OMIM:606694 NUP155 skos:exactMatch ncbigene:9631 semapv:UnspecifiedMatching +OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:14007 semapv:UnspecifiedMatching +OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:OPN3 semapv:UnspecifiedMatching +OMIM:606695 OPN3 skos:exactMatch ncbigene:23596 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch UMLS:C1416541 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:6216 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:KATNA1 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch ncbigene:11104 semapv:UnspecifiedMatching +OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:20878 semapv:UnspecifiedMatching +OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:ZNF443 semapv:UnspecifiedMatching +OMIM:606697 zinc finger protein zk1 skos:exactMatch ncbigene:10224 semapv:UnspecifiedMatching +OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:30635 semapv:UnspecifiedMatching +OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:SOX30 semapv:UnspecifiedMatching +OMIM:606698 sry-box 30 skos:exactMatch ncbigene:11063 semapv:UnspecifiedMatching +OMIM:606699 HELZ skos:exactMatch hgnc.symbol:16878 semapv:UnspecifiedMatching +OMIM:606699 HELZ skos:exactMatch hgnc.symbol:HELZ semapv:UnspecifiedMatching +OMIM:606699 HELZ skos:exactMatch ncbigene:9931 semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch UMLS:C1424166 semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch hgnc.symbol:16298 semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch hgnc.symbol:MIDN semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch ncbigene:90007 semapv:UnspecifiedMatching +OMIM:606701 DRGX skos:exactMatch hgnc.symbol:21536 semapv:UnspecifiedMatching +OMIM:606701 DRGX skos:exactMatch hgnc.symbol:DRGX semapv:UnspecifiedMatching +OMIM:606701 DRGX skos:exactMatch ncbigene:644168 semapv:UnspecifiedMatching +OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:9016 semapv:UnspecifiedMatching +OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:PKHD1 semapv:UnspecifiedMatching +OMIM:606702 PKHD1 skos:exactMatch ncbigene:5314 semapv:UnspecifiedMatching +OMIM:606703 dyskinesia with orofacial involvement, autosomal dominant skos:exactMatch MONDO:0800028 semapv:UnspecifiedMatching +OMIM:606704 GPR75 skos:exactMatch UMLS:C1415257 semapv:UnspecifiedMatching +OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:4526 semapv:UnspecifiedMatching +OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:GPR75 semapv:UnspecifiedMatching +OMIM:606704 GPR75 skos:exactMatch ncbigene:10936 semapv:UnspecifiedMatching +OMIM:606705 deafness, autosomal dominant 36 skos:exactMatch MONDO:0011708 semapv:UnspecifiedMatching +OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:16513 semapv:UnspecifiedMatching +OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:TMC1 semapv:UnspecifiedMatching +OMIM:606706 TMC1 skos:exactMatch ncbigene:117531 semapv:UnspecifiedMatching +OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:16527 semapv:UnspecifiedMatching +OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:TMC2 semapv:UnspecifiedMatching +OMIM:606707 TMC2 skos:exactMatch ncbigene:117532 semapv:UnspecifiedMatching +OMIM:606708 split-hand/foot malformation 5 skos:exactMatch MONDO:0011709 semapv:UnspecifiedMatching +OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:9477 semapv:UnspecifiedMatching +OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:PRSS12 semapv:UnspecifiedMatching +OMIM:606709 PRSS12 skos:exactMatch ncbigene:8492 semapv:UnspecifiedMatching +OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:6586 semapv:UnspecifiedMatching +OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:LHFPL6 semapv:UnspecifiedMatching +OMIM:606710 LHFPL6 skos:exactMatch ncbigene:10186 semapv:UnspecifiedMatching +OMIM:606711 specific language impairment 1 skos:exactMatch MONDO:0011710 semapv:UnspecifiedMatching +OMIM:606712 specific language impairment 2 skos:exactMatch MONDO:0011711 semapv:UnspecifiedMatching +OMIM:606713 van der woude syndrome 2 skos:exactMatch MONDO:0011712 semapv:UnspecifiedMatching +OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:17278 semapv:UnspecifiedMatching +OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:PNRC1 semapv:UnspecifiedMatching +OMIM:606714 PNRC1 skos:exactMatch ncbigene:10957 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch UMLS:C1427464 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:21263 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:ASIC4 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch ncbigene:55515 semapv:UnspecifiedMatching +OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:18069 semapv:UnspecifiedMatching +OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:NAT8 semapv:UnspecifiedMatching +OMIM:606716 NAT8 skos:exactMatch ncbigene:9027 semapv:UnspecifiedMatching +OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:30932 semapv:UnspecifiedMatching +OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:XAF1 semapv:UnspecifiedMatching +OMIM:606717 XAF1 skos:exactMatch ncbigene:54739 semapv:UnspecifiedMatching +OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:10994 semapv:UnspecifiedMatching +OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:SLC26A2 semapv:UnspecifiedMatching +OMIM:606718 SLC26A2 skos:exactMatch ncbigene:1836 semapv:UnspecifiedMatching +OMIM:606719 melanoma-pancreatic cancer syndrome skos:exactMatch MONDO:0011713 semapv:UnspecifiedMatching +OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:14369 semapv:UnspecifiedMatching +OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:ENDOU semapv:UnspecifiedMatching +OMIM:606720 ENDOU skos:exactMatch ncbigene:8909 semapv:UnspecifiedMatching +OMIM:606721 lipodystrophy, familial partial, iia 7 skos:exactMatch MONDO:0011714 semapv:UnspecifiedMatching +OMIM:606722 NCALD skos:exactMatch hgnc.symbol:7655 semapv:UnspecifiedMatching +OMIM:606722 NCALD skos:exactMatch hgnc.symbol:NCALD semapv:UnspecifiedMatching +OMIM:606722 NCALD skos:exactMatch ncbigene:83988 semapv:UnspecifiedMatching +OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:6889 semapv:UnspecifiedMatching +OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:MAPKAPK5 semapv:UnspecifiedMatching +OMIM:606723 MAPKAPK5 skos:exactMatch ncbigene:8550 semapv:UnspecifiedMatching +OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:7110 semapv:UnspecifiedMatching +OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:MKNK1 semapv:UnspecifiedMatching +OMIM:606724 MKNK1 skos:exactMatch ncbigene:8569 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch UMLS:C1413498 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:2077 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:CLN6 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch ncbigene:54982 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch UMLS:C1422213 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225245 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:13818 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:SLC12A5 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch ncbigene:57468 semapv:UnspecifiedMatching +OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:7836 semapv:UnspecifiedMatching +OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:NKX2-3 semapv:UnspecifiedMatching +OMIM:606727 NKX2-3 skos:exactMatch ncbigene:159296 semapv:UnspecifiedMatching +OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:10690 semapv:UnspecifiedMatching +OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:CAVIN2 semapv:UnspecifiedMatching +OMIM:606728 CAVIN2 skos:exactMatch ncbigene:8436 semapv:UnspecifiedMatching +OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:8504 semapv:UnspecifiedMatching +OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:OSBP2 semapv:UnspecifiedMatching +OMIM:606729 OSBP2 skos:exactMatch ncbigene:23762 semapv:UnspecifiedMatching +OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:16398 semapv:UnspecifiedMatching +OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:OSBPL1A semapv:UnspecifiedMatching +OMIM:606730 OSBPL1A skos:exactMatch ncbigene:114876 semapv:UnspecifiedMatching +OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:15761 semapv:UnspecifiedMatching +OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:OSBPL2 semapv:UnspecifiedMatching +OMIM:606731 OSBPL2 skos:exactMatch ncbigene:9885 semapv:UnspecifiedMatching +OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:16370 semapv:UnspecifiedMatching +OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:OSBPL3 semapv:UnspecifiedMatching +OMIM:606732 OSBPL3 skos:exactMatch ncbigene:26031 semapv:UnspecifiedMatching +OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:16392 semapv:UnspecifiedMatching +OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:OSBPL5 semapv:UnspecifiedMatching +OMIM:606733 OSBPL5 skos:exactMatch ncbigene:114879 semapv:UnspecifiedMatching +OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:16388 semapv:UnspecifiedMatching +OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:OSBPL6 semapv:UnspecifiedMatching +OMIM:606734 OSBPL6 skos:exactMatch ncbigene:114880 semapv:UnspecifiedMatching +OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:16387 semapv:UnspecifiedMatching +OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:OSBPL7 semapv:UnspecifiedMatching +OMIM:606735 OSBPL7 skos:exactMatch ncbigene:114881 semapv:UnspecifiedMatching +OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:16396 semapv:UnspecifiedMatching +OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:OSBPL8 semapv:UnspecifiedMatching +OMIM:606736 OSBPL8 skos:exactMatch ncbigene:114882 semapv:UnspecifiedMatching +OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:16386 semapv:UnspecifiedMatching +OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:OSBPL9 semapv:UnspecifiedMatching +OMIM:606737 OSBPL9 skos:exactMatch ncbigene:114883 semapv:UnspecifiedMatching +OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:16395 semapv:UnspecifiedMatching +OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:OSBPL10 semapv:UnspecifiedMatching +OMIM:606738 OSBPL10 skos:exactMatch ncbigene:114884 semapv:UnspecifiedMatching +OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:16397 semapv:UnspecifiedMatching +OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:OSBPL11 semapv:UnspecifiedMatching +OMIM:606739 OSBPL11 skos:exactMatch ncbigene:114885 semapv:UnspecifiedMatching +OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:12970 semapv:UnspecifiedMatching +OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:ZNF180 semapv:UnspecifiedMatching +OMIM:606740 ZNF180 skos:exactMatch ncbigene:7733 semapv:UnspecifiedMatching +OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:12971 semapv:UnspecifiedMatching +OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:ZNF181 semapv:UnspecifiedMatching +OMIM:606741 ZNF181 skos:exactMatch ncbigene:339318 semapv:UnspecifiedMatching +OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:11843 semapv:UnspecifiedMatching +OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:TLL1 semapv:UnspecifiedMatching +OMIM:606742 TLL1 skos:exactMatch ncbigene:7092 semapv:UnspecifiedMatching +OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:11844 semapv:UnspecifiedMatching +OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:TLL2 semapv:UnspecifiedMatching +OMIM:606743 TLL2 skos:exactMatch ncbigene:7093 semapv:UnspecifiedMatching +OMIM:606744 seckel syndrome 2 skos:exactMatch MONDO:0011715 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch UMLS:C1423939 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:16051 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:PARD3 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch ncbigene:56288 semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch UMLS:C1424658 semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:16948 semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:MYDGF semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch ncbigene:56005 semapv:UnspecifiedMatching +OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:12949 semapv:UnspecifiedMatching +OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:VEZF1 semapv:UnspecifiedMatching +OMIM:606747 VEZF1 skos:exactMatch ncbigene:7716 semapv:UnspecifiedMatching +OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:18304 semapv:UnspecifiedMatching +OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:COTL1 semapv:UnspecifiedMatching +OMIM:606748 COTL1 skos:exactMatch ncbigene:23406 semapv:UnspecifiedMatching +OMIM:606749 TINAG skos:exactMatch hgnc.symbol:14599 semapv:UnspecifiedMatching +OMIM:606749 TINAG skos:exactMatch hgnc.symbol:TINAG semapv:UnspecifiedMatching +OMIM:606749 TINAG skos:exactMatch ncbigene:27283 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch UMLS:C1424053 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:16176 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:ZBP1 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch ncbigene:81030 semapv:UnspecifiedMatching +OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:14908 semapv:UnspecifiedMatching +OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:TMPRSS5 semapv:UnspecifiedMatching +OMIM:606751 TMPRSS5 skos:exactMatch ncbigene:80975 semapv:UnspecifiedMatching +OMIM:606752 acute hemorrhagic leukoencephalitis skos:exactMatch MONDO:0011716 semapv:UnspecifiedMatching +OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:12394 semapv:UnspecifiedMatching +OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:TTC4 semapv:UnspecifiedMatching +OMIM:606753 TTC4 skos:exactMatch ncbigene:7268 semapv:UnspecifiedMatching +OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:15925 semapv:UnspecifiedMatching +OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:SAMHD1 semapv:UnspecifiedMatching +OMIM:606754 SAMHD1 skos:exactMatch ncbigene:25939 semapv:UnspecifiedMatching +OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:18337 semapv:UnspecifiedMatching +OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:PADI3 semapv:UnspecifiedMatching +OMIM:606755 PADI3 skos:exactMatch ncbigene:51702 semapv:UnspecifiedMatching +OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:5215 semapv:UnspecifiedMatching +OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:HSD17B7 semapv:UnspecifiedMatching +OMIM:606756 HSD17B7 skos:exactMatch ncbigene:51478 semapv:UnspecifiedMatching +OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:18168 semapv:UnspecifiedMatching +OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:SLC4A5 semapv:UnspecifiedMatching +OMIM:606757 SLC4A5 skos:exactMatch ncbigene:57835 semapv:UnspecifiedMatching +OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:3062 semapv:UnspecifiedMatching +OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:DUOX1 semapv:UnspecifiedMatching +OMIM:606758 DUOX1 skos:exactMatch ncbigene:53905 semapv:UnspecifiedMatching +OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:13273 semapv:UnspecifiedMatching +OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:DUOX2 semapv:UnspecifiedMatching +OMIM:606759 DUOX2 skos:exactMatch ncbigene:50506 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch UMLS:C1417196 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:7150 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:MLYCD semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch ncbigene:23417 semapv:UnspecifiedMatching +OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 skos:exactMatch MONDO:0011717 semapv:UnspecifiedMatching +OMIM:606763 ciliary dyskinesia, primary, 2 skos:exactMatch MONDO:0011718 semapv:UnspecifiedMatching +OMIM:606764 gastrointestinal stromal tumor skos:exactMatch MONDO:0011719 semapv:UnspecifiedMatching +OMIM:606765 TPO skos:exactMatch hgnc.symbol:12015 semapv:UnspecifiedMatching +OMIM:606765 TPO skos:exactMatch hgnc.symbol:TPO semapv:UnspecifiedMatching +OMIM:606765 TPO skos:exactMatch ncbigene:7173 semapv:UnspecifiedMatching +OMIM:606766 spermatogenic failure 3 skos:exactMatch MONDO:0011720 semapv:UnspecifiedMatching +OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:18306 semapv:UnspecifiedMatching +OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:KCNG3 semapv:UnspecifiedMatching +OMIM:606767 KCNG3 skos:exactMatch ncbigene:170850 semapv:UnspecifiedMatching +OMIM:606768 myopathy, distal, with anterior tibial onset skos:exactMatch MONDO:0011721 semapv:UnspecifiedMatching +OMIM:606769 HELQ skos:exactMatch hgnc.symbol:18536 semapv:UnspecifiedMatching +OMIM:606769 HELQ skos:exactMatch hgnc.symbol:HELQ semapv:UnspecifiedMatching +OMIM:606769 HELQ skos:exactMatch ncbigene:113510 semapv:UnspecifiedMatching +OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies skos:exactMatch MONDO:0011722 semapv:UnspecifiedMatching +OMIM:606773 hemifacial myohyperplasia skos:exactMatch MONDO:0011723 semapv:UnspecifiedMatching +OMIM:606774 MIOX skos:exactMatch hgnc.symbol:14522 semapv:UnspecifiedMatching +OMIM:606774 MIOX skos:exactMatch hgnc.symbol:MIOX semapv:UnspecifiedMatching +OMIM:606774 MIOX skos:exactMatch ncbigene:55586 semapv:UnspecifiedMatching +OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:2467 semapv:UnspecifiedMatching +OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:CSPG5 semapv:UnspecifiedMatching +OMIM:606775 CSPG5 skos:exactMatch ncbigene:10675 semapv:UnspecifiedMatching +OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:30790 semapv:UnspecifiedMatching +OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:TGM7 semapv:UnspecifiedMatching +OMIM:606776 TGM7 skos:exactMatch ncbigene:116179 semapv:UnspecifiedMatching +OMIM:606777 glut1 deficiency syndrome 1 skos:exactMatch MONDO:0011724 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch UMLS:C1539855 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:30579 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:SSH1 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch ncbigene:54434 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch UMLS:C1539856 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:30580 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:SSH2 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch ncbigene:85464 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch UMLS:C1539857 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:30581 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:SSH3 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch ncbigene:54961 semapv:UnspecifiedMatching +OMIM:606781 TKT skos:exactMatch hgnc.symbol:11834 semapv:UnspecifiedMatching +OMIM:606781 TKT skos:exactMatch hgnc.symbol:TKT semapv:UnspecifiedMatching +OMIM:606781 TKT skos:exactMatch ncbigene:7086 semapv:UnspecifiedMatching +OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:24355 semapv:UnspecifiedMatching +OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:CLEC1A semapv:UnspecifiedMatching +OMIM:606782 CLEC1A skos:exactMatch ncbigene:51267 semapv:UnspecifiedMatching +OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:24356 semapv:UnspecifiedMatching +OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:CLEC1B semapv:UnspecifiedMatching +OMIM:606783 CLEC1B skos:exactMatch ncbigene:51266 semapv:UnspecifiedMatching +OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:4616 semapv:UnspecifiedMatching +OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:GSK3A semapv:UnspecifiedMatching +OMIM:606784 GSK3A skos:exactMatch ncbigene:2931 semapv:UnspecifiedMatching +OMIM:606785 crigler-najjar syndrome, iia 2 skos:exactMatch MONDO:0011725 semapv:UnspecifiedMatching +OMIM:606786 CD300C skos:exactMatch hgnc.symbol:19320 semapv:UnspecifiedMatching +OMIM:606786 CD300C skos:exactMatch hgnc.symbol:CD300C semapv:UnspecifiedMatching +OMIM:606786 CD300C skos:exactMatch ncbigene:10871 semapv:UnspecifiedMatching +OMIM:606787 peripheral arterial occlusive disease 1 skos:exactMatch MONDO:0011726 semapv:UnspecifiedMatching +OMIM:606788 anorexia nervosa, susceptibility to skos:exactMatch MONDO:0011727 semapv:UnspecifiedMatching +OMIM:606790 CD300A skos:exactMatch hgnc.symbol:19319 semapv:UnspecifiedMatching +OMIM:606790 CD300A skos:exactMatch hgnc.symbol:CD300A semapv:UnspecifiedMatching +OMIM:606790 CD300A skos:exactMatch ncbigene:11314 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch UMLS:C1540044 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:17299 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:TPTE2 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch ncbigene:93492 semapv:UnspecifiedMatching +OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:17383 semapv:UnspecifiedMatching +OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:HRH4 semapv:UnspecifiedMatching +OMIM:606792 HRH4 skos:exactMatch ncbigene:59340 semapv:UnspecifiedMatching +OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:7900 semapv:UnspecifiedMatching +OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:NPEPPS semapv:UnspecifiedMatching +OMIM:606793 NPEPPS skos:exactMatch ncbigene:9520 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch UMLS:C1420151 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:10980 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:SLC25A10 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch ncbigene:1468 semapv:UnspecifiedMatching +OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:10987 semapv:UnspecifiedMatching +OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:SLC25A17 semapv:UnspecifiedMatching +OMIM:606795 SLC25A17 skos:exactMatch ncbigene:10478 semapv:UnspecifiedMatching +OMIM:606796 ST13 skos:exactMatch hgnc.symbol:11343 semapv:UnspecifiedMatching +OMIM:606796 ST13 skos:exactMatch hgnc.symbol:ST13 semapv:UnspecifiedMatching +OMIM:606796 ST13 skos:exactMatch ncbigene:6767 semapv:UnspecifiedMatching +OMIM:606797 ST14 skos:exactMatch hgnc.symbol:11344 semapv:UnspecifiedMatching +OMIM:606797 ST14 skos:exactMatch hgnc.symbol:ST14 semapv:UnspecifiedMatching +OMIM:606797 ST14 skos:exactMatch ncbigene:6768 semapv:UnspecifiedMatching +OMIM:606798 blepharospasm, benign essential, susceptibility to skos:exactMatch MONDO:0100532 semapv:UnspecifiedMatching +OMIM:606799 stroke, susceptibility to, 1 skos:exactMatch MONDO:0011729 semapv:UnspecifiedMatching +OMIM:606800 GAA skos:exactMatch hgnc.symbol:4065 semapv:UnspecifiedMatching +OMIM:606800 GAA skos:exactMatch hgnc.symbol:GAA semapv:UnspecifiedMatching +OMIM:606800 GAA skos:exactMatch ncbigene:2548 semapv:UnspecifiedMatching +OMIM:606801 MAEA skos:exactMatch hgnc.symbol:13731 semapv:UnspecifiedMatching +OMIM:606801 MAEA skos:exactMatch hgnc.symbol:MAEA semapv:UnspecifiedMatching +OMIM:606801 MAEA skos:exactMatch ncbigene:10296 semapv:UnspecifiedMatching +OMIM:606802 SPIB skos:exactMatch hgnc.symbol:11242 semapv:UnspecifiedMatching +OMIM:606802 SPIB skos:exactMatch hgnc.symbol:SPIB semapv:UnspecifiedMatching +OMIM:606802 SPIB skos:exactMatch ncbigene:6689 semapv:UnspecifiedMatching +OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:18156 semapv:UnspecifiedMatching +OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:ACOT11 semapv:UnspecifiedMatching +OMIM:606803 ACOT11 skos:exactMatch ncbigene:26027 semapv:UnspecifiedMatching +OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:15451 semapv:UnspecifiedMatching +OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:GOLM1 semapv:UnspecifiedMatching +OMIM:606804 GOLM1 skos:exactMatch ncbigene:51280 semapv:UnspecifiedMatching +OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:15448 semapv:UnspecifiedMatching +OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:GOLIM4 semapv:UnspecifiedMatching +OMIM:606805 GOLIM4 skos:exactMatch ncbigene:27333 semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch UMLS:C1414832 semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch hgnc.symbol:3974 semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch hgnc.symbol:FTCD semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch ncbigene:10841 semapv:UnspecifiedMatching +OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:17616 semapv:UnspecifiedMatching +OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:IL17RD semapv:UnspecifiedMatching +OMIM:606807 IL17RD skos:exactMatch ncbigene:54756 semapv:UnspecifiedMatching +OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:7601 semapv:UnspecifiedMatching +OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:MYO3A semapv:UnspecifiedMatching +OMIM:606808 MYO3A skos:exactMatch ncbigene:53904 semapv:UnspecifiedMatching +OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:15453 semapv:UnspecifiedMatching +OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:ACBD3 semapv:UnspecifiedMatching +OMIM:606809 ACBD3 skos:exactMatch ncbigene:64746 semapv:UnspecifiedMatching +OMIM:606810 PRODH skos:exactMatch hgnc.symbol:9453 semapv:UnspecifiedMatching +OMIM:606810 PRODH skos:exactMatch hgnc.symbol:PRODH semapv:UnspecifiedMatching +OMIM:606810 PRODH skos:exactMatch ncbigene:5625 semapv:UnspecifiedMatching +OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:406 semapv:UnspecifiedMatching +OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:ALDH4A1 semapv:UnspecifiedMatching +OMIM:606811 ALDH4A1 skos:exactMatch ncbigene:8659 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch MONDO:0011730 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C2936826 semapv:UnspecifiedMatching +OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:11011 semapv:UnspecifiedMatching +OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:SLC2A6 semapv:UnspecifiedMatching +OMIM:606813 SLC2A6 skos:exactMatch ncbigene:11182 semapv:UnspecifiedMatching +OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:9363 semapv:UnspecifiedMatching +OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:PRG3 semapv:UnspecifiedMatching +OMIM:606814 PRG3 skos:exactMatch ncbigene:10394 semapv:UnspecifiedMatching +OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:18696 semapv:UnspecifiedMatching +OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:CITED4 semapv:UnspecifiedMatching +OMIM:606815 CITED4 skos:exactMatch ncbigene:163732 semapv:UnspecifiedMatching +OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:25967 semapv:UnspecifiedMatching +OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:SIDT1 semapv:UnspecifiedMatching +OMIM:606816 SIDT1 skos:exactMatch ncbigene:54847 semapv:UnspecifiedMatching +OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:21290 semapv:UnspecifiedMatching +OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:PTCRA semapv:UnspecifiedMatching +OMIM:606817 PTCRA skos:exactMatch ncbigene:171558 semapv:UnspecifiedMatching +OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:3008 semapv:UnspecifiedMatching +OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:DPP3 semapv:UnspecifiedMatching +OMIM:606818 DPP3 skos:exactMatch ncbigene:10072 semapv:UnspecifiedMatching +OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:16490 semapv:UnspecifiedMatching +OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:DPP8 semapv:UnspecifiedMatching +OMIM:606819 DPP8 skos:exactMatch ncbigene:54878 semapv:UnspecifiedMatching +OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:16065 semapv:UnspecifiedMatching +OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:GLRX2 semapv:UnspecifiedMatching +OMIM:606820 GLRX2 skos:exactMatch ncbigene:51022 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch UMLS:C1423002 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch hgnc.symbol:14857 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch hgnc.symbol:COG5 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch ncbigene:10466 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C1826644 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch UMLS:C4310704 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:19139 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:POMGNT1 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch ncbigene:55624 semapv:UnspecifiedMatching +OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:17849 semapv:UnspecifiedMatching +OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:ADGRA2 semapv:UnspecifiedMatching +OMIM:606823 ADGRA2 skos:exactMatch ncbigene:25960 semapv:UnspecifiedMatching +OMIM:606824 glucose/galactose malabsorption skos:exactMatch MONDO:0011731 semapv:UnspecifiedMatching +OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:21616 semapv:UnspecifiedMatching +OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:TNS3 semapv:UnspecifiedMatching +OMIM:606825 TNS3 skos:exactMatch ncbigene:64759 semapv:UnspecifiedMatching +OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:20945 semapv:UnspecifiedMatching +OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:PLXDC1 semapv:UnspecifiedMatching +OMIM:606826 PLXDC1 skos:exactMatch ncbigene:57125 semapv:UnspecifiedMatching +OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:21013 semapv:UnspecifiedMatching +OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:PLXDC2 semapv:UnspecifiedMatching +OMIM:606827 PLXDC2 skos:exactMatch ncbigene:84898 semapv:UnspecifiedMatching +OMIM:606828 NAGK skos:exactMatch hgnc.symbol:17174 semapv:UnspecifiedMatching +OMIM:606828 NAGK skos:exactMatch hgnc.symbol:NAGK semapv:UnspecifiedMatching +OMIM:606828 NAGK skos:exactMatch ncbigene:55577 semapv:UnspecifiedMatching +OMIM:606829 FXN skos:exactMatch hgnc.symbol:3951 semapv:UnspecifiedMatching +OMIM:606829 FXN skos:exactMatch hgnc.symbol:FXN semapv:UnspecifiedMatching +OMIM:606829 FXN skos:exactMatch ncbigene:2395 semapv:UnspecifiedMatching +OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:17258 semapv:UnspecifiedMatching +OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:AGTPBP1 semapv:UnspecifiedMatching +OMIM:606830 AGTPBP1 skos:exactMatch ncbigene:23287 semapv:UnspecifiedMatching +OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:16412 semapv:UnspecifiedMatching +OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:NLRC4 semapv:UnspecifiedMatching +OMIM:606831 NLRC4 skos:exactMatch ncbigene:58484 semapv:UnspecifiedMatching +OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:18173 semapv:UnspecifiedMatching +OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:ERAP1 semapv:UnspecifiedMatching +OMIM:606832 ERAP1 skos:exactMatch ncbigene:51752 semapv:UnspecifiedMatching +OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:13726 semapv:UnspecifiedMatching +OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:KMT2C semapv:UnspecifiedMatching +OMIM:606833 KMT2C skos:exactMatch ncbigene:58508 semapv:UnspecifiedMatching +OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:15840 semapv:UnspecifiedMatching +OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:KMT2B semapv:UnspecifiedMatching +OMIM:606834 KMT2B skos:exactMatch ncbigene:9757 semapv:UnspecifiedMatching +OMIM:606835 digital arthropathy-brachydactyly, familial skos:exactMatch MONDO:0011732 semapv:UnspecifiedMatching +OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:4205 semapv:UnspecifiedMatching +OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:GCNT3 semapv:UnspecifiedMatching +OMIM:606836 GCNT3 skos:exactMatch ncbigene:9245 semapv:UnspecifiedMatching +OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:15574 semapv:UnspecifiedMatching +OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:RB1CC1 semapv:UnspecifiedMatching +OMIM:606837 RB1CC1 skos:exactMatch ncbigene:9821 semapv:UnspecifiedMatching +OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:16608 semapv:UnspecifiedMatching +OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:PYCARD semapv:UnspecifiedMatching +OMIM:606838 PYCARD skos:exactMatch ncbigene:29108 semapv:UnspecifiedMatching +OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:7521 semapv:UnspecifiedMatching +OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:CDHR5 semapv:UnspecifiedMatching +OMIM:606839 CDHR5 skos:exactMatch ncbigene:53841 semapv:UnspecifiedMatching +OMIM:606840 parasomnia, sleep bruxism iia skos:exactMatch MONDO:0011733 semapv:UnspecifiedMatching +OMIM:606841 DEDD skos:exactMatch hgnc.symbol:2755 semapv:UnspecifiedMatching +OMIM:606841 DEDD skos:exactMatch hgnc.symbol:DEDD semapv:UnspecifiedMatching +OMIM:606841 DEDD skos:exactMatch ncbigene:9191 semapv:UnspecifiedMatching +OMIM:606842 cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch MONDO:0011734 semapv:UnspecifiedMatching +OMIM:606843 immunodeficiency with hyper-igm, iia 3 skos:exactMatch MONDO:0011735 semapv:UnspecifiedMatching +OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:428 semapv:UnspecifiedMatching +OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:ALMS1 semapv:UnspecifiedMatching +OMIM:606844 ALMS1 skos:exactMatch ncbigene:7840 semapv:UnspecifiedMatching +OMIM:606845 GOPC skos:exactMatch hgnc.symbol:17643 semapv:UnspecifiedMatching +OMIM:606845 GOPC skos:exactMatch hgnc.symbol:GOPC semapv:UnspecifiedMatching +OMIM:606845 GOPC skos:exactMatch ncbigene:57120 semapv:UnspecifiedMatching +OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:20986 semapv:UnspecifiedMatching +OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:SMYD1 semapv:UnspecifiedMatching +OMIM:606846 SMYD1 skos:exactMatch ncbigene:150572 semapv:UnspecifiedMatching +OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:11654 semapv:UnspecifiedMatching +OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:TCOF1 semapv:UnspecifiedMatching +OMIM:606847 TCOF1 skos:exactMatch ncbigene:6949 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch UMLS:C1421968 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:13386 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:NEK7 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch ncbigene:140609 semapv:UnspecifiedMatching +OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:13736 semapv:UnspecifiedMatching +OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:UBL5 semapv:UnspecifiedMatching +OMIM:606849 UBL5 skos:exactMatch ncbigene:59286 semapv:UnspecifiedMatching +OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:21460 semapv:UnspecifiedMatching +OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:MIPOL1 semapv:UnspecifiedMatching +OMIM:606850 MIPOL1 skos:exactMatch ncbigene:145282 semapv:UnspecifiedMatching +OMIM:606851 cree mental retardation syndrome skos:exactMatch MONDO:0011736 semapv:UnspecifiedMatching +OMIM:606852 parkinson disease 10 skos:exactMatch MONDO:0011737 semapv:UnspecifiedMatching +OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:862 semapv:UnspecifiedMatching +OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:ATP6V1G2 semapv:UnspecifiedMatching +OMIM:606853 ATP6V1G2 skos:exactMatch ncbigene:534 semapv:UnspecifiedMatching +OMIM:606854 cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) skos:exactMatch MONDO:0011738 semapv:UnspecifiedMatching +OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:17135 semapv:UnspecifiedMatching +OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:RLN3 semapv:UnspecifiedMatching +OMIM:606855 RLN3 skos:exactMatch ncbigene:117579 semapv:UnspecifiedMatching +OMIM:606856 pancreatic cancer, susceptibility to, 1 skos:exactMatch MONDO:0011739 semapv:UnspecifiedMatching +OMIM:606857 GCLC skos:exactMatch hgnc.symbol:4311 semapv:UnspecifiedMatching +OMIM:606857 GCLC skos:exactMatch hgnc.symbol:GCLC semapv:UnspecifiedMatching +OMIM:606857 GCLC skos:exactMatch ncbigene:2729 semapv:UnspecifiedMatching +OMIM:606860 C1NH skos:exactMatch hgnc.symbol:1228 semapv:UnspecifiedMatching +OMIM:606860 C1NH skos:exactMatch hgnc.symbol:SERPING1 semapv:UnspecifiedMatching +OMIM:606860 C1NH skos:exactMatch ncbigene:710 semapv:UnspecifiedMatching +OMIM:606861 PATE skos:exactMatch hgnc.symbol:24664 semapv:UnspecifiedMatching +OMIM:606861 PATE skos:exactMatch hgnc.symbol:PATE1 semapv:UnspecifiedMatching +OMIM:606861 PATE skos:exactMatch ncbigene:160065 semapv:UnspecifiedMatching +OMIM:606862 OSCAR skos:exactMatch UMLS:C1847321 semapv:UnspecifiedMatching +OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:29960 semapv:UnspecifiedMatching +OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:OSCAR semapv:UnspecifiedMatching +OMIM:606862 OSCAR skos:exactMatch ncbigene:126014 semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch UMLS:C1847320 semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch hgnc.symbol:18988 semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch hgnc.symbol:TOX semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch ncbigene:9760 semapv:UnspecifiedMatching +OMIM:606864 paraganglioma and gastric stromal sarcoma skos:exactMatch MONDO:0011740 semapv:UnspecifiedMatching +OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:4020 semapv:UnspecifiedMatching +OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:FUT9 semapv:UnspecifiedMatching +OMIM:606865 FUT9 skos:exactMatch ncbigene:10690 semapv:UnspecifiedMatching +OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:1176 semapv:UnspecifiedMatching +OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:MRPL49 semapv:UnspecifiedMatching +OMIM:606866 MRPL49 skos:exactMatch ncbigene:740 semapv:UnspecifiedMatching +OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:16769 semapv:UnspecifiedMatching +OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:GORASP1 semapv:UnspecifiedMatching +OMIM:606867 GORASP1 skos:exactMatch ncbigene:64689 semapv:UnspecifiedMatching +OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:14402 semapv:UnspecifiedMatching +OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:HIPK2 semapv:UnspecifiedMatching +OMIM:606868 HIPK2 skos:exactMatch ncbigene:28996 semapv:UnspecifiedMatching +OMIM:606869 HEXA skos:exactMatch hgnc.symbol:4878 semapv:UnspecifiedMatching +OMIM:606869 HEXA skos:exactMatch hgnc.symbol:HEXA semapv:UnspecifiedMatching +OMIM:606869 HEXA skos:exactMatch ncbigene:3073 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch UMLS:C1422840 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:14686 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:JAM2 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch ncbigene:58494 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch UMLS:C1423559 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch UMLS:C3151000 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:15532 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:JAM3 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch ncbigene:83700 semapv:UnspecifiedMatching +OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:21225 semapv:UnspecifiedMatching +OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:CBLL1 semapv:UnspecifiedMatching +OMIM:606872 CBLL1 skos:exactMatch ncbigene:79872 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C0751489 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C0751490 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C1415523 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C1849320 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C1849321 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C1849322 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4016989 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4310842 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4310887 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch UMLS:C4310888 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch hgnc.symbol:4879 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch hgnc.symbol:HEXB semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch ncbigene:3074 semapv:UnspecifiedMatching +OMIM:606874 hirschsprung disease, susceptibility to, 6 skos:exactMatch MONDO:0011741 semapv:UnspecifiedMatching +OMIM:606875 hirschsprung disease, susceptibility to, 7 skos:exactMatch MONDO:0011742 semapv:UnspecifiedMatching +OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:9002 semapv:UnspecifiedMatching +OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:PITPNB semapv:UnspecifiedMatching +OMIM:606876 PITPNB skos:exactMatch ncbigene:23760 semapv:UnspecifiedMatching +OMIM:606877 ANP32C skos:exactMatch hgnc.symbol:ANP32CP semapv:UnspecifiedMatching +OMIM:606877 ANP32C skos:exactMatch ncbigene:23520 semapv:UnspecifiedMatching +OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:16676 semapv:UnspecifiedMatching +OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:ANP32D semapv:UnspecifiedMatching +OMIM:606878 ANP32D skos:exactMatch ncbigene:23519 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch UMLS:C1418531 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch UMLS:C4551478 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:8923 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:PHGDH semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch ncbigene:26227 semapv:UnspecifiedMatching +OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:1510 semapv:UnspecifiedMatching +OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:CASP8AP2 semapv:UnspecifiedMatching +OMIM:606880 CASP8AP2 skos:exactMatch ncbigene:9994 semapv:UnspecifiedMatching +OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:17905 semapv:UnspecifiedMatching +OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:FHOD1 semapv:UnspecifiedMatching +OMIM:606881 FHOD1 skos:exactMatch ncbigene:29109 semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch UMLS:C1412689 semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:870 semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:ATP7B semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch ncbigene:540 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch UMLS:C1334137 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:17967 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:IRAK4 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch ncbigene:51135 semapv:UnspecifiedMatching +OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:9902 semapv:UnspecifiedMatching +OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:RBM5 semapv:UnspecifiedMatching +OMIM:606884 RBM5 skos:exactMatch ncbigene:10181 semapv:UnspecifiedMatching +OMIM:606885 ACADS skos:exactMatch hgnc.symbol:90 semapv:UnspecifiedMatching +OMIM:606885 ACADS skos:exactMatch hgnc.symbol:ACADS semapv:UnspecifiedMatching +OMIM:606885 ACADS skos:exactMatch ncbigene:35 semapv:UnspecifiedMatching +OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:9903 semapv:UnspecifiedMatching +OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:RBM6 semapv:UnspecifiedMatching +OMIM:606886 RBM6 skos:exactMatch ncbigene:10180 semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch UMLS:C1420521 semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch hgnc.symbol:11460 semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch hgnc.symbol:SUOX semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch ncbigene:6821 semapv:UnspecifiedMatching +OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:15963 semapv:UnspecifiedMatching +OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:CHRNA6 semapv:UnspecifiedMatching +OMIM:606888 CHRNA6 skos:exactMatch ncbigene:8973 semapv:UnspecifiedMatching +OMIM:606889 alzheimer disease 4 skos:exactMatch MONDO:0011743 semapv:UnspecifiedMatching +OMIM:606890 GALC skos:exactMatch hgnc.symbol:4115 semapv:UnspecifiedMatching +OMIM:606890 GALC skos:exactMatch hgnc.symbol:GALC semapv:UnspecifiedMatching +OMIM:606890 GALC skos:exactMatch ncbigene:2581 semapv:UnspecifiedMatching +OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:18504 semapv:UnspecifiedMatching +OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:FCRLA semapv:UnspecifiedMatching +OMIM:606891 FCRLA skos:exactMatch ncbigene:84824 semapv:UnspecifiedMatching +OMIM:606892 STX12 skos:exactMatch hgnc.symbol:11430 semapv:UnspecifiedMatching +OMIM:606892 STX12 skos:exactMatch hgnc.symbol:STX12 semapv:UnspecifiedMatching +OMIM:606892 STX12 skos:exactMatch ncbigene:23673 semapv:UnspecifiedMatching +OMIM:606893 vascular malformation, primary intraosseous skos:exactMatch MONDO:0011744 semapv:UnspecifiedMatching +OMIM:606894 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch MONDO:0011745 semapv:UnspecifiedMatching +OMIM:606895 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch MONDO:0011746 semapv:UnspecifiedMatching +OMIM:606896 dyslexia, susceptibility to, 5 skos:exactMatch MONDO:0011747 semapv:UnspecifiedMatching +OMIM:606897 LYST skos:exactMatch hgnc.symbol:1968 semapv:UnspecifiedMatching +OMIM:606897 LYST skos:exactMatch hgnc.symbol:LYST semapv:UnspecifiedMatching +OMIM:606897 LYST skos:exactMatch ncbigene:1130 semapv:UnspecifiedMatching +OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:13625 semapv:UnspecifiedMatching +OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:CACNG6 semapv:UnspecifiedMatching +OMIM:606898 CACNG6 skos:exactMatch ncbigene:59285 semapv:UnspecifiedMatching +OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:13626 semapv:UnspecifiedMatching +OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:CACNG7 semapv:UnspecifiedMatching +OMIM:606899 CACNG7 skos:exactMatch ncbigene:59284 semapv:UnspecifiedMatching +OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:13628 semapv:UnspecifiedMatching +OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:CACNG8 semapv:UnspecifiedMatching +OMIM:606900 CACNG8 skos:exactMatch ncbigene:59283 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch UMLS:C1538758 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:30256 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:PYGO1 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch ncbigene:26108 semapv:UnspecifiedMatching +OMIM:606903 PYGO2 skos:exactMatch UMLS:C1538759 semapv:UnspecifiedMatching +OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:30257 semapv:UnspecifiedMatching +OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:PYGO2 semapv:UnspecifiedMatching +OMIM:606903 PYGO2 skos:exactMatch ncbigene:90780 semapv:UnspecifiedMatching +OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:32594 semapv:UnspecifiedMatching +OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:PREX1 semapv:UnspecifiedMatching +OMIM:606905 PREX1 skos:exactMatch ncbigene:57580 semapv:UnspecifiedMatching +OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:16352 semapv:UnspecifiedMatching +OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:MRM2 semapv:UnspecifiedMatching +OMIM:606906 MRM2 skos:exactMatch ncbigene:29960 semapv:UnspecifiedMatching +OMIM:606907 APOM skos:exactMatch hgnc.symbol:13916 semapv:UnspecifiedMatching +OMIM:606907 APOM skos:exactMatch hgnc.symbol:APOM semapv:UnspecifiedMatching +OMIM:606907 APOM skos:exactMatch ncbigene:55937 semapv:UnspecifiedMatching +OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:13504 semapv:UnspecifiedMatching +OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:ARFGAP2 semapv:UnspecifiedMatching +OMIM:606908 ARFGAP2 skos:exactMatch ncbigene:84364 semapv:UnspecifiedMatching +OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:12645 semapv:UnspecifiedMatching +OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:VAMP4 semapv:UnspecifiedMatching +OMIM:606909 VAMP4 skos:exactMatch ncbigene:8674 semapv:UnspecifiedMatching +OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:993 semapv:UnspecifiedMatching +OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:BCL2L10 semapv:UnspecifiedMatching +OMIM:606910 BCL2L10 skos:exactMatch ncbigene:10017 semapv:UnspecifiedMatching +OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:10563 semapv:UnspecifiedMatching +OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:SCAMP1 semapv:UnspecifiedMatching +OMIM:606911 SCAMP1 skos:exactMatch ncbigene:9522 semapv:UnspecifiedMatching +OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:10564 semapv:UnspecifiedMatching +OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:SCAMP2 semapv:UnspecifiedMatching +OMIM:606912 SCAMP2 skos:exactMatch ncbigene:10066 semapv:UnspecifiedMatching +OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:10565 semapv:UnspecifiedMatching +OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:SCAMP3 semapv:UnspecifiedMatching +OMIM:606913 SCAMP3 skos:exactMatch ncbigene:10067 semapv:UnspecifiedMatching +OMIM:606914 PKIB skos:exactMatch hgnc.symbol:9018 semapv:UnspecifiedMatching +OMIM:606914 PKIB skos:exactMatch hgnc.symbol:PKIB semapv:UnspecifiedMatching +OMIM:606914 PKIB skos:exactMatch ncbigene:5570 semapv:UnspecifiedMatching +OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:13302 semapv:UnspecifiedMatching +OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:GPR63 semapv:UnspecifiedMatching +OMIM:606915 GPR63 skos:exactMatch ncbigene:81491 semapv:UnspecifiedMatching +OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:13300 semapv:UnspecifiedMatching +OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:GPR61 semapv:UnspecifiedMatching +OMIM:606916 GPR61 skos:exactMatch ncbigene:83873 semapv:UnspecifiedMatching +OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:13301 semapv:UnspecifiedMatching +OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:GPR62 semapv:UnspecifiedMatching +OMIM:606917 GPR62 skos:exactMatch ncbigene:118442 semapv:UnspecifiedMatching +OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:4428 semapv:UnspecifiedMatching +OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:GOLGA5 semapv:UnspecifiedMatching +OMIM:606918 GOLGA5 skos:exactMatch ncbigene:9950 semapv:UnspecifiedMatching +OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:14253 semapv:UnspecifiedMatching +OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:CERS1 semapv:UnspecifiedMatching +OMIM:606919 CERS1 skos:exactMatch ncbigene:10715 semapv:UnspecifiedMatching +OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:14076 semapv:UnspecifiedMatching +OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:CERS2 semapv:UnspecifiedMatching +OMIM:606920 CERS2 skos:exactMatch ncbigene:29956 semapv:UnspecifiedMatching +OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:4528 semapv:UnspecifiedMatching +OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:GPR78 semapv:UnspecifiedMatching +OMIM:606921 GPR78 skos:exactMatch ncbigene:27201 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:4531 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:OXGR1 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch ncbigene:27199 semapv:UnspecifiedMatching +OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:4532 semapv:UnspecifiedMatching +OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:HCAR1 semapv:UnspecifiedMatching +OMIM:606923 HCAR1 skos:exactMatch ncbigene:27198 semapv:UnspecifiedMatching +OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:15565 semapv:UnspecifiedMatching +OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:QRFPR semapv:UnspecifiedMatching +OMIM:606925 QRFPR skos:exactMatch ncbigene:84109 semapv:UnspecifiedMatching +OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:13307 semapv:UnspecifiedMatching +OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:LPAR5 semapv:UnspecifiedMatching +OMIM:606926 LPAR5 skos:exactMatch ncbigene:57121 semapv:UnspecifiedMatching +OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:14964 semapv:UnspecifiedMatching +OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:TAAR8 semapv:UnspecifiedMatching +OMIM:606927 TAAR8 skos:exactMatch ncbigene:83551 semapv:UnspecifiedMatching +OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:19072 semapv:UnspecifiedMatching +OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:THOC3 semapv:UnspecifiedMatching +OMIM:606929 THOC3 skos:exactMatch ncbigene:84321 semapv:UnspecifiedMatching +OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:19070 semapv:UnspecifiedMatching +OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:THOC1 semapv:UnspecifiedMatching +OMIM:606930 THOC1 skos:exactMatch ncbigene:9984 semapv:UnspecifiedMatching +OMIM:606932 VPS29 skos:exactMatch UMLS:C1422577 semapv:UnspecifiedMatching +OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:14340 semapv:UnspecifiedMatching +OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:VPS29 semapv:UnspecifiedMatching +OMIM:606932 VPS29 skos:exactMatch ncbigene:51699 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C1421250 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C1847132 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C2677190 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C3149136 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C4225528 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch UMLS:C4551504 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch hgnc.symbol:12442 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch hgnc.symbol:TYR semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch ncbigene:7299 semapv:UnspecifiedMatching +OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:18828 semapv:UnspecifiedMatching +OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:NDUFAF1 semapv:UnspecifiedMatching +OMIM:606934 NDUFAF1 skos:exactMatch ncbigene:51103 semapv:UnspecifiedMatching +OMIM:606935 RBM17 skos:exactMatch hgnc.symbol:16944 semapv:UnspecifiedMatching +OMIM:606935 RBM17 skos:exactMatch hgnc.symbol:RBM17 semapv:UnspecifiedMatching +OMIM:606935 RBM17 skos:exactMatch ncbigene:84991 semapv:UnspecifiedMatching +OMIM:606936 TRPM4 skos:exactMatch hgnc.symbol:17993 semapv:UnspecifiedMatching +OMIM:606936 TRPM4 skos:exactMatch hgnc.symbol:TRPM4 semapv:UnspecifiedMatching +OMIM:606936 TRPM4 skos:exactMatch ncbigene:54795 semapv:UnspecifiedMatching +OMIM:606938 UROS skos:exactMatch hgnc.symbol:12592 semapv:UnspecifiedMatching +OMIM:606938 UROS skos:exactMatch hgnc.symbol:UROS semapv:UnspecifiedMatching +OMIM:606938 UROS skos:exactMatch ncbigene:7390 semapv:UnspecifiedMatching +OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:854 semapv:UnspecifiedMatching +OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:ATP6V1B2 semapv:UnspecifiedMatching +OMIM:606939 ATP6V1B2 skos:exactMatch ncbigene:526 semapv:UnspecifiedMatching +OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:30939 semapv:UnspecifiedMatching +OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:ZFHX4 semapv:UnspecifiedMatching +OMIM:606940 ZFHX4 skos:exactMatch ncbigene:79776 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch UMLS:C1538263 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch UMLS:C1849762 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch UMLS:C2931006 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:15672 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:ALG9 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch ncbigene:79796 semapv:UnspecifiedMatching +OMIM:606942 COPE skos:exactMatch hgnc.symbol:2234 semapv:UnspecifiedMatching +OMIM:606942 COPE skos:exactMatch hgnc.symbol:COPE semapv:UnspecifiedMatching +OMIM:606942 COPE skos:exactMatch ncbigene:11316 semapv:UnspecifiedMatching +OMIM:606943 usher syndrome, iia 1g skos:exactMatch MONDO:0011748 semapv:UnspecifiedMatching +OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:15842 semapv:UnspecifiedMatching +OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:ERBIN semapv:UnspecifiedMatching +OMIM:606944 ERBIN skos:exactMatch ncbigene:55914 semapv:UnspecifiedMatching +OMIM:606945 LDLR skos:exactMatch hgnc.symbol:6547 semapv:UnspecifiedMatching +OMIM:606945 LDLR skos:exactMatch hgnc.symbol:LDLR semapv:UnspecifiedMatching +OMIM:606945 LDLR skos:exactMatch ncbigene:3949 semapv:UnspecifiedMatching +OMIM:606946 ANAPC2 skos:exactMatch UMLS:C1426586 semapv:UnspecifiedMatching +OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:19989 semapv:UnspecifiedMatching +OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:ANAPC2 semapv:UnspecifiedMatching +OMIM:606946 ANAPC2 skos:exactMatch ncbigene:29882 semapv:UnspecifiedMatching +OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:19990 semapv:UnspecifiedMatching +OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:ANAPC4 semapv:UnspecifiedMatching +OMIM:606947 ANAPC4 skos:exactMatch ncbigene:29945 semapv:UnspecifiedMatching +OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:15713 semapv:UnspecifiedMatching +OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:ANAPC5 semapv:UnspecifiedMatching +OMIM:606948 ANAPC5 skos:exactMatch ncbigene:51433 semapv:UnspecifiedMatching +OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:17380 semapv:UnspecifiedMatching +OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:ANAPC7 semapv:UnspecifiedMatching +OMIM:606949 ANAPC7 skos:exactMatch ncbigene:51434 semapv:UnspecifiedMatching +OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:30748 semapv:UnspecifiedMatching +OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:TRHDE semapv:UnspecifiedMatching +OMIM:606950 TRHDE skos:exactMatch ncbigene:29953 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch UMLS:C1537399 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch UMLS:C3888244 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch UMLS:C4225427 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:18873 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:IFIH1 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch ncbigene:64135 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch MONDO:0011749 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352731 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:79434 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch UMLS:C1439333 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch UMLS:C4017048 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch hgnc.symbol:4116 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch hgnc.symbol:GALE semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch ncbigene:2582 semapv:UnspecifiedMatching +OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:13497 semapv:UnspecifiedMatching +OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:ZNF253 semapv:UnspecifiedMatching +OMIM:606954 ZNF253 skos:exactMatch ncbigene:56242 semapv:UnspecifiedMatching +OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:13049 semapv:UnspecifiedMatching +OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:ZNF256 semapv:UnspecifiedMatching +OMIM:606956 ZNF256 skos:exactMatch ncbigene:10172 semapv:UnspecifiedMatching +OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:13498 semapv:UnspecifiedMatching +OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:ZNF257 semapv:UnspecifiedMatching +OMIM:606957 ZNF257 skos:exactMatch ncbigene:113835 semapv:UnspecifiedMatching +OMIM:606958 PALS1 skos:exactMatch hgnc.symbol:18669 semapv:UnspecifiedMatching +OMIM:606958 PALS1 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching +OMIM:606958 PALS1 skos:exactMatch ncbigene:64398 semapv:UnspecifiedMatching +OMIM:606959 PALS2 skos:exactMatch hgnc.symbol:18167 semapv:UnspecifiedMatching +OMIM:606959 PALS2 skos:exactMatch hgnc.symbol:PALS2 semapv:UnspecifiedMatching +OMIM:606959 PALS2 skos:exactMatch ncbigene:51678 semapv:UnspecifiedMatching +OMIM:606960 insulinoma tumor suppressor gene locus skos:exactMatch MONDO:0011750 semapv:UnspecifiedMatching +OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:12737 semapv:UnspecifiedMatching +OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:WBP1 semapv:UnspecifiedMatching +OMIM:606961 WBP1 skos:exactMatch ncbigene:23559 semapv:UnspecifiedMatching +OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:12738 semapv:UnspecifiedMatching +OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:WBP2 semapv:UnspecifiedMatching +OMIM:606962 WBP2 skos:exactMatch ncbigene:23558 semapv:UnspecifiedMatching +OMIM:606963 pulmonary disease, chronic obstructive skos:exactMatch MONDO:0005002 semapv:UnspecifiedMatching +OMIM:606964 STK38 skos:exactMatch hgnc.symbol:17847 semapv:UnspecifiedMatching +OMIM:606964 STK38 skos:exactMatch hgnc.symbol:STK38 semapv:UnspecifiedMatching +OMIM:606964 STK38 skos:exactMatch ncbigene:11329 semapv:UnspecifiedMatching +OMIM:606965 FASTK skos:exactMatch hgnc.symbol:24676 semapv:UnspecifiedMatching +OMIM:606965 FASTK skos:exactMatch hgnc.symbol:FASTK semapv:UnspecifiedMatching +OMIM:606965 FASTK skos:exactMatch ncbigene:10922 semapv:UnspecifiedMatching +OMIM:606966 nephronophthisis 4 skos:exactMatch MONDO:0011752 semapv:UnspecifiedMatching +OMIM:606967 LCAT skos:exactMatch hgnc.symbol:6522 semapv:UnspecifiedMatching +OMIM:606967 LCAT skos:exactMatch hgnc.symbol:LCAT semapv:UnspecifiedMatching +OMIM:606967 LCAT skos:exactMatch ncbigene:3931 semapv:UnspecifiedMatching +OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:24615 semapv:UnspecifiedMatching +OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:EEF2K semapv:UnspecifiedMatching +OMIM:606968 EEF2K skos:exactMatch ncbigene:29904 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch UMLS:C1423680 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:15717 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:GEMIN4 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch ncbigene:50628 semapv:UnspecifiedMatching +OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch MONDO:0011753 semapv:UnspecifiedMatching +OMIM:606973 COG1 skos:exactMatch hgnc.symbol:6545 semapv:UnspecifiedMatching +OMIM:606973 COG1 skos:exactMatch hgnc.symbol:COG1 semapv:UnspecifiedMatching +OMIM:606973 COG1 skos:exactMatch ncbigene:9382 semapv:UnspecifiedMatching +OMIM:606974 COG2 skos:exactMatch hgnc.symbol:6546 semapv:UnspecifiedMatching +OMIM:606974 COG2 skos:exactMatch hgnc.symbol:COG2 semapv:UnspecifiedMatching +OMIM:606974 COG2 skos:exactMatch ncbigene:22796 semapv:UnspecifiedMatching +OMIM:606975 COG3 skos:exactMatch hgnc.symbol:18619 semapv:UnspecifiedMatching +OMIM:606975 COG3 skos:exactMatch hgnc.symbol:COG3 semapv:UnspecifiedMatching +OMIM:606975 COG3 skos:exactMatch ncbigene:83548 semapv:UnspecifiedMatching +OMIM:606976 COG4 skos:exactMatch hgnc.symbol:18620 semapv:UnspecifiedMatching +OMIM:606976 COG4 skos:exactMatch hgnc.symbol:COG4 semapv:UnspecifiedMatching +OMIM:606976 COG4 skos:exactMatch ncbigene:25839 semapv:UnspecifiedMatching +OMIM:606977 COG6 skos:exactMatch hgnc.symbol:18621 semapv:UnspecifiedMatching +OMIM:606977 COG6 skos:exactMatch hgnc.symbol:COG6 semapv:UnspecifiedMatching +OMIM:606977 COG6 skos:exactMatch ncbigene:57511 semapv:UnspecifiedMatching +OMIM:606978 COG7 skos:exactMatch hgnc.symbol:18622 semapv:UnspecifiedMatching +OMIM:606978 COG7 skos:exactMatch hgnc.symbol:COG7 semapv:UnspecifiedMatching +OMIM:606978 COG7 skos:exactMatch ncbigene:91949 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch UMLS:C1425655 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch hgnc.symbol:18623 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch hgnc.symbol:COG8 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch ncbigene:84342 semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch UMLS:C1424564 semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:16812 semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:COQ8A semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch ncbigene:56997 semapv:UnspecifiedMatching +OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:4404 semapv:UnspecifiedMatching +OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:GNG2 semapv:UnspecifiedMatching +OMIM:606981 GNG2 skos:exactMatch ncbigene:54331 semapv:UnspecifiedMatching +OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:4249 semapv:UnspecifiedMatching +OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:GGPS1 semapv:UnspecifiedMatching +OMIM:606982 GGPS1 skos:exactMatch ncbigene:9453 semapv:UnspecifiedMatching +OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:16940 semapv:UnspecifiedMatching +OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:DGAT2 semapv:UnspecifiedMatching +OMIM:606983 DGAT2 skos:exactMatch ncbigene:84649 semapv:UnspecifiedMatching +OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 skos:exactMatch MONDO:0011754 semapv:UnspecifiedMatching +OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:1171 semapv:UnspecifiedMatching +OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:ELP4 semapv:UnspecifiedMatching +OMIM:606985 ELP4 skos:exactMatch ncbigene:26610 semapv:UnspecifiedMatching +OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:17031 semapv:UnspecifiedMatching +OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:GRK7 semapv:UnspecifiedMatching +OMIM:606987 GRK7 skos:exactMatch ncbigene:131890 semapv:UnspecifiedMatching +OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:17433 semapv:UnspecifiedMatching +OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:CHP1 semapv:UnspecifiedMatching +OMIM:606988 CHP1 skos:exactMatch ncbigene:11261 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C1417245 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch UMLS:C1969821 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch hgnc.symbol:7218 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch hgnc.symbol:MPO semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch ncbigene:4353 semapv:UnspecifiedMatching +OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:2232 semapv:UnspecifiedMatching +OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:COPB2 semapv:UnspecifiedMatching +OMIM:606990 COPB2 skos:exactMatch ncbigene:9276 semapv:UnspecifiedMatching +OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:18360 semapv:UnspecifiedMatching +OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:IP6K1 semapv:UnspecifiedMatching +OMIM:606991 IP6K1 skos:exactMatch ncbigene:9807 semapv:UnspecifiedMatching +OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:17313 semapv:UnspecifiedMatching +OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:IP6K2 semapv:UnspecifiedMatching +OMIM:606992 IP6K2 skos:exactMatch ncbigene:51447 semapv:UnspecifiedMatching +OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:17269 semapv:UnspecifiedMatching +OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:IP6K3 semapv:UnspecifiedMatching +OMIM:606993 IP6K3 skos:exactMatch ncbigene:117283 semapv:UnspecifiedMatching +OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:19297 semapv:UnspecifiedMatching +OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:TNK2 semapv:UnspecifiedMatching +OMIM:606994 TNK2 skos:exactMatch ncbigene:10188 semapv:UnspecifiedMatching +OMIM:606995 senior-loken syndrome 3 skos:exactMatch MONDO:0011755 semapv:UnspecifiedMatching +OMIM:606996 senior-loken syndrome 4 skos:exactMatch MONDO:0011756 semapv:UnspecifiedMatching +OMIM:606997 C1D skos:exactMatch hgnc.symbol:29911 semapv:UnspecifiedMatching +OMIM:606997 C1D skos:exactMatch hgnc.symbol:C1D semapv:UnspecifiedMatching +OMIM:606997 C1D skos:exactMatch ncbigene:10438 semapv:UnspecifiedMatching +OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:3757 semapv:UnspecifiedMatching +OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:FLOT1 semapv:UnspecifiedMatching +OMIM:606998 FLOT1 skos:exactMatch ncbigene:10211 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C1414962 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C3278146 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C4017050 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C4017051 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch UMLS:C4017052 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch hgnc.symbol:4135 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch hgnc.symbol:GALT semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch ncbigene:2592 semapv:UnspecifiedMatching +OMIM:607000 MED24 skos:exactMatch UMLS:C1427816 semapv:UnspecifiedMatching +OMIM:607000 MED24 skos:exactMatch hgnc.symbol:22963 semapv:UnspecifiedMatching +OMIM:607000 MED24 skos:exactMatch hgnc.symbol:MED24 semapv:UnspecifiedMatching +OMIM:607000 MED24 skos:exactMatch ncbigene:9862 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch UMLS:C0795833 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch UMLS:C1539338 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:24650 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:EHMT1 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch ncbigene:79813 semapv:UnspecifiedMatching +OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:18455 semapv:UnspecifiedMatching +OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:PROK2 semapv:UnspecifiedMatching +OMIM:607002 PROK2 skos:exactMatch ncbigene:60675 semapv:UnspecifiedMatching +OMIM:607003 TSLP skos:exactMatch hgnc.symbol:30743 semapv:UnspecifiedMatching +OMIM:607003 TSLP skos:exactMatch hgnc.symbol:TSLP semapv:UnspecifiedMatching +OMIM:607003 TSLP skos:exactMatch ncbigene:85480 semapv:UnspecifiedMatching +OMIM:607004 brachydactyly, iia a1, B skos:exactMatch MONDO:0011757 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch UMLS:C1426633 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:20043 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:GEMIN5 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch ncbigene:25929 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch UMLS:C1426634 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:20044 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:GEMIN6 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch ncbigene:79833 semapv:UnspecifiedMatching +OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:17145 semapv:UnspecifiedMatching +OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:SNAPIN semapv:UnspecifiedMatching +OMIM:607007 SNAPIN skos:exactMatch ncbigene:23557 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch UMLS:C0220710 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch UMLS:C1412107 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch UMLS:C4017054 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch hgnc.symbol:89 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch hgnc.symbol:ACADM semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch ncbigene:34 semapv:UnspecifiedMatching +OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:17995 semapv:UnspecifiedMatching +OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:TRPM6 semapv:UnspecifiedMatching +OMIM:607009 TRPM6 skos:exactMatch ncbigene:140803 semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch UMLS:C1539225 semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:18714 semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:DCP1A semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch ncbigene:55802 semapv:UnspecifiedMatching +OMIM:607011 USP17 skos:exactMatch hgnc.symbol:12615 semapv:UnspecifiedMatching +OMIM:607011 USP17 skos:exactMatch hgnc.symbol:USP17L9P semapv:UnspecifiedMatching +OMIM:607011 USP17 skos:exactMatch ncbigene:391627 semapv:UnspecifiedMatching +OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:13652 semapv:UnspecifiedMatching +OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:BDP1 semapv:UnspecifiedMatching +OMIM:607012 BDP1 skos:exactMatch ncbigene:55814 semapv:UnspecifiedMatching +OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:17298 semapv:UnspecifiedMatching +OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:BRF2 semapv:UnspecifiedMatching +OMIM:607013 BRF2 skos:exactMatch ncbigene:55290 semapv:UnspecifiedMatching +OMIM:607014 hurler syndrome skos:exactMatch MONDO:0011758 semapv:UnspecifiedMatching +OMIM:607015 hurler-scheie syndrome skos:exactMatch MONDO:0011759 semapv:UnspecifiedMatching +OMIM:607016 scheie syndrome skos:exactMatch MONDO:0011760 semapv:UnspecifiedMatching +OMIM:607017 deafness, autosomal dominant 21 skos:exactMatch MONDO:0011761 semapv:UnspecifiedMatching +OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:18582 semapv:UnspecifiedMatching +OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:ADGRL2 semapv:UnspecifiedMatching +OMIM:607018 ADGRL2 skos:exactMatch ncbigene:23266 semapv:UnspecifiedMatching +OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:14271 semapv:UnspecifiedMatching +OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:RASSF3 semapv:UnspecifiedMatching +OMIM:607019 RASSF3 skos:exactMatch ncbigene:283349 semapv:UnspecifiedMatching +OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:17609 semapv:UnspecifiedMatching +OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:RASSF5 semapv:UnspecifiedMatching +OMIM:607020 RASSF5 skos:exactMatch ncbigene:83593 semapv:UnspecifiedMatching +OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:10763 semapv:UnspecifiedMatching +OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:SEZ6L semapv:UnspecifiedMatching +OMIM:607021 SEZ6L skos:exactMatch ncbigene:23544 semapv:UnspecifiedMatching +OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:16234 semapv:UnspecifiedMatching +OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:CTCFL semapv:UnspecifiedMatching +OMIM:607022 CTCFL skos:exactMatch ncbigene:140690 semapv:UnspecifiedMatching +OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:19699 semapv:UnspecifiedMatching +OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:PLK2 semapv:UnspecifiedMatching +OMIM:607023 PLK2 skos:exactMatch ncbigene:10769 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch UMLS:C1423603 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:15594 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:DBR1 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch ncbigene:51163 semapv:UnspecifiedMatching +OMIM:607025 MELK skos:exactMatch hgnc.symbol:16870 semapv:UnspecifiedMatching +OMIM:607025 MELK skos:exactMatch hgnc.symbol:MELK semapv:UnspecifiedMatching +OMIM:607025 MELK skos:exactMatch ncbigene:9833 semapv:UnspecifiedMatching +OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:15997 semapv:UnspecifiedMatching +OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:NAV2 semapv:UnspecifiedMatching +OMIM:607026 NAV2 skos:exactMatch ncbigene:89797 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch UMLS:C1412672 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4693934 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:851 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:ATP6V1A semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch ncbigene:523 semapv:UnspecifiedMatching +OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:13724 semapv:UnspecifiedMatching +OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:ATP6V0D1 semapv:UnspecifiedMatching +OMIM:607028 ATP6V0D1 skos:exactMatch ncbigene:9114 semapv:UnspecifiedMatching +OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:12646 semapv:UnspecifiedMatching +OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:VAMP5 semapv:UnspecifiedMatching +OMIM:607029 VAMP5 skos:exactMatch ncbigene:10791 semapv:UnspecifiedMatching +OMIM:607030 GCA skos:exactMatch hgnc.symbol:15990 semapv:UnspecifiedMatching +OMIM:607030 GCA skos:exactMatch hgnc.symbol:GCA semapv:UnspecifiedMatching +OMIM:607030 GCA skos:exactMatch ncbigene:25801 semapv:UnspecifiedMatching +OMIM:607031 LIAS skos:exactMatch hgnc.symbol:16429 semapv:UnspecifiedMatching +OMIM:607031 LIAS skos:exactMatch hgnc.symbol:LIAS semapv:UnspecifiedMatching +OMIM:607031 LIAS skos:exactMatch ncbigene:11019 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch UMLS:C1846919 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:30045 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:SMG1 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch ncbigene:23049 semapv:UnspecifiedMatching +OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:17037 semapv:UnspecifiedMatching +OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:TFB1M semapv:UnspecifiedMatching +OMIM:607033 TFB1M skos:exactMatch ncbigene:51106 semapv:UnspecifiedMatching +OMIM:607035 SUFU skos:exactMatch hgnc.symbol:16466 semapv:UnspecifiedMatching +OMIM:607035 SUFU skos:exactMatch hgnc.symbol:SUFU semapv:UnspecifiedMatching +OMIM:607035 SUFU skos:exactMatch ncbigene:51684 semapv:UnspecifiedMatching +OMIM:607036 IVD skos:exactMatch hgnc.symbol:6186 semapv:UnspecifiedMatching +OMIM:607036 IVD skos:exactMatch hgnc.symbol:IVD semapv:UnspecifiedMatching +OMIM:607036 IVD skos:exactMatch ncbigene:3712 semapv:UnspecifiedMatching +OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:3247 semapv:UnspecifiedMatching +OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:EHHADH semapv:UnspecifiedMatching +OMIM:607037 EHHADH skos:exactMatch ncbigene:1962 semapv:UnspecifiedMatching +OMIM:607038 OTOA skos:exactMatch hgnc.symbol:16378 semapv:UnspecifiedMatching +OMIM:607038 OTOA skos:exactMatch hgnc.symbol:OTOA semapv:UnspecifiedMatching +OMIM:607038 OTOA skos:exactMatch ncbigene:146183 semapv:UnspecifiedMatching +OMIM:607039 deafness, autosomal recessive 22 skos:exactMatch MONDO:0011762 semapv:UnspecifiedMatching +OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:14639 semapv:UnspecifiedMatching +OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:ABCC11 semapv:UnspecifiedMatching +OMIM:607040 ABCC11 skos:exactMatch ncbigene:85320 semapv:UnspecifiedMatching +OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:14640 semapv:UnspecifiedMatching +OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:ABCC12 semapv:UnspecifiedMatching +OMIM:607041 ABCC12 skos:exactMatch ncbigene:94160 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch UMLS:C1413495 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch UMLS:C4017059 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:2074 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:CLN3 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch ncbigene:1201 semapv:UnspecifiedMatching +OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:1343 semapv:UnspecifiedMatching +OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:TRAF3IP2 semapv:UnspecifiedMatching +OMIM:607043 TRAF3IP2 skos:exactMatch ncbigene:10758 semapv:UnspecifiedMatching +OMIM:607044 t-box 24 skos:exactMatch MONDO:0011763 semapv:UnspecifiedMatching +OMIM:607045 RMST skos:exactMatch hgnc.symbol:29893 semapv:UnspecifiedMatching +OMIM:607045 RMST skos:exactMatch hgnc.symbol:RMST semapv:UnspecifiedMatching +OMIM:607045 RMST skos:exactMatch ncbigene:196475 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch UMLS:C1425230 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:18002 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:TOMM22 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch ncbigene:56993 semapv:UnspecifiedMatching +OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:7106 semapv:UnspecifiedMatching +OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:ATXN3 semapv:UnspecifiedMatching +OMIM:607047 ATXN3 skos:exactMatch ncbigene:4287 semapv:UnspecifiedMatching +OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:17579 semapv:UnspecifiedMatching +OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:STARD3 semapv:UnspecifiedMatching +OMIM:607048 STARD3 skos:exactMatch ncbigene:10948 semapv:UnspecifiedMatching +OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:18058 semapv:UnspecifiedMatching +OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:STARD4 semapv:UnspecifiedMatching +OMIM:607049 STARD4 skos:exactMatch ncbigene:134429 semapv:UnspecifiedMatching +OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:18065 semapv:UnspecifiedMatching +OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:STARD5 semapv:UnspecifiedMatching +OMIM:607050 STARD5 skos:exactMatch ncbigene:80765 semapv:UnspecifiedMatching +OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:18066 semapv:UnspecifiedMatching +OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:STARD6 semapv:UnspecifiedMatching +OMIM:607051 STARD6 skos:exactMatch ncbigene:147323 semapv:UnspecifiedMatching +OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:17034 semapv:UnspecifiedMatching +OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:TUSC2 semapv:UnspecifiedMatching +OMIM:607052 TUSC2 skos:exactMatch ncbigene:11334 semapv:UnspecifiedMatching +OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:8934 semapv:UnspecifiedMatching +OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:PHLDA3 semapv:UnspecifiedMatching +OMIM:607054 PHLDA3 skos:exactMatch ncbigene:23612 semapv:UnspecifiedMatching +OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:18559 semapv:UnspecifiedMatching +OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:TFB2M semapv:UnspecifiedMatching +OMIM:607055 TFB2M skos:exactMatch ncbigene:64216 semapv:UnspecifiedMatching +OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:18362 semapv:UnspecifiedMatching +OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:IMPG2 semapv:UnspecifiedMatching +OMIM:607056 IMPG2 skos:exactMatch ncbigene:50939 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch UMLS:C1421395 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch hgnc.symbol:12616 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch hgnc.symbol:USP18 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch ncbigene:11274 semapv:UnspecifiedMatching +OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:19154 semapv:UnspecifiedMatching +OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:GJD2 semapv:UnspecifiedMatching +OMIM:607058 GJD2 skos:exactMatch ncbigene:57369 semapv:UnspecifiedMatching +OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:17129 semapv:UnspecifiedMatching +OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:SLC39A4 semapv:UnspecifiedMatching +OMIM:607059 SLC39A4 skos:exactMatch ncbigene:55630 semapv:UnspecifiedMatching +OMIM:607060 parkinson disease 8, autosomal dominant skos:exactMatch MONDO:0011764 semapv:UnspecifiedMatching +OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:16049 semapv:UnspecifiedMatching +OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:PTGES3 semapv:UnspecifiedMatching +OMIM:607061 PTGES3 skos:exactMatch ncbigene:10728 semapv:UnspecifiedMatching +OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:3723 semapv:UnspecifiedMatching +OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:FKBP7 semapv:UnspecifiedMatching +OMIM:607062 FKBP7 skos:exactMatch ncbigene:51661 semapv:UnspecifiedMatching +OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:18169 semapv:UnspecifiedMatching +OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:FKBP10 semapv:UnspecifiedMatching +OMIM:607063 FKBP10 skos:exactMatch ncbigene:60681 semapv:UnspecifiedMatching +OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:8739 semapv:UnspecifiedMatching +OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:PCOLCE2 semapv:UnspecifiedMatching +OMIM:607064 PCOLCE2 skos:exactMatch ncbigene:26577 semapv:UnspecifiedMatching +OMIM:607065 QPCT skos:exactMatch hgnc.symbol:9753 semapv:UnspecifiedMatching +OMIM:607065 QPCT skos:exactMatch hgnc.symbol:QPCT semapv:UnspecifiedMatching +OMIM:607065 QPCT skos:exactMatch ncbigene:25797 semapv:UnspecifiedMatching +OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:18084 semapv:UnspecifiedMatching +OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:TRPV3 semapv:UnspecifiedMatching +OMIM:607066 TRPV3 skos:exactMatch ncbigene:162514 semapv:UnspecifiedMatching +OMIM:607067 STH skos:exactMatch hgnc.symbol:18839 semapv:UnspecifiedMatching +OMIM:607067 STH skos:exactMatch hgnc.symbol:STH semapv:UnspecifiedMatching +OMIM:607067 STH skos:exactMatch ncbigene:246744 semapv:UnspecifiedMatching +OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:30253 semapv:UnspecifiedMatching +OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:CYB561D2 semapv:UnspecifiedMatching +OMIM:607068 CYB561D2 skos:exactMatch ncbigene:11068 semapv:UnspecifiedMatching +OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:30055 semapv:UnspecifiedMatching +OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:TMEM115 semapv:UnspecifiedMatching +OMIM:607069 TMEM115 skos:exactMatch ncbigene:11070 semapv:UnspecifiedMatching +OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:19412 semapv:UnspecifiedMatching +OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:ZMYND10 semapv:UnspecifiedMatching +OMIM:607070 ZMYND10 skos:exactMatch ncbigene:51364 semapv:UnspecifiedMatching +OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:5320 semapv:UnspecifiedMatching +OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:HYAL1 semapv:UnspecifiedMatching +OMIM:607071 HYAL1 skos:exactMatch ncbigene:3373 semapv:UnspecifiedMatching +OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:24969 semapv:UnspecifiedMatching +OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:NPRL2 semapv:UnspecifiedMatching +OMIM:607072 NPRL2 skos:exactMatch ncbigene:10641 semapv:UnspecifiedMatching +OMIM:607073 NAA80 skos:exactMatch UMLS:C1538043 semapv:UnspecifiedMatching +OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:30252 semapv:UnspecifiedMatching +OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:NAA80 semapv:UnspecifiedMatching +OMIM:607073 NAA80 skos:exactMatch ncbigene:24142 semapv:UnspecifiedMatching +OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:17293 semapv:UnspecifiedMatching +OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:PRKD2 semapv:UnspecifiedMatching +OMIM:607074 PRKD2 skos:exactMatch ncbigene:25865 semapv:UnspecifiedMatching +OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:14634 semapv:UnspecifiedMatching +OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:PDAP1 semapv:UnspecifiedMatching +OMIM:607075 PDAP1 skos:exactMatch ncbigene:11333 semapv:UnspecifiedMatching +OMIM:607076 PI15 skos:exactMatch hgnc.symbol:8946 semapv:UnspecifiedMatching +OMIM:607076 PI15 skos:exactMatch hgnc.symbol:PI15 semapv:UnspecifiedMatching +OMIM:607076 PI15 skos:exactMatch ncbigene:51050 semapv:UnspecifiedMatching +OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:9408 semapv:UnspecifiedMatching +OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:PRKD3 semapv:UnspecifiedMatching +OMIM:607077 PRKCN skos:exactMatch ncbigene:23683 semapv:UnspecifiedMatching +OMIM:607078 epiphyseal dysplasia, multiple, 5 skos:exactMatch MONDO:0011765 semapv:UnspecifiedMatching +OMIM:607079 RHBG skos:exactMatch hgnc.symbol:14572 semapv:UnspecifiedMatching +OMIM:607079 RHBG skos:exactMatch hgnc.symbol:RHBG semapv:UnspecifiedMatching +OMIM:607079 RHBG skos:exactMatch ncbigene:57127 semapv:UnspecifiedMatching +OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch MONDO:0011766 semapv:UnspecifiedMatching +OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch Orphanet:168563 semapv:UnspecifiedMatching +OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching +OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:30683 semapv:UnspecifiedMatching +OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:TAPBPL semapv:UnspecifiedMatching +OMIM:607081 TAPBPL skos:exactMatch ncbigene:55080 semapv:UnspecifiedMatching +OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:1400 semapv:UnspecifiedMatching +OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:CACNA2D2 semapv:UnspecifiedMatching +OMIM:607082 CACNA2D2 skos:exactMatch ncbigene:9254 semapv:UnspecifiedMatching +OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:12767 semapv:UnspecifiedMatching +OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:NSD3 semapv:UnspecifiedMatching +OMIM:607083 NSD3 skos:exactMatch ncbigene:54904 semapv:UnspecifiedMatching +OMIM:607084 deafness, autosomal recessive 31 skos:exactMatch MONDO:0011767 semapv:UnspecifiedMatching +OMIM:607085 myasthenia gravis with thymus hyperplasia skos:exactMatch MONDO:0011768 semapv:UnspecifiedMatching +OMIM:607086 aortic aneurysm, familial thoracic 1 skos:exactMatch MONDO:0024559 semapv:UnspecifiedMatching +OMIM:607087 aortic aneurysm, familial thoracic 2 skos:exactMatch MONDO:0011770 semapv:UnspecifiedMatching +OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch MONDO:0011771 semapv:UnspecifiedMatching +OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:1587 semapv:UnspecifiedMatching +OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:CCNDBP1 semapv:UnspecifiedMatching +OMIM:607089 CCNDBP1 skos:exactMatch ncbigene:23582 semapv:UnspecifiedMatching +OMIM:607090 SYF2 skos:exactMatch UMLS:C1823161 semapv:UnspecifiedMatching +OMIM:607090 SYF2 skos:exactMatch hgnc.symbol:19824 semapv:UnspecifiedMatching +OMIM:607090 SYF2 skos:exactMatch hgnc.symbol:SYF2 semapv:UnspecifiedMatching +OMIM:607090 SYF2 skos:exactMatch ncbigene:25949 semapv:UnspecifiedMatching +OMIM:607091 congenital disorder of glycosylation, iia iid skos:exactMatch MONDO:0011772 semapv:UnspecifiedMatching +OMIM:607092 SPHK2 skos:exactMatch hgnc.symbol:18859 semapv:UnspecifiedMatching +OMIM:607092 SPHK2 skos:exactMatch hgnc.symbol:SPHK2 semapv:UnspecifiedMatching +OMIM:607092 SPHK2 skos:exactMatch ncbigene:56848 semapv:UnspecifiedMatching +OMIM:607093 MTHFR skos:exactMatch hgnc.symbol:7436 semapv:UnspecifiedMatching +OMIM:607093 MTHFR skos:exactMatch hgnc.symbol:MTHFR semapv:UnspecifiedMatching +OMIM:607093 MTHFR skos:exactMatch ncbigene:4524 semapv:UnspecifiedMatching +OMIM:607094 SOCS5 skos:exactMatch hgnc.symbol:16852 semapv:UnspecifiedMatching +OMIM:607094 SOCS5 skos:exactMatch hgnc.symbol:SOCS5 semapv:UnspecifiedMatching +OMIM:607094 SOCS5 skos:exactMatch ncbigene:9655 semapv:UnspecifiedMatching +OMIM:607095 anauxetic dysplasia 1 skos:exactMatch MONDO:0054560 semapv:UnspecifiedMatching +OMIM:607095 anauxetic dysplasia 1 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching +OMIM:607095 anauxetic dysplasia 1 skos:exactMatch UMLS:C1846796 semapv:UnspecifiedMatching +OMIM:607095 anauxetic dysplasia 1 skos:exactMatch UMLS:C4551965 semapv:UnspecifiedMatching +OMIM:607096 SLC22A12 skos:exactMatch hgnc.symbol:17989 semapv:UnspecifiedMatching +OMIM:607096 SLC22A12 skos:exactMatch hgnc.symbol:SLC22A12 semapv:UnspecifiedMatching +OMIM:607096 SLC22A12 skos:exactMatch ncbigene:116085 semapv:UnspecifiedMatching +OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:18120 semapv:UnspecifiedMatching +OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:SLC22A11 semapv:UnspecifiedMatching +OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch ncbigene:55867 semapv:UnspecifiedMatching +OMIM:607098 enolase alpha, lung-specific skos:exactMatch UMLS:C1846791 semapv:UnspecifiedMatching +OMIM:607099 HINFP skos:exactMatch hgnc.symbol:17850 semapv:UnspecifiedMatching +OMIM:607099 HINFP skos:exactMatch hgnc.symbol:HINFP semapv:UnspecifiedMatching +OMIM:607099 HINFP skos:exactMatch ncbigene:25988 semapv:UnspecifiedMatching +OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:7905 semapv:UnspecifiedMatching +OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:NPHP1 semapv:UnspecifiedMatching +OMIM:607100 NPHP1 skos:exactMatch ncbigene:4867 semapv:UnspecifiedMatching +OMIM:607101 deafness, autosomal recessive 30 skos:exactMatch MONDO:0011774 semapv:UnspecifiedMatching +OMIM:607102 WT1 skos:exactMatch hgnc.symbol:12796 semapv:UnspecifiedMatching +OMIM:607102 WT1 skos:exactMatch hgnc.symbol:WT1 semapv:UnspecifiedMatching +OMIM:607102 WT1 skos:exactMatch ncbigene:7490 semapv:UnspecifiedMatching +OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:782 semapv:UnspecifiedMatching +OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:ATE1 semapv:UnspecifiedMatching +OMIM:607103 ATE1 skos:exactMatch ncbigene:11101 semapv:UnspecifiedMatching +OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:19081 semapv:UnspecifiedMatching +OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:TNKS1BP1 semapv:UnspecifiedMatching +OMIM:607104 TNKS1BP1 skos:exactMatch ncbigene:85456 semapv:UnspecifiedMatching +OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:7890 semapv:UnspecifiedMatching +OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:NOX3 semapv:UnspecifiedMatching +OMIM:607105 NOX3 skos:exactMatch ncbigene:50508 semapv:UnspecifiedMatching +OMIM:607106 HM13 skos:exactMatch hgnc.symbol:16435 semapv:UnspecifiedMatching +OMIM:607106 HM13 skos:exactMatch hgnc.symbol:HM13 semapv:UnspecifiedMatching +OMIM:607106 HM13 skos:exactMatch ncbigene:81502 semapv:UnspecifiedMatching +OMIM:607107 nasopharyngeal carcinoma skos:exactMatch MONDO:0011775 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C0155299 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C1418276 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C1833797 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C1833798 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C3554721 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C3805349 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C3805604 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017065 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017066 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017067 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017070 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4017657 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4310841 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch UMLS:C4310884 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:8620 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:PAX6 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch ncbigene:5080 semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch UMLS:C1424917 semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:17343 semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:APOBEC3A semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch ncbigene:200315 semapv:UnspecifiedMatching +OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:17352 semapv:UnspecifiedMatching +OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:APOBEC3B semapv:UnspecifiedMatching +OMIM:607110 APOBEC3B skos:exactMatch ncbigene:9582 semapv:UnspecifiedMatching +OMIM:607111 SPART skos:exactMatch hgnc.symbol:18514 semapv:UnspecifiedMatching +OMIM:607111 SPART skos:exactMatch hgnc.symbol:SPART semapv:UnspecifiedMatching +OMIM:607111 SPART skos:exactMatch ncbigene:23111 semapv:UnspecifiedMatching +OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:13581 semapv:UnspecifiedMatching +OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:FBXO2 semapv:UnspecifiedMatching +OMIM:607112 FBXO2 skos:exactMatch ncbigene:26232 semapv:UnspecifiedMatching +OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:17357 semapv:UnspecifiedMatching +OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:APOBEC3G semapv:UnspecifiedMatching +OMIM:607113 APOBEC3G skos:exactMatch ncbigene:60489 semapv:UnspecifiedMatching +OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:15478 semapv:UnspecifiedMatching +OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:ADAM33 semapv:UnspecifiedMatching +OMIM:607114 ADAM33 skos:exactMatch ncbigene:80332 semapv:UnspecifiedMatching +OMIM:607115 cinca syndrome skos:exactMatch MONDO:0011776 semapv:UnspecifiedMatching +OMIM:607116 alzheimer disease 8 skos:exactMatch MONDO:0011777 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch UMLS:C1417075 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:6954 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:MCPH1 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch ncbigene:79648 semapv:UnspecifiedMatching +OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:10379 semapv:UnspecifiedMatching +OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:MRPL3 semapv:UnspecifiedMatching +OMIM:607118 MRPL3 skos:exactMatch ncbigene:11222 semapv:UnspecifiedMatching +OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:13432 semapv:UnspecifiedMatching +OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:RNF19A semapv:UnspecifiedMatching +OMIM:607119 RNF19A skos:exactMatch ncbigene:25897 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch UMLS:C1423830 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:15917 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:PLCB1 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch ncbigene:23236 semapv:UnspecifiedMatching +OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:4524 semapv:UnspecifiedMatching +OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:PROKR1 semapv:UnspecifiedMatching +OMIM:607122 PROKR1 skos:exactMatch ncbigene:10887 semapv:UnspecifiedMatching +OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:15836 semapv:UnspecifiedMatching +OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:PROKR2 semapv:UnspecifiedMatching +OMIM:607123 PROKR2 skos:exactMatch ncbigene:128674 semapv:UnspecifiedMatching +OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:9228 semapv:UnspecifiedMatching +OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:PLPP1 semapv:UnspecifiedMatching +OMIM:607124 PLPP1 skos:exactMatch ncbigene:8611 semapv:UnspecifiedMatching +OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:9229 semapv:UnspecifiedMatching +OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:PLPP3 semapv:UnspecifiedMatching +OMIM:607125 PLPP3 skos:exactMatch ncbigene:8613 semapv:UnspecifiedMatching +OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:9230 semapv:UnspecifiedMatching +OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:PLPP2 semapv:UnspecifiedMatching +OMIM:607126 PLPP2 skos:exactMatch ncbigene:8612 semapv:UnspecifiedMatching +OMIM:607127 ERC1 skos:exactMatch hgnc.symbol:17072 semapv:UnspecifiedMatching +OMIM:607127 ERC1 skos:exactMatch hgnc.symbol:ERC1 semapv:UnspecifiedMatching +OMIM:607127 ERC1 skos:exactMatch ncbigene:23085 semapv:UnspecifiedMatching +OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:15677 semapv:UnspecifiedMatching +OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:TNKS2 semapv:UnspecifiedMatching +OMIM:607128 TNKS2 skos:exactMatch ncbigene:80351 semapv:UnspecifiedMatching +OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:20619 semapv:UnspecifiedMatching +OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:MICAL1 semapv:UnspecifiedMatching +OMIM:607129 MICAL1 skos:exactMatch ncbigene:64780 semapv:UnspecifiedMatching +OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:30287 semapv:UnspecifiedMatching +OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:RPTOR semapv:UnspecifiedMatching +OMIM:607130 RPTOR skos:exactMatch ncbigene:57521 semapv:UnspecifiedMatching +OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch MONDO:0011778 semapv:UnspecifiedMatching +OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch Orphanet:166024 semapv:UnspecifiedMatching +OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching +OMIM:607132 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch MONDO:0011779 semapv:UnspecifiedMatching +OMIM:607134 specific language impairment 3 skos:exactMatch MONDO:0011780 semapv:UnspecifiedMatching +OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch MONDO:0011781 semapv:UnspecifiedMatching +OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching +OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching +OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:5037 semapv:UnspecifiedMatching +OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:HNRNPDL semapv:UnspecifiedMatching +OMIM:607137 HNRNPDL skos:exactMatch ncbigene:9987 semapv:UnspecifiedMatching +OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:18854 semapv:UnspecifiedMatching +OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:CREB3L4 semapv:UnspecifiedMatching +OMIM:607138 CREB3L4 skos:exactMatch ncbigene:148327 semapv:UnspecifiedMatching +OMIM:607139 FANCA skos:exactMatch hgnc.symbol:3582 semapv:UnspecifiedMatching +OMIM:607139 FANCA skos:exactMatch hgnc.symbol:FANCA semapv:UnspecifiedMatching +OMIM:607139 FANCA skos:exactMatch ncbigene:2175 semapv:UnspecifiedMatching +OMIM:607140 angioid streaks skos:exactMatch MONDO:0011782 semapv:UnspecifiedMatching +OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:18007 semapv:UnspecifiedMatching +OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:GLIPR2 semapv:UnspecifiedMatching +OMIM:607141 GLIPR2 skos:exactMatch ncbigene:152007 semapv:UnspecifiedMatching +OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch MONDO:0011783 semapv:UnspecifiedMatching +OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch Orphanet:79324 semapv:UnspecifiedMatching +OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch UMLS:C1426190 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:19358 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:ALG12 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch ncbigene:79087 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch UMLS:C1424906 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch UMLS:C3279756 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:17328 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:DTNBP1 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch ncbigene:84062 semapv:UnspecifiedMatching +OMIM:607146 PDZD3 skos:exactMatch hgnc.symbol:NHERF4 semapv:UnspecifiedMatching +OMIM:607146 PDZD3 skos:exactMatch ncbigene:79849 semapv:UnspecifiedMatching +OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:17664 semapv:UnspecifiedMatching +OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:NECTIN3 semapv:UnspecifiedMatching +OMIM:607147 NECTIN3 skos:exactMatch ncbigene:25945 semapv:UnspecifiedMatching +OMIM:607149 REXO2 skos:exactMatch UMLS:C1846690 semapv:UnspecifiedMatching +OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:17851 semapv:UnspecifiedMatching +OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:REXO2 semapv:UnspecifiedMatching +OMIM:607149 REXO2 skos:exactMatch ncbigene:25996 semapv:UnspecifiedMatching +OMIM:607150 FEV skos:exactMatch hgnc.symbol:18562 semapv:UnspecifiedMatching +OMIM:607150 FEV skos:exactMatch hgnc.symbol:FEV semapv:UnspecifiedMatching +OMIM:607150 FEV skos:exactMatch ncbigene:54738 semapv:UnspecifiedMatching +OMIM:607151 moyamoya disease 2 skos:exactMatch MONDO:0011784 semapv:UnspecifiedMatching +OMIM:607151 moyamoya disease 2 skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching +OMIM:607151 moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching +OMIM:607152 spastic paraplegia 19, autosomal dominant skos:exactMatch MONDO:0011785 semapv:UnspecifiedMatching +OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:23927 semapv:UnspecifiedMatching +OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:ITGB1BP1 semapv:UnspecifiedMatching +OMIM:607153 ITGB1BP1 skos:exactMatch ncbigene:9270 semapv:UnspecifiedMatching +OMIM:607154 allergic rhinitis skos:exactMatch MONDO:0100177 semapv:UnspecifiedMatching +OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch MONDO:0011787 semapv:UnspecifiedMatching +OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch Orphanet:34515 semapv:UnspecifiedMatching +OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching +OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:18080 semapv:UnspecifiedMatching +OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:ST3GAL6 semapv:UnspecifiedMatching +OMIM:607156 ST3GAL6 skos:exactMatch ncbigene:10402 semapv:UnspecifiedMatching +OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:15622 semapv:UnspecifiedMatching +OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:SIGLEC11 semapv:UnspecifiedMatching +OMIM:607157 SIGLEC11 skos:exactMatch ncbigene:114132 semapv:UnspecifiedMatching +OMIM:607158 VENTX skos:exactMatch hgnc.symbol:13639 semapv:UnspecifiedMatching +OMIM:607158 VENTX skos:exactMatch hgnc.symbol:VENTX semapv:UnspecifiedMatching +OMIM:607158 VENTX skos:exactMatch ncbigene:27287 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C1823956 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:16493 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:ZMIZ1 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch ncbigene:57178 semapv:UnspecifiedMatching +OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:16832 semapv:UnspecifiedMatching +OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:ATP6V1F semapv:UnspecifiedMatching +OMIM:607160 ATP6V1F skos:exactMatch ncbigene:9296 semapv:UnspecifiedMatching +OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull skos:exactMatch MONDO:0011788 semapv:UnspecifiedMatching +OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:17827 semapv:UnspecifiedMatching +OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:ST8SIA5 semapv:UnspecifiedMatching +OMIM:607162 ST8SIA5 skos:exactMatch ncbigene:29906 semapv:UnspecifiedMatching +OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:13869 semapv:UnspecifiedMatching +OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:LOXL3 semapv:UnspecifiedMatching +OMIM:607163 LOXL3 skos:exactMatch ncbigene:84695 semapv:UnspecifiedMatching +OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:15525 semapv:UnspecifiedMatching +OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:LBX2 semapv:UnspecifiedMatching +OMIM:607164 LBX2 skos:exactMatch ncbigene:85474 semapv:UnspecifiedMatching +OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:11699 semapv:UnspecifiedMatching +OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:SERINC3 semapv:UnspecifiedMatching +OMIM:607165 SERINC3 skos:exactMatch ncbigene:10955 semapv:UnspecifiedMatching +OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:14927 semapv:UnspecifiedMatching +OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:TSGA10 semapv:UnspecifiedMatching +OMIM:607166 TSGA10 skos:exactMatch ncbigene:80705 semapv:UnspecifiedMatching +OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:15468 semapv:UnspecifiedMatching +OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:DYNLRB1 semapv:UnspecifiedMatching +OMIM:607167 DYNLRB1 skos:exactMatch ncbigene:83658 semapv:UnspecifiedMatching +OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:15467 semapv:UnspecifiedMatching +OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:DYNLRB2 semapv:UnspecifiedMatching +OMIM:607168 DYNLRB2 skos:exactMatch ncbigene:83657 semapv:UnspecifiedMatching +OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:9480 semapv:UnspecifiedMatching +OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:PRSS16 semapv:UnspecifiedMatching +OMIM:607169 PRSS16 skos:exactMatch ncbigene:10279 semapv:UnspecifiedMatching +OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:14630 semapv:UnspecifiedMatching +OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:CRELD1 semapv:UnspecifiedMatching +OMIM:607170 CRELD1 skos:exactMatch ncbigene:78987 semapv:UnspecifiedMatching +OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:28150 semapv:UnspecifiedMatching +OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:CRELD2 semapv:UnspecifiedMatching +OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch ncbigene:79174 semapv:UnspecifiedMatching +OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:19184 semapv:UnspecifiedMatching +OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:STK11IP semapv:UnspecifiedMatching +OMIM:607172 STK11IP skos:exactMatch ncbigene:114790 semapv:UnspecifiedMatching +OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:16889 semapv:UnspecifiedMatching +OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:PSMD14 semapv:UnspecifiedMatching +OMIM:607173 PSMD14 skos:exactMatch ncbigene:10213 semapv:UnspecifiedMatching +OMIM:607174 meningioma, familial, susceptibility to skos:exactMatch MONDO:0011789 semapv:UnspecifiedMatching +OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:17909 semapv:UnspecifiedMatching +OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:DUSP16 semapv:UnspecifiedMatching +OMIM:607175 DUSP16 skos:exactMatch ncbigene:80824 semapv:UnspecifiedMatching +OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:13248 semapv:UnspecifiedMatching +OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:CALN1 semapv:UnspecifiedMatching +OMIM:607176 CALN1 skos:exactMatch ncbigene:83698 semapv:UnspecifiedMatching +OMIM:607177 IER5 skos:exactMatch hgnc.symbol:5393 semapv:UnspecifiedMatching +OMIM:607177 IER5 skos:exactMatch hgnc.symbol:IER5 semapv:UnspecifiedMatching +OMIM:607177 IER5 skos:exactMatch ncbigene:51278 semapv:UnspecifiedMatching +OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:16887 semapv:UnspecifiedMatching +OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:PDZK1IP1 semapv:UnspecifiedMatching +OMIM:607178 PDZK1IP1 skos:exactMatch ncbigene:10158 semapv:UnspecifiedMatching +OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:9898 semapv:UnspecifiedMatching +OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:RBM12 semapv:UnspecifiedMatching +OMIM:607179 RBM12 skos:exactMatch ncbigene:10137 semapv:UnspecifiedMatching +OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:14676 semapv:UnspecifiedMatching +OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:LRRC2 semapv:UnspecifiedMatching +OMIM:607180 LRRC2 skos:exactMatch ncbigene:79442 semapv:UnspecifiedMatching +OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:15572 semapv:UnspecifiedMatching +OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:RTP3 semapv:UnspecifiedMatching +OMIM:607181 RTP3 skos:exactMatch ncbigene:83597 semapv:UnspecifiedMatching +OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:14673 semapv:UnspecifiedMatching +OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:FYCO1 semapv:UnspecifiedMatching +OMIM:607182 FYCO1 skos:exactMatch ncbigene:79443 semapv:UnspecifiedMatching +OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:10703 semapv:UnspecifiedMatching +OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:SEC24A semapv:UnspecifiedMatching +OMIM:607183 SEC24A skos:exactMatch ncbigene:10802 semapv:UnspecifiedMatching +OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:10704 semapv:UnspecifiedMatching +OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:SEC24B semapv:UnspecifiedMatching +OMIM:607184 SEC24B skos:exactMatch ncbigene:10427 semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch UMLS:C1419929 semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:10705 semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:SEC24C semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch ncbigene:9632 semapv:UnspecifiedMatching +OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:10706 semapv:UnspecifiedMatching +OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:SEC24D semapv:UnspecifiedMatching +OMIM:607186 SEC24D skos:exactMatch ncbigene:9871 semapv:UnspecifiedMatching +OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:10862 semapv:UnspecifiedMatching +OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:ST3GAL1 semapv:UnspecifiedMatching +OMIM:607187 ST3GAL1 skos:exactMatch ncbigene:6482 semapv:UnspecifiedMatching +OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:10863 semapv:UnspecifiedMatching +OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:ST3GAL2 semapv:UnspecifiedMatching +OMIM:607188 ST3GAL2 skos:exactMatch ncbigene:6483 semapv:UnspecifiedMatching +OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:16810 semapv:UnspecifiedMatching +OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:RGS8 semapv:UnspecifiedMatching +OMIM:607189 RGS8 skos:exactMatch ncbigene:85397 semapv:UnspecifiedMatching +OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:9995 semapv:UnspecifiedMatching +OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:RGS13 semapv:UnspecifiedMatching +OMIM:607190 RGS13 skos:exactMatch ncbigene:6003 semapv:UnspecifiedMatching +OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:14088 semapv:UnspecifiedMatching +OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:RGS17 semapv:UnspecifiedMatching +OMIM:607191 RGS17 skos:exactMatch ncbigene:26575 semapv:UnspecifiedMatching +OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:14261 semapv:UnspecifiedMatching +OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:RGS18 semapv:UnspecifiedMatching +OMIM:607192 RGS18 skos:exactMatch ncbigene:64407 semapv:UnspecifiedMatching +OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:14600 semapv:UnspecifiedMatching +OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:RGS20 semapv:UnspecifiedMatching +OMIM:607193 RGS20 skos:exactMatch ncbigene:8601 semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch UMLS:C1428235 semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:23734 semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:PTF1A semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch ncbigene:256297 semapv:UnspecifiedMatching +OMIM:607196 microcephaly, amish iia skos:exactMatch MONDO:0011790 semapv:UnspecifiedMatching +OMIM:607196 microcephaly, amish iia skos:exactMatch Orphanet:99742 semapv:UnspecifiedMatching +OMIM:607196 microcephaly, amish iia skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching +OMIM:607197 deafness, autosomal recessive skos:exactMatch MONDO:0019588 semapv:UnspecifiedMatching +OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:18884 semapv:UnspecifiedMatching +OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:TDP1 semapv:UnspecifiedMatching +OMIM:607198 TDP1 skos:exactMatch ncbigene:55775 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch UMLS:C1416474 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch UMLS:C4551864 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:6121 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:IRF6 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch ncbigene:3664 semapv:UnspecifiedMatching +OMIM:607200 thyroid dyshormonogenesis 6 skos:exactMatch MONDO:0011792 semapv:UnspecifiedMatching +OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:5047 semapv:UnspecifiedMatching +OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:HNRNPR semapv:UnspecifiedMatching +OMIM:607201 HNRNPR skos:exactMatch ncbigene:10236 semapv:UnspecifiedMatching +OMIM:607202 celiac disease, susceptibility to, 5 skos:exactMatch MONDO:0011793 semapv:UnspecifiedMatching +OMIM:607203 SAV1 skos:exactMatch UMLS:C1425082 semapv:UnspecifiedMatching +OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:17795 semapv:UnspecifiedMatching +OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:SAV1 semapv:UnspecifiedMatching +OMIM:607203 SAV1 skos:exactMatch ncbigene:60485 semapv:UnspecifiedMatching +OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:14957 semapv:UnspecifiedMatching +OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:PUM1 semapv:UnspecifiedMatching +OMIM:607204 PUM1 skos:exactMatch ncbigene:9698 semapv:UnspecifiedMatching +OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:14958 semapv:UnspecifiedMatching +OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:PUM2 semapv:UnspecifiedMatching +OMIM:607205 PUM2 skos:exactMatch ncbigene:23369 semapv:UnspecifiedMatching +OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:13743 semapv:UnspecifiedMatching +OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:ALOXE3 semapv:UnspecifiedMatching +OMIM:607206 ALOXE3 skos:exactMatch ncbigene:59344 semapv:UnspecifiedMatching +OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:11427 semapv:UnspecifiedMatching +OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:STUB1 semapv:UnspecifiedMatching +OMIM:607207 STUB1 skos:exactMatch ncbigene:10273 semapv:UnspecifiedMatching +OMIM:607208 dravet syndrome skos:exactMatch MONDO:0100079 semapv:UnspecifiedMatching +OMIM:607208 dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching +OMIM:607208 dravet syndrome skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch UMLS:C1424267 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:16422 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:CARD10 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch ncbigene:29775 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C1424244 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C4539957 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C4540578 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch UMLS:C4551967 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:16393 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:CARD11 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch ncbigene:84433 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch UMLS:C0032027 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch UMLS:C1424286 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch UMLS:C1864497 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch UMLS:C4017074 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:16446 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:CARD14 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch ncbigene:79092 semapv:UnspecifiedMatching +OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:16391 semapv:UnspecifiedMatching +OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:CARD9 semapv:UnspecifiedMatching +OMIM:607212 CARD9 skos:exactMatch ncbigene:64170 semapv:UnspecifiedMatching +OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:17151 semapv:UnspecifiedMatching +OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:ORC6 semapv:UnspecifiedMatching +OMIM:607213 ORC6 skos:exactMatch ncbigene:23594 semapv:UnspecifiedMatching +OMIM:607214 anonychia, total, with microcephaly skos:exactMatch MONDO:0011795 semapv:UnspecifiedMatching +OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:19104 semapv:UnspecifiedMatching +OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:NPHP4 semapv:UnspecifiedMatching +OMIM:607215 NPHP4 skos:exactMatch ncbigene:261734 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch UMLS:C1426154 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:19307 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:SDK1 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch ncbigene:221935 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch UMLS:C1426155 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:19308 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:SDK2 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch ncbigene:54549 semapv:UnspecifiedMatching +OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:6120 semapv:UnspecifiedMatching +OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:IRF5 semapv:UnspecifiedMatching +OMIM:607218 IRF5 skos:exactMatch ncbigene:3663 semapv:UnspecifiedMatching +OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:2175 semapv:UnspecifiedMatching +OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:CNTN5 semapv:UnspecifiedMatching +OMIM:607219 CNTN5 skos:exactMatch ncbigene:53942 semapv:UnspecifiedMatching +OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:2176 semapv:UnspecifiedMatching +OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:CNTN6 semapv:UnspecifiedMatching +OMIM:607220 CNTN6 skos:exactMatch ncbigene:27255 semapv:UnspecifiedMatching +OMIM:607221 epilepsy, partial, with pericentral spikes skos:exactMatch MONDO:0011796 semapv:UnspecifiedMatching +OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:13620 semapv:UnspecifiedMatching +OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:FBH1 semapv:UnspecifiedMatching +OMIM:607222 FBXO18 skos:exactMatch ncbigene:84893 semapv:UnspecifiedMatching +OMIM:607223 SMOC2 skos:exactMatch hgnc.symbol:20323 semapv:UnspecifiedMatching +OMIM:607223 SMOC2 skos:exactMatch hgnc.symbol:SMOC2 semapv:UnspecifiedMatching +OMIM:607223 SMOC2 skos:exactMatch ncbigene:64094 semapv:UnspecifiedMatching +OMIM:607224 ORAOV1 skos:exactMatch hgnc.symbol:17589 semapv:UnspecifiedMatching +OMIM:607224 ORAOV1 skos:exactMatch hgnc.symbol:LTO1 semapv:UnspecifiedMatching +OMIM:607224 ORAOV1 skos:exactMatch ncbigene:220064 semapv:UnspecifiedMatching +OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch MONDO:0011797 semapv:UnspecifiedMatching +OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch Orphanet:293168 semapv:UnspecifiedMatching +OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching +OMIM:607226 HDAC11 skos:exactMatch UMLS:C1426002 semapv:UnspecifiedMatching +OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:19086 semapv:UnspecifiedMatching +OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:HDAC11 semapv:UnspecifiedMatching +OMIM:607226 HDAC11 skos:exactMatch ncbigene:79885 semapv:UnspecifiedMatching +OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:17962 semapv:UnspecifiedMatching +OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:MRGPRX1 semapv:UnspecifiedMatching +OMIM:607227 MRGPRX1 skos:exactMatch ncbigene:259249 semapv:UnspecifiedMatching +OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:17983 semapv:UnspecifiedMatching +OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:MRGPRX2 semapv:UnspecifiedMatching +OMIM:607228 MRGPRX2 skos:exactMatch ncbigene:117194 semapv:UnspecifiedMatching +OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:17980 semapv:UnspecifiedMatching +OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:MRGPRX3 semapv:UnspecifiedMatching +OMIM:607229 MRGPRX3 skos:exactMatch ncbigene:117195 semapv:UnspecifiedMatching +OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:17617 semapv:UnspecifiedMatching +OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:MRGPRX4 semapv:UnspecifiedMatching +OMIM:607230 MRGPRX4 skos:exactMatch ncbigene:117196 semapv:UnspecifiedMatching +OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:29626 semapv:UnspecifiedMatching +OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:MRGPRD semapv:UnspecifiedMatching +OMIM:607231 MRGPRD skos:exactMatch ncbigene:116512 semapv:UnspecifiedMatching +OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:30694 semapv:UnspecifiedMatching +OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:MRGPRE semapv:UnspecifiedMatching +OMIM:607232 MRGPRE skos:exactMatch ncbigene:116534 semapv:UnspecifiedMatching +OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:24828 semapv:UnspecifiedMatching +OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:MRGPRF semapv:UnspecifiedMatching +OMIM:607233 MRGPRF skos:exactMatch ncbigene:116535 semapv:UnspecifiedMatching +OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:24829 semapv:UnspecifiedMatching +OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:MRGPRG semapv:UnspecifiedMatching +OMIM:607234 MRGPRG skos:exactMatch ncbigene:386746 semapv:UnspecifiedMatching +OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:13961 semapv:UnspecifiedMatching +OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:MAS1L semapv:UnspecifiedMatching +OMIM:607235 MAS1L skos:exactMatch ncbigene:116511 semapv:UnspecifiedMatching +OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch MONDO:0011798 semapv:UnspecifiedMatching +OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch Orphanet:157855 semapv:UnspecifiedMatching +OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch UMLS:C1846582 semapv:UnspecifiedMatching +OMIM:607237 TMIE skos:exactMatch hgnc.symbol:30800 semapv:UnspecifiedMatching +OMIM:607237 TMIE skos:exactMatch hgnc.symbol:TMIE semapv:UnspecifiedMatching +OMIM:607237 TMIE skos:exactMatch ncbigene:259236 semapv:UnspecifiedMatching +OMIM:607238 COMMD1 skos:exactMatch UMLS:C1427858 semapv:UnspecifiedMatching +OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:23024 semapv:UnspecifiedMatching +OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:COMMD1 semapv:UnspecifiedMatching +OMIM:607238 COMMD1 skos:exactMatch ncbigene:150684 semapv:UnspecifiedMatching +OMIM:607239 deafness, autosomal recessive 33 skos:exactMatch MONDO:0011799 semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch UMLS:C1822692 semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:29489 semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:KMT5A semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch ncbigene:387893 semapv:UnspecifiedMatching +OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:19215 semapv:UnspecifiedMatching +OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:FDCSP semapv:UnspecifiedMatching +OMIM:607241 FDCSP skos:exactMatch ncbigene:260436 semapv:UnspecifiedMatching +OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:562 semapv:UnspecifiedMatching +OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:AP2A2 semapv:UnspecifiedMatching +OMIM:607242 AP2A2 skos:exactMatch ncbigene:161 semapv:UnspecifiedMatching +OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:575 semapv:UnspecifiedMatching +OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:AP4S1 semapv:UnspecifiedMatching +OMIM:607243 AP4S1 skos:exactMatch ncbigene:11154 semapv:UnspecifiedMatching +OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:573 semapv:UnspecifiedMatching +OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:AP4E1 semapv:UnspecifiedMatching +OMIM:607244 AP4E1 skos:exactMatch ncbigene:23431 semapv:UnspecifiedMatching +OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:572 semapv:UnspecifiedMatching +OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:AP4B1 semapv:UnspecifiedMatching +OMIM:607245 AP4B1 skos:exactMatch ncbigene:10717 semapv:UnspecifiedMatching +OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:568 semapv:UnspecifiedMatching +OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:AP3D1 semapv:UnspecifiedMatching +OMIM:607246 AP3D1 skos:exactMatch ncbigene:8943 semapv:UnspecifiedMatching +OMIM:607247 CHODL skos:exactMatch hgnc.symbol:17807 semapv:UnspecifiedMatching +OMIM:607247 CHODL skos:exactMatch hgnc.symbol:CHODL semapv:UnspecifiedMatching +OMIM:607247 CHODL skos:exactMatch ncbigene:140578 semapv:UnspecifiedMatching +OMIM:607248 glioma susceptibility 4 skos:exactMatch MONDO:0011800 semapv:UnspecifiedMatching +OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:18810 semapv:UnspecifiedMatching +OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:CATSPER2 semapv:UnspecifiedMatching +OMIM:607249 CATSPER2 skos:exactMatch ncbigene:117155 semapv:UnspecifiedMatching +OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch MONDO:0011801 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch UMLS:C1424897 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:17317 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:TIMM22 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch ncbigene:29928 semapv:UnspecifiedMatching +OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:619 semapv:UnspecifiedMatching +OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:APOL2 semapv:UnspecifiedMatching +OMIM:607252 APOL2 skos:exactMatch ncbigene:23780 semapv:UnspecifiedMatching +OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:14868 semapv:UnspecifiedMatching +OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:APOL3 semapv:UnspecifiedMatching +OMIM:607253 APOL3 skos:exactMatch ncbigene:80833 semapv:UnspecifiedMatching +OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:14867 semapv:UnspecifiedMatching +OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:APOL4 semapv:UnspecifiedMatching +OMIM:607254 APOL4 skos:exactMatch ncbigene:80832 semapv:UnspecifiedMatching +OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:14869 semapv:UnspecifiedMatching +OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:APOL5 semapv:UnspecifiedMatching +OMIM:607255 APOL5 skos:exactMatch ncbigene:80831 semapv:UnspecifiedMatching +OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:14870 semapv:UnspecifiedMatching +OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:APOL6 semapv:UnspecifiedMatching +OMIM:607256 APOL6 skos:exactMatch ncbigene:80830 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch UMLS:C1424266 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:16421 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:SOX6 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch ncbigene:55553 semapv:UnspecifiedMatching +OMIM:607258 hypercalciuria, absorptive, 1 skos:exactMatch MONDO:0011802 semapv:UnspecifiedMatching +OMIM:607259 spastic paraplegia 7, autosomal recessive skos:exactMatch MONDO:0011803 semapv:UnspecifiedMatching +OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:30054 semapv:UnspecifiedMatching +OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:LGALS14 semapv:UnspecifiedMatching +OMIM:607260 placental protein 13-like protein skos:exactMatch ncbigene:56891 semapv:UnspecifiedMatching +OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:19747 semapv:UnspecifiedMatching +OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:EVC2 semapv:UnspecifiedMatching +OMIM:607261 EVC2 skos:exactMatch ncbigene:132884 semapv:UnspecifiedMatching +OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:21604 semapv:UnspecifiedMatching +OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:EPN1 semapv:UnspecifiedMatching +OMIM:607262 EPN1 skos:exactMatch ncbigene:29924 semapv:UnspecifiedMatching +OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:18639 semapv:UnspecifiedMatching +OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:EPN2 semapv:UnspecifiedMatching +OMIM:607263 EPN2 skos:exactMatch ncbigene:22905 semapv:UnspecifiedMatching +OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:18235 semapv:UnspecifiedMatching +OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:EPN3 semapv:UnspecifiedMatching +OMIM:607264 EPN3 skos:exactMatch ncbigene:55040 semapv:UnspecifiedMatching +OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:23186 semapv:UnspecifiedMatching +OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:CLINT1 semapv:UnspecifiedMatching +OMIM:607265 CLINT1 skos:exactMatch ncbigene:9685 semapv:UnspecifiedMatching +OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:13546 semapv:UnspecifiedMatching +OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:POLE3 semapv:UnspecifiedMatching +OMIM:607267 POLE3 skos:exactMatch ncbigene:54107 semapv:UnspecifiedMatching +OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:13544 semapv:UnspecifiedMatching +OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:CHRAC1 semapv:UnspecifiedMatching +OMIM:607268 CHRAC1 skos:exactMatch ncbigene:54108 semapv:UnspecifiedMatching +OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:18755 semapv:UnspecifiedMatching +OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:POLE4 semapv:UnspecifiedMatching +OMIM:607269 POLE4 skos:exactMatch ncbigene:56655 semapv:UnspecifiedMatching +OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:14262 semapv:UnspecifiedMatching +OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:AUTS2 semapv:UnspecifiedMatching +OMIM:607270 AUTS2 skos:exactMatch ncbigene:26053 semapv:UnspecifiedMatching +OMIM:607271 caspase 8 deficiency skos:exactMatch MONDO:0011804 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch UMLS:C1424628 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:16909 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:NDC80 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch ncbigene:10403 semapv:UnspecifiedMatching +OMIM:607273 FLCN skos:exactMatch hgnc.symbol:27310 semapv:UnspecifiedMatching +OMIM:607273 FLCN skos:exactMatch hgnc.symbol:FLCN semapv:UnspecifiedMatching +OMIM:607273 FLCN skos:exactMatch ncbigene:201163 semapv:UnspecifiedMatching +OMIM:607274 USP14 skos:exactMatch hgnc.symbol:12612 semapv:UnspecifiedMatching +OMIM:607274 USP14 skos:exactMatch hgnc.symbol:USP14 semapv:UnspecifiedMatching +OMIM:607274 USP14 skos:exactMatch ncbigene:9097 semapv:UnspecifiedMatching +OMIM:607275 HOPX skos:exactMatch hgnc.symbol:24961 semapv:UnspecifiedMatching +OMIM:607275 HOPX skos:exactMatch hgnc.symbol:HOPX semapv:UnspecifiedMatching +OMIM:607275 HOPX skos:exactMatch ncbigene:84525 semapv:UnspecifiedMatching +OMIM:607277 asthma-related traits, susceptibility to, 1 skos:exactMatch MONDO:0011805 semapv:UnspecifiedMatching +OMIM:607278 osteofibrous dysplasia, susceptibility to skos:exactMatch MONDO:0011806 semapv:UnspecifiedMatching +OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch MONDO:0011807 semapv:UnspecifiedMatching +OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:2174 semapv:UnspecifiedMatching +OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:CNTN4 semapv:UnspecifiedMatching +OMIM:607280 CNTN4 skos:exactMatch ncbigene:152330 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch UMLS:C1426957 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:20472 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:LSM1 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch ncbigene:27257 semapv:UnspecifiedMatching +OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:13940 semapv:UnspecifiedMatching +OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:LSM2 semapv:UnspecifiedMatching +OMIM:607282 LSM2 skos:exactMatch ncbigene:57819 semapv:UnspecifiedMatching +OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:17874 semapv:UnspecifiedMatching +OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:LSM3 semapv:UnspecifiedMatching +OMIM:607283 LSM3 skos:exactMatch ncbigene:27258 semapv:UnspecifiedMatching +OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:17259 semapv:UnspecifiedMatching +OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:LSM4 semapv:UnspecifiedMatching +OMIM:607284 LSM4 skos:exactMatch ncbigene:25804 semapv:UnspecifiedMatching +OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:17162 semapv:UnspecifiedMatching +OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:LSM5 semapv:UnspecifiedMatching +OMIM:607285 LSM5 skos:exactMatch ncbigene:23658 semapv:UnspecifiedMatching +OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:17017 semapv:UnspecifiedMatching +OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:LSM6 semapv:UnspecifiedMatching +OMIM:607286 LSM6 skos:exactMatch ncbigene:11157 semapv:UnspecifiedMatching +OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:20470 semapv:UnspecifiedMatching +OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:LSM7 semapv:UnspecifiedMatching +OMIM:607287 LSM7 skos:exactMatch ncbigene:51690 semapv:UnspecifiedMatching +OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:20471 semapv:UnspecifiedMatching +OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:LSM8 semapv:UnspecifiedMatching +OMIM:607288 LSM8 skos:exactMatch ncbigene:51691 semapv:UnspecifiedMatching +OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:18561 semapv:UnspecifiedMatching +OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:BLOC1S5 semapv:UnspecifiedMatching +OMIM:607289 BLOC1S5 skos:exactMatch ncbigene:63915 semapv:UnspecifiedMatching +OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:30376 semapv:UnspecifiedMatching +OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:SHISA5 semapv:UnspecifiedMatching +OMIM:607290 SHISA5 skos:exactMatch ncbigene:51246 semapv:UnspecifiedMatching +OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:557 semapv:UnspecifiedMatching +OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:SYNRG semapv:UnspecifiedMatching +OMIM:607291 SYNRG skos:exactMatch ncbigene:11276 semapv:UnspecifiedMatching +OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:10729 semapv:UnspecifiedMatching +OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:SEMA4A semapv:UnspecifiedMatching +OMIM:607292 SEMA4A skos:exactMatch ncbigene:64218 semapv:UnspecifiedMatching +OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:13517 semapv:UnspecifiedMatching +OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:CLIC5 semapv:UnspecifiedMatching +OMIM:607293 CLIC5 skos:exactMatch ncbigene:53405 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch UMLS:C1423713 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:15764 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:TGIF2 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch ncbigene:60436 semapv:UnspecifiedMatching +OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:18150 semapv:UnspecifiedMatching +OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:MYO18B semapv:UnspecifiedMatching +OMIM:607295 MYO18B skos:exactMatch ncbigene:84700 semapv:UnspecifiedMatching +OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:864 semapv:UnspecifiedMatching +OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:ATP6V1G1 semapv:UnspecifiedMatching +OMIM:607296 ATP6V1G1 skos:exactMatch ncbigene:9550 semapv:UnspecifiedMatching +OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:7825 semapv:UnspecifiedMatching +OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:NINJ2 semapv:UnspecifiedMatching +OMIM:607297 NINJ2 skos:exactMatch ncbigene:4815 semapv:UnspecifiedMatching +OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:14131 semapv:UnspecifiedMatching +OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:GNG13 semapv:UnspecifiedMatching +OMIM:607298 GNG13 skos:exactMatch ncbigene:51764 semapv:UnspecifiedMatching +OMIM:607299 DNER skos:exactMatch hgnc.symbol:24456 semapv:UnspecifiedMatching +OMIM:607299 DNER skos:exactMatch hgnc.symbol:DNER semapv:UnspecifiedMatching +OMIM:607299 DNER skos:exactMatch ncbigene:92737 semapv:UnspecifiedMatching +OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:17340 semapv:UnspecifiedMatching +OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:PRPF8 semapv:UnspecifiedMatching +OMIM:607300 PRPF8 skos:exactMatch ncbigene:10594 semapv:UnspecifiedMatching +OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:17348 semapv:UnspecifiedMatching +OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:PRPF3 semapv:UnspecifiedMatching +OMIM:607301 PRPF3 skos:exactMatch ncbigene:9129 semapv:UnspecifiedMatching +OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:16989 semapv:UnspecifiedMatching +OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:MORF4L1 semapv:UnspecifiedMatching +OMIM:607303 MORF4L1 skos:exactMatch ncbigene:10933 semapv:UnspecifiedMatching +OMIM:607304 cataract 27 skos:exactMatch MONDO:0011808 semapv:UnspecifiedMatching +OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:29633 semapv:UnspecifiedMatching +OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:MDS2 semapv:UnspecifiedMatching +OMIM:607305 mds2 gene skos:exactMatch ncbigene:259283 semapv:UnspecifiedMatching +OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:11285 semapv:UnspecifiedMatching +OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:SRD5A2 semapv:UnspecifiedMatching +OMIM:607306 SRD5A2 skos:exactMatch ncbigene:6716 semapv:UnspecifiedMatching +OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:21015 semapv:UnspecifiedMatching +OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:FILIP1 semapv:UnspecifiedMatching +OMIM:607307 FILIP1 skos:exactMatch ncbigene:27145 semapv:UnspecifiedMatching +OMIM:607308 mammographic density skos:exactMatch MONDO:0011809 semapv:UnspecifiedMatching +OMIM:607308 mammographic density skos:exactMatch UMLS:C1268717 semapv:UnspecifiedMatching +OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:558 semapv:UnspecifiedMatching +OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:AP1M2 semapv:UnspecifiedMatching +OMIM:607309 AP1M2 skos:exactMatch ncbigene:10053 semapv:UnspecifiedMatching +OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:214 semapv:UnspecifiedMatching +OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:ADAM7 semapv:UnspecifiedMatching +OMIM:607310 ADAM7 skos:exactMatch ncbigene:8756 semapv:UnspecifiedMatching +OMIM:607311 PGR skos:exactMatch hgnc.symbol:8910 semapv:UnspecifiedMatching +OMIM:607311 PGR skos:exactMatch hgnc.symbol:PGR semapv:UnspecifiedMatching +OMIM:607311 PGR skos:exactMatch ncbigene:5241 semapv:UnspecifiedMatching +OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:23721 semapv:UnspecifiedMatching +OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:ZC3HAV1 semapv:UnspecifiedMatching +OMIM:607312 ZC3HAV1 skos:exactMatch ncbigene:56829 semapv:UnspecifiedMatching +OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:exactMatch MONDO:0020790 semapv:UnspecifiedMatching +OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:1385 semapv:UnspecifiedMatching +OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:CABP2 semapv:UnspecifiedMatching +OMIM:607314 CABP2 skos:exactMatch ncbigene:51475 semapv:UnspecifiedMatching +OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:13714 semapv:UnspecifiedMatching +OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:CABP5 semapv:UnspecifiedMatching +OMIM:607315 CABP5 skos:exactMatch ncbigene:56344 semapv:UnspecifiedMatching +OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch MONDO:0011811 semapv:UnspecifiedMatching +OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch Orphanet:95434 semapv:UnspecifiedMatching +OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch UMLS:C1846492 semapv:UnspecifiedMatching +OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:17171 semapv:UnspecifiedMatching +OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:LOXL4 semapv:UnspecifiedMatching +OMIM:607318 LOXL4 skos:exactMatch ncbigene:84171 semapv:UnspecifiedMatching +OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:20255 semapv:UnspecifiedMatching +OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:SFMBT1 semapv:UnspecifiedMatching +OMIM:607319 SFMBT1 skos:exactMatch ncbigene:51460 semapv:UnspecifiedMatching +OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:18958 semapv:UnspecifiedMatching +OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:RASGRP4 semapv:UnspecifiedMatching +OMIM:607320 RASGRP4 skos:exactMatch ncbigene:115727 semapv:UnspecifiedMatching +OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:14073 semapv:UnspecifiedMatching +OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:ATP1A4 semapv:UnspecifiedMatching +OMIM:607321 ATP1A4 skos:exactMatch ncbigene:480 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch MONDO:0011812 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:959 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C0751084 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching +OMIM:607324 polydactyly, postaxial, iia a3 skos:exactMatch MONDO:0011813 semapv:UnspecifiedMatching +OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:14132 semapv:UnspecifiedMatching +OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:DOCK9 semapv:UnspecifiedMatching +OMIM:607325 DOCK9 skos:exactMatch ncbigene:23348 semapv:UnspecifiedMatching +OMIM:607326 smith-mccort dysplasia 1 skos:exactMatch MONDO:0011814 semapv:UnspecifiedMatching +OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:16746 semapv:UnspecifiedMatching +OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:MBNL2 semapv:UnspecifiedMatching +OMIM:607327 MBNL2 skos:exactMatch ncbigene:10150 semapv:UnspecifiedMatching +OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:24953 semapv:UnspecifiedMatching +OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:HEXIM1 semapv:UnspecifiedMatching +OMIM:607328 HEXIM1 skos:exactMatch ncbigene:10614 semapv:UnspecifiedMatching +OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch MONDO:0011815 semapv:UnspecifiedMatching +OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching +OMIM:607330 lathosterolosis skos:exactMatch MONDO:0011816 semapv:UnspecifiedMatching +OMIM:607330 lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching +OMIM:607330 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching +OMIM:607331 RP9 skos:exactMatch hgnc.symbol:10288 semapv:UnspecifiedMatching +OMIM:607331 RP9 skos:exactMatch hgnc.symbol:RP9 semapv:UnspecifiedMatching +OMIM:607331 RP9 skos:exactMatch ncbigene:6100 semapv:UnspecifiedMatching +OMIM:607332 NREP skos:exactMatch hgnc.symbol:16834 semapv:UnspecifiedMatching +OMIM:607332 NREP skos:exactMatch hgnc.symbol:NREP semapv:UnspecifiedMatching +OMIM:607332 NREP skos:exactMatch ncbigene:9315 semapv:UnspecifiedMatching +OMIM:607333 STRADB skos:exactMatch hgnc.symbol:13205 semapv:UnspecifiedMatching +OMIM:607333 STRADB skos:exactMatch hgnc.symbol:STRADB semapv:UnspecifiedMatching +OMIM:607333 STRADB skos:exactMatch ncbigene:55437 semapv:UnspecifiedMatching +OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:13206 semapv:UnspecifiedMatching +OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:TRAK2 semapv:UnspecifiedMatching +OMIM:607334 TRAK2 skos:exactMatch ncbigene:66008 semapv:UnspecifiedMatching +OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:17107 semapv:UnspecifiedMatching +OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:BEST2 semapv:UnspecifiedMatching +OMIM:607335 BEST2 skos:exactMatch ncbigene:54831 semapv:UnspecifiedMatching +OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:17106 semapv:UnspecifiedMatching +OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:BEST4 semapv:UnspecifiedMatching +OMIM:607336 BEST4 skos:exactMatch ncbigene:266675 semapv:UnspecifiedMatching +OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:17105 semapv:UnspecifiedMatching +OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:BEST3 semapv:UnspecifiedMatching +OMIM:607337 BEST3 skos:exactMatch ncbigene:144453 semapv:UnspecifiedMatching +OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:6555 semapv:UnspecifiedMatching +OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:LEPROTL1 semapv:UnspecifiedMatching +OMIM:607338 LEPROTL1 skos:exactMatch ncbigene:23484 semapv:UnspecifiedMatching +OMIM:607339 coronary heart disease, susceptibility to, 1 skos:exactMatch MONDO:0011817 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C1846414 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693546 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:4507 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:GABBR2 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch ncbigene:9568 semapv:UnspecifiedMatching +OMIM:607341 focal cortical dysplasia, iia 2 skos:exactMatch MONDO:0011818 semapv:UnspecifiedMatching +OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:21744 semapv:UnspecifiedMatching +OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:CPEB1 semapv:UnspecifiedMatching +OMIM:607342 CPEB1 skos:exactMatch ncbigene:64506 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch UMLS:C1423836 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:15924 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:SALL4 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch ncbigene:57167 semapv:UnspecifiedMatching +OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:16811 semapv:UnspecifiedMatching +OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:TUBD1 semapv:UnspecifiedMatching +OMIM:607344 TUBD1 skos:exactMatch ncbigene:51174 semapv:UnspecifiedMatching +OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:20775 semapv:UnspecifiedMatching +OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:TUBE1 semapv:UnspecifiedMatching +OMIM:607345 TUBE1 skos:exactMatch ncbigene:51175 semapv:UnspecifiedMatching +OMIM:607346 spinocerebellar ataxia 19 skos:exactMatch MONDO:0011819 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch UMLS:C1538265 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:20917 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:ALPK1 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch ncbigene:80216 semapv:UnspecifiedMatching +OMIM:607348 HES5 skos:exactMatch UMLS:C1426393 semapv:UnspecifiedMatching +OMIM:607348 HES5 skos:exactMatch hgnc.symbol:19764 semapv:UnspecifiedMatching +OMIM:607348 HES5 skos:exactMatch hgnc.symbol:HES5 semapv:UnspecifiedMatching +OMIM:607348 HES5 skos:exactMatch ncbigene:388585 semapv:UnspecifiedMatching +OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:15447 semapv:UnspecifiedMatching +OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:TLN2 semapv:UnspecifiedMatching +OMIM:607349 TLN2 skos:exactMatch ncbigene:83660 semapv:UnspecifiedMatching +OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:14405 semapv:UnspecifiedMatching +OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:KIF13B semapv:UnspecifiedMatching +OMIM:607350 KIF13B skos:exactMatch ncbigene:23303 semapv:UnspecifiedMatching +OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:18738 semapv:UnspecifiedMatching +OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:RHOBTB1 semapv:UnspecifiedMatching +OMIM:607351 RHOBTB1 skos:exactMatch ncbigene:9886 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C1425762 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:18756 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:RHOBTB2 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch ncbigene:23221 semapv:UnspecifiedMatching +OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:18757 semapv:UnspecifiedMatching +OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:RHOBTB3 semapv:UnspecifiedMatching +OMIM:607353 RHOBTB3 skos:exactMatch ncbigene:22836 semapv:UnspecifiedMatching +OMIM:607354 scoliosis, isolated, susceptibility to, 2 skos:exactMatch MONDO:0011820 semapv:UnspecifiedMatching +OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:18421 semapv:UnspecifiedMatching +OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:AGO3 semapv:UnspecifiedMatching +OMIM:607355 AGO3 skos:exactMatch ncbigene:192669 semapv:UnspecifiedMatching +OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:18424 semapv:UnspecifiedMatching +OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:AGO4 semapv:UnspecifiedMatching +OMIM:607356 AGO4 skos:exactMatch ncbigene:192670 semapv:UnspecifiedMatching +OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:6299 semapv:UnspecifiedMatching +OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:KCNQ5 semapv:UnspecifiedMatching +OMIM:607357 KCNQ5 skos:exactMatch ncbigene:56479 semapv:UnspecifiedMatching +OMIM:607358 AIRE skos:exactMatch hgnc.symbol:360 semapv:UnspecifiedMatching +OMIM:607358 AIRE skos:exactMatch hgnc.symbol:AIRE semapv:UnspecifiedMatching +OMIM:607358 AIRE skos:exactMatch ncbigene:326 semapv:UnspecifiedMatching +OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:23360 semapv:UnspecifiedMatching +OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:CCAR2 semapv:UnspecifiedMatching +OMIM:607359 CCAR2 skos:exactMatch ncbigene:57805 semapv:UnspecifiedMatching +OMIM:607360 LACRT skos:exactMatch hgnc.symbol:16430 semapv:UnspecifiedMatching +OMIM:607360 LACRT skos:exactMatch hgnc.symbol:LACRT semapv:UnspecifiedMatching +OMIM:607360 LACRT skos:exactMatch ncbigene:90070 semapv:UnspecifiedMatching +OMIM:607361 meckel syndrome, iia 3 skos:exactMatch MONDO:0011821 semapv:UnspecifiedMatching +OMIM:607362 RGMA skos:exactMatch hgnc.symbol:30308 semapv:UnspecifiedMatching +OMIM:607362 RGMA skos:exactMatch hgnc.symbol:RGMA semapv:UnspecifiedMatching +OMIM:607362 RGMA skos:exactMatch ncbigene:56963 semapv:UnspecifiedMatching +OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:17255 semapv:UnspecifiedMatching +OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:KNTC1 semapv:UnspecifiedMatching +OMIM:607363 KNTC1 skos:exactMatch ncbigene:9735 semapv:UnspecifiedMatching +OMIM:607364 bartter syndrome, iia 3 skos:exactMatch MONDO:0011822 semapv:UnspecifiedMatching +OMIM:607365 LIPH skos:exactMatch hgnc.symbol:18483 semapv:UnspecifiedMatching +OMIM:607365 LIPH skos:exactMatch hgnc.symbol:LIPH semapv:UnspecifiedMatching +OMIM:607365 LIPH skos:exactMatch ncbigene:200879 semapv:UnspecifiedMatching +OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:6274 semapv:UnspecifiedMatching +OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:KCNK12 semapv:UnspecifiedMatching +OMIM:607366 KCNK12 skos:exactMatch ncbigene:56660 semapv:UnspecifiedMatching +OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:6275 semapv:UnspecifiedMatching +OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:KCNK13 semapv:UnspecifiedMatching +OMIM:607367 KCNK13 skos:exactMatch ncbigene:56659 semapv:UnspecifiedMatching +OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:13814 semapv:UnspecifiedMatching +OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:KCNK15 semapv:UnspecifiedMatching +OMIM:607368 KCNK15 skos:exactMatch ncbigene:60598 semapv:UnspecifiedMatching +OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:14464 semapv:UnspecifiedMatching +OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:KCNK16 semapv:UnspecifiedMatching +OMIM:607369 KCNK16 skos:exactMatch ncbigene:83795 semapv:UnspecifiedMatching +OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:14465 semapv:UnspecifiedMatching +OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:KCNK17 semapv:UnspecifiedMatching +OMIM:607370 KCNK17 skos:exactMatch ncbigene:89822 semapv:UnspecifiedMatching +OMIM:607371 dystonia-deafness syndrome 1 skos:exactMatch MONDO:0011823 semapv:UnspecifiedMatching +OMIM:607372 MED15 skos:exactMatch hgnc.symbol:14248 semapv:UnspecifiedMatching +OMIM:607372 MED15 skos:exactMatch hgnc.symbol:MED15 semapv:UnspecifiedMatching +OMIM:607372 MED15 skos:exactMatch ncbigene:51586 semapv:UnspecifiedMatching +OMIM:607373 autism, susceptibility to, 8 skos:exactMatch MONDO:0011824 semapv:UnspecifiedMatching +OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:9440 semapv:UnspecifiedMatching +OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:THAP12 semapv:UnspecifiedMatching +OMIM:607374 PRKRIR skos:exactMatch ncbigene:5612 semapv:UnspecifiedMatching +OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:24948 semapv:UnspecifiedMatching +OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:DOT1L semapv:UnspecifiedMatching +OMIM:607375 DOT1L skos:exactMatch ncbigene:84444 semapv:UnspecifiedMatching +OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:2712 semapv:UnspecifiedMatching +OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:DCTN2 semapv:UnspecifiedMatching +OMIM:607376 DCTN2 skos:exactMatch ncbigene:10540 semapv:UnspecifiedMatching +OMIM:607377 LENEP skos:exactMatch hgnc.symbol:14429 semapv:UnspecifiedMatching +OMIM:607377 LENEP skos:exactMatch hgnc.symbol:LENEP semapv:UnspecifiedMatching +OMIM:607377 LENEP skos:exactMatch ncbigene:55891 semapv:UnspecifiedMatching +OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:17860 semapv:UnspecifiedMatching +OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:SERBP1 semapv:UnspecifiedMatching +OMIM:607378 SERBP1 skos:exactMatch ncbigene:26135 semapv:UnspecifiedMatching +OMIM:607379 NF2 skos:exactMatch hgnc.symbol:7773 semapv:UnspecifiedMatching +OMIM:607379 NF2 skos:exactMatch hgnc.symbol:NF2 semapv:UnspecifiedMatching +OMIM:607379 NF2 skos:exactMatch ncbigene:4771 semapv:UnspecifiedMatching +OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:17861 semapv:UnspecifiedMatching +OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:TRAF3IP1 semapv:UnspecifiedMatching +OMIM:607380 TRAF3IP1 skos:exactMatch ncbigene:26146 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch UMLS:C1428182 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:23656 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:TIMM50 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch ncbigene:92609 semapv:UnspecifiedMatching +OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:24314 semapv:UnspecifiedMatching +OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:CLIP3 semapv:UnspecifiedMatching +OMIM:607382 CLIP3 skos:exactMatch ncbigene:25999 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch UMLS:C1420739 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:11816 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:TIMM13 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch ncbigene:26517 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch UMLS:C1420742 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:11819 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:TIMM9 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch ncbigene:26520 semapv:UnspecifiedMatching +OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:30871 semapv:UnspecifiedMatching +OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:MGAT4C semapv:UnspecifiedMatching +OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch ncbigene:25834 semapv:UnspecifiedMatching +OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:30391 semapv:UnspecifiedMatching +OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:IFT172 semapv:UnspecifiedMatching +OMIM:607386 IFT172 skos:exactMatch ncbigene:26160 semapv:UnspecifiedMatching +OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:2713 semapv:UnspecifiedMatching +OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:DCTN3 semapv:UnspecifiedMatching +OMIM:607387 DCTN3 skos:exactMatch ncbigene:11258 semapv:UnspecifiedMatching +OMIM:607388 TIMM10B skos:exactMatch UMLS:C1414871 semapv:UnspecifiedMatching +OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:4022 semapv:UnspecifiedMatching +OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:TIMM10B semapv:UnspecifiedMatching +OMIM:607388 TIMM10B skos:exactMatch ncbigene:26515 semapv:UnspecifiedMatching +OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:15831 semapv:UnspecifiedMatching +OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:SSBP2 semapv:UnspecifiedMatching +OMIM:607389 SSBP2 skos:exactMatch ncbigene:23635 semapv:UnspecifiedMatching +OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:15674 semapv:UnspecifiedMatching +OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:SSBP3 semapv:UnspecifiedMatching +OMIM:607390 SSBP3 skos:exactMatch ncbigene:23648 semapv:UnspecifiedMatching +OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:15676 semapv:UnspecifiedMatching +OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:SSBP4 semapv:UnspecifiedMatching +OMIM:607391 SSBP4 skos:exactMatch ncbigene:170463 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch UMLS:C1538117 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:24042 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:WWTR1 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch ncbigene:25937 semapv:UnspecifiedMatching +OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:16783 semapv:UnspecifiedMatching +OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:CDC73 semapv:UnspecifiedMatching +OMIM:607393 CDC73 skos:exactMatch ncbigene:79577 semapv:UnspecifiedMatching +OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:19864 semapv:UnspecifiedMatching +OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:POU2F3 semapv:UnspecifiedMatching +OMIM:607394 POU2F3 skos:exactMatch ncbigene:25833 semapv:UnspecifiedMatching +OMIM:607395 streptococcus, group a, severity of infection by skos:exactMatch MONDO:0011825 semapv:UnspecifiedMatching +OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:11980 semapv:UnspecifiedMatching +OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:TOB2 semapv:UnspecifiedMatching +OMIM:607396 TOB2 skos:exactMatch ncbigene:10766 semapv:UnspecifiedMatching +OMIM:607397 MC2R skos:exactMatch hgnc.symbol:6930 semapv:UnspecifiedMatching +OMIM:607397 MC2R skos:exactMatch hgnc.symbol:MC2R semapv:UnspecifiedMatching +OMIM:607397 MC2R skos:exactMatch ncbigene:4158 semapv:UnspecifiedMatching +OMIM:607398 glucocorticoid deficiency 2 skos:exactMatch MONDO:0011826 semapv:UnspecifiedMatching +OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:13357 semapv:UnspecifiedMatching +OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:MCOLN2 semapv:UnspecifiedMatching +OMIM:607399 MCOLN2 skos:exactMatch ncbigene:255231 semapv:UnspecifiedMatching +OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:13358 semapv:UnspecifiedMatching +OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:MCOLN3 semapv:UnspecifiedMatching +OMIM:607400 MCOLN3 skos:exactMatch ncbigene:55283 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch UMLS:C1425474 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:18364 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:IFNL2 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch ncbigene:282616 semapv:UnspecifiedMatching +OMIM:607402 IFNL3 skos:exactMatch UMLS:C1425475 semapv:UnspecifiedMatching +OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:18365 semapv:UnspecifiedMatching +OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:IFNL3 semapv:UnspecifiedMatching +OMIM:607402 IFNL3 skos:exactMatch ncbigene:282617 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch UMLS:C1425473 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:18363 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:IFNL1 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch ncbigene:282618 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch UMLS:C1425622 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:18584 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:IFNLR1 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch ncbigene:163702 semapv:UnspecifiedMatching +OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:30236 semapv:UnspecifiedMatching +OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:TAAR5 semapv:UnspecifiedMatching +OMIM:607405 TAAR5 skos:exactMatch ncbigene:9038 semapv:UnspecifiedMatching +OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:24854 semapv:UnspecifiedMatching +OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:STBD1 semapv:UnspecifiedMatching +OMIM:607406 STBD1 skos:exactMatch ncbigene:8987 semapv:UnspecifiedMatching +OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:19087 semapv:UnspecifiedMatching +OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:EBF3 semapv:UnspecifiedMatching +OMIM:607407 EBF3 skos:exactMatch ncbigene:253738 semapv:UnspecifiedMatching +OMIM:607408 DAOA skos:exactMatch hgnc.symbol:21191 semapv:UnspecifiedMatching +OMIM:607408 DAOA skos:exactMatch hgnc.symbol:DAOA semapv:UnspecifiedMatching +OMIM:607408 DAOA skos:exactMatch ncbigene:267012 semapv:UnspecifiedMatching +OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:17972 semapv:UnspecifiedMatching +OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:NRN1 semapv:UnspecifiedMatching +OMIM:607409 NRN1 skos:exactMatch ncbigene:51299 semapv:UnspecifiedMatching +OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:19026 semapv:UnspecifiedMatching +OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:DMBX1 semapv:UnspecifiedMatching +OMIM:607410 DMBX1 skos:exactMatch ncbigene:127343 semapv:UnspecifiedMatching +OMIM:607411 patent ductus arteriosus 1 skos:exactMatch MONDO:0024560 semapv:UnspecifiedMatching +OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:15749 semapv:UnspecifiedMatching +OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:BPIFA1 semapv:UnspecifiedMatching +OMIM:607412 BPIFA1 skos:exactMatch ncbigene:51297 semapv:UnspecifiedMatching +OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:13506 semapv:UnspecifiedMatching +OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:FEZF2 semapv:UnspecifiedMatching +OMIM:607414 FEZF2 skos:exactMatch ncbigene:55079 semapv:UnspecifiedMatching +OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:30243 semapv:UnspecifiedMatching +OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:DAOA-AS1 semapv:UnspecifiedMatching +OMIM:607415 DAOAAS skos:exactMatch ncbigene:282706 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch UMLS:C1413393 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:1939 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:CHL1 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch ncbigene:10752 semapv:UnspecifiedMatching +OMIM:607417 intellectual developmental disorder, autosomal recessive 2 skos:exactMatch MONDO:0011828 semapv:UnspecifiedMatching +OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:19095 semapv:UnspecifiedMatching +OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:GCC1 semapv:UnspecifiedMatching +OMIM:607418 GCC1 skos:exactMatch ncbigene:79571 semapv:UnspecifiedMatching +OMIM:607419 GEMIN7 skos:exactMatch UMLS:C1426635 semapv:UnspecifiedMatching +OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:20045 semapv:UnspecifiedMatching +OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:GEMIN7 semapv:UnspecifiedMatching +OMIM:607419 GEMIN7 skos:exactMatch ncbigene:79760 semapv:UnspecifiedMatching +OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:4068 semapv:UnspecifiedMatching +OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:GABARAPL1 semapv:UnspecifiedMatching +OMIM:607420 GABARAPL1 skos:exactMatch ncbigene:23710 semapv:UnspecifiedMatching +OMIM:607421 NME8 skos:exactMatch hgnc.symbol:16473 semapv:UnspecifiedMatching +OMIM:607421 NME8 skos:exactMatch hgnc.symbol:NME8 semapv:UnspecifiedMatching +OMIM:607421 NME8 skos:exactMatch ncbigene:51314 semapv:UnspecifiedMatching +OMIM:607422 GCAT skos:exactMatch hgnc.symbol:4188 semapv:UnspecifiedMatching +OMIM:607422 GCAT skos:exactMatch hgnc.symbol:GCAT semapv:UnspecifiedMatching +OMIM:607422 GCAT skos:exactMatch ncbigene:23464 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch UMLS:C1418752 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch UMLS:C5436962 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:9202 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:POMT1 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch ncbigene:10585 semapv:UnspecifiedMatching +OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:13734 semapv:UnspecifiedMatching +OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:GLYAT semapv:UnspecifiedMatching +OMIM:607424 GLYAT skos:exactMatch ncbigene:10249 semapv:UnspecifiedMatching +OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:19147 semapv:UnspecifiedMatching +OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:GJD3 semapv:UnspecifiedMatching +OMIM:607425 GJD3 skos:exactMatch ncbigene:125111 semapv:UnspecifiedMatching +OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch MONDO:0011829 semapv:UnspecifiedMatching +OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch Orphanet:255249 semapv:UnspecifiedMatching +OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching +OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:30365 semapv:UnspecifiedMatching +OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:ENOSF1 semapv:UnspecifiedMatching +OMIM:607427 ENOSF1 skos:exactMatch ncbigene:55556 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch UMLS:C1423691 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:15734 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:KIRREL1 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch ncbigene:55243 semapv:UnspecifiedMatching +OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:17759 semapv:UnspecifiedMatching +OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:PDSS1 semapv:UnspecifiedMatching +OMIM:607429 PDSS1 skos:exactMatch ncbigene:23590 semapv:UnspecifiedMatching +OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:2683 semapv:UnspecifiedMatching +OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:DAZAP1 semapv:UnspecifiedMatching +OMIM:607430 DAZAP1 skos:exactMatch ncbigene:26528 semapv:UnspecifiedMatching +OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:2684 semapv:UnspecifiedMatching +OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:DAZAP2 semapv:UnspecifiedMatching +OMIM:607431 DAZAP2 skos:exactMatch ncbigene:9802 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch MONDO:0011830 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C0431375 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C1848201 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch UMLS:C1843915 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:9621 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:TWF2 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch ncbigene:11344 semapv:UnspecifiedMatching +OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:4670 semapv:UnspecifiedMatching +OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:GTPBP2 semapv:UnspecifiedMatching +OMIM:607434 GTPBP2 skos:exactMatch ncbigene:54676 semapv:UnspecifiedMatching +OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:3424 semapv:UnspecifiedMatching +OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:ERAL1 semapv:UnspecifiedMatching +OMIM:607435 ERAL1 skos:exactMatch ncbigene:26284 semapv:UnspecifiedMatching +OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:15970 semapv:UnspecifiedMatching +OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:PAPOLB semapv:UnspecifiedMatching +OMIM:607436 PAPOLB skos:exactMatch ncbigene:56903 semapv:UnspecifiedMatching +OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:13310 semapv:UnspecifiedMatching +OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:GPRC5D semapv:UnspecifiedMatching +OMIM:607437 GPRC5D skos:exactMatch ncbigene:55507 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch UMLS:C1426379 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:19743 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:POMT2 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch ncbigene:29954 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch UMLS:C0410174 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch UMLS:C1414558 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch UMLS:C1969024 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch hgnc.symbol:3622 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch hgnc.symbol:FKTN semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch ncbigene:2218 semapv:UnspecifiedMatching +OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:16465 semapv:UnspecifiedMatching +OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:EPSTI1 semapv:UnspecifiedMatching +OMIM:607441 EPSTI1 skos:exactMatch ncbigene:94240 semapv:UnspecifiedMatching +OMIM:607442 EML4 skos:exactMatch hgnc.symbol:1316 semapv:UnspecifiedMatching +OMIM:607442 EML4 skos:exactMatch hgnc.symbol:EML4 semapv:UnspecifiedMatching +OMIM:607442 EML4 skos:exactMatch ncbigene:27436 semapv:UnspecifiedMatching +OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:14417 semapv:UnspecifiedMatching +OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:ELSPBP1 semapv:UnspecifiedMatching +OMIM:607443 ELSPBP1 skos:exactMatch ncbigene:64100 semapv:UnspecifiedMatching +OMIM:607444 SBDS skos:exactMatch hgnc.symbol:19440 semapv:UnspecifiedMatching +OMIM:607444 SBDS skos:exactMatch hgnc.symbol:SBDS semapv:UnspecifiedMatching +OMIM:607444 SBDS skos:exactMatch ncbigene:51119 semapv:UnspecifiedMatching +OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:16687 semapv:UnspecifiedMatching +OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:EIF4ENIF1 semapv:UnspecifiedMatching +OMIM:607445 EIF4ENIF1 skos:exactMatch ncbigene:56478 semapv:UnspecifiedMatching +OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:17425 semapv:UnspecifiedMatching +OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:NPFFR1 semapv:UnspecifiedMatching +OMIM:607448 NPFFR1 skos:exactMatch ncbigene:64106 semapv:UnspecifiedMatching +OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:4525 semapv:UnspecifiedMatching +OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:NPFFR2 semapv:UnspecifiedMatching +OMIM:607449 NPFFR2 skos:exactMatch ncbigene:10886 semapv:UnspecifiedMatching +OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 skos:exactMatch MONDO:0011831 semapv:UnspecifiedMatching +OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:4371 semapv:UnspecifiedMatching +OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:GMEB2 semapv:UnspecifiedMatching +OMIM:607451 GMEB2 skos:exactMatch ncbigene:26205 semapv:UnspecifiedMatching +OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:13291 semapv:UnspecifiedMatching +OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:GABARAPL2 semapv:UnspecifiedMatching +OMIM:607452 GABARAPL2 skos:exactMatch ncbigene:11345 semapv:UnspecifiedMatching +OMIM:607453 deafness, autosomal dominant 44 skos:exactMatch MONDO:0011832 semapv:UnspecifiedMatching +OMIM:607454 spinocerebellar ataxia 21 skos:exactMatch MONDO:0011833 semapv:UnspecifiedMatching +OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:18019 semapv:UnspecifiedMatching +OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:ZFAND3 semapv:UnspecifiedMatching +OMIM:607455 ZFAND3 skos:exactMatch ncbigene:60685 semapv:UnspecifiedMatching +OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:1983 semapv:UnspecifiedMatching +OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:UTP4 semapv:UnspecifiedMatching +OMIM:607456 UTP4 skos:exactMatch ncbigene:84916 semapv:UnspecifiedMatching +OMIM:607458 spinocerebellar ataxia 18 skos:exactMatch MONDO:0011834 semapv:UnspecifiedMatching +OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch MONDO:0011835 semapv:UnspecifiedMatching +OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:17661 semapv:UnspecifiedMatching +OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:PLA1A semapv:UnspecifiedMatching +OMIM:607460 PLA1A skos:exactMatch ncbigene:51365 semapv:UnspecifiedMatching +OMIM:607461 DYM skos:exactMatch hgnc.symbol:21317 semapv:UnspecifiedMatching +OMIM:607461 DYM skos:exactMatch hgnc.symbol:DYM semapv:UnspecifiedMatching +OMIM:607461 DYM skos:exactMatch ncbigene:54808 semapv:UnspecifiedMatching +OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:3033 semapv:UnspecifiedMatching +OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:ATN1 semapv:UnspecifiedMatching +OMIM:607462 ATN1 skos:exactMatch ncbigene:1822 semapv:UnspecifiedMatching +OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:18838 semapv:UnspecifiedMatching +OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:PPP1R13L semapv:UnspecifiedMatching +OMIM:607463 PPP1R13L skos:exactMatch ncbigene:10848 semapv:UnspecifiedMatching +OMIM:607464 thyroid carcinoma, hurthle cell skos:exactMatch MONDO:0011836 semapv:UnspecifiedMatching +OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:1713 semapv:UnspecifiedMatching +OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:CDAN1 semapv:UnspecifiedMatching +OMIM:607465 CDAN1 skos:exactMatch ncbigene:146059 semapv:UnspecifiedMatching +OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:20246 semapv:UnspecifiedMatching +OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:RAB2B semapv:UnspecifiedMatching +OMIM:607466 RAB2B skos:exactMatch ncbigene:84932 semapv:UnspecifiedMatching +OMIM:607467 CLECL1 skos:exactMatch hgnc.symbol:CLECL1P semapv:UnspecifiedMatching +OMIM:607467 CLECL1 skos:exactMatch ncbigene:160365 semapv:UnspecifiedMatching +OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:4539 semapv:UnspecifiedMatching +OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:GPR88 semapv:UnspecifiedMatching +OMIM:607468 GPR88 skos:exactMatch ncbigene:54112 semapv:UnspecifiedMatching +OMIM:607469 NAAA skos:exactMatch hgnc.symbol:736 semapv:UnspecifiedMatching +OMIM:607469 NAAA skos:exactMatch hgnc.symbol:NAAA semapv:UnspecifiedMatching +OMIM:607469 NAAA skos:exactMatch ncbigene:27163 semapv:UnspecifiedMatching +OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:14347 semapv:UnspecifiedMatching +OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:BCAS3 semapv:UnspecifiedMatching +OMIM:607470 BCAS3 skos:exactMatch ncbigene:54828 semapv:UnspecifiedMatching +OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:14367 semapv:UnspecifiedMatching +OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:BCAS4 semapv:UnspecifiedMatching +OMIM:607471 BCAS4 skos:exactMatch ncbigene:55653 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch UMLS:C1421554 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch UMLS:C4310628 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:12843 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:YME1L1 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch ncbigene:10730 semapv:UnspecifiedMatching +OMIM:607473 vitamin k-dependent clotting factors, combined deficiency of, 2 skos:exactMatch MONDO:0011837 semapv:UnspecifiedMatching +OMIM:607474 HGD skos:exactMatch hgnc.symbol:4892 semapv:UnspecifiedMatching +OMIM:607474 HGD skos:exactMatch hgnc.symbol:HGD semapv:UnspecifiedMatching +OMIM:607474 HGD skos:exactMatch ncbigene:3081 semapv:UnspecifiedMatching +OMIM:607475 bothnia retinal dystrophy skos:exactMatch MONDO:0011838 semapv:UnspecifiedMatching +OMIM:607475 bothnia retinal dystrophy skos:exactMatch Orphanet:85128 semapv:UnspecifiedMatching +OMIM:607475 bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 semapv:UnspecifiedMatching +OMIM:607476 newfoundland rod-cone dystrophy skos:exactMatch MONDO:0011839 semapv:UnspecifiedMatching +OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:13698 semapv:UnspecifiedMatching +OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:GTSE1 semapv:UnspecifiedMatching +OMIM:607477 GTSE1 skos:exactMatch ncbigene:51512 semapv:UnspecifiedMatching +OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:20692 semapv:UnspecifiedMatching +OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:TPH2 semapv:UnspecifiedMatching +OMIM:607478 TPH2 skos:exactMatch ncbigene:121278 semapv:UnspecifiedMatching +OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:15718 semapv:UnspecifiedMatching +OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:APCDD1 semapv:UnspecifiedMatching +OMIM:607479 APCDD1 skos:exactMatch ncbigene:147495 semapv:UnspecifiedMatching +OMIM:607481 MMAA skos:exactMatch hgnc.symbol:18871 semapv:UnspecifiedMatching +OMIM:607481 MMAA skos:exactMatch hgnc.symbol:MMAA semapv:UnspecifiedMatching +OMIM:607481 MMAA skos:exactMatch ncbigene:166785 semapv:UnspecifiedMatching +OMIM:607482 cardiomyopathy, dilated, 1m skos:exactMatch MONDO:0011840 semapv:UnspecifiedMatching +OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) skos:exactMatch MONDO:0011841 semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch UMLS:C1335190 semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:15943 semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:PARD6A semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching +OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related skos:exactMatch MONDO:0011842 semapv:UnspecifiedMatching +OMIM:607487 cardiomyopathy, familial hypertrophic, 25 skos:exactMatch MONDO:0011843 semapv:UnspecifiedMatching +OMIM:607488 dystonia 15, myoclonic skos:exactMatch MONDO:0011844 semapv:UnspecifiedMatching +OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:15982 semapv:UnspecifiedMatching +OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:CUL9 semapv:UnspecifiedMatching +OMIM:607489 CUL9 skos:exactMatch ncbigene:23113 semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch UMLS:C1426348 semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch hgnc.symbol:19708 semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch hgnc.symbol:LDHD semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch ncbigene:197257 semapv:UnspecifiedMatching +OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:14988 semapv:UnspecifiedMatching +OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:POFUT1 semapv:UnspecifiedMatching +OMIM:607491 POFUT1 skos:exactMatch ncbigene:23509 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch UMLS:C1538563 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch UMLS:C3554343 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:30032 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:PACS1 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch ncbigene:55690 semapv:UnspecifiedMatching +OMIM:607493 ING3 skos:exactMatch hgnc.symbol:14587 semapv:UnspecifiedMatching +OMIM:607493 ING3 skos:exactMatch hgnc.symbol:ING3 semapv:UnspecifiedMatching +OMIM:607493 ING3 skos:exactMatch ncbigene:54556 semapv:UnspecifiedMatching +OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:6075 semapv:UnspecifiedMatching +OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:INPP4B semapv:UnspecifiedMatching +OMIM:607494 INPP4B skos:exactMatch ncbigene:8821 semapv:UnspecifiedMatching +OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:20203 semapv:UnspecifiedMatching +OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:NOSTRIN semapv:UnspecifiedMatching +OMIM:607496 NOSTRIN skos:exactMatch ncbigene:115677 semapv:UnspecifiedMatching +OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:922 semapv:UnspecifiedMatching +OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:B3GAT2 semapv:UnspecifiedMatching +OMIM:607497 B3GAT2 skos:exactMatch ncbigene:135152 semapv:UnspecifiedMatching +OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch MONDO:0011845 semapv:UnspecifiedMatching +OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch UMLS:C1843782 semapv:UnspecifiedMatching +OMIM:607499 bulimia nervosa, susceptibility to skos:exactMatch MONDO:0011846 semapv:UnspecifiedMatching +OMIM:607501 migraine without aura, susceptibility to, 4 skos:exactMatch MONDO:0011847 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch UMLS:C1426351 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:19711 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:DISP1 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch ncbigene:84976 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch UMLS:C1426352 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:19712 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:DISP2 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch ncbigene:85455 semapv:UnspecifiedMatching +OMIM:607504 headache associated with sexual activity skos:exactMatch MONDO:0011848 semapv:UnspecifiedMatching +OMIM:607505 PASK skos:exactMatch hgnc.symbol:17270 semapv:UnspecifiedMatching +OMIM:607505 PASK skos:exactMatch hgnc.symbol:PASK semapv:UnspecifiedMatching +OMIM:607505 PASK skos:exactMatch ncbigene:23178 semapv:UnspecifiedMatching +OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:14899 semapv:UnspecifiedMatching +OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:ADAMTS14 semapv:UnspecifiedMatching +OMIM:607506 ADAMTS14 skos:exactMatch ncbigene:140766 semapv:UnspecifiedMatching +OMIM:607507 psoriatic arthritis, susceptibility to skos:exactMatch MONDO:0100232 semapv:UnspecifiedMatching +OMIM:607508 migraine with or without aura, susceptibility to, 5 skos:exactMatch MONDO:0011850 semapv:UnspecifiedMatching +OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:16305 semapv:UnspecifiedMatching +OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:ADAMTS15 semapv:UnspecifiedMatching +OMIM:607509 ADAMTS15 skos:exactMatch ncbigene:170689 semapv:UnspecifiedMatching +OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:17108 semapv:UnspecifiedMatching +OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:ADAMTS16 semapv:UnspecifiedMatching +OMIM:607510 ADAMTS16 skos:exactMatch ncbigene:170690 semapv:UnspecifiedMatching +OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:17109 semapv:UnspecifiedMatching +OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:ADAMTS17 semapv:UnspecifiedMatching +OMIM:607511 ADAMTS17 skos:exactMatch ncbigene:170691 semapv:UnspecifiedMatching +OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:17110 semapv:UnspecifiedMatching +OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:ADAMTS18 semapv:UnspecifiedMatching +OMIM:607512 ADAMTS18 skos:exactMatch ncbigene:170692 semapv:UnspecifiedMatching +OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:17111 semapv:UnspecifiedMatching +OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:ADAMTS19 semapv:UnspecifiedMatching +OMIM:607513 ADAMTS19 skos:exactMatch ncbigene:171019 semapv:UnspecifiedMatching +OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:19254 semapv:UnspecifiedMatching +OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:PLAC8 semapv:UnspecifiedMatching +OMIM:607515 PLAC8 skos:exactMatch ncbigene:51316 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch MONDO:0011851 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843766 semapv:UnspecifiedMatching +OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:15503 semapv:UnspecifiedMatching +OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:LILRA4 semapv:UnspecifiedMatching +OMIM:607517 LILRA4 skos:exactMatch ncbigene:23547 semapv:UnspecifiedMatching +OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:29806 semapv:UnspecifiedMatching +OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:LRRC25 semapv:UnspecifiedMatching +OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch ncbigene:126364 semapv:UnspecifiedMatching +OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:271 semapv:UnspecifiedMatching +OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:PARP4 semapv:UnspecifiedMatching +OMIM:607519 PARP4 skos:exactMatch ncbigene:143 semapv:UnspecifiedMatching +OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:20436 semapv:UnspecifiedMatching +OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:ZAR1 semapv:UnspecifiedMatching +OMIM:607520 ZAR1 skos:exactMatch ncbigene:326340 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch UMLS:C1424692 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:17022 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:HPS5 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch ncbigene:11234 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch UMLS:C1425796 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:18817 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:HPS6 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch ncbigene:79803 semapv:UnspecifiedMatching +OMIM:607523 nail disorder, nonsyndromic congenital, 8 skos:exactMatch MONDO:0011852 semapv:UnspecifiedMatching +OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:18064 semapv:UnspecifiedMatching +OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:RNF39 semapv:UnspecifiedMatching +OMIM:607524 RNF39 skos:exactMatch ncbigene:80352 semapv:UnspecifiedMatching +OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:13182 semapv:UnspecifiedMatching +OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:POLR1H semapv:UnspecifiedMatching +OMIM:607525 POLR1H skos:exactMatch ncbigene:30834 semapv:UnspecifiedMatching +OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:10328 semapv:UnspecifiedMatching +OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:RPL27 semapv:UnspecifiedMatching +OMIM:607526 RPL27 skos:exactMatch ncbigene:6155 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch UMLS:C1419599 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:10253 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:PTBP3 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch ncbigene:9991 semapv:UnspecifiedMatching +OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:17985 semapv:UnspecifiedMatching +OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:ROBO4 semapv:UnspecifiedMatching +OMIM:607528 ROBO4 skos:exactMatch ncbigene:54538 semapv:UnspecifiedMatching +OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:10537 semapv:UnspecifiedMatching +OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:SARS1 semapv:UnspecifiedMatching +OMIM:607529 SARS1 skos:exactMatch ncbigene:6301 semapv:UnspecifiedMatching +OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:24957 semapv:UnspecifiedMatching +OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:HOXA11-AS semapv:UnspecifiedMatching +OMIM:607530 HOXA11AS skos:exactMatch ncbigene:221883 semapv:UnspecifiedMatching +OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:6346 semapv:UnspecifiedMatching +OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:KLF12 semapv:UnspecifiedMatching +OMIM:607531 KLF12 skos:exactMatch ncbigene:11278 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch UMLS:C1539032 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:23352 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:PIBF1 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch ncbigene:10464 semapv:UnspecifiedMatching +OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:20604 semapv:UnspecifiedMatching +OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:DIS3 semapv:UnspecifiedMatching +OMIM:607533 DIS3 skos:exactMatch ncbigene:22894 semapv:UnspecifiedMatching +OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:17363 semapv:UnspecifiedMatching +OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:YAF2 semapv:UnspecifiedMatching +OMIM:607534 YAF2 skos:exactMatch ncbigene:10138 semapv:UnspecifiedMatching +OMIM:607535 RYBP skos:exactMatch hgnc.symbol:10480 semapv:UnspecifiedMatching +OMIM:607535 RYBP skos:exactMatch hgnc.symbol:RYBP semapv:UnspecifiedMatching +OMIM:607535 RYBP skos:exactMatch ncbigene:23429 semapv:UnspecifiedMatching +OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:16062 semapv:UnspecifiedMatching +OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:CRTC1 semapv:UnspecifiedMatching +OMIM:607536 CRTC1 skos:exactMatch ncbigene:23373 semapv:UnspecifiedMatching +OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:16259 semapv:UnspecifiedMatching +OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:MAML2 semapv:UnspecifiedMatching +OMIM:607537 MAML2 skos:exactMatch ncbigene:84441 semapv:UnspecifiedMatching +OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:17620 semapv:UnspecifiedMatching +OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:NDEL1 semapv:UnspecifiedMatching +OMIM:607538 NDEL1 skos:exactMatch ncbigene:81565 semapv:UnspecifiedMatching +OMIM:607539 camptosynpolydactyly, complex skos:exactMatch MONDO:0011853 semapv:UnspecifiedMatching +OMIM:607540 secretory diarrhea, myopathy, and deafness skos:exactMatch MONDO:0011854 semapv:UnspecifiedMatching +OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch MONDO:0011855 semapv:UnspecifiedMatching +OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch Orphanet:98963 semapv:UnspecifiedMatching +OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching +OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:6294 semapv:UnspecifiedMatching +OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:KCNQ1 semapv:UnspecifiedMatching +OMIM:607542 KCNQ1 skos:exactMatch ncbigene:3784 semapv:UnspecifiedMatching +OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism skos:exactMatch MONDO:0011856 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch UMLS:C1423677 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:15714 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:LRPPRC semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch ncbigene:10128 semapv:UnspecifiedMatching +OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:10545 semapv:UnspecifiedMatching +OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:MSMO1 semapv:UnspecifiedMatching +OMIM:607545 MSMO1 skos:exactMatch ncbigene:6307 semapv:UnspecifiedMatching +OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:24235 semapv:UnspecifiedMatching +OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:CD200R1 semapv:UnspecifiedMatching +OMIM:607546 CD200R1 skos:exactMatch ncbigene:131450 semapv:UnspecifiedMatching +OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:17094 semapv:UnspecifiedMatching +OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:RPL39L semapv:UnspecifiedMatching +OMIM:607547 RPL39L skos:exactMatch ncbigene:116832 semapv:UnspecifiedMatching +OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:14241 semapv:UnspecifiedMatching +OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:RSPH6A semapv:UnspecifiedMatching +OMIM:607548 RSPH6A skos:exactMatch ncbigene:81492 semapv:UnspecifiedMatching +OMIM:607549 POTED skos:exactMatch hgnc.symbol:23822 semapv:UnspecifiedMatching +OMIM:607549 POTED skos:exactMatch hgnc.symbol:POTED semapv:UnspecifiedMatching +OMIM:607549 POTED skos:exactMatch ncbigene:317754 semapv:UnspecifiedMatching +OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:17027 semapv:UnspecifiedMatching +OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:SLC16A10 semapv:UnspecifiedMatching +OMIM:607550 SLC16A10 skos:exactMatch ncbigene:117247 semapv:UnspecifiedMatching +OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:10676 semapv:UnspecifiedMatching +OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:SDF2L1 semapv:UnspecifiedMatching +OMIM:607551 SDF2L1 skos:exactMatch ncbigene:23753 semapv:UnspecifiedMatching +OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:15577 semapv:UnspecifiedMatching +OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:EPPK1 semapv:UnspecifiedMatching +OMIM:607553 EPPK1 skos:exactMatch ncbigene:83481 semapv:UnspecifiedMatching +OMIM:607554 atrial fibrillation, familial, 3 skos:exactMatch MONDO:0011857 semapv:UnspecifiedMatching +OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:11997 semapv:UnspecifiedMatching +OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:TOR3A semapv:UnspecifiedMatching +OMIM:607555 TOR3A skos:exactMatch ncbigene:64222 semapv:UnspecifiedMatching +OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:20670 semapv:UnspecifiedMatching +OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:TWIST2 semapv:UnspecifiedMatching +OMIM:607556 TWIST2 skos:exactMatch ncbigene:117581 semapv:UnspecifiedMatching +OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:20151 semapv:UnspecifiedMatching +OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:SLC17A8 semapv:UnspecifiedMatching +OMIM:607557 SLC17A8 skos:exactMatch ncbigene:246213 semapv:UnspecifiedMatching +OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:10699 semapv:UnspecifiedMatching +OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:SEC14L2 semapv:UnspecifiedMatching +OMIM:607558 SEC14L2 skos:exactMatch ncbigene:23541 semapv:UnspecifiedMatching +OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:20254 semapv:UnspecifiedMatching +OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:MGRN1 semapv:UnspecifiedMatching +OMIM:607559 MGRN1 skos:exactMatch ncbigene:23295 semapv:UnspecifiedMatching +OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:682 semapv:UnspecifiedMatching +OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:ARHGEF2 semapv:UnspecifiedMatching +OMIM:607560 ARHGEF2 skos:exactMatch ncbigene:9181 semapv:UnspecifiedMatching +OMIM:607562 IL23R skos:exactMatch hgnc.symbol:19100 semapv:UnspecifiedMatching +OMIM:607562 IL23R skos:exactMatch hgnc.symbol:IL23R semapv:UnspecifiedMatching +OMIM:607562 IL23R skos:exactMatch ncbigene:149233 semapv:UnspecifiedMatching +OMIM:607563 SLC17A6 skos:exactMatch hgnc.symbol:16703 semapv:UnspecifiedMatching +OMIM:607563 SLC17A6 skos:exactMatch hgnc.symbol:SLC17A6 semapv:UnspecifiedMatching +OMIM:607563 SLC17A6 skos:exactMatch ncbigene:57084 semapv:UnspecifiedMatching +OMIM:607564 TRIM6 skos:exactMatch hgnc.symbol:16277 semapv:UnspecifiedMatching +OMIM:607564 TRIM6 skos:exactMatch hgnc.symbol:TRIM6 semapv:UnspecifiedMatching +OMIM:607564 TRIM6 skos:exactMatch ncbigene:117854 semapv:UnspecifiedMatching +OMIM:607565 spastic paraplegia, ataxia, and mental retardation skos:exactMatch MONDO:0011858 semapv:UnspecifiedMatching +OMIM:607566 EPM2A skos:exactMatch hgnc.symbol:3413 semapv:UnspecifiedMatching +OMIM:607566 EPM2A skos:exactMatch hgnc.symbol:EPM2A semapv:UnspecifiedMatching +OMIM:607566 EPM2A skos:exactMatch ncbigene:7957 semapv:UnspecifiedMatching +OMIM:607567 OLFM3 skos:exactMatch hgnc.symbol:17990 semapv:UnspecifiedMatching +OMIM:607567 OLFM3 skos:exactMatch hgnc.symbol:OLFM3 semapv:UnspecifiedMatching +OMIM:607567 OLFM3 skos:exactMatch ncbigene:118427 semapv:UnspecifiedMatching +OMIM:607568 MMAB skos:exactMatch hgnc.symbol:19331 semapv:UnspecifiedMatching +OMIM:607568 MMAB skos:exactMatch hgnc.symbol:MMAB semapv:UnspecifiedMatching +OMIM:607568 MMAB skos:exactMatch ncbigene:326625 semapv:UnspecifiedMatching +OMIM:607570 DHX40 skos:exactMatch UMLS:C1425244 semapv:UnspecifiedMatching +OMIM:607570 DHX40 skos:exactMatch hgnc.symbol:18018 semapv:UnspecifiedMatching +OMIM:607570 DHX40 skos:exactMatch hgnc.symbol:DHX40 semapv:UnspecifiedMatching +OMIM:607570 DHX40 skos:exactMatch ncbigene:79665 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch UMLS:C1422630 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch hgnc.symbol:14411 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch hgnc.symbol:SLC25A21 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch ncbigene:89874 semapv:UnspecifiedMatching +OMIM:607572 leprosy, susceptibility to, 2 skos:exactMatch MONDO:0011860 semapv:UnspecifiedMatching +OMIM:607573 MAP1S skos:exactMatch hgnc.symbol:15715 semapv:UnspecifiedMatching +OMIM:607573 MAP1S skos:exactMatch hgnc.symbol:MAP1S semapv:UnspecifiedMatching +OMIM:607573 MAP1S skos:exactMatch ncbigene:55201 semapv:UnspecifiedMatching +OMIM:607574 ARSA skos:exactMatch hgnc.symbol:713 semapv:UnspecifiedMatching +OMIM:607574 ARSA skos:exactMatch hgnc.symbol:ARSA semapv:UnspecifiedMatching +OMIM:607574 ARSA skos:exactMatch ncbigene:410 semapv:UnspecifiedMatching +OMIM:607575 ADA2 skos:exactMatch hgnc.symbol:1839 semapv:UnspecifiedMatching +OMIM:607575 ADA2 skos:exactMatch hgnc.symbol:ADA2 semapv:UnspecifiedMatching +OMIM:607575 ADA2 skos:exactMatch ncbigene:51816 semapv:UnspecifiedMatching +OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:1840 semapv:UnspecifiedMatching +OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:CECR2 semapv:UnspecifiedMatching +OMIM:607576 CECR2 skos:exactMatch ncbigene:27443 semapv:UnspecifiedMatching +OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:14573 semapv:UnspecifiedMatching +OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:ENTPD4 semapv:UnspecifiedMatching +OMIM:607577 ENTPD4 skos:exactMatch ncbigene:9583 semapv:UnspecifiedMatching +OMIM:607578 breath-holding spells skos:exactMatch MONDO:0011861 semapv:UnspecifiedMatching +OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:16261 semapv:UnspecifiedMatching +OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:SLC22A9 semapv:UnspecifiedMatching +OMIM:607579 SLC22A9 skos:exactMatch ncbigene:114571 semapv:UnspecifiedMatching +OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:18057 semapv:UnspecifiedMatching +OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:SLC22A10 semapv:UnspecifiedMatching +OMIM:607580 SLC22A10 skos:exactMatch ncbigene:387775 semapv:UnspecifiedMatching +OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:10972 semapv:UnspecifiedMatching +OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:SLC22A8 semapv:UnspecifiedMatching +OMIM:607581 SLC22A8 skos:exactMatch ncbigene:9376 semapv:UnspecifiedMatching +OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:10970 semapv:UnspecifiedMatching +OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:SLC22A6 semapv:UnspecifiedMatching +OMIM:607582 SLC22A6 skos:exactMatch ncbigene:9356 semapv:UnspecifiedMatching +OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:20208 semapv:UnspecifiedMatching +OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:PEX11G semapv:UnspecifiedMatching +OMIM:607583 PEX11G skos:exactMatch ncbigene:92960 semapv:UnspecifiedMatching +OMIM:607584 spastic paraplegia 24, autosomal recessive skos:exactMatch MONDO:0011862 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C0919524 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C1843542 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C1876175 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017098 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017099 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017100 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017101 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017102 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017103 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4017104 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch UMLS:C4721414 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch hgnc.symbol:795 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch hgnc.symbol:ATM semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch ncbigene:472 semapv:UnspecifiedMatching +OMIM:607586 CARF skos:exactMatch hgnc.symbol:14435 semapv:UnspecifiedMatching +OMIM:607586 CARF skos:exactMatch hgnc.symbol:CARF semapv:UnspecifiedMatching +OMIM:607586 CARF skos:exactMatch ncbigene:79800 semapv:UnspecifiedMatching +OMIM:607587 IL17D skos:exactMatch hgnc.symbol:5984 semapv:UnspecifiedMatching +OMIM:607587 IL17D skos:exactMatch hgnc.symbol:IL17D semapv:UnspecifiedMatching +OMIM:607587 IL17D skos:exactMatch ncbigene:53342 semapv:UnspecifiedMatching +OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:9261 semapv:UnspecifiedMatching +OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:PPIL2 semapv:UnspecifiedMatching +OMIM:607588 PPIL2 skos:exactMatch ncbigene:23759 semapv:UnspecifiedMatching +OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:13900 semapv:UnspecifiedMatching +OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:SGK2 semapv:UnspecifiedMatching +OMIM:607589 SGK2 skos:exactMatch ncbigene:10110 semapv:UnspecifiedMatching +OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:18758 semapv:UnspecifiedMatching +OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:BBS7 semapv:UnspecifiedMatching +OMIM:607590 BBS7 skos:exactMatch ncbigene:55212 semapv:UnspecifiedMatching +OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:10812 semapv:UnspecifiedMatching +OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:SGK3 semapv:UnspecifiedMatching +OMIM:607591 SGK3 skos:exactMatch ncbigene:23678 semapv:UnspecifiedMatching +OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch MONDO:0011863 semapv:UnspecifiedMatching +OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:21163 semapv:UnspecifiedMatching +OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:MDC1 semapv:UnspecifiedMatching +OMIM:607593 MDC1 skos:exactMatch ncbigene:9656 semapv:UnspecifiedMatching +OMIM:607594 immunodeficiency, common variable, 1 skos:exactMatch MONDO:0011864 semapv:UnspecifiedMatching +OMIM:607596 pontocerebellar hypoplasia, iia 1a skos:exactMatch MONDO:0011866 semapv:UnspecifiedMatching +OMIM:607597 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch MONDO:0011867 semapv:UnspecifiedMatching +OMIM:607598 lethal congenital contracture syndrome 2 skos:exactMatch MONDO:0011868 semapv:UnspecifiedMatching +OMIM:607599 RDH10 skos:exactMatch hgnc.symbol:19975 semapv:UnspecifiedMatching +OMIM:607599 RDH10 skos:exactMatch hgnc.symbol:RDH10 semapv:UnspecifiedMatching +OMIM:607599 RDH10 skos:exactMatch ncbigene:157506 semapv:UnspecifiedMatching +OMIM:607600 epidermolysis bullosa simplex superficialis skos:exactMatch MONDO:0011869 semapv:UnspecifiedMatching +OMIM:607601 TICAM1 skos:exactMatch hgnc.symbol:18348 semapv:UnspecifiedMatching +OMIM:607601 TICAM1 skos:exactMatch hgnc.symbol:TICAM1 semapv:UnspecifiedMatching +OMIM:607601 TICAM1 skos:exactMatch ncbigene:148022 semapv:UnspecifiedMatching +OMIM:607602 ichthyosis, annular epidermolytic, 1 skos:exactMatch MONDO:0100303 semapv:UnspecifiedMatching +OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:19697 semapv:UnspecifiedMatching +OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:KCNG4 semapv:UnspecifiedMatching +OMIM:607603 KCNG4 skos:exactMatch ncbigene:93107 semapv:UnspecifiedMatching +OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:19698 semapv:UnspecifiedMatching +OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:KCNV2 semapv:UnspecifiedMatching +OMIM:607604 KCNV2 skos:exactMatch ncbigene:169522 semapv:UnspecifiedMatching +OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:19662 semapv:UnspecifiedMatching +OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:GSTA5 semapv:UnspecifiedMatching +OMIM:607605 GSTA5 skos:exactMatch ncbigene:221357 semapv:UnspecifiedMatching +OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:6447 semapv:UnspecifiedMatching +OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:KRT9 semapv:UnspecifiedMatching +OMIM:607606 KRT9 skos:exactMatch ncbigene:3857 semapv:UnspecifiedMatching +OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:17359 semapv:UnspecifiedMatching +OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:NUP54 semapv:UnspecifiedMatching +OMIM:607607 NUP54 skos:exactMatch ncbigene:53371 semapv:UnspecifiedMatching +OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:11120 semapv:UnspecifiedMatching +OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:SMPD1 semapv:UnspecifiedMatching +OMIM:607608 SMPD1 skos:exactMatch ncbigene:6609 semapv:UnspecifiedMatching +OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:15702 semapv:UnspecifiedMatching +OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:PPIL4 semapv:UnspecifiedMatching +OMIM:607609 PPIL4 skos:exactMatch ncbigene:85313 semapv:UnspecifiedMatching +OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:16494 semapv:UnspecifiedMatching +OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:PLSCR2 semapv:UnspecifiedMatching +OMIM:607610 PLSCR2 skos:exactMatch ncbigene:57047 semapv:UnspecifiedMatching +OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:16495 semapv:UnspecifiedMatching +OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:PLSCR3 semapv:UnspecifiedMatching +OMIM:607611 PLSCR3 skos:exactMatch ncbigene:57048 semapv:UnspecifiedMatching +OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:16497 semapv:UnspecifiedMatching +OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:PLSCR4 semapv:UnspecifiedMatching +OMIM:607612 PLSCR4 skos:exactMatch ncbigene:57088 semapv:UnspecifiedMatching +OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:18016 semapv:UnspecifiedMatching +OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:NUP133 semapv:UnspecifiedMatching +OMIM:607613 NUP133 skos:exactMatch ncbigene:55746 semapv:UnspecifiedMatching +OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:18017 semapv:UnspecifiedMatching +OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:NUP160 semapv:UnspecifiedMatching +OMIM:607614 NUP160 skos:exactMatch ncbigene:23279 semapv:UnspecifiedMatching +OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:20261 semapv:UnspecifiedMatching +OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:NUP58 semapv:UnspecifiedMatching +OMIM:607615 NUP58 skos:exactMatch ncbigene:9818 semapv:UnspecifiedMatching +OMIM:607616 niemann-pick disease, iia B skos:exactMatch MONDO:0011871 semapv:UnspecifiedMatching +OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:29914 semapv:UnspecifiedMatching +OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:NUP107 semapv:UnspecifiedMatching +OMIM:607617 NUP107 skos:exactMatch ncbigene:57122 semapv:UnspecifiedMatching +OMIM:607618 DDX28 skos:exactMatch UMLS:C1424908 semapv:UnspecifiedMatching +OMIM:607618 DDX28 skos:exactMatch hgnc.symbol:17330 semapv:UnspecifiedMatching +OMIM:607618 DDX28 skos:exactMatch hgnc.symbol:DDX28 semapv:UnspecifiedMatching +OMIM:607618 DDX28 skos:exactMatch ncbigene:55794 semapv:UnspecifiedMatching +OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:24125 semapv:UnspecifiedMatching +OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:FRMD3 semapv:UnspecifiedMatching +OMIM:607619 FRMD3 skos:exactMatch ncbigene:257019 semapv:UnspecifiedMatching +OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:2220 semapv:UnspecifiedMatching +OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:COLEC10 semapv:UnspecifiedMatching +OMIM:607620 COLEC10 skos:exactMatch ncbigene:10584 semapv:UnspecifiedMatching +OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:16016 semapv:UnspecifiedMatching +OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:COLEC12 semapv:UnspecifiedMatching +OMIM:607621 COLEC12 skos:exactMatch ncbigene:81035 semapv:UnspecifiedMatching +OMIM:607622 PMVK skos:exactMatch hgnc.symbol:9141 semapv:UnspecifiedMatching +OMIM:607622 PMVK skos:exactMatch hgnc.symbol:PMVK semapv:UnspecifiedMatching +OMIM:607622 PMVK skos:exactMatch ncbigene:10654 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch UMLS:C0268247 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch UMLS:C1417776 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch UMLS:C4017105 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch UMLS:C4017106 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch UMLS:C4017107 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch hgnc.symbol:7897 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch hgnc.symbol:NPC1 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch ncbigene:4864 semapv:UnspecifiedMatching +OMIM:607624 griscelli syndrome, iia 2 skos:exactMatch MONDO:0011872 semapv:UnspecifiedMatching +OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch MONDO:0011873 semapv:UnspecifiedMatching +OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching +OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching +OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis skos:exactMatch MONDO:0011874 semapv:UnspecifiedMatching +OMIM:607627 BPIFA4P skos:exactMatch hgnc.symbol:20469 semapv:UnspecifiedMatching +OMIM:607627 BPIFA4P skos:exactMatch hgnc.symbol:BPIFA4P semapv:UnspecifiedMatching +OMIM:607627 BPIFA4P skos:exactMatch ncbigene:317716 semapv:UnspecifiedMatching +OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch MONDO:0011875 semapv:UnspecifiedMatching +OMIM:607629 APH1A skos:exactMatch UMLS:C1538913 semapv:UnspecifiedMatching +OMIM:607629 APH1A skos:exactMatch hgnc.symbol:29509 semapv:UnspecifiedMatching +OMIM:607629 APH1A skos:exactMatch hgnc.symbol:APH1A semapv:UnspecifiedMatching +OMIM:607629 APH1A skos:exactMatch ncbigene:51107 semapv:UnspecifiedMatching +OMIM:607630 APH1B skos:exactMatch UMLS:C1538914 semapv:UnspecifiedMatching +OMIM:607630 APH1B skos:exactMatch hgnc.symbol:24080 semapv:UnspecifiedMatching +OMIM:607630 APH1B skos:exactMatch hgnc.symbol:APH1B semapv:UnspecifiedMatching +OMIM:607630 APH1B skos:exactMatch ncbigene:83464 semapv:UnspecifiedMatching +OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 skos:exactMatch MONDO:0020772 semapv:UnspecifiedMatching +OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:30100 semapv:UnspecifiedMatching +OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:PSENEN semapv:UnspecifiedMatching +OMIM:607632 PSENEN skos:exactMatch ncbigene:55851 semapv:UnspecifiedMatching +OMIM:607633 XDH skos:exactMatch hgnc.symbol:12805 semapv:UnspecifiedMatching +OMIM:607633 XDH skos:exactMatch hgnc.symbol:XDH semapv:UnspecifiedMatching +OMIM:607633 XDH skos:exactMatch ncbigene:7498 semapv:UnspecifiedMatching +OMIM:607634 osteopetrosis, autosomal dominant 1 skos:exactMatch MONDO:0011877 semapv:UnspecifiedMatching +OMIM:607635 CPA4 skos:exactMatch UMLS:C1423695 semapv:UnspecifiedMatching +OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:15740 semapv:UnspecifiedMatching +OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:CPA4 semapv:UnspecifiedMatching +OMIM:607635 CPA4 skos:exactMatch ncbigene:51200 semapv:UnspecifiedMatching +OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:18511 semapv:UnspecifiedMatching +OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:EMX2OS semapv:UnspecifiedMatching +OMIM:607637 EMX2OS skos:exactMatch ncbigene:196047 semapv:UnspecifiedMatching +OMIM:607638 DCTD skos:exactMatch hgnc.symbol:2710 semapv:UnspecifiedMatching +OMIM:607638 DCTD skos:exactMatch hgnc.symbol:DCTD semapv:UnspecifiedMatching +OMIM:607638 DCTD skos:exactMatch ncbigene:1635 semapv:UnspecifiedMatching +OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:14461 semapv:UnspecifiedMatching +OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:SSC4D semapv:UnspecifiedMatching +OMIM:607639 SSC4D skos:exactMatch ncbigene:136853 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch UMLS:C0752125 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch UMLS:C1538303 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:10560 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:ATXN7 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch ncbigene:6314 semapv:UnspecifiedMatching +OMIM:607641 neuronopathy, distal hereditary motor, autosomal dominant 14 skos:exactMatch MONDO:0011879 semapv:UnspecifiedMatching +OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:9834 semapv:UnspecifiedMatching +OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:RAI1 semapv:UnspecifiedMatching +OMIM:607642 RAI1 skos:exactMatch ncbigene:10743 semapv:UnspecifiedMatching +OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:3960 semapv:UnspecifiedMatching +OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:FSCN2 semapv:UnspecifiedMatching +OMIM:607643 FSCN2 skos:exactMatch ncbigene:25794 semapv:UnspecifiedMatching +OMIM:607644 candidiasis, familial, 3 skos:exactMatch MONDO:0011880 semapv:UnspecifiedMatching +OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:18790 semapv:UnspecifiedMatching +OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:NSG1 semapv:UnspecifiedMatching +OMIM:607645 NSG1 skos:exactMatch ncbigene:27065 semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch UMLS:C1538144 semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:18668 semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:ZBTB7B semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch ncbigene:51043 semapv:UnspecifiedMatching +OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:13635 semapv:UnspecifiedMatching +OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:PLVAP semapv:UnspecifiedMatching +OMIM:607647 PLVAP skos:exactMatch ncbigene:83483 semapv:UnspecifiedMatching +OMIM:607648 STK39 skos:exactMatch hgnc.symbol:17717 semapv:UnspecifiedMatching +OMIM:607648 STK39 skos:exactMatch hgnc.symbol:STK39 semapv:UnspecifiedMatching +OMIM:607648 STK39 skos:exactMatch ncbigene:27347 semapv:UnspecifiedMatching +OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:21652 semapv:UnspecifiedMatching +OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:OSTM1 semapv:UnspecifiedMatching +OMIM:607649 OSTM1 skos:exactMatch ncbigene:28962 semapv:UnspecifiedMatching +OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:16196 semapv:UnspecifiedMatching +OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:DEFB118 semapv:UnspecifiedMatching +OMIM:607650 DEFB118 skos:exactMatch ncbigene:117285 semapv:UnspecifiedMatching +OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:19079 semapv:UnspecifiedMatching +OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:PLEKHB1 semapv:UnspecifiedMatching +OMIM:607651 PLEKHB1 skos:exactMatch ncbigene:58473 semapv:UnspecifiedMatching +OMIM:607652 STK36 skos:exactMatch hgnc.symbol:17209 semapv:UnspecifiedMatching +OMIM:607652 STK36 skos:exactMatch hgnc.symbol:STK36 semapv:UnspecifiedMatching +OMIM:607652 STK36 skos:exactMatch ncbigene:27148 semapv:UnspecifiedMatching +OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:688 semapv:UnspecifiedMatching +OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:RHOJ semapv:UnspecifiedMatching +OMIM:607653 RHOJ skos:exactMatch ncbigene:57381 semapv:UnspecifiedMatching +OMIM:607654 keratosis palmoplantaris striata 3 skos:exactMatch MONDO:0011881 semapv:UnspecifiedMatching +OMIM:607656 curly hair-acral keratoderma-caries syndrome skos:exactMatch MONDO:0011883 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch UMLS:C1413792 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch UMLS:C5436963 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch hgnc.symbol:2501 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch hgnc.symbol:CTH semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch ncbigene:1491 semapv:UnspecifiedMatching +OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch MONDO:0011884 semapv:UnspecifiedMatching +OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:23115 semapv:UnspecifiedMatching +OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:EAF2 semapv:UnspecifiedMatching +OMIM:607659 EAF2 skos:exactMatch ncbigene:55840 semapv:UnspecifiedMatching +OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:15473 semapv:UnspecifiedMatching +OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:TSSK3 semapv:UnspecifiedMatching +OMIM:607660 TSSK3 skos:exactMatch ncbigene:81629 semapv:UnspecifiedMatching +OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:14681 semapv:UnspecifiedMatching +OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:SPATA2 semapv:UnspecifiedMatching +OMIM:607662 SPATA2 skos:exactMatch ncbigene:9825 semapv:UnspecifiedMatching +OMIM:607663 DDX25 skos:exactMatch UMLS:C1425718 semapv:UnspecifiedMatching +OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:18698 semapv:UnspecifiedMatching +OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:DDX25 semapv:UnspecifiedMatching +OMIM:607663 DDX25 skos:exactMatch ncbigene:29118 semapv:UnspecifiedMatching +OMIM:607664 GNS skos:exactMatch hgnc.symbol:4422 semapv:UnspecifiedMatching +OMIM:607664 GNS skos:exactMatch hgnc.symbol:GNS semapv:UnspecifiedMatching +OMIM:607664 GNS skos:exactMatch ncbigene:2799 semapv:UnspecifiedMatching +OMIM:607665 tubulointerstitial nephritis with uveitis skos:exactMatch MONDO:0011885 semapv:UnspecifiedMatching +OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:19705 semapv:UnspecifiedMatching +OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:ANGPTL5 semapv:UnspecifiedMatching +OMIM:607666 ANGPTL5 skos:exactMatch ncbigene:253935 semapv:UnspecifiedMatching +OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:2511 semapv:UnspecifiedMatching +OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:CTNNA3 semapv:UnspecifiedMatching +OMIM:607667 CTNNA3 skos:exactMatch ncbigene:29119 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch UMLS:C1425285 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:18076 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:ARL6IP4 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch ncbigene:51329 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C1824208 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C3810294 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:697 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:ARL6IP1 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch ncbigene:23204 semapv:UnspecifiedMatching +OMIM:607670 STK33 skos:exactMatch hgnc.symbol:14568 semapv:UnspecifiedMatching +OMIM:607670 STK33 skos:exactMatch hgnc.symbol:STK33 semapv:UnspecifiedMatching +OMIM:607670 STK33 skos:exactMatch ncbigene:65975 semapv:UnspecifiedMatching +OMIM:607671 dystonia 13, torsion, autosomal dominant skos:exactMatch MONDO:0011886 semapv:UnspecifiedMatching +OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:17412 semapv:UnspecifiedMatching +OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:CLCF1 semapv:UnspecifiedMatching +OMIM:607672 CLCF1 skos:exactMatch ncbigene:23529 semapv:UnspecifiedMatching +OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:18967 semapv:UnspecifiedMatching +OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:EDEM1 semapv:UnspecifiedMatching +OMIM:607673 EDEM1 skos:exactMatch ncbigene:9695 semapv:UnspecifiedMatching +OMIM:607674 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch MONDO:0011887 semapv:UnspecifiedMatching +OMIM:607675 RCOR skos:exactMatch hgnc.symbol:17441 semapv:UnspecifiedMatching +OMIM:607675 RCOR skos:exactMatch hgnc.symbol:RCOR1 semapv:UnspecifiedMatching +OMIM:607675 RCOR skos:exactMatch ncbigene:23186 semapv:UnspecifiedMatching +OMIM:607676 immunodeficiency 67 skos:exactMatch MONDO:0011888 semapv:UnspecifiedMatching +OMIM:607676 immunodeficiency 67 skos:exactMatch Orphanet:70592 semapv:UnspecifiedMatching +OMIM:607676 immunodeficiency 67 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching +OMIM:607677 charcot-marie-tooth disease, axonal, iia 2i skos:exactMatch MONDO:0011889 semapv:UnspecifiedMatching +OMIM:607678 charcot-marie-tooth disease, demyelinating, iia 1d skos:exactMatch MONDO:0011890 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch UMLS:C1426080 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:19192 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:DOCK4 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch ncbigene:9732 semapv:UnspecifiedMatching +OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:17479 semapv:UnspecifiedMatching +OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:RCHY1 semapv:UnspecifiedMatching +OMIM:607680 ZNF363 skos:exactMatch ncbigene:25898 semapv:UnspecifiedMatching +OMIM:607681 febrile seizures, familial, 8 skos:exactMatch MONDO:0011891 semapv:UnspecifiedMatching +OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch MONDO:0011892 semapv:UnspecifiedMatching +OMIM:607683 deafness, autosomal dominant 52 skos:exactMatch MONDO:0011893 semapv:UnspecifiedMatching +OMIM:607684 charcot-marie-tooth disease, axonal, iia 2e skos:exactMatch MONDO:0011894 semapv:UnspecifiedMatching +OMIM:607685 hypereosinophilic syndrome, idiopathic skos:exactMatch MONDO:0011895 semapv:UnspecifiedMatching +OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:19124 semapv:UnspecifiedMatching +OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:FIP1L1 semapv:UnspecifiedMatching +OMIM:607686 FIP1L1 skos:exactMatch ncbigene:81608 semapv:UnspecifiedMatching +OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch MONDO:0011896 semapv:UnspecifiedMatching +OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:10535 semapv:UnspecifiedMatching +OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:SAR1B semapv:UnspecifiedMatching +OMIM:607690 SAR1B skos:exactMatch ncbigene:51128 semapv:UnspecifiedMatching +OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:10534 semapv:UnspecifiedMatching +OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:SAR1A semapv:UnspecifiedMatching +OMIM:607691 SAR1A skos:exactMatch ncbigene:56681 semapv:UnspecifiedMatching +OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:30972 semapv:UnspecifiedMatching +OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:SECISBP2 semapv:UnspecifiedMatching +OMIM:607693 SECISBP2 skos:exactMatch ncbigene:79048 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch MONDO:0011897 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:137639 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447893 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447896 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:77295 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:88637 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch UMLS:C2676243 semapv:UnspecifiedMatching +OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:24614 semapv:UnspecifiedMatching +OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:EEFSEC semapv:UnspecifiedMatching +OMIM:607695 EEFSEC skos:exactMatch ncbigene:60678 semapv:UnspecifiedMatching +OMIM:607696 USH1G skos:exactMatch hgnc.symbol:16356 semapv:UnspecifiedMatching +OMIM:607696 USH1G skos:exactMatch hgnc.symbol:USH1G semapv:UnspecifiedMatching +OMIM:607696 USH1G skos:exactMatch ncbigene:124590 semapv:UnspecifiedMatching +OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:2135 semapv:UnspecifiedMatching +OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:SBF2 semapv:UnspecifiedMatching +OMIM:607697 SBF2 skos:exactMatch ncbigene:81846 semapv:UnspecifiedMatching +OMIM:607698 LCOR skos:exactMatch hgnc.symbol:29503 semapv:UnspecifiedMatching +OMIM:607698 LCOR skos:exactMatch hgnc.symbol:LCOR semapv:UnspecifiedMatching +OMIM:607698 LCOR skos:exactMatch ncbigene:84458 semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch UMLS:C1419420 semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:10062 semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:RNF20 semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch ncbigene:56254 semapv:UnspecifiedMatching +OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:16867 semapv:UnspecifiedMatching +OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:RNF40 semapv:UnspecifiedMatching +OMIM:607700 RNF40 skos:exactMatch ncbigene:9810 semapv:UnspecifiedMatching +OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:16905 semapv:UnspecifiedMatching +OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:KLHL41 semapv:UnspecifiedMatching +OMIM:607701 KLHL41 skos:exactMatch ncbigene:10324 semapv:UnspecifiedMatching +OMIM:607702 TCIM skos:exactMatch hgnc.symbol:1357 semapv:UnspecifiedMatching +OMIM:607702 TCIM skos:exactMatch hgnc.symbol:TCIM semapv:UnspecifiedMatching +OMIM:607702 TCIM skos:exactMatch ncbigene:56892 semapv:UnspecifiedMatching +OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:30052 semapv:UnspecifiedMatching +OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:NUP210 semapv:UnspecifiedMatching +OMIM:607703 NUP210 skos:exactMatch ncbigene:23225 semapv:UnspecifiedMatching +OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:19309 semapv:UnspecifiedMatching +OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:KANK1 semapv:UnspecifiedMatching +OMIM:607704 KANK1 skos:exactMatch ncbigene:23189 semapv:UnspecifiedMatching +OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:20635 semapv:UnspecifiedMatching +OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:PSME4 semapv:UnspecifiedMatching +OMIM:607705 PSME4 skos:exactMatch ncbigene:23198 semapv:UnspecifiedMatching +OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch MONDO:0011898 semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch UMLS:C1413100 semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch UMLS:C4540484 semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:1461 semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:CAMK2B semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch ncbigene:816 semapv:UnspecifiedMatching +OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:1462 semapv:UnspecifiedMatching +OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:CAMK2D semapv:UnspecifiedMatching +OMIM:607708 CAMK2D skos:exactMatch ncbigene:817 semapv:UnspecifiedMatching +OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:11828 semapv:UnspecifiedMatching +OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:TJP2 semapv:UnspecifiedMatching +OMIM:607709 TJP2 skos:exactMatch ncbigene:9414 semapv:UnspecifiedMatching +OMIM:607710 ENTREP1 skos:exactMatch hgnc.symbol:ENTREP1 semapv:UnspecifiedMatching +OMIM:607710 ENTREP1 skos:exactMatch ncbigene:9413 semapv:UnspecifiedMatching +OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:17217 semapv:UnspecifiedMatching +OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:DIP2A semapv:UnspecifiedMatching +OMIM:607711 DIP2A skos:exactMatch ncbigene:23181 semapv:UnspecifiedMatching +OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:18595 semapv:UnspecifiedMatching +OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:HIC2 semapv:UnspecifiedMatching +OMIM:607712 HIC2 skos:exactMatch ncbigene:23119 semapv:UnspecifiedMatching +OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:29451 semapv:UnspecifiedMatching +OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:FGFBP2 semapv:UnspecifiedMatching +OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch ncbigene:83888 semapv:UnspecifiedMatching +OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:16903 semapv:UnspecifiedMatching +OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:TNIP1 semapv:UnspecifiedMatching +OMIM:607714 TNIP1 skos:exactMatch ncbigene:10318 semapv:UnspecifiedMatching +OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:16826 semapv:UnspecifiedMatching +OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:TSC22D1 semapv:UnspecifiedMatching +OMIM:607715 TSC22D1 skos:exactMatch ncbigene:8848 semapv:UnspecifiedMatching +OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:14962 semapv:UnspecifiedMatching +OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:SYT13 semapv:UnspecifiedMatching +OMIM:607716 SYT13 skos:exactMatch ncbigene:57586 semapv:UnspecifiedMatching +OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:19737 semapv:UnspecifiedMatching +OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:TNS2 semapv:UnspecifiedMatching +OMIM:607717 TNS2 skos:exactMatch ncbigene:23371 semapv:UnspecifiedMatching +OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:18638 semapv:UnspecifiedMatching +OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:SYT6 semapv:UnspecifiedMatching +OMIM:607718 SYT6 skos:exactMatch ncbigene:148281 semapv:UnspecifiedMatching +OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:19264 semapv:UnspecifiedMatching +OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:SYT8 semapv:UnspecifiedMatching +OMIM:607719 SYT8 skos:exactMatch ncbigene:90019 semapv:UnspecifiedMatching +OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:18586 semapv:UnspecifiedMatching +OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:TSNAXIP1 semapv:UnspecifiedMatching +OMIM:607720 TSNAXIP1 skos:exactMatch ncbigene:55815 semapv:UnspecifiedMatching +OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch MONDO:0054637 semapv:UnspecifiedMatching +OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch Orphanet:2701 semapv:UnspecifiedMatching +OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C1843181 semapv:UnspecifiedMatching +OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching +OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:28963 semapv:UnspecifiedMatching +OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:EMC2 semapv:UnspecifiedMatching +OMIM:607722 EMC2 skos:exactMatch ncbigene:9694 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch UMLS:C1425625 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:18587 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:SUN1 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch ncbigene:23353 semapv:UnspecifiedMatching +OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:16471 semapv:UnspecifiedMatching +OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:CAPS2 semapv:UnspecifiedMatching +OMIM:607724 CAPS2 skos:exactMatch ncbigene:84698 semapv:UnspecifiedMatching +OMIM:607725 PARP2 skos:exactMatch UMLS:C1538580 semapv:UnspecifiedMatching +OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:272 semapv:UnspecifiedMatching +OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:PARP2 semapv:UnspecifiedMatching +OMIM:607725 PARP2 skos:exactMatch ncbigene:10038 semapv:UnspecifiedMatching +OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:273 semapv:UnspecifiedMatching +OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:PARP3 semapv:UnspecifiedMatching +OMIM:607726 PARP3 skos:exactMatch ncbigene:10039 semapv:UnspecifiedMatching +OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:30688 semapv:UnspecifiedMatching +OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:CAND1 semapv:UnspecifiedMatching +OMIM:607727 CAND1 skos:exactMatch ncbigene:55832 semapv:UnspecifiedMatching +OMIM:607728 porokeratosis 4, disseminated superficial actinic iia skos:exactMatch MONDO:0011900 semapv:UnspecifiedMatching +OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:24944 semapv:UnspecifiedMatching +OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:DDIT4 semapv:UnspecifiedMatching +OMIM:607729 DDIT4 skos:exactMatch ncbigene:54541 semapv:UnspecifiedMatching +OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:30555 semapv:UnspecifiedMatching +OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:DDIT4L semapv:UnspecifiedMatching +OMIM:607730 DDIT4L skos:exactMatch ncbigene:115265 semapv:UnspecifiedMatching +OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h skos:exactMatch MONDO:0011901 semapv:UnspecifiedMatching +OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:17074 semapv:UnspecifiedMatching +OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:SARM1 semapv:UnspecifiedMatching +OMIM:607732 SARM1 skos:exactMatch ncbigene:23098 semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch UMLS:C1539732 semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:30377 semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:SCRIB semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch ncbigene:23513 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch MONDO:0011902 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:228374 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch UMLS:C1843164 semapv:UnspecifiedMatching +OMIM:607735 PGRMC2 skos:exactMatch UMLS:C1423970 semapv:UnspecifiedMatching +OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:16089 semapv:UnspecifiedMatching +OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:PGRMC2 semapv:UnspecifiedMatching +OMIM:607735 PGRMC2 skos:exactMatch ncbigene:10424 semapv:UnspecifiedMatching +OMIM:607736 charcot-marie-tooth disease, axonal, iia 2j skos:exactMatch MONDO:0011903 semapv:UnspecifiedMatching +OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:19695 semapv:UnspecifiedMatching +OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:FGFBP1 semapv:UnspecifiedMatching +OMIM:607737 FGFBP1 skos:exactMatch ncbigene:9982 semapv:UnspecifiedMatching +OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:6232 semapv:UnspecifiedMatching +OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:KCNB2 semapv:UnspecifiedMatching +OMIM:607738 KCNB2 skos:exactMatch ncbigene:9312 semapv:UnspecifiedMatching +OMIM:607740 USP32 skos:exactMatch hgnc.symbol:19143 semapv:UnspecifiedMatching +OMIM:607740 USP32 skos:exactMatch hgnc.symbol:USP32 semapv:UnspecifiedMatching +OMIM:607740 USP32 skos:exactMatch ncbigene:84669 semapv:UnspecifiedMatching +OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:19031 semapv:UnspecifiedMatching +OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:TBC1D3 semapv:UnspecifiedMatching +OMIM:607741 TBC1D3 skos:exactMatch ncbigene:729873 semapv:UnspecifiedMatching +OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:18527 semapv:UnspecifiedMatching +OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:KRT24 semapv:UnspecifiedMatching +OMIM:607742 KRT24 skos:exactMatch ncbigene:192666 semapv:UnspecifiedMatching +OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:16971 semapv:UnspecifiedMatching +OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:FRS2 semapv:UnspecifiedMatching +OMIM:607743 FRS2 skos:exactMatch ncbigene:10818 semapv:UnspecifiedMatching +OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:16970 semapv:UnspecifiedMatching +OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:FRS3 semapv:UnspecifiedMatching +OMIM:607744 FRS3 skos:exactMatch ncbigene:10817 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch MONDO:0011904 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching +OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:15767 semapv:UnspecifiedMatching +OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:FERMT2 semapv:UnspecifiedMatching +OMIM:607746 FERMT2 skos:exactMatch ncbigene:10979 semapv:UnspecifiedMatching +OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:24686 semapv:UnspecifiedMatching +OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:FBLIM1 semapv:UnspecifiedMatching +OMIM:607747 FBLIM1 skos:exactMatch ncbigene:54751 semapv:UnspecifiedMatching +OMIM:607748 hypercholanemia, familial 1 skos:exactMatch MONDO:0031446 semapv:UnspecifiedMatching +OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:14624 semapv:UnspecifiedMatching +OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:CDCA3 semapv:UnspecifiedMatching +OMIM:607749 CDCA3 skos:exactMatch ncbigene:83461 semapv:UnspecifiedMatching +OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:17353 semapv:UnspecifiedMatching +OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:APOBEC3C semapv:UnspecifiedMatching +OMIM:607750 APOBEC3C skos:exactMatch ncbigene:27350 semapv:UnspecifiedMatching +OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:9584 semapv:UnspecifiedMatching +OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:TAS2R38 semapv:UnspecifiedMatching +OMIM:607751 TAS2R38 skos:exactMatch ncbigene:5726 semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch UMLS:C1425614 semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch UMLS:C4014534 semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch hgnc.symbol:18576 semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch hgnc.symbol:CCNO semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch ncbigene:10309 semapv:UnspecifiedMatching +OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:17148 semapv:UnspecifiedMatching +OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:SMUG1 semapv:UnspecifiedMatching +OMIM:607753 SMUG1 skos:exactMatch ncbigene:23583 semapv:UnspecifiedMatching +OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:7112 semapv:UnspecifiedMatching +OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:MKRN1 semapv:UnspecifiedMatching +OMIM:607754 MKRN1 skos:exactMatch ncbigene:23608 semapv:UnspecifiedMatching +OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:6883 semapv:UnspecifiedMatching +OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:MAPK8IP2 semapv:UnspecifiedMatching +OMIM:607755 MAPK8IP2 skos:exactMatch ncbigene:23542 semapv:UnspecifiedMatching +OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:14235 semapv:UnspecifiedMatching +OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:AASDHPPT semapv:UnspecifiedMatching +OMIM:607756 AASDHPPT skos:exactMatch ncbigene:60496 semapv:UnspecifiedMatching +OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:1307 semapv:UnspecifiedMatching +OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:CBY1 semapv:UnspecifiedMatching +OMIM:607757 CBY1 skos:exactMatch ncbigene:25776 semapv:UnspecifiedMatching +OMIM:607758 CTNNBIP1 skos:exactMatch hgnc.symbol:16913 semapv:UnspecifiedMatching +OMIM:607758 CTNNBIP1 skos:exactMatch hgnc.symbol:CTNNBIP1 semapv:UnspecifiedMatching +OMIM:607758 CTNNBIP1 skos:exactMatch ncbigene:56998 semapv:UnspecifiedMatching +OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:6138 semapv:UnspecifiedMatching +OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:ITGA2B semapv:UnspecifiedMatching +OMIM:607759 ITGA2B skos:exactMatch ncbigene:3674 semapv:UnspecifiedMatching +OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:17008 semapv:UnspecifiedMatching +OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:TOPBP1 semapv:UnspecifiedMatching +OMIM:607760 TOPBP1 skos:exactMatch ncbigene:11073 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch UMLS:C1427986 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:23204 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:KIRREL3 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch ncbigene:84623 semapv:UnspecifiedMatching +OMIM:607762 KIRREL2 skos:exactMatch UMLS:C1425795 semapv:UnspecifiedMatching +OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:18816 semapv:UnspecifiedMatching +OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:KIRREL2 semapv:UnspecifiedMatching +OMIM:607762 KIRREL2 skos:exactMatch ncbigene:84063 semapv:UnspecifiedMatching +OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:16467 semapv:UnspecifiedMatching +OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:ACAP1 semapv:UnspecifiedMatching +OMIM:607763 CENTB1 skos:exactMatch ncbigene:9744 semapv:UnspecifiedMatching +OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:18324 semapv:UnspecifiedMatching +OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:HSD3B7 semapv:UnspecifiedMatching +OMIM:607764 HSD3B7 skos:exactMatch ncbigene:80270 semapv:UnspecifiedMatching +OMIM:607765 bile acid synthesis defect, congenital, 1 skos:exactMatch MONDO:0011906 semapv:UnspecifiedMatching +OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:16469 semapv:UnspecifiedMatching +OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:ACAP2 semapv:UnspecifiedMatching +OMIM:607766 CENTB2 skos:exactMatch ncbigene:23527 semapv:UnspecifiedMatching +OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:20746 semapv:UnspecifiedMatching +OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:SESN2 semapv:UnspecifiedMatching +OMIM:607767 SESN2 skos:exactMatch ncbigene:83667 semapv:UnspecifiedMatching +OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:23060 semapv:UnspecifiedMatching +OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:SESN3 semapv:UnspecifiedMatching +OMIM:607768 SESN3 skos:exactMatch ncbigene:143686 semapv:UnspecifiedMatching +OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:14339 semapv:UnspecifiedMatching +OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:PLEKHA4 semapv:UnspecifiedMatching +OMIM:607769 PLEKHA4 skos:exactMatch ncbigene:57664 semapv:UnspecifiedMatching +OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:30036 semapv:UnspecifiedMatching +OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:PLEKHA5 semapv:UnspecifiedMatching +OMIM:607770 PLEKHA5 skos:exactMatch ncbigene:54477 semapv:UnspecifiedMatching +OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:17053 semapv:UnspecifiedMatching +OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:PLEKHA6 semapv:UnspecifiedMatching +OMIM:607771 PLEKHA6 skos:exactMatch ncbigene:22874 semapv:UnspecifiedMatching +OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:14335 semapv:UnspecifiedMatching +OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:PLEKHA1 semapv:UnspecifiedMatching +OMIM:607772 PLEKHA1 skos:exactMatch ncbigene:59338 semapv:UnspecifiedMatching +OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:14336 semapv:UnspecifiedMatching +OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:PLEKHA2 semapv:UnspecifiedMatching +OMIM:607773 PLEKHA2 skos:exactMatch ncbigene:59339 semapv:UnspecifiedMatching +OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:14338 semapv:UnspecifiedMatching +OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:PLEKHA3 semapv:UnspecifiedMatching +OMIM:607774 PLEKHA3 skos:exactMatch ncbigene:65977 semapv:UnspecifiedMatching +OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:6244 semapv:UnspecifiedMatching +OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:KCNE4 semapv:UnspecifiedMatching +OMIM:607775 KCNE4 skos:exactMatch ncbigene:23704 semapv:UnspecifiedMatching +OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:19353 semapv:UnspecifiedMatching +OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:SIN3A semapv:UnspecifiedMatching +OMIM:607776 SIN3A skos:exactMatch ncbigene:25942 semapv:UnspecifiedMatching +OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:19354 semapv:UnspecifiedMatching +OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:SIN3B semapv:UnspecifiedMatching +OMIM:607777 SIN3B skos:exactMatch ncbigene:23309 semapv:UnspecifiedMatching +OMIM:607778 acrocapitofemoral dysplasia skos:exactMatch MONDO:0011907 semapv:UnspecifiedMatching +OMIM:607779 PAQR7 skos:exactMatch hgnc.symbol:23146 semapv:UnspecifiedMatching +OMIM:607779 PAQR7 skos:exactMatch hgnc.symbol:PAQR7 semapv:UnspecifiedMatching +OMIM:607779 PAQR7 skos:exactMatch ncbigene:164091 semapv:UnspecifiedMatching +OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:15708 semapv:UnspecifiedMatching +OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:PAQR8 semapv:UnspecifiedMatching +OMIM:607780 PAQR8 skos:exactMatch ncbigene:85315 semapv:UnspecifiedMatching +OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:29645 semapv:UnspecifiedMatching +OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:PAQR5 semapv:UnspecifiedMatching +OMIM:607781 PAQR5 skos:exactMatch ncbigene:54852 semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch UMLS:C1416935 semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:6723 semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:LUC7L semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch ncbigene:55692 semapv:UnspecifiedMatching +OMIM:607783 MESD skos:exactMatch hgnc.symbol:13520 semapv:UnspecifiedMatching +OMIM:607783 MESD skos:exactMatch hgnc.symbol:MESD semapv:UnspecifiedMatching +OMIM:607783 MESD skos:exactMatch ncbigene:23184 semapv:UnspecifiedMatching +OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:13884 semapv:UnspecifiedMatching +OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:ABCG4 semapv:UnspecifiedMatching +OMIM:607784 ABCG4 skos:exactMatch ncbigene:64137 semapv:UnspecifiedMatching +OMIM:607785 juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch UMLS:C1426592 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch UMLS:C3276239 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:20001 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:PCSK9 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch ncbigene:255738 semapv:UnspecifiedMatching +OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:28899 semapv:UnspecifiedMatching +OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:GPR180 semapv:UnspecifiedMatching +OMIM:607787 GPR180 skos:exactMatch ncbigene:160897 semapv:UnspecifiedMatching +OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:18451 semapv:UnspecifiedMatching +OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:MCFD2 semapv:UnspecifiedMatching +OMIM:607788 MCFD2 skos:exactMatch ncbigene:90411 semapv:UnspecifiedMatching +OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:8921 semapv:UnspecifiedMatching +OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:PHF3 semapv:UnspecifiedMatching +OMIM:607789 PHF3 skos:exactMatch ncbigene:23469 semapv:UnspecifiedMatching +OMIM:607790 TET1 skos:exactMatch UMLS:C1428863 semapv:UnspecifiedMatching +OMIM:607790 TET1 skos:exactMatch hgnc.symbol:29484 semapv:UnspecifiedMatching +OMIM:607790 TET1 skos:exactMatch hgnc.symbol:TET1 semapv:UnspecifiedMatching +OMIM:607790 TET1 skos:exactMatch ncbigene:80312 semapv:UnspecifiedMatching +OMIM:607791 charcot-marie-tooth disease, dominant intermediate d skos:exactMatch MONDO:0011909 semapv:UnspecifiedMatching +OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:20253 semapv:UnspecifiedMatching +OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:GCSAM semapv:UnspecifiedMatching +OMIM:607792 GCSAM skos:exactMatch ncbigene:257144 semapv:UnspecifiedMatching +OMIM:607793 PPAN skos:exactMatch hgnc.symbol:9227 semapv:UnspecifiedMatching +OMIM:607793 PPAN skos:exactMatch hgnc.symbol:PPAN semapv:UnspecifiedMatching +OMIM:607793 PPAN skos:exactMatch ncbigene:56342 semapv:UnspecifiedMatching +OMIM:607794 MESTIT1 skos:exactMatch UMLS:C1425221 semapv:UnspecifiedMatching +OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:17991 semapv:UnspecifiedMatching +OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:MESTIT1 semapv:UnspecifiedMatching +OMIM:607794 MESTIT1 skos:exactMatch ncbigene:317751 semapv:UnspecifiedMatching +OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:17349 semapv:UnspecifiedMatching +OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:PRPF4 semapv:UnspecifiedMatching +OMIM:607795 PRPF4 skos:exactMatch ncbigene:9128 semapv:UnspecifiedMatching +OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:17024 semapv:UnspecifiedMatching +OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:PHF11 semapv:UnspecifiedMatching +OMIM:607796 PHF11 skos:exactMatch ncbigene:51131 semapv:UnspecifiedMatching +OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:30857 semapv:UnspecifiedMatching +OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:SNRNP40 semapv:UnspecifiedMatching +OMIM:607797 SNRNP40 skos:exactMatch ncbigene:9410 semapv:UnspecifiedMatching +OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:18056 semapv:UnspecifiedMatching +OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:TAF1L semapv:UnspecifiedMatching +OMIM:607798 TAF1L skos:exactMatch ncbigene:138474 semapv:UnspecifiedMatching +OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:18412 semapv:UnspecifiedMatching +OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:ZDHHC17 semapv:UnspecifiedMatching +OMIM:607799 ZDHHC17 skos:exactMatch ncbigene:23390 semapv:UnspecifiedMatching +OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:14637 semapv:UnspecifiedMatching +OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:ABCA12 semapv:UnspecifiedMatching +OMIM:607800 ABCA12 skos:exactMatch ncbigene:26154 semapv:UnspecifiedMatching +OMIM:607801 skos:exactMatch MONDO:0011910 semapv:UnspecifiedMatching +OMIM:607802 CNNM1 skos:exactMatch hgnc.symbol:102 semapv:UnspecifiedMatching +OMIM:607802 CNNM1 skos:exactMatch hgnc.symbol:CNNM1 semapv:UnspecifiedMatching +OMIM:607802 CNNM1 skos:exactMatch ncbigene:26507 semapv:UnspecifiedMatching +OMIM:607803 CNNM2 skos:exactMatch hgnc.symbol:103 semapv:UnspecifiedMatching +OMIM:607803 CNNM2 skos:exactMatch hgnc.symbol:CNNM2 semapv:UnspecifiedMatching +OMIM:607803 CNNM2 skos:exactMatch ncbigene:54805 semapv:UnspecifiedMatching +OMIM:607804 CNNM3 skos:exactMatch hgnc.symbol:104 semapv:UnspecifiedMatching +OMIM:607804 CNNM3 skos:exactMatch hgnc.symbol:CNNM3 semapv:UnspecifiedMatching +OMIM:607804 CNNM3 skos:exactMatch ncbigene:26505 semapv:UnspecifiedMatching +OMIM:607805 CNNM4 skos:exactMatch hgnc.symbol:105 semapv:UnspecifiedMatching +OMIM:607805 CNNM4 skos:exactMatch hgnc.symbol:CNNM4 semapv:UnspecifiedMatching +OMIM:607805 CNNM4 skos:exactMatch ncbigene:26504 semapv:UnspecifiedMatching +OMIM:607806 OTOP1 skos:exactMatch hgnc.symbol:19656 semapv:UnspecifiedMatching +OMIM:607806 OTOP1 skos:exactMatch hgnc.symbol:OTOP1 semapv:UnspecifiedMatching +OMIM:607806 OTOP1 skos:exactMatch ncbigene:133060 semapv:UnspecifiedMatching +OMIM:607807 ABCA13 skos:exactMatch hgnc.symbol:14638 semapv:UnspecifiedMatching +OMIM:607807 ABCA13 skos:exactMatch hgnc.symbol:ABCA13 semapv:UnspecifiedMatching +OMIM:607807 ABCA13 skos:exactMatch ncbigene:154664 semapv:UnspecifiedMatching +OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:7837 semapv:UnspecifiedMatching +OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:NKX2-4 semapv:UnspecifiedMatching +OMIM:607808 NKX2-4 skos:exactMatch ncbigene:644524 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch UMLS:C1412111 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch UMLS:C1536500 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:93 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:ACAT1 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch ncbigene:38 semapv:UnspecifiedMatching +OMIM:607810 RSAD2 skos:exactMatch UMLS:C1539703 semapv:UnspecifiedMatching +OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:30908 semapv:UnspecifiedMatching +OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:RSAD2 semapv:UnspecifiedMatching +OMIM:607810 RSAD2 skos:exactMatch ncbigene:91543 semapv:UnspecifiedMatching +OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:20882 semapv:UnspecifiedMatching +OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:PAK1IP1 semapv:UnspecifiedMatching +OMIM:607811 PAK1IP1 skos:exactMatch ncbigene:55003 semapv:UnspecifiedMatching +OMIM:607812 craniolenticulosutural dysplasia skos:exactMatch MONDO:0011911 semapv:UnspecifiedMatching +OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:23496 semapv:UnspecifiedMatching +OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:PLPPR4 semapv:UnspecifiedMatching +OMIM:607813 PLPPR4 skos:exactMatch ncbigene:9890 semapv:UnspecifiedMatching +OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:30304 semapv:UnspecifiedMatching +OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:RGS9BP semapv:UnspecifiedMatching +OMIM:607814 RGS9BP skos:exactMatch ncbigene:388531 semapv:UnspecifiedMatching +OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:24600 semapv:UnspecifiedMatching +OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:ANKS1B semapv:UnspecifiedMatching +OMIM:607815 ANKS1B skos:exactMatch ncbigene:56899 semapv:UnspecifiedMatching +OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:21156 semapv:UnspecifiedMatching +OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:PCGF6 semapv:UnspecifiedMatching +OMIM:607816 PCGF6 skos:exactMatch ncbigene:84108 semapv:UnspecifiedMatching +OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:2183 semapv:UnspecifiedMatching +OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:VPS13B semapv:UnspecifiedMatching +OMIM:607817 VPS13B skos:exactMatch ncbigene:157680 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch UMLS:C1425371 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:18194 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:ZNF365 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch ncbigene:22891 semapv:UnspecifiedMatching +OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:19089 semapv:UnspecifiedMatching +OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:SLC30A5 semapv:UnspecifiedMatching +OMIM:607819 SLC30A5 skos:exactMatch ncbigene:64924 semapv:UnspecifiedMatching +OMIM:607820 HOOK1 skos:exactMatch UMLS:C1426505 semapv:UnspecifiedMatching +OMIM:607820 HOOK1 skos:exactMatch hgnc.symbol:19884 semapv:UnspecifiedMatching +OMIM:607820 HOOK1 skos:exactMatch hgnc.symbol:HOOK1 semapv:UnspecifiedMatching +OMIM:607820 HOOK1 skos:exactMatch ncbigene:51361 semapv:UnspecifiedMatching +OMIM:607821 deafness, autosomal recessive 37 skos:exactMatch MONDO:0011912 semapv:UnspecifiedMatching +OMIM:607822 alzheimer disease 3 skos:exactMatch MONDO:0011913 semapv:UnspecifiedMatching +OMIM:607823 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch MONDO:0011914 semapv:UnspecifiedMatching +OMIM:607824 HOOK2 skos:exactMatch UMLS:C1426506 semapv:UnspecifiedMatching +OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:19885 semapv:UnspecifiedMatching +OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:HOOK2 semapv:UnspecifiedMatching +OMIM:607824 HOOK2 skos:exactMatch ncbigene:29911 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch UMLS:C1428139 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:23576 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:HOOK3 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch ncbigene:84376 semapv:UnspecifiedMatching +OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:344 semapv:UnspecifiedMatching +OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:AHCYL1 semapv:UnspecifiedMatching +OMIM:607826 AHCYL1 skos:exactMatch ncbigene:10768 semapv:UnspecifiedMatching +OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:19657 semapv:UnspecifiedMatching +OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:OTOP2 semapv:UnspecifiedMatching +OMIM:607827 OTOP2 skos:exactMatch ncbigene:92736 semapv:UnspecifiedMatching +OMIM:607828 OTOP3 skos:exactMatch hgnc.symbol:19658 semapv:UnspecifiedMatching +OMIM:607828 OTOP3 skos:exactMatch hgnc.symbol:OTOP3 semapv:UnspecifiedMatching +OMIM:607828 OTOP3 skos:exactMatch ncbigene:347741 semapv:UnspecifiedMatching +OMIM:607829 mitral valve prolapse 2 skos:exactMatch MONDO:0011915 semapv:UnspecifiedMatching +OMIM:607830 FRAS1 skos:exactMatch hgnc.symbol:19185 semapv:UnspecifiedMatching +OMIM:607830 FRAS1 skos:exactMatch hgnc.symbol:FRAS1 semapv:UnspecifiedMatching +OMIM:607830 FRAS1 skos:exactMatch ncbigene:80144 semapv:UnspecifiedMatching +OMIM:607831 charcot-marie-tooth disease, axonal, iia 2k skos:exactMatch MONDO:0011916 semapv:UnspecifiedMatching +OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch MONDO:0011917 semapv:UnspecifiedMatching +OMIM:607833 TAC4 skos:exactMatch hgnc.symbol:16641 semapv:UnspecifiedMatching +OMIM:607833 TAC4 skos:exactMatch hgnc.symbol:TAC4 semapv:UnspecifiedMatching +OMIM:607833 TAC4 skos:exactMatch ncbigene:255061 semapv:UnspecifiedMatching +OMIM:607834 anxiety skos:exactMatch MONDO:0011918 semapv:UnspecifiedMatching +OMIM:607835 SF3B6 skos:exactMatch hgnc.symbol:30096 semapv:UnspecifiedMatching +OMIM:607835 SF3B6 skos:exactMatch hgnc.symbol:SF3B6 semapv:UnspecifiedMatching +OMIM:607835 SF3B6 skos:exactMatch ncbigene:51639 semapv:UnspecifiedMatching +OMIM:607836 autoimmune disease, susceptibility to, 1 skos:exactMatch MONDO:0011919 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch UMLS:C1413500 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:2079 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:CLN8 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch ncbigene:2055 semapv:UnspecifiedMatching +OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:23026 semapv:UnspecifiedMatching +OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:GNPTG semapv:UnspecifiedMatching +OMIM:607838 GNPTG skos:exactMatch ncbigene:84572 semapv:UnspecifiedMatching +OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:4180 semapv:UnspecifiedMatching +OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:GBE1 semapv:UnspecifiedMatching +OMIM:607839 GBE1 skos:exactMatch ncbigene:2632 semapv:UnspecifiedMatching +OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:29670 semapv:UnspecifiedMatching +OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:GNPTAB semapv:UnspecifiedMatching +OMIM:607840 GNPTAB skos:exactMatch ncbigene:79158 semapv:UnspecifiedMatching +OMIM:607841 deafness, autosomal dominant 48 skos:exactMatch MONDO:0011920 semapv:UnspecifiedMatching +OMIM:607842 aural atresia, congenital skos:exactMatch MONDO:0011921 semapv:UnspecifiedMatching +OMIM:607842 aural atresia, congenital skos:exactMatch Orphanet:141074 semapv:UnspecifiedMatching +OMIM:607842 aural atresia, congenital skos:exactMatch UMLS:C1842937 semapv:UnspecifiedMatching +OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:20313 semapv:UnspecifiedMatching +OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:PKHD1L1 semapv:UnspecifiedMatching +OMIM:607843 PKHD1L1 skos:exactMatch ncbigene:93035 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C0029455 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C1537562 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149399 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149695 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch UMLS:C5394581 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:28887 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:LEMD3 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch ncbigene:23592 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch UMLS:C1425032 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:17675 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:XPO5 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch ncbigene:57510 semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:18272 semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:METTL2B semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch ncbigene:55798 semapv:UnspecifiedMatching +OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch MONDO:0011922 semapv:UnspecifiedMatching +OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch Orphanet:2688 semapv:UnspecifiedMatching +OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching +OMIM:607848 RILP skos:exactMatch hgnc.symbol:30266 semapv:UnspecifiedMatching +OMIM:607848 RILP skos:exactMatch hgnc.symbol:RILP semapv:UnspecifiedMatching +OMIM:607848 RILP skos:exactMatch ncbigene:83547 semapv:UnspecifiedMatching +OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:17964 semapv:UnspecifiedMatching +OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:RDH11 semapv:UnspecifiedMatching +OMIM:607849 RDH11 skos:exactMatch ncbigene:51109 semapv:UnspecifiedMatching +OMIM:607850 osteoarthritis susceptibility 3 skos:exactMatch MONDO:0011923 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch UMLS:C1424706 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:17045 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:NKD1 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch ncbigene:85407 semapv:UnspecifiedMatching +OMIM:607852 NKD2 skos:exactMatch UMLS:C1424707 semapv:UnspecifiedMatching +OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:17046 semapv:UnspecifiedMatching +OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:NKD2 semapv:UnspecifiedMatching +OMIM:607852 NKD2 skos:exactMatch ncbigene:85409 semapv:UnspecifiedMatching +OMIM:607853 panic disorder 2 skos:exactMatch MONDO:0011924 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C1826421 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:12703 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:BEST1 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch ncbigene:7439 semapv:UnspecifiedMatching +OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch MONDO:0011925 semapv:UnspecifiedMatching +OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch Orphanet:258 semapv:UnspecifiedMatching +OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch UMLS:C1263858 semapv:UnspecifiedMatching +OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:25931 semapv:UnspecifiedMatching +OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:CGNL1 semapv:UnspecifiedMatching +OMIM:607856 CGNL1 skos:exactMatch ncbigene:84952 semapv:UnspecifiedMatching +OMIM:607857 psoriasis 9, susceptibility to skos:exactMatch MONDO:0011926 semapv:UnspecifiedMatching +OMIM:607858 PARL skos:exactMatch hgnc.symbol:18253 semapv:UnspecifiedMatching +OMIM:607858 PARL skos:exactMatch hgnc.symbol:PARL semapv:UnspecifiedMatching +OMIM:607858 PARL skos:exactMatch ncbigene:55486 semapv:UnspecifiedMatching +OMIM:607859 angioma, tufted skos:exactMatch MONDO:0011927 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1538138 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:30935 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:YY1AP1 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch ncbigene:55249 semapv:UnspecifiedMatching +OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:17748 semapv:UnspecifiedMatching +OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:DACT1 semapv:UnspecifiedMatching +OMIM:607861 DACT1 skos:exactMatch ncbigene:51339 semapv:UnspecifiedMatching +OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:19127 semapv:UnspecifiedMatching +OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:DIRAS1 semapv:UnspecifiedMatching +OMIM:607862 DIRAS1 skos:exactMatch ncbigene:148252 semapv:UnspecifiedMatching +OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:19323 semapv:UnspecifiedMatching +OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:DIRAS2 semapv:UnspecifiedMatching +OMIM:607863 DIRAS2 skos:exactMatch ncbigene:54769 semapv:UnspecifiedMatching +OMIM:607864 caudal duplication anomaly skos:exactMatch MONDO:0011928 semapv:UnspecifiedMatching +OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:20263 semapv:UnspecifiedMatching +OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:SETDB2 semapv:UnspecifiedMatching +OMIM:607865 SETDB2 skos:exactMatch ncbigene:83852 semapv:UnspecifiedMatching +OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:14297 semapv:UnspecifiedMatching +OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:SPRYD7 semapv:UnspecifiedMatching +OMIM:607866 SPRYD7 skos:exactMatch ncbigene:57213 semapv:UnspecifiedMatching +OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:18243 semapv:UnspecifiedMatching +OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:RCBTB1 semapv:UnspecifiedMatching +OMIM:607867 RCBTB1 skos:exactMatch ncbigene:55213 semapv:UnspecifiedMatching +OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:16281 semapv:UnspecifiedMatching +OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:TRIM11 semapv:UnspecifiedMatching +OMIM:607868 TRIM11 skos:exactMatch ncbigene:81559 semapv:UnspecifiedMatching +OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:12567 semapv:UnspecifiedMatching +OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:UNC5A semapv:UnspecifiedMatching +OMIM:607869 UNC5A skos:exactMatch ncbigene:90249 semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch UMLS:C1421358 semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:12568 semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:UNC5B semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch ncbigene:219699 semapv:UnspecifiedMatching +OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:13590 semapv:UnspecifiedMatching +OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:FBXO11 semapv:UnspecifiedMatching +OMIM:607871 FBXO11 skos:exactMatch ncbigene:80204 semapv:UnspecifiedMatching +OMIM:607872 chromosome 1p36 deletion syndrome, distal skos:exactMatch MONDO:0011929 semapv:UnspecifiedMatching +OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:16820 semapv:UnspecifiedMatching +OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:SCARF1 semapv:UnspecifiedMatching +OMIM:607873 SCARF1 skos:exactMatch ncbigene:8578 semapv:UnspecifiedMatching +OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:16052 semapv:UnspecifiedMatching +OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:ZNF444 semapv:UnspecifiedMatching +OMIM:607874 ZNF444 skos:exactMatch ncbigene:55311 semapv:UnspecifiedMatching +OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:33882 semapv:UnspecifiedMatching +OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:INPP5K semapv:UnspecifiedMatching +OMIM:607875 INPP5K skos:exactMatch ncbigene:51763 semapv:UnspecifiedMatching +OMIM:607876 epilepsy, familial adult myoclonic, 2 skos:exactMatch MONDO:0011930 semapv:UnspecifiedMatching +OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:22644 semapv:UnspecifiedMatching +OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:OTOS semapv:UnspecifiedMatching +OMIM:607877 otospiralin skos:exactMatch ncbigene:150677 semapv:UnspecifiedMatching +OMIM:607878 NNT skos:exactMatch hgnc.symbol:7863 semapv:UnspecifiedMatching +OMIM:607878 NNT skos:exactMatch hgnc.symbol:NNT semapv:UnspecifiedMatching +OMIM:607878 NNT skos:exactMatch ncbigene:23530 semapv:UnspecifiedMatching +OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:30380 semapv:UnspecifiedMatching +OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:EXOC1 semapv:UnspecifiedMatching +OMIM:607879 EXOC1 skos:exactMatch ncbigene:55763 semapv:UnspecifiedMatching +OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:17085 semapv:UnspecifiedMatching +OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:EXOC6B semapv:UnspecifiedMatching +OMIM:607880 EXOC6B skos:exactMatch ncbigene:23233 semapv:UnspecifiedMatching +OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:30430 semapv:UnspecifiedMatching +OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:STAP2 semapv:UnspecifiedMatching +OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch ncbigene:55620 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch UMLS:C1539607 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:30224 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:SLC52A2 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch ncbigene:79581 semapv:UnspecifiedMatching +OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:30225 semapv:UnspecifiedMatching +OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:SLC52A1 semapv:UnspecifiedMatching +OMIM:607883 SLC52A1 skos:exactMatch ncbigene:55065 semapv:UnspecifiedMatching +OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:19172 semapv:UnspecifiedMatching +OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:CMTM1 semapv:UnspecifiedMatching +OMIM:607884 CMTM1 skos:exactMatch ncbigene:113540 semapv:UnspecifiedMatching +OMIM:607885 CMTM2 skos:exactMatch hgnc.symbol:19173 semapv:UnspecifiedMatching +OMIM:607885 CMTM2 skos:exactMatch hgnc.symbol:CMTM2 semapv:UnspecifiedMatching +OMIM:607885 CMTM2 skos:exactMatch ncbigene:146225 semapv:UnspecifiedMatching +OMIM:607886 CMTM3 skos:exactMatch hgnc.symbol:19174 semapv:UnspecifiedMatching +OMIM:607886 CMTM3 skos:exactMatch hgnc.symbol:CMTM3 semapv:UnspecifiedMatching +OMIM:607886 CMTM3 skos:exactMatch ncbigene:123920 semapv:UnspecifiedMatching +OMIM:607887 CMTM4 skos:exactMatch hgnc.symbol:19175 semapv:UnspecifiedMatching +OMIM:607887 CMTM4 skos:exactMatch hgnc.symbol:CMTM4 semapv:UnspecifiedMatching +OMIM:607887 CMTM4 skos:exactMatch ncbigene:146223 semapv:UnspecifiedMatching +OMIM:607888 CMTM5 skos:exactMatch hgnc.symbol:19176 semapv:UnspecifiedMatching +OMIM:607888 CMTM5 skos:exactMatch hgnc.symbol:CMTM5 semapv:UnspecifiedMatching +OMIM:607888 CMTM5 skos:exactMatch ncbigene:116173 semapv:UnspecifiedMatching +OMIM:607889 CMTM6 skos:exactMatch hgnc.symbol:19177 semapv:UnspecifiedMatching +OMIM:607889 CMTM6 skos:exactMatch hgnc.symbol:CMTM6 semapv:UnspecifiedMatching +OMIM:607889 CMTM6 skos:exactMatch ncbigene:54918 semapv:UnspecifiedMatching +OMIM:607890 CMTM7 skos:exactMatch hgnc.symbol:19178 semapv:UnspecifiedMatching +OMIM:607890 CMTM7 skos:exactMatch hgnc.symbol:CMTM7 semapv:UnspecifiedMatching +OMIM:607890 CMTM7 skos:exactMatch ncbigene:112616 semapv:UnspecifiedMatching +OMIM:607891 CMTM8 skos:exactMatch hgnc.symbol:19179 semapv:UnspecifiedMatching +OMIM:607891 CMTM8 skos:exactMatch hgnc.symbol:CMTM8 semapv:UnspecifiedMatching +OMIM:607891 CMTM8 skos:exactMatch ncbigene:152189 semapv:UnspecifiedMatching +OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:21307 semapv:UnspecifiedMatching +OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:DSG4 semapv:UnspecifiedMatching +OMIM:607892 DSG4 skos:exactMatch ncbigene:147409 semapv:UnspecifiedMatching +OMIM:607893 ovarian cancer, susceptibility to, 1 skos:exactMatch MONDO:0011931 semapv:UnspecifiedMatching +OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:21715 semapv:UnspecifiedMatching +OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:PKD1L2 semapv:UnspecifiedMatching +OMIM:607894 PKD1L2 skos:exactMatch ncbigene:114780 semapv:UnspecifiedMatching +OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:21716 semapv:UnspecifiedMatching +OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:PKD1L3 semapv:UnspecifiedMatching +OMIM:607895 PKD1L3 skos:exactMatch ncbigene:342372 semapv:UnspecifiedMatching +OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:24203 semapv:UnspecifiedMatching +OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:OVCA2 semapv:UnspecifiedMatching +OMIM:607896 OVCA2 skos:exactMatch ncbigene:124641 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch UMLS:C1425623 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:18585 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:MSI2 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch ncbigene:124540 semapv:UnspecifiedMatching +OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:16228 semapv:UnspecifiedMatching +OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:TRIB3 semapv:UnspecifiedMatching +OMIM:607898 TRIB3 skos:exactMatch ncbigene:57761 semapv:UnspecifiedMatching +OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:18135 semapv:UnspecifiedMatching +OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:WT1-AS semapv:UnspecifiedMatching +OMIM:607899 WT1AS skos:exactMatch ncbigene:51352 semapv:UnspecifiedMatching +OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:15889 semapv:UnspecifiedMatching +OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:FERMT1 semapv:UnspecifiedMatching +OMIM:607900 FERMT1 skos:exactMatch ncbigene:55612 semapv:UnspecifiedMatching +OMIM:607901 FERMT3 skos:exactMatch hgnc.symbol:23151 semapv:UnspecifiedMatching +OMIM:607901 FERMT3 skos:exactMatch hgnc.symbol:FERMT3 semapv:UnspecifiedMatching +OMIM:607901 FERMT3 skos:exactMatch ncbigene:83706 semapv:UnspecifiedMatching +OMIM:607902 SNUPN skos:exactMatch hgnc.symbol:14245 semapv:UnspecifiedMatching +OMIM:607902 SNUPN skos:exactMatch hgnc.symbol:SNUPN semapv:UnspecifiedMatching +OMIM:607902 SNUPN skos:exactMatch ncbigene:10073 semapv:UnspecifiedMatching +OMIM:607903 hypotrichosis 6 skos:exactMatch MONDO:0011932 semapv:UnspecifiedMatching +OMIM:607904 CACNA1H skos:exactMatch hgnc.symbol:1395 semapv:UnspecifiedMatching +OMIM:607904 CACNA1H skos:exactMatch hgnc.symbol:CACNA1H semapv:UnspecifiedMatching +OMIM:607904 CACNA1H skos:exactMatch ncbigene:8912 semapv:UnspecifiedMatching +OMIM:607905 ALG2 skos:exactMatch hgnc.symbol:23159 semapv:UnspecifiedMatching +OMIM:607905 ALG2 skos:exactMatch hgnc.symbol:ALG2 semapv:UnspecifiedMatching +OMIM:607905 ALG2 skos:exactMatch ncbigene:85365 semapv:UnspecifiedMatching +OMIM:607906 congenital disorder of glycosylation, iia ii skos:exactMatch MONDO:0011933 semapv:UnspecifiedMatching +OMIM:607907 dermatofibrosarcoma protuberans skos:exactMatch MONDO:0011934 semapv:UnspecifiedMatching +OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:16084 semapv:UnspecifiedMatching +OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:LIMS2 semapv:UnspecifiedMatching +OMIM:607908 LIMS2 skos:exactMatch ncbigene:55679 semapv:UnspecifiedMatching +OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:16432 semapv:UnspecifiedMatching +OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:AZIN1 semapv:UnspecifiedMatching +OMIM:607909 AZIN1 skos:exactMatch ncbigene:51582 semapv:UnspecifiedMatching +OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:16666 semapv:UnspecifiedMatching +OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:KIF9 semapv:UnspecifiedMatching +OMIM:607910 KIF9 skos:exactMatch ncbigene:64147 semapv:UnspecifiedMatching +OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:19735 semapv:UnspecifiedMatching +OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:EPM2AIP1 semapv:UnspecifiedMatching +OMIM:607911 EPM2AIP1 skos:exactMatch ncbigene:9852 semapv:UnspecifiedMatching +OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:18136 semapv:UnspecifiedMatching +OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:SELENOT semapv:UnspecifiedMatching +OMIM:607912 SELENOT skos:exactMatch ncbigene:51714 semapv:UnspecifiedMatching +OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:4558 semapv:UnspecifiedMatching +OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:GPX6 semapv:UnspecifiedMatching +OMIM:607913 GPX6 skos:exactMatch ncbigene:257202 semapv:UnspecifiedMatching +OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:18251 semapv:UnspecifiedMatching +OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:SELENOH semapv:UnspecifiedMatching +OMIM:607914 SELENOH skos:exactMatch ncbigene:280636 semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch UMLS:C1842834 semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:29361 semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:SELENOI semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch ncbigene:85465 semapv:UnspecifiedMatching +OMIM:607916 SELENOK skos:exactMatch hgnc.symbol:30394 semapv:UnspecifiedMatching +OMIM:607916 SELENOK skos:exactMatch hgnc.symbol:SELENOK semapv:UnspecifiedMatching +OMIM:607916 SELENOK skos:exactMatch ncbigene:58515 semapv:UnspecifiedMatching +OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:30395 semapv:UnspecifiedMatching +OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:SELENOO semapv:UnspecifiedMatching +OMIM:607917 SELENOO skos:exactMatch ncbigene:83642 semapv:UnspecifiedMatching +OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:30396 semapv:UnspecifiedMatching +OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:SELENOS semapv:UnspecifiedMatching +OMIM:607918 SELENOS skos:exactMatch ncbigene:55829 semapv:UnspecifiedMatching +OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:30399 semapv:UnspecifiedMatching +OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:SELENOV semapv:UnspecifiedMatching +OMIM:607919 SELENOV skos:exactMatch ncbigene:348303 semapv:UnspecifiedMatching +OMIM:607921 retinitis pigmentosa 30 skos:exactMatch MONDO:0011935 semapv:UnspecifiedMatching +OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:18149 semapv:UnspecifiedMatching +OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:A4GALT semapv:UnspecifiedMatching +OMIM:607922 A4GALT skos:exactMatch ncbigene:53947 semapv:UnspecifiedMatching +OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:14986 semapv:UnspecifiedMatching +OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:SNAP91 semapv:UnspecifiedMatching +OMIM:607923 SNAP91 skos:exactMatch ncbigene:9892 semapv:UnspecifiedMatching +OMIM:607924 MALAT1 skos:exactMatch UMLS:C1537647 semapv:UnspecifiedMatching +OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:29665 semapv:UnspecifiedMatching +OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:MALAT1 semapv:UnspecifiedMatching +OMIM:607924 MALAT1 skos:exactMatch ncbigene:378938 semapv:UnspecifiedMatching +OMIM:607925 BTLA skos:exactMatch hgnc.symbol:21087 semapv:UnspecifiedMatching +OMIM:607925 BTLA skos:exactMatch hgnc.symbol:BTLA semapv:UnspecifiedMatching +OMIM:607925 BTLA skos:exactMatch ncbigene:151888 semapv:UnspecifiedMatching +OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:24972 semapv:UnspecifiedMatching +OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:HCFC2 semapv:UnspecifiedMatching +OMIM:607926 HCFC2 skos:exactMatch ncbigene:29915 semapv:UnspecifiedMatching +OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:20763 semapv:UnspecifiedMatching +OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:ANKFY1 semapv:UnspecifiedMatching +OMIM:607927 ANKFY1 skos:exactMatch ncbigene:51479 semapv:UnspecifiedMatching +OMIM:607928 WHRN skos:exactMatch hgnc.symbol:16361 semapv:UnspecifiedMatching +OMIM:607928 WHRN skos:exactMatch hgnc.symbol:WHRN semapv:UnspecifiedMatching +OMIM:607928 WHRN skos:exactMatch ncbigene:25861 semapv:UnspecifiedMatching +OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:21708 semapv:UnspecifiedMatching +OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:CCM2 semapv:UnspecifiedMatching +OMIM:607929 CCM2 skos:exactMatch ncbigene:83605 semapv:UnspecifiedMatching +OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:24435 semapv:UnspecifiedMatching +OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:CYTL1 semapv:UnspecifiedMatching +OMIM:607930 CYTL1 skos:exactMatch ncbigene:54360 semapv:UnspecifiedMatching +OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:31326 semapv:UnspecifiedMatching +OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:ATXN2L semapv:UnspecifiedMatching +OMIM:607931 ATXN2L skos:exactMatch ncbigene:11273 semapv:UnspecifiedMatching +OMIM:607932 microphthalmia, syndromic 6 skos:exactMatch MONDO:0011936 semapv:UnspecifiedMatching +OMIM:607933 SLC7A11 skos:exactMatch UMLS:C1420222 semapv:UnspecifiedMatching +OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:11059 semapv:UnspecifiedMatching +OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:SLC7A11 semapv:UnspecifiedMatching +OMIM:607933 SLC7A11 skos:exactMatch ncbigene:23657 semapv:UnspecifiedMatching +OMIM:607934 PADI1 skos:exactMatch hgnc.symbol:18367 semapv:UnspecifiedMatching +OMIM:607934 PADI1 skos:exactMatch hgnc.symbol:PADI1 semapv:UnspecifiedMatching +OMIM:607934 PADI1 skos:exactMatch ncbigene:29943 semapv:UnspecifiedMatching +OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:18341 semapv:UnspecifiedMatching +OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:PADI2 semapv:UnspecifiedMatching +OMIM:607935 PADI2 skos:exactMatch ncbigene:11240 semapv:UnspecifiedMatching +OMIM:607936 peeling skin syndrome 4 skos:exactMatch MONDO:0011937 semapv:UnspecifiedMatching +OMIM:607937 NANOG skos:exactMatch hgnc.symbol:20857 semapv:UnspecifiedMatching +OMIM:607937 NANOG skos:exactMatch hgnc.symbol:NANOG semapv:UnspecifiedMatching +OMIM:607937 NANOG skos:exactMatch ncbigene:79923 semapv:UnspecifiedMatching +OMIM:607938 NTM skos:exactMatch hgnc.symbol:17941 semapv:UnspecifiedMatching +OMIM:607938 NTM skos:exactMatch hgnc.symbol:NTM semapv:UnspecifiedMatching +OMIM:607938 NTM skos:exactMatch ncbigene:50863 semapv:UnspecifiedMatching +OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:20376 semapv:UnspecifiedMatching +OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:SUMF1 semapv:UnspecifiedMatching +OMIM:607939 SUMF1 skos:exactMatch ncbigene:285362 semapv:UnspecifiedMatching +OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:20415 semapv:UnspecifiedMatching +OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:SUMF2 semapv:UnspecifiedMatching +OMIM:607940 SUMF2 skos:exactMatch ncbigene:25870 semapv:UnspecifiedMatching +OMIM:607941 atrial septal defect 2 skos:exactMatch MONDO:0011938 semapv:UnspecifiedMatching +OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:30034 semapv:UnspecifiedMatching +OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:PIK3AP1 semapv:UnspecifiedMatching +OMIM:607942 PIK3AP1 skos:exactMatch ncbigene:118788 semapv:UnspecifiedMatching +OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:23181 semapv:UnspecifiedMatching +OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:RASA4 semapv:UnspecifiedMatching +OMIM:607943 RASA4 skos:exactMatch ncbigene:10156 semapv:UnspecifiedMatching +OMIM:607944 spondyloenchondrodysplasia with immune dysregulation skos:exactMatch MONDO:0011939 semapv:UnspecifiedMatching +OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:24040 semapv:UnspecifiedMatching +OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:ADIPOR1 semapv:UnspecifiedMatching +OMIM:607945 ADIPOR1 skos:exactMatch ncbigene:51094 semapv:UnspecifiedMatching +OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:24041 semapv:UnspecifiedMatching +OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:ADIPOR2 semapv:UnspecifiedMatching +OMIM:607946 ADIPOR2 skos:exactMatch ncbigene:79602 semapv:UnspecifiedMatching +OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:18893 semapv:UnspecifiedMatching +OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:KCNRG semapv:UnspecifiedMatching +OMIM:607947 KCNRG skos:exactMatch ncbigene:283518 semapv:UnspecifiedMatching +OMIM:607948 mycobacterium tuberculosis, susceptibility to skos:exactMatch MONDO:0011940 semapv:UnspecifiedMatching +OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch MONDO:0011941 semapv:UnspecifiedMatching +OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:17910 semapv:UnspecifiedMatching +OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:PRSS50 semapv:UnspecifiedMatching +OMIM:607950 testis-specific protease 50 skos:exactMatch ncbigene:29122 semapv:UnspecifiedMatching +OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:30794 semapv:UnspecifiedMatching +OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:CEP57 semapv:UnspecifiedMatching +OMIM:607951 CEP57 skos:exactMatch ncbigene:9702 semapv:UnspecifiedMatching +OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:11044 semapv:UnspecifiedMatching +OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:SLC6A11 semapv:UnspecifiedMatching +OMIM:607952 SLC6A11 skos:exactMatch ncbigene:6538 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch UMLS:C1539921 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:29868 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:TAGLN3 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch ncbigene:29114 semapv:UnspecifiedMatching +OMIM:607954 RANGRF skos:exactMatch UMLS:C1842760 semapv:UnspecifiedMatching +OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:17679 semapv:UnspecifiedMatching +OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:RANGRF semapv:UnspecifiedMatching +OMIM:607954 RANGRF skos:exactMatch ncbigene:29098 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch UMLS:C1426071 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch UMLS:C2675711 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch UMLS:C5193062 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:19182 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:SASH1 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch ncbigene:23328 semapv:UnspecifiedMatching +OMIM:607956 MED8 skos:exactMatch hgnc.symbol:19971 semapv:UnspecifiedMatching +OMIM:607956 MED8 skos:exactMatch hgnc.symbol:MED8 semapv:UnspecifiedMatching +OMIM:607956 MED8 skos:exactMatch ncbigene:112950 semapv:UnspecifiedMatching +OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:19341 semapv:UnspecifiedMatching +OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:CAMK1D semapv:UnspecifiedMatching +OMIM:607957 CAMK1D skos:exactMatch ncbigene:57118 semapv:UnspecifiedMatching +OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:19666 semapv:UnspecifiedMatching +OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:STXBP6 semapv:UnspecifiedMatching +OMIM:607958 STXBP6 skos:exactMatch ncbigene:29091 semapv:UnspecifiedMatching +OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:11058 semapv:UnspecifiedMatching +OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:SLC7A10 semapv:UnspecifiedMatching +OMIM:607959 SLC7A10 skos:exactMatch ncbigene:56301 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch UMLS:C1424503 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:16717 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:DHX32 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch ncbigene:55760 semapv:UnspecifiedMatching +OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:10741 semapv:UnspecifiedMatching +OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:SEMA7A semapv:UnspecifiedMatching +OMIM:607961 SEMA7A skos:exactMatch ncbigene:8482 semapv:UnspecifiedMatching +OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:31605 semapv:UnspecifiedMatching +OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:MIR23A semapv:UnspecifiedMatching +OMIM:607962 MIR23A skos:exactMatch ncbigene:407010 semapv:UnspecifiedMatching +OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:15774 semapv:UnspecifiedMatching +OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:MBD3L1 semapv:UnspecifiedMatching +OMIM:607963 MBD3L1 skos:exactMatch ncbigene:85509 semapv:UnspecifiedMatching +OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:18532 semapv:UnspecifiedMatching +OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:MBD3L2 semapv:UnspecifiedMatching +OMIM:607964 MBD3L2 skos:exactMatch ncbigene:125997 semapv:UnspecifiedMatching +OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch MONDO:0011942 semapv:UnspecifiedMatching +OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch MONDO:0011943 semapv:UnspecifiedMatching +OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch MONDO:0011944 semapv:UnspecifiedMatching +OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:30000 semapv:UnspecifiedMatching +OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:BBS9 semapv:UnspecifiedMatching +OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch ncbigene:27241 semapv:UnspecifiedMatching +OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:13659 semapv:UnspecifiedMatching +OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:CLK4 semapv:UnspecifiedMatching +OMIM:607969 CLK4 skos:exactMatch ncbigene:57396 semapv:UnspecifiedMatching +OMIM:607970 GPR135 skos:exactMatch UMLS:C1426588 semapv:UnspecifiedMatching +OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:19991 semapv:UnspecifiedMatching +OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:GPR135 semapv:UnspecifiedMatching +OMIM:607970 GPR135 skos:exactMatch ncbigene:64582 semapv:UnspecifiedMatching +OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:13621 semapv:UnspecifiedMatching +OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:SLC6A15 semapv:UnspecifiedMatching +OMIM:607971 SLC6A15 skos:exactMatch ncbigene:55117 semapv:UnspecifiedMatching +OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:13622 semapv:UnspecifiedMatching +OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:SLC6A16 semapv:UnspecifiedMatching +OMIM:607972 SLC6A16 skos:exactMatch ncbigene:28968 semapv:UnspecifiedMatching +OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:13823 semapv:UnspecifiedMatching +OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:NETO1 semapv:UnspecifiedMatching +OMIM:607973 NETO1 skos:exactMatch ncbigene:81832 semapv:UnspecifiedMatching +OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:14644 semapv:UnspecifiedMatching +OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:NETO2 semapv:UnspecifiedMatching +OMIM:607974 NETO2 skos:exactMatch ncbigene:81831 semapv:UnspecifiedMatching +OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:30093 semapv:UnspecifiedMatching +OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:OSGIN1 semapv:UnspecifiedMatching +OMIM:607975 OSGIN1 skos:exactMatch ncbigene:29948 semapv:UnspecifiedMatching +OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:16232 semapv:UnspecifiedMatching +OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:COX4I2 semapv:UnspecifiedMatching +OMIM:607976 COX4I2 skos:exactMatch ncbigene:84701 semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch UMLS:C1427267 semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch hgnc.symbol:21041 semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch hgnc.symbol:HECA semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch ncbigene:51696 semapv:UnspecifiedMatching +OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:10528 semapv:UnspecifiedMatching +OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:SAMSN1 semapv:UnspecifiedMatching +OMIM:607978 SAMSN1 skos:exactMatch ncbigene:64092 semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch UMLS:C1422627 semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch hgnc.symbol:14408 semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch hgnc.symbol:SERHL semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch ncbigene:94009 semapv:UnspecifiedMatching +OMIM:607980 TOMM7 skos:exactMatch UMLS:C1427672 semapv:UnspecifiedMatching +OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:21648 semapv:UnspecifiedMatching +OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:TOMM7 semapv:UnspecifiedMatching +OMIM:607980 TOMM7 skos:exactMatch ncbigene:54543 semapv:UnspecifiedMatching +OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:17623 semapv:UnspecifiedMatching +OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:NUB1 semapv:UnspecifiedMatching +OMIM:607981 NUB1 skos:exactMatch ncbigene:51667 semapv:UnspecifiedMatching +OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:14372 semapv:UnspecifiedMatching +OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:SCYL1 semapv:UnspecifiedMatching +OMIM:607982 SCYL1 skos:exactMatch ncbigene:57410 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch UMLS:C1822658 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch hgnc.symbol:25676 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch hgnc.symbol:GORAB semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch ncbigene:92344 semapv:UnspecifiedMatching +OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:15533 semapv:UnspecifiedMatching +OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:SPRY4 semapv:UnspecifiedMatching +OMIM:607984 SPRY4 skos:exactMatch ncbigene:81848 semapv:UnspecifiedMatching +OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:17378 semapv:UnspecifiedMatching +OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:NAGPA semapv:UnspecifiedMatching +OMIM:607985 NAGPA skos:exactMatch ncbigene:51172 semapv:UnspecifiedMatching +OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:18901 semapv:UnspecifiedMatching +OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:S100A14 semapv:UnspecifiedMatching +OMIM:607986 S100A14 skos:exactMatch ncbigene:57402 semapv:UnspecifiedMatching +OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:24637 semapv:UnspecifiedMatching +OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:DNAJC10 semapv:UnspecifiedMatching +OMIM:607987 DNAJC10 skos:exactMatch ncbigene:54431 semapv:UnspecifiedMatching +OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:13564 semapv:UnspecifiedMatching +OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:SPOCK2 semapv:UnspecifiedMatching +OMIM:607988 SPOCK2 skos:exactMatch ncbigene:9806 semapv:UnspecifiedMatching +OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:13565 semapv:UnspecifiedMatching +OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:SPOCK3 semapv:UnspecifiedMatching +OMIM:607989 SPOCK3 skos:exactMatch ncbigene:50859 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch UMLS:C1421348 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:12556 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:UHRF1 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch ncbigene:29128 semapv:UnspecifiedMatching +OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:11070 semapv:UnspecifiedMatching +OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:SLC8A3 semapv:UnspecifiedMatching +OMIM:607991 SLC8A3 skos:exactMatch ncbigene:6547 semapv:UnspecifiedMatching +OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:18643 semapv:UnspecifiedMatching +OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:SUGP1 semapv:UnspecifiedMatching +OMIM:607992 SUGP1 skos:exactMatch ncbigene:57794 semapv:UnspecifiedMatching +OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:18641 semapv:UnspecifiedMatching +OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:SUGP2 semapv:UnspecifiedMatching +OMIM:607993 SUGP2 skos:exactMatch ncbigene:10147 semapv:UnspecifiedMatching +OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:30654 semapv:UnspecifiedMatching +OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:XRN1 semapv:UnspecifiedMatching +OMIM:607994 XRN1 skos:exactMatch ncbigene:54464 semapv:UnspecifiedMatching +OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:12570 semapv:UnspecifiedMatching +OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:UNC93A semapv:UnspecifiedMatching +OMIM:607995 UNC93A skos:exactMatch ncbigene:54346 semapv:UnspecifiedMatching +OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:30099 semapv:UnspecifiedMatching +OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:NPB semapv:UnspecifiedMatching +OMIM:607996 preproneuropeptide B skos:exactMatch ncbigene:256933 semapv:UnspecifiedMatching +OMIM:607997 NPW skos:exactMatch hgnc.symbol:30509 semapv:UnspecifiedMatching +OMIM:607997 NPW skos:exactMatch hgnc.symbol:NPW semapv:UnspecifiedMatching +OMIM:607997 NPW skos:exactMatch ncbigene:283869 semapv:UnspecifiedMatching +OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:2073 semapv:UnspecifiedMatching +OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:TPP1 semapv:UnspecifiedMatching +OMIM:607998 TPP1 skos:exactMatch ncbigene:1200 semapv:UnspecifiedMatching +OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:19088 semapv:UnspecifiedMatching +OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:ASH1L semapv:UnspecifiedMatching +OMIM:607999 ASH1L skos:exactMatch ncbigene:55870 semapv:UnspecifiedMatching +OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:30782 semapv:UnspecifiedMatching +OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:NAA15 semapv:UnspecifiedMatching +OMIM:608000 NAA15 skos:exactMatch ncbigene:80155 semapv:UnspecifiedMatching +OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:7907 semapv:UnspecifiedMatching +OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:NPHP3 semapv:UnspecifiedMatching +OMIM:608002 NPHP3 skos:exactMatch ncbigene:27031 semapv:UnspecifiedMatching +OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:19006 semapv:UnspecifiedMatching +OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:HIPK1 semapv:UnspecifiedMatching +OMIM:608003 HIPK1 skos:exactMatch ncbigene:204851 semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch UMLS:C1538057 semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:29805 semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:NFKBIZ semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch ncbigene:64332 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch UMLS:C1822725 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:24624 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:SIL1 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch ncbigene:64374 semapv:UnspecifiedMatching +OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:6648 semapv:UnspecifiedMatching +OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:LMOD2 semapv:UnspecifiedMatching +OMIM:608006 LMOD2 skos:exactMatch ncbigene:442721 semapv:UnspecifiedMatching +OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:19238 semapv:UnspecifiedMatching +OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:PLEK2 semapv:UnspecifiedMatching +OMIM:608007 PLEK2 skos:exactMatch ncbigene:26499 semapv:UnspecifiedMatching +OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:534 semapv:UnspecifiedMatching +OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:ANXA10 semapv:UnspecifiedMatching +OMIM:608008 ANXA10 skos:exactMatch ncbigene:11199 semapv:UnspecifiedMatching +OMIM:608009 AK5 skos:exactMatch hgnc.symbol:365 semapv:UnspecifiedMatching +OMIM:608009 AK5 skos:exactMatch hgnc.symbol:AK5 semapv:UnspecifiedMatching +OMIM:608009 AK5 skos:exactMatch ncbigene:26289 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1417777 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1842722 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch UMLS:C4693795 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:7898 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:NPC1L1 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch ncbigene:29881 semapv:UnspecifiedMatching +OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:29931 semapv:UnspecifiedMatching +OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:GNL3 semapv:UnspecifiedMatching +OMIM:608011 GNL3 skos:exactMatch ncbigene:26354 semapv:UnspecifiedMatching +OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:14180 semapv:UnspecifiedMatching +OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:PDIA2 semapv:UnspecifiedMatching +OMIM:608012 PDIA2 skos:exactMatch ncbigene:64714 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch MONDO:0011945 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:85212 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch UMLS:C1428937 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:30171 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:HSPB8 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch ncbigene:26353 semapv:UnspecifiedMatching +OMIM:608015 TSKU skos:exactMatch hgnc.symbol:28850 semapv:UnspecifiedMatching +OMIM:608015 TSKU skos:exactMatch hgnc.symbol:TSKU semapv:UnspecifiedMatching +OMIM:608015 TSKU skos:exactMatch ncbigene:25987 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch UMLS:C1824732 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch hgnc.symbol:24604 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch hgnc.symbol:COA4 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch ncbigene:51287 semapv:UnspecifiedMatching +OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:17865 semapv:UnspecifiedMatching +OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:FAM162A semapv:UnspecifiedMatching +OMIM:608017 FAM162A skos:exactMatch ncbigene:26355 semapv:UnspecifiedMatching +OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:15475 semapv:UnspecifiedMatching +OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:PRSS27 semapv:UnspecifiedMatching +OMIM:608018 PRSS27 skos:exactMatch ncbigene:83886 semapv:UnspecifiedMatching +OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:19315 semapv:UnspecifiedMatching +OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:TNIP3 semapv:UnspecifiedMatching +OMIM:608019 TNIP3 skos:exactMatch ncbigene:79931 semapv:UnspecifiedMatching +OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:8044 semapv:UnspecifiedMatching +OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:NUCB2 semapv:UnspecifiedMatching +OMIM:608020 NUCB2 skos:exactMatch ncbigene:4925 semapv:UnspecifiedMatching +OMIM:608021 WFIKKN1 skos:exactMatch hgnc.symbol:30912 semapv:UnspecifiedMatching +OMIM:608021 WFIKKN1 skos:exactMatch hgnc.symbol:WFIKKN1 semapv:UnspecifiedMatching +OMIM:608021 WFIKKN1 skos:exactMatch ncbigene:117166 semapv:UnspecifiedMatching +OMIM:608022 diaphanospondylodysostosis skos:exactMatch MONDO:0011946 semapv:UnspecifiedMatching +OMIM:608023 DDX56 skos:exactMatch UMLS:C1425370 semapv:UnspecifiedMatching +OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:18193 semapv:UnspecifiedMatching +OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:DDX56 semapv:UnspecifiedMatching +OMIM:608023 DDX56 skos:exactMatch ncbigene:54606 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch UMLS:C1422782 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:14601 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:ECI2 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch ncbigene:10455 semapv:UnspecifiedMatching +OMIM:608025 NBAS skos:exactMatch hgnc.symbol:15625 semapv:UnspecifiedMatching +OMIM:608025 NBAS skos:exactMatch hgnc.symbol:NBAS semapv:UnspecifiedMatching +OMIM:608025 NBAS skos:exactMatch ncbigene:51594 semapv:UnspecifiedMatching +OMIM:608026 hypertensive nephropathy skos:exactMatch MONDO:0024633 semapv:UnspecifiedMatching +OMIM:608027 pontocerebellar hypoplasia, iia 3 skos:exactMatch MONDO:0011948 semapv:UnspecifiedMatching +OMIM:608028 thai symphalangism syndrome skos:exactMatch MONDO:0011949 semapv:UnspecifiedMatching +OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 skos:exactMatch MONDO:0011950 semapv:UnspecifiedMatching +OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:exactMatch MONDO:0011951 semapv:UnspecifiedMatching +OMIM:608031 amyotrophic lateral sclerosis 7 skos:exactMatch MONDO:0011952 semapv:UnspecifiedMatching +OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 skos:exactMatch MONDO:0011953 semapv:UnspecifiedMatching +OMIM:608034 ASPA skos:exactMatch hgnc.symbol:756 semapv:UnspecifiedMatching +OMIM:608034 ASPA skos:exactMatch hgnc.symbol:ASPA semapv:UnspecifiedMatching +OMIM:608034 ASPA skos:exactMatch ncbigene:443 semapv:UnspecifiedMatching +OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch MONDO:0011954 semapv:UnspecifiedMatching +OMIM:608036 iia 2 diabetes mellitus 4 skos:exactMatch MONDO:0011955 semapv:UnspecifiedMatching +OMIM:608036 iia 2 diabetes mellitus 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching +OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:29270 semapv:UnspecifiedMatching +OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:CHPF2 semapv:UnspecifiedMatching +OMIM:608037 CHPF2 skos:exactMatch ncbigene:54480 semapv:UnspecifiedMatching +OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:15916 semapv:UnspecifiedMatching +OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:PAK5 semapv:UnspecifiedMatching +OMIM:608038 PAK5 skos:exactMatch ncbigene:57144 semapv:UnspecifiedMatching +OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:22988 semapv:UnspecifiedMatching +OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:SPATA9 semapv:UnspecifiedMatching +OMIM:608039 SPATA9 skos:exactMatch ncbigene:83890 semapv:UnspecifiedMatching +OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:21424 semapv:UnspecifiedMatching +OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:IFT74 semapv:UnspecifiedMatching +OMIM:608040 IFT74 skos:exactMatch ncbigene:80173 semapv:UnspecifiedMatching +OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:21732 semapv:UnspecifiedMatching +OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:ANTXR2 semapv:UnspecifiedMatching +OMIM:608041 ANTXR2 skos:exactMatch ncbigene:118429 semapv:UnspecifiedMatching +OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:15584 semapv:UnspecifiedMatching +OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:SYTL1 semapv:UnspecifiedMatching +OMIM:608042 SYTL1 skos:exactMatch ncbigene:84958 semapv:UnspecifiedMatching +OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:19873 semapv:UnspecifiedMatching +OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:GALNT10 semapv:UnspecifiedMatching +OMIM:608043 GALNT10 skos:exactMatch ncbigene:55568 semapv:UnspecifiedMatching +OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:19119 semapv:UnspecifiedMatching +OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:SLC5A8 semapv:UnspecifiedMatching +OMIM:608044 SLC5A8 skos:exactMatch ncbigene:160728 semapv:UnspecifiedMatching +OMIM:608046 SYVN1 skos:exactMatch UMLS:C1539907 semapv:UnspecifiedMatching +OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:20738 semapv:UnspecifiedMatching +OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:SYVN1 semapv:UnspecifiedMatching +OMIM:608046 SYVN1 skos:exactMatch ncbigene:84447 semapv:UnspecifiedMatching +OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:13478 semapv:UnspecifiedMatching +OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:UBE3B semapv:UnspecifiedMatching +OMIM:608047 UBE3B skos:exactMatch ncbigene:89910 semapv:UnspecifiedMatching +OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:19336 semapv:UnspecifiedMatching +OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:SHPRH semapv:UnspecifiedMatching +OMIM:608048 SHPRH skos:exactMatch ncbigene:257218 semapv:UnspecifiedMatching +OMIM:608049 autism, susceptibility to, 3 skos:exactMatch MONDO:0011956 semapv:UnspecifiedMatching +OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:11995 semapv:UnspecifiedMatching +OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:TOR1B semapv:UnspecifiedMatching +OMIM:608050 TOR1B skos:exactMatch ncbigene:27348 semapv:UnspecifiedMatching +OMIM:608051 macular dystrophy, retinal, 2 skos:exactMatch MONDO:0011957 semapv:UnspecifiedMatching +OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:11996 semapv:UnspecifiedMatching +OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:TOR2A semapv:UnspecifiedMatching +OMIM:608052 TOR2A skos:exactMatch ncbigene:27433 semapv:UnspecifiedMatching +OMIM:608053 ETFA skos:exactMatch hgnc.symbol:3481 semapv:UnspecifiedMatching +OMIM:608053 ETFA skos:exactMatch hgnc.symbol:ETFA semapv:UnspecifiedMatching +OMIM:608053 ETFA skos:exactMatch ncbigene:2108 semapv:UnspecifiedMatching +OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:2611 semapv:UnspecifiedMatching +OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:CYP2A7 semapv:UnspecifiedMatching +OMIM:608054 CYP2A7 skos:exactMatch ncbigene:1549 semapv:UnspecifiedMatching +OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:2608 semapv:UnspecifiedMatching +OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:CYP2A13 semapv:UnspecifiedMatching +OMIM:608055 CYP2A13 skos:exactMatch ncbigene:1553 semapv:UnspecifiedMatching +OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:28875 semapv:UnspecifiedMatching +OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:DNASE2B semapv:UnspecifiedMatching +OMIM:608057 DNASE2B skos:exactMatch ncbigene:58511 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch UMLS:C1428751 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:28906 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:G6PC2 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch ncbigene:57818 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch UMLS:C1423880 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch UMLS:C4017128 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch hgnc.symbol:15977 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch hgnc.symbol:HES7 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch ncbigene:84667 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch UMLS:C1539667 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch hgnc.symbol:24149 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch hgnc.symbol:HES4 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch ncbigene:57801 semapv:UnspecifiedMatching +OMIM:608061 TOMM40 skos:exactMatch UMLS:C1425229 semapv:UnspecifiedMatching +OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:18001 semapv:UnspecifiedMatching +OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:TOMM40 semapv:UnspecifiedMatching +OMIM:608061 TOMM40 skos:exactMatch ncbigene:10452 semapv:UnspecifiedMatching +OMIM:608062 DCDC1 skos:exactMatch UMLS:C1427037 semapv:UnspecifiedMatching +OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:20625 semapv:UnspecifiedMatching +OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:DCDC1 semapv:UnspecifiedMatching +OMIM:608062 DCDC1 skos:exactMatch ncbigene:341019 semapv:UnspecifiedMatching +OMIM:608063 bile and pancreatic ducts, complete absence of skos:exactMatch MONDO:0011958 semapv:UnspecifiedMatching +OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:6356 semapv:UnspecifiedMatching +OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:KLHL5 semapv:UnspecifiedMatching +OMIM:608064 KLHL5 skos:exactMatch ncbigene:51088 semapv:UnspecifiedMatching +OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:14679 semapv:UnspecifiedMatching +OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:SLC38A4 semapv:UnspecifiedMatching +OMIM:608065 SLC38A4 skos:exactMatch ncbigene:55089 semapv:UnspecifiedMatching +OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:21605 semapv:UnspecifiedMatching +OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:SAFB2 semapv:UnspecifiedMatching +OMIM:608066 SAFB2 skos:exactMatch ncbigene:9667 semapv:UnspecifiedMatching +OMIM:608067 RFWD2 skos:exactMatch UMLS:C1538830 semapv:UnspecifiedMatching +OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:17440 semapv:UnspecifiedMatching +OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:COP1 semapv:UnspecifiedMatching +OMIM:608067 RFWD2 skos:exactMatch ncbigene:64326 semapv:UnspecifiedMatching +OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch MONDO:0011959 semapv:UnspecifiedMatching +OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch Orphanet:3243 semapv:UnspecifiedMatching +OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching +OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:18185 semapv:UnspecifiedMatching +OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:ERRFI1 semapv:UnspecifiedMatching +OMIM:608069 ERRFI1 skos:exactMatch ncbigene:54206 semapv:UnspecifiedMatching +OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:13744 semapv:UnspecifiedMatching +OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:HERPUD1 semapv:UnspecifiedMatching +OMIM:608070 HERPUD1 skos:exactMatch ncbigene:9709 semapv:UnspecifiedMatching +OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:10847 semapv:UnspecifiedMatching +OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:FBXW4 semapv:UnspecifiedMatching +OMIM:608071 FBXW4 skos:exactMatch ncbigene:6468 semapv:UnspecifiedMatching +OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:21576 semapv:UnspecifiedMatching +OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:NHLRC1 semapv:UnspecifiedMatching +OMIM:608072 NHLRC1 skos:exactMatch ncbigene:378884 semapv:UnspecifiedMatching +OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:7930 semapv:UnspecifiedMatching +OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:NPM2 semapv:UnspecifiedMatching +OMIM:608073 NPM2 skos:exactMatch ncbigene:10361 semapv:UnspecifiedMatching +OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:8766 semapv:UnspecifiedMatching +OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:PDCD6IP semapv:UnspecifiedMatching +OMIM:608074 PDCD6IP skos:exactMatch ncbigene:10015 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch UMLS:C1426095 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:19218 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:PLCZ1 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch ncbigene:89869 semapv:UnspecifiedMatching +OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:11940 semapv:UnspecifiedMatching +OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:TNK1 semapv:UnspecifiedMatching +OMIM:608076 TNK1 skos:exactMatch ncbigene:8711 semapv:UnspecifiedMatching +OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:8538 semapv:UnspecifiedMatching +OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:P2RX6 semapv:UnspecifiedMatching +OMIM:608077 P2RXL1 skos:exactMatch ncbigene:9127 semapv:UnspecifiedMatching +OMIM:608078 schizophrenia 11 skos:exactMatch MONDO:0011960 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch UMLS:C1422479 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:14197 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:ELAC1 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch ncbigene:55520 semapv:UnspecifiedMatching +OMIM:608080 MRO skos:exactMatch hgnc.symbol:24121 semapv:UnspecifiedMatching +OMIM:608080 MRO skos:exactMatch hgnc.symbol:MRO semapv:UnspecifiedMatching +OMIM:608080 MRO skos:exactMatch ncbigene:83876 semapv:UnspecifiedMatching +OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:17167 semapv:UnspecifiedMatching +OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:SYT15 semapv:UnspecifiedMatching +OMIM:608081 SYT15 skos:exactMatch ncbigene:83849 semapv:UnspecifiedMatching +OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:12845 semapv:UnspecifiedMatching +OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:YPEL1 semapv:UnspecifiedMatching +OMIM:608082 YPEL1 skos:exactMatch ncbigene:29799 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C1412477 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C1720779 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C3889891 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017129 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017130 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017131 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017132 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017133 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017134 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017135 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017136 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017137 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017138 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch UMLS:C4017139 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:609 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:APOC2 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch ncbigene:344 semapv:UnspecifiedMatching +OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:23237 semapv:UnspecifiedMatching +OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:GIMAP1 semapv:UnspecifiedMatching +OMIM:608084 GIMAP1 skos:exactMatch ncbigene:170575 semapv:UnspecifiedMatching +OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:21789 semapv:UnspecifiedMatching +OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:GIMAP2 semapv:UnspecifiedMatching +OMIM:608085 GIMAP2 skos:exactMatch ncbigene:26157 semapv:UnspecifiedMatching +OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:18005 semapv:UnspecifiedMatching +OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:GIMAP5 semapv:UnspecifiedMatching +OMIM:608086 GIMAP5 skos:exactMatch ncbigene:55340 semapv:UnspecifiedMatching +OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:21872 semapv:UnspecifiedMatching +OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:GIMAP4 semapv:UnspecifiedMatching +OMIM:608087 GIMAP4 skos:exactMatch ncbigene:55303 semapv:UnspecifiedMatching +OMIM:608088 neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux skos:exactMatch MONDO:0011961 semapv:UnspecifiedMatching +OMIM:608089 endometrial cancer skos:exactMatch MONDO:0011962 semapv:UnspecifiedMatching +OMIM:608089 endometrial cancer skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching +OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:17055 semapv:UnspecifiedMatching +OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:MLXIP semapv:UnspecifiedMatching +OMIM:608090 MLXIP skos:exactMatch ncbigene:22877 semapv:UnspecifiedMatching +OMIM:608091 joubert syndrome 2 skos:exactMatch MONDO:0011963 semapv:UnspecifiedMatching +OMIM:608092 PALLD skos:exactMatch hgnc.symbol:17068 semapv:UnspecifiedMatching +OMIM:608092 PALLD skos:exactMatch hgnc.symbol:PALLD semapv:UnspecifiedMatching +OMIM:608092 PALLD skos:exactMatch ncbigene:23022 semapv:UnspecifiedMatching +OMIM:608093 congenital disorder of glycosylation, iia ij skos:exactMatch MONDO:0011964 semapv:UnspecifiedMatching +OMIM:608094 SLC37A1 skos:exactMatch UMLS:C1420190 semapv:UnspecifiedMatching +OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:11024 semapv:UnspecifiedMatching +OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:SLC37A1 semapv:UnspecifiedMatching +OMIM:608094 SLC37A1 skos:exactMatch ncbigene:54020 semapv:UnspecifiedMatching +OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:23136 semapv:UnspecifiedMatching +OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:SCNM1 semapv:UnspecifiedMatching +OMIM:608095 SCNM1 skos:exactMatch ncbigene:79005 semapv:UnspecifiedMatching +OMIM:608096 epilepsy, familial temporal lobe, 2 skos:exactMatch MONDO:0011965 semapv:UnspecifiedMatching +OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch MONDO:0011966 semapv:UnspecifiedMatching +OMIM:608098 periventricular nodular heterotopia 3 skos:exactMatch MONDO:0011967 semapv:UnspecifiedMatching +OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 skos:exactMatch MONDO:0011968 semapv:UnspecifiedMatching +OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:16287 semapv:UnspecifiedMatching +OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:NFU1 semapv:UnspecifiedMatching +OMIM:608100 NFU1 skos:exactMatch ncbigene:27247 semapv:UnspecifiedMatching +OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:30616 semapv:UnspecifiedMatching +OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:H1-9P semapv:UnspecifiedMatching +OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch ncbigene:373861 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch UMLS:C1413497 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:2076 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:CLN5 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch ncbigene:1203 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch UMLS:C1427957 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch UMLS:C4694013 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch UMLS:C4694014 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:23161 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:ALG8 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch ncbigene:79053 semapv:UnspecifiedMatching +OMIM:608104 congenital disorder of glycosylation, iia ih skos:exactMatch MONDO:0011969 semapv:UnspecifiedMatching +OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp skos:exactMatch MONDO:0011970 semapv:UnspecifiedMatching +OMIM:608106 immunodeficiency with hyper-igm, iia 5 skos:exactMatch MONDO:0011971 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C1417104 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch hgnc.symbol:6998 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch hgnc.symbol:MEFV semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch ncbigene:4210 semapv:UnspecifiedMatching +OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:1873 semapv:UnspecifiedMatching +OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:CFDP1 semapv:UnspecifiedMatching +OMIM:608108 CFDP1 skos:exactMatch ncbigene:10428 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch UMLS:C1423539 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch UMLS:C4551958 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:15508 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:PUS1 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch ncbigene:80324 semapv:UnspecifiedMatching +OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:16061 semapv:UnspecifiedMatching +OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:PAK6 semapv:UnspecifiedMatching +OMIM:608110 PAK6 skos:exactMatch ncbigene:56924 semapv:UnspecifiedMatching +OMIM:608111 FANCL skos:exactMatch hgnc.symbol:20748 semapv:UnspecifiedMatching +OMIM:608111 FANCL skos:exactMatch hgnc.symbol:FANCL semapv:UnspecifiedMatching +OMIM:608111 FANCL skos:exactMatch ncbigene:55120 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch UMLS:C1823479 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:29947 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:TRAK1 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch ncbigene:22906 semapv:UnspecifiedMatching +OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:14075 semapv:UnspecifiedMatching +OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:SGCZ semapv:UnspecifiedMatching +OMIM:608113 SGCZ skos:exactMatch ncbigene:137868 semapv:UnspecifiedMatching +OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:16486 semapv:UnspecifiedMatching +OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:ADAP1 semapv:UnspecifiedMatching +OMIM:608114 CENTA1 skos:exactMatch ncbigene:11033 semapv:UnspecifiedMatching +OMIM:608115 ovarian hyperstimulation syndrome skos:exactMatch MONDO:0011972 semapv:UnspecifiedMatching +OMIM:608116 HHATL skos:exactMatch hgnc.symbol:13242 semapv:UnspecifiedMatching +OMIM:608116 HHATL skos:exactMatch hgnc.symbol:HHATL semapv:UnspecifiedMatching +OMIM:608116 HHATL skos:exactMatch ncbigene:57467 semapv:UnspecifiedMatching +OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:15580 semapv:UnspecifiedMatching +OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:PDE4DIP semapv:UnspecifiedMatching +OMIM:608117 PDE4DIP skos:exactMatch ncbigene:9659 semapv:UnspecifiedMatching +OMIM:608118 zinc deficiency, transient neonatal skos:exactMatch MONDO:0011973 semapv:UnspecifiedMatching +OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching +OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching +OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching +OMIM:608120 PARVA skos:exactMatch hgnc.symbol:14652 semapv:UnspecifiedMatching +OMIM:608120 PARVA skos:exactMatch hgnc.symbol:PARVA semapv:UnspecifiedMatching +OMIM:608120 PARVA skos:exactMatch ncbigene:55742 semapv:UnspecifiedMatching +OMIM:608121 PARVB skos:exactMatch UMLS:C1422816 semapv:UnspecifiedMatching +OMIM:608121 PARVB skos:exactMatch hgnc.symbol:14653 semapv:UnspecifiedMatching +OMIM:608121 PARVB skos:exactMatch hgnc.symbol:PARVB semapv:UnspecifiedMatching +OMIM:608121 PARVB skos:exactMatch ncbigene:29780 semapv:UnspecifiedMatching +OMIM:608122 PARVG skos:exactMatch hgnc.symbol:14654 semapv:UnspecifiedMatching +OMIM:608122 PARVG skos:exactMatch hgnc.symbol:PARVG semapv:UnspecifiedMatching +OMIM:608122 PARVG skos:exactMatch ncbigene:64098 semapv:UnspecifiedMatching +OMIM:608123 ACOT8 skos:exactMatch hgnc.symbol:15919 semapv:UnspecifiedMatching +OMIM:608123 ACOT8 skos:exactMatch hgnc.symbol:ACOT8 semapv:UnspecifiedMatching +OMIM:608123 ACOT8 skos:exactMatch ncbigene:10005 semapv:UnspecifiedMatching +OMIM:608124 XYLT1 skos:exactMatch hgnc.symbol:15516 semapv:UnspecifiedMatching +OMIM:608124 XYLT1 skos:exactMatch hgnc.symbol:XYLT1 semapv:UnspecifiedMatching +OMIM:608124 XYLT1 skos:exactMatch ncbigene:64131 semapv:UnspecifiedMatching +OMIM:608125 XYLT2 skos:exactMatch hgnc.symbol:15517 semapv:UnspecifiedMatching +OMIM:608125 XYLT2 skos:exactMatch hgnc.symbol:XYLT2 semapv:UnspecifiedMatching +OMIM:608125 XYLT2 skos:exactMatch ncbigene:64132 semapv:UnspecifiedMatching +OMIM:608126 WDHD1 skos:exactMatch UMLS:C1427963 semapv:UnspecifiedMatching +OMIM:608126 WDHD1 skos:exactMatch hgnc.symbol:23170 semapv:UnspecifiedMatching +OMIM:608126 WDHD1 skos:exactMatch hgnc.symbol:WDHD1 semapv:UnspecifiedMatching +OMIM:608126 WDHD1 skos:exactMatch ncbigene:11169 semapv:UnspecifiedMatching +OMIM:608127 PBX4 skos:exactMatch hgnc.symbol:13403 semapv:UnspecifiedMatching +OMIM:608127 PBX4 skos:exactMatch hgnc.symbol:PBX4 semapv:UnspecifiedMatching +OMIM:608127 PBX4 skos:exactMatch ncbigene:80714 semapv:UnspecifiedMatching +OMIM:608129 UBAC1 skos:exactMatch hgnc.symbol:30221 semapv:UnspecifiedMatching +OMIM:608129 UBAC1 skos:exactMatch hgnc.symbol:UBAC1 semapv:UnspecifiedMatching +OMIM:608129 UBAC1 skos:exactMatch ncbigene:10422 semapv:UnspecifiedMatching +OMIM:608130 NUAK1 skos:exactMatch hgnc.symbol:14311 semapv:UnspecifiedMatching +OMIM:608130 NUAK1 skos:exactMatch hgnc.symbol:NUAK1 semapv:UnspecifiedMatching +OMIM:608130 NUAK1 skos:exactMatch ncbigene:9891 semapv:UnspecifiedMatching +OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:29558 semapv:UnspecifiedMatching +OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:NUAK2 semapv:UnspecifiedMatching +OMIM:608131 NUAK2 skos:exactMatch ncbigene:81788 semapv:UnspecifiedMatching +OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:20087 semapv:UnspecifiedMatching +OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:TTC8 semapv:UnspecifiedMatching +OMIM:608132 TTC8 skos:exactMatch ncbigene:123016 semapv:UnspecifiedMatching +OMIM:608133 retinitis pigmentosa 7 skos:exactMatch MONDO:0011974 semapv:UnspecifiedMatching +OMIM:608134 PALM skos:exactMatch hgnc.symbol:8594 semapv:UnspecifiedMatching +OMIM:608134 PALM skos:exactMatch hgnc.symbol:PALM semapv:UnspecifiedMatching +OMIM:608134 PALM skos:exactMatch ncbigene:5064 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch UMLS:C1423015 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch UMLS:C2675551 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch UMLS:C2675609 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch hgnc.symbol:14872 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch hgnc.symbol:ASPN semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch ncbigene:54829 semapv:UnspecifiedMatching +OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:14103 semapv:UnspecifiedMatching +OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:ARHGEF10 semapv:UnspecifiedMatching +OMIM:608136 ARHGEF10 skos:exactMatch ncbigene:9639 semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch UMLS:C1428897 semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch UMLS:C4017142 semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch UMLS:C4017143 semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch hgnc.symbol:29843 semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch hgnc.symbol:NSMF semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch ncbigene:26012 semapv:UnspecifiedMatching +OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:8767 semapv:UnspecifiedMatching +OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:PDCD7 semapv:UnspecifiedMatching +OMIM:608138 PDCD7 skos:exactMatch ncbigene:10081 semapv:UnspecifiedMatching +OMIM:608139 CENPV skos:exactMatch hgnc.symbol:29920 semapv:UnspecifiedMatching +OMIM:608139 CENPV skos:exactMatch hgnc.symbol:CENPV semapv:UnspecifiedMatching +OMIM:608139 CENPV skos:exactMatch ncbigene:201161 semapv:UnspecifiedMatching +OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:29797 semapv:UnspecifiedMatching +OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:NUP35 semapv:UnspecifiedMatching +OMIM:608140 NUP35 skos:exactMatch ncbigene:129401 semapv:UnspecifiedMatching +OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:21182 semapv:UnspecifiedMatching +OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:NUP43 semapv:UnspecifiedMatching +OMIM:608141 NUP43 skos:exactMatch ncbigene:348995 semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch UMLS:C1825526 semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch hgnc.symbol:28913 semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch hgnc.symbol:HSCB semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch ncbigene:150274 semapv:UnspecifiedMatching +OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:20880 semapv:UnspecifiedMatching +OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:GPAT4 semapv:UnspecifiedMatching +OMIM:608143 AGPAT6 skos:exactMatch ncbigene:137964 semapv:UnspecifiedMatching +OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:17257 semapv:UnspecifiedMatching +OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:SPDEF semapv:UnspecifiedMatching +OMIM:608144 SPDEF skos:exactMatch ncbigene:25803 semapv:UnspecifiedMatching +OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:17043 semapv:UnspecifiedMatching +OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:NIPA1 semapv:UnspecifiedMatching +OMIM:608145 NIPA1 skos:exactMatch ncbigene:123606 semapv:UnspecifiedMatching +OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:17044 semapv:UnspecifiedMatching +OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:NIPA2 semapv:UnspecifiedMatching +OMIM:608146 NIPA2 skos:exactMatch ncbigene:81614 semapv:UnspecifiedMatching +OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:18600 semapv:UnspecifiedMatching +OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:TUBGCP5 semapv:UnspecifiedMatching +OMIM:608147 TUBGCP5 skos:exactMatch ncbigene:114791 semapv:UnspecifiedMatching +OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:21637 semapv:UnspecifiedMatching +OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:SATB2 semapv:UnspecifiedMatching +OMIM:608148 SATB2 skos:exactMatch ncbigene:23314 semapv:UnspecifiedMatching +OMIM:608149 kagami-ogata syndrome skos:exactMatch MONDO:0011975 semapv:UnspecifiedMatching +OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:19369 semapv:UnspecifiedMatching +OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:PPHLN1 semapv:UnspecifiedMatching +OMIM:608150 PPHLN1 skos:exactMatch ncbigene:51535 semapv:UnspecifiedMatching +OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:18340 semapv:UnspecifiedMatching +OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:WDR19 semapv:UnspecifiedMatching +OMIM:608151 WDR19 skos:exactMatch ncbigene:57728 semapv:UnspecifiedMatching +OMIM:608152 PTGES2 skos:exactMatch hgnc.symbol:17822 semapv:UnspecifiedMatching +OMIM:608152 PTGES2 skos:exactMatch hgnc.symbol:PTGES2 semapv:UnspecifiedMatching +OMIM:608152 PTGES2 skos:exactMatch ncbigene:80142 semapv:UnspecifiedMatching +OMIM:608153 PPP1R14A skos:exactMatch hgnc.symbol:14871 semapv:UnspecifiedMatching +OMIM:608153 PPP1R14A skos:exactMatch hgnc.symbol:PPP1R14A semapv:UnspecifiedMatching +OMIM:608153 PPP1R14A skos:exactMatch ncbigene:94274 semapv:UnspecifiedMatching +OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones skos:exactMatch MONDO:0011976 semapv:UnspecifiedMatching +OMIM:608155 SYNPO skos:exactMatch hgnc.symbol:30672 semapv:UnspecifiedMatching +OMIM:608155 SYNPO skos:exactMatch hgnc.symbol:SYNPO semapv:UnspecifiedMatching +OMIM:608155 SYNPO skos:exactMatch ncbigene:11346 semapv:UnspecifiedMatching +OMIM:608156 nablus mask-like facial syndrome skos:exactMatch MONDO:0011977 semapv:UnspecifiedMatching +OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:22921 semapv:UnspecifiedMatching +OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:SLC25A2 semapv:UnspecifiedMatching +OMIM:608157 SLC25A2 skos:exactMatch ncbigene:83884 semapv:UnspecifiedMatching +OMIM:608158 coq-responsive oxphos deficiency skos:exactMatch MONDO:0011978 semapv:UnspecifiedMatching +OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:9485 semapv:UnspecifiedMatching +OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:PRSS21 semapv:UnspecifiedMatching +OMIM:608159 PRSS21 skos:exactMatch ncbigene:10942 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1420331 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1842462 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1861922 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C1861923 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C2749215 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C3549544 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C4225331 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C4723824 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C4747386 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch UMLS:C4747387 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:11204 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:SOX9 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch ncbigene:6662 semapv:UnspecifiedMatching +OMIM:608161 macular dystrophy, vitelliform, 3 skos:exactMatch MONDO:0024561 semapv:UnspecifiedMatching +OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:28873 semapv:UnspecifiedMatching +OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:VTCN1 semapv:UnspecifiedMatching +OMIM:608162 VTCN1 skos:exactMatch ncbigene:79679 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch UMLS:C1427993 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:23214 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:EXOC7 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch ncbigene:23265 semapv:UnspecifiedMatching +OMIM:608164 KCNV1 skos:exactMatch hgnc.symbol:18861 semapv:UnspecifiedMatching +OMIM:608164 KCNV1 skos:exactMatch hgnc.symbol:KCNV1 semapv:UnspecifiedMatching +OMIM:608164 KCNV1 skos:exactMatch ncbigene:27012 semapv:UnspecifiedMatching +OMIM:608165 GULP1 skos:exactMatch hgnc.symbol:18649 semapv:UnspecifiedMatching +OMIM:608165 GULP1 skos:exactMatch hgnc.symbol:GULP1 semapv:UnspecifiedMatching +OMIM:608165 GULP1 skos:exactMatch ncbigene:51454 semapv:UnspecifiedMatching +OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:10727 semapv:UnspecifiedMatching +OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:SEMA3E semapv:UnspecifiedMatching +OMIM:608166 SEMA3E skos:exactMatch ncbigene:9723 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch UMLS:C1425836 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554306 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:18865 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:KCNT1 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch ncbigene:57582 semapv:UnspecifiedMatching +OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:18862 semapv:UnspecifiedMatching +OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:KCNH6 semapv:UnspecifiedMatching +OMIM:608168 KCNH6 skos:exactMatch ncbigene:81033 semapv:UnspecifiedMatching +OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:18863 semapv:UnspecifiedMatching +OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:KCNH7 semapv:UnspecifiedMatching +OMIM:608169 KCNH7 skos:exactMatch ncbigene:90134 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch UMLS:C1425698 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch UMLS:C4225520 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:18674 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:DDX41 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch ncbigene:51428 semapv:UnspecifiedMatching +OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:20202 semapv:UnspecifiedMatching +OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:CACNA2D4 semapv:UnspecifiedMatching +OMIM:608171 CACNA2D4 skos:exactMatch ncbigene:93589 semapv:UnspecifiedMatching +OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:20603 semapv:UnspecifiedMatching +OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:DHDDS semapv:UnspecifiedMatching +OMIM:608172 DHDDS skos:exactMatch ncbigene:79947 semapv:UnspecifiedMatching +OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch MONDO:0011980 semapv:UnspecifiedMatching +OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch MONDO:0011981 semapv:UnspecifiedMatching +OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch MONDO:0011982 semapv:UnspecifiedMatching +OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch MONDO:0011983 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch UMLS:C0694878 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch UMLS:C4017146 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:3512 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:EXT1 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch ncbigene:2131 semapv:UnspecifiedMatching +OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:23206 semapv:UnspecifiedMatching +OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:LUZP2 semapv:UnspecifiedMatching +OMIM:608178 LUZP2 skos:exactMatch ncbigene:338645 semapv:UnspecifiedMatching +OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:779 semapv:UnspecifiedMatching +OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:ATCAY semapv:UnspecifiedMatching +OMIM:608179 ATCAY skos:exactMatch ncbigene:85300 semapv:UnspecifiedMatching +OMIM:608180 synpolydactyly 2 skos:exactMatch MONDO:0011984 semapv:UnspecifiedMatching +OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:20373 semapv:UnspecifiedMatching +OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:SPG21 semapv:UnspecifiedMatching +OMIM:608181 ACP33 skos:exactMatch ncbigene:51324 semapv:UnspecifiedMatching +OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:30083 semapv:UnspecifiedMatching +OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:KCNIP4 semapv:UnspecifiedMatching +OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch ncbigene:80333 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch UMLS:C1424814 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch UMLS:C1854466 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:17198 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:CHSY1 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch ncbigene:22856 semapv:UnspecifiedMatching +OMIM:608184 immunodeficiency with hyper-igm, iia 4 skos:exactMatch MONDO:0011985 semapv:UnspecifiedMatching +OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:30389 semapv:UnspecifiedMatching +OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:EXOC4 semapv:UnspecifiedMatching +OMIM:608185 EXOC4 skos:exactMatch ncbigene:60412 semapv:UnspecifiedMatching +OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:30378 semapv:UnspecifiedMatching +OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:EXOC3 semapv:UnspecifiedMatching +OMIM:608186 EXOC3 skos:exactMatch ncbigene:11336 semapv:UnspecifiedMatching +OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:16147 semapv:UnspecifiedMatching +OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:MCM8 semapv:UnspecifiedMatching +OMIM:608187 MCM8 skos:exactMatch ncbigene:84515 semapv:UnspecifiedMatching +OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:16148 semapv:UnspecifiedMatching +OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:CRLS1 semapv:UnspecifiedMatching +OMIM:608188 CRLS1 skos:exactMatch ncbigene:54675 semapv:UnspecifiedMatching +OMIM:608189 tropical calcific pancreatitis skos:exactMatch MONDO:0011986 semapv:UnspecifiedMatching +OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:30235 semapv:UnspecifiedMatching +OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:NAT8B semapv:UnspecifiedMatching +OMIM:608190 NAT8B skos:exactMatch ncbigene:51471 semapv:UnspecifiedMatching +OMIM:608191 RBAK skos:exactMatch UMLS:C1826772 semapv:UnspecifiedMatching +OMIM:608191 RBAK skos:exactMatch hgnc.symbol:17680 semapv:UnspecifiedMatching +OMIM:608191 RBAK skos:exactMatch hgnc.symbol:RBAK semapv:UnspecifiedMatching +OMIM:608191 RBAK skos:exactMatch ncbigene:57786 semapv:UnspecifiedMatching +OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:19285 semapv:UnspecifiedMatching +OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:SCYL3 semapv:UnspecifiedMatching +OMIM:608192 SCYL3 skos:exactMatch ncbigene:57147 semapv:UnspecifiedMatching +OMIM:608193 REC8 skos:exactMatch hgnc.symbol:16879 semapv:UnspecifiedMatching +OMIM:608193 REC8 skos:exactMatch hgnc.symbol:REC8 semapv:UnspecifiedMatching +OMIM:608193 REC8 skos:exactMatch ncbigene:9985 semapv:UnspecifiedMatching +OMIM:608194 cone-rod dystrophy 13 skos:exactMatch MONDO:0011987 semapv:UnspecifiedMatching +OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:14307 semapv:UnspecifiedMatching +OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:LRRC1 semapv:UnspecifiedMatching +OMIM:608195 LRRC1 skos:exactMatch ncbigene:55227 semapv:UnspecifiedMatching +OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:20876 semapv:UnspecifiedMatching +OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:WRNIP1 semapv:UnspecifiedMatching +OMIM:608196 WRNIP1 skos:exactMatch ncbigene:56897 semapv:UnspecifiedMatching +OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:30014 semapv:UnspecifiedMatching +OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:PGLYRP3 semapv:UnspecifiedMatching +OMIM:608197 PGLYRP3 skos:exactMatch ncbigene:114771 semapv:UnspecifiedMatching +OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:30015 semapv:UnspecifiedMatching +OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:PGLYRP4 semapv:UnspecifiedMatching +OMIM:608198 PGLYRP4 skos:exactMatch ncbigene:57115 semapv:UnspecifiedMatching +OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:30013 semapv:UnspecifiedMatching +OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:PGLYRP2 semapv:UnspecifiedMatching +OMIM:608199 PGLYRP2 skos:exactMatch ncbigene:114770 semapv:UnspecifiedMatching +OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:15880 semapv:UnspecifiedMatching +OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:CDK5RAP1 semapv:UnspecifiedMatching +OMIM:608200 CDK5RAP1 skos:exactMatch ncbigene:51654 semapv:UnspecifiedMatching +OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:18672 semapv:UnspecifiedMatching +OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:CDK5RAP2 semapv:UnspecifiedMatching +OMIM:608201 CDK5RAP2 skos:exactMatch ncbigene:55755 semapv:UnspecifiedMatching +OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:18673 semapv:UnspecifiedMatching +OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:CDK5RAP3 semapv:UnspecifiedMatching +OMIM:608202 CDK5RAP3 skos:exactMatch ncbigene:80279 semapv:UnspecifiedMatching +OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch MONDO:0011988 semapv:UnspecifiedMatching +OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching +OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch UMLS:C1422014 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch UMLS:C2750180 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:13481 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:UNC93B1 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch ncbigene:81622 semapv:UnspecifiedMatching +OMIM:608205 MECR skos:exactMatch hgnc.symbol:19691 semapv:UnspecifiedMatching +OMIM:608205 MECR skos:exactMatch hgnc.symbol:MECR semapv:UnspecifiedMatching +OMIM:608205 MECR skos:exactMatch ncbigene:51102 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1539765 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:29427 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:SH3TC2 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch ncbigene:79628 semapv:UnspecifiedMatching +OMIM:608207 kala-azar, susceptibility to, 1 skos:exactMatch MONDO:0021012 semapv:UnspecifiedMatching +OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:29269 semapv:UnspecifiedMatching +OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:MARCHF4 semapv:UnspecifiedMatching +OMIM:608208 MARCHF4 skos:exactMatch ncbigene:57574 semapv:UnspecifiedMatching +OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:20823 semapv:UnspecifiedMatching +OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:DPP10 semapv:UnspecifiedMatching +OMIM:608209 DPP10 skos:exactMatch ncbigene:57628 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch UMLS:C0694879 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch UMLS:C4225248 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch UMLS:C5193209 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:3513 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:EXT2 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch ncbigene:2132 semapv:UnspecifiedMatching +OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:21031 semapv:UnspecifiedMatching +OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:KAAG1 semapv:UnspecifiedMatching +OMIM:608211 KAAG1 skos:exactMatch ncbigene:353219 semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch UMLS:C1537424 semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch UMLS:C2677079 semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch hgnc.symbol:29597 semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch hgnc.symbol:IRGM semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch ncbigene:345611 semapv:UnspecifiedMatching +OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:24153 semapv:UnspecifiedMatching +OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:CEND1 semapv:UnspecifiedMatching +OMIM:608213 CEND1 skos:exactMatch ncbigene:51286 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C1427065 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C2751088 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C4013699 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch UMLS:C4017659 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:20665 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:SCN3B semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch ncbigene:55800 semapv:UnspecifiedMatching +OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:21735 semapv:UnspecifiedMatching +OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:LHX6 semapv:UnspecifiedMatching +OMIM:608215 LHX6 skos:exactMatch ncbigene:26468 semapv:UnspecifiedMatching +OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:17902 semapv:UnspecifiedMatching +OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:COMMD5 semapv:UnspecifiedMatching +OMIM:608216 COMMD5 skos:exactMatch ncbigene:28991 semapv:UnspecifiedMatching +OMIM:608217 seizures, benign familial neonatal, 3 skos:exactMatch MONDO:0011990 semapv:UnspecifiedMatching +OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:20412 semapv:UnspecifiedMatching +OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:KRT20 semapv:UnspecifiedMatching +OMIM:608218 KRT20 skos:exactMatch ncbigene:54474 semapv:UnspecifiedMatching +OMIM:608219 deafness, autosomal recessive 38 skos:exactMatch MONDO:0011991 semapv:UnspecifiedMatching +OMIM:608220 spastic paraplegia 25, autosomal recessive skos:exactMatch MONDO:0011992 semapv:UnspecifiedMatching +OMIM:608221 MASTL skos:exactMatch hgnc.symbol:19042 semapv:UnspecifiedMatching +OMIM:608221 MASTL skos:exactMatch hgnc.symbol:MASTL semapv:UnspecifiedMatching +OMIM:608221 MASTL skos:exactMatch ncbigene:84930 semapv:UnspecifiedMatching +OMIM:608222 ADSL skos:exactMatch hgnc.symbol:291 semapv:UnspecifiedMatching +OMIM:608222 ADSL skos:exactMatch hgnc.symbol:ADSL semapv:UnspecifiedMatching +OMIM:608222 ADSL skos:exactMatch ncbigene:158 semapv:UnspecifiedMatching +OMIM:608223 aspirin resistance skos:exactMatch MONDO:0011993 semapv:UnspecifiedMatching +OMIM:608224 deafness, autosomal dominant 41 skos:exactMatch MONDO:0011994 semapv:UnspecifiedMatching +OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:22946 semapv:UnspecifiedMatching +OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:GALNT14 semapv:UnspecifiedMatching +OMIM:608225 GALNT14 skos:exactMatch ncbigene:79623 semapv:UnspecifiedMatching +OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:23044 semapv:UnspecifiedMatching +OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:NANOS1 semapv:UnspecifiedMatching +OMIM:608226 NANOS1 skos:exactMatch ncbigene:340719 semapv:UnspecifiedMatching +OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation skos:exactMatch MONDO:0011995 semapv:UnspecifiedMatching +OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:23292 semapv:UnspecifiedMatching +OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:NANOS2 semapv:UnspecifiedMatching +OMIM:608228 NANOS2 skos:exactMatch ncbigene:339345 semapv:UnspecifiedMatching +OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:22048 semapv:UnspecifiedMatching +OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:NANOS3 semapv:UnspecifiedMatching +OMIM:608229 NANOS3 skos:exactMatch ncbigene:342977 semapv:UnspecifiedMatching +OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:1396 semapv:UnspecifiedMatching +OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:CACNA1I semapv:UnspecifiedMatching +OMIM:608230 CACNA1I skos:exactMatch ncbigene:8911 semapv:UnspecifiedMatching +OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:13232 semapv:UnspecifiedMatching +OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:RASSF8 semapv:UnspecifiedMatching +OMIM:608231 RASSF8 skos:exactMatch ncbigene:11228 semapv:UnspecifiedMatching +OMIM:608232 leukemia, chronic myeloid skos:exactMatch MONDO:0011996 semapv:UnspecifiedMatching +OMIM:608233 hermansky-pudlak syndrome 2 skos:exactMatch MONDO:0011997 semapv:UnspecifiedMatching +OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:24144 semapv:UnspecifiedMatching +OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:GAL3ST3 semapv:UnspecifiedMatching +OMIM:608234 GAL3ST3 skos:exactMatch ncbigene:89792 semapv:UnspecifiedMatching +OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:24145 semapv:UnspecifiedMatching +OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:GAL3ST4 semapv:UnspecifiedMatching +OMIM:608235 GAL3ST4 skos:exactMatch ncbigene:79690 semapv:UnspecifiedMatching +OMIM:608236 slowed nerve conduction velocity, autosomal dominant skos:exactMatch MONDO:0011998 semapv:UnspecifiedMatching +OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:24869 semapv:UnspecifiedMatching +OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:GAL3ST2 semapv:UnspecifiedMatching +OMIM:608237 GAL3ST2 skos:exactMatch ncbigene:64090 semapv:UnspecifiedMatching +OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:30227 semapv:UnspecifiedMatching +OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:SPPL2A semapv:UnspecifiedMatching +OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching +OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching +OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching +OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:30424 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:SPPL3 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch ncbigene:121665 semapv:UnspecifiedMatching +OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:30587 semapv:UnspecifiedMatching +OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:SNIP1 semapv:UnspecifiedMatching +OMIM:608241 SNIP1 skos:exactMatch ncbigene:79753 semapv:UnspecifiedMatching +OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:24368 semapv:UnspecifiedMatching +OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:HERC5 semapv:UnspecifiedMatching +OMIM:608242 HERC5 skos:exactMatch ncbigene:51191 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch UMLS:C1417615 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:7677 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:NSMCE3 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch ncbigene:56160 semapv:UnspecifiedMatching +OMIM:608244 otosclerosis 3 skos:exactMatch MONDO:0011999 semapv:UnspecifiedMatching +OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:28927 semapv:UnspecifiedMatching +OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:KRT71 semapv:UnspecifiedMatching +OMIM:608245 KRT71 skos:exactMatch ncbigene:112802 semapv:UnspecifiedMatching +OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:28932 semapv:UnspecifiedMatching +OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:KRT72 semapv:UnspecifiedMatching +OMIM:608246 KRT72 skos:exactMatch ncbigene:140807 semapv:UnspecifiedMatching +OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:28928 semapv:UnspecifiedMatching +OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:KRT73 semapv:UnspecifiedMatching +OMIM:608247 KRT73 skos:exactMatch ncbigene:319101 semapv:UnspecifiedMatching +OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:28929 semapv:UnspecifiedMatching +OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:KRT74 semapv:UnspecifiedMatching +OMIM:608248 KRT74 skos:exactMatch ncbigene:121391 semapv:UnspecifiedMatching +OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:19437 semapv:UnspecifiedMatching +OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:CCNB1IP1 semapv:UnspecifiedMatching +OMIM:608249 CCNB1IP1 skos:exactMatch ncbigene:57820 semapv:UnspecifiedMatching +OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:29545 semapv:UnspecifiedMatching +OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:SUDS3 semapv:UnspecifiedMatching +OMIM:608250 SUDS3 skos:exactMatch ncbigene:64426 semapv:UnspecifiedMatching +OMIM:608251 phobia, specific skos:exactMatch MONDO:0012000 semapv:UnspecifiedMatching +OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:24017 semapv:UnspecifiedMatching +OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:AFAP1 semapv:UnspecifiedMatching +OMIM:608252 AFAP1 skos:exactMatch ncbigene:60312 semapv:UnspecifiedMatching +OMIM:608253 TSKS skos:exactMatch hgnc.symbol:30719 semapv:UnspecifiedMatching +OMIM:608253 TSKS skos:exactMatch hgnc.symbol:TSKS semapv:UnspecifiedMatching +OMIM:608253 TSKS skos:exactMatch ncbigene:60385 semapv:UnspecifiedMatching +OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:8624 semapv:UnspecifiedMatching +OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:PAXIP1 semapv:UnspecifiedMatching +OMIM:608254 PAXIP1 skos:exactMatch ncbigene:22976 semapv:UnspecifiedMatching +OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:30766 semapv:UnspecifiedMatching +OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:TRAF3IP3 semapv:UnspecifiedMatching +OMIM:608255 TRAF3IP3 skos:exactMatch ncbigene:80342 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch UMLS:C1419863 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch UMLS:C4013560 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:10592 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:SCN4B semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch ncbigene:6330 semapv:UnspecifiedMatching +OMIM:608257 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch MONDO:0012001 semapv:UnspecifiedMatching +OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:18648 semapv:UnspecifiedMatching +OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:DPP9 semapv:UnspecifiedMatching +OMIM:608258 DPP9 skos:exactMatch ncbigene:91039 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch UMLS:C1825578 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:28868 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:IGF2BP3 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch ncbigene:10643 semapv:UnspecifiedMatching +OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:18864 semapv:UnspecifiedMatching +OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:KCNH8 semapv:UnspecifiedMatching +OMIM:608260 KCNH8 skos:exactMatch ncbigene:131096 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch UMLS:C1427927 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:23116 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:SENP2 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch ncbigene:59343 semapv:UnspecifiedMatching +OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:17805 semapv:UnspecifiedMatching +OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:DIRC3 semapv:UnspecifiedMatching +OMIM:608262 DIRC3 skos:exactMatch ncbigene:729582 semapv:UnspecifiedMatching +OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:16389 semapv:UnspecifiedMatching +OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:HSPBAP1 semapv:UnspecifiedMatching +OMIM:608263 HSPBAP1 skos:exactMatch ncbigene:79663 semapv:UnspecifiedMatching +OMIM:608264 deafness, autosomal recessive 40 skos:exactMatch MONDO:0012002 semapv:UnspecifiedMatching +OMIM:608265 deafness, autosomal recessive 39 skos:exactMatch MONDO:0012003 semapv:UnspecifiedMatching +OMIM:608266 parathyroid carcinoma skos:exactMatch MONDO:0012004 semapv:UnspecifiedMatching +OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:19902 semapv:UnspecifiedMatching +OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:RRAGC semapv:UnspecifiedMatching +OMIM:608267 RRAGC skos:exactMatch ncbigene:64121 semapv:UnspecifiedMatching +OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:19903 semapv:UnspecifiedMatching +OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:RRAGD semapv:UnspecifiedMatching +OMIM:608268 RRAGD skos:exactMatch ncbigene:58528 semapv:UnspecifiedMatching +OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:16484 semapv:UnspecifiedMatching +OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:SLC28A3 semapv:UnspecifiedMatching +OMIM:608269 SLC28A3 skos:exactMatch ncbigene:64078 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch UMLS:C1823228 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:15859 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:TASP1 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch ncbigene:55617 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch UMLS:C1422134 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch UMLS:C5193029 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:13664 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:MACF1 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch ncbigene:23499 semapv:UnspecifiedMatching +OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:7758 semapv:UnspecifiedMatching +OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:NEU1 semapv:UnspecifiedMatching +OMIM:608272 NEU1 skos:exactMatch ncbigene:4758 semapv:UnspecifiedMatching +OMIM:608273 IL27 skos:exactMatch hgnc.symbol:19157 semapv:UnspecifiedMatching +OMIM:608273 IL27 skos:exactMatch hgnc.symbol:IL27 semapv:UnspecifiedMatching +OMIM:608273 IL27 skos:exactMatch ncbigene:246778 semapv:UnspecifiedMatching +OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:18241 semapv:UnspecifiedMatching +OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:PRMT6 semapv:UnspecifiedMatching +OMIM:608274 PRMT6 skos:exactMatch ncbigene:55170 semapv:UnspecifiedMatching +OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:20301 semapv:UnspecifiedMatching +OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:SLC22A15 semapv:UnspecifiedMatching +OMIM:608275 SLC22A15 skos:exactMatch ncbigene:55356 semapv:UnspecifiedMatching +OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:20302 semapv:UnspecifiedMatching +OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:SLC22A16 semapv:UnspecifiedMatching +OMIM:608276 SLC22A16 skos:exactMatch ncbigene:85413 semapv:UnspecifiedMatching +OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:18137 semapv:UnspecifiedMatching +OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:CHST15 semapv:UnspecifiedMatching +OMIM:608277 CHST15 skos:exactMatch ncbigene:51363 semapv:UnspecifiedMatching +OMIM:608278 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch MONDO:0012005 semapv:UnspecifiedMatching +OMIM:608279 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch MONDO:0012006 semapv:UnspecifiedMatching +OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:16355 semapv:UnspecifiedMatching +OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:GAS5 semapv:UnspecifiedMatching +OMIM:608280 GAS5 skos:exactMatch ncbigene:60674 semapv:UnspecifiedMatching +OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch MONDO:0012007 semapv:UnspecifiedMatching +OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:20977 semapv:UnspecifiedMatching +OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:TAAR9 semapv:UnspecifiedMatching +OMIM:608282 TAAR9 skos:exactMatch ncbigene:134860 semapv:UnspecifiedMatching +OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:19349 semapv:UnspecifiedMatching +OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:KIF21A semapv:UnspecifiedMatching +OMIM:608283 KIF21A skos:exactMatch ncbigene:55605 semapv:UnspecifiedMatching +OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:28902 semapv:UnspecifiedMatching +OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:SPPL2C semapv:UnspecifiedMatching +OMIM:608284 intramembrane protease 5 skos:exactMatch ncbigene:162540 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch UMLS:C1826343 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:29832 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:NADSYN1 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch ncbigene:55191 semapv:UnspecifiedMatching +OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:13404 semapv:UnspecifiedMatching +OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:PCDH10 semapv:UnspecifiedMatching +OMIM:608286 PCDH10 skos:exactMatch ncbigene:57575 semapv:UnspecifiedMatching +OMIM:608287 PCDH18 skos:exactMatch UMLS:C1422528 semapv:UnspecifiedMatching +OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:14268 semapv:UnspecifiedMatching +OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:PCDH18 semapv:UnspecifiedMatching +OMIM:608287 PCDH18 skos:exactMatch ncbigene:54510 semapv:UnspecifiedMatching +OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:28866 semapv:UnspecifiedMatching +OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:IGF2BP1 semapv:UnspecifiedMatching +OMIM:608288 IGF2BP1 skos:exactMatch ncbigene:10642 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C1825577 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:28867 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:IGF2BP2 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch ncbigene:10644 semapv:UnspecifiedMatching +OMIM:608290 lelis syndrome skos:exactMatch MONDO:0012008 semapv:UnspecifiedMatching +OMIM:608291 TTL skos:exactMatch hgnc.symbol:21586 semapv:UnspecifiedMatching +OMIM:608291 TTL skos:exactMatch hgnc.symbol:TTL semapv:UnspecifiedMatching +OMIM:608291 TTL skos:exactMatch ncbigene:150465 semapv:UnspecifiedMatching +OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:14559 semapv:UnspecifiedMatching +OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:STOML2 semapv:UnspecifiedMatching +OMIM:608292 STOML2 skos:exactMatch ncbigene:30968 semapv:UnspecifiedMatching +OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:18239 semapv:UnspecifiedMatching +OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:ARHGAP17 semapv:UnspecifiedMatching +OMIM:608293 ARHGAP17 skos:exactMatch ncbigene:55114 semapv:UnspecifiedMatching +OMIM:608294 NME6 skos:exactMatch hgnc.symbol:20567 semapv:UnspecifiedMatching +OMIM:608294 NME6 skos:exactMatch hgnc.symbol:NME6 semapv:UnspecifiedMatching +OMIM:608294 NME6 skos:exactMatch ncbigene:10201 semapv:UnspecifiedMatching +OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:30827 semapv:UnspecifiedMatching +OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:FAM107A semapv:UnspecifiedMatching +OMIM:608295 FAM107A skos:exactMatch ncbigene:11170 semapv:UnspecifiedMatching +OMIM:608296 FIBP skos:exactMatch hgnc.symbol:3705 semapv:UnspecifiedMatching +OMIM:608296 FIBP skos:exactMatch hgnc.symbol:FIBP semapv:UnspecifiedMatching +OMIM:608296 FIBP skos:exactMatch ncbigene:9158 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch UMLS:C1824605 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:30649 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:CCDC80 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch ncbigene:151887 semapv:UnspecifiedMatching +OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:17297 semapv:UnspecifiedMatching +OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:RNF34 semapv:UnspecifiedMatching +OMIM:608299 RNF34 skos:exactMatch ncbigene:80196 semapv:UnspecifiedMatching +OMIM:608300 NAGS skos:exactMatch hgnc.symbol:17996 semapv:UnspecifiedMatching +OMIM:608300 NAGS skos:exactMatch hgnc.symbol:NAGS semapv:UnspecifiedMatching +OMIM:608300 NAGS skos:exactMatch ncbigene:162417 semapv:UnspecifiedMatching +OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:18710 semapv:UnspecifiedMatching +OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:LGI2 semapv:UnspecifiedMatching +OMIM:608301 LGI2 skos:exactMatch ncbigene:55203 semapv:UnspecifiedMatching +OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:18711 semapv:UnspecifiedMatching +OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:LGI3 semapv:UnspecifiedMatching +OMIM:608302 LGI3 skos:exactMatch ncbigene:203190 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch UMLS:C1425731 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:18712 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:LGI4 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch ncbigene:163175 semapv:UnspecifiedMatching +OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:21622 semapv:UnspecifiedMatching +OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:CAGE1 semapv:UnspecifiedMatching +OMIM:608304 CTAG3 skos:exactMatch ncbigene:285782 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch UMLS:C1427906 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:23089 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:SLC13A5 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch ncbigene:284111 semapv:UnspecifiedMatching +OMIM:608306 SP8 skos:exactMatch hgnc.symbol:19196 semapv:UnspecifiedMatching +OMIM:608306 SP8 skos:exactMatch hgnc.symbol:SP8 semapv:UnspecifiedMatching +OMIM:608306 SP8 skos:exactMatch ncbigene:221833 semapv:UnspecifiedMatching +OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:2323 semapv:UnspecifiedMatching +OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:CPS1 semapv:UnspecifiedMatching +OMIM:608307 CPS1 skos:exactMatch ncbigene:1373 semapv:UnspecifiedMatching +OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:18275 semapv:UnspecifiedMatching +OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:ABTB1 semapv:UnspecifiedMatching +OMIM:608308 ABTB1 skos:exactMatch ncbigene:80325 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch UMLS:C1422771 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch UMLS:C1853833 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch UMLS:C1970035 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:14581 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:PINK1 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch ncbigene:65018 semapv:UnspecifiedMatching +OMIM:608310 ASL skos:exactMatch hgnc.symbol:746 semapv:UnspecifiedMatching +OMIM:608310 ASL skos:exactMatch hgnc.symbol:ASL semapv:UnspecifiedMatching +OMIM:608310 ASL skos:exactMatch ncbigene:435 semapv:UnspecifiedMatching +OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:15712 semapv:UnspecifiedMatching +OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:POLR2MP1 semapv:UnspecifiedMatching +OMIM:608311 GRINL1B skos:exactMatch ncbigene:339970 semapv:UnspecifiedMatching +OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:18027 semapv:UnspecifiedMatching +OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:POLR1F semapv:UnspecifiedMatching +OMIM:608312 POLR1F skos:exactMatch ncbigene:221830 semapv:UnspecifiedMatching +OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:663 semapv:UnspecifiedMatching +OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:ARG1 semapv:UnspecifiedMatching +OMIM:608313 ARG1 skos:exactMatch ncbigene:383 semapv:UnspecifiedMatching +OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:10750 semapv:UnspecifiedMatching +OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:SEPTIN3 semapv:UnspecifiedMatching +OMIM:608314 SEPT3 skos:exactMatch ncbigene:55964 semapv:UnspecifiedMatching +OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:20907 semapv:UnspecifiedMatching +OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:EAF1 semapv:UnspecifiedMatching +OMIM:608315 EAF1 skos:exactMatch ncbigene:85403 semapv:UnspecifiedMatching +OMIM:608316 coronary heart disease, susceptibility to, 2 skos:exactMatch MONDO:0012009 semapv:UnspecifiedMatching +OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:25839 semapv:UnspecifiedMatching +OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:GRHL3 semapv:UnspecifiedMatching +OMIM:608317 GRHL3 skos:exactMatch ncbigene:57822 semapv:UnspecifiedMatching +OMIM:608318 coronary heart disease, susceptibility to, 4 skos:exactMatch MONDO:0012010 semapv:UnspecifiedMatching +OMIM:608320 coronary artery disease, autosomal dominant, 1 skos:exactMatch MONDO:0012011 semapv:UnspecifiedMatching +OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:21354 semapv:UnspecifiedMatching +OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:TICAM2 semapv:UnspecifiedMatching +OMIM:608321 TICAM2 skos:exactMatch ncbigene:353376 semapv:UnspecifiedMatching +OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:29442 semapv:UnspecifiedMatching +OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:KIF21B semapv:UnspecifiedMatching +OMIM:608322 KIF21B skos:exactMatch ncbigene:23046 semapv:UnspecifiedMatching +OMIM:608323 charcot-marie-tooth disease, dominant intermediate c skos:exactMatch MONDO:0012012 semapv:UnspecifiedMatching +OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:30248 semapv:UnspecifiedMatching +OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:SMIM3 semapv:UnspecifiedMatching +OMIM:608324 SMIM3 skos:exactMatch ncbigene:85027 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C1538635 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C5231537 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch UMLS:C5231538 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:24156 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:PHF21A semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch ncbigene:51317 semapv:UnspecifiedMatching +OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:14560 semapv:UnspecifiedMatching +OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:STOML1 semapv:UnspecifiedMatching +OMIM:608326 STOML1 skos:exactMatch ncbigene:9399 semapv:UnspecifiedMatching +OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:19420 semapv:UnspecifiedMatching +OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:STOML3 semapv:UnspecifiedMatching +OMIM:608327 STOML3 skos:exactMatch ncbigene:161003 semapv:UnspecifiedMatching +OMIM:608328 weill-marchesani syndrome 2 skos:exactMatch MONDO:0012013 semapv:UnspecifiedMatching +OMIM:608329 MYRF skos:exactMatch hgnc.symbol:1181 semapv:UnspecifiedMatching +OMIM:608329 MYRF skos:exactMatch hgnc.symbol:MYRF semapv:UnspecifiedMatching +OMIM:608329 MYRF skos:exactMatch ncbigene:745 semapv:UnspecifiedMatching +OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:17896 semapv:UnspecifiedMatching +OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:PRPF19 semapv:UnspecifiedMatching +OMIM:608330 PRPF19 skos:exactMatch ncbigene:27339 semapv:UnspecifiedMatching +OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:18762 semapv:UnspecifiedMatching +OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:SLC36A2 semapv:UnspecifiedMatching +OMIM:608331 SLC36A2 skos:exactMatch ncbigene:153201 semapv:UnspecifiedMatching +OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:19659 semapv:UnspecifiedMatching +OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:SLC36A3 semapv:UnspecifiedMatching +OMIM:608332 SLC36A3 skos:exactMatch ncbigene:285641 semapv:UnspecifiedMatching +OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:19868 semapv:UnspecifiedMatching +OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:DOK4 semapv:UnspecifiedMatching +OMIM:608333 DOK4 skos:exactMatch ncbigene:55715 semapv:UnspecifiedMatching +OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:16173 semapv:UnspecifiedMatching +OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:DOK5 semapv:UnspecifiedMatching +OMIM:608334 DOK5 skos:exactMatch ncbigene:55816 semapv:UnspecifiedMatching +OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:24310 semapv:UnspecifiedMatching +OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:PLEKHO1 semapv:UnspecifiedMatching +OMIM:608335 PLEKHO1 skos:exactMatch ncbigene:51177 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch UMLS:C1539611 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:30413 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:TPRA1 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch ncbigene:131601 semapv:UnspecifiedMatching +OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:23077 semapv:UnspecifiedMatching +OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:OTUB1 semapv:UnspecifiedMatching +OMIM:608337 OTUB1 skos:exactMatch ncbigene:55611 semapv:UnspecifiedMatching +OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:20351 semapv:UnspecifiedMatching +OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:OTUB2 semapv:UnspecifiedMatching +OMIM:608338 OTUB2 skos:exactMatch ncbigene:78990 semapv:UnspecifiedMatching +OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:11446 semapv:UnspecifiedMatching +OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:STXBP3 semapv:UnspecifiedMatching +OMIM:608339 STXBP3 skos:exactMatch ncbigene:6814 semapv:UnspecifiedMatching +OMIM:608340 charcot-marie-tooth disease, recessive intermediate a skos:exactMatch MONDO:0012014 semapv:UnspecifiedMatching +OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:13397 semapv:UnspecifiedMatching +OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:CYB5R1 semapv:UnspecifiedMatching +OMIM:608341 CYB5R1 skos:exactMatch ncbigene:51706 semapv:UnspecifiedMatching +OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:24376 semapv:UnspecifiedMatching +OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:CYB5R2 semapv:UnspecifiedMatching +OMIM:608342 CYB5R2 skos:exactMatch ncbigene:51700 semapv:UnspecifiedMatching +OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:20147 semapv:UnspecifiedMatching +OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:CYB5R4 semapv:UnspecifiedMatching +OMIM:608343 CYB5R4 skos:exactMatch ncbigene:51167 semapv:UnspecifiedMatching +OMIM:608344 HSPB9 skos:exactMatch UMLS:C1537389 semapv:UnspecifiedMatching +OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:30589 semapv:UnspecifiedMatching +OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:HSPB9 semapv:UnspecifiedMatching +OMIM:608344 HSPB9 skos:exactMatch ncbigene:94086 semapv:UnspecifiedMatching +OMIM:608345 nystagmus 3, congenital, autosomal dominant skos:exactMatch MONDO:0012015 semapv:UnspecifiedMatching +OMIM:608347 DCXR skos:exactMatch hgnc.symbol:18985 semapv:UnspecifiedMatching +OMIM:608347 DCXR skos:exactMatch hgnc.symbol:DCXR semapv:UnspecifiedMatching +OMIM:608347 DCXR skos:exactMatch ncbigene:51181 semapv:UnspecifiedMatching +OMIM:608348 BCKDHA skos:exactMatch hgnc.symbol:986 semapv:UnspecifiedMatching +OMIM:608348 BCKDHA skos:exactMatch hgnc.symbol:BCKDHA semapv:UnspecifiedMatching +OMIM:608348 BCKDHA skos:exactMatch ncbigene:593 semapv:UnspecifiedMatching +OMIM:608349 HSH2D skos:exactMatch hgnc.symbol:24920 semapv:UnspecifiedMatching +OMIM:608349 HSH2D skos:exactMatch hgnc.symbol:HSH2D semapv:UnspecifiedMatching +OMIM:608349 HSH2D skos:exactMatch ncbigene:84941 semapv:UnspecifiedMatching +OMIM:608350 EMCN skos:exactMatch hgnc.symbol:16041 semapv:UnspecifiedMatching +OMIM:608350 EMCN skos:exactMatch hgnc.symbol:EMCN semapv:UnspecifiedMatching +OMIM:608350 EMCN skos:exactMatch ncbigene:51705 semapv:UnspecifiedMatching +OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:16669 semapv:UnspecifiedMatching +OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:IGSF11 semapv:UnspecifiedMatching +OMIM:608351 IGSF11 skos:exactMatch ncbigene:152404 semapv:UnspecifiedMatching +OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:17195 semapv:UnspecifiedMatching +OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:ACRBP semapv:UnspecifiedMatching +OMIM:608352 ACRBP skos:exactMatch ncbigene:84519 semapv:UnspecifiedMatching +OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:29957 semapv:UnspecifiedMatching +OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:AZIN2 semapv:UnspecifiedMatching +OMIM:608353 AZIN2 skos:exactMatch ncbigene:113451 semapv:UnspecifiedMatching +OMIM:608354 capillary malformation-arteriovenous malformation 1 skos:exactMatch MONDO:0020783 semapv:UnspecifiedMatching +OMIM:608356 ODF3 skos:exactMatch hgnc.symbol:CIMAP1A semapv:UnspecifiedMatching +OMIM:608356 ODF3 skos:exactMatch ncbigene:113746 semapv:UnspecifiedMatching +OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:11457 semapv:UnspecifiedMatching +OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:SULT1C4 semapv:UnspecifiedMatching +OMIM:608357 SULT1C4 skos:exactMatch ncbigene:27233 semapv:UnspecifiedMatching +OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant skos:exactMatch MONDO:0008409 semapv:UnspecifiedMatching +OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:14903 semapv:UnspecifiedMatching +OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:SULT4A1 semapv:UnspecifiedMatching +OMIM:608359 SULT4A1 skos:exactMatch ncbigene:25830 semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch UMLS:C1825876 semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch UMLS:C4225518 semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:19027 semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:LRRC8A semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch ncbigene:56262 semapv:UnspecifiedMatching +OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia skos:exactMatch MONDO:0012019 semapv:UnspecifiedMatching +OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:15926 semapv:UnspecifiedMatching +OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:STMN3 semapv:UnspecifiedMatching +OMIM:608362 STMN3 skos:exactMatch ncbigene:50861 semapv:UnspecifiedMatching +OMIM:608363 chromosome 22q11.2 duplication syndrome skos:exactMatch MONDO:0012020 semapv:UnspecifiedMatching +OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:24636 semapv:UnspecifiedMatching +OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:LIMA1 semapv:UnspecifiedMatching +OMIM:608364 LIMA1 skos:exactMatch ncbigene:51474 semapv:UnspecifiedMatching +OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:11657 semapv:UnspecifiedMatching +OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:TCP10L semapv:UnspecifiedMatching +OMIM:608365 TCP10L skos:exactMatch ncbigene:140290 semapv:UnspecifiedMatching +OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:29213 semapv:UnspecifiedMatching +OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:CEMIP semapv:UnspecifiedMatching +OMIM:608366 CEMIP skos:exactMatch ncbigene:57214 semapv:UnspecifiedMatching +OMIM:608367 myopia 17, autosomal dominant skos:exactMatch MONDO:0012021 semapv:UnspecifiedMatching +OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:21700 semapv:UnspecifiedMatching +OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching +OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:23242 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:GALNT13 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch ncbigene:114805 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch UMLS:C1822652 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:21088 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:SCD5 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch ncbigene:79966 semapv:UnspecifiedMatching +OMIM:608371 orofacial cleft 4 skos:exactMatch MONDO:0012022 semapv:UnspecifiedMatching +OMIM:608372 deafness, autosomal dominant 49 skos:exactMatch MONDO:0012023 semapv:UnspecifiedMatching +OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:11502 semapv:UnspecifiedMatching +OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:SYNGR4 semapv:UnspecifiedMatching +OMIM:608373 SYNGR4 skos:exactMatch ncbigene:23546 semapv:UnspecifiedMatching +OMIM:608374 HJV skos:exactMatch hgnc.symbol:4887 semapv:UnspecifiedMatching +OMIM:608374 HJV skos:exactMatch hgnc.symbol:HJV semapv:UnspecifiedMatching +OMIM:608374 HJV skos:exactMatch ncbigene:148738 semapv:UnspecifiedMatching +OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:15469 semapv:UnspecifiedMatching +OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:DNAJC6 semapv:UnspecifiedMatching +OMIM:608375 DNAJC6 skos:exactMatch ncbigene:9829 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch UMLS:C1423030 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:14891 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:DNAJB12 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch ncbigene:54788 semapv:UnspecifiedMatching +OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:15852 semapv:UnspecifiedMatching +OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:ARFGAP1 semapv:UnspecifiedMatching +OMIM:608377 ARFGAP1 skos:exactMatch ncbigene:55738 semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch UMLS:C1419896 semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch hgnc.symbol:10663 semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch hgnc.symbol:NEMF semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch ncbigene:9147 semapv:UnspecifiedMatching +OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:1612 semapv:UnspecifiedMatching +OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:CCRL2 semapv:UnspecifiedMatching +OMIM:608379 CCRL2 skos:exactMatch ncbigene:9034 semapv:UnspecifiedMatching +OMIM:608380 retinitis pigmentosa 26 skos:exactMatch MONDO:0012024 semapv:UnspecifiedMatching +OMIM:608381 CERKL skos:exactMatch hgnc.symbol:21699 semapv:UnspecifiedMatching +OMIM:608381 CERKL skos:exactMatch hgnc.symbol:CERKL semapv:UnspecifiedMatching +OMIM:608381 CERKL skos:exactMatch ncbigene:375298 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch UMLS:C1420733 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:11808 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:DNAJA3 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch ncbigene:9093 semapv:UnspecifiedMatching +OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:20637 semapv:UnspecifiedMatching +OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:DPYSL5 semapv:UnspecifiedMatching +OMIM:608383 DPYSL5 skos:exactMatch ncbigene:56896 semapv:UnspecifiedMatching +OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:7151 semapv:UnspecifiedMatching +OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:GSDMC semapv:UnspecifiedMatching +OMIM:608384 GSDMC skos:exactMatch ncbigene:56169 semapv:UnspecifiedMatching +OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:24352 semapv:UnspecifiedMatching +OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:TNS4 semapv:UnspecifiedMatching +OMIM:608385 TNS4 skos:exactMatch ncbigene:84951 semapv:UnspecifiedMatching +OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:30828 semapv:UnspecifiedMatching +OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:PTH2 semapv:UnspecifiedMatching +OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch ncbigene:113091 semapv:UnspecifiedMatching +OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:13005 semapv:UnspecifiedMatching +OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:ZNF213 semapv:UnspecifiedMatching +OMIM:608387 ZNF213 skos:exactMatch ncbigene:7760 semapv:UnspecifiedMatching +OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:29548 semapv:UnspecifiedMatching +OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:ECSIT semapv:UnspecifiedMatching +OMIM:608388 ECSIT skos:exactMatch ncbigene:51295 semapv:UnspecifiedMatching +OMIM:608389 branchiootic syndrome 3 skos:exactMatch MONDO:0012025 semapv:UnspecifiedMatching +OMIM:608389 branchiootic syndrome 3 skos:exactMatch Orphanet:52429 semapv:UnspecifiedMatching +OMIM:608389 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching +OMIM:608390 myotonia, potassium-aggravated skos:exactMatch MONDO:0018959 semapv:UnspecifiedMatching +OMIM:608391 autoimmune disease, susceptibility to, 2 skos:exactMatch MONDO:0012027 semapv:UnspecifiedMatching +OMIM:608392 autoimmune disease, susceptibility to, 3 skos:exactMatch MONDO:0012028 semapv:UnspecifiedMatching +OMIM:608393 microcephaly 6, primary, autosomal recessive skos:exactMatch MONDO:0012029 semapv:UnspecifiedMatching +OMIM:608394 deafness, autosomal dominant 43 skos:exactMatch MONDO:0012030 semapv:UnspecifiedMatching +OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:20653 semapv:UnspecifiedMatching +OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:SLC9A9 semapv:UnspecifiedMatching +OMIM:608396 SLC9A9 skos:exactMatch ncbigene:285195 semapv:UnspecifiedMatching +OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:14026 semapv:UnspecifiedMatching +OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:CSMD1 semapv:UnspecifiedMatching +OMIM:608397 CSMD1 skos:exactMatch ncbigene:64478 semapv:UnspecifiedMatching +OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:19290 semapv:UnspecifiedMatching +OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:CSMD2 semapv:UnspecifiedMatching +OMIM:608398 CSMD2 skos:exactMatch ncbigene:114784 semapv:UnspecifiedMatching +OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:19291 semapv:UnspecifiedMatching +OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:CSMD3 semapv:UnspecifiedMatching +OMIM:608399 CSMD3 skos:exactMatch ncbigene:114788 semapv:UnspecifiedMatching +OMIM:608400 USH2A skos:exactMatch hgnc.symbol:12601 semapv:UnspecifiedMatching +OMIM:608400 USH2A skos:exactMatch hgnc.symbol:USH2A semapv:UnspecifiedMatching +OMIM:608400 USH2A skos:exactMatch ncbigene:7399 semapv:UnspecifiedMatching +OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:14284 semapv:UnspecifiedMatching +OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:MS4A4E semapv:UnspecifiedMatching +OMIM:608401 MS4A4E skos:exactMatch ncbigene:643680 semapv:UnspecifiedMatching +OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:14285 semapv:UnspecifiedMatching +OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:MS4A6E semapv:UnspecifiedMatching +OMIM:608402 MS4A6E skos:exactMatch ncbigene:245802 semapv:UnspecifiedMatching +OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:13368 semapv:UnspecifiedMatching +OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:MS4A10 semapv:UnspecifiedMatching +OMIM:608403 MS4A10 skos:exactMatch ncbigene:341116 semapv:UnspecifiedMatching +OMIM:608404 platelet glycoprotein 4 deficiency skos:exactMatch MONDO:0012031 semapv:UnspecifiedMatching +OMIM:608405 ACCS skos:exactMatch hgnc.symbol:23989 semapv:UnspecifiedMatching +OMIM:608405 ACCS skos:exactMatch hgnc.symbol:ACCS semapv:UnspecifiedMatching +OMIM:608405 ACCS skos:exactMatch ncbigene:84680 semapv:UnspecifiedMatching +OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency skos:exactMatch MONDO:0012032 semapv:UnspecifiedMatching +OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:3016 semapv:UnspecifiedMatching +OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:DPYSL4 semapv:UnspecifiedMatching +OMIM:608407 DPYSL4 skos:exactMatch ncbigene:10570 semapv:UnspecifiedMatching +OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:19199 semapv:UnspecifiedMatching +OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:DPPA3 semapv:UnspecifiedMatching +OMIM:608408 DPPA3 skos:exactMatch ncbigene:359787 semapv:UnspecifiedMatching +OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:29898 semapv:UnspecifiedMatching +OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:C15orf48 semapv:UnspecifiedMatching +OMIM:608409 C15ORF48 skos:exactMatch ncbigene:84419 semapv:UnspecifiedMatching +OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:19733 semapv:UnspecifiedMatching +OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:XPO6 semapv:UnspecifiedMatching +OMIM:608411 XPO6 skos:exactMatch ncbigene:23214 semapv:UnspecifiedMatching +OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:29520 semapv:UnspecifiedMatching +OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:GPBP1 semapv:UnspecifiedMatching +OMIM:608412 GPBP1 skos:exactMatch ncbigene:65056 semapv:UnspecifiedMatching +OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:16806 semapv:UnspecifiedMatching +OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:UBR5 semapv:UnspecifiedMatching +OMIM:608413 UBR5 skos:exactMatch ncbigene:51366 semapv:UnspecifiedMatching +OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:17175 semapv:UnspecifiedMatching +OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:PLCE1 semapv:UnspecifiedMatching +OMIM:608414 PLCE1 skos:exactMatch ncbigene:51196 semapv:UnspecifiedMatching +OMIM:608415 prolonged electroretinal response suppression 1 skos:exactMatch MONDO:0958180 semapv:UnspecifiedMatching +OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:14357 semapv:UnspecifiedMatching +OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:MMP21 semapv:UnspecifiedMatching +OMIM:608416 MMP21 skos:exactMatch ncbigene:118856 semapv:UnspecifiedMatching +OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:14366 semapv:UnspecifiedMatching +OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:MMP28 semapv:UnspecifiedMatching +OMIM:608417 MMP28 skos:exactMatch ncbigene:79148 semapv:UnspecifiedMatching +OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:16511 semapv:UnspecifiedMatching +OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:SEPTIN8 semapv:UnspecifiedMatching +OMIM:608418 SEPT8 skos:exactMatch ncbigene:23176 semapv:UnspecifiedMatching +OMIM:608419 MCEE skos:exactMatch hgnc.symbol:16732 semapv:UnspecifiedMatching +OMIM:608419 MCEE skos:exactMatch hgnc.symbol:MCEE semapv:UnspecifiedMatching +OMIM:608419 MCEE skos:exactMatch ncbigene:84693 semapv:UnspecifiedMatching +OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:8599 semapv:UnspecifiedMatching +OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:PANX1 semapv:UnspecifiedMatching +OMIM:608420 PANX1 skos:exactMatch ncbigene:24145 semapv:UnspecifiedMatching +OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:8600 semapv:UnspecifiedMatching +OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:PANX2 semapv:UnspecifiedMatching +OMIM:608421 PANX2 skos:exactMatch ncbigene:56666 semapv:UnspecifiedMatching +OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:20573 semapv:UnspecifiedMatching +OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:PANX3 semapv:UnspecifiedMatching +OMIM:608422 PANX3 skos:exactMatch ncbigene:116337 semapv:UnspecifiedMatching +OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch MONDO:0012034 semapv:UnspecifiedMatching +OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching +OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch UMLS:C1842062 semapv:UnspecifiedMatching +OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:16800 semapv:UnspecifiedMatching +OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:MUC17 semapv:UnspecifiedMatching +OMIM:608424 MUC17 skos:exactMatch ncbigene:140453 semapv:UnspecifiedMatching +OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:24822 semapv:UnspecifiedMatching +OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:FN3K semapv:UnspecifiedMatching +OMIM:608425 fructosamine 3-kinase skos:exactMatch ncbigene:64122 semapv:UnspecifiedMatching +OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:7113 semapv:UnspecifiedMatching +OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:MKRN2 semapv:UnspecifiedMatching +OMIM:608426 MKRN2 skos:exactMatch ncbigene:23609 semapv:UnspecifiedMatching +OMIM:608427 PACRG skos:exactMatch hgnc.symbol:19152 semapv:UnspecifiedMatching +OMIM:608427 PACRG skos:exactMatch hgnc.symbol:PACRG semapv:UnspecifiedMatching +OMIM:608427 PACRG skos:exactMatch ncbigene:135138 semapv:UnspecifiedMatching +OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:20577 semapv:UnspecifiedMatching +OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:CYP26C1 semapv:UnspecifiedMatching +OMIM:608428 CYP26C1 skos:exactMatch ncbigene:340665 semapv:UnspecifiedMatching +OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:24464 semapv:UnspecifiedMatching +OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:CHST14 semapv:UnspecifiedMatching +OMIM:608429 CHST14 skos:exactMatch ncbigene:113189 semapv:UnspecifiedMatching +OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:16181 semapv:UnspecifiedMatching +OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:TRPC4AP semapv:UnspecifiedMatching +OMIM:608430 TRPC4AP skos:exactMatch ncbigene:26133 semapv:UnspecifiedMatching +OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:30292 semapv:UnspecifiedMatching +OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:G3BP1 semapv:UnspecifiedMatching +OMIM:608431 G3BP1 skos:exactMatch ncbigene:10146 semapv:UnspecifiedMatching +OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism skos:exactMatch MONDO:0012035 semapv:UnspecifiedMatching +OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:13030 semapv:UnspecifiedMatching +OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:ZBTB18 semapv:UnspecifiedMatching +OMIM:608433 ZBTB18 skos:exactMatch ncbigene:10472 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch UMLS:C1333676 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:4272 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:GIT1 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch ncbigene:28964 semapv:UnspecifiedMatching +OMIM:608435 MRAS skos:exactMatch hgnc.symbol:7227 semapv:UnspecifiedMatching +OMIM:608435 MRAS skos:exactMatch hgnc.symbol:MRAS semapv:UnspecifiedMatching +OMIM:608435 MRAS skos:exactMatch ncbigene:22808 semapv:UnspecifiedMatching +OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:17845 semapv:UnspecifiedMatching +OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:SULT1B1 semapv:UnspecifiedMatching +OMIM:608436 SULT1B1 skos:exactMatch ncbigene:27284 semapv:UnspecifiedMatching +OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch MONDO:0012036 semapv:UnspecifiedMatching +OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:11841 semapv:UnspecifiedMatching +OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:TLK1 semapv:UnspecifiedMatching +OMIM:608438 TLK1 skos:exactMatch ncbigene:9874 semapv:UnspecifiedMatching +OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:11842 semapv:UnspecifiedMatching +OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:TLK2 semapv:UnspecifiedMatching +OMIM:608439 TLK2 skos:exactMatch ncbigene:11011 semapv:UnspecifiedMatching +OMIM:608440 LACTB skos:exactMatch hgnc.symbol:16468 semapv:UnspecifiedMatching +OMIM:608440 LACTB skos:exactMatch hgnc.symbol:LACTB semapv:UnspecifiedMatching +OMIM:608440 LACTB skos:exactMatch ncbigene:114294 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C1424736 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:17089 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:SYNE1 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch ncbigene:23345 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch UMLS:C1424731 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch UMLS:C3489792 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:17084 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:SYNE2 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch ncbigene:23224 semapv:UnspecifiedMatching +OMIM:608443 intellectual developmental disorder, autosomal recessive 3 skos:exactMatch MONDO:0012037 semapv:UnspecifiedMatching +OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:18541 semapv:UnspecifiedMatching +OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:KMT2E semapv:UnspecifiedMatching +OMIM:608444 KMT2E skos:exactMatch ncbigene:55904 semapv:UnspecifiedMatching +OMIM:608445 speech-sound disorder skos:exactMatch MONDO:0012038 semapv:UnspecifiedMatching +OMIM:608446 myocardial infarction, susceptibility to skos:exactMatch MONDO:0012039 semapv:UnspecifiedMatching +OMIM:608448 inflammatory bowel disease 9 skos:exactMatch MONDO:0012040 semapv:UnspecifiedMatching +OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:17662 semapv:UnspecifiedMatching +OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:PTBP2 semapv:UnspecifiedMatching +OMIM:608449 PTBP2 skos:exactMatch ncbigene:58155 semapv:UnspecifiedMatching +OMIM:608450 BLACE skos:exactMatch hgnc.symbol:20484 semapv:UnspecifiedMatching +OMIM:608450 BLACE skos:exactMatch hgnc.symbol:BLACE semapv:UnspecifiedMatching +OMIM:608450 BLACE skos:exactMatch ncbigene:338436 semapv:UnspecifiedMatching +OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:23287 semapv:UnspecifiedMatching +OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:ETHE1 semapv:UnspecifiedMatching +OMIM:608451 ETHE1 skos:exactMatch ncbigene:23474 semapv:UnspecifiedMatching +OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:8801 semapv:UnspecifiedMatching +OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:PDGFC semapv:UnspecifiedMatching +OMIM:608452 PDGFC skos:exactMatch ncbigene:56034 semapv:UnspecifiedMatching +OMIM:608453 CBLC skos:exactMatch hgnc.symbol:15961 semapv:UnspecifiedMatching +OMIM:608453 CBLC skos:exactMatch hgnc.symbol:CBLC semapv:UnspecifiedMatching +OMIM:608453 CBLC skos:exactMatch ncbigene:23624 semapv:UnspecifiedMatching +OMIM:608455 PYGM skos:exactMatch hgnc.symbol:9726 semapv:UnspecifiedMatching +OMIM:608455 PYGM skos:exactMatch hgnc.symbol:PYGM semapv:UnspecifiedMatching +OMIM:608455 PYGM skos:exactMatch ncbigene:5837 semapv:UnspecifiedMatching +OMIM:608456 familial adenomatous polyposis 2 skos:exactMatch MONDO:0012041 semapv:UnspecifiedMatching +OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:1557 semapv:UnspecifiedMatching +OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:CBX7 semapv:UnspecifiedMatching +OMIM:608457 CBX7 skos:exactMatch ncbigene:23492 semapv:UnspecifiedMatching +OMIM:608458 NCDN skos:exactMatch hgnc.symbol:17597 semapv:UnspecifiedMatching +OMIM:608458 NCDN skos:exactMatch hgnc.symbol:NCDN semapv:UnspecifiedMatching +OMIM:608458 NCDN skos:exactMatch ncbigene:23154 semapv:UnspecifiedMatching +OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:15483 semapv:UnspecifiedMatching +OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:CDKL3 semapv:UnspecifiedMatching +OMIM:608459 CDKL3 skos:exactMatch ncbigene:51265 semapv:UnspecifiedMatching +OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:23330 semapv:UnspecifiedMatching +OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:ZNF276 semapv:UnspecifiedMatching +OMIM:608460 ZFP276 skos:exactMatch ncbigene:92822 semapv:UnspecifiedMatching +OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:22986 semapv:UnspecifiedMatching +OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:COL27A1 semapv:UnspecifiedMatching +OMIM:608461 COL27A1 skos:exactMatch ncbigene:85301 semapv:UnspecifiedMatching +OMIM:608462 hirschsprung disease, susceptibility to, 8 skos:exactMatch MONDO:0012042 semapv:UnspecifiedMatching +OMIM:608463 AATF skos:exactMatch hgnc.symbol:19235 semapv:UnspecifiedMatching +OMIM:608463 AATF skos:exactMatch hgnc.symbol:AATF semapv:UnspecifiedMatching +OMIM:608463 AATF skos:exactMatch ncbigene:26574 semapv:UnspecifiedMatching +OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:24684 semapv:UnspecifiedMatching +OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:AGGF1 semapv:UnspecifiedMatching +OMIM:608464 AGGF1 skos:exactMatch ncbigene:55109 semapv:UnspecifiedMatching +OMIM:608465 SETX skos:exactMatch hgnc.symbol:445 semapv:UnspecifiedMatching +OMIM:608465 SETX skos:exactMatch hgnc.symbol:SETX semapv:UnspecifiedMatching +OMIM:608465 SETX skos:exactMatch ncbigene:23064 semapv:UnspecifiedMatching +OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:1189 semapv:UnspecifiedMatching +OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:AHSA1 semapv:UnspecifiedMatching +OMIM:608466 AHSA1 skos:exactMatch ncbigene:10598 semapv:UnspecifiedMatching +OMIM:608467 STON2 skos:exactMatch hgnc.symbol:30652 semapv:UnspecifiedMatching +OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching +OMIM:608467 STON2 skos:exactMatch ncbigene:85439 semapv:UnspecifiedMatching +OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching +OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching +OMIM:608468 CCRN4L skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch UMLS:C1413957 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:2740 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:DDX17 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch ncbigene:10521 semapv:UnspecifiedMatching +OMIM:608470 corneal dystrophy, reis-bucklers iia skos:exactMatch MONDO:0012043 semapv:UnspecifiedMatching +OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch MONDO:0012044 semapv:UnspecifiedMatching +OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching +OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching +OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:10861 semapv:UnspecifiedMatching +OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:ST6GAL2 semapv:UnspecifiedMatching +OMIM:608472 ST6GAL2 skos:exactMatch ncbigene:84620 semapv:UnspecifiedMatching +OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:19988 semapv:UnspecifiedMatching +OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:ANAPC1 semapv:UnspecifiedMatching +OMIM:608473 ANAPC1 skos:exactMatch ncbigene:64682 semapv:UnspecifiedMatching +OMIM:608474 myopia 5, autosomal dominant skos:exactMatch MONDO:0012045 semapv:UnspecifiedMatching +OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:4907 semapv:UnspecifiedMatching +OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:HIBADH semapv:UnspecifiedMatching +OMIM:608475 HIBADH skos:exactMatch ncbigene:11112 semapv:UnspecifiedMatching +OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:30140 semapv:UnspecifiedMatching +OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:TBKBP1 semapv:UnspecifiedMatching +OMIM:608476 TBKBP1 skos:exactMatch ncbigene:9755 semapv:UnspecifiedMatching +OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:390 semapv:UnspecifiedMatching +OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:AKR7A3 semapv:UnspecifiedMatching +OMIM:608477 AKR7A3 skos:exactMatch ncbigene:22977 semapv:UnspecifiedMatching +OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:24056 semapv:UnspecifiedMatching +OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:AKR7L semapv:UnspecifiedMatching +OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch ncbigene:246181 semapv:UnspecifiedMatching +OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:14467 semapv:UnspecifiedMatching +OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:SLC26A7 semapv:UnspecifiedMatching +OMIM:608479 SLC26A7 skos:exactMatch ncbigene:115111 semapv:UnspecifiedMatching +OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:14468 semapv:UnspecifiedMatching +OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:SLC26A8 semapv:UnspecifiedMatching +OMIM:608480 SLC26A8 skos:exactMatch ncbigene:116369 semapv:UnspecifiedMatching +OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:14469 semapv:UnspecifiedMatching +OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:SLC26A9 semapv:UnspecifiedMatching +OMIM:608481 SLC26A9 skos:exactMatch ncbigene:115019 semapv:UnspecifiedMatching +OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:14246 semapv:UnspecifiedMatching +OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:MMP25 semapv:UnspecifiedMatching +OMIM:608482 MMP25 skos:exactMatch ncbigene:64386 semapv:UnspecifiedMatching +OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:16710 semapv:UnspecifiedMatching +OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:AKTIP semapv:UnspecifiedMatching +OMIM:608483 AKTIP skos:exactMatch ncbigene:64400 semapv:UnspecifiedMatching +OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch MONDO:0012046 semapv:UnspecifiedMatching +OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:16855 semapv:UnspecifiedMatching +OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:TRAM2 semapv:UnspecifiedMatching +OMIM:608485 TRAM2 skos:exactMatch ncbigene:9697 semapv:UnspecifiedMatching +OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:20443 semapv:UnspecifiedMatching +OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:MTSS1 semapv:UnspecifiedMatching +OMIM:608486 MTSS1 skos:exactMatch ncbigene:9788 semapv:UnspecifiedMatching +OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:16276 semapv:UnspecifiedMatching +OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:TRIM5 semapv:UnspecifiedMatching +OMIM:608487 TRIM5 skos:exactMatch ncbigene:85363 semapv:UnspecifiedMatching +OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:20318 semapv:UnspecifiedMatching +OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:SMOC1 semapv:UnspecifiedMatching +OMIM:608488 SMOC1 skos:exactMatch ncbigene:64093 semapv:UnspecifiedMatching +OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:11356 semapv:UnspecifiedMatching +OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:STAG3 semapv:UnspecifiedMatching +OMIM:608489 STAG3 skos:exactMatch ncbigene:10734 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch UMLS:C1421999 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:13447 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:SLC38A1 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch ncbigene:81539 semapv:UnspecifiedMatching +OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:14603 semapv:UnspecifiedMatching +OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:DMTF1 semapv:UnspecifiedMatching +OMIM:608491 DMTF1 skos:exactMatch ncbigene:9988 semapv:UnspecifiedMatching +OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:8343 semapv:UnspecifiedMatching +OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:OR5F1 semapv:UnspecifiedMatching +OMIM:608492 OR5F1 skos:exactMatch ncbigene:338674 semapv:UnspecifiedMatching +OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:15131 semapv:UnspecifiedMatching +OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:OR10A5 semapv:UnspecifiedMatching +OMIM:608493 OR10A1 skos:exactMatch ncbigene:144124 semapv:UnspecifiedMatching +OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:8244 semapv:UnspecifiedMatching +OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:OR2D2 semapv:UnspecifiedMatching +OMIM:608494 OR2D2 skos:exactMatch ncbigene:120776 semapv:UnspecifiedMatching +OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:15301 semapv:UnspecifiedMatching +OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:OR6A2 semapv:UnspecifiedMatching +OMIM:608495 OR6A2 skos:exactMatch ncbigene:8590 semapv:UnspecifiedMatching +OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:8347 semapv:UnspecifiedMatching +OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:OR5I1 semapv:UnspecifiedMatching +OMIM:608496 OR5I1 skos:exactMatch ncbigene:10798 semapv:UnspecifiedMatching +OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:8246 semapv:UnspecifiedMatching +OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:OR2F1 semapv:UnspecifiedMatching +OMIM:608497 OR2F1 skos:exactMatch ncbigene:26211 semapv:UnspecifiedMatching +OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:15662 semapv:UnspecifiedMatching +OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:ZPBP semapv:UnspecifiedMatching +OMIM:608498 ZPBP skos:exactMatch ncbigene:11055 semapv:UnspecifiedMatching +OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:20678 semapv:UnspecifiedMatching +OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:ZPBP2 semapv:UnspecifiedMatching +OMIM:608499 ZPBP2 skos:exactMatch ncbigene:124626 semapv:UnspecifiedMatching +OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:17019 semapv:UnspecifiedMatching +OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:PRICKLE1 semapv:UnspecifiedMatching +OMIM:608500 PRICKLE1 skos:exactMatch ncbigene:144165 semapv:UnspecifiedMatching +OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:20340 semapv:UnspecifiedMatching +OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:PRICKLE2 semapv:UnspecifiedMatching +OMIM:608501 PRICKLE2 skos:exactMatch ncbigene:166336 semapv:UnspecifiedMatching +OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:8651 semapv:UnspecifiedMatching +OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:PCBP3 semapv:UnspecifiedMatching +OMIM:608502 PCBP3 skos:exactMatch ncbigene:54039 semapv:UnspecifiedMatching +OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:8652 semapv:UnspecifiedMatching +OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:PCBP4 semapv:UnspecifiedMatching +OMIM:608503 PCBP4 skos:exactMatch ncbigene:57060 semapv:UnspecifiedMatching +OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:15590 semapv:UnspecifiedMatching +OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:ARHGEF15 semapv:UnspecifiedMatching +OMIM:608504 ARHGEF15 skos:exactMatch ncbigene:22899 semapv:UnspecifiedMatching +OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:18262 semapv:UnspecifiedMatching +OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:MFN1 semapv:UnspecifiedMatching +OMIM:608506 MFN1 skos:exactMatch ncbigene:55669 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch UMLS:C0393807 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch UMLS:C1424611 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch UMLS:C4310725 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch UMLS:C4310875 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:16877 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:MFN2 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch ncbigene:9927 semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch UMLS:C1413843 semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch UMLS:C4017159 semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch hgnc.symbol:2577 semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch hgnc.symbol:CYBA semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch ncbigene:1535 semapv:UnspecifiedMatching +OMIM:608509 alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia skos:exactMatch MONDO:0012047 semapv:UnspecifiedMatching +OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:30416 semapv:UnspecifiedMatching +OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:SH2D1B semapv:UnspecifiedMatching +OMIM:608510 SH2D1B skos:exactMatch ncbigene:117157 semapv:UnspecifiedMatching +OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:16865 semapv:UnspecifiedMatching +OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:PHYHIP semapv:UnspecifiedMatching +OMIM:608511 PHYHIP skos:exactMatch ncbigene:9796 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch UMLS:C1417608 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:7660 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:NCF1 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch ncbigene:653361 semapv:UnspecifiedMatching +OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:19273 semapv:UnspecifiedMatching +OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:RPPH1 semapv:UnspecifiedMatching +OMIM:608513 RPPH1 skos:exactMatch ncbigene:85495 semapv:UnspecifiedMatching +OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:21607 semapv:UnspecifiedMatching +OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:AIG1 semapv:UnspecifiedMatching +OMIM:608514 AIG1 skos:exactMatch ncbigene:51390 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch UMLS:C1417609 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:7661 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:NCF2 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch ncbigene:4688 semapv:UnspecifiedMatching +OMIM:608516 major depressive disorder skos:exactMatch MONDO:0002009 semapv:UnspecifiedMatching +OMIM:608517 MYPN skos:exactMatch hgnc.symbol:23246 semapv:UnspecifiedMatching +OMIM:608517 MYPN skos:exactMatch hgnc.symbol:MYPN semapv:UnspecifiedMatching +OMIM:608517 MYPN skos:exactMatch ncbigene:84665 semapv:UnspecifiedMatching +OMIM:608518 orofaciodigital syndrome 7 skos:exactMatch MONDO:0012049 semapv:UnspecifiedMatching +OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:13618 semapv:UnspecifiedMatching +OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:FBXO16 semapv:UnspecifiedMatching +OMIM:608519 FBXO16 skos:exactMatch ncbigene:157574 semapv:UnspecifiedMatching +OMIM:608520 major depressive disorder 1 skos:exactMatch MONDO:0012050 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch UMLS:C1425201 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:17955 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:LAMTOR5 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch ncbigene:10542 semapv:UnspecifiedMatching +OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:18118 semapv:UnspecifiedMatching +OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:RSF1 semapv:UnspecifiedMatching +OMIM:608522 HBXAP skos:exactMatch ncbigene:51773 semapv:UnspecifiedMatching +OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:20348 semapv:UnspecifiedMatching +OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:DIO3OS semapv:UnspecifiedMatching +OMIM:608523 DIO3OS skos:exactMatch ncbigene:64150 semapv:UnspecifiedMatching +OMIM:608524 ING4 skos:exactMatch UMLS:C1426234 semapv:UnspecifiedMatching +OMIM:608524 ING4 skos:exactMatch hgnc.symbol:19423 semapv:UnspecifiedMatching +OMIM:608524 ING4 skos:exactMatch hgnc.symbol:ING4 semapv:UnspecifiedMatching +OMIM:608524 ING4 skos:exactMatch ncbigene:51147 semapv:UnspecifiedMatching +OMIM:608525 ING5 skos:exactMatch hgnc.symbol:19421 semapv:UnspecifiedMatching +OMIM:608525 ING5 skos:exactMatch hgnc.symbol:ING5 semapv:UnspecifiedMatching +OMIM:608525 ING5 skos:exactMatch ncbigene:84289 semapv:UnspecifiedMatching +OMIM:608526 periodontitis, aggressive, 2 skos:exactMatch MONDO:0012051 semapv:UnspecifiedMatching +OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:21328 semapv:UnspecifiedMatching +OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:NEU4 semapv:UnspecifiedMatching +OMIM:608527 NEU4 skos:exactMatch ncbigene:129807 semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch UMLS:C1423732 semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch hgnc.symbol:15791 semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch hgnc.symbol:PIGU semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch ncbigene:128869 semapv:UnspecifiedMatching +OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:18794 semapv:UnspecifiedMatching +OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:FBN3 semapv:UnspecifiedMatching +OMIM:608529 FBN3 skos:exactMatch ncbigene:84467 semapv:UnspecifiedMatching +OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:1120 semapv:UnspecifiedMatching +OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:BTBD1 semapv:UnspecifiedMatching +OMIM:608530 BTBD1 skos:exactMatch ncbigene:53339 semapv:UnspecifiedMatching +OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:15504 semapv:UnspecifiedMatching +OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:BTBD2 semapv:UnspecifiedMatching +OMIM:608531 BTBD2 skos:exactMatch ncbigene:55643 semapv:UnspecifiedMatching +OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:21904 semapv:UnspecifiedMatching +OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:NCAPG2 semapv:UnspecifiedMatching +OMIM:608532 NCAPG2 skos:exactMatch ncbigene:54892 semapv:UnspecifiedMatching +OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:28844 semapv:UnspecifiedMatching +OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:FBXO38 semapv:UnspecifiedMatching +OMIM:608533 FBXO38 skos:exactMatch ncbigene:81545 semapv:UnspecifiedMatching +OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:24022 semapv:UnspecifiedMatching +OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:ACTRT3 semapv:UnspecifiedMatching +OMIM:608534 actin-related protein m1 skos:exactMatch ncbigene:84517 semapv:UnspecifiedMatching +OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:24026 semapv:UnspecifiedMatching +OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:ACTRT2 semapv:UnspecifiedMatching +OMIM:608535 ACTRT2 skos:exactMatch ncbigene:140625 semapv:UnspecifiedMatching +OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:14880 semapv:UnspecifiedMatching +OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:GTPBP3 semapv:UnspecifiedMatching +OMIM:608536 GTPBP3 skos:exactMatch ncbigene:84705 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C0694897 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C4017160 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C4017161 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch UMLS:C5394582 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch hgnc.symbol:12687 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch hgnc.symbol:VHL semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch ncbigene:7428 semapv:UnspecifiedMatching +OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:17362 semapv:UnspecifiedMatching +OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:ARID5B semapv:UnspecifiedMatching +OMIM:608538 ARID5B skos:exactMatch ncbigene:84159 semapv:UnspecifiedMatching +OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:29450 semapv:UnspecifiedMatching +OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:GLIS2 semapv:UnspecifiedMatching +OMIM:608539 GLIS2 skos:exactMatch ncbigene:84662 semapv:UnspecifiedMatching +OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch MONDO:0012052 semapv:UnspecifiedMatching +OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching +OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching +OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching +OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching +OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching +OMIM:608542 aneurysm, intracranial berry, 2 skos:exactMatch MONDO:0012053 semapv:UnspecifiedMatching +OMIM:608543 schizophrenia 12 skos:exactMatch MONDO:0012054 semapv:UnspecifiedMatching +OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:18128 semapv:UnspecifiedMatching +OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:HDAC10 semapv:UnspecifiedMatching +OMIM:608544 HDAC10 skos:exactMatch ncbigene:83933 semapv:UnspecifiedMatching +OMIM:608545 larsen-like syndrome skos:exactMatch MONDO:0012055 semapv:UnspecifiedMatching +OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:18683 semapv:UnspecifiedMatching +OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:EIF4A3 semapv:UnspecifiedMatching +OMIM:608546 EIF4A3 skos:exactMatch ncbigene:9775 semapv:UnspecifiedMatching +OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:23663 semapv:UnspecifiedMatching +OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:VKORC1 semapv:UnspecifiedMatching +OMIM:608547 VKORC1 skos:exactMatch ncbigene:79001 semapv:UnspecifiedMatching +OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:19194 semapv:UnspecifiedMatching +OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:HMCN1 semapv:UnspecifiedMatching +OMIM:608548 HMCN1 skos:exactMatch ncbigene:83872 semapv:UnspecifiedMatching +OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:14583 semapv:UnspecifiedMatching +OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:VPS11 semapv:UnspecifiedMatching +OMIM:608549 VPS11 skos:exactMatch ncbigene:55823 semapv:UnspecifiedMatching +OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:14584 semapv:UnspecifiedMatching +OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:VPS16 semapv:UnspecifiedMatching +OMIM:608550 VPS16 skos:exactMatch ncbigene:64601 semapv:UnspecifiedMatching +OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:15972 semapv:UnspecifiedMatching +OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:VPS18 semapv:UnspecifiedMatching +OMIM:608551 VPS18 skos:exactMatch ncbigene:57617 semapv:UnspecifiedMatching +OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:12712 semapv:UnspecifiedMatching +OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:VPS33B semapv:UnspecifiedMatching +OMIM:608552 VPS33B skos:exactMatch ncbigene:26276 semapv:UnspecifiedMatching +OMIM:608553 leber congenital amaurosis 9 skos:exactMatch MONDO:0012056 semapv:UnspecifiedMatching +OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:18983 semapv:UnspecifiedMatching +OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:NPAS4 semapv:UnspecifiedMatching +OMIM:608554 NPAS4 skos:exactMatch ncbigene:266743 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch UMLS:C1417489 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:7506 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:MTX2 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch ncbigene:10651 semapv:UnspecifiedMatching +OMIM:608556 legionnaire disease, susceptibility to skos:exactMatch MONDO:0012057 semapv:UnspecifiedMatching +OMIM:608557 myocardial infarction, susceptibility to, 2 skos:exactMatch MONDO:0012058 semapv:UnspecifiedMatching +OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:18628 semapv:UnspecifiedMatching +OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:STAB1 semapv:UnspecifiedMatching +OMIM:608560 STAB1 skos:exactMatch ncbigene:23166 semapv:UnspecifiedMatching +OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:18629 semapv:UnspecifiedMatching +OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:STAB2 semapv:UnspecifiedMatching +OMIM:608561 STAB2 skos:exactMatch ncbigene:55576 semapv:UnspecifiedMatching +OMIM:608562 polydactyly, postaxial, iia a4 skos:exactMatch MONDO:0012059 semapv:UnspecifiedMatching +OMIM:608564 GIT2 skos:exactMatch UMLS:C1333677 semapv:UnspecifiedMatching +OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:4273 semapv:UnspecifiedMatching +OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:GIT2 semapv:UnspecifiedMatching +OMIM:608564 GIT2 skos:exactMatch ncbigene:9815 semapv:UnspecifiedMatching +OMIM:608565 deafness, autosomal recessive 35 skos:exactMatch MONDO:0012060 semapv:UnspecifiedMatching +OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:14956 semapv:UnspecifiedMatching +OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:MUC15 semapv:UnspecifiedMatching +OMIM:608566 MUC15 skos:exactMatch ncbigene:143662 semapv:UnspecifiedMatching +OMIM:608567 sick sinus syndrome 1 skos:exactMatch MONDO:0024562 semapv:UnspecifiedMatching +OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:23212 semapv:UnspecifiedMatching +OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:MYH14 semapv:UnspecifiedMatching +OMIM:608568 MYH14 skos:exactMatch ncbigene:79784 semapv:UnspecifiedMatching +OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch MONDO:0012062 semapv:UnspecifiedMatching +OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching +OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:20125 semapv:UnspecifiedMatching +OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:AHNAK2 semapv:UnspecifiedMatching +OMIM:608570 AHNAK2 skos:exactMatch ncbigene:113146 semapv:UnspecifiedMatching +OMIM:608571 ulnar/fibular ray defect and brachydactyly skos:exactMatch MONDO:0012063 semapv:UnspecifiedMatching +OMIM:608572 burn-mckeown syndrome skos:exactMatch MONDO:0012064 semapv:UnspecifiedMatching +OMIM:608574 EMSY skos:exactMatch hgnc.symbol:18071 semapv:UnspecifiedMatching +OMIM:608574 EMSY skos:exactMatch hgnc.symbol:EMSY semapv:UnspecifiedMatching +OMIM:608574 EMSY skos:exactMatch ncbigene:56946 semapv:UnspecifiedMatching +OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:14423 semapv:UnspecifiedMatching +OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:RDH8 semapv:UnspecifiedMatching +OMIM:608575 RDH8 skos:exactMatch ncbigene:50700 semapv:UnspecifiedMatching +OMIM:608576 GRHL2 skos:exactMatch hgnc.symbol:2799 semapv:UnspecifiedMatching +OMIM:608576 GRHL2 skos:exactMatch hgnc.symbol:GRHL2 semapv:UnspecifiedMatching +OMIM:608576 GRHL2 skos:exactMatch ncbigene:79977 semapv:UnspecifiedMatching +OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:20099 semapv:UnspecifiedMatching +OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:CHURC1 semapv:UnspecifiedMatching +OMIM:608577 CHURC1 skos:exactMatch ncbigene:91612 semapv:UnspecifiedMatching +OMIM:608579 severe cutaneous adverse reaction, susceptibility to skos:exactMatch MONDO:0018229 semapv:UnspecifiedMatching +OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:31038 semapv:UnspecifiedMatching +OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:MYH16 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C1423850 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C4017164 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:15946 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:RP1L1 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch ncbigene:94137 semapv:UnspecifiedMatching +OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:20594 semapv:UnspecifiedMatching +OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:EGFL7 semapv:UnspecifiedMatching +OMIM:608582 EGFL7 skos:exactMatch ncbigene:51162 semapv:UnspecifiedMatching +OMIM:608583 atrial fibrillation, familial, 1 skos:exactMatch MONDO:0012066 semapv:UnspecifiedMatching +OMIM:608584 asthma-related traits, susceptibility to, 2 skos:exactMatch MONDO:0012067 semapv:UnspecifiedMatching +OMIM:608585 brachial palsy, familial congenital skos:exactMatch MONDO:0012068 semapv:UnspecifiedMatching +OMIM:608586 keratoconus 3 skos:exactMatch MONDO:0012069 semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch UMLS:C1825345 semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch hgnc.symbol:24438 semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch hgnc.symbol:GHDC semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch ncbigene:84514 semapv:UnspecifiedMatching +OMIM:608588 DHX58 skos:exactMatch UMLS:C1837808 semapv:UnspecifiedMatching +OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:29517 semapv:UnspecifiedMatching +OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:DHX58 semapv:UnspecifiedMatching +OMIM:608588 DHX58 skos:exactMatch ncbigene:79132 semapv:UnspecifiedMatching +OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:18430 semapv:UnspecifiedMatching +OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:SLAMF9 semapv:UnspecifiedMatching +OMIM:608589 SLAMF9 skos:exactMatch ncbigene:89886 semapv:UnspecifiedMatching +OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:16890 semapv:UnspecifiedMatching +OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:CTDSPL semapv:UnspecifiedMatching +OMIM:608592 CTDSPL skos:exactMatch ncbigene:10217 semapv:UnspecifiedMatching +OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:24668 semapv:UnspecifiedMatching +OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:CFHR5 semapv:UnspecifiedMatching +OMIM:608593 CFHR5 skos:exactMatch ncbigene:81494 semapv:UnspecifiedMatching +OMIM:608594 lipodystrophy, congenital generalized, iia 1 skos:exactMatch MONDO:0012071 semapv:UnspecifiedMatching +OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:23631 semapv:UnspecifiedMatching +OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:NPSR1 semapv:UnspecifiedMatching +OMIM:608595 NPSR1 skos:exactMatch ncbigene:387129 semapv:UnspecifiedMatching +OMIM:608596 NPSRAS1 skos:exactMatch hgnc.symbol:22128 semapv:UnspecifiedMatching +OMIM:608596 NPSRAS1 skos:exactMatch hgnc.symbol:NPSR1-AS1 semapv:UnspecifiedMatching +OMIM:608596 NPSRAS1 skos:exactMatch ncbigene:404744 semapv:UnspecifiedMatching +OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:16156 semapv:UnspecifiedMatching +OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:NEURL2 semapv:UnspecifiedMatching +OMIM:608597 NEURL2 skos:exactMatch ncbigene:140825 semapv:UnspecifiedMatching +OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:22933 semapv:UnspecifiedMatching +OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:CASC2 semapv:UnspecifiedMatching +OMIM:608598 CASC2 skos:exactMatch ncbigene:255082 semapv:UnspecifiedMatching +OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:29152 semapv:UnspecifiedMatching +OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:RAB11FIP2 semapv:UnspecifiedMatching +OMIM:608599 RAB11FIP2 skos:exactMatch ncbigene:22841 semapv:UnspecifiedMatching +OMIM:608600 lipodystrophy, familial partial, iia 1 skos:exactMatch MONDO:0012072 semapv:UnspecifiedMatching +OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:20442 semapv:UnspecifiedMatching +OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:FBRS semapv:UnspecifiedMatching +OMIM:608601 FBS1 skos:exactMatch ncbigene:64319 semapv:UnspecifiedMatching +OMIM:608602 SP140 skos:exactMatch hgnc.symbol:17133 semapv:UnspecifiedMatching +OMIM:608602 SP140 skos:exactMatch hgnc.symbol:SP140 semapv:UnspecifiedMatching +OMIM:608602 SP140 skos:exactMatch ncbigene:11262 semapv:UnspecifiedMatching +OMIM:608603 GLDN skos:exactMatch hgnc.symbol:29514 semapv:UnspecifiedMatching +OMIM:608603 GLDN skos:exactMatch hgnc.symbol:GLDN semapv:UnspecifiedMatching +OMIM:608603 GLDN skos:exactMatch ncbigene:342035 semapv:UnspecifiedMatching +OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:30316 semapv:UnspecifiedMatching +OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:RBP7 semapv:UnspecifiedMatching +OMIM:608604 RBP7 skos:exactMatch ncbigene:116362 semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch UMLS:C1823139 semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch UMLS:C2931007 semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch hgnc.symbol:30611 semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch hgnc.symbol:STT3B semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch ncbigene:201595 semapv:UnspecifiedMatching +OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:22265 semapv:UnspecifiedMatching +OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:BHLHA15 semapv:UnspecifiedMatching +OMIM:608606 BHLHA15 skos:exactMatch ncbigene:168620 semapv:UnspecifiedMatching +OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:24297 semapv:UnspecifiedMatching +OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:NBPF12 semapv:UnspecifiedMatching +OMIM:608607 NBPF12 skos:exactMatch ncbigene:149013 semapv:UnspecifiedMatching +OMIM:608608 PPIAL4E skos:exactMatch hgnc.symbol:33997 semapv:UnspecifiedMatching +OMIM:608608 PPIAL4E skos:exactMatch hgnc.symbol:PPIAL4E semapv:UnspecifiedMatching +OMIM:608608 PPIAL4E skos:exactMatch ncbigene:730262 semapv:UnspecifiedMatching +OMIM:608609 C1ORF152 skos:exactMatch hgnc.symbol:24298 semapv:UnspecifiedMatching +OMIM:608609 C1ORF152 skos:exactMatch hgnc.symbol:PFN1P2 semapv:UnspecifiedMatching +OMIM:608609 C1ORF152 skos:exactMatch ncbigene:767846 semapv:UnspecifiedMatching +OMIM:608610 PDCD4 skos:exactMatch hgnc.symbol:8763 semapv:UnspecifiedMatching +OMIM:608610 PDCD4 skos:exactMatch hgnc.symbol:PDCD4 semapv:UnspecifiedMatching +OMIM:608610 PDCD4 skos:exactMatch ncbigene:27250 semapv:UnspecifiedMatching +OMIM:608611 ribose 5-phosphate isomerase deficiency skos:exactMatch MONDO:0012073 semapv:UnspecifiedMatching +OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch MONDO:0012074 semapv:UnspecifiedMatching +OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch Orphanet:2457 semapv:UnspecifiedMatching +OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch Orphanet:90154 semapv:UnspecifiedMatching +OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch UMLS:C1837756 semapv:UnspecifiedMatching +OMIM:608613 SP6 skos:exactMatch hgnc.symbol:14530 semapv:UnspecifiedMatching +OMIM:608613 SP6 skos:exactMatch hgnc.symbol:SP6 semapv:UnspecifiedMatching +OMIM:608613 SP6 skos:exactMatch ncbigene:80320 semapv:UnspecifiedMatching +OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:23198 semapv:UnspecifiedMatching +OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:CYP4V2 semapv:UnspecifiedMatching +OMIM:608614 CYP4V2 skos:exactMatch ncbigene:285440 semapv:UnspecifiedMatching +OMIM:608615 oligodontia-colorectal cancer syndrome skos:exactMatch MONDO:0012075 semapv:UnspecifiedMatching +OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:15719 semapv:UnspecifiedMatching +OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:OBSCN semapv:UnspecifiedMatching +OMIM:608616 OBSCN skos:exactMatch ncbigene:84033 semapv:UnspecifiedMatching +OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:1253 semapv:UnspecifiedMatching +OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:FAM3B semapv:UnspecifiedMatching +OMIM:608617 FAM3B skos:exactMatch ncbigene:54097 semapv:UnspecifiedMatching +OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:18664 semapv:UnspecifiedMatching +OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:FAM3C semapv:UnspecifiedMatching +OMIM:608618 FAM3C skos:exactMatch ncbigene:10447 semapv:UnspecifiedMatching +OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:18665 semapv:UnspecifiedMatching +OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:FAM3D semapv:UnspecifiedMatching +OMIM:608619 FAM3D skos:exactMatch ncbigene:131177 semapv:UnspecifiedMatching +OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:11210 semapv:UnspecifiedMatching +OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:SPA17 semapv:UnspecifiedMatching +OMIM:608621 SPA17 skos:exactMatch ncbigene:53340 semapv:UnspecifiedMatching +OMIM:608622 hypertension, diastolic, resistance to skos:exactMatch MONDO:0044273 semapv:UnspecifiedMatching +OMIM:608624 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch MONDO:0012076 semapv:UnspecifiedMatching +OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:24265 semapv:UnspecifiedMatching +OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:PTRH2 semapv:UnspecifiedMatching +OMIM:608625 PTRH2 skos:exactMatch ncbigene:51651 semapv:UnspecifiedMatching +OMIM:608626 STRADA skos:exactMatch hgnc.symbol:30172 semapv:UnspecifiedMatching +OMIM:608626 STRADA skos:exactMatch hgnc.symbol:STRADA semapv:UnspecifiedMatching +OMIM:608626 STRADA skos:exactMatch ncbigene:92335 semapv:UnspecifiedMatching +OMIM:608627 amyotrophic lateral sclerosis 8 skos:exactMatch MONDO:0012077 semapv:UnspecifiedMatching +OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:29529 semapv:UnspecifiedMatching +OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:TBL1XR1 semapv:UnspecifiedMatching +OMIM:608628 TBL1XR1 skos:exactMatch ncbigene:79718 semapv:UnspecifiedMatching +OMIM:608629 joubert syndrome 3 skos:exactMatch MONDO:0012078 semapv:UnspecifiedMatching +OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:13433 semapv:UnspecifiedMatching +OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:ROBO3 semapv:UnspecifiedMatching +OMIM:608630 ROBO3 skos:exactMatch ncbigene:64221 semapv:UnspecifiedMatching +OMIM:608631 asperger syndrome, susceptibility to, 2 skos:exactMatch MONDO:0012079 semapv:UnspecifiedMatching +OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:31567 semapv:UnspecifiedMatching +OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:MIR196A1 semapv:UnspecifiedMatching +OMIM:608632 MIR196A1 skos:exactMatch ncbigene:406972 semapv:UnspecifiedMatching +OMIM:608633 CASP12 skos:exactMatch hgnc.symbol:19004 semapv:UnspecifiedMatching +OMIM:608633 CASP12 skos:exactMatch hgnc.symbol:CASP12 semapv:UnspecifiedMatching +OMIM:608633 CASP12 skos:exactMatch ncbigene:100506742 semapv:UnspecifiedMatching +OMIM:608634 neuronopathy, distal hereditary motor, autosomal dominant 3 skos:exactMatch MONDO:0012080 semapv:UnspecifiedMatching +OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:16487 semapv:UnspecifiedMatching +OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:ADAP2 semapv:UnspecifiedMatching +OMIM:608635 ADAP2 skos:exactMatch ncbigene:55803 semapv:UnspecifiedMatching +OMIM:608636 chromosome 15q11-q13 duplication syndrome skos:exactMatch MONDO:0012081 semapv:UnspecifiedMatching +OMIM:608638 asperger syndrome, susceptibility to, 1 skos:exactMatch MONDO:0012082 semapv:UnspecifiedMatching +OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:30037 semapv:UnspecifiedMatching +OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:PLEKHA8 semapv:UnspecifiedMatching +OMIM:608639 PLEKHA8 skos:exactMatch ncbigene:84725 semapv:UnspecifiedMatching +OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:21629 semapv:UnspecifiedMatching +OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:ZNF461 semapv:UnspecifiedMatching +OMIM:608640 ZNF461 skos:exactMatch ncbigene:92283 semapv:UnspecifiedMatching +OMIM:608641 deafness, autosomal dominant 28 skos:exactMatch MONDO:0012083 semapv:UnspecifiedMatching +OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:20149 semapv:UnspecifiedMatching +OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:PTGR2 semapv:UnspecifiedMatching +OMIM:608642 ZADH1 skos:exactMatch ncbigene:145482 semapv:UnspecifiedMatching +OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 semapv:UnspecifiedMatching +OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching +OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching +OMIM:608644 ciliary dyskinesia, primary, 3 skos:exactMatch MONDO:0012085 semapv:UnspecifiedMatching +OMIM:608645 deafness, autosomal dominant 31 skos:exactMatch MONDO:0012086 semapv:UnspecifiedMatching +OMIM:608646 ciliary dyskinesia, primary, 4 skos:exactMatch MONDO:0012087 semapv:UnspecifiedMatching +OMIM:608647 ciliary dyskinesia, primary, 5 skos:exactMatch MONDO:0012088 semapv:UnspecifiedMatching +OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:21082 semapv:UnspecifiedMatching +OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:SEC63 semapv:UnspecifiedMatching +OMIM:608648 SEC63 skos:exactMatch ncbigene:11231 semapv:UnspecifiedMatching +OMIM:608649 ichthyosis prematurity syndrome skos:exactMatch MONDO:0012089 semapv:UnspecifiedMatching +OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:13480 semapv:UnspecifiedMatching +OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:ULK2 semapv:UnspecifiedMatching +OMIM:608650 ULK2 skos:exactMatch ncbigene:9706 semapv:UnspecifiedMatching +OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:16922 semapv:UnspecifiedMatching +OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:AGAP1 semapv:UnspecifiedMatching +OMIM:608651 AGAP1 skos:exactMatch ncbigene:116987 semapv:UnspecifiedMatching +OMIM:608652 deafness, autosomal dominant 47 skos:exactMatch MONDO:0012090 semapv:UnspecifiedMatching +OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm skos:exactMatch MONDO:0012091 semapv:UnspecifiedMatching +OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 skos:exactMatch MONDO:0012092 semapv:UnspecifiedMatching +OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:4280 semapv:UnspecifiedMatching +OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:GJC1 semapv:UnspecifiedMatching +OMIM:608655 GJC1 skos:exactMatch ncbigene:10052 semapv:UnspecifiedMatching +OMIM:608656 prostate cancer, hereditary, 3 skos:exactMatch MONDO:0012093 semapv:UnspecifiedMatching +OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:17546 semapv:UnspecifiedMatching +OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:JDP2 semapv:UnspecifiedMatching +OMIM:608657 JDP2 skos:exactMatch ncbigene:122953 semapv:UnspecifiedMatching +OMIM:608658 prostate cancer, hereditary, 4 skos:exactMatch MONDO:0012094 semapv:UnspecifiedMatching +OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:22992 semapv:UnspecifiedMatching +OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:SENP8 semapv:UnspecifiedMatching +OMIM:608659 SENP8 skos:exactMatch ncbigene:123228 semapv:UnspecifiedMatching +OMIM:608660 INSIG2 skos:exactMatch UMLS:C1426946 semapv:UnspecifiedMatching +OMIM:608660 INSIG2 skos:exactMatch hgnc.symbol:20452 semapv:UnspecifiedMatching +OMIM:608660 INSIG2 skos:exactMatch hgnc.symbol:INSIG2 semapv:UnspecifiedMatching +OMIM:608660 INSIG2 skos:exactMatch ncbigene:51141 semapv:UnspecifiedMatching +OMIM:608661 PODN skos:exactMatch hgnc.symbol:23174 semapv:UnspecifiedMatching +OMIM:608661 PODN skos:exactMatch hgnc.symbol:PODN semapv:UnspecifiedMatching +OMIM:608661 PODN skos:exactMatch ncbigene:127435 semapv:UnspecifiedMatching +OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:27337 semapv:UnspecifiedMatching +OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:ANO5 semapv:UnspecifiedMatching +OMIM:608662 ANO5 skos:exactMatch ncbigene:203859 semapv:UnspecifiedMatching +OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:25240 semapv:UnspecifiedMatching +OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:ANO6 semapv:UnspecifiedMatching +OMIM:608663 ANO6 skos:exactMatch ncbigene:196527 semapv:UnspecifiedMatching +OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:17928 semapv:UnspecifiedMatching +OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:PSMC3IP semapv:UnspecifiedMatching +OMIM:608665 PSMC3IP skos:exactMatch ncbigene:29893 semapv:UnspecifiedMatching +OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:22965 semapv:UnspecifiedMatching +OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:PEX26 semapv:UnspecifiedMatching +OMIM:608666 PEX26 skos:exactMatch ncbigene:55670 semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch UMLS:C1538063 semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch hgnc.symbol:28862 semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch hgnc.symbol:NIPBL semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch ncbigene:25836 semapv:UnspecifiedMatching +OMIM:608668 ZMYND11 skos:exactMatch hgnc.symbol:16966 semapv:UnspecifiedMatching +OMIM:608668 ZMYND11 skos:exactMatch hgnc.symbol:ZMYND11 semapv:UnspecifiedMatching +OMIM:608668 ZMYND11 skos:exactMatch ncbigene:10771 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch UMLS:C1538958 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch UMLS:C5231427 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:30988 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:BNC2 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch ncbigene:54796 semapv:UnspecifiedMatching +OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly skos:exactMatch MONDO:0012095 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch UMLS:C1427196 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:20908 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:DZIP1 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch ncbigene:22873 semapv:UnspecifiedMatching +OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:30938 semapv:UnspecifiedMatching +OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:DZIP3 semapv:UnspecifiedMatching +OMIM:608672 DZIP3 skos:exactMatch ncbigene:9666 semapv:UnspecifiedMatching +OMIM:608673 charcot-marie-tooth disease, axonal, iia 2l skos:exactMatch MONDO:0012096 semapv:UnspecifiedMatching +OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:30418 semapv:UnspecifiedMatching +OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:SH3D19 semapv:UnspecifiedMatching +OMIM:608674 sh3 domain protein 19 skos:exactMatch ncbigene:152503 semapv:UnspecifiedMatching +OMIM:608675 FCSK skos:exactMatch hgnc.symbol:29500 semapv:UnspecifiedMatching +OMIM:608675 FCSK skos:exactMatch hgnc.symbol:FCSK semapv:UnspecifiedMatching +OMIM:608675 FCSK skos:exactMatch ncbigene:197258 semapv:UnspecifiedMatching +OMIM:608676 TXLNA skos:exactMatch hgnc.symbol:30685 semapv:UnspecifiedMatching +OMIM:608676 TXLNA skos:exactMatch hgnc.symbol:TXLNA semapv:UnspecifiedMatching +OMIM:608676 TXLNA skos:exactMatch ncbigene:200081 semapv:UnspecifiedMatching +OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:21086 semapv:UnspecifiedMatching +OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:MIB1 semapv:UnspecifiedMatching +OMIM:608677 MIB1 skos:exactMatch ncbigene:57534 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch UMLS:C1825595 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch hgnc.symbol:16028 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch hgnc.symbol:IL33 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch ncbigene:90865 semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch UMLS:C1540041 semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch UMLS:C4540270 semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:16197 semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:TP53RK semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch ncbigene:112858 semapv:UnspecifiedMatching +OMIM:608680 TPRKB skos:exactMatch hgnc.symbol:24259 semapv:UnspecifiedMatching +OMIM:608680 TPRKB skos:exactMatch hgnc.symbol:TPRKB semapv:UnspecifiedMatching +OMIM:608680 TPRKB skos:exactMatch ncbigene:51002 semapv:UnspecifiedMatching +OMIM:608681 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch MONDO:0012097 semapv:UnspecifiedMatching +OMIM:608682 ADM2 skos:exactMatch hgnc.symbol:28898 semapv:UnspecifiedMatching +OMIM:608682 ADM2 skos:exactMatch hgnc.symbol:ADM2 semapv:UnspecifiedMatching +OMIM:608682 ADM2 skos:exactMatch ncbigene:79924 semapv:UnspecifiedMatching +OMIM:608683 CST8 skos:exactMatch hgnc.symbol:2480 semapv:UnspecifiedMatching +OMIM:608683 CST8 skos:exactMatch hgnc.symbol:CST8 semapv:UnspecifiedMatching +OMIM:608683 CST8 skos:exactMatch ncbigene:10047 semapv:UnspecifiedMatching +OMIM:608684 NIN skos:exactMatch hgnc.symbol:14906 semapv:UnspecifiedMatching +OMIM:608684 NIN skos:exactMatch hgnc.symbol:NIN semapv:UnspecifiedMatching +OMIM:608684 NIN skos:exactMatch ncbigene:51199 semapv:UnspecifiedMatching +OMIM:608685 SMC1B skos:exactMatch hgnc.symbol:11112 semapv:UnspecifiedMatching +OMIM:608685 SMC1B skos:exactMatch hgnc.symbol:SMC1B semapv:UnspecifiedMatching +OMIM:608685 SMC1B skos:exactMatch ncbigene:27127 semapv:UnspecifiedMatching +OMIM:608686 RAB3IP skos:exactMatch hgnc.symbol:16508 semapv:UnspecifiedMatching +OMIM:608686 RAB3IP skos:exactMatch hgnc.symbol:RAB3IP semapv:UnspecifiedMatching +OMIM:608686 RAB3IP skos:exactMatch ncbigene:117177 semapv:UnspecifiedMatching +OMIM:608687 spinocerebellar ataxia 20 skos:exactMatch MONDO:0012098 semapv:UnspecifiedMatching +OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch MONDO:0012099 semapv:UnspecifiedMatching +OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch Orphanet:250977 semapv:UnspecifiedMatching +OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch UMLS:C1837530 semapv:UnspecifiedMatching +OMIM:608689 MESP1 skos:exactMatch hgnc.symbol:29658 semapv:UnspecifiedMatching +OMIM:608689 MESP1 skos:exactMatch hgnc.symbol:MESP1 semapv:UnspecifiedMatching +OMIM:608689 MESP1 skos:exactMatch ncbigene:55897 semapv:UnspecifiedMatching +OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:16509 semapv:UnspecifiedMatching +OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:SSX2IP semapv:UnspecifiedMatching +OMIM:608690 SSX2IP skos:exactMatch ncbigene:117178 semapv:UnspecifiedMatching +OMIM:608691 major depressive disorder 2 skos:exactMatch MONDO:0012100 semapv:UnspecifiedMatching +OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:1065 semapv:UnspecifiedMatching +OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:BLZF1 semapv:UnspecifiedMatching +OMIM:608692 BLZF1 skos:exactMatch ncbigene:8548 semapv:UnspecifiedMatching +OMIM:608693 GORASP2 skos:exactMatch hgnc.symbol:17500 semapv:UnspecifiedMatching +OMIM:608693 GORASP2 skos:exactMatch hgnc.symbol:GORASP2 semapv:UnspecifiedMatching +OMIM:608693 GORASP2 skos:exactMatch ncbigene:26003 semapv:UnspecifiedMatching +OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:30958 semapv:UnspecifiedMatching +OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:ZNF622 semapv:UnspecifiedMatching +OMIM:608694 ZNF622 skos:exactMatch ncbigene:90441 semapv:UnspecifiedMatching +OMIM:608695 glaucoma 1, open angle, j skos:exactMatch MONDO:0012101 semapv:UnspecifiedMatching +OMIM:608696 glaucoma 1, open angle, k skos:exactMatch MONDO:0012102 semapv:UnspecifiedMatching +OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:24669 semapv:UnspecifiedMatching +OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:FIGLA semapv:UnspecifiedMatching +OMIM:608697 FIGLA skos:exactMatch ncbigene:344018 semapv:UnspecifiedMatching +OMIM:608698 DCBLD2 skos:exactMatch hgnc.symbol:24627 semapv:UnspecifiedMatching +OMIM:608698 DCBLD2 skos:exactMatch hgnc.symbol:DCBLD2 semapv:UnspecifiedMatching +OMIM:608698 DCBLD2 skos:exactMatch ncbigene:131566 semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch UMLS:C1826624 semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch UMLS:C1842691 semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch hgnc.symbol:24154 semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch hgnc.symbol:BMPER semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch ncbigene:168667 semapv:UnspecifiedMatching +OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:17877 semapv:UnspecifiedMatching +OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:NMNAT1 semapv:UnspecifiedMatching +OMIM:608700 NMNAT1 skos:exactMatch ncbigene:64802 semapv:UnspecifiedMatching +OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:16789 semapv:UnspecifiedMatching +OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:NMNAT2 semapv:UnspecifiedMatching +OMIM:608701 NMNAT2 skos:exactMatch ncbigene:23057 semapv:UnspecifiedMatching +OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:20989 semapv:UnspecifiedMatching +OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:NMNAT3 semapv:UnspecifiedMatching +OMIM:608702 NMNAT3 skos:exactMatch ncbigene:349565 semapv:UnspecifiedMatching +OMIM:608703 spinocerebellar ataxia 25 skos:exactMatch MONDO:0012103 semapv:UnspecifiedMatching +OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:26057 semapv:UnspecifiedMatching +OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:NMRK1 semapv:UnspecifiedMatching +OMIM:608704 NMRK1 skos:exactMatch ncbigene:54981 semapv:UnspecifiedMatching +OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:17871 semapv:UnspecifiedMatching +OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:NMRK2 semapv:UnspecifiedMatching +OMIM:608705 ITGB1BP3 skos:exactMatch ncbigene:27231 semapv:UnspecifiedMatching +OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:21493 semapv:UnspecifiedMatching +OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:DNAAF4 semapv:UnspecifiedMatching +OMIM:608706 DNAAF4 skos:exactMatch ncbigene:161582 semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch UMLS:C1332740 semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch UMLS:C3280215 semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch hgnc.symbol:17104 semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch hgnc.symbol:CDON semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch ncbigene:50937 semapv:UnspecifiedMatching +OMIM:608708 BOC skos:exactMatch hgnc.symbol:17173 semapv:UnspecifiedMatching +OMIM:608708 BOC skos:exactMatch hgnc.symbol:BOC semapv:UnspecifiedMatching +OMIM:608708 BOC skos:exactMatch ncbigene:91653 semapv:UnspecifiedMatching +OMIM:608709 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch MONDO:0100476 semapv:UnspecifiedMatching +OMIM:608710 granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 semapv:UnspecifiedMatching +OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:17077 semapv:UnspecifiedMatching +OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:CTDSP2 semapv:UnspecifiedMatching +OMIM:608711 CTDSP2 skos:exactMatch ncbigene:10106 semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch UMLS:C1335289 semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:9682 semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:PTPRT semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch ncbigene:11122 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1427014 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch hgnc.symbol:20580 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch hgnc.symbol:CYP2R1 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch ncbigene:120227 semapv:UnspecifiedMatching +OMIM:608714 SNTG1 skos:exactMatch hgnc.symbol:13740 semapv:UnspecifiedMatching +OMIM:608714 SNTG1 skos:exactMatch hgnc.symbol:SNTG1 semapv:UnspecifiedMatching +OMIM:608714 SNTG1 skos:exactMatch ncbigene:54212 semapv:UnspecifiedMatching +OMIM:608715 SNTG2 skos:exactMatch hgnc.symbol:13741 semapv:UnspecifiedMatching +OMIM:608715 SNTG2 skos:exactMatch hgnc.symbol:SNTG2 semapv:UnspecifiedMatching +OMIM:608715 SNTG2 skos:exactMatch ncbigene:54221 semapv:UnspecifiedMatching +OMIM:608716 microcephaly 5, primary, autosomal recessive skos:exactMatch MONDO:0012106 semapv:UnspecifiedMatching +OMIM:608717 LGALS13 skos:exactMatch hgnc.symbol:15449 semapv:UnspecifiedMatching +OMIM:608717 LGALS13 skos:exactMatch hgnc.symbol:LGALS13 semapv:UnspecifiedMatching +OMIM:608717 LGALS13 skos:exactMatch ncbigene:29124 semapv:UnspecifiedMatching +OMIM:608718 KRTAP13-1 skos:exactMatch hgnc.symbol:18924 semapv:UnspecifiedMatching +OMIM:608718 KRTAP13-1 skos:exactMatch hgnc.symbol:KRTAP13-1 semapv:UnspecifiedMatching +OMIM:608718 KRTAP13-1 skos:exactMatch ncbigene:140258 semapv:UnspecifiedMatching +OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:30763 semapv:UnspecifiedMatching +OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:NR2C2AP semapv:UnspecifiedMatching +OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch ncbigene:126382 semapv:UnspecifiedMatching +OMIM:608720 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch MONDO:0012107 semapv:UnspecifiedMatching +OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:24197 semapv:UnspecifiedMatching +OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:CAMK2N2 semapv:UnspecifiedMatching +OMIM:608721 CAMK2N2 skos:exactMatch ncbigene:94032 semapv:UnspecifiedMatching +OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:24205 semapv:UnspecifiedMatching +OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:CAPZA3 semapv:UnspecifiedMatching +OMIM:608722 CAPZA3 skos:exactMatch ncbigene:93661 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch UMLS:C1538627 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:20990 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:PHACTR1 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch ncbigene:221692 semapv:UnspecifiedMatching +OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:20956 semapv:UnspecifiedMatching +OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:PHACTR2 semapv:UnspecifiedMatching +OMIM:608724 PHACTR2 skos:exactMatch ncbigene:9749 semapv:UnspecifiedMatching +OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:15833 semapv:UnspecifiedMatching +OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:PHACTR3 semapv:UnspecifiedMatching +OMIM:608725 PHACTR3 skos:exactMatch ncbigene:116154 semapv:UnspecifiedMatching +OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:25793 semapv:UnspecifiedMatching +OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:PHACTR4 semapv:UnspecifiedMatching +OMIM:608726 PHACTR4 skos:exactMatch ncbigene:65979 semapv:UnspecifiedMatching +OMIM:608727 DET1 skos:exactMatch UMLS:C1539273 semapv:UnspecifiedMatching +OMIM:608727 DET1 skos:exactMatch hgnc.symbol:25477 semapv:UnspecifiedMatching +OMIM:608727 DET1 skos:exactMatch hgnc.symbol:DET1 semapv:UnspecifiedMatching +OMIM:608727 DET1 skos:exactMatch ncbigene:55070 semapv:UnspecifiedMatching +OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch MONDO:0012108 semapv:UnspecifiedMatching +OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch Orphanet:156728 semapv:UnspecifiedMatching +OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching +OMIM:608729 AGTRAP skos:exactMatch hgnc.symbol:13539 semapv:UnspecifiedMatching +OMIM:608729 AGTRAP skos:exactMatch hgnc.symbol:AGTRAP semapv:UnspecifiedMatching +OMIM:608729 AGTRAP skos:exactMatch ncbigene:57085 semapv:UnspecifiedMatching +OMIM:608730 SLC39A5 skos:exactMatch hgnc.symbol:20502 semapv:UnspecifiedMatching +OMIM:608730 SLC39A5 skos:exactMatch hgnc.symbol:SLC39A5 semapv:UnspecifiedMatching +OMIM:608730 SLC39A5 skos:exactMatch ncbigene:283375 semapv:UnspecifiedMatching +OMIM:608731 SLC39A6 skos:exactMatch hgnc.symbol:18607 semapv:UnspecifiedMatching +OMIM:608731 SLC39A6 skos:exactMatch hgnc.symbol:SLC39A6 semapv:UnspecifiedMatching +OMIM:608731 SLC39A6 skos:exactMatch ncbigene:25800 semapv:UnspecifiedMatching +OMIM:608732 SLC39A8 skos:exactMatch hgnc.symbol:20862 semapv:UnspecifiedMatching +OMIM:608732 SLC39A8 skos:exactMatch hgnc.symbol:SLC39A8 semapv:UnspecifiedMatching +OMIM:608732 SLC39A8 skos:exactMatch ncbigene:64116 semapv:UnspecifiedMatching +OMIM:608733 SLC39A10 skos:exactMatch hgnc.symbol:20861 semapv:UnspecifiedMatching +OMIM:608733 SLC39A10 skos:exactMatch hgnc.symbol:SLC39A10 semapv:UnspecifiedMatching +OMIM:608733 SLC39A10 skos:exactMatch ncbigene:57181 semapv:UnspecifiedMatching +OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:20860 semapv:UnspecifiedMatching +OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:SLC39A12 semapv:UnspecifiedMatching +OMIM:608734 SLC39A12 skos:exactMatch ncbigene:221074 semapv:UnspecifiedMatching +OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:20859 semapv:UnspecifiedMatching +OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:SLC39A13 semapv:UnspecifiedMatching +OMIM:608735 SLC39A13 skos:exactMatch ncbigene:91252 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1427165 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1840404 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:20858 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:SLC39A14 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch ncbigene:23516 semapv:UnspecifiedMatching +OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:30265 semapv:UnspecifiedMatching +OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:RAB11FIP1 semapv:UnspecifiedMatching +OMIM:608737 RAB11FIP1 skos:exactMatch ncbigene:80223 semapv:UnspecifiedMatching +OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:17224 semapv:UnspecifiedMatching +OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:RAB11FIP3 semapv:UnspecifiedMatching +OMIM:608738 RAB11FIP3 skos:exactMatch ncbigene:9727 semapv:UnspecifiedMatching +OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:23994 semapv:UnspecifiedMatching +OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:ERI1 semapv:UnspecifiedMatching +OMIM:608739 ERI1 skos:exactMatch ncbigene:90459 semapv:UnspecifiedMatching +OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:29872 semapv:UnspecifiedMatching +OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:NFAM1 semapv:UnspecifiedMatching +OMIM:608740 NFAM1 skos:exactMatch ncbigene:150372 semapv:UnspecifiedMatching +OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:19239 semapv:UnspecifiedMatching +OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:SYT11 semapv:UnspecifiedMatching +OMIM:608741 SYT11 skos:exactMatch ncbigene:23208 semapv:UnspecifiedMatching +OMIM:608742 hypertension, essential, susceptibility to, 4 skos:exactMatch MONDO:0012109 semapv:UnspecifiedMatching +OMIM:608743 JSRP1 skos:exactMatch UMLS:C1825641 semapv:UnspecifiedMatching +OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:24963 semapv:UnspecifiedMatching +OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:JSRP1 semapv:UnspecifiedMatching +OMIM:608743 JSRP1 skos:exactMatch ncbigene:126306 semapv:UnspecifiedMatching +OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:20662 semapv:UnspecifiedMatching +OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:SLC25A24 semapv:UnspecifiedMatching +OMIM:608744 SLC25A24 skos:exactMatch ncbigene:29957 semapv:UnspecifiedMatching +OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:20663 semapv:UnspecifiedMatching +OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:SLC25A25 semapv:UnspecifiedMatching +OMIM:608745 SLC25A25 skos:exactMatch ncbigene:114789 semapv:UnspecifiedMatching +OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:19375 semapv:UnspecifiedMatching +OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:SLC25A23 semapv:UnspecifiedMatching +OMIM:608746 SLC25A23 skos:exactMatch ncbigene:79085 semapv:UnspecifiedMatching +OMIM:608747 insulin-like growth factor 1 deficiency skos:exactMatch MONDO:0012110 semapv:UnspecifiedMatching +OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:20869 semapv:UnspecifiedMatching +OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:BMP10 semapv:UnspecifiedMatching +OMIM:608748 BMP10 skos:exactMatch ncbigene:27302 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch UMLS:C1422073 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:13575 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:BRD4 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch ncbigene:23476 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch UMLS:C1427879 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch UMLS:C1832736 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:23056 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:ALG3 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch ncbigene:10195 semapv:UnspecifiedMatching +OMIM:608751 cardiomyopathy, familial hypertrophic, 8 skos:exactMatch MONDO:0012111 semapv:UnspecifiedMatching +OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:14344 semapv:UnspecifiedMatching +OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:C1QTNF5 semapv:UnspecifiedMatching +OMIM:608752 C1QTNF5 skos:exactMatch ncbigene:114902 semapv:UnspecifiedMatching +OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:28422 semapv:UnspecifiedMatching +OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:TSEN2 semapv:UnspecifiedMatching +OMIM:608753 TSEN2 skos:exactMatch ncbigene:80746 semapv:UnspecifiedMatching +OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:15506 semapv:UnspecifiedMatching +OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:TSEN34 semapv:UnspecifiedMatching +OMIM:608754 TSEN34 skos:exactMatch ncbigene:79042 semapv:UnspecifiedMatching +OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:27561 semapv:UnspecifiedMatching +OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:TSEN54 semapv:UnspecifiedMatching +OMIM:608755 TSEN54 skos:exactMatch ncbigene:283989 semapv:UnspecifiedMatching +OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:16791 semapv:UnspecifiedMatching +OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:TSEN15 semapv:UnspecifiedMatching +OMIM:608756 TSEN15 skos:exactMatch ncbigene:116461 semapv:UnspecifiedMatching +OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:16999 semapv:UnspecifiedMatching +OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:CLP1 semapv:UnspecifiedMatching +OMIM:608757 CLP1 skos:exactMatch ncbigene:10978 semapv:UnspecifiedMatching +OMIM:608758 cardiomyopathy, familial hypertrophic, 10 skos:exactMatch MONDO:0012112 semapv:UnspecifiedMatching +OMIM:608759 CYGB skos:exactMatch hgnc.symbol:16505 semapv:UnspecifiedMatching +OMIM:608759 CYGB skos:exactMatch hgnc.symbol:CYGB semapv:UnspecifiedMatching +OMIM:608759 CYGB skos:exactMatch ncbigene:114757 semapv:UnspecifiedMatching +OMIM:608760 ATG7 skos:exactMatch UMLS:C1825498 semapv:UnspecifiedMatching +OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:16935 semapv:UnspecifiedMatching +OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:ATG7 semapv:UnspecifiedMatching +OMIM:608760 ATG7 skos:exactMatch ncbigene:10533 semapv:UnspecifiedMatching +OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:14025 semapv:UnspecifiedMatching +OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:SLC5A7 semapv:UnspecifiedMatching +OMIM:608761 SLC5A7 skos:exactMatch ncbigene:60482 semapv:UnspecifiedMatching +OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch MONDO:0012113 semapv:UnspecifiedMatching +OMIM:608763 ehlers-danlos syndrome, beasley-cohen iia skos:exactMatch MONDO:0012114 semapv:UnspecifiedMatching +OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:30092 semapv:UnspecifiedMatching +OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:NAMPT semapv:UnspecifiedMatching +OMIM:608764 NAMPT skos:exactMatch ncbigene:10135 semapv:UnspecifiedMatching +OMIM:608765 scoliosis, isolated, susceptibility to, 3 skos:exactMatch MONDO:0012115 semapv:UnspecifiedMatching +OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:6693 semapv:UnspecifiedMatching +OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:LRP1B semapv:UnspecifiedMatching +OMIM:608766 LRP1B skos:exactMatch ncbigene:53353 semapv:UnspecifiedMatching +OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:16933 semapv:UnspecifiedMatching +OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:FEM1C semapv:UnspecifiedMatching +OMIM:608767 FEM1C skos:exactMatch ncbigene:56929 semapv:UnspecifiedMatching +OMIM:608768 spinocerebellar ataxia 8 skos:exactMatch MONDO:0012116 semapv:UnspecifiedMatching +OMIM:608769 PDHX skos:exactMatch hgnc.symbol:21350 semapv:UnspecifiedMatching +OMIM:608769 PDHX skos:exactMatch hgnc.symbol:PDHX semapv:UnspecifiedMatching +OMIM:608769 PDHX skos:exactMatch ncbigene:8050 semapv:UnspecifiedMatching +OMIM:608770 DLAT skos:exactMatch hgnc.symbol:2896 semapv:UnspecifiedMatching +OMIM:608770 DLAT skos:exactMatch hgnc.symbol:DLAT semapv:UnspecifiedMatching +OMIM:608770 DLAT skos:exactMatch ncbigene:1737 semapv:UnspecifiedMatching +OMIM:608771 MED13L skos:exactMatch hgnc.symbol:22962 semapv:UnspecifiedMatching +OMIM:608771 MED13L skos:exactMatch hgnc.symbol:MED13L semapv:UnspecifiedMatching +OMIM:608771 MED13L skos:exactMatch ncbigene:23389 semapv:UnspecifiedMatching +OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:25715 semapv:UnspecifiedMatching +OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:MIIP semapv:UnspecifiedMatching +OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch ncbigene:60672 semapv:UnspecifiedMatching +OMIM:608773 TPPP skos:exactMatch hgnc.symbol:24164 semapv:UnspecifiedMatching +OMIM:608773 TPPP skos:exactMatch hgnc.symbol:TPPP semapv:UnspecifiedMatching +OMIM:608773 TPPP skos:exactMatch ncbigene:11076 semapv:UnspecifiedMatching +OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:21027 semapv:UnspecifiedMatching +OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:ANKK1 semapv:UnspecifiedMatching +OMIM:608774 ANKK1 skos:exactMatch ncbigene:255239 semapv:UnspecifiedMatching +OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:25174 semapv:UnspecifiedMatching +OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:HAUS1 semapv:UnspecifiedMatching +OMIM:608775 HAUS1 skos:exactMatch ncbigene:115106 semapv:UnspecifiedMatching +OMIM:608776 congenital disorder of glycosylation, iia il skos:exactMatch MONDO:0012117 semapv:UnspecifiedMatching +OMIM:608777 POSTN skos:exactMatch hgnc.symbol:16953 semapv:UnspecifiedMatching +OMIM:608777 POSTN skos:exactMatch hgnc.symbol:POSTN semapv:UnspecifiedMatching +OMIM:608777 POSTN skos:exactMatch ncbigene:10631 semapv:UnspecifiedMatching +OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:18829 semapv:UnspecifiedMatching +OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:KLHL10 semapv:UnspecifiedMatching +OMIM:608778 KLHL10 skos:exactMatch ncbigene:317719 semapv:UnspecifiedMatching +OMIM:608779 congenital disorder of glycosylation, iia iie skos:exactMatch MONDO:0012118 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch UMLS:C1539623 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:21157 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:GTF2H5 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch ncbigene:404672 semapv:UnspecifiedMatching +OMIM:608781 asperger syndrome, susceptibility to, 3 skos:exactMatch MONDO:0012119 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch MONDO:0012120 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching +OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:15513 semapv:UnspecifiedMatching +OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:SMYD3 semapv:UnspecifiedMatching +OMIM:608783 SMYD3 skos:exactMatch ncbigene:64754 semapv:UnspecifiedMatching +OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:18474 semapv:UnspecifiedMatching +OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:ZDHHC8 semapv:UnspecifiedMatching +OMIM:608784 ZDHHC8 skos:exactMatch ncbigene:29801 semapv:UnspecifiedMatching +OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:30406 semapv:UnspecifiedMatching +OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:HTRA3 semapv:UnspecifiedMatching +OMIM:608785 HTRA3 skos:exactMatch ncbigene:94031 semapv:UnspecifiedMatching +OMIM:608786 PC skos:exactMatch hgnc.symbol:8636 semapv:UnspecifiedMatching +OMIM:608786 PC skos:exactMatch hgnc.symbol:PC semapv:UnspecifiedMatching +OMIM:608786 PC skos:exactMatch ncbigene:5091 semapv:UnspecifiedMatching +OMIM:608787 otosclerosis 5 skos:exactMatch MONDO:0012121 semapv:UnspecifiedMatching +OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:29846 semapv:UnspecifiedMatching +OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:SOCS7 semapv:UnspecifiedMatching +OMIM:608788 SOCS7 skos:exactMatch ncbigene:30837 semapv:UnspecifiedMatching +OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:29847 semapv:UnspecifiedMatching +OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:NCKAP5 semapv:UnspecifiedMatching +OMIM:608789 NCKAP5 skos:exactMatch ncbigene:344148 semapv:UnspecifiedMatching +OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:30781 semapv:UnspecifiedMatching +OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:TADA2B semapv:UnspecifiedMatching +OMIM:608790 TADA2B skos:exactMatch ncbigene:93624 semapv:UnspecifiedMatching +OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:25179 semapv:UnspecifiedMatching +OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:NXNL1 semapv:UnspecifiedMatching +OMIM:608791 NXNL1 skos:exactMatch ncbigene:115861 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch UMLS:C1825353 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:18183 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:GIPC3 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch ncbigene:126326 semapv:UnspecifiedMatching +OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:30615 semapv:UnspecifiedMatching +OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:SPECC1 semapv:UnspecifiedMatching +OMIM:608793 SPECC1 skos:exactMatch ncbigene:92521 semapv:UnspecifiedMatching +OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:9003 semapv:UnspecifiedMatching +OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:PITPNM1 semapv:UnspecifiedMatching +OMIM:608794 PITPNM1 skos:exactMatch ncbigene:9600 semapv:UnspecifiedMatching +OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:9061 semapv:UnspecifiedMatching +OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:PLCD3 semapv:UnspecifiedMatching +OMIM:608795 PLCD3 skos:exactMatch ncbigene:113026 semapv:UnspecifiedMatching +OMIM:608796 moyamoya disease 3 skos:exactMatch MONDO:0012122 semapv:UnspecifiedMatching +OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:28613 semapv:UnspecifiedMatching +OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:MEI1 semapv:UnspecifiedMatching +OMIM:608797 MEI1 skos:exactMatch ncbigene:150365 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch UMLS:C1414006 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch hgnc.symbol:2810 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch hgnc.symbol:GSDME semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch ncbigene:1687 semapv:UnspecifiedMatching +OMIM:608799 congenital disorder of glycosylation, iia ie skos:exactMatch MONDO:0012123 semapv:UnspecifiedMatching +OMIM:608800 sudden infant death with dysgenesis of the testes syndrome skos:exactMatch MONDO:0012124 semapv:UnspecifiedMatching +OMIM:608801 GCDH skos:exactMatch hgnc.symbol:4189 semapv:UnspecifiedMatching +OMIM:608801 GCDH skos:exactMatch hgnc.symbol:GCDH semapv:UnspecifiedMatching +OMIM:608801 GCDH skos:exactMatch ncbigene:2639 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch UMLS:C1423822 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:15905 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:L3MBTL1 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch ncbigene:26013 semapv:UnspecifiedMatching +OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:17494 semapv:UnspecifiedMatching +OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:GJC2 semapv:UnspecifiedMatching +OMIM:608803 GJC2 skos:exactMatch ncbigene:57165 semapv:UnspecifiedMatching +OMIM:608804 leukodystrophy, hypomyelinating, 2 skos:exactMatch MONDO:0012125 semapv:UnspecifiedMatching +OMIM:608805 avascular necrosis of femoral head, primary, 1 skos:exactMatch MONDO:0054550 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch UMLS:C1826340 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:23219 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:NAALADL2 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch ncbigene:254827 semapv:UnspecifiedMatching +OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 skos:exactMatch MONDO:0012127 semapv:UnspecifiedMatching +OMIM:608808 transposition of the great arteries, dextro-looped skos:exactMatch MONDO:0012128 semapv:UnspecifiedMatching +OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch MONDO:0012129 semapv:UnspecifiedMatching +OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch MONDO:0012130 semapv:UnspecifiedMatching +OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch Orphanet:399058 semapv:UnspecifiedMatching +OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching +OMIM:608811 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch MONDO:0012131 semapv:UnspecifiedMatching +OMIM:608812 colorectal cancer, susceptibility to, 1 skos:exactMatch MONDO:0012132 semapv:UnspecifiedMatching +OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:28454 semapv:UnspecifiedMatching +OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:DERL1 semapv:UnspecifiedMatching +OMIM:608813 DERL1 skos:exactMatch ncbigene:79139 semapv:UnspecifiedMatching +OMIM:608814 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch MONDO:0012133 semapv:UnspecifiedMatching +OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:16406 semapv:UnspecifiedMatching +OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:EFHC1 semapv:UnspecifiedMatching +OMIM:608815 EFHC1 skos:exactMatch ncbigene:114327 semapv:UnspecifiedMatching +OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch MONDO:0012134 semapv:UnspecifiedMatching +OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:29317 semapv:UnspecifiedMatching +OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:LRRC4C semapv:UnspecifiedMatching +OMIM:608817 LRRC4C skos:exactMatch ncbigene:57689 semapv:UnspecifiedMatching +OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:23319 semapv:UnspecifiedMatching +OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:NTNG1 semapv:UnspecifiedMatching +OMIM:608818 NTNG1 skos:exactMatch ncbigene:22854 semapv:UnspecifiedMatching +OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:16772 semapv:UnspecifiedMatching +OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:KRTAP1-1 semapv:UnspecifiedMatching +OMIM:608819 KRTAP1-1 skos:exactMatch ncbigene:81851 semapv:UnspecifiedMatching +OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:16771 semapv:UnspecifiedMatching +OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:KRTAP1-3 semapv:UnspecifiedMatching +OMIM:608820 KRTAP1-3 skos:exactMatch ncbigene:81850 semapv:UnspecifiedMatching +OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:18904 semapv:UnspecifiedMatching +OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:KRTAP1-4 semapv:UnspecifiedMatching +OMIM:608821 KRTAP1-4 skos:exactMatch ncbigene:728255 semapv:UnspecifiedMatching +OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:16777 semapv:UnspecifiedMatching +OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:KRTAP1-5 semapv:UnspecifiedMatching +OMIM:608822 KRTAP1-5 skos:exactMatch ncbigene:83895 semapv:UnspecifiedMatching +OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:16721 semapv:UnspecifiedMatching +OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:CGB1 semapv:UnspecifiedMatching +OMIM:608823 CGB1 skos:exactMatch ncbigene:114335 semapv:UnspecifiedMatching +OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:16722 semapv:UnspecifiedMatching +OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:CGB2 semapv:UnspecifiedMatching +OMIM:608824 CGB2 skos:exactMatch ncbigene:114336 semapv:UnspecifiedMatching +OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:16452 semapv:UnspecifiedMatching +OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:CGB5 semapv:UnspecifiedMatching +OMIM:608825 CGB5 skos:exactMatch ncbigene:93659 semapv:UnspecifiedMatching +OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:16451 semapv:UnspecifiedMatching +OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:CGB7 semapv:UnspecifiedMatching +OMIM:608826 CGB7 skos:exactMatch ncbigene:94027 semapv:UnspecifiedMatching +OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:16453 semapv:UnspecifiedMatching +OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:CGB8 semapv:UnspecifiedMatching +OMIM:608827 CGB8 skos:exactMatch ncbigene:94115 semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:17904 semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:DROSHA semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch ncbigene:29102 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch UMLS:C1539897 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:21181 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:SUMO4 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch ncbigene:387082 semapv:UnspecifiedMatching +OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:19977 semapv:UnspecifiedMatching +OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:RDH12 semapv:UnspecifiedMatching +OMIM:608830 RDH12 skos:exactMatch ncbigene:145226 semapv:UnspecifiedMatching +OMIM:608831 restless legs syndrome, susceptibility to, 2 skos:exactMatch MONDO:0012135 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch UMLS:C1539615 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:17655 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:GREM2 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch ncbigene:64388 semapv:UnspecifiedMatching +OMIM:608833 RTEL1 skos:exactMatch hgnc.symbol:15888 semapv:UnspecifiedMatching +OMIM:608833 RTEL1 skos:exactMatch hgnc.symbol:RTEL1 semapv:UnspecifiedMatching +OMIM:608833 RTEL1 skos:exactMatch ncbigene:51750 semapv:UnspecifiedMatching +OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:23720 semapv:UnspecifiedMatching +OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:CREB3L2 semapv:UnspecifiedMatching +OMIM:608834 CREB3L2 skos:exactMatch ncbigene:64764 semapv:UnspecifiedMatching +OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:16022 semapv:UnspecifiedMatching +OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:ABCC13 semapv:UnspecifiedMatching +OMIM:608835 ABCC13 skos:exactMatch ncbigene:150000 semapv:UnspecifiedMatching +OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal skos:exactMatch MONDO:0012136 semapv:UnspecifiedMatching +OMIM:608837 carney complex variant skos:exactMatch MONDO:0012137 semapv:UnspecifiedMatching +OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:21492 semapv:UnspecifiedMatching +OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:VKORC1L1 semapv:UnspecifiedMatching +OMIM:608838 VKORC1L1 skos:exactMatch ncbigene:154807 semapv:UnspecifiedMatching +OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:13249 semapv:UnspecifiedMatching +OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:CAPN12 semapv:UnspecifiedMatching +OMIM:608839 CAPN12 skos:exactMatch ncbigene:147968 semapv:UnspecifiedMatching +OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch MONDO:0012138 semapv:UnspecifiedMatching +OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:98894 semapv:UnspecifiedMatching +OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching +OMIM:608841 CPAMD8 skos:exactMatch hgnc.symbol:23228 semapv:UnspecifiedMatching +OMIM:608841 CPAMD8 skos:exactMatch hgnc.symbol:CPAMD8 semapv:UnspecifiedMatching +OMIM:608841 CPAMD8 skos:exactMatch ncbigene:27151 semapv:UnspecifiedMatching +OMIM:608842 CHCHD1 skos:exactMatch hgnc.symbol:23518 semapv:UnspecifiedMatching +OMIM:608842 CHCHD1 skos:exactMatch hgnc.symbol:CHCHD1 semapv:UnspecifiedMatching +OMIM:608842 CHCHD1 skos:exactMatch ncbigene:118487 semapv:UnspecifiedMatching +OMIM:608843 vasorin skos:exactMatch hgnc.symbol:18517 semapv:UnspecifiedMatching +OMIM:608843 vasorin skos:exactMatch hgnc.symbol:VASN semapv:UnspecifiedMatching +OMIM:608843 vasorin skos:exactMatch ncbigene:114990 semapv:UnspecifiedMatching +OMIM:608844 NEIL1 skos:exactMatch hgnc.symbol:18448 semapv:UnspecifiedMatching +OMIM:608844 NEIL1 skos:exactMatch hgnc.symbol:NEIL1 semapv:UnspecifiedMatching +OMIM:608844 NEIL1 skos:exactMatch ncbigene:79661 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch UMLS:C1421880 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:13210 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:ARL6 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch ncbigene:84100 semapv:UnspecifiedMatching +OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:18540 semapv:UnspecifiedMatching +OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:CPT1C semapv:UnspecifiedMatching +OMIM:608846 CPT1C skos:exactMatch ncbigene:126129 semapv:UnspecifiedMatching +OMIM:608847 FTMT skos:exactMatch hgnc.symbol:17345 semapv:UnspecifiedMatching +OMIM:608847 FTMT skos:exactMatch hgnc.symbol:FTMT semapv:UnspecifiedMatching +OMIM:608847 FTMT skos:exactMatch ncbigene:94033 semapv:UnspecifiedMatching +OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:20851 semapv:UnspecifiedMatching +OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:FNBP1L semapv:UnspecifiedMatching +OMIM:608848 FNBP1L skos:exactMatch ncbigene:54874 semapv:UnspecifiedMatching +OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:19683 semapv:UnspecifiedMatching +OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:UHMK1 semapv:UnspecifiedMatching +OMIM:608849 UHMK1 skos:exactMatch ncbigene:127933 semapv:UnspecifiedMatching +OMIM:608850 macular dystrophy, retinal, 3 skos:exactMatch MONDO:0012139 semapv:UnspecifiedMatching +OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:12836 semapv:UnspecifiedMatching +OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:XRN2 semapv:UnspecifiedMatching +OMIM:608851 XRN2 skos:exactMatch ncbigene:22803 semapv:UnspecifiedMatching +OMIM:608852 pulmonary function skos:exactMatch MONDO:0012140 semapv:UnspecifiedMatching +OMIM:608853 BLID skos:exactMatch hgnc.symbol:33495 semapv:UnspecifiedMatching +OMIM:608853 BLID skos:exactMatch hgnc.symbol:BLID semapv:UnspecifiedMatching +OMIM:608853 BLID skos:exactMatch ncbigene:414899 semapv:UnspecifiedMatching +OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:29971 semapv:UnspecifiedMatching +OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:OSCP1 semapv:UnspecifiedMatching +OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch ncbigene:127700 semapv:UnspecifiedMatching +OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:13877 semapv:UnspecifiedMatching +OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:TTYH2 semapv:UnspecifiedMatching +OMIM:608855 TTYH2 skos:exactMatch ncbigene:94015 semapv:UnspecifiedMatching +OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:24346 semapv:UnspecifiedMatching +OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:CTAGE1 semapv:UnspecifiedMatching +OMIM:608856 CTAGE1 skos:exactMatch ncbigene:64693 semapv:UnspecifiedMatching +OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:24348 semapv:UnspecifiedMatching +OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:CTAGE3P semapv:UnspecifiedMatching +OMIM:608857 CTAGE3 skos:exactMatch ncbigene:220112 semapv:UnspecifiedMatching +OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:23098 semapv:UnspecifiedMatching +OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:FGFR1OP2 semapv:UnspecifiedMatching +OMIM:608858 FGFR1OP2 skos:exactMatch ncbigene:26127 semapv:UnspecifiedMatching +OMIM:608859 CD109 skos:exactMatch hgnc.symbol:21685 semapv:UnspecifiedMatching +OMIM:608859 CD109 skos:exactMatch hgnc.symbol:CD109 semapv:UnspecifiedMatching +OMIM:608859 CD109 skos:exactMatch ncbigene:135228 semapv:UnspecifiedMatching +OMIM:608860 ASTL skos:exactMatch hgnc.symbol:31704 semapv:UnspecifiedMatching +OMIM:608860 ASTL skos:exactMatch hgnc.symbol:ASTL semapv:UnspecifiedMatching +OMIM:608860 ASTL skos:exactMatch ncbigene:431705 semapv:UnspecifiedMatching +OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:18303 semapv:UnspecifiedMatching +OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:ATP6V1H semapv:UnspecifiedMatching +OMIM:608861 ATP6V1H skos:exactMatch ncbigene:51606 semapv:UnspecifiedMatching +OMIM:608862 NAXE skos:exactMatch hgnc.symbol:18453 semapv:UnspecifiedMatching +OMIM:608862 NAXE skos:exactMatch hgnc.symbol:NAXE semapv:UnspecifiedMatching +OMIM:608862 NAXE skos:exactMatch ncbigene:128240 semapv:UnspecifiedMatching +OMIM:608863 PDPN skos:exactMatch hgnc.symbol:29602 semapv:UnspecifiedMatching +OMIM:608863 PDPN skos:exactMatch hgnc.symbol:PDPN semapv:UnspecifiedMatching +OMIM:608863 PDPN skos:exactMatch ncbigene:10630 semapv:UnspecifiedMatching +OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch MONDO:0012141 semapv:UnspecifiedMatching +OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch UMLS:C1837213 semapv:UnspecifiedMatching +OMIM:608865 URB1 skos:exactMatch hgnc.symbol:17344 semapv:UnspecifiedMatching +OMIM:608865 URB1 skos:exactMatch hgnc.symbol:URB1 semapv:UnspecifiedMatching +OMIM:608865 URB1 skos:exactMatch ncbigene:9875 semapv:UnspecifiedMatching +OMIM:608866 FRA10AC1 skos:exactMatch hgnc.symbol:1162 semapv:UnspecifiedMatching +OMIM:608866 FRA10AC1 skos:exactMatch hgnc.symbol:FRA10AC1 semapv:UnspecifiedMatching +OMIM:608866 FRA10AC1 skos:exactMatch ncbigene:118924 semapv:UnspecifiedMatching +OMIM:608867 DUSP10 skos:exactMatch hgnc.symbol:3065 semapv:UnspecifiedMatching +OMIM:608867 DUSP10 skos:exactMatch hgnc.symbol:DUSP10 semapv:UnspecifiedMatching +OMIM:608867 DUSP10 skos:exactMatch ncbigene:11221 semapv:UnspecifiedMatching +OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:17360 semapv:UnspecifiedMatching +OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:LRIG1 semapv:UnspecifiedMatching +OMIM:608868 LRIG1 skos:exactMatch ncbigene:26018 semapv:UnspecifiedMatching +OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:20889 semapv:UnspecifiedMatching +OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:LRIG2 semapv:UnspecifiedMatching +OMIM:608869 LRIG2 skos:exactMatch ncbigene:9860 semapv:UnspecifiedMatching +OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:30991 semapv:UnspecifiedMatching +OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:LRIG3 semapv:UnspecifiedMatching +OMIM:608870 LRIG3 skos:exactMatch ncbigene:121227 semapv:UnspecifiedMatching +OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:23619 semapv:UnspecifiedMatching +OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:NIPSNAP3A semapv:UnspecifiedMatching +OMIM:608871 NIPSNAP3A skos:exactMatch ncbigene:25934 semapv:UnspecifiedMatching +OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:23641 semapv:UnspecifiedMatching +OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:NIPSNAP3B semapv:UnspecifiedMatching +OMIM:608872 NIPSNAP3B skos:exactMatch ncbigene:55335 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch UMLS:C1419957 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:10739 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:SEMA6B semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch ncbigene:10501 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch MONDO:0012142 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch UMLS:C1826547 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:30097 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:PCF11 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch ncbigene:51585 semapv:UnspecifiedMatching +OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:23595 semapv:UnspecifiedMatching +OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:VPS13D semapv:UnspecifiedMatching +OMIM:608877 VPS13D skos:exactMatch ncbigene:55187 semapv:UnspecifiedMatching +OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:23594 semapv:UnspecifiedMatching +OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:VPS13C semapv:UnspecifiedMatching +OMIM:608879 VPS13C skos:exactMatch ncbigene:54832 semapv:UnspecifiedMatching +OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:20756 semapv:UnspecifiedMatching +OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:ZFYVE16 semapv:UnspecifiedMatching +OMIM:608880 ZFYVE16 skos:exactMatch ncbigene:9765 semapv:UnspecifiedMatching +OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:24693 semapv:UnspecifiedMatching +OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:MICAL2 semapv:UnspecifiedMatching +OMIM:608881 MICAL2 skos:exactMatch ncbigene:9645 semapv:UnspecifiedMatching +OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:24694 semapv:UnspecifiedMatching +OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:MICAL3 semapv:UnspecifiedMatching +OMIM:608882 MICAL3 skos:exactMatch ncbigene:57553 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C1425072 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:17770 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:RALGAPA1 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch ncbigene:253959 semapv:UnspecifiedMatching +OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects skos:exactMatch MONDO:0012143 semapv:UnspecifiedMatching +OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:30022 semapv:UnspecifiedMatching +OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:PPARGC1B semapv:UnspecifiedMatching +OMIM:608886 PPARGC1B skos:exactMatch ncbigene:133522 semapv:UnspecifiedMatching +OMIM:608887 PURB skos:exactMatch hgnc.symbol:9702 semapv:UnspecifiedMatching +OMIM:608887 PURB skos:exactMatch hgnc.symbol:PURB semapv:UnspecifiedMatching +OMIM:608887 PURB skos:exactMatch ncbigene:5814 semapv:UnspecifiedMatching +OMIM:608888 RBM45 skos:exactMatch hgnc.symbol:24468 semapv:UnspecifiedMatching +OMIM:608888 RBM45 skos:exactMatch hgnc.symbol:RBM45 semapv:UnspecifiedMatching +OMIM:608888 RBM45 skos:exactMatch ncbigene:129831 semapv:UnspecifiedMatching +OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:19288 semapv:UnspecifiedMatching +OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:ACMSD semapv:UnspecifiedMatching +OMIM:608889 ACMSD skos:exactMatch ncbigene:130013 semapv:UnspecifiedMatching +OMIM:608890 skos:exactMatch MONDO:0012144 semapv:UnspecifiedMatching +OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:8111 semapv:UnspecifiedMatching +OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:OSR1 semapv:UnspecifiedMatching +OMIM:608891 OSR1 skos:exactMatch ncbigene:130497 semapv:UnspecifiedMatching +OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:20626 semapv:UnspecifiedMatching +OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:CHD7 semapv:UnspecifiedMatching +OMIM:608892 CHD7 skos:exactMatch ncbigene:55636 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0543541 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch UMLS:C1428660 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch UMLS:C3148959 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:27960 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:SLC6A19 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch ncbigene:340024 semapv:UnspecifiedMatching +OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:21575 semapv:UnspecifiedMatching +OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:AHI1 semapv:UnspecifiedMatching +OMIM:608894 AHI1 skos:exactMatch ncbigene:54806 semapv:UnspecifiedMatching +OMIM:608895 macular degeneration, age-related, 3 skos:exactMatch MONDO:0012145 semapv:UnspecifiedMatching +OMIM:608896 SGCG skos:exactMatch hgnc.symbol:10809 semapv:UnspecifiedMatching +OMIM:608896 SGCG skos:exactMatch hgnc.symbol:SGCG semapv:UnspecifiedMatching +OMIM:608896 SGCG skos:exactMatch ncbigene:6445 semapv:UnspecifiedMatching +OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:23147 semapv:UnspecifiedMatching +OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:UNC13D semapv:UnspecifiedMatching +OMIM:608897 UNC13D skos:exactMatch ncbigene:201294 semapv:UnspecifiedMatching +OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch MONDO:0012146 semapv:UnspecifiedMatching +OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch UMLS:C1837174 semapv:UnspecifiedMatching +OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc.symbol:30775 semapv:UnspecifiedMatching +OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc.symbol:GTF2IRD2 semapv:UnspecifiedMatching +OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch ncbigene:84163 semapv:UnspecifiedMatching +OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:33125 semapv:UnspecifiedMatching +OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:GTF2IRD2B semapv:UnspecifiedMatching +OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch ncbigene:389524 semapv:UnspecifiedMatching +OMIM:608901 coronary heart disease, susceptibility to, 5 skos:exactMatch MONDO:0012147 semapv:UnspecifiedMatching +OMIM:608902 drug metabolism, poor, cyp2d6-related skos:exactMatch MONDO:0012148 semapv:UnspecifiedMatching +OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch MONDO:0012149 semapv:UnspecifiedMatching +OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch MONDO:0012150 semapv:UnspecifiedMatching +OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch MONDO:0012151 semapv:UnspecifiedMatching +OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch MONDO:0012152 semapv:UnspecifiedMatching +OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch MONDO:0012153 semapv:UnspecifiedMatching +OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C1837149 semapv:UnspecifiedMatching +OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching +OMIM:608908 myopia 6 skos:exactMatch MONDO:0012154 semapv:UnspecifiedMatching +OMIM:608909 ARL5B skos:exactMatch UMLS:C1824206 semapv:UnspecifiedMatching +OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:23052 semapv:UnspecifiedMatching +OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:ARL5B semapv:UnspecifiedMatching +OMIM:608909 ARL5B skos:exactMatch ncbigene:221079 semapv:UnspecifiedMatching +OMIM:608910 CTAGE4 skos:exactMatch hgnc.symbol:24772 semapv:UnspecifiedMatching +OMIM:608910 CTAGE4 skos:exactMatch hgnc.symbol:CTAGE4 semapv:UnspecifiedMatching +OMIM:608910 CTAGE4 skos:exactMatch ncbigene:100128553 semapv:UnspecifiedMatching +OMIM:608911 choanal atresia, posterior skos:exactMatch MONDO:0012155 semapv:UnspecifiedMatching +OMIM:608912 POTEB skos:exactMatch hgnc.symbol:33734 semapv:UnspecifiedMatching +OMIM:608912 POTEB skos:exactMatch hgnc.symbol:POTEB semapv:UnspecifiedMatching +OMIM:608912 POTEB skos:exactMatch ncbigene:100996331 semapv:UnspecifiedMatching +OMIM:608913 POTEH skos:exactMatch hgnc.symbol:133 semapv:UnspecifiedMatching +OMIM:608913 POTEH skos:exactMatch hgnc.symbol:POTEH semapv:UnspecifiedMatching +OMIM:608913 POTEH skos:exactMatch ncbigene:23784 semapv:UnspecifiedMatching +OMIM:608914 POTEE skos:exactMatch hgnc.symbol:33895 semapv:UnspecifiedMatching +OMIM:608914 POTEE skos:exactMatch hgnc.symbol:POTEE semapv:UnspecifiedMatching +OMIM:608914 POTEE skos:exactMatch ncbigene:445582 semapv:UnspecifiedMatching +OMIM:608915 POTEA skos:exactMatch hgnc.symbol:33893 semapv:UnspecifiedMatching +OMIM:608915 POTEA skos:exactMatch hgnc.symbol:POTEA semapv:UnspecifiedMatching +OMIM:608915 POTEA skos:exactMatch ncbigene:340441 semapv:UnspecifiedMatching +OMIM:608916 POTEG skos:exactMatch hgnc.symbol:33896 semapv:UnspecifiedMatching +OMIM:608916 POTEG skos:exactMatch hgnc.symbol:POTEG semapv:UnspecifiedMatching +OMIM:608916 POTEG skos:exactMatch ncbigene:404785 semapv:UnspecifiedMatching +OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:18803 semapv:UnspecifiedMatching +OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:ATPAF1 semapv:UnspecifiedMatching +OMIM:608917 ATPAF1 skos:exactMatch ncbigene:64756 semapv:UnspecifiedMatching +OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:18802 semapv:UnspecifiedMatching +OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:ATPAF2 semapv:UnspecifiedMatching +OMIM:608918 ATPAF2 skos:exactMatch ncbigene:91647 semapv:UnspecifiedMatching +OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:22222 semapv:UnspecifiedMatching +OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:TTYH3 semapv:UnspecifiedMatching +OMIM:608919 TTYH3 skos:exactMatch ncbigene:80727 semapv:UnspecifiedMatching +OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:21044 semapv:UnspecifiedMatching +OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:PITPNM2 semapv:UnspecifiedMatching +OMIM:608920 PITPNM2 skos:exactMatch ncbigene:57605 semapv:UnspecifiedMatching +OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:21043 semapv:UnspecifiedMatching +OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:PITPNM3 semapv:UnspecifiedMatching +OMIM:608921 PITPNM3 skos:exactMatch ncbigene:83394 semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch UMLS:C1824213 semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:25419 semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:ARL13B semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch ncbigene:200894 semapv:UnspecifiedMatching +OMIM:608923 TAAR6 skos:exactMatch hgnc.symbol:20978 semapv:UnspecifiedMatching +OMIM:608923 TAAR6 skos:exactMatch hgnc.symbol:TAAR6 semapv:UnspecifiedMatching +OMIM:608923 TAAR6 skos:exactMatch ncbigene:319100 semapv:UnspecifiedMatching +OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:20842 semapv:UnspecifiedMatching +OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:FOXP4 semapv:UnspecifiedMatching +OMIM:608924 FOXP4 skos:exactMatch ncbigene:116113 semapv:UnspecifiedMatching +OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:19888 semapv:UnspecifiedMatching +OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:MMRN2 semapv:UnspecifiedMatching +OMIM:608925 MMRN2 skos:exactMatch ncbigene:79812 semapv:UnspecifiedMatching +OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:18036 semapv:UnspecifiedMatching +OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:EMID1 semapv:UnspecifiedMatching +OMIM:608926 EMID1 skos:exactMatch ncbigene:129080 semapv:UnspecifiedMatching +OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:18038 semapv:UnspecifiedMatching +OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:COL26A1 semapv:UnspecifiedMatching +OMIM:608927 EMID2 skos:exactMatch ncbigene:136227 semapv:UnspecifiedMatching +OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:19881 semapv:UnspecifiedMatching +OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:EMILIN2 semapv:UnspecifiedMatching +OMIM:608928 EMILIN2 skos:exactMatch ncbigene:84034 semapv:UnspecifiedMatching +OMIM:608929 EMILIN3 skos:exactMatch hgnc.symbol:16123 semapv:UnspecifiedMatching +OMIM:608929 EMILIN3 skos:exactMatch hgnc.symbol:EMILIN3 semapv:UnspecifiedMatching +OMIM:608929 EMILIN3 skos:exactMatch ncbigene:90187 semapv:UnspecifiedMatching +OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel skos:exactMatch MONDO:0012156 semapv:UnspecifiedMatching +OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch MONDO:0012157 semapv:UnspecifiedMatching +OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching +OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching +OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch UMLS:C1837091 semapv:UnspecifiedMatching +OMIM:608932 keratoconus 2 skos:exactMatch MONDO:0012158 semapv:UnspecifiedMatching +OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:18956 semapv:UnspecifiedMatching +OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:NEIL2 semapv:UnspecifiedMatching +OMIM:608933 NEIL2 skos:exactMatch ncbigene:252969 semapv:UnspecifiedMatching +OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:24573 semapv:UnspecifiedMatching +OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:NEIL3 semapv:UnspecifiedMatching +OMIM:608934 NEIL3 skos:exactMatch ncbigene:55247 semapv:UnspecifiedMatching +OMIM:608935 lung cancer susceptibility 1 skos:exactMatch MONDO:0012159 semapv:UnspecifiedMatching +OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:17279 semapv:UnspecifiedMatching +OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:OPRPN semapv:UnspecifiedMatching +OMIM:608936 OPRPN skos:exactMatch ncbigene:58503 semapv:UnspecifiedMatching +OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:30417 semapv:UnspecifiedMatching +OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:SH2B1 semapv:UnspecifiedMatching +OMIM:608937 SH2B1 skos:exactMatch ncbigene:25970 semapv:UnspecifiedMatching +OMIM:608938 RPS6KB1 skos:exactMatch hgnc.symbol:10436 semapv:UnspecifiedMatching +OMIM:608938 RPS6KB1 skos:exactMatch hgnc.symbol:RPS6KB1 semapv:UnspecifiedMatching +OMIM:608938 RPS6KB1 skos:exactMatch ncbigene:6198 semapv:UnspecifiedMatching +OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:10437 semapv:UnspecifiedMatching +OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:RPS6KB2 semapv:UnspecifiedMatching +OMIM:608939 RPS6KB2 skos:exactMatch ncbigene:6199 semapv:UnspecifiedMatching +OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy skos:exactMatch MONDO:0012160 semapv:UnspecifiedMatching +OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:4405 semapv:UnspecifiedMatching +OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:GNG3 semapv:UnspecifiedMatching +OMIM:608941 GNG3 skos:exactMatch ncbigene:2785 semapv:UnspecifiedMatching +OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:24596 semapv:UnspecifiedMatching +OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:DYNLL2 semapv:UnspecifiedMatching +OMIM:608942 DYNLL2 skos:exactMatch ncbigene:140735 semapv:UnspecifiedMatching +OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:28050 semapv:UnspecifiedMatching +OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:CIAPIN1 semapv:UnspecifiedMatching +OMIM:608943 CIAPIN1 skos:exactMatch ncbigene:57019 semapv:UnspecifiedMatching +OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:23399 semapv:UnspecifiedMatching +OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:FREM1 semapv:UnspecifiedMatching +OMIM:608944 FREM1 skos:exactMatch ncbigene:158326 semapv:UnspecifiedMatching +OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:25396 semapv:UnspecifiedMatching +OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:FREM2 semapv:UnspecifiedMatching +OMIM:608945 FREM2 skos:exactMatch ncbigene:341640 semapv:UnspecifiedMatching +OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:25172 semapv:UnspecifiedMatching +OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching +OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch ncbigene:166752 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch UMLS:C1427765 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:22234 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:KCTD13 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch ncbigene:253980 semapv:UnspecifiedMatching +OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:20393 semapv:UnspecifiedMatching +OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:ZIC4 semapv:UnspecifiedMatching +OMIM:608948 ZIC4 skos:exactMatch ncbigene:84107 semapv:UnspecifiedMatching +OMIM:608949 GLTP skos:exactMatch hgnc.symbol:24867 semapv:UnspecifiedMatching +OMIM:608949 GLTP skos:exactMatch hgnc.symbol:GLTP semapv:UnspecifiedMatching +OMIM:608949 GLTP skos:exactMatch ncbigene:51228 semapv:UnspecifiedMatching +OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:14099 semapv:UnspecifiedMatching +OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:CNOT6 semapv:UnspecifiedMatching +OMIM:608951 CNOT6 skos:exactMatch ncbigene:57472 semapv:UnspecifiedMatching +OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:23207 semapv:UnspecifiedMatching +OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:RIF1 semapv:UnspecifiedMatching +OMIM:608952 RIF1 skos:exactMatch ncbigene:55183 semapv:UnspecifiedMatching +OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:11725 semapv:UnspecifiedMatching +OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:TEKT2 semapv:UnspecifiedMatching +OMIM:608953 TEKT2 skos:exactMatch ncbigene:27285 semapv:UnspecifiedMatching +OMIM:608954 MON1B skos:exactMatch UMLS:C1537934 semapv:UnspecifiedMatching +OMIM:608954 MON1B skos:exactMatch hgnc.symbol:25020 semapv:UnspecifiedMatching +OMIM:608954 MON1B skos:exactMatch hgnc.symbol:MON1B semapv:UnspecifiedMatching +OMIM:608954 MON1B skos:exactMatch ncbigene:22879 semapv:UnspecifiedMatching +OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:1312 semapv:UnspecifiedMatching +OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:TTLL1 semapv:UnspecifiedMatching +OMIM:608955 TTLL1 skos:exactMatch ncbigene:25809 semapv:UnspecifiedMatching +OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:16055 semapv:UnspecifiedMatching +OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:SLC46A2 semapv:UnspecifiedMatching +OMIM:608956 SLC46A2 skos:exactMatch ncbigene:57864 semapv:UnspecifiedMatching +OMIM:608957 immunodeficiency 116 skos:exactMatch MONDO:0012161 semapv:UnspecifiedMatching +OMIM:608958 ADA skos:exactMatch hgnc.symbol:186 semapv:UnspecifiedMatching +OMIM:608958 ADA skos:exactMatch hgnc.symbol:ADA semapv:UnspecifiedMatching +OMIM:608958 ADA skos:exactMatch ncbigene:100 semapv:UnspecifiedMatching +OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:27717 semapv:UnspecifiedMatching +OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:DPH3 semapv:UnspecifiedMatching +OMIM:608959 DPH3 skos:exactMatch ncbigene:285381 semapv:UnspecifiedMatching +OMIM:608960 ARL5A skos:exactMatch UMLS:C1824205 semapv:UnspecifiedMatching +OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:696 semapv:UnspecifiedMatching +OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:ARL5A semapv:UnspecifiedMatching +OMIM:608960 ARL5A skos:exactMatch ncbigene:26225 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch UMLS:C1425222 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch hgnc.symbol:17992 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch hgnc.symbol:TRPM3 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch ncbigene:80036 semapv:UnspecifiedMatching +OMIM:608962 RHBDL2 skos:exactMatch hgnc.symbol:16083 semapv:UnspecifiedMatching +OMIM:608962 RHBDL2 skos:exactMatch hgnc.symbol:RHBDL2 semapv:UnspecifiedMatching +OMIM:608962 RHBDL2 skos:exactMatch ncbigene:54933 semapv:UnspecifiedMatching +OMIM:608963 NUTM1 skos:exactMatch hgnc.symbol:29919 semapv:UnspecifiedMatching +OMIM:608963 NUTM1 skos:exactMatch hgnc.symbol:NUTM1 semapv:UnspecifiedMatching +OMIM:608963 NUTM1 skos:exactMatch ncbigene:256646 semapv:UnspecifiedMatching +OMIM:608964 TBPL2 skos:exactMatch hgnc.symbol:19841 semapv:UnspecifiedMatching +OMIM:608964 TBPL2 skos:exactMatch hgnc.symbol:TBPL2 semapv:UnspecifiedMatching +OMIM:608964 TBPL2 skos:exactMatch ncbigene:387332 semapv:UnspecifiedMatching +OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:1386 semapv:UnspecifiedMatching +OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:CABP4 semapv:UnspecifiedMatching +OMIM:608965 CABP4 skos:exactMatch ncbigene:57010 semapv:UnspecifiedMatching +OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:21231 semapv:UnspecifiedMatching +OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:DACT2 semapv:UnspecifiedMatching +OMIM:608966 DACT2 skos:exactMatch ncbigene:168002 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch UMLS:C1416710 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch UMLS:C4310873 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch UMLS:C4310874 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch hgnc.symbol:6408 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch hgnc.symbol:MAFB semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch ncbigene:9935 semapv:UnspecifiedMatching +OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:20321 semapv:UnspecifiedMatching +OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:UTP14C semapv:UnspecifiedMatching +OMIM:608969 UTP14C skos:exactMatch ncbigene:9724 semapv:UnspecifiedMatching +OMIM:608970 macular dystrophy, patterned, 2 skos:exactMatch MONDO:0012162 semapv:UnspecifiedMatching +OMIM:608971 immunodeficiency 104 skos:exactMatch MONDO:0012163 semapv:UnspecifiedMatching +OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:27301 semapv:UnspecifiedMatching +OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:CRTC2 semapv:UnspecifiedMatching +OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching +OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:21680 semapv:UnspecifiedMatching +OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:SIK2 semapv:UnspecifiedMatching +OMIM:608973 SIK2 skos:exactMatch ncbigene:23235 semapv:UnspecifiedMatching +OMIM:608974 C1RL skos:exactMatch hgnc.symbol:21265 semapv:UnspecifiedMatching +OMIM:608974 C1RL skos:exactMatch hgnc.symbol:C1RL semapv:UnspecifiedMatching +OMIM:608974 C1RL skos:exactMatch ncbigene:51279 semapv:UnspecifiedMatching +OMIM:608975 PARD6B skos:exactMatch UMLS:C1424118 semapv:UnspecifiedMatching +OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:16245 semapv:UnspecifiedMatching +OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:PARD6B semapv:UnspecifiedMatching +OMIM:608975 PARD6B skos:exactMatch ncbigene:84612 semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch UMLS:C1423959 semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:16076 semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:PARD6G semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch ncbigene:84552 semapv:UnspecifiedMatching +OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:30528 semapv:UnspecifiedMatching +OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:DNAJC19 semapv:UnspecifiedMatching +OMIM:608977 DNAJC19 skos:exactMatch ncbigene:131118 semapv:UnspecifiedMatching +OMIM:608978 meacham syndrome skos:exactMatch MONDO:0012164 semapv:UnspecifiedMatching +OMIM:608979 PPM1M skos:exactMatch hgnc.symbol:26506 semapv:UnspecifiedMatching +OMIM:608979 PPM1M skos:exactMatch hgnc.symbol:PPM1M semapv:UnspecifiedMatching +OMIM:608979 PPM1M skos:exactMatch ncbigene:132160 semapv:UnspecifiedMatching +OMIM:608980 bifid nose with or without anorectal and renal anomalies skos:exactMatch MONDO:0012165 semapv:UnspecifiedMatching +OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:18123 semapv:UnspecifiedMatching +OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:ACVR1C semapv:UnspecifiedMatching +OMIM:608981 ACVR1C skos:exactMatch ncbigene:130399 semapv:UnspecifiedMatching +OMIM:608984 ataxia, sensory, 1, autosomal dominant skos:exactMatch MONDO:0012166 semapv:UnspecifiedMatching +OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:10061 semapv:UnspecifiedMatching +OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:RNF2 semapv:UnspecifiedMatching +OMIM:608985 RNF2 skos:exactMatch ncbigene:6045 semapv:UnspecifiedMatching +OMIM:608986 CRTC3 skos:exactMatch hgnc.symbol:26148 semapv:UnspecifiedMatching +OMIM:608986 CRTC3 skos:exactMatch hgnc.symbol:CRTC3 semapv:UnspecifiedMatching +OMIM:608986 CRTC3 skos:exactMatch ncbigene:64784 semapv:UnspecifiedMatching +OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:30135 semapv:UnspecifiedMatching +OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:P4HA3 semapv:UnspecifiedMatching +OMIM:608987 P4HA3 skos:exactMatch ncbigene:283208 semapv:UnspecifiedMatching +OMIM:608988 atrial fibrillation, familial, 2 skos:exactMatch MONDO:0012167 semapv:UnspecifiedMatching +OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:30311 semapv:UnspecifiedMatching +OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:SDR16C5 semapv:UnspecifiedMatching +OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch ncbigene:195814 semapv:UnspecifiedMatching +OMIM:608990 ADAMTS10 skos:exactMatch hgnc.symbol:13201 semapv:UnspecifiedMatching +OMIM:608990 ADAMTS10 skos:exactMatch hgnc.symbol:ADAMTS10 semapv:UnspecifiedMatching +OMIM:608990 ADAMTS10 skos:exactMatch ncbigene:81794 semapv:UnspecifiedMatching +OMIM:608991 MAML3 skos:exactMatch hgnc.symbol:16272 semapv:UnspecifiedMatching +OMIM:608991 MAML3 skos:exactMatch hgnc.symbol:MAML3 semapv:UnspecifiedMatching +OMIM:608991 MAML3 skos:exactMatch ncbigene:55534 semapv:UnspecifiedMatching +OMIM:608992 BCL6B skos:exactMatch hgnc.symbol:1002 semapv:UnspecifiedMatching +OMIM:608992 BCL6B skos:exactMatch hgnc.symbol:BCL6B semapv:UnspecifiedMatching +OMIM:608992 BCL6B skos:exactMatch ncbigene:255877 semapv:UnspecifiedMatching +OMIM:608993 APOBEC3F skos:exactMatch hgnc.symbol:17356 semapv:UnspecifiedMatching +OMIM:608993 APOBEC3F skos:exactMatch hgnc.symbol:APOBEC3F semapv:UnspecifiedMatching +OMIM:608993 APOBEC3F skos:exactMatch ncbigene:200316 semapv:UnspecifiedMatching +OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:20961 semapv:UnspecifiedMatching +OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:ANKS1A semapv:UnspecifiedMatching +OMIM:608994 ANKS1A skos:exactMatch ncbigene:23294 semapv:UnspecifiedMatching +OMIM:608995 dyslexia, susceptibility to, 8 skos:exactMatch MONDO:0012168 semapv:UnspecifiedMatching +OMIM:608996 premature ovarian failure 3 skos:exactMatch MONDO:0012169 semapv:UnspecifiedMatching +OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:12383 semapv:UnspecifiedMatching +OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:EIPR1 semapv:UnspecifiedMatching +OMIM:608998 EIPR1 skos:exactMatch ncbigene:7260 semapv:UnspecifiedMatching +OMIM:608999 TSSC2 skos:exactMatch hgnc.symbol:12384 semapv:UnspecifiedMatching +OMIM:608999 TSSC2 skos:exactMatch hgnc.symbol:TSSC2 semapv:UnspecifiedMatching +OMIM:608999 TSSC2 skos:exactMatch ncbigene:650368 semapv:UnspecifiedMatching +OMIM:609000 MOXD1 skos:exactMatch hgnc.symbol:21063 semapv:UnspecifiedMatching +OMIM:609000 MOXD1 skos:exactMatch hgnc.symbol:MOXD1 semapv:UnspecifiedMatching +OMIM:609000 MOXD1 skos:exactMatch ncbigene:26002 semapv:UnspecifiedMatching +OMIM:609001 PIK3C2G skos:exactMatch hgnc.symbol:8973 semapv:UnspecifiedMatching +OMIM:609001 PIK3C2G skos:exactMatch hgnc.symbol:PIK3C2G semapv:UnspecifiedMatching +OMIM:609001 PIK3C2G skos:exactMatch ncbigene:5288 semapv:UnspecifiedMatching +OMIM:609002 TEKT1 skos:exactMatch hgnc.symbol:15534 semapv:UnspecifiedMatching +OMIM:609002 TEKT1 skos:exactMatch hgnc.symbol:TEKT1 semapv:UnspecifiedMatching +OMIM:609002 TEKT1 skos:exactMatch ncbigene:83659 semapv:UnspecifiedMatching +OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:21689 semapv:UnspecifiedMatching +OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:FIS1 semapv:UnspecifiedMatching +OMIM:609003 FIS1 skos:exactMatch ncbigene:51024 semapv:UnspecifiedMatching +OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:23688 semapv:UnspecifiedMatching +OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:BCL9L semapv:UnspecifiedMatching +OMIM:609004 BCL9L skos:exactMatch ncbigene:283149 semapv:UnspecifiedMatching +OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:16661 semapv:UnspecifiedMatching +OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:WDR17 semapv:UnspecifiedMatching +OMIM:609005 WDR17 skos:exactMatch ncbigene:116966 semapv:UnspecifiedMatching +OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement skos:exactMatch MONDO:0012170 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch UMLS:C1425650 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch UMLS:C1846862 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch UMLS:C4017179 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:18618 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:LRRK2 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch ncbigene:120892 semapv:UnspecifiedMatching +OMIM:609008 marfanoid habitus with situs inversus skos:exactMatch MONDO:0012171 semapv:UnspecifiedMatching +OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:12854 semapv:UnspecifiedMatching +OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:YWHAQ semapv:UnspecifiedMatching +OMIM:609009 YWHAQ skos:exactMatch ncbigene:10971 semapv:UnspecifiedMatching +OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:6936 semapv:UnspecifiedMatching +OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:MCCC1 semapv:UnspecifiedMatching +OMIM:609010 MCCC1 skos:exactMatch ncbigene:56922 semapv:UnspecifiedMatching +OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:19964 semapv:UnspecifiedMatching +OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:VASH1 semapv:UnspecifiedMatching +OMIM:609011 VASH1 skos:exactMatch ncbigene:22846 semapv:UnspecifiedMatching +OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:12757 semapv:UnspecifiedMatching +OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:WDR5 semapv:UnspecifiedMatching +OMIM:609012 WDR5 skos:exactMatch ncbigene:11091 semapv:UnspecifiedMatching +OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:23612 semapv:UnspecifiedMatching +OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:SLCO4C1 semapv:UnspecifiedMatching +OMIM:609013 SLCO4C1 skos:exactMatch ncbigene:353189 semapv:UnspecifiedMatching +OMIM:609014 MCCC2 skos:exactMatch hgnc.symbol:6937 semapv:UnspecifiedMatching +OMIM:609014 MCCC2 skos:exactMatch hgnc.symbol:MCCC2 semapv:UnspecifiedMatching +OMIM:609014 MCCC2 skos:exactMatch ncbigene:64087 semapv:UnspecifiedMatching +OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch MONDO:0958181 semapv:UnspecifiedMatching +OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch Orphanet:746 semapv:UnspecifiedMatching +OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch UMLS:C1969443 semapv:UnspecifiedMatching +OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency skos:exactMatch MONDO:0012173 semapv:UnspecifiedMatching +OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:15743 semapv:UnspecifiedMatching +OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:ERMAP semapv:UnspecifiedMatching +OMIM:609017 ERMAP skos:exactMatch ncbigene:114625 semapv:UnspecifiedMatching +OMIM:609018 HLCS skos:exactMatch hgnc.symbol:4976 semapv:UnspecifiedMatching +OMIM:609018 HLCS skos:exactMatch hgnc.symbol:HLCS semapv:UnspecifiedMatching +OMIM:609018 HLCS skos:exactMatch ncbigene:3141 semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch UMLS:C1412833 semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch hgnc.symbol:1122 semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch hgnc.symbol:BTD semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch ncbigene:686 semapv:UnspecifiedMatching +OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:13636 semapv:UnspecifiedMatching +OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:FOLH1B semapv:UnspecifiedMatching +OMIM:609020 FOLH1B skos:exactMatch ncbigene:219595 semapv:UnspecifiedMatching +OMIM:609021 peripheral cone dystrophy skos:exactMatch MONDO:0012174 semapv:UnspecifiedMatching +OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:28611 semapv:UnspecifiedMatching +OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:RICTOR semapv:UnspecifiedMatching +OMIM:609022 RICTOR skos:exactMatch ncbigene:253260 semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch UMLS:C1418706 semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch hgnc.symbol:9153 semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch hgnc.symbol:PNKD semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch ncbigene:25953 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch UMLS:C1416623 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:6305 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:KDELR2 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch ncbigene:11014 semapv:UnspecifiedMatching +OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:24431 semapv:UnspecifiedMatching +OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:KRT75 semapv:UnspecifiedMatching +OMIM:609025 KRT75 skos:exactMatch ncbigene:9119 semapv:UnspecifiedMatching +OMIM:609026 cataract 28 skos:exactMatch MONDO:0012175 semapv:UnspecifiedMatching +OMIM:609028 TIFA skos:exactMatch hgnc.symbol:19075 semapv:UnspecifiedMatching +OMIM:609028 TIFA skos:exactMatch hgnc.symbol:TIFA semapv:UnspecifiedMatching +OMIM:609028 TIFA skos:exactMatch ncbigene:92610 semapv:UnspecifiedMatching +OMIM:609029 emanuel syndrome skos:exactMatch MONDO:0012176 semapv:UnspecifiedMatching +OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:2847 semapv:UnspecifiedMatching +OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:DGCR8 semapv:UnspecifiedMatching +OMIM:609030 DGCR8 skos:exactMatch ncbigene:54487 semapv:UnspecifiedMatching +OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:15932 semapv:UnspecifiedMatching +OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:EPPIN semapv:UnspecifiedMatching +OMIM:609031 EPPIN skos:exactMatch ncbigene:57119 semapv:UnspecifiedMatching +OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:19136 semapv:UnspecifiedMatching +OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:FRG2 semapv:UnspecifiedMatching +OMIM:609032 FRG2 skos:exactMatch ncbigene:448831 semapv:UnspecifiedMatching +OMIM:609033 posterior column ataxia with retinitis pigmentosa skos:exactMatch MONDO:0012177 semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch UMLS:C1415526 semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch hgnc.symbol:4882 semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch hgnc.symbol:HEYL semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch ncbigene:26508 semapv:UnspecifiedMatching +OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:14436 semapv:UnspecifiedMatching +OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:RAPH1 semapv:UnspecifiedMatching +OMIM:609035 RAPH1 skos:exactMatch ncbigene:65059 semapv:UnspecifiedMatching +OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:17379 semapv:UnspecifiedMatching +OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:APBB1IP semapv:UnspecifiedMatching +OMIM:609036 APBB1IP skos:exactMatch ncbigene:54518 semapv:UnspecifiedMatching +OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch MONDO:0012178 semapv:UnspecifiedMatching +OMIM:609038 RND1 skos:exactMatch hgnc.symbol:18314 semapv:UnspecifiedMatching +OMIM:609038 RND1 skos:exactMatch hgnc.symbol:RND1 semapv:UnspecifiedMatching +OMIM:609038 RND1 skos:exactMatch ncbigene:27289 semapv:UnspecifiedMatching +OMIM:609039 narcolepsy 3 skos:exactMatch MONDO:0012179 semapv:UnspecifiedMatching +OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch MONDO:0012180 semapv:UnspecifiedMatching +OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching +OMIM:609041 spastic paraplegia 27, autosomal recessive skos:exactMatch MONDO:0012181 semapv:UnspecifiedMatching +OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:19992 semapv:UnspecifiedMatching +OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:OPN5 semapv:UnspecifiedMatching +OMIM:609042 OPN5 skos:exactMatch ncbigene:221391 semapv:UnspecifiedMatching +OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:14666 semapv:UnspecifiedMatching +OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:RXFP4 semapv:UnspecifiedMatching +OMIM:609043 RXFP4 skos:exactMatch ncbigene:339403 semapv:UnspecifiedMatching +OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:19061 semapv:UnspecifiedMatching +OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:FFAR4 semapv:UnspecifiedMatching +OMIM:609044 FFAR4 skos:exactMatch ncbigene:338557 semapv:UnspecifiedMatching +OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:19997 semapv:UnspecifiedMatching +OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:GPR141 semapv:UnspecifiedMatching +OMIM:609045 GPR141 skos:exactMatch ncbigene:353345 semapv:UnspecifiedMatching +OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:20088 semapv:UnspecifiedMatching +OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:GPR142 semapv:UnspecifiedMatching +OMIM:609046 GPR142 skos:exactMatch ncbigene:350383 semapv:UnspecifiedMatching +OMIM:609047 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch MONDO:0012182 semapv:UnspecifiedMatching +OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch MONDO:0012183 semapv:UnspecifiedMatching +OMIM:609049 pierson syndrome skos:exactMatch MONDO:0012184 semapv:UnspecifiedMatching +OMIM:609049 pierson syndrome skos:exactMatch Orphanet:2670 semapv:UnspecifiedMatching +OMIM:609049 pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching +OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:23784 semapv:UnspecifiedMatching +OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:MTA3 semapv:UnspecifiedMatching +OMIM:609050 MTA3 skos:exactMatch ncbigene:57504 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch UMLS:C1424714 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:17057 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:CARD8 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch ncbigene:22900 semapv:UnspecifiedMatching +OMIM:609052 spondylometaphyseal dysplasia, iia a4 skos:exactMatch MONDO:0012185 semapv:UnspecifiedMatching +OMIM:609053 fanconi anemia, complementation group 1 skos:exactMatch MONDO:0012186 semapv:UnspecifiedMatching +OMIM:609054 fanconi anemia, complementation group j skos:exactMatch MONDO:0012187 semapv:UnspecifiedMatching +OMIM:609055 ceroid lipofuscinosis, neuronal, 9 skos:exactMatch MONDO:0012188 semapv:UnspecifiedMatching +OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch MONDO:0018274 semapv:UnspecifiedMatching +OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching +OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching +OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch MONDO:0012190 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch UMLS:C1417504 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch UMLS:C1855115 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch UMLS:C1855116 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch hgnc.symbol:7526 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch hgnc.symbol:MMUT semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch ncbigene:4594 semapv:UnspecifiedMatching +OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:30802 semapv:UnspecifiedMatching +OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:PNPLA2 semapv:UnspecifiedMatching +OMIM:609059 PNPLA2 skos:exactMatch ncbigene:57104 semapv:UnspecifiedMatching +OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch MONDO:0012191 semapv:UnspecifiedMatching +OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch Orphanet:137681 semapv:UnspecifiedMatching +OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch UMLS:C1836797 semapv:UnspecifiedMatching +OMIM:609061 ENAH skos:exactMatch UMLS:C1425409 semapv:UnspecifiedMatching +OMIM:609061 ENAH skos:exactMatch hgnc.symbol:18271 semapv:UnspecifiedMatching +OMIM:609061 ENAH skos:exactMatch hgnc.symbol:ENAH semapv:UnspecifiedMatching +OMIM:609061 ENAH skos:exactMatch ncbigene:55740 semapv:UnspecifiedMatching +OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:21694 semapv:UnspecifiedMatching +OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:POU6F2 semapv:UnspecifiedMatching +OMIM:609062 POU6F2 skos:exactMatch ncbigene:11281 semapv:UnspecifiedMatching +OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:17772 semapv:UnspecifiedMatching +OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:TXN2 semapv:UnspecifiedMatching +OMIM:609063 TXN2 skos:exactMatch ncbigene:25828 semapv:UnspecifiedMatching +OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:20675 semapv:UnspecifiedMatching +OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:CNDP1 semapv:UnspecifiedMatching +OMIM:609064 CNDP1 skos:exactMatch ncbigene:84735 semapv:UnspecifiedMatching +OMIM:609066 AJUBA skos:exactMatch UMLS:C1426808 semapv:UnspecifiedMatching +OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:20250 semapv:UnspecifiedMatching +OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:AJUBA semapv:UnspecifiedMatching +OMIM:609066 AJUBA skos:exactMatch ncbigene:84962 semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch UMLS:C1822656 semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch hgnc.symbol:32322 semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch hgnc.symbol:SCX semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch ncbigene:642658 semapv:UnspecifiedMatching +OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:26780 semapv:UnspecifiedMatching +OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:DAND5 semapv:UnspecifiedMatching +OMIM:609068 DAND5 skos:exactMatch ncbigene:199699 semapv:UnspecifiedMatching +OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch MONDO:0012192 semapv:UnspecifiedMatching +OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch Orphanet:65288 semapv:UnspecifiedMatching +OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching +OMIM:609070 hemoglobin, high altitude adaptation skos:exactMatch MONDO:0044274 semapv:UnspecifiedMatching +OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:13608 semapv:UnspecifiedMatching +OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:FBXW2 semapv:UnspecifiedMatching +OMIM:609071 FBXW2 skos:exactMatch ncbigene:26190 semapv:UnspecifiedMatching +OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:13613 semapv:UnspecifiedMatching +OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:FBXW5 semapv:UnspecifiedMatching +OMIM:609072 FBXW5 skos:exactMatch ncbigene:54461 semapv:UnspecifiedMatching +OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:13597 semapv:UnspecifiedMatching +OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:FBXW8 semapv:UnspecifiedMatching +OMIM:609073 FBXW8 skos:exactMatch ncbigene:26259 semapv:UnspecifiedMatching +OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:28136 semapv:UnspecifiedMatching +OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:FBXW9 semapv:UnspecifiedMatching +OMIM:609074 FBXW9 skos:exactMatch ncbigene:84261 semapv:UnspecifiedMatching +OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:20729 semapv:UnspecifiedMatching +OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:FBXW12 semapv:UnspecifiedMatching +OMIM:609075 FBXW12 skos:exactMatch ncbigene:285231 semapv:UnspecifiedMatching +OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:13603 semapv:UnspecifiedMatching +OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:FBXL6 semapv:UnspecifiedMatching +OMIM:609076 FBXL6 skos:exactMatch ncbigene:26233 semapv:UnspecifiedMatching +OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:17875 semapv:UnspecifiedMatching +OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:FBXL8 semapv:UnspecifiedMatching +OMIM:609077 FBXL8 skos:exactMatch ncbigene:55336 semapv:UnspecifiedMatching +OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:13610 semapv:UnspecifiedMatching +OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:KDM2B semapv:UnspecifiedMatching +OMIM:609078 KDM2B skos:exactMatch ncbigene:84678 semapv:UnspecifiedMatching +OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:13611 semapv:UnspecifiedMatching +OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:FBXL12 semapv:UnspecifiedMatching +OMIM:609079 FBXL12 skos:exactMatch ncbigene:54850 semapv:UnspecifiedMatching +OMIM:609080 FBXL13 skos:exactMatch UMLS:C1539481 semapv:UnspecifiedMatching +OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:21658 semapv:UnspecifiedMatching +OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:FBXL13 semapv:UnspecifiedMatching +OMIM:609080 FBXL13 skos:exactMatch ncbigene:222235 semapv:UnspecifiedMatching +OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:28624 semapv:UnspecifiedMatching +OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:FBXL14 semapv:UnspecifiedMatching +OMIM:609081 FBXL14 skos:exactMatch ncbigene:144699 semapv:UnspecifiedMatching +OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:14150 semapv:UnspecifiedMatching +OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:FBXL16 semapv:UnspecifiedMatching +OMIM:609082 FBXL16 skos:exactMatch ncbigene:146330 semapv:UnspecifiedMatching +OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:13615 semapv:UnspecifiedMatching +OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:FBXL17 semapv:UnspecifiedMatching +OMIM:609083 FBXL17 skos:exactMatch ncbigene:64839 semapv:UnspecifiedMatching +OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:21874 semapv:UnspecifiedMatching +OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:FBXL18 semapv:UnspecifiedMatching +OMIM:609084 FBXL18 skos:exactMatch ncbigene:80028 semapv:UnspecifiedMatching +OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:25300 semapv:UnspecifiedMatching +OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:FBXL19 semapv:UnspecifiedMatching +OMIM:609085 FBXL19 skos:exactMatch ncbigene:54620 semapv:UnspecifiedMatching +OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:24679 semapv:UnspecifiedMatching +OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:FBXL20 semapv:UnspecifiedMatching +OMIM:609086 FBXL20 skos:exactMatch ncbigene:84961 semapv:UnspecifiedMatching +OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:13600 semapv:UnspecifiedMatching +OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:FBXL21P semapv:UnspecifiedMatching +OMIM:609087 FBXL21 skos:exactMatch ncbigene:26223 semapv:UnspecifiedMatching +OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:27537 semapv:UnspecifiedMatching +OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:FBXL22 semapv:UnspecifiedMatching +OMIM:609088 FBXL22 skos:exactMatch ncbigene:283807 semapv:UnspecifiedMatching +OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:13582 semapv:UnspecifiedMatching +OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:FBXO3 semapv:UnspecifiedMatching +OMIM:609089 FBXO3 skos:exactMatch ncbigene:26273 semapv:UnspecifiedMatching +OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:13583 semapv:UnspecifiedMatching +OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:FBXO4 semapv:UnspecifiedMatching +OMIM:609090 FBXO4 skos:exactMatch ncbigene:26272 semapv:UnspecifiedMatching +OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:13588 semapv:UnspecifiedMatching +OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:FBXO9 semapv:UnspecifiedMatching +OMIM:609091 FBXO9 skos:exactMatch ncbigene:26268 semapv:UnspecifiedMatching +OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:13589 semapv:UnspecifiedMatching +OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:FBXO10 semapv:UnspecifiedMatching +OMIM:609092 FBXO10 skos:exactMatch ncbigene:26267 semapv:UnspecifiedMatching +OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:13617 semapv:UnspecifiedMatching +OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:FBXO15 semapv:UnspecifiedMatching +OMIM:609093 FBXO15 skos:exactMatch ncbigene:201456 semapv:UnspecifiedMatching +OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:18754 semapv:UnspecifiedMatching +OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:FBXO17 semapv:UnspecifiedMatching +OMIM:609094 FBXO17 skos:exactMatch ncbigene:115290 semapv:UnspecifiedMatching +OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:13592 semapv:UnspecifiedMatching +OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:FBXO21 semapv:UnspecifiedMatching +OMIM:609095 FBXO21 skos:exactMatch ncbigene:23014 semapv:UnspecifiedMatching +OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:13593 semapv:UnspecifiedMatching +OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:FBXO22 semapv:UnspecifiedMatching +OMIM:609096 FBXO22 skos:exactMatch ncbigene:26263 semapv:UnspecifiedMatching +OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:13595 semapv:UnspecifiedMatching +OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:FBXO24 semapv:UnspecifiedMatching +OMIM:609097 FBXO24 skos:exactMatch ncbigene:26261 semapv:UnspecifiedMatching +OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:13596 semapv:UnspecifiedMatching +OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:FBXO25 semapv:UnspecifiedMatching +OMIM:609098 FBXO25 skos:exactMatch ncbigene:26260 semapv:UnspecifiedMatching +OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:18753 semapv:UnspecifiedMatching +OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:FBXO27 semapv:UnspecifiedMatching +OMIM:609099 FBXO27 skos:exactMatch ncbigene:126433 semapv:UnspecifiedMatching +OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:29046 semapv:UnspecifiedMatching +OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:FBXO28 semapv:UnspecifiedMatching +OMIM:609100 FBXO28 skos:exactMatch ncbigene:23219 semapv:UnspecifiedMatching +OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:15600 semapv:UnspecifiedMatching +OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:FBXO30 semapv:UnspecifiedMatching +OMIM:609101 FBXO30 skos:exactMatch ncbigene:84085 semapv:UnspecifiedMatching +OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:16510 semapv:UnspecifiedMatching +OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:FBXO31 semapv:UnspecifiedMatching +OMIM:609102 FBXO31 skos:exactMatch ncbigene:79791 semapv:UnspecifiedMatching +OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:19833 semapv:UnspecifiedMatching +OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:FBXO33 semapv:UnspecifiedMatching +OMIM:609103 FBXO33 skos:exactMatch ncbigene:254170 semapv:UnspecifiedMatching +OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:20201 semapv:UnspecifiedMatching +OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:FBXO34 semapv:UnspecifiedMatching +OMIM:609104 FBXO34 skos:exactMatch ncbigene:55030 semapv:UnspecifiedMatching +OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:27020 semapv:UnspecifiedMatching +OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:FBXO36 semapv:UnspecifiedMatching +OMIM:609105 FBXO36 skos:exactMatch ncbigene:130888 semapv:UnspecifiedMatching +OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:28565 semapv:UnspecifiedMatching +OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:FBXO39 semapv:UnspecifiedMatching +OMIM:609106 FBXO39 skos:exactMatch ncbigene:162517 semapv:UnspecifiedMatching +OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:29816 semapv:UnspecifiedMatching +OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:FBXO40 semapv:UnspecifiedMatching +OMIM:609107 FBXO40 skos:exactMatch ncbigene:51725 semapv:UnspecifiedMatching +OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:29409 semapv:UnspecifiedMatching +OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:FBXO41 semapv:UnspecifiedMatching +OMIM:609108 FBXO41 skos:exactMatch ncbigene:150726 semapv:UnspecifiedMatching +OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:29249 semapv:UnspecifiedMatching +OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:FBXO42 semapv:UnspecifiedMatching +OMIM:609109 FBXO42 skos:exactMatch ncbigene:54455 semapv:UnspecifiedMatching +OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:28521 semapv:UnspecifiedMatching +OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:FBXO43 semapv:UnspecifiedMatching +OMIM:609110 FBXO43 skos:exactMatch ncbigene:286151 semapv:UnspecifiedMatching +OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:24847 semapv:UnspecifiedMatching +OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:FBXO44 semapv:UnspecifiedMatching +OMIM:609111 FBXO44 skos:exactMatch ncbigene:93611 semapv:UnspecifiedMatching +OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:29148 semapv:UnspecifiedMatching +OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:FBXO45 semapv:UnspecifiedMatching +OMIM:609112 FBXO45 skos:exactMatch ncbigene:200933 semapv:UnspecifiedMatching +OMIM:609114 DSTN skos:exactMatch hgnc.symbol:15750 semapv:UnspecifiedMatching +OMIM:609114 DSTN skos:exactMatch hgnc.symbol:DSTN semapv:UnspecifiedMatching +OMIM:609114 DSTN skos:exactMatch ncbigene:11034 semapv:UnspecifiedMatching +OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 skos:exactMatch MONDO:0012193 semapv:UnspecifiedMatching +OMIM:609116 respiratory rhythmicity 1n sleep skos:exactMatch UMLS:C1836764 semapv:UnspecifiedMatching +OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:25069 semapv:UnspecifiedMatching +OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:FBXO46 semapv:UnspecifiedMatching +OMIM:609117 FBXO46 skos:exactMatch ncbigene:23403 semapv:UnspecifiedMatching +OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:8761 semapv:UnspecifiedMatching +OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:PDCD10 semapv:UnspecifiedMatching +OMIM:609118 PDCD10 skos:exactMatch ncbigene:11235 semapv:UnspecifiedMatching +OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:23194 semapv:UnspecifiedMatching +OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:THAP11 semapv:UnspecifiedMatching +OMIM:609119 THAP11 skos:exactMatch ncbigene:57215 semapv:UnspecifiedMatching +OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:20819 semapv:UnspecifiedMatching +OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:CATSPER3 semapv:UnspecifiedMatching +OMIM:609120 CATSPER3 skos:exactMatch ncbigene:347732 semapv:UnspecifiedMatching +OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:23220 semapv:UnspecifiedMatching +OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:CATSPER4 semapv:UnspecifiedMatching +OMIM:609121 CATSPER4 skos:exactMatch ncbigene:378807 semapv:UnspecifiedMatching +OMIM:609122 aneurysm, intracranial berry, 3 skos:exactMatch MONDO:0012194 semapv:UnspecifiedMatching +OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:13536 semapv:UnspecifiedMatching +OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:ATP8B4 semapv:UnspecifiedMatching +OMIM:609123 ATP8B4 skos:exactMatch ncbigene:79895 semapv:UnspecifiedMatching +OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:17521 semapv:UnspecifiedMatching +OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:ZNF385A semapv:UnspecifiedMatching +OMIM:609124 ZNF385A skos:exactMatch ncbigene:25946 semapv:UnspecifiedMatching +OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:25078 semapv:UnspecifiedMatching +OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:MOSPD3 semapv:UnspecifiedMatching +OMIM:609125 MOSPD3 skos:exactMatch ncbigene:64598 semapv:UnspecifiedMatching +OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:13540 semapv:UnspecifiedMatching +OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:ATP9A semapv:UnspecifiedMatching +OMIM:609126 ATP9A skos:exactMatch ncbigene:10079 semapv:UnspecifiedMatching +OMIM:609128 arthrogryposis, distal, iia 4 skos:exactMatch MONDO:0012195 semapv:UnspecifiedMatching +OMIM:609129 auditory neuropathy, autosomal dominant 1 skos:exactMatch MONDO:0012196 semapv:UnspecifiedMatching +OMIM:609130 CENPS skos:exactMatch hgnc.symbol:23163 semapv:UnspecifiedMatching +OMIM:609130 CENPS skos:exactMatch hgnc.symbol:CENPS semapv:UnspecifiedMatching +OMIM:609130 CENPS skos:exactMatch ncbigene:378708 semapv:UnspecifiedMatching +OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:2049 semapv:UnspecifiedMatching +OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:CLDN7 semapv:UnspecifiedMatching +OMIM:609131 CLDN7 skos:exactMatch ncbigene:1366 semapv:UnspecifiedMatching +OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:29079 semapv:UnspecifiedMatching +OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:KDM1A semapv:UnspecifiedMatching +OMIM:609132 KDM1A skos:exactMatch ncbigene:23028 semapv:UnspecifiedMatching +OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:25917 semapv:UnspecifiedMatching +OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:FIZ1 semapv:UnspecifiedMatching +OMIM:609133 FIZ1 skos:exactMatch ncbigene:84922 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch UMLS:C1540154 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:21289 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:UBR2 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch ncbigene:23304 semapv:UnspecifiedMatching +OMIM:609135 aplastic anemia skos:exactMatch MONDO:0012197 semapv:UnspecifiedMatching +OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease skos:exactMatch MONDO:0012198 semapv:UnspecifiedMatching +OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:28580 semapv:UnspecifiedMatching +OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:RTP1 semapv:UnspecifiedMatching +OMIM:609137 RTP1 skos:exactMatch ncbigene:132112 semapv:UnspecifiedMatching +OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:32486 semapv:UnspecifiedMatching +OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:RTP2 semapv:UnspecifiedMatching +OMIM:609138 RTP2 skos:exactMatch ncbigene:344892 semapv:UnspecifiedMatching +OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:25786 semapv:UnspecifiedMatching +OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:REEP1 semapv:UnspecifiedMatching +OMIM:609139 REEP1 skos:exactMatch ncbigene:65055 semapv:UnspecifiedMatching +OMIM:609140 corneal dystrophy, posterior polymorphous, 2 skos:exactMatch MONDO:0012199 semapv:UnspecifiedMatching +OMIM:609141 corneal dystrophy, posterior polymorphous, 3 skos:exactMatch MONDO:0012200 semapv:UnspecifiedMatching +OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:1815 semapv:UnspecifiedMatching +OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:CEACAM3 semapv:UnspecifiedMatching +OMIM:609142 CEACAM3 skos:exactMatch ncbigene:1084 semapv:UnspecifiedMatching +OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:24682 semapv:UnspecifiedMatching +OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:FLVCR1 semapv:UnspecifiedMatching +OMIM:609144 FLVCR1 skos:exactMatch ncbigene:28982 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch UMLS:C1826398 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch hgnc.symbol:29866 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch hgnc.symbol:NFASC semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch ncbigene:23114 semapv:UnspecifiedMatching +OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:29550 semapv:UnspecifiedMatching +OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:RIC8A semapv:UnspecifiedMatching +OMIM:609146 RIC8A skos:exactMatch ncbigene:60626 semapv:UnspecifiedMatching +OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:25555 semapv:UnspecifiedMatching +OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:RIC8B semapv:UnspecifiedMatching +OMIM:609147 RIC8B skos:exactMatch ncbigene:55188 semapv:UnspecifiedMatching +OMIM:609148 malaria, mild, susceptibility to skos:exactMatch MONDO:0012202 semapv:UnspecifiedMatching +OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:23097 semapv:UnspecifiedMatching +OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:SLC29A4 semapv:UnspecifiedMatching +OMIM:609149 SLC29A4 skos:exactMatch ncbigene:222962 semapv:UnspecifiedMatching +OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:24343 semapv:UnspecifiedMatching +OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:CXXC1 semapv:UnspecifiedMatching +OMIM:609150 CXXC1 skos:exactMatch ncbigene:30827 semapv:UnspecifiedMatching +OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:30600 semapv:UnspecifiedMatching +OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:UBXN11 semapv:UnspecifiedMatching +OMIM:609151 UBXN11 skos:exactMatch ncbigene:91544 semapv:UnspecifiedMatching +OMIM:609152 hyperthyroidism, nonautoimmune skos:exactMatch MONDO:0012203 semapv:UnspecifiedMatching +OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak skos:exactMatch MONDO:0012204 semapv:UnspecifiedMatching +OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:740 semapv:UnspecifiedMatching +OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:ASCL3 semapv:UnspecifiedMatching +OMIM:609154 ASCL3 skos:exactMatch ncbigene:56676 semapv:UnspecifiedMatching +OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:24311 semapv:UnspecifiedMatching +OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:ASCL4 semapv:UnspecifiedMatching +OMIM:609155 ASCL4 skos:exactMatch ncbigene:121549 semapv:UnspecifiedMatching +OMIM:609156 NCLN skos:exactMatch hgnc.symbol:26923 semapv:UnspecifiedMatching +OMIM:609156 NCLN skos:exactMatch hgnc.symbol:NCLN semapv:UnspecifiedMatching +OMIM:609156 NCLN skos:exactMatch ncbigene:56926 semapv:UnspecifiedMatching +OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:30060 semapv:UnspecifiedMatching +OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:NOMO1 semapv:UnspecifiedMatching +OMIM:609157 NOMO1 skos:exactMatch ncbigene:23420 semapv:UnspecifiedMatching +OMIM:609158 NOMO2 skos:exactMatch hgnc.symbol:22652 semapv:UnspecifiedMatching +OMIM:609158 NOMO2 skos:exactMatch hgnc.symbol:NOMO2 semapv:UnspecifiedMatching +OMIM:609158 NOMO2 skos:exactMatch ncbigene:283820 semapv:UnspecifiedMatching +OMIM:609159 NOMO3 skos:exactMatch hgnc.symbol:25242 semapv:UnspecifiedMatching +OMIM:609159 NOMO3 skos:exactMatch hgnc.symbol:NOMO3 semapv:UnspecifiedMatching +OMIM:609159 NOMO3 skos:exactMatch ncbigene:408050 semapv:UnspecifiedMatching +OMIM:609161 striatal degeneration, autosomal dominant 1 skos:exactMatch MONDO:0012205 semapv:UnspecifiedMatching +OMIM:609162 czech dysplasia skos:exactMatch MONDO:0012206 semapv:UnspecifiedMatching +OMIM:609163 HCAR2 skos:exactMatch hgnc.symbol:24827 semapv:UnspecifiedMatching +OMIM:609163 HCAR2 skos:exactMatch hgnc.symbol:HCAR2 semapv:UnspecifiedMatching +OMIM:609163 HCAR2 skos:exactMatch ncbigene:338442 semapv:UnspecifiedMatching +OMIM:609164 umbilicus, familial flat skos:exactMatch MONDO:0012207 semapv:UnspecifiedMatching +OMIM:609165 ichthyosis with confetti skos:exactMatch MONDO:0012208 semapv:UnspecifiedMatching +OMIM:609166 branchiogenic-deafness syndrome skos:exactMatch MONDO:0012209 semapv:UnspecifiedMatching +OMIM:609168 SGOL1 skos:exactMatch hgnc.symbol:25088 semapv:UnspecifiedMatching +OMIM:609168 SGOL1 skos:exactMatch hgnc.symbol:SGO1 semapv:UnspecifiedMatching +OMIM:609168 SGOL1 skos:exactMatch ncbigene:151648 semapv:UnspecifiedMatching +OMIM:609169 GAPDHS skos:exactMatch hgnc.symbol:24864 semapv:UnspecifiedMatching +OMIM:609169 GAPDHS skos:exactMatch hgnc.symbol:GAPDHS semapv:UnspecifiedMatching +OMIM:609169 GAPDHS skos:exactMatch ncbigene:26330 semapv:UnspecifiedMatching +OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:18311 semapv:UnspecifiedMatching +OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:ERP44 semapv:UnspecifiedMatching +OMIM:609170 TXNDC4 skos:exactMatch ncbigene:23071 semapv:UnspecifiedMatching +OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:17408 semapv:UnspecifiedMatching +OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:CDC42EP5 semapv:UnspecifiedMatching +OMIM:609171 CDC42EP5 skos:exactMatch ncbigene:148170 semapv:UnspecifiedMatching +OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:14941 semapv:UnspecifiedMatching +OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:PPP1R16A semapv:UnspecifiedMatching +OMIM:609172 PPP1R16A skos:exactMatch ncbigene:84988 semapv:UnspecifiedMatching +OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:24054 semapv:UnspecifiedMatching +OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:KNL1 semapv:UnspecifiedMatching +OMIM:609173 KNL1 skos:exactMatch ncbigene:57082 semapv:UnspecifiedMatching +OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:24548 semapv:UnspecifiedMatching +OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:NSL1 semapv:UnspecifiedMatching +OMIM:609174 NSL1 skos:exactMatch ncbigene:25936 semapv:UnspecifiedMatching +OMIM:609175 DSN1 skos:exactMatch hgnc.symbol:16165 semapv:UnspecifiedMatching +OMIM:609175 DSN1 skos:exactMatch hgnc.symbol:DSN1 semapv:UnspecifiedMatching +OMIM:609175 DSN1 skos:exactMatch ncbigene:79980 semapv:UnspecifiedMatching +OMIM:609176 PMF1 skos:exactMatch hgnc.symbol:9112 semapv:UnspecifiedMatching +OMIM:609176 PMF1 skos:exactMatch hgnc.symbol:PMF1 semapv:UnspecifiedMatching +OMIM:609176 PMF1 skos:exactMatch ncbigene:11243 semapv:UnspecifiedMatching +OMIM:609177 ZWINT skos:exactMatch hgnc.symbol:13195 semapv:UnspecifiedMatching +OMIM:609177 ZWINT skos:exactMatch hgnc.symbol:ZWINT semapv:UnspecifiedMatching +OMIM:609177 ZWINT skos:exactMatch ncbigene:11130 semapv:UnspecifiedMatching +OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:24967 semapv:UnspecifiedMatching +OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:MIS12 semapv:UnspecifiedMatching +OMIM:609178 MIS12 skos:exactMatch ncbigene:79003 semapv:UnspecifiedMatching +OMIM:609179 migraine with aura, susceptibility to, 7 skos:exactMatch MONDO:0012210 semapv:UnspecifiedMatching +OMIM:609180 congenital disorder of glycosylation, iia if skos:exactMatch MONDO:0012211 semapv:UnspecifiedMatching +OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:3095 semapv:UnspecifiedMatching +OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:DYRK4 semapv:UnspecifiedMatching +OMIM:609181 DYRK4 skos:exactMatch ncbigene:8798 semapv:UnspecifiedMatching +OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:20799 semapv:UnspecifiedMatching +OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:SLC35D2 semapv:UnspecifiedMatching +OMIM:609182 SLC35D2 skos:exactMatch ncbigene:11046 semapv:UnspecifiedMatching +OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:24114 semapv:UnspecifiedMatching +OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:AURKAIP1 semapv:UnspecifiedMatching +OMIM:609183 AURKAIP1 skos:exactMatch ncbigene:54998 semapv:UnspecifiedMatching +OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:6322 semapv:UnspecifiedMatching +OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:KIF4B semapv:UnspecifiedMatching +OMIM:609184 KIF4B skos:exactMatch ncbigene:285643 semapv:UnspecifiedMatching +OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:18513 semapv:UnspecifiedMatching +OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:ZHX2 semapv:UnspecifiedMatching +OMIM:609185 ZHX2 skos:exactMatch ncbigene:22882 semapv:UnspecifiedMatching +OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:28358 semapv:UnspecifiedMatching +OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:D2HGDH semapv:UnspecifiedMatching +OMIM:609186 D2HGDH skos:exactMatch ncbigene:728294 semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch UMLS:C0342873 semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch UMLS:C1423901 semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:16001 semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:SUGCT semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch ncbigene:79783 semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch UMLS:C1313961 semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch UMLS:C1423902 semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:16002 semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:MPLKIP semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch ncbigene:136647 semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch UMLS:C1427233 semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:20995 semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:ASF1A semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch ncbigene:25842 semapv:UnspecifiedMatching +OMIM:609190 ASF1B skos:exactMatch UMLS:C1427234 semapv:UnspecifiedMatching +OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:20996 semapv:UnspecifiedMatching +OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:ASF1B semapv:UnspecifiedMatching +OMIM:609190 ASF1B skos:exactMatch ncbigene:55723 semapv:UnspecifiedMatching +OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:1170 semapv:UnspecifiedMatching +OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:AKIP1 semapv:UnspecifiedMatching +OMIM:609191 AKIP1 skos:exactMatch ncbigene:56672 semapv:UnspecifiedMatching +OMIM:609192 loeys-dietz syndrome 1 skos:exactMatch MONDO:0012212 semapv:UnspecifiedMatching +OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:19742 semapv:UnspecifiedMatching +OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:LRR1 semapv:UnspecifiedMatching +OMIM:609193 LRR1 skos:exactMatch ncbigene:122769 semapv:UnspecifiedMatching +OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:25097 semapv:UnspecifiedMatching +OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:CABLES1 semapv:UnspecifiedMatching +OMIM:609194 CABLES1 skos:exactMatch ncbigene:91768 semapv:UnspecifiedMatching +OMIM:609195 spastic paraplegia 26, autosomal recessive skos:exactMatch MONDO:0012213 semapv:UnspecifiedMatching +OMIM:609196 MRAP skos:exactMatch hgnc.symbol:1304 semapv:UnspecifiedMatching +OMIM:609196 MRAP skos:exactMatch hgnc.symbol:MRAP semapv:UnspecifiedMatching +OMIM:609196 MRAP skos:exactMatch ncbigene:56246 semapv:UnspecifiedMatching +OMIM:609197 glucocorticoid deficiency 3 skos:exactMatch MONDO:0012214 semapv:UnspecifiedMatching +OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:14632 semapv:UnspecifiedMatching +OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:ADAMTSL1 semapv:UnspecifiedMatching +OMIM:609198 ADAMTSL1 skos:exactMatch ncbigene:92949 semapv:UnspecifiedMatching +OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:14633 semapv:UnspecifiedMatching +OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:ADAMTSL3 semapv:UnspecifiedMatching +OMIM:609199 ADAMTSL3 skos:exactMatch ncbigene:57188 semapv:UnspecifiedMatching +OMIM:609200 myopathy, myofibrillar, 3 skos:exactMatch MONDO:0012215 semapv:UnspecifiedMatching +OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:29884 semapv:UnspecifiedMatching +OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:UBASH3B semapv:UnspecifiedMatching +OMIM:609201 UBASH3B skos:exactMatch ncbigene:84959 semapv:UnspecifiedMatching +OMIM:609202 SCGN skos:exactMatch hgnc.symbol:16941 semapv:UnspecifiedMatching +OMIM:609202 SCGN skos:exactMatch hgnc.symbol:SCGN semapv:UnspecifiedMatching +OMIM:609202 SCGN skos:exactMatch ncbigene:10590 semapv:UnspecifiedMatching +OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:17591 semapv:UnspecifiedMatching +OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:CLDN23 semapv:UnspecifiedMatching +OMIM:609203 CLDN23 skos:exactMatch ncbigene:137075 semapv:UnspecifiedMatching +OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:14048 semapv:UnspecifiedMatching +OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:MRPS16 semapv:UnspecifiedMatching +OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch ncbigene:51021 semapv:UnspecifiedMatching +OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:17294 semapv:UnspecifiedMatching +OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:DAB2IP semapv:UnspecifiedMatching +OMIM:609205 DAB2IP skos:exactMatch ncbigene:153090 semapv:UnspecifiedMatching +OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:3212 semapv:UnspecifiedMatching +OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:EEF1E1 semapv:UnspecifiedMatching +OMIM:609206 EEF1E1 skos:exactMatch ncbigene:9521 semapv:UnspecifiedMatching +OMIM:609207 MREG skos:exactMatch hgnc.symbol:25478 semapv:UnspecifiedMatching +OMIM:609207 MREG skos:exactMatch hgnc.symbol:MREG semapv:UnspecifiedMatching +OMIM:609207 MREG skos:exactMatch ncbigene:55686 semapv:UnspecifiedMatching +OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:25460 semapv:UnspecifiedMatching +OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:KAZALD1 semapv:UnspecifiedMatching +OMIM:609208 KAZALD1 skos:exactMatch ncbigene:81621 semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C1424660 semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:16951 semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:IVNS1ABP semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch ncbigene:10625 semapv:UnspecifiedMatching +OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:2039 semapv:UnspecifiedMatching +OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:CLDN18 semapv:UnspecifiedMatching +OMIM:609210 CLDN18 skos:exactMatch ncbigene:51208 semapv:UnspecifiedMatching +OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:29827 semapv:UnspecifiedMatching +OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:MYL12B semapv:UnspecifiedMatching +OMIM:609211 MYL12B skos:exactMatch ncbigene:103910 semapv:UnspecifiedMatching +OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:16448 semapv:UnspecifiedMatching +OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:ASRGL1 semapv:UnspecifiedMatching +OMIM:609212 ASRGL1 skos:exactMatch ncbigene:80150 semapv:UnspecifiedMatching +OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:18276 semapv:UnspecifiedMatching +OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:SEC61A1 semapv:UnspecifiedMatching +OMIM:609213 SEC61A1 skos:exactMatch ncbigene:29927 semapv:UnspecifiedMatching +OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:16993 semapv:UnspecifiedMatching +OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:SEC61B semapv:UnspecifiedMatching +OMIM:609214 SEC61B skos:exactMatch ncbigene:10952 semapv:UnspecifiedMatching +OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:18277 semapv:UnspecifiedMatching +OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:SEC61G semapv:UnspecifiedMatching +OMIM:609215 SEC61G skos:exactMatch ncbigene:23480 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch UMLS:C1539844 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:30622 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:SPIRE1 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch ncbigene:56907 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch UMLS:C1539845 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:30623 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:SPIRE2 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch ncbigene:84501 semapv:UnspecifiedMatching +OMIM:609218 foveal hypoplasia 2 skos:exactMatch MONDO:0012216 semapv:UnspecifiedMatching +OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:20141 semapv:UnspecifiedMatching +OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:NUDT14 semapv:UnspecifiedMatching +OMIM:609219 NUDT14 skos:exactMatch ncbigene:256281 semapv:UnspecifiedMatching +OMIM:609220 bruck syndrome 2 skos:exactMatch MONDO:0012217 semapv:UnspecifiedMatching +OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:29830 semapv:UnspecifiedMatching +OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:NAT10 semapv:UnspecifiedMatching +OMIM:609221 NAT10 skos:exactMatch ncbigene:55226 semapv:UnspecifiedMatching +OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch MONDO:0012218 semapv:UnspecifiedMatching +OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch UMLS:C2674987 semapv:UnspecifiedMatching +OMIM:609223 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia skos:exactMatch MONDO:0012219 semapv:UnspecifiedMatching +OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:25471 semapv:UnspecifiedMatching +OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:WIPI1 semapv:UnspecifiedMatching +OMIM:609224 WIPI1 skos:exactMatch ncbigene:55062 semapv:UnspecifiedMatching +OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:32225 semapv:UnspecifiedMatching +OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:WIPI2 semapv:UnspecifiedMatching +OMIM:609225 WIPI2 skos:exactMatch ncbigene:26100 semapv:UnspecifiedMatching +OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:25072 semapv:UnspecifiedMatching +OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:WDR45B semapv:UnspecifiedMatching +OMIM:609226 WDR45B skos:exactMatch ncbigene:56270 semapv:UnspecifiedMatching +OMIM:609227 griscelli syndrome, iia 3 skos:exactMatch MONDO:0012220 semapv:UnspecifiedMatching +OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:8050 semapv:UnspecifiedMatching +OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:NUDT3 semapv:UnspecifiedMatching +OMIM:609228 NUDT3 skos:exactMatch ncbigene:11165 semapv:UnspecifiedMatching +OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:8051 semapv:UnspecifiedMatching +OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:NUDT4 semapv:UnspecifiedMatching +OMIM:609229 NUDT4 skos:exactMatch ncbigene:11163 semapv:UnspecifiedMatching +OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:8052 semapv:UnspecifiedMatching +OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:NUDT5 semapv:UnspecifiedMatching +OMIM:609230 NUDT5 skos:exactMatch ncbigene:11164 semapv:UnspecifiedMatching +OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:8054 semapv:UnspecifiedMatching +OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:NUDT7 semapv:UnspecifiedMatching +OMIM:609231 NUDT7 skos:exactMatch ncbigene:283927 semapv:UnspecifiedMatching +OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:18826 semapv:UnspecifiedMatching +OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:NUDT12 semapv:UnspecifiedMatching +OMIM:609232 NUDT12 skos:exactMatch ncbigene:83594 semapv:UnspecifiedMatching +OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:18827 semapv:UnspecifiedMatching +OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:NUDT13 semapv:UnspecifiedMatching +OMIM:609233 NUDT13 skos:exactMatch ncbigene:25961 semapv:UnspecifiedMatching +OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:3254 semapv:UnspecifiedMatching +OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:EIF2A semapv:UnspecifiedMatching +OMIM:609234 EIF2A skos:exactMatch ncbigene:83939 semapv:UnspecifiedMatching +OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:18994 semapv:UnspecifiedMatching +OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:BRSK1 semapv:UnspecifiedMatching +OMIM:609235 BRSK1 skos:exactMatch ncbigene:84446 semapv:UnspecifiedMatching +OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:11405 semapv:UnspecifiedMatching +OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:BRSK2 semapv:UnspecifiedMatching +OMIM:609236 BRSK2 skos:exactMatch ncbigene:9024 semapv:UnspecifiedMatching +OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:28949 semapv:UnspecifiedMatching +OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:IQCB1 semapv:UnspecifiedMatching +OMIM:609237 IQCB1 skos:exactMatch ncbigene:9657 semapv:UnspecifiedMatching +OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:24663 semapv:UnspecifiedMatching +OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:RABGAP1L semapv:UnspecifiedMatching +OMIM:609238 RABGAP1L skos:exactMatch ncbigene:9910 semapv:UnspecifiedMatching +OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:15520 semapv:UnspecifiedMatching +OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:LPAR6 semapv:UnspecifiedMatching +OMIM:609239 LPAR6 skos:exactMatch ncbigene:10161 semapv:UnspecifiedMatching +OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:19682 semapv:UnspecifiedMatching +OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:HASPIN semapv:UnspecifiedMatching +OMIM:609240 HASPIN skos:exactMatch ncbigene:83903 semapv:UnspecifiedMatching +OMIM:609241 schindler disease, iia 1 skos:exactMatch MONDO:0012221 semapv:UnspecifiedMatching +OMIM:609242 kanzaki disease skos:exactMatch MONDO:0012222 semapv:UnspecifiedMatching +OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:16793 semapv:UnspecifiedMatching +OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:RAET1E semapv:UnspecifiedMatching +OMIM:609243 RAET1E skos:exactMatch ncbigene:135250 semapv:UnspecifiedMatching +OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:16795 semapv:UnspecifiedMatching +OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:RAET1G semapv:UnspecifiedMatching +OMIM:609244 RAET1G skos:exactMatch ncbigene:353091 semapv:UnspecifiedMatching +OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:29501 semapv:UnspecifiedMatching +OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:GPSM2 semapv:UnspecifiedMatching +OMIM:609245 GPSM2 skos:exactMatch ncbigene:29899 semapv:UnspecifiedMatching +OMIM:609246 PDXP skos:exactMatch hgnc.symbol:30259 semapv:UnspecifiedMatching +OMIM:609246 PDXP skos:exactMatch hgnc.symbol:PDXP semapv:UnspecifiedMatching +OMIM:609246 PDXP skos:exactMatch ncbigene:57026 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch UMLS:C1419415 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:10057 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:RNF13 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch ncbigene:11342 semapv:UnspecifiedMatching +OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:24521 semapv:UnspecifiedMatching +OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:HERC4 semapv:UnspecifiedMatching +OMIM:609248 HERC4 skos:exactMatch ncbigene:26091 semapv:UnspecifiedMatching +OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:26072 semapv:UnspecifiedMatching +OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:HERC6 semapv:UnspecifiedMatching +OMIM:609249 HERC6 skos:exactMatch ncbigene:55008 semapv:UnspecifiedMatching +OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch MONDO:0012223 semapv:UnspecifiedMatching +OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:26431 semapv:UnspecifiedMatching +OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:FCRLB semapv:UnspecifiedMatching +OMIM:609251 FCRLB skos:exactMatch ncbigene:127943 semapv:UnspecifiedMatching +OMIM:609252 LIPI skos:exactMatch hgnc.symbol:18821 semapv:UnspecifiedMatching +OMIM:609252 LIPI skos:exactMatch hgnc.symbol:LIPI semapv:UnspecifiedMatching +OMIM:609252 LIPI skos:exactMatch ncbigene:149998 semapv:UnspecifiedMatching +OMIM:609253 febrile seizures, familial, 6 skos:exactMatch MONDO:0012224 semapv:UnspecifiedMatching +OMIM:609254 senior-loken syndrome 5 skos:exactMatch MONDO:0012225 semapv:UnspecifiedMatching +OMIM:609255 febrile seizures, familial, 5 skos:exactMatch MONDO:0012226 semapv:UnspecifiedMatching +OMIM:609256 myopia 7 skos:exactMatch MONDO:0012227 semapv:UnspecifiedMatching +OMIM:609257 myopia 8 skos:exactMatch MONDO:0012228 semapv:UnspecifiedMatching +OMIM:609258 myopia 9 skos:exactMatch MONDO:0012229 semapv:UnspecifiedMatching +OMIM:609259 myopia 10 skos:exactMatch MONDO:0012230 semapv:UnspecifiedMatching +OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch MONDO:0012231 semapv:UnspecifiedMatching +OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching +OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C1836485 semapv:UnspecifiedMatching +OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching +OMIM:609261 stuttering, familial persistent, 2 skos:exactMatch MONDO:0012232 semapv:UnspecifiedMatching +OMIM:609262 CRBN skos:exactMatch hgnc.symbol:30185 semapv:UnspecifiedMatching +OMIM:609262 CRBN skos:exactMatch hgnc.symbol:CRBN semapv:UnspecifiedMatching +OMIM:609262 CRBN skos:exactMatch ncbigene:51185 semapv:UnspecifiedMatching +OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:30379 semapv:UnspecifiedMatching +OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:SEH1L semapv:UnspecifiedMatching +OMIM:609263 SEH1L skos:exactMatch ncbigene:81929 semapv:UnspecifiedMatching +OMIM:609264 NUP37 skos:exactMatch hgnc.symbol:29929 semapv:UnspecifiedMatching +OMIM:609264 NUP37 skos:exactMatch hgnc.symbol:NUP37 semapv:UnspecifiedMatching +OMIM:609264 NUP37 skos:exactMatch ncbigene:79023 semapv:UnspecifiedMatching +OMIM:609265 tumor predisposition syndrome 4 skos:exactMatch MONDO:0012233 semapv:UnspecifiedMatching +OMIM:609267 MAGEF1 skos:exactMatch hgnc.symbol:29639 semapv:UnspecifiedMatching +OMIM:609267 MAGEF1 skos:exactMatch hgnc.symbol:MAGEF1 semapv:UnspecifiedMatching +OMIM:609267 MAGEF1 skos:exactMatch ncbigene:64110 semapv:UnspecifiedMatching +OMIM:609268 SREK1 skos:exactMatch hgnc.symbol:17882 semapv:UnspecifiedMatching +OMIM:609268 SREK1 skos:exactMatch hgnc.symbol:SREK1 semapv:UnspecifiedMatching +OMIM:609268 SREK1 skos:exactMatch ncbigene:140890 semapv:UnspecifiedMatching +OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:21580 semapv:UnspecifiedMatching +OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:KIAA0319 semapv:UnspecifiedMatching +OMIM:609269 KIAA0319 skos:exactMatch ncbigene:9856 semapv:UnspecifiedMatching +OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 skos:exactMatch MONDO:0012235 semapv:UnspecifiedMatching +OMIM:609271 keratoconus 4 skos:exactMatch MONDO:0012236 semapv:UnspecifiedMatching +OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:14118 semapv:UnspecifiedMatching +OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:TPSD1 semapv:UnspecifiedMatching +OMIM:609272 TPSD1 skos:exactMatch ncbigene:23430 semapv:UnspecifiedMatching +OMIM:609273 nemaline myopathy 6 skos:exactMatch MONDO:0012237 semapv:UnspecifiedMatching +OMIM:609273 nemaline myopathy 6 skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching +OMIM:609273 nemaline myopathy 6 skos:exactMatch UMLS:C1836472 semapv:UnspecifiedMatching +OMIM:609274 NACA2 skos:exactMatch hgnc.symbol:23290 semapv:UnspecifiedMatching +OMIM:609274 NACA2 skos:exactMatch hgnc.symbol:NACA2 semapv:UnspecifiedMatching +OMIM:609274 NACA2 skos:exactMatch ncbigene:342538 semapv:UnspecifiedMatching +OMIM:609275 RAB3GAP2 skos:exactMatch hgnc.symbol:17168 semapv:UnspecifiedMatching +OMIM:609275 RAB3GAP2 skos:exactMatch hgnc.symbol:RAB3GAP2 semapv:UnspecifiedMatching +OMIM:609275 RAB3GAP2 skos:exactMatch ncbigene:25782 semapv:UnspecifiedMatching +OMIM:609276 NCAPD3 skos:exactMatch hgnc.symbol:28952 semapv:UnspecifiedMatching +OMIM:609276 NCAPD3 skos:exactMatch hgnc.symbol:NCAPD3 semapv:UnspecifiedMatching +OMIM:609276 NCAPD3 skos:exactMatch ncbigene:23310 semapv:UnspecifiedMatching +OMIM:609277 MOCS3 skos:exactMatch hgnc.symbol:15765 semapv:UnspecifiedMatching +OMIM:609277 MOCS3 skos:exactMatch hgnc.symbol:MOCS3 semapv:UnspecifiedMatching +OMIM:609277 MOCS3 skos:exactMatch ncbigene:27304 semapv:UnspecifiedMatching +OMIM:609278 IZUMO1 skos:exactMatch UMLS:C1825632 semapv:UnspecifiedMatching +OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:28539 semapv:UnspecifiedMatching +OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:IZUMO1 semapv:UnspecifiedMatching +OMIM:609278 IZUMO1 skos:exactMatch ncbigene:284359 semapv:UnspecifiedMatching +OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:17272 semapv:UnspecifiedMatching +OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:CENPJ semapv:UnspecifiedMatching +OMIM:609279 CENPJ skos:exactMatch ncbigene:55835 semapv:UnspecifiedMatching +OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:19687 semapv:UnspecifiedMatching +OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:EIF2AK4 semapv:UnspecifiedMatching +OMIM:609280 EIF2AK4 skos:exactMatch ncbigene:440275 semapv:UnspecifiedMatching +OMIM:609281 MOB1A skos:exactMatch hgnc.symbol:16015 semapv:UnspecifiedMatching +OMIM:609281 MOB1A skos:exactMatch hgnc.symbol:MOB1A semapv:UnspecifiedMatching +OMIM:609281 MOB1A skos:exactMatch ncbigene:55233 semapv:UnspecifiedMatching +OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:29801 semapv:UnspecifiedMatching +OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:MOB1B semapv:UnspecifiedMatching +OMIM:609282 MOB1B skos:exactMatch ncbigene:92597 semapv:UnspecifiedMatching +OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch MONDO:0012238 semapv:UnspecifiedMatching +OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching +OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch MONDO:0012239 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C1836448 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C3714994 semapv:UnspecifiedMatching +OMIM:609285 congenital myopathy 23 skos:exactMatch MONDO:0012240 semapv:UnspecifiedMatching +OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch MONDO:0012241 semapv:UnspecifiedMatching +OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching +OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching +OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:10833 semapv:UnspecifiedMatching +OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:SH3GLB1 semapv:UnspecifiedMatching +OMIM:609287 SH3GLB1 skos:exactMatch ncbigene:51100 semapv:UnspecifiedMatching +OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:10834 semapv:UnspecifiedMatching +OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:SH3GLB2 semapv:UnspecifiedMatching +OMIM:609288 SH3GLB2 skos:exactMatch ncbigene:56904 semapv:UnspecifiedMatching +OMIM:609289 syncope, familial vasovagal skos:exactMatch MONDO:0012242 semapv:UnspecifiedMatching +OMIM:609290 AK3 skos:exactMatch hgnc.symbol:17376 semapv:UnspecifiedMatching +OMIM:609290 AK3 skos:exactMatch hgnc.symbol:AK3 semapv:UnspecifiedMatching +OMIM:609290 AK3 skos:exactMatch ncbigene:50808 semapv:UnspecifiedMatching +OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:20249 semapv:UnspecifiedMatching +OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:SPRED1 semapv:UnspecifiedMatching +OMIM:609291 SPRED1 skos:exactMatch ncbigene:161742 semapv:UnspecifiedMatching +OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:17722 semapv:UnspecifiedMatching +OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:SPRED2 semapv:UnspecifiedMatching +OMIM:609292 SPRED2 skos:exactMatch ncbigene:200734 semapv:UnspecifiedMatching +OMIM:609293 SPRED3 skos:exactMatch hgnc.symbol:31041 semapv:UnspecifiedMatching +OMIM:609293 SPRED3 skos:exactMatch hgnc.symbol:SPRED3 semapv:UnspecifiedMatching +OMIM:609293 SPRED3 skos:exactMatch ncbigene:399473 semapv:UnspecifiedMatching +OMIM:609294 SEMA6C skos:exactMatch UMLS:C1419958 semapv:UnspecifiedMatching +OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:10740 semapv:UnspecifiedMatching +OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:SEMA6C semapv:UnspecifiedMatching +OMIM:609294 SEMA6C skos:exactMatch ncbigene:10500 semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch UMLS:C1539745 semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:16770 semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:SEMA6D semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch ncbigene:80031 semapv:UnspecifiedMatching +OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch MONDO:0012243 semapv:UnspecifiedMatching +OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:10736 semapv:UnspecifiedMatching +OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:SEMA5A semapv:UnspecifiedMatching +OMIM:609297 SEMA5A skos:exactMatch ncbigene:9037 semapv:UnspecifiedMatching +OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:10737 semapv:UnspecifiedMatching +OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:SEMA5B semapv:UnspecifiedMatching +OMIM:609298 SEMA5B skos:exactMatch ncbigene:54437 semapv:UnspecifiedMatching +OMIM:609299 prostate cancer, hereditary, 5 skos:exactMatch MONDO:0012244 semapv:UnspecifiedMatching +OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:2593 semapv:UnspecifiedMatching +OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:CYP17A1 semapv:UnspecifiedMatching +OMIM:609300 CYP17A1 skos:exactMatch ncbigene:1586 semapv:UnspecifiedMatching +OMIM:609301 PERP skos:exactMatch hgnc.symbol:17637 semapv:UnspecifiedMatching +OMIM:609301 PERP skos:exactMatch hgnc.symbol:PERP semapv:UnspecifiedMatching +OMIM:609301 PERP skos:exactMatch ncbigene:64065 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch UMLS:C1426556 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch hgnc.symbol:19954 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch hgnc.symbol:SLC25A22 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch ncbigene:79751 semapv:UnspecifiedMatching +OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:10988 semapv:UnspecifiedMatching +OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:SLC25A18 semapv:UnspecifiedMatching +OMIM:609303 SLC25A18 skos:exactMatch ncbigene:83733 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch MONDO:0012245 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching +OMIM:609305 LXN skos:exactMatch hgnc.symbol:13347 semapv:UnspecifiedMatching +OMIM:609305 LXN skos:exactMatch hgnc.symbol:LXN semapv:UnspecifiedMatching +OMIM:609305 LXN skos:exactMatch ncbigene:56925 semapv:UnspecifiedMatching +OMIM:609306 spinocerebellar ataxia 26 skos:exactMatch MONDO:0012246 semapv:UnspecifiedMatching +OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch MONDO:0012248 semapv:UnspecifiedMatching +OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch Orphanet:86812 semapv:UnspecifiedMatching +OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C0879290 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C4017191 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:7325 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:MSH2 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch ncbigene:4436 semapv:UnspecifiedMatching +OMIM:609310 lynch syndrome 2 skos:exactMatch MONDO:0012249 semapv:UnspecifiedMatching +OMIM:609311 charcot-marie-tooth disease, iia 4h skos:exactMatch MONDO:0012250 semapv:UnspecifiedMatching +OMIM:609312 DBH skos:exactMatch hgnc.symbol:2689 semapv:UnspecifiedMatching +OMIM:609312 DBH skos:exactMatch hgnc.symbol:DBH semapv:UnspecifiedMatching +OMIM:609312 DBH skos:exactMatch ncbigene:1621 semapv:UnspecifiedMatching +OMIM:609313 mednik syndrome skos:exactMatch MONDO:0012251 semapv:UnspecifiedMatching +OMIM:609313 mednik syndrome skos:exactMatch Orphanet:171851 semapv:UnspecifiedMatching +OMIM:609313 mednik syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching +OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:12371 semapv:UnspecifiedMatching +OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:RSPH1 semapv:UnspecifiedMatching +OMIM:609314 RSPH1 skos:exactMatch ncbigene:89765 semapv:UnspecifiedMatching +OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:16278 semapv:UnspecifiedMatching +OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:TRIM7 semapv:UnspecifiedMatching +OMIM:609315 TRIM7 skos:exactMatch ncbigene:81786 semapv:UnspecifiedMatching +OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:16289 semapv:UnspecifiedMatching +OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:TRIM31 semapv:UnspecifiedMatching +OMIM:609316 TRIM31 skos:exactMatch ncbigene:11074 semapv:UnspecifiedMatching +OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:16280 semapv:UnspecifiedMatching +OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:TRIM36 semapv:UnspecifiedMatching +OMIM:609317 TRIM36 skos:exactMatch ncbigene:55521 semapv:UnspecifiedMatching +OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:19018 semapv:UnspecifiedMatching +OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:TRIM45 semapv:UnspecifiedMatching +OMIM:609318 TRIM45 skos:exactMatch ncbigene:80263 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch UMLS:C1822613 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:25403 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:SASS6 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch ncbigene:163786 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch MONDO:0012252 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:231108 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:69077 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C0206743 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching +OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:18003 semapv:UnspecifiedMatching +OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:OLIG3 semapv:UnspecifiedMatching +OMIM:609323 OLIG3 skos:exactMatch ncbigene:167826 semapv:UnspecifiedMatching +OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia skos:exactMatch MONDO:0012253 semapv:UnspecifiedMatching +OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses skos:exactMatch MONDO:0012254 semapv:UnspecifiedMatching +OMIM:609326 MIR1-1 skos:exactMatch UMLS:C1537699 semapv:UnspecifiedMatching +OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:31499 semapv:UnspecifiedMatching +OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:MIR1-1 semapv:UnspecifiedMatching +OMIM:609326 MIR1-1 skos:exactMatch ncbigene:406904 semapv:UnspecifiedMatching +OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:31502 semapv:UnspecifiedMatching +OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:MIR124-1 semapv:UnspecifiedMatching +OMIM:609327 MIR124-1 skos:exactMatch ncbigene:406907 semapv:UnspecifiedMatching +OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:14859 semapv:UnspecifiedMatching +OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:UCK1 semapv:UnspecifiedMatching +OMIM:609328 UCK1 skos:exactMatch ncbigene:83549 semapv:UnspecifiedMatching +OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:12562 semapv:UnspecifiedMatching +OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:UCK2 semapv:UnspecifiedMatching +OMIM:609329 UCK2 skos:exactMatch ncbigene:7371 semapv:UnspecifiedMatching +OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:29953 semapv:UnspecifiedMatching +OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:OIT3 semapv:UnspecifiedMatching +OMIM:609330 OIT3 skos:exactMatch ncbigene:170392 semapv:UnspecifiedMatching +OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:16093 semapv:UnspecifiedMatching +OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:BHLHE23 semapv:UnspecifiedMatching +OMIM:609331 BHLHE23 skos:exactMatch ncbigene:128408 semapv:UnspecifiedMatching +OMIM:609332 TTC7A skos:exactMatch hgnc.symbol:19750 semapv:UnspecifiedMatching +OMIM:609332 TTC7A skos:exactMatch hgnc.symbol:TTC7A semapv:UnspecifiedMatching +OMIM:609332 TTC7A skos:exactMatch ncbigene:57217 semapv:UnspecifiedMatching +OMIM:609333 TAAR1 skos:exactMatch hgnc.symbol:17734 semapv:UnspecifiedMatching +OMIM:609333 TAAR1 skos:exactMatch hgnc.symbol:TAAR1 semapv:UnspecifiedMatching +OMIM:609333 TAAR1 skos:exactMatch ncbigene:134864 semapv:UnspecifiedMatching +OMIM:609334 chromosome 18 pericentric inversion skos:exactMatch MONDO:0012255 semapv:UnspecifiedMatching +OMIM:609335 ODR4 skos:exactMatch hgnc.symbol:24299 semapv:UnspecifiedMatching +OMIM:609335 ODR4 skos:exactMatch hgnc.symbol:ODR4 semapv:UnspecifiedMatching +OMIM:609335 ODR4 skos:exactMatch ncbigene:54953 semapv:UnspecifiedMatching +OMIM:609336 ANGPTL6 skos:exactMatch hgnc.symbol:23140 semapv:UnspecifiedMatching +OMIM:609336 ANGPTL6 skos:exactMatch hgnc.symbol:ANGPTL6 semapv:UnspecifiedMatching +OMIM:609336 ANGPTL6 skos:exactMatch ncbigene:83854 semapv:UnspecifiedMatching +OMIM:609337 MIR155 skos:exactMatch hgnc.symbol:31542 semapv:UnspecifiedMatching +OMIM:609337 MIR155 skos:exactMatch hgnc.symbol:MIR155 semapv:UnspecifiedMatching +OMIM:609337 MIR155 skos:exactMatch ncbigene:406947 semapv:UnspecifiedMatching +OMIM:609338 carotid intimal medial thickness 1 skos:exactMatch MONDO:0044275 semapv:UnspecifiedMatching +OMIM:609340 spastic paraplegia 28, autosomal recessive skos:exactMatch MONDO:0012256 semapv:UnspecifiedMatching +OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:14134 semapv:UnspecifiedMatching +OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:TPSG1 semapv:UnspecifiedMatching +OMIM:609341 TPSG1 skos:exactMatch ncbigene:25823 semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch UMLS:C1415066 semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch UMLS:C4017193 semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:4268 semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:CBLIF semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch ncbigene:2694 semapv:UnspecifiedMatching +OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:14368 semapv:UnspecifiedMatching +OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:PRSS22 semapv:UnspecifiedMatching +OMIM:609343 PRSS22 skos:exactMatch ncbigene:64063 semapv:UnspecifiedMatching +OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:17585 semapv:UnspecifiedMatching +OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:KCP semapv:UnspecifiedMatching +OMIM:609344 kielin/chordin-like protein skos:exactMatch ncbigene:375616 semapv:UnspecifiedMatching +OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula skos:exactMatch MONDO:0012257 semapv:UnspecifiedMatching +OMIM:609346 REEP6 skos:exactMatch hgnc.symbol:30078 semapv:UnspecifiedMatching +OMIM:609346 REEP6 skos:exactMatch hgnc.symbol:REEP6 semapv:UnspecifiedMatching +OMIM:609346 REEP6 skos:exactMatch ncbigene:92840 semapv:UnspecifiedMatching +OMIM:609347 REEP2 skos:exactMatch hgnc.symbol:17975 semapv:UnspecifiedMatching +OMIM:609347 REEP2 skos:exactMatch hgnc.symbol:REEP2 semapv:UnspecifiedMatching +OMIM:609347 REEP2 skos:exactMatch ncbigene:51308 semapv:UnspecifiedMatching +OMIM:609348 REEP3 skos:exactMatch hgnc.symbol:23711 semapv:UnspecifiedMatching +OMIM:609348 REEP3 skos:exactMatch hgnc.symbol:REEP3 semapv:UnspecifiedMatching +OMIM:609348 REEP3 skos:exactMatch ncbigene:221035 semapv:UnspecifiedMatching +OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:26176 semapv:UnspecifiedMatching +OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:REEP4 semapv:UnspecifiedMatching +OMIM:609349 REEP4 skos:exactMatch ncbigene:80346 semapv:UnspecifiedMatching +OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:23992 semapv:UnspecifiedMatching +OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:RTP4 semapv:UnspecifiedMatching +OMIM:609350 RTP4 skos:exactMatch ncbigene:64108 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch UMLS:C1428339 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:24046 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:ARL11 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch ncbigene:115761 semapv:UnspecifiedMatching +OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema skos:exactMatch MONDO:0012258 semapv:UnspecifiedMatching +OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:27230 semapv:UnspecifiedMatching +OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:ESCO2 semapv:UnspecifiedMatching +OMIM:609353 ESCO2 skos:exactMatch ncbigene:157570 semapv:UnspecifiedMatching +OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:31631 semapv:UnspecifiedMatching +OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:MIR32 semapv:UnspecifiedMatching +OMIM:609355 MIR32 skos:exactMatch ncbigene:407036 semapv:UnspecifiedMatching +OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:17634 semapv:UnspecifiedMatching +OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:NUFIP2 semapv:UnspecifiedMatching +OMIM:609356 NUFIP2 skos:exactMatch ncbigene:57532 semapv:UnspecifiedMatching +OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:18043 semapv:UnspecifiedMatching +OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:MCM10 semapv:UnspecifiedMatching +OMIM:609357 MCM10 skos:exactMatch ncbigene:55388 semapv:UnspecifiedMatching +OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:3491 semapv:UnspecifiedMatching +OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:ETV2 semapv:UnspecifiedMatching +OMIM:609358 ETV2 skos:exactMatch ncbigene:2116 semapv:UnspecifiedMatching +OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:24979 semapv:UnspecifiedMatching +OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:HS1BP3 semapv:UnspecifiedMatching +OMIM:609359 HS1BP3 skos:exactMatch ncbigene:64342 semapv:UnspecifiedMatching +OMIM:609360 RNLS skos:exactMatch hgnc.symbol:25641 semapv:UnspecifiedMatching +OMIM:609360 RNLS skos:exactMatch hgnc.symbol:RNLS semapv:UnspecifiedMatching +OMIM:609360 RNLS skos:exactMatch ncbigene:55328 semapv:UnspecifiedMatching +OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:17261 semapv:UnspecifiedMatching +OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:MOB4 semapv:UnspecifiedMatching +OMIM:609361 MOB4 skos:exactMatch ncbigene:25843 semapv:UnspecifiedMatching +OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:17163 semapv:UnspecifiedMatching +OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:PLA2G15 semapv:UnspecifiedMatching +OMIM:609362 LYPLA3 skos:exactMatch ncbigene:23659 semapv:UnspecifiedMatching +OMIM:609363 colloid cysts of third ventricle skos:exactMatch MONDO:0012259 semapv:UnspecifiedMatching +OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:22948 semapv:UnspecifiedMatching +OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:NLRP2 semapv:UnspecifiedMatching +OMIM:609364 NLRP2 skos:exactMatch ncbigene:55655 semapv:UnspecifiedMatching +OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:29925 semapv:UnspecifiedMatching +OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:GNL2 semapv:UnspecifiedMatching +OMIM:609365 GNL2 skos:exactMatch ncbigene:29889 semapv:UnspecifiedMatching +OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:16850 semapv:UnspecifiedMatching +OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:CTR9 semapv:UnspecifiedMatching +OMIM:609366 CTR9 skos:exactMatch ncbigene:9646 semapv:UnspecifiedMatching +OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:23419 semapv:UnspecifiedMatching +OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:KIFBP semapv:UnspecifiedMatching +OMIM:609367 KIFBP skos:exactMatch ncbigene:26128 semapv:UnspecifiedMatching +OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:24047 semapv:UnspecifiedMatching +OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:ATL2 semapv:UnspecifiedMatching +OMIM:609368 ATL2 skos:exactMatch ncbigene:64225 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch UMLS:C1836273 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:24526 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:ATL3 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch ncbigene:25923 semapv:UnspecifiedMatching +OMIM:609370 STK35 skos:exactMatch hgnc.symbol:16254 semapv:UnspecifiedMatching +OMIM:609370 STK35 skos:exactMatch hgnc.symbol:STK35 semapv:UnspecifiedMatching +OMIM:609370 STK35 skos:exactMatch ncbigene:140901 semapv:UnspecifiedMatching +OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:1335 semapv:UnspecifiedMatching +OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:FAM13B semapv:UnspecifiedMatching +OMIM:609371 C5ORF5 skos:exactMatch ncbigene:51306 semapv:UnspecifiedMatching +OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:1336 semapv:UnspecifiedMatching +OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:FAM53C semapv:UnspecifiedMatching +OMIM:609372 FAM53C skos:exactMatch ncbigene:51307 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch UMLS:C1413012 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:1337 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:KDM3B semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch ncbigene:51780 semapv:UnspecifiedMatching +OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:14626 semapv:UnspecifiedMatching +OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:CDCA5 semapv:UnspecifiedMatching +OMIM:609374 CDCA5 skos:exactMatch ncbigene:113130 semapv:UnspecifiedMatching +OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:30830 semapv:UnspecifiedMatching +OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:LIN9 semapv:UnspecifiedMatching +OMIM:609375 LIN9 skos:exactMatch ncbigene:286826 semapv:UnspecifiedMatching +OMIM:609376 cataract 35 skos:exactMatch MONDO:0012260 semapv:UnspecifiedMatching +OMIM:609377 ACD skos:exactMatch hgnc.symbol:25070 semapv:UnspecifiedMatching +OMIM:609377 ACD skos:exactMatch hgnc.symbol:ACD semapv:UnspecifiedMatching +OMIM:609377 ACD skos:exactMatch ncbigene:65057 semapv:UnspecifiedMatching +OMIM:609378 autism, susceptibility to, 6 skos:exactMatch MONDO:0012261 semapv:UnspecifiedMatching +OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:17337 semapv:UnspecifiedMatching +OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:LCN6 semapv:UnspecifiedMatching +OMIM:609379 LCN6 skos:exactMatch ncbigene:158062 semapv:UnspecifiedMatching +OMIM:609380 LMLN skos:exactMatch hgnc.symbol:15991 semapv:UnspecifiedMatching +OMIM:609380 LMLN skos:exactMatch hgnc.symbol:LMLN semapv:UnspecifiedMatching +OMIM:609380 LMLN skos:exactMatch ncbigene:89782 semapv:UnspecifiedMatching +OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:30757 semapv:UnspecifiedMatching +OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:STXBP5L semapv:UnspecifiedMatching +OMIM:609381 STXBP5L skos:exactMatch ncbigene:9515 semapv:UnspecifiedMatching +OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:18550 semapv:UnspecifiedMatching +OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:IER3IP1 semapv:UnspecifiedMatching +OMIM:609382 IER3IP1 skos:exactMatch ncbigene:51124 semapv:UnspecifiedMatching +OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:28018 semapv:UnspecifiedMatching +OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:NIPAL4 semapv:UnspecifiedMatching +OMIM:609383 NIPAL4 skos:exactMatch ncbigene:348938 semapv:UnspecifiedMatching +OMIM:609384 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch MONDO:0012262 semapv:UnspecifiedMatching +OMIM:609385 DND1 skos:exactMatch hgnc.symbol:23799 semapv:UnspecifiedMatching +OMIM:609385 DND1 skos:exactMatch hgnc.symbol:DND1 semapv:UnspecifiedMatching +OMIM:609385 DND1 skos:exactMatch ncbigene:373863 semapv:UnspecifiedMatching +OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:20465 semapv:UnspecifiedMatching +OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:SMC5 semapv:UnspecifiedMatching +OMIM:609386 SMC5 skos:exactMatch ncbigene:23137 semapv:UnspecifiedMatching +OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:20466 semapv:UnspecifiedMatching +OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:SMC6 semapv:UnspecifiedMatching +OMIM:609387 SMC6 skos:exactMatch ncbigene:79677 semapv:UnspecifiedMatching +OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:24586 semapv:UnspecifiedMatching +OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:METTL9 semapv:UnspecifiedMatching +OMIM:609388 METTL9 skos:exactMatch ncbigene:51108 semapv:UnspecifiedMatching +OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:17054 semapv:UnspecifiedMatching +OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:INPP5F semapv:UnspecifiedMatching +OMIM:609389 INPP5F skos:exactMatch ncbigene:22876 semapv:UnspecifiedMatching +OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:16873 semapv:UnspecifiedMatching +OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:FIG4 semapv:UnspecifiedMatching +OMIM:609390 FIG4 skos:exactMatch ncbigene:9896 semapv:UnspecifiedMatching +OMIM:609391 SP5 skos:exactMatch hgnc.symbol:14529 semapv:UnspecifiedMatching +OMIM:609391 SP5 skos:exactMatch hgnc.symbol:SP5 semapv:UnspecifiedMatching +OMIM:609391 SP5 skos:exactMatch ncbigene:389058 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch UMLS:C1424346 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:16516 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:KLF3 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch ncbigene:51274 semapv:UnspecifiedMatching +OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:23025 semapv:UnspecifiedMatching +OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:KLF14 semapv:UnspecifiedMatching +OMIM:609393 KLF14 skos:exactMatch ncbigene:136259 semapv:UnspecifiedMatching +OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:26913 semapv:UnspecifiedMatching +OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:SPC24 semapv:UnspecifiedMatching +OMIM:609394 SPC24 skos:exactMatch ncbigene:147841 semapv:UnspecifiedMatching +OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:24031 semapv:UnspecifiedMatching +OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:SPC25 semapv:UnspecifiedMatching +OMIM:609395 SPC25 skos:exactMatch ncbigene:57405 semapv:UnspecifiedMatching +OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:20610 semapv:UnspecifiedMatching +OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:PHLPP1 semapv:UnspecifiedMatching +OMIM:609396 PHLPP1 skos:exactMatch ncbigene:23239 semapv:UnspecifiedMatching +OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:23508 semapv:UnspecifiedMatching +OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:STOX1 semapv:UnspecifiedMatching +OMIM:609397 STOX1 skos:exactMatch ncbigene:219736 semapv:UnspecifiedMatching +OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:13527 semapv:UnspecifiedMatching +OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:ATP6V1D semapv:UnspecifiedMatching +OMIM:609398 ATP6V1D skos:exactMatch ncbigene:51382 semapv:UnspecifiedMatching +OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:15570 semapv:UnspecifiedMatching +OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:SPESP1 semapv:UnspecifiedMatching +OMIM:609399 SPESP1 skos:exactMatch ncbigene:246777 semapv:UnspecifiedMatching +OMIM:609400 autoimmune disease, susceptibility to, 4 skos:exactMatch MONDO:0012263 semapv:UnspecifiedMatching +OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:19134 semapv:UnspecifiedMatching +OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:HS6ST3 semapv:UnspecifiedMatching +OMIM:609401 HS6ST3 skos:exactMatch ncbigene:266722 semapv:UnspecifiedMatching +OMIM:609402 preeclampsia/eclampsia 2 skos:exactMatch MONDO:0012264 semapv:UnspecifiedMatching +OMIM:609403 preeclampsia/eclampsia 3 skos:exactMatch MONDO:0012265 semapv:UnspecifiedMatching +OMIM:609404 preeclampsia/eclampsia 4 skos:exactMatch MONDO:0012266 semapv:UnspecifiedMatching +OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:677 semapv:UnspecifiedMatching +OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:ARHGAP8 semapv:UnspecifiedMatching +OMIM:609405 ARHGAP8 skos:exactMatch ncbigene:23779 semapv:UnspecifiedMatching +OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:31682 semapv:UnspecifiedMatching +OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:PRR5 semapv:UnspecifiedMatching +OMIM:609406 PRR5 skos:exactMatch ncbigene:55615 semapv:UnspecifiedMatching +OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:19419 semapv:UnspecifiedMatching +OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:HS3ST5 semapv:UnspecifiedMatching +OMIM:609407 HS3ST5 skos:exactMatch ncbigene:222537 semapv:UnspecifiedMatching +OMIM:609408 holoprosencephaly 8 skos:exactMatch MONDO:0012267 semapv:UnspecifiedMatching +OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:5030 semapv:UnspecifiedMatching +OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:HNRNPA0 semapv:UnspecifiedMatching +OMIM:609409 HNRNPA0 skos:exactMatch ncbigene:10949 semapv:UnspecifiedMatching +OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:11504 semapv:UnspecifiedMatching +OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:SYNJ2 semapv:UnspecifiedMatching +OMIM:609410 SYNJ2 skos:exactMatch ncbigene:8871 semapv:UnspecifiedMatching +OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:18955 semapv:UnspecifiedMatching +OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:SYNJ2BP semapv:UnspecifiedMatching +OMIM:609411 SYNJ2BP skos:exactMatch ncbigene:55333 semapv:UnspecifiedMatching +OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:3439 semapv:UnspecifiedMatching +OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:ERCC8 semapv:UnspecifiedMatching +OMIM:609412 ERCC8 skos:exactMatch ncbigene:1161 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C0265201 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C1366757 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C1426221 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C2674950 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C3551173 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C4017197 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch UMLS:C4310783 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:3438 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:ERCC6 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch ncbigene:2074 semapv:UnspecifiedMatching +OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:23785 semapv:UnspecifiedMatching +OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:PIKFYVE semapv:UnspecifiedMatching +OMIM:609414 PIKFYVE skos:exactMatch ncbigene:200576 semapv:UnspecifiedMatching +OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:23564 semapv:UnspecifiedMatching +OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:MIR17HG semapv:UnspecifiedMatching +OMIM:609415 MIR17HG skos:exactMatch ncbigene:407975 semapv:UnspecifiedMatching +OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:31547 semapv:UnspecifiedMatching +OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:MIR17 semapv:UnspecifiedMatching +OMIM:609416 MIR17 skos:exactMatch ncbigene:406952 semapv:UnspecifiedMatching +OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:31548 semapv:UnspecifiedMatching +OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:MIR18A semapv:UnspecifiedMatching +OMIM:609417 MIR18A skos:exactMatch ncbigene:406953 semapv:UnspecifiedMatching +OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:31574 semapv:UnspecifiedMatching +OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:MIR19A semapv:UnspecifiedMatching +OMIM:609418 MIR19A skos:exactMatch ncbigene:406979 semapv:UnspecifiedMatching +OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:31575 semapv:UnspecifiedMatching +OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:MIR19B1 semapv:UnspecifiedMatching +OMIM:609419 MIR19B1 skos:exactMatch ncbigene:406980 semapv:UnspecifiedMatching +OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:31577 semapv:UnspecifiedMatching +OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:MIR20A semapv:UnspecifiedMatching +OMIM:609420 MIR20A skos:exactMatch ncbigene:406982 semapv:UnspecifiedMatching +OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:31643 semapv:UnspecifiedMatching +OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:MIR92A1 semapv:UnspecifiedMatching +OMIM:609422 MIR92A1 skos:exactMatch ncbigene:407048 semapv:UnspecifiedMatching +OMIM:609423 human immunodeficiency virus iia 1, susceptibility to skos:exactMatch MONDO:0004951 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch UMLS:C1826784 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:29434 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:RC3H1 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch ncbigene:149041 semapv:UnspecifiedMatching +OMIM:609425 chromosome 3q29 deletion syndrome skos:exactMatch MONDO:0012269 semapv:UnspecifiedMatching +OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:17565 semapv:UnspecifiedMatching +OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:MINK1 semapv:UnspecifiedMatching +OMIM:609426 MINK1 skos:exactMatch ncbigene:50488 semapv:UnspecifiedMatching +OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:21253 semapv:UnspecifiedMatching +OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:LHFPL5 semapv:UnspecifiedMatching +OMIM:609427 LHFPL5 skos:exactMatch ncbigene:222662 semapv:UnspecifiedMatching +OMIM:609428 tukel syndrome skos:exactMatch MONDO:0012270 semapv:UnspecifiedMatching +OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:21399 semapv:UnspecifiedMatching +OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:FOXN4 semapv:UnspecifiedMatching +OMIM:609429 FOXN4 skos:exactMatch ncbigene:121643 semapv:UnspecifiedMatching +OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:19311 semapv:UnspecifiedMatching +OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:NPAS3 semapv:UnspecifiedMatching +OMIM:609430 NPAS3 skos:exactMatch ncbigene:64067 semapv:UnspecifiedMatching +OMIM:609431 MBIP skos:exactMatch hgnc.symbol:20427 semapv:UnspecifiedMatching +OMIM:609431 MBIP skos:exactMatch hgnc.symbol:MBIP semapv:UnspecifiedMatching +OMIM:609431 MBIP skos:exactMatch ncbigene:51562 semapv:UnspecifiedMatching +OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction skos:exactMatch MONDO:0012271 semapv:UnspecifiedMatching +OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:30298 semapv:UnspecifiedMatching +OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:UIMC1 semapv:UnspecifiedMatching +OMIM:609433 UIMC1 skos:exactMatch ncbigene:51720 semapv:UnspecifiedMatching +OMIM:609434 LUC7L3 skos:exactMatch UMLS:C1836205 semapv:UnspecifiedMatching +OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:24309 semapv:UnspecifiedMatching +OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:LUC7L3 semapv:UnspecifiedMatching +OMIM:609434 LUC7L3 skos:exactMatch ncbigene:51747 semapv:UnspecifiedMatching +OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:17194 semapv:UnspecifiedMatching +OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:NDUFA13 semapv:UnspecifiedMatching +OMIM:609435 NDUFA13 skos:exactMatch ncbigene:51079 semapv:UnspecifiedMatching +OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:3678 semapv:UnspecifiedMatching +OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:FGF21 semapv:UnspecifiedMatching +OMIM:609436 FGF21 skos:exactMatch ncbigene:26291 semapv:UnspecifiedMatching +OMIM:609437 STK40 skos:exactMatch hgnc.symbol:21373 semapv:UnspecifiedMatching +OMIM:609437 STK40 skos:exactMatch hgnc.symbol:STK40 semapv:UnspecifiedMatching +OMIM:609437 STK40 skos:exactMatch ncbigene:83931 semapv:UnspecifiedMatching +OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch MONDO:0012272 semapv:UnspecifiedMatching +OMIM:609439 deafness, autosomal recessive 48 skos:exactMatch MONDO:0012273 semapv:UnspecifiedMatching +OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:24329 semapv:UnspecifiedMatching +OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:UTP11 semapv:UnspecifiedMatching +OMIM:609440 UTP11L skos:exactMatch ncbigene:51118 semapv:UnspecifiedMatching +OMIM:609441 acromesomelic dysplasia 3 skos:exactMatch MONDO:0012274 semapv:UnspecifiedMatching +OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch MONDO:0012275 semapv:UnspecifiedMatching +OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch Orphanet:1906 semapv:UnspecifiedMatching +OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C0236026 semapv:UnspecifiedMatching +OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C1876218 semapv:UnspecifiedMatching +OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:24609 semapv:UnspecifiedMatching +OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:CELA2A semapv:UnspecifiedMatching +OMIM:609443 CELA2A skos:exactMatch ncbigene:63036 semapv:UnspecifiedMatching +OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:29995 semapv:UnspecifiedMatching +OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:CELA2B semapv:UnspecifiedMatching +OMIM:609444 CELA2B skos:exactMatch ncbigene:51032 semapv:UnspecifiedMatching +OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:24883 semapv:UnspecifiedMatching +OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:RXFP3 semapv:UnspecifiedMatching +OMIM:609445 RXFP3 skos:exactMatch ncbigene:51289 semapv:UnspecifiedMatching +OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy skos:exactMatch MONDO:0012276 semapv:UnspecifiedMatching +OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:30125 semapv:UnspecifiedMatching +OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:MZB1 semapv:UnspecifiedMatching +OMIM:609447 MZB1 skos:exactMatch ncbigene:51237 semapv:UnspecifiedMatching +OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:24626 semapv:UnspecifiedMatching +OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:TXNDC12 semapv:UnspecifiedMatching +OMIM:609448 TXNDC12 skos:exactMatch ncbigene:51060 semapv:UnspecifiedMatching +OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:17619 semapv:UnspecifiedMatching +OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:NDE1 semapv:UnspecifiedMatching +OMIM:609449 NDE1 skos:exactMatch ncbigene:54820 semapv:UnspecifiedMatching +OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:14008 semapv:UnspecifiedMatching +OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:MXD3 semapv:UnspecifiedMatching +OMIM:609450 MXD3 skos:exactMatch ncbigene:83463 semapv:UnspecifiedMatching +OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:23329 semapv:UnspecifiedMatching +OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:ZFP90 semapv:UnspecifiedMatching +OMIM:609451 ZFP90 skos:exactMatch ncbigene:146198 semapv:UnspecifiedMatching +OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch MONDO:0012277 semapv:UnspecifiedMatching +OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch Orphanet:98912 semapv:UnspecifiedMatching +OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch UMLS:C4721886 semapv:UnspecifiedMatching +OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:24876 semapv:UnspecifiedMatching +OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:GOLGA7 semapv:UnspecifiedMatching +OMIM:609453 GOLGA7 skos:exactMatch ncbigene:51125 semapv:UnspecifiedMatching +OMIM:609454 supranuclear palsy, progressive, 2 skos:exactMatch MONDO:0012278 semapv:UnspecifiedMatching +OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:30134 semapv:UnspecifiedMatching +OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:PELP1 semapv:UnspecifiedMatching +OMIM:609455 PELP1 skos:exactMatch ncbigene:27043 semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch UMLS:C0220992 semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch UMLS:C1415465 semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch hgnc.symbol:4806 semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch hgnc.symbol:HAL semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch ncbigene:3034 semapv:UnspecifiedMatching +OMIM:609458 MAN2B1 skos:exactMatch hgnc.symbol:6826 semapv:UnspecifiedMatching +OMIM:609458 MAN2B1 skos:exactMatch hgnc.symbol:MAN2B1 semapv:UnspecifiedMatching +OMIM:609458 MAN2B1 skos:exactMatch ncbigene:4125 semapv:UnspecifiedMatching +OMIM:609459 DGCR6L skos:exactMatch hgnc.symbol:18551 semapv:UnspecifiedMatching +OMIM:609459 DGCR6L skos:exactMatch hgnc.symbol:DGCR6L semapv:UnspecifiedMatching +OMIM:609459 DGCR6L skos:exactMatch ncbigene:85359 semapv:UnspecifiedMatching +OMIM:609460 goldberg-shprintzen syndrome skos:exactMatch MONDO:0012280 semapv:UnspecifiedMatching +OMIM:609461 TRIB1 skos:exactMatch hgnc.symbol:16891 semapv:UnspecifiedMatching +OMIM:609461 TRIB1 skos:exactMatch hgnc.symbol:TRIB1 semapv:UnspecifiedMatching +OMIM:609461 TRIB1 skos:exactMatch ncbigene:10221 semapv:UnspecifiedMatching +OMIM:609462 TRIB2 skos:exactMatch hgnc.symbol:30809 semapv:UnspecifiedMatching +OMIM:609462 TRIB2 skos:exactMatch hgnc.symbol:TRIB2 semapv:UnspecifiedMatching +OMIM:609462 TRIB2 skos:exactMatch ncbigene:28951 semapv:UnspecifiedMatching +OMIM:609463 MRTFB skos:exactMatch UMLS:C1537922 semapv:UnspecifiedMatching +OMIM:609463 MRTFB skos:exactMatch hgnc.symbol:29819 semapv:UnspecifiedMatching +OMIM:609463 MRTFB skos:exactMatch hgnc.symbol:MRTFB semapv:UnspecifiedMatching +OMIM:609463 MRTFB skos:exactMatch ncbigene:57496 semapv:UnspecifiedMatching +OMIM:609465 al-gazali syndrome skos:exactMatch MONDO:0012282 semapv:UnspecifiedMatching +OMIM:609465 al-gazali syndrome skos:exactMatch Orphanet:2725 semapv:UnspecifiedMatching +OMIM:609465 al-gazali syndrome skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching +OMIM:609466 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch MONDO:0012283 semapv:UnspecifiedMatching +OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:10629 semapv:UnspecifiedMatching +OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:CCL3P1 semapv:UnspecifiedMatching +OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:30554 semapv:UnspecifiedMatching +OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:CCL3L3 semapv:UnspecifiedMatching +OMIM:609468 CCL3L3 skos:exactMatch ncbigene:414062 semapv:UnspecifiedMatching +OMIM:609469 nephropathy, progressive, with deafness skos:exactMatch MONDO:0012284 semapv:UnspecifiedMatching +OMIM:609470 left ventricular noncompaction 2 skos:exactMatch MONDO:0012285 semapv:UnspecifiedMatching +OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:18986 semapv:UnspecifiedMatching +OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:GBA2 semapv:UnspecifiedMatching +OMIM:609471 GBA2 skos:exactMatch ncbigene:57704 semapv:UnspecifiedMatching +OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:2152 semapv:UnspecifiedMatching +OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:CNGA4 semapv:UnspecifiedMatching +OMIM:609472 CNGA4 skos:exactMatch ncbigene:1262 semapv:UnspecifiedMatching +OMIM:609473 CGN skos:exactMatch UMLS:C1424964 semapv:UnspecifiedMatching +OMIM:609473 CGN skos:exactMatch hgnc.symbol:17429 semapv:UnspecifiedMatching +OMIM:609473 CGN skos:exactMatch hgnc.symbol:CGN semapv:UnspecifiedMatching +OMIM:609473 CGN skos:exactMatch ncbigene:57530 semapv:UnspecifiedMatching +OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:7954 semapv:UnspecifiedMatching +OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:NPTXR semapv:UnspecifiedMatching +OMIM:609474 NPTXR skos:exactMatch ncbigene:23467 semapv:UnspecifiedMatching +OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:29857 semapv:UnspecifiedMatching +OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:AKAP8L semapv:UnspecifiedMatching +OMIM:609475 AKAP8L skos:exactMatch ncbigene:26993 semapv:UnspecifiedMatching +OMIM:609476 NLK skos:exactMatch hgnc.symbol:29858 semapv:UnspecifiedMatching +OMIM:609476 NLK skos:exactMatch hgnc.symbol:NLK semapv:UnspecifiedMatching +OMIM:609476 NLK skos:exactMatch ncbigene:51701 semapv:UnspecifiedMatching +OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:24810 semapv:UnspecifiedMatching +OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:SMCO4 semapv:UnspecifiedMatching +OMIM:609477 SMCO4 skos:exactMatch ncbigene:56935 semapv:UnspecifiedMatching +OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:14269 semapv:UnspecifiedMatching +OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:ST8SIA3 semapv:UnspecifiedMatching +OMIM:609478 ST8SIA3 skos:exactMatch ncbigene:51046 semapv:UnspecifiedMatching +OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:17797 semapv:UnspecifiedMatching +OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:MAP3K20 semapv:UnspecifiedMatching +OMIM:609479 MAP3K20 skos:exactMatch ncbigene:51776 semapv:UnspecifiedMatching +OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:18524 semapv:UnspecifiedMatching +OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:ISL2 semapv:UnspecifiedMatching +OMIM:609481 ISL2 skos:exactMatch ncbigene:64843 semapv:UnspecifiedMatching +OMIM:609482 AGR3 skos:exactMatch UMLS:C1836117 semapv:UnspecifiedMatching +OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:24167 semapv:UnspecifiedMatching +OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:AGR3 semapv:UnspecifiedMatching +OMIM:609482 AGR3 skos:exactMatch ncbigene:155465 semapv:UnspecifiedMatching +OMIM:609483 FAM84B skos:exactMatch hgnc.symbol:24166 semapv:UnspecifiedMatching +OMIM:609483 FAM84B skos:exactMatch hgnc.symbol:LRATD2 semapv:UnspecifiedMatching +OMIM:609483 FAM84B skos:exactMatch ncbigene:157638 semapv:UnspecifiedMatching +OMIM:609484 LYPD3 skos:exactMatch hgnc.symbol:24880 semapv:UnspecifiedMatching +OMIM:609484 LYPD3 skos:exactMatch hgnc.symbol:LYPD3 semapv:UnspecifiedMatching +OMIM:609484 LYPD3 skos:exactMatch ncbigene:27076 semapv:UnspecifiedMatching +OMIM:609485 MOAP1 skos:exactMatch hgnc.symbol:16658 semapv:UnspecifiedMatching +OMIM:609485 MOAP1 skos:exactMatch hgnc.symbol:MOAP1 semapv:UnspecifiedMatching +OMIM:609485 MOAP1 skos:exactMatch ncbigene:64112 semapv:UnspecifiedMatching +OMIM:609486 EAPP skos:exactMatch hgnc.symbol:19312 semapv:UnspecifiedMatching +OMIM:609486 EAPP skos:exactMatch hgnc.symbol:EAPP semapv:UnspecifiedMatching +OMIM:609486 EAPP skos:exactMatch ncbigene:55837 semapv:UnspecifiedMatching +OMIM:609487 MAP3K2 skos:exactMatch hgnc.symbol:6854 semapv:UnspecifiedMatching +OMIM:609487 MAP3K2 skos:exactMatch hgnc.symbol:MAP3K2 semapv:UnspecifiedMatching +OMIM:609487 MAP3K2 skos:exactMatch ncbigene:10746 semapv:UnspecifiedMatching +OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc.symbol:28504 semapv:UnspecifiedMatching +OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc.symbol:CCDC110 semapv:UnspecifiedMatching +OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch ncbigene:256309 semapv:UnspecifiedMatching +OMIM:609489 MANBA skos:exactMatch hgnc.symbol:6831 semapv:UnspecifiedMatching +OMIM:609489 MANBA skos:exactMatch hgnc.symbol:MANBA semapv:UnspecifiedMatching +OMIM:609489 MANBA skos:exactMatch ncbigene:4126 semapv:UnspecifiedMatching +OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch hgnc.symbol:CARD17P semapv:UnspecifiedMatching +OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch ncbigene:440068 semapv:UnspecifiedMatching +OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:17858 semapv:UnspecifiedMatching +OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:GPSM1 semapv:UnspecifiedMatching +OMIM:609491 GPSM1 skos:exactMatch ncbigene:26086 semapv:UnspecifiedMatching +OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:9883 semapv:UnspecifiedMatching +OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:RASSF2 semapv:UnspecifiedMatching +OMIM:609492 RASSF2 skos:exactMatch ncbigene:9770 semapv:UnspecifiedMatching +OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:15930 semapv:UnspecifiedMatching +OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:SLC2A4RG semapv:UnspecifiedMatching +OMIM:609493 SLC2A4RG skos:exactMatch ncbigene:56731 semapv:UnspecifiedMatching +OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:18737 semapv:UnspecifiedMatching +OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:ZNF395 semapv:UnspecifiedMatching +OMIM:609494 ZNF395 skos:exactMatch ncbigene:55893 semapv:UnspecifiedMatching +OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:19427 semapv:UnspecifiedMatching +OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:GGNBP1 semapv:UnspecifiedMatching +OMIM:609495 GGNBP1 skos:exactMatch ncbigene:449520 semapv:UnspecifiedMatching +OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:29499 semapv:UnspecifiedMatching +OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:ERAP2 semapv:UnspecifiedMatching +OMIM:609497 ERAP2 skos:exactMatch ncbigene:64167 semapv:UnspecifiedMatching +OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:31969 semapv:UnspecifiedMatching +OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:FBXO47 semapv:UnspecifiedMatching +OMIM:609498 f-box only protein 47 skos:exactMatch ncbigene:494188 semapv:UnspecifiedMatching +OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:14576 semapv:UnspecifiedMatching +OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:MCF2L semapv:UnspecifiedMatching +OMIM:609499 MCF2L skos:exactMatch ncbigene:23263 semapv:UnspecifiedMatching +OMIM:609500 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch MONDO:0012286 semapv:UnspecifiedMatching +OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:11713 semapv:UnspecifiedMatching +OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:TDRKH semapv:UnspecifiedMatching +OMIM:609501 TDRKH skos:exactMatch ncbigene:11022 semapv:UnspecifiedMatching +OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:14550 semapv:UnspecifiedMatching +OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:CDHR1 semapv:UnspecifiedMatching +OMIM:609502 CDHR1 skos:exactMatch ncbigene:92211 semapv:UnspecifiedMatching +OMIM:609503 SPMAP2 skos:exactMatch UMLS:C1422153 semapv:UnspecifiedMatching +OMIM:609503 SPMAP2 skos:exactMatch hgnc.symbol:SPMAP2 semapv:UnspecifiedMatching +OMIM:609503 SPMAP2 skos:exactMatch ncbigene:51298 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch UMLS:C1417080 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:6960 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:MCRS1 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch ncbigene:10445 semapv:UnspecifiedMatching +OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:17241 semapv:UnspecifiedMatching +OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:TRIM16 semapv:UnspecifiedMatching +OMIM:609505 TRIM16 skos:exactMatch ncbigene:10626 semapv:UnspecifiedMatching +OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:2606 semapv:UnspecifiedMatching +OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:CYP27B1 semapv:UnspecifiedMatching +OMIM:609506 CYP27B1 skos:exactMatch ncbigene:1594 semapv:UnspecifiedMatching +OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:21653 semapv:UnspecifiedMatching +OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:TOPORS semapv:UnspecifiedMatching +OMIM:609507 TOPORS skos:exactMatch ncbigene:10210 semapv:UnspecifiedMatching +OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular skos:exactMatch MONDO:0012287 semapv:UnspecifiedMatching +OMIM:609509 IL31 skos:exactMatch hgnc.symbol:19372 semapv:UnspecifiedMatching +OMIM:609509 IL31 skos:exactMatch hgnc.symbol:IL31 semapv:UnspecifiedMatching +OMIM:609509 IL31 skos:exactMatch ncbigene:386653 semapv:UnspecifiedMatching +OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:18969 semapv:UnspecifiedMatching +OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:IL31RA semapv:UnspecifiedMatching +OMIM:609510 IL31RA skos:exactMatch ncbigene:133396 semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch UMLS:C1427116 semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch hgnc.symbol:20759 semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch hgnc.symbol:RBSN semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch ncbigene:64145 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch UMLS:C1538456 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch UMLS:C1836076 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:24537 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:CHMP2B semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch ncbigene:25978 semapv:UnspecifiedMatching +OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:33940 semapv:UnspecifiedMatching +OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:NPS semapv:UnspecifiedMatching +OMIM:609513 neuropeptide s skos:exactMatch ncbigene:594857 semapv:UnspecifiedMatching +OMIM:609514 TAF8 skos:exactMatch UMLS:C1424885 semapv:UnspecifiedMatching +OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:17300 semapv:UnspecifiedMatching +OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:TAF8 semapv:UnspecifiedMatching +OMIM:609514 TAF8 skos:exactMatch ncbigene:129685 semapv:UnspecifiedMatching +OMIM:609515 iridogoniodysgenesis and skeletal anomalies skos:exactMatch MONDO:0012288 semapv:UnspecifiedMatching +OMIM:609516 ZNF382 skos:exactMatch hgnc.symbol:17409 semapv:UnspecifiedMatching +OMIM:609516 ZNF382 skos:exactMatch hgnc.symbol:ZNF382 semapv:UnspecifiedMatching +OMIM:609516 ZNF382 skos:exactMatch ncbigene:84911 semapv:UnspecifiedMatching +OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching +OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching +OMIM:609517 TIAF1 skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching +OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:23190 semapv:UnspecifiedMatching +OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:THAP7 semapv:UnspecifiedMatching +OMIM:609518 THAP7 skos:exactMatch ncbigene:80764 semapv:UnspecifiedMatching +OMIM:609519 TFPT skos:exactMatch hgnc.symbol:13630 semapv:UnspecifiedMatching +OMIM:609519 TFPT skos:exactMatch hgnc.symbol:TFPT semapv:UnspecifiedMatching +OMIM:609519 TFPT skos:exactMatch ncbigene:29844 semapv:UnspecifiedMatching +OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:20856 semapv:UnspecifiedMatching +OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:THAP1 semapv:UnspecifiedMatching +OMIM:609520 THAP1 skos:exactMatch ncbigene:55145 semapv:UnspecifiedMatching +OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:11012 semapv:UnspecifiedMatching +OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:SLC30A1 semapv:UnspecifiedMatching +OMIM:609521 SLC30A1 skos:exactMatch ncbigene:7779 semapv:UnspecifiedMatching +OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:30771 semapv:UnspecifiedMatching +OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:ELOA2 semapv:UnspecifiedMatching +OMIM:609522 ELOA2 skos:exactMatch ncbigene:51224 semapv:UnspecifiedMatching +OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:403 semapv:UnspecifiedMatching +OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:ALDH3A2 semapv:UnspecifiedMatching +OMIM:609523 ALDH3A2 skos:exactMatch ncbigene:224 semapv:UnspecifiedMatching +OMIM:609524 myopathy, myofibrillar, 5 skos:exactMatch MONDO:0012289 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch UMLS:C1825978 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:25856 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:METTL8 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch ncbigene:79828 semapv:UnspecifiedMatching +OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:24501 semapv:UnspecifiedMatching +OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:PLEKHG4 semapv:UnspecifiedMatching +OMIM:609526 PLEKHG4 skos:exactMatch ncbigene:25894 semapv:UnspecifiedMatching +OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:16862 semapv:UnspecifiedMatching +OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:RAPGEF5 semapv:UnspecifiedMatching +OMIM:609527 RAPGEF5 skos:exactMatch ncbigene:9771 semapv:UnspecifiedMatching +OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome skos:exactMatch MONDO:0012290 semapv:UnspecifiedMatching +OMIM:609529 immunoglobulin a deficiency 2 skos:exactMatch MONDO:0012291 semapv:UnspecifiedMatching +OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:16854 semapv:UnspecifiedMatching +OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:RAPGEF2 semapv:UnspecifiedMatching +OMIM:609530 RAPGEF2 skos:exactMatch ncbigene:9693 semapv:UnspecifiedMatching +OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:14545 semapv:UnspecifiedMatching +OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:RASGRP3 semapv:UnspecifiedMatching +OMIM:609531 RASGRP3 skos:exactMatch ncbigene:25780 semapv:UnspecifiedMatching +OMIM:609532 hepatitis c virus, susceptibility to skos:exactMatch MONDO:0012292 semapv:UnspecifiedMatching +OMIM:609532 hepatitis c virus, susceptibility to skos:exactMatch UMLS:C1835407 semapv:UnspecifiedMatching +OMIM:609533 deafness, autosomal recessive 23 skos:exactMatch MONDO:0012293 semapv:UnspecifiedMatching +OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:25752 semapv:UnspecifiedMatching +OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:ATAD5 semapv:UnspecifiedMatching +OMIM:609534 ATAD5 skos:exactMatch ncbigene:79915 semapv:UnspecifiedMatching +OMIM:609535 drug metabolism, poor, cyp2c19-related skos:exactMatch MONDO:0012294 semapv:UnspecifiedMatching +OMIM:609536 complement component 5 deficiency skos:exactMatch MONDO:0012295 semapv:UnspecifiedMatching +OMIM:609537 lipomyelomeningocele skos:exactMatch MONDO:0012296 semapv:UnspecifiedMatching +OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:26965 semapv:UnspecifiedMatching +OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:PTPMT1 semapv:UnspecifiedMatching +OMIM:609538 PTPMT1 skos:exactMatch ncbigene:114971 semapv:UnspecifiedMatching +OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:18037 semapv:UnspecifiedMatching +OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:ARID2 semapv:UnspecifiedMatching +OMIM:609539 ARID2 skos:exactMatch ncbigene:196528 semapv:UnspecifiedMatching +OMIM:609540 SKIC8 skos:exactMatch hgnc.symbol:SKIC8 semapv:UnspecifiedMatching +OMIM:609540 SKIC8 skos:exactMatch ncbigene:80349 semapv:UnspecifiedMatching +OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy skos:exactMatch MONDO:0012297 semapv:UnspecifiedMatching +OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:13531 semapv:UnspecifiedMatching +OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:ATP8A1 semapv:UnspecifiedMatching +OMIM:609542 ATP8A1 skos:exactMatch ncbigene:10396 semapv:UnspecifiedMatching +OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:39078 semapv:UnspecifiedMatching +OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:LINC00293 semapv:UnspecifiedMatching +OMIM:609543 LINC00293 skos:exactMatch ncbigene:497634 semapv:UnspecifiedMatching +OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:24342 semapv:UnspecifiedMatching +OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:CCP110 semapv:UnspecifiedMatching +OMIM:609544 CCP110 skos:exactMatch ncbigene:9738 semapv:UnspecifiedMatching +OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch MONDO:0012298 semapv:UnspecifiedMatching +OMIM:609546 USP29 skos:exactMatch hgnc.symbol:18563 semapv:UnspecifiedMatching +OMIM:609546 USP29 skos:exactMatch hgnc.symbol:USP29 semapv:UnspecifiedMatching +OMIM:609546 USP29 skos:exactMatch ncbigene:57663 semapv:UnspecifiedMatching +OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:6632 semapv:UnspecifiedMatching +OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:LMAN1L semapv:UnspecifiedMatching +OMIM:609548 LMAN1L skos:exactMatch ncbigene:79748 semapv:UnspecifiedMatching +OMIM:609549 nanophthalmos 2 skos:exactMatch MONDO:0012299 semapv:UnspecifiedMatching +OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:15462 semapv:UnspecifiedMatching +OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:ZNF330 semapv:UnspecifiedMatching +OMIM:609550 ZNF330 skos:exactMatch ncbigene:27309 semapv:UnspecifiedMatching +OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:16986 semapv:UnspecifiedMatching +OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:LMAN2 semapv:UnspecifiedMatching +OMIM:609551 LMAN2 skos:exactMatch ncbigene:10960 semapv:UnspecifiedMatching +OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:19263 semapv:UnspecifiedMatching +OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:LMAN2L semapv:UnspecifiedMatching +OMIM:609552 LMAN2L skos:exactMatch ncbigene:81562 semapv:UnspecifiedMatching +OMIM:609553 retbindin skos:exactMatch hgnc.symbol:30310 semapv:UnspecifiedMatching +OMIM:609553 retbindin skos:exactMatch hgnc.symbol:RTBDN semapv:UnspecifiedMatching +OMIM:609553 retbindin skos:exactMatch ncbigene:83546 semapv:UnspecifiedMatching +OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:6175 semapv:UnspecifiedMatching +OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:ITM2C semapv:UnspecifiedMatching +OMIM:609554 ITM2C skos:exactMatch ncbigene:81618 semapv:UnspecifiedMatching +OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:15771 semapv:UnspecifiedMatching +OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:CPXM1 semapv:UnspecifiedMatching +OMIM:609555 CPXM1 skos:exactMatch ncbigene:56265 semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch UMLS:C1540217 semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:25422 semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:ATP13A4 semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch ncbigene:84239 semapv:UnspecifiedMatching +OMIM:609557 PREPL skos:exactMatch hgnc.symbol:30228 semapv:UnspecifiedMatching +OMIM:609557 PREPL skos:exactMatch hgnc.symbol:PREPL semapv:UnspecifiedMatching +OMIM:609557 PREPL skos:exactMatch ncbigene:9581 semapv:UnspecifiedMatching +OMIM:609558 prostate cancer, hereditary, 6 skos:exactMatch MONDO:0012300 semapv:UnspecifiedMatching +OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:26276 semapv:UnspecifiedMatching +OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:CAMKMT semapv:UnspecifiedMatching +OMIM:609559 CAMKMT skos:exactMatch ncbigene:79823 semapv:UnspecifiedMatching +OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) skos:exactMatch MONDO:0012301 semapv:UnspecifiedMatching +OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:15722 semapv:UnspecifiedMatching +OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:CPA5 semapv:UnspecifiedMatching +OMIM:609561 CPA5 skos:exactMatch ncbigene:93979 semapv:UnspecifiedMatching +OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:17245 semapv:UnspecifiedMatching +OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:CPA6 semapv:UnspecifiedMatching +OMIM:609562 CPA6 skos:exactMatch ncbigene:57094 semapv:UnspecifiedMatching +OMIM:609563 CPO skos:exactMatch hgnc.symbol:21011 semapv:UnspecifiedMatching +OMIM:609563 CPO skos:exactMatch hgnc.symbol:CPO semapv:UnspecifiedMatching +OMIM:609563 CPO skos:exactMatch ncbigene:130749 semapv:UnspecifiedMatching +OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:25895 semapv:UnspecifiedMatching +OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:PARP10 semapv:UnspecifiedMatching +OMIM:609564 PARP10 skos:exactMatch ncbigene:84875 semapv:UnspecifiedMatching +OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:27291 semapv:UnspecifiedMatching +OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:MCEMP1 semapv:UnspecifiedMatching +OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch ncbigene:199675 semapv:UnspecifiedMatching +OMIM:609566 parietal foramina 3 skos:exactMatch MONDO:0012302 semapv:UnspecifiedMatching +OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:18590 semapv:UnspecifiedMatching +OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:PNPLA3 semapv:UnspecifiedMatching +OMIM:609567 PNPLA3 skos:exactMatch ncbigene:80339 semapv:UnspecifiedMatching +OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:18357 semapv:UnspecifiedMatching +OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:ARHGAP20 semapv:UnspecifiedMatching +OMIM:609568 ARHGAP20 skos:exactMatch ncbigene:57569 semapv:UnspecifiedMatching +OMIM:609570 migraine with or without aura, susceptibility to, 8 skos:exactMatch MONDO:0012303 semapv:UnspecifiedMatching +OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:24750 semapv:UnspecifiedMatching +OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:ZNF699 semapv:UnspecifiedMatching +OMIM:609571 ZNF699 skos:exactMatch ncbigene:374879 semapv:UnspecifiedMatching +OMIM:609572 photoparoxysmal response 2 skos:exactMatch MONDO:0012304 semapv:UnspecifiedMatching +OMIM:609573 photoparoxysmal response 3 skos:exactMatch MONDO:0012305 semapv:UnspecifiedMatching +OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:18646 semapv:UnspecifiedMatching +OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:HSD17B12 semapv:UnspecifiedMatching +OMIM:609574 HSD17B12 skos:exactMatch ncbigene:51144 semapv:UnspecifiedMatching +OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:92 semapv:UnspecifiedMatching +OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:ACADVL semapv:UnspecifiedMatching +OMIM:609575 ACADVL skos:exactMatch ncbigene:37 semapv:UnspecifiedMatching +OMIM:609576 ACADL skos:exactMatch hgnc.symbol:88 semapv:UnspecifiedMatching +OMIM:609576 ACADL skos:exactMatch hgnc.symbol:ACADL semapv:UnspecifiedMatching +OMIM:609576 ACADL skos:exactMatch ncbigene:33 semapv:UnspecifiedMatching +OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:21024 semapv:UnspecifiedMatching +OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:CUL7 semapv:UnspecifiedMatching +OMIM:609577 CUL7 skos:exactMatch ncbigene:9820 semapv:UnspecifiedMatching +OMIM:609578 cardiomyopathy, familial restrictive, 2 skos:exactMatch MONDO:0012306 semapv:UnspecifiedMatching +OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development skos:exactMatch MONDO:0012307 semapv:UnspecifiedMatching +OMIM:609580 NINL skos:exactMatch hgnc.symbol:29163 semapv:UnspecifiedMatching +OMIM:609580 NINL skos:exactMatch hgnc.symbol:NINL semapv:UnspecifiedMatching +OMIM:609580 NINL skos:exactMatch ncbigene:22981 semapv:UnspecifiedMatching +OMIM:609582 MIR122A skos:exactMatch hgnc.symbol:31501 semapv:UnspecifiedMatching +OMIM:609582 MIR122A skos:exactMatch hgnc.symbol:MIR122 semapv:UnspecifiedMatching +OMIM:609582 MIR122A skos:exactMatch ncbigene:406906 semapv:UnspecifiedMatching +OMIM:609583 joubert syndrome 4 skos:exactMatch MONDO:0012308 semapv:UnspecifiedMatching +OMIM:609584 L2HGDH skos:exactMatch hgnc.symbol:20499 semapv:UnspecifiedMatching +OMIM:609584 L2HGDH skos:exactMatch hgnc.symbol:L2HGDH semapv:UnspecifiedMatching +OMIM:609584 L2HGDH skos:exactMatch ncbigene:79944 semapv:UnspecifiedMatching +OMIM:609585 CPLX3 skos:exactMatch hgnc.symbol:27652 semapv:UnspecifiedMatching +OMIM:609585 CPLX3 skos:exactMatch hgnc.symbol:CPLX3 semapv:UnspecifiedMatching +OMIM:609585 CPLX3 skos:exactMatch ncbigene:594855 semapv:UnspecifiedMatching +OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:24330 semapv:UnspecifiedMatching +OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:CPLX4 semapv:UnspecifiedMatching +OMIM:609586 CPLX4 skos:exactMatch ncbigene:339302 semapv:UnspecifiedMatching +OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:30297 semapv:UnspecifiedMatching +OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:RCC2 semapv:UnspecifiedMatching +OMIM:609587 RCC2 skos:exactMatch ncbigene:55920 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch UMLS:C1825372 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225178 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225507 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:20134 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:GLRX5 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch ncbigene:51218 semapv:UnspecifiedMatching +OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:29789 semapv:UnspecifiedMatching +OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:MTUS1 semapv:UnspecifiedMatching +OMIM:609589 MTUS1 skos:exactMatch ncbigene:57509 semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch UMLS:C1427319 semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch hgnc.symbol:21100 semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch hgnc.symbol:QKI semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch ncbigene:9444 semapv:UnspecifiedMatching +OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:10023 semapv:UnspecifiedMatching +OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:RIT1 semapv:UnspecifiedMatching +OMIM:609591 RIT1 skos:exactMatch ncbigene:6016 semapv:UnspecifiedMatching +OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:10017 semapv:UnspecifiedMatching +OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:RIT2 semapv:UnspecifiedMatching +OMIM:609592 RIT2 skos:exactMatch ncbigene:6014 semapv:UnspecifiedMatching +OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:21581 semapv:UnspecifiedMatching +OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:CARMIL1 semapv:UnspecifiedMatching +OMIM:609593 CARMIL1 skos:exactMatch ncbigene:55604 semapv:UnspecifiedMatching +OMIM:609594 VEPH1 skos:exactMatch hgnc.symbol:25735 semapv:UnspecifiedMatching +OMIM:609594 VEPH1 skos:exactMatch hgnc.symbol:VEPH1 semapv:UnspecifiedMatching +OMIM:609594 VEPH1 skos:exactMatch ncbigene:79674 semapv:UnspecifiedMatching +OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:21679 semapv:UnspecifiedMatching +OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:RSPO1 semapv:UnspecifiedMatching +OMIM:609595 RSPO1 skos:exactMatch ncbigene:284654 semapv:UnspecifiedMatching +OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:24656 semapv:UnspecifiedMatching +OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:EIF3K semapv:UnspecifiedMatching +OMIM:609596 EIF3K skos:exactMatch ncbigene:27335 semapv:UnspecifiedMatching +OMIM:609597 parietal foramina 2 skos:exactMatch MONDO:0012309 semapv:UnspecifiedMatching +OMIM:609597 parietal foramina 2 skos:exactMatch Orphanet:60015 semapv:UnspecifiedMatching +OMIM:609597 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching +OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:15935 semapv:UnspecifiedMatching +OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:ZHX3 semapv:UnspecifiedMatching +OMIM:609598 ZHX3 skos:exactMatch ncbigene:23051 semapv:UnspecifiedMatching +OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:15819 semapv:UnspecifiedMatching +OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:ANKRD1 semapv:UnspecifiedMatching +OMIM:609599 ANKRD1 skos:exactMatch ncbigene:27063 semapv:UnspecifiedMatching +OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:18824 semapv:UnspecifiedMatching +OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:ZNF396 semapv:UnspecifiedMatching +OMIM:609600 ZNF396 skos:exactMatch ncbigene:252884 semapv:UnspecifiedMatching +OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:18818 semapv:UnspecifiedMatching +OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:ZNF397 semapv:UnspecifiedMatching +OMIM:609601 ZNF397 skos:exactMatch ncbigene:84307 semapv:UnspecifiedMatching +OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:18830 semapv:UnspecifiedMatching +OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:KLF17 semapv:UnspecifiedMatching +OMIM:609602 KLF17 skos:exactMatch ncbigene:128209 semapv:UnspecifiedMatching +OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:20458 semapv:UnspecifiedMatching +OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:CRYGN semapv:UnspecifiedMatching +OMIM:609603 CRYGN skos:exactMatch ncbigene:155051 semapv:UnspecifiedMatching +OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:13352 semapv:UnspecifiedMatching +OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:MAP1LC3B semapv:UnspecifiedMatching +OMIM:609604 MAP1LC3B skos:exactMatch ncbigene:81631 semapv:UnspecifiedMatching +OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:13353 semapv:UnspecifiedMatching +OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:MAP1LC3C semapv:UnspecifiedMatching +OMIM:609605 MAP1LC3C skos:exactMatch ncbigene:440738 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch UMLS:C1825493 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:20962 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:ATG3 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch ncbigene:64422 semapv:UnspecifiedMatching +OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:19688 semapv:UnspecifiedMatching +OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:NECTIN4 semapv:UnspecifiedMatching +OMIM:609607 NECTIN4 skos:exactMatch ncbigene:81607 semapv:UnspecifiedMatching +OMIM:609608 ATG12 skos:exactMatch UMLS:C1865043 semapv:UnspecifiedMatching +OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:588 semapv:UnspecifiedMatching +OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:ATG12 semapv:UnspecifiedMatching +OMIM:609608 ATG12 skos:exactMatch ncbigene:9140 semapv:UnspecifiedMatching +OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:16691 semapv:UnspecifiedMatching +OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:TUBGCP4 semapv:UnspecifiedMatching +OMIM:609610 TUBGCP4 skos:exactMatch ncbigene:27229 semapv:UnspecifiedMatching +OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:16673 semapv:UnspecifiedMatching +OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:ANP32E semapv:UnspecifiedMatching +OMIM:609611 ANP32E skos:exactMatch ncbigene:81611 semapv:UnspecifiedMatching +OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch MONDO:0012310 semapv:UnspecifiedMatching +OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:29131 semapv:UnspecifiedMatching +OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:PLEKHM2 semapv:UnspecifiedMatching +OMIM:609613 PLEKHM2 skos:exactMatch ncbigene:23207 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch UMLS:C1826798 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:24616 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:REXO1 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch ncbigene:57455 semapv:UnspecifiedMatching +OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:23797 semapv:UnspecifiedMatching +OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:QTRT1 semapv:UnspecifiedMatching +OMIM:609615 QTRT1 skos:exactMatch ncbigene:81890 semapv:UnspecifiedMatching +OMIM:609616 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch MONDO:0012311 semapv:UnspecifiedMatching +OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:11013 semapv:UnspecifiedMatching +OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:SLC30A2 semapv:UnspecifiedMatching +OMIM:609617 SLC30A2 skos:exactMatch ncbigene:7780 semapv:UnspecifiedMatching +OMIM:609618 NRON skos:exactMatch hgnc.symbol:37079 semapv:UnspecifiedMatching +OMIM:609618 NRON skos:exactMatch hgnc.symbol:NRON semapv:UnspecifiedMatching +OMIM:609618 NRON skos:exactMatch ncbigene:641373 semapv:UnspecifiedMatching +OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:31973 semapv:UnspecifiedMatching +OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:GOLGA8B semapv:UnspecifiedMatching +OMIM:609619 GOLGA8B skos:exactMatch ncbigene:440270 semapv:UnspecifiedMatching +OMIM:609620 short qt syndrome 1 skos:exactMatch MONDO:0012312 semapv:UnspecifiedMatching +OMIM:609621 short qt syndrome 2 skos:exactMatch MONDO:0012313 semapv:UnspecifiedMatching +OMIM:609622 short qt syndrome 3 skos:exactMatch MONDO:0012314 semapv:UnspecifiedMatching +OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:24716 semapv:UnspecifiedMatching +OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:RASIP1 semapv:UnspecifiedMatching +OMIM:609623 RASIP1 skos:exactMatch ncbigene:54922 semapv:UnspecifiedMatching +OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:20668 semapv:UnspecifiedMatching +OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:MCCD1 semapv:UnspecifiedMatching +OMIM:609624 MCCD1 skos:exactMatch ncbigene:401250 semapv:UnspecifiedMatching +OMIM:609625 chromosome 10q26 deletion syndrome skos:exactMatch MONDO:0012315 semapv:UnspecifiedMatching +OMIM:609626 MDGA1 skos:exactMatch hgnc.symbol:19267 semapv:UnspecifiedMatching +OMIM:609626 MDGA1 skos:exactMatch hgnc.symbol:MDGA1 semapv:UnspecifiedMatching +OMIM:609626 MDGA1 skos:exactMatch ncbigene:266727 semapv:UnspecifiedMatching +OMIM:609627 TAS2R50 skos:exactMatch hgnc.symbol:18882 semapv:UnspecifiedMatching +OMIM:609627 TAS2R50 skos:exactMatch hgnc.symbol:TAS2R50 semapv:UnspecifiedMatching +OMIM:609627 TAS2R50 skos:exactMatch ncbigene:259296 semapv:UnspecifiedMatching +OMIM:609628 majeed syndrome skos:exactMatch MONDO:0012316 semapv:UnspecifiedMatching +OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch MONDO:0012317 semapv:UnspecifiedMatching +OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch MONDO:0012318 semapv:UnspecifiedMatching +OMIM:609631 DDX58 skos:exactMatch UMLS:C1539233 semapv:UnspecifiedMatching +OMIM:609631 DDX58 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching +OMIM:609631 DDX58 skos:exactMatch hgnc.symbol:RIGI semapv:UnspecifiedMatching +OMIM:609631 DDX58 skos:exactMatch ncbigene:23586 semapv:UnspecifiedMatching +OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:28804 semapv:UnspecifiedMatching +OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:GDPD5 semapv:UnspecifiedMatching +OMIM:609632 GDPD5 skos:exactMatch ncbigene:81544 semapv:UnspecifiedMatching +OMIM:609633 major affective disorder 3 skos:exactMatch MONDO:0012319 semapv:UnspecifiedMatching +OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch MONDO:0012320 semapv:UnspecifiedMatching +OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching +OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching +OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:18602 semapv:UnspecifiedMatching +OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:TCF23 semapv:UnspecifiedMatching +OMIM:609635 TCF23 skos:exactMatch ncbigene:150921 semapv:UnspecifiedMatching +OMIM:609636 alzheimer disease 10 skos:exactMatch MONDO:0012321 semapv:UnspecifiedMatching +OMIM:609637 holoprosencephaly 5 skos:exactMatch MONDO:0012322 semapv:UnspecifiedMatching +OMIM:609638 epidermolysis bullosa, lethal acantholytic skos:exactMatch MONDO:0012323 semapv:UnspecifiedMatching +OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:4826 semapv:UnspecifiedMatching +OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:HBM semapv:UnspecifiedMatching +OMIM:609639 hemoglobin mu skos:exactMatch ncbigene:3042 semapv:UnspecifiedMatching +OMIM:609640 frias syndrome skos:exactMatch MONDO:0012324 semapv:UnspecifiedMatching +OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:24460 semapv:UnspecifiedMatching +OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:EIF3M semapv:UnspecifiedMatching +OMIM:609641 EIF3M skos:exactMatch ncbigene:10480 semapv:UnspecifiedMatching +OMIM:609642 t-cell antigen receptor, gamma subunit, alternate reading frame protein skos:exactMatch ncbigene:445347 semapv:UnspecifiedMatching +OMIM:609643 nguyen syndrome skos:exactMatch MONDO:0012325 semapv:UnspecifiedMatching +OMIM:609644 FANCM skos:exactMatch hgnc.symbol:23168 semapv:UnspecifiedMatching +OMIM:609644 FANCM skos:exactMatch hgnc.symbol:FANCM semapv:UnspecifiedMatching +OMIM:609644 FANCM skos:exactMatch ncbigene:57697 semapv:UnspecifiedMatching +OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:22943 semapv:UnspecifiedMatching +OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:NLRP4 semapv:UnspecifiedMatching +OMIM:609645 NLRP4 skos:exactMatch ncbigene:147945 semapv:UnspecifiedMatching +OMIM:609646 deafness, autosomal recessive 42 skos:exactMatch MONDO:0012326 semapv:UnspecifiedMatching +OMIM:609647 deafness, autosomal recessive 46 skos:exactMatch MONDO:0012327 semapv:UnspecifiedMatching +OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:22938 semapv:UnspecifiedMatching +OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:NLRP12 semapv:UnspecifiedMatching +OMIM:609648 NLRP12 skos:exactMatch ncbigene:91662 semapv:UnspecifiedMatching +OMIM:609649 trichilemmal cyst 1 skos:exactMatch MONDO:0012328 semapv:UnspecifiedMatching +OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:22944 semapv:UnspecifiedMatching +OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:NLRP6 semapv:UnspecifiedMatching +OMIM:609650 NLRP6 skos:exactMatch ncbigene:171389 semapv:UnspecifiedMatching +OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:18054 semapv:UnspecifiedMatching +OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:GPHA2 semapv:UnspecifiedMatching +OMIM:609651 GPHA2 skos:exactMatch ncbigene:170589 semapv:UnspecifiedMatching +OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:18055 semapv:UnspecifiedMatching +OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:GPHB5 semapv:UnspecifiedMatching +OMIM:609652 GPHB5 skos:exactMatch ncbigene:122876 semapv:UnspecifiedMatching +OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:28086 semapv:UnspecifiedMatching +OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:NDUFAF2 semapv:UnspecifiedMatching +OMIM:609653 NDUFAF2 skos:exactMatch ncbigene:91942 semapv:UnspecifiedMatching +OMIM:609654 short stature and facioauriculothoracic malformations skos:exactMatch MONDO:0012329 semapv:UnspecifiedMatching +OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals skos:exactMatch MONDO:0012330 semapv:UnspecifiedMatching +OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:21269 semapv:UnspecifiedMatching +OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:NLRP5 semapv:UnspecifiedMatching +OMIM:609658 NLRP5 skos:exactMatch ncbigene:126206 semapv:UnspecifiedMatching +OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:22940 semapv:UnspecifiedMatching +OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:NLRP8 semapv:UnspecifiedMatching +OMIM:609659 NLRP8 skos:exactMatch ncbigene:126205 semapv:UnspecifiedMatching +OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:22937 semapv:UnspecifiedMatching +OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:NLRP13 semapv:UnspecifiedMatching +OMIM:609660 NLRP13 skos:exactMatch ncbigene:126204 semapv:UnspecifiedMatching +OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:22947 semapv:UnspecifiedMatching +OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:NLRP7 semapv:UnspecifiedMatching +OMIM:609661 NLRP7 skos:exactMatch ncbigene:199713 semapv:UnspecifiedMatching +OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:21464 semapv:UnspecifiedMatching +OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:NLRP10 semapv:UnspecifiedMatching +OMIM:609662 NLRP10 skos:exactMatch ncbigene:338322 semapv:UnspecifiedMatching +OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:22941 semapv:UnspecifiedMatching +OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:NLRP9 semapv:UnspecifiedMatching +OMIM:609663 NLRP9 skos:exactMatch ncbigene:338321 semapv:UnspecifiedMatching +OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:22945 semapv:UnspecifiedMatching +OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:NLRP11 semapv:UnspecifiedMatching +OMIM:609664 NLRP11 skos:exactMatch ncbigene:204801 semapv:UnspecifiedMatching +OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:22939 semapv:UnspecifiedMatching +OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:NLRP14 semapv:UnspecifiedMatching +OMIM:609665 NLRP14 skos:exactMatch ncbigene:338323 semapv:UnspecifiedMatching +OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:18182 semapv:UnspecifiedMatching +OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:TPCN1 semapv:UnspecifiedMatching +OMIM:609666 TPCN1 skos:exactMatch ncbigene:53373 semapv:UnspecifiedMatching +OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:15669 semapv:UnspecifiedMatching +OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:TAGAP semapv:UnspecifiedMatching +OMIM:609667 TAGAP skos:exactMatch ncbigene:117289 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch UMLS:C1826668 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:30695 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:PPTC7 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch ncbigene:160760 semapv:UnspecifiedMatching +OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:30696 semapv:UnspecifiedMatching +OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:WDR36 semapv:UnspecifiedMatching +OMIM:609669 WDR36 skos:exactMatch ncbigene:134430 semapv:UnspecifiedMatching +OMIM:609670 migraine with aura, susceptibility to, 9 skos:exactMatch MONDO:0012331 semapv:UnspecifiedMatching +OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:24592 semapv:UnspecifiedMatching +OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:STEAP3 semapv:UnspecifiedMatching +OMIM:609671 STEAP3 skos:exactMatch ncbigene:55240 semapv:UnspecifiedMatching +OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:23196 semapv:UnspecifiedMatching +OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:EXOC6 semapv:UnspecifiedMatching +OMIM:609672 EXOC6 skos:exactMatch ncbigene:54536 semapv:UnspecifiedMatching +OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:30620 semapv:UnspecifiedMatching +OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:PDGFD semapv:UnspecifiedMatching +OMIM:609673 PDGFD skos:exactMatch ncbigene:80310 semapv:UnspecifiedMatching +OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:24645 semapv:UnspecifiedMatching +OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:ESCO1 semapv:UnspecifiedMatching +OMIM:609674 ESCO1 skos:exactMatch ncbigene:114799 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch UMLS:C1427738 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:21748 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:SOSTDC1 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch ncbigene:25928 semapv:UnspecifiedMatching +OMIM:609676 MAVS skos:exactMatch hgnc.symbol:29233 semapv:UnspecifiedMatching +OMIM:609676 MAVS skos:exactMatch hgnc.symbol:MAVS semapv:UnspecifiedMatching +OMIM:609676 MAVS skos:exactMatch ncbigene:57506 semapv:UnspecifiedMatching +OMIM:609677 OS9 skos:exactMatch hgnc.symbol:16994 semapv:UnspecifiedMatching +OMIM:609677 OS9 skos:exactMatch hgnc.symbol:OS9 semapv:UnspecifiedMatching +OMIM:609677 OS9 skos:exactMatch ncbigene:10956 semapv:UnspecifiedMatching +OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:20297 semapv:UnspecifiedMatching +OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:SLITRK1 semapv:UnspecifiedMatching +OMIM:609678 SLITRK1 skos:exactMatch ncbigene:114798 semapv:UnspecifiedMatching +OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:23501 semapv:UnspecifiedMatching +OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:SLITRK3 semapv:UnspecifiedMatching +OMIM:609679 SLITRK3 skos:exactMatch ncbigene:22865 semapv:UnspecifiedMatching +OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:20295 semapv:UnspecifiedMatching +OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:SLITRK5 semapv:UnspecifiedMatching +OMIM:609680 SLITRK5 skos:exactMatch ncbigene:26050 semapv:UnspecifiedMatching +OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:23503 semapv:UnspecifiedMatching +OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:SLITRK6 semapv:UnspecifiedMatching +OMIM:609681 SLITRK6 skos:exactMatch ncbigene:84189 semapv:UnspecifiedMatching +OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:17660 semapv:UnspecifiedMatching +OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:DCLRE1A semapv:UnspecifiedMatching +OMIM:609682 DCLRE1A skos:exactMatch ncbigene:9937 semapv:UnspecifiedMatching +OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:17641 semapv:UnspecifiedMatching +OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:DCLRE1B semapv:UnspecifiedMatching +OMIM:609683 DCLRE1B skos:exactMatch ncbigene:64858 semapv:UnspecifiedMatching +OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:13634 semapv:UnspecifiedMatching +OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:MAL2 semapv:UnspecifiedMatching +OMIM:609684 MAL2 skos:exactMatch ncbigene:114569 semapv:UnspecifiedMatching +OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:30777 semapv:UnspecifiedMatching +OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:CDCA7L semapv:UnspecifiedMatching +OMIM:609685 CDCA7L skos:exactMatch ncbigene:55536 semapv:UnspecifiedMatching +OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:18355 semapv:UnspecifiedMatching +OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:CLYBL semapv:UnspecifiedMatching +OMIM:609686 CLYBL skos:exactMatch ncbigene:171425 semapv:UnspecifiedMatching +OMIM:609687 MIR196A2 skos:exactMatch hgnc.symbol:31568 semapv:UnspecifiedMatching +OMIM:609687 MIR196A2 skos:exactMatch hgnc.symbol:MIR196A2 semapv:UnspecifiedMatching +OMIM:609687 MIR196A2 skos:exactMatch ncbigene:406973 semapv:UnspecifiedMatching +OMIM:609688 MIR196B skos:exactMatch hgnc.symbol:31790 semapv:UnspecifiedMatching +OMIM:609688 MIR196B skos:exactMatch hgnc.symbol:MIR196B semapv:UnspecifiedMatching +OMIM:609688 MIR196B skos:exactMatch ncbigene:442920 semapv:UnspecifiedMatching +OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:1859 semapv:UnspecifiedMatching +OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:CEP250 semapv:UnspecifiedMatching +OMIM:609689 CEP250 skos:exactMatch ncbigene:11190 semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch UMLS:C1425085 semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch hgnc.symbol:17800 semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch hgnc.symbol:FARSB semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch ncbigene:10056 semapv:UnspecifiedMatching +OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:26178 semapv:UnspecifiedMatching +OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:FHOD3 semapv:UnspecifiedMatching +OMIM:609691 FHOD3 skos:exactMatch ncbigene:80206 semapv:UnspecifiedMatching +OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:30923 semapv:UnspecifiedMatching +OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:WIPF2 semapv:UnspecifiedMatching +OMIM:609692 WIPF2 skos:exactMatch ncbigene:147179 semapv:UnspecifiedMatching +OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:13939 semapv:UnspecifiedMatching +OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:VWA7 semapv:UnspecifiedMatching +OMIM:609693 VWA7 skos:exactMatch ncbigene:80737 semapv:UnspecifiedMatching +OMIM:609694 GMIP skos:exactMatch hgnc.symbol:24852 semapv:UnspecifiedMatching +OMIM:609694 GMIP skos:exactMatch hgnc.symbol:GMIP semapv:UnspecifiedMatching +OMIM:609694 GMIP skos:exactMatch ncbigene:51291 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch UMLS:C1415696 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch hgnc.symbol:5147 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch hgnc.symbol:HPD semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch ncbigene:3242 semapv:UnspecifiedMatching +OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:15550 semapv:UnspecifiedMatching +OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:ARID4B semapv:UnspecifiedMatching +OMIM:609696 ARID4B skos:exactMatch ncbigene:51742 semapv:UnspecifiedMatching +OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:29813 semapv:UnspecifiedMatching +OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:SAP130 semapv:UnspecifiedMatching +OMIM:609697 SAP130 skos:exactMatch ncbigene:79595 semapv:UnspecifiedMatching +OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch MONDO:0800046 semapv:UnspecifiedMatching +OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch Orphanet:171706 semapv:UnspecifiedMatching +OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch UMLS:C1864761 semapv:UnspecifiedMatching +OMIM:609699 MGLL skos:exactMatch hgnc.symbol:17038 semapv:UnspecifiedMatching +OMIM:609699 MGLL skos:exactMatch hgnc.symbol:MGLL semapv:UnspecifiedMatching +OMIM:609699 MGLL skos:exactMatch ncbigene:11343 semapv:UnspecifiedMatching +OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:17676 semapv:UnspecifiedMatching +OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:RABGEF1 semapv:UnspecifiedMatching +OMIM:609700 RABGEF1 skos:exactMatch ncbigene:27342 semapv:UnspecifiedMatching +OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:7632 semapv:UnspecifiedMatching +OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:NAGLU semapv:UnspecifiedMatching +OMIM:609701 NAGLU skos:exactMatch ncbigene:4669 semapv:UnspecifiedMatching +OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:24929 semapv:UnspecifiedMatching +OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:PSMG2 semapv:UnspecifiedMatching +OMIM:609702 PSMG2 skos:exactMatch ncbigene:56984 semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch UMLS:C1537709 semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:31543 semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:MIR15A semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch ncbigene:406948 semapv:UnspecifiedMatching +OMIM:609704 MIR16-1 skos:exactMatch UMLS:C1537711 semapv:UnspecifiedMatching +OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:31545 semapv:UnspecifiedMatching +OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:MIR16-1 semapv:UnspecifiedMatching +OMIM:609704 MIR16-1 skos:exactMatch ncbigene:406950 semapv:UnspecifiedMatching +OMIM:609705 MIR24-1 skos:exactMatch hgnc.symbol:31607 semapv:UnspecifiedMatching +OMIM:609705 MIR24-1 skos:exactMatch hgnc.symbol:MIR24-1 semapv:UnspecifiedMatching +OMIM:609705 MIR24-1 skos:exactMatch ncbigene:407012 semapv:UnspecifiedMatching +OMIM:609706 deafness, autosomal recessive 53 skos:exactMatch MONDO:0012333 semapv:UnspecifiedMatching +OMIM:609707 DUS2L skos:exactMatch hgnc.symbol:26014 semapv:UnspecifiedMatching +OMIM:609707 DUS2L skos:exactMatch hgnc.symbol:DUS2 semapv:UnspecifiedMatching +OMIM:609707 DUS2L skos:exactMatch ncbigene:54920 semapv:UnspecifiedMatching +OMIM:609708 LPL skos:exactMatch hgnc.symbol:6677 semapv:UnspecifiedMatching +OMIM:609708 LPL skos:exactMatch hgnc.symbol:LPL semapv:UnspecifiedMatching +OMIM:609708 LPL skos:exactMatch ncbigene:4023 semapv:UnspecifiedMatching +OMIM:609709 GYLTL1B skos:exactMatch hgnc.symbol:16522 semapv:UnspecifiedMatching +OMIM:609709 GYLTL1B skos:exactMatch hgnc.symbol:LARGE2 semapv:UnspecifiedMatching +OMIM:609709 GYLTL1B skos:exactMatch ncbigene:120071 semapv:UnspecifiedMatching +OMIM:609710 DCANP1 skos:exactMatch hgnc.symbol:24459 semapv:UnspecifiedMatching +OMIM:609710 DCANP1 skos:exactMatch hgnc.symbol:DCANP1 semapv:UnspecifiedMatching +OMIM:609710 DCANP1 skos:exactMatch ncbigene:140947 semapv:UnspecifiedMatching +OMIM:609711 UQCR11 skos:exactMatch hgnc.symbol:30862 semapv:UnspecifiedMatching +OMIM:609711 UQCR11 skos:exactMatch hgnc.symbol:UQCR11 semapv:UnspecifiedMatching +OMIM:609711 UQCR11 skos:exactMatch ncbigene:10975 semapv:UnspecifiedMatching +OMIM:609712 PKLR skos:exactMatch hgnc.symbol:9020 semapv:UnspecifiedMatching +OMIM:609712 PKLR skos:exactMatch hgnc.symbol:PKLR semapv:UnspecifiedMatching +OMIM:609712 PKLR skos:exactMatch ncbigene:5313 semapv:UnspecifiedMatching +OMIM:609713 HUS1B skos:exactMatch hgnc.symbol:16485 semapv:UnspecifiedMatching +OMIM:609713 HUS1B skos:exactMatch hgnc.symbol:HUS1B semapv:UnspecifiedMatching +OMIM:609713 HUS1B skos:exactMatch ncbigene:135458 semapv:UnspecifiedMatching +OMIM:609714 TREML1 skos:exactMatch hgnc.symbol:20434 semapv:UnspecifiedMatching +OMIM:609714 TREML1 skos:exactMatch hgnc.symbol:TREML1 semapv:UnspecifiedMatching +OMIM:609714 TREML1 skos:exactMatch ncbigene:340205 semapv:UnspecifiedMatching +OMIM:609715 TREML2 skos:exactMatch hgnc.symbol:21092 semapv:UnspecifiedMatching +OMIM:609715 TREML2 skos:exactMatch hgnc.symbol:TREML2 semapv:UnspecifiedMatching +OMIM:609715 TREML2 skos:exactMatch ncbigene:79865 semapv:UnspecifiedMatching +OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:30806 semapv:UnspecifiedMatching +OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:TREML3P semapv:UnspecifiedMatching +OMIM:609716 TREML3 skos:exactMatch ncbigene:340206 semapv:UnspecifiedMatching +OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:24853 semapv:UnspecifiedMatching +OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:PCAT4 semapv:UnspecifiedMatching +OMIM:609717 PCAT4 skos:exactMatch ncbigene:118425 semapv:UnspecifiedMatching +OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:6588 semapv:UnspecifiedMatching +OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:LHFPL2 semapv:UnspecifiedMatching +OMIM:609718 LHFPL2 skos:exactMatch ncbigene:10184 semapv:UnspecifiedMatching +OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:6589 semapv:UnspecifiedMatching +OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:LHFPL3 semapv:UnspecifiedMatching +OMIM:609719 LHFPL3 skos:exactMatch ncbigene:375612 semapv:UnspecifiedMatching +OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:18688 semapv:UnspecifiedMatching +OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:CRB2 semapv:UnspecifiedMatching +OMIM:609720 CRB2 skos:exactMatch ncbigene:286204 semapv:UnspecifiedMatching +OMIM:609721 PKD1L1 skos:exactMatch hgnc.symbol:18053 semapv:UnspecifiedMatching +OMIM:609721 PKD1L1 skos:exactMatch hgnc.symbol:PKD1L1 semapv:UnspecifiedMatching +OMIM:609721 PKD1L1 skos:exactMatch ncbigene:168507 semapv:UnspecifiedMatching +OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:13992 semapv:UnspecifiedMatching +OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:PDLIM2 semapv:UnspecifiedMatching +OMIM:609722 PDLIM2 skos:exactMatch ncbigene:64236 semapv:UnspecifiedMatching +OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:18326 semapv:UnspecifiedMatching +OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:YPEL2 semapv:UnspecifiedMatching +OMIM:609723 YPEL2 skos:exactMatch ncbigene:388403 semapv:UnspecifiedMatching +OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:18327 semapv:UnspecifiedMatching +OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:YPEL3 semapv:UnspecifiedMatching +OMIM:609724 YPEL3 skos:exactMatch ncbigene:83719 semapv:UnspecifiedMatching +OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:18328 semapv:UnspecifiedMatching +OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:YPEL4 semapv:UnspecifiedMatching +OMIM:609725 YPEL4 skos:exactMatch ncbigene:219539 semapv:UnspecifiedMatching +OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:18329 semapv:UnspecifiedMatching +OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:YPEL5 semapv:UnspecifiedMatching +OMIM:609726 YPEL5 skos:exactMatch ncbigene:51646 semapv:UnspecifiedMatching +OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch MONDO:0012334 semapv:UnspecifiedMatching +OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching +OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching +OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:25133 semapv:UnspecifiedMatching +OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:MARS2 semapv:UnspecifiedMatching +OMIM:609728 MARS2 skos:exactMatch ncbigene:92935 semapv:UnspecifiedMatching +OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:17704 semapv:UnspecifiedMatching +OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:PDZRN3 semapv:UnspecifiedMatching +OMIM:609729 PDZRN3 skos:exactMatch ncbigene:23024 semapv:UnspecifiedMatching +OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:30552 semapv:UnspecifiedMatching +OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:PDZRN4 semapv:UnspecifiedMatching +OMIM:609730 PDZRN4 skos:exactMatch ncbigene:29951 semapv:UnspecifiedMatching +OMIM:609731 CST11 skos:exactMatch hgnc.symbol:15959 semapv:UnspecifiedMatching +OMIM:609731 CST11 skos:exactMatch hgnc.symbol:CST11 semapv:UnspecifiedMatching +OMIM:609731 CST11 skos:exactMatch ncbigene:140880 semapv:UnspecifiedMatching +OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:6657 semapv:UnspecifiedMatching +OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:LNX1 semapv:UnspecifiedMatching +OMIM:609732 LNX1 skos:exactMatch ncbigene:84708 semapv:UnspecifiedMatching +OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:20421 semapv:UnspecifiedMatching +OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:LNX2 semapv:UnspecifiedMatching +OMIM:609733 LNX2 skos:exactMatch ncbigene:222484 semapv:UnspecifiedMatching +OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair skos:exactMatch MONDO:0012335 semapv:UnspecifiedMatching +OMIM:609735 RFFL skos:exactMatch hgnc.symbol:24821 semapv:UnspecifiedMatching +OMIM:609735 RFFL skos:exactMatch hgnc.symbol:RFFL semapv:UnspecifiedMatching +OMIM:609735 RFFL skos:exactMatch ncbigene:117584 semapv:UnspecifiedMatching +OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:25523 semapv:UnspecifiedMatching +OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:CCDC88A semapv:UnspecifiedMatching +OMIM:609736 CCDC88A skos:exactMatch ncbigene:55704 semapv:UnspecifiedMatching +OMIM:609737 CRB3 skos:exactMatch UMLS:C1426800 semapv:UnspecifiedMatching +OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:20237 semapv:UnspecifiedMatching +OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:CRB3 semapv:UnspecifiedMatching +OMIM:609737 CRB3 skos:exactMatch ncbigene:92359 semapv:UnspecifiedMatching +OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:18132 semapv:UnspecifiedMatching +OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:IGSF9 semapv:UnspecifiedMatching +OMIM:609738 IGSF9 skos:exactMatch ncbigene:57549 semapv:UnspecifiedMatching +OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:28741 semapv:UnspecifiedMatching +OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:ILDR1 semapv:UnspecifiedMatching +OMIM:609739 ILDR1 skos:exactMatch ncbigene:286676 semapv:UnspecifiedMatching +OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:24566 semapv:UnspecifiedMatching +OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:PHF19 semapv:UnspecifiedMatching +OMIM:609740 PHF19 skos:exactMatch ncbigene:26147 semapv:UnspecifiedMatching +OMIM:609741 cataract 22, multiple types skos:exactMatch MONDO:0012336 semapv:UnspecifiedMatching +OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:19094 semapv:UnspecifiedMatching +OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:IL4I1 semapv:UnspecifiedMatching +OMIM:609742 IL4I1 skos:exactMatch ncbigene:259307 semapv:UnspecifiedMatching +OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:17601 semapv:UnspecifiedMatching +OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:CADM3 semapv:UnspecifiedMatching +OMIM:609743 CADM3 skos:exactMatch ncbigene:57863 semapv:UnspecifiedMatching +OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:30825 semapv:UnspecifiedMatching +OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:CADM4 semapv:UnspecifiedMatching +OMIM:609744 CADM4 skos:exactMatch ncbigene:199731 semapv:UnspecifiedMatching +OMIM:609745 glaucoma 1, open angle, 1 skos:exactMatch MONDO:0012337 semapv:UnspecifiedMatching +OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:26099 semapv:UnspecifiedMatching +OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:ARHGAP10 semapv:UnspecifiedMatching +OMIM:609746 ARHGAP10 skos:exactMatch ncbigene:79658 semapv:UnspecifiedMatching +OMIM:609747 ABRA skos:exactMatch hgnc.symbol:30655 semapv:UnspecifiedMatching +OMIM:609747 ABRA skos:exactMatch hgnc.symbol:ABRA semapv:UnspecifiedMatching +OMIM:609747 ABRA skos:exactMatch ncbigene:137735 semapv:UnspecifiedMatching +OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:28221 semapv:UnspecifiedMatching +OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:UBL7 semapv:UnspecifiedMatching +OMIM:609748 UBL7 skos:exactMatch ncbigene:84993 semapv:UnspecifiedMatching +OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:17729 semapv:UnspecifiedMatching +OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:UXS1 semapv:UnspecifiedMatching +OMIM:609749 UXS1 skos:exactMatch ncbigene:80146 semapv:UnspecifiedMatching +OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch MONDO:0012338 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch UMLS:C1412128 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:119 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:ACOX1 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch ncbigene:51 semapv:UnspecifiedMatching +OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:21081 semapv:UnspecifiedMatching +OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:NCOA7 semapv:UnspecifiedMatching +OMIM:609752 NCOA7 skos:exactMatch ncbigene:135112 semapv:UnspecifiedMatching +OMIM:609753 celiac disease, susceptibility to, 4 skos:exactMatch MONDO:0012339 semapv:UnspecifiedMatching +OMIM:609754 celiac disease, susceptibility to, 2 skos:exactMatch MONDO:0012340 semapv:UnspecifiedMatching +OMIM:609755 celiac disease, susceptibility to, 3 skos:exactMatch MONDO:0012341 semapv:UnspecifiedMatching +OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:15781 semapv:UnspecifiedMatching +OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:CHRFAM7A semapv:UnspecifiedMatching +OMIM:609756 CHRFAM7A skos:exactMatch ncbigene:89832 semapv:UnspecifiedMatching +OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch MONDO:0012342 semapv:UnspecifiedMatching +OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch Orphanet:96121 semapv:UnspecifiedMatching +OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch UMLS:C1857844 semapv:UnspecifiedMatching +OMIM:609758 NKAIN2 skos:exactMatch hgnc.symbol:16443 semapv:UnspecifiedMatching +OMIM:609758 NKAIN2 skos:exactMatch hgnc.symbol:NKAIN2 semapv:UnspecifiedMatching +OMIM:609758 NKAIN2 skos:exactMatch ncbigene:154215 semapv:UnspecifiedMatching +OMIM:609759 PRDM7 skos:exactMatch hgnc.symbol:9351 semapv:UnspecifiedMatching +OMIM:609759 PRDM7 skos:exactMatch hgnc.symbol:PRDM7 semapv:UnspecifiedMatching +OMIM:609759 PRDM7 skos:exactMatch ncbigene:11105 semapv:UnspecifiedMatching +OMIM:609760 PRDM9 skos:exactMatch hgnc.symbol:13994 semapv:UnspecifiedMatching +OMIM:609760 PRDM9 skos:exactMatch hgnc.symbol:PRDM9 semapv:UnspecifiedMatching +OMIM:609760 PRDM9 skos:exactMatch ncbigene:56979 semapv:UnspecifiedMatching +OMIM:609761 TRIOBP skos:exactMatch hgnc.symbol:17009 semapv:UnspecifiedMatching +OMIM:609761 TRIOBP skos:exactMatch hgnc.symbol:TRIOBP semapv:UnspecifiedMatching +OMIM:609761 TRIOBP skos:exactMatch ncbigene:11078 semapv:UnspecifiedMatching +OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:20914 semapv:UnspecifiedMatching +OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:BLOC1S3 semapv:UnspecifiedMatching +OMIM:609762 BLOC1S3 skos:exactMatch ncbigene:388552 semapv:UnspecifiedMatching +OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:30031 semapv:UnspecifiedMatching +OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:PI4K2A semapv:UnspecifiedMatching +OMIM:609763 PI4K2A skos:exactMatch ncbigene:55361 semapv:UnspecifiedMatching +OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:22978 semapv:UnspecifiedMatching +OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:KDM4A semapv:UnspecifiedMatching +OMIM:609764 KDM4A skos:exactMatch ncbigene:9682 semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch UMLS:C1428797 semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:29136 semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:KDM4B semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch ncbigene:23030 semapv:UnspecifiedMatching +OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:25498 semapv:UnspecifiedMatching +OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:KDM4D semapv:UnspecifiedMatching +OMIM:609766 KDM4D skos:exactMatch ncbigene:55693 semapv:UnspecifiedMatching +OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:23472 semapv:UnspecifiedMatching +OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:SLC25A28 semapv:UnspecifiedMatching +OMIM:609767 SLC25A28 skos:exactMatch ncbigene:81894 semapv:UnspecifiedMatching +OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:20984 semapv:UnspecifiedMatching +OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:BLOC1S2 semapv:UnspecifiedMatching +OMIM:609768 BLOC1S2 skos:exactMatch ncbigene:282991 semapv:UnspecifiedMatching +OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:29958 semapv:UnspecifiedMatching +OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:SDR9C7 semapv:UnspecifiedMatching +OMIM:609769 SDR9C7 skos:exactMatch ncbigene:121214 semapv:UnspecifiedMatching +OMIM:609770 JAML skos:exactMatch hgnc.symbol:19084 semapv:UnspecifiedMatching +OMIM:609770 JAML skos:exactMatch hgnc.symbol:JAML semapv:UnspecifiedMatching +OMIM:609770 JAML skos:exactMatch ncbigene:120425 semapv:UnspecifiedMatching +OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:12506 semapv:UnspecifiedMatching +OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:UBN1 semapv:UnspecifiedMatching +OMIM:609771 UBN1 skos:exactMatch ncbigene:29855 semapv:UnspecifiedMatching +OMIM:609772 CTTNBP2 skos:exactMatch hgnc.symbol:15679 semapv:UnspecifiedMatching +OMIM:609772 CTTNBP2 skos:exactMatch hgnc.symbol:CTTNBP2 semapv:UnspecifiedMatching +OMIM:609772 CTTNBP2 skos:exactMatch ncbigene:83992 semapv:UnspecifiedMatching +OMIM:609773 EID2 skos:exactMatch hgnc.symbol:28292 semapv:UnspecifiedMatching +OMIM:609773 EID2 skos:exactMatch hgnc.symbol:EID2 semapv:UnspecifiedMatching +OMIM:609773 EID2 skos:exactMatch ncbigene:163126 semapv:UnspecifiedMatching +OMIM:609774 API5 skos:exactMatch hgnc.symbol:594 semapv:UnspecifiedMatching +OMIM:609774 API5 skos:exactMatch hgnc.symbol:API5 semapv:UnspecifiedMatching +OMIM:609774 API5 skos:exactMatch ncbigene:8539 semapv:UnspecifiedMatching +OMIM:609775 YIPF3 skos:exactMatch hgnc.symbol:21023 semapv:UnspecifiedMatching +OMIM:609775 YIPF3 skos:exactMatch hgnc.symbol:YIPF3 semapv:UnspecifiedMatching +OMIM:609775 YIPF3 skos:exactMatch ncbigene:25844 semapv:UnspecifiedMatching +OMIM:609776 PRAP1 skos:exactMatch hgnc.symbol:23304 semapv:UnspecifiedMatching +OMIM:609776 PRAP1 skos:exactMatch hgnc.symbol:PRAP1 semapv:UnspecifiedMatching +OMIM:609776 PRAP1 skos:exactMatch ncbigene:118471 semapv:UnspecifiedMatching +OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:14301 semapv:UnspecifiedMatching +OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:XIRP1 semapv:UnspecifiedMatching +OMIM:609777 XIRP1 skos:exactMatch ncbigene:165904 semapv:UnspecifiedMatching +OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:14303 semapv:UnspecifiedMatching +OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:XIRP2 semapv:UnspecifiedMatching +OMIM:609778 XIRP2 skos:exactMatch ncbigene:129446 semapv:UnspecifiedMatching +OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:18593 semapv:UnspecifiedMatching +OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:NEK11 semapv:UnspecifiedMatching +OMIM:609779 NEK11 skos:exactMatch ncbigene:79858 semapv:UnspecifiedMatching +OMIM:609780 CPVL skos:exactMatch hgnc.symbol:14399 semapv:UnspecifiedMatching +OMIM:609780 CPVL skos:exactMatch hgnc.symbol:CPVL semapv:UnspecifiedMatching +OMIM:609780 CPVL skos:exactMatch ncbigene:54504 semapv:UnspecifiedMatching +OMIM:609782 aortic aneurysm, familial abdominal, 2 skos:exactMatch MONDO:0012343 semapv:UnspecifiedMatching +OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:21449 semapv:UnspecifiedMatching +OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:ITIH5 semapv:UnspecifiedMatching +OMIM:609783 ITIH5 skos:exactMatch ncbigene:80760 semapv:UnspecifiedMatching +OMIM:609784 UBP1 skos:exactMatch hgnc.symbol:12507 semapv:UnspecifiedMatching +OMIM:609784 UBP1 skos:exactMatch hgnc.symbol:UBP1 semapv:UnspecifiedMatching +OMIM:609784 UBP1 skos:exactMatch ncbigene:7342 semapv:UnspecifiedMatching +OMIM:609785 TFCP2L1 skos:exactMatch hgnc.symbol:17925 semapv:UnspecifiedMatching +OMIM:609785 TFCP2L1 skos:exactMatch hgnc.symbol:TFCP2L1 semapv:UnspecifiedMatching +OMIM:609785 TFCP2L1 skos:exactMatch ncbigene:29842 semapv:UnspecifiedMatching +OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:17923 semapv:UnspecifiedMatching +OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:GRHL1 semapv:UnspecifiedMatching +OMIM:609786 GRHL1 skos:exactMatch ncbigene:29841 semapv:UnspecifiedMatching +OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:12461 semapv:UnspecifiedMatching +OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:UBAP1 semapv:UnspecifiedMatching +OMIM:609787 UBAP1 skos:exactMatch ncbigene:51271 semapv:UnspecifiedMatching +OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:18868 semapv:UnspecifiedMatching +OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:XRRA1 semapv:UnspecifiedMatching +OMIM:609788 XRRA1 skos:exactMatch ncbigene:143570 semapv:UnspecifiedMatching +OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:19941 semapv:UnspecifiedMatching +OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:AQP12A semapv:UnspecifiedMatching +OMIM:609789 AQP12A skos:exactMatch ncbigene:375318 semapv:UnspecifiedMatching +OMIM:609790 alzheimer disease 11 skos:exactMatch MONDO:0012344 semapv:UnspecifiedMatching +OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:21205 semapv:UnspecifiedMatching +OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:LINGO1 semapv:UnspecifiedMatching +OMIM:609791 LINGO1 skos:exactMatch ncbigene:84894 semapv:UnspecifiedMatching +OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:21206 semapv:UnspecifiedMatching +OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:LINGO3 semapv:UnspecifiedMatching +OMIM:609792 LINGO3 skos:exactMatch ncbigene:645191 semapv:UnspecifiedMatching +OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:21207 semapv:UnspecifiedMatching +OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:LINGO2 semapv:UnspecifiedMatching +OMIM:609793 LINGO2 skos:exactMatch ncbigene:158038 semapv:UnspecifiedMatching +OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:31814 semapv:UnspecifiedMatching +OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:LINGO4 semapv:UnspecifiedMatching +OMIM:609794 LINGO4 skos:exactMatch ncbigene:339398 semapv:UnspecifiedMatching +OMIM:609795 QRFP skos:exactMatch hgnc.symbol:29982 semapv:UnspecifiedMatching +OMIM:609795 QRFP skos:exactMatch hgnc.symbol:QRFP semapv:UnspecifiedMatching +OMIM:609795 QRFP skos:exactMatch ncbigene:347148 semapv:UnspecifiedMatching +OMIM:609796 peeling skin syndrome 2 skos:exactMatch MONDO:0012345 semapv:UnspecifiedMatching +OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:17208 semapv:UnspecifiedMatching +OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:BICD2 semapv:UnspecifiedMatching +OMIM:609797 BICD2 skos:exactMatch ncbigene:23299 semapv:UnspecifiedMatching +OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:18591 semapv:UnspecifiedMatching +OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:NEK9 semapv:UnspecifiedMatching +OMIM:609798 NEK9 skos:exactMatch ncbigene:91754 semapv:UnspecifiedMatching +OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:13387 semapv:UnspecifiedMatching +OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:NEK8 semapv:UnspecifiedMatching +OMIM:609799 NEK8 skos:exactMatch ncbigene:284086 semapv:UnspecifiedMatching +OMIM:609800 generalized epilepsy with febrile seizures plus, iia 4 skos:exactMatch MONDO:0012346 semapv:UnspecifiedMatching +OMIM:609801 CD300E skos:exactMatch hgnc.symbol:28874 semapv:UnspecifiedMatching +OMIM:609801 CD300E skos:exactMatch hgnc.symbol:CD300E semapv:UnspecifiedMatching +OMIM:609801 CD300E skos:exactMatch ncbigene:342510 semapv:UnspecifiedMatching +OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:20611 semapv:UnspecifiedMatching +OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:SLC24A5 semapv:UnspecifiedMatching +OMIM:609802 SLC24A5 skos:exactMatch ncbigene:283652 semapv:UnspecifiedMatching +OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:26350 semapv:UnspecifiedMatching +OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:ANKAR semapv:UnspecifiedMatching +OMIM:609803 ANKAR skos:exactMatch ncbigene:150709 semapv:UnspecifiedMatching +OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:16053 semapv:UnspecifiedMatching +OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:CFAP52 semapv:UnspecifiedMatching +OMIM:609804 CFAP52 skos:exactMatch ncbigene:146845 semapv:UnspecifiedMatching +OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:30614 semapv:UnspecifiedMatching +OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:SPATA19 semapv:UnspecifiedMatching +OMIM:609805 SPATA19 skos:exactMatch ncbigene:219938 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch UMLS:C1415597 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch UMLS:C1867969 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch hgnc.symbol:4982 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch hgnc.symbol:HMBS semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch ncbigene:3145 semapv:UnspecifiedMatching +OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:29883 semapv:UnspecifiedMatching +OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:CD300LF semapv:UnspecifiedMatching +OMIM:609807 CD300LF skos:exactMatch ncbigene:146722 semapv:UnspecifiedMatching +OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous skos:exactMatch MONDO:0012347 semapv:UnspecifiedMatching +OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:26016 semapv:UnspecifiedMatching +OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:LIME1 semapv:UnspecifiedMatching +OMIM:609809 LIME1 skos:exactMatch ncbigene:54923 semapv:UnspecifiedMatching +OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:14005 semapv:UnspecifiedMatching +OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:PEG10 semapv:UnspecifiedMatching +OMIM:609810 PEG10 skos:exactMatch ncbigene:23089 semapv:UnspecifiedMatching +OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:24381 semapv:UnspecifiedMatching +OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:COX7B2 semapv:UnspecifiedMatching +OMIM:609811 COX7B2 skos:exactMatch ncbigene:170712 semapv:UnspecifiedMatching +OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction skos:exactMatch MONDO:0012348 semapv:UnspecifiedMatching +OMIM:609813 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch MONDO:0012349 semapv:UnspecifiedMatching +OMIM:609814 complement factor h deficiency skos:exactMatch MONDO:0012350 semapv:UnspecifiedMatching +OMIM:609815 zygodactyly 1 skos:exactMatch MONDO:0012351 semapv:UnspecifiedMatching +OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:20681 semapv:UnspecifiedMatching +OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:NBEAL1 semapv:UnspecifiedMatching +OMIM:609816 NBEAL1 skos:exactMatch ncbigene:65065 semapv:UnspecifiedMatching +OMIM:609817 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch MONDO:0012352 semapv:UnspecifiedMatching +OMIM:609818 USP10 skos:exactMatch hgnc.symbol:12608 semapv:UnspecifiedMatching +OMIM:609818 USP10 skos:exactMatch hgnc.symbol:USP10 semapv:UnspecifiedMatching +OMIM:609818 USP10 skos:exactMatch ncbigene:9100 semapv:UnspecifiedMatching +OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:30591 semapv:UnspecifiedMatching +OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:PRAC1 semapv:UnspecifiedMatching +OMIM:609819 PRAC1 skos:exactMatch ncbigene:84366 semapv:UnspecifiedMatching +OMIM:609820 erythrocytosis, familial, 3 skos:exactMatch MONDO:0012353 semapv:UnspecifiedMatching +OMIM:609821 bleeding disorder, platelet-type, 8 skos:exactMatch MONDO:0012354 semapv:UnspecifiedMatching +OMIM:609823 deafness, autosomal recessive 28 skos:exactMatch MONDO:0012355 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch UMLS:C1539674 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:25245 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:HORMAD1 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch ncbigene:84072 semapv:UnspecifiedMatching +OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:25223 semapv:UnspecifiedMatching +OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:COQ2 semapv:UnspecifiedMatching +OMIM:609825 COQ2 skos:exactMatch ncbigene:27235 semapv:UnspecifiedMatching +OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:20305 semapv:UnspecifiedMatching +OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:SLC34A3 semapv:UnspecifiedMatching +OMIM:609826 SLC34A3 skos:exactMatch ncbigene:142680 semapv:UnspecifiedMatching +OMIM:609827 PELI3 skos:exactMatch UMLS:C1826566 semapv:UnspecifiedMatching +OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:30010 semapv:UnspecifiedMatching +OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:PELI3 semapv:UnspecifiedMatching +OMIM:609827 PELI3 skos:exactMatch ncbigene:246330 semapv:UnspecifiedMatching +OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:13745 semapv:UnspecifiedMatching +OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:FSD1 semapv:UnspecifiedMatching +OMIM:609828 FSD1 skos:exactMatch ncbigene:79187 semapv:UnspecifiedMatching +OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:13753 semapv:UnspecifiedMatching +OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:FSD1L semapv:UnspecifiedMatching +OMIM:609829 FSD1NL skos:exactMatch ncbigene:83856 semapv:UnspecifiedMatching +OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:24525 semapv:UnspecifiedMatching +OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:MMACHC semapv:UnspecifiedMatching +OMIM:609831 MMACHC skos:exactMatch ncbigene:25974 semapv:UnspecifiedMatching +OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:25588 semapv:UnspecifiedMatching +OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:SLC47A1 semapv:UnspecifiedMatching +OMIM:609832 SLC47A1 skos:exactMatch ncbigene:55244 semapv:UnspecifiedMatching +OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:26439 semapv:UnspecifiedMatching +OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:SLC47A2 semapv:UnspecifiedMatching +OMIM:609833 SLC47A2 skos:exactMatch ncbigene:146802 semapv:UnspecifiedMatching +OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:10762 semapv:UnspecifiedMatching +OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:SETMAR semapv:UnspecifiedMatching +OMIM:609834 SETMAR skos:exactMatch ncbigene:6419 semapv:UnspecifiedMatching +OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:19677 semapv:UnspecifiedMatching +OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:MYCBPAP semapv:UnspecifiedMatching +OMIM:609835 MYCBPAP skos:exactMatch ncbigene:84073 semapv:UnspecifiedMatching +OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:24474 semapv:UnspecifiedMatching +OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:PCBD2 semapv:UnspecifiedMatching +OMIM:609836 PCBD2 skos:exactMatch ncbigene:84105 semapv:UnspecifiedMatching +OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:33020 semapv:UnspecifiedMatching +OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:SNORD115-1 semapv:UnspecifiedMatching +OMIM:609837 SNORD115-1 skos:exactMatch ncbigene:338433 semapv:UnspecifiedMatching +OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:10976 semapv:UnspecifiedMatching +OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:SLC24A2 semapv:UnspecifiedMatching +OMIM:609838 SLC24A2 skos:exactMatch ncbigene:25769 semapv:UnspecifiedMatching +OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:10977 semapv:UnspecifiedMatching +OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:SLC24A3 semapv:UnspecifiedMatching +OMIM:609839 SLC24A3 skos:exactMatch ncbigene:57419 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch UMLS:C1420149 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch UMLS:C2673866 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch UMLS:C4014578 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:10978 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:SLC24A4 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch ncbigene:123041 semapv:UnspecifiedMatching +OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:26175 semapv:UnspecifiedMatching +OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:SLC8B1 semapv:UnspecifiedMatching +OMIM:609841 SLC8B1 skos:exactMatch ncbigene:80024 semapv:UnspecifiedMatching +OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:26114 semapv:UnspecifiedMatching +OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:EDC3 semapv:UnspecifiedMatching +OMIM:609842 EDC3 skos:exactMatch ncbigene:80153 semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch UMLS:C1539226 semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:24451 semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:DCP1B semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch ncbigene:196513 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch UMLS:C1539227 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:24452 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:DCP2 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch ncbigene:167227 semapv:UnspecifiedMatching +OMIM:609845 SI skos:exactMatch hgnc.symbol:10856 semapv:UnspecifiedMatching +OMIM:609845 SI skos:exactMatch hgnc.symbol:SI semapv:UnspecifiedMatching +OMIM:609845 SI skos:exactMatch ncbigene:6476 semapv:UnspecifiedMatching +OMIM:609846 REG4 skos:exactMatch hgnc.symbol:22977 semapv:UnspecifiedMatching +OMIM:609846 REG4 skos:exactMatch hgnc.symbol:REG4 semapv:UnspecifiedMatching +OMIM:609846 REG4 skos:exactMatch ncbigene:83998 semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch UMLS:C1835953 semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:27106 semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:NOTUM semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch ncbigene:147111 semapv:UnspecifiedMatching +OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:21302 semapv:UnspecifiedMatching +OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:KCTD11 semapv:UnspecifiedMatching +OMIM:609848 KCTD11 skos:exactMatch ncbigene:147040 semapv:UnspecifiedMatching +OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:2253 semapv:UnspecifiedMatching +OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:CORO1B semapv:UnspecifiedMatching +OMIM:609849 CORO1B skos:exactMatch ncbigene:57175 semapv:UnspecifiedMatching +OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:11578 semapv:UnspecifiedMatching +OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:TBC1D1 semapv:UnspecifiedMatching +OMIM:609850 TBC1D1 skos:exactMatch ncbigene:23216 semapv:UnspecifiedMatching +OMIM:609851 IPMK skos:exactMatch hgnc.symbol:20739 semapv:UnspecifiedMatching +OMIM:609851 IPMK skos:exactMatch hgnc.symbol:IPMK semapv:UnspecifiedMatching +OMIM:609851 IPMK skos:exactMatch ncbigene:253430 semapv:UnspecifiedMatching +OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:13363 semapv:UnspecifiedMatching +OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:MIXL1 semapv:UnspecifiedMatching +OMIM:609852 MIXL1 skos:exactMatch ncbigene:83881 semapv:UnspecifiedMatching +OMIM:609853 PPCS skos:exactMatch hgnc.symbol:25686 semapv:UnspecifiedMatching +OMIM:609853 PPCS skos:exactMatch hgnc.symbol:PPCS semapv:UnspecifiedMatching +OMIM:609853 PPCS skos:exactMatch ncbigene:79717 semapv:UnspecifiedMatching +OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:28107 semapv:UnspecifiedMatching +OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:PPCDC semapv:UnspecifiedMatching +OMIM:609854 PPCDC skos:exactMatch ncbigene:60490 semapv:UnspecifiedMatching +OMIM:609855 COASY skos:exactMatch hgnc.symbol:29932 semapv:UnspecifiedMatching +OMIM:609855 COASY skos:exactMatch hgnc.symbol:COASY semapv:UnspecifiedMatching +OMIM:609855 COASY skos:exactMatch ncbigene:80347 semapv:UnspecifiedMatching +OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:29935 semapv:UnspecifiedMatching +OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:SPATA16 semapv:UnspecifiedMatching +OMIM:609856 SPATA16 skos:exactMatch ncbigene:83893 semapv:UnspecifiedMatching +OMIM:609857 DMWD skos:exactMatch hgnc.symbol:2936 semapv:UnspecifiedMatching +OMIM:609857 DMWD skos:exactMatch hgnc.symbol:DMWD semapv:UnspecifiedMatching +OMIM:609857 DMWD skos:exactMatch ncbigene:1762 semapv:UnspecifiedMatching +OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:24649 semapv:UnspecifiedMatching +OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:ETNK1 semapv:UnspecifiedMatching +OMIM:609858 ETNK1 skos:exactMatch ncbigene:55500 semapv:UnspecifiedMatching +OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:25575 semapv:UnspecifiedMatching +OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:ETNK2 semapv:UnspecifiedMatching +OMIM:609859 ETNK2 skos:exactMatch ncbigene:55224 semapv:UnspecifiedMatching +OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:18295 semapv:UnspecifiedMatching +OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:DAD1P1 semapv:UnspecifiedMatching +OMIM:609860 dad1-related gene skos:exactMatch ncbigene:56286 semapv:UnspecifiedMatching +OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:26430 semapv:UnspecifiedMatching +OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:IKBIP semapv:UnspecifiedMatching +OMIM:609861 IKBIP skos:exactMatch ncbigene:121457 semapv:UnspecifiedMatching +OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:16517 semapv:UnspecifiedMatching +OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:TMPRSS6 semapv:UnspecifiedMatching +OMIM:609862 TMPRSS6 skos:exactMatch ncbigene:164656 semapv:UnspecifiedMatching +OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:26113 semapv:UnspecifiedMatching +OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:TCTN1 semapv:UnspecifiedMatching +OMIM:609863 TCTN1 skos:exactMatch ncbigene:79600 semapv:UnspecifiedMatching +OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:25452 semapv:UnspecifiedMatching +OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:PIP4P2 semapv:UnspecifiedMatching +OMIM:609864 PIP4P2 skos:exactMatch ncbigene:55529 semapv:UnspecifiedMatching +OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:19299 semapv:UnspecifiedMatching +OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:PIP4P1 semapv:UnspecifiedMatching +OMIM:609865 PIP4P1 skos:exactMatch ncbigene:90809 semapv:UnspecifiedMatching +OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:19164 semapv:UnspecifiedMatching +OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:STARD13 semapv:UnspecifiedMatching +OMIM:609866 STARD13 skos:exactMatch ncbigene:90627 semapv:UnspecifiedMatching +OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:28110 semapv:UnspecifiedMatching +OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:UBLCP1 semapv:UnspecifiedMatching +OMIM:609867 UBLCP1 skos:exactMatch ncbigene:134510 semapv:UnspecifiedMatching +OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:20423 semapv:UnspecifiedMatching +OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:SPATA7 semapv:UnspecifiedMatching +OMIM:609868 SPATA7 skos:exactMatch ncbigene:55812 semapv:UnspecifiedMatching +OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:23221 semapv:UnspecifiedMatching +OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:SPATA12 semapv:UnspecifiedMatching +OMIM:609869 SPATA12 skos:exactMatch ncbigene:353324 semapv:UnspecifiedMatching +OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:23725 semapv:UnspecifiedMatching +OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:ARHGAP21 semapv:UnspecifiedMatching +OMIM:609870 ARHGAP21 skos:exactMatch ncbigene:57584 semapv:UnspecifiedMatching +OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:18026 semapv:UnspecifiedMatching +OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:TBC1D2 semapv:UnspecifiedMatching +OMIM:609871 TBC1D2 skos:exactMatch ncbigene:55357 semapv:UnspecifiedMatching +OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:16115 semapv:UnspecifiedMatching +OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:WFDC12 semapv:UnspecifiedMatching +OMIM:609872 WFDC12 skos:exactMatch ncbigene:128488 semapv:UnspecifiedMatching +OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:18259 semapv:UnspecifiedMatching +OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:ITLN1 semapv:UnspecifiedMatching +OMIM:609873 ITLN1 skos:exactMatch ncbigene:55600 semapv:UnspecifiedMatching +OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:20599 semapv:UnspecifiedMatching +OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:ITLN2 semapv:UnspecifiedMatching +OMIM:609874 ITLN2 skos:exactMatch ncbigene:142683 semapv:UnspecifiedMatching +OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:13907 semapv:UnspecifiedMatching +OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:ATOH7 semapv:UnspecifiedMatching +OMIM:609875 ATOH7 skos:exactMatch ncbigene:220202 semapv:UnspecifiedMatching +OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:18246 semapv:UnspecifiedMatching +OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:CRYL1 semapv:UnspecifiedMatching +OMIM:609877 CRYL1 skos:exactMatch ncbigene:51084 semapv:UnspecifiedMatching +OMIM:609878 MED9 skos:exactMatch hgnc.symbol:25487 semapv:UnspecifiedMatching +OMIM:609878 MED9 skos:exactMatch hgnc.symbol:MED9 semapv:UnspecifiedMatching +OMIM:609878 MED9 skos:exactMatch ncbigene:55090 semapv:UnspecifiedMatching +OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:17333 semapv:UnspecifiedMatching +OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:SPATA4 semapv:UnspecifiedMatching +OMIM:609879 SPATA4 skos:exactMatch ncbigene:132851 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch UMLS:C1424687 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:17016 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:KAT7 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch ncbigene:11143 semapv:UnspecifiedMatching +OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:23208 semapv:UnspecifiedMatching +OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:POLR2J2 semapv:UnspecifiedMatching +OMIM:609881 POLR2J2 skos:exactMatch ncbigene:246721 semapv:UnspecifiedMatching +OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:29535 semapv:UnspecifiedMatching +OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:MTF2 semapv:UnspecifiedMatching +OMIM:609882 MTF2 skos:exactMatch ncbigene:22823 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch UMLS:C1417186 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:7121 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:MKS1 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch ncbigene:54903 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C1823331 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C1846357 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C1853153 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C1865794 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017203 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017204 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:28396 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:TMEM67 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch ncbigene:91147 semapv:UnspecifiedMatching +OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:23113 semapv:UnspecifiedMatching +OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:ELL3 semapv:UnspecifiedMatching +OMIM:609885 ELL3 skos:exactMatch ncbigene:80237 semapv:UnspecifiedMatching +OMIM:609887 glaucoma 1, open angle, g skos:exactMatch MONDO:0012357 semapv:UnspecifiedMatching +OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch MONDO:0012358 semapv:UnspecifiedMatching +OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching +OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch UMLS:C1835932 semapv:UnspecifiedMatching +OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity skos:exactMatch MONDO:0012359 semapv:UnspecifiedMatching +OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:30313 semapv:UnspecifiedMatching +OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:UBR4 semapv:UnspecifiedMatching +OMIM:609890 UBR4 skos:exactMatch ncbigene:23352 semapv:UnspecifiedMatching +OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:21390 semapv:UnspecifiedMatching +OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:RIPPLY2 semapv:UnspecifiedMatching +OMIM:609891 RIPPLY2 skos:exactMatch ncbigene:134701 semapv:UnspecifiedMatching +OMIM:609892 RIPPLY3 skos:exactMatch UMLS:C1414167 semapv:UnspecifiedMatching +OMIM:609892 RIPPLY3 skos:exactMatch hgnc.symbol:3047 semapv:UnspecifiedMatching +OMIM:609892 RIPPLY3 skos:exactMatch hgnc.symbol:RIPPLY3 semapv:UnspecifiedMatching +OMIM:609892 RIPPLY3 skos:exactMatch ncbigene:53820 semapv:UnspecifiedMatching +OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 skos:exactMatch MONDO:0012360 semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch UMLS:C1427949 semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:23150 semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:UNC13A semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch ncbigene:23025 semapv:UnspecifiedMatching +OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:26002 semapv:UnspecifiedMatching +OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:CASZ1 semapv:UnspecifiedMatching +OMIM:609895 CASZ1 skos:exactMatch ncbigene:54897 semapv:UnspecifiedMatching +OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:31837 semapv:UnspecifiedMatching +OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:EIF4E3 semapv:UnspecifiedMatching +OMIM:609896 EIF4E3 skos:exactMatch ncbigene:317649 semapv:UnspecifiedMatching +OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:13944 semapv:UnspecifiedMatching +OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:EGFL8 semapv:UnspecifiedMatching +OMIM:609897 EGFL8 skos:exactMatch ncbigene:80864 semapv:UnspecifiedMatching +OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:17550 semapv:UnspecifiedMatching +OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:KREMEN1 semapv:UnspecifiedMatching +OMIM:609898 KREMEN1 skos:exactMatch ncbigene:83999 semapv:UnspecifiedMatching +OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:18797 semapv:UnspecifiedMatching +OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:KREMEN2 semapv:UnspecifiedMatching +OMIM:609899 KREMEN2 skos:exactMatch ncbigene:79412 semapv:UnspecifiedMatching +OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:17354 semapv:UnspecifiedMatching +OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:APOBEC3D semapv:UnspecifiedMatching +OMIM:609900 APOBEC3D skos:exactMatch ncbigene:140564 semapv:UnspecifiedMatching +OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:26795 semapv:UnspecifiedMatching +OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:ANKS4B semapv:UnspecifiedMatching +OMIM:609901 ANKS4B skos:exactMatch ncbigene:257629 semapv:UnspecifiedMatching +OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch MONDO:0012361 semapv:UnspecifiedMatching +OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:18730 semapv:UnspecifiedMatching +OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:H2BC1 semapv:UnspecifiedMatching +OMIM:609904 HIST1H2BA skos:exactMatch ncbigene:255626 semapv:UnspecifiedMatching +OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:15754 semapv:UnspecifiedMatching +OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:MYL9 semapv:UnspecifiedMatching +OMIM:609905 MYL9 skos:exactMatch ncbigene:10398 semapv:UnspecifiedMatching +OMIM:609906 EFS skos:exactMatch UMLS:C1424622 semapv:UnspecifiedMatching +OMIM:609906 EFS skos:exactMatch hgnc.symbol:16898 semapv:UnspecifiedMatching +OMIM:609906 EFS skos:exactMatch hgnc.symbol:EFS semapv:UnspecifiedMatching +OMIM:609906 EFS skos:exactMatch ncbigene:10278 semapv:UnspecifiedMatching +OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:10726 semapv:UnspecifiedMatching +OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:SEMA3D semapv:UnspecifiedMatching +OMIM:609907 SEMA3D skos:exactMatch ncbigene:223117 semapv:UnspecifiedMatching +OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:32152 semapv:UnspecifiedMatching +OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:APOBEC4 semapv:UnspecifiedMatching +OMIM:609908 APOBEC4 skos:exactMatch ncbigene:403314 semapv:UnspecifiedMatching +OMIM:609909 cardiomyopathy, dilated, 1p skos:exactMatch MONDO:0012362 semapv:UnspecifiedMatching +OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:24010 semapv:UnspecifiedMatching +OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:CFAP91 semapv:UnspecifiedMatching +OMIM:609910 CFAP91 skos:exactMatch ncbigene:89876 semapv:UnspecifiedMatching +OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:20115 semapv:UnspecifiedMatching +OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:SLC25A47 semapv:UnspecifiedMatching +OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch ncbigene:283600 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch UMLS:C1425187 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:17933 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:KAT8 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch ncbigene:84148 semapv:UnspecifiedMatching +OMIM:609913 retinitis pigmentosa 32 skos:exactMatch MONDO:0012363 semapv:UnspecifiedMatching +OMIM:609913 retinitis pigmentosa 32 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:609913 retinitis pigmentosa 32 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching +OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:19940 semapv:UnspecifiedMatching +OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:AQP11 semapv:UnspecifiedMatching +OMIM:609914 AQP11 skos:exactMatch ncbigene:282679 semapv:UnspecifiedMatching +OMIM:609915 cardiomyopathy, dilated, 1q skos:exactMatch MONDO:0012364 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch UMLS:C1538310 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:24002 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:AZI2 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch ncbigene:64343 semapv:UnspecifiedMatching +OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:17276 semapv:UnspecifiedMatching +OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:ERI3 semapv:UnspecifiedMatching +OMIM:609917 PRNPIP skos:exactMatch ncbigene:79033 semapv:UnspecifiedMatching +OMIM:609918 gallbladder disease 2 skos:exactMatch MONDO:0012365 semapv:UnspecifiedMatching +OMIM:609919 gallbladder disease 3 skos:exactMatch MONDO:0012366 semapv:UnspecifiedMatching +OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:13251 semapv:UnspecifiedMatching +OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:CDH22 semapv:UnspecifiedMatching +OMIM:609920 CDH22 skos:exactMatch ncbigene:64405 semapv:UnspecifiedMatching +OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:14553 semapv:UnspecifiedMatching +OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:LRP10 semapv:UnspecifiedMatching +OMIM:609921 LRP10 skos:exactMatch ncbigene:26020 semapv:UnspecifiedMatching +OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:29144 semapv:UnspecifiedMatching +OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:EHBP1 semapv:UnspecifiedMatching +OMIM:609922 EHBP1 skos:exactMatch ncbigene:23301 semapv:UnspecifiedMatching +OMIM:609923 retinitis pigmentosa 31 skos:exactMatch MONDO:0012367 semapv:UnspecifiedMatching +OMIM:609924 aminoacylase 1 deficiency skos:exactMatch MONDO:0012368 semapv:UnspecifiedMatching +OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:23028 semapv:UnspecifiedMatching +OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:DPEP2 semapv:UnspecifiedMatching +OMIM:609925 DPEP2 skos:exactMatch ncbigene:64174 semapv:UnspecifiedMatching +OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:23029 semapv:UnspecifiedMatching +OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:DPEP3 semapv:UnspecifiedMatching +OMIM:609926 DPEP3 skos:exactMatch ncbigene:64180 semapv:UnspecifiedMatching +OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:24928 semapv:UnspecifiedMatching +OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:VPS37A semapv:UnspecifiedMatching +OMIM:609927 VPS37A skos:exactMatch ncbigene:137492 semapv:UnspecifiedMatching +OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:15906 semapv:UnspecifiedMatching +OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:MYH7B semapv:UnspecifiedMatching +OMIM:609928 MYH7B skos:exactMatch ncbigene:57644 semapv:UnspecifiedMatching +OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:31073 semapv:UnspecifiedMatching +OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:MYH15 semapv:UnspecifiedMatching +OMIM:609929 MYH15 skos:exactMatch ncbigene:22989 semapv:UnspecifiedMatching +OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:29823 semapv:UnspecifiedMatching +OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:MYL6B semapv:UnspecifiedMatching +OMIM:609930 MYL6B skos:exactMatch ncbigene:140465 semapv:UnspecifiedMatching +OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:7587 semapv:UnspecifiedMatching +OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:MYL6 semapv:UnspecifiedMatching +OMIM:609931 MYL6 skos:exactMatch ncbigene:4637 semapv:UnspecifiedMatching +OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:16441 semapv:UnspecifiedMatching +OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:SPACA4 semapv:UnspecifiedMatching +OMIM:609932 SPACA4 skos:exactMatch ncbigene:171169 semapv:UnspecifiedMatching +OMIM:609933 REG3G skos:exactMatch hgnc.symbol:29595 semapv:UnspecifiedMatching +OMIM:609933 REG3G skos:exactMatch hgnc.symbol:REG3G semapv:UnspecifiedMatching +OMIM:609933 REG3G skos:exactMatch ncbigene:130120 semapv:UnspecifiedMatching +OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:19090 semapv:UnspecifiedMatching +OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:EBF2 semapv:UnspecifiedMatching +OMIM:609934 EBF2 skos:exactMatch ncbigene:64641 semapv:UnspecifiedMatching +OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:29278 semapv:UnspecifiedMatching +OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:EBF4 semapv:UnspecifiedMatching +OMIM:609935 EBF4 skos:exactMatch ncbigene:57593 semapv:UnspecifiedMatching +OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:11243 semapv:UnspecifiedMatching +OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:SPIN1 semapv:UnspecifiedMatching +OMIM:609936 SPIN1 skos:exactMatch ncbigene:10927 semapv:UnspecifiedMatching +OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:14628 semapv:UnspecifiedMatching +OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:CDCA7 semapv:UnspecifiedMatching +OMIM:609937 CDCA7 skos:exactMatch ncbigene:83879 semapv:UnspecifiedMatching +OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:29849 semapv:UnspecifiedMatching +OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:CADM2 semapv:UnspecifiedMatching +OMIM:609938 CADM2 skos:exactMatch ncbigene:253559 semapv:UnspecifiedMatching +OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch MONDO:0012369 semapv:UnspecifiedMatching +OMIM:609941 deafness, autosomal recessive 51 skos:exactMatch MONDO:0012370 semapv:UnspecifiedMatching +OMIM:609942 noonan syndrome 3 skos:exactMatch MONDO:0012371 semapv:UnspecifiedMatching +OMIM:609942 noonan syndrome 3 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:609942 noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching +OMIM:609944 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch MONDO:0012373 semapv:UnspecifiedMatching +OMIM:609945 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch MONDO:0012374 semapv:UnspecifiedMatching +OMIM:609946 deafness, autosomal recessive 47 skos:exactMatch MONDO:0012375 semapv:UnspecifiedMatching +OMIM:609947 PRORP skos:exactMatch hgnc.symbol:19958 semapv:UnspecifiedMatching +OMIM:609947 PRORP skos:exactMatch hgnc.symbol:PRORP semapv:UnspecifiedMatching +OMIM:609947 PRORP skos:exactMatch ncbigene:9692 semapv:UnspecifiedMatching +OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:21698 semapv:UnspecifiedMatching +OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:RNF216 semapv:UnspecifiedMatching +OMIM:609948 RNF216 skos:exactMatch ncbigene:54476 semapv:UnspecifiedMatching +OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:4527 semapv:UnspecifiedMatching +OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:C5AR2 semapv:UnspecifiedMatching +OMIM:609949 C5AR2 skos:exactMatch ncbigene:27202 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch UMLS:C1826769 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:30296 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:RAVER1 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch ncbigene:125950 semapv:UnspecifiedMatching +OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:11955 semapv:UnspecifiedMatching +OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:ZNF384 semapv:UnspecifiedMatching +OMIM:609951 ZNF384 skos:exactMatch ncbigene:171017 semapv:UnspecifiedMatching +OMIM:609952 deafness, autosomal recessive 55 skos:exactMatch MONDO:0012376 semapv:UnspecifiedMatching +OMIM:609953 RAVER2 skos:exactMatch UMLS:C1826770 semapv:UnspecifiedMatching +OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:25577 semapv:UnspecifiedMatching +OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:RAVER2 semapv:UnspecifiedMatching +OMIM:609953 RAVER2 skos:exactMatch ncbigene:55225 semapv:UnspecifiedMatching +OMIM:609954 asperger syndrome, susceptibility to, 4 skos:exactMatch MONDO:0012377 semapv:UnspecifiedMatching +OMIM:609955 fibromatosis, gingival, 3 skos:exactMatch MONDO:0012378 semapv:UnspecifiedMatching +OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:30268 semapv:UnspecifiedMatching +OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:RAB37 semapv:UnspecifiedMatching +OMIM:609956 RAB37 skos:exactMatch ncbigene:326624 semapv:UnspecifiedMatching +OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:20785 semapv:UnspecifiedMatching +OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:PPM1J semapv:UnspecifiedMatching +OMIM:609957 PPM1J skos:exactMatch ncbigene:333926 semapv:UnspecifiedMatching +OMIM:609958 asthma-related traits, susceptibility to, 3 skos:exactMatch MONDO:0012379 semapv:UnspecifiedMatching +OMIM:609959 MYADM skos:exactMatch hgnc.symbol:7544 semapv:UnspecifiedMatching +OMIM:609959 MYADM skos:exactMatch hgnc.symbol:MYADM semapv:UnspecifiedMatching +OMIM:609959 MYADM skos:exactMatch ncbigene:91663 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch UMLS:C1428887 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:29676 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:PUM3 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch ncbigene:9933 semapv:UnspecifiedMatching +OMIM:609961 HMHB1 skos:exactMatch UMLS:C1825517 semapv:UnspecifiedMatching +OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:29677 semapv:UnspecifiedMatching +OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:HMHB1 semapv:UnspecifiedMatching +OMIM:609961 HMHB1 skos:exactMatch ncbigene:57824 semapv:UnspecifiedMatching +OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:14555 semapv:UnspecifiedMatching +OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:CLEC4E semapv:UnspecifiedMatching +OMIM:609962 CLEC4E skos:exactMatch ncbigene:26253 semapv:UnspecifiedMatching +OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:24293 semapv:UnspecifiedMatching +OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:CHSY3 semapv:UnspecifiedMatching +OMIM:609963 CHSY3 skos:exactMatch ncbigene:337876 semapv:UnspecifiedMatching +OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:14554 semapv:UnspecifiedMatching +OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:CLEC4D semapv:UnspecifiedMatching +OMIM:609964 CLEC4D skos:exactMatch ncbigene:338339 semapv:UnspecifiedMatching +OMIM:609965 deafness, autosomal dominant 53 skos:exactMatch MONDO:0012380 semapv:UnspecifiedMatching +OMIM:609966 GGN skos:exactMatch hgnc.symbol:18869 semapv:UnspecifiedMatching +OMIM:609966 GGN skos:exactMatch hgnc.symbol:GGN semapv:UnspecifiedMatching +OMIM:609966 GGN skos:exactMatch ncbigene:199720 semapv:UnspecifiedMatching +OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:24130 semapv:UnspecifiedMatching +OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:NIBAN3 semapv:UnspecifiedMatching +OMIM:609967 b-cell novel protein 1 skos:exactMatch ncbigene:199786 semapv:UnspecifiedMatching +OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 skos:exactMatch MONDO:0012381 semapv:UnspecifiedMatching +OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:24950 semapv:UnspecifiedMatching +OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:SBSN semapv:UnspecifiedMatching +OMIM:609969 suprabasin skos:exactMatch ncbigene:374897 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch UMLS:C1539666 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch hgnc.symbol:16005 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch hgnc.symbol:HES2 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch ncbigene:54626 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch UMLS:C1825461 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch hgnc.symbol:26226 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch hgnc.symbol:HES3 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch ncbigene:390992 semapv:UnspecifiedMatching +OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:18431 semapv:UnspecifiedMatching +OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:ACOT2 semapv:UnspecifiedMatching +OMIM:609972 ACOT2 skos:exactMatch ncbigene:10965 semapv:UnspecifiedMatching +OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:19183 semapv:UnspecifiedMatching +OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:HCN3 semapv:UnspecifiedMatching +OMIM:609973 HCN3 skos:exactMatch ncbigene:57657 semapv:UnspecifiedMatching +OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:1768 semapv:UnspecifiedMatching +OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:CDH9 semapv:UnspecifiedMatching +OMIM:609974 CDH9 skos:exactMatch ncbigene:1007 semapv:UnspecifiedMatching +OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch MONDO:0012382 semapv:UnspecifiedMatching +OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:15825 semapv:UnspecifiedMatching +OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:HIF3A semapv:UnspecifiedMatching +OMIM:609976 HIF3A skos:exactMatch ncbigene:64344 semapv:UnspecifiedMatching +OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:14629 semapv:UnspecifiedMatching +OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:CDCA8 semapv:UnspecifiedMatching +OMIM:609977 CDCA8 skos:exactMatch ncbigene:55143 semapv:UnspecifiedMatching +OMIM:609978 CADPS2 skos:exactMatch hgnc.symbol:16018 semapv:UnspecifiedMatching +OMIM:609978 CADPS2 skos:exactMatch hgnc.symbol:CADPS2 semapv:UnspecifiedMatching +OMIM:609978 CADPS2 skos:exactMatch ncbigene:93664 semapv:UnspecifiedMatching +OMIM:609979 VGLL2 skos:exactMatch hgnc.symbol:20232 semapv:UnspecifiedMatching +OMIM:609979 VGLL2 skos:exactMatch hgnc.symbol:VGLL2 semapv:UnspecifiedMatching +OMIM:609979 VGLL2 skos:exactMatch ncbigene:245806 semapv:UnspecifiedMatching +OMIM:609980 VGLL3 skos:exactMatch hgnc.symbol:24327 semapv:UnspecifiedMatching +OMIM:609980 VGLL3 skos:exactMatch hgnc.symbol:VGLL3 semapv:UnspecifiedMatching +OMIM:609980 VGLL3 skos:exactMatch ncbigene:389136 semapv:UnspecifiedMatching +OMIM:609981 immunodeficiency 54 skos:exactMatch MONDO:0012383 semapv:UnspecifiedMatching +OMIM:609982 VPS4A skos:exactMatch hgnc.symbol:13488 semapv:UnspecifiedMatching +OMIM:609982 VPS4A skos:exactMatch hgnc.symbol:VPS4A semapv:UnspecifiedMatching +OMIM:609982 VPS4A skos:exactMatch ncbigene:27183 semapv:UnspecifiedMatching +OMIM:609983 VPS4B skos:exactMatch hgnc.symbol:10895 semapv:UnspecifiedMatching +OMIM:609983 VPS4B skos:exactMatch hgnc.symbol:VPS4B semapv:UnspecifiedMatching +OMIM:609983 VPS4B skos:exactMatch ncbigene:9525 semapv:UnspecifiedMatching +OMIM:609984 ZWILCH skos:exactMatch UMLS:C1824085 semapv:UnspecifiedMatching +OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:25468 semapv:UnspecifiedMatching +OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:ZWILCH semapv:UnspecifiedMatching +OMIM:609984 ZWILCH skos:exactMatch ncbigene:55055 semapv:UnspecifiedMatching +OMIM:609985 panic disorder 3 skos:exactMatch MONDO:0012384 semapv:UnspecifiedMatching +OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:16394 semapv:UnspecifiedMatching +OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:CARD6 semapv:UnspecifiedMatching +OMIM:609986 CARD6 skos:exactMatch ncbigene:84674 semapv:UnspecifiedMatching +OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:30653 semapv:UnspecifiedMatching +OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:STRA8 semapv:UnspecifiedMatching +OMIM:609987 STRA8 skos:exactMatch ncbigene:346673 semapv:UnspecifiedMatching +OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:28883 semapv:UnspecifiedMatching +OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:PPA2 semapv:UnspecifiedMatching +OMIM:609988 PPA2 skos:exactMatch ncbigene:27068 semapv:UnspecifiedMatching +OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch MONDO:0012385 semapv:UnspecifiedMatching +OMIM:609990 trichoscyphodysplasia skos:exactMatch MONDO:0012386 semapv:UnspecifiedMatching +OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:21184 semapv:UnspecifiedMatching +OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:FNDC1 semapv:UnspecifiedMatching +OMIM:609991 FNDC1 skos:exactMatch ncbigene:84624 semapv:UnspecifiedMatching +OMIM:609992 POP5 skos:exactMatch UMLS:C1425038 semapv:UnspecifiedMatching +OMIM:609992 POP5 skos:exactMatch hgnc.symbol:17689 semapv:UnspecifiedMatching +OMIM:609992 POP5 skos:exactMatch hgnc.symbol:POP5 semapv:UnspecifiedMatching +OMIM:609992 POP5 skos:exactMatch ncbigene:51367 semapv:UnspecifiedMatching +OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure skos:exactMatch MONDO:0012387 semapv:UnspecifiedMatching +OMIM:609994 myopia 11, autosomal dominant skos:exactMatch MONDO:0012388 semapv:UnspecifiedMatching +OMIM:609995 myopia 12, autosomal dominant skos:exactMatch MONDO:0012389 semapv:UnspecifiedMatching +OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:22442 semapv:UnspecifiedMatching +OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:COL28A1 semapv:UnspecifiedMatching +OMIM:609996 COL28A1 skos:exactMatch ncbigene:340267 semapv:UnspecifiedMatching +OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:18344 semapv:UnspecifiedMatching +OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:HINT2 semapv:UnspecifiedMatching +OMIM:609997 HINT2 skos:exactMatch ncbigene:84681 semapv:UnspecifiedMatching +OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:18468 semapv:UnspecifiedMatching +OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:HINT3 semapv:UnspecifiedMatching +OMIM:609998 HINT3 skos:exactMatch ncbigene:135114 semapv:UnspecifiedMatching +OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:32388 semapv:UnspecifiedMatching +OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:SYNDIG1L semapv:UnspecifiedMatching +OMIM:609999 SYNDIG1L skos:exactMatch ncbigene:646658 semapv:UnspecifiedMatching +OMIM:610000 CEP55 skos:exactMatch hgnc.symbol:1161 semapv:UnspecifiedMatching +OMIM:610000 CEP55 skos:exactMatch hgnc.symbol:CEP55 semapv:UnspecifiedMatching +OMIM:610000 CEP55 skos:exactMatch ncbigene:55165 semapv:UnspecifiedMatching +OMIM:610001 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch MONDO:0012390 semapv:UnspecifiedMatching +OMIM:610002 COL21A1 skos:exactMatch hgnc.symbol:17025 semapv:UnspecifiedMatching +OMIM:610002 COL21A1 skos:exactMatch hgnc.symbol:COL21A1 semapv:UnspecifiedMatching +OMIM:610002 COL21A1 skos:exactMatch ncbigene:81578 semapv:UnspecifiedMatching +OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch MONDO:0012391 semapv:UnspecifiedMatching +OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch Orphanet:1947 semapv:UnspecifiedMatching +OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching +OMIM:610004 COL25A1 skos:exactMatch hgnc.symbol:18603 semapv:UnspecifiedMatching +OMIM:610004 COL25A1 skos:exactMatch hgnc.symbol:COL25A1 semapv:UnspecifiedMatching +OMIM:610004 COL25A1 skos:exactMatch ncbigene:84570 semapv:UnspecifiedMatching +OMIM:610005 TNIK skos:exactMatch hgnc.symbol:30765 semapv:UnspecifiedMatching +OMIM:610005 TNIK skos:exactMatch hgnc.symbol:TNIK semapv:UnspecifiedMatching +OMIM:610005 TNIK skos:exactMatch ncbigene:23043 semapv:UnspecifiedMatching +OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch MONDO:0012392 semapv:UnspecifiedMatching +OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch Orphanet:79157 semapv:UnspecifiedMatching +OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching +OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:18268 semapv:UnspecifiedMatching +OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:LMBR1L semapv:UnspecifiedMatching +OMIM:610007 LMBR1L skos:exactMatch ncbigene:55716 semapv:UnspecifiedMatching +OMIM:610008 ARSG skos:exactMatch hgnc.symbol:24102 semapv:UnspecifiedMatching +OMIM:610008 ARSG skos:exactMatch hgnc.symbol:ARSG semapv:UnspecifiedMatching +OMIM:610008 ARSG skos:exactMatch ncbigene:22901 semapv:UnspecifiedMatching +OMIM:610009 ARSI skos:exactMatch hgnc.symbol:32521 semapv:UnspecifiedMatching +OMIM:610009 ARSI skos:exactMatch hgnc.symbol:ARSI semapv:UnspecifiedMatching +OMIM:610009 ARSI skos:exactMatch ncbigene:340075 semapv:UnspecifiedMatching +OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:26286 semapv:UnspecifiedMatching +OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:ARSJ semapv:UnspecifiedMatching +OMIM:610010 ARSJ skos:exactMatch ncbigene:79642 semapv:UnspecifiedMatching +OMIM:610011 ARSK skos:exactMatch hgnc.symbol:25239 semapv:UnspecifiedMatching +OMIM:610011 ARSK skos:exactMatch hgnc.symbol:ARSK semapv:UnspecifiedMatching +OMIM:610011 ARSK skos:exactMatch ncbigene:153642 semapv:UnspecifiedMatching +OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:20391 semapv:UnspecifiedMatching +OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:SULF1 semapv:UnspecifiedMatching +OMIM:610012 SULF1 skos:exactMatch ncbigene:23213 semapv:UnspecifiedMatching +OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:20392 semapv:UnspecifiedMatching +OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:SULF2 semapv:UnspecifiedMatching +OMIM:610013 SULF2 skos:exactMatch ncbigene:55959 semapv:UnspecifiedMatching +OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:24128 semapv:UnspecifiedMatching +OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:TM2D3 semapv:UnspecifiedMatching +OMIM:610014 TM2D3 skos:exactMatch ncbigene:80213 semapv:UnspecifiedMatching +OMIM:610015 glutamine deficiency, congenital skos:exactMatch MONDO:0012393 semapv:UnspecifiedMatching +OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:31516 semapv:UnspecifiedMatching +OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:MIR132 semapv:UnspecifiedMatching +OMIM:610016 MIR132 skos:exactMatch ncbigene:406921 semapv:UnspecifiedMatching +OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch MONDO:0012394 semapv:UnspecifiedMatching +OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching +OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching +OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:25516 semapv:UnspecifiedMatching +OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:ARHGEF40 semapv:UnspecifiedMatching +OMIM:610018 ARHGEF40 skos:exactMatch ncbigene:55701 semapv:UnspecifiedMatching +OMIM:610019 cataract 18 skos:exactMatch MONDO:0012395 semapv:UnspecifiedMatching +OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:23609 semapv:UnspecifiedMatching +OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:TBC1D10A semapv:UnspecifiedMatching +OMIM:610020 TBC1D10A skos:exactMatch ncbigene:83874 semapv:UnspecifiedMatching +OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch MONDO:0012396 semapv:UnspecifiedMatching +OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching +OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching +OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:7604 semapv:UnspecifiedMatching +OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:MYO5C semapv:UnspecifiedMatching +OMIM:610022 MYO5C skos:exactMatch ncbigene:55930 semapv:UnspecifiedMatching +OMIM:610023 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch MONDO:0012397 semapv:UnspecifiedMatching +OMIM:610024 retinal cone dystrophy 3a skos:exactMatch MONDO:0012398 semapv:UnspecifiedMatching +OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:20821 semapv:UnspecifiedMatching +OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:COL24A1 semapv:UnspecifiedMatching +OMIM:610025 COL24A1 skos:exactMatch ncbigene:255631 semapv:UnspecifiedMatching +OMIM:610026 COL22A1 skos:exactMatch hgnc.symbol:22989 semapv:UnspecifiedMatching +OMIM:610026 COL22A1 skos:exactMatch hgnc.symbol:COL22A1 semapv:UnspecifiedMatching +OMIM:610026 COL22A1 skos:exactMatch ncbigene:169044 semapv:UnspecifiedMatching +OMIM:610027 VPS26B skos:exactMatch hgnc.symbol:28119 semapv:UnspecifiedMatching +OMIM:610027 VPS26B skos:exactMatch hgnc.symbol:VPS26B semapv:UnspecifiedMatching +OMIM:610027 VPS26B skos:exactMatch ncbigene:112936 semapv:UnspecifiedMatching +OMIM:610028 PARP14 skos:exactMatch hgnc.symbol:29232 semapv:UnspecifiedMatching +OMIM:610028 PARP14 skos:exactMatch hgnc.symbol:PARP14 semapv:UnspecifiedMatching +OMIM:610028 PARP14 skos:exactMatch ncbigene:54625 semapv:UnspecifiedMatching +OMIM:610029 VDAC3 skos:exactMatch hgnc.symbol:12674 semapv:UnspecifiedMatching +OMIM:610029 VDAC3 skos:exactMatch hgnc.symbol:VDAC3 semapv:UnspecifiedMatching +OMIM:610029 VDAC3 skos:exactMatch ncbigene:7419 semapv:UnspecifiedMatching +OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc.symbol:12675 semapv:UnspecifiedMatching +OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc.symbol:VDAC1P4 semapv:UnspecifiedMatching +OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 skos:exactMatch MONDO:0012399 semapv:UnspecifiedMatching +OMIM:610032 TNPO3 skos:exactMatch hgnc.symbol:17103 semapv:UnspecifiedMatching +OMIM:610032 TNPO3 skos:exactMatch hgnc.symbol:TNPO3 semapv:UnspecifiedMatching +OMIM:610032 TNPO3 skos:exactMatch ncbigene:23534 semapv:UnspecifiedMatching +OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:30009 semapv:UnspecifiedMatching +OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:PEF1 semapv:UnspecifiedMatching +OMIM:610033 PEF1 skos:exactMatch ncbigene:553115 semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch UMLS:C1425364 semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:18179 semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:VPS33A semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch ncbigene:65082 semapv:UnspecifiedMatching +OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:14579 semapv:UnspecifiedMatching +OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:VPS45 semapv:UnspecifiedMatching +OMIM:610035 VPS45 skos:exactMatch ncbigene:11311 semapv:UnspecifiedMatching +OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:2040 semapv:UnspecifiedMatching +OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:CLDN19 semapv:UnspecifiedMatching +OMIM:610036 CLDN19 skos:exactMatch ncbigene:149461 semapv:UnspecifiedMatching +OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:25754 semapv:UnspecifiedMatching +OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:VPS37B semapv:UnspecifiedMatching +OMIM:610037 VPS37B skos:exactMatch ncbigene:79720 semapv:UnspecifiedMatching +OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:26097 semapv:UnspecifiedMatching +OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:VPS37C semapv:UnspecifiedMatching +OMIM:610038 VPS37C skos:exactMatch ncbigene:55048 semapv:UnspecifiedMatching +OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:18287 semapv:UnspecifiedMatching +OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:VPS37D semapv:UnspecifiedMatching +OMIM:610039 VPS37D skos:exactMatch ncbigene:155382 semapv:UnspecifiedMatching +OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:15576 semapv:UnspecifiedMatching +OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:MYO3B semapv:UnspecifiedMatching +OMIM:610040 MYO3B skos:exactMatch ncbigene:140469 semapv:UnspecifiedMatching +OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:18537 semapv:UnspecifiedMatching +OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:NDFIP2 semapv:UnspecifiedMatching +OMIM:610041 NDFIP2 skos:exactMatch ncbigene:54602 semapv:UnspecifiedMatching +OMIM:610042 pitt-hopkins-like syndrome 1 skos:exactMatch MONDO:0012400 semapv:UnspecifiedMatching +OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:22990 semapv:UnspecifiedMatching +OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:COL23A1 semapv:UnspecifiedMatching +OMIM:610043 COL23A1 skos:exactMatch ncbigene:91522 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch UMLS:C1425837 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:18866 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:KCNT2 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch ncbigene:343450 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C1412339 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:408 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:ALDH5A1 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch ncbigene:7915 semapv:UnspecifiedMatching +OMIM:610046 LVRN skos:exactMatch hgnc.symbol:26904 semapv:UnspecifiedMatching +OMIM:610046 LVRN skos:exactMatch hgnc.symbol:LVRN semapv:UnspecifiedMatching +OMIM:610046 LVRN skos:exactMatch ncbigene:206338 semapv:UnspecifiedMatching +OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:28631 semapv:UnspecifiedMatching +OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:CNPY4 semapv:UnspecifiedMatching +OMIM:610047 CNPY4 skos:exactMatch ncbigene:245812 semapv:UnspecifiedMatching +OMIM:610048 corneal dystrophy, congenital stromal skos:exactMatch MONDO:0012401 semapv:UnspecifiedMatching +OMIM:610049 SARNP skos:exactMatch hgnc.symbol:24432 semapv:UnspecifiedMatching +OMIM:610049 SARNP skos:exactMatch hgnc.symbol:SARNP semapv:UnspecifiedMatching +OMIM:610049 SARNP skos:exactMatch ncbigene:84324 semapv:UnspecifiedMatching +OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:29808 semapv:UnspecifiedMatching +OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:TMPRSS13 semapv:UnspecifiedMatching +OMIM:610050 TMPRSS13 skos:exactMatch ncbigene:84000 semapv:UnspecifiedMatching +OMIM:610051 CHMP4A skos:exactMatch UMLS:C1538457 semapv:UnspecifiedMatching +OMIM:610051 CHMP4A skos:exactMatch hgnc.symbol:20274 semapv:UnspecifiedMatching +OMIM:610051 CHMP4A skos:exactMatch hgnc.symbol:CHMP4A semapv:UnspecifiedMatching +OMIM:610051 CHMP4A skos:exactMatch ncbigene:29082 semapv:UnspecifiedMatching +OMIM:610052 CHMP3 skos:exactMatch hgnc.symbol:29865 semapv:UnspecifiedMatching +OMIM:610052 CHMP3 skos:exactMatch hgnc.symbol:CHMP3 semapv:UnspecifiedMatching +OMIM:610052 CHMP3 skos:exactMatch ncbigene:51652 semapv:UnspecifiedMatching +OMIM:610053 TUBGCP6 skos:exactMatch hgnc.symbol:18127 semapv:UnspecifiedMatching +OMIM:610053 TUBGCP6 skos:exactMatch hgnc.symbol:TUBGCP6 semapv:UnspecifiedMatching +OMIM:610053 TUBGCP6 skos:exactMatch ncbigene:85378 semapv:UnspecifiedMatching +OMIM:610054 MACROH2A1 skos:exactMatch hgnc.symbol:4740 semapv:UnspecifiedMatching +OMIM:610054 MACROH2A1 skos:exactMatch hgnc.symbol:MACROH2A1 semapv:UnspecifiedMatching +OMIM:610054 MACROH2A1 skos:exactMatch ncbigene:9555 semapv:UnspecifiedMatching +OMIM:610055 CC2D1A skos:exactMatch hgnc.symbol:30237 semapv:UnspecifiedMatching +OMIM:610055 CC2D1A skos:exactMatch hgnc.symbol:CC2D1A semapv:UnspecifiedMatching +OMIM:610055 CC2D1A skos:exactMatch ncbigene:54862 semapv:UnspecifiedMatching +OMIM:610056 SPAG7 skos:exactMatch hgnc.symbol:11216 semapv:UnspecifiedMatching +OMIM:610056 SPAG7 skos:exactMatch hgnc.symbol:SPAG7 semapv:UnspecifiedMatching +OMIM:610056 SPAG7 skos:exactMatch ncbigene:9552 semapv:UnspecifiedMatching +OMIM:610057 TECR skos:exactMatch hgnc.symbol:4551 semapv:UnspecifiedMatching +OMIM:610057 TECR skos:exactMatch hgnc.symbol:TECR semapv:UnspecifiedMatching +OMIM:610057 TECR skos:exactMatch ncbigene:9524 semapv:UnspecifiedMatching +OMIM:610058 TBCA skos:exactMatch hgnc.symbol:11579 semapv:UnspecifiedMatching +OMIM:610058 TBCA skos:exactMatch hgnc.symbol:TBCA semapv:UnspecifiedMatching +OMIM:610058 TBCA skos:exactMatch ncbigene:6902 semapv:UnspecifiedMatching +OMIM:610059 MRPL33 skos:exactMatch hgnc.symbol:14487 semapv:UnspecifiedMatching +OMIM:610059 MRPL33 skos:exactMatch hgnc.symbol:MRPL33 semapv:UnspecifiedMatching +OMIM:610059 MRPL33 skos:exactMatch ncbigene:9553 semapv:UnspecifiedMatching +OMIM:610060 POLR1C skos:exactMatch hgnc.symbol:20194 semapv:UnspecifiedMatching +OMIM:610060 POLR1C skos:exactMatch hgnc.symbol:POLR1C semapv:UnspecifiedMatching +OMIM:610060 POLR1C skos:exactMatch ncbigene:9533 semapv:UnspecifiedMatching +OMIM:610061 DNAH7 skos:exactMatch hgnc.symbol:18661 semapv:UnspecifiedMatching +OMIM:610061 DNAH7 skos:exactMatch hgnc.symbol:DNAH7 semapv:UnspecifiedMatching +OMIM:610061 DNAH7 skos:exactMatch ncbigene:56171 semapv:UnspecifiedMatching +OMIM:610062 DNAL1 skos:exactMatch hgnc.symbol:23247 semapv:UnspecifiedMatching +OMIM:610062 DNAL1 skos:exactMatch hgnc.symbol:DNAL1 semapv:UnspecifiedMatching +OMIM:610062 DNAL1 skos:exactMatch ncbigene:83544 semapv:UnspecifiedMatching +OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:2946 semapv:UnspecifiedMatching +OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:DNAH17 semapv:UnspecifiedMatching +OMIM:610063 DNAH17 skos:exactMatch ncbigene:8632 semapv:UnspecifiedMatching +OMIM:610064 opioid dependence, susceptibility to, 1 skos:exactMatch MONDO:0012402 semapv:UnspecifiedMatching +OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch MONDO:0012403 semapv:UnspecifiedMatching +OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch MONDO:0012404 semapv:UnspecifiedMatching +OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching +OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching +OMIM:610067 MYO18A skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching +OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc.symbol:14472 semapv:UnspecifiedMatching +OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc.symbol:SLC26A6 semapv:UnspecifiedMatching +OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch ncbigene:65010 semapv:UnspecifiedMatching +OMIM:610069 polyposis syndrome, hereditary mixed, 2 skos:exactMatch MONDO:0012405 semapv:UnspecifiedMatching +OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:26118 semapv:UnspecifiedMatching +OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:MAP9 semapv:UnspecifiedMatching +OMIM:610070 aster-associated protein skos:exactMatch ncbigene:79884 semapv:UnspecifiedMatching +OMIM:610071 hyperparathyroidism 3 skos:exactMatch MONDO:0012406 semapv:UnspecifiedMatching +OMIM:610072 ERMN skos:exactMatch hgnc.symbol:29208 semapv:UnspecifiedMatching +OMIM:610072 ERMN skos:exactMatch hgnc.symbol:ERMN semapv:UnspecifiedMatching +OMIM:610072 ERMN skos:exactMatch ncbigene:57471 semapv:UnspecifiedMatching +OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:16036 semapv:UnspecifiedMatching +OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:ORMDL1 semapv:UnspecifiedMatching +OMIM:610073 ORMDL1 skos:exactMatch ncbigene:94101 semapv:UnspecifiedMatching +OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:16037 semapv:UnspecifiedMatching +OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:ORMDL2 semapv:UnspecifiedMatching +OMIM:610074 ORMDL2 skos:exactMatch ncbigene:29095 semapv:UnspecifiedMatching +OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:16038 semapv:UnspecifiedMatching +OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:ORMDL3 semapv:UnspecifiedMatching +OMIM:610075 ORMDL3 skos:exactMatch ncbigene:94103 semapv:UnspecifiedMatching +OMIM:610076 CDK20 skos:exactMatch hgnc.symbol:21420 semapv:UnspecifiedMatching +OMIM:610076 CDK20 skos:exactMatch hgnc.symbol:CDK20 semapv:UnspecifiedMatching +OMIM:610076 CDK20 skos:exactMatch ncbigene:23552 semapv:UnspecifiedMatching +OMIM:610077 RGCC skos:exactMatch hgnc.symbol:20369 semapv:UnspecifiedMatching +OMIM:610077 RGCC skos:exactMatch hgnc.symbol:RGCC semapv:UnspecifiedMatching +OMIM:610077 RGCC skos:exactMatch ncbigene:28984 semapv:UnspecifiedMatching +OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:23572 semapv:UnspecifiedMatching +OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:MORC3 semapv:UnspecifiedMatching +OMIM:610078 MORC3 skos:exactMatch ncbigene:23515 semapv:UnspecifiedMatching +OMIM:610079 SIAE skos:exactMatch hgnc.symbol:18187 semapv:UnspecifiedMatching +OMIM:610079 SIAE skos:exactMatch hgnc.symbol:SIAE semapv:UnspecifiedMatching +OMIM:610079 SIAE skos:exactMatch ncbigene:54414 semapv:UnspecifiedMatching +OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:24142 semapv:UnspecifiedMatching +OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:TM2D1 semapv:UnspecifiedMatching +OMIM:610080 TM2D1 skos:exactMatch ncbigene:83941 semapv:UnspecifiedMatching +OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:24127 semapv:UnspecifiedMatching +OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:TM2D2 semapv:UnspecifiedMatching +OMIM:610081 TM2D2 skos:exactMatch ncbigene:83877 semapv:UnspecifiedMatching +OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:21155 semapv:UnspecifiedMatching +OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:MYLIP semapv:UnspecifiedMatching +OMIM:610082 MYLIP skos:exactMatch ncbigene:29116 semapv:UnspecifiedMatching +OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:29944 semapv:UnspecifiedMatching +OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:TENM3 semapv:UnspecifiedMatching +OMIM:610083 TENM3 skos:exactMatch ncbigene:55714 semapv:UnspecifiedMatching +OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:29945 semapv:UnspecifiedMatching +OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:TENM4 semapv:UnspecifiedMatching +OMIM:610084 TENM4 skos:exactMatch ncbigene:26011 semapv:UnspecifiedMatching +OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:15549 semapv:UnspecifiedMatching +OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:FAM167A semapv:UnspecifiedMatching +OMIM:610085 FAM167A skos:exactMatch ncbigene:83648 semapv:UnspecifiedMatching +OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:5188 semapv:UnspecifiedMatching +OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:PRMT8 semapv:UnspecifiedMatching +OMIM:610086 PRMT8 skos:exactMatch ncbigene:56341 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch UMLS:C1826702 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:25557 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:PRMT7 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch ncbigene:54496 semapv:UnspecifiedMatching +OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:24956 semapv:UnspecifiedMatching +OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:OLFML3 semapv:UnspecifiedMatching +OMIM:610088 OLFML3 skos:exactMatch ncbigene:56944 semapv:UnspecifiedMatching +OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:21876 semapv:UnspecifiedMatching +OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:RINT1 semapv:UnspecifiedMatching +OMIM:610089 RINT1 skos:exactMatch ncbigene:60561 semapv:UnspecifiedMatching +OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency skos:exactMatch MONDO:0012407 semapv:UnspecifiedMatching +OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:19221 semapv:UnspecifiedMatching +OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:WSB1 semapv:UnspecifiedMatching +OMIM:610091 WSB1 skos:exactMatch ncbigene:26118 semapv:UnspecifiedMatching +OMIM:610092 microphthalmia, isolated, with coloboma 3 skos:exactMatch MONDO:0012408 semapv:UnspecifiedMatching +OMIM:610093 microphthalmia, isolated 2 skos:exactMatch MONDO:0012409 semapv:UnspecifiedMatching +OMIM:610094 DEF6 skos:exactMatch UMLS:C1413972 semapv:UnspecifiedMatching +OMIM:610094 DEF6 skos:exactMatch hgnc.symbol:2760 semapv:UnspecifiedMatching +OMIM:610094 DEF6 skos:exactMatch hgnc.symbol:DEF6 semapv:UnspecifiedMatching +OMIM:610094 DEF6 skos:exactMatch ncbigene:50619 semapv:UnspecifiedMatching +OMIM:610095 KIR3DL3 skos:exactMatch hgnc.symbol:16312 semapv:UnspecifiedMatching +OMIM:610095 KIR3DL3 skos:exactMatch hgnc.symbol:KIR3DL3 semapv:UnspecifiedMatching +OMIM:610095 KIR3DL3 skos:exactMatch ncbigene:115653 semapv:UnspecifiedMatching +OMIM:610096 TIMD4 skos:exactMatch hgnc.symbol:25132 semapv:UnspecifiedMatching +OMIM:610096 TIMD4 skos:exactMatch hgnc.symbol:TIMD4 semapv:UnspecifiedMatching +OMIM:610096 TIMD4 skos:exactMatch ncbigene:91937 semapv:UnspecifiedMatching +OMIM:610097 ODF4 skos:exactMatch hgnc.symbol:19056 semapv:UnspecifiedMatching +OMIM:610097 ODF4 skos:exactMatch hgnc.symbol:ODF4 semapv:UnspecifiedMatching +OMIM:610097 ODF4 skos:exactMatch ncbigene:146852 semapv:UnspecifiedMatching +OMIM:610098 MCM9 skos:exactMatch hgnc.symbol:21484 semapv:UnspecifiedMatching +OMIM:610098 MCM9 skos:exactMatch hgnc.symbol:MCM9 semapv:UnspecifiedMatching +OMIM:610098 MCM9 skos:exactMatch ncbigene:254394 semapv:UnspecifiedMatching +OMIM:610099 myopathy, distal, 3 skos:exactMatch MONDO:0012410 semapv:UnspecifiedMatching +OMIM:610099 myopathy, distal, 3 skos:exactMatch Orphanet:399086 semapv:UnspecifiedMatching +OMIM:610099 myopathy, distal, 3 skos:exactMatch UMLS:C1864706 semapv:UnspecifiedMatching +OMIM:610100 giant axonal neuropathy 2, autosomal dominant skos:exactMatch MONDO:0012411 semapv:UnspecifiedMatching +OMIM:610101 CUTC skos:exactMatch hgnc.symbol:24271 semapv:UnspecifiedMatching +OMIM:610101 CUTC skos:exactMatch hgnc.symbol:CUTC semapv:UnspecifiedMatching +OMIM:610101 CUTC skos:exactMatch ncbigene:51076 semapv:UnspecifiedMatching +OMIM:610102 complement component 7 deficiency skos:exactMatch MONDO:0012412 semapv:UnspecifiedMatching +OMIM:610102 complement component 7 deficiency skos:exactMatch Orphanet:169150 semapv:UnspecifiedMatching +OMIM:610102 complement component 7 deficiency skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching +OMIM:610103 S100Z skos:exactMatch hgnc.symbol:30367 semapv:UnspecifiedMatching +OMIM:610103 S100Z skos:exactMatch hgnc.symbol:S100Z semapv:UnspecifiedMatching +OMIM:610103 S100Z skos:exactMatch ncbigene:170591 semapv:UnspecifiedMatching +OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:31506 semapv:UnspecifiedMatching +OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:MIR125B1 semapv:UnspecifiedMatching +OMIM:610104 MIR125B1 skos:exactMatch ncbigene:406911 semapv:UnspecifiedMatching +OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:31507 semapv:UnspecifiedMatching +OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:MIR125B2 semapv:UnspecifiedMatching +OMIM:610105 MIR125B2 skos:exactMatch ncbigene:406912 semapv:UnspecifiedMatching +OMIM:610106 DBNL skos:exactMatch hgnc.symbol:2696 semapv:UnspecifiedMatching +OMIM:610106 DBNL skos:exactMatch hgnc.symbol:DBNL semapv:UnspecifiedMatching +OMIM:610106 DBNL skos:exactMatch ncbigene:28988 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch UMLS:C1425254 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch UMLS:C4540266 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:18028 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:OSGEP semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch ncbigene:55644 semapv:UnspecifiedMatching +OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:21625 semapv:UnspecifiedMatching +OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:ANO1 semapv:UnspecifiedMatching +OMIM:610108 ANO1 skos:exactMatch ncbigene:55107 semapv:UnspecifiedMatching +OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:1183 semapv:UnspecifiedMatching +OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:ANO2 semapv:UnspecifiedMatching +OMIM:610109 ANO2 skos:exactMatch ncbigene:57101 semapv:UnspecifiedMatching +OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:14004 semapv:UnspecifiedMatching +OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:ANO3 semapv:UnspecifiedMatching +OMIM:610110 ANO3 skos:exactMatch ncbigene:63982 semapv:UnspecifiedMatching +OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:23837 semapv:UnspecifiedMatching +OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:ANO4 semapv:UnspecifiedMatching +OMIM:610111 ANO4 skos:exactMatch ncbigene:121601 semapv:UnspecifiedMatching +OMIM:610112 CMIP skos:exactMatch hgnc.symbol:24319 semapv:UnspecifiedMatching +OMIM:610112 CMIP skos:exactMatch hgnc.symbol:CMIP semapv:UnspecifiedMatching +OMIM:610112 CMIP skos:exactMatch ncbigene:80790 semapv:UnspecifiedMatching +OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:19706 semapv:UnspecifiedMatching +OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:ADAMTSL4 semapv:UnspecifiedMatching +OMIM:610113 ADAMTSL4 skos:exactMatch ncbigene:54507 semapv:UnspecifiedMatching +OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:25525 semapv:UnspecifiedMatching +OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:NDC1 semapv:UnspecifiedMatching +OMIM:610115 TMEM48 skos:exactMatch ncbigene:55706 semapv:UnspecifiedMatching +OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:16442 semapv:UnspecifiedMatching +OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:P2RY14 semapv:UnspecifiedMatching +OMIM:610116 P2RY14 skos:exactMatch ncbigene:9934 semapv:UnspecifiedMatching +OMIM:610117 SLC26A11 skos:exactMatch hgnc.symbol:14471 semapv:UnspecifiedMatching +OMIM:610117 SLC26A11 skos:exactMatch hgnc.symbol:SLC26A11 semapv:UnspecifiedMatching +OMIM:610117 SLC26A11 skos:exactMatch ncbigene:284129 semapv:UnspecifiedMatching +OMIM:610118 GPR33 skos:exactMatch hgnc.symbol:4489 semapv:UnspecifiedMatching +OMIM:610118 GPR33 skos:exactMatch hgnc.symbol:GPR33 semapv:UnspecifiedMatching +OMIM:610118 GPR33 skos:exactMatch ncbigene:2856 semapv:UnspecifiedMatching +OMIM:610119 TENM2 skos:exactMatch hgnc.symbol:29943 semapv:UnspecifiedMatching +OMIM:610119 TENM2 skos:exactMatch hgnc.symbol:TENM2 semapv:UnspecifiedMatching +OMIM:610119 TENM2 skos:exactMatch ncbigene:57451 semapv:UnspecifiedMatching +OMIM:610120 TSPAN33 skos:exactMatch hgnc.symbol:28743 semapv:UnspecifiedMatching +OMIM:610120 TSPAN33 skos:exactMatch hgnc.symbol:TSPAN33 semapv:UnspecifiedMatching +OMIM:610120 TSPAN33 skos:exactMatch ncbigene:340348 semapv:UnspecifiedMatching +OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:24003 semapv:UnspecifiedMatching +OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:HTR3C semapv:UnspecifiedMatching +OMIM:610121 HTR3C skos:exactMatch ncbigene:170572 semapv:UnspecifiedMatching +OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:24004 semapv:UnspecifiedMatching +OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:HTR3D semapv:UnspecifiedMatching +OMIM:610122 HTR3D skos:exactMatch ncbigene:200909 semapv:UnspecifiedMatching +OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:24005 semapv:UnspecifiedMatching +OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:HTR3E semapv:UnspecifiedMatching +OMIM:610123 HTR3E skos:exactMatch ncbigene:285242 semapv:UnspecifiedMatching +OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:21755 semapv:UnspecifiedMatching +OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:CHST13 semapv:UnspecifiedMatching +OMIM:610124 CHST13 skos:exactMatch ncbigene:166012 semapv:UnspecifiedMatching +OMIM:610125 microphthalmia, syndromic 5 skos:exactMatch MONDO:0012413 semapv:UnspecifiedMatching +OMIM:610127 ceroid lipofuscinosis, neuronal, 10 skos:exactMatch MONDO:0012414 semapv:UnspecifiedMatching +OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:17422 semapv:UnspecifiedMatching +OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:CHST11 semapv:UnspecifiedMatching +OMIM:610128 CHST11 skos:exactMatch ncbigene:50515 semapv:UnspecifiedMatching +OMIM:610129 CHST12 skos:exactMatch hgnc.symbol:17423 semapv:UnspecifiedMatching +OMIM:610129 CHST12 skos:exactMatch hgnc.symbol:CHST12 semapv:UnspecifiedMatching +OMIM:610129 CHST12 skos:exactMatch ncbigene:55501 semapv:UnspecifiedMatching +OMIM:610130 SLC26A1 skos:exactMatch hgnc.symbol:10993 semapv:UnspecifiedMatching +OMIM:610130 SLC26A1 skos:exactMatch hgnc.symbol:SLC26A1 semapv:UnspecifiedMatching +OMIM:610130 SLC26A1 skos:exactMatch ncbigene:10861 semapv:UnspecifiedMatching +OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch MONDO:0012415 semapv:UnspecifiedMatching +OMIM:610132 VANGL1 skos:exactMatch hgnc.symbol:15512 semapv:UnspecifiedMatching +OMIM:610132 VANGL1 skos:exactMatch hgnc.symbol:VANGL1 semapv:UnspecifiedMatching +OMIM:610132 VANGL1 skos:exactMatch ncbigene:81839 semapv:UnspecifiedMatching +OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc.symbol:19343 semapv:UnspecifiedMatching +OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc.symbol:ST6GALNAC3 semapv:UnspecifiedMatching +OMIM:610133 ST6GALNAC3 skos:exactMatch ncbigene:256435 semapv:UnspecifiedMatching +OMIM:610134 ST6GALNAC5 skos:exactMatch UMLS:C1539871 semapv:UnspecifiedMatching +OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc.symbol:19342 semapv:UnspecifiedMatching +OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc.symbol:ST6GALNAC5 semapv:UnspecifiedMatching +OMIM:610134 ST6GALNAC5 skos:exactMatch ncbigene:81849 semapv:UnspecifiedMatching +OMIM:610135 ST6GALNAC6 skos:exactMatch UMLS:C1539872 semapv:UnspecifiedMatching +OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc.symbol:23364 semapv:UnspecifiedMatching +OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc.symbol:ST6GALNAC6 semapv:UnspecifiedMatching +OMIM:610135 ST6GALNAC6 skos:exactMatch ncbigene:30815 semapv:UnspecifiedMatching +OMIM:610136 devriendt syndrome skos:exactMatch MONDO:0012416 semapv:UnspecifiedMatching +OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc.symbol:10867 semapv:UnspecifiedMatching +OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc.symbol:ST6GALNAC2 semapv:UnspecifiedMatching +OMIM:610137 ST6GALNAC2 skos:exactMatch ncbigene:10610 semapv:UnspecifiedMatching +OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc.symbol:23614 semapv:UnspecifiedMatching +OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc.symbol:ST6GALNAC1 semapv:UnspecifiedMatching +OMIM:610138 ST6GALNAC1 skos:exactMatch ncbigene:55808 semapv:UnspecifiedMatching +OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:23317 semapv:UnspecifiedMatching +OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:ST8SIA6 semapv:UnspecifiedMatching +OMIM:610139 ST8SIA6 skos:exactMatch ncbigene:338596 semapv:UnspecifiedMatching +OMIM:610140 heart-hand syndrome, slovenian iia skos:exactMatch MONDO:0012417 semapv:UnspecifiedMatching +OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:29021 semapv:UnspecifiedMatching +OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:CEP290 semapv:UnspecifiedMatching +OMIM:610142 CEP290 skos:exactMatch ncbigene:80184 semapv:UnspecifiedMatching +OMIM:610143 deafness, autosomal recessive 62 skos:exactMatch MONDO:0012418 semapv:UnspecifiedMatching +OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:27011 semapv:UnspecifiedMatching +OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:TBC1D3B semapv:UnspecifiedMatching +OMIM:610144 TBC1D3B skos:exactMatch ncbigene:414059 semapv:UnspecifiedMatching +OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:13275 semapv:UnspecifiedMatching +OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:ECE2 semapv:UnspecifiedMatching +OMIM:610145 ECE2 skos:exactMatch ncbigene:9718 semapv:UnspecifiedMatching +OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:14062 semapv:UnspecifiedMatching +OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:IGF2-AS semapv:UnspecifiedMatching +OMIM:610146 IGF2AS skos:exactMatch ncbigene:51214 semapv:UnspecifiedMatching +OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:19680 semapv:UnspecifiedMatching +OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:GPBAR1 semapv:UnspecifiedMatching +OMIM:610147 GPBAR1 skos:exactMatch ncbigene:151306 semapv:UnspecifiedMatching +OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:26291 semapv:UnspecifiedMatching +OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:BBS10 semapv:UnspecifiedMatching +OMIM:610148 BBS10 skos:exactMatch ncbigene:79738 semapv:UnspecifiedMatching +OMIM:610149 macular degeneration, age-related, 7 skos:exactMatch MONDO:0012419 semapv:UnspecifiedMatching +OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:1618 semapv:UnspecifiedMatching +OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:CCT5 semapv:UnspecifiedMatching +OMIM:610150 CCT5 skos:exactMatch ncbigene:22948 semapv:UnspecifiedMatching +OMIM:610151 METAP1 skos:exactMatch hgnc.symbol:15789 semapv:UnspecifiedMatching +OMIM:610151 METAP1 skos:exactMatch hgnc.symbol:METAP1 semapv:UnspecifiedMatching +OMIM:610151 METAP1 skos:exactMatch ncbigene:23173 semapv:UnspecifiedMatching +OMIM:610152 CENPM skos:exactMatch hgnc.symbol:18352 semapv:UnspecifiedMatching +OMIM:610152 CENPM skos:exactMatch hgnc.symbol:CENPM semapv:UnspecifiedMatching +OMIM:610152 CENPM skos:exactMatch ncbigene:79019 semapv:UnspecifiedMatching +OMIM:610153 deafness, autosomal recessive 49 skos:exactMatch MONDO:0012420 semapv:UnspecifiedMatching +OMIM:610154 deafness, autosomal recessive 44 skos:exactMatch MONDO:0012421 semapv:UnspecifiedMatching +OMIM:610155 iia 1 diabetes mellitus 19 skos:exactMatch MONDO:0012422 semapv:UnspecifiedMatching +OMIM:610155 iia 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:UnspecifiedMatching +OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome skos:exactMatch MONDO:0012423 semapv:UnspecifiedMatching +OMIM:610157 heat-shock RNA 1 skos:exactMatch MONDO:0012424 semapv:UnspecifiedMatching +OMIM:610158 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch MONDO:0012425 semapv:UnspecifiedMatching +OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:18316 semapv:UnspecifiedMatching +OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:ZNF366 semapv:UnspecifiedMatching +OMIM:610159 ZNF366 skos:exactMatch ncbigene:167465 semapv:UnspecifiedMatching +OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:18320 semapv:UnspecifiedMatching +OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:ZNF367 semapv:UnspecifiedMatching +OMIM:610160 ZNF367 skos:exactMatch ncbigene:195828 semapv:UnspecifiedMatching +OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:15581 semapv:UnspecifiedMatching +OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:TFAP2D semapv:UnspecifiedMatching +OMIM:610161 TFAP2D skos:exactMatch ncbigene:83741 semapv:UnspecifiedMatching +OMIM:610162 CCDC28B skos:exactMatch hgnc.symbol:28163 semapv:UnspecifiedMatching +OMIM:610162 CCDC28B skos:exactMatch hgnc.symbol:CCDC28B semapv:UnspecifiedMatching +OMIM:610162 CCDC28B skos:exactMatch ncbigene:79140 semapv:UnspecifiedMatching +OMIM:610163 immunodeficiency 25 skos:exactMatch MONDO:0012426 semapv:UnspecifiedMatching +OMIM:610164 MIRN134 skos:exactMatch hgnc.symbol:31519 semapv:UnspecifiedMatching +OMIM:610164 MIRN134 skos:exactMatch hgnc.symbol:MIR134 semapv:UnspecifiedMatching +OMIM:610164 MIRN134 skos:exactMatch ncbigene:406924 semapv:UnspecifiedMatching +OMIM:610165 GTDC1 skos:exactMatch hgnc.symbol:20887 semapv:UnspecifiedMatching +OMIM:610165 GTDC1 skos:exactMatch hgnc.symbol:GTDC1 semapv:UnspecifiedMatching +OMIM:610165 GTDC1 skos:exactMatch ncbigene:79712 semapv:UnspecifiedMatching +OMIM:610166 IQSEC1 skos:exactMatch hgnc.symbol:29112 semapv:UnspecifiedMatching +OMIM:610166 IQSEC1 skos:exactMatch hgnc.symbol:IQSEC1 semapv:UnspecifiedMatching +OMIM:610166 IQSEC1 skos:exactMatch ncbigene:9922 semapv:UnspecifiedMatching +OMIM:610167 PHPT1 skos:exactMatch hgnc.symbol:30033 semapv:UnspecifiedMatching +OMIM:610167 PHPT1 skos:exactMatch hgnc.symbol:PHPT1 semapv:UnspecifiedMatching +OMIM:610167 PHPT1 skos:exactMatch ncbigene:29085 semapv:UnspecifiedMatching +OMIM:610168 loeys-dietz syndrome 2 skos:exactMatch MONDO:0012427 semapv:UnspecifiedMatching +OMIM:610169 INO80 skos:exactMatch hgnc.symbol:26956 semapv:UnspecifiedMatching +OMIM:610169 INO80 skos:exactMatch hgnc.symbol:INO80 semapv:UnspecifiedMatching +OMIM:610169 INO80 skos:exactMatch ncbigene:54617 semapv:UnspecifiedMatching +OMIM:610170 kyphoscoliosis 1 skos:exactMatch MONDO:0012428 semapv:UnspecifiedMatching +OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:24193 semapv:UnspecifiedMatching +OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:CALML6 semapv:UnspecifiedMatching +OMIM:610171 CALML6 skos:exactMatch ncbigene:163688 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch UMLS:C1857794 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:26293 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:SPEF2 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch ncbigene:79925 semapv:UnspecifiedMatching +OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:31497 semapv:UnspecifiedMatching +OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:MIR10A semapv:UnspecifiedMatching +OMIM:610173 MIR10A skos:exactMatch ncbigene:406902 semapv:UnspecifiedMatching +OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:24463 semapv:UnspecifiedMatching +OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:UBTD2 semapv:UnspecifiedMatching +OMIM:610174 UBTD2 skos:exactMatch ncbigene:92181 semapv:UnspecifiedMatching +OMIM:610175 MIR130A skos:exactMatch hgnc.symbol:31514 semapv:UnspecifiedMatching +OMIM:610175 MIR130A skos:exactMatch hgnc.symbol:MIR130A semapv:UnspecifiedMatching +OMIM:610175 MIR130A skos:exactMatch ncbigene:406919 semapv:UnspecifiedMatching +OMIM:610176 SCGB1C1 skos:exactMatch hgnc.symbol:18394 semapv:UnspecifiedMatching +OMIM:610176 SCGB1C1 skos:exactMatch hgnc.symbol:SCGB1C1 semapv:UnspecifiedMatching +OMIM:610176 SCGB1C1 skos:exactMatch ncbigene:147199 semapv:UnspecifiedMatching +OMIM:610177 AEN skos:exactMatch hgnc.symbol:25722 semapv:UnspecifiedMatching +OMIM:610177 AEN skos:exactMatch hgnc.symbol:AEN semapv:UnspecifiedMatching +OMIM:610177 AEN skos:exactMatch ncbigene:64782 semapv:UnspecifiedMatching +OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:19960 semapv:UnspecifiedMatching +OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:KIAA0586 semapv:UnspecifiedMatching +OMIM:610178 KIAA0586 skos:exactMatch ncbigene:9786 semapv:UnspecifiedMatching +OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:30041 semapv:UnspecifiedMatching +OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:PLB1 semapv:UnspecifiedMatching +OMIM:610179 PLB1 skos:exactMatch ncbigene:151056 semapv:UnspecifiedMatching +OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:8510 semapv:UnspecifiedMatching +OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:OSTF1 semapv:UnspecifiedMatching +OMIM:610180 OSTF1 skos:exactMatch ncbigene:26578 semapv:UnspecifiedMatching +OMIM:610181 aicardi-goutieres syndrome 2 skos:exactMatch MONDO:0012429 semapv:UnspecifiedMatching +OMIM:610182 PALMD skos:exactMatch hgnc.symbol:15846 semapv:UnspecifiedMatching +OMIM:610182 PALMD skos:exactMatch hgnc.symbol:PALMD semapv:UnspecifiedMatching +OMIM:610182 PALMD skos:exactMatch ncbigene:54873 semapv:UnspecifiedMatching +OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:30164 semapv:UnspecifiedMatching +OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:ZFAND6 semapv:UnspecifiedMatching +OMIM:610183 ZFAND6 skos:exactMatch ncbigene:54469 semapv:UnspecifiedMatching +OMIM:610184 MOGAT3 skos:exactMatch hgnc.symbol:23249 semapv:UnspecifiedMatching +OMIM:610184 MOGAT3 skos:exactMatch hgnc.symbol:MOGAT3 semapv:UnspecifiedMatching +OMIM:610184 MOGAT3 skos:exactMatch ncbigene:346606 semapv:UnspecifiedMatching +OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 skos:exactMatch MONDO:0012430 semapv:UnspecifiedMatching +OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:34434 semapv:UnspecifiedMatching +OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:USP17L2 semapv:UnspecifiedMatching +OMIM:610186 USP17L2 skos:exactMatch ncbigene:377630 semapv:UnspecifiedMatching +OMIM:610187 diaphragmatic hernia 3 skos:exactMatch MONDO:0012431 semapv:UnspecifiedMatching +OMIM:610188 joubert syndrome 5 skos:exactMatch MONDO:0012432 semapv:UnspecifiedMatching +OMIM:610189 senior-loken syndrome 6 skos:exactMatch MONDO:0012433 semapv:UnspecifiedMatching +OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:15993 semapv:UnspecifiedMatching +OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:CHST8 semapv:UnspecifiedMatching +OMIM:610190 CHST8 skos:exactMatch ncbigene:64377 semapv:UnspecifiedMatching +OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:19898 semapv:UnspecifiedMatching +OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:CHST9 semapv:UnspecifiedMatching +OMIM:610191 CHST9 skos:exactMatch ncbigene:83539 semapv:UnspecifiedMatching +OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:28510 semapv:UnspecifiedMatching +OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:GLIS3 semapv:UnspecifiedMatching +OMIM:610192 GLIS3 skos:exactMatch ncbigene:169792 semapv:UnspecifiedMatching +OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 skos:exactMatch MONDO:0012434 semapv:UnspecifiedMatching +OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:28596 semapv:UnspecifiedMatching +OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:B3GALNT2 semapv:UnspecifiedMatching +OMIM:610194 B3GALNT2 skos:exactMatch ncbigene:148789 semapv:UnspecifiedMatching +OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:9632 semapv:UnspecifiedMatching +OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:PTOV1 semapv:UnspecifiedMatching +OMIM:610195 PTOV1 skos:exactMatch ncbigene:53635 semapv:UnspecifiedMatching +OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:28111 semapv:UnspecifiedMatching +OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:ELMOD2 semapv:UnspecifiedMatching +OMIM:610196 ELMOD2 skos:exactMatch ncbigene:255520 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch UMLS:C1537681 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch UMLS:C4225323 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch hgnc.symbol:28845 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch hgnc.symbol:MED25 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch ncbigene:81857 semapv:UnspecifiedMatching +OMIM:610198 3-methylglutaconic aciduria, iia 5 skos:exactMatch MONDO:0012435 semapv:UnspecifiedMatching +OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism skos:exactMatch MONDO:0012436 semapv:UnspecifiedMatching +OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:14278 semapv:UnspecifiedMatching +OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:MRPL13 semapv:UnspecifiedMatching +OMIM:610200 MRPL13 skos:exactMatch ncbigene:28998 semapv:UnspecifiedMatching +OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:21107 semapv:UnspecifiedMatching +OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:CEP162 semapv:UnspecifiedMatching +OMIM:610201 CEP162 skos:exactMatch ncbigene:22832 semapv:UnspecifiedMatching +OMIM:610202 cataract 21, multiple types skos:exactMatch MONDO:0012437 semapv:UnspecifiedMatching +OMIM:610202 cataract 21, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C1857768 semapv:UnspecifiedMatching +OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C3888097 semapv:UnspecifiedMatching +OMIM:610204 pontocerebellar hypoplasia, iia 5 skos:exactMatch MONDO:0012438 semapv:UnspecifiedMatching +OMIM:610205 alagille syndrome 2 skos:exactMatch MONDO:0012439 semapv:UnspecifiedMatching +OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:16438 semapv:UnspecifiedMatching +OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:SLC4A11 semapv:UnspecifiedMatching +OMIM:610206 SLC4A11 skos:exactMatch ncbigene:83959 semapv:UnspecifiedMatching +OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:11035 semapv:UnspecifiedMatching +OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:SLC4A9 semapv:UnspecifiedMatching +OMIM:610207 SLC4A9 skos:exactMatch ncbigene:83697 semapv:UnspecifiedMatching +OMIM:610208 migraine with or without aura, susceptibility to, 10 skos:exactMatch MONDO:0012440 semapv:UnspecifiedMatching +OMIM:610209 migraine with or without aura, susceptibility to, 11 skos:exactMatch MONDO:0012441 semapv:UnspecifiedMatching +OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:24966 semapv:UnspecifiedMatching +OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:MAF1 semapv:UnspecifiedMatching +OMIM:610210 MAF1 skos:exactMatch ncbigene:84232 semapv:UnspecifiedMatching +OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:20495 semapv:UnspecifiedMatching +OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:SLIRP semapv:UnspecifiedMatching +OMIM:610211 SLIRP skos:exactMatch ncbigene:81892 semapv:UnspecifiedMatching +OMIM:610212 deafness, autosomal recessive 66 skos:exactMatch MONDO:0012442 semapv:UnspecifiedMatching +OMIM:610213 aneurysm, intracranial berry, 4 skos:exactMatch MONDO:0012443 semapv:UnspecifiedMatching +OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:16787 semapv:UnspecifiedMatching +OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:EDEM3 semapv:UnspecifiedMatching +OMIM:610214 EDEM3 skos:exactMatch ncbigene:80267 semapv:UnspecifiedMatching +OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:30275 semapv:UnspecifiedMatching +OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:ARHGEF25 semapv:UnspecifiedMatching +OMIM:610215 ARHGEF25 skos:exactMatch ncbigene:115557 semapv:UnspecifiedMatching +OMIM:610216 ANO8 skos:exactMatch hgnc.symbol:29329 semapv:UnspecifiedMatching +OMIM:610216 ANO8 skos:exactMatch hgnc.symbol:ANO8 semapv:UnspecifiedMatching +OMIM:610216 ANO8 skos:exactMatch ncbigene:57719 semapv:UnspecifiedMatching +OMIM:610217 neurodegeneration with brain iron accumulation 2b skos:exactMatch MONDO:0012444 semapv:UnspecifiedMatching +OMIM:610218 SAP30BP skos:exactMatch hgnc.symbol:30785 semapv:UnspecifiedMatching +OMIM:610218 SAP30BP skos:exactMatch hgnc.symbol:SAP30BP semapv:UnspecifiedMatching +OMIM:610218 SAP30BP skos:exactMatch ncbigene:29115 semapv:UnspecifiedMatching +OMIM:610219 PJVK skos:exactMatch hgnc.symbol:29502 semapv:UnspecifiedMatching +OMIM:610219 PJVK skos:exactMatch hgnc.symbol:PJVK semapv:UnspecifiedMatching +OMIM:610219 PJVK skos:exactMatch ncbigene:494513 semapv:UnspecifiedMatching +OMIM:610220 deafness, autosomal recessive 59 skos:exactMatch MONDO:0012445 semapv:UnspecifiedMatching +OMIM:610221 AKT1S1 skos:exactMatch hgnc.symbol:28426 semapv:UnspecifiedMatching +OMIM:610221 AKT1S1 skos:exactMatch hgnc.symbol:AKT1S1 semapv:UnspecifiedMatching +OMIM:610221 AKT1S1 skos:exactMatch ncbigene:84335 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch UMLS:C1425756 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:18750 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:RIN2 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch ncbigene:54453 semapv:UnspecifiedMatching +OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:18751 semapv:UnspecifiedMatching +OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:RIN3 semapv:UnspecifiedMatching +OMIM:610223 RIN3 skos:exactMatch ncbigene:79890 semapv:UnspecifiedMatching +OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:27845 semapv:UnspecifiedMatching +OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:SOHLH1 semapv:UnspecifiedMatching +OMIM:610224 SOHLH1 skos:exactMatch ncbigene:402381 semapv:UnspecifiedMatching +OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:28749 semapv:UnspecifiedMatching +OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:RPS19BP1 semapv:UnspecifiedMatching +OMIM:610225 RPS19BP1 skos:exactMatch ncbigene:91582 semapv:UnspecifiedMatching +OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:25843 semapv:UnspecifiedMatching +OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:ZNF750 semapv:UnspecifiedMatching +OMIM:610226 ZNF750 skos:exactMatch ncbigene:79755 semapv:UnspecifiedMatching +OMIM:610227 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch MONDO:0012446 semapv:UnspecifiedMatching +OMIM:610228 CAPN13 skos:exactMatch hgnc.symbol:16663 semapv:UnspecifiedMatching +OMIM:610228 CAPN13 skos:exactMatch hgnc.symbol:CAPN13 semapv:UnspecifiedMatching +OMIM:610228 CAPN13 skos:exactMatch ncbigene:92291 semapv:UnspecifiedMatching +OMIM:610229 CAPN14 skos:exactMatch hgnc.symbol:16664 semapv:UnspecifiedMatching +OMIM:610229 CAPN14 skos:exactMatch hgnc.symbol:CAPN14 semapv:UnspecifiedMatching +OMIM:610229 CAPN14 skos:exactMatch ncbigene:440854 semapv:UnspecifiedMatching +OMIM:610230 TRMU skos:exactMatch hgnc.symbol:25481 semapv:UnspecifiedMatching +OMIM:610230 TRMU skos:exactMatch hgnc.symbol:TRMU semapv:UnspecifiedMatching +OMIM:610230 TRMU skos:exactMatch ncbigene:55687 semapv:UnspecifiedMatching +OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:17615 semapv:UnspecifiedMatching +OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:PCGF1 semapv:UnspecifiedMatching +OMIM:610231 PCGF1 skos:exactMatch ncbigene:84759 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch UMLS:C1540216 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:24113 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:ATP13A3 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch ncbigene:79572 semapv:UnspecifiedMatching +OMIM:610234 synpolydactyly 3 skos:exactMatch MONDO:0012447 semapv:UnspecifiedMatching +OMIM:610235 MTFP1 skos:exactMatch UMLS:C1853254 semapv:UnspecifiedMatching +OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:26945 semapv:UnspecifiedMatching +OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:MTFP1 semapv:UnspecifiedMatching +OMIM:610235 MTFP1 skos:exactMatch ncbigene:51537 semapv:UnspecifiedMatching +OMIM:610236 LNPK skos:exactMatch hgnc.symbol:21610 semapv:UnspecifiedMatching +OMIM:610236 LNPK skos:exactMatch hgnc.symbol:LNPK semapv:UnspecifiedMatching +OMIM:610236 LNPK skos:exactMatch ncbigene:80856 semapv:UnspecifiedMatching +OMIM:610237 MED30 skos:exactMatch hgnc.symbol:23032 semapv:UnspecifiedMatching +OMIM:610237 MED30 skos:exactMatch hgnc.symbol:MED30 semapv:UnspecifiedMatching +OMIM:610237 MED30 skos:exactMatch ncbigene:90390 semapv:UnspecifiedMatching +OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:23091 semapv:UnspecifiedMatching +OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:SLC5A11 semapv:UnspecifiedMatching +OMIM:610238 SLC5A11 skos:exactMatch ncbigene:115584 semapv:UnspecifiedMatching +OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:29568 semapv:UnspecifiedMatching +OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:LHFPL4 semapv:UnspecifiedMatching +OMIM:610240 LHFPL4 skos:exactMatch ncbigene:375323 semapv:UnspecifiedMatching +OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:17118 semapv:UnspecifiedMatching +OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:RNF32 semapv:UnspecifiedMatching +OMIM:610241 RNF32 skos:exactMatch ncbigene:140545 semapv:UnspecifiedMatching +OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:48971 semapv:UnspecifiedMatching +OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:RNF32-DT semapv:UnspecifiedMatching +OMIM:610242 C7ORF13 skos:exactMatch ncbigene:100506380 semapv:UnspecifiedMatching +OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:26559 semapv:UnspecifiedMatching +OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:ZFYVE27 semapv:UnspecifiedMatching +OMIM:610243 ZFYVE27 skos:exactMatch ncbigene:118813 semapv:UnspecifiedMatching +OMIM:610244 spastic paraplegia 33, autosomal dominant skos:exactMatch MONDO:0012448 semapv:UnspecifiedMatching +OMIM:610245 spinocerebellar ataxia 23 skos:exactMatch MONDO:0012449 semapv:UnspecifiedMatching +OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch MONDO:0012450 semapv:UnspecifiedMatching +OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching +OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching +OMIM:610247 esophagitis, eosinophilic, 1 skos:exactMatch MONDO:0012451 semapv:UnspecifiedMatching +OMIM:610248 deafness, autosomal recessive 65 skos:exactMatch MONDO:0012452 semapv:UnspecifiedMatching +OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:14683 semapv:UnspecifiedMatching +OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:POFUT2 semapv:UnspecifiedMatching +OMIM:610249 POFUT2 skos:exactMatch ncbigene:23275 semapv:UnspecifiedMatching +OMIM:610250 spastic paraplegia 31, autosomal dominant skos:exactMatch MONDO:0012453 semapv:UnspecifiedMatching +OMIM:610251 alcohol sensitivity, acute skos:exactMatch MONDO:0012454 semapv:UnspecifiedMatching +OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:31500 semapv:UnspecifiedMatching +OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:MIR1-2 semapv:UnspecifiedMatching +OMIM:610252 MIR1-2 skos:exactMatch ncbigene:406905 semapv:UnspecifiedMatching +OMIM:610253 kleefstra syndrome 1 skos:exactMatch MONDO:0027407 semapv:UnspecifiedMatching +OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:31517 semapv:UnspecifiedMatching +OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:MIR133A1 semapv:UnspecifiedMatching +OMIM:610254 MIR133A1 skos:exactMatch ncbigene:406922 semapv:UnspecifiedMatching +OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:31518 semapv:UnspecifiedMatching +OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:MIR133A2 semapv:UnspecifiedMatching +OMIM:610255 MIR133A2 skos:exactMatch ncbigene:406923 semapv:UnspecifiedMatching +OMIM:610256 anterior segment dysgenesis 2 skos:exactMatch MONDO:0012456 semapv:UnspecifiedMatching +OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:17052 semapv:UnspecifiedMatching +OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:SEC31A semapv:UnspecifiedMatching +OMIM:610257 SEC31A skos:exactMatch ncbigene:22872 semapv:UnspecifiedMatching +OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:23197 semapv:UnspecifiedMatching +OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:SEC31B semapv:UnspecifiedMatching +OMIM:610258 SEC31B skos:exactMatch ncbigene:25956 semapv:UnspecifiedMatching +OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:33165 semapv:UnspecifiedMatching +OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:LINC00163 semapv:UnspecifiedMatching +OMIM:610259 LINC00163 skos:exactMatch ncbigene:727699 semapv:UnspecifiedMatching +OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch MONDO:0012457 semapv:UnspecifiedMatching +OMIM:610261 hypertension, essential, susceptibility to, 5 skos:exactMatch MONDO:0012458 semapv:UnspecifiedMatching +OMIM:610262 hypertension, essential, susceptibility to, 6 skos:exactMatch MONDO:0012459 semapv:UnspecifiedMatching +OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:30718 semapv:UnspecifiedMatching +OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:DNAJB13 semapv:UnspecifiedMatching +OMIM:610263 DNAJB13 skos:exactMatch ncbigene:374407 semapv:UnspecifiedMatching +OMIM:610264 TEPP skos:exactMatch hgnc.symbol:SPMIP8 semapv:UnspecifiedMatching +OMIM:610264 TEPP skos:exactMatch ncbigene:374739 semapv:UnspecifiedMatching +OMIM:610265 deafness, autosomal recessive 67 skos:exactMatch MONDO:0012460 semapv:UnspecifiedMatching +OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:29259 semapv:UnspecifiedMatching +OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:TAOK1 semapv:UnspecifiedMatching +OMIM:610266 TAOK1 skos:exactMatch ncbigene:57551 semapv:UnspecifiedMatching +OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:32583 semapv:UnspecifiedMatching +OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:METAP1D semapv:UnspecifiedMatching +OMIM:610267 METAP1D skos:exactMatch ncbigene:254042 semapv:UnspecifiedMatching +OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:18210 semapv:UnspecifiedMatching +OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:MOGAT1 semapv:UnspecifiedMatching +OMIM:610268 MOGAT1 skos:exactMatch ncbigene:116255 semapv:UnspecifiedMatching +OMIM:610269 skos:exactMatch MONDO:0012461 semapv:UnspecifiedMatching +OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:23248 semapv:UnspecifiedMatching +OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:MOGAT2 semapv:UnspecifiedMatching +OMIM:610270 MOGAT2 skos:exactMatch ncbigene:80168 semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch UMLS:C1423069 semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch UMLS:C4748357 semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch hgnc.symbol:14937 semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch hgnc.symbol:PIGS semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch ncbigene:94005 semapv:UnspecifiedMatching +OMIM:610272 PIGT skos:exactMatch hgnc.symbol:14938 semapv:UnspecifiedMatching +OMIM:610272 PIGT skos:exactMatch hgnc.symbol:PIGT semapv:UnspecifiedMatching +OMIM:610272 PIGT skos:exactMatch ncbigene:51604 semapv:UnspecifiedMatching +OMIM:610273 PIGM skos:exactMatch hgnc.symbol:18858 semapv:UnspecifiedMatching +OMIM:610273 PIGM skos:exactMatch hgnc.symbol:PIGM semapv:UnspecifiedMatching +OMIM:610273 PIGM skos:exactMatch ncbigene:93183 semapv:UnspecifiedMatching +OMIM:610274 PIGV skos:exactMatch hgnc.symbol:26031 semapv:UnspecifiedMatching +OMIM:610274 PIGV skos:exactMatch hgnc.symbol:PIGV semapv:UnspecifiedMatching +OMIM:610274 PIGV skos:exactMatch ncbigene:55650 semapv:UnspecifiedMatching +OMIM:610275 PIGW skos:exactMatch hgnc.symbol:23213 semapv:UnspecifiedMatching +OMIM:610275 PIGW skos:exactMatch hgnc.symbol:PIGW semapv:UnspecifiedMatching +OMIM:610275 PIGW skos:exactMatch ncbigene:284098 semapv:UnspecifiedMatching +OMIM:610276 PIGX skos:exactMatch hgnc.symbol:26046 semapv:UnspecifiedMatching +OMIM:610276 PIGX skos:exactMatch hgnc.symbol:PIGX semapv:UnspecifiedMatching +OMIM:610276 PIGX skos:exactMatch ncbigene:54965 semapv:UnspecifiedMatching +OMIM:610277 ORAI1 skos:exactMatch hgnc.symbol:25896 semapv:UnspecifiedMatching +OMIM:610277 ORAI1 skos:exactMatch hgnc.symbol:ORAI1 semapv:UnspecifiedMatching +OMIM:610277 ORAI1 skos:exactMatch ncbigene:84876 semapv:UnspecifiedMatching +OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.symbol:33631 semapv:UnspecifiedMatching +OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.symbol:PEAR1 semapv:UnspecifiedMatching +OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch ncbigene:375033 semapv:UnspecifiedMatching +OMIM:610279 pachygyria, frontotemporal skos:exactMatch MONDO:0012462 semapv:UnspecifiedMatching +OMIM:610280 OSTN skos:exactMatch hgnc.symbol:29961 semapv:UnspecifiedMatching +OMIM:610280 OSTN skos:exactMatch hgnc.symbol:OSTN semapv:UnspecifiedMatching +OMIM:610280 OSTN skos:exactMatch ncbigene:344901 semapv:UnspecifiedMatching +OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:23241 semapv:UnspecifiedMatching +OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:ZFP62 semapv:UnspecifiedMatching +OMIM:610281 ZFP62 skos:exactMatch ncbigene:643836 semapv:UnspecifiedMatching +OMIM:610282 retinitis pigmentosa 35 skos:exactMatch MONDO:0012463 semapv:UnspecifiedMatching +OMIM:610283 cone-rod dystrophy 10 skos:exactMatch MONDO:0012464 semapv:UnspecifiedMatching +OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:29569 semapv:UnspecifiedMatching +OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:LIPT1 semapv:UnspecifiedMatching +OMIM:610284 LIPT1 skos:exactMatch ncbigene:51601 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch UMLS:C1824957 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch UMLS:C1850792 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:26594 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:DOK7 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch ncbigene:285489 semapv:UnspecifiedMatching +OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:17557 semapv:UnspecifiedMatching +OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:LCMT1 semapv:UnspecifiedMatching +OMIM:610286 LCMT1 skos:exactMatch ncbigene:51451 semapv:UnspecifiedMatching +OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:28155 semapv:UnspecifiedMatching +OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:FBXL15 semapv:UnspecifiedMatching +OMIM:610287 FBXL15 skos:exactMatch ncbigene:79176 semapv:UnspecifiedMatching +OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:13567 semapv:UnspecifiedMatching +OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:GOLGA6A semapv:UnspecifiedMatching +OMIM:610288 GOLGA6A skos:exactMatch ncbigene:342096 semapv:UnspecifiedMatching +OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:18606 semapv:UnspecifiedMatching +OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:OXCT2 semapv:UnspecifiedMatching +OMIM:610289 OXCT2 skos:exactMatch ncbigene:64064 semapv:UnspecifiedMatching +OMIM:610290 GALNT12 skos:exactMatch hgnc.symbol:19877 semapv:UnspecifiedMatching +OMIM:610290 GALNT12 skos:exactMatch hgnc.symbol:GALNT12 semapv:UnspecifiedMatching +OMIM:610290 GALNT12 skos:exactMatch ncbigene:79695 semapv:UnspecifiedMatching +OMIM:610291 SV2C skos:exactMatch hgnc.symbol:30670 semapv:UnspecifiedMatching +OMIM:610291 SV2C skos:exactMatch hgnc.symbol:SV2C semapv:UnspecifiedMatching +OMIM:610291 SV2C skos:exactMatch ncbigene:22987 semapv:UnspecifiedMatching +OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:18233 semapv:UnspecifiedMatching +OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:BANK1 semapv:UnspecifiedMatching +OMIM:610292 BANK1 skos:exactMatch ncbigene:55024 semapv:UnspecifiedMatching +OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch MONDO:0012465 semapv:UnspecifiedMatching +OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching +OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C1853205 semapv:UnspecifiedMatching +OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching +OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:22208 semapv:UnspecifiedMatching +OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:NUDCD3 semapv:UnspecifiedMatching +OMIM:610296 NUDCD3 skos:exactMatch ncbigene:23386 semapv:UnspecifiedMatching +OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch MONDO:0012466 semapv:UnspecifiedMatching +OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:29573 semapv:UnspecifiedMatching +OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:PHLDB2 semapv:UnspecifiedMatching +OMIM:610298 PHLDB2 skos:exactMatch ncbigene:90102 semapv:UnspecifiedMatching +OMIM:610299 SLC6A17 skos:exactMatch hgnc.symbol:31399 semapv:UnspecifiedMatching +OMIM:610299 SLC6A17 skos:exactMatch hgnc.symbol:SLC6A17 semapv:UnspecifiedMatching +OMIM:610299 SLC6A17 skos:exactMatch ncbigene:388662 semapv:UnspecifiedMatching +OMIM:610300 SLC6A18 skos:exactMatch hgnc.symbol:26441 semapv:UnspecifiedMatching +OMIM:610300 SLC6A18 skos:exactMatch hgnc.symbol:SLC6A18 semapv:UnspecifiedMatching +OMIM:610300 SLC6A18 skos:exactMatch ncbigene:348932 semapv:UnspecifiedMatching +OMIM:610301 TMEM57 skos:exactMatch hgnc.symbol:25572 semapv:UnspecifiedMatching +OMIM:610301 TMEM57 skos:exactMatch hgnc.symbol:MACO1 semapv:UnspecifiedMatching +OMIM:610301 TMEM57 skos:exactMatch ncbigene:55219 semapv:UnspecifiedMatching +OMIM:610302 EDEM2 skos:exactMatch hgnc.symbol:15877 semapv:UnspecifiedMatching +OMIM:610302 EDEM2 skos:exactMatch hgnc.symbol:EDEM2 semapv:UnspecifiedMatching +OMIM:610302 EDEM2 skos:exactMatch ncbigene:55741 semapv:UnspecifiedMatching +OMIM:610303 MAFA skos:exactMatch hgnc.symbol:23145 semapv:UnspecifiedMatching +OMIM:610303 MAFA skos:exactMatch hgnc.symbol:MAFA semapv:UnspecifiedMatching +OMIM:610303 MAFA skos:exactMatch ncbigene:389692 semapv:UnspecifiedMatching +OMIM:610304 DERL2 skos:exactMatch hgnc.symbol:17943 semapv:UnspecifiedMatching +OMIM:610304 DERL2 skos:exactMatch hgnc.symbol:DERL2 semapv:UnspecifiedMatching +OMIM:610304 DERL2 skos:exactMatch ncbigene:51009 semapv:UnspecifiedMatching +OMIM:610305 DERL3 skos:exactMatch hgnc.symbol:14236 semapv:UnspecifiedMatching +OMIM:610305 DERL3 skos:exactMatch hgnc.symbol:DERL3 semapv:UnspecifiedMatching +OMIM:610305 DERL3 skos:exactMatch ncbigene:91319 semapv:UnspecifiedMatching +OMIM:610306 NPNT skos:exactMatch hgnc.symbol:27405 semapv:UnspecifiedMatching +OMIM:610306 NPNT skos:exactMatch hgnc.symbol:NPNT semapv:UnspecifiedMatching +OMIM:610306 NPNT skos:exactMatch ncbigene:255743 semapv:UnspecifiedMatching +OMIM:610307 CERK skos:exactMatch hgnc.symbol:19256 semapv:UnspecifiedMatching +OMIM:610307 CERK skos:exactMatch hgnc.symbol:CERK semapv:UnspecifiedMatching +OMIM:610307 CERK skos:exactMatch ncbigene:64781 semapv:UnspecifiedMatching +OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:20207 semapv:UnspecifiedMatching +OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:B3GLCT semapv:UnspecifiedMatching +OMIM:610308 B3GLCT skos:exactMatch ncbigene:145173 semapv:UnspecifiedMatching +OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:17895 semapv:UnspecifiedMatching +OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:UBE2S semapv:UnspecifiedMatching +OMIM:610309 UBE2S skos:exactMatch ncbigene:27338 semapv:UnspecifiedMatching +OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:43619 semapv:UnspecifiedMatching +OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:MGAT4D semapv:UnspecifiedMatching +OMIM:610310 MGAT4D skos:exactMatch ncbigene:152586 semapv:UnspecifiedMatching +OMIM:610311 MED28 skos:exactMatch hgnc.symbol:24628 semapv:UnspecifiedMatching +OMIM:610311 MED28 skos:exactMatch hgnc.symbol:MED28 semapv:UnspecifiedMatching +OMIM:610311 MED28 skos:exactMatch ncbigene:80306 semapv:UnspecifiedMatching +OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:17644 semapv:UnspecifiedMatching +OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:PIWIL2 semapv:UnspecifiedMatching +OMIM:610312 PIWIL2 skos:exactMatch ncbigene:55124 semapv:UnspecifiedMatching +OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch MONDO:0012467 semapv:UnspecifiedMatching +OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching +OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch UMLS:C1853198 semapv:UnspecifiedMatching +OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:18443 semapv:UnspecifiedMatching +OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:PIWIL3 semapv:UnspecifiedMatching +OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch ncbigene:440822 semapv:UnspecifiedMatching +OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:18444 semapv:UnspecifiedMatching +OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:PIWIL4 semapv:UnspecifiedMatching +OMIM:610315 PIWIL4 skos:exactMatch ncbigene:143689 semapv:UnspecifiedMatching +OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:23166 semapv:UnspecifiedMatching +OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:PNPT1 semapv:UnspecifiedMatching +OMIM:610316 PNPT1 skos:exactMatch ncbigene:87178 semapv:UnspecifiedMatching +OMIM:610317 COBL skos:exactMatch hgnc.symbol:22199 semapv:UnspecifiedMatching +OMIM:610317 COBL skos:exactMatch hgnc.symbol:COBL semapv:UnspecifiedMatching +OMIM:610317 COBL skos:exactMatch ncbigene:23242 semapv:UnspecifiedMatching +OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc.symbol:23571 semapv:UnspecifiedMatching +OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc.symbol:COBLL1 semapv:UnspecifiedMatching +OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch ncbigene:22837 semapv:UnspecifiedMatching +OMIM:610319 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch MONDO:0012468 semapv:UnspecifiedMatching +OMIM:610320 myopia 14 skos:exactMatch MONDO:0012469 semapv:UnspecifiedMatching +OMIM:610320 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching +OMIM:610321 prostate cancer, hereditary, 7 skos:exactMatch MONDO:0012470 semapv:UnspecifiedMatching +OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:18273 semapv:UnspecifiedMatching +OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:TRERF1 semapv:UnspecifiedMatching +OMIM:610322 TRERF1 skos:exactMatch ncbigene:55809 semapv:UnspecifiedMatching +OMIM:610323 MTDH skos:exactMatch hgnc.symbol:29608 semapv:UnspecifiedMatching +OMIM:610323 MTDH skos:exactMatch hgnc.symbol:MTDH semapv:UnspecifiedMatching +OMIM:610323 MTDH skos:exactMatch ncbigene:92140 semapv:UnspecifiedMatching +OMIM:610324 OXSM skos:exactMatch hgnc.symbol:26063 semapv:UnspecifiedMatching +OMIM:610324 OXSM skos:exactMatch hgnc.symbol:OXSM semapv:UnspecifiedMatching +OMIM:610324 OXSM skos:exactMatch ncbigene:54995 semapv:UnspecifiedMatching +OMIM:610325 NUDC skos:exactMatch hgnc.symbol:8045 semapv:UnspecifiedMatching +OMIM:610325 NUDC skos:exactMatch hgnc.symbol:NUDC semapv:UnspecifiedMatching +OMIM:610325 NUDC skos:exactMatch ncbigene:10726 semapv:UnspecifiedMatching +OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:25671 semapv:UnspecifiedMatching +OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:RNASEH2B semapv:UnspecifiedMatching +OMIM:610326 RNASEH2B skos:exactMatch ncbigene:79621 semapv:UnspecifiedMatching +OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:19760 semapv:UnspecifiedMatching +OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:RUFY1 semapv:UnspecifiedMatching +OMIM:610327 RUFY1 skos:exactMatch ncbigene:80230 semapv:UnspecifiedMatching +OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:19761 semapv:UnspecifiedMatching +OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:RUFY2 semapv:UnspecifiedMatching +OMIM:610328 RUFY2 skos:exactMatch ncbigene:55680 semapv:UnspecifiedMatching +OMIM:610329 aicardi-goutieres syndrome 3 skos:exactMatch MONDO:0012471 semapv:UnspecifiedMatching +OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:24116 semapv:UnspecifiedMatching +OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:RNASEH2C semapv:UnspecifiedMatching +OMIM:610330 RNASEH2C skos:exactMatch ncbigene:84153 semapv:UnspecifiedMatching +OMIM:610331 HES6 skos:exactMatch UMLS:C1425399 semapv:UnspecifiedMatching +OMIM:610331 HES6 skos:exactMatch hgnc.symbol:18254 semapv:UnspecifiedMatching +OMIM:610331 HES6 skos:exactMatch hgnc.symbol:HES6 semapv:UnspecifiedMatching +OMIM:610331 HES6 skos:exactMatch ncbigene:55502 semapv:UnspecifiedMatching +OMIM:610333 aicardi-goutieres syndrome 4 skos:exactMatch MONDO:0012472 semapv:UnspecifiedMatching +OMIM:610334 TMEM176A skos:exactMatch hgnc.symbol:24930 semapv:UnspecifiedMatching +OMIM:610334 TMEM176A skos:exactMatch hgnc.symbol:TMEM176A semapv:UnspecifiedMatching +OMIM:610334 TMEM176A skos:exactMatch ncbigene:55365 semapv:UnspecifiedMatching +OMIM:610335 PHF20 skos:exactMatch hgnc.symbol:16098 semapv:UnspecifiedMatching +OMIM:610335 PHF20 skos:exactMatch hgnc.symbol:PHF20 semapv:UnspecifiedMatching +OMIM:610335 PHF20 skos:exactMatch ncbigene:51230 semapv:UnspecifiedMatching +OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:29417 semapv:UnspecifiedMatching +OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:C2CD4C semapv:UnspecifiedMatching +OMIM:610336 C2CD4C skos:exactMatch ncbigene:126567 semapv:UnspecifiedMatching +OMIM:610337 URGCP skos:exactMatch hgnc.symbol:30890 semapv:UnspecifiedMatching +OMIM:610337 URGCP skos:exactMatch hgnc.symbol:URGCP semapv:UnspecifiedMatching +OMIM:610337 URGCP skos:exactMatch ncbigene:55665 semapv:UnspecifiedMatching +OMIM:610338 right pulmonary artery, anomalous origin of, familial skos:exactMatch MONDO:0012473 semapv:UnspecifiedMatching +OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:19316 semapv:UnspecifiedMatching +OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:P3H1 semapv:UnspecifiedMatching +OMIM:610339 P3H1 skos:exactMatch ncbigene:64175 semapv:UnspecifiedMatching +OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:19818 semapv:UnspecifiedMatching +OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:EPB41L4B semapv:UnspecifiedMatching +OMIM:610340 EPB41L4B skos:exactMatch ncbigene:54566 semapv:UnspecifiedMatching +OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:19317 semapv:UnspecifiedMatching +OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:P3H2 semapv:UnspecifiedMatching +OMIM:610341 P3H2 skos:exactMatch ncbigene:55214 semapv:UnspecifiedMatching +OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:19318 semapv:UnspecifiedMatching +OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:P3H3 semapv:UnspecifiedMatching +OMIM:610342 P3H3 skos:exactMatch ncbigene:10536 semapv:UnspecifiedMatching +OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:33627 semapv:UnspecifiedMatching +OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:C2CD4A semapv:UnspecifiedMatching +OMIM:610343 C2CD4A skos:exactMatch ncbigene:145741 semapv:UnspecifiedMatching +OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:33628 semapv:UnspecifiedMatching +OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:C2CD4B semapv:UnspecifiedMatching +OMIM:610344 C2CD4B skos:exactMatch ncbigene:388125 semapv:UnspecifiedMatching +OMIM:610345 AGK skos:exactMatch hgnc.symbol:21869 semapv:UnspecifiedMatching +OMIM:610345 AGK skos:exactMatch hgnc.symbol:AGK semapv:UnspecifiedMatching +OMIM:610345 AGK skos:exactMatch ncbigene:55750 semapv:UnspecifiedMatching +OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:17179 semapv:UnspecifiedMatching +OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:CDC37L1 semapv:UnspecifiedMatching +OMIM:610346 CDC37L1 skos:exactMatch ncbigene:55664 semapv:UnspecifiedMatching +OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:25560 semapv:UnspecifiedMatching +OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:RPRD1A semapv:UnspecifiedMatching +OMIM:610347 RPRD1A skos:exactMatch ncbigene:55197 semapv:UnspecifiedMatching +OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:17814 semapv:UnspecifiedMatching +OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:SLF2 semapv:UnspecifiedMatching +OMIM:610348 SLF2 skos:exactMatch ncbigene:55719 semapv:UnspecifiedMatching +OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:26689 semapv:UnspecifiedMatching +OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:MAMSTR semapv:UnspecifiedMatching +OMIM:610349 MAMSTR skos:exactMatch ncbigene:284358 semapv:UnspecifiedMatching +OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:30922 semapv:UnspecifiedMatching +OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:LINS1 semapv:UnspecifiedMatching +OMIM:610350 LINS1 skos:exactMatch ncbigene:55180 semapv:UnspecifiedMatching +OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:20219 semapv:UnspecifiedMatching +OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:PPP4R3A semapv:UnspecifiedMatching +OMIM:610351 PPP4R3A skos:exactMatch ncbigene:55671 semapv:UnspecifiedMatching +OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:29267 semapv:UnspecifiedMatching +OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:PPP4R3B semapv:UnspecifiedMatching +OMIM:610352 PPP4R3B skos:exactMatch ncbigene:57223 semapv:UnspecifiedMatching +OMIM:610353 epilepsy, nocturnal frontal lobe, 4 skos:exactMatch MONDO:0012474 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch UMLS:C1425035 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:17686 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:RIC1 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch ncbigene:57589 semapv:UnspecifiedMatching +OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:26144 semapv:UnspecifiedMatching +OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:PALB2 semapv:UnspecifiedMatching +OMIM:610355 PALB2 skos:exactMatch ncbigene:79728 semapv:UnspecifiedMatching +OMIM:610356 retinal cone dystrophy 3b skos:exactMatch MONDO:0012475 semapv:UnspecifiedMatching +OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch MONDO:0012476 semapv:UnspecifiedMatching +OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch Orphanet:101010 semapv:UnspecifiedMatching +OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching +OMIM:610358 SPCS1 skos:exactMatch UMLS:C1539816 semapv:UnspecifiedMatching +OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:23401 semapv:UnspecifiedMatching +OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:SPCS1 semapv:UnspecifiedMatching +OMIM:610358 SPCS1 skos:exactMatch ncbigene:28972 semapv:UnspecifiedMatching +OMIM:610359 retinitis pigmentosa 33 skos:exactMatch MONDO:0012477 semapv:UnspecifiedMatching +OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:23282 semapv:UnspecifiedMatching +OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:MUC20 semapv:UnspecifiedMatching +OMIM:610360 MUC20 skos:exactMatch ncbigene:200958 semapv:UnspecifiedMatching +OMIM:610361 orofacial cleft 9 skos:exactMatch MONDO:0012478 semapv:UnspecifiedMatching +OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:18286 semapv:UnspecifiedMatching +OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:RAX2 semapv:UnspecifiedMatching +OMIM:610362 RAX2 skos:exactMatch ncbigene:84839 semapv:UnspecifiedMatching +OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:20449 semapv:UnspecifiedMatching +OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:PADI6 semapv:UnspecifiedMatching +OMIM:610363 PADI6 skos:exactMatch ncbigene:353238 semapv:UnspecifiedMatching +OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:23410 semapv:UnspecifiedMatching +OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:TMBIM1 semapv:UnspecifiedMatching +OMIM:610364 TMBIM1 skos:exactMatch ncbigene:64114 semapv:UnspecifiedMatching +OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:14324 semapv:UnspecifiedMatching +OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:C1QTNF1 semapv:UnspecifiedMatching +OMIM:610365 C1QTNF1 skos:exactMatch ncbigene:114897 semapv:UnspecifiedMatching +OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:569 semapv:UnspecifiedMatching +OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:AP3M1 semapv:UnspecifiedMatching +OMIM:610366 AP3M1 skos:exactMatch ncbigene:26985 semapv:UnspecifiedMatching +OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:14239 semapv:UnspecifiedMatching +OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:SLC2A11 semapv:UnspecifiedMatching +OMIM:610367 SLC2A11 skos:exactMatch ncbigene:66035 semapv:UnspecifiedMatching +OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:20309 semapv:UnspecifiedMatching +OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:LRCH1 semapv:UnspecifiedMatching +OMIM:610368 LRCH1 skos:exactMatch ncbigene:23143 semapv:UnspecifiedMatching +OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:29526 semapv:UnspecifiedMatching +OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:HSPA14 semapv:UnspecifiedMatching +OMIM:610369 HSPA14 skos:exactMatch ncbigene:51182 semapv:UnspecifiedMatching +OMIM:610370 diarrhea 4, malabsorptive, congenital skos:exactMatch MONDO:0012479 semapv:UnspecifiedMatching +OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:13445 semapv:UnspecifiedMatching +OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:SLC2A7 semapv:UnspecifiedMatching +OMIM:610371 SLC2A7 skos:exactMatch ncbigene:155184 semapv:UnspecifiedMatching +OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:18067 semapv:UnspecifiedMatching +OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:SLC2A12 semapv:UnspecifiedMatching +OMIM:610372 SLC2A12 skos:exactMatch ncbigene:154091 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch UMLS:C1425165 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:17906 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:DDX50 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch ncbigene:79009 semapv:UnspecifiedMatching +OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch MONDO:0012480 semapv:UnspecifiedMatching +OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching +OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching +OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:21259 semapv:UnspecifiedMatching +OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:CAPRIN2 semapv:UnspecifiedMatching +OMIM:610375 CAPRIN2 skos:exactMatch ncbigene:65981 semapv:UnspecifiedMatching +OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:23692 semapv:UnspecifiedMatching +OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:ACKR3 semapv:UnspecifiedMatching +OMIM:610376 ACKR3 skos:exactMatch ncbigene:57007 semapv:UnspecifiedMatching +OMIM:610377 mevalonic aciduria skos:exactMatch MONDO:0012481 semapv:UnspecifiedMatching +OMIM:610377 mevalonic aciduria skos:exactMatch Orphanet:29 semapv:UnspecifiedMatching +OMIM:610377 mevalonic aciduria skos:exactMatch UMLS:C1959626 semapv:UnspecifiedMatching +OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:29525 semapv:UnspecifiedMatching +OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:GLIS1 semapv:UnspecifiedMatching +OMIM:610378 GLIS1 skos:exactMatch ncbigene:148979 semapv:UnspecifiedMatching +OMIM:610379 west nile virus, susceptibility to skos:exactMatch MONDO:0012482 semapv:UnspecifiedMatching +OMIM:610381 cone-rod dystrophy 11 skos:exactMatch MONDO:0012483 semapv:UnspecifiedMatching +OMIM:610382 prosopagnosia, hereditary skos:exactMatch MONDO:0012484 semapv:UnspecifiedMatching +OMIM:610383 RASSF9 skos:exactMatch hgnc.symbol:15739 semapv:UnspecifiedMatching +OMIM:610383 RASSF9 skos:exactMatch hgnc.symbol:RASSF9 semapv:UnspecifiedMatching +OMIM:610383 RASSF9 skos:exactMatch ncbigene:9182 semapv:UnspecifiedMatching +OMIM:610384 HECW1 skos:exactMatch hgnc.symbol:22195 semapv:UnspecifiedMatching +OMIM:610384 HECW1 skos:exactMatch hgnc.symbol:HECW1 semapv:UnspecifiedMatching +OMIM:610384 HECW1 skos:exactMatch ncbigene:23072 semapv:UnspecifiedMatching +OMIM:610385 LR8 skos:exactMatch hgnc.symbol:29596 semapv:UnspecifiedMatching +OMIM:610385 LR8 skos:exactMatch hgnc.symbol:TMEM176B semapv:UnspecifiedMatching +OMIM:610385 LR8 skos:exactMatch ncbigene:28959 semapv:UnspecifiedMatching +OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:18269 semapv:UnspecifiedMatching +OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:BTBD7 semapv:UnspecifiedMatching +OMIM:610386 BTBD7 skos:exactMatch ncbigene:55727 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch UMLS:C1835863 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:29786 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:SLC25A37 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch ncbigene:51312 semapv:UnspecifiedMatching +OMIM:610388 REM1 skos:exactMatch UMLS:C1538825 semapv:UnspecifiedMatching +OMIM:610388 REM1 skos:exactMatch hgnc.symbol:15922 semapv:UnspecifiedMatching +OMIM:610388 REM1 skos:exactMatch hgnc.symbol:REM1 semapv:UnspecifiedMatching +OMIM:610388 REM1 skos:exactMatch ncbigene:28954 semapv:UnspecifiedMatching +OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:29796 semapv:UnspecifiedMatching +OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:LAMTOR2 semapv:UnspecifiedMatching +OMIM:610389 LAMTOR2 skos:exactMatch ncbigene:28956 semapv:UnspecifiedMatching +OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:29619 semapv:UnspecifiedMatching +OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:MPEG1 semapv:UnspecifiedMatching +OMIM:610390 MPEG1 skos:exactMatch ncbigene:219972 semapv:UnspecifiedMatching +OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:23497 semapv:UnspecifiedMatching +OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:PLPPR3 semapv:UnspecifiedMatching +OMIM:610391 PLPPR3 skos:exactMatch ncbigene:79948 semapv:UnspecifiedMatching +OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:23386 semapv:UnspecifiedMatching +OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:MYCBP2 semapv:UnspecifiedMatching +OMIM:610392 MYCBP2 skos:exactMatch ncbigene:23077 semapv:UnspecifiedMatching +OMIM:610393 GON4L skos:exactMatch hgnc.symbol:25973 semapv:UnspecifiedMatching +OMIM:610393 GON4L skos:exactMatch hgnc.symbol:GON4L semapv:UnspecifiedMatching +OMIM:610393 GON4L skos:exactMatch ncbigene:54856 semapv:UnspecifiedMatching +OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:28592 semapv:UnspecifiedMatching +OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:GLIPR1L2 semapv:UnspecifiedMatching +OMIM:610394 GLIPR1L2 skos:exactMatch ncbigene:144321 semapv:UnspecifiedMatching +OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:28392 semapv:UnspecifiedMatching +OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:GLIPR1L1 semapv:UnspecifiedMatching +OMIM:610395 GLIPR1L1 skos:exactMatch ncbigene:256710 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C1427890 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:23069 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:TRAPPC6A semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch ncbigene:79090 semapv:UnspecifiedMatching +OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:23066 semapv:UnspecifiedMatching +OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:TRAPPC6B semapv:UnspecifiedMatching +OMIM:610397 TRAPPC6B skos:exactMatch ncbigene:122553 semapv:UnspecifiedMatching +OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:25663 semapv:UnspecifiedMatching +OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:SAP30L semapv:UnspecifiedMatching +OMIM:610398 SAP30L skos:exactMatch ncbigene:79685 semapv:UnspecifiedMatching +OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:24465 semapv:UnspecifiedMatching +OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:TMPRSS11E semapv:UnspecifiedMatching +OMIM:610399 TMPRSS11E skos:exactMatch ncbigene:28983 semapv:UnspecifiedMatching +OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:29598 semapv:UnspecifiedMatching +OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:MACROD1 semapv:UnspecifiedMatching +OMIM:610400 MACROD1 skos:exactMatch ncbigene:28992 semapv:UnspecifiedMatching +OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:13658 semapv:UnspecifiedMatching +OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:NTN4 semapv:UnspecifiedMatching +OMIM:610401 NTN4 skos:exactMatch ncbigene:59277 semapv:UnspecifiedMatching +OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:30689 semapv:UnspecifiedMatching +OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:CAND2 semapv:UnspecifiedMatching +OMIM:610403 CAND2 skos:exactMatch ncbigene:23066 semapv:UnspecifiedMatching +OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:25764 semapv:UnspecifiedMatching +OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:RMI1 semapv:UnspecifiedMatching +OMIM:610404 RMI1 skos:exactMatch ncbigene:80010 semapv:UnspecifiedMatching +OMIM:610405 CHPF skos:exactMatch hgnc.symbol:24291 semapv:UnspecifiedMatching +OMIM:610405 CHPF skos:exactMatch hgnc.symbol:CHPF semapv:UnspecifiedMatching +OMIM:610405 CHPF skos:exactMatch ncbigene:79586 semapv:UnspecifiedMatching +OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:12343 semapv:UnspecifiedMatching +OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:TRR-TCT2-1 semapv:UnspecifiedMatching +OMIM:610406 TRR-TCT2-1 skos:exactMatch ncbigene:7230 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch UMLS:C1421118 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:12273 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:TRG-GCC2-6 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch ncbigene:7196 semapv:UnspecifiedMatching +OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:18068 semapv:UnspecifiedMatching +OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:SLC15A3 semapv:UnspecifiedMatching +OMIM:610408 SLC15A3 skos:exactMatch ncbigene:51296 semapv:UnspecifiedMatching +OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:16270 semapv:UnspecifiedMatching +OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:SLC16A8 semapv:UnspecifiedMatching +OMIM:610409 SLC16A8 skos:exactMatch ncbigene:23539 semapv:UnspecifiedMatching +OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:16445 semapv:UnspecifiedMatching +OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:DHRS1 semapv:UnspecifiedMatching +OMIM:610410 DHRS1 skos:exactMatch ncbigene:115817 semapv:UnspecifiedMatching +OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:16853 semapv:UnspecifiedMatching +OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:IPO13 semapv:UnspecifiedMatching +OMIM:610411 IPO13 skos:exactMatch ncbigene:9670 semapv:UnspecifiedMatching +OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:24045 semapv:UnspecifiedMatching +OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:SPTSSB semapv:UnspecifiedMatching +OMIM:610412 SPTSSB skos:exactMatch ncbigene:165679 semapv:UnspecifiedMatching +OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:20081 semapv:UnspecifiedMatching +OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:IGFBPL1 semapv:UnspecifiedMatching +OMIM:610413 IGFBPL1 skos:exactMatch ncbigene:347252 semapv:UnspecifiedMatching +OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:28791 semapv:UnspecifiedMatching +OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:NBPF15 semapv:UnspecifiedMatching +OMIM:610414 NBPF15 skos:exactMatch ncbigene:284565 semapv:UnspecifiedMatching +OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:19694 semapv:UnspecifiedMatching +OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:STXBP4 semapv:UnspecifiedMatching +OMIM:610415 STXBP4 skos:exactMatch ncbigene:252983 semapv:UnspecifiedMatching +OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:10566 semapv:UnspecifiedMatching +OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:SCAND1 semapv:UnspecifiedMatching +OMIM:610416 SCAND1 skos:exactMatch ncbigene:51282 semapv:UnspecifiedMatching +OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:10567 semapv:UnspecifiedMatching +OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:SCAND2P semapv:UnspecifiedMatching +OMIM:610417 SCAND2 skos:exactMatch ncbigene:54581 semapv:UnspecifiedMatching +OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:20482 semapv:UnspecifiedMatching +OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:WDFY2 semapv:UnspecifiedMatching +OMIM:610418 WDFY2 skos:exactMatch ncbigene:115825 semapv:UnspecifiedMatching +OMIM:610419 deafness, autosomal recessive 68 skos:exactMatch MONDO:0012485 semapv:UnspecifiedMatching +OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch MONDO:0012486 semapv:UnspecifiedMatching +OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:18117 semapv:UnspecifiedMatching +OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:KHDRBS3 semapv:UnspecifiedMatching +OMIM:610421 KHDRBS3 skos:exactMatch ncbigene:10656 semapv:UnspecifiedMatching +OMIM:610422 alopecia-intellectual disability syndrome 2 skos:exactMatch MONDO:0012487 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch UMLS:C1538564 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:23794 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:PACS2 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch ncbigene:23241 semapv:UnspecifiedMatching +OMIM:610424 hepatitis B virus, susceptibility to skos:exactMatch MONDO:0012488 semapv:UnspecifiedMatching +OMIM:610425 cataract 23, multiple types skos:exactMatch MONDO:0012489 semapv:UnspecifiedMatching +OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch MONDO:0012490 semapv:UnspecifiedMatching +OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching +OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching +OMIM:610428 COX18 skos:exactMatch hgnc.symbol:26801 semapv:UnspecifiedMatching +OMIM:610428 COX18 skos:exactMatch hgnc.symbol:COX18 semapv:UnspecifiedMatching +OMIM:610428 COX18 skos:exactMatch ncbigene:285521 semapv:UnspecifiedMatching +OMIM:610429 COX19 skos:exactMatch hgnc.symbol:28074 semapv:UnspecifiedMatching +OMIM:610429 COX19 skos:exactMatch hgnc.symbol:COX19 semapv:UnspecifiedMatching +OMIM:610429 COX19 skos:exactMatch ncbigene:90639 semapv:UnspecifiedMatching +OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 skos:exactMatch MONDO:0012491 semapv:UnspecifiedMatching +OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:24544 semapv:UnspecifiedMatching +OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:RNF167 semapv:UnspecifiedMatching +OMIM:610431 RNF167 skos:exactMatch ncbigene:26001 semapv:UnspecifiedMatching +OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:21150 semapv:UnspecifiedMatching +OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:RNF125 semapv:UnspecifiedMatching +OMIM:610432 RNF125 skos:exactMatch ncbigene:54941 semapv:UnspecifiedMatching +OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:13931 semapv:UnspecifiedMatching +OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:LY6G5B semapv:UnspecifiedMatching +OMIM:610433 LY6G5B skos:exactMatch ncbigene:58496 semapv:UnspecifiedMatching +OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:13932 semapv:UnspecifiedMatching +OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:LY6G5C semapv:UnspecifiedMatching +OMIM:610434 LY6G5C skos:exactMatch ncbigene:80741 semapv:UnspecifiedMatching +OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:13936 semapv:UnspecifiedMatching +OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:LY6G6C semapv:UnspecifiedMatching +OMIM:610435 LY6G6C skos:exactMatch ncbigene:80740 semapv:UnspecifiedMatching +OMIM:610436 RTTN skos:exactMatch hgnc.symbol:18654 semapv:UnspecifiedMatching +OMIM:610436 RTTN skos:exactMatch hgnc.symbol:RTTN semapv:UnspecifiedMatching +OMIM:610436 RTTN skos:exactMatch ncbigene:25914 semapv:UnspecifiedMatching +OMIM:610437 LY6G6E skos:exactMatch UMLS:C1422282 semapv:UnspecifiedMatching +OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:13934 semapv:UnspecifiedMatching +OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:LY6G6E semapv:UnspecifiedMatching +OMIM:610437 LY6G6E skos:exactMatch ncbigene:79136 semapv:UnspecifiedMatching +OMIM:610438 restless legs syndrome, susceptibility to, 3 skos:exactMatch MONDO:0012492 semapv:UnspecifiedMatching +OMIM:610439 restless legs syndrome, susceptibility to, 4 skos:exactMatch MONDO:0012493 semapv:UnspecifiedMatching +OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:25228 semapv:UnspecifiedMatching +OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:SGSM3 semapv:UnspecifiedMatching +OMIM:610440 SGSM3 skos:exactMatch ncbigene:27352 semapv:UnspecifiedMatching +OMIM:610441 testicular microlithiasis skos:exactMatch MONDO:0012494 semapv:UnspecifiedMatching +OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia skos:exactMatch MONDO:0012495 semapv:UnspecifiedMatching +OMIM:610443 koolen-de vries syndrome skos:exactMatch MONDO:0012496 semapv:UnspecifiedMatching +OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:363958 semapv:UnspecifiedMatching +OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:96169 semapv:UnspecifiedMatching +OMIM:610443 koolen-de vries syndrome skos:exactMatch UMLS:C1864871 semapv:UnspecifiedMatching +OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 skos:exactMatch MONDO:0012497 semapv:UnspecifiedMatching +OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 skos:exactMatch MONDO:0012498 semapv:UnspecifiedMatching +OMIM:610446 buruli ulcer, susceptibility to skos:exactMatch MONDO:0012499 semapv:UnspecifiedMatching +OMIM:610447 SPRN skos:exactMatch hgnc.symbol:16871 semapv:UnspecifiedMatching +OMIM:610447 SPRN skos:exactMatch hgnc.symbol:SPRN semapv:UnspecifiedMatching +OMIM:610447 SPRN skos:exactMatch ncbigene:503542 semapv:UnspecifiedMatching +OMIM:610448 chilblain lupus 1 skos:exactMatch MONDO:0012500 semapv:UnspecifiedMatching +OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:17586 semapv:UnspecifiedMatching +OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:MTCH1 semapv:UnspecifiedMatching +OMIM:610449 MTCH1 skos:exactMatch ncbigene:23787 semapv:UnspecifiedMatching +OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:28431 semapv:UnspecifiedMatching +OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:LYPD1 semapv:UnspecifiedMatching +OMIM:610450 LYPD1 skos:exactMatch ncbigene:116372 semapv:UnspecifiedMatching +OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:28115 semapv:UnspecifiedMatching +OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:TBCEL semapv:UnspecifiedMatching +OMIM:610451 LRRC35 skos:exactMatch ncbigene:219899 semapv:UnspecifiedMatching +OMIM:610452 mutagen sensitivity skos:exactMatch MONDO:0012501 semapv:UnspecifiedMatching +OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:26527 semapv:UnspecifiedMatching +OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:HGSNAT semapv:UnspecifiedMatching +OMIM:610453 HGSNAT skos:exactMatch ncbigene:138050 semapv:UnspecifiedMatching +OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:29381 semapv:UnspecifiedMatching +OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:LZTS2 semapv:UnspecifiedMatching +OMIM:610454 LZTS2 skos:exactMatch ncbigene:84445 semapv:UnspecifiedMatching +OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch MONDO:0012502 semapv:UnspecifiedMatching +OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:306658 semapv:UnspecifiedMatching +OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching +OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C1539722 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:1348 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:SAMD9 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch ncbigene:54809 semapv:UnspecifiedMatching +OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:32949 semapv:UnspecifiedMatching +OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:SMPD4 semapv:UnspecifiedMatching +OMIM:610457 SMPD4 skos:exactMatch ncbigene:55627 semapv:UnspecifiedMatching +OMIM:610458 LZIC skos:exactMatch hgnc.symbol:17497 semapv:UnspecifiedMatching +OMIM:610458 LZIC skos:exactMatch hgnc.symbol:LZIC semapv:UnspecifiedMatching +OMIM:610458 LZIC skos:exactMatch ncbigene:84328 semapv:UnspecifiedMatching +OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:24528 semapv:UnspecifiedMatching +OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:PRR13 semapv:UnspecifiedMatching +OMIM:610459 PRR13 skos:exactMatch ncbigene:54458 semapv:UnspecifiedMatching +OMIM:610460 thiopurines, poor metabolism of, 1 skos:exactMatch MONDO:0012503 semapv:UnspecifiedMatching +OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:21329 semapv:UnspecifiedMatching +OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:RTN4RL1 semapv:UnspecifiedMatching +OMIM:610461 RTN4RL1 skos:exactMatch ncbigene:146760 semapv:UnspecifiedMatching +OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:23053 semapv:UnspecifiedMatching +OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:RTN4RL2 semapv:UnspecifiedMatching +OMIM:610462 RTN4RL2 skos:exactMatch ncbigene:349667 semapv:UnspecifiedMatching +OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:21042 semapv:UnspecifiedMatching +OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:NUS1 semapv:UnspecifiedMatching +OMIM:610463 NUS1 skos:exactMatch ncbigene:116150 semapv:UnspecifiedMatching +OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:20844 semapv:UnspecifiedMatching +OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:GPR156 semapv:UnspecifiedMatching +OMIM:610464 GPR156 skos:exactMatch ncbigene:165829 semapv:UnspecifiedMatching +OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:26101 semapv:UnspecifiedMatching +OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:ACSF2 semapv:UnspecifiedMatching +OMIM:610465 ACSF2 skos:exactMatch ncbigene:80221 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch UMLS:C1537580 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:18581 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:LIX1 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch ncbigene:167410 semapv:UnspecifiedMatching +OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:9639 semapv:UnspecifiedMatching +OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:HACD1 semapv:UnspecifiedMatching +OMIM:610467 HACD1 skos:exactMatch ncbigene:9200 semapv:UnspecifiedMatching +OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:16938 semapv:UnspecifiedMatching +OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:IFI44 semapv:UnspecifiedMatching +OMIM:610468 IFI44 skos:exactMatch ncbigene:10561 semapv:UnspecifiedMatching +OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:570 semapv:UnspecifiedMatching +OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:AP3M2 semapv:UnspecifiedMatching +OMIM:610469 AP3M2 skos:exactMatch ncbigene:10947 semapv:UnspecifiedMatching +OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:20316 semapv:UnspecifiedMatching +OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:TRPT1 semapv:UnspecifiedMatching +OMIM:610470 TRPT1 skos:exactMatch ncbigene:83707 semapv:UnspecifiedMatching +OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:25723 semapv:UnspecifiedMatching +OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:VASH2 semapv:UnspecifiedMatching +OMIM:610471 VASH2 skos:exactMatch ncbigene:79805 semapv:UnspecifiedMatching +OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:25718 semapv:UnspecifiedMatching +OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:LPCAT1 semapv:UnspecifiedMatching +OMIM:610472 AYTL2 skos:exactMatch ncbigene:79888 semapv:UnspecifiedMatching +OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:28985 semapv:UnspecifiedMatching +OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:LPGAT1 semapv:UnspecifiedMatching +OMIM:610473 LPGAT1 skos:exactMatch ncbigene:9926 semapv:UnspecifiedMatching +OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome skos:exactMatch MONDO:0012504 semapv:UnspecifiedMatching +OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch MONDO:0012505 semapv:UnspecifiedMatching +OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 skos:exactMatch MONDO:0012506 semapv:UnspecifiedMatching +OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:30079 semapv:UnspecifiedMatching +OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:TMPRSS9 semapv:UnspecifiedMatching +OMIM:610477 TMPRSS9 skos:exactMatch ncbigene:360200 semapv:UnspecifiedMatching +OMIM:610478 retinal cone dystrophy 4 skos:exactMatch MONDO:0012507 semapv:UnspecifiedMatching +OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:26333 semapv:UnspecifiedMatching +OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:SRFBP1 semapv:UnspecifiedMatching +OMIM:610479 SRFBP1 skos:exactMatch ncbigene:153443 semapv:UnspecifiedMatching +OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:18725 semapv:UnspecifiedMatching +OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:LEMD1 semapv:UnspecifiedMatching +OMIM:610480 LEMD1 skos:exactMatch ncbigene:93273 semapv:UnspecifiedMatching +OMIM:610481 SHD skos:exactMatch hgnc.symbol:30633 semapv:UnspecifiedMatching +OMIM:610481 SHD skos:exactMatch hgnc.symbol:SHD semapv:UnspecifiedMatching +OMIM:610481 SHD skos:exactMatch ncbigene:56961 semapv:UnspecifiedMatching +OMIM:610482 SHE skos:exactMatch hgnc.symbol:27004 semapv:UnspecifiedMatching +OMIM:610482 SHE skos:exactMatch hgnc.symbol:SHE semapv:UnspecifiedMatching +OMIM:610482 SHE skos:exactMatch ncbigene:126669 semapv:UnspecifiedMatching +OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis skos:exactMatch MONDO:0012508 semapv:UnspecifiedMatching +OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:30139 semapv:UnspecifiedMatching +OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:LZTS3 semapv:UnspecifiedMatching +OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch ncbigene:9762 semapv:UnspecifiedMatching +OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:6662 semapv:UnspecifiedMatching +OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:LINC00312 semapv:UnspecifiedMatching +OMIM:610485 LINC00312 skos:exactMatch ncbigene:29931 semapv:UnspecifiedMatching +OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:15586 semapv:UnspecifiedMatching +OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:LRRC4 semapv:UnspecifiedMatching +OMIM:610486 LRRC4 skos:exactMatch ncbigene:64101 semapv:UnspecifiedMatching +OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:18114 semapv:UnspecifiedMatching +OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:KHDRBS2 semapv:UnspecifiedMatching +OMIM:610487 KHDRBS2 skos:exactMatch ncbigene:202559 semapv:UnspecifiedMatching +OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:20267 semapv:UnspecifiedMatching +OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:TTC9 semapv:UnspecifiedMatching +OMIM:610488 TTC9 skos:exactMatch ncbigene:23508 semapv:UnspecifiedMatching +OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch MONDO:0012509 semapv:UnspecifiedMatching +OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:33781 semapv:UnspecifiedMatching +OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:ACP7 semapv:UnspecifiedMatching +OMIM:610490 purple acid phosphatase, long form skos:exactMatch ncbigene:390928 semapv:UnspecifiedMatching +OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:26387 semapv:UnspecifiedMatching +OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:SLAIN1 semapv:UnspecifiedMatching +OMIM:610491 SLAIN1 skos:exactMatch ncbigene:122060 semapv:UnspecifiedMatching +OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:29282 semapv:UnspecifiedMatching +OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:SLAIN2 semapv:UnspecifiedMatching +OMIM:610492 SLAIN2 skos:exactMatch ncbigene:57606 semapv:UnspecifiedMatching +OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:23695 semapv:UnspecifiedMatching +OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:DIXDC1 semapv:UnspecifiedMatching +OMIM:610493 DIXDC1 skos:exactMatch ncbigene:85458 semapv:UnspecifiedMatching +OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:30002 semapv:UnspecifiedMatching +OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:DCAF6 semapv:UnspecifiedMatching +OMIM:610494 DCAF6 skos:exactMatch ncbigene:55827 semapv:UnspecifiedMatching +OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:24970 semapv:UnspecifiedMatching +OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:IFFO1 semapv:UnspecifiedMatching +OMIM:610495 IFFO1 skos:exactMatch ncbigene:25900 semapv:UnspecifiedMatching +OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:30207 semapv:UnspecifiedMatching +OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:ARHGAP29 semapv:UnspecifiedMatching +OMIM:610496 ARHGAP29 skos:exactMatch ncbigene:9411 semapv:UnspecifiedMatching +OMIM:610497 BRE skos:exactMatch hgnc.symbol:1106 semapv:UnspecifiedMatching +OMIM:610497 BRE skos:exactMatch hgnc.symbol:BABAM2 semapv:UnspecifiedMatching +OMIM:610497 BRE skos:exactMatch ncbigene:9577 semapv:UnspecifiedMatching +OMIM:610498 combined oxidative phosphorylation deficiency 2 skos:exactMatch MONDO:0012510 semapv:UnspecifiedMatching +OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:20655 semapv:UnspecifiedMatching +OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:RAPGEF6 semapv:UnspecifiedMatching +OMIM:610499 RAPGEF6 skos:exactMatch ncbigene:51735 semapv:UnspecifiedMatching +OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:24714 semapv:UnspecifiedMatching +OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:ANKHD1 semapv:UnspecifiedMatching +OMIM:610500 ANKHD1 skos:exactMatch ncbigene:54882 semapv:UnspecifiedMatching +OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:26088 semapv:UnspecifiedMatching +OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:NBPF1 semapv:UnspecifiedMatching +OMIM:610501 NBPF1 skos:exactMatch ncbigene:55672 semapv:UnspecifiedMatching +OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:18647 semapv:UnspecifiedMatching +OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:RTN4IP1 semapv:UnspecifiedMatching +OMIM:610502 RTN4IP1 skos:exactMatch ncbigene:84816 semapv:UnspecifiedMatching +OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:13234 semapv:UnspecifiedMatching +OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:CDIP1 semapv:UnspecifiedMatching +OMIM:610503 CDIP1 skos:exactMatch ncbigene:29965 semapv:UnspecifiedMatching +OMIM:610504 preterm premature rupture of the membranes skos:exactMatch MONDO:0012511 semapv:UnspecifiedMatching +OMIM:610505 combined oxidative phosphorylation deficiency 3 skos:exactMatch MONDO:0012512 semapv:UnspecifiedMatching +OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:25459 semapv:UnspecifiedMatching +OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:PAF1 semapv:UnspecifiedMatching +OMIM:610506 PAF1 skos:exactMatch ncbigene:54623 semapv:UnspecifiedMatching +OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:30401 semapv:UnspecifiedMatching +OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:LEO1 semapv:UnspecifiedMatching +OMIM:610507 LEO1 skos:exactMatch ncbigene:123169 semapv:UnspecifiedMatching +OMIM:610508 maturity-onset diabetes of the young, iia 7 skos:exactMatch MONDO:0012513 semapv:UnspecifiedMatching +OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:30338 semapv:UnspecifiedMatching +OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:RIC3 semapv:UnspecifiedMatching +OMIM:610509 RIC3 skos:exactMatch ncbigene:79608 semapv:UnspecifiedMatching +OMIM:610510 BORA skos:exactMatch hgnc.symbol:24724 semapv:UnspecifiedMatching +OMIM:610510 BORA skos:exactMatch hgnc.symbol:BORA semapv:UnspecifiedMatching +OMIM:610510 BORA skos:exactMatch ncbigene:79866 semapv:UnspecifiedMatching +OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:10701 semapv:UnspecifiedMatching +OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:SEC23A semapv:UnspecifiedMatching +OMIM:610511 SEC23A skos:exactMatch ncbigene:10484 semapv:UnspecifiedMatching +OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:10702 semapv:UnspecifiedMatching +OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:SEC23B semapv:UnspecifiedMatching +OMIM:610512 SEC23B skos:exactMatch ncbigene:10483 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1540215 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:30213 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:ATP13A2 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch ncbigene:23400 semapv:UnspecifiedMatching +OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:30027 semapv:UnspecifiedMatching +OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:JADE1 semapv:UnspecifiedMatching +OMIM:610514 PHF17 skos:exactMatch ncbigene:79960 semapv:UnspecifiedMatching +OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:22984 semapv:UnspecifiedMatching +OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:JADE2 semapv:UnspecifiedMatching +OMIM:610515 PHF15 skos:exactMatch ncbigene:23338 semapv:UnspecifiedMatching +OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:24247 semapv:UnspecifiedMatching +OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:GLYCTK semapv:UnspecifiedMatching +OMIM:610516 GLYCTK skos:exactMatch ncbigene:132158 semapv:UnspecifiedMatching +OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:13834 semapv:UnspecifiedMatching +OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:CNTNAP3 semapv:UnspecifiedMatching +OMIM:610517 CNTNAP3 skos:exactMatch ncbigene:79937 semapv:UnspecifiedMatching +OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:18747 semapv:UnspecifiedMatching +OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:CNTNAP4 semapv:UnspecifiedMatching +OMIM:610518 CNTNAP4 skos:exactMatch ncbigene:85445 semapv:UnspecifiedMatching +OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:18748 semapv:UnspecifiedMatching +OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:CNTNAP5 semapv:UnspecifiedMatching +OMIM:610519 CNTNAP5 skos:exactMatch ncbigene:129684 semapv:UnspecifiedMatching +OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:30455 semapv:UnspecifiedMatching +OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:CD300LG semapv:UnspecifiedMatching +OMIM:610520 CD300LG skos:exactMatch ncbigene:146894 semapv:UnspecifiedMatching +OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:14678 semapv:UnspecifiedMatching +OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:KCTD12 semapv:UnspecifiedMatching +OMIM:610521 KCTD12 skos:exactMatch ncbigene:115207 semapv:UnspecifiedMatching +OMIM:610522 coordinated expression to irxa2 skos:exactMatch hgnc.symbol:IRX2-DT semapv:UnspecifiedMatching +OMIM:610522 coordinated expression to irxa2 skos:exactMatch ncbigene:153571 semapv:UnspecifiedMatching +OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:12370 semapv:UnspecifiedMatching +OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:CEP41 semapv:UnspecifiedMatching +OMIM:610523 CEP41 skos:exactMatch ncbigene:95681 semapv:UnspecifiedMatching +OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:33823 semapv:UnspecifiedMatching +OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:ERVFRD-1 semapv:UnspecifiedMatching +OMIM:610524 ERVFRD1 skos:exactMatch ncbigene:405754 semapv:UnspecifiedMatching +OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:17819 semapv:UnspecifiedMatching +OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:NT5C1A semapv:UnspecifiedMatching +OMIM:610525 NT5C1A skos:exactMatch ncbigene:84618 semapv:UnspecifiedMatching +OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:17818 semapv:UnspecifiedMatching +OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:NT5C1B semapv:UnspecifiedMatching +OMIM:610526 NT5C1B skos:exactMatch ncbigene:93034 semapv:UnspecifiedMatching +OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:15487 semapv:UnspecifiedMatching +OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:TMX1 semapv:UnspecifiedMatching +OMIM:610527 TXNDC1 skos:exactMatch ncbigene:81542 semapv:UnspecifiedMatching +OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:20153 semapv:UnspecifiedMatching +OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:CHD8 semapv:UnspecifiedMatching +OMIM:610528 CHD8 skos:exactMatch ncbigene:57680 semapv:UnspecifiedMatching +OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:31010 semapv:UnspecifiedMatching +OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:TUSC1 semapv:UnspecifiedMatching +OMIM:610529 TUSC1 skos:exactMatch ncbigene:286319 semapv:UnspecifiedMatching +OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:19013 semapv:UnspecifiedMatching +OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:TRIM41 semapv:UnspecifiedMatching +OMIM:610530 TRIM41 skos:exactMatch ncbigene:90933 semapv:UnspecifiedMatching +OMIM:610531 HYCC1 skos:exactMatch hgnc.symbol:HYCC1 semapv:UnspecifiedMatching +OMIM:610531 HYCC1 skos:exactMatch ncbigene:84668 semapv:UnspecifiedMatching +OMIM:610532 leukodystrophy, hypomyelinating, 5 skos:exactMatch MONDO:0012514 semapv:UnspecifiedMatching +OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:29435 semapv:UnspecifiedMatching +OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:WWC1 semapv:UnspecifiedMatching +OMIM:610533 WWC1 skos:exactMatch ncbigene:23286 semapv:UnspecifiedMatching +OMIM:610534 DCPS skos:exactMatch hgnc.symbol:29812 semapv:UnspecifiedMatching +OMIM:610534 DCPS skos:exactMatch hgnc.symbol:DCPS semapv:UnspecifiedMatching +OMIM:610534 DCPS skos:exactMatch ncbigene:28960 semapv:UnspecifiedMatching +OMIM:610535 glaucoma 1, open angle, m skos:exactMatch MONDO:0012515 semapv:UnspecifiedMatching +OMIM:610536 mandibulofacial dysostosis, guion-almeida iia skos:exactMatch MONDO:0012516 semapv:UnspecifiedMatching +OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:14892 semapv:UnspecifiedMatching +OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:DPP7 semapv:UnspecifiedMatching +OMIM:610537 DPP7 skos:exactMatch ncbigene:29952 semapv:UnspecifiedMatching +OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:25009 semapv:UnspecifiedMatching +OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:UBE2T semapv:UnspecifiedMatching +OMIM:610538 UBE2T skos:exactMatch ncbigene:29089 semapv:UnspecifiedMatching +OMIM:610539 gaucher disease, atypical, due to saposin c deficiency skos:exactMatch MONDO:0012517 semapv:UnspecifiedMatching +OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:24872 semapv:UnspecifiedMatching +OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:GNAS-AS1 semapv:UnspecifiedMatching +OMIM:610540 GNASAS1 skos:exactMatch ncbigene:149775 semapv:UnspecifiedMatching +OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:14942 semapv:UnspecifiedMatching +OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:PPP1R3B semapv:UnspecifiedMatching +OMIM:610541 PPP1R3B skos:exactMatch ncbigene:79660 semapv:UnspecifiedMatching +OMIM:610542 myasthenic syndrome, congenital, 12 skos:exactMatch MONDO:0012518 semapv:UnspecifiedMatching +OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal skos:exactMatch MONDO:0012519 semapv:UnspecifiedMatching +OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:24093 semapv:UnspecifiedMatching +OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:IGFL1 semapv:UnspecifiedMatching +OMIM:610544 IGFL1 skos:exactMatch ncbigene:374918 semapv:UnspecifiedMatching +OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:32929 semapv:UnspecifiedMatching +OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:IGFL2 semapv:UnspecifiedMatching +OMIM:610545 IGFL2 skos:exactMatch ncbigene:147920 semapv:UnspecifiedMatching +OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:32930 semapv:UnspecifiedMatching +OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:IGFL3 semapv:UnspecifiedMatching +OMIM:610546 IGFL3 skos:exactMatch ncbigene:388555 semapv:UnspecifiedMatching +OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:32931 semapv:UnspecifiedMatching +OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:IGFL4 semapv:UnspecifiedMatching +OMIM:610547 IGFL4 skos:exactMatch ncbigene:444882 semapv:UnspecifiedMatching +OMIM:610548 AQR skos:exactMatch hgnc.symbol:29513 semapv:UnspecifiedMatching +OMIM:610548 AQR skos:exactMatch hgnc.symbol:AQR semapv:UnspecifiedMatching +OMIM:610548 AQR skos:exactMatch ncbigene:9716 semapv:UnspecifiedMatching +OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans skos:exactMatch MONDO:0012520 semapv:UnspecifiedMatching +OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:6903 semapv:UnspecifiedMatching +OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:MAT1A semapv:UnspecifiedMatching +OMIM:610550 MAT1A skos:exactMatch ncbigene:4143 semapv:UnspecifiedMatching +OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 skos:exactMatch MONDO:0024563 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch UMLS:C1428004 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch UMLS:C4310699 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:23230 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:UBA5 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch ncbigene:79876 semapv:UnspecifiedMatching +OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:20597 semapv:UnspecifiedMatching +OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:UFM1 semapv:UnspecifiedMatching +OMIM:610553 UFM1 skos:exactMatch ncbigene:51569 semapv:UnspecifiedMatching +OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:26941 semapv:UnspecifiedMatching +OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:UFC1 semapv:UnspecifiedMatching +OMIM:610554 UFC1 skos:exactMatch ncbigene:51506 semapv:UnspecifiedMatching +OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:24337 semapv:UnspecifiedMatching +OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:C1GALT1 semapv:UnspecifiedMatching +OMIM:610555 C1GALT1 skos:exactMatch ncbigene:56913 semapv:UnspecifiedMatching +OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:33117 semapv:UnspecifiedMatching +OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:HAR1A semapv:UnspecifiedMatching +OMIM:610556 HAR1A skos:exactMatch ncbigene:768096 semapv:UnspecifiedMatching +OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:33118 semapv:UnspecifiedMatching +OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:HAR1B semapv:UnspecifiedMatching +OMIM:610557 HAR1B skos:exactMatch ncbigene:768097 semapv:UnspecifiedMatching +OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:18752 semapv:UnspecifiedMatching +OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:MAPKAP1 semapv:UnspecifiedMatching +OMIM:610558 MAPKAP1 skos:exactMatch ncbigene:79109 semapv:UnspecifiedMatching +OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:20793 semapv:UnspecifiedMatching +OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:RASSF4 semapv:UnspecifiedMatching +OMIM:610559 RASSF4 skos:exactMatch ncbigene:83937 semapv:UnspecifiedMatching +OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:26906 semapv:UnspecifiedMatching +OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:PRSS36 semapv:UnspecifiedMatching +OMIM:610560 PRSS36 skos:exactMatch ncbigene:146547 semapv:UnspecifiedMatching +OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:34407 semapv:UnspecifiedMatching +OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:PRSS53 semapv:UnspecifiedMatching +OMIM:610561 PRSS53 skos:exactMatch ncbigene:339105 semapv:UnspecifiedMatching +OMIM:610562 ZC3H12A skos:exactMatch UMLS:C1823924 semapv:UnspecifiedMatching +OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:26259 semapv:UnspecifiedMatching +OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:ZC3H12A semapv:UnspecifiedMatching +OMIM:610562 ZC3H12A skos:exactMatch ncbigene:80149 semapv:UnspecifiedMatching +OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:6399 semapv:UnspecifiedMatching +OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:KPNA6 semapv:UnspecifiedMatching +OMIM:610563 KPNA6 skos:exactMatch ncbigene:23633 semapv:UnspecifiedMatching +OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:23041 semapv:UnspecifiedMatching +OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:PDSS2 semapv:UnspecifiedMatching +OMIM:610564 PDSS2 skos:exactMatch ncbigene:57107 semapv:UnspecifiedMatching +OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:2955 semapv:UnspecifiedMatching +OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:DNAL4 semapv:UnspecifiedMatching +OMIM:610565 DNAL4 skos:exactMatch ncbigene:10126 semapv:UnspecifiedMatching +OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:31533 semapv:UnspecifiedMatching +OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:MIR146A semapv:UnspecifiedMatching +OMIM:610566 MIR146A skos:exactMatch ncbigene:406938 semapv:UnspecifiedMatching +OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:32079 semapv:UnspecifiedMatching +OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:MIR146B semapv:UnspecifiedMatching +OMIM:610567 MIR146B skos:exactMatch ncbigene:574447 semapv:UnspecifiedMatching +OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:29277 semapv:UnspecifiedMatching +OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:ZNF687 semapv:UnspecifiedMatching +OMIM:610568 ZNF687 skos:exactMatch ncbigene:57592 semapv:UnspecifiedMatching +OMIM:610569 USP24 skos:exactMatch hgnc.symbol:12623 semapv:UnspecifiedMatching +OMIM:610569 USP24 skos:exactMatch hgnc.symbol:USP24 semapv:UnspecifiedMatching +OMIM:610569 USP24 skos:exactMatch ncbigene:23358 semapv:UnspecifiedMatching +OMIM:610570 USP40 skos:exactMatch hgnc.symbol:20069 semapv:UnspecifiedMatching +OMIM:610570 USP40 skos:exactMatch hgnc.symbol:USP40 semapv:UnspecifiedMatching +OMIM:610570 USP40 skos:exactMatch ncbigene:55230 semapv:UnspecifiedMatching +OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:18624 semapv:UnspecifiedMatching +OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:FKBP11 semapv:UnspecifiedMatching +OMIM:610571 FKBP11 skos:exactMatch ncbigene:51303 semapv:UnspecifiedMatching +OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:26401 semapv:UnspecifiedMatching +OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:MARVELD2 semapv:UnspecifiedMatching +OMIM:610572 MARVELD2 skos:exactMatch ncbigene:153562 semapv:UnspecifiedMatching +OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:16175 semapv:UnspecifiedMatching +OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:RSPO4 semapv:UnspecifiedMatching +OMIM:610573 RSPO4 skos:exactMatch ncbigene:343637 semapv:UnspecifiedMatching +OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:20866 semapv:UnspecifiedMatching +OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:RSPO3 semapv:UnspecifiedMatching +OMIM:610574 RSPO3 skos:exactMatch ncbigene:84870 semapv:UnspecifiedMatching +OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:28583 semapv:UnspecifiedMatching +OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:RSPO2 semapv:UnspecifiedMatching +OMIM:610575 RSPO2 skos:exactMatch ncbigene:340419 semapv:UnspecifiedMatching +OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:14130 semapv:UnspecifiedMatching +OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:ARHGAP9 semapv:UnspecifiedMatching +OMIM:610576 ARHGAP9 skos:exactMatch ncbigene:64333 semapv:UnspecifiedMatching +OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:16348 semapv:UnspecifiedMatching +OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:ARHGAP12 semapv:UnspecifiedMatching +OMIM:610577 ARHGAP12 skos:exactMatch ncbigene:94134 semapv:UnspecifiedMatching +OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:21030 semapv:UnspecifiedMatching +OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:ARHGAP15 semapv:UnspecifiedMatching +OMIM:610578 ARHGAP15 skos:exactMatch ncbigene:55843 semapv:UnspecifiedMatching +OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:28310 semapv:UnspecifiedMatching +OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:RCSD1 semapv:UnspecifiedMatching +OMIM:610579 RCSD1 skos:exactMatch ncbigene:92241 semapv:UnspecifiedMatching +OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:19310 semapv:UnspecifiedMatching +OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:PIM3 semapv:UnspecifiedMatching +OMIM:610580 PIM3 skos:exactMatch ncbigene:415116 semapv:UnspecifiedMatching +OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:2238 semapv:UnspecifiedMatching +OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:COPG2IT1 semapv:UnspecifiedMatching +OMIM:610581 COPG2IT1 skos:exactMatch ncbigene:53844 semapv:UnspecifiedMatching +OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch MONDO:0012522 semapv:UnspecifiedMatching +OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching +OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching +OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:17280 semapv:UnspecifiedMatching +OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:ANKRD6 semapv:UnspecifiedMatching +OMIM:610583 ANKRD6 skos:exactMatch ncbigene:22881 semapv:UnspecifiedMatching +OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:31859 semapv:UnspecifiedMatching +OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:TRIM67 semapv:UnspecifiedMatching +OMIM:610584 TRIM67 skos:exactMatch ncbigene:440730 semapv:UnspecifiedMatching +OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:30320 semapv:UnspecifiedMatching +OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:ARHGAP22 semapv:UnspecifiedMatching +OMIM:610585 ARHGAP22 skos:exactMatch ncbigene:58504 semapv:UnspecifiedMatching +OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:25361 semapv:UnspecifiedMatching +OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:ARHGAP24 semapv:UnspecifiedMatching +OMIM:610586 ARHGAP24 skos:exactMatch ncbigene:83478 semapv:UnspecifiedMatching +OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:28951 semapv:UnspecifiedMatching +OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:ARHGAP25 semapv:UnspecifiedMatching +OMIM:610587 ARHGAP25 skos:exactMatch ncbigene:9938 semapv:UnspecifiedMatching +OMIM:610588 DDN skos:exactMatch hgnc.symbol:24458 semapv:UnspecifiedMatching +OMIM:610588 DDN skos:exactMatch hgnc.symbol:DDN semapv:UnspecifiedMatching +OMIM:610588 DDN skos:exactMatch ncbigene:23109 semapv:UnspecifiedMatching +OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:15783 semapv:UnspecifiedMatching +OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:ARHGAP11A semapv:UnspecifiedMatching +OMIM:610589 ARHGAP11A skos:exactMatch ncbigene:9824 semapv:UnspecifiedMatching +OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:29293 semapv:UnspecifiedMatching +OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:ARHGAP23 semapv:UnspecifiedMatching +OMIM:610590 ARHGAP23 skos:exactMatch ncbigene:57636 semapv:UnspecifiedMatching +OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:31813 semapv:UnspecifiedMatching +OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:ARHGAP27 semapv:UnspecifiedMatching +OMIM:610591 ARHGAP27 skos:exactMatch ncbigene:201176 semapv:UnspecifiedMatching +OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:25509 semapv:UnspecifiedMatching +OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:ARHGAP28 semapv:UnspecifiedMatching +OMIM:610592 ARHGAP28 skos:exactMatch ncbigene:79822 semapv:UnspecifiedMatching +OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:25753 semapv:UnspecifiedMatching +OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:MAP6D1 semapv:UnspecifiedMatching +OMIM:610593 MAP6D1 skos:exactMatch ncbigene:79929 semapv:UnspecifiedMatching +OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:29418 semapv:UnspecifiedMatching +OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:FNIP1 semapv:UnspecifiedMatching +OMIM:610594 FNIP1 skos:exactMatch ncbigene:96459 semapv:UnspecifiedMatching +OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:24671 semapv:UnspecifiedMatching +OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:FLAD1 semapv:UnspecifiedMatching +OMIM:610595 FLAD1 skos:exactMatch ncbigene:80308 semapv:UnspecifiedMatching +OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:15519 semapv:UnspecifiedMatching +OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:BOP1 semapv:UnspecifiedMatching +OMIM:610596 BOP1 skos:exactMatch ncbigene:23246 semapv:UnspecifiedMatching +OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:21270 semapv:UnspecifiedMatching +OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:GRWD1 semapv:UnspecifiedMatching +OMIM:610597 GRWD1 skos:exactMatch ncbigene:83743 semapv:UnspecifiedMatching +OMIM:610598 PRCD skos:exactMatch hgnc.symbol:32528 semapv:UnspecifiedMatching +OMIM:610598 PRCD skos:exactMatch hgnc.symbol:PRCD semapv:UnspecifiedMatching +OMIM:610598 PRCD skos:exactMatch ncbigene:768206 semapv:UnspecifiedMatching +OMIM:610599 retinitis pigmentosa 36 skos:exactMatch MONDO:0012523 semapv:UnspecifiedMatching +OMIM:610600 corticosterone methyloxidase iia 2 deficiency skos:exactMatch MONDO:0012524 semapv:UnspecifiedMatching +OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:20453 semapv:UnspecifiedMatching +OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:KLK15 semapv:UnspecifiedMatching +OMIM:610601 KLK15 skos:exactMatch ncbigene:55554 semapv:UnspecifiedMatching +OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:32487 semapv:UnspecifiedMatching +OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:ALKBH2 semapv:UnspecifiedMatching +OMIM:610602 ALKBH2 skos:exactMatch ncbigene:121642 semapv:UnspecifiedMatching +OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:30141 semapv:UnspecifiedMatching +OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:ALKBH3 semapv:UnspecifiedMatching +OMIM:610603 ALKBH3 skos:exactMatch ncbigene:221120 semapv:UnspecifiedMatching +OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:16343 semapv:UnspecifiedMatching +OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:KIR3DP1 semapv:UnspecifiedMatching +OMIM:610604 KIR3DP1 skos:exactMatch ncbigene:548594 semapv:UnspecifiedMatching +OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:21745 semapv:UnspecifiedMatching +OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:CPEB2 semapv:UnspecifiedMatching +OMIM:610605 CPEB2 skos:exactMatch ncbigene:132864 semapv:UnspecifiedMatching +OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:21746 semapv:UnspecifiedMatching +OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:CPEB3 semapv:UnspecifiedMatching +OMIM:610606 CPEB3 skos:exactMatch ncbigene:22849 semapv:UnspecifiedMatching +OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:21747 semapv:UnspecifiedMatching +OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:CPEB4 semapv:UnspecifiedMatching +OMIM:610607 CPEB4 skos:exactMatch ncbigene:80315 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch UMLS:C1825347 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch UMLS:C4693356 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:28980 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:GINS1 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch ncbigene:9837 semapv:UnspecifiedMatching +OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:24575 semapv:UnspecifiedMatching +OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:GINS2 semapv:UnspecifiedMatching +OMIM:610609 GINS2 skos:exactMatch ncbigene:51659 semapv:UnspecifiedMatching +OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:25851 semapv:UnspecifiedMatching +OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:GINS3 semapv:UnspecifiedMatching +OMIM:610610 GINS3 skos:exactMatch ncbigene:64785 semapv:UnspecifiedMatching +OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:28226 semapv:UnspecifiedMatching +OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:GINS4 semapv:UnspecifiedMatching +OMIM:610611 GINS4 skos:exactMatch ncbigene:84296 semapv:UnspecifiedMatching +OMIM:610612 leber congenital amaurosis 12 skos:exactMatch MONDO:0012525 semapv:UnspecifiedMatching +OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:2591 semapv:UnspecifiedMatching +OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:CYP11B1 semapv:UnspecifiedMatching +OMIM:610613 CYP11B1 skos:exactMatch ncbigene:1584 semapv:UnspecifiedMatching +OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:29551 semapv:UnspecifiedMatching +OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:TBRG1 semapv:UnspecifiedMatching +OMIM:610614 TBRG1 skos:exactMatch ncbigene:84897 semapv:UnspecifiedMatching +OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:24703 semapv:UnspecifiedMatching +OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:RABL6 semapv:UnspecifiedMatching +OMIM:610615 RABL6 skos:exactMatch ncbigene:55684 semapv:UnspecifiedMatching +OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:29135 semapv:UnspecifiedMatching +OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:ANKRD12 semapv:UnspecifiedMatching +OMIM:610616 ANKRD12 skos:exactMatch ncbigene:23253 semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch UMLS:C1824983 semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch hgnc.symbol:30288 semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch hgnc.symbol:DTL semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch ncbigene:51514 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch MONDO:0012526 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:100054 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch UMLS:C1857728 semapv:UnspecifiedMatching +OMIM:610619 F12 skos:exactMatch hgnc.symbol:3530 semapv:UnspecifiedMatching +OMIM:610619 F12 skos:exactMatch hgnc.symbol:F12 semapv:UnspecifiedMatching +OMIM:610619 F12 skos:exactMatch ncbigene:2161 semapv:UnspecifiedMatching +OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:21303 semapv:UnspecifiedMatching +OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:ADPRHL1 semapv:UnspecifiedMatching +OMIM:610620 ADPRHL1 skos:exactMatch ncbigene:113622 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C1825613 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C4693640 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch UMLS:C4694024 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch hgnc.symbol:29239 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch hgnc.symbol:INTU semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch ncbigene:27152 semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch UMLS:C1825324 semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch hgnc.symbol:26219 semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch hgnc.symbol:FUZ semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch ncbigene:80199 semapv:UnspecifiedMatching +OMIM:610623 cataract 11, multiple types skos:exactMatch MONDO:0012527 semapv:UnspecifiedMatching +OMIM:610623 cataract 11, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:610623 cataract 11, multiple types skos:exactMatch UMLS:C1864567 semapv:UnspecifiedMatching +OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:21304 semapv:UnspecifiedMatching +OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:ADPRS semapv:UnspecifiedMatching +OMIM:610624 ADPRHL2 skos:exactMatch ncbigene:54936 semapv:UnspecifiedMatching +OMIM:610625 ART5 skos:exactMatch hgnc.symbol:24049 semapv:UnspecifiedMatching +OMIM:610625 ART5 skos:exactMatch hgnc.symbol:ART5 semapv:UnspecifiedMatching +OMIM:610625 ART5 skos:exactMatch ncbigene:116969 semapv:UnspecifiedMatching +OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:25026 semapv:UnspecifiedMatching +OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:PLPP5 semapv:UnspecifiedMatching +OMIM:610626 PLPP5 skos:exactMatch ncbigene:84513 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch UMLS:C1825487 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch UMLS:C1833692 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch hgnc.symbol:23336 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch hgnc.symbol:A2ML1 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch ncbigene:144568 semapv:UnspecifiedMatching +OMIM:610628 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch MONDO:0012528 semapv:UnspecifiedMatching +OMIM:610629 diamond-blackfan anemia 3 skos:exactMatch MONDO:0012529 semapv:UnspecifiedMatching +OMIM:610630 PTPN20 skos:exactMatch hgnc.symbol:23423 semapv:UnspecifiedMatching +OMIM:610630 PTPN20 skos:exactMatch hgnc.symbol:PTPN20 semapv:UnspecifiedMatching +OMIM:610630 PTPN20 skos:exactMatch ncbigene:26095 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch UMLS:C1539331 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch hgnc.symbol:31830 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch hgnc.symbol:MICU2 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch ncbigene:221154 semapv:UnspecifiedMatching +OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:27820 semapv:UnspecifiedMatching +OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:MICU3 semapv:UnspecifiedMatching +OMIM:610633 MICU3 skos:exactMatch ncbigene:286097 semapv:UnspecifiedMatching +OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:18831 semapv:UnspecifiedMatching +OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:CTHRC1 semapv:UnspecifiedMatching +OMIM:610635 CTHRC1 skos:exactMatch ncbigene:115908 semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch UMLS:C1537730 semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:31614 semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:MIR27B semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch ncbigene:407019 semapv:UnspecifiedMatching +OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:26025 semapv:UnspecifiedMatching +OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:MARCHF5 semapv:UnspecifiedMatching +OMIM:610637 MARCHF5 skos:exactMatch ncbigene:54708 semapv:UnspecifiedMatching +OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:5952 semapv:UnspecifiedMatching +OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:IGSF5 semapv:UnspecifiedMatching +OMIM:610638 IGSF5 skos:exactMatch ncbigene:150084 semapv:UnspecifiedMatching +OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:18464 semapv:UnspecifiedMatching +OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:GRID2IP semapv:UnspecifiedMatching +OMIM:610639 GRID2IP1 skos:exactMatch ncbigene:392862 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch UMLS:C1538134 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:31675 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:YTHDF2 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch ncbigene:51441 semapv:UnspecifiedMatching +OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:26184 semapv:UnspecifiedMatching +OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:TUT1 semapv:UnspecifiedMatching +OMIM:610641 TUT1 skos:exactMatch ncbigene:64852 semapv:UnspecifiedMatching +OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:26495 semapv:UnspecifiedMatching +OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:ERP27 semapv:UnspecifiedMatching +OMIM:610642 ERP27 skos:exactMatch ncbigene:121506 semapv:UnspecifiedMatching +OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:29302 semapv:UnspecifiedMatching +OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:CIP2A semapv:UnspecifiedMatching +OMIM:610643 CIP2A skos:exactMatch ncbigene:57650 semapv:UnspecifiedMatching +OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal skos:exactMatch MONDO:0012530 semapv:UnspecifiedMatching +OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:24580 semapv:UnspecifiedMatching +OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:CIB3 semapv:UnspecifiedMatching +OMIM:610645 CIB3 skos:exactMatch ncbigene:117286 semapv:UnspecifiedMatching +OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:33703 semapv:UnspecifiedMatching +OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:CIB4 semapv:UnspecifiedMatching +OMIM:610646 CIB4 skos:exactMatch ncbigene:130106 semapv:UnspecifiedMatching +OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:26742 semapv:UnspecifiedMatching +OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:NAT8L semapv:UnspecifiedMatching +OMIM:610647 NAT8L skos:exactMatch ncbigene:339983 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch UMLS:C1426179 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:19347 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:CUX2 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch ncbigene:23316 semapv:UnspecifiedMatching +OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:15759 semapv:UnspecifiedMatching +OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:ADRM1 semapv:UnspecifiedMatching +OMIM:610650 ADRM1 skos:exactMatch ncbigene:11047 semapv:UnspecifiedMatching +OMIM:610651 xeroderma pigmentosum, complementation group B skos:exactMatch MONDO:0012531 semapv:UnspecifiedMatching +OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:8772 semapv:UnspecifiedMatching +OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:PDE10A semapv:UnspecifiedMatching +OMIM:610652 PDE10A skos:exactMatch ncbigene:10846 semapv:UnspecifiedMatching +OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:18785 semapv:UnspecifiedMatching +OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:RRP1 semapv:UnspecifiedMatching +OMIM:610653 RRP1 skos:exactMatch ncbigene:8568 semapv:UnspecifiedMatching +OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:23818 semapv:UnspecifiedMatching +OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:RRP1B semapv:UnspecifiedMatching +OMIM:610654 RRP1B skos:exactMatch ncbigene:23076 semapv:UnspecifiedMatching +OMIM:610655 telangiectasia, hereditary hemorrhagic, iia 4 skos:exactMatch MONDO:0012532 semapv:UnspecifiedMatching +OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:33238 semapv:UnspecifiedMatching +OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:KYAT3 semapv:UnspecifiedMatching +OMIM:610656 CCBL2 skos:exactMatch ncbigene:56267 semapv:UnspecifiedMatching +OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:28984 semapv:UnspecifiedMatching +OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:WASHC5 semapv:UnspecifiedMatching +OMIM:610657 WASHC5 skos:exactMatch ncbigene:9897 semapv:UnspecifiedMatching +OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:17274 semapv:UnspecifiedMatching +OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:TRIM29 semapv:UnspecifiedMatching +OMIM:610658 TRIM29 skos:exactMatch ncbigene:23650 semapv:UnspecifiedMatching +OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:4575 semapv:UnspecifiedMatching +OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:GRID1 semapv:UnspecifiedMatching +OMIM:610659 GRID1 skos:exactMatch ncbigene:2894 semapv:UnspecifiedMatching +OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:24434 semapv:UnspecifiedMatching +OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:GLYR1 semapv:UnspecifiedMatching +OMIM:610660 GLYR1 skos:exactMatch ncbigene:84656 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch UMLS:C1425023 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:17646 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:NGLY1 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch ncbigene:55768 semapv:UnspecifiedMatching +OMIM:610662 PIGY skos:exactMatch hgnc.symbol:28213 semapv:UnspecifiedMatching +OMIM:610662 PIGY skos:exactMatch hgnc.symbol:PIGY semapv:UnspecifiedMatching +OMIM:610662 PIGY skos:exactMatch ncbigene:84992 semapv:UnspecifiedMatching +OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:20982 semapv:UnspecifiedMatching +OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:SMYD2 semapv:UnspecifiedMatching +OMIM:610663 SMYD2 skos:exactMatch ncbigene:56950 semapv:UnspecifiedMatching +OMIM:610664 BLTP2 skos:exactMatch hgnc.symbol:BLTP2 semapv:UnspecifiedMatching +OMIM:610664 BLTP2 skos:exactMatch ncbigene:9703 semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch UMLS:C1414556 semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch UMLS:C4017227 semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:3620 semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:FCGR3B semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch ncbigene:2215 semapv:UnspecifiedMatching +OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:16229 semapv:UnspecifiedMatching +OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:NRSN2 semapv:UnspecifiedMatching +OMIM:610666 NRSN2 skos:exactMatch ncbigene:80023 semapv:UnspecifiedMatching +OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:19678 semapv:UnspecifiedMatching +OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:UCHL5 semapv:UnspecifiedMatching +OMIM:610667 UCHL5 skos:exactMatch ncbigene:51377 semapv:UnspecifiedMatching +OMIM:610668 INSC skos:exactMatch UMLS:C1825602 semapv:UnspecifiedMatching +OMIM:610668 INSC skos:exactMatch hgnc.symbol:33116 semapv:UnspecifiedMatching +OMIM:610668 INSC skos:exactMatch hgnc.symbol:INSC semapv:UnspecifiedMatching +OMIM:610668 INSC skos:exactMatch ncbigene:387755 semapv:UnspecifiedMatching +OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:19118 semapv:UnspecifiedMatching +OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:TNIP2 semapv:UnspecifiedMatching +OMIM:610669 TNIP2 skos:exactMatch ncbigene:79155 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch UMLS:C1427016 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch UMLS:C3539507 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:20582 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:CYP2U1 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch ncbigene:113612 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch UMLS:C1538207 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:28054 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:ZNF628 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch ncbigene:89887 semapv:UnspecifiedMatching +OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:20967 semapv:UnspecifiedMatching +OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:NACC1 semapv:UnspecifiedMatching +OMIM:610672 NACC1 skos:exactMatch ncbigene:112939 semapv:UnspecifiedMatching +OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:25446 semapv:UnspecifiedMatching +OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:NAIF1 semapv:UnspecifiedMatching +OMIM:610673 NAIF1 skos:exactMatch ncbigene:203245 semapv:UnspecifiedMatching +OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:15874 semapv:UnspecifiedMatching +OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:SPEF1 semapv:UnspecifiedMatching +OMIM:610674 SPEF1 skos:exactMatch ncbigene:25876 semapv:UnspecifiedMatching +OMIM:610675 USE1 skos:exactMatch hgnc.symbol:30882 semapv:UnspecifiedMatching +OMIM:610675 USE1 skos:exactMatch hgnc.symbol:USE1 semapv:UnspecifiedMatching +OMIM:610675 USE1 skos:exactMatch ncbigene:55850 semapv:UnspecifiedMatching +OMIM:610676 autism, susceptibility to, 7 skos:exactMatch MONDO:0012533 semapv:UnspecifiedMatching +OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:24489 semapv:UnspecifiedMatching +OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:LSM14A semapv:UnspecifiedMatching +OMIM:610677 LSM14A skos:exactMatch ncbigene:26065 semapv:UnspecifiedMatching +OMIM:610678 combined oxidative phosphorylation deficiency 4 skos:exactMatch MONDO:0012534 semapv:UnspecifiedMatching +OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:8883 semapv:UnspecifiedMatching +OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:CDK14 semapv:UnspecifiedMatching +OMIM:610679 CDK14 skos:exactMatch ncbigene:5218 semapv:UnspecifiedMatching +OMIM:610680 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch MONDO:0012535 semapv:UnspecifiedMatching +OMIM:610681 PFKM skos:exactMatch hgnc.symbol:8877 semapv:UnspecifiedMatching +OMIM:610681 PFKM skos:exactMatch hgnc.symbol:PFKM semapv:UnspecifiedMatching +OMIM:610681 PFKM skos:exactMatch ncbigene:5213 semapv:UnspecifiedMatching +OMIM:610682 osteogenesis imperfecta, iia 7 skos:exactMatch MONDO:0012536 semapv:UnspecifiedMatching +OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:26648 semapv:UnspecifiedMatching +OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:BBS12 semapv:UnspecifiedMatching +OMIM:610683 BBS12 skos:exactMatch ncbigene:166379 semapv:UnspecifiedMatching +OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:19085 semapv:UnspecifiedMatching +OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:CTDNEP1 semapv:UnspecifiedMatching +OMIM:610684 CTDNEP1 skos:exactMatch ncbigene:23399 semapv:UnspecifiedMatching +OMIM:610685 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch MONDO:0012537 semapv:UnspecifiedMatching +OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:27035 semapv:UnspecifiedMatching +OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:UBXN2B semapv:UnspecifiedMatching +OMIM:610686 UBXN2B skos:exactMatch ncbigene:137886 semapv:UnspecifiedMatching +OMIM:610687 nemaline myopathy 7 skos:exactMatch MONDO:0012538 semapv:UnspecifiedMatching +OMIM:610687 nemaline myopathy 7 skos:exactMatch Orphanet:171436 semapv:UnspecifiedMatching +OMIM:610687 nemaline myopathy 7 skos:exactMatch UMLS:C1853154 semapv:UnspecifiedMatching +OMIM:610688 joubert syndrome 6 skos:exactMatch MONDO:0012539 semapv:UnspecifiedMatching +OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:35152 semapv:UnspecifiedMatching +OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:PAPPA-AS1 semapv:UnspecifiedMatching +OMIM:610689 dipla1, antisense skos:exactMatch ncbigene:493913 semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch UMLS:C0342738 semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch UMLS:C1415543 semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:4908 semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:HIBCH semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch ncbigene:26275 semapv:UnspecifiedMatching +OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:25209 semapv:UnspecifiedMatching +OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:PRUNE2 semapv:UnspecifiedMatching +OMIM:610691 PRUNE2 skos:exactMatch ncbigene:158471 semapv:UnspecifiedMatching +OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:5249 semapv:UnspecifiedMatching +OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:HSPB7 semapv:UnspecifiedMatching +OMIM:610692 HSPB7 skos:exactMatch ncbigene:27129 semapv:UnspecifiedMatching +OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:26558 semapv:UnspecifiedMatching +OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:HYLS1 semapv:UnspecifiedMatching +OMIM:610693 HYLS1 skos:exactMatch ncbigene:219844 semapv:UnspecifiedMatching +OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:13568 semapv:UnspecifiedMatching +OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:PGPEP1 semapv:UnspecifiedMatching +OMIM:610694 PGPEP1 skos:exactMatch ncbigene:54858 semapv:UnspecifiedMatching +OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:26511 semapv:UnspecifiedMatching +OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:HSPB6 semapv:UnspecifiedMatching +OMIM:610695 HSPB6 skos:exactMatch ncbigene:126393 semapv:UnspecifiedMatching +OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:28961 semapv:UnspecifiedMatching +OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:PCLAF semapv:UnspecifiedMatching +OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch ncbigene:9768 semapv:UnspecifiedMatching +OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:18486 semapv:UnspecifiedMatching +OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:PDZD2 semapv:UnspecifiedMatching +OMIM:610697 PDZD2 skos:exactMatch ncbigene:23037 semapv:UnspecifiedMatching +OMIM:610698 macular degeneration, age-related, 4 skos:exactMatch MONDO:0012540 semapv:UnspecifiedMatching +OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:28073 semapv:UnspecifiedMatching +OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:ZFAND2A semapv:UnspecifiedMatching +OMIM:610699 ZFAND2A skos:exactMatch ncbigene:90637 semapv:UnspecifiedMatching +OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:26909 semapv:UnspecifiedMatching +OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:HTRA4 semapv:UnspecifiedMatching +OMIM:610700 HTRA4 skos:exactMatch ncbigene:203100 semapv:UnspecifiedMatching +OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:19022 semapv:UnspecifiedMatching +OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:HSPA12A semapv:UnspecifiedMatching +OMIM:610701 HSPA12A skos:exactMatch ncbigene:259217 semapv:UnspecifiedMatching +OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:16193 semapv:UnspecifiedMatching +OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:HSPA12B semapv:UnspecifiedMatching +OMIM:610702 HSPA12B skos:exactMatch ncbigene:116835 semapv:UnspecifiedMatching +OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:16969 semapv:UnspecifiedMatching +OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:HSPH1 semapv:UnspecifiedMatching +OMIM:610703 HSPH1 skos:exactMatch ncbigene:10808 semapv:UnspecifiedMatching +OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:30306 semapv:UnspecifiedMatching +OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:PHB2 semapv:UnspecifiedMatching +OMIM:610704 PHB2 skos:exactMatch ncbigene:11331 semapv:UnspecifiedMatching +OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:30811 semapv:UnspecifiedMatching +OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:CD300LB semapv:UnspecifiedMatching +OMIM:610705 CD300LB skos:exactMatch ncbigene:124599 semapv:UnspecifiedMatching +OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia skos:exactMatch MONDO:0012541 semapv:UnspecifiedMatching +OMIM:610707 psoriasis 8, susceptibility to skos:exactMatch MONDO:0012542 semapv:UnspecifiedMatching +OMIM:610708 optic atrophy 5 skos:exactMatch MONDO:0012543 semapv:UnspecifiedMatching +OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:14968 semapv:UnspecifiedMatching +OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:TSSK1B semapv:UnspecifiedMatching +OMIM:610709 TSSK1 skos:exactMatch ncbigene:83942 semapv:UnspecifiedMatching +OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:11401 semapv:UnspecifiedMatching +OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:TSSK2 semapv:UnspecifiedMatching +OMIM:610710 TSSK2 skos:exactMatch ncbigene:23617 semapv:UnspecifiedMatching +OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:19825 semapv:UnspecifiedMatching +OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:TSSK4 semapv:UnspecifiedMatching +OMIM:610711 TSSK4 skos:exactMatch ncbigene:283629 semapv:UnspecifiedMatching +OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:30410 semapv:UnspecifiedMatching +OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:TSSK6 semapv:UnspecifiedMatching +OMIM:610712 TSSK6 skos:exactMatch ncbigene:83983 semapv:UnspecifiedMatching +OMIM:610713 brachydactyly-syndactyly syndrome skos:exactMatch MONDO:0012544 semapv:UnspecifiedMatching +OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:17999 semapv:UnspecifiedMatching +OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:PKN3 semapv:UnspecifiedMatching +OMIM:610714 PKN3 skos:exactMatch ncbigene:29941 semapv:UnspecifiedMatching +OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:17509 semapv:UnspecifiedMatching +OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:HEMGN semapv:UnspecifiedMatching +OMIM:610715 HEMGN skos:exactMatch ncbigene:55363 semapv:UnspecifiedMatching +OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:30750 semapv:UnspecifiedMatching +OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:TIPIN semapv:UnspecifiedMatching +OMIM:610716 TIPIN skos:exactMatch ncbigene:54962 semapv:UnspecifiedMatching +OMIM:610717 neutral lipid storage disease with myopathy skos:exactMatch MONDO:0012545 semapv:UnspecifiedMatching +OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:31566 semapv:UnspecifiedMatching +OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:MIR195 semapv:UnspecifiedMatching +OMIM:610718 MIR195 skos:exactMatch ncbigene:406971 semapv:UnspecifiedMatching +OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:31571 semapv:UnspecifiedMatching +OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:MIR199A1 semapv:UnspecifiedMatching +OMIM:610719 MIR199A1 skos:exactMatch ncbigene:406976 semapv:UnspecifiedMatching +OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:31572 semapv:UnspecifiedMatching +OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:MIR199A2 semapv:UnspecifiedMatching +OMIM:610720 MIR199A2 skos:exactMatch ncbigene:406977 semapv:UnspecifiedMatching +OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:31591 semapv:UnspecifiedMatching +OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:MIR214 semapv:UnspecifiedMatching +OMIM:610721 MIR214 skos:exactMatch ncbigene:406996 semapv:UnspecifiedMatching +OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:31606 semapv:UnspecifiedMatching +OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:MIR23B semapv:UnspecifiedMatching +OMIM:610723 MIR23B skos:exactMatch ncbigene:407011 semapv:UnspecifiedMatching +OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:31608 semapv:UnspecifiedMatching +OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:MIR24-2 semapv:UnspecifiedMatching +OMIM:610724 MIR24-2 skos:exactMatch ncbigene:407013 semapv:UnspecifiedMatching +OMIM:610725 nephrotic syndrome, iia 3 skos:exactMatch MONDO:0012546 semapv:UnspecifiedMatching +OMIM:610726 TRUB1 skos:exactMatch UMLS:C1423945 semapv:UnspecifiedMatching +OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:16060 semapv:UnspecifiedMatching +OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:TRUB1 semapv:UnspecifiedMatching +OMIM:610726 TRUB1 skos:exactMatch ncbigene:142940 semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch UMLS:C1424793 semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:17170 semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:TRUB2 semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch ncbigene:26995 semapv:UnspecifiedMatching +OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:17389 semapv:UnspecifiedMatching +OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:SMPDL3A semapv:UnspecifiedMatching +OMIM:610728 SMPDL3A skos:exactMatch ncbigene:10924 semapv:UnspecifiedMatching +OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:25176 semapv:UnspecifiedMatching +OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:DNAAF10 semapv:UnspecifiedMatching +OMIM:610729 WDR92 skos:exactMatch ncbigene:116143 semapv:UnspecifiedMatching +OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:1621 semapv:UnspecifiedMatching +OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:CCT6B semapv:UnspecifiedMatching +OMIM:610730 CCT6B skos:exactMatch ncbigene:10693 semapv:UnspecifiedMatching +OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:18588 semapv:UnspecifiedMatching +OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:ANKRD7 semapv:UnspecifiedMatching +OMIM:610731 ANKRD7 skos:exactMatch ncbigene:56311 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch UMLS:C1428204 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:23700 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:TTC12 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch ncbigene:54970 semapv:UnspecifiedMatching +OMIM:610733 noonan syndrome 4 skos:exactMatch MONDO:0012547 semapv:UnspecifiedMatching +OMIM:610733 noonan syndrome 4 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:610733 noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching +OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:495 semapv:UnspecifiedMatching +OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:ANKRD2 semapv:UnspecifiedMatching +OMIM:610734 ANKRD2 skos:exactMatch ncbigene:26287 semapv:UnspecifiedMatching +OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:18565 semapv:UnspecifiedMatching +OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:MYOZ3 semapv:UnspecifiedMatching +OMIM:610735 MYOZ3 skos:exactMatch ncbigene:91977 semapv:UnspecifiedMatching +OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:24470 semapv:UnspecifiedMatching +OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:ANKRD23 semapv:UnspecifiedMatching +OMIM:610736 ANKRD23 skos:exactMatch ncbigene:200539 semapv:UnspecifiedMatching +OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:18610 semapv:UnspecifiedMatching +OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:KSR2 semapv:UnspecifiedMatching +OMIM:610737 KSR2 skos:exactMatch ncbigene:283455 semapv:UnspecifiedMatching +OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive skos:exactMatch MONDO:0012548 semapv:UnspecifiedMatching +OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:11969 semapv:UnspecifiedMatching +OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:TNRC6A semapv:UnspecifiedMatching +OMIM:610739 TNRC6A skos:exactMatch ncbigene:27327 semapv:UnspecifiedMatching +OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:29190 semapv:UnspecifiedMatching +OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:TNRC6B semapv:UnspecifiedMatching +OMIM:610740 TNRC6B skos:exactMatch ncbigene:23112 semapv:UnspecifiedMatching +OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:29318 semapv:UnspecifiedMatching +OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:TNRC6C semapv:UnspecifiedMatching +OMIM:610741 TNRC6C skos:exactMatch ncbigene:57690 semapv:UnspecifiedMatching +OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:7200 semapv:UnspecifiedMatching +OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:MOV10 semapv:UnspecifiedMatching +OMIM:610742 MOV10 skos:exactMatch ncbigene:4343 semapv:UnspecifiedMatching +OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch MONDO:0012549 semapv:UnspecifiedMatching +OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching +OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching +OMIM:610744 iris pattern skos:exactMatch MONDO:0012550 semapv:UnspecifiedMatching +OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:30650 semapv:UnspecifiedMatching +OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:STRA6 semapv:UnspecifiedMatching +OMIM:610745 STRA6 skos:exactMatch ncbigene:64220 semapv:UnspecifiedMatching +OMIM:610746 DOLK skos:exactMatch hgnc.symbol:23406 semapv:UnspecifiedMatching +OMIM:610746 DOLK skos:exactMatch hgnc.symbol:DOLK semapv:UnspecifiedMatching +OMIM:610746 DOLK skos:exactMatch ncbigene:22845 semapv:UnspecifiedMatching +OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:23023 semapv:UnspecifiedMatching +OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:SAMD4A semapv:UnspecifiedMatching +OMIM:610747 SAMD4A skos:exactMatch ncbigene:23034 semapv:UnspecifiedMatching +OMIM:610748 USP28 skos:exactMatch hgnc.symbol:12625 semapv:UnspecifiedMatching +OMIM:610748 USP28 skos:exactMatch hgnc.symbol:USP28 semapv:UnspecifiedMatching +OMIM:610748 USP28 skos:exactMatch ncbigene:57646 semapv:UnspecifiedMatching +OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:21353 semapv:UnspecifiedMatching +OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:KLHL31 semapv:UnspecifiedMatching +OMIM:610749 KLHL31 skos:exactMatch ncbigene:401265 semapv:UnspecifiedMatching +OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:29620 semapv:UnspecifiedMatching +OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:ZCRB1 semapv:UnspecifiedMatching +OMIM:610750 ZCRB1 skos:exactMatch ncbigene:85437 semapv:UnspecifiedMatching +OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:23333 semapv:UnspecifiedMatching +OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:PRTFDC1 semapv:UnspecifiedMatching +OMIM:610751 PRTFDC1 skos:exactMatch ncbigene:56952 semapv:UnspecifiedMatching +OMIM:610752 UST skos:exactMatch hgnc.symbol:17223 semapv:UnspecifiedMatching +OMIM:610752 UST skos:exactMatch hgnc.symbol:UST semapv:UnspecifiedMatching +OMIM:610752 UST skos:exactMatch ncbigene:10090 semapv:UnspecifiedMatching +OMIM:610753 alopecia areata 2 skos:exactMatch MONDO:0012551 semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch UMLS:C1823656 semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch hgnc.symbol:23293 semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch hgnc.symbol:WAPL semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch ncbigene:23063 semapv:UnspecifiedMatching +OMIM:610755 multiple endocrine neoplasia, iia 4 skos:exactMatch MONDO:0012552 semapv:UnspecifiedMatching +OMIM:610756 cerebrooculofacioskeletal syndrome 2 skos:exactMatch MONDO:0012553 semapv:UnspecifiedMatching +OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:24066 semapv:UnspecifiedMatching +OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:CCL4L2 semapv:UnspecifiedMatching +OMIM:610757 CCL4L2 skos:exactMatch ncbigene:9560 semapv:UnspecifiedMatching +OMIM:610758 cerebrooculofacioskeletal syndrome 4 skos:exactMatch MONDO:0012554 semapv:UnspecifiedMatching +OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch MONDO:0012555 semapv:UnspecifiedMatching +OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching +OMIM:610762 high density lipoprotein cholesterol level quantitative trait locus 6 skos:exactMatch UMLS:C1853096 semapv:UnspecifiedMatching +OMIM:610763 NANP skos:exactMatch hgnc.symbol:16140 semapv:UnspecifiedMatching +OMIM:610763 NANP skos:exactMatch hgnc.symbol:NANP semapv:UnspecifiedMatching +OMIM:610763 NANP skos:exactMatch ncbigene:140838 semapv:UnspecifiedMatching +OMIM:610764 TSPOAP1 skos:exactMatch hgnc.symbol:16831 semapv:UnspecifiedMatching +OMIM:610764 TSPOAP1 skos:exactMatch hgnc.symbol:TSPOAP1 semapv:UnspecifiedMatching +OMIM:610764 TSPOAP1 skos:exactMatch ncbigene:9256 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch UMLS:C1826263 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:29636 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:MNS1 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch ncbigene:55329 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch UMLS:C1825502 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch UMLS:C4310865 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:21498 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:ATG16L1 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch ncbigene:55054 semapv:UnspecifiedMatching +OMIM:610768 congenital disorder of glycosylation, iia im skos:exactMatch MONDO:0012556 semapv:UnspecifiedMatching +OMIM:610769 NOC3L skos:exactMatch UMLS:C1835848 semapv:UnspecifiedMatching +OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:24034 semapv:UnspecifiedMatching +OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:NOC3L semapv:UnspecifiedMatching +OMIM:610769 NOC3L skos:exactMatch ncbigene:64318 semapv:UnspecifiedMatching +OMIM:610770 NOC2L skos:exactMatch UMLS:C1826446 semapv:UnspecifiedMatching +OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:24517 semapv:UnspecifiedMatching +OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:NOC2L semapv:UnspecifiedMatching +OMIM:610770 NOC2L skos:exactMatch ncbigene:26155 semapv:UnspecifiedMatching +OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:16816 semapv:UnspecifiedMatching +OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:CHD5 semapv:UnspecifiedMatching +OMIM:610771 CHD5 skos:exactMatch ncbigene:26038 semapv:UnspecifiedMatching +OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:26328 semapv:UnspecifiedMatching +OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:NKX6-3 semapv:UnspecifiedMatching +OMIM:610772 NKX6-3 skos:exactMatch ncbigene:157848 semapv:UnspecifiedMatching +OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch MONDO:0012557 semapv:UnspecifiedMatching +OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch Orphanet:91130 semapv:UnspecifiedMatching +OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch UMLS:C1420844 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:11968 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:CNPY3 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch ncbigene:10695 semapv:UnspecifiedMatching +OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:1185 semapv:UnspecifiedMatching +OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:TIGAR semapv:UnspecifiedMatching +OMIM:610775 TIGAR skos:exactMatch ncbigene:57103 semapv:UnspecifiedMatching +OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:25645 semapv:UnspecifiedMatching +OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:DRAM1 semapv:UnspecifiedMatching +OMIM:610776 DRAM1 skos:exactMatch ncbigene:55332 semapv:UnspecifiedMatching +OMIM:610777 NGDN skos:exactMatch hgnc.symbol:20271 semapv:UnspecifiedMatching +OMIM:610777 NGDN skos:exactMatch hgnc.symbol:NGDN semapv:UnspecifiedMatching +OMIM:610777 NGDN skos:exactMatch ncbigene:25983 semapv:UnspecifiedMatching +OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:4397 semapv:UnspecifiedMatching +OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:GNB1L semapv:UnspecifiedMatching +OMIM:610778 GNB1L skos:exactMatch ncbigene:54584 semapv:UnspecifiedMatching +OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:8042 semapv:UnspecifiedMatching +OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:NUBP2 semapv:UnspecifiedMatching +OMIM:610779 NUBP2 skos:exactMatch ncbigene:10101 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch UMLS:C1825910 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:25652 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:LSG1 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch ncbigene:55341 semapv:UnspecifiedMatching +OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:4377 semapv:UnspecifiedMatching +OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:GMPR2 semapv:UnspecifiedMatching +OMIM:610781 GMPR2 skos:exactMatch ncbigene:51292 semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch UMLS:C1835841 semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:31616 semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:MIR29A semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch ncbigene:407021 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch UMLS:C1835840 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:31619 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:MIR29B1 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch ncbigene:407024 semapv:UnspecifiedMatching +OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:31621 semapv:UnspecifiedMatching +OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:MIR29C semapv:UnspecifiedMatching +OMIM:610784 MIR29C skos:exactMatch ncbigene:407026 semapv:UnspecifiedMatching +OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:18981 semapv:UnspecifiedMatching +OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:PDIK1L semapv:UnspecifiedMatching +OMIM:610785 PDIK1L skos:exactMatch ncbigene:149420 semapv:UnspecifiedMatching +OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:29506 semapv:UnspecifiedMatching +OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:SRCIN1 semapv:UnspecifiedMatching +OMIM:610786 SRCIN1 skos:exactMatch ncbigene:80725 semapv:UnspecifiedMatching +OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:30143 semapv:UnspecifiedMatching +OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:PRAC2 semapv:UnspecifiedMatching +OMIM:610787 PRAC2 skos:exactMatch ncbigene:360205 semapv:UnspecifiedMatching +OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:16872 semapv:UnspecifiedMatching +OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:SLC35B2 semapv:UnspecifiedMatching +OMIM:610788 SLC35B2 skos:exactMatch ncbigene:347734 semapv:UnspecifiedMatching +OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:16119 semapv:UnspecifiedMatching +OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:PDRG1 semapv:UnspecifiedMatching +OMIM:610789 PDRG1 skos:exactMatch ncbigene:81572 semapv:UnspecifiedMatching +OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:20798 semapv:UnspecifiedMatching +OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:SLC35B1 semapv:UnspecifiedMatching +OMIM:610790 SLC35B1 skos:exactMatch ncbigene:10237 semapv:UnspecifiedMatching +OMIM:610791 SLC43A2 skos:exactMatch UMLS:C1539786 semapv:UnspecifiedMatching +OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:23087 semapv:UnspecifiedMatching +OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:SLC43A2 semapv:UnspecifiedMatching +OMIM:610791 SLC43A2 skos:exactMatch ncbigene:124935 semapv:UnspecifiedMatching +OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:32935 semapv:UnspecifiedMatching +OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:SLC22A25 semapv:UnspecifiedMatching +OMIM:610792 SLC22A25 skos:exactMatch ncbigene:387601 semapv:UnspecifiedMatching +OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:27371 semapv:UnspecifiedMatching +OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:SLC25A30 semapv:UnspecifiedMatching +OMIM:610793 SLC25A30 skos:exactMatch ncbigene:253512 semapv:UnspecifiedMatching +OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:14097 semapv:UnspecifiedMatching +OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:ZSCAN31 semapv:UnspecifiedMatching +OMIM:610794 ZNF323 skos:exactMatch ncbigene:64288 semapv:UnspecifiedMatching +OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:30907 semapv:UnspecifiedMatching +OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:SORBS3 semapv:UnspecifiedMatching +OMIM:610795 SORBS3 skos:exactMatch ncbigene:10174 semapv:UnspecifiedMatching +OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:25319 semapv:UnspecifiedMatching +OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:SLC25A31 semapv:UnspecifiedMatching +OMIM:610796 SLC25A31 skos:exactMatch ncbigene:83447 semapv:UnspecifiedMatching +OMIM:610797 epiphyseal dysplasia, baumann iia skos:exactMatch MONDO:0012558 semapv:UnspecifiedMatching +OMIM:610798 immunodeficiency due to defect 1n mapbp-interacting protein skos:exactMatch MONDO:0012559 semapv:UnspecifiedMatching +OMIM:610799 skos:exactMatch MONDO:0012560 semapv:UnspecifiedMatching +OMIM:610800 ATG10 skos:exactMatch UMLS:C1825501 semapv:UnspecifiedMatching +OMIM:610800 ATG10 skos:exactMatch hgnc.symbol:20315 semapv:UnspecifiedMatching +OMIM:610800 ATG10 skos:exactMatch hgnc.symbol:ATG10 semapv:UnspecifiedMatching +OMIM:610800 ATG10 skos:exactMatch ncbigene:83734 semapv:UnspecifiedMatching +OMIM:610801 SLC41A1 skos:exactMatch hgnc.symbol:19429 semapv:UnspecifiedMatching +OMIM:610801 SLC41A1 skos:exactMatch hgnc.symbol:SLC41A1 semapv:UnspecifiedMatching +OMIM:610801 SLC41A1 skos:exactMatch ncbigene:254428 semapv:UnspecifiedMatching +OMIM:610802 SLC41A2 skos:exactMatch hgnc.symbol:31045 semapv:UnspecifiedMatching +OMIM:610802 SLC41A2 skos:exactMatch hgnc.symbol:SLC41A2 semapv:UnspecifiedMatching +OMIM:610802 SLC41A2 skos:exactMatch ncbigene:84102 semapv:UnspecifiedMatching +OMIM:610803 SLC41A3 skos:exactMatch hgnc.symbol:31046 semapv:UnspecifiedMatching +OMIM:610803 SLC41A3 skos:exactMatch hgnc.symbol:SLC41A3 semapv:UnspecifiedMatching +OMIM:610803 SLC41A3 skos:exactMatch ncbigene:54946 semapv:UnspecifiedMatching +OMIM:610804 SLC35D1 skos:exactMatch hgnc.symbol:20800 semapv:UnspecifiedMatching +OMIM:610804 SLC35D1 skos:exactMatch hgnc.symbol:SLC35D1 semapv:UnspecifiedMatching +OMIM:610804 SLC35D1 skos:exactMatch ncbigene:23169 semapv:UnspecifiedMatching +OMIM:610805 congenital anomalies of kidney and urinary tract 1 skos:exactMatch MONDO:0012561 semapv:UnspecifiedMatching +OMIM:610805 congenital anomalies of kidney and urinary tract 1 skos:exactMatch UMLS:C1835826 semapv:UnspecifiedMatching +OMIM:610806 TBC1D3C skos:exactMatch hgnc.symbol:24889 semapv:UnspecifiedMatching +OMIM:610806 TBC1D3C skos:exactMatch hgnc.symbol:TBC1D3C semapv:UnspecifiedMatching +OMIM:610806 TBC1D3C skos:exactMatch ncbigene:414060 semapv:UnspecifiedMatching +OMIM:610807 TBC1D3D skos:exactMatch hgnc.symbol:28944 semapv:UnspecifiedMatching +OMIM:610807 TBC1D3D skos:exactMatch hgnc.symbol:TBC1D3D semapv:UnspecifiedMatching +OMIM:610807 TBC1D3D skos:exactMatch ncbigene:101060389 semapv:UnspecifiedMatching +OMIM:610808 TBC1D3E skos:exactMatch hgnc.symbol:27071 semapv:UnspecifiedMatching +OMIM:610808 TBC1D3E skos:exactMatch hgnc.symbol:TBC1D3E semapv:UnspecifiedMatching +OMIM:610808 TBC1D3E skos:exactMatch ncbigene:102723859 semapv:UnspecifiedMatching +OMIM:610809 TBC1D3F skos:exactMatch hgnc.symbol:18257 semapv:UnspecifiedMatching +OMIM:610809 TBC1D3F skos:exactMatch hgnc.symbol:TBC1D3F semapv:UnspecifiedMatching +OMIM:610809 TBC1D3F skos:exactMatch ncbigene:84218 semapv:UnspecifiedMatching +OMIM:610810 TBC1D3G skos:exactMatch hgnc.symbol:29860 semapv:UnspecifiedMatching +OMIM:610810 TBC1D3G skos:exactMatch hgnc.symbol:TBC1D3G semapv:UnspecifiedMatching +OMIM:610810 TBC1D3G skos:exactMatch ncbigene:101060321 semapv:UnspecifiedMatching +OMIM:610811 TBC1D3H skos:exactMatch hgnc.symbol:30708 semapv:UnspecifiedMatching +OMIM:610811 TBC1D3H skos:exactMatch hgnc.symbol:TBC1D3H semapv:UnspecifiedMatching +OMIM:610811 TBC1D3H skos:exactMatch ncbigene:729877 semapv:UnspecifiedMatching +OMIM:610812 HYDIN skos:exactMatch hgnc.symbol:19368 semapv:UnspecifiedMatching +OMIM:610812 HYDIN skos:exactMatch hgnc.symbol:HYDIN semapv:UnspecifiedMatching +OMIM:610812 HYDIN skos:exactMatch ncbigene:54768 semapv:UnspecifiedMatching +OMIM:610813 HYDIN2 skos:exactMatch hgnc.symbol:33129 semapv:UnspecifiedMatching +OMIM:610813 HYDIN2 skos:exactMatch hgnc.symbol:HYDIN2 semapv:UnspecifiedMatching +OMIM:610813 HYDIN2 skos:exactMatch ncbigene:100288805 semapv:UnspecifiedMatching +OMIM:610816 SLC25A33 skos:exactMatch UMLS:C1822743 semapv:UnspecifiedMatching +OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:29681 semapv:UnspecifiedMatching +OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:SLC25A33 semapv:UnspecifiedMatching +OMIM:610816 SLC25A33 skos:exactMatch ncbigene:84275 semapv:UnspecifiedMatching +OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:27653 semapv:UnspecifiedMatching +OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:SLC25A34 semapv:UnspecifiedMatching +OMIM:610817 SLC25A34 skos:exactMatch ncbigene:284723 semapv:UnspecifiedMatching +OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:31921 semapv:UnspecifiedMatching +OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:SLC25A35 semapv:UnspecifiedMatching +OMIM:610818 SLC25A35 skos:exactMatch ncbigene:399512 semapv:UnspecifiedMatching +OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:26054 semapv:UnspecifiedMatching +OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:SLC25A38 semapv:UnspecifiedMatching +OMIM:610819 SLC25A38 skos:exactMatch ncbigene:54977 semapv:UnspecifiedMatching +OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:24279 semapv:UnspecifiedMatching +OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:SLC25A39 semapv:UnspecifiedMatching +OMIM:610820 SLC25A39 skos:exactMatch ncbigene:51629 semapv:UnspecifiedMatching +OMIM:610821 SLC25A40 skos:exactMatch hgnc.symbol:29680 semapv:UnspecifiedMatching +OMIM:610821 SLC25A40 skos:exactMatch hgnc.symbol:SLC25A40 semapv:UnspecifiedMatching +OMIM:610821 SLC25A40 skos:exactMatch ncbigene:55972 semapv:UnspecifiedMatching +OMIM:610822 SLC25A41 skos:exactMatch hgnc.symbol:28533 semapv:UnspecifiedMatching +OMIM:610822 SLC25A41 skos:exactMatch hgnc.symbol:SLC25A41 semapv:UnspecifiedMatching +OMIM:610822 SLC25A41 skos:exactMatch ncbigene:284427 semapv:UnspecifiedMatching +OMIM:610823 SLC25A42 skos:exactMatch hgnc.symbol:28380 semapv:UnspecifiedMatching +OMIM:610823 SLC25A42 skos:exactMatch hgnc.symbol:SLC25A42 semapv:UnspecifiedMatching +OMIM:610823 SLC25A42 skos:exactMatch ncbigene:284439 semapv:UnspecifiedMatching +OMIM:610824 SLC25A44 skos:exactMatch hgnc.symbol:29036 semapv:UnspecifiedMatching +OMIM:610824 SLC25A44 skos:exactMatch hgnc.symbol:SLC25A44 semapv:UnspecifiedMatching +OMIM:610824 SLC25A44 skos:exactMatch ncbigene:9673 semapv:UnspecifiedMatching +OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:27442 semapv:UnspecifiedMatching +OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:SLC25A45 semapv:UnspecifiedMatching +OMIM:610825 SLC25A45 skos:exactMatch ncbigene:283130 semapv:UnspecifiedMatching +OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:25198 semapv:UnspecifiedMatching +OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:SLC25A46 semapv:UnspecifiedMatching +OMIM:610826 SLC25A46 skos:exactMatch ncbigene:91137 semapv:UnspecifiedMatching +OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:15807 semapv:UnspecifiedMatching +OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:ZNF335 semapv:UnspecifiedMatching +OMIM:610827 ZNF335 skos:exactMatch ncbigene:63925 semapv:UnspecifiedMatching +OMIM:610828 holoprosencephaly 7 skos:exactMatch MONDO:0012562 semapv:UnspecifiedMatching +OMIM:610829 holoprosencephaly 9 skos:exactMatch MONDO:0012563 semapv:UnspecifiedMatching +OMIM:610830 polyosteolysis-hyperostosis syndrome skos:exactMatch MONDO:0012564 semapv:UnspecifiedMatching +OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:24702 semapv:UnspecifiedMatching +OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:TBC1D10C semapv:UnspecifiedMatching +OMIM:610831 TBC1D10C skos:exactMatch ncbigene:374403 semapv:UnspecifiedMatching +OMIM:610832 fanconi anemia, complementation group n skos:exactMatch MONDO:0012565 semapv:UnspecifiedMatching +OMIM:610833 NAA20 skos:exactMatch UMLS:C1423824 semapv:UnspecifiedMatching +OMIM:610833 NAA20 skos:exactMatch hgnc.symbol:15908 semapv:UnspecifiedMatching +OMIM:610833 NAA20 skos:exactMatch hgnc.symbol:NAA20 semapv:UnspecifiedMatching +OMIM:610833 NAA20 skos:exactMatch ncbigene:51126 semapv:UnspecifiedMatching +OMIM:610834 NAA50 skos:exactMatch UMLS:C1826357 semapv:UnspecifiedMatching +OMIM:610834 NAA50 skos:exactMatch hgnc.symbol:29533 semapv:UnspecifiedMatching +OMIM:610834 NAA50 skos:exactMatch hgnc.symbol:NAA50 semapv:UnspecifiedMatching +OMIM:610834 NAA50 skos:exactMatch ncbigene:80218 semapv:UnspecifiedMatching +OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:29885 semapv:UnspecifiedMatching +OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:ICE2 semapv:UnspecifiedMatching +OMIM:610835 NARG2 skos:exactMatch ncbigene:79664 semapv:UnspecifiedMatching +OMIM:610836 autism, susceptibility to, 11 skos:exactMatch MONDO:0012566 semapv:UnspecifiedMatching +OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:13787 semapv:UnspecifiedMatching +OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:BCL2L12 semapv:UnspecifiedMatching +OMIM:610837 BCL2L12 skos:exactMatch ncbigene:83596 semapv:UnspecifiedMatching +OMIM:610838 autism, susceptibility to, 12 skos:exactMatch MONDO:0012567 semapv:UnspecifiedMatching +OMIM:610839 osteoarthritis susceptibility 4 skos:exactMatch MONDO:0012568 semapv:UnspecifiedMatching +OMIM:610840 mitral valve prolapse 3 skos:exactMatch MONDO:0012569 semapv:UnspecifiedMatching +OMIM:610840 mitral valve prolapse 3 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching +OMIM:610840 mitral valve prolapse 3 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching +OMIM:610841 STIM2 skos:exactMatch hgnc.symbol:19205 semapv:UnspecifiedMatching +OMIM:610841 STIM2 skos:exactMatch hgnc.symbol:STIM2 semapv:UnspecifiedMatching +OMIM:610841 STIM2 skos:exactMatch ncbigene:57620 semapv:UnspecifiedMatching +OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency skos:exactMatch MONDO:0012570 semapv:UnspecifiedMatching +OMIM:610843 UQCR10 skos:exactMatch hgnc.symbol:30863 semapv:UnspecifiedMatching +OMIM:610843 UQCR10 skos:exactMatch hgnc.symbol:UQCR10 semapv:UnspecifiedMatching +OMIM:610843 UQCR10 skos:exactMatch ncbigene:29796 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch UMLS:C1420344 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch UMLS:C1858479 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch UMLS:C4225253 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:11226 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:SPG11 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch ncbigene:80208 semapv:UnspecifiedMatching +OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:21601 semapv:UnspecifiedMatching +OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:SLC35B3 semapv:UnspecifiedMatching +OMIM:610845 SLC35B3 skos:exactMatch ncbigene:51000 semapv:UnspecifiedMatching +OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:20264 semapv:UnspecifiedMatching +OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:LRRC10 semapv:UnspecifiedMatching +OMIM:610846 LRRC10 skos:exactMatch ncbigene:376132 semapv:UnspecifiedMatching +OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:23640 semapv:UnspecifiedMatching +OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:ZNF322 semapv:UnspecifiedMatching +OMIM:610847 ZNF322 skos:exactMatch ncbigene:79692 semapv:UnspecifiedMatching +OMIM:610848 REP15 skos:exactMatch hgnc.symbol:33748 semapv:UnspecifiedMatching +OMIM:610848 REP15 skos:exactMatch hgnc.symbol:REP15 semapv:UnspecifiedMatching +OMIM:610848 REP15 skos:exactMatch ncbigene:387849 semapv:UnspecifiedMatching +OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:26664 semapv:UnspecifiedMatching +OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:TTLL6 semapv:UnspecifiedMatching +OMIM:610849 TTLL6 skos:exactMatch ncbigene:284076 semapv:UnspecifiedMatching +OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:14089 semapv:UnspecifiedMatching +OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:XAB2 semapv:UnspecifiedMatching +OMIM:610850 XAB2 skos:exactMatch ncbigene:56949 semapv:UnspecifiedMatching +OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:28808 semapv:UnspecifiedMatching +OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:AP1AR semapv:UnspecifiedMatching +OMIM:610851 AP1AR skos:exactMatch ncbigene:55435 semapv:UnspecifiedMatching +OMIM:610852 ciliary dyskinesia, primary, 6 skos:exactMatch MONDO:0012571 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch UMLS:C1826615 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:24618 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:AHCTF1 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch ncbigene:25909 semapv:UnspecifiedMatching +OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:29186 semapv:UnspecifiedMatching +OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:ANKRD26 semapv:UnspecifiedMatching +OMIM:610855 ANKRD26 skos:exactMatch ncbigene:22852 semapv:UnspecifiedMatching +OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:17234 semapv:UnspecifiedMatching +OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:ANKRD30A semapv:UnspecifiedMatching +OMIM:610856 ANKRD30A skos:exactMatch ncbigene:91074 semapv:UnspecifiedMatching +OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:30588 semapv:UnspecifiedMatching +OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:MUCL1 semapv:UnspecifiedMatching +OMIM:610857 MUCL1 skos:exactMatch ncbigene:118430 semapv:UnspecifiedMatching +OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:23169 semapv:UnspecifiedMatching +OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:RTRAF semapv:UnspecifiedMatching +OMIM:610858 RTRAF skos:exactMatch ncbigene:51637 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch UMLS:C2239891 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch UMLS:C4748304 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:27089 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:CARMIL2 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch ncbigene:146206 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch UMLS:C1412279 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch UMLS:C3695005 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch UMLS:C3695006 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch UMLS:C3695007 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch hgnc.symbol:321 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch hgnc.symbol:AGL semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch ncbigene:178 semapv:UnspecifiedMatching +OMIM:610861 SYNE3 skos:exactMatch UMLS:C1426488 semapv:UnspecifiedMatching +OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:19861 semapv:UnspecifiedMatching +OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:SYNE3 semapv:UnspecifiedMatching +OMIM:610861 SYNE3 skos:exactMatch ncbigene:161176 semapv:UnspecifiedMatching +OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:20113 semapv:UnspecifiedMatching +OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:DEGS2 semapv:UnspecifiedMatching +OMIM:610862 DEGS2 skos:exactMatch ncbigene:123099 semapv:UnspecifiedMatching +OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:20731 semapv:UnspecifiedMatching +OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:GNB4 semapv:UnspecifiedMatching +OMIM:610863 GNB4 skos:exactMatch ncbigene:59345 semapv:UnspecifiedMatching +OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:39077 semapv:UnspecifiedMatching +OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:FLVCR1-DT semapv:UnspecifiedMatching +OMIM:610864 FLVCR1-DT skos:exactMatch ncbigene:642946 semapv:UnspecifiedMatching +OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:20105 semapv:UnspecifiedMatching +OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:FLVCR2 semapv:UnspecifiedMatching +OMIM:610865 FLVCR2 skos:exactMatch ncbigene:55640 semapv:UnspecifiedMatching +OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:15938 semapv:UnspecifiedMatching +OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:UCKL1 semapv:UnspecifiedMatching +OMIM:610866 UCKL1 skos:exactMatch ncbigene:54963 semapv:UnspecifiedMatching +OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:19408 semapv:UnspecifiedMatching +OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:LRRTM1 semapv:UnspecifiedMatching +OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch ncbigene:347730 semapv:UnspecifiedMatching +OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:19409 semapv:UnspecifiedMatching +OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:LRRTM2 semapv:UnspecifiedMatching +OMIM:610868 LRRTM2 skos:exactMatch ncbigene:26045 semapv:UnspecifiedMatching +OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:19410 semapv:UnspecifiedMatching +OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:LRRTM3 semapv:UnspecifiedMatching +OMIM:610869 LRRTM3 skos:exactMatch ncbigene:347731 semapv:UnspecifiedMatching +OMIM:610870 LRRTM4 skos:exactMatch UMLS:C1537619 semapv:UnspecifiedMatching +OMIM:610870 LRRTM4 skos:exactMatch hgnc.symbol:19411 semapv:UnspecifiedMatching +OMIM:610870 LRRTM4 skos:exactMatch hgnc.symbol:LRRTM4 semapv:UnspecifiedMatching +OMIM:610870 LRRTM4 skos:exactMatch ncbigene:80059 semapv:UnspecifiedMatching +OMIM:610871 sakoda complex skos:exactMatch MONDO:0012572 semapv:UnspecifiedMatching +OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:26886 semapv:UnspecifiedMatching +OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:RNF19B semapv:UnspecifiedMatching +OMIM:610872 IBRDC3 skos:exactMatch ncbigene:127544 semapv:UnspecifiedMatching +OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:30510 semapv:UnspecifiedMatching +OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:SPATC1 semapv:UnspecifiedMatching +OMIM:610874 SPATC1 skos:exactMatch ncbigene:375686 semapv:UnspecifiedMatching +OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching +OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching +OMIM:610875 SAPS1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching +OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:21033 semapv:UnspecifiedMatching +OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:HACE1 semapv:UnspecifiedMatching +OMIM:610876 HACE1 skos:exactMatch ncbigene:57531 semapv:UnspecifiedMatching +OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching +OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching +OMIM:610877 SAPS2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching +OMIM:610878 vesicoureteral reflux 2 skos:exactMatch MONDO:0012573 semapv:UnspecifiedMatching +OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching +OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching +OMIM:610879 SAPS3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching +OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:1174 semapv:UnspecifiedMatching +OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:C11orf24 semapv:UnspecifiedMatching +OMIM:610880 C11ORF24 skos:exactMatch ncbigene:53838 semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch UMLS:C1539900 semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch UMLS:C4540474 semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:24283 semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:KMT5B semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch ncbigene:51111 semapv:UnspecifiedMatching +OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:11321 semapv:UnspecifiedMatching +OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:SSNA1 semapv:UnspecifiedMatching +OMIM:610882 SSNA1 skos:exactMatch ncbigene:8636 semapv:UnspecifiedMatching +OMIM:610883 potocki-lupski syndrome skos:exactMatch MONDO:0012574 semapv:UnspecifiedMatching +OMIM:610883 potocki-lupski syndrome skos:exactMatch Orphanet:1713 semapv:UnspecifiedMatching +OMIM:610883 potocki-lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching +OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:28467 semapv:UnspecifiedMatching +OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:FAAP24 semapv:UnspecifiedMatching +OMIM:610884 FAAP24 skos:exactMatch ncbigene:91442 semapv:UnspecifiedMatching +OMIM:610885 EME1 skos:exactMatch UMLS:C1428432 semapv:UnspecifiedMatching +OMIM:610885 EME1 skos:exactMatch hgnc.symbol:24965 semapv:UnspecifiedMatching +OMIM:610885 EME1 skos:exactMatch hgnc.symbol:EME1 semapv:UnspecifiedMatching +OMIM:610885 EME1 skos:exactMatch ncbigene:146956 semapv:UnspecifiedMatching +OMIM:610886 EME2 skos:exactMatch UMLS:C1428650 semapv:UnspecifiedMatching +OMIM:610886 EME2 skos:exactMatch hgnc.symbol:27289 semapv:UnspecifiedMatching +OMIM:610886 EME2 skos:exactMatch hgnc.symbol:EME2 semapv:UnspecifiedMatching +OMIM:610886 EME2 skos:exactMatch ncbigene:197342 semapv:UnspecifiedMatching +OMIM:610887 POLN skos:exactMatch hgnc.symbol:18870 semapv:UnspecifiedMatching +OMIM:610887 POLN skos:exactMatch hgnc.symbol:POLN semapv:UnspecifiedMatching +OMIM:610887 POLN skos:exactMatch ncbigene:353497 semapv:UnspecifiedMatching +OMIM:610888 gastric cancer-related gene 224 skos:exactMatch ncbigene:360219 semapv:UnspecifiedMatching +OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:20628 semapv:UnspecifiedMatching +OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:IPO11 semapv:UnspecifiedMatching +OMIM:610889 IPO11 skos:exactMatch ncbigene:51194 semapv:UnspecifiedMatching +OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:23271 semapv:UnspecifiedMatching +OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:RGS7BP semapv:UnspecifiedMatching +OMIM:610890 RGS7BP skos:exactMatch ncbigene:401190 semapv:UnspecifiedMatching +OMIM:610891 FAM102A skos:exactMatch hgnc.symbol:EEIG1 semapv:UnspecifiedMatching +OMIM:610891 FAM102A skos:exactMatch ncbigene:399665 semapv:UnspecifiedMatching +OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:33429 semapv:UnspecifiedMatching +OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:SYT14P1 semapv:UnspecifiedMatching +OMIM:610892 SYT14L skos:exactMatch ncbigene:401135 semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch UMLS:C1538455 semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:30216 semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:CHMP2A semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch ncbigene:27243 semapv:UnspecifiedMatching +OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:29862 semapv:UnspecifiedMatching +OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:NRG4 semapv:UnspecifiedMatching +OMIM:610894 NRG4 skos:exactMatch ncbigene:145957 semapv:UnspecifiedMatching +OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:30916 semapv:UnspecifiedMatching +OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:WFIKKN2 semapv:UnspecifiedMatching +OMIM:610895 WFIKKN2 skos:exactMatch ncbigene:124857 semapv:UnspecifiedMatching +OMIM:610896 branchiootorenal syndrome 2 skos:exactMatch MONDO:0012575 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch UMLS:C1538458 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch UMLS:C4017230 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:16171 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:CHMP4B semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch ncbigene:128866 semapv:UnspecifiedMatching +OMIM:610898 supranuclear palsy, progressive, 3 skos:exactMatch MONDO:0012576 semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch UMLS:C1538459 semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:30599 semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:CHMP4C semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch ncbigene:92421 semapv:UnspecifiedMatching +OMIM:610900 CHMP5 skos:exactMatch UMLS:C1538460 semapv:UnspecifiedMatching +OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:26942 semapv:UnspecifiedMatching +OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:CHMP5 semapv:UnspecifiedMatching +OMIM:610900 CHMP5 skos:exactMatch ncbigene:51510 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch UMLS:C1538461 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:25675 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:CHMP6 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch ncbigene:79643 semapv:UnspecifiedMatching +OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:20954 semapv:UnspecifiedMatching +OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:VTA1 semapv:UnspecifiedMatching +OMIM:610902 VTA1 skos:exactMatch ncbigene:51534 semapv:UnspecifiedMatching +OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:20312 semapv:UnspecifiedMatching +OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:VPS36 semapv:UnspecifiedMatching +OMIM:610903 VPS36 skos:exactMatch ncbigene:51028 semapv:UnspecifiedMatching +OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:17028 semapv:UnspecifiedMatching +OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:SNF8 semapv:UnspecifiedMatching +OMIM:610904 SNF8 skos:exactMatch ncbigene:11267 semapv:UnspecifiedMatching +OMIM:610906 asthma-related traits, susceptibility to, 4 skos:exactMatch MONDO:0012577 semapv:UnspecifiedMatching +OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:28122 semapv:UnspecifiedMatching +OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:VPS25 semapv:UnspecifiedMatching +OMIM:610907 VPS25 skos:exactMatch ncbigene:84313 semapv:UnspecifiedMatching +OMIM:610908 autism, susceptibility to, 13 skos:exactMatch MONDO:0012578 semapv:UnspecifiedMatching +OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:25782 semapv:UnspecifiedMatching +OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:MCMBP semapv:UnspecifiedMatching +OMIM:610909 MCMBP skos:exactMatch ncbigene:79892 semapv:UnspecifiedMatching +OMIM:610910 pulmonary alveolar proteinosis, acquired skos:exactMatch MONDO:0012579 semapv:UnspecifiedMatching +OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:29216 semapv:UnspecifiedMatching +OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:ARHGAP31 semapv:UnspecifiedMatching +OMIM:610911 ARHGAP31 skos:exactMatch ncbigene:57514 semapv:UnspecifiedMatching +OMIM:610912 AMTN skos:exactMatch hgnc.symbol:33188 semapv:UnspecifiedMatching +OMIM:610912 AMTN skos:exactMatch hgnc.symbol:AMTN semapv:UnspecifiedMatching +OMIM:610912 AMTN skos:exactMatch ncbigene:401138 semapv:UnspecifiedMatching +OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch MONDO:0024465 semapv:UnspecifiedMatching +OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:25474 semapv:UnspecifiedMatching +OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:ENOX1 semapv:UnspecifiedMatching +OMIM:610914 ENOX1 skos:exactMatch ncbigene:55068 semapv:UnspecifiedMatching +OMIM:610915 osteogenesis imperfecta, iia 8 skos:exactMatch MONDO:0012581 semapv:UnspecifiedMatching +OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:25994 semapv:UnspecifiedMatching +OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:NSUN2 semapv:UnspecifiedMatching +OMIM:610916 NSUN2 skos:exactMatch ncbigene:54888 semapv:UnspecifiedMatching +OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:16519 semapv:UnspecifiedMatching +OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:RAB34 semapv:UnspecifiedMatching +OMIM:610917 RAB34 skos:exactMatch ncbigene:83871 semapv:UnspecifiedMatching +OMIM:610918 SELENOM skos:exactMatch hgnc.symbol:30397 semapv:UnspecifiedMatching +OMIM:610918 SELENOM skos:exactMatch hgnc.symbol:SELENOM semapv:UnspecifiedMatching +OMIM:610918 SELENOM skos:exactMatch ncbigene:140606 semapv:UnspecifiedMatching +OMIM:610919 GTPBP5 skos:exactMatch hgnc.symbol:16239 semapv:UnspecifiedMatching +OMIM:610919 GTPBP5 skos:exactMatch hgnc.symbol:MTG2 semapv:UnspecifiedMatching +OMIM:610919 GTPBP5 skos:exactMatch ncbigene:26164 semapv:UnspecifiedMatching +OMIM:610920 GTPBP10 skos:exactMatch hgnc.symbol:25106 semapv:UnspecifiedMatching +OMIM:610920 GTPBP10 skos:exactMatch hgnc.symbol:GTPBP10 semapv:UnspecifiedMatching +OMIM:610920 GTPBP10 skos:exactMatch ncbigene:85865 semapv:UnspecifiedMatching +OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 skos:exactMatch MONDO:0012582 semapv:UnspecifiedMatching +OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:1190 semapv:UnspecifiedMatching +OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:NPAP1 semapv:UnspecifiedMatching +OMIM:610922 NPAP1 skos:exactMatch ncbigene:23742 semapv:UnspecifiedMatching +OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:20584 semapv:UnspecifiedMatching +OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:SLC35B4 semapv:UnspecifiedMatching +OMIM:610923 SLC35B4 skos:exactMatch ncbigene:84912 semapv:UnspecifiedMatching +OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:15864 semapv:UnspecifiedMatching +OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:RBCK1 semapv:UnspecifiedMatching +OMIM:610924 RBCK1 skos:exactMatch ncbigene:10616 semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch UMLS:C1425470 semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch UMLS:C4225324 semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:18358 semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:IL17RC semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch ncbigene:84818 semapv:UnspecifiedMatching +OMIM:610926 tooth agenesis, selective, 5 skos:exactMatch MONDO:0012583 semapv:UnspecifiedMatching +OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch MONDO:0012584 semapv:UnspecifiedMatching +OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:18122 semapv:UnspecifiedMatching +OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:SOX17 semapv:UnspecifiedMatching +OMIM:610928 SOX17 skos:exactMatch ncbigene:64321 semapv:UnspecifiedMatching +OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:21667 semapv:UnspecifiedMatching +OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:ORAI2 semapv:UnspecifiedMatching +OMIM:610929 ORAI2 skos:exactMatch ncbigene:80228 semapv:UnspecifiedMatching +OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:28185 semapv:UnspecifiedMatching +OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:ORAI3 semapv:UnspecifiedMatching +OMIM:610930 ORAI3 skos:exactMatch ncbigene:93129 semapv:UnspecifiedMatching +OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:19899 semapv:UnspecifiedMatching +OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:ZFAT semapv:UnspecifiedMatching +OMIM:610931 ZFAT1 skos:exactMatch ncbigene:57623 semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch UMLS:C1823556 semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:9620 semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:TWF1 semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch ncbigene:5756 semapv:UnspecifiedMatching +OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:25135 semapv:UnspecifiedMatching +OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:LRSAM1 semapv:UnspecifiedMatching +OMIM:610933 LRSAM1 skos:exactMatch ncbigene:90678 semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch UMLS:C1826445 semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch UMLS:C1969060 semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:22448 semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:NOBOX semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch ncbigene:135935 semapv:UnspecifiedMatching +OMIM:610935 ZACN skos:exactMatch hgnc.symbol:29504 semapv:UnspecifiedMatching +OMIM:610935 ZACN skos:exactMatch hgnc.symbol:ZACN semapv:UnspecifiedMatching +OMIM:610935 ZACN skos:exactMatch ncbigene:353174 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch UMLS:C1426033 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch UMLS:C4015019 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:19129 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:PSAT1 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch ncbigene:29968 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C2242767 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C4017235 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:29168 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:RPGRIP1L semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch ncbigene:23322 semapv:UnspecifiedMatching +OMIM:610938 coronary heart disease, susceptibility to, 7 skos:exactMatch MONDO:0012585 semapv:UnspecifiedMatching +OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:31562 semapv:UnspecifiedMatching +OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:MIR192 semapv:UnspecifiedMatching +OMIM:610939 MIR192 skos:exactMatch ncbigene:406967 semapv:UnspecifiedMatching +OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:31564 semapv:UnspecifiedMatching +OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:MIR194-1 semapv:UnspecifiedMatching +OMIM:610940 MIR194-1 skos:exactMatch ncbigene:406969 semapv:UnspecifiedMatching +OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:31565 semapv:UnspecifiedMatching +OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:MIR194-2 semapv:UnspecifiedMatching +OMIM:610941 MIR194-2 skos:exactMatch ncbigene:406970 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch UMLS:C1537842 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch UMLS:C4225493 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:31582 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:MIR204 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch ncbigene:406987 semapv:UnspecifiedMatching +OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:31592 semapv:UnspecifiedMatching +OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:MIR215 semapv:UnspecifiedMatching +OMIM:610943 MIR215 skos:exactMatch ncbigene:406997 semapv:UnspecifiedMatching +OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:31593 semapv:UnspecifiedMatching +OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:MIR216A semapv:UnspecifiedMatching +OMIM:610944 MIR216 skos:exactMatch ncbigene:406998 semapv:UnspecifiedMatching +OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:31617 semapv:UnspecifiedMatching +OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:MIR296 semapv:UnspecifiedMatching +OMIM:610945 MIR296 skos:exactMatch ncbigene:407022 semapv:UnspecifiedMatching +OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:31759 semapv:UnspecifiedMatching +OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:MIR133B semapv:UnspecifiedMatching +OMIM:610946 MIR133B skos:exactMatch ncbigene:442890 semapv:UnspecifiedMatching +OMIM:610947 coronary artery disease, autosomal dominant 2 skos:exactMatch MONDO:0012586 semapv:UnspecifiedMatching +OMIM:610948 hypertension, essential, susceptibility to, 7 skos:exactMatch MONDO:0012587 semapv:UnspecifiedMatching +OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:23143 semapv:UnspecifiedMatching +OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:SYT14 semapv:UnspecifiedMatching +OMIM:610949 SYT14 skos:exactMatch ncbigene:255928 semapv:UnspecifiedMatching +OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:23142 semapv:UnspecifiedMatching +OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:SYT16 semapv:UnspecifiedMatching +OMIM:610950 SYT16 skos:exactMatch ncbigene:83851 semapv:UnspecifiedMatching +OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch MONDO:0012588 semapv:UnspecifiedMatching +OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:228366 semapv:UnspecifiedMatching +OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching +OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:15762 semapv:UnspecifiedMatching +OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:CRNKL1 semapv:UnspecifiedMatching +OMIM:610952 CRNKL1 skos:exactMatch ncbigene:51340 semapv:UnspecifiedMatching +OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:26220 semapv:UnspecifiedMatching +OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:PIF1 semapv:UnspecifiedMatching +OMIM:610953 PIF1 skos:exactMatch ncbigene:80119 semapv:UnspecifiedMatching +OMIM:610954 pitt-hopkins syndrome skos:exactMatch MONDO:0012589 semapv:UnspecifiedMatching +OMIM:610954 pitt-hopkins syndrome skos:exactMatch Orphanet:2896 semapv:UnspecifiedMatching +OMIM:610954 pitt-hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching +OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:19942 semapv:UnspecifiedMatching +OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:TRAPPC3 semapv:UnspecifiedMatching +OMIM:610955 TRAPPC3 skos:exactMatch ncbigene:27095 semapv:UnspecifiedMatching +OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:25538 semapv:UnspecifiedMatching +OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:DARS2 semapv:UnspecifiedMatching +OMIM:610956 DARS2 skos:exactMatch ncbigene:55157 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch UMLS:C1823881 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch UMLS:C3150802 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:24249 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:YARS2 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch ncbigene:51067 semapv:UnspecifiedMatching +OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:28157 semapv:UnspecifiedMatching +OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:GPAT3 semapv:UnspecifiedMatching +OMIM:610958 AGPAT9 skos:exactMatch ncbigene:84803 semapv:UnspecifiedMatching +OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:31869 semapv:UnspecifiedMatching +OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:MIR376A1 semapv:UnspecifiedMatching +OMIM:610959 MIR376A1 skos:exactMatch ncbigene:494325 semapv:UnspecifiedMatching +OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:32532 semapv:UnspecifiedMatching +OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:MIR376A2 semapv:UnspecifiedMatching +OMIM:610960 MIR376A2 skos:exactMatch ncbigene:664615 semapv:UnspecifiedMatching +OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:32066 semapv:UnspecifiedMatching +OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:MIR376B semapv:UnspecifiedMatching +OMIM:610961 MIR376B skos:exactMatch ncbigene:574435 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch UMLS:C1822788 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:24644 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:SMG5 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch ncbigene:23381 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch UMLS:C1822789 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:17809 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:SMG6 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch ncbigene:23293 semapv:UnspecifiedMatching +OMIM:610964 SMG7 skos:exactMatch UMLS:C1822790 semapv:UnspecifiedMatching +OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:16792 semapv:UnspecifiedMatching +OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:SMG7 semapv:UnspecifiedMatching +OMIM:610964 SMG7 skos:exactMatch ncbigene:9887 semapv:UnspecifiedMatching +OMIM:610965 xfe progeroid syndrome skos:exactMatch MONDO:0012590 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch UMLS:C1970415 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch UMLS:C2752001 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch UMLS:C4225492 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch hgnc.symbol:24678 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch hgnc.symbol:FTO semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch ncbigene:79068 semapv:UnspecifiedMatching +OMIM:610967 osteogenesis imperfecta, iia 5 skos:exactMatch MONDO:0012591 semapv:UnspecifiedMatching +OMIM:610968 osteogenesis imperfecta, iia 11 skos:exactMatch MONDO:0012592 semapv:UnspecifiedMatching +OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:19894 semapv:UnspecifiedMatching +OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:TRAPPC1 semapv:UnspecifiedMatching +OMIM:610969 TRAPPC1 skos:exactMatch ncbigene:58485 semapv:UnspecifiedMatching +OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:30887 semapv:UnspecifiedMatching +OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:TRAPPC2L semapv:UnspecifiedMatching +OMIM:610970 TRAPPC2L skos:exactMatch ncbigene:51693 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C1426551 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:19943 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:TRAPPC4 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch ncbigene:51399 semapv:UnspecifiedMatching +OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:30801 semapv:UnspecifiedMatching +OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:AJAP1 semapv:UnspecifiedMatching +OMIM:610972 AJAP1 skos:exactMatch ncbigene:55966 semapv:UnspecifiedMatching +OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:26542 semapv:UnspecifiedMatching +OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:MPP7 semapv:UnspecifiedMatching +OMIM:610973 MPP7 skos:exactMatch ncbigene:143098 semapv:UnspecifiedMatching +OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:24605 semapv:UnspecifiedMatching +OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:ZNF521 semapv:UnspecifiedMatching +OMIM:610974 ZNF521 skos:exactMatch ncbigene:25925 semapv:UnspecifiedMatching +OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:32942 semapv:UnspecifiedMatching +OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:SEBOX semapv:UnspecifiedMatching +OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch ncbigene:645832 semapv:UnspecifiedMatching +OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:24100 semapv:UnspecifiedMatching +OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:APOBEC3H semapv:UnspecifiedMatching +OMIM:610976 APOBEC3H skos:exactMatch ncbigene:164668 semapv:UnspecifiedMatching +OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:16894 semapv:UnspecifiedMatching +OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:MFSD10 semapv:UnspecifiedMatching +OMIM:610977 tetracycline transporter-like protein skos:exactMatch ncbigene:10227 semapv:UnspecifiedMatching +OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction skos:exactMatch MONDO:0012593 semapv:UnspecifiedMatching +OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:29023 semapv:UnspecifiedMatching +OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:PPIP5K1 semapv:UnspecifiedMatching +OMIM:610979 PPIP5K1 skos:exactMatch ncbigene:9677 semapv:UnspecifiedMatching +OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:13335 semapv:UnspecifiedMatching +OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:KCNQ1DN semapv:UnspecifiedMatching +OMIM:610980 KCNQ1DN skos:exactMatch ncbigene:55539 semapv:UnspecifiedMatching +OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:28389 semapv:UnspecifiedMatching +OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:WBP2NL semapv:UnspecifiedMatching +OMIM:610981 WBP2NL skos:exactMatch ncbigene:164684 semapv:UnspecifiedMatching +OMIM:610982 INF2 skos:exactMatch hgnc.symbol:23791 semapv:UnspecifiedMatching +OMIM:610982 INF2 skos:exactMatch hgnc.symbol:INF2 semapv:UnspecifiedMatching +OMIM:610982 INF2 skos:exactMatch ncbigene:64423 semapv:UnspecifiedMatching +OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:31782 semapv:UnspecifiedMatching +OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:MIR376C semapv:UnspecifiedMatching +OMIM:610983 MIR376C skos:exactMatch ncbigene:442913 semapv:UnspecifiedMatching +OMIM:610984 complement factor 1 deficiency skos:exactMatch MONDO:0012594 semapv:UnspecifiedMatching +OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:30866 semapv:UnspecifiedMatching +OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:UEVLD semapv:UnspecifiedMatching +OMIM:610985 UEVLD skos:exactMatch ncbigene:55293 semapv:UnspecifiedMatching +OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:18608 semapv:UnspecifiedMatching +OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:LRRK1 semapv:UnspecifiedMatching +OMIM:610986 LRRK1 skos:exactMatch ncbigene:79705 semapv:UnspecifiedMatching +OMIM:610987 ASAH2B skos:exactMatch UMLS:C1540202 semapv:UnspecifiedMatching +OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:23456 semapv:UnspecifiedMatching +OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:ASAH2B semapv:UnspecifiedMatching +OMIM:610987 ASAH2B skos:exactMatch ncbigene:653308 semapv:UnspecifiedMatching +OMIM:610988 leprosy, susceptibility to, 4 skos:exactMatch MONDO:0012595 semapv:UnspecifiedMatching +OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:17880 semapv:UnspecifiedMatching +OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:LMTK2 semapv:UnspecifiedMatching +OMIM:610989 LMTK2 skos:exactMatch ncbigene:22853 semapv:UnspecifiedMatching +OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:29413 semapv:UnspecifiedMatching +OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:PPP1R18 semapv:UnspecifiedMatching +OMIM:610990 PPP1R18 skos:exactMatch ncbigene:170954 semapv:UnspecifiedMatching +OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:29092 semapv:UnspecifiedMatching +OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:OBSL1 semapv:UnspecifiedMatching +OMIM:610991 OBSL1 skos:exactMatch ncbigene:23363 semapv:UnspecifiedMatching +OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch MONDO:0012596 semapv:UnspecifiedMatching +OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch Orphanet:284417 semapv:UnspecifiedMatching +OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching +OMIM:610993 USP44 skos:exactMatch hgnc.symbol:20064 semapv:UnspecifiedMatching +OMIM:610993 USP44 skos:exactMatch hgnc.symbol:USP44 semapv:UnspecifiedMatching +OMIM:610993 USP44 skos:exactMatch ncbigene:84101 semapv:UnspecifiedMatching +OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:16735 semapv:UnspecifiedMatching +OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:PEDS1 semapv:UnspecifiedMatching +OMIM:610994 TMEM189 skos:exactMatch ncbigene:387521 semapv:UnspecifiedMatching +OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:20588 semapv:UnspecifiedMatching +OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:PCYOX1 semapv:UnspecifiedMatching +OMIM:610995 PCYOX1 skos:exactMatch ncbigene:51449 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch UMLS:C1970251 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:16219 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:DTD1 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch ncbigene:92675 semapv:UnspecifiedMatching +OMIM:610997 prostate cancer, hereditary, 9 skos:exactMatch MONDO:0012597 semapv:UnspecifiedMatching +OMIM:610998 METRN skos:exactMatch hgnc.symbol:14151 semapv:UnspecifiedMatching +OMIM:610998 METRN skos:exactMatch hgnc.symbol:METRN semapv:UnspecifiedMatching +OMIM:610998 METRN skos:exactMatch ncbigene:79006 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch UMLS:C1426501 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:19876 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:EPC1 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch ncbigene:80314 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch UMLS:C1539360 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:24543 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:EPC2 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch ncbigene:26122 semapv:UnspecifiedMatching +OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:25674 semapv:UnspecifiedMatching +OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:MEAF6 semapv:UnspecifiedMatching +OMIM:611001 MEAF6 skos:exactMatch ncbigene:64769 semapv:UnspecifiedMatching +OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:14158 semapv:UnspecifiedMatching +OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:TMEM204 semapv:UnspecifiedMatching +OMIM:611002 TMEM204 skos:exactMatch ncbigene:79652 semapv:UnspecifiedMatching +OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:28040 semapv:UnspecifiedMatching +OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:MEX3C semapv:UnspecifiedMatching +OMIM:611005 MEX3C skos:exactMatch ncbigene:51320 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch UMLS:C1428729 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:28660 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:ISCA1 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch ncbigene:81689 semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch UMLS:C1970246 semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:33482 semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:MEX3A semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch ncbigene:92312 semapv:UnspecifiedMatching +OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:25297 semapv:UnspecifiedMatching +OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:MEX3B semapv:UnspecifiedMatching +OMIM:611008 MEX3B skos:exactMatch ncbigene:84206 semapv:UnspecifiedMatching +OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:16734 semapv:UnspecifiedMatching +OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:MEX3D semapv:UnspecifiedMatching +OMIM:611009 MEX3D skos:exactMatch ncbigene:399664 semapv:UnspecifiedMatching +OMIM:611010 fibromatosis, gingival, 4 skos:exactMatch MONDO:0012598 semapv:UnspecifiedMatching +OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:17039 semapv:UnspecifiedMatching +OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:TMEM259 semapv:UnspecifiedMatching +OMIM:611011 TMEM259 skos:exactMatch ncbigene:91304 semapv:UnspecifiedMatching +OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:18636 semapv:UnspecifiedMatching +OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:RGSL1 semapv:UnspecifiedMatching +OMIM:611012 RGSL1 skos:exactMatch ncbigene:353299 semapv:UnspecifiedMatching +OMIM:611014 hypertension, essential, susceptibility to, 8 skos:exactMatch MONDO:0012599 semapv:UnspecifiedMatching +OMIM:611015 autism, susceptibility to, 9 skos:exactMatch MONDO:0012600 semapv:UnspecifiedMatching +OMIM:611016 autism, susceptibility to, 10 skos:exactMatch MONDO:0012601 semapv:UnspecifiedMatching +OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:28531 semapv:UnspecifiedMatching +OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:TYSND1 semapv:UnspecifiedMatching +OMIM:611017 TYSND1 skos:exactMatch ncbigene:219743 semapv:UnspecifiedMatching +OMIM:611018 PAIP2B skos:exactMatch hgnc.symbol:29200 semapv:UnspecifiedMatching +OMIM:611018 PAIP2B skos:exactMatch hgnc.symbol:PAIP2B semapv:UnspecifiedMatching +OMIM:611018 PAIP2B skos:exactMatch ncbigene:400961 semapv:UnspecifiedMatching +OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:21723 semapv:UnspecifiedMatching +OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:ATP6V0E2 semapv:UnspecifiedMatching +OMIM:611019 ATP6V0E2 skos:exactMatch ncbigene:155066 semapv:UnspecifiedMatching +OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:31586 semapv:UnspecifiedMatching +OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:MIR21 semapv:UnspecifiedMatching +OMIM:611020 MIR21 skos:exactMatch ncbigene:406991 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch UMLS:C1538068 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:24250 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:NMD3 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch ncbigene:51068 semapv:UnspecifiedMatching +OMIM:611022 deafness, autosomal recessive 24 skos:exactMatch MONDO:0012602 semapv:UnspecifiedMatching +OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:23141 semapv:UnspecifiedMatching +OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:TRMT5 semapv:UnspecifiedMatching +OMIM:611023 TRMT5 skos:exactMatch ncbigene:57570 semapv:UnspecifiedMatching +OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:28854 semapv:UnspecifiedMatching +OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:ZNF667 semapv:UnspecifiedMatching +OMIM:611024 ZNF667 skos:exactMatch ncbigene:63934 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch UMLS:C1428701 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:28388 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:ENKUR semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch ncbigene:219670 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch UMLS:C1427405 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch hgnc.symbol:21197 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch hgnc.symbol:FA2H semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch ncbigene:79152 semapv:UnspecifiedMatching +OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:29547 semapv:UnspecifiedMatching +OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:SHCBP1 semapv:UnspecifiedMatching +OMIM:611027 SHCBP1 skos:exactMatch ncbigene:79801 semapv:UnspecifiedMatching +OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:16667 semapv:UnspecifiedMatching +OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:TMEM30A semapv:UnspecifiedMatching +OMIM:611028 TMEM30A skos:exactMatch ncbigene:55754 semapv:UnspecifiedMatching +OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:27254 semapv:UnspecifiedMatching +OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:TMEM30B semapv:UnspecifiedMatching +OMIM:611029 TMEM30B skos:exactMatch ncbigene:161291 semapv:UnspecifiedMatching +OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:30443 semapv:UnspecifiedMatching +OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:TMEM30CP semapv:UnspecifiedMatching +OMIM:611030 TMEM30C skos:exactMatch ncbigene:644444 semapv:UnspecifiedMatching +OMIM:611031 episodic kinesigenic dyskinesia 2 skos:exactMatch MONDO:0012603 semapv:UnspecifiedMatching +OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:25184 semapv:UnspecifiedMatching +OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:SPATA17 semapv:UnspecifiedMatching +OMIM:611032 SPATA17 skos:exactMatch ncbigene:128153 semapv:UnspecifiedMatching +OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:13231 semapv:UnspecifiedMatching +OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:C11orf21 semapv:UnspecifiedMatching +OMIM:611033 C11ORF21 skos:exactMatch ncbigene:29125 semapv:UnspecifiedMatching +OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:10931 semapv:UnspecifiedMatching +OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:SLC17A3 semapv:UnspecifiedMatching +OMIM:611034 SLC17A3 skos:exactMatch ncbigene:10786 semapv:UnspecifiedMatching +OMIM:611035 APLF skos:exactMatch hgnc.symbol:28724 semapv:UnspecifiedMatching +OMIM:611035 APLF skos:exactMatch hgnc.symbol:APLF semapv:UnspecifiedMatching +OMIM:611035 APLF skos:exactMatch ncbigene:200558 semapv:UnspecifiedMatching +OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:15956 semapv:UnspecifiedMatching +OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:SLC2A13 semapv:UnspecifiedMatching +OMIM:611036 SLC2A13 skos:exactMatch ncbigene:114134 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch UMLS:C1427063 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch UMLS:C4225206 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:20661 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:SLC25A26 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch ncbigene:115286 semapv:UnspecifiedMatching +OMIM:611038 microphthalmia, syndromic 16 skos:exactMatch MONDO:0012604 semapv:UnspecifiedMatching +OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:18301 semapv:UnspecifiedMatching +OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:SLC2A14 semapv:UnspecifiedMatching +OMIM:611039 SLC2A14 skos:exactMatch ncbigene:144195 semapv:UnspecifiedMatching +OMIM:611040 microphthalmia, isolated 5 skos:exactMatch MONDO:0012605 semapv:UnspecifiedMatching +OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:19020 semapv:UnspecifiedMatching +OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:TRIM47 semapv:UnspecifiedMatching +OMIM:611041 TRIM47 skos:exactMatch ncbigene:91107 semapv:UnspecifiedMatching +OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:32046 semapv:UnspecifiedMatching +OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:LELP1 semapv:UnspecifiedMatching +OMIM:611042 LELP1 skos:exactMatch ncbigene:149018 semapv:UnspecifiedMatching +OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:15986 semapv:UnspecifiedMatching +OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:LIN28A semapv:UnspecifiedMatching +OMIM:611043 LIN28A skos:exactMatch ncbigene:79727 semapv:UnspecifiedMatching +OMIM:611044 LIN28B skos:exactMatch UMLS:C1825819 semapv:UnspecifiedMatching +OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:32207 semapv:UnspecifiedMatching +OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:LIN28B semapv:UnspecifiedMatching +OMIM:611044 LIN28B skos:exactMatch ncbigene:389421 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch UMLS:C1428419 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:24861 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:G6PC3 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch ncbigene:92579 semapv:UnspecifiedMatching +OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch MONDO:0012606 semapv:UnspecifiedMatching +OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:16798 semapv:UnspecifiedMatching +OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:RAET1L semapv:UnspecifiedMatching +OMIM:611047 RAET1L skos:exactMatch ncbigene:154064 semapv:UnspecifiedMatching +OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:14375 semapv:UnspecifiedMatching +OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:PPP1R15A semapv:UnspecifiedMatching +OMIM:611048 PPP1R15A skos:exactMatch ncbigene:23645 semapv:UnspecifiedMatching +OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:10930 semapv:UnspecifiedMatching +OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:SLC17A2 semapv:UnspecifiedMatching +OMIM:611049 SLC17A2 skos:exactMatch ncbigene:10246 semapv:UnspecifiedMatching +OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:33955 semapv:UnspecifiedMatching +OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:LUZP6 semapv:UnspecifiedMatching +OMIM:611050 LUZP6 skos:exactMatch ncbigene:767558 semapv:UnspecifiedMatching +OMIM:611051 CCDC50 skos:exactMatch hgnc.symbol:18111 semapv:UnspecifiedMatching +OMIM:611051 CCDC50 skos:exactMatch hgnc.symbol:CCDC50 semapv:UnspecifiedMatching +OMIM:611051 CCDC50 skos:exactMatch ncbigene:152137 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch UMLS:C1822684 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch UMLS:C5394583 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch UMLS:C5394584 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:29010 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:SETD1A semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch ncbigene:9739 semapv:UnspecifiedMatching +OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:23625 semapv:UnspecifiedMatching +OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:RUSC2 semapv:UnspecifiedMatching +OMIM:611053 RUSC2 skos:exactMatch ncbigene:9853 semapv:UnspecifiedMatching +OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:9245 semapv:UnspecifiedMatching +OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:PPFIA1 semapv:UnspecifiedMatching +OMIM:611054 PPFIA1 skos:exactMatch ncbigene:8500 semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch UMLS:C1822685 semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:29187 semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:SETD1B semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch ncbigene:23067 semapv:UnspecifiedMatching +OMIM:611056 SCLY skos:exactMatch hgnc.symbol:18161 semapv:UnspecifiedMatching +OMIM:611056 SCLY skos:exactMatch hgnc.symbol:SCLY semapv:UnspecifiedMatching +OMIM:611056 SCLY skos:exactMatch ncbigene:51540 semapv:UnspecifiedMatching +OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:30024 semapv:UnspecifiedMatching +OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:PEX5L semapv:UnspecifiedMatching +OMIM:611058 PEX5L skos:exactMatch ncbigene:51555 semapv:UnspecifiedMatching +OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:28826 semapv:UnspecifiedMatching +OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:WDR82 semapv:UnspecifiedMatching +OMIM:611059 WDR82 skos:exactMatch ncbigene:80335 semapv:UnspecifiedMatching +OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:15573 semapv:UnspecifiedMatching +OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:SETBP1 semapv:UnspecifiedMatching +OMIM:611060 SETBP1 skos:exactMatch ncbigene:26040 semapv:UnspecifiedMatching +OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:22140 semapv:UnspecifiedMatching +OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:FAM20C semapv:UnspecifiedMatching +OMIM:611061 FAM20C skos:exactMatch ncbigene:56975 semapv:UnspecifiedMatching +OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:23015 semapv:UnspecifiedMatching +OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:FAM20A semapv:UnspecifiedMatching +OMIM:611062 FAM20A skos:exactMatch ncbigene:54757 semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch UMLS:C1427852 semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:23017 semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:FAM20B semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch ncbigene:9917 semapv:UnspecifiedMatching +OMIM:611064 asthma-related traits, susceptibility to, 5 skos:exactMatch MONDO:0012607 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch UMLS:C1538710 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:25415 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:PPM1K semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch ncbigene:152926 semapv:UnspecifiedMatching +OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:29149 semapv:UnspecifiedMatching +OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:PHLPP2 semapv:UnspecifiedMatching +OMIM:611066 PHLPPL skos:exactMatch ncbigene:23035 semapv:UnspecifiedMatching +OMIM:611067 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch MONDO:0012608 semapv:UnspecifiedMatching +OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:10182 semapv:UnspecifiedMatching +OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:SNORD43 semapv:UnspecifiedMatching +OMIM:611068 SNORD43 skos:exactMatch ncbigene:26807 semapv:UnspecifiedMatching +OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:50421 semapv:UnspecifiedMatching +OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:SNORD139 semapv:UnspecifiedMatching +OMIM:611069 rna, u86 small nucleolar skos:exactMatch ncbigene:116936 semapv:UnspecifiedMatching +OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:17131 semapv:UnspecifiedMatching +OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:SNORD83A semapv:UnspecifiedMatching +OMIM:611070 SNORD83A skos:exactMatch ncbigene:116937 semapv:UnspecifiedMatching +OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:17132 semapv:UnspecifiedMatching +OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:SNORD83B semapv:UnspecifiedMatching +OMIM:611071 SNORD83B skos:exactMatch ncbigene:116938 semapv:UnspecifiedMatching +OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:26979 semapv:UnspecifiedMatching +OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:DNAJC24 semapv:UnspecifiedMatching +OMIM:611072 DNAJC24 skos:exactMatch ncbigene:120526 semapv:UnspecifiedMatching +OMIM:611073 alzheimer disease 12 skos:exactMatch MONDO:0012609 semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch UMLS:C1970208 semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch hgnc.symbol:20450 semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch hgnc.symbol:BSX semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch ncbigene:390259 semapv:UnspecifiedMatching +OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:24270 semapv:UnspecifiedMatching +OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:DPH5 semapv:UnspecifiedMatching +OMIM:611075 DPH5 skos:exactMatch ncbigene:51611 semapv:UnspecifiedMatching +OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:30826 semapv:UnspecifiedMatching +OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:NT5DC3 semapv:UnspecifiedMatching +OMIM:611076 NT5DC3 skos:exactMatch ncbigene:51559 semapv:UnspecifiedMatching +OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:26467 semapv:UnspecifiedMatching +OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:CHCHD4 semapv:UnspecifiedMatching +OMIM:611077 CHCHD4 skos:exactMatch ncbigene:131474 semapv:UnspecifiedMatching +OMIM:611078 CBWD1 skos:exactMatch hgnc.symbol:ZNG1A semapv:UnspecifiedMatching +OMIM:611078 CBWD1 skos:exactMatch ncbigene:55871 semapv:UnspecifiedMatching +OMIM:611079 CBWD2 skos:exactMatch hgnc.symbol:ZNG1B semapv:UnspecifiedMatching +OMIM:611079 CBWD2 skos:exactMatch ncbigene:150472 semapv:UnspecifiedMatching +OMIM:611080 CBWD3 skos:exactMatch hgnc.symbol:ZNG1C semapv:UnspecifiedMatching +OMIM:611080 CBWD3 skos:exactMatch ncbigene:445571 semapv:UnspecifiedMatching +OMIM:611081 inflammatory bowel disease (crohn disease) 10 skos:exactMatch MONDO:0012610 semapv:UnspecifiedMatching +OMIM:611081 inflammatory bowel disease (crohn disease) 10 skos:exactMatch UMLS:C1970207 semapv:UnspecifiedMatching +OMIM:611082 MIAT skos:exactMatch hgnc.symbol:33425 semapv:UnspecifiedMatching +OMIM:611082 MIAT skos:exactMatch hgnc.symbol:MIAT semapv:UnspecifiedMatching +OMIM:611082 MIAT skos:exactMatch ncbigene:440823 semapv:UnspecifiedMatching +OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:16354 semapv:UnspecifiedMatching +OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:ADHFE1 semapv:UnspecifiedMatching +OMIM:611083 ADHFE1 skos:exactMatch ncbigene:137872 semapv:UnspecifiedMatching +OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:18521 semapv:UnspecifiedMatching +OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:FOXD4L1 semapv:UnspecifiedMatching +OMIM:611084 FOXD4L1 skos:exactMatch ncbigene:200350 semapv:UnspecifiedMatching +OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:23762 semapv:UnspecifiedMatching +OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:FOXD4L4 semapv:UnspecifiedMatching +OMIM:611085 FOXD4L4 skos:exactMatch ncbigene:349334 semapv:UnspecifiedMatching +OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:18523 semapv:UnspecifiedMatching +OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:FOXD4L3 semapv:UnspecifiedMatching +OMIM:611086 FOXD4L3 skos:exactMatch ncbigene:286380 semapv:UnspecifiedMatching +OMIM:611087 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch MONDO:0012611 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch UMLS:C1824589 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch UMLS:C3809701 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:29937 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:CCDC65 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch ncbigene:85478 semapv:UnspecifiedMatching +OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:26190 semapv:UnspecifiedMatching +OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:MTMR14 semapv:UnspecifiedMatching +OMIM:611089 MTMR14 skos:exactMatch ncbigene:64419 semapv:UnspecifiedMatching +OMIM:611090 intellectual developmental disorder, autosomal recessive 12 skos:exactMatch MONDO:0012612 semapv:UnspecifiedMatching +OMIM:611091 intellectual developmental disorder, autosomal recessive 5 skos:exactMatch MONDO:0012613 semapv:UnspecifiedMatching +OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch MONDO:0012614 semapv:UnspecifiedMatching +OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching +OMIM:611093 intellectual developmental disorder, autosomal recessive 7 skos:exactMatch MONDO:0012615 semapv:UnspecifiedMatching +OMIM:611095 intellectual developmental disorder, autosomal recessive 9 skos:exactMatch MONDO:0012617 semapv:UnspecifiedMatching +OMIM:611096 intellectual developmental disorder, autosomal recessive 10 skos:exactMatch MONDO:0012618 semapv:UnspecifiedMatching +OMIM:611097 intellectual developmental disorder, autosomal recessive 11 skos:exactMatch MONDO:0012619 semapv:UnspecifiedMatching +OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:21923 semapv:UnspecifiedMatching +OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:STEAP4 semapv:UnspecifiedMatching +OMIM:611098 STEAP4 skos:exactMatch ncbigene:79689 semapv:UnspecifiedMatching +OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:30168 semapv:UnspecifiedMatching +OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:PDIA6 semapv:UnspecifiedMatching +OMIM:611099 PDIA6 skos:exactMatch ncbigene:10130 semapv:UnspecifiedMatching +OMIM:611100 prostate cancer, hereditary, 10 skos:exactMatch MONDO:0012620 semapv:UnspecifiedMatching +OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:29105 semapv:UnspecifiedMatching +OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:PLEKHG5 semapv:UnspecifiedMatching +OMIM:611101 PLEKHG5 skos:exactMatch ncbigene:57449 semapv:UnspecifiedMatching +OMIM:611102 deafness-infertility syndrome skos:exactMatch MONDO:0012621 semapv:UnspecifiedMatching +OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:21497 semapv:UnspecifiedMatching +OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:ACAD9 semapv:UnspecifiedMatching +OMIM:611103 ACAD9 skos:exactMatch ncbigene:28976 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch UMLS:C1426031 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch UMLS:C1836336 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:19125 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:FGD4 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch ncbigene:121512 semapv:UnspecifiedMatching +OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation skos:exactMatch MONDO:0012622 semapv:UnspecifiedMatching +OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:21175 semapv:UnspecifiedMatching +OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:ZC3H12D semapv:UnspecifiedMatching +OMIM:611106 ZC3H12D skos:exactMatch ncbigene:340152 semapv:UnspecifiedMatching +OMIM:611107 intellectual developmental disorder, autosomal recessive 4 skos:exactMatch MONDO:0012623 semapv:UnspecifiedMatching +OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:30200 semapv:UnspecifiedMatching +OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:VWC2 semapv:UnspecifiedMatching +OMIM:611108 VWC2 skos:exactMatch ncbigene:375567 semapv:UnspecifiedMatching +OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:16457 semapv:UnspecifiedMatching +OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:MAP3K7CL semapv:UnspecifiedMatching +OMIM:611110 MAP3K7CL skos:exactMatch ncbigene:56911 semapv:UnspecifiedMatching +OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:19201 semapv:UnspecifiedMatching +OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:DPPA5 semapv:UnspecifiedMatching +OMIM:611111 DPPA5 skos:exactMatch ncbigene:340168 semapv:UnspecifiedMatching +OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:30745 semapv:UnspecifiedMatching +OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:DACT3 semapv:UnspecifiedMatching +OMIM:611112 DACT3 skos:exactMatch ncbigene:147906 semapv:UnspecifiedMatching +OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:32553 semapv:UnspecifiedMatching +OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:CEMP1 semapv:UnspecifiedMatching +OMIM:611113 CEMP1 skos:exactMatch ncbigene:752014 semapv:UnspecifiedMatching +OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:31537 semapv:UnspecifiedMatching +OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:MIR150 semapv:UnspecifiedMatching +OMIM:611114 MIR150 skos:exactMatch ncbigene:406942 semapv:UnspecifiedMatching +OMIM:611115 VWCE skos:exactMatch hgnc.symbol:26487 semapv:UnspecifiedMatching +OMIM:611115 VWCE skos:exactMatch hgnc.symbol:VWCE semapv:UnspecifiedMatching +OMIM:611115 VWCE skos:exactMatch ncbigene:220001 semapv:UnspecifiedMatching +OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:31585 semapv:UnspecifiedMatching +OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:MIR208A semapv:UnspecifiedMatching +OMIM:611116 MIR208A skos:exactMatch ncbigene:406990 semapv:UnspecifiedMatching +OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:30178 semapv:UnspecifiedMatching +OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:PPME1 semapv:UnspecifiedMatching +OMIM:611117 PPME1 skos:exactMatch ncbigene:51400 semapv:UnspecifiedMatching +OMIM:611118 NARFL skos:exactMatch hgnc.symbol:14179 semapv:UnspecifiedMatching +OMIM:611118 NARFL skos:exactMatch hgnc.symbol:CIAO3 semapv:UnspecifiedMatching +OMIM:611118 NARFL skos:exactMatch ncbigene:64428 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch UMLS:C1423635 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:15646 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:KLHL7 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch ncbigene:55975 semapv:UnspecifiedMatching +OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:16253 semapv:UnspecifiedMatching +OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:SPTLC3 semapv:UnspecifiedMatching +OMIM:611120 SPTLC3 skos:exactMatch ncbigene:55304 semapv:UnspecifiedMatching +OMIM:611121 CLMN skos:exactMatch hgnc.symbol:19972 semapv:UnspecifiedMatching +OMIM:611121 CLMN skos:exactMatch hgnc.symbol:CLMN semapv:UnspecifiedMatching +OMIM:611121 CLMN skos:exactMatch ncbigene:79789 semapv:UnspecifiedMatching +OMIM:611122 ANKRD28 skos:exactMatch hgnc.symbol:29024 semapv:UnspecifiedMatching +OMIM:611122 ANKRD28 skos:exactMatch hgnc.symbol:ANKRD28 semapv:UnspecifiedMatching +OMIM:611122 ANKRD28 skos:exactMatch ncbigene:23243 semapv:UnspecifiedMatching +OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:19987 semapv:UnspecifiedMatching +OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:EPHA10 semapv:UnspecifiedMatching +OMIM:611123 EPHA10 skos:exactMatch ncbigene:284656 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch UMLS:C1970174 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch UMLS:C4015371 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:28486 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:MFSD8 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch ncbigene:256471 semapv:UnspecifiedMatching +OMIM:611125 DSEL skos:exactMatch hgnc.symbol:18144 semapv:UnspecifiedMatching +OMIM:611125 DSEL skos:exactMatch hgnc.symbol:DSEL semapv:UnspecifiedMatching +OMIM:611125 DSEL skos:exactMatch ncbigene:92126 semapv:UnspecifiedMatching +OMIM:611126 mitochondrial complex 1 deficiency, nuclear iia 20 skos:exactMatch MONDO:0012624 semapv:UnspecifiedMatching +OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:32309 semapv:UnspecifiedMatching +OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:UBL4B semapv:UnspecifiedMatching +OMIM:611127 UBL4B skos:exactMatch ncbigene:164153 semapv:UnspecifiedMatching +OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:19835 semapv:UnspecifiedMatching +OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:MDGA2 semapv:UnspecifiedMatching +OMIM:611128 MDGA2 skos:exactMatch ncbigene:161357 semapv:UnspecifiedMatching +OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:23510 semapv:UnspecifiedMatching +OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:WBP1L semapv:UnspecifiedMatching +OMIM:611129 WBP1L skos:exactMatch ncbigene:54838 semapv:UnspecifiedMatching +OMIM:611130 CHMP7 skos:exactMatch UMLS:C1538462 semapv:UnspecifiedMatching +OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:28439 semapv:UnspecifiedMatching +OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:CHMP7 semapv:UnspecifiedMatching +OMIM:611130 CHMP7 skos:exactMatch ncbigene:91782 semapv:UnspecifiedMatching +OMIM:611131 retinitis pigmentosa 37 skos:exactMatch MONDO:0012625 semapv:UnspecifiedMatching +OMIM:611132 RBKS skos:exactMatch hgnc.symbol:30325 semapv:UnspecifiedMatching +OMIM:611132 RBKS skos:exactMatch hgnc.symbol:RBKS semapv:UnspecifiedMatching +OMIM:611132 RBKS skos:exactMatch ncbigene:64080 semapv:UnspecifiedMatching +OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:10240 semapv:UnspecifiedMatching +OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:SNORD82 semapv:UnspecifiedMatching +OMIM:611133 SNORD82 skos:exactMatch ncbigene:25826 semapv:UnspecifiedMatching +OMIM:611134 meckel syndrome, iia 4 skos:exactMatch MONDO:0012626 semapv:UnspecifiedMatching +OMIM:611135 KLB skos:exactMatch hgnc.symbol:15527 semapv:UnspecifiedMatching +OMIM:611135 KLB skos:exactMatch hgnc.symbol:KLB semapv:UnspecifiedMatching +OMIM:611135 KLB skos:exactMatch ncbigene:152831 semapv:UnspecifiedMatching +OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch MONDO:0012627 semapv:UnspecifiedMatching +OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:31963 semapv:UnspecifiedMatching +OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:PSMB11 semapv:UnspecifiedMatching +OMIM:611137 PSMB11 skos:exactMatch ncbigene:122706 semapv:UnspecifiedMatching +OMIM:611138 STRBP skos:exactMatch hgnc.symbol:16462 semapv:UnspecifiedMatching +OMIM:611138 STRBP skos:exactMatch hgnc.symbol:STRBP semapv:UnspecifiedMatching +OMIM:611138 STRBP skos:exactMatch ncbigene:55342 semapv:UnspecifiedMatching +OMIM:611139 coronary heart disease, susceptibility to, 8 skos:exactMatch MONDO:0012628 semapv:UnspecifiedMatching +OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:29099 semapv:UnspecifiedMatching +OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:TELO2 semapv:UnspecifiedMatching +OMIM:611140 TELO2 skos:exactMatch ncbigene:9894 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch UMLS:C1537693 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:30577 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:MIB2 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch ncbigene:142678 semapv:UnspecifiedMatching +OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:28959 semapv:UnspecifiedMatching +OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:CKAP5 semapv:UnspecifiedMatching +OMIM:611142 CKAP5 skos:exactMatch ncbigene:9793 semapv:UnspecifiedMatching +OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:25829 semapv:UnspecifiedMatching +OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:ABRAXAS1 semapv:UnspecifiedMatching +OMIM:611143 ABRAXAS1 skos:exactMatch ncbigene:84142 semapv:UnspecifiedMatching +OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:28975 semapv:UnspecifiedMatching +OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:ABRAXAS2 semapv:UnspecifiedMatching +OMIM:611144 ABRAXAS2 skos:exactMatch ncbigene:23172 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch UMLS:C1426844 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch UMLS:C4017238 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:20303 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:SLC30A8 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch ncbigene:169026 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch UMLS:C1822757 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:25355 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:SLC30A10 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch ncbigene:55532 semapv:UnspecifiedMatching +OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch MONDO:0012629 semapv:UnspecifiedMatching +OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:19305 semapv:UnspecifiedMatching +OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:SLC30A6 semapv:UnspecifiedMatching +OMIM:611148 SLC30A6 skos:exactMatch ncbigene:55676 semapv:UnspecifiedMatching +OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:19306 semapv:UnspecifiedMatching +OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:SLC30A7 semapv:UnspecifiedMatching +OMIM:611149 SLC30A7 skos:exactMatch ncbigene:148867 semapv:UnspecifiedMatching +OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:10549 semapv:UnspecifiedMatching +OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:ATXN10 semapv:UnspecifiedMatching +OMIM:611150 ATXN10 skos:exactMatch ncbigene:25814 semapv:UnspecifiedMatching +OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:24974 semapv:UnspecifiedMatching +OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:TRMT2A semapv:UnspecifiedMatching +OMIM:611151 TRMT2A skos:exactMatch ncbigene:27037 semapv:UnspecifiedMatching +OMIM:611152 alzheimer disease 13 skos:exactMatch MONDO:0012630 semapv:UnspecifiedMatching +OMIM:611153 XPA skos:exactMatch hgnc.symbol:12814 semapv:UnspecifiedMatching +OMIM:611153 XPA skos:exactMatch hgnc.symbol:XPA semapv:UnspecifiedMatching +OMIM:611153 XPA skos:exactMatch ncbigene:7507 semapv:UnspecifiedMatching +OMIM:611154 alzheimer disease 14 skos:exactMatch MONDO:0012631 semapv:UnspecifiedMatching +OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:23703 semapv:UnspecifiedMatching +OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:ERMP1 semapv:UnspecifiedMatching +OMIM:611156 ERMP1 skos:exactMatch ncbigene:79956 semapv:UnspecifiedMatching +OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:15866 semapv:UnspecifiedMatching +OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:MRGBP semapv:UnspecifiedMatching +OMIM:611157 MRGBP skos:exactMatch ncbigene:55257 semapv:UnspecifiedMatching +OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:20411 semapv:UnspecifiedMatching +OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:KRT77 semapv:UnspecifiedMatching +OMIM:611158 KRT77 skos:exactMatch ncbigene:374454 semapv:UnspecifiedMatching +OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:28926 semapv:UnspecifiedMatching +OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:KRT78 semapv:UnspecifiedMatching +OMIM:611159 KRT78 skos:exactMatch ncbigene:196374 semapv:UnspecifiedMatching +OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:28930 semapv:UnspecifiedMatching +OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:KRT79 semapv:UnspecifiedMatching +OMIM:611160 KRT79 skos:exactMatch ncbigene:338785 semapv:UnspecifiedMatching +OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:27056 semapv:UnspecifiedMatching +OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:KRT80 semapv:UnspecifiedMatching +OMIM:611161 KRT80 skos:exactMatch ncbigene:144501 semapv:UnspecifiedMatching +OMIM:611162 malaria, susceptibility to skos:exactMatch MONDO:0021024 semapv:UnspecifiedMatching +OMIM:611162 malaria, susceptibility to skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching +OMIM:611162 malaria, susceptibility to skos:exactMatch UMLS:C1970028 semapv:UnspecifiedMatching +OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:16095 semapv:UnspecifiedMatching +OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:TOX2 semapv:UnspecifiedMatching +OMIM:611163 TOX2 skos:exactMatch ncbigene:84969 semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch UMLS:C1824195 semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:30146 semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:ARGFX semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch ncbigene:503582 semapv:UnspecifiedMatching +OMIM:611165 DPRX skos:exactMatch UMLS:C1824964 semapv:UnspecifiedMatching +OMIM:611165 DPRX skos:exactMatch hgnc.symbol:32166 semapv:UnspecifiedMatching +OMIM:611165 DPRX skos:exactMatch hgnc.symbol:DPRX semapv:UnspecifiedMatching +OMIM:611165 DPRX skos:exactMatch ncbigene:503834 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch UMLS:C1823470 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:32174 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:TPRX1 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch ncbigene:284355 semapv:UnspecifiedMatching +OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:32178 semapv:UnspecifiedMatching +OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:TPRXL semapv:UnspecifiedMatching +OMIM:611167 TPRXL skos:exactMatch ncbigene:348825 semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch UMLS:C1824994 semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch hgnc.symbol:32179 semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch hgnc.symbol:DUXA semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch ncbigene:503835 semapv:UnspecifiedMatching +OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:20500 semapv:UnspecifiedMatching +OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:CATSPERB semapv:UnspecifiedMatching +OMIM:611169 CATSPERB skos:exactMatch ncbigene:79820 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch UMLS:C1826970 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:1349 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:SAMD9L semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch ncbigene:219285 semapv:UnspecifiedMatching +OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:29319 semapv:UnspecifiedMatching +OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:SHTN1 semapv:UnspecifiedMatching +OMIM:611171 SHTN1 skos:exactMatch ncbigene:57698 semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch UMLS:C1537745 semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:31635 semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:MIR34A semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch ncbigene:407040 semapv:UnspecifiedMatching +OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:31868 semapv:UnspecifiedMatching +OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:MIR375 semapv:UnspecifiedMatching +OMIM:611173 MIR375 skos:exactMatch ncbigene:494324 semapv:UnspecifiedMatching +OMIM:611174 hamamy syndrome skos:exactMatch MONDO:0012634 semapv:UnspecifiedMatching +OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:28833 semapv:UnspecifiedMatching +OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:OLA1 semapv:UnspecifiedMatching +OMIM:611175 OLA1 skos:exactMatch ncbigene:29789 semapv:UnspecifiedMatching +OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:20184 semapv:UnspecifiedMatching +OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:JKAMP semapv:UnspecifiedMatching +OMIM:611176 JKAMP skos:exactMatch ncbigene:51528 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch UMLS:C1825570 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch UMLS:C4017239 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch UMLS:C4017240 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:29262 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:IFT80 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch ncbigene:57560 semapv:UnspecifiedMatching +OMIM:611178 GALP skos:exactMatch hgnc.symbol:24840 semapv:UnspecifiedMatching +OMIM:611178 GALP skos:exactMatch hgnc.symbol:GALP semapv:UnspecifiedMatching +OMIM:611178 GALP skos:exactMatch ncbigene:85569 semapv:UnspecifiedMatching +OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:24084 semapv:UnspecifiedMatching +OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:SHROOM1 semapv:UnspecifiedMatching +OMIM:611179 SHROOM1 skos:exactMatch ncbigene:134549 semapv:UnspecifiedMatching +OMIM:611180 NELFB skos:exactMatch hgnc.symbol:24324 semapv:UnspecifiedMatching +OMIM:611180 NELFB skos:exactMatch hgnc.symbol:NELFB semapv:UnspecifiedMatching +OMIM:611180 NELFB skos:exactMatch ncbigene:25920 semapv:UnspecifiedMatching +OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:21597 semapv:UnspecifiedMatching +OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:ACAD10 semapv:UnspecifiedMatching +OMIM:611181 ACAD10 skos:exactMatch ncbigene:80724 semapv:UnspecifiedMatching +OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch MONDO:0012635 semapv:UnspecifiedMatching +OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch Orphanet:95428 semapv:UnspecifiedMatching +OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching +OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:23057 semapv:UnspecifiedMatching +OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:BRK1 semapv:UnspecifiedMatching +OMIM:611183 BRK1 skos:exactMatch ncbigene:55845 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C0272051 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C1539428 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017241 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017242 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4749121 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:28993 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:PIEZO1 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch ncbigene:9780 semapv:UnspecifiedMatching +OMIM:611185 restless legs syndrome, susceptibility to, 6 skos:exactMatch MONDO:0012636 semapv:UnspecifiedMatching +OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:31641 semapv:UnspecifiedMatching +OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:MIR9-1 semapv:UnspecifiedMatching +OMIM:611186 MIR9-1 skos:exactMatch ncbigene:407046 semapv:UnspecifiedMatching +OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:31642 semapv:UnspecifiedMatching +OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:MIR9-2 semapv:UnspecifiedMatching +OMIM:611187 MIR9-2 skos:exactMatch ncbigene:407047 semapv:UnspecifiedMatching +OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:31646 semapv:UnspecifiedMatching +OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:MIR9-3 semapv:UnspecifiedMatching +OMIM:611188 MIR9-3 skos:exactMatch ncbigene:407051 semapv:UnspecifiedMatching +OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:31569 semapv:UnspecifiedMatching +OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:MIR197 semapv:UnspecifiedMatching +OMIM:611189 MIR197 skos:exactMatch ncbigene:406974 semapv:UnspecifiedMatching +OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:31780 semapv:UnspecifiedMatching +OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:MIR346 semapv:UnspecifiedMatching +OMIM:611190 MIR346 skos:exactMatch ncbigene:442911 semapv:UnspecifiedMatching +OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:31505 semapv:UnspecifiedMatching +OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:MIR125A semapv:UnspecifiedMatching +OMIM:611191 MIR125A skos:exactMatch ncbigene:406910 semapv:UnspecifiedMatching +OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:21316 semapv:UnspecifiedMatching +OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:ANKRD11 semapv:UnspecifiedMatching +OMIM:611192 ANKRD11 skos:exactMatch ncbigene:29123 semapv:UnspecifiedMatching +OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:24255 semapv:UnspecifiedMatching +OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:RRP15 semapv:UnspecifiedMatching +OMIM:611193 RRP15 skos:exactMatch ncbigene:51018 semapv:UnspecifiedMatching +OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:30285 semapv:UnspecifiedMatching +OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:RUFY3 semapv:UnspecifiedMatching +OMIM:611194 RUFY3 skos:exactMatch ncbigene:22902 semapv:UnspecifiedMatching +OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:26460 semapv:UnspecifiedMatching +OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:JAKMIP1 semapv:UnspecifiedMatching +OMIM:611195 JAKMIP1 skos:exactMatch ncbigene:152789 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch UMLS:C1823957 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:22229 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:ZMIZ2 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch ncbigene:83637 semapv:UnspecifiedMatching +OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:29067 semapv:UnspecifiedMatching +OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:JAKMIP2 semapv:UnspecifiedMatching +OMIM:611197 JAKMIP2 skos:exactMatch ncbigene:9832 semapv:UnspecifiedMatching +OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:23523 semapv:UnspecifiedMatching +OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:JAKMIP3 semapv:UnspecifiedMatching +OMIM:611198 JAKMIP3 skos:exactMatch ncbigene:282973 semapv:UnspecifiedMatching +OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:24013 semapv:UnspecifiedMatching +OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:DNTTIP2 semapv:UnspecifiedMatching +OMIM:611199 DNTTIP2 skos:exactMatch ncbigene:30836 semapv:UnspecifiedMatching +OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:21339 semapv:UnspecifiedMatching +OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:TDRD6 semapv:UnspecifiedMatching +OMIM:611200 TDRD6 skos:exactMatch ncbigene:221400 semapv:UnspecifiedMatching +OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:18732 semapv:UnspecifiedMatching +OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:KLHL9 semapv:UnspecifiedMatching +OMIM:611201 KLHL9 skos:exactMatch ncbigene:55958 semapv:UnspecifiedMatching +OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:18860 semapv:UnspecifiedMatching +OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:ASAH2 semapv:UnspecifiedMatching +OMIM:611202 ASAH2 skos:exactMatch ncbigene:56624 semapv:UnspecifiedMatching +OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:16235 semapv:UnspecifiedMatching +OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:DNAJC5 semapv:UnspecifiedMatching +OMIM:611203 DNAJC5 skos:exactMatch ncbigene:80331 semapv:UnspecifiedMatching +OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:19967 semapv:UnspecifiedMatching +OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:CCDC88C semapv:UnspecifiedMatching +OMIM:611204 CCDC88C skos:exactMatch ncbigene:440193 semapv:UnspecifiedMatching +OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:26757 semapv:UnspecifiedMatching +OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:CCDC88B semapv:UnspecifiedMatching +OMIM:611205 CCDC88B skos:exactMatch ncbigene:283234 semapv:UnspecifiedMatching +OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:19123 semapv:UnspecifiedMatching +OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:DNAJC9 semapv:UnspecifiedMatching +OMIM:611206 DNAJC9 skos:exactMatch ncbigene:23234 semapv:UnspecifiedMatching +OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:20090 semapv:UnspecifiedMatching +OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:DNAJC1 semapv:UnspecifiedMatching +OMIM:611207 DNAJC1 skos:exactMatch ncbigene:64215 semapv:UnspecifiedMatching +OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:25127 semapv:UnspecifiedMatching +OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:HNRNPLL semapv:UnspecifiedMatching +OMIM:611208 HNRNPLL skos:exactMatch ncbigene:92906 semapv:UnspecifiedMatching +OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch MONDO:0012637 semapv:UnspecifiedMatching +OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch Orphanet:263508 semapv:UnspecifiedMatching +OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch UMLS:C2931011 semapv:UnspecifiedMatching +OMIM:611210 PBK skos:exactMatch hgnc.symbol:18282 semapv:UnspecifiedMatching +OMIM:611210 PBK skos:exactMatch hgnc.symbol:PBK semapv:UnspecifiedMatching +OMIM:611210 PBK skos:exactMatch ncbigene:55872 semapv:UnspecifiedMatching +OMIM:611211 RELT skos:exactMatch hgnc.symbol:13764 semapv:UnspecifiedMatching +OMIM:611211 RELT skos:exactMatch hgnc.symbol:RELT semapv:UnspecifiedMatching +OMIM:611211 RELT skos:exactMatch ncbigene:84957 semapv:UnspecifiedMatching +OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:27379 semapv:UnspecifiedMatching +OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:RELL1 semapv:UnspecifiedMatching +OMIM:611212 RELL1 skos:exactMatch ncbigene:768211 semapv:UnspecifiedMatching +OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:26902 semapv:UnspecifiedMatching +OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:RELL2 semapv:UnspecifiedMatching +OMIM:611213 RELL2 skos:exactMatch ncbigene:285613 semapv:UnspecifiedMatching +OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:25542 semapv:UnspecifiedMatching +OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:TSR1 semapv:UnspecifiedMatching +OMIM:611214 TSR1 skos:exactMatch ncbigene:55720 semapv:UnspecifiedMatching +OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:33235 semapv:UnspecifiedMatching +OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:PWRN1 semapv:UnspecifiedMatching +OMIM:611215 PWRN1 skos:exactMatch ncbigene:791114 semapv:UnspecifiedMatching +OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:14860 semapv:UnspecifiedMatching +OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:UBXN4 semapv:UnspecifiedMatching +OMIM:611216 UBXN4 skos:exactMatch ncbigene:23190 semapv:UnspecifiedMatching +OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:33236 semapv:UnspecifiedMatching +OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:PWRN2 semapv:UnspecifiedMatching +OMIM:611217 PWRN2 skos:exactMatch ncbigene:791115 semapv:UnspecifiedMatching +OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:13311 semapv:UnspecifiedMatching +OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:GSDMA semapv:UnspecifiedMatching +OMIM:611218 GSDMA skos:exactMatch ncbigene:284110 semapv:UnspecifiedMatching +OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:30594 semapv:UnspecifiedMatching +OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:UNC45A semapv:UnspecifiedMatching +OMIM:611219 UNC45A skos:exactMatch ncbigene:55898 semapv:UnspecifiedMatching +OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:14304 semapv:UnspecifiedMatching +OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:UNC45B semapv:UnspecifiedMatching +OMIM:611220 UNC45B skos:exactMatch ncbigene:146862 semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch UMLS:C1428195 semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:23690 semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:GSDMB semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch ncbigene:55876 semapv:UnspecifiedMatching +OMIM:611222 microphthalmia, syndromic 10 skos:exactMatch MONDO:0012638 semapv:UnspecifiedMatching +OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:393 semapv:UnspecifiedMatching +OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:AKT3 semapv:UnspecifiedMatching +OMIM:611223 AKT3 skos:exactMatch ncbigene:10000 semapv:UnspecifiedMatching +OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:11449 semapv:UnspecifiedMatching +OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:SUCLG1 semapv:UnspecifiedMatching +OMIM:611224 SUCLG1 skos:exactMatch ncbigene:8802 semapv:UnspecifiedMatching +OMIM:611225 spastic paraplegia 18b, autosomal recessive skos:exactMatch MONDO:0012639 semapv:UnspecifiedMatching +OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:30964 semapv:UnspecifiedMatching +OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:ARMC3 semapv:UnspecifiedMatching +OMIM:611226 ARMC3 skos:exactMatch ncbigene:219681 semapv:UnspecifiedMatching +OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:28240 semapv:UnspecifiedMatching +OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:HVCN1 semapv:UnspecifiedMatching +OMIM:611227 HVCN1 skos:exactMatch ncbigene:84329 semapv:UnspecifiedMatching +OMIM:611228 charcot-marie-tooth disease, iia 4j skos:exactMatch MONDO:0012640 semapv:UnspecifiedMatching +OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:25222 semapv:UnspecifiedMatching +OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:ERLEC1 semapv:UnspecifiedMatching +OMIM:611229 ERLEC1 skos:exactMatch ncbigene:27248 semapv:UnspecifiedMatching +OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:25071 semapv:UnspecifiedMatching +OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:NCAPH2 semapv:UnspecifiedMatching +OMIM:611230 NCAPH2 skos:exactMatch ncbigene:29781 semapv:UnspecifiedMatching +OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:2050 semapv:UnspecifiedMatching +OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:CLDN8 semapv:UnspecifiedMatching +OMIM:611231 CLDN8 skos:exactMatch ncbigene:9073 semapv:UnspecifiedMatching +OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:2034 semapv:UnspecifiedMatching +OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:CLDN12 semapv:UnspecifiedMatching +OMIM:611232 CLDN12 skos:exactMatch ncbigene:9069 semapv:UnspecifiedMatching +OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:24913 semapv:UnspecifiedMatching +OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:CDNF semapv:UnspecifiedMatching +OMIM:611233 ARMETL1 skos:exactMatch ncbigene:441549 semapv:UnspecifiedMatching +OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:20743 semapv:UnspecifiedMatching +OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:LRATD1 semapv:UnspecifiedMatching +OMIM:611234 FAM84A skos:exactMatch ncbigene:151354 semapv:UnspecifiedMatching +OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:28462 semapv:UnspecifiedMatching +OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:TMEM38A semapv:UnspecifiedMatching +OMIM:611235 TMEM38A skos:exactMatch ncbigene:79041 semapv:UnspecifiedMatching +OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:25535 semapv:UnspecifiedMatching +OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:TMEM38B semapv:UnspecifiedMatching +OMIM:611236 TMEM38B skos:exactMatch ncbigene:55151 semapv:UnspecifiedMatching +OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:21228 semapv:UnspecifiedMatching +OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:BTBD9 semapv:UnspecifiedMatching +OMIM:611237 BTBD9 skos:exactMatch ncbigene:114781 semapv:UnspecifiedMatching +OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:28314 semapv:UnspecifiedMatching +OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:CHCHD7 semapv:UnspecifiedMatching +OMIM:611238 CHCHD7 skos:exactMatch ncbigene:79145 semapv:UnspecifiedMatching +OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:24835 semapv:UnspecifiedMatching +OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:GPRIN1 semapv:UnspecifiedMatching +OMIM:611239 GPRIN1 skos:exactMatch ncbigene:114787 semapv:UnspecifiedMatching +OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:23730 semapv:UnspecifiedMatching +OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:GPRIN2 semapv:UnspecifiedMatching +OMIM:611240 GPRIN2 skos:exactMatch ncbigene:9721 semapv:UnspecifiedMatching +OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:27733 semapv:UnspecifiedMatching +OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:GPRIN3 semapv:UnspecifiedMatching +OMIM:611241 GPRIN3 skos:exactMatch ncbigene:285513 semapv:UnspecifiedMatching +OMIM:611242 restless legs syndrome, susceptibility to, 5 skos:exactMatch MONDO:0012641 semapv:UnspecifiedMatching +OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:25598 semapv:UnspecifiedMatching +OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:TYW1 semapv:UnspecifiedMatching +OMIM:611243 TYW1 skos:exactMatch ncbigene:55253 semapv:UnspecifiedMatching +OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:26091 semapv:UnspecifiedMatching +OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:TRMT12 semapv:UnspecifiedMatching +OMIM:611244 TRMT12 skos:exactMatch ncbigene:55039 semapv:UnspecifiedMatching +OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:24757 semapv:UnspecifiedMatching +OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:TYW3 semapv:UnspecifiedMatching +OMIM:611245 TYW3 skos:exactMatch ncbigene:127253 semapv:UnspecifiedMatching +OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:17558 semapv:UnspecifiedMatching +OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:LCMT2 semapv:UnspecifiedMatching +OMIM:611246 LCMT2 skos:exactMatch ncbigene:9836 semapv:UnspecifiedMatching +OMIM:611247 major affective disorder 4 skos:exactMatch MONDO:0012642 semapv:UnspecifiedMatching +OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:20704 semapv:UnspecifiedMatching +OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:KLHDC3 semapv:UnspecifiedMatching +OMIM:611248 KLHDC3 skos:exactMatch ncbigene:116138 semapv:UnspecifiedMatching +OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:31479 semapv:UnspecifiedMatching +OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:MIRLET7B semapv:UnspecifiedMatching +OMIM:611249 MIRLET7B skos:exactMatch ncbigene:406884 semapv:UnspecifiedMatching +OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:31482 semapv:UnspecifiedMatching +OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:MIRLET7E semapv:UnspecifiedMatching +OMIM:611250 MIRLET7E skos:exactMatch ncbigene:406887 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch UMLS:C1826733 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:29251 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:DISP3 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch ncbigene:57540 semapv:UnspecifiedMatching +OMIM:611252 spastic paraplegia 32, autosomal recessive skos:exactMatch MONDO:0012643 semapv:UnspecifiedMatching +OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:18632 semapv:UnspecifiedMatching +OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:KIF27 semapv:UnspecifiedMatching +OMIM:611253 KIF27 skos:exactMatch ncbigene:55582 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C1537482 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C3277723 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C3279899 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch UMLS:C3280899 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:30497 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:KIF7 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch ncbigene:374654 semapv:UnspecifiedMatching +OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:10668 semapv:UnspecifiedMatching +OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:NOXA1 semapv:UnspecifiedMatching +OMIM:611255 NOXA1 skos:exactMatch ncbigene:10811 semapv:UnspecifiedMatching +OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:19404 semapv:UnspecifiedMatching +OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:NOXO1 semapv:UnspecifiedMatching +OMIM:611256 NOXO1 skos:exactMatch ncbigene:124056 semapv:UnspecifiedMatching +OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:29411 semapv:UnspecifiedMatching +OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:TMEM132D semapv:UnspecifiedMatching +OMIM:611257 TMEM132D skos:exactMatch ncbigene:121256 semapv:UnspecifiedMatching +OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:30831 semapv:UnspecifiedMatching +OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:TDRD7 semapv:UnspecifiedMatching +OMIM:611258 TDRD7 skos:exactMatch ncbigene:23424 semapv:UnspecifiedMatching +OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:21050 semapv:UnspecifiedMatching +OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:CDKAL1 semapv:UnspecifiedMatching +OMIM:611259 CDKAL1 skos:exactMatch ncbigene:54901 semapv:UnspecifiedMatching +OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:26160 semapv:UnspecifiedMatching +OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:THNSL1 semapv:UnspecifiedMatching +OMIM:611260 THNSL1 skos:exactMatch ncbigene:79896 semapv:UnspecifiedMatching +OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:25602 semapv:UnspecifiedMatching +OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:THNSL2 semapv:UnspecifiedMatching +OMIM:611261 THNSL2 skos:exactMatch ncbigene:55258 semapv:UnspecifiedMatching +OMIM:611262 DOHH skos:exactMatch hgnc.symbol:28662 semapv:UnspecifiedMatching +OMIM:611262 DOHH skos:exactMatch hgnc.symbol:DOHH semapv:UnspecifiedMatching +OMIM:611262 DOHH skos:exactMatch ncbigene:83475 semapv:UnspecifiedMatching +OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch MONDO:0012644 semapv:UnspecifiedMatching +OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch Orphanet:474 semapv:UnspecifiedMatching +OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch UMLS:C1970005 semapv:UnspecifiedMatching +OMIM:611264 CENPW skos:exactMatch hgnc.symbol:21488 semapv:UnspecifiedMatching +OMIM:611264 CENPW skos:exactMatch hgnc.symbol:CENPW semapv:UnspecifiedMatching +OMIM:611264 CENPW skos:exactMatch ncbigene:387103 semapv:UnspecifiedMatching +OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:30021 semapv:UnspecifiedMatching +OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:HELZ2 semapv:UnspecifiedMatching +OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch ncbigene:85441 semapv:UnspecifiedMatching +OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:30182 semapv:UnspecifiedMatching +OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:POTEKP semapv:UnspecifiedMatching +OMIM:611266 POTEKP skos:exactMatch ncbigene:440915 semapv:UnspecifiedMatching +OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:15194 semapv:UnspecifiedMatching +OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:OR51E1 semapv:UnspecifiedMatching +OMIM:611267 OR51E1 skos:exactMatch ncbigene:143503 semapv:UnspecifiedMatching +OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:15195 semapv:UnspecifiedMatching +OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:OR51E2 semapv:UnspecifiedMatching +OMIM:611268 OR51E2 skos:exactMatch ncbigene:81285 semapv:UnspecifiedMatching +OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:13244 semapv:UnspecifiedMatching +OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:NOM1 semapv:UnspecifiedMatching +OMIM:611269 NOM1 skos:exactMatch ncbigene:64434 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch UMLS:C1423703 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch hgnc.symbol:15751 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch hgnc.symbol:NAPB semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch ncbigene:63908 semapv:UnspecifiedMatching +OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:29441 semapv:UnspecifiedMatching +OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:KIF18A semapv:UnspecifiedMatching +OMIM:611271 KIF18A skos:exactMatch ncbigene:81930 semapv:UnspecifiedMatching +OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:12867 semapv:UnspecifiedMatching +OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:ZKSCAN5 semapv:UnspecifiedMatching +OMIM:611272 ZKSCAN5 skos:exactMatch ncbigene:23660 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch UMLS:C1825797 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:21326 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:SKOR1 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch ncbigene:390598 semapv:UnspecifiedMatching +OMIM:611274 glaucoma 1, open angle, n skos:exactMatch MONDO:0012645 semapv:UnspecifiedMatching +OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:16976 semapv:UnspecifiedMatching +OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:BNIPL semapv:UnspecifiedMatching +OMIM:611275 BNIPL skos:exactMatch ncbigene:149428 semapv:UnspecifiedMatching +OMIM:611276 glaucoma 1, open angle, h skos:exactMatch MONDO:0012646 semapv:UnspecifiedMatching +OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:21495 semapv:UnspecifiedMatching +OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:KIF12 semapv:UnspecifiedMatching +OMIM:611278 KIF12 skos:exactMatch ncbigene:113220 semapv:UnspecifiedMatching +OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:19181 semapv:UnspecifiedMatching +OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:KIF14 semapv:UnspecifiedMatching +OMIM:611279 KIF14 skos:exactMatch ncbigene:9928 semapv:UnspecifiedMatching +OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:20231 semapv:UnspecifiedMatching +OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:KLHDC2 semapv:UnspecifiedMatching +OMIM:611280 KLHDC2 skos:exactMatch ncbigene:23588 semapv:UnspecifiedMatching +OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:19836 semapv:UnspecifiedMatching +OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:KLHDC1 semapv:UnspecifiedMatching +OMIM:611281 KLHDC1 skos:exactMatch ncbigene:122773 semapv:UnspecifiedMatching +OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:30373 semapv:UnspecifiedMatching +OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:DNMBP semapv:UnspecifiedMatching +OMIM:611282 DNMBP skos:exactMatch ncbigene:23268 semapv:UnspecifiedMatching +OMIM:611283 isobutyryl-coa dehydrogenase deficiency skos:exactMatch MONDO:0012648 semapv:UnspecifiedMatching +OMIM:611284 dystonia, focal, task-specific skos:exactMatch MONDO:0044871 semapv:UnspecifiedMatching +OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:21423 semapv:UnspecifiedMatching +OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:KCTD5 semapv:UnspecifiedMatching +OMIM:611285 KCTD5 skos:exactMatch ncbigene:54442 semapv:UnspecifiedMatching +OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:17981 semapv:UnspecifiedMatching +OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:RTCA semapv:UnspecifiedMatching +OMIM:611286 RTCD1 skos:exactMatch ncbigene:8634 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch UMLS:C1426240 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:19431 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:CNIH1 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch ncbigene:10175 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch UMLS:C1539112 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:28744 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:CNIH2 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch ncbigene:254263 semapv:UnspecifiedMatching +OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:29480 semapv:UnspecifiedMatching +OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:LRG1 semapv:UnspecifiedMatching +OMIM:611289 LRG1 skos:exactMatch ncbigene:116844 semapv:UnspecifiedMatching +OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:25737 semapv:UnspecifiedMatching +OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:NHEJ1 semapv:UnspecifiedMatching +OMIM:611290 NHEJ1 skos:exactMatch ncbigene:79840 semapv:UnspecifiedMatching +OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation skos:exactMatch MONDO:0012650 semapv:UnspecifiedMatching +OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:23139 semapv:UnspecifiedMatching +OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:CLVS1 semapv:UnspecifiedMatching +OMIM:611292 CLVS1 skos:exactMatch ncbigene:157807 semapv:UnspecifiedMatching +OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:28359 semapv:UnspecifiedMatching +OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:CCDC86 semapv:UnspecifiedMatching +OMIM:611293 CCDC86 skos:exactMatch ncbigene:79080 semapv:UnspecifiedMatching +OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:13399 semapv:UnspecifiedMatching +OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:ONECUT3 semapv:UnspecifiedMatching +OMIM:611294 ONECUT3 skos:exactMatch ncbigene:390874 semapv:UnspecifiedMatching +OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:25947 semapv:UnspecifiedMatching +OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:KLHL24 semapv:UnspecifiedMatching +OMIM:611295 KLHL24 skos:exactMatch ncbigene:54800 semapv:UnspecifiedMatching +OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:33463 semapv:UnspecifiedMatching +OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:ANXA2R semapv:UnspecifiedMatching +OMIM:611296 ANXA2R skos:exactMatch ncbigene:389289 semapv:UnspecifiedMatching +OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:15830 semapv:UnspecifiedMatching +OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:OSR2 semapv:UnspecifiedMatching +OMIM:611297 OSR2 skos:exactMatch ncbigene:116039 semapv:UnspecifiedMatching +OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:29618 semapv:UnspecifiedMatching +OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:ELAPOR1 semapv:UnspecifiedMatching +OMIM:611298 ELAPOR1 skos:exactMatch ncbigene:57535 semapv:UnspecifiedMatching +OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:20338 semapv:UnspecifiedMatching +OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:G2E3 semapv:UnspecifiedMatching +OMIM:611299 G2E3 skos:exactMatch ncbigene:55632 semapv:UnspecifiedMatching +OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:24012 semapv:UnspecifiedMatching +OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:LARP6 semapv:UnspecifiedMatching +OMIM:611300 LARP6 skos:exactMatch ncbigene:55323 semapv:UnspecifiedMatching +OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:26171 semapv:UnspecifiedMatching +OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:FAAP100 semapv:UnspecifiedMatching +OMIM:611301 FAAP100 skos:exactMatch ncbigene:80233 semapv:UnspecifiedMatching +OMIM:611302 spastic ataxia 2, autosomal recessive skos:exactMatch MONDO:0012651 semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch UMLS:C1825657 semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:29013 semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:CLEC16A semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch ncbigene:23274 semapv:UnspecifiedMatching +OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:30136 semapv:UnspecifiedMatching +OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:LDAF1 semapv:UnspecifiedMatching +OMIM:611304 TMEM159 skos:exactMatch ncbigene:57146 semapv:UnspecifiedMatching +OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:29132 semapv:UnspecifiedMatching +OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:ABLIM3 semapv:UnspecifiedMatching +OMIM:611305 ABLIM3 skos:exactMatch ncbigene:22885 semapv:UnspecifiedMatching +OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:28701 semapv:UnspecifiedMatching +OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:SCARA5 semapv:UnspecifiedMatching +OMIM:611306 SCARA5 skos:exactMatch ncbigene:286133 semapv:UnspecifiedMatching +OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch MONDO:0012652 semapv:UnspecifiedMatching +OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch Orphanet:206549 semapv:UnspecifiedMatching +OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch UMLS:C1969785 semapv:UnspecifiedMatching +OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch MONDO:0012653 semapv:UnspecifiedMatching +OMIM:611309 DEPP1 skos:exactMatch UMLS:C1428046 semapv:UnspecifiedMatching +OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:23355 semapv:UnspecifiedMatching +OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:DEPP1 semapv:UnspecifiedMatching +OMIM:611309 DEPP1 skos:exactMatch ncbigene:11067 semapv:UnspecifiedMatching +OMIM:611310 PSTK skos:exactMatch hgnc.symbol:28578 semapv:UnspecifiedMatching +OMIM:611310 PSTK skos:exactMatch hgnc.symbol:PSTK semapv:UnspecifiedMatching +OMIM:611310 PSTK skos:exactMatch ncbigene:118672 semapv:UnspecifiedMatching +OMIM:611312 CRNN skos:exactMatch hgnc.symbol:1230 semapv:UnspecifiedMatching +OMIM:611312 CRNN skos:exactMatch hgnc.symbol:CRNN semapv:UnspecifiedMatching +OMIM:611312 CRNN skos:exactMatch ncbigene:49860 semapv:UnspecifiedMatching +OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:32685 semapv:UnspecifiedMatching +OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:ARMS2 semapv:UnspecifiedMatching +OMIM:611313 ARMS2 skos:exactMatch ncbigene:387715 semapv:UnspecifiedMatching +OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:26817 semapv:UnspecifiedMatching +OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:HMGN2P46 semapv:UnspecifiedMatching +OMIM:611314 HMGN2P46 skos:exactMatch ncbigene:283651 semapv:UnspecifiedMatching +OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:13093 semapv:UnspecifiedMatching +OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:ZSCAN20 semapv:UnspecifiedMatching +OMIM:611315 ZSCAN20 skos:exactMatch ncbigene:7579 semapv:UnspecifiedMatching +OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:15595 semapv:UnspecifiedMatching +OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:SLC12A8 semapv:UnspecifiedMatching +OMIM:611316 SLC12A8 skos:exactMatch ncbigene:84561 semapv:UnspecifiedMatching +OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:30035 semapv:UnspecifiedMatching +OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:PIK3R5 semapv:UnspecifiedMatching +OMIM:611317 PIK3R5 skos:exactMatch ncbigene:23533 semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch UMLS:C1537678 semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch hgnc.symbol:16050 semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch hgnc.symbol:MED12L semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch ncbigene:116931 semapv:UnspecifiedMatching +OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:19753 semapv:UnspecifiedMatching +OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:IFI27L2 semapv:UnspecifiedMatching +OMIM:611319 IFI27L2 skos:exactMatch ncbigene:83982 semapv:UnspecifiedMatching +OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:19754 semapv:UnspecifiedMatching +OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:IFI27L1 semapv:UnspecifiedMatching +OMIM:611320 IFI27L1 skos:exactMatch ncbigene:122509 semapv:UnspecifiedMatching +OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:17447 semapv:UnspecifiedMatching +OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:CLSTN1 semapv:UnspecifiedMatching +OMIM:611321 CLSTN1 skos:exactMatch ncbigene:22883 semapv:UnspecifiedMatching +OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:14884 semapv:UnspecifiedMatching +OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:DNAJA2 semapv:UnspecifiedMatching +OMIM:611322 DNAJA2 skos:exactMatch ncbigene:10294 semapv:UnspecifiedMatching +OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:17448 semapv:UnspecifiedMatching +OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:CLSTN2 semapv:UnspecifiedMatching +OMIM:611323 CLSTN2 skos:exactMatch ncbigene:64084 semapv:UnspecifiedMatching +OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:18371 semapv:UnspecifiedMatching +OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:CLSTN3 semapv:UnspecifiedMatching +OMIM:611324 CLSTN3 skos:exactMatch ncbigene:9746 semapv:UnspecifiedMatching +OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:17443 semapv:UnspecifiedMatching +OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:TBRG4 semapv:UnspecifiedMatching +OMIM:611325 TBRG4 skos:exactMatch ncbigene:9238 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch UMLS:C1539078 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:24227 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:CCPG1 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch ncbigene:9236 semapv:UnspecifiedMatching +OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:14886 semapv:UnspecifiedMatching +OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:DNAJB4 semapv:UnspecifiedMatching +OMIM:611327 DNAJB4 skos:exactMatch ncbigene:11080 semapv:UnspecifiedMatching +OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:14887 semapv:UnspecifiedMatching +OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:DNAJB5 semapv:UnspecifiedMatching +OMIM:611328 DNAJB5 skos:exactMatch ncbigene:25822 semapv:UnspecifiedMatching +OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:32559 semapv:UnspecifiedMatching +OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:SCARNA18 semapv:UnspecifiedMatching +OMIM:611329 SCARNA18 skos:exactMatch ncbigene:677765 semapv:UnspecifiedMatching +OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:32600 semapv:UnspecifiedMatching +OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:SNORA12 semapv:UnspecifiedMatching +OMIM:611330 SNORA12 skos:exactMatch ncbigene:677800 semapv:UnspecifiedMatching +OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:32660 semapv:UnspecifiedMatching +OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:SNORA74B semapv:UnspecifiedMatching +OMIM:611331 SNORA74B skos:exactMatch ncbigene:677841 semapv:UnspecifiedMatching +OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:14888 semapv:UnspecifiedMatching +OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:DNAJB6 semapv:UnspecifiedMatching +OMIM:611332 DNAJB6 skos:exactMatch ncbigene:10049 semapv:UnspecifiedMatching +OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:32638 semapv:UnspecifiedMatching +OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:SNORA3B semapv:UnspecifiedMatching +OMIM:611333 SNORA3B skos:exactMatch ncbigene:677826 semapv:UnspecifiedMatching +OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:32667 semapv:UnspecifiedMatching +OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:SNORA81 semapv:UnspecifiedMatching +OMIM:611334 SNORA81 skos:exactMatch ncbigene:677847 semapv:UnspecifiedMatching +OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:32590 semapv:UnspecifiedMatching +OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:SNORA5C semapv:UnspecifiedMatching +OMIM:611335 SNORA5C skos:exactMatch ncbigene:677796 semapv:UnspecifiedMatching +OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:24986 semapv:UnspecifiedMatching +OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:DNAJB7 semapv:UnspecifiedMatching +OMIM:611336 DNAJB7 skos:exactMatch ncbigene:150353 semapv:UnspecifiedMatching +OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:23699 semapv:UnspecifiedMatching +OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:DNAJB8 semapv:UnspecifiedMatching +OMIM:611337 DNAJB8 skos:exactMatch ncbigene:165721 semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch UMLS:C1427125 semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:20790 semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:ATG4B semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch ncbigene:23192 semapv:UnspecifiedMatching +OMIM:611339 ATG4C skos:exactMatch UMLS:C1825495 semapv:UnspecifiedMatching +OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:16040 semapv:UnspecifiedMatching +OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:ATG4C semapv:UnspecifiedMatching +OMIM:611339 ATG4C skos:exactMatch ncbigene:84938 semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch UMLS:C1825496 semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:20789 semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:ATG4D semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch ncbigene:84971 semapv:UnspecifiedMatching +OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:14889 semapv:UnspecifiedMatching +OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:DNAJB11 semapv:UnspecifiedMatching +OMIM:611341 DNAJB11 skos:exactMatch ncbigene:51726 semapv:UnspecifiedMatching +OMIM:611342 C9ORF64 skos:exactMatch hgnc.symbol:QNG1 semapv:UnspecifiedMatching +OMIM:611342 C9ORF64 skos:exactMatch ncbigene:84267 semapv:UnspecifiedMatching +OMIM:611343 IDNK skos:exactMatch hgnc.symbol:31367 semapv:UnspecifiedMatching +OMIM:611343 IDNK skos:exactMatch hgnc.symbol:IDNK semapv:UnspecifiedMatching +OMIM:611343 IDNK skos:exactMatch ncbigene:414328 semapv:UnspecifiedMatching +OMIM:611344 RASEF skos:exactMatch hgnc.symbol:26464 semapv:UnspecifiedMatching +OMIM:611344 RASEF skos:exactMatch hgnc.symbol:RASEF semapv:UnspecifiedMatching +OMIM:611344 RASEF skos:exactMatch ncbigene:158158 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch UMLS:C1825603 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:24555 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:INTS1 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch ncbigene:26173 semapv:UnspecifiedMatching +OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:29241 semapv:UnspecifiedMatching +OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:INTS2 semapv:UnspecifiedMatching +OMIM:611346 INTS2 skos:exactMatch ncbigene:57508 semapv:UnspecifiedMatching +OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:26153 semapv:UnspecifiedMatching +OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:INTS3 semapv:UnspecifiedMatching +OMIM:611347 INTS3 skos:exactMatch ncbigene:65123 semapv:UnspecifiedMatching +OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:25048 semapv:UnspecifiedMatching +OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:INTS4 semapv:UnspecifiedMatching +OMIM:611348 INTS4 skos:exactMatch ncbigene:92105 semapv:UnspecifiedMatching +OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:29352 semapv:UnspecifiedMatching +OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:INTS5 semapv:UnspecifiedMatching +OMIM:611349 INTS5 skos:exactMatch ncbigene:80789 semapv:UnspecifiedMatching +OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:24484 semapv:UnspecifiedMatching +OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:INTS7 semapv:UnspecifiedMatching +OMIM:611350 INTS7 skos:exactMatch ncbigene:25896 semapv:UnspecifiedMatching +OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:26048 semapv:UnspecifiedMatching +OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:INTS8 semapv:UnspecifiedMatching +OMIM:611351 INTS8 skos:exactMatch ncbigene:55656 semapv:UnspecifiedMatching +OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:25592 semapv:UnspecifiedMatching +OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:INTS9 semapv:UnspecifiedMatching +OMIM:611352 INTS9 skos:exactMatch ncbigene:55756 semapv:UnspecifiedMatching +OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:25548 semapv:UnspecifiedMatching +OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:INTS10 semapv:UnspecifiedMatching +OMIM:611353 INTS10 skos:exactMatch ncbigene:55174 semapv:UnspecifiedMatching +OMIM:611354 INTS11 skos:exactMatch hgnc.symbol:26052 semapv:UnspecifiedMatching +OMIM:611354 INTS11 skos:exactMatch hgnc.symbol:INTS11 semapv:UnspecifiedMatching +OMIM:611354 INTS11 skos:exactMatch ncbigene:54973 semapv:UnspecifiedMatching +OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:25067 semapv:UnspecifiedMatching +OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:INTS12 semapv:UnspecifiedMatching +OMIM:611355 INTS12 skos:exactMatch ncbigene:57117 semapv:UnspecifiedMatching +OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:17496 semapv:UnspecifiedMatching +OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:GKAP1 semapv:UnspecifiedMatching +OMIM:611356 GKAP1 skos:exactMatch ncbigene:80318 semapv:UnspecifiedMatching +OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:18345 semapv:UnspecifiedMatching +OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:TENT5A semapv:UnspecifiedMatching +OMIM:611357 TENT5A skos:exactMatch ncbigene:55603 semapv:UnspecifiedMatching +OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:21158 semapv:UnspecifiedMatching +OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:RNF135 semapv:UnspecifiedMatching +OMIM:611358 RNF135 skos:exactMatch ncbigene:84282 semapv:UnspecifiedMatching +OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:25990 semapv:UnspecifiedMatching +OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:AMBRA1 semapv:UnspecifiedMatching +OMIM:611359 AMBRA1 skos:exactMatch ncbigene:55626 semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch UMLS:C1825278 semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch UMLS:C1836861 semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch hgnc.symbol:25568 semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch hgnc.symbol:FANCI semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch ncbigene:55215 semapv:UnspecifiedMatching +OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:25581 semapv:UnspecifiedMatching +OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:UBA6 semapv:UnspecifiedMatching +OMIM:611361 UBA6 skos:exactMatch ncbigene:55236 semapv:UnspecifiedMatching +OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:25847 semapv:UnspecifiedMatching +OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:UBE2Z semapv:UnspecifiedMatching +OMIM:611362 UBE2Z skos:exactMatch ncbigene:65264 semapv:UnspecifiedMatching +OMIM:611363 atrial septal defect 4 skos:exactMatch MONDO:0012654 semapv:UnspecifiedMatching +OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch MONDO:0012655 semapv:UnspecifiedMatching +OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:33205 semapv:UnspecifiedMatching +OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:TMEM183BP semapv:UnspecifiedMatching +OMIM:611365 TMEM183B skos:exactMatch ncbigene:653659 semapv:UnspecifiedMatching +OMIM:611366 MYG1 skos:exactMatch UMLS:C1425007 semapv:UnspecifiedMatching +OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:17590 semapv:UnspecifiedMatching +OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:MYG1 semapv:UnspecifiedMatching +OMIM:611366 MYG1 skos:exactMatch ncbigene:60314 semapv:UnspecifiedMatching +OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:2981 semapv:UnspecifiedMatching +OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:DNPEP semapv:UnspecifiedMatching +OMIM:611367 DNPEP skos:exactMatch ncbigene:23549 semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch UMLS:C1825933 semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch hgnc.symbol:25929 semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch hgnc.symbol:MAEL semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch ncbigene:84944 semapv:UnspecifiedMatching +OMIM:611369 lethal congenital contracture syndrome 3 skos:exactMatch MONDO:0012656 semapv:UnspecifiedMatching +OMIM:611370 FGGY skos:exactMatch hgnc.symbol:25610 semapv:UnspecifiedMatching +OMIM:611370 FGGY skos:exactMatch hgnc.symbol:FGGY semapv:UnspecifiedMatching +OMIM:611370 FGGY skos:exactMatch ncbigene:55277 semapv:UnspecifiedMatching +OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:25196 semapv:UnspecifiedMatching +OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:ZNF653 semapv:UnspecifiedMatching +OMIM:611371 ZNF653 skos:exactMatch ncbigene:115950 semapv:UnspecifiedMatching +OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:19651 semapv:UnspecifiedMatching +OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:SMAP1 semapv:UnspecifiedMatching +OMIM:611372 SMAP1 skos:exactMatch ncbigene:60682 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch UMLS:C1825807 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:29571 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:LEAP2 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch ncbigene:116842 semapv:UnspecifiedMatching +OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:31636 semapv:UnspecifiedMatching +OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:MIR34B semapv:UnspecifiedMatching +OMIM:611374 MIR34B skos:exactMatch ncbigene:407041 semapv:UnspecifiedMatching +OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:31637 semapv:UnspecifiedMatching +OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:MIR34C semapv:UnspecifiedMatching +OMIM:611375 MIR34C skos:exactMatch ncbigene:407042 semapv:UnspecifiedMatching +OMIM:611376 mungan syndrome skos:exactMatch MONDO:0012657 semapv:UnspecifiedMatching +OMIM:611377 brachydactyly, iia b2 skos:exactMatch MONDO:0012658 semapv:UnspecifiedMatching +OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:140908 semapv:UnspecifiedMatching +OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching +OMIM:611377 brachydactyly, iia b2 skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching +OMIM:611378 macular degeneration, age-related, 9 skos:exactMatch MONDO:0012659 semapv:UnspecifiedMatching +OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:29284 semapv:UnspecifiedMatching +OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:DIP2B semapv:UnspecifiedMatching +OMIM:611379 DIP2B skos:exactMatch ncbigene:57609 semapv:UnspecifiedMatching +OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:29150 semapv:UnspecifiedMatching +OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:DIP2C semapv:UnspecifiedMatching +OMIM:611380 DIP2C skos:exactMatch ncbigene:22982 semapv:UnspecifiedMatching +OMIM:611381 kala-azar, susceptibility to, 2 skos:exactMatch MONDO:0012660 semapv:UnspecifiedMatching +OMIM:611382 kala-azar, susceptibility to, 3 skos:exactMatch MONDO:0012661 semapv:UnspecifiedMatching +OMIM:611383 usher syndrome, iia 2d skos:exactMatch MONDO:0012662 semapv:UnspecifiedMatching +OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch MONDO:0012663 semapv:UnspecifiedMatching +OMIM:611386 ADNP skos:exactMatch hgnc.symbol:15766 semapv:UnspecifiedMatching +OMIM:611386 ADNP skos:exactMatch hgnc.symbol:ADNP semapv:UnspecifiedMatching +OMIM:611386 ADNP skos:exactMatch ncbigene:23394 semapv:UnspecifiedMatching +OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:19232 semapv:UnspecifiedMatching +OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:CXCL17 semapv:UnspecifiedMatching +OMIM:611387 CXCL17 skos:exactMatch ncbigene:284340 semapv:UnspecifiedMatching +OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:16160 semapv:UnspecifiedMatching +OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:DNTTIP1 semapv:UnspecifiedMatching +OMIM:611388 DNTTIP1 skos:exactMatch ncbigene:116092 semapv:UnspecifiedMatching +OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:16805 semapv:UnspecifiedMatching +OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:PRICKLE4 semapv:UnspecifiedMatching +OMIM:611389 PRICKLE4 skos:exactMatch ncbigene:29964 semapv:UnspecifiedMatching +OMIM:611390 spastic ataxia 3, autosomal recessive skos:exactMatch MONDO:0012664 semapv:UnspecifiedMatching +OMIM:611391 cataract 33, multiple types skos:exactMatch MONDO:0012665 semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch UMLS:C1428110 semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch hgnc.symbol:23506 semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch hgnc.symbol:ADO semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch ncbigene:84890 semapv:UnspecifiedMatching +OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:16188 semapv:UnspecifiedMatching +OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:FAM110A semapv:UnspecifiedMatching +OMIM:611393 FAM110A skos:exactMatch ncbigene:83541 semapv:UnspecifiedMatching +OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:28587 semapv:UnspecifiedMatching +OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:FAM110B semapv:UnspecifiedMatching +OMIM:611394 FAM110B skos:exactMatch ncbigene:90362 semapv:UnspecifiedMatching +OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:33340 semapv:UnspecifiedMatching +OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:FAM110C semapv:UnspecifiedMatching +OMIM:611395 FAM110C skos:exactMatch ncbigene:642273 semapv:UnspecifiedMatching +OMIM:611396 ADIG skos:exactMatch hgnc.symbol:28606 semapv:UnspecifiedMatching +OMIM:611396 ADIG skos:exactMatch hgnc.symbol:ADIG semapv:UnspecifiedMatching +OMIM:611396 ADIG skos:exactMatch ncbigene:149685 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch UMLS:C1823226 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:29364 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:TANC1 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch ncbigene:85461 semapv:UnspecifiedMatching +OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:24846 semapv:UnspecifiedMatching +OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:GAS2L2 semapv:UnspecifiedMatching +OMIM:611398 GAS2L2 skos:exactMatch ncbigene:246176 semapv:UnspecifiedMatching +OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:26406 semapv:UnspecifiedMatching +OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:SCLT1 semapv:UnspecifiedMatching +OMIM:611399 SCLT1 skos:exactMatch ncbigene:132320 semapv:UnspecifiedMatching +OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:33510 semapv:UnspecifiedMatching +OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:HOTAIR semapv:UnspecifiedMatching +OMIM:611400 HOTAIR skos:exactMatch ncbigene:100124700 semapv:UnspecifiedMatching +OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:13927 semapv:UnspecifiedMatching +OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:C6orf15 semapv:UnspecifiedMatching +OMIM:611401 C6ORF15 skos:exactMatch ncbigene:29113 semapv:UnspecifiedMatching +OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:28301 semapv:UnspecifiedMatching +OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:DOK6 semapv:UnspecifiedMatching +OMIM:611402 DOK6 skos:exactMatch ncbigene:220164 semapv:UnspecifiedMatching +OMIM:611403 asthma-related traits, susceptibility to, 6 skos:exactMatch MONDO:0012666 semapv:UnspecifiedMatching +OMIM:611404 LY6G6F skos:exactMatch UMLS:C1422281 semapv:UnspecifiedMatching +OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:13933 semapv:UnspecifiedMatching +OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:LY6G6F semapv:UnspecifiedMatching +OMIM:611404 LY6G6F skos:exactMatch ncbigene:259215 semapv:UnspecifiedMatching +OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:17687 semapv:UnspecifiedMatching +OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:RCL1 semapv:UnspecifiedMatching +OMIM:611405 RCL1 skos:exactMatch ncbigene:10171 semapv:UnspecifiedMatching +OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:2966 semapv:UnspecifiedMatching +OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:DYNC1LI2 semapv:UnspecifiedMatching +OMIM:611406 DYNC1LI2 skos:exactMatch ncbigene:1783 semapv:UnspecifiedMatching +OMIM:611407 cardiomyopathy, dilated, 1w skos:exactMatch MONDO:0012667 semapv:UnspecifiedMatching +OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:31923 semapv:UnspecifiedMatching +OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:LCA5 semapv:UnspecifiedMatching +OMIM:611408 LCA5 skos:exactMatch ncbigene:167691 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch UMLS:C0268495 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch UMLS:C0268497 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch UMLS:C1417925 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch UMLS:C1856895 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:8101 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:OCA2 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch ncbigene:4948 semapv:UnspecifiedMatching +OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:13872 semapv:UnspecifiedMatching +OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:RIPOR2 semapv:UnspecifiedMatching +OMIM:611410 RIPOR2 skos:exactMatch ncbigene:9750 semapv:UnspecifiedMatching +OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:1469 semapv:UnspecifiedMatching +OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:CAMKK1 semapv:UnspecifiedMatching +OMIM:611411 CAMKK1 skos:exactMatch ncbigene:84254 semapv:UnspecifiedMatching +OMIM:611412 NPL skos:exactMatch hgnc.symbol:16781 semapv:UnspecifiedMatching +OMIM:611412 NPL skos:exactMatch hgnc.symbol:NPL semapv:UnspecifiedMatching +OMIM:611412 NPL skos:exactMatch ncbigene:80896 semapv:UnspecifiedMatching +OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:30368 semapv:UnspecifiedMatching +OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:DLGAP3 semapv:UnspecifiedMatching +OMIM:611413 DLGAP3 skos:exactMatch ncbigene:58512 semapv:UnspecifiedMatching +OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:20407 semapv:UnspecifiedMatching +OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:CALR3 semapv:UnspecifiedMatching +OMIM:611414 CALR3 skos:exactMatch ncbigene:125972 semapv:UnspecifiedMatching +OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:20932 semapv:UnspecifiedMatching +OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:POLD3 semapv:UnspecifiedMatching +OMIM:611415 POLD3 skos:exactMatch ncbigene:10714 semapv:UnspecifiedMatching +OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:11972 semapv:UnspecifiedMatching +OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:TOX3 semapv:UnspecifiedMatching +OMIM:611416 TOX3 skos:exactMatch ncbigene:27324 semapv:UnspecifiedMatching +OMIM:611417 SGSM1 skos:exactMatch hgnc.symbol:29410 semapv:UnspecifiedMatching +OMIM:611417 SGSM1 skos:exactMatch hgnc.symbol:SGSM1 semapv:UnspecifiedMatching +OMIM:611417 SGSM1 skos:exactMatch ncbigene:129049 semapv:UnspecifiedMatching +OMIM:611418 SGSM2 skos:exactMatch hgnc.symbol:29026 semapv:UnspecifiedMatching +OMIM:611418 SGSM2 skos:exactMatch hgnc.symbol:SGSM2 semapv:UnspecifiedMatching +OMIM:611418 SGSM2 skos:exactMatch ncbigene:9905 semapv:UnspecifiedMatching +OMIM:611419 SMIM29 skos:exactMatch hgnc.symbol:1340 semapv:UnspecifiedMatching +OMIM:611419 SMIM29 skos:exactMatch hgnc.symbol:SMIM29 semapv:UnspecifiedMatching +OMIM:611419 SMIM29 skos:exactMatch ncbigene:221491 semapv:UnspecifiedMatching +OMIM:611420 CIZ1 skos:exactMatch hgnc.symbol:16744 semapv:UnspecifiedMatching +OMIM:611420 CIZ1 skos:exactMatch hgnc.symbol:CIZ1 semapv:UnspecifiedMatching +OMIM:611420 CIZ1 skos:exactMatch ncbigene:25792 semapv:UnspecifiedMatching +OMIM:611421 SRCAP skos:exactMatch hgnc.symbol:16974 semapv:UnspecifiedMatching +OMIM:611421 SRCAP skos:exactMatch hgnc.symbol:SRCAP semapv:UnspecifiedMatching +OMIM:611421 SRCAP skos:exactMatch ncbigene:10847 semapv:UnspecifiedMatching +OMIM:611422 MND1 skos:exactMatch hgnc.symbol:24839 semapv:UnspecifiedMatching +OMIM:611422 MND1 skos:exactMatch hgnc.symbol:MND1 semapv:UnspecifiedMatching +OMIM:611422 MND1 skos:exactMatch ncbigene:84057 semapv:UnspecifiedMatching +OMIM:611423 CEP135 skos:exactMatch hgnc.symbol:29086 semapv:UnspecifiedMatching +OMIM:611423 CEP135 skos:exactMatch hgnc.symbol:CEP135 semapv:UnspecifiedMatching +OMIM:611423 CEP135 skos:exactMatch ncbigene:9662 semapv:UnspecifiedMatching +OMIM:611424 ZMYND19 skos:exactMatch hgnc.symbol:21146 semapv:UnspecifiedMatching +OMIM:611424 ZMYND19 skos:exactMatch hgnc.symbol:ZMYND19 semapv:UnspecifiedMatching +OMIM:611424 ZMYND19 skos:exactMatch ncbigene:116225 semapv:UnspecifiedMatching +OMIM:611425 CNTROB skos:exactMatch hgnc.symbol:29616 semapv:UnspecifiedMatching +OMIM:611425 CNTROB skos:exactMatch hgnc.symbol:CNTROB semapv:UnspecifiedMatching +OMIM:611425 CNTROB skos:exactMatch ncbigene:116840 semapv:UnspecifiedMatching +OMIM:611426 tented eyebrows skos:exactMatch MONDO:0012668 semapv:UnspecifiedMatching +OMIM:611427 MTHFD1L skos:exactMatch hgnc.symbol:21055 semapv:UnspecifiedMatching +OMIM:611427 MTHFD1L skos:exactMatch hgnc.symbol:MTHFD1L semapv:UnspecifiedMatching +OMIM:611427 MTHFD1L skos:exactMatch ncbigene:25902 semapv:UnspecifiedMatching +OMIM:611428 DONSON skos:exactMatch hgnc.symbol:2993 semapv:UnspecifiedMatching +OMIM:611428 DONSON skos:exactMatch hgnc.symbol:DONSON semapv:UnspecifiedMatching +OMIM:611428 DONSON skos:exactMatch ncbigene:29980 semapv:UnspecifiedMatching +OMIM:611429 APRG1 skos:exactMatch hgnc.symbol:24082 semapv:UnspecifiedMatching +OMIM:611429 APRG1 skos:exactMatch hgnc.symbol:APRG1 semapv:UnspecifiedMatching +OMIM:611429 APRG1 skos:exactMatch ncbigene:339883 semapv:UnspecifiedMatching +OMIM:611430 TTC21A skos:exactMatch hgnc.symbol:30761 semapv:UnspecifiedMatching +OMIM:611430 TTC21A skos:exactMatch hgnc.symbol:TTC21A semapv:UnspecifiedMatching +OMIM:611430 TTC21A skos:exactMatch ncbigene:199223 semapv:UnspecifiedMatching +OMIM:611431 legius syndrome skos:exactMatch MONDO:0012669 semapv:UnspecifiedMatching +OMIM:611432 DOCK8 skos:exactMatch hgnc.symbol:19191 semapv:UnspecifiedMatching +OMIM:611432 DOCK8 skos:exactMatch hgnc.symbol:DOCK8 semapv:UnspecifiedMatching +OMIM:611432 DOCK8 skos:exactMatch ncbigene:81704 semapv:UnspecifiedMatching +OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:18889 semapv:UnspecifiedMatching +OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:STYK1 semapv:UnspecifiedMatching +OMIM:611433 STYK1 skos:exactMatch ncbigene:55359 semapv:UnspecifiedMatching +OMIM:611434 CLNK skos:exactMatch hgnc.symbol:17438 semapv:UnspecifiedMatching +OMIM:611434 CLNK skos:exactMatch hgnc.symbol:CLNK semapv:UnspecifiedMatching +OMIM:611434 CLNK skos:exactMatch ncbigene:116449 semapv:UnspecifiedMatching +OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:24583 semapv:UnspecifiedMatching +OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:DOK3 semapv:UnspecifiedMatching +OMIM:611435 DOK3 skos:exactMatch ncbigene:79930 semapv:UnspecifiedMatching +OMIM:611436 CA13 skos:exactMatch hgnc.symbol:14914 semapv:UnspecifiedMatching +OMIM:611436 CA13 skos:exactMatch hgnc.symbol:CA13 semapv:UnspecifiedMatching +OMIM:611436 CA13 skos:exactMatch ncbigene:377677 semapv:UnspecifiedMatching +OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:18894 semapv:UnspecifiedMatching +OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:DUSP19 semapv:UnspecifiedMatching +OMIM:611437 DUSP19 skos:exactMatch ncbigene:142679 semapv:UnspecifiedMatching +OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:21617 semapv:UnspecifiedMatching +OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:TXLNB semapv:UnspecifiedMatching +OMIM:611438 TXLNB skos:exactMatch ncbigene:167838 semapv:UnspecifiedMatching +OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:13085 semapv:UnspecifiedMatching +OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:ZBTB22 semapv:UnspecifiedMatching +OMIM:611439 ZBTB22 skos:exactMatch ncbigene:9278 semapv:UnspecifiedMatching +OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:13923 semapv:UnspecifiedMatching +OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:WDR46 semapv:UnspecifiedMatching +OMIM:611440 WDR46 skos:exactMatch ncbigene:9277 semapv:UnspecifiedMatching +OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:3079 semapv:UnspecifiedMatching +OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:DUX1 semapv:UnspecifiedMatching +OMIM:611441 DUX1 skos:exactMatch ncbigene:26584 semapv:UnspecifiedMatching +OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:38670 semapv:UnspecifiedMatching +OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:DUX4L8 semapv:UnspecifiedMatching +OMIM:611442 DUX2 skos:exactMatch ncbigene:26583 semapv:UnspecifiedMatching +OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:3081 semapv:UnspecifiedMatching +OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:DUX3 semapv:UnspecifiedMatching +OMIM:611443 DUX3 skos:exactMatch ncbigene:26582 semapv:UnspecifiedMatching +OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:3083 semapv:UnspecifiedMatching +OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:DUX5 semapv:UnspecifiedMatching +OMIM:611444 DUX5 skos:exactMatch ncbigene:26581 semapv:UnspecifiedMatching +OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:29125 semapv:UnspecifiedMatching +OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:DNM3 semapv:UnspecifiedMatching +OMIM:611445 DNM3 skos:exactMatch ncbigene:26052 semapv:UnspecifiedMatching +OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:18484 semapv:UnspecifiedMatching +OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:DUSP18 semapv:UnspecifiedMatching +OMIM:611446 DUSP18 skos:exactMatch ncbigene:150290 semapv:UnspecifiedMatching +OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:17948 semapv:UnspecifiedMatching +OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:YBX2 semapv:UnspecifiedMatching +OMIM:611447 YBX2 skos:exactMatch ncbigene:51087 semapv:UnspecifiedMatching +OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:23505 semapv:UnspecifiedMatching +OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:BMS1 semapv:UnspecifiedMatching +OMIM:611448 BMS1 skos:exactMatch ncbigene:9790 semapv:UnspecifiedMatching +OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:17796 semapv:UnspecifiedMatching +OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:XPO4 semapv:UnspecifiedMatching +OMIM:611449 XPO4 skos:exactMatch ncbigene:64328 semapv:UnspecifiedMatching +OMIM:611450 PXK skos:exactMatch hgnc.symbol:23326 semapv:UnspecifiedMatching +OMIM:611450 PXK skos:exactMatch hgnc.symbol:PXK semapv:UnspecifiedMatching +OMIM:611450 PXK skos:exactMatch ncbigene:54899 semapv:UnspecifiedMatching +OMIM:611451 deafness, autosomal recessive 63 skos:exactMatch MONDO:0012670 semapv:UnspecifiedMatching +OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:15881 semapv:UnspecifiedMatching +OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:DBNDD2 semapv:UnspecifiedMatching +OMIM:611453 DBNDD2 skos:exactMatch ncbigene:55861 semapv:UnspecifiedMatching +OMIM:611455 KNCN skos:exactMatch hgnc.symbol:26488 semapv:UnspecifiedMatching +OMIM:611455 KNCN skos:exactMatch hgnc.symbol:KNCN semapv:UnspecifiedMatching +OMIM:611455 KNCN skos:exactMatch ncbigene:148930 semapv:UnspecifiedMatching +OMIM:611456 tremor, hereditary essential, 3 skos:exactMatch MONDO:0012671 semapv:UnspecifiedMatching +OMIM:611457 FOXO6 skos:exactMatch UMLS:C1969616 semapv:UnspecifiedMatching +OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:24814 semapv:UnspecifiedMatching +OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:FOXO6 semapv:UnspecifiedMatching +OMIM:611457 FOXO6 skos:exactMatch ncbigene:100132074 semapv:UnspecifiedMatching +OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:4298 semapv:UnspecifiedMatching +OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:GLB1 semapv:UnspecifiedMatching +OMIM:611458 GLB1 skos:exactMatch ncbigene:2720 semapv:UnspecifiedMatching +OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:23088 semapv:UnspecifiedMatching +OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:SLC10A7 semapv:UnspecifiedMatching +OMIM:611459 SLC10A7 skos:exactMatch ncbigene:84068 semapv:UnspecifiedMatching +OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:27007 semapv:UnspecifiedMatching +OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:TPRG1L semapv:UnspecifiedMatching +OMIM:611460 TPRG1L skos:exactMatch ncbigene:127262 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch UMLS:C1427912 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:23095 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:SLC22A17 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch ncbigene:51310 semapv:UnspecifiedMatching +OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:27101 semapv:UnspecifiedMatching +OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:PIK3R6 semapv:UnspecifiedMatching +OMIM:611462 PIK3R6 skos:exactMatch ncbigene:146850 semapv:UnspecifiedMatching +OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:23160 semapv:UnspecifiedMatching +OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:SAT2 semapv:UnspecifiedMatching +OMIM:611463 SAT2 skos:exactMatch ncbigene:112483 semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch UMLS:C1537933 semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch hgnc.symbol:28207 semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch hgnc.symbol:MON1A semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch ncbigene:84315 semapv:UnspecifiedMatching +OMIM:611465 gallbladder disease 4 skos:exactMatch MONDO:0012672 semapv:UnspecifiedMatching +OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:29017 semapv:UnspecifiedMatching +OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:PLEKHM1 semapv:UnspecifiedMatching +OMIM:611466 PLEKHM1 skos:exactMatch ncbigene:9842 semapv:UnspecifiedMatching +OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:19895 semapv:UnspecifiedMatching +OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:GBP5 semapv:UnspecifiedMatching +OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch ncbigene:115362 semapv:UnspecifiedMatching +OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:20608 semapv:UnspecifiedMatching +OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:BDNF-AS semapv:UnspecifiedMatching +OMIM:611468 BDNFAS skos:exactMatch ncbigene:497258 semapv:UnspecifiedMatching +OMIM:611469 colorectal cancer, susceptibility to, 2 skos:exactMatch MONDO:0012673 semapv:UnspecifiedMatching +OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:21016 semapv:UnspecifiedMatching +OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:LGSN semapv:UnspecifiedMatching +OMIM:611470 GLULD1 skos:exactMatch ncbigene:51557 semapv:UnspecifiedMatching +OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:29609 semapv:UnspecifiedMatching +OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:ACP6 semapv:UnspecifiedMatching +OMIM:611471 ACP6 skos:exactMatch ncbigene:51205 semapv:UnspecifiedMatching +OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:20444 semapv:UnspecifiedMatching +OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:MBD5 semapv:UnspecifiedMatching +OMIM:611472 MBD5 skos:exactMatch ncbigene:55777 semapv:UnspecifiedMatching +OMIM:611473 ESRG skos:exactMatch hgnc.symbol:39079 semapv:UnspecifiedMatching +OMIM:611473 ESRG skos:exactMatch hgnc.symbol:ESRG semapv:UnspecifiedMatching +OMIM:611473 ESRG skos:exactMatch ncbigene:790952 semapv:UnspecifiedMatching +OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:24978 semapv:UnspecifiedMatching +OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:PLAAT5 semapv:UnspecifiedMatching +OMIM:611474 PLAAT5 skos:exactMatch ncbigene:117245 semapv:UnspecifiedMatching +OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:24567 semapv:UnspecifiedMatching +OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:RPAP1 semapv:UnspecifiedMatching +OMIM:611475 RPAP1 skos:exactMatch ncbigene:26015 semapv:UnspecifiedMatching +OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:25791 semapv:UnspecifiedMatching +OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:RPAP2 semapv:UnspecifiedMatching +OMIM:611476 RPAP2 skos:exactMatch ncbigene:79871 semapv:UnspecifiedMatching +OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:26151 semapv:UnspecifiedMatching +OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:RPAP3 semapv:UnspecifiedMatching +OMIM:611477 RPAP3 skos:exactMatch ncbigene:79657 semapv:UnspecifiedMatching +OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:20247 semapv:UnspecifiedMatching +OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:MEPCE semapv:UnspecifiedMatching +OMIM:611478 MEPCE skos:exactMatch ncbigene:56257 semapv:UnspecifiedMatching +OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:17030 semapv:UnspecifiedMatching +OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:GPN1 semapv:UnspecifiedMatching +OMIM:611479 XAB1 skos:exactMatch ncbigene:11321 semapv:UnspecifiedMatching +OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:26075 semapv:UnspecifiedMatching +OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:PIH1D1 semapv:UnspecifiedMatching +OMIM:611480 PIH1D1 skos:exactMatch ncbigene:55011 semapv:UnspecifiedMatching +OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:33821 semapv:UnspecifiedMatching +OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:UFSP1 semapv:UnspecifiedMatching +OMIM:611481 UFSP1 skos:exactMatch ncbigene:402682 semapv:UnspecifiedMatching +OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:25640 semapv:UnspecifiedMatching +OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:UFSP2 semapv:UnspecifiedMatching +OMIM:611482 UFSP2 skos:exactMatch ncbigene:55325 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch UMLS:C1823890 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:24877 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:YIPF5 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch ncbigene:81555 semapv:UnspecifiedMatching +OMIM:611484 YIF1A skos:exactMatch UMLS:C1823885 semapv:UnspecifiedMatching +OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:16688 semapv:UnspecifiedMatching +OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:YIF1A semapv:UnspecifiedMatching +OMIM:611484 YIF1A skos:exactMatch ncbigene:10897 semapv:UnspecifiedMatching +OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:18857 semapv:UnspecifiedMatching +OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:CYP4F12 semapv:UnspecifiedMatching +OMIM:611485 CYP4F12 skos:exactMatch ncbigene:66002 semapv:UnspecifiedMatching +OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:28852 semapv:UnspecifiedMatching +OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:SYCE1 semapv:UnspecifiedMatching +OMIM:611486 SYCE1 skos:exactMatch ncbigene:93426 semapv:UnspecifiedMatching +OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:27411 semapv:UnspecifiedMatching +OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:SYCE2 semapv:UnspecifiedMatching +OMIM:611487 SYCE2 skos:exactMatch ncbigene:256126 semapv:UnspecifiedMatching +OMIM:611488 macular degeneration, age-related, 10 skos:exactMatch MONDO:0012674 semapv:UnspecifiedMatching +OMIM:611489 corticosteroid-binding globulin deficiency skos:exactMatch MONDO:0012675 semapv:UnspecifiedMatching +OMIM:611490 osteopetrosis, autosomal recessive 4 skos:exactMatch MONDO:0012676 semapv:UnspecifiedMatching +OMIM:611491 RADIL skos:exactMatch hgnc.symbol:22226 semapv:UnspecifiedMatching +OMIM:611491 RADIL skos:exactMatch hgnc.symbol:RADIL semapv:UnspecifiedMatching +OMIM:611491 RADIL skos:exactMatch ncbigene:55698 semapv:UnspecifiedMatching +OMIM:611492 CA2 skos:exactMatch hgnc.symbol:1373 semapv:UnspecifiedMatching +OMIM:611492 CA2 skos:exactMatch hgnc.symbol:CA2 semapv:UnspecifiedMatching +OMIM:611492 CA2 skos:exactMatch ncbigene:760 semapv:UnspecifiedMatching +OMIM:611493 atrial fibrillation, familial, 4 skos:exactMatch MONDO:0012677 semapv:UnspecifiedMatching +OMIM:611494 atrial fibrillation, familial, 5 skos:exactMatch MONDO:0012678 semapv:UnspecifiedMatching +OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:26820 semapv:UnspecifiedMatching +OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:CYP4F22 semapv:UnspecifiedMatching +OMIM:611495 CYP4F22 skos:exactMatch ncbigene:126410 semapv:UnspecifiedMatching +OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:15802 semapv:UnspecifiedMatching +OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:GATA5 semapv:UnspecifiedMatching +OMIM:611496 GATA5 skos:exactMatch ncbigene:140628 semapv:UnspecifiedMatching +OMIM:611497 osteopetrosis, autosomal recessive 6 skos:exactMatch MONDO:0012679 semapv:UnspecifiedMatching +OMIM:611498 nephronophthisis 7 skos:exactMatch MONDO:0012680 semapv:UnspecifiedMatching +OMIM:611499 GUSB skos:exactMatch hgnc.symbol:4696 semapv:UnspecifiedMatching +OMIM:611499 GUSB skos:exactMatch hgnc.symbol:GUSB semapv:UnspecifiedMatching +OMIM:611499 GUSB skos:exactMatch ncbigene:2990 semapv:UnspecifiedMatching +OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:31597 semapv:UnspecifiedMatching +OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:MIR219A1 semapv:UnspecifiedMatching +OMIM:611500 MIR219-1 skos:exactMatch ncbigene:407002 semapv:UnspecifiedMatching +OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:18806 semapv:UnspecifiedMatching +OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:CAMTA1 semapv:UnspecifiedMatching +OMIM:611501 CAMTA1 skos:exactMatch ncbigene:23261 semapv:UnspecifiedMatching +OMIM:611502 CENPK skos:exactMatch hgnc.symbol:29479 semapv:UnspecifiedMatching +OMIM:611502 CENPK skos:exactMatch hgnc.symbol:CENPK semapv:UnspecifiedMatching +OMIM:611502 CENPK skos:exactMatch ncbigene:64105 semapv:UnspecifiedMatching +OMIM:611503 CENPL skos:exactMatch hgnc.symbol:17879 semapv:UnspecifiedMatching +OMIM:611503 CENPL skos:exactMatch hgnc.symbol:CENPL semapv:UnspecifiedMatching +OMIM:611503 CENPL skos:exactMatch ncbigene:91687 semapv:UnspecifiedMatching +OMIM:611504 CENPO skos:exactMatch hgnc.symbol:28152 semapv:UnspecifiedMatching +OMIM:611504 CENPO skos:exactMatch hgnc.symbol:CENPO semapv:UnspecifiedMatching +OMIM:611504 CENPO skos:exactMatch ncbigene:79172 semapv:UnspecifiedMatching +OMIM:611505 CENPP skos:exactMatch hgnc.symbol:32933 semapv:UnspecifiedMatching +OMIM:611505 CENPP skos:exactMatch hgnc.symbol:CENPP semapv:UnspecifiedMatching +OMIM:611505 CENPP skos:exactMatch ncbigene:401541 semapv:UnspecifiedMatching +OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:21347 semapv:UnspecifiedMatching +OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:CENPQ semapv:UnspecifiedMatching +OMIM:611506 CENPQ skos:exactMatch ncbigene:55166 semapv:UnspecifiedMatching +OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:24212 semapv:UnspecifiedMatching +OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:CISD2 semapv:UnspecifiedMatching +OMIM:611507 CISD2 skos:exactMatch ncbigene:493856 semapv:UnspecifiedMatching +OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:18807 semapv:UnspecifiedMatching +OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:CAMTA2 semapv:UnspecifiedMatching +OMIM:611508 CAMTA2 skos:exactMatch ncbigene:23125 semapv:UnspecifiedMatching +OMIM:611509 CENPN skos:exactMatch hgnc.symbol:30873 semapv:UnspecifiedMatching +OMIM:611509 CENPN skos:exactMatch hgnc.symbol:CENPN semapv:UnspecifiedMatching +OMIM:611509 CENPN skos:exactMatch ncbigene:55839 semapv:UnspecifiedMatching +OMIM:611510 CENPT skos:exactMatch hgnc.symbol:25787 semapv:UnspecifiedMatching +OMIM:611510 CENPT skos:exactMatch hgnc.symbol:CENPT semapv:UnspecifiedMatching +OMIM:611510 CENPT skos:exactMatch ncbigene:80152 semapv:UnspecifiedMatching +OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:21348 semapv:UnspecifiedMatching +OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:CENPU semapv:UnspecifiedMatching +OMIM:611511 MLF1IP skos:exactMatch ncbigene:79682 semapv:UnspecifiedMatching +OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:20815 semapv:UnspecifiedMatching +OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:KDM3A semapv:UnspecifiedMatching +OMIM:611512 KDM3A skos:exactMatch ncbigene:55818 semapv:UnspecifiedMatching +OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:13804 semapv:UnspecifiedMatching +OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:NEUROD6 semapv:UnspecifiedMatching +OMIM:611513 NEUROD6 skos:exactMatch ncbigene:63974 semapv:UnspecifiedMatching +OMIM:611514 WLS skos:exactMatch UMLS:C1825410 semapv:UnspecifiedMatching +OMIM:611514 WLS skos:exactMatch hgnc.symbol:30238 semapv:UnspecifiedMatching +OMIM:611514 WLS skos:exactMatch hgnc.symbol:WLS semapv:UnspecifiedMatching +OMIM:611514 WLS skos:exactMatch ncbigene:79971 semapv:UnspecifiedMatching +OMIM:611515 febrile seizures, familial, 7 skos:exactMatch MONDO:0012681 semapv:UnspecifiedMatching +OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:18317 semapv:UnspecifiedMatching +OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:NICN1 semapv:UnspecifiedMatching +OMIM:611516 NICN1 skos:exactMatch ncbigene:84276 semapv:UnspecifiedMatching +OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:13265 semapv:UnspecifiedMatching +OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:CYP4F11 semapv:UnspecifiedMatching +OMIM:611517 CYP4F11 skos:exactMatch ncbigene:57834 semapv:UnspecifiedMatching +OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:23479 semapv:UnspecifiedMatching +OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:DOCK10 semapv:UnspecifiedMatching +OMIM:611518 DOCK10 skos:exactMatch ncbigene:55619 semapv:UnspecifiedMatching +OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:23781 semapv:UnspecifiedMatching +OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:POLDIP2 semapv:UnspecifiedMatching +OMIM:611519 POLDIP2 skos:exactMatch ncbigene:26073 semapv:UnspecifiedMatching +OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:23782 semapv:UnspecifiedMatching +OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:POLDIP3 semapv:UnspecifiedMatching +OMIM:611520 POLDIP3 skos:exactMatch ncbigene:84271 semapv:UnspecifiedMatching +OMIM:611521 immunodeficiency 35 skos:exactMatch MONDO:0012682 semapv:UnspecifiedMatching +OMIM:611523 pontocerebellar hypoplasia, iia 6 skos:exactMatch MONDO:0012683 semapv:UnspecifiedMatching +OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:21406 semapv:UnspecifiedMatching +OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:RARS2 semapv:UnspecifiedMatching +OMIM:611524 RARS2 skos:exactMatch ncbigene:57038 semapv:UnspecifiedMatching +OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:14106 semapv:UnspecifiedMatching +OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:POLD4 semapv:UnspecifiedMatching +OMIM:611525 POLD4 skos:exactMatch ncbigene:57804 semapv:UnspecifiedMatching +OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:16821 semapv:UnspecifiedMatching +OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:NOP14 semapv:UnspecifiedMatching +OMIM:611526 NOP14 skos:exactMatch ncbigene:8602 semapv:UnspecifiedMatching +OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:24244 semapv:UnspecifiedMatching +OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:SLC9B1 semapv:UnspecifiedMatching +OMIM:611527 NHEDC1 skos:exactMatch ncbigene:150159 semapv:UnspecifiedMatching +OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 skos:exactMatch MONDO:0012684 semapv:UnspecifiedMatching +OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:15654 semapv:UnspecifiedMatching +OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:CYP2S1 semapv:UnspecifiedMatching +OMIM:611529 CYP2S1 skos:exactMatch ncbigene:29785 semapv:UnspecifiedMatching +OMIM:611530 NLN skos:exactMatch hgnc.symbol:16058 semapv:UnspecifiedMatching +OMIM:611530 NLN skos:exactMatch hgnc.symbol:NLN semapv:UnspecifiedMatching +OMIM:611530 NLN skos:exactMatch ncbigene:57486 semapv:UnspecifiedMatching +OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:16912 semapv:UnspecifiedMatching +OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:EMG1 semapv:UnspecifiedMatching +OMIM:611531 EMG1 skos:exactMatch ncbigene:10436 semapv:UnspecifiedMatching +OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:19910 semapv:UnspecifiedMatching +OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:NOL6 semapv:UnspecifiedMatching +OMIM:611532 NOL6 skos:exactMatch ncbigene:65083 semapv:UnspecifiedMatching +OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:21040 semapv:UnspecifiedMatching +OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:NOL7 semapv:UnspecifiedMatching +OMIM:611533 NOL7 skos:exactMatch ncbigene:51406 semapv:UnspecifiedMatching +OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:23387 semapv:UnspecifiedMatching +OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:NOL8 semapv:UnspecifiedMatching +OMIM:611534 NOL8 skos:exactMatch ncbigene:55035 semapv:UnspecifiedMatching +OMIM:611535 major affective disorder 5 skos:exactMatch MONDO:0012685 semapv:UnspecifiedMatching +OMIM:611536 major affective disorder 6 skos:exactMatch MONDO:0012686 semapv:UnspecifiedMatching +OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:15879 semapv:UnspecifiedMatching +OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:CTNNBL1 semapv:UnspecifiedMatching +OMIM:611537 CTNNBL1 skos:exactMatch ncbigene:56259 semapv:UnspecifiedMatching +OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:8380 semapv:UnspecifiedMatching +OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:OR7D4 semapv:UnspecifiedMatching +OMIM:611538 OR7D4 skos:exactMatch ncbigene:125958 semapv:UnspecifiedMatching +OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:3804 semapv:UnspecifiedMatching +OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:FOXD3 semapv:UnspecifiedMatching +OMIM:611539 FOXD3 skos:exactMatch ncbigene:27022 semapv:UnspecifiedMatching +OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:25412 semapv:UnspecifiedMatching +OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:SGIP1 semapv:UnspecifiedMatching +OMIM:611540 SGIP1 skos:exactMatch ncbigene:84251 semapv:UnspecifiedMatching +OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:20073 semapv:UnspecifiedMatching +OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:SNX27 semapv:UnspecifiedMatching +OMIM:611541 SNX27 skos:exactMatch ncbigene:81609 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C1412554 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C4017252 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C4017253 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch UMLS:C4017254 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch hgnc.symbol:714 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch hgnc.symbol:ARSB semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch ncbigene:411 semapv:UnspecifiedMatching +OMIM:611543 cavitary optic disc anomalies skos:exactMatch MONDO:0012687 semapv:UnspecifiedMatching +OMIM:611544 cataract 17, multiple types skos:exactMatch MONDO:0012688 semapv:UnspecifiedMatching +OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:2648 semapv:UnspecifiedMatching +OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:CYP4F8 semapv:UnspecifiedMatching +OMIM:611545 CYP4F8 skos:exactMatch ncbigene:11283 semapv:UnspecifiedMatching +OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:15829 semapv:UnspecifiedMatching +OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:ELOVL6 semapv:UnspecifiedMatching +OMIM:611546 ELOVL6 skos:exactMatch ncbigene:79071 semapv:UnspecifiedMatching +OMIM:611548 premature ovarian failure 5 skos:exactMatch MONDO:0012689 semapv:UnspecifiedMatching +OMIM:611549 NALCN skos:exactMatch hgnc.symbol:19082 semapv:UnspecifiedMatching +OMIM:611549 NALCN skos:exactMatch hgnc.symbol:NALCN semapv:UnspecifiedMatching +OMIM:611549 NALCN skos:exactMatch ncbigene:259232 semapv:UnspecifiedMatching +OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:19077 semapv:UnspecifiedMatching +OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:NCR3 semapv:UnspecifiedMatching +OMIM:611550 NCR3 skos:exactMatch ncbigene:259197 semapv:UnspecifiedMatching +OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:26740 semapv:UnspecifiedMatching +OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:FBLN7 semapv:UnspecifiedMatching +OMIM:611551 FBLN7 skos:exactMatch ncbigene:129804 semapv:UnspecifiedMatching +OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:30450 semapv:UnspecifiedMatching +OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:NAPRT semapv:UnspecifiedMatching +OMIM:611552 NAPRT skos:exactMatch ncbigene:93100 semapv:UnspecifiedMatching +OMIM:611553 noonan syndrome 5 skos:exactMatch MONDO:0012690 semapv:UnspecifiedMatching +OMIM:611553 noonan syndrome 5 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:611553 noonan syndrome 5 skos:exactMatch UMLS:C1969057 semapv:UnspecifiedMatching +OMIM:611554 leopard syndrome 2 skos:exactMatch MONDO:0012691 semapv:UnspecifiedMatching +OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies skos:exactMatch MONDO:0012692 semapv:UnspecifiedMatching +OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies skos:exactMatch UMLS:C1969055 semapv:UnspecifiedMatching +OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch MONDO:0012693 semapv:UnspecifiedMatching +OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch Orphanet:137625 semapv:UnspecifiedMatching +OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch UMLS:C1969054 semapv:UnspecifiedMatching +OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:12577 semapv:UnspecifiedMatching +OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:UPK1A semapv:UnspecifiedMatching +OMIM:611557 UPK1A skos:exactMatch ncbigene:11045 semapv:UnspecifiedMatching +OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:12579 semapv:UnspecifiedMatching +OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:UPK2 semapv:UnspecifiedMatching +OMIM:611558 UPK2 skos:exactMatch ncbigene:7379 semapv:UnspecifiedMatching +OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:12580 semapv:UnspecifiedMatching +OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:UPK3A semapv:UnspecifiedMatching +OMIM:611559 UPK3A skos:exactMatch ncbigene:7380 semapv:UnspecifiedMatching +OMIM:611560 joubert syndrome 7 skos:exactMatch MONDO:0012694 semapv:UnspecifiedMatching +OMIM:611561 meckel syndrome, iia 5 skos:exactMatch MONDO:0012695 semapv:UnspecifiedMatching +OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:26348 semapv:UnspecifiedMatching +OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:SEPTIN12 semapv:UnspecifiedMatching +OMIM:611562 SEPT12 skos:exactMatch ncbigene:124404 semapv:UnspecifiedMatching +OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:32339 semapv:UnspecifiedMatching +OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:SEPTIN7P2 semapv:UnspecifiedMatching +OMIM:611563 SEPT13 skos:exactMatch ncbigene:641977 semapv:UnspecifiedMatching +OMIM:611564 BANP skos:exactMatch UMLS:C1538317 semapv:UnspecifiedMatching +OMIM:611564 BANP skos:exactMatch hgnc.symbol:13450 semapv:UnspecifiedMatching +OMIM:611564 BANP skos:exactMatch hgnc.symbol:BANP semapv:UnspecifiedMatching +OMIM:611564 BANP skos:exactMatch ncbigene:54971 semapv:UnspecifiedMatching +OMIM:611565 BLTP1 skos:exactMatch hgnc.symbol:BLTP1 semapv:UnspecifiedMatching +OMIM:611565 BLTP1 skos:exactMatch ncbigene:84162 semapv:UnspecifiedMatching +OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:9463 semapv:UnspecifiedMatching +OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:PRPS1L1 semapv:UnspecifiedMatching +OMIM:611566 PRPS1L1 skos:exactMatch ncbigene:221823 semapv:UnspecifiedMatching +OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:16126 semapv:UnspecifiedMatching +OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:MACROD2 semapv:UnspecifiedMatching +OMIM:611567 MACROD2 skos:exactMatch ncbigene:140733 semapv:UnspecifiedMatching +OMIM:611568 SYBU skos:exactMatch hgnc.symbol:26011 semapv:UnspecifiedMatching +OMIM:611568 SYBU skos:exactMatch hgnc.symbol:SYBU semapv:UnspecifiedMatching +OMIM:611568 SYBU skos:exactMatch ncbigene:55638 semapv:UnspecifiedMatching +OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:1990 semapv:UnspecifiedMatching +OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:CKAP2 semapv:UnspecifiedMatching +OMIM:611569 CKAP2 skos:exactMatch ncbigene:26586 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch UMLS:C1414544 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:3606 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:FBP1 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch ncbigene:2203 semapv:UnspecifiedMatching +OMIM:611571 otosclerosis 4 skos:exactMatch MONDO:0012696 semapv:UnspecifiedMatching +OMIM:611572 otosclerosis 7 skos:exactMatch MONDO:0012697 semapv:UnspecifiedMatching +OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:29799 semapv:UnspecifiedMatching +OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:SGMS1 semapv:UnspecifiedMatching +OMIM:611573 SGMS1 skos:exactMatch ncbigene:259230 semapv:UnspecifiedMatching +OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:28395 semapv:UnspecifiedMatching +OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:SGMS2 semapv:UnspecifiedMatching +OMIM:611574 SGMS2 skos:exactMatch ncbigene:166929 semapv:UnspecifiedMatching +OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:26320 semapv:UnspecifiedMatching +OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:SAMD8 semapv:UnspecifiedMatching +OMIM:611575 SAMD8 skos:exactMatch ncbigene:142891 semapv:UnspecifiedMatching +OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:31498 semapv:UnspecifiedMatching +OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:MIR10B semapv:UnspecifiedMatching +OMIM:611576 MIR10B skos:exactMatch ncbigene:406903 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch UMLS:C1428772 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch UMLS:C5193134 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:29012 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:KDM6B semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch ncbigene:23135 semapv:UnspecifiedMatching +OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:27622 semapv:UnspecifiedMatching +OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:FRRS1 semapv:UnspecifiedMatching +OMIM:611578 FRRS1 skos:exactMatch ncbigene:391059 semapv:UnspecifiedMatching +OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:33227 semapv:UnspecifiedMatching +OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:TMEM114 semapv:UnspecifiedMatching +OMIM:611579 TMEM114 skos:exactMatch ncbigene:283953 semapv:UnspecifiedMatching +OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:16978 semapv:UnspecifiedMatching +OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:EDDM3A semapv:UnspecifiedMatching +OMIM:611580 EDDM3A skos:exactMatch ncbigene:10876 semapv:UnspecifiedMatching +OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:19223 semapv:UnspecifiedMatching +OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:EDDM3B semapv:UnspecifiedMatching +OMIM:611582 FAM12B skos:exactMatch ncbigene:64184 semapv:UnspecifiedMatching +OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:17361 semapv:UnspecifiedMatching +OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:ARID5A semapv:UnspecifiedMatching +OMIM:611583 ARID5A skos:exactMatch ncbigene:10865 semapv:UnspecifiedMatching +OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch MONDO:0012698 semapv:UnspecifiedMatching +OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching +OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch UMLS:C2700405 semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch UMLS:C1823264 semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch hgnc.symbol:26065 semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch hgnc.symbol:TESC semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch ncbigene:54997 semapv:UnspecifiedMatching +OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:24182 semapv:UnspecifiedMatching +OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:C1QL1 semapv:UnspecifiedMatching +OMIM:611586 C1QL1 skos:exactMatch ncbigene:10882 semapv:UnspecifiedMatching +OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:23724 semapv:UnspecifiedMatching +OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:ARHGAP19 semapv:UnspecifiedMatching +OMIM:611587 ARHGAP19 skos:exactMatch ncbigene:84986 semapv:UnspecifiedMatching +OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch MONDO:0012699 semapv:UnspecifiedMatching +OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch Orphanet:206554 semapv:UnspecifiedMatching +OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching +OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:24888 semapv:UnspecifiedMatching +OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:PNPLA5 semapv:UnspecifiedMatching +OMIM:611589 PNPLA5 skos:exactMatch ncbigene:150379 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch MONDO:0012700 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching +OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:16981 semapv:UnspecifiedMatching +OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:PPBPP2 semapv:UnspecifiedMatching +OMIM:611591 PPBPP2 skos:exactMatch ncbigene:10895 semapv:UnspecifiedMatching +OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:21062 semapv:UnspecifiedMatching +OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:FARS2 semapv:UnspecifiedMatching +OMIM:611592 FARS2 skos:exactMatch ncbigene:10667 semapv:UnspecifiedMatching +OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:17326 semapv:UnspecifiedMatching +OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:SMR3B semapv:UnspecifiedMatching +OMIM:611593 SMR3B skos:exactMatch ncbigene:10879 semapv:UnspecifiedMatching +OMIM:611594 USP39 skos:exactMatch hgnc.symbol:20071 semapv:UnspecifiedMatching +OMIM:611594 USP39 skos:exactMatch hgnc.symbol:USP39 semapv:UnspecifiedMatching +OMIM:611594 USP39 skos:exactMatch ncbigene:10713 semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch UMLS:C1540140 semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch UMLS:C1837822 semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:30551 semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:TXNL4A semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch ncbigene:10907 semapv:UnspecifiedMatching +OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:16985 semapv:UnspecifiedMatching +OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:DHRS4 semapv:UnspecifiedMatching +OMIM:611596 DHRS4 skos:exactMatch ncbigene:10901 semapv:UnspecifiedMatching +OMIM:611597 cataract 12, multiple types skos:exactMatch MONDO:0012701 semapv:UnspecifiedMatching +OMIM:611597 cataract 12, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:611597 cataract 12, multiple types skos:exactMatch UMLS:C3808115 semapv:UnspecifiedMatching +OMIM:611598 celiac disease, susceptibility to, 6 skos:exactMatch MONDO:0012702 semapv:UnspecifiedMatching +OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:31584 semapv:UnspecifiedMatching +OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:MIR206 semapv:UnspecifiedMatching +OMIM:611599 MIR206 skos:exactMatch ncbigene:406989 semapv:UnspecifiedMatching +OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:21292 semapv:UnspecifiedMatching +OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:RIMS3 semapv:UnspecifiedMatching +OMIM:611600 RIMS3 skos:exactMatch ncbigene:9783 semapv:UnspecifiedMatching +OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:16183 semapv:UnspecifiedMatching +OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:RIMS4 semapv:UnspecifiedMatching +OMIM:611601 RIMS4 skos:exactMatch ncbigene:140730 semapv:UnspecifiedMatching +OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:30339 semapv:UnspecifiedMatching +OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:RIMBP2 semapv:UnspecifiedMatching +OMIM:611602 RIMBP2 skos:exactMatch ncbigene:23504 semapv:UnspecifiedMatching +OMIM:611603 lissencephaly 3 skos:exactMatch MONDO:0012703 semapv:UnspecifiedMatching +OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:16947 semapv:UnspecifiedMatching +OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:ERLIN1 semapv:UnspecifiedMatching +OMIM:611604 ERLIN1 skos:exactMatch ncbigene:10613 semapv:UnspecifiedMatching +OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:1356 semapv:UnspecifiedMatching +OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:ERLIN2 semapv:UnspecifiedMatching +OMIM:611605 ERLIN2 skos:exactMatch ncbigene:11160 semapv:UnspecifiedMatching +OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:31648 semapv:UnspecifiedMatching +OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:MIR96 semapv:UnspecifiedMatching +OMIM:611606 MIR96 skos:exactMatch ncbigene:407053 semapv:UnspecifiedMatching +OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:31553 semapv:UnspecifiedMatching +OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:MIR182 semapv:UnspecifiedMatching +OMIM:611607 MIR182 skos:exactMatch ncbigene:406958 semapv:UnspecifiedMatching +OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:31554 semapv:UnspecifiedMatching +OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:MIR183 semapv:UnspecifiedMatching +OMIM:611608 MIR183 skos:exactMatch ncbigene:406959 semapv:UnspecifiedMatching +OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:23800 semapv:UnspecifiedMatching +OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:SIPA1L2 semapv:UnspecifiedMatching +OMIM:611609 SIPA1L2 skos:exactMatch ncbigene:57568 semapv:UnspecifiedMatching +OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:20898 semapv:UnspecifiedMatching +OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:PGM2L1 semapv:UnspecifiedMatching +OMIM:611610 PGM2L1 skos:exactMatch ncbigene:283209 semapv:UnspecifiedMatching +OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:13081 semapv:UnspecifiedMatching +OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:SCAPER semapv:UnspecifiedMatching +OMIM:611611 SCAPER skos:exactMatch ncbigene:49855 semapv:UnspecifiedMatching +OMIM:611612 THTPA skos:exactMatch hgnc.symbol:18987 semapv:UnspecifiedMatching +OMIM:611612 THTPA skos:exactMatch hgnc.symbol:THTPA semapv:UnspecifiedMatching +OMIM:611612 THTPA skos:exactMatch ncbigene:79178 semapv:UnspecifiedMatching +OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:19350 semapv:UnspecifiedMatching +OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:POGLUT2 semapv:UnspecifiedMatching +OMIM:611613 POGLUT2 skos:exactMatch ncbigene:79070 semapv:UnspecifiedMatching +OMIM:611614 UTP3 skos:exactMatch UMLS:C1969026 semapv:UnspecifiedMatching +OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:24477 semapv:UnspecifiedMatching +OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:UTP3 semapv:UnspecifiedMatching +OMIM:611614 UTP3 skos:exactMatch ncbigene:57050 semapv:UnspecifiedMatching +OMIM:611615 cardiomyopathy, dilated, 1x skos:exactMatch MONDO:0012704 semapv:UnspecifiedMatching +OMIM:611616 NADK skos:exactMatch hgnc.symbol:29831 semapv:UnspecifiedMatching +OMIM:611616 NADK skos:exactMatch hgnc.symbol:NADK semapv:UnspecifiedMatching +OMIM:611616 NADK skos:exactMatch ncbigene:65220 semapv:UnspecifiedMatching +OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:29556 semapv:UnspecifiedMatching +OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:EFHD1 semapv:UnspecifiedMatching +OMIM:611617 EFHD1 skos:exactMatch ncbigene:80303 semapv:UnspecifiedMatching +OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:33660 semapv:UnspecifiedMatching +OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:MIR877 semapv:UnspecifiedMatching +OMIM:611619 MIR877 skos:exactMatch ncbigene:100126314 semapv:UnspecifiedMatching +OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:33923 semapv:UnspecifiedMatching +OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:MIR1224 semapv:UnspecifiedMatching +OMIM:611620 MIR1224 skos:exactMatch ncbigene:100187716 semapv:UnspecifiedMatching +OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:33931 semapv:UnspecifiedMatching +OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:MIR1225 semapv:UnspecifiedMatching +OMIM:611621 MIR1225 skos:exactMatch ncbigene:100188847 semapv:UnspecifiedMatching +OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:32406 semapv:UnspecifiedMatching +OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:IQCJ semapv:UnspecifiedMatching +OMIM:611622 IQCJ skos:exactMatch ncbigene:654502 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch UMLS:C1826394 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:24539 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:NECAP1 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch ncbigene:25977 semapv:UnspecifiedMatching +OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:25528 semapv:UnspecifiedMatching +OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:NECAP2 semapv:UnspecifiedMatching +OMIM:611624 NECAP2 skos:exactMatch ncbigene:55707 semapv:UnspecifiedMatching +OMIM:611625 GID8 skos:exactMatch hgnc.symbol:15857 semapv:UnspecifiedMatching +OMIM:611625 GID8 skos:exactMatch hgnc.symbol:GID8 semapv:UnspecifiedMatching +OMIM:611625 GID8 skos:exactMatch ncbigene:54994 semapv:UnspecifiedMatching +OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:29810 semapv:UnspecifiedMatching +OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:MPHOSPH8 semapv:UnspecifiedMatching +OMIM:611626 MPHOSPH8 skos:exactMatch ncbigene:54737 semapv:UnspecifiedMatching +OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:29646 semapv:UnspecifiedMatching +OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:TLCD3A semapv:UnspecifiedMatching +OMIM:611627 TLCD3A skos:exactMatch ncbigene:79850 semapv:UnspecifiedMatching +OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:15989 semapv:UnspecifiedMatching +OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:NAV1 semapv:UnspecifiedMatching +OMIM:611628 NAV1 skos:exactMatch ncbigene:89796 semapv:UnspecifiedMatching +OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:15998 semapv:UnspecifiedMatching +OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:NAV3 semapv:UnspecifiedMatching +OMIM:611629 NAV3 skos:exactMatch ncbigene:89795 semapv:UnspecifiedMatching +OMIM:611630 epilepsy, familial temporal lobe, 3 skos:exactMatch MONDO:0012705 semapv:UnspecifiedMatching +OMIM:611631 epilepsy, familial temporal lobe, 4 skos:exactMatch MONDO:0012706 semapv:UnspecifiedMatching +OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:30791 semapv:UnspecifiedMatching +OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:UBIAD1 semapv:UnspecifiedMatching +OMIM:611632 UBIAD1 skos:exactMatch ncbigene:29914 semapv:UnspecifiedMatching +OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:28996 semapv:UnspecifiedMatching +OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:RTF1 semapv:UnspecifiedMatching +OMIM:611633 RTF1 skos:exactMatch ncbigene:23168 semapv:UnspecifiedMatching +OMIM:611634 febrile seizures, familial, 9 skos:exactMatch MONDO:0012707 semapv:UnspecifiedMatching +OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:13802 semapv:UnspecifiedMatching +OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:NEUROD4 semapv:UnspecifiedMatching +OMIM:611635 NEUROD4 skos:exactMatch ncbigene:58158 semapv:UnspecifiedMatching +OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:14526 semapv:UnspecifiedMatching +OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:NAALAD2 semapv:UnspecifiedMatching +OMIM:611636 NAALAD2 skos:exactMatch ncbigene:10003 semapv:UnspecifiedMatching +OMIM:611637 primary lateral sclerosis, adult, 1 skos:exactMatch MONDO:0012708 semapv:UnspecifiedMatching +OMIM:611638 microphthalmia, isolated, with coloboma 5 skos:exactMatch MONDO:0012709 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch UMLS:C1999257 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:37245 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:ZGLP1 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch ncbigene:100125288 semapv:UnspecifiedMatching +OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:23527 semapv:UnspecifiedMatching +OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:FANK1 semapv:UnspecifiedMatching +OMIM:611640 FANK1 skos:exactMatch ncbigene:92565 semapv:UnspecifiedMatching +OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:34400 semapv:UnspecifiedMatching +OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:HEPN1 semapv:UnspecifiedMatching +OMIM:611641 HEPN1 skos:exactMatch ncbigene:641654 semapv:UnspecifiedMatching +OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:26361 semapv:UnspecifiedMatching +OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:HEPACAM semapv:UnspecifiedMatching +OMIM:611642 HEPACAM skos:exactMatch ncbigene:220296 semapv:UnspecifiedMatching +OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:13854 semapv:UnspecifiedMatching +OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:ZKSCAN4 semapv:UnspecifiedMatching +OMIM:611643 ZKSCAN4 skos:exactMatch ncbigene:387032 semapv:UnspecifiedMatching +OMIM:611644 hirschsprung disease, susceptibility to, 9 skos:exactMatch MONDO:0012710 semapv:UnspecifiedMatching +OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:24593 semapv:UnspecifiedMatching +OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:CXXC4 semapv:UnspecifiedMatching +OMIM:611645 CXXC4 skos:exactMatch ncbigene:80319 semapv:UnspecifiedMatching +OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:30619 semapv:UnspecifiedMatching +OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:SPHKAP semapv:UnspecifiedMatching +OMIM:611646 SPHKAP skos:exactMatch ncbigene:80309 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch UMLS:C1540200 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:29561 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:ARV1 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch ncbigene:64801 semapv:UnspecifiedMatching +OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:29035 semapv:UnspecifiedMatching +OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:PPIP5K2 semapv:UnspecifiedMatching +OMIM:611648 PPIP5K2 skos:exactMatch ncbigene:23262 semapv:UnspecifiedMatching +OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:23578 semapv:UnspecifiedMatching +OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:MINDY3 semapv:UnspecifiedMatching +OMIM:611649 MINDY3 skos:exactMatch ncbigene:80013 semapv:UnspecifiedMatching +OMIM:611650 peripapillary atrophy, beta iia skos:exactMatch MONDO:0012711 semapv:UnspecifiedMatching +OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:17934 semapv:UnspecifiedMatching +OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:PLA2G3 semapv:UnspecifiedMatching +OMIM:611651 PLA2G3 skos:exactMatch ncbigene:50487 semapv:UnspecifiedMatching +OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:18554 semapv:UnspecifiedMatching +OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:PLA2G12A semapv:UnspecifiedMatching +OMIM:611652 PLA2G12A skos:exactMatch ncbigene:81579 semapv:UnspecifiedMatching +OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:18555 semapv:UnspecifiedMatching +OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:PLA2G12B semapv:UnspecifiedMatching +OMIM:611653 PLA2G12B skos:exactMatch ncbigene:84647 semapv:UnspecifiedMatching +OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:26193 semapv:UnspecifiedMatching +OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:CSPP1 semapv:UnspecifiedMatching +OMIM:611654 CSPP1 skos:exactMatch ncbigene:79848 semapv:UnspecifiedMatching +OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:25712 semapv:UnspecifiedMatching +OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:PGAP1 semapv:UnspecifiedMatching +OMIM:611655 PGAP1 skos:exactMatch ncbigene:80055 semapv:UnspecifiedMatching +OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:26119 semapv:UnspecifiedMatching +OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:SIKE1 semapv:UnspecifiedMatching +OMIM:611656 SIKE1 skos:exactMatch ncbigene:80143 semapv:UnspecifiedMatching +OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:30628 semapv:UnspecifiedMatching +OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:SPSB1 semapv:UnspecifiedMatching +OMIM:611657 SPSB1 skos:exactMatch ncbigene:80176 semapv:UnspecifiedMatching +OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:29522 semapv:UnspecifiedMatching +OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:SPSB2 semapv:UnspecifiedMatching +OMIM:611658 SPSB2 skos:exactMatch ncbigene:84727 semapv:UnspecifiedMatching +OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:30629 semapv:UnspecifiedMatching +OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:SPSB3 semapv:UnspecifiedMatching +OMIM:611659 SPSB3 skos:exactMatch ncbigene:90864 semapv:UnspecifiedMatching +OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:30630 semapv:UnspecifiedMatching +OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:SPSB4 semapv:UnspecifiedMatching +OMIM:611660 SPSB4 skos:exactMatch ncbigene:92369 semapv:UnspecifiedMatching +OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:17883 semapv:UnspecifiedMatching +OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:DBF4B semapv:UnspecifiedMatching +OMIM:611661 DBF4B skos:exactMatch ncbigene:80174 semapv:UnspecifiedMatching +OMIM:611662 EGOT skos:exactMatch hgnc.symbol:37129 semapv:UnspecifiedMatching +OMIM:611662 EGOT skos:exactMatch hgnc.symbol:EGOT semapv:UnspecifiedMatching +OMIM:611662 EGOT skos:exactMatch ncbigene:100126791 semapv:UnspecifiedMatching +OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:16133 semapv:UnspecifiedMatching +OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:TBC1D20 semapv:UnspecifiedMatching +OMIM:611663 TBC1D20 skos:exactMatch ncbigene:128637 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch UMLS:C1426670 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:20084 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:DDX54 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch ncbigene:79039 semapv:UnspecifiedMatching +OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:23682 semapv:UnspecifiedMatching +OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:PLPP6 semapv:UnspecifiedMatching +OMIM:611666 PLPP6 skos:exactMatch ncbigene:403313 semapv:UnspecifiedMatching +OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:18650 semapv:UnspecifiedMatching +OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:SPATS2 semapv:UnspecifiedMatching +OMIM:611667 SPATS2 skos:exactMatch ncbigene:65244 semapv:UnspecifiedMatching +OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:26161 semapv:UnspecifiedMatching +OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:CORO7 semapv:UnspecifiedMatching +OMIM:611668 CORO7 skos:exactMatch ncbigene:79585 semapv:UnspecifiedMatching +OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:25980 semapv:UnspecifiedMatching +OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:TRMT1 semapv:UnspecifiedMatching +OMIM:611669 TRMT1 skos:exactMatch ncbigene:55621 semapv:UnspecifiedMatching +OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:29821 semapv:UnspecifiedMatching +OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:ISYNA1 semapv:UnspecifiedMatching +OMIM:611670 ISYNA1 skos:exactMatch ncbigene:51477 semapv:UnspecifiedMatching +OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:30596 semapv:UnspecifiedMatching +OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:PIGZ semapv:UnspecifiedMatching +OMIM:611671 PIGZ skos:exactMatch ncbigene:80235 semapv:UnspecifiedMatching +OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:30521 semapv:UnspecifiedMatching +OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:SLC46A1 semapv:UnspecifiedMatching +OMIM:611672 SLC46A1 skos:exactMatch ncbigene:113235 semapv:UnspecifiedMatching +OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:16782 semapv:UnspecifiedMatching +OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:TRMT1L semapv:UnspecifiedMatching +OMIM:611673 TRMT1L skos:exactMatch ncbigene:81627 semapv:UnspecifiedMatching +OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:28778 semapv:UnspecifiedMatching +OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:XKR3 semapv:UnspecifiedMatching +OMIM:611674 XKR3 skos:exactMatch ncbigene:150165 semapv:UnspecifiedMatching +OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:29058 semapv:UnspecifiedMatching +OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:KIAA0513 semapv:UnspecifiedMatching +OMIM:611675 KIAA0513 skos:exactMatch ncbigene:9764 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch UMLS:C1428867 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:29524 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:PDCL2 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch ncbigene:132954 semapv:UnspecifiedMatching +OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:14999 semapv:UnspecifiedMatching +OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:OR13G1 semapv:UnspecifiedMatching +OMIM:611677 OR13G1 skos:exactMatch ncbigene:441933 semapv:UnspecifiedMatching +OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:28860 semapv:UnspecifiedMatching +OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:PDCL3 semapv:UnspecifiedMatching +OMIM:611678 PDCL3 skos:exactMatch ncbigene:79031 semapv:UnspecifiedMatching +OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:1211 semapv:UnspecifiedMatching +OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:FBXW10 semapv:UnspecifiedMatching +OMIM:611679 FBXW10 skos:exactMatch ncbigene:10517 semapv:UnspecifiedMatching +OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:28667 semapv:UnspecifiedMatching +OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:C1orf116 semapv:UnspecifiedMatching +OMIM:611680 C1ORF116 skos:exactMatch ncbigene:79098 semapv:UnspecifiedMatching +OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:17178 semapv:UnspecifiedMatching +OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:ADAMTS20 semapv:UnspecifiedMatching +OMIM:611681 ADAMTS20 skos:exactMatch ncbigene:80070 semapv:UnspecifiedMatching +OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:21210 semapv:UnspecifiedMatching +OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:LPAL2 semapv:UnspecifiedMatching +OMIM:611682 LPAL2 skos:exactMatch ncbigene:80350 semapv:UnspecifiedMatching +OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:25700 semapv:UnspecifiedMatching +OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:FN3KRP semapv:UnspecifiedMatching +OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch ncbigene:79672 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch UMLS:C1424600 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch hgnc.symbol:16860 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch hgnc.symbol:SART3 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch ncbigene:9733 semapv:UnspecifiedMatching +OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:10071 semapv:UnspecifiedMatching +OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:RNF8 semapv:UnspecifiedMatching +OMIM:611685 RNF8 skos:exactMatch ncbigene:9025 semapv:UnspecifiedMatching +OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:16014 semapv:UnspecifiedMatching +OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:CASD1 semapv:UnspecifiedMatching +OMIM:611686 CASD1 skos:exactMatch ncbigene:64921 semapv:UnspecifiedMatching +OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:33699 semapv:UnspecifiedMatching +OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:KHDC3L semapv:UnspecifiedMatching +OMIM:611687 KHDC3L skos:exactMatch ncbigene:154288 semapv:UnspecifiedMatching +OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:21366 semapv:UnspecifiedMatching +OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:KHDC1 semapv:UnspecifiedMatching +OMIM:611688 KHDC1 skos:exactMatch ncbigene:80759 semapv:UnspecifiedMatching +OMIM:611689 OOEP skos:exactMatch hgnc.symbol:21382 semapv:UnspecifiedMatching +OMIM:611689 OOEP skos:exactMatch hgnc.symbol:OOEP semapv:UnspecifiedMatching +OMIM:611689 OOEP skos:exactMatch ncbigene:441161 semapv:UnspecifiedMatching +OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:30799 semapv:UnspecifiedMatching +OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:PRRG4 semapv:UnspecifiedMatching +OMIM:611690 PRRG4 skos:exactMatch ncbigene:79056 semapv:UnspecifiedMatching +OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:15985 semapv:UnspecifiedMatching +OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:SVEP1 semapv:UnspecifiedMatching +OMIM:611691 SVEP1 skos:exactMatch ncbigene:79987 semapv:UnspecifiedMatching +OMIM:611692 ZBTB34 skos:exactMatch hgnc.symbol:31446 semapv:UnspecifiedMatching +OMIM:611692 ZBTB34 skos:exactMatch hgnc.symbol:ZBTB34 semapv:UnspecifiedMatching +OMIM:611692 ZBTB34 skos:exactMatch ncbigene:403341 semapv:UnspecifiedMatching +OMIM:611693 CLMP skos:exactMatch hgnc.symbol:24039 semapv:UnspecifiedMatching +OMIM:611693 CLMP skos:exactMatch hgnc.symbol:CLMP semapv:UnspecifiedMatching +OMIM:611693 CLMP skos:exactMatch ncbigene:79827 semapv:UnspecifiedMatching +OMIM:611694 dystonia with cerebellar atrophy skos:exactMatch MONDO:0012712 semapv:UnspecifiedMatching +OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:19141 semapv:UnspecifiedMatching +OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:TTBK2 semapv:UnspecifiedMatching +OMIM:611695 TTBK2 skos:exactMatch ncbigene:146057 semapv:UnspecifiedMatching +OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:29867 semapv:UnspecifiedMatching +OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:SLC22A20P semapv:UnspecifiedMatching +OMIM:611696 SLC22A20 skos:exactMatch ncbigene:440044 semapv:UnspecifiedMatching +OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:21106 semapv:UnspecifiedMatching +OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:SLC22A23 semapv:UnspecifiedMatching +OMIM:611697 SLC22A23 skos:exactMatch ncbigene:63027 semapv:UnspecifiedMatching +OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:28542 semapv:UnspecifiedMatching +OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:SLC22A24 semapv:UnspecifiedMatching +OMIM:611698 SLC22A24 skos:exactMatch ncbigene:283238 semapv:UnspecifiedMatching +OMIM:611699 SVOP skos:exactMatch hgnc.symbol:25417 semapv:UnspecifiedMatching +OMIM:611699 SVOP skos:exactMatch hgnc.symbol:SVOP semapv:UnspecifiedMatching +OMIM:611699 SVOP skos:exactMatch ncbigene:55530 semapv:UnspecifiedMatching +OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:27034 semapv:UnspecifiedMatching +OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:SVOPL semapv:UnspecifiedMatching +OMIM:611700 SVOPL skos:exactMatch ncbigene:136306 semapv:UnspecifiedMatching +OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:28433 semapv:UnspecifiedMatching +OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:SPNS3 semapv:UnspecifiedMatching +OMIM:611701 SPNS3 skos:exactMatch ncbigene:201305 semapv:UnspecifiedMatching +OMIM:611702 spondylometaphyseal dysplasia, east african iia skos:exactMatch MONDO:0012713 semapv:UnspecifiedMatching +OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:20814 semapv:UnspecifiedMatching +OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:ZNF436 semapv:UnspecifiedMatching +OMIM:611703 ZNF436 skos:exactMatch ncbigene:80818 semapv:UnspecifiedMatching +OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:27954 semapv:UnspecifiedMatching +OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:TMPRSS11A semapv:UnspecifiedMatching +OMIM:611704 TMPRSS11A skos:exactMatch ncbigene:339967 semapv:UnspecifiedMatching +OMIM:611705 congenital myopathy 5 with cardiomyopathy skos:exactMatch MONDO:0012714 semapv:UnspecifiedMatching +OMIM:611706 migraine with or without aura, susceptibility to, 12 skos:exactMatch MONDO:0012715 semapv:UnspecifiedMatching +OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:27279 semapv:UnspecifiedMatching +OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:MPZL3 semapv:UnspecifiedMatching +OMIM:611707 MPZL3 skos:exactMatch ncbigene:196264 semapv:UnspecifiedMatching +OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:32027 semapv:UnspecifiedMatching +OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:MIR431 semapv:UnspecifiedMatching +OMIM:611708 MIR431 skos:exactMatch ncbigene:574038 semapv:UnspecifiedMatching +OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:31509 semapv:UnspecifiedMatching +OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:MIR127 semapv:UnspecifiedMatching +OMIM:611709 MIR127 skos:exactMatch ncbigene:406914 semapv:UnspecifiedMatching +OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:31522 semapv:UnspecifiedMatching +OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:MIR136 semapv:UnspecifiedMatching +OMIM:611710 MIR136 skos:exactMatch ncbigene:406927 semapv:UnspecifiedMatching +OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:32026 semapv:UnspecifiedMatching +OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:MIR433 semapv:UnspecifiedMatching +OMIM:611711 MIR433 skos:exactMatch ncbigene:574034 semapv:UnspecifiedMatching +OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:19007 semapv:UnspecifiedMatching +OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:HIPK4 semapv:UnspecifiedMatching +OMIM:611712 HIPK4 skos:exactMatch ncbigene:147746 semapv:UnspecifiedMatching +OMIM:611713 DYNLT4 skos:exactMatch hgnc.symbol:32315 semapv:UnspecifiedMatching +OMIM:611713 DYNLT4 skos:exactMatch hgnc.symbol:DYNLT4 semapv:UnspecifiedMatching +OMIM:611713 DYNLT4 skos:exactMatch ncbigene:343521 semapv:UnspecifiedMatching +OMIM:611714 GAPVD1 skos:exactMatch hgnc.symbol:23375 semapv:UnspecifiedMatching +OMIM:611714 GAPVD1 skos:exactMatch hgnc.symbol:GAPVD1 semapv:UnspecifiedMatching +OMIM:611714 GAPVD1 skos:exactMatch ncbigene:26130 semapv:UnspecifiedMatching +OMIM:611715 SRD5A3 skos:exactMatch hgnc.symbol:25812 semapv:UnspecifiedMatching +OMIM:611715 SRD5A3 skos:exactMatch hgnc.symbol:SRD5A3 semapv:UnspecifiedMatching +OMIM:611715 SRD5A3 skos:exactMatch ncbigene:79644 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C0268355 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C0406587 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C1425544 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:18481 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:ATP6V0A2 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch ncbigene:23545 semapv:UnspecifiedMatching +OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech skos:exactMatch MONDO:0012716 semapv:UnspecifiedMatching +OMIM:611718 hypomagnesemia 4, renal skos:exactMatch MONDO:0012717 semapv:UnspecifiedMatching +OMIM:611719 combined oxidative phosphorylation deficiency 5 skos:exactMatch MONDO:0012718 semapv:UnspecifiedMatching +OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:14282 semapv:UnspecifiedMatching +OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:IRF2BPL semapv:UnspecifiedMatching +OMIM:611720 IRF2BPL skos:exactMatch ncbigene:64207 semapv:UnspecifiedMatching +OMIM:611721 combined saposin deficiency skos:exactMatch MONDO:0012719 semapv:UnspecifiedMatching +OMIM:611722 krabbe disease, atypical, due to saposin a deficiency skos:exactMatch MONDO:0012720 semapv:UnspecifiedMatching +OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:1265 semapv:UnspecifiedMatching +OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:LINC00114 semapv:UnspecifiedMatching +OMIM:611723 C21ORF24 skos:exactMatch ncbigene:400866 semapv:UnspecifiedMatching +OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:21957 semapv:UnspecifiedMatching +OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:KCTD7 semapv:UnspecifiedMatching +OMIM:611725 KCTD7 skos:exactMatch ncbigene:154881 semapv:UnspecifiedMatching +OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions skos:exactMatch MONDO:0012721 semapv:UnspecifiedMatching +OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:28274 semapv:UnspecifiedMatching +OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:FAM163A semapv:UnspecifiedMatching +OMIM:611727 C1ORF76 skos:exactMatch ncbigene:148753 semapv:UnspecifiedMatching +OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:25878 semapv:UnspecifiedMatching +OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:PRR5L semapv:UnspecifiedMatching +OMIM:611728 PRR5L skos:exactMatch ncbigene:79899 semapv:UnspecifiedMatching +OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:20716 semapv:UnspecifiedMatching +OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:KLC2 semapv:UnspecifiedMatching +OMIM:611729 KLC2 skos:exactMatch ncbigene:64837 semapv:UnspecifiedMatching +OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:19819 semapv:UnspecifiedMatching +OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:EPB41L5 semapv:UnspecifiedMatching +OMIM:611730 EPB41L5 skos:exactMatch ncbigene:57669 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C0162832 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C1861807 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C2673224 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C2673229 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C4015935 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C4017261 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C4017262 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch UMLS:C4310860 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch hgnc.symbol:583 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch hgnc.symbol:APC semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch ncbigene:324 semapv:UnspecifiedMatching +OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:21579 semapv:UnspecifiedMatching +OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:MBOAT1 semapv:UnspecifiedMatching +OMIM:611732 MBOAT1 skos:exactMatch ncbigene:154141 semapv:UnspecifiedMatching +OMIM:611733 dauwerse-peters syndrome skos:exactMatch MONDO:0012722 semapv:UnspecifiedMatching +OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:29652 semapv:UnspecifiedMatching +OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:WDR77 semapv:UnspecifiedMatching +OMIM:611734 WDR77 skos:exactMatch ncbigene:79084 semapv:UnspecifiedMatching +OMIM:611735 CDCP1 skos:exactMatch hgnc.symbol:24357 semapv:UnspecifiedMatching +OMIM:611735 CDCP1 skos:exactMatch hgnc.symbol:CDCP1 semapv:UnspecifiedMatching +OMIM:611735 CDCP1 skos:exactMatch ncbigene:64866 semapv:UnspecifiedMatching +OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:24885 semapv:UnspecifiedMatching +OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:GREB1 semapv:UnspecifiedMatching +OMIM:611736 greb1 protein skos:exactMatch ncbigene:9687 semapv:UnspecifiedMatching +OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:14349 semapv:UnspecifiedMatching +OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching +OMIM:611737 SEPT10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch UMLS:C1425564 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:18503 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch ncbigene:83875 semapv:UnspecifiedMatching +OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:101 semapv:UnspecifiedMatching +OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:ASIC3 semapv:UnspecifiedMatching +OMIM:611741 ASIC3 skos:exactMatch ncbigene:9311 semapv:UnspecifiedMatching +OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:25562 semapv:UnspecifiedMatching +OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:PLEKHG6 semapv:UnspecifiedMatching +OMIM:611743 PLEKHG6 skos:exactMatch ncbigene:55200 semapv:UnspecifiedMatching +OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:24949 semapv:UnspecifiedMatching +OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:OTUD4 semapv:UnspecifiedMatching +OMIM:611744 OTUD4 skos:exactMatch ncbigene:54726 semapv:UnspecifiedMatching +OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:30897 semapv:UnspecifiedMatching +OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:VCPIP1 semapv:UnspecifiedMatching +OMIM:611745 VCPIP1 skos:exactMatch ncbigene:80124 semapv:UnspecifiedMatching +OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:13441 semapv:UnspecifiedMatching +OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:SCUBE1 semapv:UnspecifiedMatching +OMIM:611746 SCUBE1 skos:exactMatch ncbigene:80274 semapv:UnspecifiedMatching +OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:30425 semapv:UnspecifiedMatching +OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:SCUBE2 semapv:UnspecifiedMatching +OMIM:611747 SCUBE2 skos:exactMatch ncbigene:57758 semapv:UnspecifiedMatching +OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:16683 semapv:UnspecifiedMatching +OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:OTUD7B semapv:UnspecifiedMatching +OMIM:611748 OTUD7B skos:exactMatch ncbigene:56957 semapv:UnspecifiedMatching +OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:18224 semapv:UnspecifiedMatching +OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:ZRANB1 semapv:UnspecifiedMatching +OMIM:611749 ZRANB1 skos:exactMatch ncbigene:54764 semapv:UnspecifiedMatching +OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:28897 semapv:UnspecifiedMatching +OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:SYNC semapv:UnspecifiedMatching +OMIM:611750 SYNC1 skos:exactMatch ncbigene:81493 semapv:UnspecifiedMatching +OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:14890 semapv:UnspecifiedMatching +OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:THUMPD2 semapv:UnspecifiedMatching +OMIM:611751 THUMPD2 skos:exactMatch ncbigene:80745 semapv:UnspecifiedMatching +OMIM:611752 ECRG4 skos:exactMatch UMLS:C1824107 semapv:UnspecifiedMatching +OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:24642 semapv:UnspecifiedMatching +OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:ECRG4 semapv:UnspecifiedMatching +OMIM:611752 ECRG4 skos:exactMatch ncbigene:84417 semapv:UnspecifiedMatching +OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:29559 semapv:UnspecifiedMatching +OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:VMP1 semapv:UnspecifiedMatching +OMIM:611753 VMP1 skos:exactMatch ncbigene:81671 semapv:UnspecifiedMatching +OMIM:611754 AADAT skos:exactMatch hgnc.symbol:17929 semapv:UnspecifiedMatching +OMIM:611754 AADAT skos:exactMatch hgnc.symbol:AADAT semapv:UnspecifiedMatching +OMIM:611754 AADAT skos:exactMatch ncbigene:51166 semapv:UnspecifiedMatching +OMIM:611755 leber congenital amaurosis 10 skos:exactMatch MONDO:0012723 semapv:UnspecifiedMatching +OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:24060 semapv:UnspecifiedMatching +OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:ROPN1L semapv:UnspecifiedMatching +OMIM:611756 ROPN1L skos:exactMatch ncbigene:83853 semapv:UnspecifiedMatching +OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:17692 semapv:UnspecifiedMatching +OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:ROPN1 semapv:UnspecifiedMatching +OMIM:611757 ROPN1 skos:exactMatch ncbigene:54763 semapv:UnspecifiedMatching +OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:29038 semapv:UnspecifiedMatching +OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:OTUD3 semapv:UnspecifiedMatching +OMIM:611758 OTUD3 skos:exactMatch ncbigene:23252 semapv:UnspecifiedMatching +OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:19169 semapv:UnspecifiedMatching +OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:STARD3NL semapv:UnspecifiedMatching +OMIM:611759 STARD3NL skos:exactMatch ncbigene:83930 semapv:UnspecifiedMatching +OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:14267 semapv:UnspecifiedMatching +OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:PCDH17 semapv:UnspecifiedMatching +OMIM:611760 PCDH17 skos:exactMatch ncbigene:27253 semapv:UnspecifiedMatching +OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:14154 semapv:UnspecifiedMatching +OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:LMF1 semapv:UnspecifiedMatching +OMIM:611761 LMF1 skos:exactMatch ncbigene:64788 semapv:UnspecifiedMatching +OMIM:611762 familial cold autoinflammatory syndrome 2 skos:exactMatch MONDO:0012724 semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch UMLS:C1825795 semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch hgnc.symbol:29532 semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch hgnc.symbol:LBH semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch ncbigene:81606 semapv:UnspecifiedMatching +OMIM:611764 CNFN skos:exactMatch hgnc.symbol:30183 semapv:UnspecifiedMatching +OMIM:611764 CNFN skos:exactMatch hgnc.symbol:CNFN semapv:UnspecifiedMatching +OMIM:611764 CNFN skos:exactMatch ncbigene:84518 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch UMLS:C2239905 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:26321 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:ASPRV1 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch ncbigene:151516 semapv:UnspecifiedMatching +OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:29666 semapv:UnspecifiedMatching +OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:MTFMT semapv:UnspecifiedMatching +OMIM:611766 MTFMT skos:exactMatch ncbigene:123263 semapv:UnspecifiedMatching +OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:31508 semapv:UnspecifiedMatching +OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:MIR126 semapv:UnspecifiedMatching +OMIM:611767 MIR126 skos:exactMatch ncbigene:406913 semapv:UnspecifiedMatching +OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:31773 semapv:UnspecifiedMatching +OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:MIR335 semapv:UnspecifiedMatching +OMIM:611768 MIR335 skos:exactMatch ncbigene:442904 semapv:UnspecifiedMatching +OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:31511 semapv:UnspecifiedMatching +OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:MIR128-2 semapv:UnspecifiedMatching +OMIM:611769 MIR128-2 skos:exactMatch ncbigene:406916 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch UMLS:C0041207 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1826429 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1857586 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:32940 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:NKX2-6 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch ncbigene:137814 semapv:UnspecifiedMatching +OMIM:611771 lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 semapv:UnspecifiedMatching +OMIM:611772 NUF2 skos:exactMatch UMLS:C1826495 semapv:UnspecifiedMatching +OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:14621 semapv:UnspecifiedMatching +OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:NUF2 semapv:UnspecifiedMatching +OMIM:611772 NUF2 skos:exactMatch ncbigene:83540 semapv:UnspecifiedMatching +OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps skos:exactMatch MONDO:0012726 semapv:UnspecifiedMatching +OMIM:611774 MIR128-1 skos:exactMatch hgnc.symbol:31510 semapv:UnspecifiedMatching +OMIM:611774 MIR128-1 skos:exactMatch hgnc.symbol:MIR128-1 semapv:UnspecifiedMatching +OMIM:611774 MIR128-1 skos:exactMatch ncbigene:406915 semapv:UnspecifiedMatching +OMIM:611775 kawasaki disease skos:exactMatch MONDO:0012727 semapv:UnspecifiedMatching +OMIM:611775 kawasaki disease skos:exactMatch Orphanet:2331 semapv:UnspecifiedMatching +OMIM:611775 kawasaki disease skos:exactMatch UMLS:C0026691 semapv:UnspecifiedMatching +OMIM:611775 kawasaki disease skos:exactMatch UMLS:C2936917 semapv:UnspecifiedMatching +OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:21034 semapv:UnspecifiedMatching +OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:NDUFAF4 semapv:UnspecifiedMatching +OMIM:611776 NDUFAF4 skos:exactMatch ncbigene:29078 semapv:UnspecifiedMatching +OMIM:611777 brugada syndrome 2 skos:exactMatch MONDO:0012728 semapv:UnspecifiedMatching +OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:28956 semapv:UnspecifiedMatching +OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:GPD1L semapv:UnspecifiedMatching +OMIM:611778 GPD1L skos:exactMatch ncbigene:23171 semapv:UnspecifiedMatching +OMIM:611779 FSCB skos:exactMatch hgnc.symbol:20494 semapv:UnspecifiedMatching +OMIM:611779 FSCB skos:exactMatch hgnc.symbol:FSCB semapv:UnspecifiedMatching +OMIM:611779 FSCB skos:exactMatch ncbigene:84075 semapv:UnspecifiedMatching +OMIM:611780 PHRF1 skos:exactMatch hgnc.symbol:24351 semapv:UnspecifiedMatching +OMIM:611780 PHRF1 skos:exactMatch hgnc.symbol:PHRF1 semapv:UnspecifiedMatching +OMIM:611780 PHRF1 skos:exactMatch ncbigene:57661 semapv:UnspecifiedMatching +OMIM:611781 PRDM14 skos:exactMatch hgnc.symbol:14001 semapv:UnspecifiedMatching +OMIM:611781 PRDM14 skos:exactMatch hgnc.symbol:PRDM14 semapv:UnspecifiedMatching +OMIM:611781 PRDM14 skos:exactMatch ncbigene:63978 semapv:UnspecifiedMatching +OMIM:611782 DSCAML1 skos:exactMatch hgnc.symbol:14656 semapv:UnspecifiedMatching +OMIM:611782 DSCAML1 skos:exactMatch hgnc.symbol:DSCAML1 semapv:UnspecifiedMatching +OMIM:611782 DSCAML1 skos:exactMatch ncbigene:57453 semapv:UnspecifiedMatching +OMIM:611783 erythrocytosis, familial, 4 skos:exactMatch MONDO:0012729 semapv:UnspecifiedMatching +OMIM:611784 GTF3C6 skos:exactMatch hgnc.symbol:20872 semapv:UnspecifiedMatching +OMIM:611784 GTF3C6 skos:exactMatch hgnc.symbol:GTF3C6 semapv:UnspecifiedMatching +OMIM:611784 GTF3C6 skos:exactMatch ncbigene:112495 semapv:UnspecifiedMatching +OMIM:611785 ABCB5 skos:exactMatch hgnc.symbol:46 semapv:UnspecifiedMatching +OMIM:611785 ABCB5 skos:exactMatch hgnc.symbol:ABCB5 semapv:UnspecifiedMatching +OMIM:611785 ABCB5 skos:exactMatch ncbigene:340273 semapv:UnspecifiedMatching +OMIM:611786 MEMO1 skos:exactMatch UMLS:C1422348 semapv:UnspecifiedMatching +OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:14014 semapv:UnspecifiedMatching +OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:MEMO1 semapv:UnspecifiedMatching +OMIM:611786 MEMO1 skos:exactMatch ncbigene:51072 semapv:UnspecifiedMatching +OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:27015 semapv:UnspecifiedMatching +OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:CMPK2 semapv:UnspecifiedMatching +OMIM:611787 CMPK2 skos:exactMatch ncbigene:129607 semapv:UnspecifiedMatching +OMIM:611788 aortic aneurysm, familial thoracic 6 skos:exactMatch MONDO:0012730 semapv:UnspecifiedMatching +OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:25143 semapv:UnspecifiedMatching +OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:SLC9B2 semapv:UnspecifiedMatching +OMIM:611789 NHEDC2 skos:exactMatch ncbigene:133308 semapv:UnspecifiedMatching +OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:19156 semapv:UnspecifiedMatching +OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:MYRIP semapv:UnspecifiedMatching +OMIM:611790 MYRIP skos:exactMatch ncbigene:25924 semapv:UnspecifiedMatching +OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:24776 semapv:UnspecifiedMatching +OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:PTCHD3 semapv:UnspecifiedMatching +OMIM:611791 PTCHD3 skos:exactMatch ncbigene:374308 semapv:UnspecifiedMatching +OMIM:611792 ZCCHC4 skos:exactMatch UMLS:C1427776 semapv:UnspecifiedMatching +OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:22917 semapv:UnspecifiedMatching +OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:ZCCHC4 semapv:UnspecifiedMatching +OMIM:611792 ZCCHC4 skos:exactMatch ncbigene:29063 semapv:UnspecifiedMatching +OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:26407 semapv:UnspecifiedMatching +OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:LSM12 semapv:UnspecifiedMatching +OMIM:611793 LSM12 skos:exactMatch ncbigene:124801 semapv:UnspecifiedMatching +OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:31783 semapv:UnspecifiedMatching +OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:MIR369 semapv:UnspecifiedMatching +OMIM:611794 MIR369 skos:exactMatch ncbigene:442914 semapv:UnspecifiedMatching +OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:31532 semapv:UnspecifiedMatching +OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:MIR145 semapv:UnspecifiedMatching +OMIM:611795 MIR145 skos:exactMatch ncbigene:406937 semapv:UnspecifiedMatching +OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:13707 semapv:UnspecifiedMatching +OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:SCG3 semapv:UnspecifiedMatching +OMIM:611796 SCG3 skos:exactMatch ncbigene:29106 semapv:UnspecifiedMatching +OMIM:611797 UQCC1 skos:exactMatch hgnc.symbol:15891 semapv:UnspecifiedMatching +OMIM:611797 UQCC1 skos:exactMatch hgnc.symbol:UQCC1 semapv:UnspecifiedMatching +OMIM:611797 UQCC1 skos:exactMatch ncbigene:55245 semapv:UnspecifiedMatching +OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:28970 semapv:UnspecifiedMatching +OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:EFR3A semapv:UnspecifiedMatching +OMIM:611798 EFR3A skos:exactMatch ncbigene:23167 semapv:UnspecifiedMatching +OMIM:611799 LCORL skos:exactMatch hgnc.symbol:30776 semapv:UnspecifiedMatching +OMIM:611799 LCORL skos:exactMatch hgnc.symbol:LCORL semapv:UnspecifiedMatching +OMIM:611799 LCORL skos:exactMatch ncbigene:254251 semapv:UnspecifiedMatching +OMIM:611800 THADA skos:exactMatch hgnc.symbol:19217 semapv:UnspecifiedMatching +OMIM:611800 THADA skos:exactMatch hgnc.symbol:THADA semapv:UnspecifiedMatching +OMIM:611800 THADA skos:exactMatch ncbigene:63892 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch UMLS:C1538624 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:23719 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:PGAP3 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch ncbigene:93210 semapv:UnspecifiedMatching +OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:28230 semapv:UnspecifiedMatching +OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:MIEN1 semapv:UnspecifiedMatching +OMIM:611802 MIEN1 skos:exactMatch ncbigene:84299 semapv:UnspecifiedMatching +OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:30697 semapv:UnspecifiedMatching +OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:ITFG1 semapv:UnspecifiedMatching +OMIM:611803 ITFG1 skos:exactMatch ncbigene:81533 semapv:UnspecifiedMatching +OMIM:611804 elliptocytosis 1 skos:exactMatch MONDO:0012731 semapv:UnspecifiedMatching +OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:21308 semapv:UnspecifiedMatching +OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:ELOVL5 semapv:UnspecifiedMatching +OMIM:611805 ELOVL5 skos:exactMatch ncbigene:60481 semapv:UnspecifiedMatching +OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:17452 semapv:UnspecifiedMatching +OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:AS3MT semapv:UnspecifiedMatching +OMIM:611806 AS3MT skos:exactMatch ncbigene:57412 semapv:UnspecifiedMatching +OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:30231 semapv:UnspecifiedMatching +OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:TIPRL semapv:UnspecifiedMatching +OMIM:611807 TIPRL skos:exactMatch ncbigene:261726 semapv:UnspecifiedMatching +OMIM:611808 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch MONDO:0012732 semapv:UnspecifiedMatching +OMIM:611809 bestrophinopathy, autosomal recessive skos:exactMatch MONDO:0012733 semapv:UnspecifiedMatching +OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:24058 semapv:UnspecifiedMatching +OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:USHBP1 semapv:UnspecifiedMatching +OMIM:611810 USHBP1 skos:exactMatch ncbigene:83878 semapv:UnspecifiedMatching +OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:15624 semapv:UnspecifiedMatching +OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:ZNF333 semapv:UnspecifiedMatching +OMIM:611811 ZNF333 skos:exactMatch ncbigene:84449 semapv:UnspecifiedMatching +OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs skos:exactMatch MONDO:0012734 semapv:UnspecifiedMatching +OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:14418 semapv:UnspecifiedMatching +OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:ELOVL1 semapv:UnspecifiedMatching +OMIM:611813 ELOVL1 skos:exactMatch ncbigene:64834 semapv:UnspecifiedMatching +OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:14416 semapv:UnspecifiedMatching +OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:ELOVL2 semapv:UnspecifiedMatching +OMIM:611814 ELOVL2 skos:exactMatch ncbigene:54898 semapv:UnspecifiedMatching +OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:18047 semapv:UnspecifiedMatching +OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:ELOVL3 semapv:UnspecifiedMatching +OMIM:611815 ELOVL3 skos:exactMatch ncbigene:83401 semapv:UnspecifiedMatching +OMIM:611816 temple-baraitser syndrome skos:exactMatch MONDO:0012735 semapv:UnspecifiedMatching +OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:18788 semapv:UnspecifiedMatching +OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:KLRK1 semapv:UnspecifiedMatching +OMIM:611817 KLRK1 skos:exactMatch ncbigene:22914 semapv:UnspecifiedMatching +OMIM:611818 long qt syndrome 9 skos:exactMatch MONDO:0012736 semapv:UnspecifiedMatching +OMIM:611819 long qt syndrome 10 skos:exactMatch MONDO:0012737 semapv:UnspecifiedMatching +OMIM:611820 long qt syndrome 11 skos:exactMatch MONDO:0012738 semapv:UnspecifiedMatching +OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:14275 semapv:UnspecifiedMatching +OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:MRPL1 semapv:UnspecifiedMatching +OMIM:611821 MRPL1 skos:exactMatch ncbigene:65008 semapv:UnspecifiedMatching +OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:14056 semapv:UnspecifiedMatching +OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:MRPL2 semapv:UnspecifiedMatching +OMIM:611822 MRPL2 skos:exactMatch ncbigene:51069 semapv:UnspecifiedMatching +OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:14276 semapv:UnspecifiedMatching +OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:MRPL4 semapv:UnspecifiedMatching +OMIM:611823 MRPL4 skos:exactMatch ncbigene:51073 semapv:UnspecifiedMatching +OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:14277 semapv:UnspecifiedMatching +OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:MRPL9 semapv:UnspecifiedMatching +OMIM:611824 MRPL9 skos:exactMatch ncbigene:65005 semapv:UnspecifiedMatching +OMIM:611825 MRPL10 skos:exactMatch hgnc.symbol:14055 semapv:UnspecifiedMatching +OMIM:611825 MRPL10 skos:exactMatch hgnc.symbol:MRPL10 semapv:UnspecifiedMatching +OMIM:611825 MRPL10 skos:exactMatch ncbigene:124995 semapv:UnspecifiedMatching +OMIM:611826 MRPL11 skos:exactMatch hgnc.symbol:14042 semapv:UnspecifiedMatching +OMIM:611826 MRPL11 skos:exactMatch hgnc.symbol:MRPL11 semapv:UnspecifiedMatching +OMIM:611826 MRPL11 skos:exactMatch ncbigene:65003 semapv:UnspecifiedMatching +OMIM:611827 MRPL14 skos:exactMatch hgnc.symbol:14279 semapv:UnspecifiedMatching +OMIM:611827 MRPL14 skos:exactMatch hgnc.symbol:MRPL14 semapv:UnspecifiedMatching +OMIM:611827 MRPL14 skos:exactMatch ncbigene:64928 semapv:UnspecifiedMatching +OMIM:611828 MRPL15 skos:exactMatch hgnc.symbol:14054 semapv:UnspecifiedMatching +OMIM:611828 MRPL15 skos:exactMatch hgnc.symbol:MRPL15 semapv:UnspecifiedMatching +OMIM:611828 MRPL15 skos:exactMatch ncbigene:29088 semapv:UnspecifiedMatching +OMIM:611829 MRPL16 skos:exactMatch hgnc.symbol:14476 semapv:UnspecifiedMatching +OMIM:611829 MRPL16 skos:exactMatch hgnc.symbol:MRPL16 semapv:UnspecifiedMatching +OMIM:611829 MRPL16 skos:exactMatch ncbigene:54948 semapv:UnspecifiedMatching +OMIM:611830 MRPL17 skos:exactMatch hgnc.symbol:14053 semapv:UnspecifiedMatching +OMIM:611830 MRPL17 skos:exactMatch hgnc.symbol:MRPL17 semapv:UnspecifiedMatching +OMIM:611830 MRPL17 skos:exactMatch ncbigene:63875 semapv:UnspecifiedMatching +OMIM:611831 MRPL18 skos:exactMatch hgnc.symbol:14477 semapv:UnspecifiedMatching +OMIM:611831 MRPL18 skos:exactMatch hgnc.symbol:MRPL18 semapv:UnspecifiedMatching +OMIM:611831 MRPL18 skos:exactMatch ncbigene:29074 semapv:UnspecifiedMatching +OMIM:611832 MRPL19 skos:exactMatch hgnc.symbol:14052 semapv:UnspecifiedMatching +OMIM:611832 MRPL19 skos:exactMatch hgnc.symbol:MRPL19 semapv:UnspecifiedMatching +OMIM:611832 MRPL19 skos:exactMatch ncbigene:9801 semapv:UnspecifiedMatching +OMIM:611833 MRPL20 skos:exactMatch hgnc.symbol:14478 semapv:UnspecifiedMatching +OMIM:611833 MRPL20 skos:exactMatch hgnc.symbol:MRPL20 semapv:UnspecifiedMatching +OMIM:611833 MRPL20 skos:exactMatch ncbigene:55052 semapv:UnspecifiedMatching +OMIM:611834 MRPL21 skos:exactMatch hgnc.symbol:14479 semapv:UnspecifiedMatching +OMIM:611834 MRPL21 skos:exactMatch hgnc.symbol:MRPL21 semapv:UnspecifiedMatching +OMIM:611834 MRPL21 skos:exactMatch ncbigene:219927 semapv:UnspecifiedMatching +OMIM:611835 MRPL22 skos:exactMatch hgnc.symbol:14480 semapv:UnspecifiedMatching +OMIM:611835 MRPL22 skos:exactMatch hgnc.symbol:MRPL22 semapv:UnspecifiedMatching +OMIM:611835 MRPL22 skos:exactMatch ncbigene:29093 semapv:UnspecifiedMatching +OMIM:611836 MRPL24 skos:exactMatch hgnc.symbol:14037 semapv:UnspecifiedMatching +OMIM:611836 MRPL24 skos:exactMatch hgnc.symbol:MRPL24 semapv:UnspecifiedMatching +OMIM:611836 MRPL24 skos:exactMatch ncbigene:79590 semapv:UnspecifiedMatching +OMIM:611837 MRPL27 skos:exactMatch hgnc.symbol:14483 semapv:UnspecifiedMatching +OMIM:611837 MRPL27 skos:exactMatch hgnc.symbol:MRPL27 semapv:UnspecifiedMatching +OMIM:611837 MRPL27 skos:exactMatch ncbigene:51264 semapv:UnspecifiedMatching +OMIM:611838 MRPL30 skos:exactMatch hgnc.symbol:14036 semapv:UnspecifiedMatching +OMIM:611838 MRPL30 skos:exactMatch hgnc.symbol:MRPL30 semapv:UnspecifiedMatching +OMIM:611838 MRPL30 skos:exactMatch ncbigene:51263 semapv:UnspecifiedMatching +OMIM:611839 MRPL32 skos:exactMatch hgnc.symbol:14035 semapv:UnspecifiedMatching +OMIM:611839 MRPL32 skos:exactMatch hgnc.symbol:MRPL32 semapv:UnspecifiedMatching +OMIM:611839 MRPL32 skos:exactMatch ncbigene:64983 semapv:UnspecifiedMatching +OMIM:611840 MRPL34 skos:exactMatch hgnc.symbol:14488 semapv:UnspecifiedMatching +OMIM:611840 MRPL34 skos:exactMatch hgnc.symbol:MRPL34 semapv:UnspecifiedMatching +OMIM:611840 MRPL34 skos:exactMatch ncbigene:64981 semapv:UnspecifiedMatching +OMIM:611841 MRPL35 skos:exactMatch hgnc.symbol:14489 semapv:UnspecifiedMatching +OMIM:611841 MRPL35 skos:exactMatch hgnc.symbol:MRPL35 semapv:UnspecifiedMatching +OMIM:611841 MRPL35 skos:exactMatch ncbigene:51318 semapv:UnspecifiedMatching +OMIM:611842 MRPL36 skos:exactMatch hgnc.symbol:14490 semapv:UnspecifiedMatching +OMIM:611842 MRPL36 skos:exactMatch hgnc.symbol:MRPL36 semapv:UnspecifiedMatching +OMIM:611842 MRPL36 skos:exactMatch ncbigene:64979 semapv:UnspecifiedMatching +OMIM:611843 MRPL37 skos:exactMatch hgnc.symbol:14034 semapv:UnspecifiedMatching +OMIM:611843 MRPL37 skos:exactMatch hgnc.symbol:MRPL37 semapv:UnspecifiedMatching +OMIM:611843 MRPL37 skos:exactMatch ncbigene:51253 semapv:UnspecifiedMatching +OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:14033 semapv:UnspecifiedMatching +OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:MRPL38 semapv:UnspecifiedMatching +OMIM:611844 MRPL38 skos:exactMatch ncbigene:64978 semapv:UnspecifiedMatching +OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:14027 semapv:UnspecifiedMatching +OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:MRPL39 semapv:UnspecifiedMatching +OMIM:611845 MRPL39 skos:exactMatch ncbigene:54148 semapv:UnspecifiedMatching +OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:14492 semapv:UnspecifiedMatching +OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:MRPL41 semapv:UnspecifiedMatching +OMIM:611846 MRPL41 skos:exactMatch ncbigene:64975 semapv:UnspecifiedMatching +OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:14493 semapv:UnspecifiedMatching +OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:MRPL42 semapv:UnspecifiedMatching +OMIM:611847 MRPL42 skos:exactMatch ncbigene:28977 semapv:UnspecifiedMatching +OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:14517 semapv:UnspecifiedMatching +OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:MRPL43 semapv:UnspecifiedMatching +OMIM:611848 MRPL43 skos:exactMatch ncbigene:84545 semapv:UnspecifiedMatching +OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:16650 semapv:UnspecifiedMatching +OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:MRPL44 semapv:UnspecifiedMatching +OMIM:611849 MRPL44 skos:exactMatch ncbigene:65080 semapv:UnspecifiedMatching +OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:16651 semapv:UnspecifiedMatching +OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:MRPL45 semapv:UnspecifiedMatching +OMIM:611850 MRPL45 skos:exactMatch ncbigene:84311 semapv:UnspecifiedMatching +OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:1192 semapv:UnspecifiedMatching +OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:MRPL46 semapv:UnspecifiedMatching +OMIM:611851 MRPL46 skos:exactMatch ncbigene:26589 semapv:UnspecifiedMatching +OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:16652 semapv:UnspecifiedMatching +OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:MRPL47 semapv:UnspecifiedMatching +OMIM:611852 MRPL47 skos:exactMatch ncbigene:57129 semapv:UnspecifiedMatching +OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:16653 semapv:UnspecifiedMatching +OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:MRPL48 semapv:UnspecifiedMatching +OMIM:611853 MRPL48 skos:exactMatch ncbigene:51642 semapv:UnspecifiedMatching +OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:16654 semapv:UnspecifiedMatching +OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:MRPL50 semapv:UnspecifiedMatching +OMIM:611854 MRPL50 skos:exactMatch ncbigene:54534 semapv:UnspecifiedMatching +OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:14044 semapv:UnspecifiedMatching +OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:MRPL51 semapv:UnspecifiedMatching +OMIM:611855 MRPL51 skos:exactMatch ncbigene:51258 semapv:UnspecifiedMatching +OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:16655 semapv:UnspecifiedMatching +OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:MRPL52 semapv:UnspecifiedMatching +OMIM:611856 MRPL52 skos:exactMatch ncbigene:122704 semapv:UnspecifiedMatching +OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:16684 semapv:UnspecifiedMatching +OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:MRPL53 semapv:UnspecifiedMatching +OMIM:611857 MRPL53 skos:exactMatch ncbigene:116540 semapv:UnspecifiedMatching +OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:16685 semapv:UnspecifiedMatching +OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:MRPL54 semapv:UnspecifiedMatching +OMIM:611858 MRPL54 skos:exactMatch ncbigene:116541 semapv:UnspecifiedMatching +OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:16686 semapv:UnspecifiedMatching +OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:MRPL55 semapv:UnspecifiedMatching +OMIM:611859 MRPL55 skos:exactMatch ncbigene:128308 semapv:UnspecifiedMatching +OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:25250 semapv:UnspecifiedMatching +OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:ADPGK semapv:UnspecifiedMatching +OMIM:611861 ADPGK skos:exactMatch ncbigene:83440 semapv:UnspecifiedMatching +OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma skos:exactMatch MONDO:0012739 semapv:UnspecifiedMatching +OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:21706 semapv:UnspecifiedMatching +OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:ARMC10 semapv:UnspecifiedMatching +OMIM:611864 ARMC10 skos:exactMatch ncbigene:83787 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch UMLS:C1425632 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:18594 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:L3MBTL2 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch ncbigene:83746 semapv:UnspecifiedMatching +OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:15847 semapv:UnspecifiedMatching +OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:RBP5 semapv:UnspecifiedMatching +OMIM:611866 RBP5 skos:exactMatch ncbigene:83758 semapv:UnspecifiedMatching +OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch MONDO:0012740 semapv:UnspecifiedMatching +OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 semapv:UnspecifiedMatching +OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch UMLS:C2678480 semapv:UnspecifiedMatching +OMIM:611868 prostate cancer, hereditary, 12 skos:exactMatch MONDO:0012741 semapv:UnspecifiedMatching +OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:24817 semapv:UnspecifiedMatching +OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:RABEP2 semapv:UnspecifiedMatching +OMIM:611869 RABEP2 skos:exactMatch ncbigene:79874 semapv:UnspecifiedMatching +OMIM:611870 CNTLN skos:exactMatch hgnc.symbol:23432 semapv:UnspecifiedMatching +OMIM:611870 CNTLN skos:exactMatch hgnc.symbol:CNTLN semapv:UnspecifiedMatching +OMIM:611870 CNTLN skos:exactMatch ncbigene:54875 semapv:UnspecifiedMatching +OMIM:611871 RMDN1 skos:exactMatch hgnc.symbol:24285 semapv:UnspecifiedMatching +OMIM:611871 RMDN1 skos:exactMatch hgnc.symbol:RMDN1 semapv:UnspecifiedMatching +OMIM:611871 RMDN1 skos:exactMatch ncbigene:51115 semapv:UnspecifiedMatching +OMIM:611872 RMDN2 skos:exactMatch hgnc.symbol:26567 semapv:UnspecifiedMatching +OMIM:611872 RMDN2 skos:exactMatch hgnc.symbol:RMDN2 semapv:UnspecifiedMatching +OMIM:611872 RMDN2 skos:exactMatch ncbigene:151393 semapv:UnspecifiedMatching +OMIM:611873 RMDN3 skos:exactMatch hgnc.symbol:25550 semapv:UnspecifiedMatching +OMIM:611873 RMDN3 skos:exactMatch hgnc.symbol:RMDN3 semapv:UnspecifiedMatching +OMIM:611873 RMDN3 skos:exactMatch ncbigene:55177 semapv:UnspecifiedMatching +OMIM:611874 NENF skos:exactMatch hgnc.symbol:30384 semapv:UnspecifiedMatching +OMIM:611874 NENF skos:exactMatch hgnc.symbol:NENF semapv:UnspecifiedMatching +OMIM:611874 NENF skos:exactMatch ncbigene:29937 semapv:UnspecifiedMatching +OMIM:611875 brugada syndrome 3 skos:exactMatch MONDO:0012742 semapv:UnspecifiedMatching +OMIM:611876 brugada syndrome 4 skos:exactMatch MONDO:0012743 semapv:UnspecifiedMatching +OMIM:611877 BAIAP2L1 skos:exactMatch hgnc.symbol:21649 semapv:UnspecifiedMatching +OMIM:611877 BAIAP2L1 skos:exactMatch hgnc.symbol:BAIAP2L1 semapv:UnspecifiedMatching +OMIM:611877 BAIAP2L1 skos:exactMatch ncbigene:55971 semapv:UnspecifiedMatching +OMIM:611878 cardiomyopathy, dilated, 1y skos:exactMatch MONDO:0012744 semapv:UnspecifiedMatching +OMIM:611879 cardiomyopathy, dilated, 1z skos:exactMatch MONDO:0012745 semapv:UnspecifiedMatching +OMIM:611880 cardiomyopathy, dilated, 2a skos:exactMatch MONDO:0012746 semapv:UnspecifiedMatching +OMIM:611881 glycogen storage disease 12 skos:exactMatch MONDO:0012747 semapv:UnspecifiedMatching +OMIM:611882 PNRC2 skos:exactMatch hgnc.symbol:23158 semapv:UnspecifiedMatching +OMIM:611882 PNRC2 skos:exactMatch hgnc.symbol:PNRC2 semapv:UnspecifiedMatching +OMIM:611882 PNRC2 skos:exactMatch ncbigene:55629 semapv:UnspecifiedMatching +OMIM:611883 BCCIP skos:exactMatch hgnc.symbol:978 semapv:UnspecifiedMatching +OMIM:611883 BCCIP skos:exactMatch hgnc.symbol:BCCIP semapv:UnspecifiedMatching +OMIM:611883 BCCIP skos:exactMatch ncbigene:56647 semapv:UnspecifiedMatching +OMIM:611884 ciliary dyskinesia, primary, 7 skos:exactMatch MONDO:0012748 semapv:UnspecifiedMatching +OMIM:611885 SHARPIN skos:exactMatch hgnc.symbol:25321 semapv:UnspecifiedMatching +OMIM:611885 SHARPIN skos:exactMatch hgnc.symbol:SHARPIN semapv:UnspecifiedMatching +OMIM:611885 SHARPIN skos:exactMatch ncbigene:81858 semapv:UnspecifiedMatching +OMIM:611886 mesomelic dysplasia, camera iia skos:exactMatch MONDO:0012749 semapv:UnspecifiedMatching +OMIM:611887 UPK3B skos:exactMatch hgnc.symbol:21444 semapv:UnspecifiedMatching +OMIM:611887 UPK3B skos:exactMatch hgnc.symbol:UPK3B semapv:UnspecifiedMatching +OMIM:611887 UPK3B skos:exactMatch ncbigene:105375355 semapv:UnspecifiedMatching +OMIM:611888 ERF skos:exactMatch hgnc.symbol:3444 semapv:UnspecifiedMatching +OMIM:611888 ERF skos:exactMatch hgnc.symbol:ERF semapv:UnspecifiedMatching +OMIM:611888 ERF skos:exactMatch ncbigene:2077 semapv:UnspecifiedMatching +OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:25768 semapv:UnspecifiedMatching +OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:S100PBP semapv:UnspecifiedMatching +OMIM:611889 S100PBP skos:exactMatch ncbigene:64766 semapv:UnspecifiedMatching +OMIM:611890 congenital arthrogryposis with anterior horn cell disease skos:exactMatch MONDO:0012750 semapv:UnspecifiedMatching +OMIM:611891 aortic aneurysm, familial abdominal, 3 skos:exactMatch MONDO:0012751 semapv:UnspecifiedMatching +OMIM:611892 aneurysm, intracranial berry, 6 skos:exactMatch MONDO:0012752 semapv:UnspecifiedMatching +OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:29515 semapv:UnspecifiedMatching +OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:PLEKHG2 semapv:UnspecifiedMatching +OMIM:611893 PLEKHG2 skos:exactMatch ncbigene:64857 semapv:UnspecifiedMatching +OMIM:611894 MIR140 skos:exactMatch hgnc.symbol:31527 semapv:UnspecifiedMatching +OMIM:611894 MIR140 skos:exactMatch hgnc.symbol:MIR140 semapv:UnspecifiedMatching +OMIM:611894 MIR140 skos:exactMatch ncbigene:406932 semapv:UnspecifiedMatching +OMIM:611895 amyotrophic lateral sclerosis 9 skos:exactMatch MONDO:0012753 semapv:UnspecifiedMatching +OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:14665 semapv:UnspecifiedMatching +OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:RTL1 semapv:UnspecifiedMatching +OMIM:611896 RTL1 skos:exactMatch ncbigene:388015 semapv:UnspecifiedMatching +OMIM:611897 nanophthalmos 3 skos:exactMatch MONDO:0012754 semapv:UnspecifiedMatching +OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:24622 semapv:UnspecifiedMatching +OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:ENGASE semapv:UnspecifiedMatching +OMIM:611898 ENGASE skos:exactMatch ncbigene:64772 semapv:UnspecifiedMatching +OMIM:611899 MIR203A skos:exactMatch hgnc.symbol:31581 semapv:UnspecifiedMatching +OMIM:611899 MIR203A skos:exactMatch hgnc.symbol:MIR203A semapv:UnspecifiedMatching +OMIM:611899 MIR203A skos:exactMatch ncbigene:406986 semapv:UnspecifiedMatching +OMIM:611900 MPPE1 skos:exactMatch hgnc.symbol:15988 semapv:UnspecifiedMatching +OMIM:611900 MPPE1 skos:exactMatch hgnc.symbol:MPPE1 semapv:UnspecifiedMatching +OMIM:611900 MPPE1 skos:exactMatch ncbigene:65258 semapv:UnspecifiedMatching +OMIM:611901 VWA1 skos:exactMatch hgnc.symbol:30910 semapv:UnspecifiedMatching +OMIM:611901 VWA1 skos:exactMatch hgnc.symbol:VWA1 semapv:UnspecifiedMatching +OMIM:611901 VWA1 skos:exactMatch ncbigene:64856 semapv:UnspecifiedMatching +OMIM:611902 CCDC136 skos:exactMatch hgnc.symbol:22225 semapv:UnspecifiedMatching +OMIM:611902 CCDC136 skos:exactMatch hgnc.symbol:CCDC136 semapv:UnspecifiedMatching +OMIM:611902 CCDC136 skos:exactMatch ncbigene:64753 semapv:UnspecifiedMatching +OMIM:611903 ZNF649 skos:exactMatch hgnc.symbol:25741 semapv:UnspecifiedMatching +OMIM:611903 ZNF649 skos:exactMatch hgnc.symbol:ZNF649 semapv:UnspecifiedMatching +OMIM:611903 ZNF649 skos:exactMatch ncbigene:65251 semapv:UnspecifiedMatching +OMIM:611904 PLET1 skos:exactMatch hgnc.symbol:30053 semapv:UnspecifiedMatching +OMIM:611904 PLET1 skos:exactMatch hgnc.symbol:PLET1 semapv:UnspecifiedMatching +OMIM:611904 PLET1 skos:exactMatch ncbigene:349633 semapv:UnspecifiedMatching +OMIM:611905 FNDC4 skos:exactMatch hgnc.symbol:20239 semapv:UnspecifiedMatching +OMIM:611905 FNDC4 skos:exactMatch hgnc.symbol:FNDC4 semapv:UnspecifiedMatching +OMIM:611905 FNDC4 skos:exactMatch ncbigene:64838 semapv:UnspecifiedMatching +OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:20240 semapv:UnspecifiedMatching +OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:FNDC5 semapv:UnspecifiedMatching +OMIM:611906 FNDC5 skos:exactMatch ncbigene:252995 semapv:UnspecifiedMatching +OMIM:611907 episodic ataxia, iia 7 skos:exactMatch MONDO:0012755 semapv:UnspecifiedMatching +OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:30220 semapv:UnspecifiedMatching +OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:RFT1 semapv:UnspecifiedMatching +OMIM:611908 RFT1 skos:exactMatch ncbigene:91869 semapv:UnspecifiedMatching +OMIM:611909 FNDC3B skos:exactMatch hgnc.symbol:24670 semapv:UnspecifiedMatching +OMIM:611909 FNDC3B skos:exactMatch hgnc.symbol:FNDC3B semapv:UnspecifiedMatching +OMIM:611909 FNDC3B skos:exactMatch ncbigene:64778 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch UMLS:C1427911 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch UMLS:C4310859 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch hgnc.symbol:23094 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch hgnc.symbol:SLC16A12 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch ncbigene:387700 semapv:UnspecifiedMatching +OMIM:611911 ISCU skos:exactMatch hgnc.symbol:29882 semapv:UnspecifiedMatching +OMIM:611911 ISCU skos:exactMatch hgnc.symbol:ISCU semapv:UnspecifiedMatching +OMIM:611911 ISCU skos:exactMatch ncbigene:23479 semapv:UnspecifiedMatching +OMIM:611912 NUCKS1 skos:exactMatch hgnc.symbol:29923 semapv:UnspecifiedMatching +OMIM:611912 NUCKS1 skos:exactMatch hgnc.symbol:NUCKS1 semapv:UnspecifiedMatching +OMIM:611912 NUCKS1 skos:exactMatch ncbigene:64710 semapv:UnspecifiedMatching +OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch MONDO:0012756 semapv:UnspecifiedMatching +OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch Orphanet:261197 semapv:UnspecifiedMatching +OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching +OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3552491 semapv:UnspecifiedMatching +OMIM:611914 TSC22D4 skos:exactMatch hgnc.symbol:21696 semapv:UnspecifiedMatching +OMIM:611914 TSC22D4 skos:exactMatch hgnc.symbol:TSC22D4 semapv:UnspecifiedMatching +OMIM:611914 TSC22D4 skos:exactMatch ncbigene:81628 semapv:UnspecifiedMatching +OMIM:611915 VOPP1 skos:exactMatch hgnc.symbol:34518 semapv:UnspecifiedMatching +OMIM:611915 VOPP1 skos:exactMatch hgnc.symbol:VOPP1 semapv:UnspecifiedMatching +OMIM:611915 VOPP1 skos:exactMatch ncbigene:81552 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch UMLS:C2239306 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch UMLS:C5394585 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch hgnc.symbol:26674 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch hgnc.symbol:COL6A5 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch ncbigene:256076 semapv:UnspecifiedMatching +OMIM:611917 KDM8 skos:exactMatch hgnc.symbol:25840 semapv:UnspecifiedMatching +OMIM:611917 KDM8 skos:exactMatch hgnc.symbol:KDM8 semapv:UnspecifiedMatching +OMIM:611917 KDM8 skos:exactMatch ncbigene:79831 semapv:UnspecifiedMatching +OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:20968 semapv:UnspecifiedMatching +OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:RIOX1 semapv:UnspecifiedMatching +OMIM:611919 RIOX1 skos:exactMatch ncbigene:79697 semapv:UnspecifiedMatching +OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:16690 semapv:UnspecifiedMatching +OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:GJB7 semapv:UnspecifiedMatching +OMIM:611921 GJB7 skos:exactMatch ncbigene:375519 semapv:UnspecifiedMatching +OMIM:611922 GJD4 skos:exactMatch hgnc.symbol:23296 semapv:UnspecifiedMatching +OMIM:611922 GJD4 skos:exactMatch hgnc.symbol:GJD4 semapv:UnspecifiedMatching +OMIM:611922 GJD4 skos:exactMatch ncbigene:219770 semapv:UnspecifiedMatching +OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:19155 semapv:UnspecifiedMatching +OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:GJA9 semapv:UnspecifiedMatching +OMIM:611923 GJA9 skos:exactMatch ncbigene:81025 semapv:UnspecifiedMatching +OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:16995 semapv:UnspecifiedMatching +OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:GJA10 semapv:UnspecifiedMatching +OMIM:611924 GJA10 skos:exactMatch ncbigene:84694 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch UMLS:C2677835 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:17495 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:GJC3 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch ncbigene:349149 semapv:UnspecifiedMatching +OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis skos:exactMatch MONDO:0012757 semapv:UnspecifiedMatching +OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:24797 semapv:UnspecifiedMatching +OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:FAM83H semapv:UnspecifiedMatching +OMIM:611927 FAM83H skos:exactMatch ncbigene:286077 semapv:UnspecifiedMatching +OMIM:611928 prostate cancer, hereditary, 13 skos:exactMatch MONDO:0012758 semapv:UnspecifiedMatching +OMIM:611929 camptodactyly syndrome, guadalajara, iia 3 skos:exactMatch MONDO:0012759 semapv:UnspecifiedMatching +OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:25745 semapv:UnspecifiedMatching +OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:ISG20L2 semapv:UnspecifiedMatching +OMIM:611930 ISG20L2 skos:exactMatch ncbigene:81875 semapv:UnspecifiedMatching +OMIM:611931 PPM1L skos:exactMatch hgnc.symbol:16381 semapv:UnspecifiedMatching +OMIM:611931 PPM1L skos:exactMatch hgnc.symbol:PPM1L semapv:UnspecifiedMatching +OMIM:611931 PPM1L skos:exactMatch ncbigene:151742 semapv:UnspecifiedMatching +OMIM:611932 CISD1 skos:exactMatch hgnc.symbol:30880 semapv:UnspecifiedMatching +OMIM:611932 CISD1 skos:exactMatch hgnc.symbol:CISD1 semapv:UnspecifiedMatching +OMIM:611932 CISD1 skos:exactMatch ncbigene:55847 semapv:UnspecifiedMatching +OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:27578 semapv:UnspecifiedMatching +OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:CISD3 semapv:UnspecifiedMatching +OMIM:611933 CISD3 skos:exactMatch ncbigene:284106 semapv:UnspecifiedMatching +OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch MONDO:0012760 semapv:UnspecifiedMatching +OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:25221 semapv:UnspecifiedMatching +OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:MMADHC semapv:UnspecifiedMatching +OMIM:611935 MMADHC skos:exactMatch ncbigene:27249 semapv:UnspecifiedMatching +OMIM:611936 chromosome 3q29 duplication syndrome skos:exactMatch MONDO:0012761 semapv:UnspecifiedMatching +OMIM:611937 IGHD3-3 skos:exactMatch hgnc.symbol:5498 semapv:UnspecifiedMatching +OMIM:611937 IGHD3-3 skos:exactMatch hgnc.symbol:IGHD3-3 semapv:UnspecifiedMatching +OMIM:611937 IGHD3-3 skos:exactMatch ncbigene:28501 semapv:UnspecifiedMatching +OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 skos:exactMatch MONDO:0012762 semapv:UnspecifiedMatching +OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:5588 semapv:UnspecifiedMatching +OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:IGHV3-23 semapv:UnspecifiedMatching +OMIM:611939 IGHV3-23 skos:exactMatch ncbigene:28442 semapv:UnspecifiedMatching +OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:32311 semapv:UnspecifiedMatching +OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:MBOAT4 semapv:UnspecifiedMatching +OMIM:611940 MBOAT4 skos:exactMatch ncbigene:619373 semapv:UnspecifiedMatching +OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:30123 semapv:UnspecifiedMatching +OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:ATAD2 semapv:UnspecifiedMatching +OMIM:611941 ATAD2 skos:exactMatch ncbigene:29028 semapv:UnspecifiedMatching +OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch MONDO:0012763 semapv:UnspecifiedMatching +OMIM:611943 riddle syndrome skos:exactMatch MONDO:0012764 semapv:UnspecifiedMatching +OMIM:611944 lymphatic malformation 2 skos:exactMatch MONDO:0012765 semapv:UnspecifiedMatching +OMIM:611945 spastic paraplegia 37, autosomal dominant skos:exactMatch MONDO:0012766 semapv:UnspecifiedMatching +OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:14928 semapv:UnspecifiedMatching +OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:UBXN6 semapv:UnspecifiedMatching +OMIM:611946 UBXN6 skos:exactMatch ncbigene:80700 semapv:UnspecifiedMatching +OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:29890 semapv:UnspecifiedMatching +OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:NLRX1 semapv:UnspecifiedMatching +OMIM:611947 NLRX1 skos:exactMatch ncbigene:79671 semapv:UnspecifiedMatching +OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:25193 semapv:UnspecifiedMatching +OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:MBOAT2 semapv:UnspecifiedMatching +OMIM:611949 MBOAT2 skos:exactMatch ncbigene:129642 semapv:UnspecifiedMatching +OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:30244 semapv:UnspecifiedMatching +OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:LPCAT3 semapv:UnspecifiedMatching +OMIM:611950 LPCAT3 skos:exactMatch ncbigene:10162 semapv:UnspecifiedMatching +OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:28636 semapv:UnspecifiedMatching +OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:B9D2 semapv:UnspecifiedMatching +OMIM:611951 B9D2 skos:exactMatch ncbigene:80776 semapv:UnspecifiedMatching +OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:18178 semapv:UnspecifiedMatching +OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:VPS28 semapv:UnspecifiedMatching +OMIM:611952 VPS28 skos:exactMatch ncbigene:51160 semapv:UnspecifiedMatching +OMIM:611953 macular degeneration, age-related, 11 skos:exactMatch MONDO:0012767 semapv:UnspecifiedMatching +OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:31787 semapv:UnspecifiedMatching +OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:MIR373 semapv:UnspecifiedMatching +OMIM:611954 MIR373 skos:exactMatch ncbigene:442918 semapv:UnspecifiedMatching +OMIM:611955 prostate cancer, hereditary, 11 skos:exactMatch MONDO:0012768 semapv:UnspecifiedMatching +OMIM:611956 C3ORF52 skos:exactMatch hgnc.symbol:26255 semapv:UnspecifiedMatching +OMIM:611956 C3ORF52 skos:exactMatch hgnc.symbol:C3orf52 semapv:UnspecifiedMatching +OMIM:611956 C3ORF52 skos:exactMatch ncbigene:79669 semapv:UnspecifiedMatching +OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:31871 semapv:UnspecifiedMatching +OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:MIR378A semapv:UnspecifiedMatching +OMIM:611957 MIRN378 skos:exactMatch ncbigene:494327 semapv:UnspecifiedMatching +OMIM:611958 prostate cancer, hereditary, 14 skos:exactMatch MONDO:0012769 semapv:UnspecifiedMatching +OMIM:611959 prostate cancer, hereditary, 15 skos:exactMatch MONDO:0012770 semapv:UnspecifiedMatching +OMIM:611960 asthma-related traits, susceptibility to, 7 skos:exactMatch MONDO:0012771 semapv:UnspecifiedMatching +OMIM:611961 stevenson-carey syndrome skos:exactMatch MONDO:0012772 semapv:UnspecifiedMatching +OMIM:611962 hunter-macdonald syndrome skos:exactMatch MONDO:0012773 semapv:UnspecifiedMatching +OMIM:611962 hunter-macdonald syndrome skos:exactMatch UMLS:C2677745 semapv:UnspecifiedMatching +OMIM:611963 acyl-coa thioesterase 7-like skos:exactMatch ncbigene:344967 semapv:UnspecifiedMatching +OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:24374 semapv:UnspecifiedMatching +OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:CYB5B semapv:UnspecifiedMatching +OMIM:611964 CYB5B skos:exactMatch ncbigene:80777 semapv:UnspecifiedMatching +OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:29874 semapv:UnspecifiedMatching +OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:THOC7 semapv:UnspecifiedMatching +OMIM:611965 THOC7 skos:exactMatch ncbigene:80145 semapv:UnspecifiedMatching +OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:30832 semapv:UnspecifiedMatching +OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:TRAPPC9 semapv:UnspecifiedMatching +OMIM:611966 TRAPPC9 skos:exactMatch ncbigene:83696 semapv:UnspecifiedMatching +OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:18644 semapv:UnspecifiedMatching +OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:KLHL8 semapv:UnspecifiedMatching +OMIM:611967 KLHL8 skos:exactMatch ncbigene:57563 semapv:UnspecifiedMatching +OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:17086 semapv:UnspecifiedMatching +OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:CSTF2T semapv:UnspecifiedMatching +OMIM:611968 CSTF2T skos:exactMatch ncbigene:23283 semapv:UnspecifiedMatching +OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:24904 semapv:UnspecifiedMatching +OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:MOB2 semapv:UnspecifiedMatching +OMIM:611969 MOB2 skos:exactMatch ncbigene:81532 semapv:UnspecifiedMatching +OMIM:611970 NIFK skos:exactMatch hgnc.symbol:17838 semapv:UnspecifiedMatching +OMIM:611970 NIFK skos:exactMatch hgnc.symbol:NIFK semapv:UnspecifiedMatching +OMIM:611970 NIFK skos:exactMatch ncbigene:84365 semapv:UnspecifiedMatching +OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:14495 semapv:UnspecifiedMatching +OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:MRPS2 semapv:UnspecifiedMatching +OMIM:611971 MRPS2 skos:exactMatch ncbigene:51116 semapv:UnspecifiedMatching +OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:14498 semapv:UnspecifiedMatching +OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:MRPS5 semapv:UnspecifiedMatching +OMIM:611972 MRPS5 skos:exactMatch ncbigene:64969 semapv:UnspecifiedMatching +OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:14051 semapv:UnspecifiedMatching +OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:MRPS6 semapv:UnspecifiedMatching +OMIM:611973 MRPS6 skos:exactMatch ncbigene:64968 semapv:UnspecifiedMatching +OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:14499 semapv:UnspecifiedMatching +OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:MRPS7 semapv:UnspecifiedMatching +OMIM:611974 MRPS7 skos:exactMatch ncbigene:51081 semapv:UnspecifiedMatching +OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:14501 semapv:UnspecifiedMatching +OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:MRPS9 semapv:UnspecifiedMatching +OMIM:611975 MRPS9 skos:exactMatch ncbigene:64965 semapv:UnspecifiedMatching +OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:14502 semapv:UnspecifiedMatching +OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:MRPS10 semapv:UnspecifiedMatching +OMIM:611976 MRPS10 skos:exactMatch ncbigene:55173 semapv:UnspecifiedMatching +OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:14050 semapv:UnspecifiedMatching +OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:MRPS11 semapv:UnspecifiedMatching +OMIM:611977 MRPS11 skos:exactMatch ncbigene:64963 semapv:UnspecifiedMatching +OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:14049 semapv:UnspecifiedMatching +OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:MRPS14 semapv:UnspecifiedMatching +OMIM:611978 MRPS14 skos:exactMatch ncbigene:63931 semapv:UnspecifiedMatching +OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:14504 semapv:UnspecifiedMatching +OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:MRPS15 semapv:UnspecifiedMatching +OMIM:611979 MRPS15 skos:exactMatch ncbigene:64960 semapv:UnspecifiedMatching +OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:14047 semapv:UnspecifiedMatching +OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:MRPS17 semapv:UnspecifiedMatching +OMIM:611980 MRPS17 skos:exactMatch ncbigene:51373 semapv:UnspecifiedMatching +OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:14515 semapv:UnspecifiedMatching +OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:MRPS18A semapv:UnspecifiedMatching +OMIM:611981 MRPS18A skos:exactMatch ncbigene:55168 semapv:UnspecifiedMatching +OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:14516 semapv:UnspecifiedMatching +OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:MRPS18B semapv:UnspecifiedMatching +OMIM:611982 MRPS18B skos:exactMatch ncbigene:28973 semapv:UnspecifiedMatching +OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:16633 semapv:UnspecifiedMatching +OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:MRPS18C semapv:UnspecifiedMatching +OMIM:611983 MRPS18C skos:exactMatch ncbigene:51023 semapv:UnspecifiedMatching +OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:14046 semapv:UnspecifiedMatching +OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:MRPS21 semapv:UnspecifiedMatching +OMIM:611984 MRPS21 skos:exactMatch ncbigene:54460 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch UMLS:C1422714 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:14509 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:MRPS23 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch ncbigene:51649 semapv:UnspecifiedMatching +OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:14510 semapv:UnspecifiedMatching +OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:MRPS24 semapv:UnspecifiedMatching +OMIM:611986 MRPS24 skos:exactMatch ncbigene:64951 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch UMLS:C1422716 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:14511 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:MRPS25 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch ncbigene:64432 semapv:UnspecifiedMatching +OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:14045 semapv:UnspecifiedMatching +OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:MRPS26 semapv:UnspecifiedMatching +OMIM:611988 MRPS26 skos:exactMatch ncbigene:64949 semapv:UnspecifiedMatching +OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:14512 semapv:UnspecifiedMatching +OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:MRPS27 semapv:UnspecifiedMatching +OMIM:611989 MRPS27 skos:exactMatch ncbigene:23107 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch UMLS:C1422718 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:14513 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:MRPS28 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch ncbigene:28957 semapv:UnspecifiedMatching +OMIM:611991 MRPS30 skos:exactMatch hgnc.symbol:8769 semapv:UnspecifiedMatching +OMIM:611991 MRPS30 skos:exactMatch hgnc.symbol:MRPS30 semapv:UnspecifiedMatching +OMIM:611991 MRPS30 skos:exactMatch ncbigene:10884 semapv:UnspecifiedMatching +OMIM:611992 MRPS31 skos:exactMatch hgnc.symbol:16632 semapv:UnspecifiedMatching +OMIM:611992 MRPS31 skos:exactMatch hgnc.symbol:MRPS31 semapv:UnspecifiedMatching +OMIM:611992 MRPS31 skos:exactMatch ncbigene:10240 semapv:UnspecifiedMatching +OMIM:611993 MRPS33 skos:exactMatch hgnc.symbol:16634 semapv:UnspecifiedMatching +OMIM:611993 MRPS33 skos:exactMatch hgnc.symbol:MRPS33 semapv:UnspecifiedMatching +OMIM:611993 MRPS33 skos:exactMatch ncbigene:51650 semapv:UnspecifiedMatching +OMIM:611994 MRPS34 skos:exactMatch hgnc.symbol:16618 semapv:UnspecifiedMatching +OMIM:611994 MRPS34 skos:exactMatch hgnc.symbol:MRPS34 semapv:UnspecifiedMatching +OMIM:611994 MRPS34 skos:exactMatch ncbigene:65993 semapv:UnspecifiedMatching +OMIM:611995 MRPS35 skos:exactMatch hgnc.symbol:16635 semapv:UnspecifiedMatching +OMIM:611995 MRPS35 skos:exactMatch hgnc.symbol:MRPS35 semapv:UnspecifiedMatching +OMIM:611995 MRPS35 skos:exactMatch ncbigene:60488 semapv:UnspecifiedMatching +OMIM:611996 MRPS36 skos:exactMatch hgnc.symbol:KGD4 semapv:UnspecifiedMatching +OMIM:611996 MRPS36 skos:exactMatch ncbigene:92259 semapv:UnspecifiedMatching +OMIM:611997 MRP63 skos:exactMatch hgnc.symbol:14514 semapv:UnspecifiedMatching +OMIM:611997 MRP63 skos:exactMatch hgnc.symbol:MRPL57 semapv:UnspecifiedMatching +OMIM:611997 MRP63 skos:exactMatch ncbigene:78988 semapv:UnspecifiedMatching +OMIM:611998 CREB3L3 skos:exactMatch hgnc.symbol:18855 semapv:UnspecifiedMatching +OMIM:611998 CREB3L3 skos:exactMatch hgnc.symbol:CREB3L3 semapv:UnspecifiedMatching +OMIM:611998 CREB3L3 skos:exactMatch ncbigene:84699 semapv:UnspecifiedMatching +OMIM:611999 RAB11FIP4 skos:exactMatch hgnc.symbol:30267 semapv:UnspecifiedMatching +OMIM:611999 RAB11FIP4 skos:exactMatch hgnc.symbol:RAB11FIP4 semapv:UnspecifiedMatching +OMIM:611999 RAB11FIP4 skos:exactMatch ncbigene:84440 semapv:UnspecifiedMatching +OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:29005 semapv:UnspecifiedMatching +OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:TRIM66 semapv:UnspecifiedMatching +OMIM:612000 TRIM66 skos:exactMatch ncbigene:9866 semapv:UnspecifiedMatching +OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch MONDO:0012774 semapv:UnspecifiedMatching +OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch Orphanet:199318 semapv:UnspecifiedMatching +OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch UMLS:C2677613 semapv:UnspecifiedMatching +OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:22949 semapv:UnspecifiedMatching +OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:DEPDC1 semapv:UnspecifiedMatching +OMIM:612002 DEPDC1 skos:exactMatch ncbigene:55635 semapv:UnspecifiedMatching +OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:11960 semapv:UnspecifiedMatching +OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:GIGYF2 semapv:UnspecifiedMatching +OMIM:612003 GIGYF2 skos:exactMatch ncbigene:26058 semapv:UnspecifiedMatching +OMIM:612004 thrombocytopenia 4 skos:exactMatch MONDO:0012775 semapv:UnspecifiedMatching +OMIM:612005 celiac disease, susceptibility to, 7 skos:exactMatch MONDO:0012776 semapv:UnspecifiedMatching +OMIM:612006 celiac disease, susceptibility to, 8 skos:exactMatch MONDO:0012777 semapv:UnspecifiedMatching +OMIM:612007 celiac disease, susceptibility to, 9 skos:exactMatch MONDO:0012778 semapv:UnspecifiedMatching +OMIM:612008 celiac disease, susceptibility to, 10 skos:exactMatch MONDO:0012779 semapv:UnspecifiedMatching +OMIM:612009 celiac disease, susceptibility to, 11 skos:exactMatch MONDO:0012780 semapv:UnspecifiedMatching +OMIM:612010 celiac disease, susceptibility to, 12 skos:exactMatch MONDO:0012781 semapv:UnspecifiedMatching +OMIM:612011 celiac disease, susceptibility to, 13 skos:exactMatch MONDO:0012782 semapv:UnspecifiedMatching +OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:20761 semapv:UnspecifiedMatching +OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:ZFYVE26 semapv:UnspecifiedMatching +OMIM:612012 ZFYVE26 skos:exactMatch ncbigene:23503 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch UMLS:C2240338 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676790 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch UMLS:C3280898 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch hgnc.symbol:29253 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch hgnc.symbol:CC2D2A semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch ncbigene:57545 semapv:UnspecifiedMatching +OMIM:612014 TTC21B skos:exactMatch hgnc.symbol:25660 semapv:UnspecifiedMatching +OMIM:612014 TTC21B skos:exactMatch hgnc.symbol:TTC21B semapv:UnspecifiedMatching +OMIM:612014 TTC21B skos:exactMatch ncbigene:79809 semapv:UnspecifiedMatching +OMIM:612015 congenital disorder of glycosylation, iia in skos:exactMatch MONDO:0012783 semapv:UnspecifiedMatching +OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch MONDO:0012784 semapv:UnspecifiedMatching +OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching +OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching +OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch MONDO:0012785 semapv:UnspecifiedMatching +OMIM:612018 cataract 47 skos:exactMatch MONDO:0012786 semapv:UnspecifiedMatching +OMIM:612019 ISX skos:exactMatch hgnc.symbol:28084 semapv:UnspecifiedMatching +OMIM:612019 ISX skos:exactMatch hgnc.symbol:ISX semapv:UnspecifiedMatching +OMIM:612019 ISX skos:exactMatch ncbigene:91464 semapv:UnspecifiedMatching +OMIM:612020 spastic paraplegia 39, autosomal recessive skos:exactMatch MONDO:0012787 semapv:UnspecifiedMatching +OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:24281 semapv:UnspecifiedMatching +OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:OTUD6B semapv:UnspecifiedMatching +OMIM:612021 OTUD6B skos:exactMatch ncbigene:51633 semapv:UnspecifiedMatching +OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:27346 semapv:UnspecifiedMatching +OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:OTUD1 semapv:UnspecifiedMatching +OMIM:612022 OTUD1 skos:exactMatch ncbigene:220213 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch UMLS:C1823894 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:25035 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:YOD1 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch ncbigene:55432 semapv:UnspecifiedMatching +OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:20718 semapv:UnspecifiedMatching +OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:OTUD7A semapv:UnspecifiedMatching +OMIM:612024 OTUD7A skos:exactMatch ncbigene:161725 semapv:UnspecifiedMatching +OMIM:612025 IYD skos:exactMatch hgnc.symbol:21071 semapv:UnspecifiedMatching +OMIM:612025 IYD skos:exactMatch hgnc.symbol:IYD semapv:UnspecifiedMatching +OMIM:612025 IYD skos:exactMatch ncbigene:389434 semapv:UnspecifiedMatching +OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:24912 semapv:UnspecifiedMatching +OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:LARP7 semapv:UnspecifiedMatching +OMIM:612026 LARP7 skos:exactMatch ncbigene:51574 semapv:UnspecifiedMatching +OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:18707 semapv:UnspecifiedMatching +OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:TAMALIN semapv:UnspecifiedMatching +OMIM:612027 TAMALIN skos:exactMatch ncbigene:160622 semapv:UnspecifiedMatching +OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:33714 semapv:UnspecifiedMatching +OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:FITM1 semapv:UnspecifiedMatching +OMIM:612028 FITM1 skos:exactMatch ncbigene:161247 semapv:UnspecifiedMatching +OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:16135 semapv:UnspecifiedMatching +OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:FITM2 semapv:UnspecifiedMatching +OMIM:612029 FITM2 skos:exactMatch ncbigene:128486 semapv:UnspecifiedMatching +OMIM:612030 coronary heart disease, susceptibility to, 9 skos:exactMatch MONDO:0012788 semapv:UnspecifiedMatching +OMIM:612031 INHBE skos:exactMatch hgnc.symbol:24029 semapv:UnspecifiedMatching +OMIM:612031 INHBE skos:exactMatch hgnc.symbol:INHBE semapv:UnspecifiedMatching +OMIM:612031 INHBE skos:exactMatch ncbigene:83729 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch UMLS:C2239360 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:24590 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:DPY30 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch ncbigene:84661 semapv:UnspecifiedMatching +OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:28707 semapv:UnspecifiedMatching +OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:PAGR1 semapv:UnspecifiedMatching +OMIM:612033 PAGR1 skos:exactMatch ncbigene:79447 semapv:UnspecifiedMatching +OMIM:612034 APC2 skos:exactMatch hgnc.symbol:24036 semapv:UnspecifiedMatching +OMIM:612034 APC2 skos:exactMatch hgnc.symbol:APC2 semapv:UnspecifiedMatching +OMIM:612034 APC2 skos:exactMatch ncbigene:10297 semapv:UnspecifiedMatching +OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:21022 semapv:UnspecifiedMatching +OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:AARS2 semapv:UnspecifiedMatching +OMIM:612035 AARS2 skos:exactMatch ncbigene:57505 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch UMLS:C1826544 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:30563 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:PARS2 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch ncbigene:25973 semapv:UnspecifiedMatching +OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:25762 semapv:UnspecifiedMatching +OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:MUL1 semapv:UnspecifiedMatching +OMIM:612037 MUL1 skos:exactMatch ncbigene:79594 semapv:UnspecifiedMatching +OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:22301 semapv:UnspecifiedMatching +OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:TMED4 semapv:UnspecifiedMatching +OMIM:612038 TMED4 skos:exactMatch ncbigene:222068 semapv:UnspecifiedMatching +OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:30059 semapv:UnspecifiedMatching +OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:LPCAT4 semapv:UnspecifiedMatching +OMIM:612039 AGPAT7 skos:exactMatch ncbigene:254531 semapv:UnspecifiedMatching +OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:26032 semapv:UnspecifiedMatching +OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:LPCAT2 semapv:UnspecifiedMatching +OMIM:612040 LPCAT2 skos:exactMatch ncbigene:54947 semapv:UnspecifiedMatching +OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:27729 semapv:UnspecifiedMatching +OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:RNF212 semapv:UnspecifiedMatching +OMIM:612041 RNF212 skos:exactMatch ncbigene:285498 semapv:UnspecifiedMatching +OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:31785 semapv:UnspecifiedMatching +OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:MIR371A semapv:UnspecifiedMatching +OMIM:612043 MIR371A skos:exactMatch ncbigene:442916 semapv:UnspecifiedMatching +OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:31786 semapv:UnspecifiedMatching +OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:MIR372 semapv:UnspecifiedMatching +OMIM:612044 MIRN372 skos:exactMatch ncbigene:442917 semapv:UnspecifiedMatching +OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:14326 semapv:UnspecifiedMatching +OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:C1QTNF3 semapv:UnspecifiedMatching +OMIM:612045 C1QTNF3 skos:exactMatch ncbigene:114899 semapv:UnspecifiedMatching +OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:23820 semapv:UnspecifiedMatching +OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:E2F7 semapv:UnspecifiedMatching +OMIM:612046 E2F7 skos:exactMatch ncbigene:144455 semapv:UnspecifiedMatching +OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:24727 semapv:UnspecifiedMatching +OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:E2F8 semapv:UnspecifiedMatching +OMIM:612047 E2F8 skos:exactMatch ncbigene:79733 semapv:UnspecifiedMatching +OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:28472 semapv:UnspecifiedMatching +OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:TMEM43 semapv:UnspecifiedMatching +OMIM:612048 TMEM43 skos:exactMatch ncbigene:79188 semapv:UnspecifiedMatching +OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:19441 semapv:UnspecifiedMatching +OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:RIOX2 semapv:UnspecifiedMatching +OMIM:612049 RIOX2 skos:exactMatch ncbigene:84864 semapv:UnspecifiedMatching +OMIM:612050 NDFIP1 skos:exactMatch hgnc.symbol:17592 semapv:UnspecifiedMatching +OMIM:612050 NDFIP1 skos:exactMatch hgnc.symbol:NDFIP1 semapv:UnspecifiedMatching +OMIM:612050 NDFIP1 skos:exactMatch ncbigene:80762 semapv:UnspecifiedMatching +OMIM:612051 BEAN1 skos:exactMatch hgnc.symbol:24160 semapv:UnspecifiedMatching +OMIM:612051 BEAN1 skos:exactMatch hgnc.symbol:BEAN1 semapv:UnspecifiedMatching +OMIM:612051 BEAN1 skos:exactMatch ncbigene:146227 semapv:UnspecifiedMatching +OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:1108 semapv:UnspecifiedMatching +OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:ZFP36L2 semapv:UnspecifiedMatching +OMIM:612053 ZFP36L2 skos:exactMatch ncbigene:678 semapv:UnspecifiedMatching +OMIM:612054 CNOT9 skos:exactMatch UMLS:C1419755 semapv:UnspecifiedMatching +OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:10445 semapv:UnspecifiedMatching +OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:CNOT9 semapv:UnspecifiedMatching +OMIM:612054 CNOT9 skos:exactMatch ncbigene:9125 semapv:UnspecifiedMatching +OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:18476 semapv:UnspecifiedMatching +OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:RPS27L semapv:UnspecifiedMatching +OMIM:612055 RPS27L skos:exactMatch ncbigene:51065 semapv:UnspecifiedMatching +OMIM:612056 GET4 skos:exactMatch hgnc.symbol:21690 semapv:UnspecifiedMatching +OMIM:612056 GET4 skos:exactMatch hgnc.symbol:GET4 semapv:UnspecifiedMatching +OMIM:612056 GET4 skos:exactMatch ncbigene:51608 semapv:UnspecifiedMatching +OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:28055 semapv:UnspecifiedMatching +OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:SAPCD2 semapv:UnspecifiedMatching +OMIM:612057 SAPCD2 skos:exactMatch ncbigene:89958 semapv:UnspecifiedMatching +OMIM:612058 SAMM50 skos:exactMatch UMLS:C1826973 semapv:UnspecifiedMatching +OMIM:612058 SAMM50 skos:exactMatch hgnc.symbol:24276 semapv:UnspecifiedMatching +OMIM:612058 SAMM50 skos:exactMatch hgnc.symbol:SAMM50 semapv:UnspecifiedMatching +OMIM:612058 SAMM50 skos:exactMatch ncbigene:25813 semapv:UnspecifiedMatching +OMIM:612059 LARP1 skos:exactMatch hgnc.symbol:29531 semapv:UnspecifiedMatching +OMIM:612059 LARP1 skos:exactMatch hgnc.symbol:LARP1 semapv:UnspecifiedMatching +OMIM:612059 LARP1 skos:exactMatch ncbigene:23367 semapv:UnspecifiedMatching +OMIM:612060 ZNRF1 skos:exactMatch hgnc.symbol:18452 semapv:UnspecifiedMatching +OMIM:612060 ZNRF1 skos:exactMatch hgnc.symbol:ZNRF1 semapv:UnspecifiedMatching +OMIM:612060 ZNRF1 skos:exactMatch ncbigene:84937 semapv:UnspecifiedMatching +OMIM:612061 ZNRF2 skos:exactMatch hgnc.symbol:22316 semapv:UnspecifiedMatching +OMIM:612061 ZNRF2 skos:exactMatch hgnc.symbol:ZNRF2 semapv:UnspecifiedMatching +OMIM:612061 ZNRF2 skos:exactMatch ncbigene:223082 semapv:UnspecifiedMatching +OMIM:612062 ZNRF3 skos:exactMatch hgnc.symbol:18126 semapv:UnspecifiedMatching +OMIM:612062 ZNRF3 skos:exactMatch hgnc.symbol:ZNRF3 semapv:UnspecifiedMatching +OMIM:612062 ZNRF3 skos:exactMatch ncbigene:84133 semapv:UnspecifiedMatching +OMIM:612063 ZNRF4 skos:exactMatch hgnc.symbol:17726 semapv:UnspecifiedMatching +OMIM:612063 ZNRF4 skos:exactMatch hgnc.symbol:ZNRF4 semapv:UnspecifiedMatching +OMIM:612063 ZNRF4 skos:exactMatch ncbigene:148066 semapv:UnspecifiedMatching +OMIM:612064 GIGYF1 skos:exactMatch hgnc.symbol:9126 semapv:UnspecifiedMatching +OMIM:612064 GIGYF1 skos:exactMatch hgnc.symbol:GIGYF1 semapv:UnspecifiedMatching +OMIM:612064 GIGYF1 skos:exactMatch ncbigene:64599 semapv:UnspecifiedMatching +OMIM:612065 PARP9 skos:exactMatch hgnc.symbol:24118 semapv:UnspecifiedMatching +OMIM:612065 PARP9 skos:exactMatch hgnc.symbol:PARP9 semapv:UnspecifiedMatching +OMIM:612065 PARP9 skos:exactMatch ncbigene:83666 semapv:UnspecifiedMatching +OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:26876 semapv:UnspecifiedMatching +OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:PARP15 semapv:UnspecifiedMatching +OMIM:612066 PARP15 skos:exactMatch ncbigene:165631 semapv:UnspecifiedMatching +OMIM:612067 dystonia 16 skos:exactMatch MONDO:0012789 semapv:UnspecifiedMatching +OMIM:612068 PIRT skos:exactMatch hgnc.symbol:37239 semapv:UnspecifiedMatching +OMIM:612068 PIRT skos:exactMatch hgnc.symbol:PIRT semapv:UnspecifiedMatching +OMIM:612068 PIRT skos:exactMatch ncbigene:644139 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch MONDO:0012790 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch UMLS:C2677565 semapv:UnspecifiedMatching +OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:31531 semapv:UnspecifiedMatching +OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:MIR144 semapv:UnspecifiedMatching +OMIM:612070 MIRN144 skos:exactMatch ncbigene:406936 semapv:UnspecifiedMatching +OMIM:612071 MIRN451 skos:exactMatch hgnc.symbol:32053 semapv:UnspecifiedMatching +OMIM:612071 MIRN451 skos:exactMatch hgnc.symbol:MIR451A semapv:UnspecifiedMatching +OMIM:612071 MIRN451 skos:exactMatch ncbigene:574411 semapv:UnspecifiedMatching +OMIM:612072 MIF4GD skos:exactMatch hgnc.symbol:24030 semapv:UnspecifiedMatching +OMIM:612072 MIF4GD skos:exactMatch hgnc.symbol:MIF4GD semapv:UnspecifiedMatching +OMIM:612072 MIF4GD skos:exactMatch ncbigene:57409 semapv:UnspecifiedMatching +OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) skos:exactMatch MONDO:0012791 semapv:UnspecifiedMatching +OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:21863 semapv:UnspecifiedMatching +OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:RBM28 semapv:UnspecifiedMatching +OMIM:612074 RBM28 skos:exactMatch ncbigene:55131 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch MONDO:0012792 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:255235 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching +OMIM:612076 hypouricemia, renal, 2 skos:exactMatch MONDO:0012793 semapv:UnspecifiedMatching +OMIM:612076 hypouricemia, renal, 2 skos:exactMatch Orphanet:94088 semapv:UnspecifiedMatching +OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677549 semapv:UnspecifiedMatching +OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching +OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677551 semapv:UnspecifiedMatching +OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:31599 semapv:UnspecifiedMatching +OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:MIR22 semapv:UnspecifiedMatching +OMIM:612077 MIR22 skos:exactMatch ncbigene:407004 semapv:UnspecifiedMatching +OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:23216 semapv:UnspecifiedMatching +OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:ZNF469 semapv:UnspecifiedMatching +OMIM:612078 ZNF469 skos:exactMatch ncbigene:84627 semapv:UnspecifiedMatching +OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome skos:exactMatch MONDO:0012794 semapv:UnspecifiedMatching +OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:29594 semapv:UnspecifiedMatching +OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:UQCRQ semapv:UnspecifiedMatching +OMIM:612080 UQCRQ skos:exactMatch ncbigene:27089 semapv:UnspecifiedMatching +OMIM:612081 IL34 skos:exactMatch hgnc.symbol:28529 semapv:UnspecifiedMatching +OMIM:612081 IL34 skos:exactMatch hgnc.symbol:IL34 semapv:UnspecifiedMatching +OMIM:612081 IL34 skos:exactMatch ncbigene:146433 semapv:UnspecifiedMatching +OMIM:612082 CIC skos:exactMatch hgnc.symbol:14214 semapv:UnspecifiedMatching +OMIM:612082 CIC skos:exactMatch hgnc.symbol:CIC semapv:UnspecifiedMatching +OMIM:612082 CIC skos:exactMatch ncbigene:23152 semapv:UnspecifiedMatching +OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:29955 semapv:UnspecifiedMatching +OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:SLC51A semapv:UnspecifiedMatching +OMIM:612084 SLC51A skos:exactMatch ncbigene:200931 semapv:UnspecifiedMatching +OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:29956 semapv:UnspecifiedMatching +OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:SLC51B semapv:UnspecifiedMatching +OMIM:612085 SLC51B skos:exactMatch ncbigene:123264 semapv:UnspecifiedMatching +OMIM:612086 HMSD skos:exactMatch hgnc.symbol:23037 semapv:UnspecifiedMatching +OMIM:612086 HMSD skos:exactMatch hgnc.symbol:HMSD semapv:UnspecifiedMatching +OMIM:612086 HMSD skos:exactMatch ncbigene:284293 semapv:UnspecifiedMatching +OMIM:612087 CLEC2A skos:exactMatch UMLS:C1539087 semapv:UnspecifiedMatching +OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:24191 semapv:UnspecifiedMatching +OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:CLEC2A semapv:UnspecifiedMatching +OMIM:612087 CLEC2A skos:exactMatch ncbigene:387836 semapv:UnspecifiedMatching +OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:31713 semapv:UnspecifiedMatching +OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:CLEC12A semapv:UnspecifiedMatching +OMIM:612088 CLEC12A skos:exactMatch ncbigene:160364 semapv:UnspecifiedMatching +OMIM:612089 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch MONDO:0012795 semapv:UnspecifiedMatching +OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:31578 semapv:UnspecifiedMatching +OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:MIR200A semapv:UnspecifiedMatching +OMIM:612090 MIR200A skos:exactMatch ncbigene:406983 semapv:UnspecifiedMatching +OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:31579 semapv:UnspecifiedMatching +OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:MIR200B semapv:UnspecifiedMatching +OMIM:612091 MIRN200B skos:exactMatch ncbigene:406984 semapv:UnspecifiedMatching +OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:31580 semapv:UnspecifiedMatching +OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:MIR200C semapv:UnspecifiedMatching +OMIM:612092 MIR200C skos:exactMatch ncbigene:406985 semapv:UnspecifiedMatching +OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:31528 semapv:UnspecifiedMatching +OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:MIR141 semapv:UnspecifiedMatching +OMIM:612093 MIR141 skos:exactMatch ncbigene:406933 semapv:UnspecifiedMatching +OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:13784 semapv:UnspecifiedMatching +OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:MIR429 semapv:UnspecifiedMatching +OMIM:612094 MIRN429 skos:exactMatch ncbigene:554210 semapv:UnspecifiedMatching +OMIM:612095 retinitis pigmentosa 41 skos:exactMatch MONDO:0012796 semapv:UnspecifiedMatching +OMIM:612096 otosclerosis 8 skos:exactMatch MONDO:0012797 semapv:UnspecifiedMatching +OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch MONDO:0012798 semapv:UnspecifiedMatching +OMIM:612098 cardiomyopathy, familial hypertrophic, 11 skos:exactMatch MONDO:0012799 semapv:UnspecifiedMatching +OMIM:612099 trichoepithelioma, multiple familial, 2 skos:exactMatch MONDO:0012800 semapv:UnspecifiedMatching +OMIM:612100 autism, susceptibility to, 15 skos:exactMatch MONDO:0012801 semapv:UnspecifiedMatching +OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:18215 semapv:UnspecifiedMatching +OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:PI4K2B semapv:UnspecifiedMatching +OMIM:612101 PI4K2B skos:exactMatch ncbigene:55300 semapv:UnspecifiedMatching +OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:31485 semapv:UnspecifiedMatching +OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:MIRLET7G semapv:UnspecifiedMatching +OMIM:612102 MIRNLET7G skos:exactMatch ncbigene:406890 semapv:UnspecifiedMatching +OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:26232 semapv:UnspecifiedMatching +OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:NABP1 semapv:UnspecifiedMatching +OMIM:612103 OBFC2A skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching +OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:28412 semapv:UnspecifiedMatching +OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:NABP2 semapv:UnspecifiedMatching +OMIM:612104 OBFC2B skos:exactMatch ncbigene:79035 semapv:UnspecifiedMatching +OMIM:612105 KLLN skos:exactMatch hgnc.symbol:37212 semapv:UnspecifiedMatching +OMIM:612105 KLLN skos:exactMatch hgnc.symbol:KLLN semapv:UnspecifiedMatching +OMIM:612105 KLLN skos:exactMatch ncbigene:100144748 semapv:UnspecifiedMatching +OMIM:612106 ZBTB40 skos:exactMatch hgnc.symbol:29045 semapv:UnspecifiedMatching +OMIM:612106 ZBTB40 skos:exactMatch hgnc.symbol:ZBTB40 semapv:UnspecifiedMatching +OMIM:612106 ZBTB40 skos:exactMatch ncbigene:9923 semapv:UnspecifiedMatching +OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:16192 semapv:UnspecifiedMatching +OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:SLC17A9 semapv:UnspecifiedMatching +OMIM:612107 SLC17A9 skos:exactMatch ncbigene:63910 semapv:UnspecifiedMatching +OMIM:612109 oculoauricular syndrome skos:exactMatch MONDO:0012802 semapv:UnspecifiedMatching +OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:17260 semapv:UnspecifiedMatching +OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:TNFAIP8 semapv:UnspecifiedMatching +OMIM:612111 TNFAIP8 skos:exactMatch ncbigene:25816 semapv:UnspecifiedMatching +OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:26277 semapv:UnspecifiedMatching +OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:TNFAIP8L2 semapv:UnspecifiedMatching +OMIM:612112 TNFAIP8L2 skos:exactMatch ncbigene:79626 semapv:UnspecifiedMatching +OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:683 semapv:UnspecifiedMatching +OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:ARHGEF3 semapv:UnspecifiedMatching +OMIM:612115 ARHGEF3 skos:exactMatch ncbigene:50650 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch UMLS:C1421400 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch hgnc.symbol:12621 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch hgnc.symbol:USP22 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch ncbigene:23326 semapv:UnspecifiedMatching +OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:31530 semapv:UnspecifiedMatching +OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:MIR143 semapv:UnspecifiedMatching +OMIM:612117 MIR143 skos:exactMatch ncbigene:406935 semapv:UnspecifiedMatching +OMIM:612118 IQSEC3 skos:exactMatch hgnc.symbol:29193 semapv:UnspecifiedMatching +OMIM:612118 IQSEC3 skos:exactMatch hgnc.symbol:IQSEC3 semapv:UnspecifiedMatching +OMIM:612118 IQSEC3 skos:exactMatch ncbigene:440073 semapv:UnspecifiedMatching +OMIM:612119 trehalase deficiency skos:exactMatch MONDO:0012803 semapv:UnspecifiedMatching +OMIM:612120 CIDEC skos:exactMatch hgnc.symbol:24229 semapv:UnspecifiedMatching +OMIM:612120 CIDEC skos:exactMatch hgnc.symbol:CIDEC semapv:UnspecifiedMatching +OMIM:612120 CIDEC skos:exactMatch ncbigene:63924 semapv:UnspecifiedMatching +OMIM:612121 PNPLA1 skos:exactMatch hgnc.symbol:21246 semapv:UnspecifiedMatching +OMIM:612121 PNPLA1 skos:exactMatch hgnc.symbol:PNPLA1 semapv:UnspecifiedMatching +OMIM:612121 PNPLA1 skos:exactMatch ncbigene:285848 semapv:UnspecifiedMatching +OMIM:612122 PNPLA7 skos:exactMatch hgnc.symbol:24768 semapv:UnspecifiedMatching +OMIM:612122 PNPLA7 skos:exactMatch hgnc.symbol:PNPLA7 semapv:UnspecifiedMatching +OMIM:612122 PNPLA7 skos:exactMatch ncbigene:375775 semapv:UnspecifiedMatching +OMIM:612123 PNPLA8 skos:exactMatch hgnc.symbol:28900 semapv:UnspecifiedMatching +OMIM:612123 PNPLA8 skos:exactMatch hgnc.symbol:PNPLA8 semapv:UnspecifiedMatching +OMIM:612123 PNPLA8 skos:exactMatch ncbigene:50640 semapv:UnspecifiedMatching +OMIM:612124 cardiomyopathy, familial hypertrophic, 12 skos:exactMatch MONDO:0012804 semapv:UnspecifiedMatching +OMIM:612125 SERTAD3 skos:exactMatch hgnc.symbol:17931 semapv:UnspecifiedMatching +OMIM:612125 SERTAD3 skos:exactMatch hgnc.symbol:SERTAD3 semapv:UnspecifiedMatching +OMIM:612125 SERTAD3 skos:exactMatch ncbigene:29946 semapv:UnspecifiedMatching +OMIM:612126 glut1 deficiency syndrome 2 skos:exactMatch MONDO:0012805 semapv:UnspecifiedMatching +OMIM:612127 HSD17B13 skos:exactMatch hgnc.symbol:18685 semapv:UnspecifiedMatching +OMIM:612127 HSD17B13 skos:exactMatch hgnc.symbol:HSD17B13 semapv:UnspecifiedMatching +OMIM:612127 HSD17B13 skos:exactMatch ncbigene:345275 semapv:UnspecifiedMatching +OMIM:612128 RASL10B skos:exactMatch hgnc.symbol:30295 semapv:UnspecifiedMatching +OMIM:612128 RASL10B skos:exactMatch hgnc.symbol:RASL10B semapv:UnspecifiedMatching +OMIM:612128 RASL10B skos:exactMatch ncbigene:91608 semapv:UnspecifiedMatching +OMIM:612129 IDO2 skos:exactMatch hgnc.symbol:27269 semapv:UnspecifiedMatching +OMIM:612129 IDO2 skos:exactMatch hgnc.symbol:IDO2 semapv:UnspecifiedMatching +OMIM:612129 IDO2 skos:exactMatch ncbigene:169355 semapv:UnspecifiedMatching +OMIM:612130 GAEC1 skos:exactMatch ncbigene:100126794 semapv:UnspecifiedMatching +OMIM:612131 DHRS9 skos:exactMatch hgnc.symbol:16888 semapv:UnspecifiedMatching +OMIM:612131 DHRS9 skos:exactMatch hgnc.symbol:DHRS9 semapv:UnspecifiedMatching +OMIM:612131 DHRS9 skos:exactMatch ncbigene:10170 semapv:UnspecifiedMatching +OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch MONDO:0012806 semapv:UnspecifiedMatching +OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching +OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching +OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching +OMIM:612133 NFE4 skos:exactMatch hgnc.symbol:29902 semapv:UnspecifiedMatching +OMIM:612133 NFE4 skos:exactMatch hgnc.symbol:NFE4 semapv:UnspecifiedMatching +OMIM:612133 NFE4 skos:exactMatch ncbigene:58160 semapv:UnspecifiedMatching +OMIM:612134 GLCE skos:exactMatch hgnc.symbol:17855 semapv:UnspecifiedMatching +OMIM:612134 GLCE skos:exactMatch hgnc.symbol:GLCE semapv:UnspecifiedMatching +OMIM:612134 GLCE skos:exactMatch ncbigene:26035 semapv:UnspecifiedMatching +OMIM:612135 CABYR skos:exactMatch hgnc.symbol:15569 semapv:UnspecifiedMatching +OMIM:612135 CABYR skos:exactMatch hgnc.symbol:CABYR semapv:UnspecifiedMatching +OMIM:612135 CABYR skos:exactMatch ncbigene:26256 semapv:UnspecifiedMatching +OMIM:612136 ECHDC1 skos:exactMatch hgnc.symbol:21489 semapv:UnspecifiedMatching +OMIM:612136 ECHDC1 skos:exactMatch hgnc.symbol:ECHDC1 semapv:UnspecifiedMatching +OMIM:612136 ECHDC1 skos:exactMatch ncbigene:55862 semapv:UnspecifiedMatching +OMIM:612137 RNF146 skos:exactMatch hgnc.symbol:21336 semapv:UnspecifiedMatching +OMIM:612137 RNF146 skos:exactMatch hgnc.symbol:RNF146 semapv:UnspecifiedMatching +OMIM:612137 RNF146 skos:exactMatch ncbigene:81847 semapv:UnspecifiedMatching +OMIM:612138 epidermolysis bullosa simplex 5c, with pyloric atresia skos:exactMatch MONDO:0012807 semapv:UnspecifiedMatching +OMIM:612139 PREX2 skos:exactMatch hgnc.symbol:22950 semapv:UnspecifiedMatching +OMIM:612139 PREX2 skos:exactMatch hgnc.symbol:PREX2 semapv:UnspecifiedMatching +OMIM:612139 PREX2 skos:exactMatch ncbigene:80243 semapv:UnspecifiedMatching +OMIM:612140 SEPT14 skos:exactMatch hgnc.symbol:33280 semapv:UnspecifiedMatching +OMIM:612140 SEPT14 skos:exactMatch hgnc.symbol:SEPTIN14 semapv:UnspecifiedMatching +OMIM:612140 SEPT14 skos:exactMatch ncbigene:346288 semapv:UnspecifiedMatching +OMIM:612141 EPB41L4A skos:exactMatch hgnc.symbol:13278 semapv:UnspecifiedMatching +OMIM:612141 EPB41L4A skos:exactMatch hgnc.symbol:EPB41L4A semapv:UnspecifiedMatching +OMIM:612141 EPB41L4A skos:exactMatch ncbigene:64097 semapv:UnspecifiedMatching +OMIM:612142 MIRLET7A2 skos:exactMatch hgnc.symbol:31477 semapv:UnspecifiedMatching +OMIM:612142 MIRLET7A2 skos:exactMatch hgnc.symbol:MIRLET7A2 semapv:UnspecifiedMatching +OMIM:612142 MIRLET7A2 skos:exactMatch ncbigene:406882 semapv:UnspecifiedMatching +OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc.symbol:31478 semapv:UnspecifiedMatching +OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc.symbol:MIRLET7A3 semapv:UnspecifiedMatching +OMIM:612143 MIRNLET7A3 skos:exactMatch ncbigene:406883 semapv:UnspecifiedMatching +OMIM:612144 MIRLET7C skos:exactMatch hgnc.symbol:31480 semapv:UnspecifiedMatching +OMIM:612144 MIRLET7C skos:exactMatch hgnc.symbol:MIRLET7C semapv:UnspecifiedMatching +OMIM:612144 MIRLET7C skos:exactMatch ncbigene:406885 semapv:UnspecifiedMatching +OMIM:612145 MIRNLET7D skos:exactMatch hgnc.symbol:31481 semapv:UnspecifiedMatching +OMIM:612145 MIRNLET7D skos:exactMatch hgnc.symbol:MIRLET7D semapv:UnspecifiedMatching +OMIM:612145 MIRNLET7D skos:exactMatch ncbigene:406886 semapv:UnspecifiedMatching +OMIM:612146 MIRLET7F1 skos:exactMatch hgnc.symbol:31483 semapv:UnspecifiedMatching +OMIM:612146 MIRLET7F1 skos:exactMatch hgnc.symbol:MIRLET7F1 semapv:UnspecifiedMatching +OMIM:612146 MIRLET7F1 skos:exactMatch ncbigene:406888 semapv:UnspecifiedMatching +OMIM:612147 MYLK3 skos:exactMatch hgnc.symbol:29826 semapv:UnspecifiedMatching +OMIM:612147 MYLK3 skos:exactMatch hgnc.symbol:MYLK3 semapv:UnspecifiedMatching +OMIM:612147 MYLK3 skos:exactMatch ncbigene:91807 semapv:UnspecifiedMatching +OMIM:612148 MIRNLET7I skos:exactMatch hgnc.symbol:31486 semapv:UnspecifiedMatching +OMIM:612148 MIRNLET7I skos:exactMatch hgnc.symbol:MIRLET7I semapv:UnspecifiedMatching +OMIM:612148 MIRNLET7I skos:exactMatch ncbigene:406891 semapv:UnspecifiedMatching +OMIM:612149 RBFOX2 skos:exactMatch hgnc.symbol:9906 semapv:UnspecifiedMatching +OMIM:612149 RBFOX2 skos:exactMatch hgnc.symbol:RBFOX2 semapv:UnspecifiedMatching +OMIM:612149 RBFOX2 skos:exactMatch ncbigene:23543 semapv:UnspecifiedMatching +OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:31609 semapv:UnspecifiedMatching +OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:MIR25 semapv:UnspecifiedMatching +OMIM:612150 MIR25 skos:exactMatch ncbigene:407014 semapv:UnspecifiedMatching +OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:31610 semapv:UnspecifiedMatching +OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:MIR26A1 semapv:UnspecifiedMatching +OMIM:612151 MIR26A1 skos:exactMatch ncbigene:407015 semapv:UnspecifiedMatching +OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:31612 semapv:UnspecifiedMatching +OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:MIR26B semapv:UnspecifiedMatching +OMIM:612152 MIR26B skos:exactMatch ncbigene:407017 semapv:UnspecifiedMatching +OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:31613 semapv:UnspecifiedMatching +OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:MIR27A semapv:UnspecifiedMatching +OMIM:612153 MIR27A skos:exactMatch ncbigene:407018 semapv:UnspecifiedMatching +OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:31615 semapv:UnspecifiedMatching +OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:MIR28 semapv:UnspecifiedMatching +OMIM:612154 MIR28 skos:exactMatch ncbigene:407020 semapv:UnspecifiedMatching +OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:31630 semapv:UnspecifiedMatching +OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:MIR31 semapv:UnspecifiedMatching +OMIM:612155 MIR31 skos:exactMatch ncbigene:407035 semapv:UnspecifiedMatching +OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:31634 semapv:UnspecifiedMatching +OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:MIR33A semapv:UnspecifiedMatching +OMIM:612156 MIR33A skos:exactMatch ncbigene:407039 semapv:UnspecifiedMatching +OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:17927 semapv:UnspecifiedMatching +OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:SENP1 semapv:UnspecifiedMatching +OMIM:612157 SENP1 skos:exactMatch ncbigene:29843 semapv:UnspecifiedMatching +OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction skos:exactMatch MONDO:0012808 semapv:UnspecifiedMatching +OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:17056 semapv:UnspecifiedMatching +OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:RPH3A semapv:UnspecifiedMatching +OMIM:612159 RPH3A skos:exactMatch ncbigene:22895 semapv:UnspecifiedMatching +OMIM:612160 histiocytoma, angiomatoid fibrous skos:exactMatch MONDO:0012809 semapv:UnspecifiedMatching +OMIM:612161 aneurysm, intracranial berry, 7 skos:exactMatch MONDO:0012810 semapv:UnspecifiedMatching +OMIM:612162 aneurysm, intracranial berry, 8 skos:exactMatch MONDO:0012811 semapv:UnspecifiedMatching +OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:20820 semapv:UnspecifiedMatching +OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:TPCN2 semapv:UnspecifiedMatching +OMIM:612163 TPCN2 skos:exactMatch ncbigene:219931 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch MONDO:0012812 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching +OMIM:612165 retinitis pigmentosa 29 skos:exactMatch MONDO:0012813 semapv:UnspecifiedMatching +OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:17127 semapv:UnspecifiedMatching +OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:SLC39A2 semapv:UnspecifiedMatching +OMIM:612166 SLC39A2 skos:exactMatch ncbigene:29986 semapv:UnspecifiedMatching +OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:30914 semapv:UnspecifiedMatching +OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:WDR48 semapv:UnspecifiedMatching +OMIM:612167 WDR48 skos:exactMatch ncbigene:57599 semapv:UnspecifiedMatching +OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:17128 semapv:UnspecifiedMatching +OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:SLC39A3 semapv:UnspecifiedMatching +OMIM:612168 SLC39A3 skos:exactMatch ncbigene:29985 semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch UMLS:C1521989 semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:15626 semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:FCGR2C semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch ncbigene:9103 semapv:UnspecifiedMatching +OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:14362 semapv:UnspecifiedMatching +OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:MUC19 semapv:UnspecifiedMatching +OMIM:612170 MUC19 skos:exactMatch ncbigene:283463 semapv:UnspecifiedMatching +OMIM:612171 RPRM skos:exactMatch hgnc.symbol:24201 semapv:UnspecifiedMatching +OMIM:612171 RPRM skos:exactMatch hgnc.symbol:RPRM semapv:UnspecifiedMatching +OMIM:612171 RPRM skos:exactMatch ncbigene:56475 semapv:UnspecifiedMatching +OMIM:612172 DDX23 skos:exactMatch UMLS:C1424920 semapv:UnspecifiedMatching +OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:17347 semapv:UnspecifiedMatching +OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:DDX23 semapv:UnspecifiedMatching +OMIM:612172 DDX23 skos:exactMatch ncbigene:9416 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch UMLS:C1539808 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:23225 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:SPAG16 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch ncbigene:79582 semapv:UnspecifiedMatching +OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:20292 semapv:UnspecifiedMatching +OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:CAB39 semapv:UnspecifiedMatching +OMIM:612174 CAB39 skos:exactMatch ncbigene:51719 semapv:UnspecifiedMatching +OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:20290 semapv:UnspecifiedMatching +OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:CAB39L semapv:UnspecifiedMatching +OMIM:612175 CAB39L skos:exactMatch ncbigene:81617 semapv:UnspecifiedMatching +OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:29401 semapv:UnspecifiedMatching +OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:MYSM1 semapv:UnspecifiedMatching +OMIM:612176 MYSM1 skos:exactMatch ncbigene:114803 semapv:UnspecifiedMatching +OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:10038 semapv:UnspecifiedMatching +OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:RN7SL1 semapv:UnspecifiedMatching +OMIM:612177 RN7SL1 skos:exactMatch ncbigene:6029 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch UMLS:C1823206 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:26400 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:HENMT1 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch ncbigene:113802 semapv:UnspecifiedMatching +OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:23134 semapv:UnspecifiedMatching +OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:RN7SL2 semapv:UnspecifiedMatching +OMIM:612179 RN7SL2 skos:exactMatch ncbigene:378706 semapv:UnspecifiedMatching +OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:23135 semapv:UnspecifiedMatching +OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:RN7SL3 semapv:UnspecifiedMatching +OMIM:612180 RN7SL3 skos:exactMatch ncbigene:378707 semapv:UnspecifiedMatching +OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:7511 semapv:UnspecifiedMatching +OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:MUC13 semapv:UnspecifiedMatching +OMIM:612181 MUC13 skos:exactMatch ncbigene:56667 semapv:UnspecifiedMatching +OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:7646 semapv:UnspecifiedMatching +OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:NAT2 semapv:UnspecifiedMatching +OMIM:612182 NAT2 skos:exactMatch ncbigene:10 semapv:UnspecifiedMatching +OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:32370 semapv:UnspecifiedMatching +OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:GPR176 semapv:UnspecifiedMatching +OMIM:612183 GPR176 skos:exactMatch ncbigene:11245 semapv:UnspecifiedMatching +OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:20879 semapv:UnspecifiedMatching +OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:CASKIN1 semapv:UnspecifiedMatching +OMIM:612184 CASKIN1 skos:exactMatch ncbigene:57524 semapv:UnspecifiedMatching +OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:18200 semapv:UnspecifiedMatching +OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:CASKIN2 semapv:UnspecifiedMatching +OMIM:612185 CASKIN2 skos:exactMatch ncbigene:57513 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C1414090 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C4015261 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C4539881 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:2938 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:DMXL2 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch ncbigene:23312 semapv:UnspecifiedMatching +OMIM:612187 SLC48A1 skos:exactMatch hgnc.symbol:26035 semapv:UnspecifiedMatching +OMIM:612187 SLC48A1 skos:exactMatch hgnc.symbol:SLC48A1 semapv:UnspecifiedMatching +OMIM:612187 SLC48A1 skos:exactMatch ncbigene:55652 semapv:UnspecifiedMatching +OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:20593 semapv:UnspecifiedMatching +OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:VPS39 semapv:UnspecifiedMatching +OMIM:612188 VPS39 skos:exactMatch ncbigene:23339 semapv:UnspecifiedMatching +OMIM:612189 PBLD skos:exactMatch hgnc.symbol:23301 semapv:UnspecifiedMatching +OMIM:612189 PBLD skos:exactMatch hgnc.symbol:PBLD semapv:UnspecifiedMatching +OMIM:612189 PBLD skos:exactMatch ncbigene:64081 semapv:UnspecifiedMatching +OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:24825 semapv:UnspecifiedMatching +OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:MLST8 semapv:UnspecifiedMatching +OMIM:612190 MLST8 skos:exactMatch ncbigene:64223 semapv:UnspecifiedMatching +OMIM:612191 MSMP skos:exactMatch hgnc.symbol:29663 semapv:UnspecifiedMatching +OMIM:612191 MSMP skos:exactMatch hgnc.symbol:MSMP semapv:UnspecifiedMatching +OMIM:612191 MSMP skos:exactMatch ncbigene:692094 semapv:UnspecifiedMatching +OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:18791 semapv:UnspecifiedMatching +OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:ZFP57 semapv:UnspecifiedMatching +OMIM:612192 ZFP57 skos:exactMatch ncbigene:346171 semapv:UnspecifiedMatching +OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:14305 semapv:UnspecifiedMatching +OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:CMYA5 semapv:UnspecifiedMatching +OMIM:612193 CMYA5 skos:exactMatch ncbigene:202333 semapv:UnspecifiedMatching +OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:16963 semapv:UnspecifiedMatching +OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:RRAGA semapv:UnspecifiedMatching +OMIM:612194 RRAGA skos:exactMatch ncbigene:10670 semapv:UnspecifiedMatching +OMIM:612195 ABHD1 skos:exactMatch UMLS:C1424994 semapv:UnspecifiedMatching +OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:17553 semapv:UnspecifiedMatching +OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:ABHD1 semapv:UnspecifiedMatching +OMIM:612195 ABHD1 skos:exactMatch ncbigene:84696 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch UMLS:C1425733 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:18717 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:ABHD2 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch ncbigene:11057 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch UMLS:C1425734 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:18718 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:ABHD3 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch ncbigene:171586 semapv:UnspecifiedMatching +OMIM:612198 diastasis recti and weakness of the linea alba skos:exactMatch MONDO:0012814 semapv:UnspecifiedMatching +OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch MONDO:0024564 semapv:UnspecifiedMatching +OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:28490 semapv:UnspecifiedMatching +OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:DIPK2A semapv:UnspecifiedMatching +OMIM:612200 DIPK2A skos:exactMatch ncbigene:205428 semapv:UnspecifiedMatching +OMIM:612201 atrial fibrillation, familial, 6 skos:exactMatch MONDO:0012816 semapv:UnspecifiedMatching +OMIM:612202 SOX7 skos:exactMatch UMLS:C1425372 semapv:UnspecifiedMatching +OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:18196 semapv:UnspecifiedMatching +OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:SOX7 semapv:UnspecifiedMatching +OMIM:612202 SOX7 skos:exactMatch ncbigene:83595 semapv:UnspecifiedMatching +OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:19968 semapv:UnspecifiedMatching +OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:NAP1L5 semapv:UnspecifiedMatching +OMIM:612203 NAP1L5 skos:exactMatch ncbigene:266812 semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch UMLS:C1825499 semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:22408 semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:ATG9A semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch ncbigene:79065 semapv:UnspecifiedMatching +OMIM:612205 ATG9B skos:exactMatch UMLS:C1825500 semapv:UnspecifiedMatching +OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:21899 semapv:UnspecifiedMatching +OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:ATG9B semapv:UnspecifiedMatching +OMIM:612205 ATG9B skos:exactMatch ncbigene:285973 semapv:UnspecifiedMatching +OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:17166 semapv:UnspecifiedMatching +OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:FJX1 semapv:UnspecifiedMatching +OMIM:612206 FJX1 skos:exactMatch ncbigene:24147 semapv:UnspecifiedMatching +OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:15452 semapv:UnspecifiedMatching +OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:GOLPH3 semapv:UnspecifiedMatching +OMIM:612207 GOLPH3 skos:exactMatch ncbigene:64083 semapv:UnspecifiedMatching +OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:24882 semapv:UnspecifiedMatching +OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:GOLPH3L semapv:UnspecifiedMatching +OMIM:612208 GOLPH3L skos:exactMatch ncbigene:55204 semapv:UnspecifiedMatching +OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:14907 semapv:UnspecifiedMatching +OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:MSGN1 semapv:UnspecifiedMatching +OMIM:612209 MSGN1 skos:exactMatch ncbigene:343930 semapv:UnspecifiedMatching +OMIM:612210 HULC skos:exactMatch hgnc.symbol:34232 semapv:UnspecifiedMatching +OMIM:612210 HULC skos:exactMatch hgnc.symbol:HULC semapv:UnspecifiedMatching +OMIM:612210 HULC skos:exactMatch ncbigene:728655 semapv:UnspecifiedMatching +OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:29592 semapv:UnspecifiedMatching +OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:TRARG1 semapv:UnspecifiedMatching +OMIM:612211 TUSC5 skos:exactMatch ncbigene:286753 semapv:UnspecifiedMatching +OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:9074 semapv:UnspecifiedMatching +OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:PLGLA semapv:UnspecifiedMatching +OMIM:612212 PLGLA skos:exactMatch ncbigene:285189 semapv:UnspecifiedMatching +OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:33906 semapv:UnspecifiedMatching +OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:BSPH1 semapv:UnspecifiedMatching +OMIM:612213 BSPH1 skos:exactMatch ncbigene:100131137 semapv:UnspecifiedMatching +OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:31911 semapv:UnspecifiedMatching +OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:RGL4 semapv:UnspecifiedMatching +OMIM:612214 RGL4 skos:exactMatch ncbigene:266747 semapv:UnspecifiedMatching +OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:32965 semapv:UnspecifiedMatching +OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:SNHG6 semapv:UnspecifiedMatching +OMIM:612215 SNHG6 skos:exactMatch ncbigene:641638 semapv:UnspecifiedMatching +OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:32746 semapv:UnspecifiedMatching +OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:SNORD87 semapv:UnspecifiedMatching +OMIM:612216 SNORD87 skos:exactMatch ncbigene:641648 semapv:UnspecifiedMatching +OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:21215 semapv:UnspecifiedMatching +OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:ILRUN semapv:UnspecifiedMatching +OMIM:612217 ILRUN skos:exactMatch ncbigene:64771 semapv:UnspecifiedMatching +OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:26636 semapv:UnspecifiedMatching +OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:ZBTB38 semapv:UnspecifiedMatching +OMIM:612218 ZBTB38 skos:exactMatch ncbigene:253461 semapv:UnspecifiedMatching +OMIM:612219 ewing sarcoma skos:exactMatch MONDO:0012817 semapv:UnspecifiedMatching +OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:24137 semapv:UnspecifiedMatching +OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:B4GALNT3 semapv:UnspecifiedMatching +OMIM:612220 B4GALNT3 skos:exactMatch ncbigene:283358 semapv:UnspecifiedMatching +OMIM:612222 GALNS skos:exactMatch hgnc.symbol:4122 semapv:UnspecifiedMatching +OMIM:612222 GALNS skos:exactMatch hgnc.symbol:GALNS semapv:UnspecifiedMatching +OMIM:612222 GALNS skos:exactMatch ncbigene:2588 semapv:UnspecifiedMatching +OMIM:612225 maturity-onset diabetes of the young, iia 9 skos:exactMatch MONDO:0012818 semapv:UnspecifiedMatching +OMIM:612227 diabetes mellitus, ketosis-prone skos:exactMatch MONDO:0100180 semapv:UnspecifiedMatching +OMIM:612229 colorectal cancer, susceptibility to, 3 skos:exactMatch MONDO:0012820 semapv:UnspecifiedMatching +OMIM:612230 colorectal cancer, susceptibility to, 5 skos:exactMatch MONDO:0012821 semapv:UnspecifiedMatching +OMIM:612231 colorectal cancer, susceptibility to, 6 skos:exactMatch MONDO:0012822 semapv:UnspecifiedMatching +OMIM:612232 colorectal cancer, susceptibility to, 7 skos:exactMatch MONDO:0012823 semapv:UnspecifiedMatching +OMIM:612233 leukodystrophy, hypomyelinating, 4 skos:exactMatch MONDO:0012824 semapv:UnspecifiedMatching +OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:23494 semapv:UnspecifiedMatching +OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:CALHM1 semapv:UnspecifiedMatching +OMIM:612234 CALHM1 skos:exactMatch ncbigene:255022 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch UMLS:C1539417 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:23493 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:CALHM2 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch ncbigene:51063 semapv:UnspecifiedMatching +OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:30208 semapv:UnspecifiedMatching +OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:ERGIC2 semapv:UnspecifiedMatching +OMIM:612236 ERGIC2 skos:exactMatch ncbigene:51290 semapv:UnspecifiedMatching +OMIM:612237 chondrosarcoma, extraskeletal myxoid skos:exactMatch MONDO:0012825 semapv:UnspecifiedMatching +OMIM:612238 scoliosis, isolated, susceptibility to, 4 skos:exactMatch MONDO:0012826 semapv:UnspecifiedMatching +OMIM:612239 scoliosis, isolated, susceptibility to, 5 skos:exactMatch MONDO:0012827 semapv:UnspecifiedMatching +OMIM:612240 atrial fibrillation, familial, 7 skos:exactMatch MONDO:0012828 semapv:UnspecifiedMatching +OMIM:612241 inflammatory bowel disease 12 skos:exactMatch MONDO:0012829 semapv:UnspecifiedMatching +OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome skos:exactMatch MONDO:0012830 semapv:UnspecifiedMatching +OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:13841 semapv:UnspecifiedMatching +OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:ADGRG6 semapv:UnspecifiedMatching +OMIM:612243 ADGRG6 skos:exactMatch ncbigene:57211 semapv:UnspecifiedMatching +OMIM:612244 inflammatory bowel disease 13 skos:exactMatch MONDO:0012831 semapv:UnspecifiedMatching +OMIM:612245 inflammatory bowel disease 14 skos:exactMatch MONDO:0012832 semapv:UnspecifiedMatching +OMIM:612246 CD302 skos:exactMatch hgnc.symbol:30843 semapv:UnspecifiedMatching +OMIM:612246 CD302 skos:exactMatch hgnc.symbol:CD302 semapv:UnspecifiedMatching +OMIM:612246 CD302 skos:exactMatch ncbigene:9936 semapv:UnspecifiedMatching +OMIM:612247 crouzon syndrome with acanthosis nigricans skos:exactMatch MONDO:0012833 semapv:UnspecifiedMatching +OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:30570 semapv:UnspecifiedMatching +OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:ZNF627 semapv:UnspecifiedMatching +OMIM:612248 ZNF627 skos:exactMatch ncbigene:199692 semapv:UnspecifiedMatching +OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:22207 semapv:UnspecifiedMatching +OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:THSD7A semapv:UnspecifiedMatching +OMIM:612249 THSD7A skos:exactMatch ncbigene:221981 semapv:UnspecifiedMatching +OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:23694 semapv:UnspecifiedMatching +OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:GPR161 semapv:UnspecifiedMatching +OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch ncbigene:23432 semapv:UnspecifiedMatching +OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch MONDO:0012834 semapv:UnspecifiedMatching +OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:26705 semapv:UnspecifiedMatching +OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:CLEC9A semapv:UnspecifiedMatching +OMIM:612252 CLEC9A skos:exactMatch ncbigene:283420 semapv:UnspecifiedMatching +OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch MONDO:0012835 semapv:UnspecifiedMatching +OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch MONDO:0012836 semapv:UnspecifiedMatching +OMIM:612255 inflammatory bowel disease 15 skos:exactMatch MONDO:0012837 semapv:UnspecifiedMatching +OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:19034 semapv:UnspecifiedMatching +OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:MAST1 semapv:UnspecifiedMatching +OMIM:612256 MAST1 skos:exactMatch ncbigene:22983 semapv:UnspecifiedMatching +OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:19035 semapv:UnspecifiedMatching +OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:MAST2 semapv:UnspecifiedMatching +OMIM:612257 MAST2 skos:exactMatch ncbigene:23139 semapv:UnspecifiedMatching +OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:19036 semapv:UnspecifiedMatching +OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:MAST3 semapv:UnspecifiedMatching +OMIM:612258 MAST3 skos:exactMatch ncbigene:23031 semapv:UnspecifiedMatching +OMIM:612259 inflammatory bowel disease 16 skos:exactMatch MONDO:0012838 semapv:UnspecifiedMatching +OMIM:612260 immunodeficiency 68 skos:exactMatch MONDO:0012839 semapv:UnspecifiedMatching +OMIM:612260 immunodeficiency 68 skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching +OMIM:612260 immunodeficiency 68 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching +OMIM:612261 inflammatory bowel disease 17 skos:exactMatch MONDO:0012840 semapv:UnspecifiedMatching +OMIM:612262 inflammatory bowel disease 18 skos:exactMatch MONDO:0012841 semapv:UnspecifiedMatching +OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch MONDO:0012842 semapv:UnspecifiedMatching +OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:16875 semapv:UnspecifiedMatching +OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:MRC2 semapv:UnspecifiedMatching +OMIM:612264 MRC2 skos:exactMatch ncbigene:9902 semapv:UnspecifiedMatching +OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:13247 semapv:UnspecifiedMatching +OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:FAM120A semapv:UnspecifiedMatching +OMIM:612265 FAM120A skos:exactMatch ncbigene:23196 semapv:UnspecifiedMatching +OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:21109 semapv:UnspecifiedMatching +OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:FAM120B semapv:UnspecifiedMatching +OMIM:612266 FAM120B skos:exactMatch ncbigene:84498 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch UMLS:C1823540 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch UMLS:C4014501 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:19963 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:TTLL5 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch ncbigene:23093 semapv:UnspecifiedMatching +OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch MONDO:0012843 semapv:UnspecifiedMatching +OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:14625 semapv:UnspecifiedMatching +OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:CDCA4 semapv:UnspecifiedMatching +OMIM:612270 CDCA4 skos:exactMatch ncbigene:55038 semapv:UnspecifiedMatching +OMIM:612271 skin/hair/eye pigmentation, variation in, 11 skos:exactMatch MONDO:0044276 semapv:UnspecifiedMatching +OMIM:612274 ciliary dyskinesia, primary, 8 skos:exactMatch MONDO:0012844 semapv:UnspecifiedMatching +OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:19357 semapv:UnspecifiedMatching +OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:GGNBP2 semapv:UnspecifiedMatching +OMIM:612275 GGNBP2 skos:exactMatch ncbigene:79893 semapv:UnspecifiedMatching +OMIM:612276 YRDC skos:exactMatch hgnc.symbol:28905 semapv:UnspecifiedMatching +OMIM:612276 YRDC skos:exactMatch hgnc.symbol:YRDC semapv:UnspecifiedMatching +OMIM:612276 YRDC skos:exactMatch ncbigene:79693 semapv:UnspecifiedMatching +OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:14631 semapv:UnspecifiedMatching +OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:ADAMTSL2 semapv:UnspecifiedMatching +OMIM:612277 ADAMTSL2 skos:exactMatch ncbigene:9719 semapv:UnspecifiedMatching +OMIM:612278 inflammatory bowel disease (crohn disease) 19 skos:exactMatch MONDO:0012845 semapv:UnspecifiedMatching +OMIM:612279 generalized epilepsy with febrile seizures plus, iia 6 skos:exactMatch MONDO:0012846 semapv:UnspecifiedMatching +OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:4006 semapv:UnspecifiedMatching +OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:FUCA1 semapv:UnspecifiedMatching +OMIM:612280 FUCA1 skos:exactMatch ncbigene:2517 semapv:UnspecifiedMatching +OMIM:612281 ichthyosis, congenital, autosomal recessive 6 skos:exactMatch MONDO:0012847 semapv:UnspecifiedMatching +OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:21711 semapv:UnspecifiedMatching +OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:ZNF804A semapv:UnspecifiedMatching +OMIM:612282 ZNF804A skos:exactMatch ncbigene:91752 semapv:UnspecifiedMatching +OMIM:612283 PROC skos:exactMatch hgnc.symbol:9451 semapv:UnspecifiedMatching +OMIM:612283 PROC skos:exactMatch hgnc.symbol:PROC semapv:UnspecifiedMatching +OMIM:612283 PROC skos:exactMatch ncbigene:5624 semapv:UnspecifiedMatching +OMIM:612284 meckel syndrome, iia 6 skos:exactMatch MONDO:0012848 semapv:UnspecifiedMatching +OMIM:612285 joubert syndrome 9 skos:exactMatch MONDO:0012849 semapv:UnspecifiedMatching +OMIM:612285 joubert syndrome 9 skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching +OMIM:612285 joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching +OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 skos:exactMatch MONDO:0012850 semapv:UnspecifiedMatching +OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 skos:exactMatch MONDO:0012851 semapv:UnspecifiedMatching +OMIM:612288 inflammatory bowel disease 20 skos:exactMatch MONDO:0012852 semapv:UnspecifiedMatching +OMIM:612289 fontaine progeroid syndrome skos:exactMatch MONDO:0012853 semapv:UnspecifiedMatching +OMIM:612290 microtia, hearing impairment, and cleft palate skos:exactMatch MONDO:0012854 semapv:UnspecifiedMatching +OMIM:612291 joubert syndrome 8 skos:exactMatch MONDO:0012855 semapv:UnspecifiedMatching +OMIM:612291 joubert syndrome 8 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:612291 joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching +OMIM:612292 birk-barel syndrome skos:exactMatch MONDO:0012856 semapv:UnspecifiedMatching +OMIM:612292 birk-barel syndrome skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching +OMIM:612292 birk-barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching +OMIM:612293 porokeratosis 5, disseminated superficial actinic iia skos:exactMatch MONDO:0012857 semapv:UnspecifiedMatching +OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:29899 semapv:UnspecifiedMatching +OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:DEPDC7 semapv:UnspecifiedMatching +OMIM:612294 DEPDC7 skos:exactMatch ncbigene:91614 semapv:UnspecifiedMatching +OMIM:612295 ARL14EP skos:exactMatch UMLS:C1824313 semapv:UnspecifiedMatching +OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:26798 semapv:UnspecifiedMatching +OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:ARL14EP semapv:UnspecifiedMatching +OMIM:612295 ARL14EP skos:exactMatch ncbigene:120534 semapv:UnspecifiedMatching +OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:27456 semapv:UnspecifiedMatching +OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:LINC00294 semapv:UnspecifiedMatching +OMIM:612296 LINC00294 skos:exactMatch ncbigene:283267 semapv:UnspecifiedMatching +OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:24836 semapv:UnspecifiedMatching +OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:KIAA1549L semapv:UnspecifiedMatching +OMIM:612297 C11ORF41 skos:exactMatch ncbigene:25758 semapv:UnspecifiedMatching +OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:19016 semapv:UnspecifiedMatching +OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:TRIM44 semapv:UnspecifiedMatching +OMIM:612298 TRIM44 skos:exactMatch ncbigene:54765 semapv:UnspecifiedMatching +OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:25014 semapv:UnspecifiedMatching +OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:COMMD9 semapv:UnspecifiedMatching +OMIM:612299 COMMD9 skos:exactMatch ncbigene:29099 semapv:UnspecifiedMatching +OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy skos:exactMatch MONDO:0012858 semapv:UnspecifiedMatching +OMIM:612301 osteopetrosis, autosomal recessive 7 skos:exactMatch MONDO:0012859 semapv:UnspecifiedMatching +OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:13838 semapv:UnspecifiedMatching +OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:ADGRA1 semapv:UnspecifiedMatching +OMIM:612302 ADGRA1 skos:exactMatch ncbigene:84435 semapv:UnspecifiedMatching +OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:13839 semapv:UnspecifiedMatching +OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:ADGRA3 semapv:UnspecifiedMatching +OMIM:612303 ADGRA3 skos:exactMatch ncbigene:166647 semapv:UnspecifiedMatching +OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive skos:exactMatch MONDO:0012860 semapv:UnspecifiedMatching +OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:19240 semapv:UnspecifiedMatching +OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:ADGRE4P semapv:UnspecifiedMatching +OMIM:612305 ADGRE4P skos:exactMatch ncbigene:326342 semapv:UnspecifiedMatching +OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:19241 semapv:UnspecifiedMatching +OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:ADGRG7 semapv:UnspecifiedMatching +OMIM:612307 ADGRG7 skos:exactMatch ncbigene:84873 semapv:UnspecifiedMatching +OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:23847 semapv:UnspecifiedMatching +OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:ZBTB4 semapv:UnspecifiedMatching +OMIM:612308 ZBTB4 skos:exactMatch ncbigene:57659 semapv:UnspecifiedMatching +OMIM:612309 F5 skos:exactMatch hgnc.symbol:3542 semapv:UnspecifiedMatching +OMIM:612309 F5 skos:exactMatch hgnc.symbol:F5 semapv:UnspecifiedMatching +OMIM:612309 F5 skos:exactMatch ncbigene:2153 semapv:UnspecifiedMatching +OMIM:612310 premature ovarian failure 6 skos:exactMatch MONDO:0012861 semapv:UnspecifiedMatching +OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch MONDO:0012862 semapv:UnspecifiedMatching +OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch MONDO:0012863 semapv:UnspecifiedMatching +OMIM:612313 glass syndrome skos:exactMatch MONDO:0012864 semapv:UnspecifiedMatching +OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:23064 semapv:UnspecifiedMatching +OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:GSTO2 semapv:UnspecifiedMatching +OMIM:612314 GSTO2 skos:exactMatch ncbigene:119391 semapv:UnspecifiedMatching +OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:20406 semapv:UnspecifiedMatching +OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:KRT6C semapv:UnspecifiedMatching +OMIM:612315 KRT6C skos:exactMatch ncbigene:286887 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C1428501 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310856 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:25567 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:ATAD3A semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch ncbigene:55210 semapv:UnspecifiedMatching +OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:24007 semapv:UnspecifiedMatching +OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:ATAD3B semapv:UnspecifiedMatching +OMIM:612317 ATAD3B skos:exactMatch ncbigene:83858 semapv:UnspecifiedMatching +OMIM:612318 pseudofolliculitis barbae skos:exactMatch MONDO:0012865 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch MONDO:0012866 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3668943 semapv:UnspecifiedMatching +OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:27297 semapv:UnspecifiedMatching +OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:CDCP2 semapv:UnspecifiedMatching +OMIM:612320 CDCP2 skos:exactMatch ncbigene:200008 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch UMLS:C1825280 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:29160 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:FASTKD2 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch ncbigene:22868 semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch UMLS:C1825596 semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:26317 semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:IMMP1L semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch ncbigene:196294 semapv:UnspecifiedMatching +OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:25079 semapv:UnspecifiedMatching +OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:CCDC34 semapv:UnspecifiedMatching +OMIM:612324 CCDC34 skos:exactMatch ncbigene:91057 semapv:UnspecifiedMatching +OMIM:612325 ICK skos:exactMatch hgnc.symbol:21219 semapv:UnspecifiedMatching +OMIM:612325 ICK skos:exactMatch hgnc.symbol:CILK1 semapv:UnspecifiedMatching +OMIM:612325 ICK skos:exactMatch ncbigene:22858 semapv:UnspecifiedMatching +OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:29181 semapv:UnspecifiedMatching +OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:TCF25 semapv:UnspecifiedMatching +OMIM:612326 TCF25 skos:exactMatch ncbigene:22980 semapv:UnspecifiedMatching +OMIM:612327 MANEA skos:exactMatch hgnc.symbol:21072 semapv:UnspecifiedMatching +OMIM:612327 MANEA skos:exactMatch hgnc.symbol:MANEA semapv:UnspecifiedMatching +OMIM:612327 MANEA skos:exactMatch ncbigene:79694 semapv:UnspecifiedMatching +OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:23261 semapv:UnspecifiedMatching +OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:CCDC73 semapv:UnspecifiedMatching +OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch ncbigene:493860 semapv:UnspecifiedMatching +OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:31624 semapv:UnspecifiedMatching +OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:MIR30A semapv:UnspecifiedMatching +OMIM:612329 MIR30A skos:exactMatch ncbigene:407029 semapv:UnspecifiedMatching +OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:32866 semapv:UnspecifiedMatching +OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:MIR610 semapv:UnspecifiedMatching +OMIM:612330 MIRN610 skos:exactMatch ncbigene:693195 semapv:UnspecifiedMatching +OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:17788 semapv:UnspecifiedMatching +OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:LIN7B semapv:UnspecifiedMatching +OMIM:612331 LIN7B skos:exactMatch ncbigene:64130 semapv:UnspecifiedMatching +OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:17789 semapv:UnspecifiedMatching +OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:LIN7C semapv:UnspecifiedMatching +OMIM:612332 LIN7C skos:exactMatch ncbigene:55327 semapv:UnspecifiedMatching +OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:13408 semapv:UnspecifiedMatching +OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:PDCD11 semapv:UnspecifiedMatching +OMIM:612333 PDCD11 skos:exactMatch ncbigene:22984 semapv:UnspecifiedMatching +OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:21683 semapv:UnspecifiedMatching +OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:NAPEPLD semapv:UnspecifiedMatching +OMIM:612334 NAPEPLD skos:exactMatch ncbigene:222236 semapv:UnspecifiedMatching +OMIM:612335 spastic paraplegia 38, autosomal dominant skos:exactMatch MONDO:0012867 semapv:UnspecifiedMatching +OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant skos:exactMatch MONDO:0012868 semapv:UnspecifiedMatching +OMIM:612337 intellectual developmental disorder, autosomal dominant 22 skos:exactMatch MONDO:0012869 semapv:UnspecifiedMatching +OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:16437 semapv:UnspecifiedMatching +OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:GGTLC1 semapv:UnspecifiedMatching +OMIM:612338 GGTLC1 skos:exactMatch ncbigene:92086 semapv:UnspecifiedMatching +OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:18596 semapv:UnspecifiedMatching +OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:GGTLC2 semapv:UnspecifiedMatching +OMIM:612339 GGTLC2 skos:exactMatch ncbigene:91227 semapv:UnspecifiedMatching +OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:33426 semapv:UnspecifiedMatching +OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:GGTLC3 semapv:UnspecifiedMatching +OMIM:612340 GGTLC3 skos:exactMatch ncbigene:728226 semapv:UnspecifiedMatching +OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:26891 semapv:UnspecifiedMatching +OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:GGT6 semapv:UnspecifiedMatching +OMIM:612341 GGT6 skos:exactMatch ncbigene:124975 semapv:UnspecifiedMatching +OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:4259 semapv:UnspecifiedMatching +OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:GGT7 semapv:UnspecifiedMatching +OMIM:612342 GGT7 skos:exactMatch ncbigene:2686 semapv:UnspecifiedMatching +OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:26332 semapv:UnspecifiedMatching +OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:ZNF385B semapv:UnspecifiedMatching +OMIM:612344 ZNF385B skos:exactMatch ncbigene:151126 semapv:UnspecifiedMatching +OMIM:612345 chromosome 2q31.2 deletion syndrome skos:exactMatch MONDO:0012870 semapv:UnspecifiedMatching +OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:4250 semapv:UnspecifiedMatching +OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:GGT1 semapv:UnspecifiedMatching +OMIM:612346 GGT1 skos:exactMatch ncbigene:2678 semapv:UnspecifiedMatching +OMIM:612347 jervell and lange-nielsen syndrome 2 skos:exactMatch MONDO:0012871 semapv:UnspecifiedMatching +OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch MONDO:0012872 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C1418251 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C2676533 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch UMLS:C2678416 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch hgnc.symbol:8582 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch hgnc.symbol:PAH semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch ncbigene:5053 semapv:UnspecifiedMatching +OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 skos:exactMatch MONDO:0012873 semapv:UnspecifiedMatching +OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:35123 semapv:UnspecifiedMatching +OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:FOXI3 semapv:UnspecifiedMatching +OMIM:612351 FOXI3 skos:exactMatch ncbigene:344167 semapv:UnspecifiedMatching +OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:24105 semapv:UnspecifiedMatching +OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:STAMBPL1 semapv:UnspecifiedMatching +OMIM:612352 STAMBPL1 skos:exactMatch ncbigene:57559 semapv:UnspecifiedMatching +OMIM:612353 porokeratosis 6, multiple types skos:exactMatch MONDO:0012874 semapv:UnspecifiedMatching +OMIM:612354 inflammatory bowel disease 21 skos:exactMatch MONDO:0012875 semapv:UnspecifiedMatching +OMIM:612356 heparin cofactor 2 deficiency skos:exactMatch MONDO:0012876 semapv:UnspecifiedMatching +OMIM:612357 major affective disorder 8 skos:exactMatch MONDO:0012877 semapv:UnspecifiedMatching +OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:6383 semapv:UnspecifiedMatching +OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:KNG1 semapv:UnspecifiedMatching +OMIM:612358 KNG1 skos:exactMatch ncbigene:3827 semapv:UnspecifiedMatching +OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:15899 semapv:UnspecifiedMatching +OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:NDUFAF5 semapv:UnspecifiedMatching +OMIM:612360 NDUFAF5 skos:exactMatch ncbigene:79133 semapv:UnspecifiedMatching +OMIM:612361 schizophrenia 14 skos:exactMatch MONDO:0012879 semapv:UnspecifiedMatching +OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch MONDO:0012880 semapv:UnspecifiedMatching +OMIM:612371 major affective disorder 7 skos:exactMatch MONDO:0012881 semapv:UnspecifiedMatching +OMIM:612372 major affective disorder 9 skos:exactMatch MONDO:0012882 semapv:UnspecifiedMatching +OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:23096 semapv:UnspecifiedMatching +OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:SLC29A3 semapv:UnspecifiedMatching +OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch ncbigene:55315 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch UMLS:C1823437 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch UMLS:C4014722 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch hgnc.symbol:27962 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch hgnc.symbol:STING1 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch ncbigene:340061 semapv:UnspecifiedMatching +OMIM:612375 AIDA skos:exactMatch hgnc.symbol:25761 semapv:UnspecifiedMatching +OMIM:612375 AIDA skos:exactMatch hgnc.symbol:AIDA semapv:UnspecifiedMatching +OMIM:612375 AIDA skos:exactMatch ncbigene:64853 semapv:UnspecifiedMatching +OMIM:612376 acute promyelocytic leukemia skos:exactMatch MONDO:0012883 semapv:UnspecifiedMatching +OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:24015 semapv:UnspecifiedMatching +OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:COMMD6 semapv:UnspecifiedMatching +OMIM:612377 COMMD6 skos:exactMatch ncbigene:170622 semapv:UnspecifiedMatching +OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch MONDO:0012884 semapv:UnspecifiedMatching +OMIM:612379 congenital disorder of glycosylation, iia iq skos:exactMatch MONDO:0012885 semapv:UnspecifiedMatching +OMIM:612380 inflammatory bowel disease 22 skos:exactMatch MONDO:0012886 semapv:UnspecifiedMatching +OMIM:612381 inflammatory bowel disease 23 skos:exactMatch MONDO:0012887 semapv:UnspecifiedMatching +OMIM:612382 MED10 skos:exactMatch hgnc.symbol:28760 semapv:UnspecifiedMatching +OMIM:612382 MED10 skos:exactMatch hgnc.symbol:MED10 semapv:UnspecifiedMatching +OMIM:612382 MED10 skos:exactMatch ncbigene:84246 semapv:UnspecifiedMatching +OMIM:612383 MED11 skos:exactMatch hgnc.symbol:32687 semapv:UnspecifiedMatching +OMIM:612383 MED11 skos:exactMatch hgnc.symbol:MED11 semapv:UnspecifiedMatching +OMIM:612383 MED11 skos:exactMatch ncbigene:400569 semapv:UnspecifiedMatching +OMIM:612384 MED18 skos:exactMatch hgnc.symbol:25944 semapv:UnspecifiedMatching +OMIM:612384 MED18 skos:exactMatch hgnc.symbol:MED18 semapv:UnspecifiedMatching +OMIM:612384 MED18 skos:exactMatch ncbigene:54797 semapv:UnspecifiedMatching +OMIM:612385 MED19 skos:exactMatch hgnc.symbol:29600 semapv:UnspecifiedMatching +OMIM:612385 MED19 skos:exactMatch hgnc.symbol:MED19 semapv:UnspecifiedMatching +OMIM:612385 MED19 skos:exactMatch ncbigene:219541 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch UMLS:C1414580 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch UMLS:C4692546 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch hgnc.symbol:3647 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch hgnc.symbol:FECH semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch ncbigene:2235 semapv:UnspecifiedMatching +OMIM:612387 sarcoidosis, susceptibility to, 2 skos:exactMatch MONDO:0012888 semapv:UnspecifiedMatching +OMIM:612388 sarcoidosis, susceptibility to, 3 skos:exactMatch MONDO:0012889 semapv:UnspecifiedMatching +OMIM:612389 pontocerebellar hypoplasia, iia 2b skos:exactMatch MONDO:0012890 semapv:UnspecifiedMatching +OMIM:612390 pontocerebellar hypoplasia, iia 2c skos:exactMatch MONDO:0012891 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C1824247 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:28625 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:NDUFAF6 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch ncbigene:137682 semapv:UnspecifiedMatching +OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:30493 semapv:UnspecifiedMatching +OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:WHAMM semapv:UnspecifiedMatching +OMIM:612393 WHAMM skos:exactMatch ncbigene:123720 semapv:UnspecifiedMatching +OMIM:612394 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch MONDO:0012892 semapv:UnspecifiedMatching +OMIM:612395 CHKB skos:exactMatch hgnc.symbol:1938 semapv:UnspecifiedMatching +OMIM:612395 CHKB skos:exactMatch hgnc.symbol:CHKB semapv:UnspecifiedMatching +OMIM:612395 CHKB skos:exactMatch ncbigene:1120 semapv:UnspecifiedMatching +OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:17377 semapv:UnspecifiedMatching +OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:ALLC semapv:UnspecifiedMatching +OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:33484 semapv:UnspecifiedMatching +OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:COL6A4P1 semapv:UnspecifiedMatching +OMIM:612397 COL6A4P1 skos:exactMatch ncbigene:344875 semapv:UnspecifiedMatching +OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:18263 semapv:UnspecifiedMatching +OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:RAB21 semapv:UnspecifiedMatching +OMIM:612398 RAB21 skos:exactMatch ncbigene:23011 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch UMLS:C1539970 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:30788 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:TLE6 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch ncbigene:79816 semapv:UnspecifiedMatching +OMIM:612400 osteoarthritis susceptibility 5 skos:exactMatch MONDO:0012893 semapv:UnspecifiedMatching +OMIM:612401 osteoarthritis susceptibility 6 skos:exactMatch MONDO:0012894 semapv:UnspecifiedMatching +OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:20605 semapv:UnspecifiedMatching +OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:ALS2CL semapv:UnspecifiedMatching +OMIM:612402 ALS2CL skos:exactMatch ncbigene:259173 semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch UMLS:C1428270 semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:23802 semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:RASL11A semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch ncbigene:387496 semapv:UnspecifiedMatching +OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:23804 semapv:UnspecifiedMatching +OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:RASL11B semapv:UnspecifiedMatching +OMIM:612404 RASL11B skos:exactMatch ncbigene:65997 semapv:UnspecifiedMatching +OMIM:612405 ARL9 skos:exactMatch UMLS:C1428141 semapv:UnspecifiedMatching +OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:23592 semapv:UnspecifiedMatching +OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:ARL9 semapv:UnspecifiedMatching +OMIM:612405 ARL9 skos:exactMatch ncbigene:132946 semapv:UnspecifiedMatching +OMIM:612406 dystonia 17, torsion, autosomal recessive skos:exactMatch MONDO:0012895 semapv:UnspecifiedMatching +OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:26839 semapv:UnspecifiedMatching +OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:RGS21 semapv:UnspecifiedMatching +OMIM:612407 RGS21 skos:exactMatch ncbigene:431704 semapv:UnspecifiedMatching +OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:20320 semapv:UnspecifiedMatching +OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:PSPC1 semapv:UnspecifiedMatching +OMIM:612408 PSPC1 skos:exactMatch ncbigene:55269 semapv:UnspecifiedMatching +OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:14219 semapv:UnspecifiedMatching +OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:RBM14 semapv:UnspecifiedMatching +OMIM:612409 RBM14 skos:exactMatch ncbigene:10432 semapv:UnspecifiedMatching +OMIM:612410 psoriasis 10, susceptibility to skos:exactMatch MONDO:0012896 semapv:UnspecifiedMatching +OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:23109 semapv:UnspecifiedMatching +OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:FAT4 semapv:UnspecifiedMatching +OMIM:612411 FAT4 skos:exactMatch ncbigene:79633 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch UMLS:C1412978 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:1298 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:SPATC1L semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch ncbigene:84221 semapv:UnspecifiedMatching +OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:9904 semapv:UnspecifiedMatching +OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:RBM7 semapv:UnspecifiedMatching +OMIM:612413 RBM7 skos:exactMatch ncbigene:10179 semapv:UnspecifiedMatching +OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:25033 semapv:UnspecifiedMatching +OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:LRTOMT semapv:UnspecifiedMatching +OMIM:612414 LRTOMT skos:exactMatch ncbigene:220074 semapv:UnspecifiedMatching +OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:9765 semapv:UnspecifiedMatching +OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:RAB24 semapv:UnspecifiedMatching +OMIM:612415 RAB24 skos:exactMatch ncbigene:53917 semapv:UnspecifiedMatching +OMIM:612416 factor 11 deficiency skos:exactMatch MONDO:0012897 semapv:UnspecifiedMatching +OMIM:612417 narcolepsy 4, susceptibility to skos:exactMatch MONDO:0012898 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch UMLS:C1823334 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:26050 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:TMEM70 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch ncbigene:54968 semapv:UnspecifiedMatching +OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:24213 semapv:UnspecifiedMatching +OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:CILP2 semapv:UnspecifiedMatching +OMIM:612419 CILP2 skos:exactMatch ncbigene:148113 semapv:UnspecifiedMatching +OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:25901 semapv:UnspecifiedMatching +OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:AFAP1L2 semapv:UnspecifiedMatching +OMIM:612420 AFAP1L2 skos:exactMatch ncbigene:84632 semapv:UnspecifiedMatching +OMIM:612421 alopecia, androgenetic, 3 skos:exactMatch MONDO:0012899 semapv:UnspecifiedMatching +OMIM:612422 cardiomyopathy, familial restrictive, 3 skos:exactMatch MONDO:0012900 semapv:UnspecifiedMatching +OMIM:612423 prekallikrein deficiency skos:exactMatch MONDO:0012901 semapv:UnspecifiedMatching +OMIM:612424 EYS skos:exactMatch hgnc.symbol:21555 semapv:UnspecifiedMatching +OMIM:612424 EYS skos:exactMatch hgnc.symbol:EYS semapv:UnspecifiedMatching +OMIM:612424 EYS skos:exactMatch ncbigene:346007 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch UMLS:C1429002 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:30812 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:SGO2 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch ncbigene:151246 semapv:UnspecifiedMatching +OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:28349 semapv:UnspecifiedMatching +OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:RMI2 semapv:UnspecifiedMatching +OMIM:612426 RMI2 skos:exactMatch ncbigene:116028 semapv:UnspecifiedMatching +OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:23244 semapv:UnspecifiedMatching +OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:RBM25 semapv:UnspecifiedMatching +OMIM:612427 RBM25 skos:exactMatch ncbigene:58517 semapv:UnspecifiedMatching +OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:15818 semapv:UnspecifiedMatching +OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:RBM38 semapv:UnspecifiedMatching +OMIM:612428 RBM38 skos:exactMatch ncbigene:55544 semapv:UnspecifiedMatching +OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:13091 semapv:UnspecifiedMatching +OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:ZNF300 semapv:UnspecifiedMatching +OMIM:612429 ZNF300 skos:exactMatch ncbigene:91975 semapv:UnspecifiedMatching +OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:25503 semapv:UnspecifiedMatching +OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:RBM22 semapv:UnspecifiedMatching +OMIM:612430 RBM22 skos:exactMatch ncbigene:55696 semapv:UnspecifiedMatching +OMIM:612431 deafness, autosomal dominant 27 skos:exactMatch MONDO:0012902 semapv:UnspecifiedMatching +OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:22004 semapv:UnspecifiedMatching +OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:WIPF3 semapv:UnspecifiedMatching +OMIM:612432 WIPF3 skos:exactMatch ncbigene:644150 semapv:UnspecifiedMatching +OMIM:612433 deafness, autosomal recessive 45 skos:exactMatch MONDO:0012903 semapv:UnspecifiedMatching +OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:25248 semapv:UnspecifiedMatching +OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:CRISPLD2 semapv:UnspecifiedMatching +OMIM:612434 CRISPLD2 skos:exactMatch ncbigene:83716 semapv:UnspecifiedMatching +OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:10952 semapv:UnspecifiedMatching +OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:SLCO3A1 semapv:UnspecifiedMatching +OMIM:612435 SLCO3A1 skos:exactMatch ncbigene:28232 semapv:UnspecifiedMatching +OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:10953 semapv:UnspecifiedMatching +OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:SLCO4A1 semapv:UnspecifiedMatching +OMIM:612436 SLCO4A1 skos:exactMatch ncbigene:28231 semapv:UnspecifiedMatching +OMIM:612437 epilepsy, progressive myoclonic, 1b skos:exactMatch MONDO:0012904 semapv:UnspecifiedMatching +OMIM:612438 leukodystrophy, hypomyelinating, 6 skos:exactMatch MONDO:0012905 semapv:UnspecifiedMatching +OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:661 semapv:UnspecifiedMatching +OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:ARFGAP3 semapv:UnspecifiedMatching +OMIM:612439 ARFGAP3 skos:exactMatch ncbigene:26286 semapv:UnspecifiedMatching +OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:24140 semapv:UnspecifiedMatching +OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:MGAT5B semapv:UnspecifiedMatching +OMIM:612441 MGAT5B skos:exactMatch ncbigene:146664 semapv:UnspecifiedMatching +OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:20260 semapv:UnspecifiedMatching +OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:SEC22A semapv:UnspecifiedMatching +OMIM:612442 SEC22A skos:exactMatch ncbigene:26984 semapv:UnspecifiedMatching +OMIM:612444 ciliary dyskinesia, primary, 9 skos:exactMatch MONDO:0012906 semapv:UnspecifiedMatching +OMIM:612445 scoliosis, arachnodactyly, and blindness skos:exactMatch MONDO:0012907 semapv:UnspecifiedMatching +OMIM:612446 complement component 6 deficiency skos:exactMatch MONDO:0012908 semapv:UnspecifiedMatching +OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development skos:exactMatch MONDO:0012909 semapv:UnspecifiedMatching +OMIM:612448 age-related hearing impairment 1 skos:exactMatch MONDO:0012910 semapv:UnspecifiedMatching +OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:26881 semapv:UnspecifiedMatching +OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:GEN1 semapv:UnspecifiedMatching +OMIM:612449 GEN1 skos:exactMatch ncbigene:348654 semapv:UnspecifiedMatching +OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:4834 semapv:UnspecifiedMatching +OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:HBS1L semapv:UnspecifiedMatching +OMIM:612450 HBS1L skos:exactMatch ncbigene:10767 semapv:UnspecifiedMatching +OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:13094 semapv:UnspecifiedMatching +OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:RNF114 semapv:UnspecifiedMatching +OMIM:612451 RNF114 skos:exactMatch ncbigene:55905 semapv:UnspecifiedMatching +OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:24565 semapv:UnspecifiedMatching +OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:KANSL1 semapv:UnspecifiedMatching +OMIM:612452 KANSL1 skos:exactMatch ncbigene:284058 semapv:UnspecifiedMatching +OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:29634 semapv:UnspecifiedMatching +OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:MEGF10 semapv:UnspecifiedMatching +OMIM:612453 MEGF10 skos:exactMatch ncbigene:84466 semapv:UnspecifiedMatching +OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:29635 semapv:UnspecifiedMatching +OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:MEGF11 semapv:UnspecifiedMatching +OMIM:612454 MEGF11 skos:exactMatch ncbigene:84465 semapv:UnspecifiedMatching +OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:28750 semapv:UnspecifiedMatching +OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:SLC5A12 semapv:UnspecifiedMatching +OMIM:612455 SLC5A12 skos:exactMatch ncbigene:159963 semapv:UnspecifiedMatching +OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:25268 semapv:UnspecifiedMatching +OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:APOLD1 semapv:UnspecifiedMatching +OMIM:612456 APOLD1 skos:exactMatch ncbigene:81575 semapv:UnspecifiedMatching +OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:14350 semapv:UnspecifiedMatching +OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:ARID3B semapv:UnspecifiedMatching +OMIM:612457 ARID3B skos:exactMatch ncbigene:10620 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch UMLS:C1538908 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:160 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:ACTL6B semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch ncbigene:51412 semapv:UnspecifiedMatching +OMIM:612461 ARC skos:exactMatch hgnc.symbol:648 semapv:UnspecifiedMatching +OMIM:612461 ARC skos:exactMatch hgnc.symbol:ARC semapv:UnspecifiedMatching +OMIM:612461 ARC skos:exactMatch ncbigene:23237 semapv:UnspecifiedMatching +OMIM:612462 pseudohypoparathyroidism, iia 1c skos:exactMatch MONDO:0012911 semapv:UnspecifiedMatching +OMIM:612463 pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 semapv:UnspecifiedMatching +OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:29263 semapv:UnspecifiedMatching +OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:ARRDC3 semapv:UnspecifiedMatching +OMIM:612464 ARRDC3 skos:exactMatch ncbigene:57561 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch UMLS:C1426056 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch UMLS:C5436964 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:19165 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:TBC1D4 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch ncbigene:9882 semapv:UnspecifiedMatching +OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:20480 semapv:UnspecifiedMatching +OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:GBP4 semapv:UnspecifiedMatching +OMIM:612466 GBP4 skos:exactMatch ncbigene:115361 semapv:UnspecifiedMatching +OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:25395 semapv:UnspecifiedMatching +OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:GBP6 semapv:UnspecifiedMatching +OMIM:612467 GBP6 skos:exactMatch ncbigene:163351 semapv:UnspecifiedMatching +OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:29606 semapv:UnspecifiedMatching +OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:GBP7 semapv:UnspecifiedMatching +OMIM:612468 GBP7 skos:exactMatch ncbigene:388646 semapv:UnspecifiedMatching +OMIM:612469 wagro syndrome skos:exactMatch MONDO:0012913 semapv:UnspecifiedMatching +OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:28915 semapv:UnspecifiedMatching +OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:BATF3 semapv:UnspecifiedMatching +OMIM:612470 BATF3 skos:exactMatch ncbigene:55509 semapv:UnspecifiedMatching +OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:14412 semapv:UnspecifiedMatching +OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:AGXT2 semapv:UnspecifiedMatching +OMIM:612471 AGXT2 skos:exactMatch ncbigene:64902 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch UMLS:C1424999 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:17563 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:METTL3 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch ncbigene:56339 semapv:UnspecifiedMatching +OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:28319 semapv:UnspecifiedMatching +OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:PEBP4 semapv:UnspecifiedMatching +OMIM:612473 PEBP4 skos:exactMatch ncbigene:157310 semapv:UnspecifiedMatching +OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb skos:exactMatch MONDO:0012914 semapv:UnspecifiedMatching +OMIM:612475 chromosome 1q21.1 duplication syndrome skos:exactMatch MONDO:0012915 semapv:UnspecifiedMatching +OMIM:612476 BATF skos:exactMatch hgnc.symbol:958 semapv:UnspecifiedMatching +OMIM:612476 BATF skos:exactMatch hgnc.symbol:BATF semapv:UnspecifiedMatching +OMIM:612476 BATF skos:exactMatch ncbigene:10538 semapv:UnspecifiedMatching +OMIM:612477 IQCG skos:exactMatch hgnc.symbol:25251 semapv:UnspecifiedMatching +OMIM:612477 IQCG skos:exactMatch hgnc.symbol:IQCG semapv:UnspecifiedMatching +OMIM:612477 IQCG skos:exactMatch ncbigene:84223 semapv:UnspecifiedMatching +OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:15851 semapv:UnspecifiedMatching +OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:NECAB3 semapv:UnspecifiedMatching +OMIM:612478 NECAB3 skos:exactMatch ncbigene:63941 semapv:UnspecifiedMatching +OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:23696 semapv:UnspecifiedMatching +OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:TIPARP semapv:UnspecifiedMatching +OMIM:612480 TIPARP skos:exactMatch ncbigene:25976 semapv:UnspecifiedMatching +OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:21919 semapv:UnspecifiedMatching +OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:PARP12 semapv:UnspecifiedMatching +OMIM:612481 PARP12 skos:exactMatch ncbigene:64761 semapv:UnspecifiedMatching +OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:18505 semapv:UnspecifiedMatching +OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:RNF43 semapv:UnspecifiedMatching +OMIM:612482 RNF43 skos:exactMatch ncbigene:54894 semapv:UnspecifiedMatching +OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:23112 semapv:UnspecifiedMatching +OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:FAT3 semapv:UnspecifiedMatching +OMIM:612483 FAT3 skos:exactMatch ncbigene:120114 semapv:UnspecifiedMatching +OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:19278 semapv:UnspecifiedMatching +OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:RNASE7 semapv:UnspecifiedMatching +OMIM:612484 RNASE7 skos:exactMatch ncbigene:84659 semapv:UnspecifiedMatching +OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:19277 semapv:UnspecifiedMatching +OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:RNASE8 semapv:UnspecifiedMatching +OMIM:612485 RNASE8 skos:exactMatch ncbigene:122665 semapv:UnspecifiedMatching +OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:23111 semapv:UnspecifiedMatching +OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:DCHS2 semapv:UnspecifiedMatching +OMIM:612486 DCHS2 skos:exactMatch ncbigene:54798 semapv:UnspecifiedMatching +OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:16031 semapv:UnspecifiedMatching +OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:RNF31 semapv:UnspecifiedMatching +OMIM:612487 RNF31 skos:exactMatch ncbigene:55072 semapv:UnspecifiedMatching +OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:18052 semapv:UnspecifiedMatching +OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:RNF38 semapv:UnspecifiedMatching +OMIM:612488 RNF38 skos:exactMatch ncbigene:152006 semapv:UnspecifiedMatching +OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:13779 semapv:UnspecifiedMatching +OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:RNF24 semapv:UnspecifiedMatching +OMIM:612489 RNF24 skos:exactMatch ncbigene:11237 semapv:UnspecifiedMatching +OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:28037 semapv:UnspecifiedMatching +OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:RNF181 semapv:UnspecifiedMatching +OMIM:612490 RNF181 skos:exactMatch ncbigene:51255 semapv:UnspecifiedMatching +OMIM:612491 APIP skos:exactMatch hgnc.symbol:17581 semapv:UnspecifiedMatching +OMIM:612491 APIP skos:exactMatch hgnc.symbol:APIP semapv:UnspecifiedMatching +OMIM:612491 APIP skos:exactMatch ncbigene:51074 semapv:UnspecifiedMatching +OMIM:612492 USP30 skos:exactMatch hgnc.symbol:20065 semapv:UnspecifiedMatching +OMIM:612492 USP30 skos:exactMatch hgnc.symbol:USP30 semapv:UnspecifiedMatching +OMIM:612492 USP30 skos:exactMatch ncbigene:84749 semapv:UnspecifiedMatching +OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:27786 semapv:UnspecifiedMatching +OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:CNPY1 semapv:UnspecifiedMatching +OMIM:612493 CNPY1 skos:exactMatch ncbigene:285888 semapv:UnspecifiedMatching +OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:25540 semapv:UnspecifiedMatching +OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:ARHGEF10L semapv:UnspecifiedMatching +OMIM:612494 ARHGEF10L skos:exactMatch ncbigene:55160 semapv:UnspecifiedMatching +OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:21381 semapv:UnspecifiedMatching +OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:UBE3D semapv:UnspecifiedMatching +OMIM:612495 UBE3D skos:exactMatch ncbigene:90025 semapv:UnspecifiedMatching +OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:26604 semapv:UnspecifiedMatching +OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:ARHGEF19 semapv:UnspecifiedMatching +OMIM:612496 ARHGEF19 skos:exactMatch ncbigene:128272 semapv:UnspecifiedMatching +OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:30728 semapv:UnspecifiedMatching +OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:NSA2 semapv:UnspecifiedMatching +OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch ncbigene:10412 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch UMLS:C1426678 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:20093 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:ADSS1 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch ncbigene:122622 semapv:UnspecifiedMatching +OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:30217 semapv:UnspecifiedMatching +OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:DIMT1 semapv:UnspecifiedMatching +OMIM:612499 DIMT1 skos:exactMatch ncbigene:27292 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch UMLS:C1426628 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:20038 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:DDX52 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch ncbigene:11056 semapv:UnspecifiedMatching +OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:19248 semapv:UnspecifiedMatching +OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:UBE2Q2 semapv:UnspecifiedMatching +OMIM:612501 UBE2Q2 skos:exactMatch ncbigene:92912 semapv:UnspecifiedMatching +OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:17213 semapv:UnspecifiedMatching +OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:COLEC11 semapv:UnspecifiedMatching +OMIM:612502 COLEC11 skos:exactMatch ncbigene:78989 semapv:UnspecifiedMatching +OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:35 semapv:UnspecifiedMatching +OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:ABCA5 semapv:UnspecifiedMatching +OMIM:612503 ABCA5 skos:exactMatch ncbigene:23461 semapv:UnspecifiedMatching +OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:36 semapv:UnspecifiedMatching +OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:ABCA6 semapv:UnspecifiedMatching +OMIM:612504 ABCA6 skos:exactMatch ncbigene:23460 semapv:UnspecifiedMatching +OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:38 semapv:UnspecifiedMatching +OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:ABCA8 semapv:UnspecifiedMatching +OMIM:612505 ABCA8 skos:exactMatch ncbigene:10351 semapv:UnspecifiedMatching +OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:19907 semapv:UnspecifiedMatching +OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:UBE2R2 semapv:UnspecifiedMatching +OMIM:612506 UBE2R2 skos:exactMatch ncbigene:54926 semapv:UnspecifiedMatching +OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:39 semapv:UnspecifiedMatching +OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:ABCA9 semapv:UnspecifiedMatching +OMIM:612507 ABCA9 skos:exactMatch ncbigene:10350 semapv:UnspecifiedMatching +OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:30 semapv:UnspecifiedMatching +OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:ABCA10 semapv:UnspecifiedMatching +OMIM:612508 ABCA10 skos:exactMatch ncbigene:10349 semapv:UnspecifiedMatching +OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:52 semapv:UnspecifiedMatching +OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:ABCC10 semapv:UnspecifiedMatching +OMIM:612509 ABCC10 skos:exactMatch ncbigene:89845 semapv:UnspecifiedMatching +OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:71 semapv:UnspecifiedMatching +OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:ABCF2 semapv:UnspecifiedMatching +OMIM:612510 ABCF2 skos:exactMatch ncbigene:10061 semapv:UnspecifiedMatching +OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:31488 semapv:UnspecifiedMatching +OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:MIR101-1 semapv:UnspecifiedMatching +OMIM:612511 MIRN101-1 skos:exactMatch ncbigene:406893 semapv:UnspecifiedMatching +OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:31489 semapv:UnspecifiedMatching +OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:MIR101-2 semapv:UnspecifiedMatching +OMIM:612512 MIRN101-2 skos:exactMatch ncbigene:406894 semapv:UnspecifiedMatching +OMIM:612513 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch MONDO:0012916 semapv:UnspecifiedMatching +OMIM:612514 specific language impairment 4 skos:exactMatch MONDO:0012917 semapv:UnspecifiedMatching +OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:25784 semapv:UnspecifiedMatching +OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:DCAF17 semapv:UnspecifiedMatching +OMIM:612515 DCAF17 skos:exactMatch ncbigene:80067 semapv:UnspecifiedMatching +OMIM:612516 UACA skos:exactMatch hgnc.symbol:15947 semapv:UnspecifiedMatching +OMIM:612516 UACA skos:exactMatch hgnc.symbol:UACA semapv:UnspecifiedMatching +OMIM:612516 UACA skos:exactMatch ncbigene:55075 semapv:UnspecifiedMatching +OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:20188 semapv:UnspecifiedMatching +OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:DNAAF2 semapv:UnspecifiedMatching +OMIM:612517 DNAAF2 skos:exactMatch ncbigene:55172 semapv:UnspecifiedMatching +OMIM:612518 ciliary dyskinesia, primary, 10 skos:exactMatch MONDO:0012918 semapv:UnspecifiedMatching +OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:15621 semapv:UnspecifiedMatching +OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:SLC35D3 semapv:UnspecifiedMatching +OMIM:612519 SLC35D3 skos:exactMatch ncbigene:340146 semapv:UnspecifiedMatching +OMIM:612520 iia 1 diabetes mellitus 20 skos:exactMatch MONDO:0012919 semapv:UnspecifiedMatching +OMIM:612520 iia 1 diabetes mellitus 20 skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching +OMIM:612521 iia 1 diabetes mellitus 21 skos:exactMatch MONDO:0012920 semapv:UnspecifiedMatching +OMIM:612521 iia 1 diabetes mellitus 21 skos:exactMatch UMLS:C2675865 semapv:UnspecifiedMatching +OMIM:612522 iia 1 diabetes mellitus 22 skos:exactMatch MONDO:0012921 semapv:UnspecifiedMatching +OMIM:612522 iia 1 diabetes mellitus 22 skos:exactMatch UMLS:C2675864 semapv:UnspecifiedMatching +OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:25721 semapv:UnspecifiedMatching +OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:IQCH semapv:UnspecifiedMatching +OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch ncbigene:64799 semapv:UnspecifiedMatching +OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:21300 semapv:UnspecifiedMatching +OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:RPP21 semapv:UnspecifiedMatching +OMIM:612524 RPP21 skos:exactMatch ncbigene:79897 semapv:UnspecifiedMatching +OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch MONDO:0012922 semapv:UnspecifiedMatching +OMIM:612526 lipodystrophy, congenital generalized, iia 3 skos:exactMatch MONDO:0012923 semapv:UnspecifiedMatching +OMIM:612527 diamond-blackfan anemia 4 skos:exactMatch MONDO:0012924 semapv:UnspecifiedMatching +OMIM:612528 diamond-blackfan anemia 5 skos:exactMatch MONDO:0012925 semapv:UnspecifiedMatching +OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 skos:exactMatch MONDO:0012926 semapv:UnspecifiedMatching +OMIM:612530 chromosome 1q41-q42 deletion syndrome skos:exactMatch MONDO:0012927 semapv:UnspecifiedMatching +OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:20854 semapv:UnspecifiedMatching +OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:THAP2 semapv:UnspecifiedMatching +OMIM:612531 THAP2 skos:exactMatch ncbigene:83591 semapv:UnspecifiedMatching +OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:20855 semapv:UnspecifiedMatching +OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:THAP3 semapv:UnspecifiedMatching +OMIM:612532 THAP3 skos:exactMatch ncbigene:90326 semapv:UnspecifiedMatching +OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:23187 semapv:UnspecifiedMatching +OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:THAP4 semapv:UnspecifiedMatching +OMIM:612533 THAP4 skos:exactMatch ncbigene:51078 semapv:UnspecifiedMatching +OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:23188 semapv:UnspecifiedMatching +OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:THAP5 semapv:UnspecifiedMatching +OMIM:612534 THAP5 skos:exactMatch ncbigene:168451 semapv:UnspecifiedMatching +OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:23189 semapv:UnspecifiedMatching +OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:THAP6 semapv:UnspecifiedMatching +OMIM:612535 THAP6 skos:exactMatch ncbigene:152815 semapv:UnspecifiedMatching +OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:23191 semapv:UnspecifiedMatching +OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:THAP8 semapv:UnspecifiedMatching +OMIM:612536 THAP8 skos:exactMatch ncbigene:199745 semapv:UnspecifiedMatching +OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:23192 semapv:UnspecifiedMatching +OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:THAP9 semapv:UnspecifiedMatching +OMIM:612537 THAP9 skos:exactMatch ncbigene:79725 semapv:UnspecifiedMatching +OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:23193 semapv:UnspecifiedMatching +OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:THAP10 semapv:UnspecifiedMatching +OMIM:612538 THAP10 skos:exactMatch ncbigene:56906 semapv:UnspecifiedMatching +OMIM:612539 spastic paraplegia 42, autosomal dominant skos:exactMatch MONDO:0012928 semapv:UnspecifiedMatching +OMIM:612540 congenital myopathy 12 skos:exactMatch MONDO:0012929 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch MONDO:0012930 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:178503 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:331176 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching +OMIM:612543 USP36 skos:exactMatch hgnc.symbol:20062 semapv:UnspecifiedMatching +OMIM:612543 USP36 skos:exactMatch hgnc.symbol:USP36 semapv:UnspecifiedMatching +OMIM:612543 USP36 skos:exactMatch ncbigene:57602 semapv:UnspecifiedMatching +OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:19195 semapv:UnspecifiedMatching +OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:ABLIM2 semapv:UnspecifiedMatching +OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching +OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:18289 semapv:UnspecifiedMatching +OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:ABHD11-AS1 semapv:UnspecifiedMatching +OMIM:612545 WBSCR26 skos:exactMatch ncbigene:171022 semapv:UnspecifiedMatching +OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:19068 semapv:UnspecifiedMatching +OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:METTL27 semapv:UnspecifiedMatching +OMIM:612546 METTL27 skos:exactMatch ncbigene:155368 semapv:UnspecifiedMatching +OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:23018 semapv:UnspecifiedMatching +OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:TMEM270 semapv:UnspecifiedMatching +OMIM:612547 TMEM270 skos:exactMatch ncbigene:135886 semapv:UnspecifiedMatching +OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:19017 semapv:UnspecifiedMatching +OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:TRIM50 semapv:UnspecifiedMatching +OMIM:612548 TRIM50 skos:exactMatch ncbigene:135892 semapv:UnspecifiedMatching +OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:18162 semapv:UnspecifiedMatching +OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:TRIM73 semapv:UnspecifiedMatching +OMIM:612549 TRIM73 skos:exactMatch ncbigene:375593 semapv:UnspecifiedMatching +OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:17453 semapv:UnspecifiedMatching +OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:TRIM74 semapv:UnspecifiedMatching +OMIM:612550 TRIM74 skos:exactMatch ncbigene:378108 semapv:UnspecifiedMatching +OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch MONDO:0012931 semapv:UnspecifiedMatching +OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:20721 semapv:UnspecifiedMatching +OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:ZBED4 semapv:UnspecifiedMatching +OMIM:612552 ZBED4 skos:exactMatch ncbigene:9889 semapv:UnspecifiedMatching +OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:31784 semapv:UnspecifiedMatching +OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:MIR370 semapv:UnspecifiedMatching +OMIM:612553 MIR370 skos:exactMatch ncbigene:442915 semapv:UnspecifiedMatching +OMIM:612554 myopia 16, autosomal dominant skos:exactMatch MONDO:0012932 semapv:UnspecifiedMatching +OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch MONDO:0012933 semapv:UnspecifiedMatching +OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch MONDO:0012934 semapv:UnspecifiedMatching +OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch MONDO:0012935 semapv:UnspecifiedMatching +OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch MONDO:0012936 semapv:UnspecifiedMatching +OMIM:612561 diamond-blackfan anemia 6 skos:exactMatch MONDO:0012937 semapv:UnspecifiedMatching +OMIM:612562 diamond-blackfan anemia 7 skos:exactMatch MONDO:0012938 semapv:UnspecifiedMatching +OMIM:612563 diamond-blackfan anemia 8 skos:exactMatch MONDO:0012939 semapv:UnspecifiedMatching +OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:24110 semapv:UnspecifiedMatching +OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:TXNDC9 semapv:UnspecifiedMatching +OMIM:612564 TXNDC9 skos:exactMatch ncbigene:10190 semapv:UnspecifiedMatching +OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:18370 semapv:UnspecifiedMatching +OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:RAB1B semapv:UnspecifiedMatching +OMIM:612565 RAB1B skos:exactMatch ncbigene:81876 semapv:UnspecifiedMatching +OMIM:612566 inflammatory bowel disease 24 skos:exactMatch MONDO:0012940 semapv:UnspecifiedMatching +OMIM:612567 inflammatory bowel disease 25, autosomal recessive skos:exactMatch MONDO:0012941 semapv:UnspecifiedMatching +OMIM:612568 SPIC skos:exactMatch hgnc.symbol:29549 semapv:UnspecifiedMatching +OMIM:612568 SPIC skos:exactMatch hgnc.symbol:SPIC semapv:UnspecifiedMatching +OMIM:612568 SPIC skos:exactMatch ncbigene:121599 semapv:UnspecifiedMatching +OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:24236 semapv:UnspecifiedMatching +OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:CCAR1 semapv:UnspecifiedMatching +OMIM:612569 CCAR1 skos:exactMatch ncbigene:55749 semapv:UnspecifiedMatching +OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:3604 semapv:UnspecifiedMatching +OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:FBN2 semapv:UnspecifiedMatching +OMIM:612570 FBN2 skos:exactMatch ncbigene:2201 semapv:UnspecifiedMatching +OMIM:612571 lung cancer susceptibility 3 skos:exactMatch MONDO:0012942 semapv:UnspecifiedMatching +OMIM:612572 retinitis pigmentosa 46 skos:exactMatch MONDO:0012943 semapv:UnspecifiedMatching +OMIM:612572 retinitis pigmentosa 46 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:612572 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching +OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome skos:exactMatch MONDO:0012944 semapv:UnspecifiedMatching +OMIM:612577 amyotrophic lateral sclerosis 11 skos:exactMatch MONDO:0012945 semapv:UnspecifiedMatching +OMIM:612580 intellectual developmental disorder, autosomal dominant 3 skos:exactMatch MONDO:0012946 semapv:UnspecifiedMatching +OMIM:612581 intellectual developmental disorder, autosomal dominant 4 skos:exactMatch MONDO:0012947 semapv:UnspecifiedMatching +OMIM:612582 chromosome 6pter-p24 deletion syndrome skos:exactMatch MONDO:0012948 semapv:UnspecifiedMatching +OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:30621 semapv:UnspecifiedMatching +OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:SPNS1 semapv:UnspecifiedMatching +OMIM:612583 SPNS1 skos:exactMatch ncbigene:83985 semapv:UnspecifiedMatching +OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:26992 semapv:UnspecifiedMatching +OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:SPNS2 semapv:UnspecifiedMatching +OMIM:612584 SPNS2 skos:exactMatch ncbigene:124976 semapv:UnspecifiedMatching +OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:24308 semapv:UnspecifiedMatching +OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:CLPTM1L semapv:UnspecifiedMatching +OMIM:612585 CLPTM1L skos:exactMatch ncbigene:81037 semapv:UnspecifiedMatching +OMIM:612586 aneurysm, intracranial berry, 9 skos:exactMatch MONDO:0012949 semapv:UnspecifiedMatching +OMIM:612587 aneurysm, intracranial berry, 10 skos:exactMatch MONDO:0012950 semapv:UnspecifiedMatching +OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:16863 semapv:UnspecifiedMatching +OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:BCLAF1 semapv:UnspecifiedMatching +OMIM:612588 BCLAF1 skos:exactMatch ncbigene:9774 semapv:UnspecifiedMatching +OMIM:612589 colorectal cancer, susceptibility to, 8 skos:exactMatch MONDO:0012951 semapv:UnspecifiedMatching +OMIM:612590 colorectal cancer, susceptibility to, 9 skos:exactMatch MONDO:0012952 semapv:UnspecifiedMatching +OMIM:612591 colorectal cancer, susceptibility to, 10 skos:exactMatch MONDO:0012953 semapv:UnspecifiedMatching +OMIM:612592 colorectal cancer, susceptibility to, 11 skos:exactMatch MONDO:0012954 semapv:UnspecifiedMatching +OMIM:612593 lung cancer susceptibility 4 skos:exactMatch MONDO:0012955 semapv:UnspecifiedMatching +OMIM:612594 multiple sclerosis, susceptibility to, 2 skos:exactMatch MONDO:0012956 semapv:UnspecifiedMatching +OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch MONDO:0012957 semapv:UnspecifiedMatching +OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch UMLS:C2675477 semapv:UnspecifiedMatching +OMIM:612596 multiple sclerosis, susceptibility to, 4 skos:exactMatch MONDO:0012958 semapv:UnspecifiedMatching +OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:24313 semapv:UnspecifiedMatching +OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:CRTAM semapv:UnspecifiedMatching +OMIM:612597 CRTAM skos:exactMatch ncbigene:56253 semapv:UnspecifiedMatching +OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:10056 semapv:UnspecifiedMatching +OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:RNF11 semapv:UnspecifiedMatching +OMIM:612598 RNF11 skos:exactMatch ncbigene:26994 semapv:UnspecifiedMatching +OMIM:612599 psoriasis 11, susceptibility to skos:exactMatch MONDO:0012959 semapv:UnspecifiedMatching +OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:18485 semapv:UnspecifiedMatching +OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:MRM3 semapv:UnspecifiedMatching +OMIM:612600 RNMTL1 skos:exactMatch ncbigene:55178 semapv:UnspecifiedMatching +OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:16449 semapv:UnspecifiedMatching +OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:RFPL4A semapv:UnspecifiedMatching +OMIM:612601 RFPL4A skos:exactMatch ncbigene:342931 semapv:UnspecifiedMatching +OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:24303 semapv:UnspecifiedMatching +OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:RBM15B semapv:UnspecifiedMatching +OMIM:612602 RBM15B skos:exactMatch ncbigene:29890 semapv:UnspecifiedMatching +OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:29459 semapv:UnspecifiedMatching +OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:LCE1A semapv:UnspecifiedMatching +OMIM:612603 LCE1A skos:exactMatch ncbigene:353131 semapv:UnspecifiedMatching +OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:16611 semapv:UnspecifiedMatching +OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:LCE1B semapv:UnspecifiedMatching +OMIM:612604 LCE1B skos:exactMatch ncbigene:353132 semapv:UnspecifiedMatching +OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:29464 semapv:UnspecifiedMatching +OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:LCE1C semapv:UnspecifiedMatching +OMIM:612605 LCE1C skos:exactMatch ncbigene:353133 semapv:UnspecifiedMatching +OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:29465 semapv:UnspecifiedMatching +OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:LCE1D semapv:UnspecifiedMatching +OMIM:612606 LCE1D skos:exactMatch ncbigene:353134 semapv:UnspecifiedMatching +OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:29466 semapv:UnspecifiedMatching +OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:LCE1E semapv:UnspecifiedMatching +OMIM:612607 LCE1E skos:exactMatch ncbigene:353135 semapv:UnspecifiedMatching +OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:29467 semapv:UnspecifiedMatching +OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:LCE1F semapv:UnspecifiedMatching +OMIM:612608 LCE1F skos:exactMatch ncbigene:353137 semapv:UnspecifiedMatching +OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:29469 semapv:UnspecifiedMatching +OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:LCE2A semapv:UnspecifiedMatching +OMIM:612609 LCE2A skos:exactMatch ncbigene:353139 semapv:UnspecifiedMatching +OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:16610 semapv:UnspecifiedMatching +OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:LCE2B semapv:UnspecifiedMatching +OMIM:612610 LCE2B skos:exactMatch ncbigene:26239 semapv:UnspecifiedMatching +OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:29460 semapv:UnspecifiedMatching +OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:LCE2C semapv:UnspecifiedMatching +OMIM:612611 LCE2C skos:exactMatch ncbigene:353140 semapv:UnspecifiedMatching +OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:16518 semapv:UnspecifiedMatching +OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:LCE2D semapv:UnspecifiedMatching +OMIM:612612 LCE2D skos:exactMatch ncbigene:353141 semapv:UnspecifiedMatching +OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:29461 semapv:UnspecifiedMatching +OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:LCE3A semapv:UnspecifiedMatching +OMIM:612613 LCE3A skos:exactMatch ncbigene:353142 semapv:UnspecifiedMatching +OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:29462 semapv:UnspecifiedMatching +OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:LCE3B semapv:UnspecifiedMatching +OMIM:612614 LCE3B skos:exactMatch ncbigene:353143 semapv:UnspecifiedMatching +OMIM:612615 LCE3C skos:exactMatch UMLS:C1537542 semapv:UnspecifiedMatching +OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:16612 semapv:UnspecifiedMatching +OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:LCE3C semapv:UnspecifiedMatching +OMIM:612615 LCE3C skos:exactMatch ncbigene:353144 semapv:UnspecifiedMatching +OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:16615 semapv:UnspecifiedMatching +OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:LCE3D semapv:UnspecifiedMatching +OMIM:612616 LCE3D skos:exactMatch ncbigene:84648 semapv:UnspecifiedMatching +OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:29463 semapv:UnspecifiedMatching +OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:LCE3E semapv:UnspecifiedMatching +OMIM:612617 LCE3E skos:exactMatch ncbigene:353145 semapv:UnspecifiedMatching +OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:16613 semapv:UnspecifiedMatching +OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:LCE4A semapv:UnspecifiedMatching +OMIM:612618 LCE4A skos:exactMatch ncbigene:199834 semapv:UnspecifiedMatching +OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:16614 semapv:UnspecifiedMatching +OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:LCE5A semapv:UnspecifiedMatching +OMIM:612619 LCE5A skos:exactMatch ncbigene:254910 semapv:UnspecifiedMatching +OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:20796 semapv:UnspecifiedMatching +OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:RASSF6 semapv:UnspecifiedMatching +OMIM:612620 RASSF6 skos:exactMatch ncbigene:166824 semapv:UnspecifiedMatching +OMIM:612621 intellectual developmental disorder, autosomal dominant 5 skos:exactMatch MONDO:0012960 semapv:UnspecifiedMatching +OMIM:612622 iia 1 diabetes mellitus 23 skos:exactMatch MONDO:0012961 semapv:UnspecifiedMatching +OMIM:612622 iia 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching +OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch MONDO:0012962 semapv:UnspecifiedMatching +OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch MONDO:0012963 semapv:UnspecifiedMatching +OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:23038 semapv:UnspecifiedMatching +OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:LMBRD1 semapv:UnspecifiedMatching +OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch ncbigene:55788 semapv:UnspecifiedMatching +OMIM:612626 chromosome 15q26-qter deletion syndrome skos:exactMatch MONDO:0012964 semapv:UnspecifiedMatching +OMIM:612627 seizures, benign familial infantile, 4 skos:exactMatch MONDO:0012965 semapv:UnspecifiedMatching +OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch MONDO:0012966 semapv:UnspecifiedMatching +OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to skos:exactMatch MONDO:0012967 semapv:UnspecifiedMatching +OMIM:612632 usher syndrome, iia 1h skos:exactMatch MONDO:0012968 semapv:UnspecifiedMatching +OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch MONDO:0012969 semapv:UnspecifiedMatching +OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch MONDO:0012970 semapv:UnspecifiedMatching +OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch MONDO:0012971 semapv:UnspecifiedMatching +OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:26582 semapv:UnspecifiedMatching +OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:UNC80 semapv:UnspecifiedMatching +OMIM:612636 UNC80 skos:exactMatch ncbigene:285175 semapv:UnspecifiedMatching +OMIM:612637 febrile seizures, familial, 10 skos:exactMatch MONDO:0012972 semapv:UnspecifiedMatching +OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:20371 semapv:UnspecifiedMatching +OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:NDUFA11 semapv:UnspecifiedMatching +OMIM:612638 NDUFA11 skos:exactMatch ncbigene:126328 semapv:UnspecifiedMatching +OMIM:612639 inflammatory bowel disease 26 skos:exactMatch MONDO:0012973 semapv:UnspecifiedMatching +OMIM:612640 TBATA skos:exactMatch hgnc.symbol:23511 semapv:UnspecifiedMatching +OMIM:612640 TBATA skos:exactMatch hgnc.symbol:TBATA semapv:UnspecifiedMatching +OMIM:612640 TBATA skos:exactMatch ncbigene:219793 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C1412402 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017274 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017275 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017276 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017277 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch UMLS:C4017278 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:492 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:ANK1 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch ncbigene:286 semapv:UnspecifiedMatching +OMIM:612642 deafness, autosomal dominant 59 skos:exactMatch MONDO:0012974 semapv:UnspecifiedMatching +OMIM:612643 deafness, autosomal dominant 3b skos:exactMatch MONDO:0012975 semapv:UnspecifiedMatching +OMIM:612644 deafness, autosomal dominant 2b skos:exactMatch MONDO:0012976 semapv:UnspecifiedMatching +OMIM:612645 deafness, autosomal recessive 1b skos:exactMatch MONDO:0012977 semapv:UnspecifiedMatching +OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:30215 semapv:UnspecifiedMatching +OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:MACC1 semapv:UnspecifiedMatching +OMIM:612646 MACC1 skos:exactMatch ncbigene:346389 semapv:UnspecifiedMatching +OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:21558 semapv:UnspecifiedMatching +OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:RSPH4A semapv:UnspecifiedMatching +OMIM:612647 RSPH4A skos:exactMatch ncbigene:345895 semapv:UnspecifiedMatching +OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:21057 semapv:UnspecifiedMatching +OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:RSPH9 semapv:UnspecifiedMatching +OMIM:612648 RSPH9 skos:exactMatch ncbigene:221421 semapv:UnspecifiedMatching +OMIM:612649 ciliary dyskinesia, primary, 11 skos:exactMatch MONDO:0012978 semapv:UnspecifiedMatching +OMIM:612650 ciliary dyskinesia, primary, 12 skos:exactMatch MONDO:0012979 semapv:UnspecifiedMatching +OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch MONDO:0012980 semapv:UnspecifiedMatching +OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch Orphanet:199332 semapv:UnspecifiedMatching +OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching +OMIM:612653 spherocytosis, iia 4 skos:exactMatch MONDO:0012981 semapv:UnspecifiedMatching +OMIM:612654 TCHP skos:exactMatch hgnc.symbol:28135 semapv:UnspecifiedMatching +OMIM:612654 TCHP skos:exactMatch hgnc.symbol:TCHP semapv:UnspecifiedMatching +OMIM:612654 TCHP skos:exactMatch ncbigene:84260 semapv:UnspecifiedMatching +OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:21066 semapv:UnspecifiedMatching +OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:TBC1D7 semapv:UnspecifiedMatching +OMIM:612655 TBC1D7 skos:exactMatch ncbigene:51256 semapv:UnspecifiedMatching +OMIM:612656 episodic ataxia, iia 6 skos:exactMatch MONDO:0012982 semapv:UnspecifiedMatching +OMIM:612657 cone-rod dystrophy 12 skos:exactMatch MONDO:0012983 semapv:UnspecifiedMatching +OMIM:612657 cone-rod dystrophy 12 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +OMIM:612657 cone-rod dystrophy 12 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching +OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:17949 semapv:UnspecifiedMatching +OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:TJAP1 semapv:UnspecifiedMatching +OMIM:612658 TJAP1 skos:exactMatch ncbigene:93643 semapv:UnspecifiedMatching +OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:21478 semapv:UnspecifiedMatching +OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:RFX6 semapv:UnspecifiedMatching +OMIM:612659 RFX6 skos:exactMatch ncbigene:222546 semapv:UnspecifiedMatching +OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:25777 semapv:UnspecifiedMatching +OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:RFX7 semapv:UnspecifiedMatching +OMIM:612660 RFX7 skos:exactMatch ncbigene:64864 semapv:UnspecifiedMatching +OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:25522 semapv:UnspecifiedMatching +OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:WRAP53 semapv:UnspecifiedMatching +OMIM:612661 WRAP53 skos:exactMatch ncbigene:55135 semapv:UnspecifiedMatching +OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:25694 semapv:UnspecifiedMatching +OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:TBC1D15 semapv:UnspecifiedMatching +OMIM:612662 TBC1D15 skos:exactMatch ncbigene:64786 semapv:UnspecifiedMatching +OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:34024 semapv:UnspecifiedMatching +OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:TIFAB semapv:UnspecifiedMatching +OMIM:612663 TIFAB skos:exactMatch ncbigene:497189 semapv:UnspecifiedMatching +OMIM:612664 RERG skos:exactMatch hgnc.symbol:15980 semapv:UnspecifiedMatching +OMIM:612664 RERG skos:exactMatch hgnc.symbol:RERG semapv:UnspecifiedMatching +OMIM:612664 RERG skos:exactMatch ncbigene:85004 semapv:UnspecifiedMatching +OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:30722 semapv:UnspecifiedMatching +OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:TEX101 semapv:UnspecifiedMatching +OMIM:612665 TEX101 skos:exactMatch ncbigene:83639 semapv:UnspecifiedMatching +OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:29043 semapv:UnspecifiedMatching +OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:DSTYK semapv:UnspecifiedMatching +OMIM:612666 DSTYK skos:exactMatch ncbigene:25778 semapv:UnspecifiedMatching +OMIM:612667 HJURP skos:exactMatch hgnc.symbol:25444 semapv:UnspecifiedMatching +OMIM:612667 HJURP skos:exactMatch hgnc.symbol:HJURP semapv:UnspecifiedMatching +OMIM:612667 HJURP skos:exactMatch ncbigene:55355 semapv:UnspecifiedMatching +OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:18875 semapv:UnspecifiedMatching +OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:TAS2R43 semapv:UnspecifiedMatching +OMIM:612668 TAS2R43 skos:exactMatch ncbigene:259289 semapv:UnspecifiedMatching +OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:19113 semapv:UnspecifiedMatching +OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:TAS2R31 semapv:UnspecifiedMatching +OMIM:612669 TAS2R31 skos:exactMatch ncbigene:259290 semapv:UnspecifiedMatching +OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch MONDO:0044277 semapv:UnspecifiedMatching +OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:9759 semapv:UnspecifiedMatching +OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:RAB10 semapv:UnspecifiedMatching +OMIM:612672 RAB10 skos:exactMatch ncbigene:10890 semapv:UnspecifiedMatching +OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:16524 semapv:UnspecifiedMatching +OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:RAB14 semapv:UnspecifiedMatching +OMIM:612673 RAB14 skos:exactMatch ncbigene:51552 semapv:UnspecifiedMatching +OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch MONDO:0012984 semapv:UnspecifiedMatching +OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch Orphanet:171848 semapv:UnspecifiedMatching +OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching +OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:32572 semapv:UnspecifiedMatching +OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:SCARNA15 semapv:UnspecifiedMatching +OMIM:612675 SCARNA15 skos:exactMatch ncbigene:677778 semapv:UnspecifiedMatching +OMIM:612676 QDPR skos:exactMatch hgnc.symbol:9752 semapv:UnspecifiedMatching +OMIM:612676 QDPR skos:exactMatch hgnc.symbol:QDPR semapv:UnspecifiedMatching +OMIM:612676 QDPR skos:exactMatch ncbigene:5860 semapv:UnspecifiedMatching +OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:28894 semapv:UnspecifiedMatching +OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:PYHIN1 semapv:UnspecifiedMatching +OMIM:612677 PYHIN1 skos:exactMatch ncbigene:149628 semapv:UnspecifiedMatching +OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:11967 semapv:UnspecifiedMatching +OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:CELF3 semapv:UnspecifiedMatching +OMIM:612678 CELF3 skos:exactMatch ncbigene:11189 semapv:UnspecifiedMatching +OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:14015 semapv:UnspecifiedMatching +OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:CELF4 semapv:UnspecifiedMatching +OMIM:612679 CELF4 skos:exactMatch ncbigene:56853 semapv:UnspecifiedMatching +OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:14058 semapv:UnspecifiedMatching +OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:CELF5 semapv:UnspecifiedMatching +OMIM:612680 CELF5 skos:exactMatch ncbigene:60680 semapv:UnspecifiedMatching +OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:14059 semapv:UnspecifiedMatching +OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:CELF6 semapv:UnspecifiedMatching +OMIM:612681 CELF6 skos:exactMatch ncbigene:60677 semapv:UnspecifiedMatching +OMIM:612682 DRAXIN skos:exactMatch UMLS:C1823801 semapv:UnspecifiedMatching +OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:25054 semapv:UnspecifiedMatching +OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:DRAXIN semapv:UnspecifiedMatching +OMIM:612682 DRAXIN skos:exactMatch ncbigene:374946 semapv:UnspecifiedMatching +OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:14293 semapv:UnspecifiedMatching +OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:TEKT3 semapv:UnspecifiedMatching +OMIM:612683 TEKT3 skos:exactMatch ncbigene:64518 semapv:UnspecifiedMatching +OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:23176 semapv:UnspecifiedMatching +OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:ISM2 semapv:UnspecifiedMatching +OMIM:612684 ISM2 skos:exactMatch ncbigene:145501 semapv:UnspecifiedMatching +OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:29307 semapv:UnspecifiedMatching +OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:CAMSAP3 semapv:UnspecifiedMatching +OMIM:612685 CAMSAP3 skos:exactMatch ncbigene:57662 semapv:UnspecifiedMatching +OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:27049 semapv:UnspecifiedMatching +OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:PLEKHA7 semapv:UnspecifiedMatching +OMIM:612686 PLEKHA7 skos:exactMatch ncbigene:144100 semapv:UnspecifiedMatching +OMIM:612687 RGMB skos:exactMatch hgnc.symbol:26896 semapv:UnspecifiedMatching +OMIM:612687 RGMB skos:exactMatch hgnc.symbol:RGMB semapv:UnspecifiedMatching +OMIM:612687 RGMB skos:exactMatch ncbigene:285704 semapv:UnspecifiedMatching +OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:26661 semapv:UnspecifiedMatching +OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:RNF168 semapv:UnspecifiedMatching +OMIM:612688 RNF168 skos:exactMatch ncbigene:165918 semapv:UnspecifiedMatching +OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:11829 semapv:UnspecifiedMatching +OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:TJP3 semapv:UnspecifiedMatching +OMIM:612689 TJP3 skos:exactMatch ncbigene:27134 semapv:UnspecifiedMatching +OMIM:612690 spherocytosis, iia 5 skos:exactMatch MONDO:0012985 semapv:UnspecifiedMatching +OMIM:612691 polymicrogyria, bilateral temporooccipital skos:exactMatch MONDO:0012986 semapv:UnspecifiedMatching +OMIM:612692 agammaglobulinemia 6, autosomal recessive skos:exactMatch MONDO:0012987 semapv:UnspecifiedMatching +OMIM:612693 URM1 skos:exactMatch hgnc.symbol:28378 semapv:UnspecifiedMatching +OMIM:612693 URM1 skos:exactMatch hgnc.symbol:URM1 semapv:UnspecifiedMatching +OMIM:612693 URM1 skos:exactMatch ncbigene:81605 semapv:UnspecifiedMatching +OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:29590 semapv:UnspecifiedMatching +OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:CTU1 semapv:UnspecifiedMatching +OMIM:612694 CTU1 skos:exactMatch ncbigene:90353 semapv:UnspecifiedMatching +OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:12654 semapv:UnspecifiedMatching +OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:VTRNA1-1 semapv:UnspecifiedMatching +OMIM:612695 VTRNA1-1 skos:exactMatch ncbigene:56664 semapv:UnspecifiedMatching +OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:12655 semapv:UnspecifiedMatching +OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:VTRNA1-2 semapv:UnspecifiedMatching +OMIM:612696 VTRNA1-2 skos:exactMatch ncbigene:56663 semapv:UnspecifiedMatching +OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:12656 semapv:UnspecifiedMatching +OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:VTRNA1-3 semapv:UnspecifiedMatching +OMIM:612697 VTRNA1-3 skos:exactMatch ncbigene:56662 semapv:UnspecifiedMatching +OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:31558 semapv:UnspecifiedMatching +OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:MIR187 semapv:UnspecifiedMatching +OMIM:612698 MIR187 skos:exactMatch ncbigene:406963 semapv:UnspecifiedMatching +OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:29344 semapv:UnspecifiedMatching +OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:RIMBP3 semapv:UnspecifiedMatching +OMIM:612699 RIMBP3 skos:exactMatch ncbigene:85376 semapv:UnspecifiedMatching +OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:33891 semapv:UnspecifiedMatching +OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:RIMBP3B semapv:UnspecifiedMatching +OMIM:612700 RIMBP3B skos:exactMatch ncbigene:440804 semapv:UnspecifiedMatching +OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:33892 semapv:UnspecifiedMatching +OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:RIMBP3C semapv:UnspecifiedMatching +OMIM:612701 RIMBP3C skos:exactMatch ncbigene:150221 semapv:UnspecifiedMatching +OMIM:612702 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch MONDO:0012988 semapv:UnspecifiedMatching +OMIM:612703 microcephaly 7, primary, autosomal recessive skos:exactMatch MONDO:0012989 semapv:UnspecifiedMatching +OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:32414 semapv:UnspecifiedMatching +OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:RGPD1 semapv:UnspecifiedMatching +OMIM:612704 RGPD1 skos:exactMatch ncbigene:400966 semapv:UnspecifiedMatching +OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:32415 semapv:UnspecifiedMatching +OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:RGPD2 semapv:UnspecifiedMatching +OMIM:612705 RGPD2 skos:exactMatch ncbigene:729857 semapv:UnspecifiedMatching +OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:32416 semapv:UnspecifiedMatching +OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:RGPD3 semapv:UnspecifiedMatching +OMIM:612706 RGPD3 skos:exactMatch ncbigene:653489 semapv:UnspecifiedMatching +OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:32417 semapv:UnspecifiedMatching +OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:RGPD4 semapv:UnspecifiedMatching +OMIM:612707 RGPD4 skos:exactMatch ncbigene:285190 semapv:UnspecifiedMatching +OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:32418 semapv:UnspecifiedMatching +OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:RGPD5 semapv:UnspecifiedMatching +OMIM:612708 RGPD5 skos:exactMatch ncbigene:84220 semapv:UnspecifiedMatching +OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:32419 semapv:UnspecifiedMatching +OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:RGPD6 semapv:UnspecifiedMatching +OMIM:612709 RGPD6 skos:exactMatch ncbigene:729540 semapv:UnspecifiedMatching +OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:23218 semapv:UnspecifiedMatching +OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:GCC2 semapv:UnspecifiedMatching +OMIM:612711 GCC2 skos:exactMatch ncbigene:9648 semapv:UnspecifiedMatching +OMIM:612712 leber congenital amaurosis 13 skos:exactMatch MONDO:0012990 semapv:UnspecifiedMatching +OMIM:612713 kahrizi syndrome skos:exactMatch MONDO:0012991 semapv:UnspecifiedMatching +OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis skos:exactMatch MONDO:0012992 semapv:UnspecifiedMatching +OMIM:612715 dyschromatosis universalis hereditaria 2 skos:exactMatch MONDO:0012993 semapv:UnspecifiedMatching +OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 semapv:UnspecifiedMatching +OMIM:612717 myopia 15, autosomal dominant skos:exactMatch MONDO:0012995 semapv:UnspecifiedMatching +OMIM:612718 cerebral creatine deficiency syndrome 3 skos:exactMatch MONDO:0012996 semapv:UnspecifiedMatching +OMIM:612719 PTS skos:exactMatch hgnc.symbol:9689 semapv:UnspecifiedMatching +OMIM:612719 PTS skos:exactMatch hgnc.symbol:PTS semapv:UnspecifiedMatching +OMIM:612719 PTS skos:exactMatch ncbigene:5805 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch UMLS:C1423751 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:15815 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:DHX29 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch ncbigene:54505 semapv:UnspecifiedMatching +OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:33762 semapv:UnspecifiedMatching +OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:RESP18 semapv:UnspecifiedMatching +OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch ncbigene:389075 semapv:UnspecifiedMatching +OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:20696 semapv:UnspecifiedMatching +OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:ELP3 semapv:UnspecifiedMatching +OMIM:612722 ELP3 skos:exactMatch ncbigene:55140 semapv:UnspecifiedMatching +OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:30506 semapv:UnspecifiedMatching +OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:PLEKHH2 semapv:UnspecifiedMatching +OMIM:612723 PLEKHH2 skos:exactMatch ncbigene:130271 semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch UMLS:C1412347 semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:417 semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:ALDOB semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch ncbigene:229 semapv:UnspecifiedMatching +OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:9323 semapv:UnspecifiedMatching +OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:PPP6C semapv:UnspecifiedMatching +OMIM:612725 PPP6C skos:exactMatch ncbigene:5537 semapv:UnspecifiedMatching +OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:20728 semapv:UnspecifiedMatching +OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:SLC9A8 semapv:UnspecifiedMatching +OMIM:612730 SLC9A8 skos:exactMatch ncbigene:23315 semapv:UnspecifiedMatching +OMIM:612731 faciocardiomelic syndrome skos:exactMatch MONDO:0012998 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch UMLS:C0342856 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch UMLS:C1413681 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch UMLS:C4017281 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch hgnc.symbol:2321 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch hgnc.symbol:CPOX semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch ncbigene:1371 semapv:UnspecifiedMatching +OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:19074 semapv:UnspecifiedMatching +OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:THOC5 semapv:UnspecifiedMatching +OMIM:612733 THOC5 skos:exactMatch ncbigene:8563 semapv:UnspecifiedMatching +OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:37183 semapv:UnspecifiedMatching +OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:TLX1NB semapv:UnspecifiedMatching +OMIM:612734 TLX1NB skos:exactMatch ncbigene:100038246 semapv:UnspecifiedMatching +OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:4951 semapv:UnspecifiedMatching +OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:HLA-DRB3 semapv:UnspecifiedMatching +OMIM:612735 HLA-DRB3 skos:exactMatch ncbigene:3125 semapv:UnspecifiedMatching +OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch MONDO:0012999 semapv:UnspecifiedMatching +OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching +OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching +OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:31401 semapv:UnspecifiedMatching +OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:SLC9C1 semapv:UnspecifiedMatching +OMIM:612738 SLC9A10 skos:exactMatch ncbigene:285335 semapv:UnspecifiedMatching +OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:14967 semapv:UnspecifiedMatching +OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:SPACA1 semapv:UnspecifiedMatching +OMIM:612739 SPACA1 skos:exactMatch ncbigene:81833 semapv:UnspecifiedMatching +OMIM:612740 porphyria, acute hepatic skos:exactMatch MONDO:0013000 semapv:UnspecifiedMatching +OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:18411 semapv:UnspecifiedMatching +OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:SNAI3 semapv:UnspecifiedMatching +OMIM:612741 SNAI3 skos:exactMatch ncbigene:333929 semapv:UnspecifiedMatching +OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:31590 semapv:UnspecifiedMatching +OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:MIR181A1 semapv:UnspecifiedMatching +OMIM:612742 MIR181A1 skos:exactMatch ncbigene:406995 semapv:UnspecifiedMatching +OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:31549 semapv:UnspecifiedMatching +OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:MIR181A2 semapv:UnspecifiedMatching +OMIM:612743 MIR181A2 skos:exactMatch ncbigene:406954 semapv:UnspecifiedMatching +OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:31550 semapv:UnspecifiedMatching +OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:MIR181B1 semapv:UnspecifiedMatching +OMIM:612744 MIR181B1 skos:exactMatch ncbigene:406955 semapv:UnspecifiedMatching +OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:31551 semapv:UnspecifiedMatching +OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:MIR181B2 semapv:UnspecifiedMatching +OMIM:612745 MIR181B2 skos:exactMatch ncbigene:406956 semapv:UnspecifiedMatching +OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:31552 semapv:UnspecifiedMatching +OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:MIR181C semapv:UnspecifiedMatching +OMIM:612746 MIR181C skos:exactMatch ncbigene:406957 semapv:UnspecifiedMatching +OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:17165 semapv:UnspecifiedMatching +OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:TFIP11 semapv:UnspecifiedMatching +OMIM:612747 TFIP11 skos:exactMatch ncbigene:24144 semapv:UnspecifiedMatching +OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:29613 semapv:UnspecifiedMatching +OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:LYZL2 semapv:UnspecifiedMatching +OMIM:612748 LYZL2 skos:exactMatch ncbigene:119180 semapv:UnspecifiedMatching +OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:16260 semapv:UnspecifiedMatching +OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:SPACA3 semapv:UnspecifiedMatching +OMIM:612749 SPACA3 skos:exactMatch ncbigene:124912 semapv:UnspecifiedMatching +OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:28387 semapv:UnspecifiedMatching +OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:LYZL4 semapv:UnspecifiedMatching +OMIM:612750 LYZL4 skos:exactMatch ncbigene:131375 semapv:UnspecifiedMatching +OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:29614 semapv:UnspecifiedMatching +OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:LYZL6 semapv:UnspecifiedMatching +OMIM:612751 LYZL6 skos:exactMatch ncbigene:57151 semapv:UnspecifiedMatching +OMIM:612752 CXXC5 skos:exactMatch hgnc.symbol:26943 semapv:UnspecifiedMatching +OMIM:612752 CXXC5 skos:exactMatch hgnc.symbol:CXXC5 semapv:UnspecifiedMatching +OMIM:612752 CXXC5 skos:exactMatch ncbigene:51523 semapv:UnspecifiedMatching +OMIM:612753 CCBE1 skos:exactMatch hgnc.symbol:29426 semapv:UnspecifiedMatching +OMIM:612753 CCBE1 skos:exactMatch hgnc.symbol:CCBE1 semapv:UnspecifiedMatching +OMIM:612753 CCBE1 skos:exactMatch ncbigene:147372 semapv:UnspecifiedMatching +OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:15987 semapv:UnspecifiedMatching +OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:GLRX3 semapv:UnspecifiedMatching +OMIM:612754 GLRX3 skos:exactMatch ncbigene:10539 semapv:UnspecifiedMatching +OMIM:612755 NAA25 skos:exactMatch UMLS:C1824351 semapv:UnspecifiedMatching +OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:25783 semapv:UnspecifiedMatching +OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:NAA25 semapv:UnspecifiedMatching +OMIM:612755 NAA25 skos:exactMatch ncbigene:80018 semapv:UnspecifiedMatching +OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:30707 semapv:UnspecifiedMatching +OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:TCAM1P semapv:UnspecifiedMatching +OMIM:612756 TCAM1 skos:exactMatch ncbigene:146771 semapv:UnspecifiedMatching +OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:24945 semapv:UnspecifiedMatching +OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:GPIHBP1 semapv:UnspecifiedMatching +OMIM:612757 GPIHBP1 skos:exactMatch ncbigene:338328 semapv:UnspecifiedMatching +OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:26887 semapv:UnspecifiedMatching +OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:TAPT1 semapv:UnspecifiedMatching +OMIM:612758 TAPT1 skos:exactMatch ncbigene:202018 semapv:UnspecifiedMatching +OMIM:612759 synesthesia skos:exactMatch MONDO:0013001 semapv:UnspecifiedMatching +OMIM:612760 SNRK skos:exactMatch hgnc.symbol:30598 semapv:UnspecifiedMatching +OMIM:612760 SNRK skos:exactMatch hgnc.symbol:SNRK semapv:UnspecifiedMatching +OMIM:612760 SNRK skos:exactMatch ncbigene:54861 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406767 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1425496 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1852150 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:18398 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:SMARCAD1 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch ncbigene:56916 semapv:UnspecifiedMatching +OMIM:612762 SUPT7L skos:exactMatch UMLS:C1823153 semapv:UnspecifiedMatching +OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:30632 semapv:UnspecifiedMatching +OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:SUPT7L semapv:UnspecifiedMatching +OMIM:612762 SUPT7L skos:exactMatch ncbigene:9913 semapv:UnspecifiedMatching +OMIM:612763 TADA1L skos:exactMatch hgnc.symbol:30631 semapv:UnspecifiedMatching +OMIM:612763 TADA1L skos:exactMatch hgnc.symbol:TADA1 semapv:UnspecifiedMatching +OMIM:612763 TADA1L skos:exactMatch ncbigene:117143 semapv:UnspecifiedMatching +OMIM:612764 ISY1 skos:exactMatch hgnc.symbol:29201 semapv:UnspecifiedMatching +OMIM:612764 ISY1 skos:exactMatch hgnc.symbol:ISY1 semapv:UnspecifiedMatching +OMIM:612764 ISY1 skos:exactMatch ncbigene:57461 semapv:UnspecifiedMatching +OMIM:612765 SFI1 skos:exactMatch UMLS:C1539759 semapv:UnspecifiedMatching +OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:29064 semapv:UnspecifiedMatching +OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:SFI1 semapv:UnspecifiedMatching +OMIM:612765 SFI1 skos:exactMatch ncbigene:9814 semapv:UnspecifiedMatching +OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:25008 semapv:UnspecifiedMatching +OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:BABAM1 semapv:UnspecifiedMatching +OMIM:612766 BABAM1 skos:exactMatch ncbigene:29086 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch UMLS:C1422629 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:14410 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:DHX36 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch ncbigene:170506 semapv:UnspecifiedMatching +OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:29280 semapv:UnspecifiedMatching +OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:FNIP2 semapv:UnspecifiedMatching +OMIM:612768 FNIP2 skos:exactMatch ncbigene:57600 semapv:UnspecifiedMatching +OMIM:612769 NEAT1 skos:exactMatch UMLS:C2681866 semapv:UnspecifiedMatching +OMIM:612769 NEAT1 skos:exactMatch hgnc.symbol:30815 semapv:UnspecifiedMatching +OMIM:612769 NEAT1 skos:exactMatch hgnc.symbol:NEAT1 semapv:UnspecifiedMatching +OMIM:612769 NEAT1 skos:exactMatch ncbigene:283131 semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch UMLS:C1418591 semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch hgnc.symbol:8999 semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch hgnc.symbol:PISD semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch ncbigene:23761 semapv:UnspecifiedMatching +OMIM:612771 DUOXA1 skos:exactMatch hgnc.symbol:26507 semapv:UnspecifiedMatching +OMIM:612771 DUOXA1 skos:exactMatch hgnc.symbol:DUOXA1 semapv:UnspecifiedMatching +OMIM:612771 DUOXA1 skos:exactMatch ncbigene:90527 semapv:UnspecifiedMatching +OMIM:612772 DUOXA2 skos:exactMatch hgnc.symbol:32698 semapv:UnspecifiedMatching +OMIM:612772 DUOXA2 skos:exactMatch hgnc.symbol:DUOXA2 semapv:UnspecifiedMatching +OMIM:612772 DUOXA2 skos:exactMatch ncbigene:405753 semapv:UnspecifiedMatching +OMIM:612773 BCAM skos:exactMatch hgnc.symbol:6722 semapv:UnspecifiedMatching +OMIM:612773 BCAM skos:exactMatch hgnc.symbol:BCAM semapv:UnspecifiedMatching +OMIM:612773 BCAM skos:exactMatch ncbigene:4059 semapv:UnspecifiedMatching +OMIM:612774 TAS2R46 skos:exactMatch hgnc.symbol:18877 semapv:UnspecifiedMatching +OMIM:612774 TAS2R46 skos:exactMatch hgnc.symbol:TAS2R46 semapv:UnspecifiedMatching +OMIM:612774 TAS2R46 skos:exactMatch ncbigene:259292 semapv:UnspecifiedMatching +OMIM:612775 cone-rod dystrophy 9 skos:exactMatch MONDO:0013002 semapv:UnspecifiedMatching +OMIM:612776 hypoglossia with situs inversus skos:exactMatch MONDO:0013003 semapv:UnspecifiedMatching +OMIM:612777 hypotonia, seizures, and precocious puberty skos:exactMatch MONDO:0013004 semapv:UnspecifiedMatching +OMIM:612778 SETD2 skos:exactMatch hgnc.symbol:18420 semapv:UnspecifiedMatching +OMIM:612778 SETD2 skos:exactMatch hgnc.symbol:SETD2 semapv:UnspecifiedMatching +OMIM:612778 SETD2 skos:exactMatch ncbigene:29072 semapv:UnspecifiedMatching +OMIM:612779 DPYD skos:exactMatch hgnc.symbol:3012 semapv:UnspecifiedMatching +OMIM:612779 DPYD skos:exactMatch hgnc.symbol:DPYD semapv:UnspecifiedMatching +OMIM:612779 DPYD skos:exactMatch ncbigene:1806 semapv:UnspecifiedMatching +OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance skos:exactMatch MONDO:0013005 semapv:UnspecifiedMatching +OMIM:612781 isolated growth hormone deficiency, iia 1b skos:exactMatch MONDO:0013006 semapv:UnspecifiedMatching +OMIM:612782 immunodeficiency 9 skos:exactMatch MONDO:0013007 semapv:UnspecifiedMatching +OMIM:612783 immunodeficiency 10 skos:exactMatch MONDO:0013008 semapv:UnspecifiedMatching +OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc.symbol:18418 semapv:UnspecifiedMatching +OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc.symbol:HYPK semapv:UnspecifiedMatching +OMIM:612784 huntingtin-interacting protein k skos:exactMatch ncbigene:25764 semapv:UnspecifiedMatching +OMIM:612785 megarbane-jalkh syndrome skos:exactMatch MONDO:0013009 semapv:UnspecifiedMatching +OMIM:612786 CCNY skos:exactMatch hgnc.symbol:23354 semapv:UnspecifiedMatching +OMIM:612786 CCNY skos:exactMatch hgnc.symbol:CCNY semapv:UnspecifiedMatching +OMIM:612786 CCNY skos:exactMatch ncbigene:219771 semapv:UnspecifiedMatching +OMIM:612787 PUS10 skos:exactMatch hgnc.symbol:26505 semapv:UnspecifiedMatching +OMIM:612787 PUS10 skos:exactMatch hgnc.symbol:PUS10 semapv:UnspecifiedMatching +OMIM:612787 PUS10 skos:exactMatch ncbigene:150962 semapv:UnspecifiedMatching +OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:20951 semapv:UnspecifiedMatching +OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:FOXQ1 semapv:UnspecifiedMatching +OMIM:612788 FOXQ1 skos:exactMatch ncbigene:94234 semapv:UnspecifiedMatching +OMIM:612789 deafness, autosomal recessive 71 skos:exactMatch MONDO:0013010 semapv:UnspecifiedMatching +OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:30322 semapv:UnspecifiedMatching +OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:ARHGEF28 semapv:UnspecifiedMatching +OMIM:612790 ARHGEF28 skos:exactMatch ncbigene:64283 semapv:UnspecifiedMatching +OMIM:612791 ZKSCAN3 skos:exactMatch hgnc.symbol:13853 semapv:UnspecifiedMatching +OMIM:612791 ZKSCAN3 skos:exactMatch hgnc.symbol:ZKSCAN3 semapv:UnspecifiedMatching +OMIM:612791 ZKSCAN3 skos:exactMatch ncbigene:80317 semapv:UnspecifiedMatching +OMIM:612792 PTDSS1 skos:exactMatch hgnc.symbol:9587 semapv:UnspecifiedMatching +OMIM:612792 PTDSS1 skos:exactMatch hgnc.symbol:PTDSS1 semapv:UnspecifiedMatching +OMIM:612792 PTDSS1 skos:exactMatch ncbigene:9791 semapv:UnspecifiedMatching +OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:15463 semapv:UnspecifiedMatching +OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:PTDSS2 semapv:UnspecifiedMatching +OMIM:612793 PTDSS2 skos:exactMatch ncbigene:81490 semapv:UnspecifiedMatching +OMIM:612794 atrial septal defect 5 skos:exactMatch MONDO:0013011 semapv:UnspecifiedMatching +OMIM:612796 inflammatory bowel disease 27 skos:exactMatch MONDO:0013012 semapv:UnspecifiedMatching +OMIM:612798 question mark ears, isolated skos:exactMatch MONDO:0013013 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch UMLS:C1825021 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch UMLS:C3554079 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:29419 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:EARS2 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch ncbigene:124454 semapv:UnspecifiedMatching +OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:25695 semapv:UnspecifiedMatching +OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:CARS2 semapv:UnspecifiedMatching +OMIM:612800 CARS2 skos:exactMatch ncbigene:79587 semapv:UnspecifiedMatching +OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:29685 semapv:UnspecifiedMatching +OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:IARS2 semapv:UnspecifiedMatching +OMIM:612801 IARS2 skos:exactMatch ncbigene:55699 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch UMLS:C1823614 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:21642 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:VARS2 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch ncbigene:57176 semapv:UnspecifiedMatching +OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:26274 semapv:UnspecifiedMatching +OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:NARS2 semapv:UnspecifiedMatching +OMIM:612803 NARS2 skos:exactMatch ncbigene:79731 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch UMLS:C1425041 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:17697 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:SARS2 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch ncbigene:54938 semapv:UnspecifiedMatching +OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:30740 semapv:UnspecifiedMatching +OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:TARS2 semapv:UnspecifiedMatching +OMIM:612805 TARS2 skos:exactMatch ncbigene:80222 semapv:UnspecifiedMatching +OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:13840 semapv:UnspecifiedMatching +OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:GPR89B semapv:UnspecifiedMatching +OMIM:612806 GPR89B skos:exactMatch ncbigene:51463 semapv:UnspecifiedMatching +OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:29290 semapv:UnspecifiedMatching +OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:LRFN1 semapv:UnspecifiedMatching +OMIM:612807 LRFN1 skos:exactMatch ncbigene:57622 semapv:UnspecifiedMatching +OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:21226 semapv:UnspecifiedMatching +OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:LRFN2 semapv:UnspecifiedMatching +OMIM:612808 LRFN2 skos:exactMatch ncbigene:57497 semapv:UnspecifiedMatching +OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:28370 semapv:UnspecifiedMatching +OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:LRFN3 semapv:UnspecifiedMatching +OMIM:612809 LRFN3 skos:exactMatch ncbigene:79414 semapv:UnspecifiedMatching +OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:28456 semapv:UnspecifiedMatching +OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:LRFN4 semapv:UnspecifiedMatching +OMIM:612810 LRFN4 skos:exactMatch ncbigene:78999 semapv:UnspecifiedMatching +OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:20360 semapv:UnspecifiedMatching +OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:LRFN5 semapv:UnspecifiedMatching +OMIM:612811 LRFN5 skos:exactMatch ncbigene:145581 semapv:UnspecifiedMatching +OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:18627 semapv:UnspecifiedMatching +OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:PFN3 semapv:UnspecifiedMatching +OMIM:612812 PFN3 skos:exactMatch ncbigene:345456 semapv:UnspecifiedMatching +OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan iia skos:exactMatch MONDO:0013014 semapv:UnspecifiedMatching +OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:29579 semapv:UnspecifiedMatching +OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:SPATA18 semapv:UnspecifiedMatching +OMIM:612814 SPATA18 skos:exactMatch ncbigene:132671 semapv:UnspecifiedMatching +OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:18413 semapv:UnspecifiedMatching +OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:ZDHHC13 semapv:UnspecifiedMatching +OMIM:612815 ZDHHC13 skos:exactMatch ncbigene:54503 semapv:UnspecifiedMatching +OMIM:612816 UTP18 skos:exactMatch UMLS:C1823611 semapv:UnspecifiedMatching +OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:24274 semapv:UnspecifiedMatching +OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:UTP18 semapv:UnspecifiedMatching +OMIM:612816 UTP18 skos:exactMatch ncbigene:51096 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch UMLS:C1825740 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:5176 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:KRR1 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch ncbigene:11103 semapv:UnspecifiedMatching +OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:18538 semapv:UnspecifiedMatching +OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:NUSAP1 semapv:UnspecifiedMatching +OMIM:612818 NUSAP1 skos:exactMatch ncbigene:51203 semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch UMLS:C1826447 semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:28461 semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:NOC4L semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch ncbigene:79050 semapv:UnspecifiedMatching +OMIM:612820 NPTN skos:exactMatch hgnc.symbol:17867 semapv:UnspecifiedMatching +OMIM:612820 NPTN skos:exactMatch hgnc.symbol:NPTN semapv:UnspecifiedMatching +OMIM:612820 NPTN skos:exactMatch ncbigene:27020 semapv:UnspecifiedMatching +OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:31984 semapv:UnspecifiedMatching +OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:GPR89A semapv:UnspecifiedMatching +OMIM:612821 GPR89A skos:exactMatch ncbigene:653519 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch UMLS:C1823612 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:17897 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:UTP20 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch ncbigene:27340 semapv:UnspecifiedMatching +OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:28759 semapv:UnspecifiedMatching +OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:TAF1D semapv:UnspecifiedMatching +OMIM:612823 TAF1D skos:exactMatch ncbigene:79101 semapv:UnspecifiedMatching +OMIM:612824 SEC14L3 skos:exactMatch hgnc.symbol:18655 semapv:UnspecifiedMatching +OMIM:612824 SEC14L3 skos:exactMatch hgnc.symbol:SEC14L3 semapv:UnspecifiedMatching +OMIM:612824 SEC14L3 skos:exactMatch ncbigene:266629 semapv:UnspecifiedMatching +OMIM:612825 SEC14L4 skos:exactMatch hgnc.symbol:20627 semapv:UnspecifiedMatching +OMIM:612825 SEC14L4 skos:exactMatch hgnc.symbol:SEC14L4 semapv:UnspecifiedMatching +OMIM:612825 SEC14L4 skos:exactMatch ncbigene:284904 semapv:UnspecifiedMatching +OMIM:612826 SGPP1 skos:exactMatch hgnc.symbol:17720 semapv:UnspecifiedMatching +OMIM:612826 SGPP1 skos:exactMatch hgnc.symbol:SGPP1 semapv:UnspecifiedMatching +OMIM:612826 SGPP1 skos:exactMatch ncbigene:81537 semapv:UnspecifiedMatching +OMIM:612827 SGPP2 skos:exactMatch hgnc.symbol:19953 semapv:UnspecifiedMatching +OMIM:612827 SGPP2 skos:exactMatch hgnc.symbol:SGPP2 semapv:UnspecifiedMatching +OMIM:612827 SGPP2 skos:exactMatch ncbigene:130367 semapv:UnspecifiedMatching +OMIM:612828 CEBPZ skos:exactMatch hgnc.symbol:24218 semapv:UnspecifiedMatching +OMIM:612828 CEBPZ skos:exactMatch hgnc.symbol:CEBPZ semapv:UnspecifiedMatching +OMIM:612828 CEBPZ skos:exactMatch ncbigene:10153 semapv:UnspecifiedMatching +OMIM:612829 RAB3C skos:exactMatch hgnc.symbol:30269 semapv:UnspecifiedMatching +OMIM:612829 RAB3C skos:exactMatch hgnc.symbol:RAB3C semapv:UnspecifiedMatching +OMIM:612829 RAB3C skos:exactMatch ncbigene:115827 semapv:UnspecifiedMatching +OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:17693 semapv:UnspecifiedMatching +OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:DHRS3 semapv:UnspecifiedMatching +OMIM:612830 DHRS3 skos:exactMatch ncbigene:9249 semapv:UnspecifiedMatching +OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:22960 semapv:UnspecifiedMatching +OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:HSD17B11 semapv:UnspecifiedMatching +OMIM:612831 HSD17B11 skos:exactMatch ncbigene:51170 semapv:UnspecifiedMatching +OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:23238 semapv:UnspecifiedMatching +OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:HSD17B14 semapv:UnspecifiedMatching +OMIM:612832 HSD17B14 skos:exactMatch ncbigene:51171 semapv:UnspecifiedMatching +OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:21524 semapv:UnspecifiedMatching +OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:DHRS7 semapv:UnspecifiedMatching +OMIM:612833 DHRS7 skos:exactMatch ncbigene:51635 semapv:UnspecifiedMatching +OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:23697 semapv:UnspecifiedMatching +OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:PHLDB1 semapv:UnspecifiedMatching +OMIM:612834 PHLDB1 skos:exactMatch ncbigene:23187 semapv:UnspecifiedMatching +OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:29185 semapv:UnspecifiedMatching +OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:PLCH1 semapv:UnspecifiedMatching +OMIM:612835 PLCH1 skos:exactMatch ncbigene:23007 semapv:UnspecifiedMatching +OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:29037 semapv:UnspecifiedMatching +OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:PLCH2 semapv:UnspecifiedMatching +OMIM:612836 PLCH2 skos:exactMatch ncbigene:9651 semapv:UnspecifiedMatching +OMIM:612837 COQ9 skos:exactMatch hgnc.symbol:25302 semapv:UnspecifiedMatching +OMIM:612837 COQ9 skos:exactMatch hgnc.symbol:COQ9 semapv:UnspecifiedMatching +OMIM:612837 COQ9 skos:exactMatch ncbigene:57017 semapv:UnspecifiedMatching +OMIM:612838 brugada syndrome 5 skos:exactMatch MONDO:0013015 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch UMLS:C1825692 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch hgnc.symbol:25941 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch hgnc.symbol:TET2 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch ncbigene:54790 semapv:UnspecifiedMatching +OMIM:612840 leukocyte adhesion deficiency, iia 3 skos:exactMatch MONDO:0013016 semapv:UnspecifiedMatching +OMIM:612841 hypotrichosis 5 skos:exactMatch MONDO:0013017 semapv:UnspecifiedMatching +OMIM:612841 hypotrichosis 5 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching +OMIM:612841 hypotrichosis 5 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching +OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:18229 semapv:UnspecifiedMatching +OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:RASD2 semapv:UnspecifiedMatching +OMIM:612842 RASD2 skos:exactMatch ncbigene:23551 semapv:UnspecifiedMatching +OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch MONDO:0013018 semapv:UnspecifiedMatching +OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:17862 semapv:UnspecifiedMatching +OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:SENP3 semapv:UnspecifiedMatching +OMIM:612844 SENP3 skos:exactMatch ncbigene:26168 semapv:UnspecifiedMatching +OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:28407 semapv:UnspecifiedMatching +OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:SENP5 semapv:UnspecifiedMatching +OMIM:612845 SENP5 skos:exactMatch ncbigene:205564 semapv:UnspecifiedMatching +OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:30402 semapv:UnspecifiedMatching +OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:SENP7 semapv:UnspecifiedMatching +OMIM:612846 SENP7 skos:exactMatch ncbigene:57337 semapv:UnspecifiedMatching +OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes skos:exactMatch MONDO:0019666 semapv:UnspecifiedMatching +OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:33867 semapv:UnspecifiedMatching +OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:SDHAF1 semapv:UnspecifiedMatching +OMIM:612848 SDHAF1 skos:exactMatch ncbigene:644096 semapv:UnspecifiedMatching +OMIM:612849 USP46 skos:exactMatch hgnc.symbol:20075 semapv:UnspecifiedMatching +OMIM:612849 USP46 skos:exactMatch hgnc.symbol:USP46 semapv:UnspecifiedMatching +OMIM:612849 USP46 skos:exactMatch ncbigene:64854 semapv:UnspecifiedMatching +OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:30829 semapv:UnspecifiedMatching +OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:TUBB2B semapv:UnspecifiedMatching +OMIM:612850 TUBB2B skos:exactMatch ncbigene:347733 semapv:UnspecifiedMatching +OMIM:612851 narcolepsy 5, susceptibility to skos:exactMatch MONDO:0013020 semapv:UnspecifiedMatching +OMIM:612852 chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis skos:exactMatch MONDO:0013021 semapv:UnspecifiedMatching +OMIM:612853 restless legs syndrome, susceptibility to, 7 skos:exactMatch MONDO:0013022 semapv:UnspecifiedMatching +OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:29006 semapv:UnspecifiedMatching +OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:SEC16A semapv:UnspecifiedMatching +OMIM:612854 SEC16A skos:exactMatch ncbigene:9919 semapv:UnspecifiedMatching +OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:30301 semapv:UnspecifiedMatching +OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:SEC16B semapv:UnspecifiedMatching +OMIM:612855 SEC16B skos:exactMatch ncbigene:89866 semapv:UnspecifiedMatching +OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:17021 semapv:UnspecifiedMatching +OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:ASTN2 semapv:UnspecifiedMatching +OMIM:612856 ASTN2 skos:exactMatch ncbigene:23245 semapv:UnspecifiedMatching +OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:19255 semapv:UnspecifiedMatching +OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:PLAC9 semapv:UnspecifiedMatching +OMIM:612857 PLAC9 skos:exactMatch ncbigene:219348 semapv:UnspecifiedMatching +OMIM:612858 orofacial cleft 12 skos:exactMatch MONDO:0013023 semapv:UnspecifiedMatching +OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:26838 semapv:UnspecifiedMatching +OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:TIGIT semapv:UnspecifiedMatching +OMIM:612859 TIGIT skos:exactMatch ncbigene:201633 semapv:UnspecifiedMatching +OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:30249 semapv:UnspecifiedMatching +OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:QSOX2 semapv:UnspecifiedMatching +OMIM:612860 QSOX2 skos:exactMatch ncbigene:169714 semapv:UnspecifiedMatching +OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:26934 semapv:UnspecifiedMatching +OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:NOP16 semapv:UnspecifiedMatching +OMIM:612861 NOP16 skos:exactMatch ncbigene:51491 semapv:UnspecifiedMatching +OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to skos:exactMatch MONDO:0013024 semapv:UnspecifiedMatching +OMIM:612863 chromosome 6q24-q25 deletion syndrome skos:exactMatch MONDO:0013025 semapv:UnspecifiedMatching +OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:30038 semapv:UnspecifiedMatching +OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:PLA2G4D semapv:UnspecifiedMatching +OMIM:612864 PLA2G4D skos:exactMatch ncbigene:283748 semapv:UnspecifiedMatching +OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:28711 semapv:UnspecifiedMatching +OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:PIP5KL1 semapv:UnspecifiedMatching +OMIM:612865 PIP5KL1 skos:exactMatch ncbigene:138429 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C1823173 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C4015596 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:28287 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:ALG14 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch ncbigene:199857 semapv:UnspecifiedMatching +OMIM:612867 corneal dystrophy, subepithelial mucinous skos:exactMatch MONDO:0013026 semapv:UnspecifiedMatching +OMIM:612868 corneal dystrophy, posterior amorphous skos:exactMatch MONDO:0013027 semapv:UnspecifiedMatching +OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:29063 semapv:UnspecifiedMatching +OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:ATRNL1 semapv:UnspecifiedMatching +OMIM:612869 ATRNL1 skos:exactMatch ncbigene:26033 semapv:UnspecifiedMatching +OMIM:612870 PHIP skos:exactMatch hgnc.symbol:15673 semapv:UnspecifiedMatching +OMIM:612870 PHIP skos:exactMatch hgnc.symbol:PHIP semapv:UnspecifiedMatching +OMIM:612870 PHIP skos:exactMatch ncbigene:55023 semapv:UnspecifiedMatching +OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:25743 semapv:UnspecifiedMatching +OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:NKAIN1 semapv:UnspecifiedMatching +OMIM:612871 NKAIN1 skos:exactMatch ncbigene:79570 semapv:UnspecifiedMatching +OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:26829 semapv:UnspecifiedMatching +OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:NKAIN3 semapv:UnspecifiedMatching +OMIM:612872 NKAIN3 skos:exactMatch ncbigene:286183 semapv:UnspecifiedMatching +OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:16191 semapv:UnspecifiedMatching +OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:NKAIN4 semapv:UnspecifiedMatching +OMIM:612873 NKAIN4 skos:exactMatch ncbigene:128414 semapv:UnspecifiedMatching +OMIM:612874 erythrocyte amp deaminase deficiency skos:exactMatch MONDO:0020734 semapv:UnspecifiedMatching +OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:16341 semapv:UnspecifiedMatching +OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:GNRHR2 semapv:UnspecifiedMatching +OMIM:612876 spinocerebellar ataxia 9 skos:exactMatch MONDO:0013029 semapv:UnspecifiedMatching +OMIM:612877 cardiomyopathy, dilated, 1bb skos:exactMatch MONDO:0013030 semapv:UnspecifiedMatching +OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:30578 semapv:UnspecifiedMatching +OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:EXPH5 semapv:UnspecifiedMatching +OMIM:612878 EXPH5 skos:exactMatch ncbigene:23086 semapv:UnspecifiedMatching +OMIM:612879 MAMDC2 skos:exactMatch hgnc.symbol:23673 semapv:UnspecifiedMatching +OMIM:612879 MAMDC2 skos:exactMatch hgnc.symbol:MAMDC2 semapv:UnspecifiedMatching +OMIM:612879 MAMDC2 skos:exactMatch ncbigene:256691 semapv:UnspecifiedMatching +OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:15585 semapv:UnspecifiedMatching +OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:SYTL2 semapv:UnspecifiedMatching +OMIM:612880 SYTL2 skos:exactMatch ncbigene:54843 semapv:UnspecifiedMatching +OMIM:612881 chromosome 5q14.3 deletion syndrome, distal skos:exactMatch MONDO:0013031 semapv:UnspecifiedMatching +OMIM:612885 premature ovarian failure 10 skos:exactMatch MONDO:0044776 semapv:UnspecifiedMatching +OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:25589 semapv:UnspecifiedMatching +OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:SEPTIN11 semapv:UnspecifiedMatching +OMIM:612887 SEPT11 skos:exactMatch ncbigene:55752 semapv:UnspecifiedMatching +OMIM:612888 LRRC8B skos:exactMatch hgnc.symbol:30692 semapv:UnspecifiedMatching +OMIM:612888 LRRC8B skos:exactMatch hgnc.symbol:LRRC8B semapv:UnspecifiedMatching +OMIM:612888 LRRC8B skos:exactMatch ncbigene:23507 semapv:UnspecifiedMatching +OMIM:612889 LRRC8C skos:exactMatch hgnc.symbol:25075 semapv:UnspecifiedMatching +OMIM:612889 LRRC8C skos:exactMatch hgnc.symbol:LRRC8C semapv:UnspecifiedMatching +OMIM:612889 LRRC8C skos:exactMatch ncbigene:84230 semapv:UnspecifiedMatching +OMIM:612890 LRRC8D skos:exactMatch hgnc.symbol:16992 semapv:UnspecifiedMatching +OMIM:612890 LRRC8D skos:exactMatch hgnc.symbol:LRRC8D semapv:UnspecifiedMatching +OMIM:612890 LRRC8D skos:exactMatch ncbigene:55144 semapv:UnspecifiedMatching +OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:26272 semapv:UnspecifiedMatching +OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:LRRC8E semapv:UnspecifiedMatching +OMIM:612891 LRRC8E skos:exactMatch ncbigene:80131 semapv:UnspecifiedMatching +OMIM:612895 NXN skos:exactMatch hgnc.symbol:18008 semapv:UnspecifiedMatching +OMIM:612895 NXN skos:exactMatch hgnc.symbol:NXN semapv:UnspecifiedMatching +OMIM:612895 NXN skos:exactMatch ncbigene:64359 semapv:UnspecifiedMatching +OMIM:612896 RDM1 skos:exactMatch hgnc.symbol:19950 semapv:UnspecifiedMatching +OMIM:612896 RDM1 skos:exactMatch hgnc.symbol:RDM1 semapv:UnspecifiedMatching +OMIM:612896 RDM1 skos:exactMatch ncbigene:201299 semapv:UnspecifiedMatching +OMIM:612897 SEPT1 skos:exactMatch hgnc.symbol:2879 semapv:UnspecifiedMatching +OMIM:612897 SEPT1 skos:exactMatch hgnc.symbol:SEPTIN1 semapv:UnspecifiedMatching +OMIM:612897 SEPT1 skos:exactMatch ncbigene:1731 semapv:UnspecifiedMatching +OMIM:612898 COQ4 skos:exactMatch hgnc.symbol:19693 semapv:UnspecifiedMatching +OMIM:612898 COQ4 skos:exactMatch hgnc.symbol:COQ4 semapv:UnspecifiedMatching +OMIM:612898 COQ4 skos:exactMatch ncbigene:51117 semapv:UnspecifiedMatching +OMIM:612899 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch MONDO:0013032 semapv:UnspecifiedMatching +OMIM:612900 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch MONDO:0013033 semapv:UnspecifiedMatching +OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:16257 semapv:UnspecifiedMatching +OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:TUBB1 semapv:UnspecifiedMatching +OMIM:612901 TUBB1 skos:exactMatch ncbigene:81027 semapv:UnspecifiedMatching +OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:27038 semapv:UnspecifiedMatching +OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:LCN8 semapv:UnspecifiedMatching +OMIM:612902 LCN8 skos:exactMatch ncbigene:138307 semapv:UnspecifiedMatching +OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:17442 semapv:UnspecifiedMatching +OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:LCN9 semapv:UnspecifiedMatching +OMIM:612903 LCN9 skos:exactMatch ncbigene:392399 semapv:UnspecifiedMatching +OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:20892 semapv:UnspecifiedMatching +OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:LCN10 semapv:UnspecifiedMatching +OMIM:612904 LCN10 skos:exactMatch ncbigene:414332 semapv:UnspecifiedMatching +OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:28733 semapv:UnspecifiedMatching +OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:LCN12 semapv:UnspecifiedMatching +OMIM:612905 LCN12 skos:exactMatch ncbigene:286256 semapv:UnspecifiedMatching +OMIM:612906 RAB32 skos:exactMatch UMLS:C1419201 semapv:UnspecifiedMatching +OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:9772 semapv:UnspecifiedMatching +OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:RAB32 semapv:UnspecifiedMatching +OMIM:612906 RAB32 skos:exactMatch ncbigene:10981 semapv:UnspecifiedMatching +OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:17341 semapv:UnspecifiedMatching +OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:TRNT1 semapv:UnspecifiedMatching +OMIM:612907 TRNT1 skos:exactMatch ncbigene:51095 semapv:UnspecifiedMatching +OMIM:612908 keratosis palmoplantaris striata 2 skos:exactMatch MONDO:0013034 semapv:UnspecifiedMatching +OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:16525 semapv:UnspecifiedMatching +OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:RAB6C semapv:UnspecifiedMatching +OMIM:612909 RAB6C skos:exactMatch ncbigene:84084 semapv:UnspecifiedMatching +OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:28428 semapv:UnspecifiedMatching +OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:PHF23 semapv:UnspecifiedMatching +OMIM:612910 PHF23 skos:exactMatch ncbigene:79142 semapv:UnspecifiedMatching +OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:29918 semapv:UnspecifiedMatching +OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:NDUFAF3 semapv:UnspecifiedMatching +OMIM:612911 NDUFAF3 skos:exactMatch ncbigene:25915 semapv:UnspecifiedMatching +OMIM:612912 TMEM97 skos:exactMatch hgnc.symbol:28106 semapv:UnspecifiedMatching +OMIM:612912 TMEM97 skos:exactMatch hgnc.symbol:TMEM97 semapv:UnspecifiedMatching +OMIM:612912 TMEM97 skos:exactMatch ncbigene:27346 semapv:UnspecifiedMatching +OMIM:612913 orofaciodigital syndrome 11 skos:exactMatch MONDO:0013035 semapv:UnspecifiedMatching +OMIM:612914 MED29 skos:exactMatch hgnc.symbol:23074 semapv:UnspecifiedMatching +OMIM:612914 MED29 skos:exactMatch hgnc.symbol:MED29 semapv:UnspecifiedMatching +OMIM:612914 MED29 skos:exactMatch ncbigene:55588 semapv:UnspecifiedMatching +OMIM:612915 MED20 skos:exactMatch hgnc.symbol:16840 semapv:UnspecifiedMatching +OMIM:612915 MED20 skos:exactMatch hgnc.symbol:MED20 semapv:UnspecifiedMatching +OMIM:612915 MED20 skos:exactMatch ncbigene:9477 semapv:UnspecifiedMatching +OMIM:612916 zechi-ceide syndrome skos:exactMatch MONDO:0013036 semapv:UnspecifiedMatching +OMIM:612917 giacheti syndrome skos:exactMatch MONDO:0013037 semapv:UnspecifiedMatching +OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch MONDO:0013038 semapv:UnspecifiedMatching +OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch Orphanet:140944 semapv:UnspecifiedMatching +OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch UMLS:C2752042 semapv:UnspecifiedMatching +OMIM:612919 LANCL2 skos:exactMatch hgnc.symbol:6509 semapv:UnspecifiedMatching +OMIM:612919 LANCL2 skos:exactMatch hgnc.symbol:LANCL2 semapv:UnspecifiedMatching +OMIM:612919 LANCL2 skos:exactMatch ncbigene:55915 semapv:UnspecifiedMatching +OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:1268 semapv:UnspecifiedMatching +OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:TSPEAR semapv:UnspecifiedMatching +OMIM:612920 TSPEAR skos:exactMatch ncbigene:54084 semapv:UnspecifiedMatching +OMIM:612921 three m syndrome 2 skos:exactMatch MONDO:0013039 semapv:UnspecifiedMatching +OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 skos:exactMatch MONDO:0013040 semapv:UnspecifiedMatching +OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 skos:exactMatch MONDO:0013041 semapv:UnspecifiedMatching +OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 skos:exactMatch MONDO:0013042 semapv:UnspecifiedMatching +OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 skos:exactMatch MONDO:0013043 semapv:UnspecifiedMatching +OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 skos:exactMatch MONDO:0013044 semapv:UnspecifiedMatching +OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:28994 semapv:UnspecifiedMatching +OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:AVL9 semapv:UnspecifiedMatching +OMIM:612927 AVL9 skos:exactMatch ncbigene:23080 semapv:UnspecifiedMatching +OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:26278 semapv:UnspecifiedMatching +OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:ISOC2 semapv:UnspecifiedMatching +OMIM:612928 ISOC2 skos:exactMatch ncbigene:79763 semapv:UnspecifiedMatching +OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch MONDO:0013045 semapv:UnspecifiedMatching +OMIM:612930 PID1 skos:exactMatch hgnc.symbol:26084 semapv:UnspecifiedMatching +OMIM:612930 PID1 skos:exactMatch hgnc.symbol:PID1 semapv:UnspecifiedMatching +OMIM:612930 PID1 skos:exactMatch ncbigene:55022 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch UMLS:C0268149 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch UMLS:C1418502 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch hgnc.symbol:8889 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch hgnc.symbol:PGAM2 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch ncbigene:5224 semapv:UnspecifiedMatching +OMIM:612932 glycogen storage disease 13 skos:exactMatch MONDO:0013046 semapv:UnspecifiedMatching +OMIM:612933 glycogen storage disease 11 skos:exactMatch MONDO:0013047 semapv:UnspecifiedMatching +OMIM:612935 MPRIP skos:exactMatch hgnc.symbol:30321 semapv:UnspecifiedMatching +OMIM:612935 MPRIP skos:exactMatch hgnc.symbol:MPRIP semapv:UnspecifiedMatching +OMIM:612935 MPRIP skos:exactMatch ncbigene:23164 semapv:UnspecifiedMatching +OMIM:612936 spastic paraplegia 50, autosomal recessive skos:exactMatch MONDO:0013048 semapv:UnspecifiedMatching +OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch MONDO:0013049 semapv:UnspecifiedMatching +OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch Orphanet:263494 semapv:UnspecifiedMatching +OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching +OMIM:612938 growth retardation, developmental delay, and facial dysmorphism skos:exactMatch MONDO:0013050 semapv:UnspecifiedMatching +OMIM:612939 HSPBP1 skos:exactMatch hgnc.symbol:24989 semapv:UnspecifiedMatching +OMIM:612939 HSPBP1 skos:exactMatch hgnc.symbol:HSPBP1 semapv:UnspecifiedMatching +OMIM:612939 HSPBP1 skos:exactMatch ncbigene:23640 semapv:UnspecifiedMatching +OMIM:612940 cutis laxa, autosomal recessive, iia 2b skos:exactMatch MONDO:0013051 semapv:UnspecifiedMatching +OMIM:612941 PRPF40A skos:exactMatch hgnc.symbol:16463 semapv:UnspecifiedMatching +OMIM:612941 PRPF40A skos:exactMatch hgnc.symbol:PRPF40A semapv:UnspecifiedMatching +OMIM:612941 PRPF40A skos:exactMatch ncbigene:55660 semapv:UnspecifiedMatching +OMIM:612942 RAB25 skos:exactMatch hgnc.symbol:18238 semapv:UnspecifiedMatching +OMIM:612942 RAB25 skos:exactMatch hgnc.symbol:RAB25 semapv:UnspecifiedMatching +OMIM:612942 RAB25 skos:exactMatch ncbigene:57111 semapv:UnspecifiedMatching +OMIM:612943 retinitis pigmentosa 42 skos:exactMatch MONDO:0013052 semapv:UnspecifiedMatching +OMIM:612944 RNASET2 skos:exactMatch hgnc.symbol:21686 semapv:UnspecifiedMatching +OMIM:612944 RNASET2 skos:exactMatch hgnc.symbol:RNASET2 semapv:UnspecifiedMatching +OMIM:612944 RNASET2 skos:exactMatch ncbigene:8635 semapv:UnspecifiedMatching +OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:9782 semapv:UnspecifiedMatching +OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:RAB4B semapv:UnspecifiedMatching +OMIM:612945 RAB4B skos:exactMatch ncbigene:53916 semapv:UnspecifiedMatching +OMIM:612946 hadziselimovic syndrome skos:exactMatch MONDO:0013053 semapv:UnspecifiedMatching +OMIM:612947 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch MONDO:0013054 semapv:UnspecifiedMatching +OMIM:612948 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features skos:exactMatch MONDO:0013055 semapv:UnspecifiedMatching +OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch MONDO:0013056 semapv:UnspecifiedMatching +OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch Orphanet:353217 semapv:UnspecifiedMatching +OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching +OMIM:612950 psoriasis 12, susceptibility to skos:exactMatch MONDO:0013057 semapv:UnspecifiedMatching +OMIM:612951 leukoencephalopathy, cystic, without megalencephaly skos:exactMatch MONDO:0013058 semapv:UnspecifiedMatching +OMIM:612952 aicardi-goutieres syndrome 5 skos:exactMatch MONDO:0013059 semapv:UnspecifiedMatching +OMIM:612953 parkinson disease 14, autosomal recessive skos:exactMatch MONDO:0013060 semapv:UnspecifiedMatching +OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch MONDO:0013061 semapv:UnspecifiedMatching +OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch Orphanet:199340 semapv:UnspecifiedMatching +OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch UMLS:C2751831 semapv:UnspecifiedMatching +OMIM:612955 long qt syndrome 12 skos:exactMatch MONDO:0013062 semapv:UnspecifiedMatching +OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch MONDO:0013063 semapv:UnspecifiedMatching +OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching +OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch UMLS:C1824568 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:24316 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:TACO1 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch ncbigene:51204 semapv:UnspecifiedMatching +OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:25966 semapv:UnspecifiedMatching +OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:ESRP1 semapv:UnspecifiedMatching +OMIM:612959 ESRP1 skos:exactMatch ncbigene:54845 semapv:UnspecifiedMatching +OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:26152 semapv:UnspecifiedMatching +OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:ESRP2 semapv:UnspecifiedMatching +OMIM:612960 ESRP2 skos:exactMatch ncbigene:80004 semapv:UnspecifiedMatching +OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch MONDO:0013064 semapv:UnspecifiedMatching +OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching +OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching +OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:24594 semapv:UnspecifiedMatching +OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:DCTN5 semapv:UnspecifiedMatching +OMIM:612962 DCTN5 skos:exactMatch ncbigene:84516 semapv:UnspecifiedMatching +OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:16964 semapv:UnspecifiedMatching +OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:DCTN6 semapv:UnspecifiedMatching +OMIM:612963 DCTN6 skos:exactMatch ncbigene:10671 semapv:UnspecifiedMatching +OMIM:612964 premature ovarian failure 7 skos:exactMatch MONDO:0013065 semapv:UnspecifiedMatching +OMIM:612965 46,xy sex reversal 3 skos:exactMatch MONDO:0013066 semapv:UnspecifiedMatching +OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:9764 semapv:UnspecifiedMatching +OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:RAB22A semapv:UnspecifiedMatching +OMIM:612966 RAB22A skos:exactMatch ncbigene:57403 semapv:UnspecifiedMatching +OMIM:612968 cataract 34, multiple types skos:exactMatch MONDO:0013067 semapv:UnspecifiedMatching +OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:18331 semapv:UnspecifiedMatching +OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:TIGD7 semapv:UnspecifiedMatching +OMIM:612969 TIGD7 skos:exactMatch ncbigene:91151 semapv:UnspecifiedMatching +OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:31997 semapv:UnspecifiedMatching +OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:NBPF17P semapv:UnspecifiedMatching +OMIM:612971 PDZD7 skos:exactMatch hgnc.symbol:26257 semapv:UnspecifiedMatching +OMIM:612971 PDZD7 skos:exactMatch hgnc.symbol:PDZD7 semapv:UnspecifiedMatching +OMIM:612971 PDZD7 skos:exactMatch ncbigene:79955 semapv:UnspecifiedMatching +OMIM:612972 TIGD1 skos:exactMatch hgnc.symbol:14523 semapv:UnspecifiedMatching +OMIM:612972 TIGD1 skos:exactMatch hgnc.symbol:TIGD1 semapv:UnspecifiedMatching +OMIM:612972 TIGD1 skos:exactMatch ncbigene:200765 semapv:UnspecifiedMatching +OMIM:612973 TIGD2 skos:exactMatch hgnc.symbol:18333 semapv:UnspecifiedMatching +OMIM:612973 TIGD2 skos:exactMatch hgnc.symbol:TIGD2 semapv:UnspecifiedMatching +OMIM:612973 TIGD2 skos:exactMatch ncbigene:166815 semapv:UnspecifiedMatching +OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:22953 semapv:UnspecifiedMatching +OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:DEPTOR semapv:UnspecifiedMatching +OMIM:612974 DEPDC6 skos:exactMatch ncbigene:64798 semapv:UnspecifiedMatching +OMIM:612975 short sleep, familial natural, 1 skos:exactMatch MONDO:0020784 semapv:UnspecifiedMatching +OMIM:612975 short sleep, familial natural, 1 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching +OMIM:612976 age-related hearing impairment 2 skos:exactMatch MONDO:0013068 semapv:UnspecifiedMatching +OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:28998 semapv:UnspecifiedMatching +OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:DCUN1D4 semapv:UnspecifiedMatching +OMIM:612977 DCUN1D4 skos:exactMatch ncbigene:23142 semapv:UnspecifiedMatching +OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:20146 semapv:UnspecifiedMatching +OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:CBLN3 semapv:UnspecifiedMatching +OMIM:612978 CBLN3 skos:exactMatch ncbigene:643866 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch UMLS:C1823165 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:16162 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:SYS1 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch ncbigene:90196 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch UMLS:C1825597 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:14497 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:IMP3 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch ncbigene:55272 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch UMLS:C1537406 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:30856 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:IMP4 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch ncbigene:92856 semapv:UnspecifiedMatching +OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:31587 semapv:UnspecifiedMatching +OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:MIR210 semapv:UnspecifiedMatching +OMIM:612982 MIR210 skos:exactMatch ncbigene:406992 semapv:UnspecifiedMatching +OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:31495 semapv:UnspecifiedMatching +OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:MIR106B semapv:UnspecifiedMatching +OMIM:612983 MIR106B skos:exactMatch ncbigene:406900 semapv:UnspecifiedMatching +OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:31645 semapv:UnspecifiedMatching +OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:MIR93 semapv:UnspecifiedMatching +OMIM:612984 MIR93 skos:exactMatch ncbigene:407050 semapv:UnspecifiedMatching +OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:14360 semapv:UnspecifiedMatching +OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:IRX3 semapv:UnspecifiedMatching +OMIM:612985 IRX3 skos:exactMatch ncbigene:79191 semapv:UnspecifiedMatching +OMIM:612986 EID3 skos:exactMatch hgnc.symbol:32961 semapv:UnspecifiedMatching +OMIM:612986 EID3 skos:exactMatch hgnc.symbol:EID3 semapv:UnspecifiedMatching +OMIM:612986 EID3 skos:exactMatch ncbigene:493861 semapv:UnspecifiedMatching +OMIM:612987 NSMCE4A skos:exactMatch UMLS:C1826474 semapv:UnspecifiedMatching +OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:25935 semapv:UnspecifiedMatching +OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:NSMCE4A semapv:UnspecifiedMatching +OMIM:612987 NSMCE4A skos:exactMatch ncbigene:54780 semapv:UnspecifiedMatching +OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:25382 semapv:UnspecifiedMatching +OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:TMEM126A semapv:UnspecifiedMatching +OMIM:612988 TMEM126A skos:exactMatch ncbigene:84233 semapv:UnspecifiedMatching +OMIM:612989 optic atrophy 7 with or without auditory neuropathy skos:exactMatch MONDO:0013069 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch UMLS:C1425445 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:18318 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:ASXL1 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch ncbigene:171023 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch UMLS:C1428272 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch UMLS:C4310672 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:23805 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:ASXL2 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch ncbigene:55252 semapv:UnspecifiedMatching +OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:25076 semapv:UnspecifiedMatching +OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:NBPF3 semapv:UnspecifiedMatching +OMIM:612992 NBPF3 skos:exactMatch ncbigene:84224 semapv:UnspecifiedMatching +OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:24589 semapv:UnspecifiedMatching +OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:FILIP1L semapv:UnspecifiedMatching +OMIM:612993 FILIP1L skos:exactMatch ncbigene:11259 semapv:UnspecifiedMatching +OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:9768 semapv:UnspecifiedMatching +OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:RAB28 semapv:UnspecifiedMatching +OMIM:612994 RAB28 skos:exactMatch ncbigene:9364 semapv:UnspecifiedMatching +OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:12354 semapv:UnspecifiedMatching +OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:TRV-CAC1-2 semapv:UnspecifiedMatching +OMIM:612995 TRV-CAC1-2 skos:exactMatch ncbigene:7240 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch UMLS:C1823498 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:33199 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:TRK-CTT2-3 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch ncbigene:790966 semapv:UnspecifiedMatching +OMIM:612997 spermatogenic failure 7 skos:exactMatch MONDO:0013070 semapv:UnspecifiedMatching +OMIM:612997 spermatogenic failure 7 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching +OMIM:612997 spermatogenic failure 7 skos:exactMatch UMLS:C2751811 semapv:UnspecifiedMatching +OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch MONDO:0013071 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch MONDO:0013072 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:98853 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching +OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch MONDO:0013073 semapv:UnspecifiedMatching +OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch Orphanet:448264 semapv:UnspecifiedMatching +OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C2931923 semapv:UnspecifiedMatching +OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C4552049 semapv:UnspecifiedMatching +OMIM:613001 encephalocraniocutaneous lipomatosis skos:exactMatch MONDO:0013074 semapv:UnspecifiedMatching +OMIM:613002 immunodeficiency 83, susceptibility to viral infections skos:exactMatch MONDO:0800187 semapv:UnspecifiedMatching +OMIM:613003 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch MONDO:0013076 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch UMLS:C1415504 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch UMLS:C4479491 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch hgnc.symbol:4851 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch hgnc.symbol:HTT semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch ncbigene:3064 semapv:UnspecifiedMatching +OMIM:613005 santos syndrome skos:exactMatch MONDO:0013077 semapv:UnspecifiedMatching +OMIM:613006 iia 1 diabetes mellitus 24 skos:exactMatch MONDO:0013078 semapv:UnspecifiedMatching +OMIM:613006 iia 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching +OMIM:613007 biliary cirrhosis, primary, 2 skos:exactMatch MONDO:0013079 semapv:UnspecifiedMatching +OMIM:613008 biliary cirrhosis, primary, 3 skos:exactMatch MONDO:0013080 semapv:UnspecifiedMatching +OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:30605 semapv:UnspecifiedMatching +OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:SEPSECS semapv:UnspecifiedMatching +OMIM:613009 SEPSECS skos:exactMatch ncbigene:51091 semapv:UnspecifiedMatching +OMIM:613010 RFK skos:exactMatch hgnc.symbol:30324 semapv:UnspecifiedMatching +OMIM:613010 RFK skos:exactMatch hgnc.symbol:RFK semapv:UnspecifiedMatching +OMIM:613010 RFK skos:exactMatch ncbigene:55312 semapv:UnspecifiedMatching +OMIM:613011 lymphoproliferative syndrome 1 skos:exactMatch MONDO:0013081 semapv:UnspecifiedMatching +OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:26444 semapv:UnspecifiedMatching +OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:UROC1 semapv:UnspecifiedMatching +OMIM:613012 UROC1 skos:exactMatch ncbigene:131669 semapv:UnspecifiedMatching +OMIM:613013 neuroblastoma, susceptibility to, 2 skos:exactMatch MONDO:0700041 semapv:UnspecifiedMatching +OMIM:613014 neuroblastoma, susceptibility to, 3 skos:exactMatch MONDO:0013083 semapv:UnspecifiedMatching +OMIM:613015 neuroblastoma, susceptibility to, 4 skos:exactMatch MONDO:0013084 semapv:UnspecifiedMatching +OMIM:613016 neuroblastoma, susceptibility to, 5 skos:exactMatch MONDO:0013085 semapv:UnspecifiedMatching +OMIM:613017 neuroblastoma, susceptibility to, 6 skos:exactMatch MONDO:0013086 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch UMLS:C1420590 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch hgnc.symbol:11573 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch hgnc.symbol:TAT semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch ncbigene:6898 semapv:UnspecifiedMatching +OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:26034 semapv:UnspecifiedMatching +OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:SDHAF2 semapv:UnspecifiedMatching +OMIM:613019 SDHAF2 skos:exactMatch ncbigene:54949 semapv:UnspecifiedMatching +OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch MONDO:0013087 semapv:UnspecifiedMatching +OMIM:613022 OGDH skos:exactMatch hgnc.symbol:8124 semapv:UnspecifiedMatching +OMIM:613022 OGDH skos:exactMatch hgnc.symbol:OGDH semapv:UnspecifiedMatching +OMIM:613022 OGDH skos:exactMatch ncbigene:4967 semapv:UnspecifiedMatching +OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:28920 semapv:UnspecifiedMatching +OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:CEP170 semapv:UnspecifiedMatching +OMIM:613023 CEP170 skos:exactMatch ncbigene:9859 semapv:UnspecifiedMatching +OMIM:613024 follicular lymphoma, susceptibility to, 1 skos:exactMatch MONDO:0013088 semapv:UnspecifiedMatching +OMIM:613025 schizophrenia 13 skos:exactMatch MONDO:0013089 semapv:UnspecifiedMatching +OMIM:613026 chromosome 19q13.11 deletion syndrome, distal skos:exactMatch MONDO:0700107 semapv:UnspecifiedMatching +OMIM:613027 glycogen storage disease ixc skos:exactMatch MONDO:0013091 semapv:UnspecifiedMatching +OMIM:613028 glioma susceptibility 2 skos:exactMatch MONDO:0013092 semapv:UnspecifiedMatching +OMIM:613029 glioma susceptibility 3 skos:exactMatch MONDO:0013093 semapv:UnspecifiedMatching +OMIM:613030 glioma susceptibility 5 skos:exactMatch MONDO:0013094 semapv:UnspecifiedMatching +OMIM:613031 glioma susceptibility 6 skos:exactMatch MONDO:0013095 semapv:UnspecifiedMatching +OMIM:613032 glioma susceptibility 7 skos:exactMatch MONDO:0013096 semapv:UnspecifiedMatching +OMIM:613033 glioma susceptibility 8 skos:exactMatch MONDO:0013097 semapv:UnspecifiedMatching +OMIM:613035 hearing loss, noise-induced, susceptibility to skos:exactMatch MONDO:0957560 semapv:UnspecifiedMatching +OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:18667 semapv:UnspecifiedMatching +OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:PMPCA semapv:UnspecifiedMatching +OMIM:613036 PMPCA skos:exactMatch ncbigene:23203 semapv:UnspecifiedMatching +OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:21474 semapv:UnspecifiedMatching +OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:INPP5E semapv:UnspecifiedMatching +OMIM:613037 INPP5E skos:exactMatch ncbigene:56623 semapv:UnspecifiedMatching +OMIM:613038 pituitary hormone deficiency, combined or isolated, 1 skos:exactMatch MONDO:0024464 semapv:UnspecifiedMatching +OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:1916 semapv:UnspecifiedMatching +OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:CHD1L semapv:UnspecifiedMatching +OMIM:613039 CHD1L skos:exactMatch ncbigene:9557 semapv:UnspecifiedMatching +OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:28416 semapv:UnspecifiedMatching +OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:CCDC26 semapv:UnspecifiedMatching +OMIM:613040 CCDC26 skos:exactMatch ncbigene:137196 semapv:UnspecifiedMatching +OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:25526 semapv:UnspecifiedMatching +OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:FAM90A1 semapv:UnspecifiedMatching +OMIM:613041 FAM90A1 skos:exactMatch ncbigene:55138 semapv:UnspecifiedMatching +OMIM:613042 FAM90A3 skos:exactMatch hgnc.symbol:FAM90A3 semapv:UnspecifiedMatching +OMIM:613042 FAM90A3 skos:exactMatch ncbigene:389611 semapv:UnspecifiedMatching +OMIM:613043 FAM90A5 skos:exactMatch hgnc.symbol:FAM90A5 semapv:UnspecifiedMatching +OMIM:613043 FAM90A5 skos:exactMatch ncbigene:441315 semapv:UnspecifiedMatching +OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:32255 semapv:UnspecifiedMatching +OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:FAM90A7 semapv:UnspecifiedMatching +OMIM:613044 FAM90A7 skos:exactMatch ncbigene:441317 semapv:UnspecifiedMatching +OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:32256 semapv:UnspecifiedMatching +OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:FAM90A8 semapv:UnspecifiedMatching +OMIM:613045 FAM90A8 skos:exactMatch ncbigene:441324 semapv:UnspecifiedMatching +OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:32257 semapv:UnspecifiedMatching +OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:FAM90A9 semapv:UnspecifiedMatching +OMIM:613046 FAM90A9 skos:exactMatch ncbigene:441327 semapv:UnspecifiedMatching +OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:32258 semapv:UnspecifiedMatching +OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:FAM90A10 semapv:UnspecifiedMatching +OMIM:613047 FAM90A10 skos:exactMatch ncbigene:441328 semapv:UnspecifiedMatching +OMIM:613048 FAM90A12 skos:exactMatch hgnc.symbol:FAM90A12 semapv:UnspecifiedMatching +OMIM:613048 FAM90A12 skos:exactMatch ncbigene:645879 semapv:UnspecifiedMatching +OMIM:613049 FAM90A13 skos:exactMatch hgnc.symbol:FAM90A13 semapv:UnspecifiedMatching +OMIM:613049 FAM90A13 skos:exactMatch ncbigene:441314 semapv:UnspecifiedMatching +OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:32262 semapv:UnspecifiedMatching +OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:FAM90A14 semapv:UnspecifiedMatching +OMIM:613050 FAM90A14 skos:exactMatch ncbigene:645651 semapv:UnspecifiedMatching +OMIM:613051 FAM90A15 skos:exactMatch hgnc.symbol:FAM90A15 semapv:UnspecifiedMatching +OMIM:613051 FAM90A15 skos:exactMatch ncbigene:389630 semapv:UnspecifiedMatching +OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:32266 semapv:UnspecifiedMatching +OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:FAM90A18 semapv:UnspecifiedMatching +OMIM:613052 FAM90A18 skos:exactMatch ncbigene:441326 semapv:UnspecifiedMatching +OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:32267 semapv:UnspecifiedMatching +OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:FAM90A19 semapv:UnspecifiedMatching +OMIM:613053 FAM90A19 skos:exactMatch ncbigene:728753 semapv:UnspecifiedMatching +OMIM:613054 FAM90A20 skos:exactMatch hgnc.symbol:FAM90A20 semapv:UnspecifiedMatching +OMIM:613054 FAM90A20 skos:exactMatch ncbigene:728430 semapv:UnspecifiedMatching +OMIM:613055 atrial fibrillation, familial, 8 skos:exactMatch MONDO:0013100 semapv:UnspecifiedMatching +OMIM:613056 LUC7L2 skos:exactMatch UMLS:C1427644 semapv:UnspecifiedMatching +OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:21608 semapv:UnspecifiedMatching +OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:LUC7L2 semapv:UnspecifiedMatching +OMIM:613056 LUC7L2 skos:exactMatch ncbigene:51631 semapv:UnspecifiedMatching +OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:31611 semapv:UnspecifiedMatching +OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:MIR26A2 semapv:UnspecifiedMatching +OMIM:613057 MIR26A2 skos:exactMatch ncbigene:407016 semapv:UnspecifiedMatching +OMIM:613058 basal cell carcinoma, susceptibility to, 2 skos:exactMatch MONDO:0013101 semapv:UnspecifiedMatching +OMIM:613059 basal cell carcinoma, susceptibility to, 3 skos:exactMatch MONDO:0013102 semapv:UnspecifiedMatching +OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch MONDO:0013103 semapv:UnspecifiedMatching +OMIM:613061 basal cell carcinoma, susceptibility to, 4 skos:exactMatch MONDO:0013104 semapv:UnspecifiedMatching +OMIM:613062 basal cell carcinoma, susceptibility to, 5 skos:exactMatch MONDO:0013105 semapv:UnspecifiedMatching +OMIM:613063 basal cell carcinoma, susceptibility to, 6 skos:exactMatch MONDO:0013106 semapv:UnspecifiedMatching +OMIM:613064 dermatitis, atopic, 7 skos:exactMatch MONDO:0013107 semapv:UnspecifiedMatching +OMIM:613065 leukemia, acute lymphoblastic skos:exactMatch MONDO:0013108 semapv:UnspecifiedMatching +OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:16714 semapv:UnspecifiedMatching +OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:PKNOX2 semapv:UnspecifiedMatching +OMIM:613066 PKNOX2 skos:exactMatch ncbigene:63876 semapv:UnspecifiedMatching +OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 skos:exactMatch MONDO:0013109 semapv:UnspecifiedMatching +OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch MONDO:0013110 semapv:UnspecifiedMatching +OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching +OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching +OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:18250 semapv:UnspecifiedMatching +OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:PHF10 semapv:UnspecifiedMatching +OMIM:613069 PHF10 skos:exactMatch ncbigene:55274 semapv:UnspecifiedMatching +OMIM:613070 liver failure, infantile, transient skos:exactMatch MONDO:0013111 semapv:UnspecifiedMatching +OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch MONDO:0013112 semapv:UnspecifiedMatching +OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:26521 semapv:UnspecifiedMatching +OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:LOXHD1 semapv:UnspecifiedMatching +OMIM:613072 LOXHD1 skos:exactMatch ncbigene:125336 semapv:UnspecifiedMatching +OMIM:613073 metaphyseal anadysplasia 2 skos:exactMatch MONDO:0013113 semapv:UnspecifiedMatching +OMIM:613074 deafness, autosomal dominant 50 skos:exactMatch MONDO:0013114 semapv:UnspecifiedMatching +OMIM:613075 macs syndrome skos:exactMatch MONDO:0013115 semapv:UnspecifiedMatching +OMIM:613075 macs syndrome skos:exactMatch Orphanet:217335 semapv:UnspecifiedMatching +OMIM:613075 macs syndrome skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching +OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch MONDO:0013116 semapv:UnspecifiedMatching +OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching +OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching +OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch MONDO:0013117 semapv:UnspecifiedMatching +OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching +OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching +OMIM:613078 nijmegen breakage syndrome-like disorder skos:exactMatch MONDO:0013118 semapv:UnspecifiedMatching +OMIM:613079 deafness, autosomal recessive 77 skos:exactMatch MONDO:0013119 semapv:UnspecifiedMatching +OMIM:613080 46,xy sex reversal 5 skos:exactMatch MONDO:0013120 semapv:UnspecifiedMatching +OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:21577 semapv:UnspecifiedMatching +OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:KDM1B semapv:UnspecifiedMatching +OMIM:613081 KDM1B skos:exactMatch ncbigene:221656 semapv:UnspecifiedMatching +OMIM:613082 ATP2C2 skos:exactMatch UMLS:C1825505 semapv:UnspecifiedMatching +OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:29103 semapv:UnspecifiedMatching +OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:ATP2C2 semapv:UnspecifiedMatching +OMIM:613082 ATP2C2 skos:exactMatch ncbigene:9914 semapv:UnspecifiedMatching +OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:13082 semapv:UnspecifiedMatching +OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:LTN1 semapv:UnspecifiedMatching +OMIM:613083 LTN1 skos:exactMatch ncbigene:26046 semapv:UnspecifiedMatching +OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:7623 semapv:UnspecifiedMatching +OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:MYT1L semapv:UnspecifiedMatching +OMIM:613084 MYT1L skos:exactMatch ncbigene:23040 semapv:UnspecifiedMatching +OMIM:613085 glaucoma 3, primary congenital, c skos:exactMatch MONDO:0013121 semapv:UnspecifiedMatching +OMIM:613086 glaucoma 3, primary congenital, d skos:exactMatch MONDO:0013122 semapv:UnspecifiedMatching +OMIM:613087 atrial septal defect 6 skos:exactMatch MONDO:0013123 semapv:UnspecifiedMatching +OMIM:613088 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch MONDO:0013124 semapv:UnspecifiedMatching +OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth skos:exactMatch MONDO:0013125 semapv:UnspecifiedMatching +OMIM:613090 bartter syndrome, iia 4b, neonatal, with sensorineural deafness skos:exactMatch MONDO:0000909 semapv:UnspecifiedMatching +OMIM:613091 short-rib thoracic dysplasia 3 with or without polydactyly skos:exactMatch MONDO:0013127 semapv:UnspecifiedMatching +OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 skos:exactMatch MONDO:0013128 semapv:UnspecifiedMatching +OMIM:613093 cone dystrophy 4 skos:exactMatch MONDO:0013129 semapv:UnspecifiedMatching +OMIM:613094 microphthalmia, isolated 4 skos:exactMatch MONDO:0013130 semapv:UnspecifiedMatching +OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease skos:exactMatch MONDO:0013131 semapv:UnspecifiedMatching +OMIM:613096 spastic paraplegia 36, autosomal dominant skos:exactMatch MONDO:0013132 semapv:UnspecifiedMatching +OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch MONDO:0013133 semapv:UnspecifiedMatching +OMIM:613100 glaucoma 1, open angle, o skos:exactMatch MONDO:0013134 semapv:UnspecifiedMatching +OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch MONDO:0013135 semapv:UnspecifiedMatching +OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching +OMIM:613102 hypotrichosis and recurrent skin vesicles skos:exactMatch MONDO:0013136 semapv:UnspecifiedMatching +OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:29389 semapv:UnspecifiedMatching +OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:SRRM4 semapv:UnspecifiedMatching +OMIM:613103 SRRM4 skos:exactMatch ncbigene:84530 semapv:UnspecifiedMatching +OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:1365 semapv:UnspecifiedMatching +OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:CACFD1 semapv:UnspecifiedMatching +OMIM:613104 CACFD1 skos:exactMatch ncbigene:11094 semapv:UnspecifiedMatching +OMIM:613105 choroidal dystrophy, central areolar 2 skos:exactMatch MONDO:0013137 semapv:UnspecifiedMatching +OMIM:613106 vertigo, benign recurrent, 2 skos:exactMatch MONDO:0013138 semapv:UnspecifiedMatching +OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch MONDO:0013139 semapv:UnspecifiedMatching +OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching +OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching +OMIM:613108 candidiasis, familial, 4 skos:exactMatch MONDO:0013140 semapv:UnspecifiedMatching +OMIM:613109 GM2A skos:exactMatch hgnc.symbol:4367 semapv:UnspecifiedMatching +OMIM:613109 GM2A skos:exactMatch hgnc.symbol:GM2A semapv:UnspecifiedMatching +OMIM:613109 GM2A skos:exactMatch ncbigene:2760 semapv:UnspecifiedMatching +OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:1055 semapv:UnspecifiedMatching +OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:BLCAP semapv:UnspecifiedMatching +OMIM:613110 BLCAP skos:exactMatch ncbigene:10904 semapv:UnspecifiedMatching +OMIM:613111 CTSA skos:exactMatch hgnc.symbol:9251 semapv:UnspecifiedMatching +OMIM:613111 CTSA skos:exactMatch hgnc.symbol:CTSA semapv:UnspecifiedMatching +OMIM:613111 CTSA skos:exactMatch ncbigene:5476 semapv:UnspecifiedMatching +OMIM:613112 macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch MONDO:0800047 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C0085113 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch UMLS:C4225458 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch hgnc.symbol:7765 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch hgnc.symbol:NF1 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch ncbigene:4763 semapv:UnspecifiedMatching +OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:25964 semapv:UnspecifiedMatching +OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:RETREG1 semapv:UnspecifiedMatching +OMIM:613114 RETREG1 skos:exactMatch ncbigene:54463 semapv:UnspecifiedMatching +OMIM:613115 neuropathy, hereditary sensory and autonomic, iia 2b skos:exactMatch MONDO:0013142 semapv:UnspecifiedMatching +OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency skos:exactMatch MONDO:0013143 semapv:UnspecifiedMatching +OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:10200 semapv:UnspecifiedMatching +OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:SNORD50A semapv:UnspecifiedMatching +OMIM:613117 SNORD50A skos:exactMatch ncbigene:26799 semapv:UnspecifiedMatching +OMIM:613118 antithrombin 3 deficiency skos:exactMatch MONDO:0013144 semapv:UnspecifiedMatching +OMIM:613119 brugada syndrome 6 skos:exactMatch MONDO:0013145 semapv:UnspecifiedMatching +OMIM:613120 brugada syndrome 7 skos:exactMatch MONDO:0013146 semapv:UnspecifiedMatching +OMIM:613121 NEXN skos:exactMatch hgnc.symbol:29557 semapv:UnspecifiedMatching +OMIM:613121 NEXN skos:exactMatch hgnc.symbol:NEXN semapv:UnspecifiedMatching +OMIM:613121 NEXN skos:exactMatch ncbigene:91624 semapv:UnspecifiedMatching +OMIM:613122 cardiomyopathy, dilated, 1cc skos:exactMatch MONDO:0013147 semapv:UnspecifiedMatching +OMIM:613123 brugada syndrome 8 skos:exactMatch MONDO:0013148 semapv:UnspecifiedMatching +OMIM:613124 hydrops fetalis, nonimmune, with gracile bones and dysmorphism skos:exactMatch MONDO:0013149 semapv:UnspecifiedMatching +OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:1167 semapv:UnspecifiedMatching +OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:NRIP3 semapv:UnspecifiedMatching +OMIM:613125 NRIP3 skos:exactMatch ncbigene:56675 semapv:UnspecifiedMatching +OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:24472 semapv:UnspecifiedMatching +OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:PSRC1 semapv:UnspecifiedMatching +OMIM:613126 PSRC1 skos:exactMatch ncbigene:84722 semapv:UnspecifiedMatching +OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:24168 semapv:UnspecifiedMatching +OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:CHRDL2 semapv:UnspecifiedMatching +OMIM:613127 CHRDL2 skos:exactMatch ncbigene:25884 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch UMLS:C1428560 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch UMLS:C4479220 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch hgnc.symbol:26200 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch hgnc.symbol:STN1 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch ncbigene:79991 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch UMLS:C1824460 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch UMLS:C4552029 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:26169 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:CTC1 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch ncbigene:80169 semapv:UnspecifiedMatching +OMIM:613130 TEN1 skos:exactMatch UMLS:C2751072 semapv:UnspecifiedMatching +OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:37242 semapv:UnspecifiedMatching +OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:TEN1 semapv:UnspecifiedMatching +OMIM:613130 TEN1 skos:exactMatch ncbigene:100134934 semapv:UnspecifiedMatching +OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:27645 semapv:UnspecifiedMatching +OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:MIR449A semapv:UnspecifiedMatching +OMIM:613131 MIR449A skos:exactMatch ncbigene:554213 semapv:UnspecifiedMatching +OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:32794 semapv:UnspecifiedMatching +OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:MIR449B semapv:UnspecifiedMatching +OMIM:613132 MIR449B skos:exactMatch ncbigene:693123 semapv:UnspecifiedMatching +OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:20659 semapv:UnspecifiedMatching +OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:TSPAN2 semapv:UnspecifiedMatching +OMIM:613133 TSPAN2 skos:exactMatch ncbigene:10100 semapv:UnspecifiedMatching +OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:17752 semapv:UnspecifiedMatching +OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:TSPAN3 semapv:UnspecifiedMatching +OMIM:613134 TSPAN3 skos:exactMatch ncbigene:10099 semapv:UnspecifiedMatching +OMIM:613135 parkinsonism-dystonia 1, infantile-onset skos:exactMatch MONDO:0054835 semapv:UnspecifiedMatching +OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:17753 semapv:UnspecifiedMatching +OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:TSPAN5 semapv:UnspecifiedMatching +OMIM:613136 TSPAN5 skos:exactMatch ncbigene:10098 semapv:UnspecifiedMatching +OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:21640 semapv:UnspecifiedMatching +OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:TSPAN9 semapv:UnspecifiedMatching +OMIM:613137 TSPAN9 skos:exactMatch ncbigene:10867 semapv:UnspecifiedMatching +OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:21641 semapv:UnspecifiedMatching +OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:TSPAN12 semapv:UnspecifiedMatching +OMIM:613138 TSPAN12 skos:exactMatch ncbigene:23554 semapv:UnspecifiedMatching +OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:21643 semapv:UnspecifiedMatching +OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:TSPAN13 semapv:UnspecifiedMatching +OMIM:613139 TSPAN13 skos:exactMatch ncbigene:27075 semapv:UnspecifiedMatching +OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:23298 semapv:UnspecifiedMatching +OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:TSPAN15 semapv:UnspecifiedMatching +OMIM:613140 TSPAN15 skos:exactMatch ncbigene:23555 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch UMLS:C1423876 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:15973 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:DTX2 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch ncbigene:113878 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch UMLS:C1428375 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:24457 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:DTX3 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch ncbigene:196403 semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch UMLS:C1539313 semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:30323 semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:DTX3L semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch ncbigene:151636 semapv:UnspecifiedMatching +OMIM:613144 choroidal dystrophy, central areolar, 3 skos:exactMatch MONDO:0013151 semapv:UnspecifiedMatching +OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch MONDO:0013152 semapv:UnspecifiedMatching +OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:31555 semapv:UnspecifiedMatching +OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:MIR184 semapv:UnspecifiedMatching +OMIM:613146 MIR184 skos:exactMatch ncbigene:406960 semapv:UnspecifiedMatching +OMIM:613147 MIR205 skos:exactMatch hgnc.symbol:31583 semapv:UnspecifiedMatching +OMIM:613147 MIR205 skos:exactMatch hgnc.symbol:MIR205 semapv:UnspecifiedMatching +OMIM:613147 MIR205 skos:exactMatch ncbigene:406988 semapv:UnspecifiedMatching +OMIM:613148 inflammatory bowel disease 28, autosomal recessive skos:exactMatch MONDO:0013153 semapv:UnspecifiedMatching +OMIM:613149 CDKN2BAS skos:exactMatch hgnc.symbol:34341 semapv:UnspecifiedMatching +OMIM:613149 CDKN2BAS skos:exactMatch hgnc.symbol:CDKN2B-AS1 semapv:UnspecifiedMatching +OMIM:613149 CDKN2BAS skos:exactMatch ncbigene:100048912 semapv:UnspecifiedMatching +OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch MONDO:0013154 semapv:UnspecifiedMatching +OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching +OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch MONDO:0013155 semapv:UnspecifiedMatching +OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching +OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch MONDO:0013156 semapv:UnspecifiedMatching +OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching +OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching +OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch MONDO:0013157 semapv:UnspecifiedMatching +OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching +OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch MONDO:0013158 semapv:UnspecifiedMatching +OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching +OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch MONDO:0013159 semapv:UnspecifiedMatching +OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch UMLS:C3150415 semapv:UnspecifiedMatching +OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch MONDO:0013160 semapv:UnspecifiedMatching +OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching +OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch MONDO:0013161 semapv:UnspecifiedMatching +OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch Orphanet:206564 semapv:UnspecifiedMatching +OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching +OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch MONDO:0013162 semapv:UnspecifiedMatching +OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch Orphanet:206559 semapv:UnspecifiedMatching +OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching +OMIM:613159 nephronophthisis-like nephropathy 1 skos:exactMatch MONDO:0013163 semapv:UnspecifiedMatching +OMIM:613160 VWF skos:exactMatch hgnc.symbol:12726 semapv:UnspecifiedMatching +OMIM:613160 VWF skos:exactMatch hgnc.symbol:VWF semapv:UnspecifiedMatching +OMIM:613160 VWF skos:exactMatch ncbigene:7450 semapv:UnspecifiedMatching +OMIM:613161 beta-ureidopropionase deficiency skos:exactMatch MONDO:0013164 semapv:UnspecifiedMatching +OMIM:613162 spastic paraplegia 45, autosomal recessive skos:exactMatch MONDO:0013165 semapv:UnspecifiedMatching +OMIM:613163 gaba-transaminase deficiency skos:exactMatch MONDO:0013166 semapv:UnspecifiedMatching +OMIM:613164 parkinson disease 16 skos:exactMatch MONDO:0013167 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch UMLS:C1538435 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch UMLS:C4017299 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch UMLS:C4540251 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch hgnc.symbol:19721 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch hgnc.symbol:CANT1 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch ncbigene:124583 semapv:UnspecifiedMatching +OMIM:613166 DCLK2 skos:exactMatch hgnc.symbol:19002 semapv:UnspecifiedMatching +OMIM:613166 DCLK2 skos:exactMatch hgnc.symbol:DCLK2 semapv:UnspecifiedMatching +OMIM:613166 DCLK2 skos:exactMatch ncbigene:166614 semapv:UnspecifiedMatching +OMIM:613167 DCLK3 skos:exactMatch hgnc.symbol:19005 semapv:UnspecifiedMatching +OMIM:613167 DCLK3 skos:exactMatch hgnc.symbol:DCLK3 semapv:UnspecifiedMatching +OMIM:613167 DCLK3 skos:exactMatch ncbigene:85443 semapv:UnspecifiedMatching +OMIM:613168 SERPINF2 skos:exactMatch hgnc.symbol:9075 semapv:UnspecifiedMatching +OMIM:613168 SERPINF2 skos:exactMatch hgnc.symbol:SERPINF2 semapv:UnspecifiedMatching +OMIM:613168 SERPINF2 skos:exactMatch ncbigene:5345 semapv:UnspecifiedMatching +OMIM:613169 KLHDC8B skos:exactMatch hgnc.symbol:28557 semapv:UnspecifiedMatching +OMIM:613169 KLHDC8B skos:exactMatch hgnc.symbol:KLHDC8B semapv:UnspecifiedMatching +OMIM:613169 KLHDC8B skos:exactMatch ncbigene:200942 semapv:UnspecifiedMatching +OMIM:613170 TSPAN1 skos:exactMatch hgnc.symbol:20657 semapv:UnspecifiedMatching +OMIM:613170 TSPAN1 skos:exactMatch hgnc.symbol:TSPAN1 semapv:UnspecifiedMatching +OMIM:613170 TSPAN1 skos:exactMatch ncbigene:10103 semapv:UnspecifiedMatching +OMIM:613171 RBM20 skos:exactMatch hgnc.symbol:27424 semapv:UnspecifiedMatching +OMIM:613171 RBM20 skos:exactMatch hgnc.symbol:RBM20 semapv:UnspecifiedMatching +OMIM:613171 RBM20 skos:exactMatch ncbigene:282996 semapv:UnspecifiedMatching +OMIM:613172 cardiomyopathy, dilated, 1dd skos:exactMatch MONDO:0013168 semapv:UnspecifiedMatching +OMIM:613173 NEGR1 skos:exactMatch hgnc.symbol:17302 semapv:UnspecifiedMatching +OMIM:613173 NEGR1 skos:exactMatch hgnc.symbol:NEGR1 semapv:UnspecifiedMatching +OMIM:613173 NEGR1 skos:exactMatch ncbigene:257194 semapv:UnspecifiedMatching +OMIM:613174 chromosome 5p13 duplication syndrome skos:exactMatch MONDO:0013169 semapv:UnspecifiedMatching +OMIM:613175 SMG8 skos:exactMatch UMLS:C1824463 semapv:UnspecifiedMatching +OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:25551 semapv:UnspecifiedMatching +OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:SMG8 semapv:UnspecifiedMatching +OMIM:613175 SMG8 skos:exactMatch ncbigene:55181 semapv:UnspecifiedMatching +OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:25763 semapv:UnspecifiedMatching +OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:SMG9 semapv:UnspecifiedMatching +OMIM:613176 SMG9 skos:exactMatch ncbigene:56006 semapv:UnspecifiedMatching +OMIM:613177 cutis laxa, autosomal recessive, iia 1c skos:exactMatch MONDO:0013170 semapv:UnspecifiedMatching +OMIM:613178 CTIF skos:exactMatch hgnc.symbol:23925 semapv:UnspecifiedMatching +OMIM:613178 CTIF skos:exactMatch hgnc.symbol:CTIF semapv:UnspecifiedMatching +OMIM:613178 CTIF skos:exactMatch ncbigene:9811 semapv:UnspecifiedMatching +OMIM:613179 purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 semapv:UnspecifiedMatching +OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:24263 semapv:UnspecifiedMatching +OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:BOLA1 semapv:UnspecifiedMatching +OMIM:613181 BOLA1 skos:exactMatch ncbigene:51027 semapv:UnspecifiedMatching +OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:29488 semapv:UnspecifiedMatching +OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:BOLA2 semapv:UnspecifiedMatching +OMIM:613182 BOLA2 skos:exactMatch ncbigene:552900 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch UMLS:C1826629 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:24415 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:BOLA3 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch ncbigene:388962 semapv:UnspecifiedMatching +OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:21161 semapv:UnspecifiedMatching +OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:TRIM68 semapv:UnspecifiedMatching +OMIM:613184 TRIM68 skos:exactMatch ncbigene:55128 semapv:UnspecifiedMatching +OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:31647 semapv:UnspecifiedMatching +OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:MIR95 semapv:UnspecifiedMatching +OMIM:613185 MIR95 skos:exactMatch ncbigene:407052 semapv:UnspecifiedMatching +OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:31487 semapv:UnspecifiedMatching +OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:MIR100 semapv:UnspecifiedMatching +OMIM:613186 MIR100 skos:exactMatch ncbigene:406892 semapv:UnspecifiedMatching +OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:31490 semapv:UnspecifiedMatching +OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:MIR103A1 semapv:UnspecifiedMatching +OMIM:613187 MIR103-1 skos:exactMatch ncbigene:406895 semapv:UnspecifiedMatching +OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:31491 semapv:UnspecifiedMatching +OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:MIR103A2 semapv:UnspecifiedMatching +OMIM:613188 MIR103-2 skos:exactMatch ncbigene:406896 semapv:UnspecifiedMatching +OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:31496 semapv:UnspecifiedMatching +OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:MIR107 semapv:UnspecifiedMatching +OMIM:613189 MIR107 skos:exactMatch ncbigene:406901 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch UMLS:C1825897 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch UMLS:C2750790 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:30539 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:DNAAF1 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch ncbigene:123872 semapv:UnspecifiedMatching +OMIM:613191 DUSP13 skos:exactMatch hgnc.symbol:DUSP13B semapv:UnspecifiedMatching +OMIM:613191 DUSP13 skos:exactMatch ncbigene:51207 semapv:UnspecifiedMatching +OMIM:613192 intellectual developmental disorder, autosomal recessive 13 skos:exactMatch MONDO:0013173 semapv:UnspecifiedMatching +OMIM:613193 ciliary dyskinesia, primary, 13 skos:exactMatch MONDO:0013174 semapv:UnspecifiedMatching +OMIM:613194 retinitis pigmentosa 50 skos:exactMatch MONDO:0013175 semapv:UnspecifiedMatching +OMIM:613195 weill-marchesani syndrome 4 skos:exactMatch MONDO:0013176 semapv:UnspecifiedMatching +OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:24648 semapv:UnspecifiedMatching +OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:ETAA1 semapv:UnspecifiedMatching +OMIM:613196 ETAA1 skos:exactMatch ncbigene:54465 semapv:UnspecifiedMatching +OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:24808 semapv:UnspecifiedMatching +OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:TRAFD1 semapv:UnspecifiedMatching +OMIM:613197 TRAFD1 skos:exactMatch ncbigene:10906 semapv:UnspecifiedMatching +OMIM:613198 KMT5C skos:exactMatch UMLS:C1539901 semapv:UnspecifiedMatching +OMIM:613198 KMT5C skos:exactMatch hgnc.symbol:28405 semapv:UnspecifiedMatching +OMIM:613198 KMT5C skos:exactMatch hgnc.symbol:KMT5C semapv:UnspecifiedMatching +OMIM:613198 KMT5C skos:exactMatch ncbigene:84787 semapv:UnspecifiedMatching +OMIM:613199 TAOK2 skos:exactMatch hgnc.symbol:16835 semapv:UnspecifiedMatching +OMIM:613199 TAOK2 skos:exactMatch hgnc.symbol:TAOK2 semapv:UnspecifiedMatching +OMIM:613199 TAOK2 skos:exactMatch ncbigene:9344 semapv:UnspecifiedMatching +OMIM:613200 PDS5A skos:exactMatch UMLS:C2239805 semapv:UnspecifiedMatching +OMIM:613200 PDS5A skos:exactMatch hgnc.symbol:29088 semapv:UnspecifiedMatching +OMIM:613200 PDS5A skos:exactMatch hgnc.symbol:PDS5A semapv:UnspecifiedMatching +OMIM:613200 PDS5A skos:exactMatch ncbigene:23244 semapv:UnspecifiedMatching +OMIM:613201 CHTF18 skos:exactMatch UMLS:C1425513 semapv:UnspecifiedMatching +OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:18435 semapv:UnspecifiedMatching +OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:CHTF18 semapv:UnspecifiedMatching +OMIM:613201 CHTF18 skos:exactMatch ncbigene:63922 semapv:UnspecifiedMatching +OMIM:613202 CHTF8 skos:exactMatch UMLS:C2681361 semapv:UnspecifiedMatching +OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:24353 semapv:UnspecifiedMatching +OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:CHTF8 semapv:UnspecifiedMatching +OMIM:613202 CHTF8 skos:exactMatch ncbigene:54921 semapv:UnspecifiedMatching +OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:24453 semapv:UnspecifiedMatching +OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:DSCC1 semapv:UnspecifiedMatching +OMIM:613203 DSCC1 skos:exactMatch ncbigene:79075 semapv:UnspecifiedMatching +OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency skos:exactMatch MONDO:0013177 semapv:UnspecifiedMatching +OMIM:613205 muscular dystrophy, congenital, lmna-related skos:exactMatch MONDO:0013178 semapv:UnspecifiedMatching +OMIM:613206 spastic paraplegia 44, autosomal recessive skos:exactMatch MONDO:0013179 semapv:UnspecifiedMatching +OMIM:613207 asthma-related traits, susceptibility to, 8 skos:exactMatch MONDO:0013180 semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch UMLS:C1421540 semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch hgnc.symbol:12816 semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch hgnc.symbol:XPC semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch ncbigene:7508 semapv:UnspecifiedMatching +OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:20958 semapv:UnspecifiedMatching +OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:TMEM181 semapv:UnspecifiedMatching +OMIM:613209 TMEM181 skos:exactMatch ncbigene:57583 semapv:UnspecifiedMatching +OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:25199 semapv:UnspecifiedMatching +OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:DPH7 semapv:UnspecifiedMatching +OMIM:613210 DPH7 skos:exactMatch ncbigene:92715 semapv:UnspecifiedMatching +OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 skos:exactMatch MONDO:0013181 semapv:UnspecifiedMatching +OMIM:613212 AARSD1 skos:exactMatch hgnc.symbol:28417 semapv:UnspecifiedMatching +OMIM:613212 AARSD1 skos:exactMatch hgnc.symbol:AARSD1 semapv:UnspecifiedMatching +OMIM:613212 AARSD1 skos:exactMatch ncbigene:80755 semapv:UnspecifiedMatching +OMIM:613213 CYB5R3 skos:exactMatch hgnc.symbol:2873 semapv:UnspecifiedMatching +OMIM:613213 CYB5R3 skos:exactMatch hgnc.symbol:CYB5R3 semapv:UnspecifiedMatching +OMIM:613213 CYB5R3 skos:exactMatch ncbigene:1727 semapv:UnspecifiedMatching +OMIM:613214 WDR72 skos:exactMatch hgnc.symbol:26790 semapv:UnspecifiedMatching +OMIM:613214 WDR72 skos:exactMatch hgnc.symbol:WDR72 semapv:UnspecifiedMatching +OMIM:613214 WDR72 skos:exactMatch ncbigene:256764 semapv:UnspecifiedMatching +OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome skos:exactMatch MONDO:0013182 semapv:UnspecifiedMatching +OMIM:613216 night blindness, congenital stationary, iia 1c skos:exactMatch MONDO:0013183 semapv:UnspecifiedMatching +OMIM:613217 diarrhea 5, with tufting enteropathy, congenital skos:exactMatch MONDO:0013184 semapv:UnspecifiedMatching +OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:2570 semapv:UnspecifiedMatching +OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:CYB5A semapv:UnspecifiedMatching +OMIM:613218 CYB5A skos:exactMatch ncbigene:1528 semapv:UnspecifiedMatching +OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C2750735 semapv:UnspecifiedMatching +OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C3150459 semapv:UnspecifiedMatching +OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:25257 semapv:UnspecifiedMatching +OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:TMEM18 semapv:UnspecifiedMatching +OMIM:613220 TMEM18 skos:exactMatch ncbigene:129787 semapv:UnspecifiedMatching +OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:17587 semapv:UnspecifiedMatching +OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:MTCH2 semapv:UnspecifiedMatching +OMIM:613221 MTCH2 skos:exactMatch ncbigene:23788 semapv:UnspecifiedMatching +OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:21526 semapv:UnspecifiedMatching +OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:GNPDA2 semapv:UnspecifiedMatching +OMIM:613222 GNPDA2 skos:exactMatch ncbigene:132789 semapv:UnspecifiedMatching +OMIM:613223 leprosy, susceptibility to, 5 skos:exactMatch MONDO:0013185 semapv:UnspecifiedMatching +OMIM:613224 noonan syndrome 6 skos:exactMatch MONDO:0013186 semapv:UnspecifiedMatching +OMIM:613225 factor xiii, a subunit, deficiency of skos:exactMatch MONDO:0013187 semapv:UnspecifiedMatching +OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:15981 semapv:UnspecifiedMatching +OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:ZNF296 semapv:UnspecifiedMatching +OMIM:613226 ZNF296 skos:exactMatch ncbigene:162979 semapv:UnspecifiedMatching +OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 skos:exactMatch MONDO:0013188 semapv:UnspecifiedMatching +OMIM:613228 AGA skos:exactMatch hgnc.symbol:318 semapv:UnspecifiedMatching +OMIM:613228 AGA skos:exactMatch hgnc.symbol:AGA semapv:UnspecifiedMatching +OMIM:613228 AGA skos:exactMatch ncbigene:175 semapv:UnspecifiedMatching +OMIM:613229 trichotillomania skos:exactMatch MONDO:0013189 semapv:UnspecifiedMatching +OMIM:613230 PEPD skos:exactMatch hgnc.symbol:8840 semapv:UnspecifiedMatching +OMIM:613230 PEPD skos:exactMatch hgnc.symbol:PEPD semapv:UnspecifiedMatching +OMIM:613230 PEPD skos:exactMatch ncbigene:5184 semapv:UnspecifiedMatching +OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:20226 semapv:UnspecifiedMatching +OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:KIF26A semapv:UnspecifiedMatching +OMIM:613231 KIF26A skos:exactMatch ncbigene:26153 semapv:UnspecifiedMatching +OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:28117 semapv:UnspecifiedMatching +OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:RBM42 semapv:UnspecifiedMatching +OMIM:613232 RBM42 skos:exactMatch ncbigene:79171 semapv:UnspecifiedMatching +OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:29260 semapv:UnspecifiedMatching +OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:NCEH1 semapv:UnspecifiedMatching +OMIM:613234 NCEH1 skos:exactMatch ncbigene:57552 semapv:UnspecifiedMatching +OMIM:613235 factor xiii, B subunit, deficiency of skos:exactMatch MONDO:0013190 semapv:UnspecifiedMatching +OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:39080 semapv:UnspecifiedMatching +OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:KCNJ18 semapv:UnspecifiedMatching +OMIM:613236 KCNJ18 skos:exactMatch ncbigene:100134444 semapv:UnspecifiedMatching +OMIM:613237 focal segmental glomerulosclerosis 5 skos:exactMatch MONDO:0013191 semapv:UnspecifiedMatching +OMIM:613238 spondyloarthropathy, susceptibility to, 3 skos:exactMatch MONDO:0013192 semapv:UnspecifiedMatching +OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch MONDO:0013193 semapv:UnspecifiedMatching +OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:14940 semapv:UnspecifiedMatching +OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:PPP1R1C semapv:UnspecifiedMatching +OMIM:613240 PPP1R1C skos:exactMatch ncbigene:151242 semapv:UnspecifiedMatching +OMIM:613241 pseudopili annulati skos:exactMatch MONDO:0013194 semapv:UnspecifiedMatching +OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:14952 semapv:UnspecifiedMatching +OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:PPP1R14C semapv:UnspecifiedMatching +OMIM:613242 PPP1R14C skos:exactMatch ncbigene:81706 semapv:UnspecifiedMatching +OMIM:613243 cardiomyopathy, familial hypertrophic, 13 skos:exactMatch MONDO:0013195 semapv:UnspecifiedMatching +OMIM:613244 lynch syndrome 8 skos:exactMatch MONDO:0013196 semapv:UnspecifiedMatching +OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:14947 semapv:UnspecifiedMatching +OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:PPP1R12C semapv:UnspecifiedMatching +OMIM:613245 PPP1R12C skos:exactMatch ncbigene:54776 semapv:UnspecifiedMatching +OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:9286 semapv:UnspecifiedMatching +OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:PPP1R1A semapv:UnspecifiedMatching +OMIM:613246 PPP1R1A skos:exactMatch ncbigene:5502 semapv:UnspecifiedMatching +OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:29393 semapv:UnspecifiedMatching +OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:PLIN4 semapv:UnspecifiedMatching +OMIM:613247 PLIN4 skos:exactMatch ncbigene:729359 semapv:UnspecifiedMatching +OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:33196 semapv:UnspecifiedMatching +OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:PLIN5 semapv:UnspecifiedMatching +OMIM:613248 PLIN5 skos:exactMatch ncbigene:440503 semapv:UnspecifiedMatching +OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:39430 semapv:UnspecifiedMatching +OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:EBLN1 semapv:UnspecifiedMatching +OMIM:613249 EBLN1 skos:exactMatch ncbigene:340900 semapv:UnspecifiedMatching +OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:25493 semapv:UnspecifiedMatching +OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:EBLN2 semapv:UnspecifiedMatching +OMIM:613250 EBLN2 skos:exactMatch ncbigene:55096 semapv:UnspecifiedMatching +OMIM:613251 cardiomyopathy, familial hypertrophic, 14 skos:exactMatch MONDO:0013197 semapv:UnspecifiedMatching +OMIM:613252 cardiomyopathy, dilated, 1ee skos:exactMatch MONDO:0013198 semapv:UnspecifiedMatching +OMIM:613254 tuberous sclerosis 2 skos:exactMatch MONDO:0013199 semapv:UnspecifiedMatching +OMIM:613255 cardiomyopathy, familial hypertrophic, 15 skos:exactMatch MONDO:0013200 semapv:UnspecifiedMatching +OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:14953 semapv:UnspecifiedMatching +OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:PPP1R14D semapv:UnspecifiedMatching +OMIM:613256 PPP1R14D skos:exactMatch ncbigene:54866 semapv:UnspecifiedMatching +OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:14951 semapv:UnspecifiedMatching +OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:PPP1R15B semapv:UnspecifiedMatching +OMIM:613257 PPP1R15B skos:exactMatch ncbigene:84919 semapv:UnspecifiedMatching +OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:13796 semapv:UnspecifiedMatching +OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:C18orf54 semapv:UnspecifiedMatching +OMIM:613258 C18ORF54 skos:exactMatch ncbigene:162681 semapv:UnspecifiedMatching +OMIM:613259 RPTN skos:exactMatch hgnc.symbol:26809 semapv:UnspecifiedMatching +OMIM:613259 RPTN skos:exactMatch hgnc.symbol:RPTN semapv:UnspecifiedMatching +OMIM:613259 RPTN skos:exactMatch ncbigene:126638 semapv:UnspecifiedMatching +OMIM:613260 KPRP skos:exactMatch hgnc.symbol:31823 semapv:UnspecifiedMatching +OMIM:613260 KPRP skos:exactMatch hgnc.symbol:KPRP semapv:UnspecifiedMatching +OMIM:613260 KPRP skos:exactMatch ncbigene:448834 semapv:UnspecifiedMatching +OMIM:613261 PRTG skos:exactMatch hgnc.symbol:26373 semapv:UnspecifiedMatching +OMIM:613261 PRTG skos:exactMatch hgnc.symbol:PRTG semapv:UnspecifiedMatching +OMIM:613261 PRTG skos:exactMatch ncbigene:283659 semapv:UnspecifiedMatching +OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:18479 semapv:UnspecifiedMatching +OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:RSL24D1 semapv:UnspecifiedMatching +OMIM:613262 RSL24D1 skos:exactMatch ncbigene:51187 semapv:UnspecifiedMatching +OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:21026 semapv:UnspecifiedMatching +OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:SNHG5 semapv:UnspecifiedMatching +OMIM:613263 SNHG5 skos:exactMatch ncbigene:387066 semapv:UnspecifiedMatching +OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:32722 semapv:UnspecifiedMatching +OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:SNORD50B semapv:UnspecifiedMatching +OMIM:613264 SNORD50B skos:exactMatch ncbigene:692088 semapv:UnspecifiedMatching +OMIM:613265 waardenburg syndrome, iia 4b skos:exactMatch MONDO:0013201 semapv:UnspecifiedMatching +OMIM:613266 waardenburg syndrome, iia 4c skos:exactMatch MONDO:0013202 semapv:UnspecifiedMatching +OMIM:613267 corneal dystrophy, fuchs endothelial, 3 skos:exactMatch MONDO:0013203 semapv:UnspecifiedMatching +OMIM:613268 corneal dystrophy, fuchs endothelial, 4 skos:exactMatch MONDO:0013204 semapv:UnspecifiedMatching +OMIM:613269 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch MONDO:0013205 semapv:UnspecifiedMatching +OMIM:613270 corneal dystrophy, fuchs endothelial, 6 skos:exactMatch MONDO:0013206 semapv:UnspecifiedMatching +OMIM:613271 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch MONDO:0013207 semapv:UnspecifiedMatching +OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:21305 semapv:UnspecifiedMatching +OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:KCTD3 semapv:UnspecifiedMatching +OMIM:613272 KCTD3 skos:exactMatch ncbigene:51133 semapv:UnspecifiedMatching +OMIM:613273 INIP skos:exactMatch hgnc.symbol:24994 semapv:UnspecifiedMatching +OMIM:613273 INIP skos:exactMatch hgnc.symbol:INIP semapv:UnspecifiedMatching +OMIM:613273 INIP skos:exactMatch ncbigene:58493 semapv:UnspecifiedMatching +OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:18234 semapv:UnspecifiedMatching +OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:MOCOS semapv:UnspecifiedMatching +OMIM:613274 MOCOS skos:exactMatch ncbigene:55034 semapv:UnspecifiedMatching +OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:15850 semapv:UnspecifiedMatching +OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:PPP1R16B semapv:UnspecifiedMatching +OMIM:613275 PPP1R16B skos:exactMatch ncbigene:26051 semapv:UnspecifiedMatching +OMIM:613276 USB1 skos:exactMatch hgnc.symbol:25792 semapv:UnspecifiedMatching +OMIM:613276 USB1 skos:exactMatch hgnc.symbol:USB1 semapv:UnspecifiedMatching +OMIM:613276 USB1 skos:exactMatch ncbigene:79650 semapv:UnspecifiedMatching +OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:25018 semapv:UnspecifiedMatching +OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:TMEM216 semapv:UnspecifiedMatching +OMIM:613277 TMEM216 skos:exactMatch ncbigene:51259 semapv:UnspecifiedMatching +OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:23845 semapv:UnspecifiedMatching +OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:SLX4 semapv:UnspecifiedMatching +OMIM:613278 SLX4 skos:exactMatch ncbigene:84464 semapv:UnspecifiedMatching +OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:20509 semapv:UnspecifiedMatching +OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:ZC3H14 semapv:UnspecifiedMatching +OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch ncbigene:79882 semapv:UnspecifiedMatching +OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch MONDO:0013208 semapv:UnspecifiedMatching +OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch Orphanet:309854 semapv:UnspecifiedMatching +OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching +OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:30390 semapv:UnspecifiedMatching +OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:SNX20 semapv:UnspecifiedMatching +OMIM:613281 SNX20 skos:exactMatch ncbigene:124460 semapv:UnspecifiedMatching +OMIM:613282 fatty liver disease, susceptibility to, 1 skos:exactMatch MONDO:0021105 semapv:UnspecifiedMatching +OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:31673 semapv:UnspecifiedMatching +OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:GRXCR1 semapv:UnspecifiedMatching +OMIM:613283 GRXCR1 skos:exactMatch ncbigene:389207 semapv:UnspecifiedMatching +OMIM:613285 deafness, autosomal recessive 25 skos:exactMatch MONDO:0013210 semapv:UnspecifiedMatching +OMIM:613286 cardiomyopathy, dilated, 1ff skos:exactMatch MONDO:0013211 semapv:UnspecifiedMatching +OMIM:613287 charcot-marie-tooth disease, axonal, iia 2n skos:exactMatch MONDO:0013212 semapv:UnspecifiedMatching +OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:32671 semapv:UnspecifiedMatching +OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:TRIM72 semapv:UnspecifiedMatching +OMIM:613288 TRIM72 skos:exactMatch ncbigene:493829 semapv:UnspecifiedMatching +OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:32925 semapv:UnspecifiedMatching +OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:ATXN8 semapv:UnspecifiedMatching +OMIM:613289 ATXN8 skos:exactMatch ncbigene:724066 semapv:UnspecifiedMatching +OMIM:613290 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch MONDO:0013213 semapv:UnspecifiedMatching +OMIM:613291 bile acid malabsorption, primary, 1 skos:exactMatch MONDO:0013214 semapv:UnspecifiedMatching +OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:28404 semapv:UnspecifiedMatching +OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:DENND1B semapv:UnspecifiedMatching +OMIM:613292 DENND1B skos:exactMatch ncbigene:163486 semapv:UnspecifiedMatching +OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:29242 semapv:UnspecifiedMatching +OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:SH3PXD2B semapv:UnspecifiedMatching +OMIM:613293 SH3PXD2B skos:exactMatch ncbigene:285590 semapv:UnspecifiedMatching +OMIM:613294 SAE1 skos:exactMatch hgnc.symbol:30660 semapv:UnspecifiedMatching +OMIM:613294 SAE1 skos:exactMatch hgnc.symbol:SAE1 semapv:UnspecifiedMatching +OMIM:613294 SAE1 skos:exactMatch ncbigene:10055 semapv:UnspecifiedMatching +OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:30661 semapv:UnspecifiedMatching +OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:UBA2 semapv:UnspecifiedMatching +OMIM:613295 UBA2 skos:exactMatch ncbigene:10054 semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch UMLS:C1422129 semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:13646 semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:LAPTM4B semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch ncbigene:55353 semapv:UnspecifiedMatching +OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:30550 semapv:UnspecifiedMatching +OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:MARCHF6 semapv:UnspecifiedMatching +OMIM:613297 MARCHF6 skos:exactMatch ncbigene:10299 semapv:UnspecifiedMatching +OMIM:613298 TICRR skos:exactMatch hgnc.symbol:28704 semapv:UnspecifiedMatching +OMIM:613298 TICRR skos:exactMatch hgnc.symbol:TICRR semapv:UnspecifiedMatching +OMIM:613298 TICRR skos:exactMatch ncbigene:90381 semapv:UnspecifiedMatching +OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:19367 semapv:UnspecifiedMatching +OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:FAM13A semapv:UnspecifiedMatching +OMIM:613299 FAM13A skos:exactMatch ncbigene:10144 semapv:UnspecifiedMatching +OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:19370 semapv:UnspecifiedMatching +OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:FAM13A-AS1 semapv:UnspecifiedMatching +OMIM:613300 FAM13AOS skos:exactMatch ncbigene:285512 semapv:UnspecifiedMatching +OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:22788 semapv:UnspecifiedMatching +OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:FEZF1 semapv:UnspecifiedMatching +OMIM:613301 FEZF1 skos:exactMatch ncbigene:389549 semapv:UnspecifiedMatching +OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:21900 semapv:UnspecifiedMatching +OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:ALKBH4 semapv:UnspecifiedMatching +OMIM:613302 ALKBH4 skos:exactMatch ncbigene:54784 semapv:UnspecifiedMatching +OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:25996 semapv:UnspecifiedMatching +OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:ALKBH5 semapv:UnspecifiedMatching +OMIM:613303 ALKBH5 skos:exactMatch ncbigene:54890 semapv:UnspecifiedMatching +OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:28243 semapv:UnspecifiedMatching +OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:ALKBH6 semapv:UnspecifiedMatching +OMIM:613304 ALKBH6 skos:exactMatch ncbigene:84964 semapv:UnspecifiedMatching +OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:21306 semapv:UnspecifiedMatching +OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:ALKBH7 semapv:UnspecifiedMatching +OMIM:613305 ALKBH7 skos:exactMatch ncbigene:84266 semapv:UnspecifiedMatching +OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:25189 semapv:UnspecifiedMatching +OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:ALKBH8 semapv:UnspecifiedMatching +OMIM:613306 ALKBH8 skos:exactMatch ncbigene:91801 semapv:UnspecifiedMatching +OMIM:613307 deafness, autosomal recessive 79 skos:exactMatch MONDO:0013215 semapv:UnspecifiedMatching +OMIM:613308 diamond-blackfan anemia 9 skos:exactMatch MONDO:0013216 semapv:UnspecifiedMatching +OMIM:613309 diamond-blackfan anemia 10 skos:exactMatch MONDO:0013217 semapv:UnspecifiedMatching +OMIM:613310 exudative vitreoretinopathy 5 skos:exactMatch MONDO:0013218 semapv:UnspecifiedMatching +OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:21365 semapv:UnspecifiedMatching +OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:LYRM4 semapv:UnspecifiedMatching +OMIM:613311 LYRM4 skos:exactMatch ncbigene:57128 semapv:UnspecifiedMatching +OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch MONDO:0013219 semapv:UnspecifiedMatching +OMIM:613313 hemochromatosis, iia 2b skos:exactMatch MONDO:0013220 semapv:UnspecifiedMatching +OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:10348 semapv:UnspecifiedMatching +OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:RPL37A semapv:UnspecifiedMatching +OMIM:613314 RPL37A skos:exactMatch ncbigene:6168 semapv:UnspecifiedMatching +OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:10354 semapv:UnspecifiedMatching +OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:RPL41 semapv:UnspecifiedMatching +OMIM:613315 RPL41 skos:exactMatch ncbigene:6171 semapv:UnspecifiedMatching +OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:29323 semapv:UnspecifiedMatching +OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:WDFY4 semapv:UnspecifiedMatching +OMIM:613316 WDFY4 skos:exactMatch ncbigene:57705 semapv:UnspecifiedMatching +OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:20258 semapv:UnspecifiedMatching +OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:DCAF11 semapv:UnspecifiedMatching +OMIM:613317 DCAF11 skos:exactMatch ncbigene:80344 semapv:UnspecifiedMatching +OMIM:613318 miyoshi muscular dystrophy 2 skos:exactMatch MONDO:0013221 semapv:UnspecifiedMatching +OMIM:613319 miyoshi muscular dystrophy 3 skos:exactMatch MONDO:0013222 semapv:UnspecifiedMatching +OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki iia skos:exactMatch MONDO:0013223 semapv:UnspecifiedMatching +OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:27482 semapv:UnspecifiedMatching +OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:GXYLT1 semapv:UnspecifiedMatching +OMIM:613321 GXYLT1 skos:exactMatch ncbigene:283464 semapv:UnspecifiedMatching +OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:33383 semapv:UnspecifiedMatching +OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:GXYLT2 semapv:UnspecifiedMatching +OMIM:613322 GXYLT2 skos:exactMatch ncbigene:727936 semapv:UnspecifiedMatching +OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:28572 semapv:UnspecifiedMatching +OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:FRMPD2 semapv:UnspecifiedMatching +OMIM:613323 FRMPD2 skos:exactMatch ncbigene:143162 semapv:UnspecifiedMatching +OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:23222 semapv:UnspecifiedMatching +OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:SPATA13 semapv:UnspecifiedMatching +OMIM:613324 SPATA13 skos:exactMatch ncbigene:221178 semapv:UnspecifiedMatching +OMIM:613325 rhabdoid tumor predisposition syndrome 2 skos:exactMatch MONDO:0013224 semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch UMLS:C1414144 semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch hgnc.symbol:3013 semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch hgnc.symbol:DPYS semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch ncbigene:1807 semapv:UnspecifiedMatching +OMIM:613327 lipodystrophy, congenital generalized, iia 4 skos:exactMatch MONDO:0013225 semapv:UnspecifiedMatching +OMIM:613328 roifman-chitayat syndrome skos:exactMatch MONDO:0013226 semapv:UnspecifiedMatching +OMIM:613329 plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 semapv:UnspecifiedMatching +OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch MONDO:0013228 semapv:UnspecifiedMatching +OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:26077 semapv:UnspecifiedMatching +OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:MARCHF1 semapv:UnspecifiedMatching +OMIM:613331 MARCHF1 skos:exactMatch ncbigene:55016 semapv:UnspecifiedMatching +OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:28038 semapv:UnspecifiedMatching +OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:MARCHF2 semapv:UnspecifiedMatching +OMIM:613332 MARCHF2 skos:exactMatch ncbigene:51257 semapv:UnspecifiedMatching +OMIM:613333 MARCHF3 skos:exactMatch hgnc.symbol:28728 semapv:UnspecifiedMatching +OMIM:613333 MARCHF3 skos:exactMatch hgnc.symbol:MARCHF3 semapv:UnspecifiedMatching +OMIM:613333 MARCHF3 skos:exactMatch ncbigene:115123 semapv:UnspecifiedMatching +OMIM:613334 MARCHF7 skos:exactMatch hgnc.symbol:17393 semapv:UnspecifiedMatching +OMIM:613334 MARCHF7 skos:exactMatch hgnc.symbol:MARCHF7 semapv:UnspecifiedMatching +OMIM:613334 MARCHF7 skos:exactMatch ncbigene:64844 semapv:UnspecifiedMatching +OMIM:613335 MARCHF8 skos:exactMatch hgnc.symbol:23356 semapv:UnspecifiedMatching +OMIM:613335 MARCHF8 skos:exactMatch hgnc.symbol:MARCHF8 semapv:UnspecifiedMatching +OMIM:613335 MARCHF8 skos:exactMatch ncbigene:220972 semapv:UnspecifiedMatching +OMIM:613336 MARCHF9 skos:exactMatch hgnc.symbol:25139 semapv:UnspecifiedMatching +OMIM:613336 MARCHF9 skos:exactMatch hgnc.symbol:MARCHF9 semapv:UnspecifiedMatching +OMIM:613336 MARCHF9 skos:exactMatch ncbigene:92979 semapv:UnspecifiedMatching +OMIM:613337 MARCHF10 skos:exactMatch hgnc.symbol:26655 semapv:UnspecifiedMatching +OMIM:613337 MARCHF10 skos:exactMatch hgnc.symbol:MARCHF10 semapv:UnspecifiedMatching +OMIM:613337 MARCHF10 skos:exactMatch ncbigene:162333 semapv:UnspecifiedMatching +OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:33609 semapv:UnspecifiedMatching +OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:MARCHF11 semapv:UnspecifiedMatching +OMIM:613338 MARCHF11 skos:exactMatch ncbigene:441061 semapv:UnspecifiedMatching +OMIM:613339 epilepsy, hot water, 1 skos:exactMatch MONDO:0024508 semapv:UnspecifiedMatching +OMIM:613340 epilepsy, hot water, 2 skos:exactMatch MONDO:0013230 semapv:UnspecifiedMatching +OMIM:613341 leber congenital amaurosis 14 skos:exactMatch MONDO:0013231 semapv:UnspecifiedMatching +OMIM:613342 mseleni joint disease skos:exactMatch MONDO:0013232 semapv:UnspecifiedMatching +OMIM:613343 handigodu joint disease skos:exactMatch MONDO:0013233 semapv:UnspecifiedMatching +OMIM:613344 KIAA1549 skos:exactMatch hgnc.symbol:22219 semapv:UnspecifiedMatching +OMIM:613344 KIAA1549 skos:exactMatch hgnc.symbol:KIAA1549 semapv:UnspecifiedMatching +OMIM:613344 KIAA1549 skos:exactMatch ncbigene:57670 semapv:UnspecifiedMatching +OMIM:613345 hypokalemic periodic paralysis, iia 2 skos:exactMatch MONDO:0013234 semapv:UnspecifiedMatching +OMIM:613346 SHISA9 skos:exactMatch hgnc.symbol:37231 semapv:UnspecifiedMatching +OMIM:613346 SHISA9 skos:exactMatch hgnc.symbol:SHISA9 semapv:UnspecifiedMatching +OMIM:613346 SHISA9 skos:exactMatch ncbigene:729993 semapv:UnspecifiedMatching +OMIM:613347 pancreatic cancer, susceptibility to, 2 skos:exactMatch MONDO:0013235 semapv:UnspecifiedMatching +OMIM:613348 pancreatic cancer, susceptibility to, 3 skos:exactMatch MONDO:0013236 semapv:UnspecifiedMatching +OMIM:613349 OAT skos:exactMatch hgnc.symbol:8091 semapv:UnspecifiedMatching +OMIM:613349 OAT skos:exactMatch hgnc.symbol:OAT semapv:UnspecifiedMatching +OMIM:613349 OAT skos:exactMatch ncbigene:4942 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch UMLS:C0015708 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch UMLS:C0796274 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch UMLS:C1424064 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch UMLS:C4017306 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch hgnc.symbol:16187 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch hgnc.symbol:SLC52A3 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch ncbigene:113278 semapv:UnspecifiedMatching +OMIM:613351 ARHGAP18 skos:exactMatch hgnc.symbol:21035 semapv:UnspecifiedMatching +OMIM:613351 ARHGAP18 skos:exactMatch hgnc.symbol:ARHGAP18 semapv:UnspecifiedMatching +OMIM:613351 ARHGAP18 skos:exactMatch ncbigene:93663 semapv:UnspecifiedMatching +OMIM:613352 RSRC1 skos:exactMatch hgnc.symbol:24152 semapv:UnspecifiedMatching +OMIM:613352 RSRC1 skos:exactMatch hgnc.symbol:RSRC1 semapv:UnspecifiedMatching +OMIM:613352 RSRC1 skos:exactMatch ncbigene:51319 semapv:UnspecifiedMatching +OMIM:613353 mononeuropathy of the median nerve, mild skos:exactMatch MONDO:0013237 semapv:UnspecifiedMatching +OMIM:613353 mononeuropathy of the median nerve, mild skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching +OMIM:613354 TPRN skos:exactMatch hgnc.symbol:26894 semapv:UnspecifiedMatching +OMIM:613354 TPRN skos:exactMatch hgnc.symbol:TPRN semapv:UnspecifiedMatching +OMIM:613354 TPRN skos:exactMatch ncbigene:286262 semapv:UnspecifiedMatching +OMIM:613355 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch MONDO:0013238 semapv:UnspecifiedMatching +OMIM:613356 TRIL skos:exactMatch hgnc.symbol:22200 semapv:UnspecifiedMatching +OMIM:613356 TRIL skos:exactMatch hgnc.symbol:TRIL semapv:UnspecifiedMatching +OMIM:613356 TRIL skos:exactMatch ncbigene:9865 semapv:UnspecifiedMatching +OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:25922 semapv:UnspecifiedMatching +OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:FIBCD1 semapv:UnspecifiedMatching +OMIM:613357 FIBCD1 skos:exactMatch ncbigene:84929 semapv:UnspecifiedMatching +OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:28114 semapv:UnspecifiedMatching +OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:ALDH16A1 semapv:UnspecifiedMatching +OMIM:613358 ALDH16A1 skos:exactMatch ncbigene:126133 semapv:UnspecifiedMatching +OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:28751 semapv:UnspecifiedMatching +OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:LYPD6 semapv:UnspecifiedMatching +OMIM:613359 LYPD6 skos:exactMatch ncbigene:130574 semapv:UnspecifiedMatching +OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:28769 semapv:UnspecifiedMatching +OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:DRAM2 semapv:UnspecifiedMatching +OMIM:613360 DRAM2 skos:exactMatch ncbigene:128338 semapv:UnspecifiedMatching +OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:21573 semapv:UnspecifiedMatching +OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:SLC18B1 semapv:UnspecifiedMatching +OMIM:613361 SLC18B1 skos:exactMatch ncbigene:116843 semapv:UnspecifiedMatching +OMIM:613362 CINP skos:exactMatch hgnc.symbol:23789 semapv:UnspecifiedMatching +OMIM:613362 CINP skos:exactMatch hgnc.symbol:CINP semapv:UnspecifiedMatching +OMIM:613362 CINP skos:exactMatch ncbigene:51550 semapv:UnspecifiedMatching +OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:28296 semapv:UnspecifiedMatching +OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:DYNC2I2 semapv:UnspecifiedMatching +OMIM:613363 WDR34 skos:exactMatch ncbigene:89891 semapv:UnspecifiedMatching +OMIM:613364 spastic paraplegia 41, autosomal dominant skos:exactMatch MONDO:0013239 semapv:UnspecifiedMatching +OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:23613 semapv:UnspecifiedMatching +OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:SLCO6A1 semapv:UnspecifiedMatching +OMIM:613365 SLCO6A1 skos:exactMatch ncbigene:133482 semapv:UnspecifiedMatching +OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:30603 semapv:UnspecifiedMatching +OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:SLC10A6 semapv:UnspecifiedMatching +OMIM:613366 SLC10A6 skos:exactMatch ncbigene:345274 semapv:UnspecifiedMatching +OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:25397 semapv:UnspecifiedMatching +OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:LIN54 semapv:UnspecifiedMatching +OMIM:613367 LIN54 skos:exactMatch ncbigene:132660 semapv:UnspecifiedMatching +OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:29268 semapv:UnspecifiedMatching +OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:CARNS1 semapv:UnspecifiedMatching +OMIM:613368 CARNS1 skos:exactMatch ncbigene:57571 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch UMLS:C1425699 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:18676 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:DDX42 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch ncbigene:11325 semapv:UnspecifiedMatching +OMIM:613370 maturity-onset diabetes of the young, iia 10 skos:exactMatch MONDO:0013240 semapv:UnspecifiedMatching +OMIM:613371 spinocerebellar ataxia 30 skos:exactMatch MONDO:0013241 semapv:UnspecifiedMatching +OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:23039 semapv:UnspecifiedMatching +OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:UFL1 semapv:UnspecifiedMatching +OMIM:613372 UFL1 skos:exactMatch ncbigene:23376 semapv:UnspecifiedMatching +OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:25489 semapv:UnspecifiedMatching +OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:YEATS2 semapv:UnspecifiedMatching +OMIM:613373 YEATS2 skos:exactMatch ncbigene:55689 semapv:UnspecifiedMatching +OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:25156 semapv:UnspecifiedMatching +OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:SGF29 semapv:UnspecifiedMatching +OMIM:613374 CCDC101 skos:exactMatch ncbigene:112869 semapv:UnspecifiedMatching +OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch MONDO:0013242 semapv:UnspecifiedMatching +OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching +OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching +OMIM:613376 neuronopathy, distal hereditary motor, autosomal dominant 4 skos:exactMatch MONDO:0013243 semapv:UnspecifiedMatching +OMIM:613377 SH3RF2 skos:exactMatch UMLS:C1428570 semapv:UnspecifiedMatching +OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:26299 semapv:UnspecifiedMatching +OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:SH3RF2 semapv:UnspecifiedMatching +OMIM:613377 SH3RF2 skos:exactMatch ncbigene:153769 semapv:UnspecifiedMatching +OMIM:613378 A2LD1 skos:exactMatch hgnc.symbol:25100 semapv:UnspecifiedMatching +OMIM:613378 A2LD1 skos:exactMatch hgnc.symbol:GGACT semapv:UnspecifiedMatching +OMIM:613378 A2LD1 skos:exactMatch ncbigene:87769 semapv:UnspecifiedMatching +OMIM:613379 CMBL skos:exactMatch hgnc.symbol:25090 semapv:UnspecifiedMatching +OMIM:613379 CMBL skos:exactMatch hgnc.symbol:CMBL semapv:UnspecifiedMatching +OMIM:613379 CMBL skos:exactMatch ncbigene:134147 semapv:UnspecifiedMatching +OMIM:613380 HMX3 skos:exactMatch hgnc.symbol:5019 semapv:UnspecifiedMatching +OMIM:613380 HMX3 skos:exactMatch hgnc.symbol:HMX3 semapv:UnspecifiedMatching +OMIM:613380 HMX3 skos:exactMatch ncbigene:340784 semapv:UnspecifiedMatching +OMIM:613381 CBS skos:exactMatch hgnc.symbol:1550 semapv:UnspecifiedMatching +OMIM:613381 CBS skos:exactMatch hgnc.symbol:CBS semapv:UnspecifiedMatching +OMIM:613381 CBS skos:exactMatch ncbigene:875 semapv:UnspecifiedMatching +OMIM:613382 brachydactyly, iia e2 skos:exactMatch MONDO:0013244 semapv:UnspecifiedMatching +OMIM:613383 ANKRD54 skos:exactMatch hgnc.symbol:25185 semapv:UnspecifiedMatching +OMIM:613383 ANKRD54 skos:exactMatch hgnc.symbol:ANKRD54 semapv:UnspecifiedMatching +OMIM:613383 ANKRD54 skos:exactMatch ncbigene:129138 semapv:UnspecifiedMatching +OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:20569 semapv:UnspecifiedMatching +OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:CCNL1 semapv:UnspecifiedMatching +OMIM:613384 CCNL1 skos:exactMatch ncbigene:57018 semapv:UnspecifiedMatching +OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch MONDO:0013245 semapv:UnspecifiedMatching +OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch Orphanet:228426 semapv:UnspecifiedMatching +OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching +OMIM:613386 POMP skos:exactMatch hgnc.symbol:20330 semapv:UnspecifiedMatching +OMIM:613386 POMP skos:exactMatch hgnc.symbol:POMP semapv:UnspecifiedMatching +OMIM:613386 POMP skos:exactMatch ncbigene:51371 semapv:UnspecifiedMatching +OMIM:613387 fatty liver disease, susceptibility to, 2 skos:exactMatch MONDO:0013246 semapv:UnspecifiedMatching +OMIM:613388 fanconi renotubular syndrome 2 skos:exactMatch MONDO:0013247 semapv:UnspecifiedMatching +OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:13819 semapv:UnspecifiedMatching +OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:SLCO1C1 semapv:UnspecifiedMatching +OMIM:613389 SLCO1C1 skos:exactMatch ncbigene:53919 semapv:UnspecifiedMatching +OMIM:613390 fanconi anemia, complementation group o skos:exactMatch MONDO:0013248 semapv:UnspecifiedMatching +OMIM:613391 deafness, autosomal recessive 84a skos:exactMatch MONDO:0013249 semapv:UnspecifiedMatching +OMIM:613392 deafness, autosomal recessive 85 skos:exactMatch MONDO:0013250 semapv:UnspecifiedMatching +OMIM:613393 birbeck granule deficiency skos:exactMatch MONDO:0013251 semapv:UnspecifiedMatching +OMIM:613394 MIR138-1 skos:exactMatch UMLS:C1537791 semapv:UnspecifiedMatching +OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:31524 semapv:UnspecifiedMatching +OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:MIR138-1 semapv:UnspecifiedMatching +OMIM:613394 MIR138-1 skos:exactMatch ncbigene:406929 semapv:UnspecifiedMatching +OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:31525 semapv:UnspecifiedMatching +OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:MIR138-2 semapv:UnspecifiedMatching +OMIM:613395 MIR138-2 skos:exactMatch ncbigene:406930 semapv:UnspecifiedMatching +OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:16707 semapv:UnspecifiedMatching +OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:DSCR8 semapv:UnspecifiedMatching +OMIM:613396 DSCR8 skos:exactMatch ncbigene:84677 semapv:UnspecifiedMatching +OMIM:613397 AVIL skos:exactMatch hgnc.symbol:14188 semapv:UnspecifiedMatching +OMIM:613397 AVIL skos:exactMatch hgnc.symbol:AVIL semapv:UnspecifiedMatching +OMIM:613397 AVIL skos:exactMatch ncbigene:10677 semapv:UnspecifiedMatching +OMIM:613398 warsaw breakage syndrome skos:exactMatch MONDO:0013252 semapv:UnspecifiedMatching +OMIM:613398 warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching +OMIM:613398 warsaw breakage syndrome skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching +OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch MONDO:0013253 semapv:UnspecifiedMatching +OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:30576 semapv:UnspecifiedMatching +OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:ADI1 semapv:UnspecifiedMatching +OMIM:613400 ADI1 skos:exactMatch ncbigene:55256 semapv:UnspecifiedMatching +OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:20347 semapv:UnspecifiedMatching +OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:VIPAS39 semapv:UnspecifiedMatching +OMIM:613401 VIPAS39 skos:exactMatch ncbigene:63894 semapv:UnspecifiedMatching +OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch MONDO:0013254 semapv:UnspecifiedMatching +OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch UMLS:C1823386 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:26038 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:TMEM127 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch ncbigene:55654 semapv:UnspecifiedMatching +OMIM:613404 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch MONDO:0013255 semapv:UnspecifiedMatching +OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:38221 semapv:UnspecifiedMatching +OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:MIR2861 semapv:UnspecifiedMatching +OMIM:613405 MIR2861 skos:exactMatch ncbigene:100422910 semapv:UnspecifiedMatching +OMIM:613406 witteveen-kolk syndrome skos:exactMatch MONDO:0013256 semapv:UnspecifiedMatching +OMIM:613407 leprosy, susceptibility to, 6 skos:exactMatch MONDO:0013257 semapv:UnspecifiedMatching +OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:26478 semapv:UnspecifiedMatching +OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:CCDC122 semapv:UnspecifiedMatching +OMIM:613408 CCDC122 skos:exactMatch ncbigene:160857 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch UMLS:C1824389 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:26789 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:LACC1 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch ncbigene:144811 semapv:UnspecifiedMatching +OMIM:613410 autism, susceptibility to, 16 skos:exactMatch MONDO:0013258 semapv:UnspecifiedMatching +OMIM:613411 oguchi disease 2 skos:exactMatch MONDO:0013259 semapv:UnspecifiedMatching +OMIM:613412 esophagitis, eosinophilic, 2 skos:exactMatch MONDO:0013260 semapv:UnspecifiedMatching +OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:22407 semapv:UnspecifiedMatching +OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:TMEM106B semapv:UnspecifiedMatching +OMIM:613413 TMEM106B skos:exactMatch ncbigene:54664 semapv:UnspecifiedMatching +OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:33808 semapv:UnspecifiedMatching +OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:IL17REL semapv:UnspecifiedMatching +OMIM:613414 IL17REL skos:exactMatch ncbigene:400935 semapv:UnspecifiedMatching +OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:31736 semapv:UnspecifiedMatching +OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:CKMT1A semapv:UnspecifiedMatching +OMIM:613415 CKMT1A skos:exactMatch ncbigene:548596 semapv:UnspecifiedMatching +OMIM:613416 SCIN skos:exactMatch hgnc.symbol:21695 semapv:UnspecifiedMatching +OMIM:613416 SCIN skos:exactMatch hgnc.symbol:SCIN semapv:UnspecifiedMatching +OMIM:613416 SCIN skos:exactMatch ncbigene:85477 semapv:UnspecifiedMatching +OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:20596 semapv:UnspecifiedMatching +OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:SUPT20H semapv:UnspecifiedMatching +OMIM:613417 FAM48A skos:exactMatch ncbigene:55578 semapv:UnspecifiedMatching +OMIM:613418 bone mineral density quantitative trait locus 15 skos:exactMatch MONDO:0044279 semapv:UnspecifiedMatching +OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:23709 semapv:UnspecifiedMatching +OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:ZSCAN4 semapv:UnspecifiedMatching +OMIM:613419 ZSCAN4 skos:exactMatch ncbigene:201516 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch UMLS:C1425395 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch UMLS:C1867020 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:18249 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:KCTD1 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch ncbigene:284252 semapv:UnspecifiedMatching +OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:23236 semapv:UnspecifiedMatching +OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:KCTD10 semapv:UnspecifiedMatching +OMIM:613421 KCTD10 skos:exactMatch ncbigene:83892 semapv:UnspecifiedMatching +OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:21294 semapv:UnspecifiedMatching +OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:KCTD2 semapv:UnspecifiedMatching +OMIM:613422 KCTD2 skos:exactMatch ncbigene:23510 semapv:UnspecifiedMatching +OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:29244 semapv:UnspecifiedMatching +OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:KCTD16 semapv:UnspecifiedMatching +OMIM:613423 KCTD16 skos:exactMatch ncbigene:57528 semapv:UnspecifiedMatching +OMIM:613424 cardiomyopathy, dilated, 1r skos:exactMatch MONDO:0013261 semapv:UnspecifiedMatching +OMIM:613425 PCARE skos:exactMatch hgnc.symbol:34383 semapv:UnspecifiedMatching +OMIM:613425 PCARE skos:exactMatch hgnc.symbol:PCARE semapv:UnspecifiedMatching +OMIM:613425 PCARE skos:exactMatch ncbigene:388939 semapv:UnspecifiedMatching +OMIM:613426 cardiomyopathy, dilated, 1s skos:exactMatch MONDO:0013262 semapv:UnspecifiedMatching +OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:26976 semapv:UnspecifiedMatching +OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:ANAPC16 semapv:UnspecifiedMatching +OMIM:613427 ANAPC16 skos:exactMatch ncbigene:119504 semapv:UnspecifiedMatching +OMIM:613428 retinitis pigmentosa 54 skos:exactMatch MONDO:0013263 semapv:UnspecifiedMatching +OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:25530 semapv:UnspecifiedMatching +OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:HAUS2 semapv:UnspecifiedMatching +OMIM:613429 HAUS2 skos:exactMatch ncbigene:55142 semapv:UnspecifiedMatching +OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:28719 semapv:UnspecifiedMatching +OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:HAUS3 semapv:UnspecifiedMatching +OMIM:613430 HAUS3 skos:exactMatch ncbigene:79441 semapv:UnspecifiedMatching +OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:20163 semapv:UnspecifiedMatching +OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:HAUS4 semapv:UnspecifiedMatching +OMIM:613431 HAUS4 skos:exactMatch ncbigene:54930 semapv:UnspecifiedMatching +OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:29130 semapv:UnspecifiedMatching +OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:HAUS5 semapv:UnspecifiedMatching +OMIM:613432 HAUS5 skos:exactMatch ncbigene:23354 semapv:UnspecifiedMatching +OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:25948 semapv:UnspecifiedMatching +OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:HAUS6 semapv:UnspecifiedMatching +OMIM:613433 HAUS6 skos:exactMatch ncbigene:54801 semapv:UnspecifiedMatching +OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:30532 semapv:UnspecifiedMatching +OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:HAUS8 semapv:UnspecifiedMatching +OMIM:613434 HAUS8 skos:exactMatch ncbigene:93323 semapv:UnspecifiedMatching +OMIM:613435 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia skos:exactMatch MONDO:0013264 semapv:UnspecifiedMatching +OMIM:613436 autism, susceptibility to, 17 skos:exactMatch MONDO:0013265 semapv:UnspecifiedMatching +OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:29002 semapv:UnspecifiedMatching +OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:FCHO1 semapv:UnspecifiedMatching +OMIM:613437 FCHO1 skos:exactMatch ncbigene:23149 semapv:UnspecifiedMatching +OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:25180 semapv:UnspecifiedMatching +OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:FCHO2 semapv:UnspecifiedMatching +OMIM:613438 FCHO2 skos:exactMatch ncbigene:115548 semapv:UnspecifiedMatching +OMIM:613439 CNST skos:exactMatch hgnc.symbol:26486 semapv:UnspecifiedMatching +OMIM:613439 CNST skos:exactMatch hgnc.symbol:CNST semapv:UnspecifiedMatching +OMIM:613439 CNST skos:exactMatch ncbigene:163882 semapv:UnspecifiedMatching +OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:11653 semapv:UnspecifiedMatching +OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:TCN2 semapv:UnspecifiedMatching +OMIM:613441 TCN2 skos:exactMatch ncbigene:6948 semapv:UnspecifiedMatching +OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:14171 semapv:UnspecifiedMatching +OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:PTX4 semapv:UnspecifiedMatching +OMIM:613442 PTX4 skos:exactMatch ncbigene:390667 semapv:UnspecifiedMatching +OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch MONDO:0013266 semapv:UnspecifiedMatching +OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch MONDO:0013267 semapv:UnspecifiedMatching +OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:26690 semapv:UnspecifiedMatching +OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:CEP120 semapv:UnspecifiedMatching +OMIM:613446 CEP120 skos:exactMatch ncbigene:153241 semapv:UnspecifiedMatching +OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:25083 semapv:UnspecifiedMatching +OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:SPICE1 semapv:UnspecifiedMatching +OMIM:613447 SPICE1 skos:exactMatch ncbigene:152185 semapv:UnspecifiedMatching +OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:33830 semapv:UnspecifiedMatching +OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:MZT1 semapv:UnspecifiedMatching +OMIM:613448 MZT1 skos:exactMatch ncbigene:440145 semapv:UnspecifiedMatching +OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:33187 semapv:UnspecifiedMatching +OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:MZT2A semapv:UnspecifiedMatching +OMIM:613449 FAM128A skos:exactMatch ncbigene:653784 semapv:UnspecifiedMatching +OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:25886 semapv:UnspecifiedMatching +OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:MZT2B semapv:UnspecifiedMatching +OMIM:613450 MZT2B skos:exactMatch ncbigene:80097 semapv:UnspecifiedMatching +OMIM:613451 frontonasal dysplasia 2 skos:exactMatch MONDO:0013268 semapv:UnspecifiedMatching +OMIM:613451 frontonasal dysplasia 2 skos:exactMatch Orphanet:228390 semapv:UnspecifiedMatching +OMIM:613451 frontonasal dysplasia 2 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching +OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:25243 semapv:UnspecifiedMatching +OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:CATSPERG semapv:UnspecifiedMatching +OMIM:613452 CATSPERG skos:exactMatch ncbigene:57828 semapv:UnspecifiedMatching +OMIM:613453 deafness, autosomal recessive 91 skos:exactMatch MONDO:0013269 semapv:UnspecifiedMatching +OMIM:613454 rett syndrome, congenital variant skos:exactMatch MONDO:0013270 semapv:UnspecifiedMatching +OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:24008 semapv:UnspecifiedMatching +OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:MIA3 semapv:UnspecifiedMatching +OMIM:613455 MIA3 skos:exactMatch ncbigene:375056 semapv:UnspecifiedMatching +OMIM:613456 frontonasal dysplasia 3 skos:exactMatch MONDO:0013271 semapv:UnspecifiedMatching +OMIM:613456 frontonasal dysplasia 3 skos:exactMatch Orphanet:306542 semapv:UnspecifiedMatching +OMIM:613456 frontonasal dysplasia 3 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching +OMIM:613457 chromosome 14q11-q22 deletion syndrome skos:exactMatch MONDO:0013272 semapv:UnspecifiedMatching +OMIM:613458 chromosome 16p13.3 duplication syndrome skos:exactMatch MONDO:0013273 semapv:UnspecifiedMatching +OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:29477 semapv:UnspecifiedMatching +OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:LEPROT semapv:UnspecifiedMatching +OMIM:613461 LEPROT skos:exactMatch ncbigene:54741 semapv:UnspecifiedMatching +OMIM:613464 retinitis pigmentosa 51 skos:exactMatch MONDO:0013274 semapv:UnspecifiedMatching +OMIM:613465 NME7 skos:exactMatch hgnc.symbol:20461 semapv:UnspecifiedMatching +OMIM:613465 NME7 skos:exactMatch hgnc.symbol:NME7 semapv:UnspecifiedMatching +OMIM:613465 NME7 skos:exactMatch ncbigene:29922 semapv:UnspecifiedMatching +OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:8867 semapv:UnspecifiedMatching +OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:PFDN2 semapv:UnspecifiedMatching +OMIM:613466 PFDN2 skos:exactMatch ncbigene:5202 semapv:UnspecifiedMatching +OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:25817 semapv:UnspecifiedMatching +OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:TUT7 semapv:UnspecifiedMatching +OMIM:613467 ZCCHC6 skos:exactMatch ncbigene:79670 semapv:UnspecifiedMatching +OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:735 semapv:UnspecifiedMatching +OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:ASAH1 semapv:UnspecifiedMatching +OMIM:613468 ASAH1 skos:exactMatch ncbigene:427 semapv:UnspecifiedMatching +OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:18374 semapv:UnspecifiedMatching +OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:HPSE2 semapv:UnspecifiedMatching +OMIM:613469 HPSE2 skos:exactMatch ncbigene:60495 semapv:UnspecifiedMatching +OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch MONDO:0013275 semapv:UnspecifiedMatching +OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching +OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching +OMIM:613471 reynolds syndrome skos:exactMatch MONDO:0013276 semapv:UnspecifiedMatching +OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:19703 semapv:UnspecifiedMatching +OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:ULK3 semapv:UnspecifiedMatching +OMIM:613472 ULK3 skos:exactMatch ncbigene:25989 semapv:UnspecifiedMatching +OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:13490 semapv:UnspecifiedMatching +OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:WDR7 semapv:UnspecifiedMatching +OMIM:613473 WDR7 skos:exactMatch ncbigene:23335 semapv:UnspecifiedMatching +OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:25206 semapv:UnspecifiedMatching +OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:ZFAND2B semapv:UnspecifiedMatching +OMIM:613474 ZFAND2B skos:exactMatch ncbigene:130617 semapv:UnspecifiedMatching +OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:21374 semapv:UnspecifiedMatching +OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:RRP36 semapv:UnspecifiedMatching +OMIM:613475 RRP36 skos:exactMatch ncbigene:88745 semapv:UnspecifiedMatching +OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:24711 semapv:UnspecifiedMatching +OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:MFSD6 semapv:UnspecifiedMatching +OMIM:613476 MFSD6 skos:exactMatch ncbigene:54842 semapv:UnspecifiedMatching +OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch MONDO:0013277 semapv:UnspecifiedMatching +OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching +OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:30181 semapv:UnspecifiedMatching +OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:CCDC106 semapv:UnspecifiedMatching +OMIM:613478 CCDC106 skos:exactMatch ncbigene:29903 semapv:UnspecifiedMatching +OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:29511 semapv:UnspecifiedMatching +OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:CEP131 semapv:UnspecifiedMatching +OMIM:613479 CEP131 skos:exactMatch ncbigene:22994 semapv:UnspecifiedMatching +OMIM:613480 lymphatic malformation 3 skos:exactMatch MONDO:0013278 semapv:UnspecifiedMatching +OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:30723 semapv:UnspecifiedMatching +OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:CCDC62 semapv:UnspecifiedMatching +OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch ncbigene:84660 semapv:UnspecifiedMatching +OMIM:613482 CCNL2 skos:exactMatch UMLS:C1427009 semapv:UnspecifiedMatching +OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:20570 semapv:UnspecifiedMatching +OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:CCNL2 semapv:UnspecifiedMatching +OMIM:613482 CCNL2 skos:exactMatch ncbigene:81669 semapv:UnspecifiedMatching +OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:11963 semapv:UnspecifiedMatching +OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:BHLHE22 semapv:UnspecifiedMatching +OMIM:613483 BHLHE22 skos:exactMatch ncbigene:27319 semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch UMLS:C1539835 semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch hgnc.symbol:17575 semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch hgnc.symbol:SPEN semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch ncbigene:23013 semapv:UnspecifiedMatching +OMIM:613485 long qt syndrome 13 skos:exactMatch MONDO:0013279 semapv:UnspecifiedMatching +OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:32791 semapv:UnspecifiedMatching +OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:MIR33B semapv:UnspecifiedMatching +OMIM:613486 MIR33B skos:exactMatch ncbigene:693120 semapv:UnspecifiedMatching +OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:31589 semapv:UnspecifiedMatching +OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:MIR212 semapv:UnspecifiedMatching +OMIM:613487 MIR212 skos:exactMatch ncbigene:406994 semapv:UnspecifiedMatching +OMIM:613488 myxoid liposarcoma skos:exactMatch MONDO:0013280 semapv:UnspecifiedMatching +OMIM:613489 congenital disorder of glycosylation, iia iij skos:exactMatch MONDO:0013281 semapv:UnspecifiedMatching +OMIM:613490 alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 semapv:UnspecifiedMatching +OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:18356 semapv:UnspecifiedMatching +OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:ACER1 semapv:UnspecifiedMatching +OMIM:613491 ACER1 skos:exactMatch ncbigene:125981 semapv:UnspecifiedMatching +OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:23675 semapv:UnspecifiedMatching +OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:ACER2 semapv:UnspecifiedMatching +OMIM:613492 ACER2 skos:exactMatch ncbigene:340485 semapv:UnspecifiedMatching +OMIM:613493 immunodeficiency, common variable, 3 skos:exactMatch MONDO:0013283 semapv:UnspecifiedMatching +OMIM:613494 immunodeficiency, common variable, 4 skos:exactMatch MONDO:0013284 semapv:UnspecifiedMatching +OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch MONDO:0013285 semapv:UnspecifiedMatching +OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching +OMIM:613496 immunodeficiency, common variable, 6 skos:exactMatch MONDO:0013286 semapv:UnspecifiedMatching +OMIM:613497 LIPA skos:exactMatch hgnc.symbol:6617 semapv:UnspecifiedMatching +OMIM:613497 LIPA skos:exactMatch hgnc.symbol:LIPA semapv:UnspecifiedMatching +OMIM:613497 LIPA skos:exactMatch ncbigene:3988 semapv:UnspecifiedMatching +OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:18729 semapv:UnspecifiedMatching +OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:H2AC1 semapv:UnspecifiedMatching +OMIM:613499 HIST1H2AA skos:exactMatch ncbigene:221613 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch MONDO:0013287 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:229717 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:33110 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching +OMIM:613501 agammaglobulinemia 3, autosomal recessive skos:exactMatch MONDO:0013288 semapv:UnspecifiedMatching +OMIM:613502 agammaglobulinemia 4, autosomal recessive skos:exactMatch MONDO:0013289 semapv:UnspecifiedMatching +OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:4943 semapv:UnspecifiedMatching +OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:HLA-DQA2 semapv:UnspecifiedMatching +OMIM:613503 HLA-DQA2 skos:exactMatch ncbigene:3118 semapv:UnspecifiedMatching +OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:20760 semapv:UnspecifiedMatching +OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:ZFYVE21 semapv:UnspecifiedMatching +OMIM:613504 ZFYVE21 skos:exactMatch ncbigene:79038 semapv:UnspecifiedMatching +OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:31409 semapv:UnspecifiedMatching +OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:LRRC26 semapv:UnspecifiedMatching +OMIM:613505 LRRC26 skos:exactMatch ncbigene:389816 semapv:UnspecifiedMatching +OMIM:613506 agammaglobulinemia 5, autosomal dominant skos:exactMatch MONDO:0013290 semapv:UnspecifiedMatching +OMIM:613507 glycogen storage disease 15 skos:exactMatch MONDO:0013291 semapv:UnspecifiedMatching +OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch MONDO:0013292 semapv:UnspecifiedMatching +OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 semapv:UnspecifiedMatching +OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch UMLS:C3150756 semapv:UnspecifiedMatching +OMIM:613510 LAMTOR1 skos:exactMatch hgnc.symbol:26068 semapv:UnspecifiedMatching +OMIM:613510 LAMTOR1 skos:exactMatch hgnc.symbol:LAMTOR1 semapv:UnspecifiedMatching +OMIM:613510 LAMTOR1 skos:exactMatch ncbigene:55004 semapv:UnspecifiedMatching +OMIM:613511 SPINK9 skos:exactMatch hgnc.symbol:32951 semapv:UnspecifiedMatching +OMIM:613511 SPINK9 skos:exactMatch hgnc.symbol:SPINK9 semapv:UnspecifiedMatching +OMIM:613511 SPINK9 skos:exactMatch ncbigene:643394 semapv:UnspecifiedMatching +OMIM:613512 ZBED6 skos:exactMatch hgnc.symbol:33273 semapv:UnspecifiedMatching +OMIM:613512 ZBED6 skos:exactMatch hgnc.symbol:ZBED6 semapv:UnspecifiedMatching +OMIM:613512 ZBED6 skos:exactMatch ncbigene:100381270 semapv:UnspecifiedMatching +OMIM:613513 ZC3H11A skos:exactMatch hgnc.symbol:29093 semapv:UnspecifiedMatching +OMIM:613513 ZC3H11A skos:exactMatch hgnc.symbol:ZC3H11A semapv:UnspecifiedMatching +OMIM:613513 ZC3H11A skos:exactMatch ncbigene:9877 semapv:UnspecifiedMatching +OMIM:613514 ZP4 skos:exactMatch hgnc.symbol:15770 semapv:UnspecifiedMatching +OMIM:613514 ZP4 skos:exactMatch hgnc.symbol:ZP4 semapv:UnspecifiedMatching +OMIM:613514 ZP4 skos:exactMatch ncbigene:57829 semapv:UnspecifiedMatching +OMIM:613515 ATG14 skos:exactMatch UMLS:C3146639 semapv:UnspecifiedMatching +OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:19962 semapv:UnspecifiedMatching +OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:ATG14 semapv:UnspecifiedMatching +OMIM:613515 ATG14 skos:exactMatch ncbigene:22863 semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch UMLS:C1537447 semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:28991 semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:RUBCN semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch ncbigene:9711 semapv:UnspecifiedMatching +OMIM:613517 microphthalmia, isolated 6 skos:exactMatch MONDO:0013293 semapv:UnspecifiedMatching +OMIM:613518 dermatitis, atopic, 8 skos:exactMatch MONDO:0013294 semapv:UnspecifiedMatching +OMIM:613519 dermatitis, atopic, 9 skos:exactMatch MONDO:0013295 semapv:UnspecifiedMatching +OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:21740 semapv:UnspecifiedMatching +OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:FGD6 semapv:UnspecifiedMatching +OMIM:613520 FGD6 skos:exactMatch ncbigene:55785 semapv:UnspecifiedMatching +OMIM:613521 UROD skos:exactMatch hgnc.symbol:12591 semapv:UnspecifiedMatching +OMIM:613521 UROD skos:exactMatch hgnc.symbol:UROD semapv:UnspecifiedMatching +OMIM:613521 UROD skos:exactMatch ncbigene:7389 semapv:UnspecifiedMatching +OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:1012 semapv:UnspecifiedMatching +OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:OPN1SW semapv:UnspecifiedMatching +OMIM:613522 OPN1SW skos:exactMatch ncbigene:611 semapv:UnspecifiedMatching +OMIM:613523 chromosome 8p11 myeloproliferative syndrome skos:exactMatch MONDO:0013296 semapv:UnspecifiedMatching +OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:10671 semapv:UnspecifiedMatching +OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:SDCCAG8 semapv:UnspecifiedMatching +OMIM:613524 SDCCAG8 skos:exactMatch ncbigene:10806 semapv:UnspecifiedMatching +OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:17202 semapv:UnspecifiedMatching +OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:PSORS1C1 semapv:UnspecifiedMatching +OMIM:613525 seek1 gene skos:exactMatch ncbigene:170679 semapv:UnspecifiedMatching +OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:17199 semapv:UnspecifiedMatching +OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:PSORS1C2 semapv:UnspecifiedMatching +OMIM:613526 spr1 gene skos:exactMatch ncbigene:170680 semapv:UnspecifiedMatching +OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:30290 semapv:UnspecifiedMatching +OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:DNAJC27 semapv:UnspecifiedMatching +OMIM:613527 DNAJC27 skos:exactMatch ncbigene:51277 semapv:UnspecifiedMatching +OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:19265 semapv:UnspecifiedMatching +OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:SYT9 semapv:UnspecifiedMatching +OMIM:613528 SYT9 skos:exactMatch ncbigene:143425 semapv:UnspecifiedMatching +OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:29298 semapv:UnspecifiedMatching +OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:CEP152 semapv:UnspecifiedMatching +OMIM:613529 CEP152 skos:exactMatch ncbigene:22995 semapv:UnspecifiedMatching +OMIM:613530 muscular dystrophy, limb-girdle, iia 1h skos:exactMatch MONDO:0013297 semapv:UnspecifiedMatching +OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:9589 semapv:UnspecifiedMatching +OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:PTENP1 semapv:UnspecifiedMatching +OMIM:613531 PTENP1 skos:exactMatch ncbigene:11191 semapv:UnspecifiedMatching +OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:30273 semapv:UnspecifiedMatching +OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:RAB8B semapv:UnspecifiedMatching +OMIM:613532 RAB8B skos:exactMatch ncbigene:51762 semapv:UnspecifiedMatching +OMIM:613533 chromosome 17q21.31 duplication syndrome skos:exactMatch MONDO:0013298 semapv:UnspecifiedMatching +OMIM:613534 FAN1 skos:exactMatch hgnc.symbol:29170 semapv:UnspecifiedMatching +OMIM:613534 FAN1 skos:exactMatch hgnc.symbol:FAN1 semapv:UnspecifiedMatching +OMIM:613534 FAN1 skos:exactMatch ncbigene:22909 semapv:UnspecifiedMatching +OMIM:613535 KIAA0319L skos:exactMatch hgnc.symbol:30071 semapv:UnspecifiedMatching +OMIM:613535 KIAA0319L skos:exactMatch hgnc.symbol:KIAA0319L semapv:UnspecifiedMatching +OMIM:613535 KIAA0319L skos:exactMatch ncbigene:79932 semapv:UnspecifiedMatching +OMIM:613536 LEKR1 skos:exactMatch hgnc.symbol:33765 semapv:UnspecifiedMatching +OMIM:613536 LEKR1 skos:exactMatch hgnc.symbol:LEKR1 semapv:UnspecifiedMatching +OMIM:613536 LEKR1 skos:exactMatch ncbigene:389170 semapv:UnspecifiedMatching +OMIM:613537 NLRC5 skos:exactMatch hgnc.symbol:29933 semapv:UnspecifiedMatching +OMIM:613537 NLRC5 skos:exactMatch hgnc.symbol:NLRC5 semapv:UnspecifiedMatching +OMIM:613537 NLRC5 skos:exactMatch ncbigene:84166 semapv:UnspecifiedMatching +OMIM:613538 FEM1A skos:exactMatch hgnc.symbol:16934 semapv:UnspecifiedMatching +OMIM:613538 FEM1A skos:exactMatch hgnc.symbol:FEM1A semapv:UnspecifiedMatching +OMIM:613538 FEM1A skos:exactMatch ncbigene:55527 semapv:UnspecifiedMatching +OMIM:613539 FEM1B skos:exactMatch hgnc.symbol:3649 semapv:UnspecifiedMatching +OMIM:613539 FEM1B skos:exactMatch hgnc.symbol:FEM1B semapv:UnspecifiedMatching +OMIM:613539 FEM1B skos:exactMatch ncbigene:10116 semapv:UnspecifiedMatching +OMIM:613540 SPTSSA skos:exactMatch hgnc.symbol:20361 semapv:UnspecifiedMatching +OMIM:613540 SPTSSA skos:exactMatch hgnc.symbol:SPTSSA semapv:UnspecifiedMatching +OMIM:613540 SPTSSA skos:exactMatch ncbigene:171546 semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch UMLS:C2240303 semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch UMLS:C3150801 semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch UMLS:C3539506 semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch hgnc.symbol:26784 semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch hgnc.symbol:MTRFR semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch ncbigene:91574 semapv:UnspecifiedMatching +OMIM:613542 MTRF1L skos:exactMatch hgnc.symbol:21051 semapv:UnspecifiedMatching +OMIM:613542 MTRF1L skos:exactMatch hgnc.symbol:MTRF1L semapv:UnspecifiedMatching +OMIM:613542 MTRF1L skos:exactMatch ncbigene:54516 semapv:UnspecifiedMatching +OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:19046 semapv:UnspecifiedMatching +OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:SLCO5A1 semapv:UnspecifiedMatching +OMIM:613543 SLCO5A1 skos:exactMatch ncbigene:81796 semapv:UnspecifiedMatching +OMIM:613544 chromosome 6q11-q14 deletion syndrome skos:exactMatch MONDO:0013299 semapv:UnspecifiedMatching +OMIM:613545 macrostomia, isolated skos:exactMatch MONDO:0013300 semapv:UnspecifiedMatching +OMIM:613546 aromatase deficiency skos:exactMatch MONDO:0013301 semapv:UnspecifiedMatching +OMIM:613550 nephronophthisis 11 skos:exactMatch MONDO:0013302 semapv:UnspecifiedMatching +OMIM:613550 nephronophthisis 11 skos:exactMatch Orphanet:84081 semapv:UnspecifiedMatching +OMIM:613550 nephronophthisis 11 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching +OMIM:613551 autoimmune disease, susceptibility to, 6 skos:exactMatch MONDO:0013303 semapv:UnspecifiedMatching +OMIM:613552 GSAP skos:exactMatch hgnc.symbol:28042 semapv:UnspecifiedMatching +OMIM:613552 GSAP skos:exactMatch hgnc.symbol:GSAP semapv:UnspecifiedMatching +OMIM:613552 GSAP skos:exactMatch ncbigene:54103 semapv:UnspecifiedMatching +OMIM:613553 XPNPEP3 skos:exactMatch hgnc.symbol:28052 semapv:UnspecifiedMatching +OMIM:613553 XPNPEP3 skos:exactMatch hgnc.symbol:XPNPEP3 semapv:UnspecifiedMatching +OMIM:613553 XPNPEP3 skos:exactMatch ncbigene:63929 semapv:UnspecifiedMatching +OMIM:613554 von willebrand disease, iia 2 skos:exactMatch MONDO:0013304 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch UMLS:C2680470 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch UMLS:C5394586 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch UMLS:C5394587 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch hgnc.symbol:28313 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch hgnc.symbol:TET3 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch ncbigene:200424 semapv:UnspecifiedMatching +OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:32915 semapv:UnspecifiedMatching +OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:MIR659 semapv:UnspecifiedMatching +OMIM:613556 MIR659 skos:exactMatch ncbigene:724029 semapv:UnspecifiedMatching +OMIM:613558 deafness, autosomal dominant 51 skos:exactMatch MONDO:0013305 semapv:UnspecifiedMatching +OMIM:613559 combined oxidative phosphorylation deficiency 7 skos:exactMatch MONDO:0013306 semapv:UnspecifiedMatching +OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:23373 semapv:UnspecifiedMatching +OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:NTMT1 semapv:UnspecifiedMatching +OMIM:613560 NTMT1 skos:exactMatch ncbigene:28989 semapv:UnspecifiedMatching +OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch MONDO:0013307 semapv:UnspecifiedMatching +OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:31910 semapv:UnspecifiedMatching +OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:FCRL6 semapv:UnspecifiedMatching +OMIM:613562 FCRL6 skos:exactMatch ncbigene:343413 semapv:UnspecifiedMatching +OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia skos:exactMatch MONDO:0013308 semapv:UnspecifiedMatching +OMIM:613564 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch MONDO:0013309 semapv:UnspecifiedMatching +OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:12500 semapv:UnspecifiedMatching +OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:UBE4B semapv:UnspecifiedMatching +OMIM:613565 UBE4B skos:exactMatch ncbigene:10277 semapv:UnspecifiedMatching +OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:13050 semapv:UnspecifiedMatching +OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:ZMYM6 semapv:UnspecifiedMatching +OMIM:613567 ZMYM6 skos:exactMatch ncbigene:9204 semapv:UnspecifiedMatching +OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:13055 semapv:UnspecifiedMatching +OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:ZMYM4 semapv:UnspecifiedMatching +OMIM:613568 ZMYM4 skos:exactMatch ncbigene:9202 semapv:UnspecifiedMatching +OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:14210 semapv:UnspecifiedMatching +OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:SUN2 semapv:UnspecifiedMatching +OMIM:613569 SUN2 skos:exactMatch ncbigene:25777 semapv:UnspecifiedMatching +OMIM:613570 LDAH skos:exactMatch hgnc.symbol:26145 semapv:UnspecifiedMatching +OMIM:613570 LDAH skos:exactMatch hgnc.symbol:LDAH semapv:UnspecifiedMatching +OMIM:613570 LDAH skos:exactMatch ncbigene:60526 semapv:UnspecifiedMatching +OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 semapv:UnspecifiedMatching +OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:18510 semapv:UnspecifiedMatching +OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:GPRC6A semapv:UnspecifiedMatching +OMIM:613572 GPRC6A skos:exactMatch ncbigene:222545 semapv:UnspecifiedMatching +OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 skos:exactMatch MONDO:0024565 semapv:UnspecifiedMatching +OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:23704 semapv:UnspecifiedMatching +OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:TTC39B semapv:UnspecifiedMatching +OMIM:613574 TTC39B skos:exactMatch ncbigene:158219 semapv:UnspecifiedMatching +OMIM:613575 retinitis pigmentosa 55 skos:exactMatch MONDO:0013312 semapv:UnspecifiedMatching +OMIM:613575 retinitis pigmentosa 55 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:613575 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching +OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 skos:exactMatch MONDO:0013313 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1823245 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1842531 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C2829265 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3892048 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:29203 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:TBC1D24 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch ncbigene:57465 semapv:UnspecifiedMatching +OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:9486 semapv:UnspecifiedMatching +OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:PRSS3 semapv:UnspecifiedMatching +OMIM:613578 PRSS3 skos:exactMatch ncbigene:5646 semapv:UnspecifiedMatching +OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:14556 semapv:UnspecifiedMatching +OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:CLEC6A semapv:UnspecifiedMatching +OMIM:613579 CLEC6A skos:exactMatch ncbigene:93978 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C2681211 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C3150127 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C4017315 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch UMLS:C4017316 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:28027 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:WDPCP semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch ncbigene:51057 semapv:UnspecifiedMatching +OMIM:613581 retinitis pigmentosa 56 skos:exactMatch MONDO:0013314 semapv:UnspecifiedMatching +OMIM:613582 retinitis pigmentosa 57 skos:exactMatch MONDO:0013315 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C1823826 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C3501830 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch UMLS:C4017318 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:24502 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:WDR62 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch ncbigene:284403 semapv:UnspecifiedMatching +OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:26777 semapv:UnspecifiedMatching +OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:ALDH1L2 semapv:UnspecifiedMatching +OMIM:613584 ALDH1L2 skos:exactMatch ncbigene:160428 semapv:UnspecifiedMatching +OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:30414 semapv:UnspecifiedMatching +OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:TMEM147 semapv:UnspecifiedMatching +OMIM:613585 TMEM147 skos:exactMatch ncbigene:10430 semapv:UnspecifiedMatching +OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:29540 semapv:UnspecifiedMatching +OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:NOB1 semapv:UnspecifiedMatching +OMIM:613586 NOB1 skos:exactMatch ncbigene:28987 semapv:UnspecifiedMatching +OMIM:613587 occult macular dystrophy skos:exactMatch MONDO:0013316 semapv:UnspecifiedMatching +OMIM:613587 occult macular dystrophy skos:exactMatch Orphanet:247834 semapv:UnspecifiedMatching +OMIM:613587 occult macular dystrophy skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching +OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:2052 semapv:UnspecifiedMatching +OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:CLEC3A semapv:UnspecifiedMatching +OMIM:613588 CLEC3A skos:exactMatch ncbigene:10143 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch UMLS:C1412843 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:1136 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:BTN2A1 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch ncbigene:11120 semapv:UnspecifiedMatching +OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:1137 semapv:UnspecifiedMatching +OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:BTN2A2 semapv:UnspecifiedMatching +OMIM:613591 BTN2A2 skos:exactMatch ncbigene:10385 semapv:UnspecifiedMatching +OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:13229 semapv:UnspecifiedMatching +OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:BTN2A3P semapv:UnspecifiedMatching +OMIM:613592 BTN2A3 skos:exactMatch ncbigene:54718 semapv:UnspecifiedMatching +OMIM:613593 BTN3A1 skos:exactMatch UMLS:C1412845 semapv:UnspecifiedMatching +OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:1138 semapv:UnspecifiedMatching +OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:BTN3A1 semapv:UnspecifiedMatching +OMIM:613593 BTN3A1 skos:exactMatch ncbigene:11119 semapv:UnspecifiedMatching +OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:1139 semapv:UnspecifiedMatching +OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:BTN3A2 semapv:UnspecifiedMatching +OMIM:613594 BTN3A2 skos:exactMatch ncbigene:11118 semapv:UnspecifiedMatching +OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:1140 semapv:UnspecifiedMatching +OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:BTN3A3 semapv:UnspecifiedMatching +OMIM:613595 BTN3A3 skos:exactMatch ncbigene:10384 semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch UMLS:C2681489 semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:25808 semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:FAM161A semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch ncbigene:84140 semapv:UnspecifiedMatching +OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:25155 semapv:UnspecifiedMatching +OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:HOGA1 semapv:UnspecifiedMatching +OMIM:613597 HOGA1 skos:exactMatch ncbigene:112817 semapv:UnspecifiedMatching +OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:26498 semapv:UnspecifiedMatching +OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:ZNF513 semapv:UnspecifiedMatching +OMIM:613598 ZNF513 skos:exactMatch ncbigene:130557 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch UMLS:C1825822 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:15868 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:ABHD12 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch ncbigene:26090 semapv:UnspecifiedMatching +OMIM:613600 torsade lange pointes, short-coupled variant skos:exactMatch MONDO:0013317 semapv:UnspecifiedMatching +OMIM:613601 early repolarization associated with ventricular fibrillation skos:exactMatch MONDO:0013318 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C1428820 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C4017319 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C4694035 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:29250 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:WDR35 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch ncbigene:57539 semapv:UnspecifiedMatching +OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome skos:exactMatch MONDO:0013319 semapv:UnspecifiedMatching +OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome skos:exactMatch UMLS:C3150857 semapv:UnspecifiedMatching +OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb skos:exactMatch MONDO:0013320 semapv:UnspecifiedMatching +OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:28093 semapv:UnspecifiedMatching +OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:BBIP1 semapv:UnspecifiedMatching +OMIM:613605 BBIP1 skos:exactMatch ncbigene:92482 semapv:UnspecifiedMatching +OMIM:613606 forsythe-wakeling syndrome skos:exactMatch MONDO:0013321 semapv:UnspecifiedMatching +OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:21569 semapv:UnspecifiedMatching +OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:THEMIS semapv:UnspecifiedMatching +OMIM:613607 THEMIS skos:exactMatch ncbigene:387357 semapv:UnspecifiedMatching +OMIM:613608 epilepsy, familial adult myoclonic, 3 skos:exactMatch MONDO:0013322 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C1384665 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C2673517 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C2673518 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C2673520 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C3280096 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C3469186 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C4017321 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch UMLS:C4017322 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch hgnc.symbol:4886 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch hgnc.symbol:HFE semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch ncbigene:3077 semapv:UnspecifiedMatching +OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch MONDO:0013323 semapv:UnspecifiedMatching +OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching +OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching +OMIM:613611 choanal atresia and lymphedema skos:exactMatch MONDO:0013324 semapv:UnspecifiedMatching +OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch MONDO:0013325 semapv:UnspecifiedMatching +OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch Orphanet:263487 semapv:UnspecifiedMatching +OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching +OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:33669 semapv:UnspecifiedMatching +OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:MIR208B semapv:UnspecifiedMatching +OMIM:613613 MIR208B skos:exactMatch ncbigene:100126336 semapv:UnspecifiedMatching +OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:32133 semapv:UnspecifiedMatching +OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:MIR499A semapv:UnspecifiedMatching +OMIM:613614 MIR499 skos:exactMatch ncbigene:574501 semapv:UnspecifiedMatching +OMIM:613615 senior-loken syndrome 7 skos:exactMatch MONDO:0013326 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch MONDO:0013327 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch UMLS:C3150878 semapv:UnspecifiedMatching +OMIM:613617 retinitis pigmentosa 58 skos:exactMatch MONDO:0013328 semapv:UnspecifiedMatching +OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome skos:exactMatch MONDO:0013329 semapv:UnspecifiedMatching +OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:19869 semapv:UnspecifiedMatching +OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:SCARF2 semapv:UnspecifiedMatching +OMIM:613619 SCARF2 skos:exactMatch ncbigene:91179 semapv:UnspecifiedMatching +OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:24510 semapv:UnspecifiedMatching +OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:TBC1D10B semapv:UnspecifiedMatching +OMIM:613620 TBC1D10B skos:exactMatch ncbigene:26000 semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch UMLS:C1538495 semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:20278 semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:NUBPL semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch ncbigene:80224 semapv:UnspecifiedMatching +OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:26927 semapv:UnspecifiedMatching +OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:FOXRED1 semapv:UnspecifiedMatching +OMIM:613622 FOXRED1 skos:exactMatch ncbigene:55572 semapv:UnspecifiedMatching +OMIM:613623 agenesis of the corpus callosum and congenital lymphedema skos:exactMatch MONDO:0013330 semapv:UnspecifiedMatching +OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:28986 semapv:UnspecifiedMatching +OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:ZNF592 semapv:UnspecifiedMatching +OMIM:613624 ZNF592 skos:exactMatch ncbigene:9640 semapv:UnspecifiedMatching +OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 skos:exactMatch MONDO:0013331 semapv:UnspecifiedMatching +OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation skos:exactMatch MONDO:0013332 semapv:UnspecifiedMatching +OMIM:613628 odontoid hypoplasia skos:exactMatch MONDO:0013333 semapv:UnspecifiedMatching +OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:26270 semapv:UnspecifiedMatching +OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:PIEZO2 semapv:UnspecifiedMatching +OMIM:613629 PIEZO2 skos:exactMatch ncbigene:63895 semapv:UnspecifiedMatching +OMIM:613630 fetal encasement syndrome skos:exactMatch MONDO:0013334 semapv:UnspecifiedMatching +OMIM:613630 fetal encasement syndrome skos:exactMatch Orphanet:465824 semapv:UnspecifiedMatching +OMIM:613630 fetal encasement syndrome skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching +OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:23414 semapv:UnspecifiedMatching +OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:WASHC2C semapv:UnspecifiedMatching +OMIM:613631 WASHC2C skos:exactMatch ncbigene:253725 semapv:UnspecifiedMatching +OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:24361 semapv:UnspecifiedMatching +OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:WASHC1 semapv:UnspecifiedMatching +OMIM:613632 WASHC1 skos:exactMatch ncbigene:100287171 semapv:UnspecifiedMatching +OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:29324 semapv:UnspecifiedMatching +OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:DENND1A semapv:UnspecifiedMatching +OMIM:613633 DENND1A skos:exactMatch ncbigene:57706 semapv:UnspecifiedMatching +OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:26225 semapv:UnspecifiedMatching +OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:DENND1C semapv:UnspecifiedMatching +OMIM:613634 DENND1C skos:exactMatch ncbigene:79958 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C1539340 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:24921 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:EIF2AK1 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch ncbigene:27102 semapv:UnspecifiedMatching +OMIM:613636 tuberculin skin test reactivity, absence of skos:exactMatch MONDO:0013335 semapv:UnspecifiedMatching +OMIM:613638 chromosome 19p13.13 deletion syndrome skos:exactMatch MONDO:0013336 semapv:UnspecifiedMatching +OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:19893 semapv:UnspecifiedMatching +OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:ADGRD1 semapv:UnspecifiedMatching +OMIM:613639 ADGRD1 skos:exactMatch ncbigene:283383 semapv:UnspecifiedMatching +OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c skos:exactMatch MONDO:0013337 semapv:UnspecifiedMatching +OMIM:613641 charcot-marie-tooth disease, recessive intermediate B skos:exactMatch MONDO:0013338 semapv:UnspecifiedMatching +OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch MONDO:0013339 semapv:UnspecifiedMatching +OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch UMLS:C3150898 semapv:UnspecifiedMatching +OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch MONDO:0013340 semapv:UnspecifiedMatching +OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:20092 semapv:UnspecifiedMatching +OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:ATF7IP semapv:UnspecifiedMatching +OMIM:613644 ATF7IP skos:exactMatch ncbigene:55729 semapv:UnspecifiedMatching +OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:20397 semapv:UnspecifiedMatching +OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:ATF7IP2 semapv:UnspecifiedMatching +OMIM:613645 ATF7IP2 skos:exactMatch ncbigene:80063 semapv:UnspecifiedMatching +OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect skos:exactMatch MONDO:0013341 semapv:UnspecifiedMatching +OMIM:613647 spastic paraplegia 48, autosomal recessive skos:exactMatch MONDO:0013342 semapv:UnspecifiedMatching +OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:14574 semapv:UnspecifiedMatching +OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:MEG8 semapv:UnspecifiedMatching +OMIM:613648 MEG8 skos:exactMatch ncbigene:79104 semapv:UnspecifiedMatching +OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:32777 semapv:UnspecifiedMatching +OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:SNORD112 semapv:UnspecifiedMatching +OMIM:613649 SNORD112 skos:exactMatch ncbigene:692215 semapv:UnspecifiedMatching +OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:32980 semapv:UnspecifiedMatching +OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:SNORD113-1 semapv:UnspecifiedMatching +OMIM:613650 SNORD113-1 skos:exactMatch ncbigene:767561 semapv:UnspecifiedMatching +OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:32989 semapv:UnspecifiedMatching +OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:SNORD114-1 semapv:UnspecifiedMatching +OMIM:613651 SNORD114-1 skos:exactMatch ncbigene:767577 semapv:UnspecifiedMatching +OMIM:613652 c1q deficiency 1 skos:exactMatch MONDO:0958182 semapv:UnspecifiedMatching +OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:22197 semapv:UnspecifiedMatching +OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:AP5Z1 semapv:UnspecifiedMatching +OMIM:613653 AP5Z1 skos:exactMatch ncbigene:9907 semapv:UnspecifiedMatching +OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:31873 semapv:UnspecifiedMatching +OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:MIR380 semapv:UnspecifiedMatching +OMIM:613654 MIR380 skos:exactMatch ncbigene:494329 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch UMLS:C1537435 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch UMLS:C4225479 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:19439 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:KCNK18 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch ncbigene:338567 semapv:UnspecifiedMatching +OMIM:613656 migraine with aura, susceptibility to, 13 skos:exactMatch MONDO:0013344 semapv:UnspecifiedMatching +OMIM:613656 migraine with aura, susceptibility to, 13 skos:exactMatch UMLS:C3150908 semapv:UnspecifiedMatching +OMIM:613657 d-2-hydroxyglutaric aciduria 2 skos:exactMatch MONDO:0013345 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch MONDO:0100215 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C3150910 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching +OMIM:613659 gastric cancer skos:exactMatch MONDO:0001056 semapv:UnspecifiedMatching +OMIM:613660 cone-rod dystrophy 15 skos:exactMatch MONDO:0013348 semapv:UnspecifiedMatching +OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch MONDO:0013349 semapv:UnspecifiedMatching +OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch Orphanet:280071 semapv:UnspecifiedMatching +OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching +OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) skos:exactMatch MONDO:0013350 semapv:UnspecifiedMatching +OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:25543 semapv:UnspecifiedMatching +OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:SHQ1 semapv:UnspecifiedMatching +OMIM:613663 SHQ1 skos:exactMatch ncbigene:55164 semapv:UnspecifiedMatching +OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:32394 semapv:UnspecifiedMatching +OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:SMTNL1 semapv:UnspecifiedMatching +OMIM:613664 SMTNL1 skos:exactMatch ncbigene:219537 semapv:UnspecifiedMatching +OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:4035 semapv:UnspecifiedMatching +OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:ACKR1 semapv:UnspecifiedMatching +OMIM:613665 ACKR1 skos:exactMatch ncbigene:2532 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch UMLS:C1876205 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:32456 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:ALG11 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch ncbigene:440138 semapv:UnspecifiedMatching +OMIM:613667 SOBP skos:exactMatch hgnc.symbol:29256 semapv:UnspecifiedMatching +OMIM:613667 SOBP skos:exactMatch hgnc.symbol:SOBP semapv:UnspecifiedMatching +OMIM:613667 SOBP skos:exactMatch ncbigene:55084 semapv:UnspecifiedMatching +OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy skos:exactMatch MONDO:0013351 semapv:UnspecifiedMatching +OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:25532 semapv:UnspecifiedMatching +OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:MTPAP semapv:UnspecifiedMatching +OMIM:613669 MTPAP skos:exactMatch ncbigene:55149 semapv:UnspecifiedMatching +OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features skos:exactMatch MONDO:0013352 semapv:UnspecifiedMatching +OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus skos:exactMatch MONDO:0013353 semapv:UnspecifiedMatching +OMIM:613672 spastic ataxia 4, autosomal recessive skos:exactMatch MONDO:0013354 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch MONDO:0013355 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching +OMIM:613674 vesicoureteral reflux 3 skos:exactMatch MONDO:0013356 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch MONDO:0013357 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:97685 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch UMLS:C3150928 semapv:UnspecifiedMatching +OMIM:613676 seckel syndrome 4 skos:exactMatch MONDO:0013358 semapv:UnspecifiedMatching +OMIM:613677 hyperaldosteronism, familial, iia 3 skos:exactMatch MONDO:0013359 semapv:UnspecifiedMatching +OMIM:613678 brachyolmia iia 2 skos:exactMatch MONDO:0013360 semapv:UnspecifiedMatching +OMIM:613679 prothrombin deficiency, congenital skos:exactMatch MONDO:0013361 semapv:UnspecifiedMatching +OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch MONDO:0013362 semapv:UnspecifiedMatching +OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch Orphanet:363444 semapv:UnspecifiedMatching +OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching +OMIM:613681 chromosome 2q31.1 duplication syndrome skos:exactMatch MONDO:0013363 semapv:UnspecifiedMatching +OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:31515 semapv:UnspecifiedMatching +OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:MIR130B semapv:UnspecifiedMatching +OMIM:613682 MIR130B skos:exactMatch ncbigene:406920 semapv:UnspecifiedMatching +OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:30657 semapv:UnspecifiedMatching +OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:SLC50A1 semapv:UnspecifiedMatching +OMIM:613683 SLC50A1 skos:exactMatch ncbigene:55974 semapv:UnspecifiedMatching +OMIM:613684 rubinstein-taybi syndrome 2 skos:exactMatch MONDO:0013364 semapv:UnspecifiedMatching +OMIM:613685 deafness, autosomal recessive 83 skos:exactMatch MONDO:0013365 semapv:UnspecifiedMatching +OMIM:613686 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch MONDO:0013366 semapv:UnspecifiedMatching +OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:26074 semapv:UnspecifiedMatching +OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:PARPBP semapv:UnspecifiedMatching +OMIM:613687 PARPBP skos:exactMatch ncbigene:55010 semapv:UnspecifiedMatching +OMIM:613688 long qt syndrome 2 skos:exactMatch MONDO:0013367 semapv:UnspecifiedMatching +OMIM:613689 mammary-digital-nail syndrome skos:exactMatch MONDO:0013368 semapv:UnspecifiedMatching +OMIM:613689 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching +OMIM:613689 mammary-digital-nail syndrome skos:exactMatch UMLS:C3150946 semapv:UnspecifiedMatching +OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch MONDO:0013369 semapv:UnspecifiedMatching +OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch UMLS:C1860752 semapv:UnspecifiedMatching +OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:29113 semapv:UnspecifiedMatching +OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:GRAMD4 semapv:UnspecifiedMatching +OMIM:613691 GRAMD4 skos:exactMatch ncbigene:23151 semapv:UnspecifiedMatching +OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:28981 semapv:UnspecifiedMatching +OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:TUT4 semapv:UnspecifiedMatching +OMIM:613692 TUT4 skos:exactMatch ncbigene:23318 semapv:UnspecifiedMatching +OMIM:613693 long qt syndrome 6 skos:exactMatch MONDO:0013370 semapv:UnspecifiedMatching +OMIM:613694 cardiomyopathy, dilated, 1u skos:exactMatch MONDO:0013371 semapv:UnspecifiedMatching +OMIM:613695 long qt syndrome 5 skos:exactMatch MONDO:0013372 semapv:UnspecifiedMatching +OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:14533 semapv:UnspecifiedMatching +OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:UBTFL1 semapv:UnspecifiedMatching +OMIM:613696 UBTFL1 skos:exactMatch ncbigene:642623 semapv:UnspecifiedMatching +OMIM:613697 cardiomyopathy, dilated, 1v skos:exactMatch MONDO:0013373 semapv:UnspecifiedMatching +OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:1421 semapv:UnspecifiedMatching +OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:SLC25A20 semapv:UnspecifiedMatching +OMIM:613698 SLC25A20 skos:exactMatch ncbigene:788 semapv:UnspecifiedMatching +OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:23671 semapv:UnspecifiedMatching +OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:GLT6D1 semapv:UnspecifiedMatching +OMIM:613699 GLT6D1 skos:exactMatch ncbigene:360203 semapv:UnspecifiedMatching +OMIM:613700 supernumerary der(22)t(8 skos:exactMatch MONDO:0013374 semapv:UnspecifiedMatching +OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:31770 semapv:UnspecifiedMatching +OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:MIR328 semapv:UnspecifiedMatching +OMIM:613701 MIR328 skos:exactMatch ncbigene:442901 semapv:UnspecifiedMatching +OMIM:613702 klippel-feil syndrome 3, autosomal dominant skos:exactMatch MONDO:0013375 semapv:UnspecifiedMatching +OMIM:613703 microphthalmia, isolated, with coloboma 6 skos:exactMatch MONDO:0013376 semapv:UnspecifiedMatching +OMIM:613704 microphthalmia, isolated 7 skos:exactMatch MONDO:0013377 semapv:UnspecifiedMatching +OMIM:613705 orofacial cleft 10 skos:exactMatch MONDO:0013378 semapv:UnspecifiedMatching +OMIM:613706 noonan syndrome 7 skos:exactMatch MONDO:0013379 semapv:UnspecifiedMatching +OMIM:613707 leopard syndrome 3 skos:exactMatch MONDO:0013380 semapv:UnspecifiedMatching +OMIM:613708 neuropathy, hereditary sensory, iia 1d skos:exactMatch MONDO:0013381 semapv:UnspecifiedMatching +OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:6583 semapv:UnspecifiedMatching +OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:EIF2D semapv:UnspecifiedMatching +OMIM:613709 EIF2D skos:exactMatch ncbigene:1939 semapv:UnspecifiedMatching +OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) skos:exactMatch MONDO:0013382 semapv:UnspecifiedMatching +OMIM:613711 hirschsprung disease, susceptibility to, 3 skos:exactMatch MONDO:0013383 semapv:UnspecifiedMatching +OMIM:613712 hirschsprung disease, susceptibility to, 4 skos:exactMatch MONDO:0013384 semapv:UnspecifiedMatching +OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:25653 semapv:UnspecifiedMatching +OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:PCID2 semapv:UnspecifiedMatching +OMIM:613713 PCID2 skos:exactMatch ncbigene:55795 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:42400 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:NCR3LG1 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch ncbigene:374383 semapv:UnspecifiedMatching +OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:20422 semapv:UnspecifiedMatching +OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:POLR1D semapv:UnspecifiedMatching +OMIM:613715 POLR1D skos:exactMatch ncbigene:51082 semapv:UnspecifiedMatching +OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:32917 semapv:UnspecifiedMatching +OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:MIR661 semapv:UnspecifiedMatching +OMIM:613716 MIR661 skos:exactMatch ncbigene:724031 semapv:UnspecifiedMatching +OMIM:613717 treacher collins syndrome 2 skos:exactMatch MONDO:0013385 semapv:UnspecifiedMatching +OMIM:613718 deafness, autosomal recessive 74 skos:exactMatch MONDO:0013386 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch UMLS:C1537982 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch UMLS:C2239351 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:27375 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:MSRB3 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch ncbigene:253827 semapv:UnspecifiedMatching +OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch MONDO:0013387 semapv:UnspecifiedMatching +OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch Orphanet:439218 semapv:UnspecifiedMatching +OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching +OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch MONDO:0013388 semapv:UnspecifiedMatching +OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching +OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch MONDO:0013389 semapv:UnspecifiedMatching +OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching +OMIM:613723 muscular dystrophy, limb-girdle, autosomal recessive 17 skos:exactMatch MONDO:0013390 semapv:UnspecifiedMatching +OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy skos:exactMatch MONDO:0013391 semapv:UnspecifiedMatching +OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:21065 semapv:UnspecifiedMatching +OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:SLC25A27 semapv:UnspecifiedMatching +OMIM:613725 SLC25A27 skos:exactMatch ncbigene:9481 semapv:UnspecifiedMatching +OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:25519 semapv:UnspecifiedMatching +OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:ANO10 semapv:UnspecifiedMatching +OMIM:613726 ANO10 skos:exactMatch ncbigene:55129 semapv:UnspecifiedMatching +OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:37227 semapv:UnspecifiedMatching +OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:KBTBD13 semapv:UnspecifiedMatching +OMIM:613727 KBTBD13 skos:exactMatch ncbigene:390594 semapv:UnspecifiedMatching +OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 skos:exactMatch MONDO:0013392 semapv:UnspecifiedMatching +OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb skos:exactMatch MONDO:0013393 semapv:UnspecifiedMatching +OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts skos:exactMatch MONDO:0013394 semapv:UnspecifiedMatching +OMIM:613731 retinitis pigmentosa 4 skos:exactMatch MONDO:0013395 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C0694884 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C2675664 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4017330 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4017331 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4017332 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4479701 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch UMLS:C4551961 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:7010 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:MEN1 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch ncbigene:4221 semapv:UnspecifiedMatching +OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:28178 semapv:UnspecifiedMatching +OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:CCDC115 semapv:UnspecifiedMatching +OMIM:613734 CCDC115 skos:exactMatch ncbigene:84317 semapv:UnspecifiedMatching +OMIM:613735 brain malformations with or without urinary tract defects skos:exactMatch MONDO:0100478 semapv:UnspecifiedMatching +OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease skos:exactMatch MONDO:0013397 semapv:UnspecifiedMatching +OMIM:613737 acne inversa, familial, 3 skos:exactMatch MONDO:0013398 semapv:UnspecifiedMatching +OMIM:613738 AGMO skos:exactMatch hgnc.symbol:33784 semapv:UnspecifiedMatching +OMIM:613738 AGMO skos:exactMatch hgnc.symbol:AGMO semapv:UnspecifiedMatching +OMIM:613738 AGMO skos:exactMatch ncbigene:392636 semapv:UnspecifiedMatching +OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:29560 semapv:UnspecifiedMatching +OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:THYN1 semapv:UnspecifiedMatching +OMIM:613739 THYN1 skos:exactMatch ncbigene:29087 semapv:UnspecifiedMatching +OMIM:613740 skos:exactMatch MONDO:0000911 semapv:UnspecifiedMatching +OMIM:613741 PYGL skos:exactMatch hgnc.symbol:9725 semapv:UnspecifiedMatching +OMIM:613741 PYGL skos:exactMatch hgnc.symbol:PYGL semapv:UnspecifiedMatching +OMIM:613741 PYGL skos:exactMatch ncbigene:5836 semapv:UnspecifiedMatching +OMIM:613742 G6PC skos:exactMatch hgnc.symbol:4056 semapv:UnspecifiedMatching +OMIM:613742 G6PC skos:exactMatch hgnc.symbol:G6PC1 semapv:UnspecifiedMatching +OMIM:613742 G6PC skos:exactMatch ncbigene:2538 semapv:UnspecifiedMatching +OMIM:613743 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete skos:exactMatch MONDO:0013400 semapv:UnspecifiedMatching +OMIM:613744 spastic paraplegia 51, autosomal recessive skos:exactMatch MONDO:0013401 semapv:UnspecifiedMatching +OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:24077 semapv:UnspecifiedMatching +OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:ANAPC10 semapv:UnspecifiedMatching +OMIM:613745 ANAPC10 skos:exactMatch ncbigene:10393 semapv:UnspecifiedMatching +OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:22170 semapv:UnspecifiedMatching +OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:BCAR4 semapv:UnspecifiedMatching +OMIM:613746 BCAR4 skos:exactMatch ncbigene:400500 semapv:UnspecifiedMatching +OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:19916 semapv:UnspecifiedMatching +OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:KIF24 semapv:UnspecifiedMatching +OMIM:613747 KIF24 skos:exactMatch ncbigene:347240 semapv:UnspecifiedMatching +OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:21906 semapv:UnspecifiedMatching +OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:CHCHD3 semapv:UnspecifiedMatching +OMIM:613748 CHCHD3 skos:exactMatch ncbigene:54927 semapv:UnspecifiedMatching +OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:13499 semapv:UnspecifiedMatching +OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:ZNF260 semapv:UnspecifiedMatching +OMIM:613749 ZNF260 skos:exactMatch ncbigene:339324 semapv:UnspecifiedMatching +OMIM:613750 retinitis pigmentosa 27 skos:exactMatch MONDO:0013402 semapv:UnspecifiedMatching +OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch MONDO:0013403 semapv:UnspecifiedMatching +OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching +OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch UMLS:C3151057 semapv:UnspecifiedMatching +OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency skos:exactMatch MONDO:0013404 semapv:UnspecifiedMatching +OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:31588 semapv:UnspecifiedMatching +OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:MIR211 semapv:UnspecifiedMatching +OMIM:613753 MIR211 skos:exactMatch ncbigene:406993 semapv:UnspecifiedMatching +OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:27146 semapv:UnspecifiedMatching +OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:RNF187 semapv:UnspecifiedMatching +OMIM:613754 RNF187 skos:exactMatch ncbigene:149603 semapv:UnspecifiedMatching +OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:31769 semapv:UnspecifiedMatching +OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:MIR326 semapv:UnspecifiedMatching +OMIM:613755 MIR326 skos:exactMatch ncbigene:442900 semapv:UnspecifiedMatching +OMIM:613756 retinitis pigmentosa 49 skos:exactMatch MONDO:0013405 semapv:UnspecifiedMatching +OMIM:613757 macular degeneration, age-related, 6 skos:exactMatch MONDO:0013406 semapv:UnspecifiedMatching +OMIM:613758 retinitis pigmentosa 47 skos:exactMatch MONDO:0013407 semapv:UnspecifiedMatching +OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction skos:exactMatch MONDO:0013408 semapv:UnspecifiedMatching +OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:19660 semapv:UnspecifiedMatching +OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:SLC36A4 semapv:UnspecifiedMatching +OMIM:613760 SLC36A4 skos:exactMatch ncbigene:120103 semapv:UnspecifiedMatching +OMIM:613761 macular degeneration, age-related, 5 skos:exactMatch MONDO:0013409 semapv:UnspecifiedMatching +OMIM:613762 46,xy sex reversal 6 skos:exactMatch MONDO:0013410 semapv:UnspecifiedMatching +OMIM:613763 cataract 16, multiple types skos:exactMatch MONDO:0013411 semapv:UnspecifiedMatching +OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:30385 semapv:UnspecifiedMatching +OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:SCAMP4 semapv:UnspecifiedMatching +OMIM:613764 SCAMP4 skos:exactMatch ncbigene:113178 semapv:UnspecifiedMatching +OMIM:613765 cardiomyopathy, familial hypertrophic, 9 skos:exactMatch MONDO:0013412 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch UMLS:C1428974 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:30386 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:SCAMP5 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch ncbigene:192683 semapv:UnspecifiedMatching +OMIM:613767 retinitis pigmentosa 45 skos:exactMatch MONDO:0013413 semapv:UnspecifiedMatching +OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:14539 semapv:UnspecifiedMatching +OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:RNF213 semapv:UnspecifiedMatching +OMIM:613768 RNF213 skos:exactMatch ncbigene:57674 semapv:UnspecifiedMatching +OMIM:613769 retinitis pigmentosa 44 skos:exactMatch MONDO:0013414 semapv:UnspecifiedMatching +OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:14616 semapv:UnspecifiedMatching +OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:PLAC4 semapv:UnspecifiedMatching +OMIM:613770 PLAC4 skos:exactMatch ncbigene:191585 semapv:UnspecifiedMatching +OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:29631 semapv:UnspecifiedMatching +OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:TMEM205 semapv:UnspecifiedMatching +OMIM:613771 TMEM205 skos:exactMatch ncbigene:374882 semapv:UnspecifiedMatching +OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:29266 semapv:UnspecifiedMatching +OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:KLHL14 semapv:UnspecifiedMatching +OMIM:613772 KLHL14 skos:exactMatch ncbigene:57565 semapv:UnspecifiedMatching +OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:32326 semapv:UnspecifiedMatching +OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:IGSF9B semapv:UnspecifiedMatching +OMIM:613773 IGSF9B skos:exactMatch ncbigene:22997 semapv:UnspecifiedMatching +OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:19946 semapv:UnspecifiedMatching +OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:CAMSAP1 semapv:UnspecifiedMatching +OMIM:613774 CAMSAP1 skos:exactMatch ncbigene:157922 semapv:UnspecifiedMatching +OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:29188 semapv:UnspecifiedMatching +OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:CAMSAP2 semapv:UnspecifiedMatching +OMIM:613775 CAMSAP2 skos:exactMatch ncbigene:23271 semapv:UnspecifiedMatching +OMIM:613776 chromosome 17p13.1 deletion syndrome skos:exactMatch MONDO:0013415 semapv:UnspecifiedMatching +OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:26264 semapv:UnspecifiedMatching +OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:FOXRED2 semapv:UnspecifiedMatching +OMIM:613777 FOXRED2 skos:exactMatch ncbigene:80020 semapv:UnspecifiedMatching +OMIM:613778 macular degeneration, age-related, 8 skos:exactMatch MONDO:0013416 semapv:UnspecifiedMatching +OMIM:613779 complement component 3 deficiency, autosomal recessive skos:exactMatch MONDO:0013417 semapv:UnspecifiedMatching +OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch MONDO:0013418 semapv:UnspecifiedMatching +OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch Orphanet:91387 semapv:UnspecifiedMatching +OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching +OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:28924 semapv:UnspecifiedMatching +OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:CCDC125 semapv:UnspecifiedMatching +OMIM:613781 CCDC125 skos:exactMatch ncbigene:202243 semapv:UnspecifiedMatching +OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:17061 semapv:UnspecifiedMatching +OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:MSRB2 semapv:UnspecifiedMatching +OMIM:613782 MSRB2 skos:exactMatch ncbigene:22921 semapv:UnspecifiedMatching +OMIM:613783 complement component c1s deficiency skos:exactMatch MONDO:0013419 semapv:UnspecifiedMatching +OMIM:613784 macular degeneration, age-related, 12 skos:exactMatch MONDO:0013420 semapv:UnspecifiedMatching +OMIM:613785 C1R skos:exactMatch hgnc.symbol:1246 semapv:UnspecifiedMatching +OMIM:613785 C1R skos:exactMatch hgnc.symbol:C1R semapv:UnspecifiedMatching +OMIM:613785 C1R skos:exactMatch ncbigene:715 semapv:UnspecifiedMatching +OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:31535 semapv:UnspecifiedMatching +OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:MIR148A semapv:UnspecifiedMatching +OMIM:613786 MIR148A skos:exactMatch ncbigene:406940 semapv:UnspecifiedMatching +OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:31761 semapv:UnspecifiedMatching +OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:MIR148B semapv:UnspecifiedMatching +OMIM:613787 MIR148B skos:exactMatch ncbigene:442892 semapv:UnspecifiedMatching +OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:31538 semapv:UnspecifiedMatching +OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:MIR152 semapv:UnspecifiedMatching +OMIM:613788 MIR152 skos:exactMatch ncbigene:406943 semapv:UnspecifiedMatching +OMIM:613789 complement component 8 deficiency, iia 2 skos:exactMatch MONDO:0013421 semapv:UnspecifiedMatching +OMIM:613790 complement component 8 deficiency, iia 1 skos:exactMatch MONDO:0013422 semapv:UnspecifiedMatching +OMIM:613791 masp2 deficiency skos:exactMatch MONDO:0013423 semapv:UnspecifiedMatching +OMIM:613792 chromosome 3pter-p25 deletion syndrome skos:exactMatch MONDO:0013424 semapv:UnspecifiedMatching +OMIM:613794 retinitis pigmentosa 20 skos:exactMatch MONDO:0013425 semapv:UnspecifiedMatching +OMIM:613795 loeys-dietz syndrome 3 skos:exactMatch MONDO:0013426 semapv:UnspecifiedMatching +OMIM:613796 immunodeficiency 31b skos:exactMatch MONDO:0013427 semapv:UnspecifiedMatching +OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:30405 semapv:UnspecifiedMatching +OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:PRSS33 semapv:UnspecifiedMatching +OMIM:613797 PRSS33 skos:exactMatch ncbigene:260429 semapv:UnspecifiedMatching +OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:25244 semapv:UnspecifiedMatching +OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:CCDC39 semapv:UnspecifiedMatching +OMIM:613798 CCDC39 skos:exactMatch ncbigene:339829 semapv:UnspecifiedMatching +OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:26090 semapv:UnspecifiedMatching +OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:CCDC40 semapv:UnspecifiedMatching +OMIM:613799 CCDC40 skos:exactMatch ncbigene:55036 semapv:UnspecifiedMatching +OMIM:613800 meier-gorlin syndrome 2 skos:exactMatch MONDO:0013428 semapv:UnspecifiedMatching +OMIM:613801 retinitis pigmentosa 40 skos:exactMatch MONDO:0013429 semapv:UnspecifiedMatching +OMIM:613802 MLEC skos:exactMatch hgnc.symbol:28973 semapv:UnspecifiedMatching +OMIM:613802 MLEC skos:exactMatch hgnc.symbol:MLEC semapv:UnspecifiedMatching +OMIM:613802 MLEC skos:exactMatch ncbigene:9761 semapv:UnspecifiedMatching +OMIM:613803 meier-gorlin syndrome 3 skos:exactMatch MONDO:0013430 semapv:UnspecifiedMatching +OMIM:613804 meier-gorlin syndrome 4 skos:exactMatch MONDO:0013431 semapv:UnspecifiedMatching +OMIM:613805 meier-gorlin syndrome 5 skos:exactMatch MONDO:0013432 semapv:UnspecifiedMatching +OMIM:613806 cholangitis, primary sclerosing skos:exactMatch MONDO:0013433 semapv:UnspecifiedMatching +OMIM:613807 ciliary dyskinesia, primary, 14 skos:exactMatch MONDO:0013434 semapv:UnspecifiedMatching +OMIM:613808 ciliary dyskinesia, primary, 15 skos:exactMatch MONDO:0013435 semapv:UnspecifiedMatching +OMIM:613809 retinitis pigmentosa 39 skos:exactMatch MONDO:0013436 semapv:UnspecifiedMatching +OMIM:613810 retinitis pigmentosa 43 skos:exactMatch MONDO:0013437 semapv:UnspecifiedMatching +OMIM:613811 pontocerebellar hypoplasia, iia 2d skos:exactMatch MONDO:0013438 semapv:UnspecifiedMatching +OMIM:613812 bile acid synthesis defect, congenital, 3 skos:exactMatch MONDO:0013439 semapv:UnspecifiedMatching +OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:29917 semapv:UnspecifiedMatching +OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:MDM1 semapv:UnspecifiedMatching +OMIM:613813 MDM1 skos:exactMatch ncbigene:56890 semapv:UnspecifiedMatching +OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:26006 semapv:UnspecifiedMatching +OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:TTC19 semapv:UnspecifiedMatching +OMIM:613814 TTC19 skos:exactMatch ncbigene:54902 semapv:UnspecifiedMatching +OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:2600 semapv:UnspecifiedMatching +OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:CYP21A2 semapv:UnspecifiedMatching +OMIM:613815 CYP21A2 skos:exactMatch ncbigene:1589 semapv:UnspecifiedMatching +OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:20344 semapv:UnspecifiedMatching +OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:UBR7 semapv:UnspecifiedMatching +OMIM:613816 UBR7 skos:exactMatch ncbigene:55148 semapv:UnspecifiedMatching +OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:24574 semapv:UnspecifiedMatching +OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:SPATS2L semapv:UnspecifiedMatching +OMIM:613817 SPATS2L skos:exactMatch ncbigene:26010 semapv:UnspecifiedMatching +OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 skos:exactMatch MONDO:0013440 semapv:UnspecifiedMatching +OMIM:613819 short-rib thoracic dysplasia 4 with or without polydactyly skos:exactMatch MONDO:0013441 semapv:UnspecifiedMatching +OMIM:613820 nephronophthisis 12 skos:exactMatch MONDO:0013442 semapv:UnspecifiedMatching +OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:9318 semapv:UnspecifiedMatching +OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:PPP3R2 semapv:UnspecifiedMatching +OMIM:613821 PPP3R2 skos:exactMatch ncbigene:5535 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch UMLS:C1425429 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:18296 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:PPP4R2 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch ncbigene:151987 semapv:UnspecifiedMatching +OMIM:613823 seckel syndrome 5 skos:exactMatch MONDO:0013443 semapv:UnspecifiedMatching +OMIM:613823 seckel syndrome 5 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching +OMIM:613823 seckel syndrome 5 skos:exactMatch UMLS:C3151187 semapv:UnspecifiedMatching +OMIM:613824 nephronophthisis 9 skos:exactMatch MONDO:0013444 semapv:UnspecifiedMatching +OMIM:613825 complement component 9 deficiency skos:exactMatch MONDO:0013445 semapv:UnspecifiedMatching +OMIM:613826 leber congenital amaurosis 6 skos:exactMatch MONDO:0013446 semapv:UnspecifiedMatching +OMIM:613827 retinitis pigmentosa 48 skos:exactMatch MONDO:0013447 semapv:UnspecifiedMatching +OMIM:613828 generalized epilepsy with febrile seizures plus, iia 8 skos:exactMatch MONDO:0013448 semapv:UnspecifiedMatching +OMIM:613829 leber congenital amaurosis 7 skos:exactMatch MONDO:0013449 semapv:UnspecifiedMatching +OMIM:613830 night blindness, congenital stationary, iia 1d skos:exactMatch MONDO:0013450 semapv:UnspecifiedMatching +OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:30467 semapv:UnspecifiedMatching +OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:UBR3 semapv:UnspecifiedMatching +OMIM:613831 UBR3 skos:exactMatch ncbigene:130507 semapv:UnspecifiedMatching +OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:26310 semapv:UnspecifiedMatching +OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:KANSL1L semapv:UnspecifiedMatching +OMIM:613833 KANSL1L skos:exactMatch ncbigene:151050 semapv:UnspecifiedMatching +OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch MONDO:0013452 semapv:UnspecifiedMatching +OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching +OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching +OMIM:613835 leber congenital amaurosis 8 skos:exactMatch MONDO:0013453 semapv:UnspecifiedMatching +OMIM:613837 leber congenital amaurosis 11 skos:exactMatch MONDO:0013454 semapv:UnspecifiedMatching +OMIM:613838 cardiomyopathy, familial hypertrophic, 16 skos:exactMatch MONDO:0013455 semapv:UnspecifiedMatching +OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency skos:exactMatch MONDO:0013456 semapv:UnspecifiedMatching +OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:13505 semapv:UnspecifiedMatching +OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:ZNF304 semapv:UnspecifiedMatching +OMIM:613840 ZNF304 skos:exactMatch ncbigene:57343 semapv:UnspecifiedMatching +OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:21931 semapv:UnspecifiedMatching +OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:UBN2 semapv:UnspecifiedMatching +OMIM:613841 UBN2 skos:exactMatch ncbigene:254048 semapv:UnspecifiedMatching +OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:15808 semapv:UnspecifiedMatching +OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:GZF1 semapv:UnspecifiedMatching +OMIM:613842 GZF1 skos:exactMatch ncbigene:64412 semapv:UnspecifiedMatching +OMIM:613843 leber congenital amaurosis 15 skos:exactMatch MONDO:0013457 semapv:UnspecifiedMatching +OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:12590 semapv:UnspecifiedMatching +OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:UQCRH semapv:UnspecifiedMatching +OMIM:613844 UQCRH skos:exactMatch ncbigene:7388 semapv:UnspecifiedMatching +OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch MONDO:0013458 semapv:UnspecifiedMatching +OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch Orphanet:363694 semapv:UnspecifiedMatching +OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching +OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:25774 semapv:UnspecifiedMatching +OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:TCTN2 semapv:UnspecifiedMatching +OMIM:613846 TCTN2 skos:exactMatch ncbigene:79867 semapv:UnspecifiedMatching +OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:24519 semapv:UnspecifiedMatching +OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:TCTN3 semapv:UnspecifiedMatching +OMIM:613847 TCTN3 skos:exactMatch ncbigene:26123 semapv:UnspecifiedMatching +OMIM:613848 osteogenesis imperfecta, iia 10 skos:exactMatch MONDO:0013459 semapv:UnspecifiedMatching +OMIM:613849 osteogenesis imperfecta, iia 12 skos:exactMatch MONDO:0013460 semapv:UnspecifiedMatching +OMIM:613850 inosine triphosphatase deficiency skos:exactMatch MONDO:0013461 semapv:UnspecifiedMatching +OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:18319 semapv:UnspecifiedMatching +OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:PRIMA1 semapv:UnspecifiedMatching +OMIM:613851 PRIMA1 skos:exactMatch ncbigene:145270 semapv:UnspecifiedMatching +OMIM:613852 fucosyltransferase 6 deficiency skos:exactMatch MONDO:0013462 semapv:UnspecifiedMatching +OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch MONDO:0013463 semapv:UnspecifiedMatching +OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch Orphanet:860 semapv:UnspecifiedMatching +OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching +OMIM:613855 episodic ataxia, iia 5 skos:exactMatch MONDO:0013464 semapv:UnspecifiedMatching +OMIM:613856 achromatopsia 4 skos:exactMatch MONDO:0013465 semapv:UnspecifiedMatching +OMIM:613857 orofacial cleft 13 skos:exactMatch MONDO:0013466 semapv:UnspecifiedMatching +OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:39433 semapv:UnspecifiedMatching +OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:PRSS56 semapv:UnspecifiedMatching +OMIM:613858 PRSS56 skos:exactMatch ncbigene:646960 semapv:UnspecifiedMatching +OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:12560 semapv:UnspecifiedMatching +OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:UMODL1 semapv:UnspecifiedMatching +OMIM:613859 UMODL1 skos:exactMatch ncbigene:89766 semapv:UnspecifiedMatching +OMIM:613860 ficolin 3 deficiency skos:exactMatch MONDO:0013467 semapv:UnspecifiedMatching +OMIM:613861 retinitis pigmentosa 59 skos:exactMatch MONDO:0013468 semapv:UnspecifiedMatching +OMIM:613862 retinitis pigmentosa 38 skos:exactMatch MONDO:0013469 semapv:UnspecifiedMatching +OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 skos:exactMatch MONDO:0013470 semapv:UnspecifiedMatching +OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:13507 semapv:UnspecifiedMatching +OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:ZNF317 semapv:UnspecifiedMatching +OMIM:613864 ZNF317 skos:exactMatch ncbigene:57693 semapv:UnspecifiedMatching +OMIM:613865 deafness, autosomal recessive 61 skos:exactMatch MONDO:0013471 semapv:UnspecifiedMatching +OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:17824 semapv:UnspecifiedMatching +OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:PLAAT2 semapv:UnspecifiedMatching +OMIM:613866 PLAAT2 skos:exactMatch ncbigene:54979 semapv:UnspecifiedMatching +OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:17825 semapv:UnspecifiedMatching +OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:PLAAT3 semapv:UnspecifiedMatching +OMIM:613867 PLAAT3 skos:exactMatch ncbigene:11145 semapv:UnspecifiedMatching +OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:10918 semapv:UnspecifiedMatching +OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:SLC14A1 semapv:UnspecifiedMatching +OMIM:613868 SLC14A1 skos:exactMatch ncbigene:6563 semapv:UnspecifiedMatching +OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related skos:exactMatch MONDO:0013472 semapv:UnspecifiedMatching +OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction skos:exactMatch MONDO:0013473 semapv:UnspecifiedMatching +OMIM:613871 FAH skos:exactMatch hgnc.symbol:3579 semapv:UnspecifiedMatching +OMIM:613871 FAH skos:exactMatch hgnc.symbol:FAH semapv:UnspecifiedMatching +OMIM:613871 FAH skos:exactMatch ncbigene:2184 semapv:UnspecifiedMatching +OMIM:613872 F10 skos:exactMatch hgnc.symbol:3528 semapv:UnspecifiedMatching +OMIM:613872 F10 skos:exactMatch hgnc.symbol:F10 semapv:UnspecifiedMatching +OMIM:613872 F10 skos:exactMatch ncbigene:2159 semapv:UnspecifiedMatching +OMIM:613873 cardiomyopathy, familial hypertrophic, 17 skos:exactMatch MONDO:0013474 semapv:UnspecifiedMatching +OMIM:613874 cardiomyopathy, familial hypertrophic, 18 skos:exactMatch MONDO:0013475 semapv:UnspecifiedMatching +OMIM:613876 cardiomyopathy, familial hypertrophic, 20 skos:exactMatch MONDO:0013477 semapv:UnspecifiedMatching +OMIM:613877 lipodystrophy, familial partial, iia 4 skos:exactMatch MONDO:0013478 semapv:UnspecifiedMatching +OMIM:613878 F7 skos:exactMatch hgnc.symbol:3544 semapv:UnspecifiedMatching +OMIM:613878 F7 skos:exactMatch hgnc.symbol:F7 semapv:UnspecifiedMatching +OMIM:613878 F7 skos:exactMatch ncbigene:2155 semapv:UnspecifiedMatching +OMIM:613879 TRH skos:exactMatch hgnc.symbol:12298 semapv:UnspecifiedMatching +OMIM:613879 TRH skos:exactMatch hgnc.symbol:TRH semapv:UnspecifiedMatching +OMIM:613879 TRH skos:exactMatch ncbigene:7200 semapv:UnspecifiedMatching +OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:29153 semapv:UnspecifiedMatching +OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:BAHD1 semapv:UnspecifiedMatching +OMIM:613880 BAHD1 skos:exactMatch ncbigene:22893 semapv:UnspecifiedMatching +OMIM:613881 cardiomyopathy, dilated, 1hh skos:exactMatch MONDO:0013479 semapv:UnspecifiedMatching +OMIM:613882 hypomagnesemia 6, renal skos:exactMatch MONDO:0013480 semapv:UnspecifiedMatching +OMIM:613883 KEL skos:exactMatch hgnc.symbol:6308 semapv:UnspecifiedMatching +OMIM:613883 KEL skos:exactMatch hgnc.symbol:KEL semapv:UnspecifiedMatching +OMIM:613883 KEL skos:exactMatch ncbigene:3792 semapv:UnspecifiedMatching +OMIM:613884 chromosome 13q14 deletion syndrome skos:exactMatch MONDO:0013481 semapv:UnspecifiedMatching +OMIM:613885 meckel syndrome, iia 8 skos:exactMatch MONDO:0013482 semapv:UnspecifiedMatching +OMIM:613886 obesity, hyperphagia, and developmental delay skos:exactMatch MONDO:0013483 semapv:UnspecifiedMatching +OMIM:613887 cataract 36 skos:exactMatch MONDO:0013484 semapv:UnspecifiedMatching +OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:21168 semapv:UnspecifiedMatching +OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:RHOT1 semapv:UnspecifiedMatching +OMIM:613888 RHOT1 skos:exactMatch ncbigene:55288 semapv:UnspecifiedMatching +OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:21169 semapv:UnspecifiedMatching +OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:RHOT2 semapv:UnspecifiedMatching +OMIM:613889 RHOT2 skos:exactMatch ncbigene:89941 semapv:UnspecifiedMatching +OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:5218 semapv:UnspecifiedMatching +OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:HSD3B2 semapv:UnspecifiedMatching +OMIM:613890 HSD3B2 skos:exactMatch ncbigene:3284 semapv:UnspecifiedMatching +OMIM:613891 UMPS skos:exactMatch hgnc.symbol:12563 semapv:UnspecifiedMatching +OMIM:613891 UMPS skos:exactMatch hgnc.symbol:UMPS semapv:UnspecifiedMatching +OMIM:613891 UMPS skos:exactMatch ncbigene:7372 semapv:UnspecifiedMatching +OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:22205 semapv:UnspecifiedMatching +OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:DPY19L1 semapv:UnspecifiedMatching +OMIM:613892 DPY19L1 skos:exactMatch ncbigene:23333 semapv:UnspecifiedMatching +OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:19414 semapv:UnspecifiedMatching +OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:DPY19L2 semapv:UnspecifiedMatching +OMIM:613893 DPY19L2 skos:exactMatch ncbigene:283417 semapv:UnspecifiedMatching +OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:27120 semapv:UnspecifiedMatching +OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:DPY19L3 semapv:UnspecifiedMatching +OMIM:613894 DPY19L3 skos:exactMatch ncbigene:147991 semapv:UnspecifiedMatching +OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:27829 semapv:UnspecifiedMatching +OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:DPY19L4 semapv:UnspecifiedMatching +OMIM:613895 DPY19L4 skos:exactMatch ncbigene:286148 semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch UMLS:C1412816 semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch hgnc.symbol:1093 semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch hgnc.symbol:BPGM semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch ncbigene:669 semapv:UnspecifiedMatching +OMIM:613897 FANCF skos:exactMatch hgnc.symbol:3587 semapv:UnspecifiedMatching +OMIM:613897 FANCF skos:exactMatch hgnc.symbol:FANCF semapv:UnspecifiedMatching +OMIM:613897 FANCF skos:exactMatch ncbigene:2188 semapv:UnspecifiedMatching +OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:5005 semapv:UnspecifiedMatching +OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:HMGCL semapv:UnspecifiedMatching +OMIM:613898 HMGCL skos:exactMatch ncbigene:3155 semapv:UnspecifiedMatching +OMIM:613899 FANCC skos:exactMatch hgnc.symbol:3584 semapv:UnspecifiedMatching +OMIM:613899 FANCC skos:exactMatch hgnc.symbol:FANCC semapv:UnspecifiedMatching +OMIM:613899 FANCC skos:exactMatch ncbigene:2176 semapv:UnspecifiedMatching +OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:16255 semapv:UnspecifiedMatching +OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:TGM6 semapv:UnspecifiedMatching +OMIM:613900 TGM6 skos:exactMatch ncbigene:343641 semapv:UnspecifiedMatching +OMIM:613901 RTCB skos:exactMatch hgnc.symbol:26935 semapv:UnspecifiedMatching +OMIM:613901 RTCB skos:exactMatch hgnc.symbol:RTCB semapv:UnspecifiedMatching +OMIM:613901 RTCB skos:exactMatch ncbigene:51493 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch UMLS:C1428140 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:23589 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:ZNF503 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch ncbigene:84858 semapv:UnspecifiedMatching +OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:25331 semapv:UnspecifiedMatching +OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:ZNF540 semapv:UnspecifiedMatching +OMIM:613903 ZNF540 skos:exactMatch ncbigene:163255 semapv:UnspecifiedMatching +OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:24737 semapv:UnspecifiedMatching +OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:ZNF569 semapv:UnspecifiedMatching +OMIM:613904 ZNF569 skos:exactMatch ncbigene:148266 semapv:UnspecifiedMatching +OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:25879 semapv:UnspecifiedMatching +OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:ZNF606 semapv:UnspecifiedMatching +OMIM:613905 ZNF606 skos:exactMatch ncbigene:80095 semapv:UnspecifiedMatching +OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:31834 semapv:UnspecifiedMatching +OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:ZNF641 semapv:UnspecifiedMatching +OMIM:613906 ZNF641 skos:exactMatch ncbigene:121274 semapv:UnspecifiedMatching +OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:29147 semapv:UnspecifiedMatching +OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:ZNF652 semapv:UnspecifiedMatching +OMIM:613907 ZNF652 skos:exactMatch ncbigene:22834 semapv:UnspecifiedMatching +OMIM:613908 spinocerebellar ataxia 35 skos:exactMatch MONDO:0013485 semapv:UnspecifiedMatching +OMIM:613909 spinocerebellar ataxia 32 skos:exactMatch MONDO:0013486 semapv:UnspecifiedMatching +OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:23305 semapv:UnspecifiedMatching +OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:ZNF480 semapv:UnspecifiedMatching +OMIM:613910 ZNF480 skos:exactMatch ncbigene:147657 semapv:UnspecifiedMatching +OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:23713 semapv:UnspecifiedMatching +OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:ZNF496 semapv:UnspecifiedMatching +OMIM:613911 ZNF496 skos:exactMatch ncbigene:84838 semapv:UnspecifiedMatching +OMIM:613912 complement factor d deficiency skos:exactMatch MONDO:0013487 semapv:UnspecifiedMatching +OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:exactMatch MONDO:0013488 semapv:UnspecifiedMatching +OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:21948 semapv:UnspecifiedMatching +OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:ZNF746 semapv:UnspecifiedMatching +OMIM:613914 ZNF746 skos:exactMatch ncbigene:155061 semapv:UnspecifiedMatching +OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:32550 semapv:UnspecifiedMatching +OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:ZBTB42 semapv:UnspecifiedMatching +OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch ncbigene:100128927 semapv:UnspecifiedMatching +OMIM:613916 deafness, autosomal recessive 89 skos:exactMatch MONDO:0013489 semapv:UnspecifiedMatching +OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:39755 semapv:UnspecifiedMatching +OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:MUC22 semapv:UnspecifiedMatching +OMIM:613917 MUC22 skos:exactMatch ncbigene:100507679 semapv:UnspecifiedMatching +OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:27780 semapv:UnspecifiedMatching +OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:HCG22 semapv:UnspecifiedMatching +OMIM:613918 HCG22 skos:exactMatch ncbigene:285834 semapv:UnspecifiedMatching +OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:21202 semapv:UnspecifiedMatching +OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:KIF6 semapv:UnspecifiedMatching +OMIM:613919 KIF6 skos:exactMatch ncbigene:221458 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch UMLS:C2240258 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch hgnc.symbol:33848 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch hgnc.symbol:COA5 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch ncbigene:493753 semapv:UnspecifiedMatching +OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:21773 semapv:UnspecifiedMatching +OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:LIPJ semapv:UnspecifiedMatching +OMIM:613921 LIPJ skos:exactMatch ncbigene:142910 semapv:UnspecifiedMatching +OMIM:613922 LIPK skos:exactMatch hgnc.symbol:23444 semapv:UnspecifiedMatching +OMIM:613922 LIPK skos:exactMatch hgnc.symbol:LIPK semapv:UnspecifiedMatching +OMIM:613922 LIPK skos:exactMatch ncbigene:643414 semapv:UnspecifiedMatching +OMIM:613923 LIPM skos:exactMatch hgnc.symbol:23455 semapv:UnspecifiedMatching +OMIM:613923 LIPM skos:exactMatch hgnc.symbol:LIPM semapv:UnspecifiedMatching +OMIM:613923 LIPM skos:exactMatch ncbigene:340654 semapv:UnspecifiedMatching +OMIM:613924 LIPN skos:exactMatch hgnc.symbol:23452 semapv:UnspecifiedMatching +OMIM:613924 LIPN skos:exactMatch hgnc.symbol:LIPN semapv:UnspecifiedMatching +OMIM:613924 LIPN skos:exactMatch ncbigene:643418 semapv:UnspecifiedMatching +OMIM:613925 megalencephalic leukoencephalopathy with subcortical cysts 2a skos:exactMatch MONDO:0013490 semapv:UnspecifiedMatching +OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development skos:exactMatch MONDO:0013491 semapv:UnspecifiedMatching +OMIM:613927 C2 skos:exactMatch hgnc.symbol:1248 semapv:UnspecifiedMatching +OMIM:613927 C2 skos:exactMatch hgnc.symbol:C2 semapv:UnspecifiedMatching +OMIM:613927 C2 skos:exactMatch ncbigene:717 semapv:UnspecifiedMatching +OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:21666 semapv:UnspecifiedMatching +OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:MUCL3 semapv:UnspecifiedMatching +OMIM:613928 MUCL3 skos:exactMatch ncbigene:135656 semapv:UnspecifiedMatching +OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:16646 semapv:UnspecifiedMatching +OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:SPINK4 semapv:UnspecifiedMatching +OMIM:613929 SPINK4 skos:exactMatch ncbigene:27290 semapv:UnspecifiedMatching +OMIM:613930 alopecia-intellectual disability syndrome 3 skos:exactMatch MONDO:0013492 semapv:UnspecifiedMatching +OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:15954 semapv:UnspecifiedMatching +OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:TOE1 semapv:UnspecifiedMatching +OMIM:613931 TOE1 skos:exactMatch ncbigene:114034 semapv:UnspecifiedMatching +OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:19661 semapv:UnspecifiedMatching +OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:TNNI3K semapv:UnspecifiedMatching +OMIM:613932 TNNI3K skos:exactMatch ncbigene:51086 semapv:UnspecifiedMatching +OMIM:613933 acetyl-coa carboxylase-alpha deficiency skos:exactMatch MONDO:0013493 semapv:UnspecifiedMatching +OMIM:613934 TMEM25 skos:exactMatch UMLS:C1539994 semapv:UnspecifiedMatching +OMIM:613934 TMEM25 skos:exactMatch hgnc.symbol:25890 semapv:UnspecifiedMatching +OMIM:613934 TMEM25 skos:exactMatch hgnc.symbol:TMEM25 semapv:UnspecifiedMatching +OMIM:613934 TMEM25 skos:exactMatch ncbigene:84866 semapv:UnspecifiedMatching +OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:26409 semapv:UnspecifiedMatching +OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:TMEM74 semapv:UnspecifiedMatching +OMIM:613935 TMEM74 skos:exactMatch ncbigene:157753 semapv:UnspecifiedMatching +OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:26722 semapv:UnspecifiedMatching +OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:TMEM102 semapv:UnspecifiedMatching +OMIM:613936 TMEM102 skos:exactMatch ncbigene:284114 semapv:UnspecifiedMatching +OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:25587 semapv:UnspecifiedMatching +OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:TMEM184C semapv:UnspecifiedMatching +OMIM:613937 TMEM184C skos:exactMatch ncbigene:55751 semapv:UnspecifiedMatching +OMIM:613938 parasomnia, sleepwalking iia skos:exactMatch MONDO:0100226 semapv:UnspecifiedMatching +OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:26125 semapv:UnspecifiedMatching +OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:SPATA20 semapv:UnspecifiedMatching +OMIM:613939 SPATA20 skos:exactMatch ncbigene:64847 semapv:UnspecifiedMatching +OMIM:613940 AFG2A skos:exactMatch hgnc.symbol:AFG2A semapv:UnspecifiedMatching +OMIM:613940 AFG2A skos:exactMatch ncbigene:166378 semapv:UnspecifiedMatching +OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:11248 semapv:UnspecifiedMatching +OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:SPINT3 semapv:UnspecifiedMatching +OMIM:613941 SPINT3 skos:exactMatch ncbigene:10816 semapv:UnspecifiedMatching +OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:16252 semapv:UnspecifiedMatching +OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:SUN5 semapv:UnspecifiedMatching +OMIM:613942 SUN5 skos:exactMatch ncbigene:140732 semapv:UnspecifiedMatching +OMIM:613943 ichthyosis, congenital, autosomal recessive 8 skos:exactMatch MONDO:0013495 semapv:UnspecifiedMatching +OMIM:613944 iga nephropathy, susceptibility to, 2 skos:exactMatch MONDO:0013496 semapv:UnspecifiedMatching +OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:24138 semapv:UnspecifiedMatching +OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:DNAJC5B semapv:UnspecifiedMatching +OMIM:613945 DNAJC5B skos:exactMatch ncbigene:85479 semapv:UnspecifiedMatching +OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:24844 semapv:UnspecifiedMatching +OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:DNAJC5G semapv:UnspecifiedMatching +OMIM:613946 DNAJC5G skos:exactMatch ncbigene:285126 semapv:UnspecifiedMatching +OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:18309 semapv:UnspecifiedMatching +OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:SPATA6 semapv:UnspecifiedMatching +OMIM:613947 SPATA6 skos:exactMatch ncbigene:54558 semapv:UnspecifiedMatching +OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:28676 semapv:UnspecifiedMatching +OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:SPATA8 semapv:UnspecifiedMatching +OMIM:613948 SPATA8 skos:exactMatch ncbigene:145946 semapv:UnspecifiedMatching +OMIM:613949 okt4 epitope deficiency skos:exactMatch MONDO:0013497 semapv:UnspecifiedMatching +OMIM:613950 schizophrenia 15 skos:exactMatch MONDO:0013498 semapv:UnspecifiedMatching +OMIM:613951 fanconi anemia, complementation group p skos:exactMatch MONDO:0013499 semapv:UnspecifiedMatching +OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:24712 semapv:UnspecifiedMatching +OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:TENT5C semapv:UnspecifiedMatching +OMIM:613952 TENT5C skos:exactMatch ncbigene:54855 semapv:UnspecifiedMatching +OMIM:613953 immunodeficiency 51 skos:exactMatch MONDO:0013500 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch MONDO:0013501 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching +OMIM:613955 amyloidosis, primary localized cutaneous, 2 skos:exactMatch MONDO:0013502 semapv:UnspecifiedMatching +OMIM:613956 candidiasis, familial, 6 skos:exactMatch MONDO:0013503 semapv:UnspecifiedMatching +OMIM:613957 spermatogenic failure 8 skos:exactMatch MONDO:0013504 semapv:UnspecifiedMatching +OMIM:613958 spermatogenic failure 9 skos:exactMatch MONDO:0013505 semapv:UnspecifiedMatching +OMIM:613959 schizophrenia 16 skos:exactMatch MONDO:0013506 semapv:UnspecifiedMatching +OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch MONDO:0013507 semapv:UnspecifiedMatching +OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching +OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:19108 semapv:UnspecifiedMatching +OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:TAS2R19 semapv:UnspecifiedMatching +OMIM:613961 TAS2R19 skos:exactMatch ncbigene:259294 semapv:UnspecifiedMatching +OMIM:613962 TAS2R20 skos:exactMatch hgnc.symbol:19109 semapv:UnspecifiedMatching +OMIM:613962 TAS2R20 skos:exactMatch hgnc.symbol:TAS2R20 semapv:UnspecifiedMatching +OMIM:613962 TAS2R20 skos:exactMatch ncbigene:259295 semapv:UnspecifiedMatching +OMIM:613963 TAS2R30 skos:exactMatch hgnc.symbol:19112 semapv:UnspecifiedMatching +OMIM:613963 TAS2R30 skos:exactMatch hgnc.symbol:TAS2R30 semapv:UnspecifiedMatching +OMIM:613963 TAS2R30 skos:exactMatch ncbigene:259293 semapv:UnspecifiedMatching +OMIM:613964 TAS2R40 skos:exactMatch hgnc.symbol:18885 semapv:UnspecifiedMatching +OMIM:613964 TAS2R40 skos:exactMatch hgnc.symbol:TAS2R40 semapv:UnspecifiedMatching +OMIM:613964 TAS2R40 skos:exactMatch ncbigene:259286 semapv:UnspecifiedMatching +OMIM:613965 TAS2R41 skos:exactMatch hgnc.symbol:18883 semapv:UnspecifiedMatching +OMIM:613965 TAS2R41 skos:exactMatch hgnc.symbol:TAS2R41 semapv:UnspecifiedMatching +OMIM:613965 TAS2R41 skos:exactMatch ncbigene:259287 semapv:UnspecifiedMatching +OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:18888 semapv:UnspecifiedMatching +OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:TAS2R42 semapv:UnspecifiedMatching +OMIM:613966 TAS2R42 skos:exactMatch ncbigene:353164 semapv:UnspecifiedMatching +OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:18876 semapv:UnspecifiedMatching +OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:TAS2R45 semapv:UnspecifiedMatching +OMIM:613967 TAS2R45 skos:exactMatch ncbigene:259291 semapv:UnspecifiedMatching +OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:20639 semapv:UnspecifiedMatching +OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:TAS2R60 semapv:UnspecifiedMatching +OMIM:613968 TAS2R60 skos:exactMatch ncbigene:338398 semapv:UnspecifiedMatching +OMIM:613969 myopia 19, autosomal dominant skos:exactMatch MONDO:0013508 semapv:UnspecifiedMatching +OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch MONDO:0013509 semapv:UnspecifiedMatching +OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching +OMIM:613972 melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch MONDO:0013510 semapv:UnspecifiedMatching +OMIM:613973 CGAS skos:exactMatch UMLS:C3147783 semapv:UnspecifiedMatching +OMIM:613973 CGAS skos:exactMatch hgnc.symbol:21367 semapv:UnspecifiedMatching +OMIM:613973 CGAS skos:exactMatch hgnc.symbol:CGAS semapv:UnspecifiedMatching +OMIM:613973 CGAS skos:exactMatch ncbigene:115004 semapv:UnspecifiedMatching +OMIM:613974 DDX60 skos:exactMatch UMLS:C2239342 semapv:UnspecifiedMatching +OMIM:613974 DDX60 skos:exactMatch hgnc.symbol:25942 semapv:UnspecifiedMatching +OMIM:613974 DDX60 skos:exactMatch hgnc.symbol:DDX60 semapv:UnspecifiedMatching +OMIM:613974 DDX60 skos:exactMatch ncbigene:55601 semapv:UnspecifiedMatching +OMIM:613975 IFI44L skos:exactMatch hgnc.symbol:17817 semapv:UnspecifiedMatching +OMIM:613975 IFI44L skos:exactMatch hgnc.symbol:IFI44L semapv:UnspecifiedMatching +OMIM:613975 IFI44L skos:exactMatch ncbigene:10964 semapv:UnspecifiedMatching +OMIM:613976 FANCE skos:exactMatch hgnc.symbol:3586 semapv:UnspecifiedMatching +OMIM:613976 FANCE skos:exactMatch hgnc.symbol:FANCE semapv:UnspecifiedMatching +OMIM:613976 FANCE skos:exactMatch ncbigene:2178 semapv:UnspecifiedMatching +OMIM:613977 cyanosis, transient neonatal skos:exactMatch MONDO:0013511 semapv:UnspecifiedMatching +OMIM:613978 hemoglobin h disease skos:exactMatch MONDO:0013512 semapv:UnspecifiedMatching +OMIM:613979 PRPF6 skos:exactMatch hgnc.symbol:15860 semapv:UnspecifiedMatching +OMIM:613979 PRPF6 skos:exactMatch hgnc.symbol:PRPF6 semapv:UnspecifiedMatching +OMIM:613979 PRPF6 skos:exactMatch ncbigene:24148 semapv:UnspecifiedMatching +OMIM:613980 atrial fibrillation, familial, 9 skos:exactMatch MONDO:0013513 semapv:UnspecifiedMatching +OMIM:613981 hypotrichosis 3 skos:exactMatch MONDO:0013514 semapv:UnspecifiedMatching +OMIM:613981 hypotrichosis 3 skos:exactMatch Orphanet:90368 semapv:UnspecifiedMatching +OMIM:613981 hypotrichosis 3 skos:exactMatch UMLS:C3151432 semapv:UnspecifiedMatching +OMIM:613982 osteogenesis imperfecta, iia 6 skos:exactMatch MONDO:0013515 semapv:UnspecifiedMatching +OMIM:613983 retinitis pigmentosa 60 skos:exactMatch MONDO:0013516 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch UMLS:C1414530 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch UMLS:C3160738 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:3585 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:FANCD2 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch ncbigene:2177 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch MONDO:0013517 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231214 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:848 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch UMLS:C0005283 semapv:UnspecifiedMatching +OMIM:613986 pituitary hormone deficiency, combined, 6 skos:exactMatch MONDO:0013518 semapv:UnspecifiedMatching +OMIM:613987 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch MONDO:0013519 semapv:UnspecifiedMatching +OMIM:613988 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch MONDO:0013520 semapv:UnspecifiedMatching +OMIM:613989 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch MONDO:0013521 semapv:UnspecifiedMatching +OMIM:613990 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch MONDO:0013522 semapv:UnspecifiedMatching +OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:29829 semapv:UnspecifiedMatching +OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:CDC42BPG semapv:UnspecifiedMatching +OMIM:613991 CDC42BPG skos:exactMatch ncbigene:55561 semapv:UnspecifiedMatching +OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:23732 semapv:UnspecifiedMatching +OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:PPP2R2D semapv:UnspecifiedMatching +OMIM:613992 PPP2R2D skos:exactMatch ncbigene:55844 semapv:UnspecifiedMatching +OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:21719 semapv:UnspecifiedMatching +OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:MYL7 semapv:UnspecifiedMatching +OMIM:613993 MYL7 skos:exactMatch ncbigene:58498 semapv:UnspecifiedMatching +OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:26550 semapv:UnspecifiedMatching +OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:NBPF4 semapv:UnspecifiedMatching +OMIM:613994 NBPF4 skos:exactMatch ncbigene:148545 semapv:UnspecifiedMatching +OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:24491 semapv:UnspecifiedMatching +OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:NBPF5P semapv:UnspecifiedMatching +OMIM:613995 NBPF5 skos:exactMatch ncbigene:100507044 semapv:UnspecifiedMatching +OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:31988 semapv:UnspecifiedMatching +OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:NBPF6 semapv:UnspecifiedMatching +OMIM:613996 NBPF6 skos:exactMatch ncbigene:653149 semapv:UnspecifiedMatching +OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:31989 semapv:UnspecifiedMatching +OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:NBPF7P semapv:UnspecifiedMatching +OMIM:613997 NBPF7 skos:exactMatch ncbigene:343505 semapv:UnspecifiedMatching +OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:31990 semapv:UnspecifiedMatching +OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:NBPF8 semapv:UnspecifiedMatching +OMIM:613998 NBPF8 skos:exactMatch ncbigene:728841 semapv:UnspecifiedMatching +OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:31991 semapv:UnspecifiedMatching +OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:NBPF9 semapv:UnspecifiedMatching +OMIM:613999 NBPF9 skos:exactMatch ncbigene:400818 semapv:UnspecifiedMatching +OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:31992 semapv:UnspecifiedMatching +OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:NBPF10 semapv:UnspecifiedMatching +OMIM:614000 NBPF10 skos:exactMatch ncbigene:100132406 semapv:UnspecifiedMatching +OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:31993 semapv:UnspecifiedMatching +OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:NBPF11 semapv:UnspecifiedMatching +OMIM:614001 NBPF11 skos:exactMatch ncbigene:200030 semapv:UnspecifiedMatching +OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:25232 semapv:UnspecifiedMatching +OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:NBPF14 semapv:UnspecifiedMatching +OMIM:614003 NBPF14 skos:exactMatch ncbigene:25832 semapv:UnspecifiedMatching +OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:31999 semapv:UnspecifiedMatching +OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:NBPF19 semapv:UnspecifiedMatching +OMIM:614006 NBPF19 skos:exactMatch ncbigene:101060226 semapv:UnspecifiedMatching +OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:32000 semapv:UnspecifiedMatching +OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:NBPF20 semapv:UnspecifiedMatching +OMIM:614007 NBPF20 skos:exactMatch ncbigene:100288142 semapv:UnspecifiedMatching +OMIM:614008 nestor-guillermo progeria syndrome skos:exactMatch MONDO:0013523 semapv:UnspecifiedMatching +OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to skos:exactMatch MONDO:0800447 semapv:UnspecifiedMatching +OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:26019 semapv:UnspecifiedMatching +OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:BPNT2 semapv:UnspecifiedMatching +OMIM:614010 IMPAD1 skos:exactMatch ncbigene:54928 semapv:UnspecifiedMatching +OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:13756 semapv:UnspecifiedMatching +OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:ERVK-4 semapv:UnspecifiedMatching +OMIM:614011 ERVK-4 skos:exactMatch ncbigene:60359 semapv:UnspecifiedMatching +OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:13757 semapv:UnspecifiedMatching +OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:ERVK-5 semapv:UnspecifiedMatching +OMIM:614012 ERVK-5 skos:exactMatch ncbigene:60358 semapv:UnspecifiedMatching +OMIM:614013 ERVK-7 skos:exactMatch hgnc.symbol:31828 semapv:UnspecifiedMatching +OMIM:614013 ERVK-7 skos:exactMatch hgnc.symbol:ERVK-7 semapv:UnspecifiedMatching +OMIM:614013 ERVK-7 skos:exactMatch ncbigene:449619 semapv:UnspecifiedMatching +OMIM:614014 RNASE9 skos:exactMatch hgnc.symbol:20673 semapv:UnspecifiedMatching +OMIM:614014 RNASE9 skos:exactMatch hgnc.symbol:RNASE9 semapv:UnspecifiedMatching +OMIM:614014 RNASE9 skos:exactMatch ncbigene:390443 semapv:UnspecifiedMatching +OMIM:614015 DAGLA skos:exactMatch hgnc.symbol:1165 semapv:UnspecifiedMatching +OMIM:614015 DAGLA skos:exactMatch hgnc.symbol:DAGLA semapv:UnspecifiedMatching +OMIM:614015 DAGLA skos:exactMatch ncbigene:747 semapv:UnspecifiedMatching +OMIM:614016 DAGLB skos:exactMatch hgnc.symbol:28923 semapv:UnspecifiedMatching +OMIM:614016 DAGLB skos:exactMatch hgnc.symbol:DAGLB semapv:UnspecifiedMatching +OMIM:614016 DAGLB skos:exactMatch ncbigene:221955 semapv:UnspecifiedMatching +OMIM:614017 ciliary dyskinesia, primary, 16 skos:exactMatch MONDO:0013525 semapv:UnspecifiedMatching +OMIM:614018 epilepsy, progressive myoclonic, 6 skos:exactMatch MONDO:0013526 semapv:UnspecifiedMatching +OMIM:614019 lissencephaly 4 skos:exactMatch MONDO:0013527 semapv:UnspecifiedMatching +OMIM:614019 lissencephaly 4 skos:exactMatch Orphanet:1083 semapv:UnspecifiedMatching +OMIM:614019 lissencephaly 4 skos:exactMatch UMLS:C3151461 semapv:UnspecifiedMatching +OMIM:614020 intellectual developmental disorder, autosomal recessive 14 skos:exactMatch MONDO:0013528 semapv:UnspecifiedMatching +OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch MONDO:0013529 semapv:UnspecifiedMatching +OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching +OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching +OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch MONDO:0013530 semapv:UnspecifiedMatching +OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch Orphanet:334 semapv:UnspecifiedMatching +OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching +OMIM:614023 phosphoserine phosphatase deficiency skos:exactMatch MONDO:0013531 semapv:UnspecifiedMatching +OMIM:614024 protein z deficiency skos:exactMatch MONDO:0013532 semapv:UnspecifiedMatching +OMIM:614025 hepatic lipase deficiency skos:exactMatch MONDO:0013533 semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch UMLS:C1825708 semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch hgnc.symbol:25484 semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch hgnc.symbol:KIF26B semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch ncbigene:55083 semapv:UnspecifiedMatching +OMIM:614027 INSM2 skos:exactMatch hgnc.symbol:17539 semapv:UnspecifiedMatching +OMIM:614027 INSM2 skos:exactMatch hgnc.symbol:INSM2 semapv:UnspecifiedMatching +OMIM:614027 INSM2 skos:exactMatch ncbigene:84684 semapv:UnspecifiedMatching +OMIM:614028 apolipoprotein c-iii deficiency skos:exactMatch MONDO:0013534 semapv:UnspecifiedMatching +OMIM:614029 SPDYA skos:exactMatch hgnc.symbol:30613 semapv:UnspecifiedMatching +OMIM:614029 SPDYA skos:exactMatch hgnc.symbol:SPDYA semapv:UnspecifiedMatching +OMIM:614029 SPDYA skos:exactMatch ncbigene:245711 semapv:UnspecifiedMatching +OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:32681 semapv:UnspecifiedMatching +OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:SPDYC semapv:UnspecifiedMatching +OMIM:614030 SPDYC skos:exactMatch ncbigene:387778 semapv:UnspecifiedMatching +OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:29285 semapv:UnspecifiedMatching +OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:RANBP10 semapv:UnspecifiedMatching +OMIM:614031 RANBP10 skos:exactMatch ncbigene:57610 semapv:UnspecifiedMatching +OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:20161 semapv:UnspecifiedMatching +OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:TOX4 semapv:UnspecifiedMatching +OMIM:614032 TOX4 skos:exactMatch ncbigene:9878 semapv:UnspecifiedMatching +OMIM:614033 hydroxyacyl glutathione hydrolase deficiency skos:exactMatch MONDO:0013535 semapv:UnspecifiedMatching +OMIM:614034 heme oxygenase 1 deficiency skos:exactMatch MONDO:0013536 semapv:UnspecifiedMatching +OMIM:614035 deafness, autosomal recessive 29 skos:exactMatch MONDO:0013537 semapv:UnspecifiedMatching +OMIM:614036 alpha-2-macroglobulin deficiency skos:exactMatch MONDO:0013538 semapv:UnspecifiedMatching +OMIM:614037 leukotriene c4 synthase deficiency skos:exactMatch MONDO:0013539 semapv:UnspecifiedMatching +OMIM:614038 lymphedema, primary, with myelodysplasia skos:exactMatch MONDO:0013540 semapv:UnspecifiedMatching +OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 skos:exactMatch MONDO:0013541 semapv:UnspecifiedMatching +OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:23154 semapv:UnspecifiedMatching +OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:ZNF467 semapv:UnspecifiedMatching +OMIM:614040 ZNF467 skos:exactMatch ncbigene:168544 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C0035335 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C0694889 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C4017354 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch UMLS:C4017355 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch hgnc.symbol:9884 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch hgnc.symbol:RB1 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch ncbigene:5925 semapv:UnspecifiedMatching +OMIM:614042 moyamoya disease 5 skos:exactMatch MONDO:0013542 semapv:UnspecifiedMatching +OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:6703 semapv:UnspecifiedMatching +OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:LRRFIP2 semapv:UnspecifiedMatching +OMIM:614043 LRRFIP2 skos:exactMatch ncbigene:9209 semapv:UnspecifiedMatching +OMIM:614044 trypsinogen deficiency skos:exactMatch MONDO:0013543 semapv:UnspecifiedMatching +OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:25282 semapv:UnspecifiedMatching +OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:NIBAN2 semapv:UnspecifiedMatching +OMIM:614045 FAM129B skos:exactMatch ncbigene:64855 semapv:UnspecifiedMatching +OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:25482 semapv:UnspecifiedMatching +OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:ARGLU1 semapv:UnspecifiedMatching +OMIM:614046 ARGLU1 skos:exactMatch ncbigene:55082 semapv:UnspecifiedMatching +OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:31865 semapv:UnspecifiedMatching +OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:MTHFD2L semapv:UnspecifiedMatching +OMIM:614047 MTHFD2L skos:exactMatch ncbigene:441024 semapv:UnspecifiedMatching +OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:21945 semapv:UnspecifiedMatching +OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:ELAPOR2 semapv:UnspecifiedMatching +OMIM:614048 ELAPOR2 skos:exactMatch ncbigene:222223 semapv:UnspecifiedMatching +OMIM:614049 atrial fibrillation, familial, 11 skos:exactMatch MONDO:0013544 semapv:UnspecifiedMatching +OMIM:614050 atrial fibrillation, familial, 12 skos:exactMatch MONDO:0013545 semapv:UnspecifiedMatching +OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch MONDO:0013546 semapv:UnspecifiedMatching +OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch Orphanet:1194 semapv:UnspecifiedMatching +OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching +OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch MONDO:0013547 semapv:UnspecifiedMatching +OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching +OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch UMLS:C1825155 semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:29228 semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:RIMKLB semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch ncbigene:57494 semapv:UnspecifiedMatching +OMIM:614055 acetyl-coa acetyltransferase-2 deficiency skos:exactMatch MONDO:0013548 semapv:UnspecifiedMatching +OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:29089 semapv:UnspecifiedMatching +OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:PPP1R26 semapv:UnspecifiedMatching +OMIM:614056 PPP1R26 skos:exactMatch ncbigene:9858 semapv:UnspecifiedMatching +OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:32055 semapv:UnspecifiedMatching +OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:MIR409 semapv:UnspecifiedMatching +OMIM:614057 MIR409 skos:exactMatch ncbigene:574413 semapv:UnspecifiedMatching +OMIM:614058 KHK skos:exactMatch hgnc.symbol:6315 semapv:UnspecifiedMatching +OMIM:614058 KHK skos:exactMatch hgnc.symbol:KHK semapv:UnspecifiedMatching +OMIM:614058 KHK skos:exactMatch ncbigene:3795 semapv:UnspecifiedMatching +OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:31775 semapv:UnspecifiedMatching +OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:MIR338 semapv:UnspecifiedMatching +OMIM:614059 MIR338 skos:exactMatch ncbigene:442906 semapv:UnspecifiedMatching +OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:37461 semapv:UnspecifiedMatching +OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:HOTTIP semapv:UnspecifiedMatching +OMIM:614060 HOTTIP skos:exactMatch ncbigene:100316868 semapv:UnspecifiedMatching +OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:17190 semapv:UnspecifiedMatching +OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:OLFM4 semapv:UnspecifiedMatching +OMIM:614061 OLFM4 skos:exactMatch ncbigene:10562 semapv:UnspecifiedMatching +OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:1738 semapv:UnspecifiedMatching +OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:CDC42BPB semapv:UnspecifiedMatching +OMIM:614062 CDC42BPB skos:exactMatch ncbigene:9578 semapv:UnspecifiedMatching +OMIM:614063 n-acetylaspartate deficiency skos:exactMatch MONDO:0013549 semapv:UnspecifiedMatching +OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:21143 semapv:UnspecifiedMatching +OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:ZBTB24 semapv:UnspecifiedMatching +OMIM:614064 ZBTB24 skos:exactMatch ncbigene:9841 semapv:UnspecifiedMatching +OMIM:614065 myopathy, distal, 4 skos:exactMatch MONDO:0013550 semapv:UnspecifiedMatching +OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch MONDO:0013551 semapv:UnspecifiedMatching +OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching +OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch UMLS:C3279738 semapv:UnspecifiedMatching +OMIM:614067 spastic paraplegia 52, autosomal recessive skos:exactMatch MONDO:0013552 semapv:UnspecifiedMatching +OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:29669 semapv:UnspecifiedMatching +OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:IFT43 semapv:UnspecifiedMatching +OMIM:614068 IFT43 skos:exactMatch ncbigene:112752 semapv:UnspecifiedMatching +OMIM:614069 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch MONDO:0013553 semapv:UnspecifiedMatching +OMIM:614070 psoriasis 13, susceptibility to skos:exactMatch MONDO:0013554 semapv:UnspecifiedMatching +OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:43444 semapv:UnspecifiedMatching +OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:MYZAP semapv:UnspecifiedMatching +OMIM:614071 MYZAP skos:exactMatch ncbigene:100820829 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch MONDO:0013555 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch MONDO:0013556 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch MONDO:0013557 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch MONDO:0013558 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching +OMIM:614076 hermansky-pudlak syndrome 7 skos:exactMatch MONDO:0013559 semapv:UnspecifiedMatching +OMIM:614077 hermansky-pudlak syndrome 8 skos:exactMatch MONDO:0013560 semapv:UnspecifiedMatching +OMIM:614078 chondrodysplasia with joint dislocations, gpapp iia skos:exactMatch MONDO:0013561 semapv:UnspecifiedMatching +OMIM:614079 aspergillosis, susceptibility to skos:exactMatch MONDO:0013562 semapv:UnspecifiedMatching +OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch MONDO:0013563 semapv:UnspecifiedMatching +OMIM:614081 anhaptoglobinemia skos:exactMatch MONDO:0013564 semapv:UnspecifiedMatching +OMIM:614082 fanconi anemia, complementation group g skos:exactMatch MONDO:0013565 semapv:UnspecifiedMatching +OMIM:614083 fanconi anemia, complementation group 50 skos:exactMatch MONDO:0013566 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch UMLS:C1538106 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:19684 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:WEE2 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch ncbigene:494551 semapv:UnspecifiedMatching +OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:28206 semapv:UnspecifiedMatching +OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:RHNO1 semapv:UnspecifiedMatching +OMIM:614085 RHNO1 skos:exactMatch ncbigene:83695 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch UMLS:C3463911 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch UMLS:C5231464 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:40050 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:MCIDAS semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch ncbigene:345643 semapv:UnspecifiedMatching +OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:5347 semapv:UnspecifiedMatching +OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:ICAM4 semapv:UnspecifiedMatching +OMIM:614088 ICAM4 skos:exactMatch ncbigene:3386 semapv:UnspecifiedMatching +OMIM:614089 atrial septal defect 3 skos:exactMatch MONDO:0013567 semapv:UnspecifiedMatching +OMIM:614090 sick sinus syndrome 3, susceptibility to skos:exactMatch MONDO:0013568 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch MONDO:0013569 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C3279792 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching +OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:26814 semapv:UnspecifiedMatching +OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:RILPL1 semapv:UnspecifiedMatching +OMIM:614092 RILPL1 skos:exactMatch ncbigene:353116 semapv:UnspecifiedMatching +OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:28787 semapv:UnspecifiedMatching +OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:RILPL2 semapv:UnspecifiedMatching +OMIM:614093 RILPL2 skos:exactMatch ncbigene:196383 semapv:UnspecifiedMatching +OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:30525 semapv:UnspecifiedMatching +OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:MARVELD3 semapv:UnspecifiedMatching +OMIM:614094 MARVELD3 skos:exactMatch ncbigene:91862 semapv:UnspecifiedMatching +OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:8725 semapv:UnspecifiedMatching +OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:PCK2 semapv:UnspecifiedMatching +OMIM:614095 PCK2 skos:exactMatch ncbigene:5106 semapv:UnspecifiedMatching +OMIM:614096 combined oxidative phosphorylation deficiency 8 skos:exactMatch MONDO:0013570 semapv:UnspecifiedMatching +OMIM:614097 acatalasemia skos:exactMatch MONDO:0013571 semapv:UnspecifiedMatching +OMIM:614098 keppen-lubinsky syndrome skos:exactMatch MONDO:0013572 semapv:UnspecifiedMatching +OMIM:614099 cranioectodermal dysplasia 3 skos:exactMatch MONDO:0013573 semapv:UnspecifiedMatching +OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype skos:exactMatch MONDO:0013574 semapv:UnspecifiedMatching +OMIM:614101 plasma fibronectin deficiency skos:exactMatch MONDO:0013575 semapv:UnspecifiedMatching +OMIM:614102 immunoglobulin kappa light chain deficiency skos:exactMatch MONDO:0013576 semapv:UnspecifiedMatching +OMIM:614103 lipedema skos:exactMatch MONDO:0013577 semapv:UnspecifiedMatching +OMIM:614104 intellectual developmental disorder, autosomal dominant 7 skos:exactMatch MONDO:0013578 semapv:UnspecifiedMatching +OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0013579 semapv:UnspecifiedMatching +OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 semapv:UnspecifiedMatching +OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching +OMIM:614106 MLIP skos:exactMatch hgnc.symbol:21355 semapv:UnspecifiedMatching +OMIM:614106 MLIP skos:exactMatch hgnc.symbol:MLIP semapv:UnspecifiedMatching +OMIM:614106 MLIP skos:exactMatch ncbigene:90523 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch UMLS:C2681636 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:21839 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:KPNA7 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch ncbigene:402569 semapv:UnspecifiedMatching +OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:16177 semapv:UnspecifiedMatching +OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:BPIFB2 semapv:UnspecifiedMatching +OMIM:614108 BPIFB2 skos:exactMatch ncbigene:80341 semapv:UnspecifiedMatching +OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:16503 semapv:UnspecifiedMatching +OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:BPIFC semapv:UnspecifiedMatching +OMIM:614109 BPIFC skos:exactMatch ncbigene:254240 semapv:UnspecifiedMatching +OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:16504 semapv:UnspecifiedMatching +OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:BPIFB6 semapv:UnspecifiedMatching +OMIM:614110 BPIFB6 skos:exactMatch ncbigene:128859 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch MONDO:0013580 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:255138 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching +OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:31632 semapv:UnspecifiedMatching +OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:MIR320A semapv:UnspecifiedMatching +OMIM:614112 MIR320A skos:exactMatch ncbigene:407037 semapv:UnspecifiedMatching +OMIM:614113 intellectual developmental disorder, autosomal dominant 2 skos:exactMatch MONDO:0013581 semapv:UnspecifiedMatching +OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch MONDO:0013582 semapv:UnspecifiedMatching +OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching +OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch UMLS:C3279843 semapv:UnspecifiedMatching +OMIM:614115 cortical malformations, occipital skos:exactMatch MONDO:0013583 semapv:UnspecifiedMatching +OMIM:614116 neuropathy, hereditary sensory, iia 1e skos:exactMatch MONDO:0013584 semapv:UnspecifiedMatching +OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:27540 semapv:UnspecifiedMatching +OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:EXOC3L1 semapv:UnspecifiedMatching +OMIM:614117 EXOC3L1 skos:exactMatch ncbigene:283849 semapv:UnspecifiedMatching +OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:13010 semapv:UnspecifiedMatching +OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:TSHZ2 semapv:UnspecifiedMatching +OMIM:614118 TSHZ2 skos:exactMatch ncbigene:128553 semapv:UnspecifiedMatching +OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:30700 semapv:UnspecifiedMatching +OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:TSHZ3 semapv:UnspecifiedMatching +OMIM:614119 TSHZ3 skos:exactMatch ncbigene:57616 semapv:UnspecifiedMatching +OMIM:614120 hydrolethalus syndrome 2 skos:exactMatch MONDO:0013585 semapv:UnspecifiedMatching +OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:26776 semapv:UnspecifiedMatching +OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:TENT2 semapv:UnspecifiedMatching +OMIM:614121 TENT2 skos:exactMatch ncbigene:167153 semapv:UnspecifiedMatching +OMIM:614122 chitotriosidase deficiency skos:exactMatch MONDO:0013586 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch UMLS:C1823293 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:18188 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:TMCO1 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch ncbigene:54499 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch UMLS:C2829540 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:26957 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:GPCPD1 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch ncbigene:56261 semapv:UnspecifiedMatching +OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:19200 semapv:UnspecifiedMatching +OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:DPPA4 semapv:UnspecifiedMatching +OMIM:614125 DPPA4 skos:exactMatch ncbigene:55211 semapv:UnspecifiedMatching +OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:26189 semapv:UnspecifiedMatching +OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:MTARC1 semapv:UnspecifiedMatching +OMIM:614126 MTARC1 skos:exactMatch ncbigene:64757 semapv:UnspecifiedMatching +OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:26064 semapv:UnspecifiedMatching +OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:MTARC2 semapv:UnspecifiedMatching +OMIM:614127 MTARC2 skos:exactMatch ncbigene:54996 semapv:UnspecifiedMatching +OMIM:614128 lactate dehydrogenase B deficiency skos:exactMatch MONDO:0013587 semapv:UnspecifiedMatching +OMIM:614129 perrault syndrome 3 skos:exactMatch MONDO:0013588 semapv:UnspecifiedMatching +OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:30713 semapv:UnspecifiedMatching +OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:ADAD1 semapv:UnspecifiedMatching +OMIM:614130 ADAD1 skos:exactMatch ncbigene:132612 semapv:UnspecifiedMatching +OMIM:614131 focal segmental glomerulosclerosis 6 skos:exactMatch MONDO:0013589 semapv:UnspecifiedMatching +OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:27364 semapv:UnspecifiedMatching +OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:HEPACAM2 semapv:UnspecifiedMatching +OMIM:614133 HEPACAM2 skos:exactMatch ncbigene:253012 semapv:UnspecifiedMatching +OMIM:614134 stickler syndrome, iia 4 skos:exactMatch MONDO:0013590 semapv:UnspecifiedMatching +OMIM:614135 epiphyseal dysplasia, multiple, 6 skos:exactMatch MONDO:0013591 semapv:UnspecifiedMatching +OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:29169 semapv:UnspecifiedMatching +OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:TRAPPC8 semapv:UnspecifiedMatching +OMIM:614136 TRAPPC8 skos:exactMatch ncbigene:22878 semapv:UnspecifiedMatching +OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:21090 semapv:UnspecifiedMatching +OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:TRAPPC3L semapv:UnspecifiedMatching +OMIM:614137 TRAPPC3L skos:exactMatch ncbigene:100128327 semapv:UnspecifiedMatching +OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:25751 semapv:UnspecifiedMatching +OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:TRAPPC11 semapv:UnspecifiedMatching +OMIM:614138 TRAPPC11 skos:exactMatch ncbigene:60684 semapv:UnspecifiedMatching +OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:24284 semapv:UnspecifiedMatching +OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:TRAPPC12 semapv:UnspecifiedMatching +OMIM:614139 TRAPPC12 skos:exactMatch ncbigene:51112 semapv:UnspecifiedMatching +OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:29022 semapv:UnspecifiedMatching +OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:SPECC1L semapv:UnspecifiedMatching +OMIM:614140 SPECC1L skos:exactMatch ncbigene:23384 semapv:UnspecifiedMatching +OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:15974 semapv:UnspecifiedMatching +OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:TRIM2 semapv:UnspecifiedMatching +OMIM:614141 TRIM2 skos:exactMatch ncbigene:23321 semapv:UnspecifiedMatching +OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:28352 semapv:UnspecifiedMatching +OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:CUEDC2 semapv:UnspecifiedMatching +OMIM:614142 CUEDC2 skos:exactMatch ncbigene:79004 semapv:UnspecifiedMatching +OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:23620 semapv:UnspecifiedMatching +OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:IGFLR1 semapv:UnspecifiedMatching +OMIM:614143 IGFLR1 skos:exactMatch ncbigene:79713 semapv:UnspecifiedMatching +OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:24123 semapv:UnspecifiedMatching +OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:B9D1 semapv:UnspecifiedMatching +OMIM:614144 B9D1 skos:exactMatch ncbigene:27077 semapv:UnspecifiedMatching +OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:25367 semapv:UnspecifiedMatching +OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:CCDC8 semapv:UnspecifiedMatching +OMIM:614145 CCDC8 skos:exactMatch ncbigene:83987 semapv:UnspecifiedMatching +OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:17721 semapv:UnspecifiedMatching +OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:DNAAF9 semapv:UnspecifiedMatching +OMIM:614146 DNAAF9 skos:exactMatch ncbigene:25943 semapv:UnspecifiedMatching +OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:31374 semapv:UnspecifiedMatching +OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:C1QTNF8 semapv:UnspecifiedMatching +OMIM:614147 C1QTNF8 skos:exactMatch ncbigene:390664 semapv:UnspecifiedMatching +OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:34072 semapv:UnspecifiedMatching +OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:C1QTNF9B semapv:UnspecifiedMatching +OMIM:614148 C1QTNF9B skos:exactMatch ncbigene:387911 semapv:UnspecifiedMatching +OMIM:614149 nail disorder, nonsyndromic congenital, 9 skos:exactMatch MONDO:0013592 semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch UMLS:C2828534 semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:25123 semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:PKDCC semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch ncbigene:91461 semapv:UnspecifiedMatching +OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:25539 semapv:UnspecifiedMatching +OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:RFWD3 semapv:UnspecifiedMatching +OMIM:614151 RFWD3 skos:exactMatch ncbigene:55159 semapv:UnspecifiedMatching +OMIM:614152 deafness, autosomal dominant 64 skos:exactMatch MONDO:0013593 semapv:UnspecifiedMatching +OMIM:614153 spinocerebellar ataxia 36 skos:exactMatch MONDO:0013594 semapv:UnspecifiedMatching +OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:15911 semapv:UnspecifiedMatching +OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:NOP56 semapv:UnspecifiedMatching +OMIM:614154 NOP56 skos:exactMatch ncbigene:10528 semapv:UnspecifiedMatching +OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:35364 semapv:UnspecifiedMatching +OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:MIR1292 semapv:UnspecifiedMatching +OMIM:614155 MIR1292 skos:exactMatch ncbigene:100302138 semapv:UnspecifiedMatching +OMIM:614156 hyperbiliverdinemia skos:exactMatch MONDO:0013595 semapv:UnspecifiedMatching +OMIM:614157 skos:exactMatch MONDO:0013596 semapv:UnspecifiedMatching +OMIM:614158 bleeding disorder, platelet-type, 14 skos:exactMatch MONDO:0013597 semapv:UnspecifiedMatching +OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:29222 semapv:UnspecifiedMatching +OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:ZNF644 semapv:UnspecifiedMatching +OMIM:614159 ZNF644 skos:exactMatch ncbigene:84146 semapv:UnspecifiedMatching +OMIM:614160 muscle hypertrophy skos:exactMatch MONDO:0013598 semapv:UnspecifiedMatching +OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:9349 semapv:UnspecifiedMatching +OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:PRDM5 semapv:UnspecifiedMatching +OMIM:614161 PRDM5 skos:exactMatch ncbigene:11107 semapv:UnspecifiedMatching +OMIM:614162 immunodeficiency 31c skos:exactMatch MONDO:0013599 semapv:UnspecifiedMatching +OMIM:614162 immunodeficiency 31c skos:exactMatch Orphanet:391487 semapv:UnspecifiedMatching +OMIM:614162 immunodeficiency 31c skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching +OMIM:614163 delayed sleep phase disorder, susceptibility to skos:exactMatch MONDO:0800001 semapv:UnspecifiedMatching +OMIM:614164 glutathione peroxidase deficiency skos:exactMatch MONDO:0013601 semapv:UnspecifiedMatching +OMIM:614165 pheochromocytoma/paraganglioma syndrome 5 skos:exactMatch MONDO:0013602 semapv:UnspecifiedMatching +OMIM:614166 myopia 20, autosomal dominant skos:exactMatch MONDO:0013603 semapv:UnspecifiedMatching +OMIM:614167 myopia 21, autosomal dominant skos:exactMatch MONDO:0013604 semapv:UnspecifiedMatching +OMIM:614167 myopia 21, autosomal dominant skos:exactMatch UMLS:C3279997 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch UMLS:C0268194 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch UMLS:C1418371 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:8724 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:PCK1 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch ncbigene:5105 semapv:UnspecifiedMatching +OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:31928 semapv:UnspecifiedMatching +OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:NBEAL2 semapv:UnspecifiedMatching +OMIM:614169 NBEAL2 skos:exactMatch ncbigene:23218 semapv:UnspecifiedMatching +OMIM:614170 brittle cornea syndrome 2 skos:exactMatch MONDO:0013605 semapv:UnspecifiedMatching +OMIM:614171 hermansky-pudlak syndrome 9 skos:exactMatch MONDO:0013606 semapv:UnspecifiedMatching +OMIM:614172 immunodeficiency 21 skos:exactMatch MONDO:0013607 semapv:UnspecifiedMatching +OMIM:614173 joubert syndrome 13 skos:exactMatch MONDO:0013608 semapv:UnspecifiedMatching +OMIM:614174 MEIG1 skos:exactMatch UMLS:C1537684 semapv:UnspecifiedMatching +OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:23429 semapv:UnspecifiedMatching +OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:MEIG1 semapv:UnspecifiedMatching +OMIM:614174 MEIG1 skos:exactMatch ncbigene:644890 semapv:UnspecifiedMatching +OMIM:614175 meckel syndrome, iia 10 skos:exactMatch MONDO:0013609 semapv:UnspecifiedMatching +OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:29334 semapv:UnspecifiedMatching +OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:ZFYVE28 semapv:UnspecifiedMatching +OMIM:614176 ZFYVE28 skos:exactMatch ncbigene:57732 semapv:UnspecifiedMatching +OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:28703 semapv:UnspecifiedMatching +OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:CRACR2B semapv:UnspecifiedMatching +OMIM:614177 EFCAB4A skos:exactMatch ncbigene:283229 semapv:UnspecifiedMatching +OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:28657 semapv:UnspecifiedMatching +OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:CRACR2A semapv:UnspecifiedMatching +OMIM:614178 CRACR2A skos:exactMatch ncbigene:84766 semapv:UnspecifiedMatching +OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:29286 semapv:UnspecifiedMatching +OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:ISLR2 semapv:UnspecifiedMatching +OMIM:614179 ISLR2 skos:exactMatch ncbigene:57611 semapv:UnspecifiedMatching +OMIM:614180 retinitis pigmentosa 61 skos:exactMatch MONDO:0013610 semapv:UnspecifiedMatching +OMIM:614181 retinitis pigmentosa 62 skos:exactMatch MONDO:0013611 semapv:UnspecifiedMatching +OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:29227 semapv:UnspecifiedMatching +OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:HEG1 semapv:UnspecifiedMatching +OMIM:614182 HEG1 skos:exactMatch ncbigene:57493 semapv:UnspecifiedMatching +OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:28698 semapv:UnspecifiedMatching +OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:DIS3L semapv:UnspecifiedMatching +OMIM:614183 DIS3L skos:exactMatch ncbigene:115752 semapv:UnspecifiedMatching +OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:28648 semapv:UnspecifiedMatching +OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:DIS3L2 semapv:UnspecifiedMatching +OMIM:614184 DIS3L2 skos:exactMatch ncbigene:129563 semapv:UnspecifiedMatching +OMIM:614185 geleophysic dysplasia 2 skos:exactMatch MONDO:0013612 semapv:UnspecifiedMatching +OMIM:614186 leber congenital amaurosis 16 skos:exactMatch MONDO:0013613 semapv:UnspecifiedMatching +OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness skos:exactMatch MONDO:0013614 semapv:UnspecifiedMatching +OMIM:614188 craniosynostosis and dental anomalies skos:exactMatch MONDO:0013615 semapv:UnspecifiedMatching +OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:31668 semapv:UnspecifiedMatching +OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:GOLGA7B semapv:UnspecifiedMatching +OMIM:614189 GOLGA7B skos:exactMatch ncbigene:401647 semapv:UnspecifiedMatching +OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch MONDO:0013616 semapv:UnspecifiedMatching +OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:18423 semapv:UnspecifiedMatching +OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:DEPDC5 semapv:UnspecifiedMatching +OMIM:614191 DEPDC5 skos:exactMatch ncbigene:9681 semapv:UnspecifiedMatching +OMIM:614192 skos:exactMatch MONDO:0013617 semapv:UnspecifiedMatching +OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:19189 semapv:UnspecifiedMatching +OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:DOCK6 semapv:UnspecifiedMatching +OMIM:614194 DOCK6 skos:exactMatch ncbigene:57572 semapv:UnspecifiedMatching +OMIM:614195 craniofacial anomalies and anterior segment dysgenesis syndrome skos:exactMatch MONDO:0013618 semapv:UnspecifiedMatching +OMIM:614196 nephrotic syndrome, iia 6 skos:exactMatch MONDO:0013619 semapv:UnspecifiedMatching +OMIM:614197 MCU skos:exactMatch hgnc.symbol:23526 semapv:UnspecifiedMatching +OMIM:614197 MCU skos:exactMatch hgnc.symbol:MCU semapv:UnspecifiedMatching +OMIM:614197 MCU skos:exactMatch ncbigene:90550 semapv:UnspecifiedMatching +OMIM:614198 myasthenic syndrome, congenital, 16 skos:exactMatch MONDO:0013620 semapv:UnspecifiedMatching +OMIM:614199 nephrotic syndrome, iia 5, with or without ocular abnormalities skos:exactMatch MONDO:0013621 semapv:UnspecifiedMatching +OMIM:614200 bleeding disorder, platelet-type, 9 skos:exactMatch MONDO:0013622 semapv:UnspecifiedMatching +OMIM:614201 bleeding disorder, platelet-type, 11 skos:exactMatch MONDO:0013623 semapv:UnspecifiedMatching +OMIM:614202 rafiq syndrome skos:exactMatch MONDO:0013624 semapv:UnspecifiedMatching +OMIM:614202 rafiq syndrome skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +OMIM:614202 rafiq syndrome skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching +OMIM:614203 parkinson disease 17 skos:exactMatch MONDO:0013625 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch MONDO:0013626 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:404546 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C0392439 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching +OMIM:614205 three m syndrome 3 skos:exactMatch MONDO:0013627 semapv:UnspecifiedMatching +OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:24511 semapv:UnspecifiedMatching +OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:CHTOP semapv:UnspecifiedMatching +OMIM:614206 CHTOP skos:exactMatch ncbigene:26097 semapv:UnspecifiedMatching +OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 skos:exactMatch MONDO:0013628 semapv:UnspecifiedMatching +OMIM:614208 intellectual developmental disorder, autosomal recessive 16 skos:exactMatch MONDO:0013629 semapv:UnspecifiedMatching +OMIM:614209 meckel syndrome, iia 9 skos:exactMatch MONDO:0013630 semapv:UnspecifiedMatching +OMIM:614210 lung cancer susceptibility 5 skos:exactMatch MONDO:0013631 semapv:UnspecifiedMatching +OMIM:614211 deafness, autosomal dominant 33 skos:exactMatch MONDO:0013632 semapv:UnspecifiedMatching +OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch MONDO:0013633 semapv:UnspecifiedMatching +OMIM:614213 neuropathy, hereditary sensory, iia 2c skos:exactMatch MONDO:0013634 semapv:UnspecifiedMatching +OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:18653 semapv:UnspecifiedMatching +OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:KLHL6 semapv:UnspecifiedMatching +OMIM:614214 KLHL6 skos:exactMatch ncbigene:89857 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch UMLS:C1428365 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch UMLS:C3277074 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:24268 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:ASCC1 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch ncbigene:51008 semapv:UnspecifiedMatching +OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:24103 semapv:UnspecifiedMatching +OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:ASCC2 semapv:UnspecifiedMatching +OMIM:614216 ASCC2 skos:exactMatch ncbigene:84164 semapv:UnspecifiedMatching +OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:18697 semapv:UnspecifiedMatching +OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:ASCC3 semapv:UnspecifiedMatching +OMIM:614217 ASCC3 skos:exactMatch ncbigene:10973 semapv:UnspecifiedMatching +OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:26600 semapv:UnspecifiedMatching +OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:WDR81 semapv:UnspecifiedMatching +OMIM:614218 WDR81 skos:exactMatch ncbigene:124997 semapv:UnspecifiedMatching +OMIM:614219 adams-oliver syndrome 2 skos:exactMatch MONDO:0013635 semapv:UnspecifiedMatching +OMIM:614220 biliary cirrhosis, primary, 4 skos:exactMatch MONDO:0013636 semapv:UnspecifiedMatching +OMIM:614221 biliary cirrhosis, primary, 5 skos:exactMatch MONDO:0013637 semapv:UnspecifiedMatching +OMIM:614222 warburg micro syndrome 3 skos:exactMatch MONDO:0013638 semapv:UnspecifiedMatching +OMIM:614223 narcolepsy 6, susceptibility to skos:exactMatch MONDO:0013639 semapv:UnspecifiedMatching +OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis skos:exactMatch MONDO:0013640 semapv:UnspecifiedMatching +OMIM:614225 warburg micro syndrome 2 skos:exactMatch MONDO:0013641 semapv:UnspecifiedMatching +OMIM:614226 holoprosencephaly 11 skos:exactMatch MONDO:0013642 semapv:UnspecifiedMatching +OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 skos:exactMatch MONDO:0013643 semapv:UnspecifiedMatching +OMIM:614228 charcot-marie-tooth disease, axonal, iia 2o skos:exactMatch MONDO:0013644 semapv:UnspecifiedMatching +OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 skos:exactMatch MONDO:0013645 semapv:UnspecifiedMatching +OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch MONDO:0013646 semapv:UnspecifiedMatching +OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 semapv:UnspecifiedMatching +OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch UMLS:C3280231 semapv:UnspecifiedMatching +OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch MONDO:0031481 semapv:UnspecifiedMatching +OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:5209 semapv:UnspecifiedMatching +OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:HSD11B2 semapv:UnspecifiedMatching +OMIM:614232 HSD11B2 skos:exactMatch ncbigene:3291 semapv:UnspecifiedMatching +OMIM:614233 hyperpigmentation, familial progressive, 1 skos:exactMatch MONDO:0013648 semapv:UnspecifiedMatching +OMIM:614234 PIFO skos:exactMatch UMLS:C1823708 semapv:UnspecifiedMatching +OMIM:614234 PIFO skos:exactMatch hgnc.symbol:CIMAP3 semapv:UnspecifiedMatching +OMIM:614234 PIFO skos:exactMatch ncbigene:128344 semapv:UnspecifiedMatching +OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:26974 semapv:UnspecifiedMatching +OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:PDZD8 semapv:UnspecifiedMatching +OMIM:614235 PDZD8 skos:exactMatch ncbigene:118987 semapv:UnspecifiedMatching +OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:25582 semapv:UnspecifiedMatching +OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:SLC38A7 semapv:UnspecifiedMatching +OMIM:614236 SLC38A7 skos:exactMatch ncbigene:55238 semapv:UnspecifiedMatching +OMIM:614237 hypotrichosis 9 skos:exactMatch MONDO:0013649 semapv:UnspecifiedMatching +OMIM:614238 hypotrichosis 10 skos:exactMatch MONDO:0013650 semapv:UnspecifiedMatching +OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:26509 semapv:UnspecifiedMatching +OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:PHETA1 semapv:UnspecifiedMatching +OMIM:614239 PHETA1 skos:exactMatch ncbigene:144717 semapv:UnspecifiedMatching +OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:27161 semapv:UnspecifiedMatching +OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:PHETA2 semapv:UnspecifiedMatching +OMIM:614240 PHETA2 skos:exactMatch ncbigene:150368 semapv:UnspecifiedMatching +OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:26756 semapv:UnspecifiedMatching +OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:LCLAT1 semapv:UnspecifiedMatching +OMIM:614241 LCLAT1 skos:exactMatch ncbigene:253558 semapv:UnspecifiedMatching +OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:23520 semapv:UnspecifiedMatching +OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:SLC16A9 semapv:UnspecifiedMatching +OMIM:614242 SLC16A9 skos:exactMatch ncbigene:220963 semapv:UnspecifiedMatching +OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:8149 semapv:UnspecifiedMatching +OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:OPLAH semapv:UnspecifiedMatching +OMIM:614243 OPLAH skos:exactMatch ncbigene:26873 semapv:UnspecifiedMatching +OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:28995 semapv:UnspecifiedMatching +OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:PDXDC1 semapv:UnspecifiedMatching +OMIM:614244 PDXDC1 skos:exactMatch ncbigene:23042 semapv:UnspecifiedMatching +OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:27288 semapv:UnspecifiedMatching +OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:ACSF3 semapv:UnspecifiedMatching +OMIM:614245 ACSF3 skos:exactMatch ncbigene:197322 semapv:UnspecifiedMatching +OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:25875 semapv:UnspecifiedMatching +OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:NAA60 semapv:UnspecifiedMatching +OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching +OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:32112 semapv:UnspecifiedMatching +OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:MIR519D semapv:UnspecifiedMatching +OMIM:614247 MIR519D skos:exactMatch ncbigene:574480 semapv:UnspecifiedMatching +OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching +OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching +OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching +OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:exactMatch MONDO:0013651 semapv:UnspecifiedMatching +OMIM:614250 narcolepsy 7 skos:exactMatch MONDO:0013652 semapv:UnspecifiedMatching +OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch MONDO:0013653 semapv:UnspecifiedMatching +OMIM:614252 aneurysm, intracranial berry, 11 skos:exactMatch MONDO:0013654 semapv:UnspecifiedMatching +OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch MONDO:0013655 semapv:UnspecifiedMatching +OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch UMLS:C3280282 semapv:UnspecifiedMatching +OMIM:614255 nescav syndrome skos:exactMatch MONDO:0013656 semapv:UnspecifiedMatching +OMIM:614255 nescav syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +OMIM:614255 nescav syndrome skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching +OMIM:614256 intellectual developmental disorder, autosomal dominant 10 skos:exactMatch MONDO:0013657 semapv:UnspecifiedMatching +OMIM:614257 chromosome 20q11-q12 deletion syndrome skos:exactMatch MONDO:0013658 semapv:UnspecifiedMatching +OMIM:614258 POLR3A skos:exactMatch hgnc.symbol:30074 semapv:UnspecifiedMatching +OMIM:614258 POLR3A skos:exactMatch hgnc.symbol:POLR3A semapv:UnspecifiedMatching +OMIM:614258 POLR3A skos:exactMatch ncbigene:11128 semapv:UnspecifiedMatching +OMIM:614259 CFAP57 skos:exactMatch hgnc.symbol:26485 semapv:UnspecifiedMatching +OMIM:614259 CFAP57 skos:exactMatch hgnc.symbol:CFAP57 semapv:UnspecifiedMatching +OMIM:614259 CFAP57 skos:exactMatch ncbigene:149465 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch UMLS:C1428691 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch hgnc.symbol:28337 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch hgnc.symbol:C9orf72 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch ncbigene:203228 semapv:UnspecifiedMatching +OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch MONDO:0013659 semapv:UnspecifiedMatching +OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 semapv:UnspecifiedMatching +OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch UMLS:C3280296 semapv:UnspecifiedMatching +OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy skos:exactMatch MONDO:0013660 semapv:UnspecifiedMatching +OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc.symbol:37125 semapv:UnspecifiedMatching +OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc.symbol:BACE1-AS semapv:UnspecifiedMatching +OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch ncbigene:100379571 semapv:UnspecifiedMatching +OMIM:614264 ARHGAP30 skos:exactMatch hgnc.symbol:27414 semapv:UnspecifiedMatching +OMIM:614264 ARHGAP30 skos:exactMatch hgnc.symbol:ARHGAP30 semapv:UnspecifiedMatching +OMIM:614264 ARHGAP30 skos:exactMatch ncbigene:257106 semapv:UnspecifiedMatching +OMIM:614265 combined malonic and methylmalonic aciduria skos:exactMatch MONDO:0013661 semapv:UnspecifiedMatching +OMIM:614266 barrett esophagus skos:exactMatch MONDO:0013662 semapv:UnspecifiedMatching +OMIM:614267 ACOT6 skos:exactMatch hgnc.symbol:33159 semapv:UnspecifiedMatching +OMIM:614267 ACOT6 skos:exactMatch hgnc.symbol:ACOT6 semapv:UnspecifiedMatching +OMIM:614267 ACOT6 skos:exactMatch ncbigene:641372 semapv:UnspecifiedMatching +OMIM:614268 ADGRF4 skos:exactMatch hgnc.symbol:19011 semapv:UnspecifiedMatching +OMIM:614268 ADGRF4 skos:exactMatch hgnc.symbol:ADGRF4 semapv:UnspecifiedMatching +OMIM:614268 ADGRF4 skos:exactMatch ncbigene:221393 semapv:UnspecifiedMatching +OMIM:614269 GPR153 skos:exactMatch hgnc.symbol:23618 semapv:UnspecifiedMatching +OMIM:614269 GPR153 skos:exactMatch hgnc.symbol:GPR153 semapv:UnspecifiedMatching +OMIM:614269 GPR153 skos:exactMatch ncbigene:387509 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch UMLS:C1824636 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:25325 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:CFAP65 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch ncbigene:255101 semapv:UnspecifiedMatching +OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:33451 semapv:UnspecifiedMatching +OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:CCDC137 semapv:UnspecifiedMatching +OMIM:614271 CCDC137 skos:exactMatch ncbigene:339230 semapv:UnspecifiedMatching +OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:25790 semapv:UnspecifiedMatching +OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:FASTKD5 semapv:UnspecifiedMatching +OMIM:614272 FASTKD5 skos:exactMatch ncbigene:60493 semapv:UnspecifiedMatching +OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:31271 semapv:UnspecifiedMatching +OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:OR4C46 semapv:UnspecifiedMatching +OMIM:614273 OR4C46 skos:exactMatch ncbigene:119749 semapv:UnspecifiedMatching +OMIM:614274 SBNO1 skos:exactMatch hgnc.symbol:22973 semapv:UnspecifiedMatching +OMIM:614274 SBNO1 skos:exactMatch hgnc.symbol:SBNO1 semapv:UnspecifiedMatching +OMIM:614274 SBNO1 skos:exactMatch ncbigene:55206 semapv:UnspecifiedMatching +OMIM:614275 ZNF565 skos:exactMatch hgnc.symbol:26726 semapv:UnspecifiedMatching +OMIM:614275 ZNF565 skos:exactMatch hgnc.symbol:ZNF565 semapv:UnspecifiedMatching +OMIM:614275 ZNF565 skos:exactMatch ncbigene:147929 semapv:UnspecifiedMatching +OMIM:614276 PLCL2 skos:exactMatch hgnc.symbol:9064 semapv:UnspecifiedMatching +OMIM:614276 PLCL2 skos:exactMatch hgnc.symbol:PLCL2 semapv:UnspecifiedMatching +OMIM:614276 PLCL2 skos:exactMatch ncbigene:23228 semapv:UnspecifiedMatching +OMIM:614277 UBE2W skos:exactMatch hgnc.symbol:25616 semapv:UnspecifiedMatching +OMIM:614277 UBE2W skos:exactMatch hgnc.symbol:UBE2W semapv:UnspecifiedMatching +OMIM:614277 UBE2W skos:exactMatch ncbigene:55284 semapv:UnspecifiedMatching +OMIM:614278 platelet-activating factor acetylhydrolase deficiency skos:exactMatch MONDO:0013663 semapv:UnspecifiedMatching +OMIM:614279 46,xy sex reversal 8 skos:exactMatch MONDO:0013664 semapv:UnspecifiedMatching +OMIM:614279 46,xy sex reversal 8 skos:exactMatch Orphanet:443087 semapv:UnspecifiedMatching +OMIM:614279 46,xy sex reversal 8 skos:exactMatch UMLS:C1839840 semapv:UnspecifiedMatching +OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch MONDO:0013665 semapv:UnspecifiedMatching +OMIM:614281 ESAM skos:exactMatch hgnc.symbol:17474 semapv:UnspecifiedMatching +OMIM:614281 ESAM skos:exactMatch hgnc.symbol:ESAM semapv:UnspecifiedMatching +OMIM:614281 ESAM skos:exactMatch ncbigene:90952 semapv:UnspecifiedMatching +OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:24188 semapv:UnspecifiedMatching +OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:SDF4 semapv:UnspecifiedMatching +OMIM:614282 SDF4 skos:exactMatch ncbigene:51150 semapv:UnspecifiedMatching +OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:18713 semapv:UnspecifiedMatching +OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:GLCCI1 semapv:UnspecifiedMatching +OMIM:614283 GLCCI1 skos:exactMatch ncbigene:113263 semapv:UnspecifiedMatching +OMIM:614284 stickler syndrome, iia 5 skos:exactMatch MONDO:0013666 semapv:UnspecifiedMatching +OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:28732 semapv:UnspecifiedMatching +OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:C1QTNF9 semapv:UnspecifiedMatching +OMIM:614285 C1QTNF9 skos:exactMatch ncbigene:338872 semapv:UnspecifiedMatching +OMIM:614286 myelodysplastic syndrome skos:exactMatch MONDO:0018881 semapv:UnspecifiedMatching +OMIM:614286 myelodysplastic syndrome skos:exactMatch Orphanet:52688 semapv:UnspecifiedMatching +OMIM:614286 myelodysplastic syndrome skos:exactMatch UMLS:C3463824 semapv:UnspecifiedMatching +OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:21017 semapv:UnspecifiedMatching +OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:OFCC1 semapv:UnspecifiedMatching +OMIM:614287 OFCC1 skos:exactMatch ncbigene:266553 semapv:UnspecifiedMatching +OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:30211 semapv:UnspecifiedMatching +OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:ACAD11 semapv:UnspecifiedMatching +OMIM:614288 ACAD11 skos:exactMatch ncbigene:84129 semapv:UnspecifiedMatching +OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:15897 semapv:UnspecifiedMatching +OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:SEL1L2 semapv:UnspecifiedMatching +OMIM:614289 SEL1L2 skos:exactMatch ncbigene:80343 semapv:UnspecifiedMatching +OMIM:614290 tetrasomy 18p skos:exactMatch MONDO:0013668 semapv:UnspecifiedMatching +OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch MONDO:0013669 semapv:UnspecifiedMatching +OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch MONDO:0013670 semapv:UnspecifiedMatching +OMIM:614293 hydatidiform mole, recurrent, 2 skos:exactMatch MONDO:0013671 semapv:UnspecifiedMatching +OMIM:614294 chromosome 15q25 deletion syndrome skos:exactMatch MONDO:0013672 semapv:UnspecifiedMatching +OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:19351 semapv:UnspecifiedMatching +OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:BICC1 semapv:UnspecifiedMatching +OMIM:614295 BICC1 skos:exactMatch ncbigene:80114 semapv:UnspecifiedMatching +OMIM:614296 wolfram-like syndrome, autosomal dominant skos:exactMatch MONDO:0013673 semapv:UnspecifiedMatching +OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:25443 semapv:UnspecifiedMatching +OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:C19orf12 semapv:UnspecifiedMatching +OMIM:614297 C19ORF12 skos:exactMatch ncbigene:83636 semapv:UnspecifiedMatching +OMIM:614298 neurodegeneration with brain iron accumulation 4 skos:exactMatch MONDO:0013674 semapv:UnspecifiedMatching +OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch MONDO:0013675 semapv:UnspecifiedMatching +OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch Orphanet:401874 semapv:UnspecifiedMatching +OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching +OMIM:614300 hypermethioninemia due to adenosine kinase deficiency skos:exactMatch MONDO:0100255 semapv:UnspecifiedMatching +OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:33279 semapv:UnspecifiedMatching +OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:ATXN1L semapv:UnspecifiedMatching +OMIM:614301 ATXN1L skos:exactMatch ncbigene:342371 semapv:UnspecifiedMatching +OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch MONDO:0013677 semapv:UnspecifiedMatching +OMIM:614303 edict syndrome skos:exactMatch MONDO:0013678 semapv:UnspecifiedMatching +OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:31523 semapv:UnspecifiedMatching +OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:MIR137 semapv:UnspecifiedMatching +OMIM:614304 MIR137 skos:exactMatch ncbigene:406928 semapv:UnspecifiedMatching +OMIM:614305 sclerosteosis 2 skos:exactMatch MONDO:0013679 semapv:UnspecifiedMatching +OMIM:614306 cognitive impairment with or without cerebellar ataxia skos:exactMatch MONDO:0013680 semapv:UnspecifiedMatching +OMIM:614307 alpha-methylacyl-coa racemase deficiency skos:exactMatch MONDO:0013681 semapv:UnspecifiedMatching +OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:48661 semapv:UnspecifiedMatching +OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:FTCDNL1 semapv:UnspecifiedMatching +OMIM:614308 FTCDNL1 skos:exactMatch ncbigene:348751 semapv:UnspecifiedMatching +OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:26653 semapv:UnspecifiedMatching +OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:TRMT44 semapv:UnspecifiedMatching +OMIM:614309 TRMT44 skos:exactMatch ncbigene:152992 semapv:UnspecifiedMatching +OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:29972 semapv:UnspecifiedMatching +OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:CEP70 semapv:UnspecifiedMatching +OMIM:614310 CEP70 skos:exactMatch ncbigene:80321 semapv:UnspecifiedMatching +OMIM:614311 SYNDIG1 skos:exactMatch hgnc.symbol:15885 semapv:UnspecifiedMatching +OMIM:614311 SYNDIG1 skos:exactMatch hgnc.symbol:SYNDIG1 semapv:UnspecifiedMatching +OMIM:614311 SYNDIG1 skos:exactMatch ncbigene:79953 semapv:UnspecifiedMatching +OMIM:614312 ZMYND15 skos:exactMatch hgnc.symbol:20997 semapv:UnspecifiedMatching +OMIM:614312 ZMYND15 skos:exactMatch hgnc.symbol:ZMYND15 semapv:UnspecifiedMatching +OMIM:614312 ZMYND15 skos:exactMatch ncbigene:84225 semapv:UnspecifiedMatching +OMIM:614313 ACOT1 skos:exactMatch hgnc.symbol:33128 semapv:UnspecifiedMatching +OMIM:614313 ACOT1 skos:exactMatch hgnc.symbol:ACOT1 semapv:UnspecifiedMatching +OMIM:614313 ACOT1 skos:exactMatch ncbigene:641371 semapv:UnspecifiedMatching +OMIM:614314 ACOT4 skos:exactMatch hgnc.symbol:19748 semapv:UnspecifiedMatching +OMIM:614314 ACOT4 skos:exactMatch hgnc.symbol:ACOT4 semapv:UnspecifiedMatching +OMIM:614314 ACOT4 skos:exactMatch ncbigene:122970 semapv:UnspecifiedMatching +OMIM:614315 ACOT12 skos:exactMatch hgnc.symbol:24436 semapv:UnspecifiedMatching +OMIM:614315 ACOT12 skos:exactMatch hgnc.symbol:ACOT12 semapv:UnspecifiedMatching +OMIM:614315 ACOT12 skos:exactMatch ncbigene:134526 semapv:UnspecifiedMatching +OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:17792 semapv:UnspecifiedMatching +OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:VTI1A semapv:UnspecifiedMatching +OMIM:614316 VTI1A skos:exactMatch ncbigene:143187 semapv:UnspecifiedMatching +OMIM:614317 vesicoureteral reflux 4 skos:exactMatch MONDO:0013682 semapv:UnspecifiedMatching +OMIM:614318 vesicoureteral reflux 5 skos:exactMatch MONDO:0013683 semapv:UnspecifiedMatching +OMIM:614319 vesicoureteral reflux 6 skos:exactMatch MONDO:0013684 semapv:UnspecifiedMatching +OMIM:614320 pancreatic cancer, susceptibility to, 4 skos:exactMatch MONDO:0013685 semapv:UnspecifiedMatching +OMIM:614321 myopathy, distal, tateyama iia skos:exactMatch MONDO:0013686 semapv:UnspecifiedMatching +OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch MONDO:0013687 semapv:UnspecifiedMatching +OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch Orphanet:284282 semapv:UnspecifiedMatching +OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching +OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch MONDO:0013688 semapv:UnspecifiedMatching +OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch Orphanet:79150 semapv:UnspecifiedMatching +OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C0263579 semapv:UnspecifiedMatching +OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C1304501 semapv:UnspecifiedMatching +OMIM:614324 ovarian dysgenesis 3 skos:exactMatch MONDO:0013689 semapv:UnspecifiedMatching +OMIM:614325 pitt-hopkins-like syndrome 2 skos:exactMatch MONDO:0013690 semapv:UnspecifiedMatching +OMIM:614326 feingold syndrome 2 skos:exactMatch MONDO:0013691 semapv:UnspecifiedMatching +OMIM:614327 tumor predisposition syndrome 1 skos:exactMatch MONDO:0013692 semapv:UnspecifiedMatching +OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch MONDO:0013693 semapv:UnspecifiedMatching +OMIM:614329 intellectual developmental disorder, autosomal recessive 31 skos:exactMatch MONDO:0013694 semapv:UnspecifiedMatching +OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:24181 semapv:UnspecifiedMatching +OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:C1QL2 semapv:UnspecifiedMatching +OMIM:614330 C1QL2 skos:exactMatch ncbigene:165257 semapv:UnspecifiedMatching +OMIM:614331 colorectal cancer, hereditary nonpolyposis, iia 6 skos:exactMatch MONDO:0013695 semapv:UnspecifiedMatching +OMIM:614332 chromosome 2p16.3 deletion syndrome skos:exactMatch MONDO:0013696 semapv:UnspecifiedMatching +OMIM:614333 intellectual developmental disorder, autosomal recessive 29 skos:exactMatch MONDO:0013697 semapv:UnspecifiedMatching +OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:30343 semapv:UnspecifiedMatching +OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:DNAJC13 semapv:UnspecifiedMatching +OMIM:614334 DNAJC13 skos:exactMatch ncbigene:23317 semapv:UnspecifiedMatching +OMIM:614335 arthrogryposis, distal, iia 1b skos:exactMatch MONDO:0013698 semapv:UnspecifiedMatching +OMIM:614336 PAM16 skos:exactMatch hgnc.symbol:29679 semapv:UnspecifiedMatching +OMIM:614336 PAM16 skos:exactMatch hgnc.symbol:PAM16 semapv:UnspecifiedMatching +OMIM:614336 PAM16 skos:exactMatch ncbigene:51025 semapv:UnspecifiedMatching +OMIM:614337 lynch syndrome 4 skos:exactMatch MONDO:0013699 semapv:UnspecifiedMatching +OMIM:614338 pancreatic lipase deficiency skos:exactMatch MONDO:0013700 semapv:UnspecifiedMatching +OMIM:614339 skos:exactMatch MONDO:0013701 semapv:UnspecifiedMatching +OMIM:614340 intellectual developmental disorder, autosomal recessive 27 skos:exactMatch MONDO:0013702 semapv:UnspecifiedMatching +OMIM:614341 intellectual developmental disorder, autosomal recessive 33 skos:exactMatch MONDO:0013703 semapv:UnspecifiedMatching +OMIM:614342 intellectual developmental disorder, autosomal recessive 30 skos:exactMatch MONDO:0013704 semapv:UnspecifiedMatching +OMIM:614343 intellectual developmental disorder, autosomal recessive 19 skos:exactMatch MONDO:0013705 semapv:UnspecifiedMatching +OMIM:614344 intellectual developmental disorder, autosomal recessive 23 skos:exactMatch MONDO:0013706 semapv:UnspecifiedMatching +OMIM:614345 intellectual developmental disorder, autosomal recessive 24 skos:exactMatch MONDO:0013707 semapv:UnspecifiedMatching +OMIM:614346 intellectual developmental disorder, autosomal recessive 25 skos:exactMatch MONDO:0013708 semapv:UnspecifiedMatching +OMIM:614347 intellectual developmental disorder, autosomal recessive 28 skos:exactMatch MONDO:0013709 semapv:UnspecifiedMatching +OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:21214 semapv:UnspecifiedMatching +OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:ADTRP semapv:UnspecifiedMatching +OMIM:614348 ADTRP skos:exactMatch ncbigene:84830 semapv:UnspecifiedMatching +OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:17894 semapv:UnspecifiedMatching +OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:ZNF638 semapv:UnspecifiedMatching +OMIM:614349 ZNF638 skos:exactMatch ncbigene:27332 semapv:UnspecifiedMatching +OMIM:614350 lynch syndrome 5 skos:exactMatch MONDO:0013710 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch UMLS:C1428756 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch UMLS:C4225166 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:28958 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:NUP93 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch ncbigene:9688 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch UMLS:C1425685 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:18658 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:NUP205 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch ncbigene:23165 semapv:UnspecifiedMatching +OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:34340 semapv:UnspecifiedMatching +OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:HAS2-AS1 semapv:UnspecifiedMatching +OMIM:614353 HAS2AS1 skos:exactMatch ncbigene:594842 semapv:UnspecifiedMatching +OMIM:614354 pro2268 gene skos:exactMatch ncbigene:55390 semapv:UnspecifiedMatching +OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:16091 semapv:UnspecifiedMatching +OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:ACSS1 semapv:UnspecifiedMatching +OMIM:614355 ACSS1 skos:exactMatch ncbigene:84532 semapv:UnspecifiedMatching +OMIM:614356 ACSS3 skos:exactMatch hgnc.symbol:24723 semapv:UnspecifiedMatching +OMIM:614356 ACSS3 skos:exactMatch hgnc.symbol:ACSS3 semapv:UnspecifiedMatching +OMIM:614356 ACSS3 skos:exactMatch ncbigene:79611 semapv:UnspecifiedMatching +OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:18049 semapv:UnspecifiedMatching +OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:ACSM1 semapv:UnspecifiedMatching +OMIM:614357 ACSM1 skos:exactMatch ncbigene:116285 semapv:UnspecifiedMatching +OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:32017 semapv:UnspecifiedMatching +OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:ACSM2A semapv:UnspecifiedMatching +OMIM:614358 ACSM2A skos:exactMatch ncbigene:123876 semapv:UnspecifiedMatching +OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:30931 semapv:UnspecifiedMatching +OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:ACSM2B semapv:UnspecifiedMatching +OMIM:614359 ACSM2B skos:exactMatch ncbigene:348158 semapv:UnspecifiedMatching +OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:32016 semapv:UnspecifiedMatching +OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:ACSM4 semapv:UnspecifiedMatching +OMIM:614360 ACSM4 skos:exactMatch ncbigene:341392 semapv:UnspecifiedMatching +OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:26060 semapv:UnspecifiedMatching +OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:ACSM5 semapv:UnspecifiedMatching +OMIM:614361 ACSM5 skos:exactMatch ncbigene:54988 semapv:UnspecifiedMatching +OMIM:614362 ACSBG1 skos:exactMatch hgnc.symbol:29567 semapv:UnspecifiedMatching +OMIM:614362 ACSBG1 skos:exactMatch hgnc.symbol:ACSBG1 semapv:UnspecifiedMatching +OMIM:614362 ACSBG1 skos:exactMatch ncbigene:23205 semapv:UnspecifiedMatching +OMIM:614363 ACSBG2 skos:exactMatch hgnc.symbol:24174 semapv:UnspecifiedMatching +OMIM:614363 ACSBG2 skos:exactMatch hgnc.symbol:ACSBG2 semapv:UnspecifiedMatching +OMIM:614363 ACSBG2 skos:exactMatch ncbigene:81616 semapv:UnspecifiedMatching +OMIM:614364 AACS skos:exactMatch hgnc.symbol:21298 semapv:UnspecifiedMatching +OMIM:614364 AACS skos:exactMatch hgnc.symbol:AACS semapv:UnspecifiedMatching +OMIM:614364 AACS skos:exactMatch ncbigene:65985 semapv:UnspecifiedMatching +OMIM:614365 AASDH skos:exactMatch hgnc.symbol:23993 semapv:UnspecifiedMatching +OMIM:614365 AASDH skos:exactMatch hgnc.symbol:AASDH semapv:UnspecifiedMatching +OMIM:614365 AASDH skos:exactMatch ncbigene:132949 semapv:UnspecifiedMatching +OMIM:614366 POLR3B skos:exactMatch hgnc.symbol:30348 semapv:UnspecifiedMatching +OMIM:614366 POLR3B skos:exactMatch hgnc.symbol:POLR3B semapv:UnspecifiedMatching +OMIM:614366 POLR3B skos:exactMatch ncbigene:55703 semapv:UnspecifiedMatching +OMIM:614367 AP5B1 skos:exactMatch hgnc.symbol:25104 semapv:UnspecifiedMatching +OMIM:614367 AP5B1 skos:exactMatch hgnc.symbol:AP5B1 semapv:UnspecifiedMatching +OMIM:614367 AP5B1 skos:exactMatch ncbigene:91056 semapv:UnspecifiedMatching +OMIM:614368 AP5M1 skos:exactMatch hgnc.symbol:20192 semapv:UnspecifiedMatching +OMIM:614368 AP5M1 skos:exactMatch hgnc.symbol:AP5M1 semapv:UnspecifiedMatching +OMIM:614368 AP5M1 skos:exactMatch ncbigene:55745 semapv:UnspecifiedMatching +OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss skos:exactMatch MONDO:0013711 semapv:UnspecifiedMatching +OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch MONDO:0013712 semapv:UnspecifiedMatching +OMIM:614371 dengue virus, susceptibility to skos:exactMatch MONDO:0013713 semapv:UnspecifiedMatching +OMIM:614372 mannose-binding lectin deficiency skos:exactMatch MONDO:0013714 semapv:UnspecifiedMatching +OMIM:614373 amyotrophic lateral sclerosis 16, juvenile skos:exactMatch MONDO:0013715 semapv:UnspecifiedMatching +OMIM:614375 aortic aneurysm, familial abdominal, 4 skos:exactMatch MONDO:0013716 semapv:UnspecifiedMatching +OMIM:614376 short-rib thoracic dysplasia 5 with or without polydactyly skos:exactMatch MONDO:0013717 semapv:UnspecifiedMatching +OMIM:614377 nephronophthisis 13 skos:exactMatch MONDO:0013718 semapv:UnspecifiedMatching +OMIM:614378 cranioectodermal dysplasia 4 skos:exactMatch MONDO:0013719 semapv:UnspecifiedMatching +OMIM:614379 complement component 4b deficiency skos:exactMatch MONDO:0013720 semapv:UnspecifiedMatching +OMIM:614380 complement component 4a deficiency skos:exactMatch MONDO:0013721 semapv:UnspecifiedMatching +OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch MONDO:0013722 semapv:UnspecifiedMatching +OMIM:614382 bacteremia, susceptibility to, 1 skos:exactMatch MONDO:0013723 semapv:UnspecifiedMatching +OMIM:614383 bacteremia, susceptibility to, 2 skos:exactMatch MONDO:0013724 semapv:UnspecifiedMatching +OMIM:614384 MIR492 skos:exactMatch hgnc.symbol:32081 semapv:UnspecifiedMatching +OMIM:614384 MIR492 skos:exactMatch hgnc.symbol:MIR492 semapv:UnspecifiedMatching +OMIM:614384 MIR492 skos:exactMatch ncbigene:574449 semapv:UnspecifiedMatching +OMIM:614385 colorectal cancer, hereditary nonpolyposis, iia 7 skos:exactMatch MONDO:0013725 semapv:UnspecifiedMatching +OMIM:614386 PRRT2 skos:exactMatch hgnc.symbol:30500 semapv:UnspecifiedMatching +OMIM:614386 PRRT2 skos:exactMatch hgnc.symbol:PRRT2 semapv:UnspecifiedMatching +OMIM:614386 PRRT2 skos:exactMatch ncbigene:112476 semapv:UnspecifiedMatching +OMIM:614387 ZNF526 skos:exactMatch hgnc.symbol:29415 semapv:UnspecifiedMatching +OMIM:614387 ZNF526 skos:exactMatch hgnc.symbol:ZNF526 semapv:UnspecifiedMatching +OMIM:614387 ZNF526 skos:exactMatch ncbigene:116115 semapv:UnspecifiedMatching +OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch MONDO:0013726 semapv:UnspecifiedMatching +OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch Orphanet:330050 semapv:UnspecifiedMatching +OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching +OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 skos:exactMatch MONDO:0013727 semapv:UnspecifiedMatching +OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch MONDO:0013728 semapv:UnspecifiedMatching +OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch MONDO:0013729 semapv:UnspecifiedMatching +OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:20612 semapv:UnspecifiedMatching +OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:TDRD3 semapv:UnspecifiedMatching +OMIM:614392 TDRD3 skos:exactMatch ncbigene:81550 semapv:UnspecifiedMatching +OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:21257 semapv:UnspecifiedMatching +OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:OARD1 semapv:UnspecifiedMatching +OMIM:614393 OARD1 skos:exactMatch ncbigene:221443 semapv:UnspecifiedMatching +OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:30989 semapv:UnspecifiedMatching +OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:IFT20 semapv:UnspecifiedMatching +OMIM:614394 IFT20 skos:exactMatch ncbigene:90410 semapv:UnspecifiedMatching +OMIM:614395 graft-versus-host disease, susceptibility to skos:exactMatch MONDO:0100048 semapv:UnspecifiedMatching +OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:29066 semapv:UnspecifiedMatching +OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:GPATCH8 semapv:UnspecifiedMatching +OMIM:614396 GPATCH8 skos:exactMatch ncbigene:23131 semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch UMLS:C1825980 semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:25897 semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:MFSD2A semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch ncbigene:84879 semapv:UnspecifiedMatching +OMIM:614398 JCAD skos:exactMatch hgnc.symbol:29283 semapv:UnspecifiedMatching +OMIM:614398 JCAD skos:exactMatch hgnc.symbol:JCAD semapv:UnspecifiedMatching +OMIM:614398 JCAD skos:exactMatch ncbigene:57608 semapv:UnspecifiedMatching +OMIM:614399 congenital myopathy 10a, severe variant skos:exactMatch MONDO:0013731 semapv:UnspecifiedMatching +OMIM:614400 glucocorticoid therapy, response to skos:exactMatch MONDO:0013732 semapv:UnspecifiedMatching +OMIM:614401 accelerated tumor formation, susceptibility to skos:exactMatch MONDO:0013733 semapv:UnspecifiedMatching +OMIM:614402 microphthalmia, syndromic 11 skos:exactMatch MONDO:0013734 semapv:UnspecifiedMatching +OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:20561 semapv:UnspecifiedMatching +OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:RHBDF1 semapv:UnspecifiedMatching +OMIM:614403 RHBDF1 skos:exactMatch ncbigene:64285 semapv:UnspecifiedMatching +OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:20788 semapv:UnspecifiedMatching +OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:RHBDF2 semapv:UnspecifiedMatching +OMIM:614404 RHBDF2 skos:exactMatch ncbigene:79651 semapv:UnspecifiedMatching +OMIM:614405 DHX33 skos:exactMatch UMLS:C1424504 semapv:UnspecifiedMatching +OMIM:614405 DHX33 skos:exactMatch hgnc.symbol:16718 semapv:UnspecifiedMatching +OMIM:614405 DHX33 skos:exactMatch hgnc.symbol:DHX33 semapv:UnspecifiedMatching +OMIM:614405 DHX33 skos:exactMatch ncbigene:56919 semapv:UnspecifiedMatching +OMIM:614406 SCIMP skos:exactMatch hgnc.symbol:33504 semapv:UnspecifiedMatching +OMIM:614406 SCIMP skos:exactMatch hgnc.symbol:SCIMP semapv:UnspecifiedMatching +OMIM:614406 SCIMP skos:exactMatch ncbigene:388325 semapv:UnspecifiedMatching +OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome skos:exactMatch MONDO:0013735 semapv:UnspecifiedMatching +OMIM:614409 spastic paraplegia 46, autosomal recessive skos:exactMatch MONDO:0013737 semapv:UnspecifiedMatching +OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:26714 semapv:UnspecifiedMatching +OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:AFAP1L1 semapv:UnspecifiedMatching +OMIM:614410 AFAP1L1 skos:exactMatch ncbigene:134265 semapv:UnspecifiedMatching +OMIM:614411 glycerol quantitative trait locus skos:exactMatch MONDO:0044280 semapv:UnspecifiedMatching +OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:24746 semapv:UnspecifiedMatching +OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:TOPAZ1 semapv:UnspecifiedMatching +OMIM:614412 TOPAZ1 skos:exactMatch ncbigene:375337 semapv:UnspecifiedMatching +OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:24104 semapv:UnspecifiedMatching +OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:ACY3 semapv:UnspecifiedMatching +OMIM:614413 ACY3 skos:exactMatch ncbigene:91703 semapv:UnspecifiedMatching +OMIM:614414 deafness, autosomal recessive 96 skos:exactMatch MONDO:0013738 semapv:UnspecifiedMatching +OMIM:614415 chilblain lupus 2 skos:exactMatch MONDO:0013739 semapv:UnspecifiedMatching +OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies skos:exactMatch MONDO:0013740 semapv:UnspecifiedMatching +OMIM:614417 epilepsy, familial temporal lobe, 5 skos:exactMatch MONDO:0013741 semapv:UnspecifiedMatching +OMIM:614418 febrile seizures, familial, 11 skos:exactMatch MONDO:0024566 semapv:UnspecifiedMatching +OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch MONDO:0013743 semapv:UnspecifiedMatching +OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching +OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch UMLS:C3280742 semapv:UnspecifiedMatching +OMIM:614422 cataract 37 skos:exactMatch MONDO:0013744 semapv:UnspecifiedMatching +OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:14432 semapv:UnspecifiedMatching +OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:TMEM237 semapv:UnspecifiedMatching +OMIM:614423 TMEM237 skos:exactMatch ncbigene:65062 semapv:UnspecifiedMatching +OMIM:614424 joubert syndrome 14 skos:exactMatch MONDO:0013745 semapv:UnspecifiedMatching +OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:29029 semapv:UnspecifiedMatching +OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:TTI1 semapv:UnspecifiedMatching +OMIM:614425 TTI1 skos:exactMatch ncbigene:9675 semapv:UnspecifiedMatching +OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:26262 semapv:UnspecifiedMatching +OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:TTI2 semapv:UnspecifiedMatching +OMIM:614426 TTI2 skos:exactMatch ncbigene:80185 semapv:UnspecifiedMatching +OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:10669 semapv:UnspecifiedMatching +OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:TSHZ1 semapv:UnspecifiedMatching +OMIM:614427 TSHZ1 skos:exactMatch ncbigene:10194 semapv:UnspecifiedMatching +OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:30774 semapv:UnspecifiedMatching +OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:TFAP2E semapv:UnspecifiedMatching +OMIM:614428 TFAP2E skos:exactMatch ncbigene:339488 semapv:UnspecifiedMatching +OMIM:614429 ventricular septal defect 1 skos:exactMatch MONDO:0013746 semapv:UnspecifiedMatching +OMIM:614430 atrioventricular septal defect 4 skos:exactMatch MONDO:0013747 semapv:UnspecifiedMatching +OMIM:614431 ventricular septal defect 2 skos:exactMatch MONDO:0013748 semapv:UnspecifiedMatching +OMIM:614432 ventricular septal defect 3 skos:exactMatch MONDO:0013749 semapv:UnspecifiedMatching +OMIM:614433 atrial septal defect 8 skos:exactMatch MONDO:0013750 semapv:UnspecifiedMatching +OMIM:614434 cutis laxa, autosomal dominant 2 skos:exactMatch MONDO:0013751 semapv:UnspecifiedMatching +OMIM:614435 hypoplastic left heart syndrome 2 skos:exactMatch MONDO:0013752 semapv:UnspecifiedMatching +OMIM:614436 charcot-marie-tooth disease, axonal, iia 2p skos:exactMatch MONDO:0013753 semapv:UnspecifiedMatching +OMIM:614437 cutis laxa, autosomal recessive, iia 1b skos:exactMatch MONDO:0013754 semapv:UnspecifiedMatching +OMIM:614438 cutis laxa, autosomal recessive, iia 3b skos:exactMatch MONDO:0013755 semapv:UnspecifiedMatching +OMIM:614439 ARL14 skos:exactMatch UMLS:C1824214 semapv:UnspecifiedMatching +OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:22974 semapv:UnspecifiedMatching +OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:ARL14 semapv:UnspecifiedMatching +OMIM:614439 ARL14 skos:exactMatch ncbigene:80117 semapv:UnspecifiedMatching +OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:19093 semapv:UnspecifiedMatching +OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:PSD3 semapv:UnspecifiedMatching +OMIM:614440 PSD3 skos:exactMatch ncbigene:23362 semapv:UnspecifiedMatching +OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch MONDO:0013756 semapv:UnspecifiedMatching +OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:19096 semapv:UnspecifiedMatching +OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:PSD4 semapv:UnspecifiedMatching +OMIM:614442 PSD4 skos:exactMatch ncbigene:23550 semapv:UnspecifiedMatching +OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:15531 semapv:UnspecifiedMatching +OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:EBNA1BP2 semapv:UnspecifiedMatching +OMIM:614443 EBNA1BP2 skos:exactMatch ncbigene:10969 semapv:UnspecifiedMatching +OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:16851 semapv:UnspecifiedMatching +OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:RALGPS1 semapv:UnspecifiedMatching +OMIM:614444 RALGPS1 skos:exactMatch ncbigene:9649 semapv:UnspecifiedMatching +OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:19197 semapv:UnspecifiedMatching +OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:DPPA2 semapv:UnspecifiedMatching +OMIM:614445 DPPA2 skos:exactMatch ncbigene:151871 semapv:UnspecifiedMatching +OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:13541 semapv:UnspecifiedMatching +OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:ATP9B semapv:UnspecifiedMatching +OMIM:614446 ATP9B skos:exactMatch ncbigene:374868 semapv:UnspecifiedMatching +OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:30229 semapv:UnspecifiedMatching +OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:G0S2 semapv:UnspecifiedMatching +OMIM:614447 G0S2 skos:exactMatch ncbigene:50486 semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch UMLS:C3280816 semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch hgnc.symbol:40049 semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch hgnc.symbol:GMNC semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch ncbigene:647309 semapv:UnspecifiedMatching +OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:14257 semapv:UnspecifiedMatching +OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:PCDH20 semapv:UnspecifiedMatching +OMIM:614449 PCDH20 skos:exactMatch ncbigene:64881 semapv:UnspecifiedMatching +OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 skos:exactMatch MONDO:0013757 semapv:UnspecifiedMatching +OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:26292 semapv:UnspecifiedMatching +OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:ELOVL7 semapv:UnspecifiedMatching +OMIM:614451 ELOVL7 skos:exactMatch ncbigene:79993 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch UMLS:C1428532 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch UMLS:C4693933 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:25903 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:ATAD1 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch ncbigene:84896 semapv:UnspecifiedMatching +OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:18531 semapv:UnspecifiedMatching +OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:LRRC7 semapv:UnspecifiedMatching +OMIM:614453 LRRC7 skos:exactMatch ncbigene:57554 semapv:UnspecifiedMatching +OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:16803 semapv:UnspecifiedMatching +OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:UBE3C semapv:UnspecifiedMatching +OMIM:614454 UBE3C skos:exactMatch ncbigene:9690 semapv:UnspecifiedMatching +OMIM:614455 charcot-marie-tooth disease, dominant intermediate e skos:exactMatch MONDO:0013758 semapv:UnspecifiedMatching +OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch MONDO:0013759 semapv:UnspecifiedMatching +OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development skos:exactMatch MONDO:0013760 semapv:UnspecifiedMatching +OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) skos:exactMatch MONDO:0013761 semapv:UnspecifiedMatching +OMIM:614459 TMEM138 skos:exactMatch hgnc.symbol:26944 semapv:UnspecifiedMatching +OMIM:614459 TMEM138 skos:exactMatch hgnc.symbol:TMEM138 semapv:UnspecifiedMatching +OMIM:614459 TMEM138 skos:exactMatch ncbigene:51524 semapv:UnspecifiedMatching +OMIM:614460 USP47 skos:exactMatch hgnc.symbol:20076 semapv:UnspecifiedMatching +OMIM:614460 USP47 skos:exactMatch hgnc.symbol:USP47 semapv:UnspecifiedMatching +OMIM:614460 USP47 skos:exactMatch ncbigene:55031 semapv:UnspecifiedMatching +OMIM:614461 UQCC2 skos:exactMatch hgnc.symbol:21237 semapv:UnspecifiedMatching +OMIM:614461 UQCC2 skos:exactMatch hgnc.symbol:UQCC2 semapv:UnspecifiedMatching +OMIM:614461 UQCC2 skos:exactMatch ncbigene:84300 semapv:UnspecifiedMatching +OMIM:614462 hyperglycinemia, lactic acidosis, and seizures skos:exactMatch MONDO:0013762 semapv:UnspecifiedMatching +OMIM:614463 NDRG4 skos:exactMatch hgnc.symbol:14466 semapv:UnspecifiedMatching +OMIM:614463 NDRG4 skos:exactMatch hgnc.symbol:NDRG4 semapv:UnspecifiedMatching +OMIM:614463 NDRG4 skos:exactMatch ncbigene:65009 semapv:UnspecifiedMatching +OMIM:614464 joubert syndrome 15 skos:exactMatch MONDO:0013763 semapv:UnspecifiedMatching +OMIM:614465 joubert syndrome 16 skos:exactMatch MONDO:0013764 semapv:UnspecifiedMatching +OMIM:614466 coronary heart disease, susceptibility to, 6 skos:exactMatch MONDO:0013765 semapv:UnspecifiedMatching +OMIM:614468 familial cold autoinflammatory syndrome 3 skos:exactMatch MONDO:0013766 semapv:UnspecifiedMatching +OMIM:614469 SRRT skos:exactMatch UMLS:C2680450 semapv:UnspecifiedMatching +OMIM:614469 SRRT skos:exactMatch hgnc.symbol:24101 semapv:UnspecifiedMatching +OMIM:614469 SRRT skos:exactMatch hgnc.symbol:SRRT semapv:UnspecifiedMatching +OMIM:614469 SRRT skos:exactMatch ncbigene:51593 semapv:UnspecifiedMatching +OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch MONDO:0013767 semapv:UnspecifiedMatching +OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch Orphanet:268114 semapv:UnspecifiedMatching +OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch UMLS:C2674723 semapv:UnspecifiedMatching +OMIM:614471 USP19 skos:exactMatch hgnc.symbol:12617 semapv:UnspecifiedMatching +OMIM:614471 USP19 skos:exactMatch hgnc.symbol:USP19 semapv:UnspecifiedMatching +OMIM:614471 USP19 skos:exactMatch ncbigene:10869 semapv:UnspecifiedMatching +OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:21148 semapv:UnspecifiedMatching +OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:RNF123 semapv:UnspecifiedMatching +OMIM:614472 RNF123 skos:exactMatch ncbigene:63891 semapv:UnspecifiedMatching +OMIM:614473 arterial calcification, generalized, of infancy, 2 skos:exactMatch MONDO:0013768 semapv:UnspecifiedMatching +OMIM:614474 atrioventricular septal defect 5 skos:exactMatch MONDO:0013769 semapv:UnspecifiedMatching +OMIM:614475 atrial septal defect 9 skos:exactMatch MONDO:0013770 semapv:UnspecifiedMatching +OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:25835 semapv:UnspecifiedMatching +OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:THSD4 semapv:UnspecifiedMatching +OMIM:614476 THSD4 skos:exactMatch ncbigene:79875 semapv:UnspecifiedMatching +OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:27232 semapv:UnspecifiedMatching +OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:CFAP418 semapv:UnspecifiedMatching +OMIM:614477 CFAP418 skos:exactMatch ncbigene:157657 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch UMLS:C1824382 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch hgnc.symbol:28216 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch hgnc.symbol:COX14 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch ncbigene:84987 semapv:UnspecifiedMatching +OMIM:614479 MCAT skos:exactMatch hgnc.symbol:29622 semapv:UnspecifiedMatching +OMIM:614479 MCAT skos:exactMatch hgnc.symbol:MCAT semapv:UnspecifiedMatching +OMIM:614479 MCAT skos:exactMatch ncbigene:27349 semapv:UnspecifiedMatching +OMIM:614480 hypertriglyceridemia, transient infantile skos:exactMatch MONDO:0013771 semapv:UnspecifiedMatching +OMIM:614481 ATXN7AS1 skos:exactMatch hgnc.symbol:43718 semapv:UnspecifiedMatching +OMIM:614481 ATXN7AS1 skos:exactMatch hgnc.symbol:SCAANT1 semapv:UnspecifiedMatching +OMIM:614481 ATXN7AS1 skos:exactMatch ncbigene:100861563 semapv:UnspecifiedMatching +OMIM:614482 huppke-brendel syndrome skos:exactMatch MONDO:0013772 semapv:UnspecifiedMatching +OMIM:614483 brain small vessel disease 2 skos:exactMatch MONDO:0013773 semapv:UnspecifiedMatching +OMIM:614483 brain small vessel disease 2 skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching +OMIM:614483 brain small vessel disease 2 skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching +OMIM:614483 brain small vessel disease 2 skos:exactMatch UMLS:C3280970 semapv:UnspecifiedMatching +OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:24540 semapv:UnspecifiedMatching +OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:ANAPC13 semapv:UnspecifiedMatching +OMIM:614484 ANAPC13 skos:exactMatch ncbigene:25847 semapv:UnspecifiedMatching +OMIM:614485 trigonocephaly 2 skos:exactMatch MONDO:0013774 semapv:UnspecifiedMatching +OMIM:614486 thrombophilia due to thrombomodulin defect skos:exactMatch MONDO:0013775 semapv:UnspecifiedMatching +OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch MONDO:0013776 semapv:UnspecifiedMatching +OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch Orphanet:313772 semapv:UnspecifiedMatching +OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching +OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:35323 semapv:UnspecifiedMatching +OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:MIR1258 semapv:UnspecifiedMatching +OMIM:614488 MIR1258 skos:exactMatch ncbigene:100302172 semapv:UnspecifiedMatching +OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:32872 semapv:UnspecifiedMatching +OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:MIR616 semapv:UnspecifiedMatching +OMIM:614489 MIR616 skos:exactMatch ncbigene:693201 semapv:UnspecifiedMatching +OMIM:614491 pseudohypoaldosteronism, iia 2b skos:exactMatch MONDO:0013777 semapv:UnspecifiedMatching +OMIM:614492 pseudohypoaldosteronism, iia 2c skos:exactMatch MONDO:0013778 semapv:UnspecifiedMatching +OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch MONDO:0013779 semapv:UnspecifiedMatching +OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching +OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching +OMIM:614494 retinitis pigmentosa 63 skos:exactMatch MONDO:0013780 semapv:UnspecifiedMatching +OMIM:614495 pseudohypoaldosteronism, iia 2d skos:exactMatch MONDO:0013781 semapv:UnspecifiedMatching +OMIM:614496 pseudohypoaldosteronism, iia 2e skos:exactMatch MONDO:0013782 semapv:UnspecifiedMatching +OMIM:614497 microphthalmia, isolated, with coloboma 7 skos:exactMatch MONDO:0013783 semapv:UnspecifiedMatching +OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal skos:exactMatch MONDO:0013784 semapv:UnspecifiedMatching +OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly skos:exactMatch MONDO:0013785 semapv:UnspecifiedMatching +OMIM:614500 cone-rod dystrophy 16 skos:exactMatch MONDO:0013786 semapv:UnspecifiedMatching +OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures skos:exactMatch MONDO:0013787 semapv:UnspecifiedMatching +OMIM:614502 PIERCE1 skos:exactMatch hgnc.symbol:28435 semapv:UnspecifiedMatching +OMIM:614502 PIERCE1 skos:exactMatch hgnc.symbol:PIERCE1 semapv:UnspecifiedMatching +OMIM:614502 PIERCE1 skos:exactMatch ncbigene:138162 semapv:UnspecifiedMatching +OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:25573 semapv:UnspecifiedMatching +OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:KLHDC8A semapv:UnspecifiedMatching +OMIM:614503 KLHDC8A skos:exactMatch ncbigene:55220 semapv:UnspecifiedMatching +OMIM:614504 usher syndrome, iia 3b skos:exactMatch MONDO:0013788 semapv:UnspecifiedMatching +OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:18625 semapv:UnspecifiedMatching +OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:FKBP14 semapv:UnspecifiedMatching +OMIM:614505 FKBP14 skos:exactMatch ncbigene:55033 semapv:UnspecifiedMatching +OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:21701 semapv:UnspecifiedMatching +OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:BRAT1 semapv:UnspecifiedMatching +OMIM:614506 BRAT1 skos:exactMatch ncbigene:221927 semapv:UnspecifiedMatching +OMIM:614507 congenital disorder of glycosylation, iia ir skos:exactMatch MONDO:0013789 semapv:UnspecifiedMatching +OMIM:614508 mirror movements 2 skos:exactMatch MONDO:0013790 semapv:UnspecifiedMatching +OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:31650 semapv:UnspecifiedMatching +OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:MIR99A semapv:UnspecifiedMatching +OMIM:614509 MIR99A skos:exactMatch ncbigene:407055 semapv:UnspecifiedMatching +OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:31651 semapv:UnspecifiedMatching +OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:MIR99B semapv:UnspecifiedMatching +OMIM:614510 MIR99B skos:exactMatch ncbigene:407056 semapv:UnspecifiedMatching +OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:28870 semapv:UnspecifiedMatching +OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:MDFIC semapv:UnspecifiedMatching +OMIM:614511 MDFIC skos:exactMatch ncbigene:29969 semapv:UnspecifiedMatching +OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:29456 semapv:UnspecifiedMatching +OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:TOR1AIP1 semapv:UnspecifiedMatching +OMIM:614512 TOR1AIP1 skos:exactMatch ncbigene:26092 semapv:UnspecifiedMatching +OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:24055 semapv:UnspecifiedMatching +OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:TOR1AIP2 semapv:UnspecifiedMatching +OMIM:614513 TOR1AIP2 skos:exactMatch ncbigene:163590 semapv:UnspecifiedMatching +OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive skos:exactMatch MONDO:0013791 semapv:UnspecifiedMatching +OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:31371 semapv:UnspecifiedMatching +OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:GPR179 semapv:UnspecifiedMatching +OMIM:614515 GPR179 skos:exactMatch ncbigene:440435 semapv:UnspecifiedMatching +OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:29565 semapv:UnspecifiedMatching +OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:DOLPP1 semapv:UnspecifiedMatching +OMIM:614516 DOLPP1 skos:exactMatch ncbigene:57171 semapv:UnspecifiedMatching +OMIM:614517 BMAL2 skos:exactMatch hgnc.symbol:BMAL2 semapv:UnspecifiedMatching +OMIM:614517 BMAL2 skos:exactMatch ncbigene:56938 semapv:UnspecifiedMatching +OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:29941 semapv:UnspecifiedMatching +OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:GATAD1 semapv:UnspecifiedMatching +OMIM:614518 GATAD1 skos:exactMatch ncbigene:57798 semapv:UnspecifiedMatching +OMIM:614519 hemorrhage, intracerebral, susceptibility to skos:exactMatch MONDO:0100533 semapv:UnspecifiedMatching +OMIM:614520 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency skos:exactMatch MONDO:0013793 semapv:UnspecifiedMatching +OMIM:614521 thrombocythemia 3 skos:exactMatch MONDO:0013794 semapv:UnspecifiedMatching +OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:19360 semapv:UnspecifiedMatching +OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:KLHL12 semapv:UnspecifiedMatching +OMIM:614522 KLHL12 skos:exactMatch ncbigene:59349 semapv:UnspecifiedMatching +OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:32074 semapv:UnspecifiedMatching +OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:MIR489 semapv:UnspecifiedMatching +OMIM:614523 MIR489 skos:exactMatch ncbigene:574442 semapv:UnspecifiedMatching +OMIM:614524 fibrochondrogenesis 2 skos:exactMatch MONDO:0013795 semapv:UnspecifiedMatching +OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:25906 semapv:UnspecifiedMatching +OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:NFATC2IP semapv:UnspecifiedMatching +OMIM:614525 NFATC2IP skos:exactMatch ncbigene:84901 semapv:UnspecifiedMatching +OMIM:614526 chromosome 17q12 duplication syndrome skos:exactMatch MONDO:0013796 semapv:UnspecifiedMatching +OMIM:614527 chromosome 17q12 deletion syndrome skos:exactMatch MONDO:0013797 semapv:UnspecifiedMatching +OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:43014 semapv:UnspecifiedMatching +OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:HIF1A-AS1 semapv:UnspecifiedMatching +OMIM:614528 HIF1AAS1 skos:exactMatch ncbigene:100750246 semapv:UnspecifiedMatching +OMIM:614529 HIF1AAS2 skos:exactMatch hgnc.symbol:43015 semapv:UnspecifiedMatching +OMIM:614529 HIF1AAS2 skos:exactMatch hgnc.symbol:HIF1A-AS2 semapv:UnspecifiedMatching +OMIM:614529 HIF1AAS2 skos:exactMatch ncbigene:100750247 semapv:UnspecifiedMatching +OMIM:614530 NDUFA12 skos:exactMatch hgnc.symbol:23987 semapv:UnspecifiedMatching +OMIM:614530 NDUFA12 skos:exactMatch hgnc.symbol:NDUFA12 semapv:UnspecifiedMatching +OMIM:614530 NDUFA12 skos:exactMatch ncbigene:55967 semapv:UnspecifiedMatching +OMIM:614531 RASGEF1A skos:exactMatch hgnc.symbol:24246 semapv:UnspecifiedMatching +OMIM:614531 RASGEF1A skos:exactMatch hgnc.symbol:RASGEF1A semapv:UnspecifiedMatching +OMIM:614531 RASGEF1A skos:exactMatch ncbigene:221002 semapv:UnspecifiedMatching +OMIM:614532 RASGEF1B skos:exactMatch hgnc.symbol:24881 semapv:UnspecifiedMatching +OMIM:614532 RASGEF1B skos:exactMatch hgnc.symbol:RASGEF1B semapv:UnspecifiedMatching +OMIM:614532 RASGEF1B skos:exactMatch ncbigene:153020 semapv:UnspecifiedMatching +OMIM:614533 CDC26 skos:exactMatch hgnc.symbol:17839 semapv:UnspecifiedMatching +OMIM:614533 CDC26 skos:exactMatch hgnc.symbol:CDC26 semapv:UnspecifiedMatching +OMIM:614533 CDC26 skos:exactMatch ncbigene:246184 semapv:UnspecifiedMatching +OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:14452 semapv:UnspecifiedMatching +OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:ANAPC11 semapv:UnspecifiedMatching +OMIM:614534 ANAPC11 skos:exactMatch ncbigene:51529 semapv:UnspecifiedMatching +OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:26993 semapv:UnspecifiedMatching +OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:ZSWIM7 semapv:UnspecifiedMatching +OMIM:614535 ZSWIM7 skos:exactMatch ncbigene:125150 semapv:UnspecifiedMatching +OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:26638 semapv:UnspecifiedMatching +OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:SWSAP1 semapv:UnspecifiedMatching +OMIM:614536 SWSAP1 skos:exactMatch ncbigene:126074 semapv:UnspecifiedMatching +OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:23405 semapv:UnspecifiedMatching +OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:LRMDA semapv:UnspecifiedMatching +OMIM:614537 LRMDA skos:exactMatch ncbigene:83938 semapv:UnspecifiedMatching +OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:32826 semapv:UnspecifiedMatching +OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:MIR570 semapv:UnspecifiedMatching +OMIM:614538 MIR570 skos:exactMatch ncbigene:693155 semapv:UnspecifiedMatching +OMIM:614539 HELB skos:exactMatch hgnc.symbol:17196 semapv:UnspecifiedMatching +OMIM:614539 HELB skos:exactMatch hgnc.symbol:HELB semapv:UnspecifiedMatching +OMIM:614539 HELB skos:exactMatch ncbigene:92797 semapv:UnspecifiedMatching +OMIM:614541 chromosome 16q22 deletion syndrome skos:exactMatch MONDO:0013798 semapv:UnspecifiedMatching +OMIM:614542 DIPK1A skos:exactMatch hgnc.symbol:32213 semapv:UnspecifiedMatching +OMIM:614542 DIPK1A skos:exactMatch hgnc.symbol:DIPK1A semapv:UnspecifiedMatching +OMIM:614542 DIPK1A skos:exactMatch ncbigene:388650 semapv:UnspecifiedMatching +OMIM:614543 DIPK1B skos:exactMatch hgnc.symbol:28290 semapv:UnspecifiedMatching +OMIM:614543 DIPK1B skos:exactMatch hgnc.symbol:DIPK1B semapv:UnspecifiedMatching +OMIM:614543 DIPK1B skos:exactMatch ncbigene:138311 semapv:UnspecifiedMatching +OMIM:614544 DIPK1C skos:exactMatch hgnc.symbol:31729 semapv:UnspecifiedMatching +OMIM:614544 DIPK1C skos:exactMatch hgnc.symbol:DIPK1C semapv:UnspecifiedMatching +OMIM:614544 DIPK1C skos:exactMatch ncbigene:125704 semapv:UnspecifiedMatching +OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:27609 semapv:UnspecifiedMatching +OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:EMC10 semapv:UnspecifiedMatching +OMIM:614545 EMC10 skos:exactMatch ncbigene:284361 semapv:UnspecifiedMatching +OMIM:614546 efavirenz, poor metabolism of skos:exactMatch MONDO:0013799 semapv:UnspecifiedMatching +OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:31022 semapv:UnspecifiedMatching +OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:RAMAC semapv:UnspecifiedMatching +OMIM:614547 FAM103A1 skos:exactMatch ncbigene:83640 semapv:UnspecifiedMatching +OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:13464 semapv:UnspecifiedMatching +OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:SERINC1 semapv:UnspecifiedMatching +OMIM:614548 SERINC1 skos:exactMatch ncbigene:57515 semapv:UnspecifiedMatching +OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:23231 semapv:UnspecifiedMatching +OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:SERINC2 semapv:UnspecifiedMatching +OMIM:614549 SERINC2 skos:exactMatch ncbigene:347735 semapv:UnspecifiedMatching +OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:32237 semapv:UnspecifiedMatching +OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:SERINC4 semapv:UnspecifiedMatching +OMIM:614550 SERINC4 skos:exactMatch ncbigene:619189 semapv:UnspecifiedMatching +OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:18825 semapv:UnspecifiedMatching +OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:SERINC5 semapv:UnspecifiedMatching +OMIM:614551 SERINC5 skos:exactMatch ncbigene:256987 semapv:UnspecifiedMatching +OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:26639 semapv:UnspecifiedMatching +OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:XXYLT1 semapv:UnspecifiedMatching +OMIM:614552 XXYLT1 skos:exactMatch ncbigene:152002 semapv:UnspecifiedMatching +OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:16021 semapv:UnspecifiedMatching +OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:N6AMT1 semapv:UnspecifiedMatching +OMIM:614553 N6AMT1 skos:exactMatch ncbigene:29104 semapv:UnspecifiedMatching +OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:24563 semapv:UnspecifiedMatching +OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:FAM32A semapv:UnspecifiedMatching +OMIM:614554 FAM32A skos:exactMatch ncbigene:26017 semapv:UnspecifiedMatching +OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:19839 semapv:UnspecifiedMatching +OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:FRMD6 semapv:UnspecifiedMatching +OMIM:614555 FRMD6 skos:exactMatch ncbigene:122786 semapv:UnspecifiedMatching +OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:18040 semapv:UnspecifiedMatching +OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:ARID1B semapv:UnspecifiedMatching +OMIM:614556 ARID1B skos:exactMatch ncbigene:57492 semapv:UnspecifiedMatching +OMIM:614557 ehlers-danlos syndrome, kyphoscoliotic type, 2 skos:exactMatch MONDO:0013800 semapv:UnspecifiedMatching +OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch MONDO:0013801 semapv:UnspecifiedMatching +OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching +OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch MONDO:0013802 semapv:UnspecifiedMatching +OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 semapv:UnspecifiedMatching +OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch UMLS:C1428798 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:29140 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:MAU2 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch ncbigene:23383 semapv:UnspecifiedMatching +OMIM:614561 leukoencephalopathy, brain calcifications, and cysts skos:exactMatch MONDO:0013803 semapv:UnspecifiedMatching +OMIM:614563 cortical dysplasia, complex, with other brain malformations 13 skos:exactMatch MONDO:0013805 semapv:UnspecifiedMatching +OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch MONDO:0013806 semapv:UnspecifiedMatching +OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch Orphanet:313846 semapv:UnspecifiedMatching +OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching +OMIM:614565 night blindness, congenital stationary, iia 1e skos:exactMatch MONDO:0013807 semapv:UnspecifiedMatching +OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:30492 semapv:UnspecifiedMatching +OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:DNAAF3 semapv:UnspecifiedMatching +OMIM:614566 DNAAF3 skos:exactMatch ncbigene:352909 semapv:UnspecifiedMatching +OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:15480 semapv:UnspecifiedMatching +OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:DIAPH3 semapv:UnspecifiedMatching +OMIM:614567 DIAPH3 skos:exactMatch ncbigene:81624 semapv:UnspecifiedMatching +OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:23149 semapv:UnspecifiedMatching +OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:UNC13C semapv:UnspecifiedMatching +OMIM:614568 UNC13C skos:exactMatch ncbigene:440279 semapv:UnspecifiedMatching +OMIM:614569 multiple enchondromatosis, maffucci iia skos:exactMatch MONDO:0013808 semapv:UnspecifiedMatching +OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:27102 semapv:UnspecifiedMatching +OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:KIF18B semapv:UnspecifiedMatching +OMIM:614570 KIF18B skos:exactMatch ncbigene:146909 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2240273 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2745997 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch UMLS:C3553264 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:25801 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:CPLANE1 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch ncbigene:65250 semapv:UnspecifiedMatching +OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:30949 semapv:UnspecifiedMatching +OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:ZFP42 semapv:UnspecifiedMatching +OMIM:614572 ZFP42 skos:exactMatch ncbigene:132625 semapv:UnspecifiedMatching +OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:23689 semapv:UnspecifiedMatching +OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:GPR158 semapv:UnspecifiedMatching +OMIM:614573 GPR158 skos:exactMatch ncbigene:57512 semapv:UnspecifiedMatching +OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:29478 semapv:UnspecifiedMatching +OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:ROGDI semapv:UnspecifiedMatching +OMIM:614574 ROGDI skos:exactMatch ncbigene:79641 semapv:UnspecifiedMatching +OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch MONDO:0044720 semapv:UnspecifiedMatching +OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch Orphanet:504476 semapv:UnspecifiedMatching +OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching +OMIM:614576 congenital disorder of glycosylation, iia iil skos:exactMatch MONDO:0013810 semapv:UnspecifiedMatching +OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:30130 semapv:UnspecifiedMatching +OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:PAQR3 semapv:UnspecifiedMatching +OMIM:614577 PAQR3 skos:exactMatch ncbigene:152559 semapv:UnspecifiedMatching +OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:26386 semapv:UnspecifiedMatching +OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:PAQR4 semapv:UnspecifiedMatching +OMIM:614578 PAQR4 skos:exactMatch ncbigene:124222 semapv:UnspecifiedMatching +OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:30132 semapv:UnspecifiedMatching +OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:PAQR6 semapv:UnspecifiedMatching +OMIM:614579 PAQR6 skos:exactMatch ncbigene:79957 semapv:UnspecifiedMatching +OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:30131 semapv:UnspecifiedMatching +OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:PAQR9 semapv:UnspecifiedMatching +OMIM:614580 PAQR9 skos:exactMatch ncbigene:344838 semapv:UnspecifiedMatching +OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:30133 semapv:UnspecifiedMatching +OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:MMD2 semapv:UnspecifiedMatching +OMIM:614581 MMD2 skos:exactMatch ncbigene:221938 semapv:UnspecifiedMatching +OMIM:614582 combined oxidative phosphorylation deficiency 9 skos:exactMatch MONDO:0013811 semapv:UnspecifiedMatching +OMIM:614583 baraitser-winter syndrome 2 skos:exactMatch MONDO:0013812 semapv:UnspecifiedMatching +OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:28858 semapv:UnspecifiedMatching +OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:P4HTM semapv:UnspecifiedMatching +OMIM:614584 P4HTM skos:exactMatch ncbigene:54681 semapv:UnspecifiedMatching +OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:30546 semapv:UnspecifiedMatching +OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:FDX2 semapv:UnspecifiedMatching +OMIM:614585 FDX2 skos:exactMatch ncbigene:112812 semapv:UnspecifiedMatching +OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:18472 semapv:UnspecifiedMatching +OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:ZDHHC5 semapv:UnspecifiedMatching +OMIM:614586 ZDHHC5 skos:exactMatch ncbigene:25921 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch UMLS:C1824730 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:28680 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:CHAC1 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch ncbigene:79094 semapv:UnspecifiedMatching +OMIM:614588 dystonia 21 skos:exactMatch MONDO:0013813 semapv:UnspecifiedMatching +OMIM:614589 SKIC3 skos:exactMatch hgnc.symbol:SKIC3 semapv:UnspecifiedMatching +OMIM:614589 SKIC3 skos:exactMatch ncbigene:9652 semapv:UnspecifiedMatching +OMIM:614590 podoconiosis, susceptibility to skos:exactMatch MONDO:0013814 semapv:UnspecifiedMatching +OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:31948 semapv:UnspecifiedMatching +OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:CEACAM16 semapv:UnspecifiedMatching +OMIM:614591 CEACAM16 skos:exactMatch ncbigene:388551 semapv:UnspecifiedMatching +OMIM:614592 bent bone dysplasia syndrome 1 skos:exactMatch MONDO:0013815 semapv:UnspecifiedMatching +OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:29562 semapv:UnspecifiedMatching +OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:MARF1 semapv:UnspecifiedMatching +OMIM:614593 MARF1 skos:exactMatch ncbigene:9665 semapv:UnspecifiedMatching +OMIM:614594 olmsted syndrome 1 skos:exactMatch MONDO:0100296 semapv:UnspecifiedMatching +OMIM:614595 preeclampsia/eclampsia 5 skos:exactMatch MONDO:0013817 semapv:UnspecifiedMatching +OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:31623 semapv:UnspecifiedMatching +OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:MIR302A semapv:UnspecifiedMatching +OMIM:614596 MIR302A skos:exactMatch ncbigene:407028 semapv:UnspecifiedMatching +OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:31763 semapv:UnspecifiedMatching +OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:MIR302B semapv:UnspecifiedMatching +OMIM:614597 MIR302B skos:exactMatch ncbigene:442894 semapv:UnspecifiedMatching +OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:31764 semapv:UnspecifiedMatching +OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:MIR302C semapv:UnspecifiedMatching +OMIM:614598 MIR302C skos:exactMatch ncbigene:442895 semapv:UnspecifiedMatching +OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:31765 semapv:UnspecifiedMatching +OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:MIR302D semapv:UnspecifiedMatching +OMIM:614599 MIR302D skos:exactMatch ncbigene:442896 semapv:UnspecifiedMatching +OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:31781 semapv:UnspecifiedMatching +OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:MIR367 semapv:UnspecifiedMatching +OMIM:614600 MIR367 skos:exactMatch ncbigene:442912 semapv:UnspecifiedMatching +OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:14104 semapv:UnspecifiedMatching +OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:ZNF326 semapv:UnspecifiedMatching +OMIM:614601 ZNF326 skos:exactMatch ncbigene:284695 semapv:UnspecifiedMatching +OMIM:614602 trichohepatoenteric syndrome 2 skos:exactMatch MONDO:0013818 semapv:UnspecifiedMatching +OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:19714 semapv:UnspecifiedMatching +OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:DDHD1 semapv:UnspecifiedMatching +OMIM:614603 DDHD1 skos:exactMatch ncbigene:80821 semapv:UnspecifiedMatching +OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:18459 semapv:UnspecifiedMatching +OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:ZDHHC7 semapv:UnspecifiedMatching +OMIM:614604 ZDHHC7 skos:exactMatch ncbigene:55625 semapv:UnspecifiedMatching +OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:20750 semapv:UnspecifiedMatching +OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:ZDHHC21 semapv:UnspecifiedMatching +OMIM:614605 ZDHHC21 skos:exactMatch ncbigene:340481 semapv:UnspecifiedMatching +OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:23377 semapv:UnspecifiedMatching +OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:FOCAD semapv:UnspecifiedMatching +OMIM:614606 FOCAD skos:exactMatch ncbigene:54914 semapv:UnspecifiedMatching +OMIM:614607 coffin-siris syndrome 2 skos:exactMatch MONDO:0013819 semapv:UnspecifiedMatching +OMIM:614608 coffin-siris syndrome 3 skos:exactMatch MONDO:0013820 semapv:UnspecifiedMatching +OMIM:614609 coffin-siris syndrome 4 skos:exactMatch MONDO:0013821 semapv:UnspecifiedMatching +OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:29300 semapv:UnspecifiedMatching +OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:KANK2 semapv:UnspecifiedMatching +OMIM:614610 KANK2 skos:exactMatch ncbigene:25959 semapv:UnspecifiedMatching +OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:24796 semapv:UnspecifiedMatching +OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:KANK3 semapv:UnspecifiedMatching +OMIM:614611 KANK3 skos:exactMatch ncbigene:256949 semapv:UnspecifiedMatching +OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:27263 semapv:UnspecifiedMatching +OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:KANK4 semapv:UnspecifiedMatching +OMIM:614612 KANK4 skos:exactMatch ncbigene:163782 semapv:UnspecifiedMatching +OMIM:614613 acrodysostosis 2 with or without hormone resistance skos:exactMatch MONDO:0013822 semapv:UnspecifiedMatching +OMIM:614614 deafness, autosomal dominant 4b skos:exactMatch MONDO:0013823 semapv:UnspecifiedMatching +OMIM:614615 joubert syndrome 17 skos:exactMatch MONDO:0013824 semapv:UnspecifiedMatching +OMIM:614616 diarrhea 6 skos:exactMatch MONDO:0013825 semapv:UnspecifiedMatching +OMIM:614617 deafness, autosomal recessive 86 skos:exactMatch MONDO:0013826 semapv:UnspecifiedMatching +OMIM:614618 hyperekplexia 3 skos:exactMatch MONDO:0013827 semapv:UnspecifiedMatching +OMIM:614619 hyperekplexia 2 skos:exactMatch MONDO:0013828 semapv:UnspecifiedMatching +OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:29077 semapv:UnspecifiedMatching +OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:IFT140 semapv:UnspecifiedMatching +OMIM:614620 IFT140 skos:exactMatch ncbigene:9742 semapv:UnspecifiedMatching +OMIM:614621 uv-sensitive syndrome 2 skos:exactMatch MONDO:0013829 semapv:UnspecifiedMatching +OMIM:614622 keratoconus 5 skos:exactMatch MONDO:0013830 semapv:UnspecifiedMatching +OMIM:614623 keratoconus 6 skos:exactMatch MONDO:0013831 semapv:UnspecifiedMatching +OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:21721 semapv:UnspecifiedMatching +OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:MALSU1 semapv:UnspecifiedMatching +OMIM:614624 MALSU1 skos:exactMatch ncbigene:115416 semapv:UnspecifiedMatching +OMIM:614625 DANCR skos:exactMatch hgnc.symbol:28964 semapv:UnspecifiedMatching +OMIM:614625 DANCR skos:exactMatch hgnc.symbol:DANCR semapv:UnspecifiedMatching +OMIM:614625 DANCR skos:exactMatch ncbigene:57291 semapv:UnspecifiedMatching +OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:32616 semapv:UnspecifiedMatching +OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:SNORA26 semapv:UnspecifiedMatching +OMIM:614626 SNORA26 skos:exactMatch ncbigene:677810 semapv:UnspecifiedMatching +OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:41864 semapv:UnspecifiedMatching +OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:MIR4449 semapv:UnspecifiedMatching +OMIM:614627 MIR4449 skos:exactMatch ncbigene:100616436 semapv:UnspecifiedMatching +OMIM:614628 keratoconus 8 skos:exactMatch MONDO:0013832 semapv:UnspecifiedMatching +OMIM:614629 keratoconus 7 skos:exactMatch MONDO:0013833 semapv:UnspecifiedMatching +OMIM:614630 ADGB skos:exactMatch hgnc.symbol:21212 semapv:UnspecifiedMatching +OMIM:614630 ADGB skos:exactMatch hgnc.symbol:ADGB semapv:UnspecifiedMatching +OMIM:614630 ADGB skos:exactMatch ncbigene:79747 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch UMLS:C2829592 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:37276 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:CRPPA semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch ncbigene:729920 semapv:UnspecifiedMatching +OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:29304 semapv:UnspecifiedMatching +OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:UVSSA semapv:UnspecifiedMatching +OMIM:614632 UVSSA skos:exactMatch ncbigene:57654 semapv:UnspecifiedMatching +OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:18652 semapv:UnspecifiedMatching +OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:VPS54 semapv:UnspecifiedMatching +OMIM:614633 VPS54 skos:exactMatch ncbigene:51542 semapv:UnspecifiedMatching +OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:29264 semapv:UnspecifiedMatching +OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:CEP126 semapv:UnspecifiedMatching +OMIM:614634 CEP126 skos:exactMatch ncbigene:57562 semapv:UnspecifiedMatching +OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:43655 semapv:UnspecifiedMatching +OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:LINC00538 semapv:UnspecifiedMatching +OMIM:614635 LINC00538 skos:exactMatch ncbigene:100861504 semapv:UnspecifiedMatching +OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:13879 semapv:UnspecifiedMatching +OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:MYO1H semapv:UnspecifiedMatching +OMIM:614636 MYO1H skos:exactMatch ncbigene:283446 semapv:UnspecifiedMatching +OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:24577 semapv:UnspecifiedMatching +OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:DESI1 semapv:UnspecifiedMatching +OMIM:614637 DESI1 skos:exactMatch ncbigene:27351 semapv:UnspecifiedMatching +OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:24264 semapv:UnspecifiedMatching +OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:DESI2 semapv:UnspecifiedMatching +OMIM:614638 DESI2 skos:exactMatch ncbigene:51029 semapv:UnspecifiedMatching +OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:16094 semapv:UnspecifiedMatching +OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:ZBTB46 semapv:UnspecifiedMatching +OMIM:614639 ZBTB46 skos:exactMatch ncbigene:140685 semapv:UnspecifiedMatching +OMIM:614640 uv-sensitive syndrome 3 skos:exactMatch MONDO:0013834 semapv:UnspecifiedMatching +OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:16097 semapv:UnspecifiedMatching +OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:LAMP5 semapv:UnspecifiedMatching +OMIM:614641 LAMP5 skos:exactMatch ncbigene:24141 semapv:UnspecifiedMatching +OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:19162 semapv:UnspecifiedMatching +OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:STARD9 semapv:UnspecifiedMatching +OMIM:614642 STARD9 skos:exactMatch ncbigene:57519 semapv:UnspecifiedMatching +OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch MONDO:0013835 semapv:UnspecifiedMatching +OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching +OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:20233 semapv:UnspecifiedMatching +OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:COQ6 semapv:UnspecifiedMatching +OMIM:614647 COQ6 skos:exactMatch ncbigene:51004 semapv:UnspecifiedMatching +OMIM:614648 RALYL skos:exactMatch hgnc.symbol:27036 semapv:UnspecifiedMatching +OMIM:614648 RALYL skos:exactMatch hgnc.symbol:RALYL semapv:UnspecifiedMatching +OMIM:614648 RALYL skos:exactMatch ncbigene:138046 semapv:UnspecifiedMatching +OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:25358 semapv:UnspecifiedMatching +OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:RNF170 semapv:UnspecifiedMatching +OMIM:614649 RNF170 skos:exactMatch ncbigene:81790 semapv:UnspecifiedMatching +OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch MONDO:0013836 semapv:UnspecifiedMatching +OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching +OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch UMLS:C3553349 semapv:UnspecifiedMatching +OMIM:614651 coenzyme Q10 deficiency, primary, 2 skos:exactMatch MONDO:0013837 semapv:UnspecifiedMatching +OMIM:614652 coenzyme Q10 deficiency, primary, 3 skos:exactMatch MONDO:0013838 semapv:UnspecifiedMatching +OMIM:614653 neuropathy, hereditary sensory and autonomic, iia 6 skos:exactMatch MONDO:0013839 semapv:UnspecifiedMatching +OMIM:614654 coenzyme Q10 deficiency, primary, 5 skos:exactMatch MONDO:0013840 semapv:UnspecifiedMatching +OMIM:614655 stuttering, familial persistent, 3 skos:exactMatch MONDO:0013841 semapv:UnspecifiedMatching +OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:23530 semapv:UnspecifiedMatching +OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:PALD1 semapv:UnspecifiedMatching +OMIM:614656 PALD1 skos:exactMatch ncbigene:27143 semapv:UnspecifiedMatching +OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:17811 semapv:UnspecifiedMatching +OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:AMOTL1 semapv:UnspecifiedMatching +OMIM:614657 AMOTL1 skos:exactMatch ncbigene:154810 semapv:UnspecifiedMatching +OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:17812 semapv:UnspecifiedMatching +OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:AMOTL2 semapv:UnspecifiedMatching +OMIM:614658 AMOTL2 skos:exactMatch ncbigene:51421 semapv:UnspecifiedMatching +OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:26360 semapv:UnspecifiedMatching +OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:AMER2 semapv:UnspecifiedMatching +OMIM:614659 AMER2 skos:exactMatch ncbigene:219287 semapv:UnspecifiedMatching +OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:26721 semapv:UnspecifiedMatching +OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:PATL1 semapv:UnspecifiedMatching +OMIM:614660 PATL1 skos:exactMatch ncbigene:219988 semapv:UnspecifiedMatching +OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:33630 semapv:UnspecifiedMatching +OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:PATL2 semapv:UnspecifiedMatching +OMIM:614661 PATL2 skos:exactMatch ncbigene:197135 semapv:UnspecifiedMatching +OMIM:614662 cortisone reductase deficiency 2 skos:exactMatch MONDO:0013842 semapv:UnspecifiedMatching +OMIM:614663 RALY skos:exactMatch UMLS:C1423833 semapv:UnspecifiedMatching +OMIM:614663 RALY skos:exactMatch hgnc.symbol:15921 semapv:UnspecifiedMatching +OMIM:614663 RALY skos:exactMatch hgnc.symbol:RALY semapv:UnspecifiedMatching +OMIM:614663 RALY skos:exactMatch ncbigene:22913 semapv:UnspecifiedMatching +OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:30807 semapv:UnspecifiedMatching +OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:TREML4 semapv:UnspecifiedMatching +OMIM:614664 TREML4 skos:exactMatch ncbigene:285852 semapv:UnspecifiedMatching +OMIM:614665 meconium ileus skos:exactMatch MONDO:0013843 semapv:UnspecifiedMatching +OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:14153 semapv:UnspecifiedMatching +OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:CCDC78 semapv:UnspecifiedMatching +OMIM:614666 CCDC78 skos:exactMatch ncbigene:124093 semapv:UnspecifiedMatching +OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:19261 semapv:UnspecifiedMatching +OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:MTO1 semapv:UnspecifiedMatching +OMIM:614667 MTO1 skos:exactMatch ncbigene:25821 semapv:UnspecifiedMatching +OMIM:614668 stuttering, familial persistent, 4 skos:exactMatch MONDO:0013844 semapv:UnspecifiedMatching +OMIM:614669 auriculocondylar syndrome 2a skos:exactMatch MONDO:0013845 semapv:UnspecifiedMatching +OMIM:614670 peripartum cardiomyopathy, susceptibility to skos:exactMatch MONDO:0013846 semapv:UnspecifiedMatching +OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch MONDO:0013847 semapv:UnspecifiedMatching +OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching +OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553407 semapv:UnspecifiedMatching +OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553408 semapv:UnspecifiedMatching +OMIM:614672 cardiomyopathy, dilated, 2b skos:exactMatch MONDO:0013848 semapv:UnspecifiedMatching +OMIM:614673 microcephaly 8, primary, autosomal recessive skos:exactMatch MONDO:0013849 semapv:UnspecifiedMatching +OMIM:614674 periodic fever, menstrual cycle-dependent skos:exactMatch MONDO:0044660 semapv:UnspecifiedMatching +OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch MONDO:0013851 semapv:UnspecifiedMatching +OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching +OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch UMLS:C3808553 semapv:UnspecifiedMatching +OMIM:614676 cardiomyopathy, familial hypertrophic, 21 skos:exactMatch MONDO:0013852 semapv:UnspecifiedMatching +OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:32700 semapv:UnspecifiedMatching +OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:CCDC103 semapv:UnspecifiedMatching +OMIM:614677 CCDC103 skos:exactMatch ncbigene:388389 semapv:UnspecifiedMatching +OMIM:614678 pontocerebellar hypoplasia, iia 1b skos:exactMatch MONDO:0013853 semapv:UnspecifiedMatching +OMIM:614679 ciliary dyskinesia, primary, 17 skos:exactMatch MONDO:0013854 semapv:UnspecifiedMatching +OMIM:614680 influenza, severe, susceptibility to skos:exactMatch MONDO:0013855 semapv:UnspecifiedMatching +OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:34403 semapv:UnspecifiedMatching +OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:HYKK semapv:UnspecifiedMatching +OMIM:614681 AGPHD1 skos:exactMatch ncbigene:123688 semapv:UnspecifiedMatching +OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:14404 semapv:UnspecifiedMatching +OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:ETNPPL semapv:UnspecifiedMatching +OMIM:614682 AGXT2L1 skos:exactMatch ncbigene:64850 semapv:UnspecifiedMatching +OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:28249 semapv:UnspecifiedMatching +OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:PHYKPL semapv:UnspecifiedMatching +OMIM:614683 PHYKPL skos:exactMatch ncbigene:85007 semapv:UnspecifiedMatching +OMIM:614684 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes skos:exactMatch MONDO:0013856 semapv:UnspecifiedMatching +OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:26573 semapv:UnspecifiedMatching +OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:ZNF597 semapv:UnspecifiedMatching +OMIM:614685 ZNF597 skos:exactMatch ncbigene:146434 semapv:UnspecifiedMatching +OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:18789 semapv:UnspecifiedMatching +OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:FAM50B semapv:UnspecifiedMatching +OMIM:614686 FAM50B skos:exactMatch ncbigene:26240 semapv:UnspecifiedMatching +OMIM:614687 alar cleft, isolated skos:exactMatch MONDO:0013857 semapv:UnspecifiedMatching +OMIM:614688 pontine tegmental cap dysplasia skos:exactMatch MONDO:0013858 semapv:UnspecifiedMatching +OMIM:614690 C4ORF48 skos:exactMatch hgnc.symbol:NICOL1 semapv:UnspecifiedMatching +OMIM:614690 C4ORF48 skos:exactMatch ncbigene:401115 semapv:UnspecifiedMatching +OMIM:614691 cataract 38 skos:exactMatch MONDO:0013859 semapv:UnspecifiedMatching +OMIM:614692 membranous nephropathy, susceptibility to skos:exactMatch MONDO:0013860 semapv:UnspecifiedMatching +OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:29034 semapv:UnspecifiedMatching +OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:ATMIN semapv:UnspecifiedMatching +OMIM:614693 ATMIN skos:exactMatch ncbigene:23300 semapv:UnspecifiedMatching +OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:16209 semapv:UnspecifiedMatching +OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:RPRD1B semapv:UnspecifiedMatching +OMIM:614694 RPRD1B skos:exactMatch ncbigene:58490 semapv:UnspecifiedMatching +OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:29039 semapv:UnspecifiedMatching +OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:RPRD2 semapv:UnspecifiedMatching +OMIM:614695 RPRD2 skos:exactMatch ncbigene:23248 semapv:UnspecifiedMatching +OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:25387 semapv:UnspecifiedMatching +OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:KATNAL2 semapv:UnspecifiedMatching +OMIM:614697 KATNAL2 skos:exactMatch ncbigene:83473 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch UMLS:C3469918 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch hgnc.symbol:26970 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch hgnc.symbol:COX20 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch ncbigene:116228 semapv:UnspecifiedMatching +OMIM:614699 immunodeficiency, common variable, 7 skos:exactMatch MONDO:0013862 semapv:UnspecifiedMatching +OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity skos:exactMatch MONDO:0013863 semapv:UnspecifiedMatching +OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch MONDO:0013864 semapv:UnspecifiedMatching +OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching +OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch MONDO:0013865 semapv:UnspecifiedMatching +OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch Orphanet:314637 semapv:UnspecifiedMatching +OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch UMLS:C3553529 semapv:UnspecifiedMatching +OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:35237 semapv:UnspecifiedMatching +OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:SRGAP2B semapv:UnspecifiedMatching +OMIM:614703 SRGAP2B skos:exactMatch ncbigene:647135 semapv:UnspecifiedMatching +OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:30584 semapv:UnspecifiedMatching +OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:SRGAP2C semapv:UnspecifiedMatching +OMIM:614704 SRGAP2C skos:exactMatch ncbigene:653464 semapv:UnspecifiedMatching +OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:43932 semapv:UnspecifiedMatching +OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:SRGAP2D semapv:UnspecifiedMatching +OMIM:614705 SRGAP2D skos:exactMatch ncbigene:100996712 semapv:UnspecifiedMatching +OMIM:614706 ceroid lipofuscinosis, neuronal, 11 skos:exactMatch MONDO:0013866 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch MONDO:0013867 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:572550 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching +OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:13655 semapv:UnspecifiedMatching +OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:SCUBE3 semapv:UnspecifiedMatching +OMIM:614708 SCUBE3 skos:exactMatch ncbigene:222663 semapv:UnspecifiedMatching +OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:25074 semapv:UnspecifiedMatching +OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:LYRM1 semapv:UnspecifiedMatching +OMIM:614709 LYRM1 skos:exactMatch ncbigene:57149 semapv:UnspecifiedMatching +OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:24044 semapv:UnspecifiedMatching +OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:FAM72A semapv:UnspecifiedMatching +OMIM:614710 FAM72A skos:exactMatch ncbigene:729533 semapv:UnspecifiedMatching +OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:24805 semapv:UnspecifiedMatching +OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:FAM72B semapv:UnspecifiedMatching +OMIM:614711 FAM72B skos:exactMatch ncbigene:653820 semapv:UnspecifiedMatching +OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:33593 semapv:UnspecifiedMatching +OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:FAM72D semapv:UnspecifiedMatching +OMIM:614712 FAM72D skos:exactMatch ncbigene:728833 semapv:UnspecifiedMatching +OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:33984 semapv:UnspecifiedMatching +OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:RASSF10 semapv:UnspecifiedMatching +OMIM:614713 RASSF10 skos:exactMatch ncbigene:644943 semapv:UnspecifiedMatching +OMIM:614714 porokeratosis 7, multiple types skos:exactMatch MONDO:0013868 semapv:UnspecifiedMatching +OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:28324 semapv:UnspecifiedMatching +OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:TMIGD2 semapv:UnspecifiedMatching +OMIM:614715 TMIGD2 skos:exactMatch ncbigene:126259 semapv:UnspecifiedMatching +OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:20272 semapv:UnspecifiedMatching +OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:CARMIL3 semapv:UnspecifiedMatching +OMIM:614716 CARMIL3 skos:exactMatch ncbigene:90668 semapv:UnspecifiedMatching +OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:24531 semapv:UnspecifiedMatching +OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:ANAPC15 semapv:UnspecifiedMatching +OMIM:614717 ANAPC15 skos:exactMatch ncbigene:25906 semapv:UnspecifiedMatching +OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:30767 semapv:UnspecifiedMatching +OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:KNSTRN semapv:UnspecifiedMatching +OMIM:614718 KNSTRN skos:exactMatch ncbigene:90417 semapv:UnspecifiedMatching +OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:20589 semapv:UnspecifiedMatching +OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:KCMF1 semapv:UnspecifiedMatching +OMIM:614719 KCMF1 skos:exactMatch ncbigene:56888 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch UMLS:C1540298 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:19338 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:CDK19 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch ncbigene:23097 semapv:UnspecifiedMatching +OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:29367 semapv:UnspecifiedMatching +OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:TSPYL5 semapv:UnspecifiedMatching +OMIM:614721 TSPYL5 skos:exactMatch ncbigene:85453 semapv:UnspecifiedMatching +OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:38295 semapv:UnspecifiedMatching +OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:MIR3120 semapv:UnspecifiedMatching +OMIM:614722 MIR3120 skos:exactMatch ncbigene:100422882 semapv:UnspecifiedMatching +OMIM:614723 adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 semapv:UnspecifiedMatching +OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:25815 semapv:UnspecifiedMatching +OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:CEP63 semapv:UnspecifiedMatching +OMIM:614724 CEP63 skos:exactMatch ncbigene:80254 semapv:UnspecifiedMatching +OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:21061 semapv:UnspecifiedMatching +OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:SERAC1 semapv:UnspecifiedMatching +OMIM:614725 SERAC1 skos:exactMatch ncbigene:84947 semapv:UnspecifiedMatching +OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:30760 semapv:UnspecifiedMatching +OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:TMEM165 semapv:UnspecifiedMatching +OMIM:614726 TMEM165 skos:exactMatch ncbigene:55858 semapv:UnspecifiedMatching +OMIM:614727 congenital disorder of glycosylation, iia iik skos:exactMatch MONDO:0013870 semapv:UnspecifiedMatching +OMIM:614728 seckel syndrome 6 skos:exactMatch MONDO:0013871 semapv:UnspecifiedMatching +OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:21749 semapv:UnspecifiedMatching +OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:COPS6 semapv:UnspecifiedMatching +OMIM:614729 COPS6 skos:exactMatch ncbigene:10980 semapv:UnspecifiedMatching +OMIM:614730 PIGO skos:exactMatch hgnc.symbol:23215 semapv:UnspecifiedMatching +OMIM:614730 PIGO skos:exactMatch hgnc.symbol:PIGO semapv:UnspecifiedMatching +OMIM:614730 PIGO skos:exactMatch ncbigene:84720 semapv:UnspecifiedMatching +OMIM:614731 prostate cancer, hereditary, 2 skos:exactMatch MONDO:0013872 semapv:UnspecifiedMatching +OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies skos:exactMatch MONDO:0013873 semapv:UnspecifiedMatching +OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:31563 semapv:UnspecifiedMatching +OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:MIR193A semapv:UnspecifiedMatching +OMIM:614733 MIR193A skos:exactMatch ncbigene:406968 semapv:UnspecifiedMatching +OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:32087 semapv:UnspecifiedMatching +OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:MIR193B semapv:UnspecifiedMatching +OMIM:614734 MIR193B skos:exactMatch ncbigene:574455 semapv:UnspecifiedMatching +OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:33692 semapv:UnspecifiedMatching +OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:MIR365A semapv:UnspecifiedMatching +OMIM:614735 MIR365A skos:exactMatch ncbigene:100126355 semapv:UnspecifiedMatching +OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency skos:exactMatch MONDO:0013874 semapv:UnspecifiedMatching +OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:24515 semapv:UnspecifiedMatching +OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:MPC2 semapv:UnspecifiedMatching +OMIM:614737 MPC2 skos:exactMatch ncbigene:25874 semapv:UnspecifiedMatching +OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:21606 semapv:UnspecifiedMatching +OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:MPC1 semapv:UnspecifiedMatching +OMIM:614738 MPC1 skos:exactMatch ncbigene:51660 semapv:UnspecifiedMatching +OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome skos:exactMatch MONDO:0013875 semapv:UnspecifiedMatching +OMIM:614740 basal cell carcinoma, susceptibility to, 7 skos:exactMatch MONDO:0013876 semapv:UnspecifiedMatching +OMIM:614741 mitochondrial pyruvate carrier deficiency skos:exactMatch MONDO:0013877 semapv:UnspecifiedMatching +OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 skos:exactMatch MONDO:0013878 semapv:UnspecifiedMatching +OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 skos:exactMatch MONDO:0013879 semapv:UnspecifiedMatching +OMIM:614744 facial paresis, hereditary congenital, 3 skos:exactMatch MONDO:0013880 semapv:UnspecifiedMatching +OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch MONDO:0013881 semapv:UnspecifiedMatching +OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 skos:exactMatch MONDO:0013882 semapv:UnspecifiedMatching +OMIM:614750 myasthenic syndrome, congenital, 13 skos:exactMatch MONDO:0013883 semapv:UnspecifiedMatching +OMIM:614751 neuronopathy, distal hereditary motor, autosomal dominant 12 skos:exactMatch MONDO:0013884 semapv:UnspecifiedMatching +OMIM:614753 malan syndrome skos:exactMatch MONDO:0013885 semapv:UnspecifiedMatching +OMIM:614753 malan syndrome skos:exactMatch Orphanet:420179 semapv:UnspecifiedMatching +OMIM:614753 malan syndrome skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching +OMIM:614754 DMRT3 skos:exactMatch hgnc.symbol:13909 semapv:UnspecifiedMatching +OMIM:614754 DMRT3 skos:exactMatch hgnc.symbol:DMRT3 semapv:UnspecifiedMatching +OMIM:614754 DMRT3 skos:exactMatch ncbigene:58524 semapv:UnspecifiedMatching +OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:32125 semapv:UnspecifiedMatching +OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:MIR520H semapv:UnspecifiedMatching +OMIM:614755 MIR520H skos:exactMatch ncbigene:574493 semapv:UnspecifiedMatching +OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch MONDO:0013886 semapv:UnspecifiedMatching +OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch Orphanet:314647 semapv:UnspecifiedMatching +OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch UMLS:C3553661 semapv:UnspecifiedMatching +OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:16644 semapv:UnspecifiedMatching +OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:IFITM5 semapv:UnspecifiedMatching +OMIM:614757 IFITM5 skos:exactMatch ncbigene:387733 semapv:UnspecifiedMatching +OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:15518 semapv:UnspecifiedMatching +OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:DCTN4 semapv:UnspecifiedMatching +OMIM:614758 DCTN4 skos:exactMatch ncbigene:51164 semapv:UnspecifiedMatching +OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:26530 semapv:UnspecifiedMatching +OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:CFAP53 semapv:UnspecifiedMatching +OMIM:614759 CFAP53 skos:exactMatch ncbigene:220136 semapv:UnspecifiedMatching +OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:26001 semapv:UnspecifiedMatching +OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:SLC66A1 semapv:UnspecifiedMatching +OMIM:614760 SLC66A1 skos:exactMatch ncbigene:54896 semapv:UnspecifiedMatching +OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:30519 semapv:UnspecifiedMatching +OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:GLYATL1 semapv:UnspecifiedMatching +OMIM:614761 GLYATL1 skos:exactMatch ncbigene:92292 semapv:UnspecifiedMatching +OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:24178 semapv:UnspecifiedMatching +OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:GLYATL2 semapv:UnspecifiedMatching +OMIM:614762 GLYATL2 skos:exactMatch ncbigene:219970 semapv:UnspecifiedMatching +OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:21349 semapv:UnspecifiedMatching +OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:GLYATL3 semapv:UnspecifiedMatching +OMIM:614763 GLYATL3 skos:exactMatch ncbigene:389396 semapv:UnspecifiedMatching +OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:28361 semapv:UnspecifiedMatching +OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:KATNAL1 semapv:UnspecifiedMatching +OMIM:614764 KATNAL1 skos:exactMatch ncbigene:84056 semapv:UnspecifiedMatching +OMIM:614765 STRN skos:exactMatch hgnc.symbol:11424 semapv:UnspecifiedMatching +OMIM:614765 STRN skos:exactMatch hgnc.symbol:STRN semapv:UnspecifiedMatching +OMIM:614765 STRN skos:exactMatch ncbigene:6801 semapv:UnspecifiedMatching +OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:15720 semapv:UnspecifiedMatching +OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:STRN3 semapv:UnspecifiedMatching +OMIM:614766 STRN3 skos:exactMatch ncbigene:29966 semapv:UnspecifiedMatching +OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:15721 semapv:UnspecifiedMatching +OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:STRN4 semapv:UnspecifiedMatching +OMIM:614767 STRN4 skos:exactMatch ncbigene:29888 semapv:UnspecifiedMatching +OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:28789 semapv:UnspecifiedMatching +OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:SARAF semapv:UnspecifiedMatching +OMIM:614768 TMEM66 skos:exactMatch ncbigene:51669 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch UMLS:C1824229 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch hgnc.symbol:21868 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch hgnc.symbol:COA1 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch ncbigene:55744 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch UMLS:C3541664 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch hgnc.symbol:40038 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch hgnc.symbol:PET100 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch ncbigene:100131801 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch UMLS:C3471365 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch hgnc.symbol:40045 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch hgnc.symbol:PET117 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch ncbigene:100303755 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch UMLS:C1425251 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch hgnc.symbol:18025 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch hgnc.symbol:COA6 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch ncbigene:388753 semapv:UnspecifiedMatching +OMIM:614773 MSS51 skos:exactMatch UMLS:C3471123 semapv:UnspecifiedMatching +OMIM:614773 MSS51 skos:exactMatch hgnc.symbol:21000 semapv:UnspecifiedMatching +OMIM:614773 MSS51 skos:exactMatch hgnc.symbol:MSS51 semapv:UnspecifiedMatching +OMIM:614773 MSS51 skos:exactMatch ncbigene:118490 semapv:UnspecifiedMatching +OMIM:614774 PTCD1 skos:exactMatch hgnc.symbol:22198 semapv:UnspecifiedMatching +OMIM:614774 PTCD1 skos:exactMatch hgnc.symbol:PTCD1 semapv:UnspecifiedMatching +OMIM:614774 PTCD1 skos:exactMatch ncbigene:26024 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch UMLS:C1824580 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch hgnc.symbol:24990 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch hgnc.symbol:COA3 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch ncbigene:28958 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch UMLS:C2828701 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch UMLS:C4748455 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:29165 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:SIK3 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch ncbigene:23387 semapv:UnspecifiedMatching +OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:13824 semapv:UnspecifiedMatching +OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:MMS19 semapv:UnspecifiedMatching +OMIM:614777 MMS19 skos:exactMatch ncbigene:64210 semapv:UnspecifiedMatching +OMIM:614778 CIAO2B skos:exactMatch hgnc.symbol:24261 semapv:UnspecifiedMatching +OMIM:614778 CIAO2B skos:exactMatch hgnc.symbol:CIAO2B semapv:UnspecifiedMatching +OMIM:614778 CIAO2B skos:exactMatch ncbigene:51647 semapv:UnspecifiedMatching +OMIM:614779 heterotaxy, visceral, 6, autosomal skos:exactMatch MONDO:0013887 semapv:UnspecifiedMatching +OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:14974 semapv:UnspecifiedMatching +OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:SNX10 semapv:UnspecifiedMatching +OMIM:614780 SNX10 skos:exactMatch ncbigene:29887 semapv:UnspecifiedMatching +OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:22214 semapv:UnspecifiedMatching +OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:TECPR1 semapv:UnspecifiedMatching +OMIM:614781 TECPR1 skos:exactMatch ncbigene:25851 semapv:UnspecifiedMatching +OMIM:614782 tremor, hereditary essential, 4 skos:exactMatch MONDO:0013888 semapv:UnspecifiedMatching +OMIM:614783 POC1A skos:exactMatch hgnc.symbol:24488 semapv:UnspecifiedMatching +OMIM:614783 POC1A skos:exactMatch hgnc.symbol:POC1A semapv:UnspecifiedMatching +OMIM:614783 POC1A skos:exactMatch ncbigene:25886 semapv:UnspecifiedMatching +OMIM:614784 POC1B skos:exactMatch hgnc.symbol:30836 semapv:UnspecifiedMatching +OMIM:614784 POC1B skos:exactMatch hgnc.symbol:POC1B semapv:UnspecifiedMatching +OMIM:614784 POC1B skos:exactMatch ncbigene:282809 semapv:UnspecifiedMatching +OMIM:614785 MFF skos:exactMatch hgnc.symbol:24858 semapv:UnspecifiedMatching +OMIM:614785 MFF skos:exactMatch hgnc.symbol:MFF semapv:UnspecifiedMatching +OMIM:614785 MFF skos:exactMatch ncbigene:56947 semapv:UnspecifiedMatching +OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:33705 semapv:UnspecifiedMatching +OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:TMEM207 semapv:UnspecifiedMatching +OMIM:614786 TMEM207 skos:exactMatch ncbigene:131920 semapv:UnspecifiedMatching +OMIM:614787 POGZ skos:exactMatch hgnc.symbol:18801 semapv:UnspecifiedMatching +OMIM:614787 POGZ skos:exactMatch hgnc.symbol:POGZ semapv:UnspecifiedMatching +OMIM:614787 POGZ skos:exactMatch ncbigene:23126 semapv:UnspecifiedMatching +OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:19117 semapv:UnspecifiedMatching +OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:FGD5 semapv:UnspecifiedMatching +OMIM:614788 FGD5 skos:exactMatch ncbigene:152273 semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch UMLS:C1824159 semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch hgnc.symbol:28526 semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch hgnc.symbol:EOGT semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch ncbigene:285203 semapv:UnspecifiedMatching +OMIM:614790 WTIP skos:exactMatch hgnc.symbol:20964 semapv:UnspecifiedMatching +OMIM:614790 WTIP skos:exactMatch hgnc.symbol:WTIP semapv:UnspecifiedMatching +OMIM:614790 WTIP skos:exactMatch ncbigene:126374 semapv:UnspecifiedMatching +OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:31573 semapv:UnspecifiedMatching +OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:MIR199B semapv:UnspecifiedMatching +OMIM:614791 MIR199B skos:exactMatch ncbigene:406978 semapv:UnspecifiedMatching +OMIM:614792 TMUB1 skos:exactMatch hgnc.symbol:21709 semapv:UnspecifiedMatching +OMIM:614792 TMUB1 skos:exactMatch hgnc.symbol:TMUB1 semapv:UnspecifiedMatching +OMIM:614792 TMUB1 skos:exactMatch ncbigene:83590 semapv:UnspecifiedMatching +OMIM:614793 MAP3K21 skos:exactMatch hgnc.symbol:29798 semapv:UnspecifiedMatching +OMIM:614793 MAP3K21 skos:exactMatch hgnc.symbol:MAP3K21 semapv:UnspecifiedMatching +OMIM:614793 MAP3K21 skos:exactMatch ncbigene:84451 semapv:UnspecifiedMatching +OMIM:614794 AGPAT3 skos:exactMatch hgnc.symbol:326 semapv:UnspecifiedMatching +OMIM:614794 AGPAT3 skos:exactMatch hgnc.symbol:AGPAT3 semapv:UnspecifiedMatching +OMIM:614794 AGPAT3 skos:exactMatch ncbigene:56894 semapv:UnspecifiedMatching +OMIM:614795 AGPAT4 skos:exactMatch hgnc.symbol:20885 semapv:UnspecifiedMatching +OMIM:614795 AGPAT4 skos:exactMatch hgnc.symbol:AGPAT4 semapv:UnspecifiedMatching +OMIM:614795 AGPAT4 skos:exactMatch ncbigene:56895 semapv:UnspecifiedMatching +OMIM:614796 AGPAT5 skos:exactMatch hgnc.symbol:20886 semapv:UnspecifiedMatching +OMIM:614796 AGPAT5 skos:exactMatch hgnc.symbol:AGPAT5 semapv:UnspecifiedMatching +OMIM:614796 AGPAT5 skos:exactMatch ncbigene:55326 semapv:UnspecifiedMatching +OMIM:614797 PELI1 skos:exactMatch UMLS:C1418453 semapv:UnspecifiedMatching +OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:8827 semapv:UnspecifiedMatching +OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:PELI1 semapv:UnspecifiedMatching +OMIM:614797 PELI1 skos:exactMatch ncbigene:57162 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch UMLS:C1418454 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:8828 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:PELI2 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch ncbigene:57161 semapv:UnspecifiedMatching +OMIM:614799 AIRIM skos:exactMatch hgnc.symbol:AIRIM semapv:UnspecifiedMatching +OMIM:614799 AIRIM skos:exactMatch ncbigene:54955 semapv:UnspecifiedMatching +OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly skos:exactMatch MONDO:0013889 semapv:UnspecifiedMatching +OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:27905 semapv:UnspecifiedMatching +OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:MSL1 semapv:UnspecifiedMatching +OMIM:614801 MSL1 skos:exactMatch ncbigene:339287 semapv:UnspecifiedMatching +OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:25544 semapv:UnspecifiedMatching +OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:MSL2 semapv:UnspecifiedMatching +OMIM:614802 MSL2 skos:exactMatch ncbigene:55167 semapv:UnspecifiedMatching +OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:13826 semapv:UnspecifiedMatching +OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:DMRTA1 semapv:UnspecifiedMatching +OMIM:614803 DMRTA1 skos:exactMatch ncbigene:63951 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch UMLS:C1422262 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:13908 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:DMRTA2 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch ncbigene:63950 semapv:UnspecifiedMatching +OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:13913 semapv:UnspecifiedMatching +OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:DMRTB1 semapv:UnspecifiedMatching +OMIM:614805 DMRTB1 skos:exactMatch ncbigene:63948 semapv:UnspecifiedMatching +OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:13911 semapv:UnspecifiedMatching +OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:DMRTC2 semapv:UnspecifiedMatching +OMIM:614806 DMRTC2 skos:exactMatch ncbigene:63946 semapv:UnspecifiedMatching +OMIM:614807 myopathy, centronuclear, 4 skos:exactMatch MONDO:0013890 semapv:UnspecifiedMatching +OMIM:614808 amyotrophic lateral sclerosis 18 skos:exactMatch MONDO:0013891 semapv:UnspecifiedMatching +OMIM:614809 c3 glomerulopathy 3 skos:exactMatch MONDO:0013892 semapv:UnspecifiedMatching +OMIM:614810 multiple sclerosis, susceptibility to, 5 skos:exactMatch MONDO:0013893 semapv:UnspecifiedMatching +OMIM:614810 multiple sclerosis, susceptibility to, 5 skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching +OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:20488 semapv:UnspecifiedMatching +OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:L3HYPDH semapv:UnspecifiedMatching +OMIM:614811 L3HYPDH skos:exactMatch ncbigene:112849 semapv:UnspecifiedMatching +OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:29990 semapv:UnspecifiedMatching +OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:NUPR1 semapv:UnspecifiedMatching +OMIM:614812 NUPR1 skos:exactMatch ncbigene:26471 semapv:UnspecifiedMatching +OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis skos:exactMatch MONDO:0013894 semapv:UnspecifiedMatching +OMIM:614814 adams-oliver syndrome 3 skos:exactMatch MONDO:0013895 semapv:UnspecifiedMatching +OMIM:614815 joubert syndrome 18 skos:exactMatch MONDO:0013896 semapv:UnspecifiedMatching +OMIM:614816 loeys-dietz syndrome 4 skos:exactMatch MONDO:0013897 semapv:UnspecifiedMatching +OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch MONDO:0013898 semapv:UnspecifiedMatching +OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch Orphanet:401996 semapv:UnspecifiedMatching +OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch UMLS:C3553774 semapv:UnspecifiedMatching +OMIM:614818 FRY skos:exactMatch UMLS:C1825319 semapv:UnspecifiedMatching +OMIM:614818 FRY skos:exactMatch hgnc.symbol:20367 semapv:UnspecifiedMatching +OMIM:614818 FRY skos:exactMatch hgnc.symbol:FRY semapv:UnspecifiedMatching +OMIM:614818 FRY skos:exactMatch ncbigene:10129 semapv:UnspecifiedMatching +OMIM:614819 weill-marchesani syndrome 3 skos:exactMatch MONDO:0013899 semapv:UnspecifiedMatching +OMIM:614820 alternating hemiplegia of childhood 2 skos:exactMatch MONDO:0013900 semapv:UnspecifiedMatching +OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:43959 semapv:UnspecifiedMatching +OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:PTCSC3 semapv:UnspecifiedMatching +OMIM:614821 PTCSC3 skos:exactMatch ncbigene:100886964 semapv:UnspecifiedMatching +OMIM:614822 spermatogenic failure 10 skos:exactMatch MONDO:0013901 semapv:UnspecifiedMatching +OMIM:614823 aortic valve disease 2 skos:exactMatch MONDO:0013902 semapv:UnspecifiedMatching +OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:15875 semapv:UnspecifiedMatching +OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:AP5S1 semapv:UnspecifiedMatching +OMIM:614824 AP5S1 skos:exactMatch ncbigene:55317 semapv:UnspecifiedMatching +OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:15578 semapv:UnspecifiedMatching +OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:REPS1 semapv:UnspecifiedMatching +OMIM:614825 REPS1 skos:exactMatch ncbigene:85021 semapv:UnspecifiedMatching +OMIM:614826 nystagmus 7, congenital, autosomal dominant skos:exactMatch MONDO:0013903 semapv:UnspecifiedMatching +OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:25570 semapv:UnspecifiedMatching +OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:DNAJC11 semapv:UnspecifiedMatching +OMIM:614827 DNAJC11 skos:exactMatch ncbigene:55735 semapv:UnspecifiedMatching +OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:25902 semapv:UnspecifiedMatching +OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:POMGNT2 semapv:UnspecifiedMatching +OMIM:614828 POMGNT2 skos:exactMatch ncbigene:84892 semapv:UnspecifiedMatching +OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:26300 semapv:UnspecifiedMatching +OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:ODAPH semapv:UnspecifiedMatching +OMIM:614829 ODAPH skos:exactMatch ncbigene:152816 semapv:UnspecifiedMatching +OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 skos:exactMatch MONDO:0013904 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch MONDO:0013905 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:324262 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching +OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 skos:exactMatch MONDO:0013906 semapv:UnspecifiedMatching +OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures skos:exactMatch MONDO:0018764 semapv:UnspecifiedMatching +OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch MONDO:0013908 semapv:UnspecifiedMatching +OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:17780 semapv:UnspecifiedMatching +OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:ACTBL2 semapv:UnspecifiedMatching +OMIM:614835 ACTBL2 skos:exactMatch ncbigene:345651 semapv:UnspecifiedMatching +OMIM:614836 human herpesvirus 8, susceptibility to skos:exactMatch MONDO:0013909 semapv:UnspecifiedMatching +OMIM:614837 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch MONDO:0013910 semapv:UnspecifiedMatching +OMIM:614838 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch MONDO:0013911 semapv:UnspecifiedMatching +OMIM:614839 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch MONDO:0013912 semapv:UnspecifiedMatching +OMIM:614840 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch MONDO:0013913 semapv:UnspecifiedMatching +OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch MONDO:0013914 semapv:UnspecifiedMatching +OMIM:614842 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch MONDO:0013915 semapv:UnspecifiedMatching +OMIM:614843 ODAM skos:exactMatch hgnc.symbol:26043 semapv:UnspecifiedMatching +OMIM:614843 ODAM skos:exactMatch hgnc.symbol:ODAM semapv:UnspecifiedMatching +OMIM:614843 ODAM skos:exactMatch ncbigene:54959 semapv:UnspecifiedMatching +OMIM:614844 nephronophthisis 14 skos:exactMatch MONDO:0013916 semapv:UnspecifiedMatching +OMIM:614845 nephronophthisis 15 skos:exactMatch MONDO:0013917 semapv:UnspecifiedMatching +OMIM:614846 tetrasomy 15q26 skos:exactMatch MONDO:0013918 semapv:UnspecifiedMatching +OMIM:614847 epilepsy, idiopathic generalized, susceptibility to, 12 skos:exactMatch MONDO:0013919 semapv:UnspecifiedMatching +OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:29182 semapv:UnspecifiedMatching +OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:CEP164 semapv:UnspecifiedMatching +OMIM:614848 CEP164 skos:exactMatch ncbigene:22897 semapv:UnspecifiedMatching +OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 skos:exactMatch MONDO:0013920 semapv:UnspecifiedMatching +OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 skos:exactMatch MONDO:0013921 semapv:UnspecifiedMatching +OMIM:614851 seckel syndrome 7 skos:exactMatch MONDO:0013922 semapv:UnspecifiedMatching +OMIM:614852 microcephaly 9, primary, autosomal recessive skos:exactMatch MONDO:0013923 semapv:UnspecifiedMatching +OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:17177 semapv:UnspecifiedMatching +OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:CRLF3 semapv:UnspecifiedMatching +OMIM:614853 CRLF3 skos:exactMatch ncbigene:51379 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch UMLS:C1825904 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:28817 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:LRRC59 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch ncbigene:55379 semapv:UnspecifiedMatching +OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:29246 semapv:UnspecifiedMatching +OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:TBC1D14 semapv:UnspecifiedMatching +OMIM:614855 TBC1D14 skos:exactMatch ncbigene:57533 semapv:UnspecifiedMatching +OMIM:614856 osteogenesis imperfecta, iia 13 skos:exactMatch MONDO:0013924 semapv:UnspecifiedMatching +OMIM:614857 methylmalonic aciduria and homocystinuria, cblj iia skos:exactMatch MONDO:0013925 semapv:UnspecifiedMatching +OMIM:614858 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch MONDO:0013926 semapv:UnspecifiedMatching +OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) skos:exactMatch MONDO:0013927 semapv:UnspecifiedMatching +OMIM:614860 dystonia 23 skos:exactMatch MONDO:0013928 semapv:UnspecifiedMatching +OMIM:614860 dystonia 23 skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching +OMIM:614860 dystonia 23 skos:exactMatch UMLS:C3538999 semapv:UnspecifiedMatching +OMIM:614861 deafness, autosomal recessive 98 skos:exactMatch MONDO:0013929 semapv:UnspecifiedMatching +OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) skos:exactMatch MONDO:0013930 semapv:UnspecifiedMatching +OMIM:614863 peroxisome biogenesis disorder 4b skos:exactMatch MONDO:0013931 semapv:UnspecifiedMatching +OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:26013 semapv:UnspecifiedMatching +OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:DNAAF5 semapv:UnspecifiedMatching +OMIM:614864 DNAAF5 skos:exactMatch ncbigene:54919 semapv:UnspecifiedMatching +OMIM:614865 DBET skos:exactMatch hgnc.symbol:43904 semapv:UnspecifiedMatching +OMIM:614865 DBET skos:exactMatch hgnc.symbol:DBET semapv:UnspecifiedMatching +OMIM:614865 DBET skos:exactMatch ncbigene:100419743 semapv:UnspecifiedMatching +OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) skos:exactMatch MONDO:0013932 semapv:UnspecifiedMatching +OMIM:614867 peroxisome biogenesis disorder 5b skos:exactMatch MONDO:0013933 semapv:UnspecifiedMatching +OMIM:614868 immunodeficiency 110 with lymphoproliferation skos:exactMatch MONDO:0013934 semapv:UnspecifiedMatching +OMIM:614869 usher syndrome, iia 1j skos:exactMatch MONDO:0013935 semapv:UnspecifiedMatching +OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) skos:exactMatch MONDO:0013936 semapv:UnspecifiedMatching +OMIM:614871 peroxisome biogenesis disorder 6b skos:exactMatch MONDO:0013937 semapv:UnspecifiedMatching +OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) skos:exactMatch MONDO:0013938 semapv:UnspecifiedMatching +OMIM:614873 peroxisome biogenesis disorder 7b skos:exactMatch MONDO:0013939 semapv:UnspecifiedMatching +OMIM:614874 ciliary dyskinesia, primary, 18 skos:exactMatch MONDO:0013940 semapv:UnspecifiedMatching +OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria skos:exactMatch MONDO:0013941 semapv:UnspecifiedMatching +OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) skos:exactMatch MONDO:0013942 semapv:UnspecifiedMatching +OMIM:614877 peroxisome biogenesis disorder 8b skos:exactMatch MONDO:0013943 semapv:UnspecifiedMatching +OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch MONDO:0013944 semapv:UnspecifiedMatching +OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch Orphanet:324530 semapv:UnspecifiedMatching +OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching +OMIM:614879 peroxisome biogenesis disorder 9b skos:exactMatch MONDO:0013945 semapv:UnspecifiedMatching +OMIM:614880 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch MONDO:0013946 semapv:UnspecifiedMatching +OMIM:614881 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch MONDO:0013947 semapv:UnspecifiedMatching +OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) skos:exactMatch MONDO:0013948 semapv:UnspecifiedMatching +OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) skos:exactMatch MONDO:0013949 semapv:UnspecifiedMatching +OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:28385 semapv:UnspecifiedMatching +OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:VWA3B semapv:UnspecifiedMatching +OMIM:614884 VWA3B skos:exactMatch ncbigene:200403 semapv:UnspecifiedMatching +OMIM:614885 peroxisome biogenesis disorder 11b skos:exactMatch MONDO:0013950 semapv:UnspecifiedMatching +OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) skos:exactMatch MONDO:0013951 semapv:UnspecifiedMatching +OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) skos:exactMatch MONDO:0013952 semapv:UnspecifiedMatching +OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:25662 semapv:UnspecifiedMatching +OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:AAGAB semapv:UnspecifiedMatching +OMIM:614888 AAGAB skos:exactMatch ncbigene:79719 semapv:UnspecifiedMatching +OMIM:614889 immunodeficiency 28 skos:exactMatch MONDO:0013953 semapv:UnspecifiedMatching +OMIM:614889 immunodeficiency 28 skos:exactMatch Orphanet:319547 semapv:UnspecifiedMatching +OMIM:614889 immunodeficiency 28 skos:exactMatch Orphanet:319574 semapv:UnspecifiedMatching +OMIM:614889 immunodeficiency 28 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching +OMIM:614890 immunodeficiency 29 skos:exactMatch MONDO:0013954 semapv:UnspecifiedMatching +OMIM:614891 immunodeficiency 30 skos:exactMatch MONDO:0013955 semapv:UnspecifiedMatching +OMIM:614892 immunodeficiency 31a skos:exactMatch MONDO:0013956 semapv:UnspecifiedMatching +OMIM:614893 immunodeficiency 32a skos:exactMatch MONDO:0013957 semapv:UnspecifiedMatching +OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch MONDO:0013959 semapv:UnspecifiedMatching +OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch Orphanet:99952 semapv:UnspecifiedMatching +OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch UMLS:C3540453 semapv:UnspecifiedMatching +OMIM:614896 sinoatrial node dysfunction and deafness skos:exactMatch MONDO:0013960 semapv:UnspecifiedMatching +OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch MONDO:0013961 semapv:UnspecifiedMatching +OMIM:614898 spastic paraplegia 53, autosomal recessive skos:exactMatch MONDO:0013962 semapv:UnspecifiedMatching +OMIM:614899 deafness, autosomal recessive 93 skos:exactMatch MONDO:0013963 semapv:UnspecifiedMatching +OMIM:614900 diamond-blackfan anemia 11 skos:exactMatch MONDO:0013964 semapv:UnspecifiedMatching +OMIM:614901 BCKDK skos:exactMatch hgnc.symbol:16902 semapv:UnspecifiedMatching +OMIM:614901 BCKDK skos:exactMatch hgnc.symbol:BCKDK semapv:UnspecifiedMatching +OMIM:614901 BCKDK skos:exactMatch ncbigene:10295 semapv:UnspecifiedMatching +OMIM:614902 ARHGAP33 skos:exactMatch hgnc.symbol:23085 semapv:UnspecifiedMatching +OMIM:614902 ARHGAP33 skos:exactMatch hgnc.symbol:ARHGAP33 semapv:UnspecifiedMatching +OMIM:614902 ARHGAP33 skos:exactMatch ncbigene:115703 semapv:UnspecifiedMatching +OMIM:614903 SNX16 skos:exactMatch hgnc.symbol:14980 semapv:UnspecifiedMatching +OMIM:614903 SNX16 skos:exactMatch hgnc.symbol:SNX16 semapv:UnspecifiedMatching +OMIM:614903 SNX16 skos:exactMatch ncbigene:64089 semapv:UnspecifiedMatching +OMIM:614904 SNX7 skos:exactMatch hgnc.symbol:14971 semapv:UnspecifiedMatching +OMIM:614904 SNX7 skos:exactMatch hgnc.symbol:SNX7 semapv:UnspecifiedMatching +OMIM:614904 SNX7 skos:exactMatch ncbigene:51375 semapv:UnspecifiedMatching +OMIM:614905 SNX8 skos:exactMatch hgnc.symbol:14972 semapv:UnspecifiedMatching +OMIM:614905 SNX8 skos:exactMatch hgnc.symbol:SNX8 semapv:UnspecifiedMatching +OMIM:614905 SNX8 skos:exactMatch ncbigene:29886 semapv:UnspecifiedMatching +OMIM:614906 SNX11 skos:exactMatch hgnc.symbol:14975 semapv:UnspecifiedMatching +OMIM:614906 SNX11 skos:exactMatch hgnc.symbol:SNX11 semapv:UnspecifiedMatching +OMIM:614906 SNX11 skos:exactMatch ncbigene:29916 semapv:UnspecifiedMatching +OMIM:614907 PRPF39 skos:exactMatch hgnc.symbol:20314 semapv:UnspecifiedMatching +OMIM:614907 PRPF39 skos:exactMatch hgnc.symbol:PRPF39 semapv:UnspecifiedMatching +OMIM:614907 PRPF39 skos:exactMatch ncbigene:55015 semapv:UnspecifiedMatching +OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:26938 semapv:UnspecifiedMatching +OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:HIKESHI semapv:UnspecifiedMatching +OMIM:614908 HIKESHI skos:exactMatch ncbigene:51501 semapv:UnspecifiedMatching +OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:28187 semapv:UnspecifiedMatching +OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:TMEM174 semapv:UnspecifiedMatching +OMIM:614909 TMEM174 skos:exactMatch ncbigene:134288 semapv:UnspecifiedMatching +OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:14343 semapv:UnspecifiedMatching +OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:C1QTNF6 semapv:UnspecifiedMatching +OMIM:614910 C1QTNF6 skos:exactMatch ncbigene:114904 semapv:UnspecifiedMatching +OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:14346 semapv:UnspecifiedMatching +OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:C1QTNF4 semapv:UnspecifiedMatching +OMIM:614911 C1QTNF4 skos:exactMatch ncbigene:114900 semapv:UnspecifiedMatching +OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:27013 semapv:UnspecifiedMatching +OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:TRABD2A semapv:UnspecifiedMatching +OMIM:614912 TRABD2A skos:exactMatch ncbigene:129293 semapv:UnspecifiedMatching +OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:44200 semapv:UnspecifiedMatching +OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:TRABD2B semapv:UnspecifiedMatching +OMIM:614913 TRABD2B skos:exactMatch ncbigene:388630 semapv:UnspecifiedMatching +OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:33634 semapv:UnspecifiedMatching +OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:MIR298 semapv:UnspecifiedMatching +OMIM:614914 MIR298 skos:exactMatch ncbigene:100126296 semapv:UnspecifiedMatching +OMIM:614915 lethal congenital contracture syndrome 4 skos:exactMatch MONDO:0013965 semapv:UnspecifiedMatching +OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 skos:exactMatch MONDO:0013966 semapv:UnspecifiedMatching +OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:21176 semapv:UnspecifiedMatching +OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:RMND1 semapv:UnspecifiedMatching +OMIM:614917 RMND1 skos:exactMatch ncbigene:55005 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch UMLS:C1826731 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:24717 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:PTCD3 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch ncbigene:55037 semapv:UnspecifiedMatching +OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:28473 semapv:UnspecifiedMatching +OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:NOA1 semapv:UnspecifiedMatching +OMIM:614919 NOA1 skos:exactMatch ncbigene:84273 semapv:UnspecifiedMatching +OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch MONDO:0013967 semapv:UnspecifiedMatching +OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch Orphanet:44 semapv:UnspecifiedMatching +OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch Orphanet:772 semapv:UnspecifiedMatching +OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching +OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch MONDO:0013968 semapv:UnspecifiedMatching +OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch Orphanet:319646 semapv:UnspecifiedMatching +OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch UMLS:C2752015 semapv:UnspecifiedMatching +OMIM:614922 combined oxidative phosphorylation deficiency 11 skos:exactMatch MONDO:0013969 semapv:UnspecifiedMatching +OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch MONDO:0013970 semapv:UnspecifiedMatching +OMIM:614924 combined oxidative phosphorylation deficiency 12 skos:exactMatch MONDO:0013971 semapv:UnspecifiedMatching +OMIM:614925 OTOGL skos:exactMatch hgnc.symbol:26901 semapv:UnspecifiedMatching +OMIM:614925 OTOGL skos:exactMatch hgnc.symbol:OTOGL semapv:UnspecifiedMatching +OMIM:614925 OTOGL skos:exactMatch ncbigene:283310 semapv:UnspecifiedMatching +OMIM:614926 perrault syndrome 2 skos:exactMatch MONDO:0013972 semapv:UnspecifiedMatching +OMIM:614926 perrault syndrome 2 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching +OMIM:614926 perrault syndrome 2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching +OMIM:614927 ectodermal dysplasia 5, hair/nail iia skos:exactMatch MONDO:0013973 semapv:UnspecifiedMatching +OMIM:614928 ectodermal dysplasia 6, hair/nail iia skos:exactMatch MONDO:0013974 semapv:UnspecifiedMatching +OMIM:614929 ectodermal dysplasia 7, hair/nail iia skos:exactMatch MONDO:0013975 semapv:UnspecifiedMatching +OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:16725 semapv:UnspecifiedMatching +OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:DNAAF11 semapv:UnspecifiedMatching +OMIM:614930 LRRC6 skos:exactMatch ncbigene:23639 semapv:UnspecifiedMatching +OMIM:614931 ectodermal dysplasia 9, hair/nail iia skos:exactMatch MONDO:0013976 semapv:UnspecifiedMatching +OMIM:614932 combined oxidative phosphorylation deficiency 13 skos:exactMatch MONDO:0013977 semapv:UnspecifiedMatching +OMIM:614933 LINCMD1 skos:exactMatch hgnc.symbol:49089 semapv:UnspecifiedMatching +OMIM:614933 LINCMD1 skos:exactMatch hgnc.symbol:LINCMD1 semapv:UnspecifiedMatching +OMIM:614933 LINCMD1 skos:exactMatch ncbigene:101154644 semapv:UnspecifiedMatching +OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration skos:exactMatch MONDO:0013978 semapv:UnspecifiedMatching +OMIM:614935 ciliary dyskinesia, primary, 19 skos:exactMatch MONDO:0013979 semapv:UnspecifiedMatching +OMIM:614936 palmoplantar keratoderma, punctate iia 1b skos:exactMatch MONDO:0013980 semapv:UnspecifiedMatching +OMIM:614937 myoclonus, familial, 1 skos:exactMatch MONDO:0100093 semapv:UnspecifiedMatching +OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:37054 semapv:UnspecifiedMatching +OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:VTRNA2-1 semapv:UnspecifiedMatching +OMIM:614938 VTRNA2-1 skos:exactMatch ncbigene:100126299 semapv:UnspecifiedMatching +OMIM:614939 PGAM5 skos:exactMatch hgnc.symbol:28763 semapv:UnspecifiedMatching +OMIM:614939 PGAM5 skos:exactMatch hgnc.symbol:PGAM5 semapv:UnspecifiedMatching +OMIM:614939 PGAM5 skos:exactMatch ncbigene:192111 semapv:UnspecifiedMatching +OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch MONDO:0013982 semapv:UnspecifiedMatching +OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch MONDO:0013983 semapv:UnspecifiedMatching +OMIM:614942 PGS1 skos:exactMatch hgnc.symbol:30029 semapv:UnspecifiedMatching +OMIM:614942 PGS1 skos:exactMatch hgnc.symbol:PGS1 semapv:UnspecifiedMatching +OMIM:614942 PGS1 skos:exactMatch ncbigene:9489 semapv:UnspecifiedMatching +OMIM:614943 TRIAP1 skos:exactMatch hgnc.symbol:26937 semapv:UnspecifiedMatching +OMIM:614943 TRIAP1 skos:exactMatch hgnc.symbol:TRIAP1 semapv:UnspecifiedMatching +OMIM:614943 TRIAP1 skos:exactMatch ncbigene:51499 semapv:UnspecifiedMatching +OMIM:614944 deafness, autosomal recessive 84b skos:exactMatch MONDO:0013984 semapv:UnspecifiedMatching +OMIM:614945 deafness, autosomal recessive 18b skos:exactMatch MONDO:0013985 semapv:UnspecifiedMatching +OMIM:614946 combined oxidative phosphorylation deficiency 14 skos:exactMatch MONDO:0013986 semapv:UnspecifiedMatching +OMIM:614947 combined oxidative phosphorylation deficiency 15 skos:exactMatch MONDO:0013987 semapv:UnspecifiedMatching +OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:25187 semapv:UnspecifiedMatching +OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:TAMM41 semapv:UnspecifiedMatching +OMIM:614948 TAMM41 skos:exactMatch ncbigene:132001 semapv:UnspecifiedMatching +OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:37234 semapv:UnspecifiedMatching +OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:TMEM231 semapv:UnspecifiedMatching +OMIM:614949 TMEM231 skos:exactMatch ncbigene:79583 semapv:UnspecifiedMatching +OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:26623 semapv:UnspecifiedMatching +OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:TMEM17 semapv:UnspecifiedMatching +OMIM:614950 TMEM17 skos:exactMatch ncbigene:200728 semapv:UnspecifiedMatching +OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:26087 semapv:UnspecifiedMatching +OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:HEATR3 semapv:UnspecifiedMatching +OMIM:614951 HEATR3 skos:exactMatch ncbigene:55027 semapv:UnspecifiedMatching +OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:28286 semapv:UnspecifiedMatching +OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:SLFN5 semapv:UnspecifiedMatching +OMIM:614952 SLFN5 skos:exactMatch ncbigene:162394 semapv:UnspecifiedMatching +OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:26633 semapv:UnspecifiedMatching +OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:SLFN11 semapv:UnspecifiedMatching +OMIM:614953 SLFN11 skos:exactMatch ncbigene:91607 semapv:UnspecifiedMatching +OMIM:614954 congenital heart defects, multiple types, 3 skos:exactMatch MONDO:0013988 semapv:UnspecifiedMatching +OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:25500 semapv:UnspecifiedMatching +OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:SLFN12 semapv:UnspecifiedMatching +OMIM:614955 SLFN12 skos:exactMatch ncbigene:55106 semapv:UnspecifiedMatching +OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:33920 semapv:UnspecifiedMatching +OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:SLFN12L semapv:UnspecifiedMatching +OMIM:614956 SLFN12L skos:exactMatch ncbigene:100506736 semapv:UnspecifiedMatching +OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:26481 semapv:UnspecifiedMatching +OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:SLFN13 semapv:UnspecifiedMatching +OMIM:614957 SLFN13 skos:exactMatch ncbigene:146857 semapv:UnspecifiedMatching +OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:32689 semapv:UnspecifiedMatching +OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:SLFN14 semapv:UnspecifiedMatching +OMIM:614958 SLFN14 skos:exactMatch ncbigene:342618 semapv:UnspecifiedMatching +OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch MONDO:0013989 semapv:UnspecifiedMatching +OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching +OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:30447 semapv:UnspecifiedMatching +OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:PLD6 semapv:UnspecifiedMatching +OMIM:614960 PLD6 skos:exactMatch ncbigene:201164 semapv:UnspecifiedMatching +OMIM:614961 pontocerebellar hypoplasia, iia 8 skos:exactMatch MONDO:0013990 semapv:UnspecifiedMatching +OMIM:614962 leptin deficiency or dysfunction skos:exactMatch MONDO:0013991 semapv:UnspecifiedMatching +OMIM:614963 leptin receptor deficiency skos:exactMatch MONDO:0013992 semapv:UnspecifiedMatching +OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:33154 semapv:UnspecifiedMatching +OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:ELFN1 semapv:UnspecifiedMatching +OMIM:614964 ELFN1 skos:exactMatch ncbigene:392617 semapv:UnspecifiedMatching +OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:22192 semapv:UnspecifiedMatching +OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:SCRN1 semapv:UnspecifiedMatching +OMIM:614965 SCRN1 skos:exactMatch ncbigene:9805 semapv:UnspecifiedMatching +OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:30381 semapv:UnspecifiedMatching +OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:SCRN2 semapv:UnspecifiedMatching +OMIM:614966 SCRN2 skos:exactMatch ncbigene:90507 semapv:UnspecifiedMatching +OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:30382 semapv:UnspecifiedMatching +OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:SCRN3 semapv:UnspecifiedMatching +OMIM:614967 SCRN3 skos:exactMatch ncbigene:79634 semapv:UnspecifiedMatching +OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:26102 semapv:UnspecifiedMatching +OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:SH2D4A semapv:UnspecifiedMatching +OMIM:614968 SH2D4A skos:exactMatch ncbigene:63898 semapv:UnspecifiedMatching +OMIM:614969 pontocerebellar hypoplasia, iia 7 skos:exactMatch MONDO:0013993 semapv:UnspecifiedMatching +OMIM:614970 joubert syndrome 20 skos:exactMatch MONDO:0013994 semapv:UnspecifiedMatching +OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:26066 semapv:UnspecifiedMatching +OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:TUG1 semapv:UnspecifiedMatching +OMIM:614971 TUG1 skos:exactMatch ncbigene:55000 semapv:UnspecifiedMatching +OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 skos:exactMatch MONDO:0013995 semapv:UnspecifiedMatching +OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis iia skos:exactMatch MONDO:0013996 semapv:UnspecifiedMatching +OMIM:614974 focal facial dermal dysplasia 4 skos:exactMatch MONDO:0013997 semapv:UnspecifiedMatching +OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:43894 semapv:UnspecifiedMatching +OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:FENDRR semapv:UnspecifiedMatching +OMIM:614975 FENDRR skos:exactMatch ncbigene:400550 semapv:UnspecifiedMatching +OMIM:614976 carpenter syndrome 2 skos:exactMatch MONDO:0013998 semapv:UnspecifiedMatching +OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:49124 semapv:UnspecifiedMatching +OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:LINC01081 semapv:UnspecifiedMatching +OMIM:614977 LINC01081 skos:exactMatch ncbigene:101154687 semapv:UnspecifiedMatching +OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:49125 semapv:UnspecifiedMatching +OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:LINC01082 semapv:UnspecifiedMatching +OMIM:614978 LINC01082 skos:exactMatch ncbigene:100506542 semapv:UnspecifiedMatching +OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch MONDO:0013999 semapv:UnspecifiedMatching +OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch Orphanet:313800 semapv:UnspecifiedMatching +OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching +OMIM:614980 congenital heart defects, multiple types, 2 skos:exactMatch MONDO:0014000 semapv:UnspecifiedMatching +OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:871 semapv:UnspecifiedMatching +OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:ATP5IF1 semapv:UnspecifiedMatching +OMIM:614981 ATPIF1 skos:exactMatch ncbigene:93974 semapv:UnspecifiedMatching +OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:29090 semapv:UnspecifiedMatching +OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:SMCHD1 semapv:UnspecifiedMatching +OMIM:614982 SMCHD1 skos:exactMatch ncbigene:23347 semapv:UnspecifiedMatching +OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:25163 semapv:UnspecifiedMatching +OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:BATF2 semapv:UnspecifiedMatching +OMIM:614983 BATF2 skos:exactMatch ncbigene:116071 semapv:UnspecifiedMatching +OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:23537 semapv:UnspecifiedMatching +OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:DHTKD1 semapv:UnspecifiedMatching +OMIM:614984 DHTKD1 skos:exactMatch ncbigene:55526 semapv:UnspecifiedMatching +OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:43984 semapv:UnspecifiedMatching +OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:HELLPAR semapv:UnspecifiedMatching +OMIM:614985 HELLPAR skos:exactMatch ncbigene:101101692 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch UMLS:C1824522 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:24190 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:CAMK2N1 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch ncbigene:55450 semapv:UnspecifiedMatching +OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:21295 semapv:UnspecifiedMatching +OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:EPS8L1 semapv:UnspecifiedMatching +OMIM:614987 EPS8L1 skos:exactMatch ncbigene:54869 semapv:UnspecifiedMatching +OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:21296 semapv:UnspecifiedMatching +OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:EPS8L2 semapv:UnspecifiedMatching +OMIM:614988 EPS8L2 skos:exactMatch ncbigene:64787 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch UMLS:C1333349 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:21297 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:EPS8L3 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch ncbigene:79574 semapv:UnspecifiedMatching +OMIM:614990 usher syndrome, iia 1k skos:exactMatch MONDO:0014001 semapv:UnspecifiedMatching +OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:40600 semapv:UnspecifiedMatching +OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:UCHL1-DT semapv:UnspecifiedMatching +OMIM:614991 UCH1LAS skos:exactMatch ncbigene:101410542 semapv:UnspecifiedMatching +OMIM:614992 LINC00237 skos:exactMatch hgnc.symbol:38166 semapv:UnspecifiedMatching +OMIM:614992 LINC00237 skos:exactMatch hgnc.symbol:LINC00237 semapv:UnspecifiedMatching +OMIM:614992 LINC00237 skos:exactMatch ncbigene:105372556 semapv:UnspecifiedMatching +OMIM:614993 CAMKV skos:exactMatch hgnc.symbol:28788 semapv:UnspecifiedMatching +OMIM:614993 CAMKV skos:exactMatch hgnc.symbol:CAMKV semapv:UnspecifiedMatching +OMIM:614993 CAMKV skos:exactMatch ncbigene:79012 semapv:UnspecifiedMatching +OMIM:614994 CAMK1G skos:exactMatch hgnc.symbol:14585 semapv:UnspecifiedMatching +OMIM:614994 CAMK1G skos:exactMatch hgnc.symbol:CAMK1G semapv:UnspecifiedMatching +OMIM:614994 CAMK1G skos:exactMatch ncbigene:57172 semapv:UnspecifiedMatching +OMIM:614995 IL17RE skos:exactMatch hgnc.symbol:18439 semapv:UnspecifiedMatching +OMIM:614995 IL17RE skos:exactMatch hgnc.symbol:IL17RE semapv:UnspecifiedMatching +OMIM:614995 IL17RE skos:exactMatch ncbigene:132014 semapv:UnspecifiedMatching +OMIM:614996 MSE skos:exactMatch ncbigene:101180900 semapv:UnspecifiedMatching +OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:29989 semapv:UnspecifiedMatching +OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:GATAD2A semapv:UnspecifiedMatching +OMIM:614997 GATAD2A skos:exactMatch ncbigene:54815 semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch UMLS:C1539553 semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:30778 semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:GATAD2B semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch ncbigene:57459 semapv:UnspecifiedMatching +OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:20244 semapv:UnspecifiedMatching +OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:CYP4X1 semapv:UnspecifiedMatching +OMIM:614999 CYP4X1 skos:exactMatch ncbigene:260293 semapv:UnspecifiedMatching +OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:19957 semapv:UnspecifiedMatching +OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:TECPR2 semapv:UnspecifiedMatching +OMIM:615000 TECPR2 skos:exactMatch ncbigene:9895 semapv:UnspecifiedMatching +OMIM:615001 ZC3H12C skos:exactMatch hgnc.symbol:29362 semapv:UnspecifiedMatching +OMIM:615001 ZC3H12C skos:exactMatch hgnc.symbol:ZC3H12C semapv:UnspecifiedMatching +OMIM:615001 ZC3H12C skos:exactMatch ncbigene:85463 semapv:UnspecifiedMatching +OMIM:615002 CAMKK2 skos:exactMatch hgnc.symbol:1470 semapv:UnspecifiedMatching +OMIM:615002 CAMKK2 skos:exactMatch hgnc.symbol:CAMKK2 semapv:UnspecifiedMatching +OMIM:615002 CAMKK2 skos:exactMatch ncbigene:10645 semapv:UnspecifiedMatching +OMIM:615003 DDHD2 skos:exactMatch hgnc.symbol:29106 semapv:UnspecifiedMatching +OMIM:615003 DDHD2 skos:exactMatch hgnc.symbol:DDHD2 semapv:UnspecifiedMatching +OMIM:615003 DDHD2 skos:exactMatch ncbigene:23259 semapv:UnspecifiedMatching +OMIM:615004 LRIT3 skos:exactMatch hgnc.symbol:24783 semapv:UnspecifiedMatching +OMIM:615004 LRIT3 skos:exactMatch hgnc.symbol:LRIT3 semapv:UnspecifiedMatching +OMIM:615004 LRIT3 skos:exactMatch ncbigene:345193 semapv:UnspecifiedMatching +OMIM:615005 epilepsy, nocturnal frontal lobe, 5 skos:exactMatch MONDO:0014002 semapv:UnspecifiedMatching +OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch MONDO:0014003 semapv:UnspecifiedMatching +OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching +OMIM:615007 basal ganglia calcification, idiopathic, 4 skos:exactMatch MONDO:0014004 semapv:UnspecifiedMatching +OMIM:615008 nephrotic syndrome, iia 7 skos:exactMatch MONDO:0014005 semapv:UnspecifiedMatching +OMIM:615009 schuurs-hoeijmakers syndrome skos:exactMatch MONDO:0014006 semapv:UnspecifiedMatching +OMIM:615010 aicardi-goutieres syndrome 6 skos:exactMatch MONDO:0014007 semapv:UnspecifiedMatching +OMIM:615011 phosphohydroxylysinuria skos:exactMatch MONDO:0014008 semapv:UnspecifiedMatching +OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:4737 semapv:UnspecifiedMatching +OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:H2AC11 semapv:UnspecifiedMatching +OMIM:615012 HIST1H2AG skos:exactMatch ncbigene:8969 semapv:UnspecifiedMatching +OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:13671 semapv:UnspecifiedMatching +OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:H2AC12 semapv:UnspecifiedMatching +OMIM:615013 HIST1H2AH skos:exactMatch ncbigene:85235 semapv:UnspecifiedMatching +OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:20508 semapv:UnspecifiedMatching +OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:H2AC21 semapv:UnspecifiedMatching +OMIM:615014 HIST2H2AB skos:exactMatch ncbigene:317772 semapv:UnspecifiedMatching +OMIM:615015 HIST3H2A skos:exactMatch hgnc.symbol:H2AC25 semapv:UnspecifiedMatching +OMIM:615015 HIST3H2A skos:exactMatch ncbigene:92815 semapv:UnspecifiedMatching +OMIM:615016 OR2J3 skos:exactMatch hgnc.symbol:8261 semapv:UnspecifiedMatching +OMIM:615016 OR2J3 skos:exactMatch hgnc.symbol:OR2J3 semapv:UnspecifiedMatching +OMIM:615016 OR2J3 skos:exactMatch ncbigene:442186 semapv:UnspecifiedMatching +OMIM:615017 MIR139 skos:exactMatch hgnc.symbol:31526 semapv:UnspecifiedMatching +OMIM:615017 MIR139 skos:exactMatch hgnc.symbol:MIR139 semapv:UnspecifiedMatching +OMIM:615017 MIR139 skos:exactMatch ncbigene:406931 semapv:UnspecifiedMatching +OMIM:615019 ELP5 skos:exactMatch hgnc.symbol:30617 semapv:UnspecifiedMatching +OMIM:615019 ELP5 skos:exactMatch hgnc.symbol:ELP5 semapv:UnspecifiedMatching +OMIM:615019 ELP5 skos:exactMatch ncbigene:23587 semapv:UnspecifiedMatching +OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:25976 semapv:UnspecifiedMatching +OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:ELP6 semapv:UnspecifiedMatching +OMIM:615020 ELP6 skos:exactMatch ncbigene:54859 semapv:UnspecifiedMatching +OMIM:615022 ichthyosis, congenital, autosomal recessive 7 skos:exactMatch MONDO:0014009 semapv:UnspecifiedMatching +OMIM:615023 ichthyosis, congenital, autosomal recessive 9 skos:exactMatch MONDO:0014010 semapv:UnspecifiedMatching +OMIM:615024 ichthyosis, congenital, autosomal recessive 10 skos:exactMatch MONDO:0014011 semapv:UnspecifiedMatching +OMIM:615025 charcot-marie-tooth disease, axonal, iia 2q skos:exactMatch MONDO:0014012 semapv:UnspecifiedMatching +OMIM:615026 riboflavin deficiency skos:exactMatch MONDO:0004573 semapv:UnspecifiedMatching +OMIM:615027 SINHCAF skos:exactMatch hgnc.symbol:30702 semapv:UnspecifiedMatching +OMIM:615027 SINHCAF skos:exactMatch hgnc.symbol:SINHCAF semapv:UnspecifiedMatching +OMIM:615027 SINHCAF skos:exactMatch ncbigene:58516 semapv:UnspecifiedMatching +OMIM:615028 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch MONDO:0014014 semapv:UnspecifiedMatching +OMIM:615029 CBLN4 skos:exactMatch hgnc.symbol:16231 semapv:UnspecifiedMatching +OMIM:615029 CBLN4 skos:exactMatch hgnc.symbol:CBLN4 semapv:UnspecifiedMatching +OMIM:615029 CBLN4 skos:exactMatch ncbigene:140689 semapv:UnspecifiedMatching +OMIM:615030 spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum skos:exactMatch MONDO:0014015 semapv:UnspecifiedMatching +OMIM:615031 neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay skos:exactMatch MONDO:0014016 semapv:UnspecifiedMatching +OMIM:615032 intellectual developmental disorder with autism and macrocephaly skos:exactMatch MONDO:0014017 semapv:UnspecifiedMatching +OMIM:615032 intellectual developmental disorder with autism and macrocephaly skos:exactMatch UMLS:C3554373 semapv:UnspecifiedMatching +OMIM:615033 spastic paraplegia 54, autosomal recessive skos:exactMatch MONDO:0014018 semapv:UnspecifiedMatching +OMIM:615034 dystonia 24 skos:exactMatch MONDO:0014019 semapv:UnspecifiedMatching +OMIM:615035 spastic paraplegia 55, autosomal recessive skos:exactMatch MONDO:0014020 semapv:UnspecifiedMatching +OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:32065 semapv:UnspecifiedMatching +OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:MIR410 semapv:UnspecifiedMatching +OMIM:615036 MIR410 skos:exactMatch ncbigene:574434 semapv:UnspecifiedMatching +OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:32533 semapv:UnspecifiedMatching +OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:MIR487B semapv:UnspecifiedMatching +OMIM:615037 MIR487B skos:exactMatch ncbigene:664616 semapv:UnspecifiedMatching +OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:26560 semapv:UnspecifiedMatching +OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:ODAD1 semapv:UnspecifiedMatching +OMIM:615038 ODAD1 skos:exactMatch ncbigene:93233 semapv:UnspecifiedMatching +OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:20779 semapv:UnspecifiedMatching +OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:NDST4 semapv:UnspecifiedMatching +OMIM:615039 NDST4 skos:exactMatch ncbigene:64579 semapv:UnspecifiedMatching +OMIM:615040 episodic pain syndrome, familial, 1 skos:exactMatch MONDO:0014021 semapv:UnspecifiedMatching +OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 skos:exactMatch MONDO:0014022 semapv:UnspecifiedMatching +OMIM:615042 congenital disorder of glycosylation, iia iu skos:exactMatch MONDO:0014023 semapv:UnspecifiedMatching +OMIM:615043 spastic paraplegia 43, autosomal recessive skos:exactMatch MONDO:0014024 semapv:UnspecifiedMatching +OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:4761 semapv:UnspecifiedMatching +OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:H2BC11 semapv:UnspecifiedMatching +OMIM:615044 HIST1H2BJ skos:exactMatch ncbigene:8970 semapv:UnspecifiedMatching +OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:13954 semapv:UnspecifiedMatching +OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:H2BC12 semapv:UnspecifiedMatching +OMIM:615045 HIST1H2BK skos:exactMatch ncbigene:85236 semapv:UnspecifiedMatching +OMIM:615046 HIST3H2BB skos:exactMatch hgnc.symbol:H2BC26 semapv:UnspecifiedMatching +OMIM:615046 HIST3H2BB skos:exactMatch ncbigene:128312 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch UMLS:C1823227 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch UMLS:C5394588 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch UMLS:C5394589 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:30212 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:TANC2 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch ncbigene:26115 semapv:UnspecifiedMatching +OMIM:615048 spinal muscular atrophy, jokela iia skos:exactMatch MONDO:0014025 semapv:UnspecifiedMatching +OMIM:615049 WAC skos:exactMatch hgnc.symbol:17327 semapv:UnspecifiedMatching +OMIM:615049 WAC skos:exactMatch hgnc.symbol:WAC semapv:UnspecifiedMatching +OMIM:615049 WAC skos:exactMatch ncbigene:51322 semapv:UnspecifiedMatching +OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:17180 semapv:UnspecifiedMatching +OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:ASB5 semapv:UnspecifiedMatching +OMIM:615050 ASB5 skos:exactMatch ncbigene:140458 semapv:UnspecifiedMatching +OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:17181 semapv:UnspecifiedMatching +OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:ASB6 semapv:UnspecifiedMatching +OMIM:615051 ASB6 skos:exactMatch ncbigene:140459 semapv:UnspecifiedMatching +OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:17182 semapv:UnspecifiedMatching +OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:ASB7 semapv:UnspecifiedMatching +OMIM:615052 ASB7 skos:exactMatch ncbigene:140460 semapv:UnspecifiedMatching +OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:17183 semapv:UnspecifiedMatching +OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:ASB8 semapv:UnspecifiedMatching +OMIM:615053 ASB8 skos:exactMatch ncbigene:140461 semapv:UnspecifiedMatching +OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:17185 semapv:UnspecifiedMatching +OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:ASB10 semapv:UnspecifiedMatching +OMIM:615054 ASB10 skos:exactMatch ncbigene:136371 semapv:UnspecifiedMatching +OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:19765 semapv:UnspecifiedMatching +OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:ASB13 semapv:UnspecifiedMatching +OMIM:615055 ASB13 skos:exactMatch ncbigene:79754 semapv:UnspecifiedMatching +OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:19768 semapv:UnspecifiedMatching +OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:ASB16 semapv:UnspecifiedMatching +OMIM:615056 ASB16 skos:exactMatch ncbigene:92591 semapv:UnspecifiedMatching +OMIM:615057 skos:exactMatch MONDO:0017996 semapv:UnspecifiedMatching +OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch MONDO:0014026 semapv:UnspecifiedMatching +OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching +OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch UMLS:C3554399 semapv:UnspecifiedMatching +OMIM:615059 hypotrichosis 11 skos:exactMatch MONDO:0014027 semapv:UnspecifiedMatching +OMIM:615059 hypotrichosis 11 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching +OMIM:615059 hypotrichosis 11 skos:exactMatch UMLS:C3554409 semapv:UnspecifiedMatching +OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:18395 semapv:UnspecifiedMatching +OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:SCGB1D1 semapv:UnspecifiedMatching +OMIM:615060 SCGB1D1 skos:exactMatch ncbigene:10648 semapv:UnspecifiedMatching +OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:18396 semapv:UnspecifiedMatching +OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:SCGB1D2 semapv:UnspecifiedMatching +OMIM:615061 SCGB1D2 skos:exactMatch ncbigene:10647 semapv:UnspecifiedMatching +OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:31748 semapv:UnspecifiedMatching +OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:SCGB1D4 semapv:UnspecifiedMatching +OMIM:615062 SCGB1D4 skos:exactMatch ncbigene:404552 semapv:UnspecifiedMatching +OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:27616 semapv:UnspecifiedMatching +OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:SCGB2B2 semapv:UnspecifiedMatching +OMIM:615063 SCGB2B2 skos:exactMatch ncbigene:284402 semapv:UnspecifiedMatching +OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:20116 semapv:UnspecifiedMatching +OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:SLC25A29 semapv:UnspecifiedMatching +OMIM:615064 SLC25A29 skos:exactMatch ncbigene:123096 semapv:UnspecifiedMatching +OMIM:615065 arthrogryposis, distal, iia 5d skos:exactMatch MONDO:0014028 semapv:UnspecifiedMatching +OMIM:615066 osteogenesis imperfecta, iia 14 skos:exactMatch MONDO:0014029 semapv:UnspecifiedMatching +OMIM:615067 ciliary dyskinesia, primary, 20 skos:exactMatch MONDO:0014030 semapv:UnspecifiedMatching +OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:29331 semapv:UnspecifiedMatching +OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:EPG5 semapv:UnspecifiedMatching +OMIM:615068 EPG5 skos:exactMatch ncbigene:57724 semapv:UnspecifiedMatching +OMIM:615069 H4-16 skos:exactMatch hgnc.symbol:H4C16 semapv:UnspecifiedMatching +OMIM:615069 H4-16 skos:exactMatch ncbigene:121504 semapv:UnspecifiedMatching +OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:32846 semapv:UnspecifiedMatching +OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:MIR590 semapv:UnspecifiedMatching +OMIM:615070 MIR590 skos:exactMatch ncbigene:693175 semapv:UnspecifiedMatching +OMIM:615071 alazami syndrome skos:exactMatch MONDO:0014031 semapv:UnspecifiedMatching +OMIM:615071 alazami syndrome skos:exactMatch Orphanet:319671 semapv:UnspecifiedMatching +OMIM:615071 alazami syndrome skos:exactMatch UMLS:C3554439 semapv:UnspecifiedMatching +OMIM:615072 brachydactyly, iia a1, c skos:exactMatch MONDO:0014032 semapv:UnspecifiedMatching +OMIM:615073 dystonia 25 skos:exactMatch MONDO:0014033 semapv:UnspecifiedMatching +OMIM:615074 gand syndrome skos:exactMatch MONDO:0014034 semapv:UnspecifiedMatching +OMIM:615074 gand syndrome skos:exactMatch Orphanet:363686 semapv:UnspecifiedMatching +OMIM:615074 gand syndrome skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching +OMIM:615075 neurodevelopmental disorder with spastic diplegia and visual defects skos:exactMatch MONDO:0014035 semapv:UnspecifiedMatching +OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:16205 semapv:UnspecifiedMatching +OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:MGME1 semapv:UnspecifiedMatching +OMIM:615076 MGME1 skos:exactMatch ncbigene:92667 semapv:UnspecifiedMatching +OMIM:615077 TBC1D30 skos:exactMatch hgnc.symbol:29164 semapv:UnspecifiedMatching +OMIM:615077 TBC1D30 skos:exactMatch hgnc.symbol:TBC1D30 semapv:UnspecifiedMatching +OMIM:615077 TBC1D30 skos:exactMatch ncbigene:23329 semapv:UnspecifiedMatching +OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:20175 semapv:UnspecifiedMatching +OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:GOLT1B semapv:UnspecifiedMatching +OMIM:615078 GOLT1B skos:exactMatch ncbigene:51026 semapv:UnspecifiedMatching +OMIM:615079 ASUN skos:exactMatch hgnc.symbol:20174 semapv:UnspecifiedMatching +OMIM:615079 ASUN skos:exactMatch hgnc.symbol:INTS13 semapv:UnspecifiedMatching +OMIM:615079 ASUN skos:exactMatch ncbigene:55726 semapv:UnspecifiedMatching +OMIM:615080 alzheimer disease 17 skos:exactMatch MONDO:0014036 semapv:UnspecifiedMatching +OMIM:615081 spermatogenic failure 11 skos:exactMatch MONDO:0014037 semapv:UnspecifiedMatching +OMIM:615082 c3hex, ability to smell skos:exactMatch MONDO:0044281 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch MONDO:0014038 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch UMLS:C3554460 semapv:UnspecifiedMatching +OMIM:615084 mitochondrial DNA depletion syndrome 11 skos:exactMatch MONDO:0014039 semapv:UnspecifiedMatching +OMIM:615085 osteopetrosis, autosomal recessive 8 skos:exactMatch MONDO:0014040 semapv:UnspecifiedMatching +OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:26522 semapv:UnspecifiedMatching +OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:HARBI1 semapv:UnspecifiedMatching +OMIM:615086 HARBI1 skos:exactMatch ncbigene:283254 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch UMLS:C3146638 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:29091 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:ATG13 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch ncbigene:9776 semapv:UnspecifiedMatching +OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:25679 semapv:UnspecifiedMatching +OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:ATG101 semapv:UnspecifiedMatching +OMIM:615089 ATG101 skos:exactMatch ncbigene:60673 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch UMLS:C3541708 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:44480 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:IFNL4 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch ncbigene:101180976 semapv:UnspecifiedMatching +OMIM:615091 autism, susceptibility to, 19 skos:exactMatch MONDO:0014041 semapv:UnspecifiedMatching +OMIM:615092 left ventricular noncompaction 7 skos:exactMatch MONDO:0014042 semapv:UnspecifiedMatching +OMIM:615093 LY6K skos:exactMatch hgnc.symbol:24225 semapv:UnspecifiedMatching +OMIM:615093 LY6K skos:exactMatch hgnc.symbol:LY6K semapv:UnspecifiedMatching +OMIM:615093 LY6K skos:exactMatch ncbigene:54742 semapv:UnspecifiedMatching +OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:26715 semapv:UnspecifiedMatching +OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:PROX2 semapv:UnspecifiedMatching +OMIM:615094 PROX2 skos:exactMatch ncbigene:283571 semapv:UnspecifiedMatching +OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch MONDO:0014043 semapv:UnspecifiedMatching +OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch Orphanet:329228 semapv:UnspecifiedMatching +OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch UMLS:C3554499 semapv:UnspecifiedMatching +OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:31594 semapv:UnspecifiedMatching +OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:MIR217 semapv:UnspecifiedMatching +OMIM:615096 MIR217 skos:exactMatch ncbigene:406999 semapv:UnspecifiedMatching +OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:11046 semapv:UnspecifiedMatching +OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:SLC6A13 semapv:UnspecifiedMatching +OMIM:615097 SLC6A13 skos:exactMatch ncbigene:6540 semapv:UnspecifiedMatching +OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:29179 semapv:UnspecifiedMatching +OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:TTC28 semapv:UnspecifiedMatching +OMIM:615098 TTC28 skos:exactMatch ncbigene:23331 semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch UMLS:C2239422 semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch hgnc.symbol:26727 semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch hgnc.symbol:ERFE semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch ncbigene:151176 semapv:UnspecifiedMatching +OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:25330 semapv:UnspecifiedMatching +OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:CTTNBP2NL semapv:UnspecifiedMatching +OMIM:615100 CTTNBP2NL skos:exactMatch ncbigene:55917 semapv:UnspecifiedMatching +OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:12412 semapv:UnspecifiedMatching +OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:TUBB2A semapv:UnspecifiedMatching +OMIM:615101 TUBB2A skos:exactMatch ncbigene:7280 semapv:UnspecifiedMatching +OMIM:615102 tyshchenko syndrome skos:exactMatch MONDO:0014044 semapv:UnspecifiedMatching +OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:20776 semapv:UnspecifiedMatching +OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:TUBB6 semapv:UnspecifiedMatching +OMIM:615103 TUBB6 skos:exactMatch ncbigene:84617 semapv:UnspecifiedMatching +OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:29321 semapv:UnspecifiedMatching +OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:NCKAP5L semapv:UnspecifiedMatching +OMIM:615104 NCKAP5L skos:exactMatch ncbigene:57701 semapv:UnspecifiedMatching +OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:28469 semapv:UnspecifiedMatching +OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:MRI1 semapv:UnspecifiedMatching +OMIM:615105 MRI1 skos:exactMatch ncbigene:84245 semapv:UnspecifiedMatching +OMIM:615107 cowden syndrome 4 skos:exactMatch MONDO:0014046 semapv:UnspecifiedMatching +OMIM:615108 cowden syndrome 5 skos:exactMatch MONDO:0014047 semapv:UnspecifiedMatching +OMIM:615109 cowden syndrome 6 skos:exactMatch MONDO:0014048 semapv:UnspecifiedMatching +OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:28786 semapv:UnspecifiedMatching +OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:WDR53 semapv:UnspecifiedMatching +OMIM:615110 WDR53 skos:exactMatch ncbigene:348793 semapv:UnspecifiedMatching +OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:26192 semapv:UnspecifiedMatching +OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:DENND2D semapv:UnspecifiedMatching +OMIM:615111 DENND2D skos:exactMatch ncbigene:79961 semapv:UnspecifiedMatching +OMIM:615112 urofacial syndrome 2 skos:exactMatch MONDO:0014049 semapv:UnspecifiedMatching +OMIM:615113 microphthalmia, isolated 8 skos:exactMatch MONDO:0014050 semapv:UnspecifiedMatching +OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:28990 semapv:UnspecifiedMatching +OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:ZNF516 semapv:UnspecifiedMatching +OMIM:615114 ZNF516 skos:exactMatch ncbigene:9658 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch UMLS:C2239906 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch UMLS:C3809650 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:29357 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:ASXL3 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch ncbigene:80816 semapv:UnspecifiedMatching +OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:32429 semapv:UnspecifiedMatching +OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:SPEM1 semapv:UnspecifiedMatching +OMIM:615116 SPEM1 skos:exactMatch ncbigene:374768 semapv:UnspecifiedMatching +OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:28191 semapv:UnspecifiedMatching +OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:C2orf88 semapv:UnspecifiedMatching +OMIM:615117 C2ORF88 skos:exactMatch ncbigene:84281 semapv:UnspecifiedMatching +OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch MONDO:0014051 semapv:UnspecifiedMatching +OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching +OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching +OMIM:615120 myasthenic syndrome, congenital, 8 skos:exactMatch MONDO:0014052 semapv:UnspecifiedMatching +OMIM:615121 stomatin-like protein-2, hyperphosphorylation of skos:exactMatch MONDO:0014053 semapv:UnspecifiedMatching +OMIM:615122 lymphoproliferative syndrome 2 skos:exactMatch MONDO:0014054 semapv:UnspecifiedMatching +OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:21268 semapv:UnspecifiedMatching +OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:ANKRD13A semapv:UnspecifiedMatching +OMIM:615123 ANKRD13A skos:exactMatch ncbigene:88455 semapv:UnspecifiedMatching +OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:26363 semapv:UnspecifiedMatching +OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:ANKRD13B semapv:UnspecifiedMatching +OMIM:615124 ANKRD13B skos:exactMatch ncbigene:124930 semapv:UnspecifiedMatching +OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:25374 semapv:UnspecifiedMatching +OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:ANKRD13C semapv:UnspecifiedMatching +OMIM:615125 ANKRD13C skos:exactMatch ncbigene:81573 semapv:UnspecifiedMatching +OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:27880 semapv:UnspecifiedMatching +OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:ANKRD13D semapv:UnspecifiedMatching +OMIM:615126 ANKRD13D skos:exactMatch ncbigene:338692 semapv:UnspecifiedMatching +OMIM:615127 epilepsy, familial adult myoclonic, 4 skos:exactMatch MONDO:0014055 semapv:UnspecifiedMatching +OMIM:615128 CENPX skos:exactMatch hgnc.symbol:11422 semapv:UnspecifiedMatching +OMIM:615128 CENPX skos:exactMatch hgnc.symbol:CENPX semapv:UnspecifiedMatching +OMIM:615128 CENPX skos:exactMatch ncbigene:201254 semapv:UnspecifiedMatching +OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:4127 semapv:UnspecifiedMatching +OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:GALNT5 semapv:UnspecifiedMatching +OMIM:615129 GALNT5 skos:exactMatch ncbigene:11227 semapv:UnspecifiedMatching +OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:19875 semapv:UnspecifiedMatching +OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:GALNT11 semapv:UnspecifiedMatching +OMIM:615130 GALNT11 skos:exactMatch ncbigene:63917 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch UMLS:C1427591 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:21531 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:GALNT15 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch ncbigene:117248 semapv:UnspecifiedMatching +OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:23233 semapv:UnspecifiedMatching +OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:GALNT16 semapv:UnspecifiedMatching +OMIM:615132 GALNT16 skos:exactMatch ncbigene:57452 semapv:UnspecifiedMatching +OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:21725 semapv:UnspecifiedMatching +OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:GALNTL5 semapv:UnspecifiedMatching +OMIM:615133 GALNTL5 skos:exactMatch ncbigene:168391 semapv:UnspecifiedMatching +OMIM:615134 melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch MONDO:0014056 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch MONDO:0014057 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:511 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching +OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:30488 semapv:UnspecifiedMatching +OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:GALNT18 semapv:UnspecifiedMatching +OMIM:615136 GALNT18 skos:exactMatch ncbigene:374378 semapv:UnspecifiedMatching +OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:16347 semapv:UnspecifiedMatching +OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:GALNT17 semapv:UnspecifiedMatching +OMIM:615137 GALNT17 skos:exactMatch ncbigene:64409 semapv:UnspecifiedMatching +OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:33844 semapv:UnspecifiedMatching +OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:GALNTL6 semapv:UnspecifiedMatching +OMIM:615138 GALNTL6 skos:exactMatch ncbigene:442117 semapv:UnspecifiedMatching +OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature skos:exactMatch MONDO:0014058 semapv:UnspecifiedMatching +OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:29521 semapv:UnspecifiedMatching +OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:C12orf57 semapv:UnspecifiedMatching +OMIM:615140 C12ORF57 skos:exactMatch ncbigene:113246 semapv:UnspecifiedMatching +OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:29443 semapv:UnspecifiedMatching +OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:KIF2B semapv:UnspecifiedMatching +OMIM:615142 KIF2B skos:exactMatch ncbigene:84643 semapv:UnspecifiedMatching +OMIM:615143 USP20 skos:exactMatch hgnc.symbol:12619 semapv:UnspecifiedMatching +OMIM:615143 USP20 skos:exactMatch hgnc.symbol:USP20 semapv:UnspecifiedMatching +OMIM:615143 USP20 skos:exactMatch ncbigene:10868 semapv:UnspecifiedMatching +OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:30824 semapv:UnspecifiedMatching +OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:PRSS55 semapv:UnspecifiedMatching +OMIM:615144 PRSS55 skos:exactMatch ncbigene:203074 semapv:UnspecifiedMatching +OMIM:615145 microphthalmia, isolated, with coloboma 9 skos:exactMatch MONDO:0014059 semapv:UnspecifiedMatching +OMIM:615146 USP33 skos:exactMatch hgnc.symbol:20059 semapv:UnspecifiedMatching +OMIM:615146 USP33 skos:exactMatch hgnc.symbol:USP33 semapv:UnspecifiedMatching +OMIM:615146 USP33 skos:exactMatch ncbigene:23032 semapv:UnspecifiedMatching +OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome skos:exactMatch MONDO:0014060 semapv:UnspecifiedMatching +OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:32806 semapv:UnspecifiedMatching +OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:MIR551A semapv:UnspecifiedMatching +OMIM:615148 MIR551A skos:exactMatch ncbigene:693135 semapv:UnspecifiedMatching +OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:32085 semapv:UnspecifiedMatching +OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:MIR495 semapv:UnspecifiedMatching +OMIM:615149 MIR495 skos:exactMatch ncbigene:574453 semapv:UnspecifiedMatching +OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:31561 semapv:UnspecifiedMatching +OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:MIR191 semapv:UnspecifiedMatching +OMIM:615150 MIR191 skos:exactMatch ncbigene:406966 semapv:UnspecifiedMatching +OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:31626 semapv:UnspecifiedMatching +OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:MIR30C1 semapv:UnspecifiedMatching +OMIM:615151 MIR30C1 skos:exactMatch ncbigene:407031 semapv:UnspecifiedMatching +OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:22194 semapv:UnspecifiedMatching +OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:KLHDC10 semapv:UnspecifiedMatching +OMIM:615152 KLHDC10 skos:exactMatch ncbigene:23008 semapv:UnspecifiedMatching +OMIM:615153 MLKL skos:exactMatch hgnc.symbol:26617 semapv:UnspecifiedMatching +OMIM:615153 MLKL skos:exactMatch hgnc.symbol:MLKL semapv:UnspecifiedMatching +OMIM:615153 MLKL skos:exactMatch ncbigene:197259 semapv:UnspecifiedMatching +OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:23460 semapv:UnspecifiedMatching +OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:DYDC1 semapv:UnspecifiedMatching +OMIM:615154 DYDC1 skos:exactMatch ncbigene:143241 semapv:UnspecifiedMatching +OMIM:615155 steel syndrome skos:exactMatch MONDO:0014061 semapv:UnspecifiedMatching +OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 skos:exactMatch MONDO:0014062 semapv:UnspecifiedMatching +OMIM:615157 mitochondrial complex 3 deficiency, nuclear iia 2 skos:exactMatch MONDO:0014063 semapv:UnspecifiedMatching +OMIM:615158 mitochondrial complex 3 deficiency, nuclear iia 3 skos:exactMatch MONDO:0014064 semapv:UnspecifiedMatching +OMIM:615159 mitochondrial complex 3 deficiency, nuclear iia 4 skos:exactMatch MONDO:0014065 semapv:UnspecifiedMatching +OMIM:615160 mitochondrial complex 3 deficiency, nuclear iia 5 skos:exactMatch MONDO:0014066 semapv:UnspecifiedMatching +OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:4945 semapv:UnspecifiedMatching +OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:HLA-DQB2 semapv:UnspecifiedMatching +OMIM:615161 HLA-DQB2 skos:exactMatch ncbigene:3120 semapv:UnspecifiedMatching +OMIM:615162 intellectual developmental disorder, autosomal recessive 35 skos:exactMatch MONDO:0014067 semapv:UnspecifiedMatching +OMIM:615163 cone-rod dystrophy 17 skos:exactMatch MONDO:0014068 semapv:UnspecifiedMatching +OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:25744 semapv:UnspecifiedMatching +OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:AKIRIN1 semapv:UnspecifiedMatching +OMIM:615164 AKIRIN1 skos:exactMatch ncbigene:79647 semapv:UnspecifiedMatching +OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:21407 semapv:UnspecifiedMatching +OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:AKIRIN2 semapv:UnspecifiedMatching +OMIM:615165 AKIRIN2 skos:exactMatch ncbigene:55122 semapv:UnspecifiedMatching +OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:28783 semapv:UnspecifiedMatching +OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:CMC1 semapv:UnspecifiedMatching +OMIM:615166 CMC1 skos:exactMatch ncbigene:152100 semapv:UnspecifiedMatching +OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:21769 semapv:UnspecifiedMatching +OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:LRWD1 semapv:UnspecifiedMatching +OMIM:615167 LRWD1 skos:exactMatch ncbigene:222229 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch UMLS:C2239529 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:22231 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:AMZ1 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch ncbigene:155185 semapv:UnspecifiedMatching +OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:28041 semapv:UnspecifiedMatching +OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:AMZ2 semapv:UnspecifiedMatching +OMIM:615169 AMZ2 skos:exactMatch ncbigene:51321 semapv:UnspecifiedMatching +OMIM:615170 wahab syndrome skos:exactMatch MONDO:0014069 semapv:UnspecifiedMatching +OMIM:615171 loc100134040 gene skos:exactMatch ncbigene:100134040 semapv:UnspecifiedMatching +OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:30206 semapv:UnspecifiedMatching +OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:RNFT1 semapv:UnspecifiedMatching +OMIM:615172 RNFT1 skos:exactMatch ncbigene:51136 semapv:UnspecifiedMatching +OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:43773 semapv:UnspecifiedMatching +OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:LINC-ROR semapv:UnspecifiedMatching +OMIM:615173 LINC-ROR skos:exactMatch ncbigene:100885779 semapv:UnspecifiedMatching +OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:15547 semapv:UnspecifiedMatching +OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:TDH semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch UMLS:C1539464 semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:25295 semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:TLCD3B semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch ncbigene:83723 semapv:UnspecifiedMatching +OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:45091 semapv:UnspecifiedMatching +OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:NPTN-IT1 semapv:UnspecifiedMatching +OMIM:615176 NPTNIT1 skos:exactMatch ncbigene:101241892 semapv:UnspecifiedMatching +OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:21151 semapv:UnspecifiedMatching +OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:RNF126 semapv:UnspecifiedMatching +OMIM:615177 RNF126 skos:exactMatch ncbigene:55658 semapv:UnspecifiedMatching +OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:28420 semapv:UnspecifiedMatching +OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:KXD1 semapv:UnspecifiedMatching +OMIM:615178 KXD1 skos:exactMatch ncbigene:79036 semapv:UnspecifiedMatching +OMIM:615179 albinism, oculocutaneous, iia 7 skos:exactMatch MONDO:0014070 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch UMLS:C3469993 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:25010 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:TIMM21 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch ncbigene:29090 semapv:UnspecifiedMatching +OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 skos:exactMatch MONDO:0014071 semapv:UnspecifiedMatching +OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria skos:exactMatch MONDO:0014072 semapv:UnspecifiedMatching +OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:26428 semapv:UnspecifiedMatching +OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:FAAP20 semapv:UnspecifiedMatching +OMIM:615183 C1ORF86 skos:exactMatch ncbigene:199990 semapv:UnspecifiedMatching +OMIM:615184 cardiomyopathy, dilated, 1ii skos:exactMatch MONDO:0014073 semapv:UnspecifiedMatching +OMIM:615185 charcot-marie-tooth disease, dominant intermediate f skos:exactMatch MONDO:0014074 semapv:UnspecifiedMatching +OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:29322 semapv:UnspecifiedMatching +OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:CWC22 semapv:UnspecifiedMatching +OMIM:615186 CWC22 skos:exactMatch ncbigene:57703 semapv:UnspecifiedMatching +OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:17893 semapv:UnspecifiedMatching +OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:PGAP2 semapv:UnspecifiedMatching +OMIM:615187 PGAP2 skos:exactMatch ncbigene:27315 semapv:UnspecifiedMatching +OMIM:615188 cataract 39, multiple types skos:exactMatch MONDO:0014075 semapv:UnspecifiedMatching +OMIM:615188 cataract 39, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:615188 cataract 39, multiple types skos:exactMatch UMLS:C3808800 semapv:UnspecifiedMatching +OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:25681 semapv:UnspecifiedMatching +OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:ANKRD55 semapv:UnspecifiedMatching +OMIM:615189 ANKRD55 skos:exactMatch ncbigene:79722 semapv:UnspecifiedMatching +OMIM:615190 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch MONDO:0014076 semapv:UnspecifiedMatching +OMIM:615191 lissencephaly 5 skos:exactMatch MONDO:0014077 semapv:UnspecifiedMatching +OMIM:615193 bleeding disorder, platelet-type, 15 skos:exactMatch MONDO:0014078 semapv:UnspecifiedMatching +OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:18349 semapv:UnspecifiedMatching +OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:DHRS2 semapv:UnspecifiedMatching +OMIM:615194 DHRS2 skos:exactMatch ncbigene:10202 semapv:UnspecifiedMatching +OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:19732 semapv:UnspecifiedMatching +OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:DHRS4L1 semapv:UnspecifiedMatching +OMIM:615195 DHRS4L1 skos:exactMatch ncbigene:728635 semapv:UnspecifiedMatching +OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:19731 semapv:UnspecifiedMatching +OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:DHRS4L2 semapv:UnspecifiedMatching +OMIM:615196 DHRS4L2 skos:exactMatch ncbigene:317749 semapv:UnspecifiedMatching +OMIM:615197 restless legs syndrome, susceptibility to, 8 skos:exactMatch MONDO:0014079 semapv:UnspecifiedMatching +OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch MONDO:0014080 semapv:UnspecifiedMatching +OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching +OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch UMLS:C3554665 semapv:UnspecifiedMatching +OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:15546 semapv:UnspecifiedMatching +OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:SLC35G5 semapv:UnspecifiedMatching +OMIM:615199 SLC35G5 skos:exactMatch ncbigene:83650 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch UMLS:C1427120 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:20764 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:PLEKHF1 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch ncbigene:79156 semapv:UnspecifiedMatching +OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:35393 semapv:UnspecifiedMatching +OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:MIR1909 semapv:UnspecifiedMatching +OMIM:615201 MIR1909 skos:exactMatch ncbigene:100302210 semapv:UnspecifiedMatching +OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:35399 semapv:UnspecifiedMatching +OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:MIR1915 semapv:UnspecifiedMatching +OMIM:615202 MIR1915 skos:exactMatch ncbigene:100302129 semapv:UnspecifiedMatching +OMIM:615203 RHBDD2 skos:exactMatch hgnc.symbol:23082 semapv:UnspecifiedMatching +OMIM:615203 RHBDD2 skos:exactMatch hgnc.symbol:RHBDD2 semapv:UnspecifiedMatching +OMIM:615203 RHBDD2 skos:exactMatch ncbigene:57414 semapv:UnspecifiedMatching +OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:30889 semapv:UnspecifiedMatching +OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:ATP5MK semapv:UnspecifiedMatching +OMIM:615204 ATP5MD skos:exactMatch ncbigene:84833 semapv:UnspecifiedMatching +OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:27200 semapv:UnspecifiedMatching +OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:SPINK13 semapv:UnspecifiedMatching +OMIM:615205 SPINK13 skos:exactMatch ncbigene:153218 semapv:UnspecifiedMatching +OMIM:615206 immunodeficiency 11a skos:exactMatch MONDO:0014081 semapv:UnspecifiedMatching +OMIM:615207 immunodeficiency 56 skos:exactMatch MONDO:0014082 semapv:UnspecifiedMatching +OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:20757 semapv:UnspecifiedMatching +OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:PLEKHF2 semapv:UnspecifiedMatching +OMIM:615208 PLEKHF2 skos:exactMatch ncbigene:79666 semapv:UnspecifiedMatching +OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:31536 semapv:UnspecifiedMatching +OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:MIR149 semapv:UnspecifiedMatching +OMIM:615209 MIR149 skos:exactMatch ncbigene:406941 semapv:UnspecifiedMatching +OMIM:615210 PCNP skos:exactMatch hgnc.symbol:30023 semapv:UnspecifiedMatching +OMIM:615210 PCNP skos:exactMatch hgnc.symbol:PCNP semapv:UnspecifiedMatching +OMIM:615210 PCNP skos:exactMatch ncbigene:57092 semapv:UnspecifiedMatching +OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:12557 semapv:UnspecifiedMatching +OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:UHRF2 semapv:UnspecifiedMatching +OMIM:615211 UHRF2 skos:exactMatch ncbigene:115426 semapv:UnspecifiedMatching +OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:27005 semapv:UnspecifiedMatching +OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:LRRC38 semapv:UnspecifiedMatching +OMIM:615212 LRRC38 skos:exactMatch ncbigene:126755 semapv:UnspecifiedMatching +OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:32324 semapv:UnspecifiedMatching +OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:LRRC55 semapv:UnspecifiedMatching +OMIM:615213 LRRC55 skos:exactMatch ncbigene:219527 semapv:UnspecifiedMatching +OMIM:615214 agammaglobulinemia 7, autosomal recessive skos:exactMatch MONDO:0014083 semapv:UnspecifiedMatching +OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:18867 semapv:UnspecifiedMatching +OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:KCNU1 semapv:UnspecifiedMatching +OMIM:615215 KCNU1 skos:exactMatch ncbigene:157855 semapv:UnspecifiedMatching +OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:29530 semapv:UnspecifiedMatching +OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:KIFC2 semapv:UnspecifiedMatching +OMIM:615216 KIFC2 skos:exactMatch ncbigene:90990 semapv:UnspecifiedMatching +OMIM:615217 ataxia-oculomotor apraxia 3 skos:exactMatch MONDO:0014084 semapv:UnspecifiedMatching +OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:32156 semapv:UnspecifiedMatching +OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:LRRC52 semapv:UnspecifiedMatching +OMIM:615218 LRRC52 skos:exactMatch ncbigene:440699 semapv:UnspecifiedMatching +OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies skos:exactMatch MONDO:0014085 semapv:UnspecifiedMatching +OMIM:615220 osteogenesis imperfecta, iia 15 skos:exactMatch MONDO:0014086 semapv:UnspecifiedMatching +OMIM:615222 smith-mccort dysplasia 2 skos:exactMatch MONDO:0014087 semapv:UnspecifiedMatching +OMIM:615223 IFNE skos:exactMatch hgnc.symbol:18163 semapv:UnspecifiedMatching +OMIM:615223 IFNE skos:exactMatch hgnc.symbol:IFNE semapv:UnspecifiedMatching +OMIM:615223 IFNE skos:exactMatch ncbigene:338376 semapv:UnspecifiedMatching +OMIM:615224 advanced sleep phase syndrome, familial, 2 skos:exactMatch MONDO:0014088 semapv:UnspecifiedMatching +OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch MONDO:0014089 semapv:UnspecifiedMatching +OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch Orphanet:352662 semapv:UnspecifiedMatching +OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching +OMIM:615226 polydactyly, postaxial, iia a6 skos:exactMatch MONDO:0014090 semapv:UnspecifiedMatching +OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:19359 semapv:UnspecifiedMatching +OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:C1QL3 semapv:UnspecifiedMatching +OMIM:615227 C1QL3 skos:exactMatch ncbigene:389941 semapv:UnspecifiedMatching +OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch MONDO:0014091 semapv:UnspecifiedMatching +OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching +OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching +OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:31416 semapv:UnspecifiedMatching +OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:C1QL4 semapv:UnspecifiedMatching +OMIM:615229 C1QL4 skos:exactMatch ncbigene:338761 semapv:UnspecifiedMatching +OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:49123 semapv:UnspecifiedMatching +OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:LINC01080 semapv:UnspecifiedMatching +OMIM:615230 LINC01080 skos:exactMatch ncbigene:101515984 semapv:UnspecifiedMatching +OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:21461 semapv:UnspecifiedMatching +OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:RC3H2 semapv:UnspecifiedMatching +OMIM:615231 RC3H2 skos:exactMatch ncbigene:54542 semapv:UnspecifiedMatching +OMIM:615232 schizophrenia 18 skos:exactMatch MONDO:0014092 semapv:UnspecifiedMatching +OMIM:615233 retinitis pigmentosa 66 skos:exactMatch MONDO:0014093 semapv:UnspecifiedMatching +OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 skos:exactMatch MONDO:0014094 semapv:UnspecifiedMatching +OMIM:615235 cardiomyopathy, dilated, 1jj skos:exactMatch MONDO:0014095 semapv:UnspecifiedMatching +OMIM:615236 woods syndrome skos:exactMatch MONDO:0014096 semapv:UnspecifiedMatching +OMIM:615237 congenital short bowel syndrome skos:exactMatch MONDO:0020718 semapv:UnspecifiedMatching +OMIM:615238 lipodystrophy, familial partial, iia 5 skos:exactMatch MONDO:0014098 semapv:UnspecifiedMatching +OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:31638 semapv:UnspecifiedMatching +OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:MIR7-1 semapv:UnspecifiedMatching +OMIM:615239 MIR7-1 skos:exactMatch ncbigene:407043 semapv:UnspecifiedMatching +OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:23297 semapv:UnspecifiedMatching +OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:KCTD15 semapv:UnspecifiedMatching +OMIM:615240 KCTD15 skos:exactMatch ncbigene:79047 semapv:UnspecifiedMatching +OMIM:615241 TINCR skos:exactMatch hgnc.symbol:14607 semapv:UnspecifiedMatching +OMIM:615241 TINCR skos:exactMatch hgnc.symbol:TINCR semapv:UnspecifiedMatching +OMIM:615241 TINCR skos:exactMatch ncbigene:257000 semapv:UnspecifiedMatching +OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:44204 semapv:UnspecifiedMatching +OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:SMIM1 semapv:UnspecifiedMatching +OMIM:615242 SMIM1 skos:exactMatch ncbigene:388588 semapv:UnspecifiedMatching +OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:18095 semapv:UnspecifiedMatching +OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:DEFB114 semapv:UnspecifiedMatching +OMIM:615243 DEFB114 skos:exactMatch ncbigene:245928 semapv:UnspecifiedMatching +OMIM:615244 nephrotic syndrome, iia 8 skos:exactMatch MONDO:0014099 semapv:UnspecifiedMatching +OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:33134 semapv:UnspecifiedMatching +OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:MIR671 semapv:UnspecifiedMatching +OMIM:615245 MIR671 skos:exactMatch ncbigene:768213 semapv:UnspecifiedMatching +OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:20710 semapv:UnspecifiedMatching +OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:ZBED2 semapv:UnspecifiedMatching +OMIM:615246 ZBED2 skos:exactMatch ncbigene:79413 semapv:UnspecifiedMatching +OMIM:615247 POMK skos:exactMatch hgnc.symbol:26267 semapv:UnspecifiedMatching +OMIM:615247 POMK skos:exactMatch hgnc.symbol:POMK semapv:UnspecifiedMatching +OMIM:615247 POMK skos:exactMatch ncbigene:84197 semapv:UnspecifiedMatching +OMIM:615248 cardiomyopathy, dilated, 1kk skos:exactMatch MONDO:0014100 semapv:UnspecifiedMatching +OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 skos:exactMatch MONDO:0014101 semapv:UnspecifiedMatching +OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:20711 semapv:UnspecifiedMatching +OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:ZBED3 semapv:UnspecifiedMatching +OMIM:615250 ZBED3 skos:exactMatch ncbigene:84327 semapv:UnspecifiedMatching +OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:30803 semapv:UnspecifiedMatching +OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:ZBED5 semapv:UnspecifiedMatching +OMIM:615251 ZBED5 skos:exactMatch ncbigene:58486 semapv:UnspecifiedMatching +OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:21720 semapv:UnspecifiedMatching +OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:ZBED10P semapv:UnspecifiedMatching +OMIM:615252 ZBED6CL skos:exactMatch ncbigene:113763 semapv:UnspecifiedMatching +OMIM:615253 ZBED8 skos:exactMatch hgnc.symbol:FAM200C semapv:UnspecifiedMatching +OMIM:615253 ZBED8 skos:exactMatch ncbigene:63920 semapv:UnspecifiedMatching +OMIM:615254 SCAND3 skos:exactMatch hgnc.symbol:SCAND3 semapv:UnspecifiedMatching +OMIM:615254 SCAND3 skos:exactMatch ncbigene:114821 semapv:UnspecifiedMatching +OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:28793 semapv:UnspecifiedMatching +OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:METTL18 semapv:UnspecifiedMatching +OMIM:615255 METTL18 skos:exactMatch ncbigene:92342 semapv:UnspecifiedMatching +OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:28739 semapv:UnspecifiedMatching +OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:ETFBKMT semapv:UnspecifiedMatching +OMIM:615256 ETFBKMT skos:exactMatch ncbigene:254013 semapv:UnspecifiedMatching +OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:30476 semapv:UnspecifiedMatching +OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:METTL21A semapv:UnspecifiedMatching +OMIM:615257 METTL21A skos:exactMatch ncbigene:151194 semapv:UnspecifiedMatching +OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:24936 semapv:UnspecifiedMatching +OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:EEF1AKMT3 semapv:UnspecifiedMatching +OMIM:615258 EEF1AKMT3 skos:exactMatch ncbigene:25895 semapv:UnspecifiedMatching +OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:33717 semapv:UnspecifiedMatching +OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:METTL21C semapv:UnspecifiedMatching +OMIM:615259 METTL21C skos:exactMatch ncbigene:196541 semapv:UnspecifiedMatching +OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:20352 semapv:UnspecifiedMatching +OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:VCPKMT semapv:UnspecifiedMatching +OMIM:615260 VCPKMT skos:exactMatch ncbigene:79609 semapv:UnspecifiedMatching +OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:28368 semapv:UnspecifiedMatching +OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:METTL22 semapv:UnspecifiedMatching +OMIM:615261 METTL22 skos:exactMatch ncbigene:79091 semapv:UnspecifiedMatching +OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:26988 semapv:UnspecifiedMatching +OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:METTL23 semapv:UnspecifiedMatching +OMIM:615262 METTL23 skos:exactMatch ncbigene:124512 semapv:UnspecifiedMatching +OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:32221 semapv:UnspecifiedMatching +OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:EEF2KMT semapv:UnspecifiedMatching +OMIM:615263 EEF2KMT skos:exactMatch ncbigene:196483 semapv:UnspecifiedMatching +OMIM:615264 blood group, vel system skos:exactMatch MONDO:0044282 semapv:UnspecifiedMatching +OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:19752 semapv:UnspecifiedMatching +OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:FNBP4 semapv:UnspecifiedMatching +OMIM:615265 FNBP4 skos:exactMatch ncbigene:23360 semapv:UnspecifiedMatching +OMIM:615266 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch MONDO:0014102 semapv:UnspecifiedMatching +OMIM:615267 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch MONDO:0014103 semapv:UnspecifiedMatching +OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 skos:exactMatch MONDO:0014104 semapv:UnspecifiedMatching +OMIM:615269 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch MONDO:0014105 semapv:UnspecifiedMatching +OMIM:615270 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch MONDO:0014106 semapv:UnspecifiedMatching +OMIM:615271 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch MONDO:0014107 semapv:UnspecifiedMatching +OMIM:615272 fanconi anemia, complementation group q skos:exactMatch MONDO:0014108 semapv:UnspecifiedMatching +OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch MONDO:0800044 semapv:UnspecifiedMatching +OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:404454 semapv:UnspecifiedMatching +OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching +OMIM:615274 cataract 15, multiple types skos:exactMatch MONDO:0014110 semapv:UnspecifiedMatching +OMIM:615275 ACOD1 skos:exactMatch UMLS:C2239547 semapv:UnspecifiedMatching +OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:33904 semapv:UnspecifiedMatching +OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:ACOD1 semapv:UnspecifiedMatching +OMIM:615275 ACOD1 skos:exactMatch ncbigene:730249 semapv:UnspecifiedMatching +OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:23752 semapv:UnspecifiedMatching +OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:CERS3 semapv:UnspecifiedMatching +OMIM:615276 CERS3 skos:exactMatch ncbigene:204219 semapv:UnspecifiedMatching +OMIM:615277 cataract 19, multiple types skos:exactMatch MONDO:0014111 semapv:UnspecifiedMatching +OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch MONDO:0014112 semapv:UnspecifiedMatching +OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching +OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch MONDO:0014113 semapv:UnspecifiedMatching +OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching +OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch MONDO:0014114 semapv:UnspecifiedMatching +OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch UMLS:C3809007 semapv:UnspecifiedMatching +OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity skos:exactMatch MONDO:0014115 semapv:UnspecifiedMatching +OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 skos:exactMatch MONDO:0014116 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch UMLS:C1428397 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:24659 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:EXOC8 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch ncbigene:149371 semapv:UnspecifiedMatching +OMIM:615284 charcot-marie-tooth disease, iia 4b3 skos:exactMatch MONDO:0014117 semapv:UnspecifiedMatching +OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive skos:exactMatch MONDO:0014118 semapv:UnspecifiedMatching +OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch MONDO:0014119 semapv:UnspecifiedMatching +OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching +OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch UMLS:C3809039 semapv:UnspecifiedMatching +OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 skos:exactMatch MONDO:0014120 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch UMLS:C1824106 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:24245 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:DRC1 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch ncbigene:92749 semapv:UnspecifiedMatching +OMIM:615289 MISP skos:exactMatch hgnc.symbol:27000 semapv:UnspecifiedMatching +OMIM:615289 MISP skos:exactMatch hgnc.symbol:MISP semapv:UnspecifiedMatching +OMIM:615289 MISP skos:exactMatch ncbigene:126353 semapv:UnspecifiedMatching +OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch MONDO:0014121 semapv:UnspecifiedMatching +OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363447 semapv:UnspecifiedMatching +OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363454 semapv:UnspecifiedMatching +OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch UMLS:C4747715 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1425214 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017377 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017378 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:17978 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:B3GALT6 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch ncbigene:126792 semapv:UnspecifiedMatching +OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:24725 semapv:UnspecifiedMatching +OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:FAM111A semapv:UnspecifiedMatching +OMIM:615292 FAM111A skos:exactMatch ncbigene:63901 semapv:UnspecifiedMatching +OMIM:615293 myofibromatosis, infantile, 2 skos:exactMatch MONDO:0014122 semapv:UnspecifiedMatching +OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch MONDO:0014123 semapv:UnspecifiedMatching +OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching +OMIM:615295 USP34 skos:exactMatch hgnc.symbol:20066 semapv:UnspecifiedMatching +OMIM:615295 USP34 skos:exactMatch hgnc.symbol:USP34 semapv:UnspecifiedMatching +OMIM:615295 USP34 skos:exactMatch ncbigene:9736 semapv:UnspecifiedMatching +OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:15552 semapv:UnspecifiedMatching +OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:IL1F10 semapv:UnspecifiedMatching +OMIM:615296 IL1F10 skos:exactMatch ncbigene:84639 semapv:UnspecifiedMatching +OMIM:615297 adams-oliver syndrome 4 skos:exactMatch MONDO:0014124 semapv:UnspecifiedMatching +OMIM:615297 adams-oliver syndrome 4 skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching +OMIM:615297 adams-oliver syndrome 4 skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching +OMIM:615298 symphalangism, proximal, 1b skos:exactMatch MONDO:0014125 semapv:UnspecifiedMatching +OMIM:615298 symphalangism, proximal, 1b skos:exactMatch Orphanet:3250 semapv:UnspecifiedMatching +OMIM:615298 symphalangism, proximal, 1b skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching +OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:30482 semapv:UnspecifiedMatching +OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:NXNL2 semapv:UnspecifiedMatching +OMIM:615299 NXNL2 skos:exactMatch ncbigene:158046 semapv:UnspecifiedMatching +OMIM:615300 perrault syndrome 4 skos:exactMatch MONDO:0014126 semapv:UnspecifiedMatching +OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:25983 semapv:UnspecifiedMatching +OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:TMEM214 semapv:UnspecifiedMatching +OMIM:615301 TMEM214 skos:exactMatch ncbigene:54867 semapv:UnspecifiedMatching +OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:25151 semapv:UnspecifiedMatching +OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:ADAT3 semapv:UnspecifiedMatching +OMIM:615302 ADAT3 skos:exactMatch ncbigene:113179 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch UMLS:C1421119 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:12274 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:TRG-TCC1-1 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch ncbigene:7197 semapv:UnspecifiedMatching +OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:34985 semapv:UnspecifiedMatching +OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:TRV-CAC3-1 semapv:UnspecifiedMatching +OMIM:615304 TRV-CAC3-1 skos:exactMatch ncbigene:100189416 semapv:UnspecifiedMatching +OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:12344 semapv:UnspecifiedMatching +OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:TRR-ACG1-2 semapv:UnspecifiedMatching +OMIM:615305 TRR-ACG1-2 skos:exactMatch ncbigene:7231 semapv:UnspecifiedMatching +OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:34790 semapv:UnspecifiedMatching +OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:TRV-CAC1-6 semapv:UnspecifiedMatching +OMIM:615306 TRV-CAC1-6 skos:exactMatch ncbigene:100189227 semapv:UnspecifiedMatching +OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:34573 semapv:UnspecifiedMatching +OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:TRV-AAC5-1 semapv:UnspecifiedMatching +OMIM:615307 TRV-AAC5-1 skos:exactMatch ncbigene:100189014 semapv:UnspecifiedMatching +OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:34723 semapv:UnspecifiedMatching +OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:TRV-AAC4-1 semapv:UnspecifiedMatching +OMIM:615308 TRV-AAC4-1 skos:exactMatch ncbigene:100189161 semapv:UnspecifiedMatching +OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:34908 semapv:UnspecifiedMatching +OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:TRT-AGT2-2 semapv:UnspecifiedMatching +OMIM:615309 TRT-AGT2-2 skos:exactMatch ncbigene:100189340 semapv:UnspecifiedMatching +OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:34885 semapv:UnspecifiedMatching +OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:TRV-AAC1-1 semapv:UnspecifiedMatching +OMIM:615310 TRV-AAC1-1 skos:exactMatch ncbigene:100189318 semapv:UnspecifiedMatching +OMIM:615312 albinism, oculocutaneous, iia 5 skos:exactMatch MONDO:0014127 semapv:UnspecifiedMatching +OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:18811 semapv:UnspecifiedMatching +OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:B3GNT7 semapv:UnspecifiedMatching +OMIM:615313 B3GNT7 skos:exactMatch ncbigene:93010 semapv:UnspecifiedMatching +OMIM:615314 craniosynostosis 3 skos:exactMatch MONDO:0014128 semapv:UnspecifiedMatching +OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35098 semapv:UnspecifiedMatching +OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching +OMIM:615314 craniosynostosis 3 skos:exactMatch UMLS:C3715051 semapv:UnspecifiedMatching +OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:24141 semapv:UnspecifiedMatching +OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:B3GNT6 semapv:UnspecifiedMatching +OMIM:615315 B3GNT6 skos:exactMatch ncbigene:192134 semapv:UnspecifiedMatching +OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:27302 semapv:UnspecifiedMatching +OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:IBA57 semapv:UnspecifiedMatching +OMIM:615316 IBA57 skos:exactMatch ncbigene:200205 semapv:UnspecifiedMatching +OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:19857 semapv:UnspecifiedMatching +OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:ISCA2 semapv:UnspecifiedMatching +OMIM:615317 ISCA2 skos:exactMatch ncbigene:122961 semapv:UnspecifiedMatching +OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:20952 semapv:UnspecifiedMatching +OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:TMEM14C semapv:UnspecifiedMatching +OMIM:615318 TMEM14C skos:exactMatch ncbigene:51522 semapv:UnspecifiedMatching +OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:20387 semapv:UnspecifiedMatching +OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:IMPACT semapv:UnspecifiedMatching +OMIM:615319 IMPACT skos:exactMatch ncbigene:55364 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch UMLS:C1539586 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:22932 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:GMPPB semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch ncbigene:29925 semapv:UnspecifiedMatching +OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:2065 semapv:UnspecifiedMatching +OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:CLIC6 semapv:UnspecifiedMatching +OMIM:615321 CLIC6 skos:exactMatch ncbigene:54102 semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch UMLS:C1537608 semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch hgnc.symbol:24613 semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch hgnc.symbol:NRROS semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch ncbigene:375387 semapv:UnspecifiedMatching +OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:28953 semapv:UnspecifiedMatching +OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:JOSD1 semapv:UnspecifiedMatching +OMIM:615323 JOSD1 skos:exactMatch ncbigene:9929 semapv:UnspecifiedMatching +OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:28853 semapv:UnspecifiedMatching +OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:JOSD2 semapv:UnspecifiedMatching +OMIM:615324 JOSD2 skos:exactMatch ncbigene:126119 semapv:UnspecifiedMatching +OMIM:615326 IFNK skos:exactMatch hgnc.symbol:21714 semapv:UnspecifiedMatching +OMIM:615326 IFNK skos:exactMatch hgnc.symbol:IFNK semapv:UnspecifiedMatching +OMIM:615326 IFNK skos:exactMatch ncbigene:56832 semapv:UnspecifiedMatching +OMIM:615327 dowling-degos disease 2 skos:exactMatch MONDO:0014130 semapv:UnspecifiedMatching +OMIM:615328 shaheen syndrome skos:exactMatch MONDO:0014131 semapv:UnspecifiedMatching +OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:24968 semapv:UnspecifiedMatching +OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:EXOC2 semapv:UnspecifiedMatching +OMIM:615329 EXOC2 skos:exactMatch ncbigene:55770 semapv:UnspecifiedMatching +OMIM:615330 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch MONDO:0014132 semapv:UnspecifiedMatching +OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:21728 semapv:UnspecifiedMatching +OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:IRF2BP1 semapv:UnspecifiedMatching +OMIM:615331 IRF2BP1 skos:exactMatch ncbigene:26145 semapv:UnspecifiedMatching +OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:21729 semapv:UnspecifiedMatching +OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:IRF2BP2 semapv:UnspecifiedMatching +OMIM:615332 IRF2BP2 skos:exactMatch ncbigene:359948 semapv:UnspecifiedMatching +OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:15684 semapv:UnspecifiedMatching +OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:B3GNT5 semapv:UnspecifiedMatching +OMIM:615333 B3GNT5 skos:exactMatch ncbigene:84002 semapv:UnspecifiedMatching +OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:23747 semapv:UnspecifiedMatching +OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:CERS4 semapv:UnspecifiedMatching +OMIM:615334 CERS4 skos:exactMatch ncbigene:79603 semapv:UnspecifiedMatching +OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:23749 semapv:UnspecifiedMatching +OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:CERS5 semapv:UnspecifiedMatching +OMIM:615335 CERS5 skos:exactMatch ncbigene:91012 semapv:UnspecifiedMatching +OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:23826 semapv:UnspecifiedMatching +OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:CERS6 semapv:UnspecifiedMatching +OMIM:615336 CERS6 skos:exactMatch ncbigene:253782 semapv:UnspecifiedMatching +OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:21727 semapv:UnspecifiedMatching +OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:B3GNTL1 semapv:UnspecifiedMatching +OMIM:615337 B3GNTL1 skos:exactMatch ncbigene:146712 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch MONDO:0014133 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:352596 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching +OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:20325 semapv:UnspecifiedMatching +OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:DNAJC15 semapv:UnspecifiedMatching +OMIM:615339 DNAJC15 skos:exactMatch ncbigene:29103 semapv:UnspecifiedMatching +OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:30372 semapv:UnspecifiedMatching +OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:KLHL40 semapv:UnspecifiedMatching +OMIM:615340 kelch-like 40: klhl40 skos:exactMatch ncbigene:131377 semapv:UnspecifiedMatching +OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:20575 semapv:UnspecifiedMatching +OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:CYP4A22 semapv:UnspecifiedMatching +OMIM:615341 CYP4A22 skos:exactMatch ncbigene:284541 semapv:UnspecifiedMatching +OMIM:615342 pulmonary hypertension, primary, 2 skos:exactMatch MONDO:0014134 semapv:UnspecifiedMatching +OMIM:615343 pulmonary hypertension, primary, 3 skos:exactMatch MONDO:0014135 semapv:UnspecifiedMatching +OMIM:615344 pulmonary hypertension, primary, 4 skos:exactMatch MONDO:0014136 semapv:UnspecifiedMatching +OMIM:615345 MYMK skos:exactMatch hgnc.symbol:33778 semapv:UnspecifiedMatching +OMIM:615345 MYMK skos:exactMatch hgnc.symbol:MYMK semapv:UnspecifiedMatching +OMIM:615345 MYMK skos:exactMatch ncbigene:389827 semapv:UnspecifiedMatching +OMIM:615346 precocious puberty, central, 2 skos:exactMatch MONDO:0014137 semapv:UnspecifiedMatching +OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:29230 semapv:UnspecifiedMatching +OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:ATAD2B semapv:UnspecifiedMatching +OMIM:615347 ATAD2B skos:exactMatch ncbigene:54454 semapv:UnspecifiedMatching +OMIM:615348 nemaline myopathy 8 skos:exactMatch MONDO:0014138 semapv:UnspecifiedMatching +OMIM:615348 nemaline myopathy 8 skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching +OMIM:615348 nemaline myopathy 8 skos:exactMatch UMLS:C3809209 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch MONDO:0014139 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching +OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch MONDO:0014140 semapv:UnspecifiedMatching +OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch MONDO:0014141 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching +OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch MONDO:0014142 semapv:UnspecifiedMatching +OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch Orphanet:363623 semapv:UnspecifiedMatching +OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching +OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:21098 semapv:UnspecifiedMatching +OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:CCDC28A semapv:UnspecifiedMatching +OMIM:615353 CCDC28A skos:exactMatch ncbigene:25901 semapv:UnspecifiedMatching +OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:30299 semapv:UnspecifiedMatching +OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:LRIF1 semapv:UnspecifiedMatching +OMIM:615354 LRIF1 skos:exactMatch ncbigene:55791 semapv:UnspecifiedMatching +OMIM:615355 noonan syndrome 8 skos:exactMatch MONDO:0014143 semapv:UnspecifiedMatching +OMIM:615356 muscular dystrophy, limb-girdle, autosomal recessive 18 skos:exactMatch MONDO:0014144 semapv:UnspecifiedMatching +OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:24139 semapv:UnspecifiedMatching +OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:B3GNT8 semapv:UnspecifiedMatching +OMIM:615357 B3GNT8 skos:exactMatch ncbigene:374907 semapv:UnspecifiedMatching +OMIM:615358 AK9 skos:exactMatch hgnc.symbol:33814 semapv:UnspecifiedMatching +OMIM:615358 AK9 skos:exactMatch hgnc.symbol:AK9 semapv:UnspecifiedMatching +OMIM:615358 AK9 skos:exactMatch ncbigene:221264 semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch UMLS:C2681663 semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch hgnc.symbol:21905 semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch hgnc.symbol:MIOS semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch ncbigene:54468 semapv:UnspecifiedMatching +OMIM:615360 leber congenital amaurosis 17 skos:exactMatch MONDO:0014145 semapv:UnspecifiedMatching +OMIM:615361 hypocalcemia, autosomal dominant 2 skos:exactMatch MONDO:0014146 semapv:UnspecifiedMatching +OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) skos:exactMatch MONDO:0014147 semapv:UnspecifiedMatching +OMIM:615363 estrogen resistance skos:exactMatch MONDO:0014148 semapv:UnspecifiedMatching +OMIM:615364 AK7 skos:exactMatch hgnc.symbol:20091 semapv:UnspecifiedMatching +OMIM:615364 AK7 skos:exactMatch hgnc.symbol:AK7 semapv:UnspecifiedMatching +OMIM:615364 AK7 skos:exactMatch ncbigene:122481 semapv:UnspecifiedMatching +OMIM:615365 AK8 skos:exactMatch hgnc.symbol:26526 semapv:UnspecifiedMatching +OMIM:615365 AK8 skos:exactMatch hgnc.symbol:AK8 semapv:UnspecifiedMatching +OMIM:615365 AK8 skos:exactMatch ncbigene:158067 semapv:UnspecifiedMatching +OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:24557 semapv:UnspecifiedMatching +OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:NOL11 semapv:UnspecifiedMatching +OMIM:615366 NOL11 skos:exactMatch ncbigene:25926 semapv:UnspecifiedMatching +OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:29909 semapv:UnspecifiedMatching +OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:NTAN1 semapv:UnspecifiedMatching +OMIM:615367 NTAN1 skos:exactMatch ncbigene:123803 semapv:UnspecifiedMatching +OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch MONDO:0014149 semapv:UnspecifiedMatching +OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch Orphanet:363409 semapv:UnspecifiedMatching +OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch MONDO:0014150 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch UMLS:C3809278 semapv:UnspecifiedMatching +OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:26724 semapv:UnspecifiedMatching +OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:ANKS6 semapv:UnspecifiedMatching +OMIM:615370 ANKS6 skos:exactMatch ncbigene:203286 semapv:UnspecifiedMatching +OMIM:615371 pulmonary hypertension, neonatal, susceptibility to skos:exactMatch MONDO:0014151 semapv:UnspecifiedMatching +OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:38258 semapv:UnspecifiedMatching +OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:MIR1260B semapv:UnspecifiedMatching +OMIM:615372 MIR1260B skos:exactMatch ncbigene:100422991 semapv:UnspecifiedMatching +OMIM:615373 left ventricular noncompaction 8 skos:exactMatch MONDO:0014152 semapv:UnspecifiedMatching +OMIM:615374 cone-rod dystrophy 18 skos:exactMatch MONDO:0014153 semapv:UnspecifiedMatching +OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:17368 semapv:UnspecifiedMatching +OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:IRAK1BP1 semapv:UnspecifiedMatching +OMIM:615375 IRAK1BP1 skos:exactMatch ncbigene:134728 semapv:UnspecifiedMatching +OMIM:615376 charcot-marie-tooth disease, recessive intermediate c skos:exactMatch MONDO:0014154 semapv:UnspecifiedMatching +OMIM:615377 atrial fibrillation, familial, 13 skos:exactMatch MONDO:0014155 semapv:UnspecifiedMatching +OMIM:615378 atrial fibrillation, familial, 14 skos:exactMatch MONDO:0014156 semapv:UnspecifiedMatching +OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:32906 semapv:UnspecifiedMatching +OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:MIR650 semapv:UnspecifiedMatching +OMIM:615379 MIR650 skos:exactMatch ncbigene:723778 semapv:UnspecifiedMatching +OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:20363 semapv:UnspecifiedMatching +OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:AREL1 semapv:UnspecifiedMatching +OMIM:615380 AREL1 skos:exactMatch ncbigene:9870 semapv:UnspecifiedMatching +OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome skos:exactMatch MONDO:0014157 semapv:UnspecifiedMatching +OMIM:615382 nephronophthisis 16 skos:exactMatch MONDO:0014158 semapv:UnspecifiedMatching +OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:13286 semapv:UnspecifiedMatching +OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:FIGNL1 semapv:UnspecifiedMatching +OMIM:615383 FIGNL1 skos:exactMatch ncbigene:63979 semapv:UnspecifiedMatching +OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:28971 semapv:UnspecifiedMatching +OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:SPIDR semapv:UnspecifiedMatching +OMIM:615384 SPIDR skos:exactMatch ncbigene:23514 semapv:UnspecifiedMatching +OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:32067 semapv:UnspecifiedMatching +OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:MIR485 semapv:UnspecifiedMatching +OMIM:615385 MIR485 skos:exactMatch ncbigene:574436 semapv:UnspecifiedMatching +OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 skos:exactMatch MONDO:0014159 semapv:UnspecifiedMatching +OMIM:615387 immunodeficiency 7 skos:exactMatch MONDO:0014160 semapv:UnspecifiedMatching +OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:21172 semapv:UnspecifiedMatching +OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:ADAT2 semapv:UnspecifiedMatching +OMIM:615388 ADAT2 skos:exactMatch ncbigene:134637 semapv:UnspecifiedMatching +OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:23487 semapv:UnspecifiedMatching +OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:IDI2 semapv:UnspecifiedMatching +OMIM:615389 IDI2 skos:exactMatch ncbigene:91734 semapv:UnspecifiedMatching +OMIM:615390 vesicoureteral reflux 7 skos:exactMatch MONDO:0014161 semapv:UnspecifiedMatching +OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:30885 semapv:UnspecifiedMatching +OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:IDI2-AS1 semapv:UnspecifiedMatching +OMIM:615391 IDI2AS1 skos:exactMatch ncbigene:55853 semapv:UnspecifiedMatching +OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:20256 semapv:UnspecifiedMatching +OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:SFMBT2 semapv:UnspecifiedMatching +OMIM:615392 SFMBT2 skos:exactMatch ncbigene:57713 semapv:UnspecifiedMatching +OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:28785 semapv:UnspecifiedMatching +OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:MTERF4 semapv:UnspecifiedMatching +OMIM:615393 MTERF4 skos:exactMatch ncbigene:130916 semapv:UnspecifiedMatching +OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:31802 semapv:UnspecifiedMatching +OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:NSUN4 semapv:UnspecifiedMatching +OMIM:615394 NSUN4 skos:exactMatch ncbigene:387338 semapv:UnspecifiedMatching +OMIM:615395 combined oxidative phosphorylation deficiency 16 skos:exactMatch MONDO:0014162 semapv:UnspecifiedMatching +OMIM:615396 left ventricular noncompaction 10 skos:exactMatch MONDO:0014163 semapv:UnspecifiedMatching +OMIM:615397 meckel syndrome, iia 11 skos:exactMatch MONDO:0014164 semapv:UnspecifiedMatching +OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch MONDO:0014165 semapv:UnspecifiedMatching +OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch MONDO:0014166 semapv:UnspecifiedMatching +OMIM:615400 epilepsy, familial adult myoclonic, 5 skos:exactMatch MONDO:0014167 semapv:UnspecifiedMatching +OMIM:615401 immunodeficiency 8 with lymphoproliferation skos:exactMatch MONDO:0014168 semapv:UnspecifiedMatching +OMIM:615402 dyschromatosis universalis hereditaria 3 skos:exactMatch MONDO:0014169 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch UMLS:C1823273 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:28369 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:THOC6 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch ncbigene:79228 semapv:UnspecifiedMatching +OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:26230 semapv:UnspecifiedMatching +OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:TM4SF20 semapv:UnspecifiedMatching +OMIM:615404 TM4SF20 skos:exactMatch ncbigene:79853 semapv:UnspecifiedMatching +OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:19663 semapv:UnspecifiedMatching +OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:GNG12 semapv:UnspecifiedMatching +OMIM:615405 GNG12 skos:exactMatch ncbigene:55970 semapv:UnspecifiedMatching +OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:43938 semapv:UnspecifiedMatching +OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:GNG12-AS1 semapv:UnspecifiedMatching +OMIM:615406 GNG12AS1 skos:exactMatch ncbigene:100289178 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch UMLS:C1424778 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch UMLS:C4747737 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch UMLS:C4749131 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:17146 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:ARL2BP semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch ncbigene:23568 semapv:UnspecifiedMatching +OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:25583 semapv:UnspecifiedMatching +OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:ODAD2 semapv:UnspecifiedMatching +OMIM:615408 ODAD2 skos:exactMatch ncbigene:55130 semapv:UnspecifiedMatching +OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:26463 semapv:UnspecifiedMatching +OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:SPATA33 semapv:UnspecifiedMatching +OMIM:615409 SPATA33 skos:exactMatch ncbigene:124045 semapv:UnspecifiedMatching +OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:21232 semapv:UnspecifiedMatching +OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:MRAP2 semapv:UnspecifiedMatching +OMIM:615410 MRAP2 skos:exactMatch ncbigene:112609 semapv:UnspecifiedMatching +OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 skos:exactMatch MONDO:0014170 semapv:UnspecifiedMatching +OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 skos:exactMatch MONDO:0014171 semapv:UnspecifiedMatching +OMIM:615413 spermatogenic failure 12 skos:exactMatch MONDO:0014172 semapv:UnspecifiedMatching +OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch MONDO:0014173 semapv:UnspecifiedMatching +OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch UMLS:C3809431 semapv:UnspecifiedMatching +OMIM:615415 renal-hepatic-pancreatic dysplasia 2 skos:exactMatch MONDO:0014174 semapv:UnspecifiedMatching +OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:35126 semapv:UnspecifiedMatching +OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:BHLHA9 semapv:UnspecifiedMatching +OMIM:615416 BHLHA9 skos:exactMatch ncbigene:727857 semapv:UnspecifiedMatching +OMIM:615417 BET1L skos:exactMatch hgnc.symbol:19348 semapv:UnspecifiedMatching +OMIM:615417 BET1L skos:exactMatch hgnc.symbol:BET1L semapv:UnspecifiedMatching +OMIM:615417 BET1L skos:exactMatch ncbigene:51272 semapv:UnspecifiedMatching +OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive skos:exactMatch MONDO:0014175 semapv:UnspecifiedMatching +OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch MONDO:0024567 semapv:UnspecifiedMatching +OMIM:615420 myopia 22, autosomal dominant skos:exactMatch MONDO:0014177 semapv:UnspecifiedMatching +OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:26575 semapv:UnspecifiedMatching +OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:PRIMPOL semapv:UnspecifiedMatching +OMIM:615421 CCDC111 skos:exactMatch ncbigene:201973 semapv:UnspecifiedMatching +OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 skos:exactMatch MONDO:0014178 semapv:UnspecifiedMatching +OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:26022 semapv:UnspecifiedMatching +OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:TRMT10C semapv:UnspecifiedMatching +OMIM:615423 TRMT10C skos:exactMatch ncbigene:54931 semapv:UnspecifiedMatching +OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 skos:exactMatch MONDO:0014179 semapv:UnspecifiedMatching +OMIM:615425 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency skos:exactMatch MONDO:0014180 semapv:UnspecifiedMatching +OMIM:615426 amyotrophic lateral sclerosis 20 skos:exactMatch MONDO:0014181 semapv:UnspecifiedMatching +OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:26158 semapv:UnspecifiedMatching +OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:ELMOD3 semapv:UnspecifiedMatching +OMIM:615427 ELMOD3 skos:exactMatch ncbigene:84173 semapv:UnspecifiedMatching +OMIM:615428 DDX47 skos:exactMatch UMLS:C1425702 semapv:UnspecifiedMatching +OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:18682 semapv:UnspecifiedMatching +OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:DDX47 semapv:UnspecifiedMatching +OMIM:615428 DDX47 skos:exactMatch ncbigene:51202 semapv:UnspecifiedMatching +OMIM:615429 deafness, autosomal recessive 88 skos:exactMatch MONDO:0014182 semapv:UnspecifiedMatching +OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:31723 semapv:UnspecifiedMatching +OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:TMEM241 semapv:UnspecifiedMatching +OMIM:615430 TMEM241 skos:exactMatch ncbigene:85019 semapv:UnspecifiedMatching +OMIM:615431 myopia 23, autosomal recessive skos:exactMatch MONDO:0014183 semapv:UnspecifiedMatching +OMIM:615432 specific language impairment 5 skos:exactMatch MONDO:0014184 semapv:UnspecifiedMatching +OMIM:615432 specific language impairment 5 skos:exactMatch UMLS:C3809483 semapv:UnspecifiedMatching +OMIM:615433 chromosome 3q13.31 deletion syndrome skos:exactMatch MONDO:0014185 semapv:UnspecifiedMatching +OMIM:615434 retinitis pigmentosa 82 with or without situs inversus skos:exactMatch MONDO:0014186 semapv:UnspecifiedMatching +OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:13280 semapv:UnspecifiedMatching +OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:ERO1A semapv:UnspecifiedMatching +OMIM:615435 ERO1L skos:exactMatch ncbigene:30001 semapv:UnspecifiedMatching +OMIM:615436 aortic aneurysm, familial thoracic 8 skos:exactMatch MONDO:0014187 semapv:UnspecifiedMatching +OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:14355 semapv:UnspecifiedMatching +OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:ERO1B semapv:UnspecifiedMatching +OMIM:615437 ERO1LB skos:exactMatch ncbigene:56605 semapv:UnspecifiedMatching +OMIM:615438 infantile liver failure syndrome 1 skos:exactMatch MONDO:0024568 semapv:UnspecifiedMatching +OMIM:615439 macular degeneration, age-related, 13 skos:exactMatch MONDO:0014189 semapv:UnspecifiedMatching +OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch MONDO:0014190 semapv:UnspecifiedMatching +OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch Orphanet:369913 semapv:UnspecifiedMatching +OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching +OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness skos:exactMatch MONDO:0014191 semapv:UnspecifiedMatching +OMIM:615444 ciliary dyskinesia, primary, 22 skos:exactMatch MONDO:0014192 semapv:UnspecifiedMatching +OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:12157 semapv:UnspecifiedMatching +OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:TRBC2 semapv:UnspecifiedMatching +OMIM:615445 TRBC2 skos:exactMatch ncbigene:28638 semapv:UnspecifiedMatching +OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:12158 semapv:UnspecifiedMatching +OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:TRBD1 semapv:UnspecifiedMatching +OMIM:615447 TRBD1 skos:exactMatch ncbigene:28637 semapv:UnspecifiedMatching +OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:12159 semapv:UnspecifiedMatching +OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:TRBD2 semapv:UnspecifiedMatching +OMIM:615448 TRBD2 skos:exactMatch ncbigene:28636 semapv:UnspecifiedMatching +OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:12276 semapv:UnspecifiedMatching +OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:TRGC2 semapv:UnspecifiedMatching +OMIM:615450 TRGC2 skos:exactMatch ncbigene:6967 semapv:UnspecifiedMatching +OMIM:615451 ciliary dyskinesia, primary, 23 skos:exactMatch MONDO:0014193 semapv:UnspecifiedMatching +OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:48942 semapv:UnspecifiedMatching +OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:PRNCR1 semapv:UnspecifiedMatching +OMIM:615452 PRNCR1 skos:exactMatch ncbigene:101867536 semapv:UnspecifiedMatching +OMIM:615453 mitochondrial complex 3 deficiency, nuclear iia 6 skos:exactMatch MONDO:0014194 semapv:UnspecifiedMatching +OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:25334 semapv:UnspecifiedMatching +OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:ELMOD1 semapv:UnspecifiedMatching +OMIM:615456 ELMOD1 skos:exactMatch ncbigene:55531 semapv:UnspecifiedMatching +OMIM:615457 body mass index quantitative trait locus 18 skos:exactMatch MONDO:0044283 semapv:UnspecifiedMatching +OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus skos:exactMatch MONDO:0014195 semapv:UnspecifiedMatching +OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:21862 semapv:UnspecifiedMatching +OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:DYNC2I1 semapv:UnspecifiedMatching +OMIM:615462 WDR60 skos:exactMatch ncbigene:55112 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch UMLS:C1825662 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:29040 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:SZT2 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch ncbigene:23334 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch UMLS:C1539234 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:25360 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:DDX59 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch ncbigene:83479 semapv:UnspecifiedMatching +OMIM:615465 hartsfield syndrome skos:exactMatch MONDO:0014196 semapv:UnspecifiedMatching +OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:13519 semapv:UnspecifiedMatching +OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:TLNRD1 semapv:UnspecifiedMatching +OMIM:615466 TLNRD1 skos:exactMatch ncbigene:59274 semapv:UnspecifiedMatching +OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:28116 semapv:UnspecifiedMatching +OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:CPTP semapv:UnspecifiedMatching +OMIM:615467 GLTPD1 skos:exactMatch ncbigene:80772 semapv:UnspecifiedMatching +OMIM:615468 immunodeficiency 12 skos:exactMatch MONDO:0014197 semapv:UnspecifiedMatching +OMIM:615468 immunodeficiency 12 skos:exactMatch Orphanet:397964 semapv:UnspecifiedMatching +OMIM:615468 immunodeficiency 12 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching +OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:32830 semapv:UnspecifiedMatching +OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:MIR574 semapv:UnspecifiedMatching +OMIM:615469 MIR574 skos:exactMatch ncbigene:693159 semapv:UnspecifiedMatching +OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:25907 semapv:UnspecifiedMatching +OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:CEP89 semapv:UnspecifiedMatching +OMIM:615470 CEP89 skos:exactMatch ncbigene:84902 semapv:UnspecifiedMatching +OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) skos:exactMatch MONDO:0014198 semapv:UnspecifiedMatching +OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:2243 semapv:UnspecifiedMatching +OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:COPZ1 semapv:UnspecifiedMatching +OMIM:615472 COPZ1 skos:exactMatch ncbigene:22818 semapv:UnspecifiedMatching +OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch MONDO:0014199 semapv:UnspecifiedMatching +OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching +OMIM:615474 primary aldosteronism, seizures, and neurologic abnormalities skos:exactMatch MONDO:0014200 semapv:UnspecifiedMatching +OMIM:615475 DHX34 skos:exactMatch UMLS:C1424505 semapv:UnspecifiedMatching +OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:16719 semapv:UnspecifiedMatching +OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:DHX34 semapv:UnspecifiedMatching +OMIM:615475 DHX34 skos:exactMatch ncbigene:9704 semapv:UnspecifiedMatching +OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch MONDO:0014201 semapv:UnspecifiedMatching +OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching +OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:22009 semapv:UnspecifiedMatching +OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:NYAP1 semapv:UnspecifiedMatching +OMIM:615477 NYAP1 skos:exactMatch ncbigene:222950 semapv:UnspecifiedMatching +OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:29291 semapv:UnspecifiedMatching +OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:NYAP2 semapv:UnspecifiedMatching +OMIM:615478 NYAP2 skos:exactMatch ncbigene:57624 semapv:UnspecifiedMatching +OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:29822 semapv:UnspecifiedMatching +OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:MYO16 semapv:UnspecifiedMatching +OMIM:615479 MYO16 skos:exactMatch ncbigene:23026 semapv:UnspecifiedMatching +OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:48597 semapv:UnspecifiedMatching +OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:BLACAT1 semapv:UnspecifiedMatching +OMIM:615480 BLACAT1 skos:exactMatch ncbigene:101669762 semapv:UnspecifiedMatching +OMIM:615481 ciliary dyskinesia, primary, 24 skos:exactMatch MONDO:0014202 semapv:UnspecifiedMatching +OMIM:615482 ciliary dyskinesia, primary, 25 skos:exactMatch MONDO:0014203 semapv:UnspecifiedMatching +OMIM:615483 basal ganglia calcification, idiopathic, 5 skos:exactMatch MONDO:0014204 semapv:UnspecifiedMatching +OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:25734 semapv:UnspecifiedMatching +OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:PTCD2 semapv:UnspecifiedMatching +OMIM:615484 PTCD2 skos:exactMatch ncbigene:79810 semapv:UnspecifiedMatching +OMIM:615485 bainbridge-ropers syndrome skos:exactMatch MONDO:0014205 semapv:UnspecifiedMatching +OMIM:615486 interstitial lung and liver disease skos:exactMatch MONDO:0014206 semapv:UnspecifiedMatching +OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:32624 semapv:UnspecifiedMatching +OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:SNORA2C semapv:UnspecifiedMatching +OMIM:615487 SNORA2C skos:exactMatch ncbigene:677815 semapv:UnspecifiedMatching +OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:26024 semapv:UnspecifiedMatching +OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:KANSL2 semapv:UnspecifiedMatching +OMIM:615488 KANSL2 skos:exactMatch ncbigene:54934 semapv:UnspecifiedMatching +OMIM:615489 macular degeneration, age-related, 14 skos:exactMatch MONDO:0014207 semapv:UnspecifiedMatching +OMIM:615490 charcot-marie-tooth disease, axonal, iia 2r skos:exactMatch MONDO:0014208 semapv:UnspecifiedMatching +OMIM:615491 spastic paraplegia 79b, autosomal recessive skos:exactMatch MONDO:0014209 semapv:UnspecifiedMatching +OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch MONDO:0014210 semapv:UnspecifiedMatching +OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch Orphanet:356996 semapv:UnspecifiedMatching +OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch UMLS:C1412981 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017383 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017384 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:1301 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:CFAP298 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch ncbigene:56683 semapv:UnspecifiedMatching +OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:22923 semapv:UnspecifiedMatching +OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:GMPPA semapv:UnspecifiedMatching +OMIM:615495 GMPPA skos:exactMatch ncbigene:29926 semapv:UnspecifiedMatching +OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:26504 semapv:UnspecifiedMatching +OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:AGBL1 semapv:UnspecifiedMatching +OMIM:615496 AGBL1 skos:exactMatch ncbigene:123624 semapv:UnspecifiedMatching +OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:25979 semapv:UnspecifiedMatching +OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:MIEF1 semapv:UnspecifiedMatching +OMIM:615497 MIEF1 skos:exactMatch ncbigene:54471 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch UMLS:C1425177 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:17920 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:MIEF2 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch ncbigene:125170 semapv:UnspecifiedMatching +OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:30263 semapv:UnspecifiedMatching +OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:PDP2 semapv:UnspecifiedMatching +OMIM:615499 PDP2 skos:exactMatch ncbigene:57546 semapv:UnspecifiedMatching +OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch MONDO:0014211 semapv:UnspecifiedMatching +OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch UMLS:C3809684 semapv:UnspecifiedMatching +OMIM:615501 molybdenum cofactor deficiency, complementation group c skos:exactMatch MONDO:0014212 semapv:UnspecifiedMatching +OMIM:615502 intellectual developmental disorder, autosomal dominant 21 skos:exactMatch MONDO:0014213 semapv:UnspecifiedMatching +OMIM:615503 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch MONDO:0014214 semapv:UnspecifiedMatching +OMIM:615504 ciliary dyskinesia, primary, 27 skos:exactMatch MONDO:0014215 semapv:UnspecifiedMatching +OMIM:615505 ciliary dyskinesia, primary, 28 skos:exactMatch MONDO:0014216 semapv:UnspecifiedMatching +OMIM:615506 telangiectasia, hereditary hemorrhagic, iia 5 skos:exactMatch MONDO:0014217 semapv:UnspecifiedMatching +OMIM:615507 NISCH skos:exactMatch hgnc.symbol:18006 semapv:UnspecifiedMatching +OMIM:615507 NISCH skos:exactMatch hgnc.symbol:NISCH semapv:UnspecifiedMatching +OMIM:615507 NISCH skos:exactMatch ncbigene:11188 semapv:UnspecifiedMatching +OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige skos:exactMatch MONDO:0014218 semapv:UnspecifiedMatching +OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:33351 semapv:UnspecifiedMatching +OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:MIR675 semapv:UnspecifiedMatching +OMIM:615509 MIR675 skos:exactMatch ncbigene:100033819 semapv:UnspecifiedMatching +OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome skos:exactMatch MONDO:0014219 semapv:UnspecifiedMatching +OMIM:615511 myopathy due to myoadenylate deaminase deficiency skos:exactMatch MONDO:0014220 semapv:UnspecifiedMatching +OMIM:615512 triosephosphate isomerase deficiency skos:exactMatch MONDO:0014221 semapv:UnspecifiedMatching +OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant skos:exactMatch MONDO:0014222 semapv:UnspecifiedMatching +OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:24224 semapv:UnspecifiedMatching +OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:CDK12 semapv:UnspecifiedMatching +OMIM:615514 CDK12 skos:exactMatch ncbigene:51755 semapv:UnspecifiedMatching +OMIM:615515 amyotrophic lateral sclerosis 19 skos:exactMatch MONDO:0014223 semapv:UnspecifiedMatching +OMIM:615516 intellectual developmental disorder, autosomal recessive 38 skos:exactMatch MONDO:0014224 semapv:UnspecifiedMatching +OMIM:615517 hemochromatosis, iia 5 skos:exactMatch MONDO:0014225 semapv:UnspecifiedMatching +OMIM:615518 immunodeficiency 13 skos:exactMatch MONDO:0014226 semapv:UnspecifiedMatching +OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:11984 semapv:UnspecifiedMatching +OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:TOM1L2 semapv:UnspecifiedMatching +OMIM:615519 TOM1L2 skos:exactMatch ncbigene:146691 semapv:UnspecifiedMatching +OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:33691 semapv:UnspecifiedMatching +OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:MIR297 semapv:UnspecifiedMatching +OMIM:615520 MIR297 skos:exactMatch ncbigene:100126354 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch UMLS:C1539880 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:28423 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:STAC3 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch ncbigene:246329 semapv:UnspecifiedMatching +OMIM:615522 cole disease skos:exactMatch MONDO:0014227 semapv:UnspecifiedMatching +OMIM:615523 corneal dystrophy, fuchs endothelial, 8 skos:exactMatch MONDO:0014228 semapv:UnspecifiedMatching +OMIM:615524 microphthalmia, syndromic 12 skos:exactMatch MONDO:0014229 semapv:UnspecifiedMatching +OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:2236 semapv:UnspecifiedMatching +OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:COPG1 semapv:UnspecifiedMatching +OMIM:615525 COPG1 skos:exactMatch ncbigene:22820 semapv:UnspecifiedMatching +OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:19356 semapv:UnspecifiedMatching +OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:COPZ2 semapv:UnspecifiedMatching +OMIM:615526 COPZ2 skos:exactMatch ncbigene:51226 semapv:UnspecifiedMatching +OMIM:615527 candidiasis, familial, 8 skos:exactMatch MONDO:0014230 semapv:UnspecifiedMatching +OMIM:615528 parkinson disease 19a, juvenile-onset skos:exactMatch MONDO:0014231 semapv:UnspecifiedMatching +OMIM:615529 craniosynostosis 5, susceptibility to skos:exactMatch MONDO:0014232 semapv:UnspecifiedMatching +OMIM:615530 parkinson disease 20, early-onset skos:exactMatch MONDO:0014233 semapv:UnspecifiedMatching +OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:28196 semapv:UnspecifiedMatching +OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:TMEM79 semapv:UnspecifiedMatching +OMIM:615531 TMEM79 skos:exactMatch ncbigene:84283 semapv:UnspecifiedMatching +OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:21056 semapv:UnspecifiedMatching +OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:ERMARD semapv:UnspecifiedMatching +OMIM:615532 ERMARD skos:exactMatch ncbigene:55780 semapv:UnspecifiedMatching +OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:30883 semapv:UnspecifiedMatching +OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:TMEM126B semapv:UnspecifiedMatching +OMIM:615533 TMEM126B skos:exactMatch ncbigene:55863 semapv:UnspecifiedMatching +OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:1321 semapv:UnspecifiedMatching +OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:TIMMDC1 semapv:UnspecifiedMatching +OMIM:615534 TIMMDC1 skos:exactMatch ncbigene:51300 semapv:UnspecifiedMatching +OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:26703 semapv:UnspecifiedMatching +OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:SYNE4 semapv:UnspecifiedMatching +OMIM:615535 SYNE4 skos:exactMatch ncbigene:163183 semapv:UnspecifiedMatching +OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:34352 semapv:UnspecifiedMatching +OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:C2orf80 semapv:UnspecifiedMatching +OMIM:615536 C2ORF80 skos:exactMatch ncbigene:389073 semapv:UnspecifiedMatching +OMIM:615537 reticulate acropigmentation of kitamura skos:exactMatch MONDO:0014234 semapv:UnspecifiedMatching +OMIM:615538 chromosome 22q13 duplication syndrome skos:exactMatch MONDO:0014235 semapv:UnspecifiedMatching +OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 skos:exactMatch MONDO:0014236 semapv:UnspecifiedMatching +OMIM:615540 deafness, autosomal recessive 76 skos:exactMatch MONDO:0014237 semapv:UnspecifiedMatching +OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch MONDO:0014238 semapv:UnspecifiedMatching +OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch Orphanet:391307 semapv:UnspecifiedMatching +OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch UMLS:C3809853 semapv:UnspecifiedMatching +OMIM:615542 testicular anomalies with or without congenital heart disease skos:exactMatch MONDO:0014239 semapv:UnspecifiedMatching +OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:28782 semapv:UnspecifiedMatching +OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:ARPIN semapv:UnspecifiedMatching +OMIM:615543 ARPIN skos:exactMatch ncbigene:348110 semapv:UnspecifiedMatching +OMIM:615544 periventricular nodular heterotopia 6 skos:exactMatch MONDO:0014240 semapv:UnspecifiedMatching +OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch MONDO:0014241 semapv:UnspecifiedMatching +OMIM:615546 van maldergem syndrome 2 skos:exactMatch MONDO:0014242 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch MONDO:0014243 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:398069 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C1859724 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching +OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 skos:exactMatch MONDO:0014244 semapv:UnspecifiedMatching +OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:25781 semapv:UnspecifiedMatching +OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:ARMC5 semapv:UnspecifiedMatching +OMIM:615549 ARMC5 skos:exactMatch ncbigene:79798 semapv:UnspecifiedMatching +OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch MONDO:0014245 semapv:UnspecifiedMatching +OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching +OMIM:615551 episodic pain syndrome, familial, 2 skos:exactMatch MONDO:0014246 semapv:UnspecifiedMatching +OMIM:615552 episodic pain syndrome, familial, 3 skos:exactMatch MONDO:0014247 semapv:UnspecifiedMatching +OMIM:615553 arthrogryposis, impaired intellectual development, and seizures skos:exactMatch MONDO:0014248 semapv:UnspecifiedMatching +OMIM:615554 multiple fibroadenomas of the breast skos:exactMatch MONDO:0014249 semapv:UnspecifiedMatching +OMIM:615555 hyperprolactinemia skos:exactMatch MONDO:0014250 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch UMLS:C1427398 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:21186 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:ATAT1 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch ncbigene:79969 semapv:UnspecifiedMatching +OMIM:615557 melioidosis, susceptibility to skos:exactMatch MONDO:0014251 semapv:UnspecifiedMatching +OMIM:615558 hypobetalipoproteinemia, familial, 1 skos:exactMatch MONDO:0014252 semapv:UnspecifiedMatching +OMIM:615559 autoimmune lymphoproliferative syndrome, iia 3 skos:exactMatch MONDO:8000024 semapv:UnspecifiedMatching +OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch MONDO:0014254 semapv:UnspecifiedMatching +OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching +OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch UMLS:C3714942 semapv:UnspecifiedMatching +OMIM:615561 complement factor B deficiency skos:exactMatch MONDO:0014255 semapv:UnspecifiedMatching +OMIM:615561 complement factor B deficiency skos:exactMatch UMLS:C3809950 semapv:UnspecifiedMatching +OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:13452 semapv:UnspecifiedMatching +OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:SPAG5 semapv:UnspecifiedMatching +OMIM:615562 SPAG5 skos:exactMatch ncbigene:10615 semapv:UnspecifiedMatching +OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:19339 semapv:UnspecifiedMatching +OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:NRBP2 semapv:UnspecifiedMatching +OMIM:615563 NRBP2 skos:exactMatch ncbigene:340371 semapv:UnspecifiedMatching +OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:16088 semapv:UnspecifiedMatching +OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:SFXN4 semapv:UnspecifiedMatching +OMIM:615564 SFXN4 skos:exactMatch ncbigene:119559 semapv:UnspecifiedMatching +OMIM:615565 retinitis pigmentosa 67 skos:exactMatch MONDO:0014256 semapv:UnspecifiedMatching +OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:15854 semapv:UnspecifiedMatching +OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:BTBD3 semapv:UnspecifiedMatching +OMIM:615566 BTBD3 skos:exactMatch ncbigene:22903 semapv:UnspecifiedMatching +OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:19041 semapv:UnspecifiedMatching +OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:COQ8B semapv:UnspecifiedMatching +OMIM:615567 COQ8B skos:exactMatch ncbigene:79934 semapv:UnspecifiedMatching +OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:48603 semapv:UnspecifiedMatching +OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:SCHLAP1 semapv:UnspecifiedMatching +OMIM:615568 SCHLAP1 skos:exactMatch ncbigene:101669767 semapv:UnspecifiedMatching +OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:16085 semapv:UnspecifiedMatching +OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:SFXN1 semapv:UnspecifiedMatching +OMIM:615569 SFXN1 skos:exactMatch ncbigene:94081 semapv:UnspecifiedMatching +OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:16086 semapv:UnspecifiedMatching +OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:SFXN2 semapv:UnspecifiedMatching +OMIM:615570 SFXN2 skos:exactMatch ncbigene:118980 semapv:UnspecifiedMatching +OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:16087 semapv:UnspecifiedMatching +OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:SFXN3 semapv:UnspecifiedMatching +OMIM:615571 SFXN3 skos:exactMatch ncbigene:81855 semapv:UnspecifiedMatching +OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:16073 semapv:UnspecifiedMatching +OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:SFXN5 semapv:UnspecifiedMatching +OMIM:615572 SFXN5 skos:exactMatch ncbigene:94097 semapv:UnspecifiedMatching +OMIM:615573 nephrotic syndrome, iia 9 skos:exactMatch MONDO:0014257 semapv:UnspecifiedMatching +OMIM:615574 asparagine synthetase deficiency skos:exactMatch MONDO:0014258 semapv:UnspecifiedMatching +OMIM:615574 asparagine synthetase deficiency skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching +OMIM:615574 asparagine synthetase deficiency skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching +OMIM:615575 neuronopathy, distal hereditary motor, autosomal dominant 6 skos:exactMatch MONDO:0014259 semapv:UnspecifiedMatching +OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:31556 semapv:UnspecifiedMatching +OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:MIR185 semapv:UnspecifiedMatching +OMIM:615576 MIR185 skos:exactMatch ncbigene:406961 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch MONDO:0014260 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:293978 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching +OMIM:615578 combined oxidative phosphorylation deficiency 18 skos:exactMatch MONDO:0014261 semapv:UnspecifiedMatching +OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:37931 semapv:UnspecifiedMatching +OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:ATXN7L3B semapv:UnspecifiedMatching +OMIM:615579 ATXN7L3B skos:exactMatch ncbigene:552889 semapv:UnspecifiedMatching +OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:29384 semapv:UnspecifiedMatching +OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:ZNF528 semapv:UnspecifiedMatching +OMIM:615580 ZNF528 skos:exactMatch ncbigene:84436 semapv:UnspecifiedMatching +OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:33855 semapv:UnspecifiedMatching +OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:DUX4L9 semapv:UnspecifiedMatching +OMIM:615581 DUX4L9 skos:exactMatch ncbigene:100288711 semapv:UnspecifiedMatching +OMIM:615582 loeys-dietz syndrome 5 skos:exactMatch MONDO:0014262 semapv:UnspecifiedMatching +OMIM:615583 verheij syndrome skos:exactMatch MONDO:0014263 semapv:UnspecifiedMatching +OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:24200 semapv:UnspecifiedMatching +OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:FAM111B semapv:UnspecifiedMatching +OMIM:615584 FAM111B skos:exactMatch ncbigene:374393 semapv:UnspecifiedMatching +OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:32434 semapv:UnspecifiedMatching +OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:SLC38A8 semapv:UnspecifiedMatching +OMIM:615585 SLC38A8 skos:exactMatch ncbigene:146167 semapv:UnspecifiedMatching +OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:28209 semapv:UnspecifiedMatching +OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:CEP19 semapv:UnspecifiedMatching +OMIM:615586 CEP19 skos:exactMatch ncbigene:84984 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch UMLS:C1425136 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:17859 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:NUP188 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch ncbigene:23511 semapv:UnspecifiedMatching +OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:25055 semapv:UnspecifiedMatching +OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:SMDT1 semapv:UnspecifiedMatching +OMIM:615588 SMDT1 skos:exactMatch ncbigene:91689 semapv:UnspecifiedMatching +OMIM:615589 otosclerosis 10 skos:exactMatch MONDO:0014264 semapv:UnspecifiedMatching +OMIM:615590 alzheimer disease 18 skos:exactMatch MONDO:0014265 semapv:UnspecifiedMatching +OMIM:615591 macular degeneration, age-related, 15 skos:exactMatch MONDO:0014266 semapv:UnspecifiedMatching +OMIM:615592 immunodeficiency 15b skos:exactMatch MONDO:0014267 semapv:UnspecifiedMatching +OMIM:615592 immunodeficiency 15b skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching +OMIM:615592 immunodeficiency 15b skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching +OMIM:615593 immunodeficiency 16 skos:exactMatch MONDO:0014268 semapv:UnspecifiedMatching +OMIM:615594 APELA skos:exactMatch hgnc.symbol:48925 semapv:UnspecifiedMatching +OMIM:615594 APELA skos:exactMatch hgnc.symbol:APELA semapv:UnspecifiedMatching +OMIM:615594 APELA skos:exactMatch ncbigene:100506013 semapv:UnspecifiedMatching +OMIM:615595 combined oxidative phosphorylation deficiency 19 skos:exactMatch MONDO:0014269 semapv:UnspecifiedMatching +OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch MONDO:0014270 semapv:UnspecifiedMatching +OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch Orphanet:370921 semapv:UnspecifiedMatching +OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching +OMIM:615597 congenital disorder of glycosylation, iia ix skos:exactMatch MONDO:0014271 semapv:UnspecifiedMatching +OMIM:615598 palmoplantar keratoderma, nagashima iia skos:exactMatch MONDO:0014272 semapv:UnspecifiedMatching +OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch MONDO:0014273 semapv:UnspecifiedMatching +OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching +OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch UMLS:C3810080 semapv:UnspecifiedMatching +OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:26421 semapv:UnspecifiedMatching +OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:ZNF582 semapv:UnspecifiedMatching +OMIM:615600 ZNF582 skos:exactMatch ncbigene:147948 semapv:UnspecifiedMatching +OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:27949 semapv:UnspecifiedMatching +OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:GADL1 semapv:UnspecifiedMatching +OMIM:615601 GADL1 skos:exactMatch ncbigene:339896 semapv:UnspecifiedMatching +OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:25632 semapv:UnspecifiedMatching +OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:CPPED1 semapv:UnspecifiedMatching +OMIM:615603 CPPED1 skos:exactMatch ncbigene:55313 semapv:UnspecifiedMatching +OMIM:615604 l-ferritin deficiency skos:exactMatch MONDO:0014274 semapv:UnspecifiedMatching +OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch MONDO:0014275 semapv:UnspecifiedMatching +OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching +OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch UMLS:C3810100 semapv:UnspecifiedMatching +OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:26131 semapv:UnspecifiedMatching +OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:BTNL8 semapv:UnspecifiedMatching +OMIM:615606 BTNL8 skos:exactMatch ncbigene:79908 semapv:UnspecifiedMatching +OMIM:615607 immunodeficiency 17 skos:exactMatch MONDO:0014276 semapv:UnspecifiedMatching +OMIM:615608 VSIR skos:exactMatch UMLS:C1824302 semapv:UnspecifiedMatching +OMIM:615608 VSIR skos:exactMatch hgnc.symbol:30085 semapv:UnspecifiedMatching +OMIM:615608 VSIR skos:exactMatch hgnc.symbol:VSIR semapv:UnspecifiedMatching +OMIM:615608 VSIR skos:exactMatch ncbigene:64115 semapv:UnspecifiedMatching +OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:30553 semapv:UnspecifiedMatching +OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:SIAH3 semapv:UnspecifiedMatching +OMIM:615609 SIAH3 skos:exactMatch ncbigene:283514 semapv:UnspecifiedMatching +OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:26308 semapv:UnspecifiedMatching +OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:CDHR3 semapv:UnspecifiedMatching +OMIM:615610 CDHR3 skos:exactMatch ncbigene:222256 semapv:UnspecifiedMatching +OMIM:615611 CLPX skos:exactMatch hgnc.symbol:2088 semapv:UnspecifiedMatching +OMIM:615611 CLPX skos:exactMatch hgnc.symbol:CLPX semapv:UnspecifiedMatching +OMIM:615611 CLPX skos:exactMatch ncbigene:10845 semapv:UnspecifiedMatching +OMIM:615612 developmental dysplasia of the hip 2 skos:exactMatch MONDO:0014277 semapv:UnspecifiedMatching +OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:48612 semapv:UnspecifiedMatching +OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:HCCAT5 semapv:UnspecifiedMatching +OMIM:615613 HCCAT5 skos:exactMatch ncbigene:283902 semapv:UnspecifiedMatching +OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:21475 semapv:UnspecifiedMatching +OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:MMS22L semapv:UnspecifiedMatching +OMIM:615614 MMS22L skos:exactMatch ncbigene:253714 semapv:UnspecifiedMatching +OMIM:615615 immunodeficiency 18 skos:exactMatch MONDO:0014278 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch MONDO:0000908 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching +OMIM:615617 immunodeficiency 19 skos:exactMatch MONDO:0014280 semapv:UnspecifiedMatching +OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:22954 semapv:UnspecifiedMatching +OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:POGLUT1 semapv:UnspecifiedMatching +OMIM:615618 POGLUT1 skos:exactMatch ncbigene:56983 semapv:UnspecifiedMatching +OMIM:615619 cholangiocarcinoma, susceptibility to skos:exactMatch MONDO:0014281 semapv:UnspecifiedMatching +OMIM:615620 KPTN skos:exactMatch hgnc.symbol:6404 semapv:UnspecifiedMatching +OMIM:615620 KPTN skos:exactMatch hgnc.symbol:KPTN semapv:UnspecifiedMatching +OMIM:615620 KPTN skos:exactMatch ncbigene:11133 semapv:UnspecifiedMatching +OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:25559 semapv:UnspecifiedMatching +OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:RESF1 semapv:UnspecifiedMatching +OMIM:615621 RESF1 skos:exactMatch ncbigene:55196 semapv:UnspecifiedMatching +OMIM:615622 THRIL skos:exactMatch hgnc.symbol:49503 semapv:UnspecifiedMatching +OMIM:615622 THRIL skos:exactMatch hgnc.symbol:THRIL semapv:UnspecifiedMatching +OMIM:615622 THRIL skos:exactMatch ncbigene:102659353 semapv:UnspecifiedMatching +OMIM:615623 COA7 skos:exactMatch hgnc.symbol:25716 semapv:UnspecifiedMatching +OMIM:615623 COA7 skos:exactMatch hgnc.symbol:COA7 semapv:UnspecifiedMatching +OMIM:615623 COA7 skos:exactMatch ncbigene:65260 semapv:UnspecifiedMatching +OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:37078 semapv:UnspecifiedMatching +OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:CRNDE semapv:UnspecifiedMatching +OMIM:615624 CRNDE skos:exactMatch ncbigene:643911 semapv:UnspecifiedMatching +OMIM:615625 spastic paraplegia 72a, autosomal dominant skos:exactMatch MONDO:0014282 semapv:UnspecifiedMatching +OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:26929 semapv:UnspecifiedMatching +OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:CDIN1 semapv:UnspecifiedMatching +OMIM:615626 CDIN1 skos:exactMatch ncbigene:84529 semapv:UnspecifiedMatching +OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:14251 semapv:UnspecifiedMatching +OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:BRI3BP semapv:UnspecifiedMatching +OMIM:615627 BRI3BP skos:exactMatch ncbigene:140707 semapv:UnspecifiedMatching +OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:1109 semapv:UnspecifiedMatching +OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:BRI3 semapv:UnspecifiedMatching +OMIM:615628 BRI3 skos:exactMatch ncbigene:25798 semapv:UnspecifiedMatching +OMIM:615629 deafness, autosomal dominant 56 skos:exactMatch MONDO:0014283 semapv:UnspecifiedMatching +OMIM:615630 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch MONDO:0014284 semapv:UnspecifiedMatching +OMIM:615631 anemia, congenital dyserythropoietic, iia ib skos:exactMatch MONDO:0014285 semapv:UnspecifiedMatching +OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch MONDO:0014286 semapv:UnspecifiedMatching +OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching +OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching +OMIM:615633 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch MONDO:0014287 semapv:UnspecifiedMatching +OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:28184 semapv:UnspecifiedMatching +OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:CHCHD6 semapv:UnspecifiedMatching +OMIM:615634 CHCHD6 skos:exactMatch ncbigene:84303 semapv:UnspecifiedMatching +OMIM:615635 ZFR skos:exactMatch hgnc.symbol:17277 semapv:UnspecifiedMatching +OMIM:615635 ZFR skos:exactMatch hgnc.symbol:ZFR semapv:UnspecifiedMatching +OMIM:615635 ZFR skos:exactMatch ncbigene:51663 semapv:UnspecifiedMatching +OMIM:615636 joubert syndrome 21 skos:exactMatch MONDO:0014288 semapv:UnspecifiedMatching +OMIM:615637 intellectual developmental disorder, autosomal recessive 41 skos:exactMatch MONDO:0014289 semapv:UnspecifiedMatching +OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:24305 semapv:UnspecifiedMatching +OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:NCAPD2 semapv:UnspecifiedMatching +OMIM:615638 NCAPD2 skos:exactMatch ncbigene:9918 semapv:UnspecifiedMatching +OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:32567 semapv:UnspecifiedMatching +OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:SCARNA10 semapv:UnspecifiedMatching +OMIM:615639 SCARNA10 skos:exactMatch ncbigene:692148 semapv:UnspecifiedMatching +OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:32561 semapv:UnspecifiedMatching +OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:SCARNA5 semapv:UnspecifiedMatching +OMIM:615640 SCARNA5 skos:exactMatch ncbigene:677775 semapv:UnspecifiedMatching +OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:32562 semapv:UnspecifiedMatching +OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:SCARNA6 semapv:UnspecifiedMatching +OMIM:615641 SCARNA6 skos:exactMatch ncbigene:677772 semapv:UnspecifiedMatching +OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:32569 semapv:UnspecifiedMatching +OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:SCARNA12 semapv:UnspecifiedMatching +OMIM:615642 SCARNA12 skos:exactMatch ncbigene:677777 semapv:UnspecifiedMatching +OMIM:615643 neurodegeneration with brain iron accumulation 6 skos:exactMatch MONDO:0014290 semapv:UnspecifiedMatching +OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:32563 semapv:UnspecifiedMatching +OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:SCARNA7 semapv:UnspecifiedMatching +OMIM:615644 SCARNA7 skos:exactMatch ncbigene:677767 semapv:UnspecifiedMatching +OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:32574 semapv:UnspecifiedMatching +OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:SCARNA17 semapv:UnspecifiedMatching +OMIM:615645 SCARNA17 skos:exactMatch ncbigene:677769 semapv:UnspecifiedMatching +OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:32564 semapv:UnspecifiedMatching +OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:SCARNA8 semapv:UnspecifiedMatching +OMIM:615646 SCARNA8 skos:exactMatch ncbigene:677776 semapv:UnspecifiedMatching +OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:33802 semapv:UnspecifiedMatching +OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:TEX19 semapv:UnspecifiedMatching +OMIM:615647 TEX19 skos:exactMatch ncbigene:400629 semapv:UnspecifiedMatching +OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:29889 semapv:UnspecifiedMatching +OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:NLRC3 semapv:UnspecifiedMatching +OMIM:615648 NLRC3 skos:exactMatch ncbigene:197358 semapv:UnspecifiedMatching +OMIM:615649 deafness, autosomal dominant 54 skos:exactMatch MONDO:0014291 semapv:UnspecifiedMatching +OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:24499 semapv:UnspecifiedMatching +OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:RGS22 semapv:UnspecifiedMatching +OMIM:615650 RGS22 skos:exactMatch ncbigene:26166 semapv:UnspecifiedMatching +OMIM:615651 leukoencephalopathy with ataxia skos:exactMatch MONDO:0014292 semapv:UnspecifiedMatching +OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:20999 semapv:UnspecifiedMatching +OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:ACOT13 semapv:UnspecifiedMatching +OMIM:615652 ACOT13 skos:exactMatch ncbigene:55856 semapv:UnspecifiedMatching +OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:26755 semapv:UnspecifiedMatching +OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:THEM5 semapv:UnspecifiedMatching +OMIM:615653 THEM5 skos:exactMatch ncbigene:284486 semapv:UnspecifiedMatching +OMIM:615654 deafness, autosomal dominant 58 skos:exactMatch MONDO:0014293 semapv:UnspecifiedMatching +OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:25249 semapv:UnspecifiedMatching +OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:ZRANB3 semapv:UnspecifiedMatching +OMIM:615655 ZRANB3 skos:exactMatch ncbigene:84083 semapv:UnspecifiedMatching +OMIM:615656 chromosome 15q11.2 deletion syndrome skos:exactMatch MONDO:0014294 semapv:UnspecifiedMatching +OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:31529 semapv:UnspecifiedMatching +OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:MIR142 semapv:UnspecifiedMatching +OMIM:615657 MIR142 skos:exactMatch ncbigene:406934 semapv:UnspecifiedMatching +OMIM:615658 spastic paraplegia 57, autosomal recessive skos:exactMatch MONDO:0014295 semapv:UnspecifiedMatching +OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:30366 semapv:UnspecifiedMatching +OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:TMEM131 semapv:UnspecifiedMatching +OMIM:615659 TMEM131 skos:exactMatch ncbigene:23505 semapv:UnspecifiedMatching +OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:10299 semapv:UnspecifiedMatching +OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:RPL10A semapv:UnspecifiedMatching +OMIM:615660 RPL10A skos:exactMatch ncbigene:4736 semapv:UnspecifiedMatching +OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:28194 semapv:UnspecifiedMatching +OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:PDCD2L semapv:UnspecifiedMatching +OMIM:615661 PDCD2L skos:exactMatch ncbigene:84306 semapv:UnspecifiedMatching +OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:14220 semapv:UnspecifiedMatching +OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:SERPINB12 semapv:UnspecifiedMatching +OMIM:615662 SERPINB12 skos:exactMatch ncbigene:89777 semapv:UnspecifiedMatching +OMIM:615663 warburg micro syndrome 4 skos:exactMatch MONDO:0014296 semapv:UnspecifiedMatching +OMIM:615663 warburg micro syndrome 4 skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching +OMIM:615663 warburg micro syndrome 4 skos:exactMatch UMLS:C3810265 semapv:UnspecifiedMatching +OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:29109 semapv:UnspecifiedMatching +OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:TESPA1 semapv:UnspecifiedMatching +OMIM:615664 TESPA1 skos:exactMatch ncbigene:9840 semapv:UnspecifiedMatching +OMIM:615665 joubert syndrome 22 skos:exactMatch MONDO:0014297 semapv:UnspecifiedMatching +OMIM:615665 joubert syndrome 22 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching +OMIM:615665 joubert syndrome 22 skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching +OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:26725 semapv:UnspecifiedMatching +OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:TRMT9B semapv:UnspecifiedMatching +OMIM:615666 KIAA1456 skos:exactMatch ncbigene:57604 semapv:UnspecifiedMatching +OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:26922 semapv:UnspecifiedMatching +OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:ERCC6L2 semapv:UnspecifiedMatching +OMIM:615667 ERCC6L2 skos:exactMatch ncbigene:375748 semapv:UnspecifiedMatching +OMIM:615668 chromosome 5q12 deletion syndrome skos:exactMatch MONDO:0014298 semapv:UnspecifiedMatching +OMIM:615669 EMB skos:exactMatch hgnc.symbol:30465 semapv:UnspecifiedMatching +OMIM:615669 EMB skos:exactMatch hgnc.symbol:EMB semapv:UnspecifiedMatching +OMIM:615669 EMB skos:exactMatch ncbigene:133418 semapv:UnspecifiedMatching +OMIM:615670 schwannomatosis 2 skos:exactMatch MONDO:0014299 semapv:UnspecifiedMatching +OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:20493 semapv:UnspecifiedMatching +OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:SETD3 semapv:UnspecifiedMatching +OMIM:615671 SETD3 skos:exactMatch ncbigene:84193 semapv:UnspecifiedMatching +OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:32088 semapv:UnspecifiedMatching +OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:MIR497 semapv:UnspecifiedMatching +OMIM:615672 MIR497 skos:exactMatch ncbigene:574456 semapv:UnspecifiedMatching +OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch MONDO:0014300 semapv:UnspecifiedMatching +OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching +OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching +OMIM:615674 dowling-degos disease 3 skos:exactMatch MONDO:0014301 semapv:UnspecifiedMatching +OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:31622 semapv:UnspecifiedMatching +OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:MIR301A semapv:UnspecifiedMatching +OMIM:615675 MIR301A skos:exactMatch ncbigene:407027 semapv:UnspecifiedMatching +OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:43642 semapv:UnspecifiedMatching +OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:TDRG1 semapv:UnspecifiedMatching +OMIM:615676 TDRG1 skos:exactMatch ncbigene:732253 semapv:UnspecifiedMatching +OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:15995 semapv:UnspecifiedMatching +OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:SERPINA9 semapv:UnspecifiedMatching +OMIM:615677 SERPINA9 skos:exactMatch ncbigene:327657 semapv:UnspecifiedMatching +OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:15567 semapv:UnspecifiedMatching +OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:SH3BGRL2 semapv:UnspecifiedMatching +OMIM:615678 SH3BGRL2 skos:exactMatch ncbigene:83699 semapv:UnspecifiedMatching +OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:15568 semapv:UnspecifiedMatching +OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:SH3BGRL3 semapv:UnspecifiedMatching +OMIM:615679 SH3BGRL3 skos:exactMatch ncbigene:83442 semapv:UnspecifiedMatching +OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:33701 semapv:UnspecifiedMatching +OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:CARD16 semapv:UnspecifiedMatching +OMIM:615680 CARD16 skos:exactMatch ncbigene:114769 semapv:UnspecifiedMatching +OMIM:615681 spastic paraplegia 62, autosomal recessive skos:exactMatch MONDO:0014302 semapv:UnspecifiedMatching +OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:14221 semapv:UnspecifiedMatching +OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:SERPINB11 semapv:UnspecifiedMatching +OMIM:615682 SERPINB11 skos:exactMatch ncbigene:89778 semapv:UnspecifiedMatching +OMIM:615683 spastic paraplegia 64, autosomal recessive skos:exactMatch MONDO:0014303 semapv:UnspecifiedMatching +OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:20193 semapv:UnspecifiedMatching +OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:HFM1 semapv:UnspecifiedMatching +OMIM:615684 HFM1 skos:exactMatch ncbigene:164045 semapv:UnspecifiedMatching +OMIM:615685 spastic paraplegia 61, autosomal recessive skos:exactMatch MONDO:0014304 semapv:UnspecifiedMatching +OMIM:615686 spastic paraplegia 63, autosomal recessive skos:exactMatch MONDO:0014305 semapv:UnspecifiedMatching +OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:38606 semapv:UnspecifiedMatching +OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:BECN2 semapv:UnspecifiedMatching +OMIM:615687 BECN2 skos:exactMatch ncbigene:441925 semapv:UnspecifiedMatching +OMIM:615688 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome skos:exactMatch MONDO:0014306 semapv:UnspecifiedMatching +OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:20824 semapv:UnspecifiedMatching +OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:AMIGO1 semapv:UnspecifiedMatching +OMIM:615689 AMIGO1 skos:exactMatch ncbigene:57463 semapv:UnspecifiedMatching +OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:24073 semapv:UnspecifiedMatching +OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:AMIGO2 semapv:UnspecifiedMatching +OMIM:615690 AMIGO2 skos:exactMatch ncbigene:347902 semapv:UnspecifiedMatching +OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:24075 semapv:UnspecifiedMatching +OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:AMIGO3 semapv:UnspecifiedMatching +OMIM:615691 AMIGO3 skos:exactMatch ncbigene:386724 semapv:UnspecifiedMatching +OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:28474 semapv:UnspecifiedMatching +OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:CHID1 semapv:UnspecifiedMatching +OMIM:615692 CHID1 skos:exactMatch ncbigene:66005 semapv:UnspecifiedMatching +OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:33789 semapv:UnspecifiedMatching +OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:COLCA1 semapv:UnspecifiedMatching +OMIM:615693 COLCA1 skos:exactMatch ncbigene:399948 semapv:UnspecifiedMatching +OMIM:615694 POU2AF3 skos:exactMatch hgnc.symbol:POU2AF3 semapv:UnspecifiedMatching +OMIM:615694 POU2AF3 skos:exactMatch ncbigene:120376 semapv:UnspecifiedMatching +OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:28591 semapv:UnspecifiedMatching +OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:HEXIM2 semapv:UnspecifiedMatching +OMIM:615695 HEXIM2 skos:exactMatch ncbigene:124790 semapv:UnspecifiedMatching +OMIM:615696 dowling-degos disease 4 skos:exactMatch MONDO:0014307 semapv:UnspecifiedMatching +OMIM:615697 epilepsy, familial temporal lobe, 6 skos:exactMatch MONDO:0014308 semapv:UnspecifiedMatching +OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:17158 semapv:UnspecifiedMatching +OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:PLD3 semapv:UnspecifiedMatching +OMIM:615698 PLD3 skos:exactMatch ncbigene:23646 semapv:UnspecifiedMatching +OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:28449 semapv:UnspecifiedMatching +OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:ZFTA semapv:UnspecifiedMatching +OMIM:615699 ZFTA skos:exactMatch ncbigene:65998 semapv:UnspecifiedMatching +OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:30261 semapv:UnspecifiedMatching +OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:PYDC1 semapv:UnspecifiedMatching +OMIM:615700 PYDC1 skos:exactMatch ncbigene:260434 semapv:UnspecifiedMatching +OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:33512 semapv:UnspecifiedMatching +OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:PYDC2 semapv:UnspecifiedMatching +OMIM:615701 PYDC2 skos:exactMatch ncbigene:152138 semapv:UnspecifiedMatching +OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:15255 semapv:UnspecifiedMatching +OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:OR5AN1 semapv:UnspecifiedMatching +OMIM:615702 OR5AN1 skos:exactMatch ncbigene:390195 semapv:UnspecifiedMatching +OMIM:615703 morbid obesity and spermatogenic failure skos:exactMatch MONDO:0014309 semapv:UnspecifiedMatching +OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis skos:exactMatch MONDO:0014310 semapv:UnspecifiedMatching +OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch MONDO:0014311 semapv:UnspecifiedMatching +OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch Orphanet:404499 semapv:UnspecifiedMatching +OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching +OMIM:615706 auriculocondylar syndrome 3 skos:exactMatch MONDO:0014312 semapv:UnspecifiedMatching +OMIM:615707 immunodeficiency 20 skos:exactMatch MONDO:0014313 semapv:UnspecifiedMatching +OMIM:615707 immunodeficiency 20 skos:exactMatch Orphanet:437552 semapv:UnspecifiedMatching +OMIM:615707 immunodeficiency 20 skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching +OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:21091 semapv:UnspecifiedMatching +OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:ZNF451 semapv:UnspecifiedMatching +OMIM:615708 ZNF451 skos:exactMatch ncbigene:26036 semapv:UnspecifiedMatching +OMIM:615709 sacral agenesis with vertebral anomalies skos:exactMatch MONDO:0014314 semapv:UnspecifiedMatching +OMIM:615710 mitchell-riley syndrome skos:exactMatch MONDO:0017400 semapv:UnspecifiedMatching +OMIM:615710 mitchell-riley syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching +OMIM:615710 mitchell-riley syndrome skos:exactMatch UMLS:C2748662 semapv:UnspecifiedMatching +OMIM:615711 alzheimer disease 19 skos:exactMatch MONDO:0014316 semapv:UnspecifiedMatching +OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:25118 semapv:UnspecifiedMatching +OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:OTULIN semapv:UnspecifiedMatching +OMIM:615712 OTULIN skos:exactMatch ncbigene:90268 semapv:UnspecifiedMatching +OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:9397 semapv:UnspecifiedMatching +OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:ZMYND8 semapv:UnspecifiedMatching +OMIM:615713 ZMYND8 skos:exactMatch ncbigene:23613 semapv:UnspecifiedMatching +OMIM:615714 POLR1HASP skos:exactMatch UMLS:C1422276 semapv:UnspecifiedMatching +OMIM:615714 POLR1HASP skos:exactMatch hgnc.symbol:POLR1HASP semapv:UnspecifiedMatching +OMIM:615714 POLR1HASP skos:exactMatch ncbigene:80862 semapv:UnspecifiedMatching +OMIM:615715 bone marrow failure syndrome 2 skos:exactMatch MONDO:0014317 semapv:UnspecifiedMatching +OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch MONDO:0014318 semapv:UnspecifiedMatching +OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching +OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching +OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:16178 semapv:UnspecifiedMatching +OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:BPIFB3 semapv:UnspecifiedMatching +OMIM:615717 BPIFB3 skos:exactMatch ncbigene:359710 semapv:UnspecifiedMatching +OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:16179 semapv:UnspecifiedMatching +OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:BPIFB4 semapv:UnspecifiedMatching +OMIM:615718 BPIFB4 skos:exactMatch ncbigene:149954 semapv:UnspecifiedMatching +OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:44088 semapv:UnspecifiedMatching +OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:TUNAR semapv:UnspecifiedMatching +OMIM:615719 TUNAR skos:exactMatch ncbigene:100507043 semapv:UnspecifiedMatching +OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:29326 semapv:UnspecifiedMatching +OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:SLC7A14 semapv:UnspecifiedMatching +OMIM:615720 SLC7A14 skos:exactMatch ncbigene:57709 semapv:UnspecifiedMatching +OMIM:615721 renal hypodysplasia/aplasia 2 skos:exactMatch MONDO:0014319 semapv:UnspecifiedMatching +OMIM:615722 bosch-boonstra-schaaf optic atrophy syndrome skos:exactMatch MONDO:0014320 semapv:UnspecifiedMatching +OMIM:615723 premature ovarian failure 8 skos:exactMatch MONDO:0014321 semapv:UnspecifiedMatching +OMIM:615724 premature ovarian failure 9 skos:exactMatch MONDO:0014322 semapv:UnspecifiedMatching +OMIM:615725 retinitis pigmentosa 68 skos:exactMatch MONDO:0014323 semapv:UnspecifiedMatching +OMIM:615726 pachyonychia congenita 3 skos:exactMatch MONDO:0014324 semapv:UnspecifiedMatching +OMIM:615726 pachyonychia congenita 3 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +OMIM:615726 pachyonychia congenita 3 skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching +OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:16346 semapv:UnspecifiedMatching +OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:KIR2DL5B semapv:UnspecifiedMatching +OMIM:615727 KIR2DL5B skos:exactMatch ncbigene:553128 semapv:UnspecifiedMatching +OMIM:615728 pachyonychia congenita 4 skos:exactMatch MONDO:0014325 semapv:UnspecifiedMatching +OMIM:615728 pachyonychia congenita 4 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +OMIM:615728 pachyonychia congenita 4 skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching +OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:29158 semapv:UnspecifiedMatching +OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:SBNO2 semapv:UnspecifiedMatching +OMIM:615729 SBNO2 skos:exactMatch ncbigene:22904 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch UMLS:C1426078 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:19190 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:DOCK7 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch ncbigene:85440 semapv:UnspecifiedMatching +OMIM:615731 nemaline myopathy 9 skos:exactMatch MONDO:0014326 semapv:UnspecifiedMatching +OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:16385 semapv:UnspecifiedMatching +OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:NSUN5 semapv:UnspecifiedMatching +OMIM:615732 NSUN5 skos:exactMatch ncbigene:55695 semapv:UnspecifiedMatching +OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:16405 semapv:UnspecifiedMatching +OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:BUD23 semapv:UnspecifiedMatching +OMIM:615733 BUD23 skos:exactMatch ncbigene:114049 semapv:UnspecifiedMatching +OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:29141 semapv:UnspecifiedMatching +OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:WDR47 semapv:UnspecifiedMatching +OMIM:615734 WDR47 skos:exactMatch ncbigene:22911 semapv:UnspecifiedMatching +OMIM:615735 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch MONDO:0014327 semapv:UnspecifiedMatching +OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:35454 semapv:UnspecifiedMatching +OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:ECSCR semapv:UnspecifiedMatching +OMIM:615736 ECSCR skos:exactMatch ncbigene:641700 semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch UMLS:C2681534 semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:32565 semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:IZUMO1R semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch ncbigene:390243 semapv:UnspecifiedMatching +OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:1172 semapv:UnspecifiedMatching +OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:VPS51 semapv:UnspecifiedMatching +OMIM:615738 VPS51 skos:exactMatch ncbigene:738 semapv:UnspecifiedMatching +OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:9223 semapv:UnspecifiedMatching +OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:POU5F1B semapv:UnspecifiedMatching +OMIM:615739 POU5F1B skos:exactMatch ncbigene:5462 semapv:UnspecifiedMatching +OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:19166 semapv:UnspecifiedMatching +OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:TBC1D5 semapv:UnspecifiedMatching +OMIM:615740 TBC1D5 skos:exactMatch ncbigene:9779 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch UMLS:C1537445 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:28969 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:DELE1 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch ncbigene:9812 semapv:UnspecifiedMatching +OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:21965 semapv:UnspecifiedMatching +OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:RGP1 semapv:UnspecifiedMatching +OMIM:615742 RGP1 skos:exactMatch ncbigene:9827 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch UMLS:C1822689 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch UMLS:C3810406 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:25566 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:SETD5 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch ncbigene:55209 semapv:UnspecifiedMatching +OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch MONDO:0014328 semapv:UnspecifiedMatching +OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching +OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching +OMIM:615745 atrial standstill 2 skos:exactMatch MONDO:0014329 semapv:UnspecifiedMatching +OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:28160 semapv:UnspecifiedMatching +OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:ZXDC semapv:UnspecifiedMatching +OMIM:615746 ZXDC skos:exactMatch ncbigene:79364 semapv:UnspecifiedMatching +OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:1820 semapv:UnspecifiedMatching +OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:CEACAM8 semapv:UnspecifiedMatching +OMIM:615747 CEACAM8 skos:exactMatch ncbigene:1088 semapv:UnspecifiedMatching +OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:29174 semapv:UnspecifiedMatching +OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:WASHC4 semapv:UnspecifiedMatching +OMIM:615748 WASHC4 skos:exactMatch ncbigene:23325 semapv:UnspecifiedMatching +OMIM:615749 eculizumab, poor response to skos:exactMatch MONDO:0014330 semapv:UnspecifiedMatching +OMIM:615750 moyamoya disease 6 with or without achalasia skos:exactMatch MONDO:0014331 semapv:UnspecifiedMatching +OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to skos:exactMatch MONDO:0014332 semapv:UnspecifiedMatching +OMIM:615752 cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian) skos:exactMatch MONDO:0014333 semapv:UnspecifiedMatching +OMIM:615753 POM121 skos:exactMatch hgnc.symbol:19702 semapv:UnspecifiedMatching +OMIM:615753 POM121 skos:exactMatch hgnc.symbol:POM121 semapv:UnspecifiedMatching +OMIM:615753 POM121 skos:exactMatch ncbigene:9883 semapv:UnspecifiedMatching +OMIM:615754 POM121C skos:exactMatch hgnc.symbol:34005 semapv:UnspecifiedMatching +OMIM:615754 POM121C skos:exactMatch hgnc.symbol:POM121C semapv:UnspecifiedMatching +OMIM:615754 POM121C skos:exactMatch ncbigene:100101267 semapv:UnspecifiedMatching +OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:29980 semapv:UnspecifiedMatching +OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:FOXR1 semapv:UnspecifiedMatching +OMIM:615755 FOXR1 skos:exactMatch ncbigene:283150 semapv:UnspecifiedMatching +OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:28997 semapv:UnspecifiedMatching +OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:SECISBP2L semapv:UnspecifiedMatching +OMIM:615756 SECISBP2L skos:exactMatch ncbigene:9728 semapv:UnspecifiedMatching +OMIM:615757 KIZ skos:exactMatch hgnc.symbol:15865 semapv:UnspecifiedMatching +OMIM:615757 KIZ skos:exactMatch hgnc.symbol:KIZ semapv:UnspecifiedMatching +OMIM:615757 KIZ skos:exactMatch ncbigene:55857 semapv:UnspecifiedMatching +OMIM:615758 immunodeficiency 22 skos:exactMatch MONDO:0014334 semapv:UnspecifiedMatching +OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:29508 semapv:UnspecifiedMatching +OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:KIDINS220 semapv:UnspecifiedMatching +OMIM:615759 KIDINS220 skos:exactMatch ncbigene:57498 semapv:UnspecifiedMatching +OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy skos:exactMatch MONDO:0014335 semapv:UnspecifiedMatching +OMIM:615761 intellectual developmental disorder, autosomal dominant 23 skos:exactMatch MONDO:0014336 semapv:UnspecifiedMatching +OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:33862 semapv:UnspecifiedMatching +OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:GRXCR2 semapv:UnspecifiedMatching +OMIM:615762 GRXCR2 skos:exactMatch ncbigene:643226 semapv:UnspecifiedMatching +OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 skos:exactMatch MONDO:0014337 semapv:UnspecifiedMatching +OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:37824 semapv:UnspecifiedMatching +OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:LSINCT5 semapv:UnspecifiedMatching +OMIM:615764 LSINCT5 skos:exactMatch ncbigene:101234261 semapv:UnspecifiedMatching +OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:23093 semapv:UnspecifiedMatching +OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:SLC16A11 semapv:UnspecifiedMatching +OMIM:615765 SLC16A11 skos:exactMatch ncbigene:162515 semapv:UnspecifiedMatching +OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:29121 semapv:UnspecifiedMatching +OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:MTCL1 semapv:UnspecifiedMatching +OMIM:615766 MTCL1 skos:exactMatch ncbigene:23255 semapv:UnspecifiedMatching +OMIM:615767 immunodeficiency, common variable, 11 skos:exactMatch MONDO:0014338 semapv:UnspecifiedMatching +OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch MONDO:0014339 semapv:UnspecifiedMatching +OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch Orphanet:412057 semapv:UnspecifiedMatching +OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch UMLS:C4014261 semapv:UnspecifiedMatching +OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:29138 semapv:UnspecifiedMatching +OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:FAM169A semapv:UnspecifiedMatching +OMIM:615769 FAM169A skos:exactMatch ncbigene:26049 semapv:UnspecifiedMatching +OMIM:615770 atrial fibrillation, familial, 15 skos:exactMatch MONDO:0014340 semapv:UnspecifiedMatching +OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 skos:exactMatch MONDO:0014341 semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch UMLS:C3891272 semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:50357 semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:WFDC21P semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch ncbigene:645638 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch UMLS:C1427742 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:21752 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:SDHAF3 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch ncbigene:57001 semapv:UnspecifiedMatching +OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch MONDO:0014342 semapv:UnspecifiedMatching +OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch Orphanet:404466 semapv:UnspecifiedMatching +OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching +OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:35245 semapv:UnspecifiedMatching +OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:SYCE3 semapv:UnspecifiedMatching +OMIM:615775 SYCE3 skos:exactMatch ncbigene:644186 semapv:UnspecifiedMatching +OMIM:615776 CROCC skos:exactMatch hgnc.symbol:21299 semapv:UnspecifiedMatching +OMIM:615776 CROCC skos:exactMatch hgnc.symbol:CROCC semapv:UnspecifiedMatching +OMIM:615776 CROCC skos:exactMatch ncbigene:9696 semapv:UnspecifiedMatching +OMIM:615777 desbuquois dysplasia 2 skos:exactMatch MONDO:0014343 semapv:UnspecifiedMatching +OMIM:615777 desbuquois dysplasia 2 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching +OMIM:615777 desbuquois dysplasia 2 skos:exactMatch UMLS:C4014294 semapv:UnspecifiedMatching +OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:2036 semapv:UnspecifiedMatching +OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:CLDN15 semapv:UnspecifiedMatching +OMIM:615778 CLDN15 skos:exactMatch ncbigene:24146 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch MONDO:0014344 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:98722 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99067 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99068 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching +OMIM:615780 retinitis pigmentosa 69 skos:exactMatch MONDO:0014345 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch UMLS:C1425929 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:18971 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:AP1S3 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch ncbigene:130340 semapv:UnspecifiedMatching +OMIM:615782 CIART skos:exactMatch hgnc.symbol:25200 semapv:UnspecifiedMatching +OMIM:615782 CIART skos:exactMatch hgnc.symbol:CIART semapv:UnspecifiedMatching +OMIM:615782 CIART skos:exactMatch ncbigene:148523 semapv:UnspecifiedMatching +OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:22030 semapv:UnspecifiedMatching +OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:NAT16 semapv:UnspecifiedMatching +OMIM:615783 NAT16 skos:exactMatch ncbigene:375607 semapv:UnspecifiedMatching +OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:4559 semapv:UnspecifiedMatching +OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:GPX7 semapv:UnspecifiedMatching +OMIM:615784 GPX7 skos:exactMatch ncbigene:2882 semapv:UnspecifiedMatching +OMIM:615785 white sponge nevus 2 skos:exactMatch MONDO:0014346 semapv:UnspecifiedMatching +OMIM:615785 white sponge nevus 2 skos:exactMatch Orphanet:171723 semapv:UnspecifiedMatching +OMIM:615785 white sponge nevus 2 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching +OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:23846 semapv:UnspecifiedMatching +OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:NACC2 semapv:UnspecifiedMatching +OMIM:615786 NACC2 skos:exactMatch ncbigene:138151 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch UMLS:C3471268 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch UMLS:C5394591 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:26404 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:NADK2 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch ncbigene:133686 semapv:UnspecifiedMatching +OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:26916 semapv:UnspecifiedMatching +OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:N4BP2L2 semapv:UnspecifiedMatching +OMIM:615788 N4BP2L2 skos:exactMatch ncbigene:10443 semapv:UnspecifiedMatching +OMIM:615789 short stature with microcephaly and distinctive facies skos:exactMatch MONDO:0014347 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch UMLS:C1826617 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:25230 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:AHDC1 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch ncbigene:27245 semapv:UnspecifiedMatching +OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:26194 semapv:UnspecifiedMatching +OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:NUDT18 semapv:UnspecifiedMatching +OMIM:615791 NUDT18 skos:exactMatch ncbigene:79873 semapv:UnspecifiedMatching +OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:23063 semapv:UnspecifiedMatching +OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:NUDT15 semapv:UnspecifiedMatching +OMIM:615792 NUDT15 skos:exactMatch ncbigene:55270 semapv:UnspecifiedMatching +OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:16213 semapv:UnspecifiedMatching +OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:ISM1 semapv:UnspecifiedMatching +OMIM:615793 ISM1 skos:exactMatch ncbigene:140862 semapv:UnspecifiedMatching +OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:20296 semapv:UnspecifiedMatching +OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:FNDC3A semapv:UnspecifiedMatching +OMIM:615794 FNDC3A skos:exactMatch ncbigene:22862 semapv:UnspecifiedMatching +OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:21674 semapv:UnspecifiedMatching +OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:FSIP1 semapv:UnspecifiedMatching +OMIM:615795 FSIP1 skos:exactMatch ncbigene:161835 semapv:UnspecifiedMatching +OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:21675 semapv:UnspecifiedMatching +OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:FSIP2 semapv:UnspecifiedMatching +OMIM:615796 FSIP2 skos:exactMatch ncbigene:401024 semapv:UnspecifiedMatching +OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:21243 semapv:UnspecifiedMatching +OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:HCG9 semapv:UnspecifiedMatching +OMIM:615797 HCG9 skos:exactMatch ncbigene:10255 semapv:UnspecifiedMatching +OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:2048 semapv:UnspecifiedMatching +OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:CLDN6 semapv:UnspecifiedMatching +OMIM:615798 CLDN6 skos:exactMatch ncbigene:9074 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch UMLS:C1413479 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:2051 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:CLDN9 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch ncbigene:9080 semapv:UnspecifiedMatching +OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:3961 semapv:UnspecifiedMatching +OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:FSCN3 semapv:UnspecifiedMatching +OMIM:615800 FSCN3 skos:exactMatch ncbigene:29999 semapv:UnspecifiedMatching +OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities skos:exactMatch MONDO:0014348 semapv:UnspecifiedMatching +OMIM:615803 pontocerebellar hypoplasia, iia 10 skos:exactMatch MONDO:0014349 semapv:UnspecifiedMatching +OMIM:615804 URAD skos:exactMatch hgnc.symbol:17785 semapv:UnspecifiedMatching +OMIM:615804 URAD skos:exactMatch hgnc.symbol:URAD semapv:UnspecifiedMatching +OMIM:615804 URAD skos:exactMatch ncbigene:646625 semapv:UnspecifiedMatching +OMIM:615805 URAHP skos:exactMatch hgnc.symbol:43695 semapv:UnspecifiedMatching +OMIM:615805 URAHP skos:exactMatch hgnc.symbol:URAHP semapv:UnspecifiedMatching +OMIM:615805 URAHP skos:exactMatch ncbigene:100130015 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch UMLS:C1427907 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:23090 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:SLC15A4 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch ncbigene:121260 semapv:UnspecifiedMatching +OMIM:615807 seckel syndrome 8 skos:exactMatch MONDO:0014350 semapv:UnspecifiedMatching +OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:26932 semapv:UnspecifiedMatching +OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:TMA7 semapv:UnspecifiedMatching +OMIM:615808 TMA7 skos:exactMatch ncbigene:51372 semapv:UnspecifiedMatching +OMIM:615809 pontocerebellar hypoplasia, iia 9 skos:exactMatch MONDO:0014351 semapv:UnspecifiedMatching +OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:30204 semapv:UnspecifiedMatching +OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:C11orf54 semapv:UnspecifiedMatching +OMIM:615810 C11ORF54 skos:exactMatch ncbigene:28970 semapv:UnspecifiedMatching +OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:9262 semapv:UnspecifiedMatching +OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:PPIL3 semapv:UnspecifiedMatching +OMIM:615811 PPIL3 skos:exactMatch ncbigene:53938 semapv:UnspecifiedMatching +OMIM:615812 abdominal obesity-metabolic syndrome 3 skos:exactMatch MONDO:0014352 semapv:UnspecifiedMatching +OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:25524 semapv:UnspecifiedMatching +OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:FAM193B semapv:UnspecifiedMatching +OMIM:615813 FAM193B skos:exactMatch ncbigene:54540 semapv:UnspecifiedMatching +OMIM:615814 STYX skos:exactMatch hgnc.symbol:11447 semapv:UnspecifiedMatching +OMIM:615814 STYX skos:exactMatch hgnc.symbol:STYX semapv:UnspecifiedMatching +OMIM:615814 STYX skos:exactMatch ncbigene:6815 semapv:UnspecifiedMatching +OMIM:615815 SENCR skos:exactMatch hgnc.symbol:44177 semapv:UnspecifiedMatching +OMIM:615815 SENCR skos:exactMatch hgnc.symbol:SENCR semapv:UnspecifiedMatching +OMIM:615815 SENCR skos:exactMatch ncbigene:100507392 semapv:UnspecifiedMatching +OMIM:615816 immunodeficiency 23 skos:exactMatch MONDO:0014353 semapv:UnspecifiedMatching +OMIM:615816 immunodeficiency 23 skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching +OMIM:615816 immunodeficiency 23 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching +OMIM:615817 intellectual developmental disorder, autosomal recessive 43 skos:exactMatch MONDO:0014354 semapv:UnspecifiedMatching +OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:29030 semapv:UnspecifiedMatching +OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:RRP8 semapv:UnspecifiedMatching +OMIM:615818 RRP8 skos:exactMatch ncbigene:23378 semapv:UnspecifiedMatching +OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:30004 semapv:UnspecifiedMatching +OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:SULT1A4 semapv:UnspecifiedMatching +OMIM:615819 SULT1A4 skos:exactMatch ncbigene:445329 semapv:UnspecifiedMatching +OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:24891 semapv:UnspecifiedMatching +OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:DCAF8 semapv:UnspecifiedMatching +OMIM:615820 DCAF8 skos:exactMatch ncbigene:50717 semapv:UnspecifiedMatching +OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch MONDO:0014355 semapv:UnspecifiedMatching +OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch Orphanet:65282 semapv:UnspecifiedMatching +OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch UMLS:C4014393 semapv:UnspecifiedMatching +OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:20922 semapv:UnspecifiedMatching +OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:SLX1A semapv:UnspecifiedMatching +OMIM:615822 SLX1A skos:exactMatch ncbigene:548593 semapv:UnspecifiedMatching +OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:28748 semapv:UnspecifiedMatching +OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:SLX1B semapv:UnspecifiedMatching +OMIM:615823 SLX1B skos:exactMatch ncbigene:79008 semapv:UnspecifiedMatching +OMIM:615824 mitochondrial complex 3 deficiency, nuclear iia 7 skos:exactMatch MONDO:0014356 semapv:UnspecifiedMatching +OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:30667 semapv:UnspecifiedMatching +OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:SUSD2 semapv:UnspecifiedMatching +OMIM:615825 SUSD2 skos:exactMatch ncbigene:56241 semapv:UnspecifiedMatching +OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:28070 semapv:UnspecifiedMatching +OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:STPG1 semapv:UnspecifiedMatching +OMIM:615826 STPG1 skos:exactMatch ncbigene:90529 semapv:UnspecifiedMatching +OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:25470 semapv:UnspecifiedMatching +OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:SUSD4 semapv:UnspecifiedMatching +OMIM:615827 SUSD4 skos:exactMatch ncbigene:55061 semapv:UnspecifiedMatching +OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch MONDO:0014357 semapv:UnspecifiedMatching +OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching +OMIM:615829 xia-gibbs syndrome skos:exactMatch MONDO:0014358 semapv:UnspecifiedMatching +OMIM:615829 xia-gibbs syndrome skos:exactMatch Orphanet:412069 semapv:UnspecifiedMatching +OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching +OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C5436345 semapv:UnspecifiedMatching +OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch MONDO:0014359 semapv:UnspecifiedMatching +OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch Orphanet:189439 semapv:UnspecifiedMatching +OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching +OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:28072 semapv:UnspecifiedMatching +OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:LYRM7 semapv:UnspecifiedMatching +OMIM:615831 LYRM7 skos:exactMatch ncbigene:90624 semapv:UnspecifiedMatching +OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:37269 semapv:UnspecifiedMatching +OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:UBE2QL1 semapv:UnspecifiedMatching +OMIM:615832 UBE2QL1 skos:exactMatch ncbigene:134111 semapv:UnspecifiedMatching +OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch MONDO:0014360 semapv:UnspecifiedMatching +OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching +OMIM:615834 intellectual developmental disorder, autosomal dominant 26 skos:exactMatch MONDO:0014361 semapv:UnspecifiedMatching +OMIM:615835 chromosome 16 inversion, 0.45-mb skos:exactMatch MONDO:0014362 semapv:UnspecifiedMatching +OMIM:615836 STK38L skos:exactMatch hgnc.symbol:17848 semapv:UnspecifiedMatching +OMIM:615836 STK38L skos:exactMatch hgnc.symbol:STK38L semapv:UnspecifiedMatching +OMIM:615836 STK38L skos:exactMatch ncbigene:23012 semapv:UnspecifiedMatching +OMIM:615837 deafness, autosomal recessive 101 skos:exactMatch MONDO:0014363 semapv:UnspecifiedMatching +OMIM:615838 mitochondrial complex 3 deficiency, nuclear iia 8 skos:exactMatch MONDO:0014364 semapv:UnspecifiedMatching +OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:2754 semapv:UnspecifiedMatching +OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:DECR2 semapv:UnspecifiedMatching +OMIM:615839 DECR2 skos:exactMatch ncbigene:26063 semapv:UnspecifiedMatching +OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:28777 semapv:UnspecifiedMatching +OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:DCTPP1 semapv:UnspecifiedMatching +OMIM:615840 DCTPP1 skos:exactMatch ncbigene:79077 semapv:UnspecifiedMatching +OMIM:615841 spermatogenic failure 13 skos:exactMatch MONDO:0014365 semapv:UnspecifiedMatching +OMIM:615842 spermatogenic failure 14 skos:exactMatch MONDO:0014366 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch UMLS:C1539265 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:13709 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:DEGS1 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch ncbigene:8560 semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch UMLS:C1824882 semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch hgnc.symbol:24552 semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch hgnc.symbol:TKFC semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch ncbigene:26007 semapv:UnspecifiedMatching +OMIM:615845 MIR190A skos:exactMatch hgnc.symbol:31560 semapv:UnspecifiedMatching +OMIM:615845 MIR190A skos:exactMatch hgnc.symbol:MIR190A semapv:UnspecifiedMatching +OMIM:615845 MIR190A skos:exactMatch ncbigene:406965 semapv:UnspecifiedMatching +OMIM:615846 aicardi-goutieres syndrome 7 skos:exactMatch MONDO:0014367 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch UMLS:C1824565 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch UMLS:C3890591 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch hgnc.symbol:17966 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch hgnc.symbol:CEP83 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch ncbigene:51134 semapv:UnspecifiedMatching +OMIM:615848 tumor predisposition syndrome 3 skos:exactMatch MONDO:0014368 semapv:UnspecifiedMatching +OMIM:615849 culler-jones syndrome skos:exactMatch MONDO:0014369 semapv:UnspecifiedMatching +OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:25608 semapv:UnspecifiedMatching +OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:VPS53 semapv:UnspecifiedMatching +OMIM:615850 VPS53 skos:exactMatch ncbigene:55275 semapv:UnspecifiedMatching +OMIM:615851 pontocerebellar hypoplasia, iia 2e skos:exactMatch MONDO:0014370 semapv:UnspecifiedMatching +OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:14902 semapv:UnspecifiedMatching +OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:RAB6B semapv:UnspecifiedMatching +OMIM:615852 RAB6B skos:exactMatch ncbigene:51560 semapv:UnspecifiedMatching +OMIM:615853 PAOX skos:exactMatch hgnc.symbol:20837 semapv:UnspecifiedMatching +OMIM:615853 PAOX skos:exactMatch hgnc.symbol:PAOX semapv:UnspecifiedMatching +OMIM:615853 PAOX skos:exactMatch ncbigene:196743 semapv:UnspecifiedMatching +OMIM:615854 SMOX skos:exactMatch hgnc.symbol:15862 semapv:UnspecifiedMatching +OMIM:615854 SMOX skos:exactMatch hgnc.symbol:SMOX semapv:UnspecifiedMatching +OMIM:615854 SMOX skos:exactMatch ncbigene:54498 semapv:UnspecifiedMatching +OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:24099 semapv:UnspecifiedMatching +OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:TMTC1 semapv:UnspecifiedMatching +OMIM:615855 TMTC1 skos:exactMatch ncbigene:83857 semapv:UnspecifiedMatching +OMIM:615856 TMTC2 skos:exactMatch hgnc.symbol:25440 semapv:UnspecifiedMatching +OMIM:615856 TMTC2 skos:exactMatch hgnc.symbol:TMTC2 semapv:UnspecifiedMatching +OMIM:615856 TMTC2 skos:exactMatch ncbigene:160335 semapv:UnspecifiedMatching +OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:25585 semapv:UnspecifiedMatching +OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:OGFOD1 semapv:UnspecifiedMatching +OMIM:615857 OGFOD1 skos:exactMatch ncbigene:55239 semapv:UnspecifiedMatching +OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:25642 semapv:UnspecifiedMatching +OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:RSBN1 semapv:UnspecifiedMatching +OMIM:615858 RSBN1 skos:exactMatch ncbigene:54665 semapv:UnspecifiedMatching +OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch MONDO:0014371 semapv:UnspecifiedMatching +OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch Orphanet:411986 semapv:UnspecifiedMatching +OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching +OMIM:615860 cone-rod dystrophy 19 skos:exactMatch MONDO:0014372 semapv:UnspecifiedMatching +OMIM:615861 nephrotic syndrome, iia 10 skos:exactMatch MONDO:0014373 semapv:UnspecifiedMatching +OMIM:615862 nephronophthisis 18 skos:exactMatch MONDO:0014374 semapv:UnspecifiedMatching +OMIM:615863 diarrhea 7, protein-losing enteropathy iia skos:exactMatch MONDO:0014375 semapv:UnspecifiedMatching +OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:26244 semapv:UnspecifiedMatching +OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:CEP97 semapv:UnspecifiedMatching +OMIM:615864 CEP97 skos:exactMatch ncbigene:79598 semapv:UnspecifiedMatching +OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:34410 semapv:UnspecifiedMatching +OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:NEURL4 semapv:UnspecifiedMatching +OMIM:615865 NEURL4 skos:exactMatch ncbigene:84461 semapv:UnspecifiedMatching +OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch MONDO:0014376 semapv:UnspecifiedMatching +OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching +OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching +OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:21485 semapv:UnspecifiedMatching +OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:TBC1D32 semapv:UnspecifiedMatching +OMIM:615867 TBC1D32 skos:exactMatch ncbigene:221322 semapv:UnspecifiedMatching +OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:29486 semapv:UnspecifiedMatching +OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:SPINK6 semapv:UnspecifiedMatching +OMIM:615868 SPINK6 skos:exactMatch ncbigene:404203 semapv:UnspecifiedMatching +OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:28279 semapv:UnspecifiedMatching +OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:TNFAIP8L1 semapv:UnspecifiedMatching +OMIM:615869 TNFAIP8L1 skos:exactMatch ncbigene:126282 semapv:UnspecifiedMatching +OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:18626 semapv:UnspecifiedMatching +OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:IFT27 semapv:UnspecifiedMatching +OMIM:615870 IFT27 skos:exactMatch ncbigene:11020 semapv:UnspecifiedMatching +OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch MONDO:0014377 semapv:UnspecifiedMatching +OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching +OMIM:615872 ciliary dyskinesia, primary, 29 skos:exactMatch MONDO:0014378 semapv:UnspecifiedMatching +OMIM:615873 helsmoortel-van der aa syndrome skos:exactMatch MONDO:0014379 semapv:UnspecifiedMatching +OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:24534 semapv:UnspecifiedMatching +OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:RSL1D1 semapv:UnspecifiedMatching +OMIM:615874 RSL1D1 skos:exactMatch ncbigene:26156 semapv:UnspecifiedMatching +OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:21393 semapv:UnspecifiedMatching +OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:RWDD3 semapv:UnspecifiedMatching +OMIM:615875 RWDD3 skos:exactMatch ncbigene:25950 semapv:UnspecifiedMatching +OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:21054 semapv:UnspecifiedMatching +OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:RSPH3 semapv:UnspecifiedMatching +OMIM:615876 RSPH3 skos:exactMatch ncbigene:83861 semapv:UnspecifiedMatching +OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome skos:exactMatch MONDO:0014380 semapv:UnspecifiedMatching +OMIM:615878 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch MONDO:0014381 semapv:UnspecifiedMatching +OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch MONDO:0014382 semapv:UnspecifiedMatching +OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching +OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching +OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:29351 semapv:UnspecifiedMatching +OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:ARHGAP39 semapv:UnspecifiedMatching +OMIM:615880 ARHGAP39 skos:exactMatch ncbigene:80728 semapv:UnspecifiedMatching +OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:17155 semapv:UnspecifiedMatching +OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:RABGAP1 semapv:UnspecifiedMatching +OMIM:615882 RABGAP1 skos:exactMatch ncbigene:23637 semapv:UnspecifiedMatching +OMIM:615883 myopathy, tubular aggregate, 2 skos:exactMatch MONDO:0014383 semapv:UnspecifiedMatching +OMIM:615884 APMAP skos:exactMatch hgnc.symbol:13238 semapv:UnspecifiedMatching +OMIM:615884 APMAP skos:exactMatch hgnc.symbol:APMAP semapv:UnspecifiedMatching +OMIM:615884 APMAP skos:exactMatch ncbigene:57136 semapv:UnspecifiedMatching +OMIM:615885 hypotrichosis 12 skos:exactMatch MONDO:0014384 semapv:UnspecifiedMatching +OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:32554 semapv:UnspecifiedMatching +OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:FAM83G semapv:UnspecifiedMatching +OMIM:615886 FAM83G skos:exactMatch ncbigene:644815 semapv:UnspecifiedMatching +OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 skos:exactMatch MONDO:0014385 semapv:UnspecifiedMatching +OMIM:615888 bleeding disorder, platelet-type, 18 skos:exactMatch MONDO:0014386 semapv:UnspecifiedMatching +OMIM:615889 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 semapv:UnspecifiedMatching +OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:18745 semapv:UnspecifiedMatching +OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:DYNC1LI1 semapv:UnspecifiedMatching +OMIM:615890 DYNC1LI1 skos:exactMatch ncbigene:51143 semapv:UnspecifiedMatching +OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:24094 semapv:UnspecifiedMatching +OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:ZBTB8OS semapv:UnspecifiedMatching +OMIM:615891 ZBTB8OS skos:exactMatch ncbigene:339487 semapv:UnspecifiedMatching +OMIM:615892 orofacial cleft 14 skos:exactMatch MONDO:0014388 semapv:UnspecifiedMatching +OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:35422 semapv:UnspecifiedMatching +OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:NEURL1B semapv:UnspecifiedMatching +OMIM:615893 NEURL1B skos:exactMatch ncbigene:54492 semapv:UnspecifiedMatching +OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:19904 semapv:UnspecifiedMatching +OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:ZNF407 semapv:UnspecifiedMatching +OMIM:615894 ZNF407 skos:exactMatch ncbigene:55628 semapv:UnspecifiedMatching +OMIM:615895 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch MONDO:0014389 semapv:UnspecifiedMatching +OMIM:615896 hypotrichosis 13 skos:exactMatch MONDO:0014390 semapv:UnspecifiedMatching +OMIM:615897 immunodeficiency 24 skos:exactMatch MONDO:0014391 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch UMLS:C2240250 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:28816 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:NDUFAF7 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch ncbigene:55471 semapv:UnspecifiedMatching +OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:27270 semapv:UnspecifiedMatching +OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:OLFML2A semapv:UnspecifiedMatching +OMIM:615899 OLFML2A skos:exactMatch ncbigene:169611 semapv:UnspecifiedMatching +OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:26147 semapv:UnspecifiedMatching +OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:AGBL5 semapv:UnspecifiedMatching +OMIM:615900 AGBL5 skos:exactMatch ncbigene:60509 semapv:UnspecifiedMatching +OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:33739 semapv:UnspecifiedMatching +OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:NCCRP1 semapv:UnspecifiedMatching +OMIM:615901 NCCRP1 skos:exactMatch ncbigene:342897 semapv:UnspecifiedMatching +OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:17485 semapv:UnspecifiedMatching +OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:PPP2R3C semapv:UnspecifiedMatching +OMIM:615902 PPP2R3C skos:exactMatch ncbigene:55012 semapv:UnspecifiedMatching +OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:15559 semapv:UnspecifiedMatching +OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:CHCHD10 semapv:UnspecifiedMatching +OMIM:615903 CHCHD10 skos:exactMatch ncbigene:400916 semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch UMLS:C1826746 semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:26359 semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:PXDNL semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch ncbigene:137902 semapv:UnspecifiedMatching +OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch MONDO:0014392 semapv:UnspecifiedMatching +OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch UMLS:C1426846 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:20308 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:OBI1 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch ncbigene:79596 semapv:UnspecifiedMatching +OMIM:615907 lymphatic malformation 4 skos:exactMatch MONDO:0014393 semapv:UnspecifiedMatching +OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:32108 semapv:UnspecifiedMatching +OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:MIR520C semapv:UnspecifiedMatching +OMIM:615908 MIR520C skos:exactMatch ncbigene:574476 semapv:UnspecifiedMatching +OMIM:615909 diamond-blackfan anemia 13 skos:exactMatch MONDO:0014394 semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch UMLS:C2681323 semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch hgnc.symbol:25576 semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch hgnc.symbol:NAXD semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch ncbigene:55739 semapv:UnspecifiedMatching +OMIM:615911 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch MONDO:0014395 semapv:UnspecifiedMatching +OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:25806 semapv:UnspecifiedMatching +OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:GSTCD semapv:UnspecifiedMatching +OMIM:615912 GSTCD skos:exactMatch ncbigene:79807 semapv:UnspecifiedMatching +OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:21408 semapv:UnspecifiedMatching +OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:PM20D2 semapv:UnspecifiedMatching +OMIM:615913 PM20D2 skos:exactMatch ncbigene:135293 semapv:UnspecifiedMatching +OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:24325 semapv:UnspecifiedMatching +OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:CDKN2AIP semapv:UnspecifiedMatching +OMIM:615914 CDKN2AIP skos:exactMatch ncbigene:55602 semapv:UnspecifiedMatching +OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:27022 semapv:UnspecifiedMatching +OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:ZPLD1 semapv:UnspecifiedMatching +OMIM:615915 ZPLD1 skos:exactMatch ncbigene:131368 semapv:UnspecifiedMatching +OMIM:615916 cardiomyopathy, dilated, 1nn skos:exactMatch MONDO:0014396 semapv:UnspecifiedMatching +OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch MONDO:0014397 semapv:UnspecifiedMatching +OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch Orphanet:420728 semapv:UnspecifiedMatching +OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching +OMIM:615918 combined oxidative phosphorylation deficiency 21 skos:exactMatch MONDO:0014398 semapv:UnspecifiedMatching +OMIM:615919 ataxia-telangiectasia-like disorder 2 skos:exactMatch MONDO:0014399 semapv:UnspecifiedMatching +OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:25619 semapv:UnspecifiedMatching +OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:PRR11 semapv:UnspecifiedMatching +OMIM:615920 PRR11 skos:exactMatch ncbigene:55771 semapv:UnspecifiedMatching +OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:28208 semapv:UnspecifiedMatching +OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:PERM1 semapv:UnspecifiedMatching +OMIM:615921 PERM1 skos:exactMatch ncbigene:84808 semapv:UnspecifiedMatching +OMIM:615922 retinitis pigmentosa 70 skos:exactMatch MONDO:0014400 semapv:UnspecifiedMatching +OMIM:615923 epiphyseal chondrodysplasia, miura iia skos:exactMatch MONDO:0014401 semapv:UnspecifiedMatching +OMIM:615924 encephalopathy, progressive, with or without lipodystrophy skos:exactMatch MONDO:0014402 semapv:UnspecifiedMatching +OMIM:615925 growth hormone deficiency, isolated partial skos:exactMatch MONDO:0014403 semapv:UnspecifiedMatching +OMIM:615926 webb-dattani syndrome skos:exactMatch MONDO:0014404 semapv:UnspecifiedMatching +OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:27051 semapv:UnspecifiedMatching +OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:RFLNA semapv:UnspecifiedMatching +OMIM:615927 RFLNA skos:exactMatch ncbigene:144347 semapv:UnspecifiedMatching +OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:28705 semapv:UnspecifiedMatching +OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:RFLNB semapv:UnspecifiedMatching +OMIM:615928 RFLNB skos:exactMatch ncbigene:359845 semapv:UnspecifiedMatching +OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:23575 semapv:UnspecifiedMatching +OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:ANKRD17 semapv:UnspecifiedMatching +OMIM:615929 ANKRD17 skos:exactMatch ncbigene:26057 semapv:UnspecifiedMatching +OMIM:615930 CAHM skos:exactMatch hgnc.symbol:42860 semapv:UnspecifiedMatching +OMIM:615930 CAHM skos:exactMatch hgnc.symbol:CAHM semapv:UnspecifiedMatching +OMIM:615930 CAHM skos:exactMatch ncbigene:100526820 semapv:UnspecifiedMatching +OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:29654 semapv:UnspecifiedMatching +OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:PRR16 semapv:UnspecifiedMatching +OMIM:615931 PRR16 skos:exactMatch ncbigene:51334 semapv:UnspecifiedMatching +OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:21052 semapv:UnspecifiedMatching +OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:KCTD20 semapv:UnspecifiedMatching +OMIM:615932 KCTD20 skos:exactMatch ncbigene:222658 semapv:UnspecifiedMatching +OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:21445 semapv:UnspecifiedMatching +OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:BTBD10 semapv:UnspecifiedMatching +OMIM:615933 BTBD10 skos:exactMatch ncbigene:84280 semapv:UnspecifiedMatching +OMIM:615934 sting-associated vasculopathy, infantile-onset skos:exactMatch MONDO:0014405 semapv:UnspecifiedMatching +OMIM:615935 pancreatic agenesis 2 skos:exactMatch MONDO:0014406 semapv:UnspecifiedMatching +OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:26545 semapv:UnspecifiedMatching +OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:ARHGAP42 semapv:UnspecifiedMatching +OMIM:615936 ARHGAP42 skos:exactMatch ncbigene:143872 semapv:UnspecifiedMatching +OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch MONDO:0014407 semapv:UnspecifiedMatching +OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch Orphanet:83473 semapv:UnspecifiedMatching +OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch UMLS:C4014738 semapv:UnspecifiedMatching +OMIM:615938 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch MONDO:0014408 semapv:UnspecifiedMatching +OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:9640 semapv:UnspecifiedMatching +OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:HACD2 semapv:UnspecifiedMatching +OMIM:615939 PTPLB skos:exactMatch ncbigene:201562 semapv:UnspecifiedMatching +OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:24175 semapv:UnspecifiedMatching +OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:HACD3 semapv:UnspecifiedMatching +OMIM:615940 PTPLAD1 skos:exactMatch ncbigene:51495 semapv:UnspecifiedMatching +OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:20920 semapv:UnspecifiedMatching +OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:HACD4 semapv:UnspecifiedMatching +OMIM:615941 PTPLAD2 skos:exactMatch ncbigene:401494 semapv:UnspecifiedMatching +OMIM:615942 intellectual developmental disorder, autosomal recessive 44 skos:exactMatch MONDO:0014409 semapv:UnspecifiedMatching +OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:29647 semapv:UnspecifiedMatching +OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:MAGI3 semapv:UnspecifiedMatching +OMIM:615943 MAGI3 skos:exactMatch ncbigene:260425 semapv:UnspecifiedMatching +OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:24564 semapv:UnspecifiedMatching +OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:C2CD3 semapv:UnspecifiedMatching +OMIM:615944 C2CD3 skos:exactMatch ncbigene:26005 semapv:UnspecifiedMatching +OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch MONDO:0014410 semapv:UnspecifiedMatching +OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch Orphanet:363710 semapv:UnspecifiedMatching +OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch UMLS:C3889636 semapv:UnspecifiedMatching +OMIM:615946 myopia 24, autosomal dominant skos:exactMatch MONDO:0014411 semapv:UnspecifiedMatching +OMIM:615947 hyperlipoproteinemia, iia 1d skos:exactMatch MONDO:0014412 semapv:UnspecifiedMatching +OMIM:615948 orofaciodigital syndrome 14 skos:exactMatch MONDO:0014413 semapv:UnspecifiedMatching +OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:24529 semapv:UnspecifiedMatching +OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:TMEM98 semapv:UnspecifiedMatching +OMIM:615949 TMEM98 skos:exactMatch ncbigene:26022 semapv:UnspecifiedMatching +OMIM:615950 SPEG skos:exactMatch hgnc.symbol:16901 semapv:UnspecifiedMatching +OMIM:615950 SPEG skos:exactMatch hgnc.symbol:SPEG semapv:UnspecifiedMatching +OMIM:615950 SPEG skos:exactMatch ncbigene:10290 semapv:UnspecifiedMatching +OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:29316 semapv:UnspecifiedMatching +OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:ZSWIM6 semapv:UnspecifiedMatching +OMIM:615951 ZSWIM6 skos:exactMatch ncbigene:57688 semapv:UnspecifiedMatching +OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 skos:exactMatch MONDO:0014414 semapv:UnspecifiedMatching +OMIM:615953 kallikrein, decreased urinary activity of skos:exactMatch MONDO:0014415 semapv:UnspecifiedMatching +OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 skos:exactMatch MONDO:0014416 semapv:UnspecifiedMatching +OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:28236 semapv:UnspecifiedMatching +OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:CCDC183 semapv:UnspecifiedMatching +OMIM:615955 CCDC183 skos:exactMatch ncbigene:84960 semapv:UnspecifiedMatching +OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:28303 semapv:UnspecifiedMatching +OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:ODAD3 semapv:UnspecifiedMatching +OMIM:615956 ODAD3 skos:exactMatch ncbigene:115948 semapv:UnspecifiedMatching +OMIM:615957 spinocerebellar ataxia 38 skos:exactMatch MONDO:0014417 semapv:UnspecifiedMatching +OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:16225 semapv:UnspecifiedMatching +OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:SLX4IP semapv:UnspecifiedMatching +OMIM:615958 SLX4IP skos:exactMatch ncbigene:128710 semapv:UnspecifiedMatching +OMIM:615959 myopathy, centronuclear, 5 skos:exactMatch MONDO:0014418 semapv:UnspecifiedMatching +OMIM:615960 poretti-boltshauser syndrome skos:exactMatch MONDO:0014419 semapv:UnspecifiedMatching +OMIM:615961 acid-labile subunit deficiency skos:exactMatch MONDO:0014420 semapv:UnspecifiedMatching +OMIM:615962 glucocorticoid resistance, generalized skos:exactMatch MONDO:0014421 semapv:UnspecifiedMatching +OMIM:615963 vesicoureteral reflux 8 skos:exactMatch MONDO:0014422 semapv:UnspecifiedMatching +OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:1274 semapv:UnspecifiedMatching +OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:MIR99AHG semapv:UnspecifiedMatching +OMIM:615964 MIR99AHG skos:exactMatch ncbigene:388815 semapv:UnspecifiedMatching +OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:39522 semapv:UnspecifiedMatching +OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:MIR100HG semapv:UnspecifiedMatching +OMIM:615965 MIR100HG skos:exactMatch ncbigene:399959 semapv:UnspecifiedMatching +OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch MONDO:0014423 semapv:UnspecifiedMatching +OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch Orphanet:317425 semapv:UnspecifiedMatching +OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch UMLS:C4014833 semapv:UnspecifiedMatching +OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:20243 semapv:UnspecifiedMatching +OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:CYP2W1 semapv:UnspecifiedMatching +OMIM:615967 CYP2W1 skos:exactMatch ncbigene:54905 semapv:UnspecifiedMatching +OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:32684 semapv:UnspecifiedMatching +OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:MYCNUT semapv:UnspecifiedMatching +OMIM:615968 MYCNUT skos:exactMatch ncbigene:103752554 semapv:UnspecifiedMatching +OMIM:615969 alpha-fetoprotein deficiency skos:exactMatch MONDO:0014424 semapv:UnspecifiedMatching +OMIM:615970 alpha-fetoprotein, hereditary persistence of skos:exactMatch MONDO:0014425 semapv:UnspecifiedMatching +OMIM:615972 nanophthalmos 4 skos:exactMatch MONDO:0014426 semapv:UnspecifiedMatching +OMIM:615973 cone-rod dystrophy 20 skos:exactMatch MONDO:0014427 semapv:UnspecifiedMatching +OMIM:615974 deafness, autosomal recessive 102 skos:exactMatch MONDO:0014428 semapv:UnspecifiedMatching +OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:25137 semapv:UnspecifiedMatching +OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:TMEM129 semapv:UnspecifiedMatching +OMIM:615975 TMEM129 skos:exactMatch ncbigene:92305 semapv:UnspecifiedMatching +OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:50650 semapv:UnspecifiedMatching +OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:FOXCUT semapv:UnspecifiedMatching +OMIM:615976 FOXCUT skos:exactMatch ncbigene:101927703 semapv:UnspecifiedMatching +OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:31776 semapv:UnspecifiedMatching +OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:MIR339 semapv:UnspecifiedMatching +OMIM:615977 MIR339 skos:exactMatch ncbigene:442907 semapv:UnspecifiedMatching +OMIM:615978 immunodeficiency 27b skos:exactMatch MONDO:0014429 semapv:UnspecifiedMatching +OMIM:615978 immunodeficiency 27b skos:exactMatch Orphanet:319581 semapv:UnspecifiedMatching +OMIM:615978 immunodeficiency 27b skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching +OMIM:615979 intellectual developmental disorder, autosomal recessive 45 skos:exactMatch MONDO:0014430 semapv:UnspecifiedMatching +OMIM:615980 lipodystrophy, familial partial, iia 6 skos:exactMatch MONDO:0014431 semapv:UnspecifiedMatching +OMIM:615981 bardet-biedl syndrome 2 skos:exactMatch MONDO:0014432 semapv:UnspecifiedMatching +OMIM:615982 bardet-biedl syndrome 4 skos:exactMatch MONDO:0014433 semapv:UnspecifiedMatching +OMIM:615983 bardet-biedl syndrome 5 skos:exactMatch MONDO:0014434 semapv:UnspecifiedMatching +OMIM:615984 bardet-biedl syndrome 7 skos:exactMatch MONDO:0014435 semapv:UnspecifiedMatching +OMIM:615985 bardet-biedl syndrome 8 skos:exactMatch MONDO:0014436 semapv:UnspecifiedMatching +OMIM:615986 bardet-biedl syndrome 9 skos:exactMatch MONDO:0014437 semapv:UnspecifiedMatching +OMIM:615987 bardet-biedl syndrome 10 skos:exactMatch MONDO:0014438 semapv:UnspecifiedMatching +OMIM:615988 bardet-biedl syndrome 11 skos:exactMatch MONDO:0014439 semapv:UnspecifiedMatching +OMIM:615989 bardet-biedl syndrome 12 skos:exactMatch MONDO:0014440 semapv:UnspecifiedMatching +OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch MONDO:0014441 semapv:UnspecifiedMatching +OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching +OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching +OMIM:615991 bardet-biedl syndrome 14 skos:exactMatch MONDO:0014442 semapv:UnspecifiedMatching +OMIM:615992 bardet-biedl syndrome 15 skos:exactMatch MONDO:0014443 semapv:UnspecifiedMatching +OMIM:615993 bardet-biedl syndrome 16 skos:exactMatch MONDO:0014444 semapv:UnspecifiedMatching +OMIM:615994 bardet-biedl syndrome 17 skos:exactMatch MONDO:0014445 semapv:UnspecifiedMatching +OMIM:615995 bardet-biedl syndrome 18 skos:exactMatch MONDO:0014446 semapv:UnspecifiedMatching +OMIM:615996 bardet-biedl syndrome 19 skos:exactMatch MONDO:0014447 semapv:UnspecifiedMatching +OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:18099 semapv:UnspecifiedMatching +OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:DEFB119 semapv:UnspecifiedMatching +OMIM:615997 DEFB119 skos:exactMatch ncbigene:245932 semapv:UnspecifiedMatching +OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:10055 semapv:UnspecifiedMatching +OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:RNF10 semapv:UnspecifiedMatching +OMIM:615998 RNF10 skos:exactMatch ncbigene:9921 semapv:UnspecifiedMatching +OMIM:615999 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch MONDO:0014448 semapv:UnspecifiedMatching +OMIM:616000 analbuminemia skos:exactMatch MONDO:0014449 semapv:UnspecifiedMatching +OMIM:616001 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch MONDO:0014450 semapv:UnspecifiedMatching +OMIM:616002 focal segmental glomerulosclerosis 7 skos:exactMatch MONDO:0014451 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch UMLS:C3471496 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:20492 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:COA8 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch ncbigene:84334 semapv:UnspecifiedMatching +OMIM:616004 dysfibrinogenemia, congenital skos:exactMatch MONDO:0014452 semapv:UnspecifiedMatching +OMIM:616005 immunodeficiency 36 with lymphoproliferation skos:exactMatch MONDO:0014453 semapv:UnspecifiedMatching +OMIM:616006 hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch MONDO:0014454 semapv:UnspecifiedMatching +OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia skos:exactMatch MONDO:0014455 semapv:UnspecifiedMatching +OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:16702 semapv:UnspecifiedMatching +OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:COPS4 semapv:UnspecifiedMatching +OMIM:616008 COPS4 skos:exactMatch ncbigene:51138 semapv:UnspecifiedMatching +OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:16758 semapv:UnspecifiedMatching +OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:COPS7A semapv:UnspecifiedMatching +OMIM:616009 COPS7A skos:exactMatch ncbigene:50813 semapv:UnspecifiedMatching +OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:16760 semapv:UnspecifiedMatching +OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:COPS7B semapv:UnspecifiedMatching +OMIM:616010 COPS7B skos:exactMatch ncbigene:64708 semapv:UnspecifiedMatching +OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:24335 semapv:UnspecifiedMatching +OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:COPS8 semapv:UnspecifiedMatching +OMIM:616011 COPS8 skos:exactMatch ncbigene:10920 semapv:UnspecifiedMatching +OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:26926 semapv:UnspecifiedMatching +OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:JAGN1 semapv:UnspecifiedMatching +OMIM:616012 JAGN1 skos:exactMatch ncbigene:84522 semapv:UnspecifiedMatching +OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:28403 semapv:UnspecifiedMatching +OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:TRMT10A semapv:UnspecifiedMatching +OMIM:616013 TRMT10A skos:exactMatch ncbigene:93587 semapv:UnspecifiedMatching +OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:14662 semapv:UnspecifiedMatching +OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:RNF25 semapv:UnspecifiedMatching +OMIM:616014 RNF25 skos:exactMatch ncbigene:64320 semapv:UnspecifiedMatching +OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:27752 semapv:UnspecifiedMatching +OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:RNF180 semapv:UnspecifiedMatching +OMIM:616015 RNF180 skos:exactMatch ncbigene:285671 semapv:UnspecifiedMatching +OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:18583 semapv:UnspecifiedMatching +OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:PPM1H semapv:UnspecifiedMatching +OMIM:616016 PPM1H skos:exactMatch ncbigene:57460 semapv:UnspecifiedMatching +OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:17857 semapv:UnspecifiedMatching +OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:TRIM69 semapv:UnspecifiedMatching +OMIM:616017 TRIM69 skos:exactMatch ncbigene:140691 semapv:UnspecifiedMatching +OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:27455 semapv:UnspecifiedMatching +OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:RCOR2 semapv:UnspecifiedMatching +OMIM:616019 RCOR2 skos:exactMatch ncbigene:283248 semapv:UnspecifiedMatching +OMIM:616020 CYYR1 skos:exactMatch hgnc.symbol:16274 semapv:UnspecifiedMatching +OMIM:616020 CYYR1 skos:exactMatch hgnc.symbol:CYYR1 semapv:UnspecifiedMatching +OMIM:616020 CYYR1 skos:exactMatch ncbigene:116159 semapv:UnspecifiedMatching +OMIM:616021 CYYR1AS1 skos:exactMatch hgnc.symbol:39560 semapv:UnspecifiedMatching +OMIM:616021 CYYR1AS1 skos:exactMatch hgnc.symbol:CYYR1-AS1 semapv:UnspecifiedMatching +OMIM:616021 CYYR1AS1 skos:exactMatch ncbigene:100996571 semapv:UnspecifiedMatching +OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive skos:exactMatch MONDO:0014456 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch UMLS:C1426151 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:19304 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:SCAF4 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch ncbigene:57466 semapv:UnspecifiedMatching +OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:20959 semapv:UnspecifiedMatching +OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:SCAF8 semapv:UnspecifiedMatching +OMIM:616024 SCAF8 skos:exactMatch ncbigene:22828 semapv:UnspecifiedMatching +OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch MONDO:0014457 semapv:UnspecifiedMatching +OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching +OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch UMLS:C4014958 semapv:UnspecifiedMatching +OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch MONDO:0014458 semapv:UnspecifiedMatching +OMIM:616027 ANLN skos:exactMatch hgnc.symbol:14082 semapv:UnspecifiedMatching +OMIM:616027 ANLN skos:exactMatch hgnc.symbol:ANLN semapv:UnspecifiedMatching +OMIM:616027 ANLN skos:exactMatch ncbigene:54443 semapv:UnspecifiedMatching +OMIM:616028 adams-oliver syndrome 5 skos:exactMatch MONDO:0014459 semapv:UnspecifiedMatching +OMIM:616029 ectodermal dysplasia/short stature syndrome skos:exactMatch MONDO:0014460 semapv:UnspecifiedMatching +OMIM:616030 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch MONDO:0014461 semapv:UnspecifiedMatching +OMIM:616031 CCDC141 skos:exactMatch hgnc.symbol:26821 semapv:UnspecifiedMatching +OMIM:616031 CCDC141 skos:exactMatch hgnc.symbol:CCDC141 semapv:UnspecifiedMatching +OMIM:616031 CCDC141 skos:exactMatch ncbigene:285025 semapv:UnspecifiedMatching +OMIM:616032 focal segmental glomerulosclerosis 8 skos:exactMatch MONDO:0014462 semapv:UnspecifiedMatching +OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch MONDO:0000208 semapv:UnspecifiedMatching +OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch MONDO:0014464 semapv:UnspecifiedMatching +OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch Orphanet:431361 semapv:UnspecifiedMatching +OMIM:616034 2,4-dienoyl-coa reductase deficiency skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching +OMIM:616035 FOXJ3 skos:exactMatch hgnc.symbol:29178 semapv:UnspecifiedMatching +OMIM:616035 FOXJ3 skos:exactMatch hgnc.symbol:FOXJ3 semapv:UnspecifiedMatching +OMIM:616035 FOXJ3 skos:exactMatch ncbigene:22887 semapv:UnspecifiedMatching +OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:32084 semapv:UnspecifiedMatching +OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:MIR494 semapv:UnspecifiedMatching +OMIM:616036 MIR494 skos:exactMatch ncbigene:574452 semapv:UnspecifiedMatching +OMIM:616037 ciliary dyskinesia, primary, 30 skos:exactMatch MONDO:0014465 semapv:UnspecifiedMatching +OMIM:616038 neu-laxova syndrome 2 skos:exactMatch MONDO:0014466 semapv:UnspecifiedMatching +OMIM:616039 charcot-marie-tooth disease, recessive intermediate d skos:exactMatch MONDO:0014467 semapv:UnspecifiedMatching +OMIM:616040 myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant skos:exactMatch MONDO:0014468 semapv:UnspecifiedMatching +OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:35410 semapv:UnspecifiedMatching +OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:TSTD1 semapv:UnspecifiedMatching +OMIM:616041 TSTD1 skos:exactMatch ncbigene:100131187 semapv:UnspecifiedMatching +OMIM:616042 deafness, autosomal recessive 103 skos:exactMatch MONDO:0014469 semapv:UnspecifiedMatching +OMIM:616043 PCAT1 skos:exactMatch hgnc.symbol:43022 semapv:UnspecifiedMatching +OMIM:616043 PCAT1 skos:exactMatch hgnc.symbol:PCAT1 semapv:UnspecifiedMatching +OMIM:616043 PCAT1 skos:exactMatch ncbigene:100750225 semapv:UnspecifiedMatching +OMIM:616044 deafness, autosomal dominant 65 skos:exactMatch MONDO:0014470 semapv:UnspecifiedMatching +OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch MONDO:0020727 semapv:UnspecifiedMatching +OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching +OMIM:616045 combined oxidative phosphorylation deficiency 22 skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching +OMIM:616046 PSTPIP2 skos:exactMatch hgnc.symbol:9581 semapv:UnspecifiedMatching +OMIM:616046 PSTPIP2 skos:exactMatch hgnc.symbol:PSTPIP2 semapv:UnspecifiedMatching +OMIM:616046 PSTPIP2 skos:exactMatch ncbigene:9050 semapv:UnspecifiedMatching +OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:29276 semapv:UnspecifiedMatching +OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:CFAP97 semapv:UnspecifiedMatching +OMIM:616047 CFAP97 skos:exactMatch ncbigene:57587 semapv:UnspecifiedMatching +OMIM:616048 APTR skos:exactMatch hgnc.symbol:44173 semapv:UnspecifiedMatching +OMIM:616048 APTR skos:exactMatch hgnc.symbol:APTR semapv:UnspecifiedMatching +OMIM:616048 APTR skos:exactMatch ncbigene:100505854 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch UMLS:C1423699 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:15746 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:TOMM34 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch ncbigene:10953 semapv:UnspecifiedMatching +OMIM:616050 autoinflammation with infantile enterocolitis skos:exactMatch MONDO:0014472 semapv:UnspecifiedMatching +OMIM:616051 microcephaly 13, primary, autosomal recessive skos:exactMatch MONDO:0014473 semapv:UnspecifiedMatching +OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch MONDO:0014474 semapv:UnspecifiedMatching +OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch Orphanet:352479 semapv:UnspecifiedMatching +OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching +OMIM:616053 spinocerebellar ataxia 40 skos:exactMatch MONDO:0014475 semapv:UnspecifiedMatching +OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:18248 semapv:UnspecifiedMatching +OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:ELP2 semapv:UnspecifiedMatching +OMIM:616054 ELP2 skos:exactMatch ncbigene:55250 semapv:UnspecifiedMatching +OMIM:616055 episodic ataxia, iia 8 skos:exactMatch MONDO:0014476 semapv:UnspecifiedMatching +OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch MONDO:0014477 semapv:UnspecifiedMatching +OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching +OMIM:616057 TUSC7 skos:exactMatch hgnc.symbol:27701 semapv:UnspecifiedMatching +OMIM:616057 TUSC7 skos:exactMatch hgnc.symbol:TUSC7 semapv:UnspecifiedMatching +OMIM:616057 TUSC7 skos:exactMatch ncbigene:285194 semapv:UnspecifiedMatching +OMIM:616058 TARID skos:exactMatch hgnc.symbol:50506 semapv:UnspecifiedMatching +OMIM:616058 TARID skos:exactMatch hgnc.symbol:TARID semapv:UnspecifiedMatching +OMIM:616058 TARID skos:exactMatch ncbigene:100507308 semapv:UnspecifiedMatching +OMIM:616059 mirror movements 3 skos:exactMatch MONDO:0014478 semapv:UnspecifiedMatching +OMIM:616061 MGA skos:exactMatch hgnc.symbol:14010 semapv:UnspecifiedMatching +OMIM:616061 MGA skos:exactMatch hgnc.symbol:MGA semapv:UnspecifiedMatching +OMIM:616061 MGA skos:exactMatch ncbigene:23269 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch UMLS:C2678596 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch UMLS:C4225249 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:29101 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:ANKLE2 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch ncbigene:23141 semapv:UnspecifiedMatching +OMIM:616063 porokeratosis 8, disseminated superficial actinic iia skos:exactMatch MONDO:0014479 semapv:UnspecifiedMatching +OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:19168 semapv:UnspecifiedMatching +OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:TINAGL1 semapv:UnspecifiedMatching +OMIM:616064 TINAGL1 skos:exactMatch ncbigene:64129 semapv:UnspecifiedMatching +OMIM:616065 PIANP skos:exactMatch hgnc.symbol:25338 semapv:UnspecifiedMatching +OMIM:616065 PIANP skos:exactMatch hgnc.symbol:PIANP semapv:UnspecifiedMatching +OMIM:616065 PIANP skos:exactMatch ncbigene:196500 semapv:UnspecifiedMatching +OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:26026 semapv:UnspecifiedMatching +OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:SOHLH2 semapv:UnspecifiedMatching +OMIM:616066 SOHLH2 skos:exactMatch ncbigene:54937 semapv:UnspecifiedMatching +OMIM:616067 46,xy sex reversal 9 skos:exactMatch MONDO:0014480 semapv:UnspecifiedMatching +OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:43745 semapv:UnspecifiedMatching +OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:HOXA-AS2 semapv:UnspecifiedMatching +OMIM:616068 HOXAAS2 skos:exactMatch ncbigene:285943 semapv:UnspecifiedMatching +OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch MONDO:0014481 semapv:UnspecifiedMatching +OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching +OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching +OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CFAP263 semapv:UnspecifiedMatching +OMIM:616070 CCDC113 skos:exactMatch ncbigene:29070 semapv:UnspecifiedMatching +OMIM:616071 C7ORF31 skos:exactMatch hgnc.symbol:SPMIP4 semapv:UnspecifiedMatching +OMIM:616071 C7ORF31 skos:exactMatch ncbigene:136895 semapv:UnspecifiedMatching +OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:24973 semapv:UnspecifiedMatching +OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:HP1BP3 semapv:UnspecifiedMatching +OMIM:616072 HP1BP3 skos:exactMatch ncbigene:50809 semapv:UnspecifiedMatching +OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:24902 semapv:UnspecifiedMatching +OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:DEPDC1B semapv:UnspecifiedMatching +OMIM:616073 DEPDC1B skos:exactMatch ncbigene:55789 semapv:UnspecifiedMatching +OMIM:616074 CKLF skos:exactMatch hgnc.symbol:13253 semapv:UnspecifiedMatching +OMIM:616074 CKLF skos:exactMatch hgnc.symbol:CKLF semapv:UnspecifiedMatching +OMIM:616074 CKLF skos:exactMatch ncbigene:51192 semapv:UnspecifiedMatching +OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:18101 semapv:UnspecifiedMatching +OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:DEFB121 semapv:UnspecifiedMatching +OMIM:616075 DEFB121 skos:exactMatch ncbigene:245934 semapv:UnspecifiedMatching +OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:18103 semapv:UnspecifiedMatching +OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:DEFB123 semapv:UnspecifiedMatching +OMIM:616076 DEFB123 skos:exactMatch ncbigene:245936 semapv:UnspecifiedMatching +OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:18102 semapv:UnspecifiedMatching +OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:DEFB122 semapv:UnspecifiedMatching +OMIM:616077 DEFB122 skos:exactMatch ncbigene:245935 semapv:UnspecifiedMatching +OMIM:616078 intellectual developmental disorder, autosomal dominant 29 skos:exactMatch MONDO:0014482 semapv:UnspecifiedMatching +OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities skos:exactMatch MONDO:0014483 semapv:UnspecifiedMatching +OMIM:616080 microcephaly 12, primary, autosomal recessive skos:exactMatch MONDO:0014484 semapv:UnspecifiedMatching +OMIM:616081 pontocerebellar hypoplasia, iia 1c skos:exactMatch MONDO:0014485 semapv:UnspecifiedMatching +OMIM:616082 C12ORF4 skos:exactMatch hgnc.symbol:FERRY3 semapv:UnspecifiedMatching +OMIM:616082 C12ORF4 skos:exactMatch ncbigene:57102 semapv:UnspecifiedMatching +OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities skos:exactMatch MONDO:0014486 semapv:UnspecifiedMatching +OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay skos:exactMatch MONDO:0014487 semapv:UnspecifiedMatching +OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:13102 semapv:UnspecifiedMatching +OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:ZNF37A semapv:UnspecifiedMatching +OMIM:616085 ZNF37A skos:exactMatch ncbigene:7587 semapv:UnspecifiedMatching +OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:25356 semapv:UnspecifiedMatching +OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:SPRTN semapv:UnspecifiedMatching +OMIM:616086 SPRTN skos:exactMatch ncbigene:83932 semapv:UnspecifiedMatching +OMIM:616087 iia 2 diabetes 5 skos:exactMatch MONDO:0014488 semapv:UnspecifiedMatching +OMIM:616087 iia 2 diabetes 5 skos:exactMatch UMLS:C4015183 semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch UMLS:C1823800 semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch hgnc.symbol:25341 semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch hgnc.symbol:RHEX semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch ncbigene:440712 semapv:UnspecifiedMatching +OMIM:616089 blood group, gerbich system skos:exactMatch MONDO:0044284 semapv:UnspecifiedMatching +OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:33140 semapv:UnspecifiedMatching +OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:MIR802 semapv:UnspecifiedMatching +OMIM:616090 MIR802 skos:exactMatch ncbigene:768219 semapv:UnspecifiedMatching +OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:19280 semapv:UnspecifiedMatching +OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:METTL17 semapv:UnspecifiedMatching +OMIM:616091 METTL17 skos:exactMatch ncbigene:64745 semapv:UnspecifiedMatching +OMIM:616092 FALEC skos:exactMatch hgnc.symbol:43713 semapv:UnspecifiedMatching +OMIM:616092 FALEC skos:exactMatch hgnc.symbol:FALEC semapv:UnspecifiedMatching +OMIM:616092 FALEC skos:exactMatch ncbigene:100874054 semapv:UnspecifiedMatching +OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 skos:exactMatch MONDO:0014489 semapv:UnspecifiedMatching +OMIM:616095 monocarboxylate transporter 1 deficiency skos:exactMatch MONDO:0014490 semapv:UnspecifiedMatching +OMIM:616096 MHRT skos:exactMatch hgnc.symbol:51291 semapv:UnspecifiedMatching +OMIM:616096 MHRT skos:exactMatch hgnc.symbol:MHRT semapv:UnspecifiedMatching +OMIM:616096 MHRT skos:exactMatch ncbigene:104564225 semapv:UnspecifiedMatching +OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:34399 semapv:UnspecifiedMatching +OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:UQCC3 semapv:UnspecifiedMatching +OMIM:616097 UQCC3 skos:exactMatch ncbigene:790955 semapv:UnspecifiedMatching +OMIM:616098 immunodeficiency 37 skos:exactMatch MONDO:0014491 semapv:UnspecifiedMatching +OMIM:616099 palmoplantar keratoderma and woolly hair skos:exactMatch MONDO:0014492 semapv:UnspecifiedMatching +OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation skos:exactMatch MONDO:0014493 semapv:UnspecifiedMatching +OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:25186 semapv:UnspecifiedMatching +OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:TMEM240 semapv:UnspecifiedMatching +OMIM:616101 TMEM240 skos:exactMatch ncbigene:339453 semapv:UnspecifiedMatching +OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:24718 semapv:UnspecifiedMatching +OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:TMX3 semapv:UnspecifiedMatching +OMIM:616102 TMX3 skos:exactMatch ncbigene:54495 semapv:UnspecifiedMatching +OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:23404 semapv:UnspecifiedMatching +OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:LRIT1 semapv:UnspecifiedMatching +OMIM:616103 LRIT1 skos:exactMatch ncbigene:26103 semapv:UnspecifiedMatching +OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:13761 semapv:UnspecifiedMatching +OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:RBPJL semapv:UnspecifiedMatching +OMIM:616104 RBPJL skos:exactMatch ncbigene:11317 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch UMLS:C1423104 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:14977 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:SNX14 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch ncbigene:57231 semapv:UnspecifiedMatching +OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch MONDO:0014494 semapv:UnspecifiedMatching +OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching +OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching +OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:26222 semapv:UnspecifiedMatching +OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:FAR1 semapv:UnspecifiedMatching +OMIM:616107 FAR1 skos:exactMatch ncbigene:84188 semapv:UnspecifiedMatching +OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome skos:exactMatch MONDO:0014495 semapv:UnspecifiedMatching +OMIM:616109 C11ORF80 skos:exactMatch hgnc.symbol:TOP6BL semapv:UnspecifiedMatching +OMIM:616109 C11ORF80 skos:exactMatch ncbigene:79703 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch UMLS:C1428799 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:29151 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:DTX4 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch ncbigene:23220 semapv:UnspecifiedMatching +OMIM:616111 mitochondrial complex 3 deficiency, nuclear iia 9 skos:exactMatch MONDO:0014496 semapv:UnspecifiedMatching +OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:6649 semapv:UnspecifiedMatching +OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:LMOD3 semapv:UnspecifiedMatching +OMIM:616112 LMOD3 skos:exactMatch ncbigene:56203 semapv:UnspecifiedMatching +OMIM:616113 polyendocrine-polyneuropathy syndrome skos:exactMatch MONDO:0014497 semapv:UnspecifiedMatching +OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:19057 semapv:UnspecifiedMatching +OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:CHD6 semapv:UnspecifiedMatching +OMIM:616114 CHD6 skos:exactMatch ncbigene:84181 semapv:UnspecifiedMatching +OMIM:616115 familial cold autoinflammatory syndrome 4 skos:exactMatch MONDO:0014498 semapv:UnspecifiedMatching +OMIM:616116 intellectual developmental disorder, autosomal recessive 46 skos:exactMatch MONDO:0014499 semapv:UnspecifiedMatching +OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch MONDO:0014500 semapv:UnspecifiedMatching +OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch Orphanet:436242 semapv:UnspecifiedMatching +OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch UMLS:C4015285 semapv:UnspecifiedMatching +OMIM:616118 macular degeneration, early-onset skos:exactMatch MONDO:0014501 semapv:UnspecifiedMatching +OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:32325 semapv:UnspecifiedMatching +OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:CFAP126 semapv:UnspecifiedMatching +OMIM:616119 CFAP126 skos:exactMatch ncbigene:257177 semapv:UnspecifiedMatching +OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:25613 semapv:UnspecifiedMatching +OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:CWF19L1 semapv:UnspecifiedMatching +OMIM:616120 CWF19L1 skos:exactMatch ncbigene:55280 semapv:UnspecifiedMatching +OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:25813 semapv:UnspecifiedMatching +OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:GVINP1 semapv:UnspecifiedMatching +OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:28268 semapv:UnspecifiedMatching +OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:FAM86B1 semapv:UnspecifiedMatching +OMIM:616122 FAM86B1 skos:exactMatch ncbigene:85002 semapv:UnspecifiedMatching +OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:32222 semapv:UnspecifiedMatching +OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:FAM86B2 semapv:UnspecifiedMatching +OMIM:616123 FAM86B2 skos:exactMatch ncbigene:653333 semapv:UnspecifiedMatching +OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:25561 semapv:UnspecifiedMatching +OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:FAM86C1P semapv:UnspecifiedMatching +OMIM:616124 FAM86C1P skos:exactMatch ncbigene:55199 semapv:UnspecifiedMatching +OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:25099 semapv:UnspecifiedMatching +OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:PRMT9 semapv:UnspecifiedMatching +OMIM:616125 PRMT9 skos:exactMatch ncbigene:90826 semapv:UnspecifiedMatching +OMIM:616126 immunodeficiency 38 with basal ganglia calcification skos:exactMatch MONDO:0014502 semapv:UnspecifiedMatching +OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 skos:exactMatch MONDO:0014503 semapv:UnspecifiedMatching +OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:16708 semapv:UnspecifiedMatching +OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:FAM89B semapv:UnspecifiedMatching +OMIM:616128 FAM89B skos:exactMatch ncbigene:23625 semapv:UnspecifiedMatching +OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:32327 semapv:UnspecifiedMatching +OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:LURAP1 semapv:UnspecifiedMatching +OMIM:616129 LURAP1 skos:exactMatch ncbigene:541468 semapv:UnspecifiedMatching +OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:31452 semapv:UnspecifiedMatching +OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:LURAP1L semapv:UnspecifiedMatching +OMIM:616130 LURAP1L skos:exactMatch ncbigene:286343 semapv:UnspecifiedMatching +OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:50516 semapv:UnspecifiedMatching +OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:GACAT2 semapv:UnspecifiedMatching +OMIM:616131 GACAT2 skos:exactMatch ncbigene:100287082 semapv:UnspecifiedMatching +OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:50847 semapv:UnspecifiedMatching +OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:GACAT3 semapv:UnspecifiedMatching +OMIM:616132 GACAT3 skos:exactMatch ncbigene:104797537 semapv:UnspecifiedMatching +OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:28177 semapv:UnspecifiedMatching +OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:MPV17L2 semapv:UnspecifiedMatching +OMIM:616133 MPV17L2 skos:exactMatch ncbigene:84769 semapv:UnspecifiedMatching +OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:33164 semapv:UnspecifiedMatching +OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:H3-5 semapv:UnspecifiedMatching +OMIM:616134 H3F3C skos:exactMatch ncbigene:440093 semapv:UnspecifiedMatching +OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:13328 semapv:UnspecifiedMatching +OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:IFIT5 semapv:UnspecifiedMatching +OMIM:616135 IFIT5 skos:exactMatch ncbigene:24138 semapv:UnspecifiedMatching +OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:25552 semapv:UnspecifiedMatching +OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:RNF220 semapv:UnspecifiedMatching +OMIM:616136 RNF220 skos:exactMatch ncbigene:55182 semapv:UnspecifiedMatching +OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:33663 semapv:UnspecifiedMatching +OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:MIR873 semapv:UnspecifiedMatching +OMIM:616137 MIR873 skos:exactMatch ncbigene:100126316 semapv:UnspecifiedMatching +OMIM:616138 perrault syndrome 5 skos:exactMatch MONDO:0014504 semapv:UnspecifiedMatching +OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch MONDO:0014505 semapv:UnspecifiedMatching +OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching +OMIM:616140 leukodystrophy, hypomyelinating, 9 skos:exactMatch MONDO:0014506 semapv:UnspecifiedMatching +OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:14453 semapv:UnspecifiedMatching +OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:MACROH2A2 semapv:UnspecifiedMatching +OMIM:616141 MACROH2A2 skos:exactMatch ncbigene:55506 semapv:UnspecifiedMatching +OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:26773 semapv:UnspecifiedMatching +OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:FAM98B semapv:UnspecifiedMatching +OMIM:616142 FAM98B skos:exactMatch ncbigene:283742 semapv:UnspecifiedMatching +OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:6738 semapv:UnspecifiedMatching +OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:LYPLA2 semapv:UnspecifiedMatching +OMIM:616143 LYPLA2 skos:exactMatch ncbigene:11313 semapv:UnspecifiedMatching +OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:25928 semapv:UnspecifiedMatching +OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:WDR73 semapv:UnspecifiedMatching +OMIM:616144 WDR73 skos:exactMatch ncbigene:84942 semapv:UnspecifiedMatching +OMIM:616145 catel-manzke syndrome skos:exactMatch MONDO:0014507 semapv:UnspecifiedMatching +OMIM:616146 TGDS skos:exactMatch hgnc.symbol:20324 semapv:UnspecifiedMatching +OMIM:616146 TGDS skos:exactMatch hgnc.symbol:TGDS semapv:UnspecifiedMatching +OMIM:616146 TGDS skos:exactMatch ncbigene:23483 semapv:UnspecifiedMatching +OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:14434 semapv:UnspecifiedMatching +OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:CDK15 semapv:UnspecifiedMatching +OMIM:616147 CDK15 skos:exactMatch ncbigene:65061 semapv:UnspecifiedMatching +OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:30834 semapv:UnspecifiedMatching +OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:TRIM59 semapv:UnspecifiedMatching +OMIM:616148 TRIM59 skos:exactMatch ncbigene:286827 semapv:UnspecifiedMatching +OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:25554 semapv:UnspecifiedMatching +OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:SLC25A36 semapv:UnspecifiedMatching +OMIM:616149 SLC25A36 skos:exactMatch ncbigene:55186 semapv:UnspecifiedMatching +OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:30451 semapv:UnspecifiedMatching +OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:SLC25A48 semapv:UnspecifiedMatching +OMIM:616150 SLC25A48 skos:exactMatch ncbigene:153328 semapv:UnspecifiedMatching +OMIM:616151 macular dystrophy, vitelliform, 4 skos:exactMatch MONDO:0014508 semapv:UnspecifiedMatching +OMIM:616152 macular dystrophy, vitelliform, 5 skos:exactMatch MONDO:0014509 semapv:UnspecifiedMatching +OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:23324 semapv:UnspecifiedMatching +OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:SLC25A52 semapv:UnspecifiedMatching +OMIM:616153 SLC25A52 skos:exactMatch ncbigene:147407 semapv:UnspecifiedMatching +OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder skos:exactMatch MONDO:0014510 semapv:UnspecifiedMatching +OMIM:616155 charcot-marie-tooth disease, axonal, iia 2s skos:exactMatch MONDO:0014511 semapv:UnspecifiedMatching +OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:25531 semapv:UnspecifiedMatching +OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:FAR2 semapv:UnspecifiedMatching +OMIM:616156 FAR2 skos:exactMatch ncbigene:55711 semapv:UnspecifiedMatching +OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:28326 semapv:UnspecifiedMatching +OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:DHRS13 semapv:UnspecifiedMatching +OMIM:616157 DHRS13 skos:exactMatch ncbigene:147015 semapv:UnspecifiedMatching +OMIM:616158 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties skos:exactMatch MONDO:0014512 semapv:UnspecifiedMatching +OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:28639 semapv:UnspecifiedMatching +OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:DHRS11 semapv:UnspecifiedMatching +OMIM:616159 DHRS11 skos:exactMatch ncbigene:79154 semapv:UnspecifiedMatching +OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:24547 semapv:UnspecifiedMatching +OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:DHRS7B semapv:UnspecifiedMatching +OMIM:616160 DHRS7B skos:exactMatch ncbigene:25979 semapv:UnspecifiedMatching +OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:32423 semapv:UnspecifiedMatching +OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:DHRS7C semapv:UnspecifiedMatching +OMIM:616161 DHRS7C skos:exactMatch ncbigene:201140 semapv:UnspecifiedMatching +OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:20275 semapv:UnspecifiedMatching +OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:SDR39U1 semapv:UnspecifiedMatching +OMIM:616162 SDR39U1 skos:exactMatch ncbigene:56948 semapv:UnspecifiedMatching +OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:25832 semapv:UnspecifiedMatching +OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:DHRS12 semapv:UnspecifiedMatching +OMIM:616163 DHRS12 skos:exactMatch ncbigene:79758 semapv:UnspecifiedMatching +OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:29834 semapv:UnspecifiedMatching +OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:SDR42E1 semapv:UnspecifiedMatching +OMIM:616164 SDR42E1 skos:exactMatch ncbigene:93517 semapv:UnspecifiedMatching +OMIM:616165 nemaline myopathy 10 skos:exactMatch MONDO:0014513 semapv:UnspecifiedMatching +OMIM:616166 aortic aneurysm, familial thoracic 9 skos:exactMatch MONDO:0014514 semapv:UnspecifiedMatching +OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:28734 semapv:UnspecifiedMatching +OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:DCUN1D3 semapv:UnspecifiedMatching +OMIM:616167 DCUN1D3 skos:exactMatch ncbigene:123879 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch UMLS:C2680495 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:34528 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:TOMM6 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch ncbigene:100188893 semapv:UnspecifiedMatching +OMIM:616169 TOMM5 skos:exactMatch UMLS:C1538341 semapv:UnspecifiedMatching +OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:31369 semapv:UnspecifiedMatching +OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:TOMM5 semapv:UnspecifiedMatching +OMIM:616169 TOMM5 skos:exactMatch ncbigene:401505 semapv:UnspecifiedMatching +OMIM:616170 macular dystrophy with central cone involvement skos:exactMatch MONDO:0014515 semapv:UnspecifiedMatching +OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 skos:exactMatch MONDO:0014516 semapv:UnspecifiedMatching +OMIM:616172 generalized epilepsy with febrile seizures plus, iia 9 skos:exactMatch MONDO:0014517 semapv:UnspecifiedMatching +OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:25305 semapv:UnspecifiedMatching +OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:NSRP1 semapv:UnspecifiedMatching +OMIM:616173 NSRP1 skos:exactMatch ncbigene:84081 semapv:UnspecifiedMatching +OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:26877 semapv:UnspecifiedMatching +OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:CKAP2L semapv:UnspecifiedMatching +OMIM:616174 CKAP2L skos:exactMatch ncbigene:150468 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch UMLS:C1425009 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:17598 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:UBE2J1 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch ncbigene:51465 semapv:UnspecifiedMatching +OMIM:616176 bleeding disorder, platelet-type, 19 skos:exactMatch MONDO:0014518 semapv:UnspecifiedMatching +OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:16110 semapv:UnspecifiedMatching +OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:DDRGK1 semapv:UnspecifiedMatching +OMIM:616177 DDRGK1 skos:exactMatch ncbigene:65992 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch UMLS:C1823395 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:26991 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:TMEM132E semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch ncbigene:124842 semapv:UnspecifiedMatching +OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:19965 semapv:UnspecifiedMatching +OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:TXNDC16 semapv:UnspecifiedMatching +OMIM:616179 TXNDC16 skos:exactMatch ncbigene:57544 semapv:UnspecifiedMatching +OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:31972 semapv:UnspecifiedMatching +OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:GOLGA8A semapv:UnspecifiedMatching +OMIM:616180 GOLGA8A skos:exactMatch ncbigene:23015 semapv:UnspecifiedMatching +OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:22043 semapv:UnspecifiedMatching +OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:ZNF713 semapv:UnspecifiedMatching +OMIM:616181 ZNF713 skos:exactMatch ncbigene:349075 semapv:UnspecifiedMatching +OMIM:616182 chronic mountain sickness, susceptibility to skos:exactMatch MONDO:0014519 semapv:UnspecifiedMatching +OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:28128 semapv:UnspecifiedMatching +OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:TMEM107 semapv:UnspecifiedMatching +OMIM:616183 TMEM107 skos:exactMatch ncbigene:84314 semapv:UnspecifiedMatching +OMIM:616184 CLUH skos:exactMatch hgnc.symbol:29094 semapv:UnspecifiedMatching +OMIM:616184 CLUH skos:exactMatch hgnc.symbol:CLUH semapv:UnspecifiedMatching +OMIM:616184 CLUH skos:exactMatch ncbigene:23277 semapv:UnspecifiedMatching +OMIM:616185 ovarian dysgenesis 4 skos:exactMatch MONDO:0014520 semapv:UnspecifiedMatching +OMIM:616186 h19/igf2-imprinting control region skos:exactMatch ncbigene:105259599 semapv:UnspecifiedMatching +OMIM:616187 epilepsy, progressive myoclonic 7 skos:exactMatch MONDO:0014521 semapv:UnspecifiedMatching +OMIM:616188 retinal dystrophy and obesity skos:exactMatch MONDO:0014522 semapv:UnspecifiedMatching +OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:21077 semapv:UnspecifiedMatching +OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:CMTR1 semapv:UnspecifiedMatching +OMIM:616189 CMTR1 skos:exactMatch ncbigene:23070 semapv:UnspecifiedMatching +OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:25635 semapv:UnspecifiedMatching +OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:CMTR2 semapv:UnspecifiedMatching +OMIM:616190 CMTR2 skos:exactMatch ncbigene:55783 semapv:UnspecifiedMatching +OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:24476 semapv:UnspecifiedMatching +OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:DLGAP4 semapv:UnspecifiedMatching +OMIM:616191 DLGAP4 skos:exactMatch ncbigene:22839 semapv:UnspecifiedMatching +OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus skos:exactMatch MONDO:0014523 semapv:UnspecifiedMatching +OMIM:616193 intellectual developmental disorder, autosomal recessive 47 skos:exactMatch MONDO:0014524 semapv:UnspecifiedMatching +OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:25758 semapv:UnspecifiedMatching +OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:UTP15 semapv:UnspecifiedMatching +OMIM:616194 UTP15 skos:exactMatch ncbigene:84135 semapv:UnspecifiedMatching +OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:28945 semapv:UnspecifiedMatching +OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:WDR43 semapv:UnspecifiedMatching +OMIM:616195 WDR43 skos:exactMatch ncbigene:23160 semapv:UnspecifiedMatching +OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:24535 semapv:UnspecifiedMatching +OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:DCAF13 semapv:UnspecifiedMatching +OMIM:616196 DCAF13 skos:exactMatch ncbigene:25879 semapv:UnspecifiedMatching +OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:25862 semapv:UnspecifiedMatching +OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:NOL10 semapv:UnspecifiedMatching +OMIM:616197 NOL10 skos:exactMatch ncbigene:79954 semapv:UnspecifiedMatching +OMIM:616198 combined oxidative phosphorylation deficiency 23 skos:exactMatch MONDO:0014525 semapv:UnspecifiedMatching +OMIM:616199 polyglucosan body myopathy 2 skos:exactMatch MONDO:0014526 semapv:UnspecifiedMatching +OMIM:616200 ruijs-aalfs syndrome skos:exactMatch MONDO:0014527 semapv:UnspecifiedMatching +OMIM:616201 chronic atrial and intestinal dysrhythmia skos:exactMatch MONDO:0014528 semapv:UnspecifiedMatching +OMIM:616202 cerebellofaciodental syndrome skos:exactMatch MONDO:0014529 semapv:UnspecifiedMatching +OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:26907 semapv:UnspecifiedMatching +OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:SLC38A9 semapv:UnspecifiedMatching +OMIM:616203 SLC38A9 skos:exactMatch ncbigene:153129 semapv:UnspecifiedMatching +OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 skos:exactMatch MONDO:0014530 semapv:UnspecifiedMatching +OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:32904 semapv:UnspecifiedMatching +OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:MIR648 semapv:UnspecifiedMatching +OMIM:616205 MIR648 skos:exactMatch ncbigene:693233 semapv:UnspecifiedMatching +OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:49075 semapv:UnspecifiedMatching +OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:NBAT1 semapv:UnspecifiedMatching +OMIM:616206 NBAT1 skos:exactMatch ncbigene:729177 semapv:UnspecifiedMatching +OMIM:616207 NRAV skos:exactMatch hgnc.symbol:48588 semapv:UnspecifiedMatching +OMIM:616207 NRAV skos:exactMatch hgnc.symbol:NRAV semapv:UnspecifiedMatching +OMIM:616207 NRAV skos:exactMatch ncbigene:100506668 semapv:UnspecifiedMatching +OMIM:616208 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia skos:exactMatch MONDO:0014531 semapv:UnspecifiedMatching +OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant skos:exactMatch MONDO:0014532 semapv:UnspecifiedMatching +OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:27320 semapv:UnspecifiedMatching +OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:C4orf46 semapv:UnspecifiedMatching +OMIM:616210 C4ORF46 skos:exactMatch ncbigene:201725 semapv:UnspecifiedMatching +OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch MONDO:0014533 semapv:UnspecifiedMatching +OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching +OMIM:616212 lissencephaly 6 with microcephaly skos:exactMatch MONDO:0014534 semapv:UnspecifiedMatching +OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:18410 semapv:UnspecifiedMatching +OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:ZNF292 semapv:UnspecifiedMatching +OMIM:616213 ZNF292 skos:exactMatch ncbigene:23036 semapv:UnspecifiedMatching +OMIM:616214 hyperproinsulinemia skos:exactMatch MONDO:0014535 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch UMLS:C1425827 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:18856 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:CREB3L1 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch ncbigene:90993 semapv:UnspecifiedMatching +OMIM:616216 thrombocytopenia 5 skos:exactMatch MONDO:0014536 semapv:UnspecifiedMatching +OMIM:616217 nephronophthisis 19 skos:exactMatch MONDO:0014537 semapv:UnspecifiedMatching +OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:25571 semapv:UnspecifiedMatching +OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:TBC1D13 semapv:UnspecifiedMatching +OMIM:616218 TBC1D13 skos:exactMatch ncbigene:54662 semapv:UnspecifiedMatching +OMIM:616219 fibrosis of extraocular muscles, congenital, 5 skos:exactMatch MONDO:0014538 semapv:UnspecifiedMatching +OMIM:616220 focal segmental glomerulosclerosis 9 skos:exactMatch MONDO:0014539 semapv:UnspecifiedMatching +OMIM:616221 amelogenesis imperfecta, iia 1h skos:exactMatch MONDO:0014540 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch MONDO:0014541 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254525 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254531 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch UMLS:C4015558 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch UMLS:C3469759 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:24933 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:ANGPTL8 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch ncbigene:55908 semapv:UnspecifiedMatching +OMIM:616224 myasthenic syndrome, congenital, 22 skos:exactMatch MONDO:0044299 semapv:UnspecifiedMatching +OMIM:616225 ATG2A skos:exactMatch UMLS:C2239907 semapv:UnspecifiedMatching +OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:29028 semapv:UnspecifiedMatching +OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:ATG2A semapv:UnspecifiedMatching +OMIM:616225 ATG2A skos:exactMatch ncbigene:23130 semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch UMLS:C1426760 semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:20187 semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:ATG2B semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch ncbigene:55102 semapv:UnspecifiedMatching +OMIM:616227 myasthenic syndrome, congenital, 15 skos:exactMatch MONDO:0014542 semapv:UnspecifiedMatching +OMIM:616228 myasthenic syndrome, congenital, 14 skos:exactMatch MONDO:0014543 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch MONDO:0014544 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching +OMIM:616230 epilepsy, progressive myoclonic, 8 skos:exactMatch MONDO:0014545 semapv:UnspecifiedMatching +OMIM:616231 myopathy, vacuolar, with casq1 aggregates skos:exactMatch MONDO:0014546 semapv:UnspecifiedMatching +OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:51253 semapv:UnspecifiedMatching +OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:MEIKIN semapv:UnspecifiedMatching +OMIM:616232 MEIKIN skos:exactMatch ncbigene:728637 semapv:UnspecifiedMatching +OMIM:616234 WDCP skos:exactMatch hgnc.symbol:26157 semapv:UnspecifiedMatching +OMIM:616234 WDCP skos:exactMatch hgnc.symbol:WDCP semapv:UnspecifiedMatching +OMIM:616234 WDCP skos:exactMatch ncbigene:80304 semapv:UnspecifiedMatching +OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:26199 semapv:UnspecifiedMatching +OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:KATNBL1 semapv:UnspecifiedMatching +OMIM:616235 KATNBL1 skos:exactMatch ncbigene:79768 semapv:UnspecifiedMatching +OMIM:616236 CHADL skos:exactMatch hgnc.symbol:25165 semapv:UnspecifiedMatching +OMIM:616236 CHADL skos:exactMatch hgnc.symbol:CHADL semapv:UnspecifiedMatching +OMIM:616236 CHADL skos:exactMatch ncbigene:150356 semapv:UnspecifiedMatching +OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:29374 semapv:UnspecifiedMatching +OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:KNDC1 semapv:UnspecifiedMatching +OMIM:616237 KNDC1 skos:exactMatch ncbigene:85442 semapv:UnspecifiedMatching +OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:19883 semapv:UnspecifiedMatching +OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:ZBTB49 semapv:UnspecifiedMatching +OMIM:616238 ZBTB49 skos:exactMatch ncbigene:166793 semapv:UnspecifiedMatching +OMIM:616239 combined oxidative phosphorylation deficiency 24 skos:exactMatch MONDO:0014547 semapv:UnspecifiedMatching +OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:28060 semapv:UnspecifiedMatching +OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:OLMALINC semapv:UnspecifiedMatching +OMIM:616240 OLMALINC skos:exactMatch ncbigene:90271 semapv:UnspecifiedMatching +OMIM:616241 METRNL skos:exactMatch hgnc.symbol:27584 semapv:UnspecifiedMatching +OMIM:616241 METRNL skos:exactMatch hgnc.symbol:METRNL semapv:UnspecifiedMatching +OMIM:616241 METRNL skos:exactMatch ncbigene:284207 semapv:UnspecifiedMatching +OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:29116 semapv:UnspecifiedMatching +OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:TMCC1 semapv:UnspecifiedMatching +OMIM:616242 TMCC1 skos:exactMatch ncbigene:23023 semapv:UnspecifiedMatching +OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:29146 semapv:UnspecifiedMatching +OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:TMEM131L semapv:UnspecifiedMatching +OMIM:616243 TMEM131L skos:exactMatch ncbigene:23240 semapv:UnspecifiedMatching +OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:21645 semapv:UnspecifiedMatching +OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:CHCHD2 semapv:UnspecifiedMatching +OMIM:616244 CHCHD2 skos:exactMatch ncbigene:51142 semapv:UnspecifiedMatching +OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:28032 semapv:UnspecifiedMatching +OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:EMC4 semapv:UnspecifiedMatching +OMIM:616245 EMC4 skos:exactMatch ncbigene:51234 semapv:UnspecifiedMatching +OMIM:616246 MRLN skos:exactMatch hgnc.symbol:48649 semapv:UnspecifiedMatching +OMIM:616246 MRLN skos:exactMatch hgnc.symbol:MRLN semapv:UnspecifiedMatching +OMIM:616246 MRLN skos:exactMatch ncbigene:100507027 semapv:UnspecifiedMatching +OMIM:616247 long qt syndrome 14 skos:exactMatch MONDO:0014548 semapv:UnspecifiedMatching +OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching +OMIM:616247 long qt syndrome 14 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching +OMIM:616248 lethal congenital contracture syndrome 6 skos:exactMatch MONDO:0014549 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch MONDO:0014550 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching +OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:27619 semapv:UnspecifiedMatching +OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:NWD1 semapv:UnspecifiedMatching +OMIM:616250 NWD1 skos:exactMatch ncbigene:284434 semapv:UnspecifiedMatching +OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:22201 semapv:UnspecifiedMatching +OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:TCAF1 semapv:UnspecifiedMatching +OMIM:616251 TCAF1 skos:exactMatch ncbigene:9747 semapv:UnspecifiedMatching +OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:26878 semapv:UnspecifiedMatching +OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:TCAF2 semapv:UnspecifiedMatching +OMIM:616252 TCAF2 skos:exactMatch ncbigene:285966 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch UMLS:C2239511 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch UMLS:C5231440 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:24959 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:GSX2 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch ncbigene:170825 semapv:UnspecifiedMatching +OMIM:616254 CLPB skos:exactMatch hgnc.symbol:30664 semapv:UnspecifiedMatching +OMIM:616254 CLPB skos:exactMatch hgnc.symbol:CLPB semapv:UnspecifiedMatching +OMIM:616254 CLPB skos:exactMatch ncbigene:81570 semapv:UnspecifiedMatching +OMIM:616255 short stature with nonspecific skeletal abnormalities skos:exactMatch MONDO:0014551 semapv:UnspecifiedMatching +OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:24591 semapv:UnspecifiedMatching +OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:CLEC4G semapv:UnspecifiedMatching +OMIM:616256 CLEC4G skos:exactMatch ncbigene:339390 semapv:UnspecifiedMatching +OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:3725 semapv:UnspecifiedMatching +OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:FKBP9 semapv:UnspecifiedMatching +OMIM:616257 FKBP9 skos:exactMatch ncbigene:11328 semapv:UnspecifiedMatching +OMIM:616258 meckel syndrome 12 skos:exactMatch MONDO:0014552 semapv:UnspecifiedMatching +OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:37462 semapv:UnspecifiedMatching +OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:SNHG14 semapv:UnspecifiedMatching +OMIM:616259 SNHG14 skos:exactMatch ncbigene:104472715 semapv:UnspecifiedMatching +OMIM:616260 tenorio syndrome skos:exactMatch MONDO:0014553 semapv:UnspecifiedMatching +OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:26033 semapv:UnspecifiedMatching +OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:PUS7 semapv:UnspecifiedMatching +OMIM:616261 PUS7 skos:exactMatch ncbigene:54517 semapv:UnspecifiedMatching +OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:29041 semapv:UnspecifiedMatching +OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:KLHL21 semapv:UnspecifiedMatching +OMIM:616262 KLHL21 skos:exactMatch ncbigene:9903 semapv:UnspecifiedMatching +OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:exactMatch MONDO:8000012 semapv:UnspecifiedMatching +OMIM:616264 MAFTRR skos:exactMatch UMLS:C3891017 semapv:UnspecifiedMatching +OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:51525 semapv:UnspecifiedMatching +OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:MAFTRR semapv:UnspecifiedMatching +OMIM:616264 MAFTRR skos:exactMatch ncbigene:102467146 semapv:UnspecifiedMatching +OMIM:616265 peeling skin syndrome 3 skos:exactMatch MONDO:0014555 semapv:UnspecifiedMatching +OMIM:616266 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch MONDO:0014556 semapv:UnspecifiedMatching +OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch MONDO:0014557 semapv:UnspecifiedMatching +OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching +OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching +OMIM:616268 arboleda-tham syndrome skos:exactMatch MONDO:0014558 semapv:UnspecifiedMatching +OMIM:616268 arboleda-tham syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching +OMIM:616268 arboleda-tham syndrome skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching +OMIM:616269 intellectual developmental disorder, autosomal recessive 48 skos:exactMatch MONDO:0014559 semapv:UnspecifiedMatching +OMIM:616270 amelogenesis imperfecta, iia 1f skos:exactMatch MONDO:0014560 semapv:UnspecifiedMatching +OMIM:616271 3-methylglutaconic aciduria, iia 7b skos:exactMatch MONDO:0014561 semapv:UnspecifiedMatching +OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:32116 semapv:UnspecifiedMatching +OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:MIR520G semapv:UnspecifiedMatching +OMIM:616272 MIR520G skos:exactMatch ncbigene:574484 semapv:UnspecifiedMatching +OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:50895 semapv:UnspecifiedMatching +OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:PCAT29 semapv:UnspecifiedMatching +OMIM:616273 PCAT29 skos:exactMatch ncbigene:104472713 semapv:UnspecifiedMatching +OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:38232 semapv:UnspecifiedMatching +OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:MIR4276 semapv:UnspecifiedMatching +OMIM:616274 MIR4276 skos:exactMatch ncbigene:100423042 semapv:UnspecifiedMatching +OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:25911 semapv:UnspecifiedMatching +OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:FAM136A semapv:UnspecifiedMatching +OMIM:616275 FAM136A skos:exactMatch ncbigene:84908 semapv:UnspecifiedMatching +OMIM:616276 coenzyme Q10 deficiency, primary, 7 skos:exactMatch MONDO:0014562 semapv:UnspecifiedMatching +OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch MONDO:0014563 semapv:UnspecifiedMatching +OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching +OMIM:616278 bile acid synthesis defect, congenital, 5 skos:exactMatch MONDO:0014564 semapv:UnspecifiedMatching +OMIM:616279 cataract 43 skos:exactMatch MONDO:0014565 semapv:UnspecifiedMatching +OMIM:616280 charcot-marie-tooth disease, axonal, iia 2u skos:exactMatch MONDO:0014566 semapv:UnspecifiedMatching +OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch MONDO:0014567 semapv:UnspecifiedMatching +OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch Orphanet:477673 semapv:UnspecifiedMatching +OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching +OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch MONDO:0014568 semapv:UnspecifiedMatching +OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch Orphanet:444099 semapv:UnspecifiedMatching +OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch UMLS:C4225387 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch UMLS:C1538753 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:25461 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:PUS3 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch ncbigene:83480 semapv:UnspecifiedMatching +OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:33276 semapv:UnspecifiedMatching +OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:FLG2 semapv:UnspecifiedMatching +OMIM:616284 FLG2 skos:exactMatch ncbigene:388698 semapv:UnspecifiedMatching +OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:18267 semapv:UnspecifiedMatching +OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:FMNL2 semapv:UnspecifiedMatching +OMIM:616285 FMNL2 skos:exactMatch ncbigene:114793 semapv:UnspecifiedMatching +OMIM:616286 lethal congenital contracture syndrome 7 skos:exactMatch MONDO:0014569 semapv:UnspecifiedMatching +OMIM:616287 lethal congenital contracture syndrome 8 skos:exactMatch MONDO:0014570 semapv:UnspecifiedMatching +OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:23698 semapv:UnspecifiedMatching +OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:FMNL3 semapv:UnspecifiedMatching +OMIM:616288 FMNL3 skos:exactMatch ncbigene:91010 semapv:UnspecifiedMatching +OMIM:616289 optic atrophy 9 skos:exactMatch MONDO:0014571 semapv:UnspecifiedMatching +OMIM:616289 optic atrophy 9 skos:exactMatch Orphanet:98676 semapv:UnspecifiedMatching +OMIM:616289 optic atrophy 9 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching +OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:25226 semapv:UnspecifiedMatching +OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:ZNF658 semapv:UnspecifiedMatching +OMIM:616290 ZNF658 skos:exactMatch ncbigene:26149 semapv:UnspecifiedMatching +OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch MONDO:0014572 semapv:UnspecifiedMatching +OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch Orphanet:448251 semapv:UnspecifiedMatching +OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching +OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:28566 semapv:UnspecifiedMatching +OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:SAXO1 semapv:UnspecifiedMatching +OMIM:616292 SAXO1 skos:exactMatch ncbigene:158297 semapv:UnspecifiedMatching +OMIM:616293 HRNR skos:exactMatch hgnc.symbol:20846 semapv:UnspecifiedMatching +OMIM:616293 HRNR skos:exactMatch hgnc.symbol:HRNR semapv:UnspecifiedMatching +OMIM:616293 HRNR skos:exactMatch ncbigene:388697 semapv:UnspecifiedMatching +OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch MONDO:0014573 semapv:UnspecifiedMatching +OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch Orphanet:2050 semapv:UnspecifiedMatching +OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch UMLS:C4225382 semapv:UnspecifiedMatching +OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads skos:exactMatch MONDO:0014574 semapv:UnspecifiedMatching +OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:26183 semapv:UnspecifiedMatching +OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:MCTP1 semapv:UnspecifiedMatching +OMIM:616296 MCTP1 skos:exactMatch ncbigene:79772 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch UMLS:C1825955 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:25636 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:MCTP2 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch ncbigene:55784 semapv:UnspecifiedMatching +OMIM:616298 singleton-merten syndrome 2 skos:exactMatch MONDO:0014575 semapv:UnspecifiedMatching +OMIM:616298 singleton-merten syndrome 2 skos:exactMatch Orphanet:85191 semapv:UnspecifiedMatching +OMIM:616298 singleton-merten syndrome 2 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching +OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch MONDO:0014576 semapv:UnspecifiedMatching +OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch Orphanet:401862 semapv:UnspecifiedMatching +OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch UMLS:C4225379 semapv:UnspecifiedMatching +OMIM:616300 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch MONDO:0014577 semapv:UnspecifiedMatching +OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:16848 semapv:UnspecifiedMatching +OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:CD300LD semapv:UnspecifiedMatching +OMIM:616301 CD300LD skos:exactMatch ncbigene:100131439 semapv:UnspecifiedMatching +OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:23480 semapv:UnspecifiedMatching +OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:FOXK1 semapv:UnspecifiedMatching +OMIM:616302 FOXK1 skos:exactMatch ncbigene:221937 semapv:UnspecifiedMatching +OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:24997 semapv:UnspecifiedMatching +OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:WDR91 semapv:UnspecifiedMatching +OMIM:616303 WDR91 skos:exactMatch ncbigene:29062 semapv:UnspecifiedMatching +OMIM:616304 myasthenic syndrome, congenital, 17 skos:exactMatch MONDO:0014578 semapv:UnspecifiedMatching +OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:25491 semapv:UnspecifiedMatching +OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:FRMD4A semapv:UnspecifiedMatching +OMIM:616305 FRMD4A skos:exactMatch ncbigene:55691 semapv:UnspecifiedMatching +OMIM:616306 FSBP skos:exactMatch hgnc.symbol:43653 semapv:UnspecifiedMatching +OMIM:616306 FSBP skos:exactMatch hgnc.symbol:FSBP semapv:UnspecifiedMatching +OMIM:616306 FSBP skos:exactMatch ncbigene:100861412 semapv:UnspecifiedMatching +OMIM:616307 senior-loken syndrome 8 skos:exactMatch MONDO:0014579 semapv:UnspecifiedMatching +OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:49033 semapv:UnspecifiedMatching +OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:BGLT3 semapv:UnspecifiedMatching +OMIM:616308 BGLT3 skos:exactMatch ncbigene:103344929 semapv:UnspecifiedMatching +OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:28214 semapv:UnspecifiedMatching +OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:FRMD5 semapv:UnspecifiedMatching +OMIM:616309 FRMD5 skos:exactMatch ncbigene:84978 semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch UMLS:C1538923 semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:15782 semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:ARHGAP11B semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch ncbigene:89839 semapv:UnspecifiedMatching +OMIM:616311 intellectual developmental disorder, autosomal dominant 33 skos:exactMatch MONDO:0014580 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch UMLS:C1427448 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:21244 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:LEMD2 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch ncbigene:221496 semapv:UnspecifiedMatching +OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel skos:exactMatch MONDO:0014581 semapv:UnspecifiedMatching +OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency skos:exactMatch MONDO:0014582 semapv:UnspecifiedMatching +OMIM:616315 PAXX skos:exactMatch hgnc.symbol:27849 semapv:UnspecifiedMatching +OMIM:616315 PAXX skos:exactMatch hgnc.symbol:PAXX semapv:UnspecifiedMatching +OMIM:616315 PAXX skos:exactMatch ncbigene:286257 semapv:UnspecifiedMatching +OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:28999 semapv:UnspecifiedMatching +OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:FAM168A semapv:UnspecifiedMatching +OMIM:616316 FAM168A skos:exactMatch ncbigene:23201 semapv:UnspecifiedMatching +OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:20883 semapv:UnspecifiedMatching +OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:GDPD1 semapv:UnspecifiedMatching +OMIM:616317 GDPD1 skos:exactMatch ncbigene:284161 semapv:UnspecifiedMatching +OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:28638 semapv:UnspecifiedMatching +OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:GDPD3 semapv:UnspecifiedMatching +OMIM:616318 GDPD3 skos:exactMatch ncbigene:79153 semapv:UnspecifiedMatching +OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:17765 semapv:UnspecifiedMatching +OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:RNF138 semapv:UnspecifiedMatching +OMIM:616319 RNF138 skos:exactMatch ncbigene:51444 semapv:UnspecifiedMatching +OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:14169 semapv:UnspecifiedMatching +OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:FAHD1 semapv:UnspecifiedMatching +OMIM:616320 FAHD1 skos:exactMatch ncbigene:81889 semapv:UnspecifiedMatching +OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel skos:exactMatch MONDO:0014583 semapv:UnspecifiedMatching +OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch MONDO:0014584 semapv:UnspecifiedMatching +OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching +OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching +OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch UMLS:C4225371 semapv:UnspecifiedMatching +OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency skos:exactMatch MONDO:0014585 semapv:UnspecifiedMatching +OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel skos:exactMatch MONDO:0014586 semapv:UnspecifiedMatching +OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency skos:exactMatch MONDO:0014587 semapv:UnspecifiedMatching +OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency skos:exactMatch MONDO:0014588 semapv:UnspecifiedMatching +OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:20311 semapv:UnspecifiedMatching +OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:CHAMP1 semapv:UnspecifiedMatching +OMIM:616327 CHAMP1 skos:exactMatch ncbigene:283489 semapv:UnspecifiedMatching +OMIM:616328 long intergenic noncoding RNA pinky skos:exactMatch ncbigene:105447646 semapv:UnspecifiedMatching +OMIM:616329 maturity-onset diabetes of the young, iia 13 skos:exactMatch MONDO:0014589 semapv:UnspecifiedMatching +OMIM:616330 myasthenic syndrome, congenital, 18 skos:exactMatch MONDO:0014590 semapv:UnspecifiedMatching +OMIM:616331 robinow syndrome, autosomal dominant 2 skos:exactMatch MONDO:0014591 semapv:UnspecifiedMatching +OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:17872 semapv:UnspecifiedMatching +OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:ARMT1 semapv:UnspecifiedMatching +OMIM:616332 ARMT1 skos:exactMatch ncbigene:79624 semapv:UnspecifiedMatching +OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:51639 semapv:UnspecifiedMatching +OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:WSPAR semapv:UnspecifiedMatching +OMIM:616333 WSPAR skos:exactMatch ncbigene:105664404 semapv:UnspecifiedMatching +OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:25607 semapv:UnspecifiedMatching +OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:TMEM100 semapv:UnspecifiedMatching +OMIM:616334 TMEM100 skos:exactMatch ncbigene:55273 semapv:UnspecifiedMatching +OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 skos:exactMatch MONDO:0014592 semapv:UnspecifiedMatching +OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:37281 semapv:UnspecifiedMatching +OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:AKR1B15 semapv:UnspecifiedMatching +OMIM:616336 AKR1B15 skos:exactMatch ncbigene:441282 semapv:UnspecifiedMatching +OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:19392 semapv:UnspecifiedMatching +OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:SOCS4 semapv:UnspecifiedMatching +OMIM:616337 SOCS4 skos:exactMatch ncbigene:122809 semapv:UnspecifiedMatching +OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:20209 semapv:UnspecifiedMatching +OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:SOX2-OT semapv:UnspecifiedMatching +OMIM:616338 SOX2OT skos:exactMatch ncbigene:347689 semapv:UnspecifiedMatching +OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch MONDO:0014593 semapv:UnspecifiedMatching +OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching +OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch MONDO:0014594 semapv:UnspecifiedMatching +OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch UMLS:C4084712 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch MONDO:0014595 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching +OMIM:616342 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch MONDO:0014596 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch UMLS:C4085705 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:43652 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:TP53COR1 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch ncbigene:102800311 semapv:UnspecifiedMatching +OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:26355 semapv:UnspecifiedMatching +OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:TTC23L semapv:UnspecifiedMatching +OMIM:616344 TTC23L skos:exactMatch ncbigene:153657 semapv:UnspecifiedMatching +OMIM:616345 immunodeficiency 39 skos:exactMatch MONDO:0014597 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch MONDO:0014598 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching +OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:13996 semapv:UnspecifiedMatching +OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:PRDM11 semapv:UnspecifiedMatching +OMIM:616347 PRDM11 skos:exactMatch ncbigene:56981 semapv:UnspecifiedMatching +OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:30954 semapv:UnspecifiedMatching +OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:ZNF695 semapv:UnspecifiedMatching +OMIM:616348 ZNF695 skos:exactMatch ncbigene:57116 semapv:UnspecifiedMatching +OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:24098 semapv:UnspecifiedMatching +OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:SORBS2 semapv:UnspecifiedMatching +OMIM:616349 SORBS2 skos:exactMatch ncbigene:8470 semapv:UnspecifiedMatching +OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:50886 semapv:UnspecifiedMatching +OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:PARTICL semapv:UnspecifiedMatching +OMIM:616350 PARTICL skos:exactMatch ncbigene:100630918 semapv:UnspecifiedMatching +OMIM:616351 intellectual developmental disorder, autosomal dominant 34 skos:exactMatch MONDO:0014599 semapv:UnspecifiedMatching +OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:23339 semapv:UnspecifiedMatching +OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:ACBD6 semapv:UnspecifiedMatching +OMIM:616352 ACBD6 skos:exactMatch ncbigene:84320 semapv:UnspecifiedMatching +OMIM:616353 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch MONDO:0014600 semapv:UnspecifiedMatching +OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch MONDO:0014601 semapv:UnspecifiedMatching +OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching +OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching +OMIM:616355 houge-janssens syndrome 1 skos:exactMatch MONDO:0014602 semapv:UnspecifiedMatching +OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:37187 semapv:UnspecifiedMatching +OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:MIR31HG semapv:UnspecifiedMatching +OMIM:616356 MIR31HG skos:exactMatch ncbigene:554202 semapv:UnspecifiedMatching +OMIM:616357 deafness, autosomal dominant 40 skos:exactMatch MONDO:0014603 semapv:UnspecifiedMatching +OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:31872 semapv:UnspecifiedMatching +OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:MIR379 semapv:UnspecifiedMatching +OMIM:616358 MIR379 skos:exactMatch ncbigene:494328 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch UMLS:C1824777 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:28722 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:COQ5 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch ncbigene:84274 semapv:UnspecifiedMatching +OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:26167 semapv:UnspecifiedMatching +OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:TMEM135 semapv:UnspecifiedMatching +OMIM:616360 TMEM135 skos:exactMatch ncbigene:65084 semapv:UnspecifiedMatching +OMIM:616361 parkinson disease 21 skos:exactMatch MONDO:0014604 semapv:UnspecifiedMatching +OMIM:616362 houge-janssens syndrome 2 skos:exactMatch MONDO:0014605 semapv:UnspecifiedMatching +OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:23173 semapv:UnspecifiedMatching +OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:SPRR4 semapv:UnspecifiedMatching +OMIM:616363 SPRR4 skos:exactMatch ncbigene:163778 semapv:UnspecifiedMatching +OMIM:616364 white-sutton syndrome skos:exactMatch MONDO:0014606 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch UMLS:C1539735 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:19286 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:SCYL2 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch ncbigene:55681 semapv:UnspecifiedMatching +OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch MONDO:0014607 semapv:UnspecifiedMatching +OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching +OMIM:616367 mandibulofacial dysostosis with alopecia skos:exactMatch MONDO:0014608 semapv:UnspecifiedMatching +OMIM:616368 chops syndrome skos:exactMatch MONDO:0014609 semapv:UnspecifiedMatching +OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch MONDO:0014611 semapv:UnspecifiedMatching +OMIM:616371 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 skos:exactMatch MONDO:0014612 semapv:UnspecifiedMatching +OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:20229 semapv:UnspecifiedMatching +OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:DCAF4 semapv:UnspecifiedMatching +OMIM:616372 DCAF4 skos:exactMatch ncbigene:26094 semapv:UnspecifiedMatching +OMIM:616373 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 skos:exactMatch MONDO:0014613 semapv:UnspecifiedMatching +OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:23040 semapv:UnspecifiedMatching +OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:BEND3 semapv:UnspecifiedMatching +OMIM:616374 BEND3 skos:exactMatch ncbigene:57673 semapv:UnspecifiedMatching +OMIM:616375 UNK skos:exactMatch hgnc.symbol:29369 semapv:UnspecifiedMatching +OMIM:616375 UNK skos:exactMatch hgnc.symbol:UNK semapv:UnspecifiedMatching +OMIM:616375 UNK skos:exactMatch ncbigene:85451 semapv:UnspecifiedMatching +OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:32912 semapv:UnspecifiedMatching +OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:MIR656 semapv:UnspecifiedMatching +OMIM:616376 MIR656 skos:exactMatch ncbigene:724026 semapv:UnspecifiedMatching +OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:17325 semapv:UnspecifiedMatching +OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:PRODH2 semapv:UnspecifiedMatching +OMIM:616377 PRODH2 skos:exactMatch ncbigene:58510 semapv:UnspecifiedMatching +OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:18402 semapv:UnspecifiedMatching +OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:UBXN1 semapv:UnspecifiedMatching +OMIM:616378 UBXN1 skos:exactMatch ncbigene:51035 semapv:UnspecifiedMatching +OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:29119 semapv:UnspecifiedMatching +OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:UBXN7 semapv:UnspecifiedMatching +OMIM:616379 UBXN7 skos:exactMatch ncbigene:26043 semapv:UnspecifiedMatching +OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:6491 semapv:UnspecifiedMatching +OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:LAMB4 semapv:UnspecifiedMatching +OMIM:616380 LAMB4 skos:exactMatch ncbigene:22798 semapv:UnspecifiedMatching +OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:25265 semapv:UnspecifiedMatching +OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:ZCCHC8 semapv:UnspecifiedMatching +OMIM:616381 ZCCHC8 skos:exactMatch ncbigene:55596 semapv:UnspecifiedMatching +OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:28528 semapv:UnspecifiedMatching +OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:UGT2A3 semapv:UnspecifiedMatching +OMIM:616382 UGT2A3 skos:exactMatch ncbigene:79799 semapv:UnspecifiedMatching +OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:26625 semapv:UnspecifiedMatching +OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:UGT3A1 semapv:UnspecifiedMatching +OMIM:616383 UGT3A1 skos:exactMatch ncbigene:133688 semapv:UnspecifiedMatching +OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:27266 semapv:UnspecifiedMatching +OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:UGT3A2 semapv:UnspecifiedMatching +OMIM:616384 UGT3A2 skos:exactMatch ncbigene:167127 semapv:UnspecifiedMatching +OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:27394 semapv:UnspecifiedMatching +OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:LINC01018 semapv:UnspecifiedMatching +OMIM:616385 LINC01018 skos:exactMatch ncbigene:255167 semapv:UnspecifiedMatching +OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:25705 semapv:UnspecifiedMatching +OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:KCTD17 semapv:UnspecifiedMatching +OMIM:616386 KCTD17 skos:exactMatch ncbigene:79734 semapv:UnspecifiedMatching +OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:27082 semapv:UnspecifiedMatching +OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:DRAIC semapv:UnspecifiedMatching +OMIM:616387 DRAIC skos:exactMatch ncbigene:145837 semapv:UnspecifiedMatching +OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:25683 semapv:UnspecifiedMatching +OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:UBTD1 semapv:UnspecifiedMatching +OMIM:616388 UBTD1 skos:exactMatch ncbigene:80019 semapv:UnspecifiedMatching +OMIM:616389 night blindness, congenital stationary, iia 1g skos:exactMatch MONDO:0014614 semapv:UnspecifiedMatching +OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch MONDO:0014615 semapv:UnspecifiedMatching +OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching +OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch UMLS:C4225344 semapv:UnspecifiedMatching +OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:26353 semapv:UnspecifiedMatching +OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:RANBP3L semapv:UnspecifiedMatching +OMIM:616391 RANBP3L skos:exactMatch ncbigene:202151 semapv:UnspecifiedMatching +OMIM:616392 skint1-like pseudogene skos:exactMatch MONDO:0014616 semapv:UnspecifiedMatching +OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:33993 semapv:UnspecifiedMatching +OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:SKINT1L semapv:UnspecifiedMatching +OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch MONDO:0014617 semapv:UnspecifiedMatching +OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching +OMIM:616394 retinitis pigmentosa 71 skos:exactMatch MONDO:0014618 semapv:UnspecifiedMatching +OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch MONDO:0014619 semapv:UnspecifiedMatching +OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching +OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch UMLS:C1425943 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:19003 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:SCMH1 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch ncbigene:22955 semapv:UnspecifiedMatching +OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:15920 semapv:UnspecifiedMatching +OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:PXMP4 semapv:UnspecifiedMatching +OMIM:616397 PXMP4 skos:exactMatch ncbigene:11264 semapv:UnspecifiedMatching +OMIM:616398 dystonia 26, myoclonic skos:exactMatch MONDO:0014620 semapv:UnspecifiedMatching +OMIM:616399 brugada syndrome 9 skos:exactMatch MONDO:0014621 semapv:UnspecifiedMatching +OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 skos:exactMatch MONDO:0014622 semapv:UnspecifiedMatching +OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:26010 semapv:UnspecifiedMatching +OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:SPDL1 semapv:UnspecifiedMatching +OMIM:616401 SPDL1 skos:exactMatch ncbigene:54908 semapv:UnspecifiedMatching +OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch MONDO:0014623 semapv:UnspecifiedMatching +OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching +OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:17026 semapv:UnspecifiedMatching +OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:TP53TG1 semapv:UnspecifiedMatching +OMIM:616403 TP53TG1 skos:exactMatch ncbigene:11257 semapv:UnspecifiedMatching +OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:17264 semapv:UnspecifiedMatching +OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:POLR1A semapv:UnspecifiedMatching +OMIM:616404 POLR1A skos:exactMatch ncbigene:25885 semapv:UnspecifiedMatching +OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:19679 semapv:UnspecifiedMatching +OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:AAK1 semapv:UnspecifiedMatching +OMIM:616405 AAK1 skos:exactMatch ncbigene:22848 semapv:UnspecifiedMatching +OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:30262 semapv:UnspecifiedMatching +OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:PYCR2 semapv:UnspecifiedMatching +OMIM:616406 PYCR2 skos:exactMatch ncbigene:29920 semapv:UnspecifiedMatching +OMIM:616407 brown syndrome skos:exactMatch MONDO:0014624 semapv:UnspecifiedMatching +OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:25846 semapv:UnspecifiedMatching +OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:PYCR3 semapv:UnspecifiedMatching +OMIM:616408 PYCRL skos:exactMatch ncbigene:65263 semapv:UnspecifiedMatching +OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch MONDO:0014625 semapv:UnspecifiedMatching +OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching +OMIM:616410 spinocerebellar ataxia 41 skos:exactMatch MONDO:0014626 semapv:UnspecifiedMatching +OMIM:616411 dystonia 27 skos:exactMatch MONDO:0014627 semapv:UnspecifiedMatching +OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:21073 semapv:UnspecifiedMatching +OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:TXNDC5 semapv:UnspecifiedMatching +OMIM:616412 TXNDC5 skos:exactMatch ncbigene:81567 semapv:UnspecifiedMatching +OMIM:616413 basal ganglia calcification, idiopathic, 6 skos:exactMatch MONDO:0014628 semapv:UnspecifiedMatching +OMIM:616414 autoimmune interstitial lung, joint, and kidney disease skos:exactMatch MONDO:0014629 semapv:UnspecifiedMatching +OMIM:616415 familial adenomatous polyposis 3 skos:exactMatch MONDO:0014630 semapv:UnspecifiedMatching +OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:20973 semapv:UnspecifiedMatching +OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:ADGRL1 semapv:UnspecifiedMatching +OMIM:616416 ADGRL1 skos:exactMatch ncbigene:22859 semapv:UnspecifiedMatching +OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:20974 semapv:UnspecifiedMatching +OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:ADGRL3 semapv:UnspecifiedMatching +OMIM:616417 ADGRL3 skos:exactMatch ncbigene:23284 semapv:UnspecifiedMatching +OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 skos:exactMatch MONDO:0020787 semapv:UnspecifiedMatching +OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:20822 semapv:UnspecifiedMatching +OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:ADGRL4 semapv:UnspecifiedMatching +OMIM:616419 ADGRL4 skos:exactMatch ncbigene:64123 semapv:UnspecifiedMatching +OMIM:616420 leukodystrophy, hypomyelinating, 10 skos:exactMatch MONDO:0014632 semapv:UnspecifiedMatching +OMIM:616421 myoclonic-atonic epilepsy skos:exactMatch MONDO:0014633 semapv:UnspecifiedMatching +OMIM:616422 TEFM skos:exactMatch hgnc.symbol:26223 semapv:UnspecifiedMatching +OMIM:616422 TEFM skos:exactMatch hgnc.symbol:TEFM semapv:UnspecifiedMatching +OMIM:616422 TEFM skos:exactMatch ncbigene:79736 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch UMLS:C1424502 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:16716 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:DHX30 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch ncbigene:22907 semapv:UnspecifiedMatching +OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:26116 semapv:UnspecifiedMatching +OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:SETD6 semapv:UnspecifiedMatching +OMIM:616424 SETD6 skos:exactMatch ncbigene:79918 semapv:UnspecifiedMatching +OMIM:616425 46,xy sex reversal 10 skos:exactMatch MONDO:0014634 semapv:UnspecifiedMatching +OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:25515 semapv:UnspecifiedMatching +OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:CEP192 semapv:UnspecifiedMatching +OMIM:616426 CEP192 skos:exactMatch ncbigene:55125 semapv:UnspecifiedMatching +OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:28285 semapv:UnspecifiedMatching +OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:AKAIN1 semapv:UnspecifiedMatching +OMIM:616427 AKAIN1 skos:exactMatch ncbigene:642597 semapv:UnspecifiedMatching +OMIM:616428 microphthalmia, isolated, with coloboma 10 skos:exactMatch MONDO:0014635 semapv:UnspecifiedMatching +OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:28391 semapv:UnspecifiedMatching +OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:SUSD3 semapv:UnspecifiedMatching +OMIM:616429 SUSD3 skos:exactMatch ncbigene:203328 semapv:UnspecifiedMatching +OMIM:616430 combined oxidative phosphorylation deficiency 25 skos:exactMatch MONDO:0014636 semapv:UnspecifiedMatching +OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:27168 semapv:UnspecifiedMatching +OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:GPAT2 semapv:UnspecifiedMatching +OMIM:616431 GPAT2 skos:exactMatch ncbigene:150763 semapv:UnspecifiedMatching +OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:17090 semapv:UnspecifiedMatching +OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:ARHGEF18 semapv:UnspecifiedMatching +OMIM:616432 ARHGEF18 skos:exactMatch ncbigene:23370 semapv:UnspecifiedMatching +OMIM:616433 immunodeficiency 40 skos:exactMatch MONDO:0014637 semapv:UnspecifiedMatching +OMIM:616434 IST1 skos:exactMatch UMLS:C3470516 semapv:UnspecifiedMatching +OMIM:616434 IST1 skos:exactMatch hgnc.symbol:28977 semapv:UnspecifiedMatching +OMIM:616434 IST1 skos:exactMatch hgnc.symbol:IST1 semapv:UnspecifiedMatching +OMIM:616434 IST1 skos:exactMatch ncbigene:9798 semapv:UnspecifiedMatching +OMIM:616435 fanconi anemia, complementation group t skos:exactMatch MONDO:0014638 semapv:UnspecifiedMatching +OMIM:616436 epilepsy, familial temporal lobe, 7 skos:exactMatch MONDO:0014639 semapv:UnspecifiedMatching +OMIM:616437 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch MONDO:0014640 semapv:UnspecifiedMatching +OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:20620 semapv:UnspecifiedMatching +OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:TNFAIP8L3 semapv:UnspecifiedMatching +OMIM:616438 TNFAIP8L3 skos:exactMatch ncbigene:388121 semapv:UnspecifiedMatching +OMIM:616439 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch MONDO:0014641 semapv:UnspecifiedMatching +OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:11018 semapv:UnspecifiedMatching +OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:SLC32A1 semapv:UnspecifiedMatching +OMIM:616440 SLC32A1 skos:exactMatch ncbigene:140679 semapv:UnspecifiedMatching +OMIM:616441 OVOL2 skos:exactMatch hgnc.symbol:15804 semapv:UnspecifiedMatching +OMIM:616441 OVOL2 skos:exactMatch hgnc.symbol:OVOL2 semapv:UnspecifiedMatching +OMIM:616441 OVOL2 skos:exactMatch ncbigene:58495 semapv:UnspecifiedMatching +OMIM:616442 OVOL3 skos:exactMatch hgnc.symbol:14186 semapv:UnspecifiedMatching +OMIM:616442 OVOL3 skos:exactMatch hgnc.symbol:OVOL3 semapv:UnspecifiedMatching +OMIM:616442 OVOL3 skos:exactMatch ncbigene:728361 semapv:UnspecifiedMatching +OMIM:616443 ZMYM5 skos:exactMatch hgnc.symbol:13029 semapv:UnspecifiedMatching +OMIM:616443 ZMYM5 skos:exactMatch hgnc.symbol:ZMYM5 semapv:UnspecifiedMatching +OMIM:616443 ZMYM5 skos:exactMatch ncbigene:9205 semapv:UnspecifiedMatching +OMIM:616444 RBM19 skos:exactMatch hgnc.symbol:29098 semapv:UnspecifiedMatching +OMIM:616444 RBM19 skos:exactMatch hgnc.symbol:RBM19 semapv:UnspecifiedMatching +OMIM:616444 RBM19 skos:exactMatch ncbigene:9904 semapv:UnspecifiedMatching +OMIM:616445 candidiasis, familial, 9 skos:exactMatch MONDO:0014642 semapv:UnspecifiedMatching +OMIM:616446 LEXM skos:exactMatch hgnc.symbol:CIMAP2 semapv:UnspecifiedMatching +OMIM:616446 LEXM skos:exactMatch ncbigene:163747 semapv:UnspecifiedMatching +OMIM:616447 VIRMA skos:exactMatch hgnc.symbol:24500 semapv:UnspecifiedMatching +OMIM:616447 VIRMA skos:exactMatch hgnc.symbol:VIRMA semapv:UnspecifiedMatching +OMIM:616447 VIRMA skos:exactMatch ncbigene:25962 semapv:UnspecifiedMatching +OMIM:616448 RAB12 skos:exactMatch hgnc.symbol:31332 semapv:UnspecifiedMatching +OMIM:616448 RAB12 skos:exactMatch hgnc.symbol:RAB12 semapv:UnspecifiedMatching +OMIM:616448 RAB12 skos:exactMatch ncbigene:201475 semapv:UnspecifiedMatching +OMIM:616449 basel-vanagaite-smirin-yosef syndrome skos:exactMatch MONDO:0014643 semapv:UnspecifiedMatching +OMIM:616450 EFHD2 skos:exactMatch hgnc.symbol:28670 semapv:UnspecifiedMatching +OMIM:616450 EFHD2 skos:exactMatch hgnc.symbol:EFHD2 semapv:UnspecifiedMatching +OMIM:616450 EFHD2 skos:exactMatch ncbigene:79180 semapv:UnspecifiedMatching +OMIM:616451 spastic paraplegia 74, autosomal recessive skos:exactMatch MONDO:0014644 semapv:UnspecifiedMatching +OMIM:616452 b-cell expansion with nfkb and t-cell anergy skos:exactMatch MONDO:0014645 semapv:UnspecifiedMatching +OMIM:616453 ZC3H13 skos:exactMatch hgnc.symbol:20368 semapv:UnspecifiedMatching +OMIM:616453 ZC3H13 skos:exactMatch hgnc.symbol:ZC3H13 semapv:UnspecifiedMatching +OMIM:616453 ZC3H13 skos:exactMatch ncbigene:23091 semapv:UnspecifiedMatching +OMIM:616454 ZNF408 skos:exactMatch hgnc.symbol:20041 semapv:UnspecifiedMatching +OMIM:616454 ZNF408 skos:exactMatch hgnc.symbol:ZNF408 semapv:UnspecifiedMatching +OMIM:616454 ZNF408 skos:exactMatch ncbigene:79797 semapv:UnspecifiedMatching +OMIM:616455 zimmermann-laband syndrome 2 skos:exactMatch MONDO:0014646 semapv:UnspecifiedMatching +OMIM:616456 INO80B skos:exactMatch hgnc.symbol:13324 semapv:UnspecifiedMatching +OMIM:616456 INO80B skos:exactMatch hgnc.symbol:INO80B semapv:UnspecifiedMatching +OMIM:616456 INO80B skos:exactMatch ncbigene:83444 semapv:UnspecifiedMatching +OMIM:616457 developmental and epileptic encephalopathy 50 skos:exactMatch MONDO:0014647 semapv:UnspecifiedMatching +OMIM:616457 developmental and epileptic encephalopathy 50 skos:exactMatch Orphanet:448010 semapv:UnspecifiedMatching +OMIM:616457 developmental and epileptic encephalopathy 50 skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching +OMIM:616458 PRDM12 skos:exactMatch hgnc.symbol:13997 semapv:UnspecifiedMatching +OMIM:616458 PRDM12 skos:exactMatch hgnc.symbol:PRDM12 semapv:UnspecifiedMatching +OMIM:616458 PRDM12 skos:exactMatch ncbigene:59335 semapv:UnspecifiedMatching +OMIM:616459 al-raqad syndrome skos:exactMatch MONDO:0014648 semapv:UnspecifiedMatching +OMIM:616460 intellectual developmental disorder, autosomal recessive 50 skos:exactMatch MONDO:0014649 semapv:UnspecifiedMatching +OMIM:616461 epilepsy, familial temporal lobe, 8 skos:exactMatch MONDO:0014650 semapv:UnspecifiedMatching +OMIM:616462 acrofacial dysostosis, cincinnati iia skos:exactMatch MONDO:0014651 semapv:UnspecifiedMatching +OMIM:616463 ZNF232 skos:exactMatch hgnc.symbol:13026 semapv:UnspecifiedMatching +OMIM:616463 ZNF232 skos:exactMatch hgnc.symbol:ZNF232 semapv:UnspecifiedMatching +OMIM:616463 ZNF232 skos:exactMatch ncbigene:7775 semapv:UnspecifiedMatching +OMIM:616464 ECD skos:exactMatch UMLS:C1825023 semapv:UnspecifiedMatching +OMIM:616464 ECD skos:exactMatch hgnc.symbol:17029 semapv:UnspecifiedMatching +OMIM:616464 ECD skos:exactMatch hgnc.symbol:ECD semapv:UnspecifiedMatching +OMIM:616464 ECD skos:exactMatch ncbigene:11319 semapv:UnspecifiedMatching +OMIM:616465 VPS50 skos:exactMatch hgnc.symbol:25956 semapv:UnspecifiedMatching +OMIM:616465 VPS50 skos:exactMatch hgnc.symbol:VPS50 semapv:UnspecifiedMatching +OMIM:616465 VPS50 skos:exactMatch ncbigene:55610 semapv:UnspecifiedMatching +OMIM:616466 UNC5D skos:exactMatch hgnc.symbol:18634 semapv:UnspecifiedMatching +OMIM:616466 UNC5D skos:exactMatch hgnc.symbol:UNC5D semapv:UnspecifiedMatching +OMIM:616466 UNC5D skos:exactMatch ncbigene:137970 semapv:UnspecifiedMatching +OMIM:616467 DPCD skos:exactMatch hgnc.symbol:24542 semapv:UnspecifiedMatching +OMIM:616467 DPCD skos:exactMatch hgnc.symbol:DPCD semapv:UnspecifiedMatching +OMIM:616467 DPCD skos:exactMatch ncbigene:25911 semapv:UnspecifiedMatching +OMIM:616468 exudative vitreoretinopathy 6 skos:exactMatch MONDO:0014652 semapv:UnspecifiedMatching +OMIM:616469 retinitis pigmentosa 72 skos:exactMatch MONDO:0014653 semapv:UnspecifiedMatching +OMIM:616470 ullrich congenital muscular dystrophy 2 skos:exactMatch MONDO:0014654 semapv:UnspecifiedMatching +OMIM:616471 bethlem myopathy 2 skos:exactMatch MONDO:0034022 semapv:UnspecifiedMatching +OMIM:616471 bethlem myopathy 2 skos:exactMatch Orphanet:610 semapv:UnspecifiedMatching +OMIM:616471 bethlem myopathy 2 skos:exactMatch UMLS:C4225313 semapv:UnspecifiedMatching +OMIM:616472 UBAP2L skos:exactMatch hgnc.symbol:29877 semapv:UnspecifiedMatching +OMIM:616472 UBAP2L skos:exactMatch hgnc.symbol:UBAP2L semapv:UnspecifiedMatching +OMIM:616472 UBAP2L skos:exactMatch ncbigene:9898 semapv:UnspecifiedMatching +OMIM:616473 MIR558 skos:exactMatch hgnc.symbol:32814 semapv:UnspecifiedMatching +OMIM:616473 MIR558 skos:exactMatch hgnc.symbol:MIR558 semapv:UnspecifiedMatching +OMIM:616473 MIR558 skos:exactMatch ncbigene:693143 semapv:UnspecifiedMatching +OMIM:616474 ZSCAN26 skos:exactMatch hgnc.symbol:12978 semapv:UnspecifiedMatching +OMIM:616474 ZSCAN26 skos:exactMatch hgnc.symbol:ZSCAN26 semapv:UnspecifiedMatching +OMIM:616474 ZSCAN26 skos:exactMatch ncbigene:7741 semapv:UnspecifiedMatching +OMIM:616475 CEP72 skos:exactMatch hgnc.symbol:25547 semapv:UnspecifiedMatching +OMIM:616475 CEP72 skos:exactMatch hgnc.symbol:CEP72 semapv:UnspecifiedMatching +OMIM:616475 CEP72 skos:exactMatch ncbigene:55722 semapv:UnspecifiedMatching +OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:25892 semapv:UnspecifiedMatching +OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:AGBL4 semapv:UnspecifiedMatching +OMIM:616476 AGBL4 skos:exactMatch ncbigene:84871 semapv:UnspecifiedMatching +OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:19692 semapv:UnspecifiedMatching +OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:NRBF2 semapv:UnspecifiedMatching +OMIM:616477 NRBF2 skos:exactMatch ncbigene:29982 semapv:UnspecifiedMatching +OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:21964 semapv:UnspecifiedMatching +OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:LRGUK semapv:UnspecifiedMatching +OMIM:616478 LRGUK skos:exactMatch ncbigene:136332 semapv:UnspecifiedMatching +OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:exactMatch MONDO:0014656 semapv:UnspecifiedMatching +OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:29248 semapv:UnspecifiedMatching +OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:KIAA1328 semapv:UnspecifiedMatching +OMIM:616480 KIAA1328 skos:exactMatch ncbigene:57536 semapv:UnspecifiedMatching +OMIM:616481 ciliary dyskinesia, primary, 32 skos:exactMatch MONDO:0014657 semapv:UnspecifiedMatching +OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans skos:exactMatch MONDO:0014658 semapv:UnspecifiedMatching +OMIM:616483 infantile liver failure syndrome 2 skos:exactMatch MONDO:0014659 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C1539930 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:30684 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:TAX1BP3 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch ncbigene:30851 semapv:UnspecifiedMatching +OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:13083 semapv:UnspecifiedMatching +OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:ZBTB21 semapv:UnspecifiedMatching +OMIM:616485 ZBTB21 skos:exactMatch ncbigene:49854 semapv:UnspecifiedMatching +OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch MONDO:0014660 semapv:UnspecifiedMatching +OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching +OMIM:616487 epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive skos:exactMatch MONDO:0014661 semapv:UnspecifiedMatching +OMIM:616488 neuropathy, hereditary sensory and autonomic, iia 8 skos:exactMatch MONDO:0014662 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch MONDO:0014663 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching +OMIM:616490 joubert syndrome 23 skos:exactMatch MONDO:0014664 semapv:UnspecifiedMatching +OMIM:616491 charcot-marie-tooth disease, axonal, iia 2v skos:exactMatch MONDO:0014665 semapv:UnspecifiedMatching +OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:26596 semapv:UnspecifiedMatching +OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:EWSAT1 semapv:UnspecifiedMatching +OMIM:616492 EWSAT1 skos:exactMatch ncbigene:283673 semapv:UnspecifiedMatching +OMIM:616493 TASOR skos:exactMatch hgnc.symbol:30314 semapv:UnspecifiedMatching +OMIM:616493 TASOR skos:exactMatch hgnc.symbol:TASOR semapv:UnspecifiedMatching +OMIM:616493 TASOR skos:exactMatch ncbigene:23272 semapv:UnspecifiedMatching +OMIM:616494 leukodystrophy, hypomyelinating, 11 skos:exactMatch MONDO:0014666 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C1538932 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:24048 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:ARL6IP6 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch ncbigene:151188 semapv:UnspecifiedMatching +OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:29001 semapv:UnspecifiedMatching +OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:NEMP1 semapv:UnspecifiedMatching +OMIM:616496 NEMP1 skos:exactMatch ncbigene:23306 semapv:UnspecifiedMatching +OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:33700 semapv:UnspecifiedMatching +OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:NEMP2 semapv:UnspecifiedMatching +OMIM:616497 NEMP2 skos:exactMatch ncbigene:100131211 semapv:UnspecifiedMatching +OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:27258 semapv:UnspecifiedMatching +OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:RETREG3 semapv:UnspecifiedMatching +OMIM:616498 RETREG3 skos:exactMatch ncbigene:162427 semapv:UnspecifiedMatching +OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:28217 semapv:UnspecifiedMatching +OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:TMEM203 semapv:UnspecifiedMatching +OMIM:616499 TMEM203 skos:exactMatch ncbigene:94107 semapv:UnspecifiedMatching +OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch MONDO:0014667 semapv:UnspecifiedMatching +OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching +OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching +OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch MONDO:0014668 semapv:UnspecifiedMatching +OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching +OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching +OMIM:616502 cone-rod dystrophy 21 skos:exactMatch MONDO:0014669 semapv:UnspecifiedMatching +OMIM:616503 lethal congenital contracture syndrome 9 skos:exactMatch MONDO:0014670 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch UMLS:C2681660 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:29330 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:METTL14 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch ncbigene:57721 semapv:UnspecifiedMatching +OMIM:616505 neuropathy, hereditary motor and sensory, iia vib, with optic atrophy skos:exactMatch MONDO:0014671 semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch UMLS:C3472710 semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch hgnc.symbol:26256 semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch hgnc.symbol:NDNF semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch ncbigene:79625 semapv:UnspecifiedMatching +OMIM:616507 osteogenesis imperfecta, iia 17 skos:exactMatch MONDO:0014672 semapv:UnspecifiedMatching +OMIM:616508 SLC39A11 skos:exactMatch hgnc.symbol:14463 semapv:UnspecifiedMatching +OMIM:616508 SLC39A11 skos:exactMatch hgnc.symbol:SLC39A11 semapv:UnspecifiedMatching +OMIM:616508 SLC39A11 skos:exactMatch ncbigene:201266 semapv:UnspecifiedMatching +OMIM:616509 cataract 44 skos:exactMatch MONDO:0014673 semapv:UnspecifiedMatching +OMIM:616510 GNPNAT1 skos:exactMatch hgnc.symbol:19980 semapv:UnspecifiedMatching +OMIM:616510 GNPNAT1 skos:exactMatch hgnc.symbol:GNPNAT1 semapv:UnspecifiedMatching +OMIM:616510 GNPNAT1 skos:exactMatch ncbigene:64841 semapv:UnspecifiedMatching +OMIM:616511 maturity-onset diabetes of the young, iia 14 skos:exactMatch MONDO:0014674 semapv:UnspecifiedMatching +OMIM:616512 RNF152 skos:exactMatch hgnc.symbol:26811 semapv:UnspecifiedMatching +OMIM:616512 RNF152 skos:exactMatch hgnc.symbol:RNF152 semapv:UnspecifiedMatching +OMIM:616512 RNF152 skos:exactMatch ncbigene:220441 semapv:UnspecifiedMatching +OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:28987 semapv:UnspecifiedMatching +OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:LARP4B semapv:UnspecifiedMatching +OMIM:616513 LARP4B skos:exactMatch ncbigene:23185 semapv:UnspecifiedMatching +OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:28007 semapv:UnspecifiedMatching +OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:MCRIP1 semapv:UnspecifiedMatching +OMIM:616514 FAM195B skos:exactMatch ncbigene:348262 semapv:UnspecifiedMatching +OMIM:616515 deafness, autosomal recessive 104 skos:exactMatch MONDO:0014675 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch MONDO:0014676 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching +OMIM:616517 achromatopsia 7 skos:exactMatch MONDO:0014677 semapv:UnspecifiedMatching +OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:19863 semapv:UnspecifiedMatching +OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:SLC38A6 semapv:UnspecifiedMatching +OMIM:616518 SLC38A6 skos:exactMatch ncbigene:145389 semapv:UnspecifiedMatching +OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:25386 semapv:UnspecifiedMatching +OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:PDE12 semapv:UnspecifiedMatching +OMIM:616519 PDE12 skos:exactMatch ncbigene:201626 semapv:UnspecifiedMatching +OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:22204 semapv:UnspecifiedMatching +OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:AHCYL2 semapv:UnspecifiedMatching +OMIM:616520 AHCYL2 skos:exactMatch ncbigene:23382 semapv:UnspecifiedMatching +OMIM:616521 intellectual developmental disorder, autosomal dominant 39 skos:exactMatch MONDO:0014678 semapv:UnspecifiedMatching +OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:28409 semapv:UnspecifiedMatching +OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:DCUN1D5 semapv:UnspecifiedMatching +OMIM:616522 DCUN1D5 skos:exactMatch ncbigene:84259 semapv:UnspecifiedMatching +OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:29083 semapv:UnspecifiedMatching +OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:MFAP3L semapv:UnspecifiedMatching +OMIM:616523 MFAP3L skos:exactMatch ncbigene:9848 semapv:UnspecifiedMatching +OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:22058 semapv:UnspecifiedMatching +OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:TMEM139 semapv:UnspecifiedMatching +OMIM:616524 TMEM139 skos:exactMatch ncbigene:135932 semapv:UnspecifiedMatching +OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:28237 semapv:UnspecifiedMatching +OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:SLC38A10 semapv:UnspecifiedMatching +OMIM:616525 SLC38A10 skos:exactMatch ncbigene:124565 semapv:UnspecifiedMatching +OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:26836 semapv:UnspecifiedMatching +OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:SLC38A11 semapv:UnspecifiedMatching +OMIM:616526 SLC38A11 skos:exactMatch ncbigene:151258 semapv:UnspecifiedMatching +OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:29574 semapv:UnspecifiedMatching +OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:SFR1 semapv:UnspecifiedMatching +OMIM:616527 SFR1 skos:exactMatch ncbigene:119392 semapv:UnspecifiedMatching +OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:31412 semapv:UnspecifiedMatching +OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:SWI5 semapv:UnspecifiedMatching +OMIM:616528 SWI5 skos:exactMatch ncbigene:375757 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch UMLS:C1538132 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:15867 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:YTHDF1 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch ncbigene:54915 semapv:UnspecifiedMatching +OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:24721 semapv:UnspecifiedMatching +OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:YTHDC2 semapv:UnspecifiedMatching +OMIM:616530 YTHDC2 skos:exactMatch ncbigene:64848 semapv:UnspecifiedMatching +OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities skos:exactMatch MONDO:0014679 semapv:UnspecifiedMatching +OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 skos:exactMatch MONDO:0014680 semapv:UnspecifiedMatching +OMIM:616533 DDX31 skos:exactMatch UMLS:C1424501 semapv:UnspecifiedMatching +OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:16715 semapv:UnspecifiedMatching +OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:DDX31 semapv:UnspecifiedMatching +OMIM:616533 DDX31 skos:exactMatch ncbigene:64794 semapv:UnspecifiedMatching +OMIM:616534 thyroid cancer, nonmedullary, 4 skos:exactMatch MONDO:0014681 semapv:UnspecifiedMatching +OMIM:616535 thyroid cancer, nonmedullary, 5 skos:exactMatch MONDO:0014682 semapv:UnspecifiedMatching +OMIM:616536 CST9L skos:exactMatch hgnc.symbol:16233 semapv:UnspecifiedMatching +OMIM:616536 CST9L skos:exactMatch hgnc.symbol:CST9L semapv:UnspecifiedMatching +OMIM:616536 CST9L skos:exactMatch ncbigene:128821 semapv:UnspecifiedMatching +OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:16096 semapv:UnspecifiedMatching +OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:VSTM2L semapv:UnspecifiedMatching +OMIM:616537 VSTM2L skos:exactMatch ncbigene:128434 semapv:UnspecifiedMatching +OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 skos:exactMatch MONDO:0014683 semapv:UnspecifiedMatching +OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay skos:exactMatch MONDO:0014684 semapv:UnspecifiedMatching +OMIM:616540 epilepsy, progressive myoclonic, 9 skos:exactMatch MONDO:0014685 semapv:UnspecifiedMatching +OMIM:616541 short stature, microcephaly, and endocrine dysfunction skos:exactMatch MONDO:0014686 semapv:UnspecifiedMatching +OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:20374 semapv:UnspecifiedMatching +OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:GSX1 semapv:UnspecifiedMatching +OMIM:616542 GSX1 skos:exactMatch ncbigene:219409 semapv:UnspecifiedMatching +OMIM:616543 CST9 skos:exactMatch hgnc.symbol:13261 semapv:UnspecifiedMatching +OMIM:616543 CST9 skos:exactMatch hgnc.symbol:CST9 semapv:UnspecifiedMatching +OMIM:616543 CST9 skos:exactMatch ncbigene:128822 semapv:UnspecifiedMatching +OMIM:616544 retinitis pigmentosa 73 skos:exactMatch MONDO:0014687 semapv:UnspecifiedMatching +OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:24639 semapv:UnspecifiedMatching +OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:PRELID3A semapv:UnspecifiedMatching +OMIM:616545 PRELID3A skos:exactMatch ncbigene:10650 semapv:UnspecifiedMatching +OMIM:616546 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch MONDO:0014688 semapv:UnspecifiedMatching +OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:29615 semapv:UnspecifiedMatching +OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:LYG2 semapv:UnspecifiedMatching +OMIM:616547 LYG2 skos:exactMatch ncbigene:254773 semapv:UnspecifiedMatching +OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:20440 semapv:UnspecifiedMatching +OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:LYPLAL1 semapv:UnspecifiedMatching +OMIM:616548 LYPLAL1 skos:exactMatch ncbigene:127018 semapv:UnspecifiedMatching +OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism skos:exactMatch MONDO:0014689 semapv:UnspecifiedMatching +OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:21697 semapv:UnspecifiedMatching +OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:TMEM120A semapv:UnspecifiedMatching +OMIM:616550 TMEM120A skos:exactMatch ncbigene:83862 semapv:UnspecifiedMatching +OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:32008 semapv:UnspecifiedMatching +OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:TMEM120B semapv:UnspecifiedMatching +OMIM:616551 TMEM120B skos:exactMatch ncbigene:144404 semapv:UnspecifiedMatching +OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:23435 semapv:UnspecifiedMatching +OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:CARNMT1 semapv:UnspecifiedMatching +OMIM:616552 CARNMT1 skos:exactMatch ncbigene:138199 semapv:UnspecifiedMatching +OMIM:616553 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch MONDO:0014690 semapv:UnspecifiedMatching +OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:26620 semapv:UnspecifiedMatching +OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:SPAG17 semapv:UnspecifiedMatching +OMIM:616554 SPAG17 skos:exactMatch ncbigene:200162 semapv:UnspecifiedMatching +OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:29069 semapv:UnspecifiedMatching +OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:LRRC37A semapv:UnspecifiedMatching +OMIM:616555 LRRC37A skos:exactMatch ncbigene:9884 semapv:UnspecifiedMatching +OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:32404 semapv:UnspecifiedMatching +OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:LRRC37A2 semapv:UnspecifiedMatching +OMIM:616556 LRRC37A2 skos:exactMatch ncbigene:474170 semapv:UnspecifiedMatching +OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:32427 semapv:UnspecifiedMatching +OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:LRRC37A3 semapv:UnspecifiedMatching +OMIM:616557 LRRC37A3 skos:exactMatch ncbigene:374819 semapv:UnspecifiedMatching +OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:29070 semapv:UnspecifiedMatching +OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:LRRC37B semapv:UnspecifiedMatching +OMIM:616558 LRRC37B skos:exactMatch ncbigene:114659 semapv:UnspecifiedMatching +OMIM:616559 noonan syndrome 9 skos:exactMatch MONDO:0014691 semapv:UnspecifiedMatching +OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:52292 semapv:UnspecifiedMatching +OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:CD300H semapv:UnspecifiedMatching +OMIM:616560 cd300h antigen skos:exactMatch ncbigene:100130520 semapv:UnspecifiedMatching +OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:26129 semapv:UnspecifiedMatching +OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:RASAL3 semapv:UnspecifiedMatching +OMIM:616561 RASAL3 skos:exactMatch ncbigene:64926 semapv:UnspecifiedMatching +OMIM:616562 retinitis pigmentosa 74 skos:exactMatch MONDO:0014692 semapv:UnspecifiedMatching +OMIM:616563 SLK skos:exactMatch hgnc.symbol:11088 semapv:UnspecifiedMatching +OMIM:616563 SLK skos:exactMatch hgnc.symbol:SLK semapv:UnspecifiedMatching +OMIM:616563 SLK skos:exactMatch ncbigene:9748 semapv:UnspecifiedMatching +OMIM:616564 noonan syndrome 10 skos:exactMatch MONDO:0014693 semapv:UnspecifiedMatching +OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:24165 semapv:UnspecifiedMatching +OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:ANKRD30B semapv:UnspecifiedMatching +OMIM:616565 ANKRD30B skos:exactMatch ncbigene:374860 semapv:UnspecifiedMatching +OMIM:616566 spondylocostal dysostosis 6, autosomal recessive skos:exactMatch MONDO:0014694 semapv:UnspecifiedMatching +OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:2675 semapv:UnspecifiedMatching +OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:DAPK2 semapv:UnspecifiedMatching +OMIM:616567 DAPK2 skos:exactMatch ncbigene:23604 semapv:UnspecifiedMatching +OMIM:616569 CSAD skos:exactMatch hgnc.symbol:18966 semapv:UnspecifiedMatching +OMIM:616569 CSAD skos:exactMatch hgnc.symbol:CSAD semapv:UnspecifiedMatching +OMIM:616569 CSAD skos:exactMatch ncbigene:51380 semapv:UnspecifiedMatching +OMIM:616570 cerebrooculofacioskeletal syndrome 3 skos:exactMatch MONDO:0014696 semapv:UnspecifiedMatching +OMIM:616571 CLEC18A skos:exactMatch hgnc.symbol:30388 semapv:UnspecifiedMatching +OMIM:616571 CLEC18A skos:exactMatch hgnc.symbol:CLEC18A semapv:UnspecifiedMatching +OMIM:616571 CLEC18A skos:exactMatch ncbigene:348174 semapv:UnspecifiedMatching +OMIM:616572 CLEC18B skos:exactMatch hgnc.symbol:33849 semapv:UnspecifiedMatching +OMIM:616572 CLEC18B skos:exactMatch hgnc.symbol:CLEC18B semapv:UnspecifiedMatching +OMIM:616572 CLEC18B skos:exactMatch ncbigene:497190 semapv:UnspecifiedMatching +OMIM:616573 CLEC18C skos:exactMatch hgnc.symbol:28538 semapv:UnspecifiedMatching +OMIM:616573 CLEC18C skos:exactMatch hgnc.symbol:CLEC18C semapv:UnspecifiedMatching +OMIM:616573 CLEC18C skos:exactMatch ncbigene:283971 semapv:UnspecifiedMatching +OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:32068 semapv:UnspecifiedMatching +OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:MICOS10 semapv:UnspecifiedMatching +OMIM:616574 MICOS10 skos:exactMatch ncbigene:440574 semapv:UnspecifiedMatching +OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:15500 semapv:UnspecifiedMatching +OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:LENG8 semapv:UnspecifiedMatching +OMIM:616575 LENG8 skos:exactMatch ncbigene:114823 semapv:UnspecifiedMatching +OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch MONDO:0014697 semapv:UnspecifiedMatching +OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching +OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch MONDO:0014698 semapv:UnspecifiedMatching +OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch Orphanet:457351 semapv:UnspecifiedMatching +OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch UMLS:C4225276 semapv:UnspecifiedMatching +OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:20259 semapv:UnspecifiedMatching +OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:ZBTB1 semapv:UnspecifiedMatching +OMIM:616578 ZBTB1 skos:exactMatch ncbigene:22890 semapv:UnspecifiedMatching +OMIM:616579 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features skos:exactMatch MONDO:0014699 semapv:UnspecifiedMatching +OMIM:616580 au-kline syndrome skos:exactMatch MONDO:0014700 semapv:UnspecifiedMatching +OMIM:616581 KDM4E skos:exactMatch hgnc.symbol:37098 semapv:UnspecifiedMatching +OMIM:616581 KDM4E skos:exactMatch hgnc.symbol:KDM4E semapv:UnspecifiedMatching +OMIM:616581 KDM4E skos:exactMatch ncbigene:390245 semapv:UnspecifiedMatching +OMIM:616582 LSR skos:exactMatch hgnc.symbol:29572 semapv:UnspecifiedMatching +OMIM:616582 LSR skos:exactMatch hgnc.symbol:LSR semapv:UnspecifiedMatching +OMIM:616582 LSR skos:exactMatch ncbigene:51599 semapv:UnspecifiedMatching +OMIM:616583 spondyloepiphyseal dysplasia, stanescu iia skos:exactMatch MONDO:0014701 semapv:UnspecifiedMatching +OMIM:616584 SPATA31A7 skos:exactMatch hgnc.symbol:32007 semapv:UnspecifiedMatching +OMIM:616584 SPATA31A7 skos:exactMatch hgnc.symbol:SPATA31A7 semapv:UnspecifiedMatching +OMIM:616584 SPATA31A7 skos:exactMatch ncbigene:26165 semapv:UnspecifiedMatching +OMIM:616585 RSPRY1 skos:exactMatch hgnc.symbol:29420 semapv:UnspecifiedMatching +OMIM:616585 RSPRY1 skos:exactMatch hgnc.symbol:RSPRY1 semapv:UnspecifiedMatching +OMIM:616585 RSPRY1 skos:exactMatch ncbigene:89970 semapv:UnspecifiedMatching +OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch MONDO:0014702 semapv:UnspecifiedMatching +OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch Orphanet:447760 semapv:UnspecifiedMatching +OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch UMLS:C4225272 semapv:UnspecifiedMatching +OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:26110 semapv:UnspecifiedMatching +OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:FAM118B semapv:UnspecifiedMatching +OMIM:616587 FAM118B skos:exactMatch ncbigene:79607 semapv:UnspecifiedMatching +OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:27309 semapv:UnspecifiedMatching +OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:DHFR2 semapv:UnspecifiedMatching +OMIM:616588 DHFRL1 skos:exactMatch ncbigene:200895 semapv:UnspecifiedMatching +OMIM:616589 adams-oliver syndrome 6 skos:exactMatch MONDO:0014703 semapv:UnspecifiedMatching +OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:23836 semapv:UnspecifiedMatching +OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:ZBTB5 semapv:UnspecifiedMatching +OMIM:616590 ZBTB5 skos:exactMatch ncbigene:9925 semapv:UnspecifiedMatching +OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:31700 semapv:UnspecifiedMatching +OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:ZBTB7C semapv:UnspecifiedMatching +OMIM:616591 ZBTB7C skos:exactMatch ncbigene:201501 semapv:UnspecifiedMatching +OMIM:616592 kosaki overgrowth syndrome skos:exactMatch MONDO:0014704 semapv:UnspecifiedMatching +OMIM:616592 kosaki overgrowth syndrome skos:exactMatch Orphanet:477831 semapv:UnspecifiedMatching +OMIM:616592 kosaki overgrowth syndrome skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching +OMIM:616593 C1QTNF12 skos:exactMatch UMLS:C1823201 semapv:UnspecifiedMatching +OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:32308 semapv:UnspecifiedMatching +OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:C1QTNF12 semapv:UnspecifiedMatching +OMIM:616593 C1QTNF12 skos:exactMatch ncbigene:388581 semapv:UnspecifiedMatching +OMIM:616594 ASAP3 skos:exactMatch hgnc.symbol:14987 semapv:UnspecifiedMatching +OMIM:616594 ASAP3 skos:exactMatch hgnc.symbol:ASAP3 semapv:UnspecifiedMatching +OMIM:616594 ASAP3 skos:exactMatch ncbigene:55616 semapv:UnspecifiedMatching +OMIM:616595 ZBTB2 skos:exactMatch hgnc.symbol:20868 semapv:UnspecifiedMatching +OMIM:616595 ZBTB2 skos:exactMatch hgnc.symbol:ZBTB2 semapv:UnspecifiedMatching +OMIM:616595 ZBTB2 skos:exactMatch ncbigene:57621 semapv:UnspecifiedMatching +OMIM:616596 ARL8B skos:exactMatch UMLS:C1824210 semapv:UnspecifiedMatching +OMIM:616596 ARL8B skos:exactMatch hgnc.symbol:25564 semapv:UnspecifiedMatching +OMIM:616596 ARL8B skos:exactMatch hgnc.symbol:ARL8B semapv:UnspecifiedMatching +OMIM:616596 ARL8B skos:exactMatch ncbigene:55207 semapv:UnspecifiedMatching +OMIM:616597 ARL8A skos:exactMatch UMLS:C1824209 semapv:UnspecifiedMatching +OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:25192 semapv:UnspecifiedMatching +OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:ARL8A semapv:UnspecifiedMatching +OMIM:616597 ARL8A skos:exactMatch ncbigene:127829 semapv:UnspecifiedMatching +OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:17950 semapv:UnspecifiedMatching +OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:BORCS5 semapv:UnspecifiedMatching +OMIM:616598 BORCS5 skos:exactMatch ncbigene:118426 semapv:UnspecifiedMatching +OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:25939 semapv:UnspecifiedMatching +OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:BORCS6 semapv:UnspecifiedMatching +OMIM:616599 BORCS6 skos:exactMatch ncbigene:54785 semapv:UnspecifiedMatching +OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:23516 semapv:UnspecifiedMatching +OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:BORCS7 semapv:UnspecifiedMatching +OMIM:616600 BORCS7 skos:exactMatch ncbigene:119032 semapv:UnspecifiedMatching +OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:37247 semapv:UnspecifiedMatching +OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:BORCS8 semapv:UnspecifiedMatching +OMIM:616601 BORCS8 skos:exactMatch ncbigene:729991 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch MONDO:0014705 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:35098 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:63440 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching +OMIM:616603 cutis laxa, autosomal dominant 3 skos:exactMatch MONDO:0014706 semapv:UnspecifiedMatching +OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb skos:exactMatch MONDO:0014707 semapv:UnspecifiedMatching +OMIM:616605 GSKIP skos:exactMatch hgnc.symbol:20343 semapv:UnspecifiedMatching +OMIM:616605 GSKIP skos:exactMatch hgnc.symbol:GSKIP semapv:UnspecifiedMatching +OMIM:616605 GSKIP skos:exactMatch ncbigene:51527 semapv:UnspecifiedMatching +OMIM:616606 ring chromosome 14 syndrome skos:exactMatch MONDO:0014708 semapv:UnspecifiedMatching +OMIM:616607 KBTBD8 skos:exactMatch hgnc.symbol:30691 semapv:UnspecifiedMatching +OMIM:616607 KBTBD8 skos:exactMatch hgnc.symbol:KBTBD8 semapv:UnspecifiedMatching +OMIM:616607 KBTBD8 skos:exactMatch ncbigene:84541 semapv:UnspecifiedMatching +OMIM:616608 MACIR skos:exactMatch hgnc.symbol:25052 semapv:UnspecifiedMatching +OMIM:616608 MACIR skos:exactMatch hgnc.symbol:MACIR semapv:UnspecifiedMatching +OMIM:616608 MACIR skos:exactMatch ncbigene:90355 semapv:UnspecifiedMatching +OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:25203 semapv:UnspecifiedMatching +OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:TMEM65 semapv:UnspecifiedMatching +OMIM:616609 TMEM65 skos:exactMatch ncbigene:157378 semapv:UnspecifiedMatching +OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:28245 semapv:UnspecifiedMatching +OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:CASC15 semapv:UnspecifiedMatching +OMIM:616610 CASC15 skos:exactMatch ncbigene:401237 semapv:UnspecifiedMatching +OMIM:616611 LINC00461 skos:exactMatch hgnc.symbol:MIR9-2HG semapv:UnspecifiedMatching +OMIM:616611 LINC00461 skos:exactMatch ncbigene:645323 semapv:UnspecifiedMatching +OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:38501 semapv:UnspecifiedMatching +OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:COL6A4P2 semapv:UnspecifiedMatching +OMIM:616612 COL6A4P2 skos:exactMatch ncbigene:646300 semapv:UnspecifiedMatching +OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:27023 semapv:UnspecifiedMatching +OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:COL6A6 semapv:UnspecifiedMatching +OMIM:616613 COL6A6 skos:exactMatch ncbigene:131873 semapv:UnspecifiedMatching +OMIM:616614 HPF1 skos:exactMatch UMLS:C1824170 semapv:UnspecifiedMatching +OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:26051 semapv:UnspecifiedMatching +OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:HPF1 semapv:UnspecifiedMatching +OMIM:616614 HPF1 skos:exactMatch ncbigene:54969 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C2239313 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:24290 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:CSGALNACT1 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch ncbigene:55790 semapv:UnspecifiedMatching +OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:24292 semapv:UnspecifiedMatching +OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:CSGALNACT2 semapv:UnspecifiedMatching +OMIM:616616 CSGALNACT2 skos:exactMatch ncbigene:55454 semapv:UnspecifiedMatching +OMIM:616617 heimler syndrome 2 skos:exactMatch MONDO:0014709 semapv:UnspecifiedMatching +OMIM:616617 heimler syndrome 2 skos:exactMatch Orphanet:3220 semapv:UnspecifiedMatching +OMIM:616617 heimler syndrome 2 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch UMLS:C1428043 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:23338 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:ACBD5 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch ncbigene:91452 semapv:UnspecifiedMatching +OMIM:616619 DUBR skos:exactMatch hgnc.symbol:48569 semapv:UnspecifiedMatching +OMIM:616619 DUBR skos:exactMatch hgnc.symbol:DUBR semapv:UnspecifiedMatching +OMIM:616619 DUBR skos:exactMatch ncbigene:344595 semapv:UnspecifiedMatching +OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:14098 semapv:UnspecifiedMatching +OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:WDR12 semapv:UnspecifiedMatching +OMIM:616620 WDR12 skos:exactMatch ncbigene:55759 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch UMLS:C1423765 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:15837 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:DDX27 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch ncbigene:55661 semapv:UnspecifiedMatching +OMIM:616622 immunodeficiency 42 skos:exactMatch MONDO:0014710 semapv:UnspecifiedMatching +OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:19955 semapv:UnspecifiedMatching +OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:FAM30A semapv:UnspecifiedMatching +OMIM:616623 FAM30A skos:exactMatch ncbigene:9834 semapv:UnspecifiedMatching +OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:24612 semapv:UnspecifiedMatching +OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:NCBP3 semapv:UnspecifiedMatching +OMIM:616624 NCBP3 skos:exactMatch ncbigene:55421 semapv:UnspecifiedMatching +OMIM:616625 charcot-marie-tooth disease, axonal, iia 2w skos:exactMatch MONDO:0014711 semapv:UnspecifiedMatching +OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:23723 semapv:UnspecifiedMatching +OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:CERCAM semapv:UnspecifiedMatching +OMIM:616626 CERCAM skos:exactMatch ncbigene:51148 semapv:UnspecifiedMatching +OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:17936 semapv:UnspecifiedMatching +OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:PODXL2 semapv:UnspecifiedMatching +OMIM:616627 PODXL2 skos:exactMatch ncbigene:50512 semapv:UnspecifiedMatching +OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:22422 semapv:UnspecifiedMatching +OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:FAM220A semapv:UnspecifiedMatching +OMIM:616628 FAM220A skos:exactMatch ncbigene:84792 semapv:UnspecifiedMatching +OMIM:616629 senior-loken syndrome 9 skos:exactMatch MONDO:0014712 semapv:UnspecifiedMatching +OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:17881 semapv:UnspecifiedMatching +OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:NRSN1 semapv:UnspecifiedMatching +OMIM:616630 NRSN1 skos:exactMatch ncbigene:140767 semapv:UnspecifiedMatching +OMIM:616631 porokeratosis 9, multiple types skos:exactMatch MONDO:0014713 semapv:UnspecifiedMatching +OMIM:616632 seizures, cortical blindness, and microcephaly syndrome skos:exactMatch MONDO:0014714 semapv:UnspecifiedMatching +OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:29217 semapv:UnspecifiedMatching +OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:PRR12 semapv:UnspecifiedMatching +OMIM:616633 PRR12 skos:exactMatch ncbigene:57479 semapv:UnspecifiedMatching +OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:24696 semapv:UnspecifiedMatching +OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:SNED1 semapv:UnspecifiedMatching +OMIM:616634 SNED1 skos:exactMatch ncbigene:25992 semapv:UnspecifiedMatching +OMIM:616635 CYHR1 skos:exactMatch hgnc.symbol:ZFTRAF1 semapv:UnspecifiedMatching +OMIM:616635 CYHR1 skos:exactMatch ncbigene:50626 semapv:UnspecifiedMatching +OMIM:616636 immunodeficiency 44 skos:exactMatch MONDO:0014715 semapv:UnspecifiedMatching +OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:28356 semapv:UnspecifiedMatching +OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:TBC1D16 semapv:UnspecifiedMatching +OMIM:616637 TBC1D16 skos:exactMatch ncbigene:125058 semapv:UnspecifiedMatching +OMIM:616638 smith-kingsmore syndrome skos:exactMatch MONDO:0014716 semapv:UnspecifiedMatching +OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:13993 semapv:UnspecifiedMatching +OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:PRDM8 semapv:UnspecifiedMatching +OMIM:616639 PRDM8 skos:exactMatch ncbigene:56978 semapv:UnspecifiedMatching +OMIM:616640 epilepsy, progressive myoclonic, 10 skos:exactMatch MONDO:0014717 semapv:UnspecifiedMatching +OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:21159 semapv:UnspecifiedMatching +OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:RNF141 semapv:UnspecifiedMatching +OMIM:616641 RNF141 skos:exactMatch ncbigene:50862 semapv:UnspecifiedMatching +OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:21114 semapv:UnspecifiedMatching +OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:C6orf89 semapv:UnspecifiedMatching +OMIM:616642 C6ORF89 skos:exactMatch ncbigene:221477 semapv:UnspecifiedMatching +OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:24937 semapv:UnspecifiedMatching +OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:HDGFL3 semapv:UnspecifiedMatching +OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch ncbigene:50810 semapv:UnspecifiedMatching +OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:17937 semapv:UnspecifiedMatching +OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:CUZD1 semapv:UnspecifiedMatching +OMIM:616644 CUZD1 skos:exactMatch ncbigene:50624 semapv:UnspecifiedMatching +OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch MONDO:0014718 semapv:UnspecifiedMatching +OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching +OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:30839 semapv:UnspecifiedMatching +OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:KRT25 semapv:UnspecifiedMatching +OMIM:616646 KRT25 skos:exactMatch ncbigene:147183 semapv:UnspecifiedMatching +OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch MONDO:0014719 semapv:UnspecifiedMatching +OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching +OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching +OMIM:616648 optic atrophy 8 skos:exactMatch MONDO:0024569 semapv:UnspecifiedMatching +OMIM:616649 spherocytosis, iia 2 skos:exactMatch MONDO:0000913 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch UMLS:C1825666 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:29068 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:KATNIP semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch ncbigene:23247 semapv:UnspecifiedMatching +OMIM:616651 roifman syndrome skos:exactMatch MONDO:0014722 semapv:UnspecifiedMatching +OMIM:616652 yuan-harel-lupski syndrome skos:exactMatch MONDO:0014723 semapv:UnspecifiedMatching +OMIM:616653 PNISR skos:exactMatch hgnc.symbol:21222 semapv:UnspecifiedMatching +OMIM:616653 PNISR skos:exactMatch hgnc.symbol:PNISR semapv:UnspecifiedMatching +OMIM:616653 PNISR skos:exactMatch ncbigene:25957 semapv:UnspecifiedMatching +OMIM:616654 joubert syndrome 24 skos:exactMatch MONDO:0014724 semapv:UnspecifiedMatching +OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:23801 semapv:UnspecifiedMatching +OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:SIPA1L3 semapv:UnspecifiedMatching +OMIM:616655 SIPA1L3 skos:exactMatch ncbigene:23094 semapv:UnspecifiedMatching +OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:26036 semapv:UnspecifiedMatching +OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:COMMD8 semapv:UnspecifiedMatching +OMIM:616656 COMMD8 skos:exactMatch ncbigene:54951 semapv:UnspecifiedMatching +OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch MONDO:0014725 semapv:UnspecifiedMatching +OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch Orphanet:447997 semapv:UnspecifiedMatching +OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching +OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:33702 semapv:UnspecifiedMatching +OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:MICOS13 semapv:UnspecifiedMatching +OMIM:616658 MICOS13 skos:exactMatch ncbigene:125988 semapv:UnspecifiedMatching +OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:25699 semapv:UnspecifiedMatching +OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:TBC1D17 semapv:UnspecifiedMatching +OMIM:616659 TBC1D17 skos:exactMatch ncbigene:79735 semapv:UnspecifiedMatching +OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:28709 semapv:UnspecifiedMatching +OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:TMEM175 semapv:UnspecifiedMatching +OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch ncbigene:84286 semapv:UnspecifiedMatching +OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:23573 semapv:UnspecifiedMatching +OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:MORC2 semapv:UnspecifiedMatching +OMIM:616661 MORC2 skos:exactMatch ncbigene:22880 semapv:UnspecifiedMatching +OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:23807 semapv:UnspecifiedMatching +OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:THUMPD1 semapv:UnspecifiedMatching +OMIM:616662 THUMPD1 skos:exactMatch ncbigene:55623 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch UMLS:C1823074 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch UMLS:C3281200 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:32952 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:SNORD118 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch ncbigene:727676 semapv:UnspecifiedMatching +OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:32711 semapv:UnspecifiedMatching +OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:SNORD13 semapv:UnspecifiedMatching +OMIM:616664 SNORD13 skos:exactMatch ncbigene:692084 semapv:UnspecifiedMatching +OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:11507 semapv:UnspecifiedMatching +OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:SYPL1 semapv:UnspecifiedMatching +OMIM:616665 SYPL1 skos:exactMatch ncbigene:6856 semapv:UnspecifiedMatching +OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:15955 semapv:UnspecifiedMatching +OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:SEZ6 semapv:UnspecifiedMatching +OMIM:616666 SEZ6 skos:exactMatch ncbigene:124925 semapv:UnspecifiedMatching +OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:30844 semapv:UnspecifiedMatching +OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:SEZ6L2 semapv:UnspecifiedMatching +OMIM:616667 SEZ6L2 skos:exactMatch ncbigene:26470 semapv:UnspecifiedMatching +OMIM:616668 charcot-marie-tooth disease, axonal, iia 2x skos:exactMatch MONDO:0014726 semapv:UnspecifiedMatching +OMIM:616669 immunodeficiency 45 skos:exactMatch MONDO:0014727 semapv:UnspecifiedMatching +OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:29534 semapv:UnspecifiedMatching +OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:ESYT1 semapv:UnspecifiedMatching +OMIM:616670 ESYT1 skos:exactMatch ncbigene:23344 semapv:UnspecifiedMatching +OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:24430 semapv:UnspecifiedMatching +OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:KRT76 semapv:UnspecifiedMatching +OMIM:616671 KRT76 skos:exactMatch ncbigene:51350 semapv:UnspecifiedMatching +OMIM:616672 combined oxidative phosphorylation deficiency 27 skos:exactMatch MONDO:0014728 semapv:UnspecifiedMatching +OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:28109 semapv:UnspecifiedMatching +OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:SKA1 semapv:UnspecifiedMatching +OMIM:616673 SKA1 skos:exactMatch ncbigene:220134 semapv:UnspecifiedMatching +OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:28006 semapv:UnspecifiedMatching +OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:SKA2 semapv:UnspecifiedMatching +OMIM:616674 SKA2 skos:exactMatch ncbigene:348235 semapv:UnspecifiedMatching +OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:30840 semapv:UnspecifiedMatching +OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:KRT26 semapv:UnspecifiedMatching +OMIM:616675 KRT26 skos:exactMatch ncbigene:353288 semapv:UnspecifiedMatching +OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:30841 semapv:UnspecifiedMatching +OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:KRT27 semapv:UnspecifiedMatching +OMIM:616676 KRT27 skos:exactMatch ncbigene:342574 semapv:UnspecifiedMatching +OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:30842 semapv:UnspecifiedMatching +OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:KRT28 semapv:UnspecifiedMatching +OMIM:616677 KRT28 skos:exactMatch ncbigene:162605 semapv:UnspecifiedMatching +OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:32971 semapv:UnspecifiedMatching +OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:KRT39 semapv:UnspecifiedMatching +OMIM:616678 KRT39 skos:exactMatch ncbigene:390792 semapv:UnspecifiedMatching +OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:26707 semapv:UnspecifiedMatching +OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:KRT40 semapv:UnspecifiedMatching +OMIM:616679 KRT40 skos:exactMatch ncbigene:125115 semapv:UnspecifiedMatching +OMIM:616680 spastic paraplegia 75, autosomal recessive skos:exactMatch MONDO:0014729 semapv:UnspecifiedMatching +OMIM:616681 microcephaly 16, primary, autosomal recessive skos:exactMatch MONDO:0014730 semapv:UnspecifiedMatching +OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome skos:exactMatch MONDO:0014731 semapv:UnspecifiedMatching +OMIM:616683 leukodystrophy, hypomyelinating, 12 skos:exactMatch MONDO:0014732 semapv:UnspecifiedMatching +OMIM:616684 charcot-marie-tooth disease, iia 4k skos:exactMatch MONDO:0014733 semapv:UnspecifiedMatching +OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 skos:exactMatch MONDO:0014734 semapv:UnspecifiedMatching +OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:16918 semapv:UnspecifiedMatching +OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:SYNCRIP semapv:UnspecifiedMatching +OMIM:616686 SYNCRIP skos:exactMatch ncbigene:10492 semapv:UnspecifiedMatching +OMIM:616687 charcot-marie-tooth disease, axonal, iia 2y skos:exactMatch MONDO:0014735 semapv:UnspecifiedMatching +OMIM:616688 charcot-marie-tooth disease, axonal, iia 2z skos:exactMatch MONDO:0014736 semapv:UnspecifiedMatching +OMIM:616689 dehydrated hereditary stomatocytosis 2 skos:exactMatch MONDO:0014737 semapv:UnspecifiedMatching +OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:24866 semapv:UnspecifiedMatching +OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:CEP104 semapv:UnspecifiedMatching +OMIM:616690 CEP104 skos:exactMatch ncbigene:9731 semapv:UnspecifiedMatching +OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:22211 semapv:UnspecifiedMatching +OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:ESYT2 semapv:UnspecifiedMatching +OMIM:616691 ESYT2 skos:exactMatch ncbigene:57488 semapv:UnspecifiedMatching +OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:24295 semapv:UnspecifiedMatching +OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:ESYT3 semapv:UnspecifiedMatching +OMIM:616692 ESYT3 skos:exactMatch ncbigene:83850 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch UMLS:C3469621 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:17537 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:ASIC5 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch ncbigene:51802 semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch UMLS:C1428777 semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:29020 semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:ECPAS semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch ncbigene:23392 semapv:UnspecifiedMatching +OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:18165 semapv:UnspecifiedMatching +OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:STYXL1 semapv:UnspecifiedMatching +OMIM:616695 STYXL1 skos:exactMatch ncbigene:51657 semapv:UnspecifiedMatching +OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:28950 semapv:UnspecifiedMatching +OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:KIAA0040 semapv:UnspecifiedMatching +OMIM:616696 KIAA0040 skos:exactMatch ncbigene:9674 semapv:UnspecifiedMatching +OMIM:616697 deafness, autosomal dominant 69 skos:exactMatch MONDO:0014738 semapv:UnspecifiedMatching +OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:30943 semapv:UnspecifiedMatching +OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:ZNF593 semapv:UnspecifiedMatching +OMIM:616698 ZNF593 skos:exactMatch ncbigene:51042 semapv:UnspecifiedMatching +OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:24993 semapv:UnspecifiedMatching +OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:COMMD2 semapv:UnspecifiedMatching +OMIM:616699 COMMD2 skos:exactMatch ncbigene:51122 semapv:UnspecifiedMatching +OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:23332 semapv:UnspecifiedMatching +OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:COMMD3 semapv:UnspecifiedMatching +OMIM:616700 COMMD3 skos:exactMatch ncbigene:23412 semapv:UnspecifiedMatching +OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:26027 semapv:UnspecifiedMatching +OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:COMMD4 semapv:UnspecifiedMatching +OMIM:616701 COMMD4 skos:exactMatch ncbigene:54939 semapv:UnspecifiedMatching +OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:16747 semapv:UnspecifiedMatching +OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:ZNF589 semapv:UnspecifiedMatching +OMIM:616702 ZNF589 skos:exactMatch ncbigene:51385 semapv:UnspecifiedMatching +OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:16223 semapv:UnspecifiedMatching +OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:COMMD7 semapv:UnspecifiedMatching +OMIM:616703 COMMD7 skos:exactMatch ncbigene:149951 semapv:UnspecifiedMatching +OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:30201 semapv:UnspecifiedMatching +OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:COMMD10 semapv:UnspecifiedMatching +OMIM:616704 COMMD10 skos:exactMatch ncbigene:51397 semapv:UnspecifiedMatching +OMIM:616705 deafness, autosomal recessive 97 skos:exactMatch MONDO:0014739 semapv:UnspecifiedMatching +OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:1186 semapv:UnspecifiedMatching +OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:PARP11 semapv:UnspecifiedMatching +OMIM:616706 PARP11 skos:exactMatch ncbigene:57097 semapv:UnspecifiedMatching +OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch MONDO:0014740 semapv:UnspecifiedMatching +OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch MONDO:0014741 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:284169 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch UMLS:C4225239 semapv:UnspecifiedMatching +OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:17968 semapv:UnspecifiedMatching +OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:A4GNT semapv:UnspecifiedMatching +OMIM:616709 A4GNT skos:exactMatch ncbigene:51146 semapv:UnspecifiedMatching +OMIM:616710 parkinson disease 22, autosomal dominant skos:exactMatch MONDO:0014742 semapv:UnspecifiedMatching +OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:18133 semapv:UnspecifiedMatching +OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:TAOK3 semapv:UnspecifiedMatching +OMIM:616711 TAOK3 skos:exactMatch ncbigene:51347 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch UMLS:C1425274 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch UMLS:C1842852 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:18063 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:STARD7 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch ncbigene:56910 semapv:UnspecifiedMatching +OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:17804 semapv:UnspecifiedMatching +OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:PIPOX semapv:UnspecifiedMatching +OMIM:616713 PIPOX skos:exactMatch ncbigene:51268 semapv:UnspecifiedMatching +OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:23200 semapv:UnspecifiedMatching +OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:HBP1 semapv:UnspecifiedMatching +OMIM:616714 HBP1 skos:exactMatch ncbigene:26959 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch UMLS:C2680492 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:30739 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:TMX2 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch ncbigene:51075 semapv:UnspecifiedMatching +OMIM:616716 rhizomelic chondrodysplasia punctata, iia 5 skos:exactMatch MONDO:0014743 semapv:UnspecifiedMatching +OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:25988 semapv:UnspecifiedMatching +OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:TEX10 semapv:UnspecifiedMatching +OMIM:616717 TEX10 skos:exactMatch ncbigene:54881 semapv:UnspecifiedMatching +OMIM:616718 NGRN skos:exactMatch hgnc.symbol:18077 semapv:UnspecifiedMatching +OMIM:616718 NGRN skos:exactMatch hgnc.symbol:NGRN semapv:UnspecifiedMatching +OMIM:616718 NGRN skos:exactMatch ncbigene:51335 semapv:UnspecifiedMatching +OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 skos:exactMatch MONDO:0014744 semapv:UnspecifiedMatching +OMIM:616720 myasthenic syndrome, congenital, 19 skos:exactMatch MONDO:0014745 semapv:UnspecifiedMatching +OMIM:616721 congenital disorder of glycosylation, iia iin skos:exactMatch MONDO:0014746 semapv:UnspecifiedMatching +OMIM:616722 retinal dystrophy and iris coloboma with or without cataract skos:exactMatch MONDO:0014747 semapv:UnspecifiedMatching +OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia skos:exactMatch MONDO:0014748 semapv:UnspecifiedMatching +OMIM:616724 tooth agenesis, selective, 7 skos:exactMatch MONDO:0014749 semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch UMLS:C2239343 semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:26429 semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:DDX60L semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch ncbigene:91351 semapv:UnspecifiedMatching +OMIM:616726 ciliary dyskinesia, primary, 33 skos:exactMatch MONDO:0014750 semapv:UnspecifiedMatching +OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:25161 semapv:UnspecifiedMatching +OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:PHF21B semapv:UnspecifiedMatching +OMIM:616727 PHF21B skos:exactMatch ncbigene:112885 semapv:UnspecifiedMatching +OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch MONDO:0014751 semapv:UnspecifiedMatching +OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch Orphanet:477993 semapv:UnspecifiedMatching +OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch UMLS:C4225229 semapv:UnspecifiedMatching +OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:15021 semapv:UnspecifiedMatching +OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:OR2W3 semapv:UnspecifiedMatching +OMIM:616729 OR2W3 skos:exactMatch ncbigene:343171 semapv:UnspecifiedMatching +OMIM:616730 nephrotic syndrome, iia 11 skos:exactMatch MONDO:0014752 semapv:UnspecifiedMatching +OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:7748 semapv:UnspecifiedMatching +OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:NEK5 semapv:UnspecifiedMatching +OMIM:616731 NEK5 skos:exactMatch ncbigene:341676 semapv:UnspecifiedMatching +OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures skos:exactMatch MONDO:0020737 semapv:UnspecifiedMatching +OMIM:616733 coenzyme Q10 deficiency, primary, 8 skos:exactMatch MONDO:0014754 semapv:UnspecifiedMatching +OMIM:616734 skin creases, congenital symmetric circumferential, 2 skos:exactMatch MONDO:0014755 semapv:UnspecifiedMatching +OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:28033 semapv:UnspecifiedMatching +OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:CCDC174 semapv:UnspecifiedMatching +OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch ncbigene:51244 semapv:UnspecifiedMatching +OMIM:616736 tremor, hereditary essential, 5 skos:exactMatch MONDO:0014756 semapv:UnspecifiedMatching +OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch MONDO:0014757 semapv:UnspecifiedMatching +OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch Orphanet:487796 semapv:UnspecifiedMatching +OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching +OMIM:616738 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch MONDO:0014758 semapv:UnspecifiedMatching +OMIM:616739 intellectual developmental disorder, autosomal recessive 51 skos:exactMatch MONDO:0014759 semapv:UnspecifiedMatching +OMIM:616740 immunodeficiency 46 skos:exactMatch MONDO:0014760 semapv:UnspecifiedMatching +OMIM:616741 PRDM13 skos:exactMatch UMLS:C1422335 semapv:UnspecifiedMatching +OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:13998 semapv:UnspecifiedMatching +OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:PRDM13 semapv:UnspecifiedMatching +OMIM:616741 PRDM13 skos:exactMatch ncbigene:59336 semapv:UnspecifiedMatching +OMIM:616742 NOP58 skos:exactMatch hgnc.symbol:29926 semapv:UnspecifiedMatching +OMIM:616742 NOP58 skos:exactMatch hgnc.symbol:NOP58 semapv:UnspecifiedMatching +OMIM:616742 NOP58 skos:exactMatch ncbigene:51602 semapv:UnspecifiedMatching +OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:30282 semapv:UnspecifiedMatching +OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:RGL3 semapv:UnspecifiedMatching +OMIM:616743 RGL3 skos:exactMatch ncbigene:57139 semapv:UnspecifiedMatching +OMIM:616744 autoinflammatory syndrome, familial, behcet-like 1 skos:exactMatch MONDO:0800045 semapv:UnspecifiedMatching +OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:25114 semapv:UnspecifiedMatching +OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:BOD1 semapv:UnspecifiedMatching +OMIM:616745 BOD1 skos:exactMatch ncbigene:91272 semapv:UnspecifiedMatching +OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:31792 semapv:UnspecifiedMatching +OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:BOD1L1 semapv:UnspecifiedMatching +OMIM:616746 BOD1L1 skos:exactMatch ncbigene:259282 semapv:UnspecifiedMatching +OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:17852 semapv:UnspecifiedMatching +OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:CHPT1 semapv:UnspecifiedMatching +OMIM:616747 CHPT1 skos:exactMatch ncbigene:56994 semapv:UnspecifiedMatching +OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:24860 semapv:UnspecifiedMatching +OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:ENTPD8 semapv:UnspecifiedMatching +OMIM:616748 ENTPD8 skos:exactMatch ncbigene:377841 semapv:UnspecifiedMatching +OMIM:616749 heterotaxy, visceral, 7, autosomal skos:exactMatch MONDO:0014762 semapv:UnspecifiedMatching +OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:20714 semapv:UnspecifiedMatching +OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:ZDHHC16 semapv:UnspecifiedMatching +OMIM:616750 ZDHHC16 skos:exactMatch ncbigene:84287 semapv:UnspecifiedMatching +OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:24289 semapv:UnspecifiedMatching +OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:CEPT1 semapv:UnspecifiedMatching +OMIM:616751 CEPT1 skos:exactMatch ncbigene:10390 semapv:UnspecifiedMatching +OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:24955 semapv:UnspecifiedMatching +OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:NSG2 semapv:UnspecifiedMatching +OMIM:616752 NSG2 skos:exactMatch ncbigene:51617 semapv:UnspecifiedMatching +OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:19745 semapv:UnspecifiedMatching +OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:ENTPD7 semapv:UnspecifiedMatching +OMIM:616753 ENTPD7 skos:exactMatch ncbigene:57089 semapv:UnspecifiedMatching +OMIM:616754 bombay phenotype skos:exactMatch MONDO:0014763 semapv:UnspecifiedMatching +OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:25574 semapv:UnspecifiedMatching +OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:TRIM62 semapv:UnspecifiedMatching +OMIM:616755 TRIM62 skos:exactMatch ncbigene:55223 semapv:UnspecifiedMatching +OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures skos:exactMatch MONDO:0014764 semapv:UnspecifiedMatching +OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:24677 semapv:UnspecifiedMatching +OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:TMEM150A semapv:UnspecifiedMatching +OMIM:616757 TMEM150A skos:exactMatch ncbigene:129303 semapv:UnspecifiedMatching +OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:26624 semapv:UnspecifiedMatching +OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:KDF1 semapv:UnspecifiedMatching +OMIM:616758 KDF1 skos:exactMatch ncbigene:126695 semapv:UnspecifiedMatching +OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:17946 semapv:UnspecifiedMatching +OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:NOSIP semapv:UnspecifiedMatching +OMIM:616759 NOSIP skos:exactMatch ncbigene:51070 semapv:UnspecifiedMatching +OMIM:616760 woolly hair, autosomal recessive 3 skos:exactMatch MONDO:0014765 semapv:UnspecifiedMatching +OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:19956 semapv:UnspecifiedMatching +OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:SUSD6 semapv:UnspecifiedMatching +OMIM:616761 SUSD6 skos:exactMatch ncbigene:9766 semapv:UnspecifiedMatching +OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:29578 semapv:UnspecifiedMatching +OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:CCSAP semapv:UnspecifiedMatching +OMIM:616762 CCSAP skos:exactMatch ncbigene:126731 semapv:UnspecifiedMatching +OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia skos:exactMatch MONDO:0014766 semapv:UnspecifiedMatching +OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:27501 semapv:UnspecifiedMatching +OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:SLC46A3 semapv:UnspecifiedMatching +OMIM:616764 SLC46A3 skos:exactMatch ncbigene:283537 semapv:UnspecifiedMatching +OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:28706 semapv:UnspecifiedMatching +OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:SAMD11 semapv:UnspecifiedMatching +OMIM:616765 SAMD11 skos:exactMatch ncbigene:148398 semapv:UnspecifiedMatching +OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:25237 semapv:UnspecifiedMatching +OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:TMX4 semapv:UnspecifiedMatching +OMIM:616766 TMX4 skos:exactMatch ncbigene:56255 semapv:UnspecifiedMatching +OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:16371 semapv:UnspecifiedMatching +OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:CAPNS2 semapv:UnspecifiedMatching +OMIM:616767 CAPNS2 skos:exactMatch ncbigene:84290 semapv:UnspecifiedMatching +OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:20773 semapv:UnspecifiedMatching +OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:TUBB8 semapv:UnspecifiedMatching +OMIM:616768 TUBB8 skos:exactMatch ncbigene:347688 semapv:UnspecifiedMatching +OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:29878 semapv:UnspecifiedMatching +OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:NIT2 semapv:UnspecifiedMatching +OMIM:616769 NIT2 skos:exactMatch ncbigene:56954 semapv:UnspecifiedMatching +OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:31595 semapv:UnspecifiedMatching +OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:MIR218-1 semapv:UnspecifiedMatching +OMIM:616770 MIR218-1 skos:exactMatch ncbigene:407000 semapv:UnspecifiedMatching +OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:31596 semapv:UnspecifiedMatching +OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:MIR218-2 semapv:UnspecifiedMatching +OMIM:616771 MIR218-2 skos:exactMatch ncbigene:407001 semapv:UnspecifiedMatching +OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:19080 semapv:UnspecifiedMatching +OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:MAN1C1 semapv:UnspecifiedMatching +OMIM:616772 MAN1C1 skos:exactMatch ncbigene:57134 semapv:UnspecifiedMatching +OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:24741 semapv:UnspecifiedMatching +OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:MIGA1 semapv:UnspecifiedMatching +OMIM:616773 MIGA1 skos:exactMatch ncbigene:374986 semapv:UnspecifiedMatching +OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:23621 semapv:UnspecifiedMatching +OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:MIGA2 semapv:UnspecifiedMatching +OMIM:616774 MIGA2 skos:exactMatch ncbigene:84895 semapv:UnspecifiedMatching +OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:28495 semapv:UnspecifiedMatching +OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:ZNF683 semapv:UnspecifiedMatching +OMIM:616775 ZNF683 skos:exactMatch ncbigene:257101 semapv:UnspecifiedMatching +OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:16236 semapv:UnspecifiedMatching +OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:DUSP15 semapv:UnspecifiedMatching +OMIM:616776 DUSP15 skos:exactMatch ncbigene:128853 semapv:UnspecifiedMatching +OMIM:616777 seckel syndrome 9 skos:exactMatch MONDO:0014767 semapv:UnspecifiedMatching +OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:16077 semapv:UnspecifiedMatching +OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:DUSP22 semapv:UnspecifiedMatching +OMIM:616778 DUSP22 skos:exactMatch ncbigene:56940 semapv:UnspecifiedMatching +OMIM:616779 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 2 skos:exactMatch MONDO:0014768 semapv:UnspecifiedMatching +OMIM:616780 oocyte/zygote/embryo maturation arrest 2 skos:exactMatch MONDO:0021573 semapv:UnspecifiedMatching +OMIM:616781 joubert syndrome 25 skos:exactMatch MONDO:0014770 semapv:UnspecifiedMatching +OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:17973 semapv:UnspecifiedMatching +OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:GCNT4 semapv:UnspecifiedMatching +OMIM:616782 GCNT4 skos:exactMatch ncbigene:51301 semapv:UnspecifiedMatching +OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:26354 semapv:UnspecifiedMatching +OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:UBXN10 semapv:UnspecifiedMatching +OMIM:616783 UBXN10 skos:exactMatch ncbigene:127733 semapv:UnspecifiedMatching +OMIM:616784 joubert syndrome 26 skos:exactMatch MONDO:0014771 semapv:UnspecifiedMatching +OMIM:616784 joubert syndrome 26 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:616784 joubert syndrome 26 skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching +OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:13411 semapv:UnspecifiedMatching +OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:PHTF2 semapv:UnspecifiedMatching +OMIM:616785 PHTF2 skos:exactMatch ncbigene:57157 semapv:UnspecifiedMatching +OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:29536 semapv:UnspecifiedMatching +OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:MAPKBP1 semapv:UnspecifiedMatching +OMIM:616786 MAPKBP1 skos:exactMatch ncbigene:23005 semapv:UnspecifiedMatching +OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:19009 semapv:UnspecifiedMatching +OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:CLUAP1 semapv:UnspecifiedMatching +OMIM:616787 CLUAP1 skos:exactMatch ncbigene:23059 semapv:UnspecifiedMatching +OMIM:616788 orofacial cleft 15 skos:exactMatch MONDO:0014772 semapv:UnspecifiedMatching +OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects skos:exactMatch MONDO:0014773 semapv:UnspecifiedMatching +OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:23788 semapv:UnspecifiedMatching +OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:PPP4R4 semapv:UnspecifiedMatching +OMIM:616790 PPP4R4 skos:exactMatch ncbigene:57718 semapv:UnspecifiedMatching +OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:19405 semapv:UnspecifiedMatching +OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:PGBD5 semapv:UnspecifiedMatching +OMIM:616791 PGBD5 skos:exactMatch ncbigene:79605 semapv:UnspecifiedMatching +OMIM:616792 neuroblastoma, susceptibility to, 7 skos:exactMatch MONDO:0014774 semapv:UnspecifiedMatching +OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:30040 semapv:UnspecifiedMatching +OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:PLA2G2F semapv:UnspecifiedMatching +OMIM:616793 PLA2G2F skos:exactMatch ncbigene:64600 semapv:UnspecifiedMatching +OMIM:616794 combined oxidative phosphorylation deficiency 28 skos:exactMatch MONDO:0014775 semapv:UnspecifiedMatching +OMIM:616795 spinocerebellar ataxia 42 skos:exactMatch MONDO:0014776 semapv:UnspecifiedMatching +OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:19979 semapv:UnspecifiedMatching +OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:RDH14 semapv:UnspecifiedMatching +OMIM:616796 RDH14 skos:exactMatch ncbigene:57665 semapv:UnspecifiedMatching +OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:29155 semapv:UnspecifiedMatching +OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:EFR3B semapv:UnspecifiedMatching +OMIM:616797 EFR3B skos:exactMatch ncbigene:22979 semapv:UnspecifiedMatching +OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:17801 semapv:UnspecifiedMatching +OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:ZFP28 semapv:UnspecifiedMatching +OMIM:616798 ZFP28 skos:exactMatch ncbigene:140612 semapv:UnspecifiedMatching +OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:21537 semapv:UnspecifiedMatching +OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:SYCP2L semapv:UnspecifiedMatching +OMIM:616799 SYCP2L skos:exactMatch ncbigene:221711 semapv:UnspecifiedMatching +OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:44169 semapv:UnspecifiedMatching +OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:LOXL1-AS1 semapv:UnspecifiedMatching +OMIM:616800 LOXL1AS1 skos:exactMatch ncbigene:100287616 semapv:UnspecifiedMatching +OMIM:616801 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch MONDO:0014777 semapv:UnspecifiedMatching +OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:37250 semapv:UnspecifiedMatching +OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:TARM1 semapv:UnspecifiedMatching +OMIM:616802 TARM1 skos:exactMatch ncbigene:441864 semapv:UnspecifiedMatching +OMIM:616803 lamb-shaffer syndrome skos:exactMatch MONDO:0014778 semapv:UnspecifiedMatching +OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:29455 semapv:UnspecifiedMatching +OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:VSTM1 semapv:UnspecifiedMatching +OMIM:616804 VSTM1 skos:exactMatch ncbigene:284415 semapv:UnspecifiedMatching +OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:23172 semapv:UnspecifiedMatching +OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:MYCT1 semapv:UnspecifiedMatching +OMIM:616805 MYCT1 skos:exactMatch ncbigene:80177 semapv:UnspecifiedMatching +OMIM:616806 wilms tumor 6 skos:exactMatch MONDO:0014779 semapv:UnspecifiedMatching +OMIM:616806 wilms tumor 6 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching +OMIM:616806 wilms tumor 6 skos:exactMatch UMLS:C3891301 semapv:UnspecifiedMatching +OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:24674 semapv:UnspecifiedMatching +OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:FBF1 semapv:UnspecifiedMatching +OMIM:616807 FBF1 skos:exactMatch ncbigene:85302 semapv:UnspecifiedMatching +OMIM:616808 SHFL skos:exactMatch hgnc.symbol:25649 semapv:UnspecifiedMatching +OMIM:616808 SHFL skos:exactMatch hgnc.symbol:SHFL semapv:UnspecifiedMatching +OMIM:616808 SHFL skos:exactMatch ncbigene:55337 semapv:UnspecifiedMatching +OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 skos:exactMatch MONDO:0014780 semapv:UnspecifiedMatching +OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:13770 semapv:UnspecifiedMatching +OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:IGDCC4 semapv:UnspecifiedMatching +OMIM:616810 IGDCC4 skos:exactMatch ncbigene:57722 semapv:UnspecifiedMatching +OMIM:616811 combined oxidative phosphorylation deficiency 29 skos:exactMatch MONDO:0014781 semapv:UnspecifiedMatching +OMIM:616812 muscular dystrophy, limb-girdle, autosomal recessive 25 skos:exactMatch MONDO:0014782 semapv:UnspecifiedMatching +OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:16923 semapv:UnspecifiedMatching +OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:AGAP3 semapv:UnspecifiedMatching +OMIM:616813 AGAP3 skos:exactMatch ncbigene:116988 semapv:UnspecifiedMatching +OMIM:616814 oocyte/zygote/embryo maturation arrest 15 skos:exactMatch MONDO:0014783 semapv:UnspecifiedMatching +OMIM:616814 oocyte/zygote/embryo maturation arrest 15 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching +OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:18085 semapv:UnspecifiedMatching +OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:TMEM199 semapv:UnspecifiedMatching +OMIM:616815 TMEM199 skos:exactMatch ncbigene:147007 semapv:UnspecifiedMatching +OMIM:616816 hypotonia, infantile, with psychomotor retardation skos:exactMatch MONDO:0014784 semapv:UnspecifiedMatching +OMIM:616817 microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch MONDO:0014785 semapv:UnspecifiedMatching +OMIM:616818 iga nephropathy, susceptibility to, 3 skos:exactMatch MONDO:0014786 semapv:UnspecifiedMatching +OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia skos:exactMatch MONDO:0014787 semapv:UnspecifiedMatching +OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:25778 semapv:UnspecifiedMatching +OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:MTHFSD semapv:UnspecifiedMatching +OMIM:616820 MTHFSD skos:exactMatch ncbigene:64779 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch UMLS:C1425063 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:17754 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:THSD1 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch ncbigene:55901 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch UMLS:C1826264 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch hgnc.symbol:29177 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch hgnc.symbol:MON2 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch ncbigene:23041 semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch UMLS:C1824958 semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:21194 semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:DOP1A semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch ncbigene:23033 semapv:UnspecifiedMatching +OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:34348 semapv:UnspecifiedMatching +OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:TRNP1 semapv:UnspecifiedMatching +OMIM:616824 TRNP1 skos:exactMatch ncbigene:388610 semapv:UnspecifiedMatching +OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:15909 semapv:UnspecifiedMatching +OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:NCOA5 semapv:UnspecifiedMatching +OMIM:616825 NCOA5 skos:exactMatch ncbigene:57727 semapv:UnspecifiedMatching +OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:24634 semapv:UnspecifiedMatching +OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:EPS15L1 semapv:UnspecifiedMatching +OMIM:616826 EPS15L1 skos:exactMatch ncbigene:58513 semapv:UnspecifiedMatching +OMIM:616827 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue skos:exactMatch MONDO:0014788 semapv:UnspecifiedMatching +OMIM:616828 congenital disorder of glycosylation, iia iio skos:exactMatch MONDO:0014789 semapv:UnspecifiedMatching +OMIM:616829 congenital disorder of glycosylation, iia iip skos:exactMatch MONDO:0014790 semapv:UnspecifiedMatching +OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:25439 semapv:UnspecifiedMatching +OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:TANGO2 semapv:UnspecifiedMatching +OMIM:616830 TANGO2 skos:exactMatch ncbigene:128989 semapv:UnspecifiedMatching +OMIM:616831 luscan-lumish syndrome skos:exactMatch MONDO:0014791 semapv:UnspecifiedMatching +OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:26679 semapv:UnspecifiedMatching +OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:MYOM3 semapv:UnspecifiedMatching +OMIM:616832 MYOM3 skos:exactMatch ncbigene:127294 semapv:UnspecifiedMatching +OMIM:616833 paget disease of bone 6 skos:exactMatch MONDO:0014792 semapv:UnspecifiedMatching +OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis skos:exactMatch MONDO:0014793 semapv:UnspecifiedMatching +OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch MONDO:0014794 semapv:UnspecifiedMatching +OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching +OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching +OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:25499 semapv:UnspecifiedMatching +OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:GPATCH2 semapv:UnspecifiedMatching +OMIM:616836 GPATCH2 skos:exactMatch ncbigene:55105 semapv:UnspecifiedMatching +OMIM:616837 human pluripotency-associated transcript 5, noncoding skos:exactMatch ncbigene:112590798 semapv:UnspecifiedMatching +OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:34520 semapv:UnspecifiedMatching +OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:CLEC17A semapv:UnspecifiedMatching +OMIM:616838 CLEC17A skos:exactMatch ncbigene:388512 semapv:UnspecifiedMatching +OMIM:616839 exercise intolerance, riboflavin-responsive skos:exactMatch MONDO:0014795 semapv:UnspecifiedMatching +OMIM:616839 exercise intolerance, riboflavin-responsive skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching +OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch MONDO:0014796 semapv:UnspecifiedMatching +OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching +OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch UMLS:C4225186 semapv:UnspecifiedMatching +OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:33105 semapv:UnspecifiedMatching +OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:ZNF468 semapv:UnspecifiedMatching +OMIM:616841 ZNF468 skos:exactMatch ncbigene:90333 semapv:UnspecifiedMatching +OMIM:616842 DHS6S1 skos:exactMatch ncbigene:111365204 semapv:UnspecifiedMatching +OMIM:616843 lymphatic malformation 6 skos:exactMatch MONDO:0014797 semapv:UnspecifiedMatching +OMIM:616843 lymphatic malformation 6 skos:exactMatch UMLS:C4225184 semapv:UnspecifiedMatching +OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:25556 semapv:UnspecifiedMatching +OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:DNAJC17 semapv:UnspecifiedMatching +OMIM:616844 DNAJC17 skos:exactMatch ncbigene:55192 semapv:UnspecifiedMatching +OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:19832 semapv:UnspecifiedMatching +OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:CLEC14A semapv:UnspecifiedMatching +OMIM:616845 CLEC14A skos:exactMatch ncbigene:161198 semapv:UnspecifiedMatching +OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:28957 semapv:UnspecifiedMatching +OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:EMC1 semapv:UnspecifiedMatching +OMIM:616846 EMC1 skos:exactMatch ncbigene:23065 semapv:UnspecifiedMatching +OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:25281 semapv:UnspecifiedMatching +OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:ZNF543 semapv:UnspecifiedMatching +OMIM:616847 ZNF543 skos:exactMatch ncbigene:125919 semapv:UnspecifiedMatching +OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:29657 semapv:UnspecifiedMatching +OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:MIER1 semapv:UnspecifiedMatching +OMIM:616848 MIER1 skos:exactMatch ncbigene:57708 semapv:UnspecifiedMatching +OMIM:616849 brachydactyly, iia a1, d skos:exactMatch MONDO:0014798 semapv:UnspecifiedMatching +OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:32672 semapv:UnspecifiedMatching +OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:WDR83 semapv:UnspecifiedMatching +OMIM:616850 WDR83 skos:exactMatch ncbigene:84292 semapv:UnspecifiedMatching +OMIM:616851 cataract 45 skos:exactMatch MONDO:0014799 semapv:UnspecifiedMatching +OMIM:616852 myopathy, scapulohumeroperoneal skos:exactMatch MONDO:0014800 semapv:UnspecifiedMatching +OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:30602 semapv:UnspecifiedMatching +OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:FAM72C semapv:UnspecifiedMatching +OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch ncbigene:554282 semapv:UnspecifiedMatching +OMIM:616854 even-plus syndrome skos:exactMatch MONDO:0014801 semapv:UnspecifiedMatching +OMIM:616855 COX8C skos:exactMatch hgnc.symbol:24382 semapv:UnspecifiedMatching +OMIM:616855 COX8C skos:exactMatch hgnc.symbol:COX8C semapv:UnspecifiedMatching +OMIM:616855 COX8C skos:exactMatch ncbigene:341947 semapv:UnspecifiedMatching +OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:14256 semapv:UnspecifiedMatching +OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:BRPF3 semapv:UnspecifiedMatching +OMIM:616856 BRPF3 skos:exactMatch ncbigene:27154 semapv:UnspecifiedMatching +OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:2018 semapv:UnspecifiedMatching +OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:CLCA4 semapv:UnspecifiedMatching +OMIM:616857 CLCA4 skos:exactMatch ncbigene:22802 semapv:UnspecifiedMatching +OMIM:616858 cowden syndrome 7 skos:exactMatch MONDO:0014802 semapv:UnspecifiedMatching +OMIM:616859 spasticity, childhood-onset, with hyperglycinemia skos:exactMatch MONDO:0014803 semapv:UnspecifiedMatching +OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch MONDO:0014804 semapv:UnspecifiedMatching +OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch Orphanet:255132 semapv:UnspecifiedMatching +OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch UMLS:C4225155 semapv:UnspecifiedMatching +OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:17435 semapv:UnspecifiedMatching +OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:SLC12A9 semapv:UnspecifiedMatching +OMIM:616861 SLC12A9 skos:exactMatch ncbigene:56996 semapv:UnspecifiedMatching +OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:10340 semapv:UnspecifiedMatching +OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:RPL34 semapv:UnspecifiedMatching +OMIM:616862 RPL34 skos:exactMatch ncbigene:6164 semapv:UnspecifiedMatching +OMIM:616863 hao-fountain syndrome skos:exactMatch MONDO:0014805 semapv:UnspecifiedMatching +OMIM:616863 hao-fountain syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching +OMIM:616863 hao-fountain syndrome skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching +OMIM:616864 HEXD skos:exactMatch hgnc.symbol:26307 semapv:UnspecifiedMatching +OMIM:616864 HEXD skos:exactMatch hgnc.symbol:HEXD semapv:UnspecifiedMatching +OMIM:616864 HEXD skos:exactMatch ncbigene:284004 semapv:UnspecifiedMatching +OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:14982 semapv:UnspecifiedMatching +OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:PAPOLG semapv:UnspecifiedMatching +OMIM:616865 PAPOLG skos:exactMatch ncbigene:64895 semapv:UnspecifiedMatching +OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch MONDO:0014806 semapv:UnspecifiedMatching +OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching +OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C1849101 semapv:UnspecifiedMatching +OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C4225177 semapv:UnspecifiedMatching +OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch MONDO:0014807 semapv:UnspecifiedMatching +OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching +OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching +OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch MONDO:0014808 semapv:UnspecifiedMatching +OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching +OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching +OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:26759 semapv:UnspecifiedMatching +OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:CNEP1R1 semapv:UnspecifiedMatching +OMIM:616869 CNEP1R1 skos:exactMatch ncbigene:255919 semapv:UnspecifiedMatching +OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:21076 semapv:UnspecifiedMatching +OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:TMEM14A semapv:UnspecifiedMatching +OMIM:616870 TMEM14A skos:exactMatch ncbigene:28978 semapv:UnspecifiedMatching +OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch MONDO:0014809 semapv:UnspecifiedMatching +OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch Orphanet:488647 semapv:UnspecifiedMatching +OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch UMLS:C4225174 semapv:UnspecifiedMatching +OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:21529 semapv:UnspecifiedMatching +OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:TM9SF3 semapv:UnspecifiedMatching +OMIM:616872 TM9SF3 skos:exactMatch ncbigene:56889 semapv:UnspecifiedMatching +OMIM:616873 immunodeficiency, common variable, 13 skos:exactMatch MONDO:0014810 semapv:UnspecifiedMatching +OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:24257 semapv:UnspecifiedMatching +OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:TMBIM4 semapv:UnspecifiedMatching +OMIM:616874 TMBIM4 skos:exactMatch ncbigene:51643 semapv:UnspecifiedMatching +OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation skos:exactMatch MONDO:0014811 semapv:UnspecifiedMatching +OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:24251 semapv:UnspecifiedMatching +OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:TMED5 semapv:UnspecifiedMatching +OMIM:616876 TMED5 skos:exactMatch ncbigene:50999 semapv:UnspecifiedMatching +OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:18823 semapv:UnspecifiedMatching +OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:TMEM9 semapv:UnspecifiedMatching +OMIM:616877 TMEM9 skos:exactMatch ncbigene:252839 semapv:UnspecifiedMatching +OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration skos:exactMatch MONDO:0018820 semapv:UnspecifiedMatching +OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:1309 semapv:UnspecifiedMatching +OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:TBC1D22A semapv:UnspecifiedMatching +OMIM:616879 TBC1D22A skos:exactMatch ncbigene:25771 semapv:UnspecifiedMatching +OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:21602 semapv:UnspecifiedMatching +OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:TBC1D22B semapv:UnspecifiedMatching +OMIM:616880 TBC1D22B skos:exactMatch ncbigene:55633 semapv:UnspecifiedMatching +OMIM:616881 leukodystrophy, hypomyelinating, 13 skos:exactMatch MONDO:0014813 semapv:UnspecifiedMatching +OMIM:616882 advanced sleep phase syndrome, familial, 3 skos:exactMatch MONDO:0014814 semapv:UnspecifiedMatching +OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:24085 semapv:UnspecifiedMatching +OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:SRPRB semapv:UnspecifiedMatching +OMIM:616883 SRPRB skos:exactMatch ncbigene:58477 semapv:UnspecifiedMatching +OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:19966 semapv:UnspecifiedMatching +OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:UNC79 semapv:UnspecifiedMatching +OMIM:616884 UNC79 skos:exactMatch ncbigene:57578 semapv:UnspecifiedMatching +OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:17150 semapv:UnspecifiedMatching +OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:CARHSP1 semapv:UnspecifiedMatching +OMIM:616885 CARHSP1 skos:exactMatch ncbigene:23589 semapv:UnspecifiedMatching +OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:28979 semapv:UnspecifiedMatching +OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:GSE1 semapv:UnspecifiedMatching +OMIM:616886 GSE1 skos:exactMatch ncbigene:23199 semapv:UnspecifiedMatching +OMIM:616887 intellectual developmental disorder, autosomal recessive 52 skos:exactMatch MONDO:0014815 semapv:UnspecifiedMatching +OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:21427 semapv:UnspecifiedMatching +OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:TMEM8B semapv:UnspecifiedMatching +OMIM:616888 TMEM8B skos:exactMatch ncbigene:51754 semapv:UnspecifiedMatching +OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:29076 semapv:UnspecifiedMatching +OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:CEP68 semapv:UnspecifiedMatching +OMIM:616889 CEP68 skos:exactMatch ncbigene:23177 semapv:UnspecifiedMatching +OMIM:616890 split-foot malformation with mesoaxial polydactyly skos:exactMatch MONDO:0014816 semapv:UnspecifiedMatching +OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:52297 semapv:UnspecifiedMatching +OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:STRIT1 semapv:UnspecifiedMatching +OMIM:616891 STRIT1 skos:exactMatch ncbigene:100507537 semapv:UnspecifiedMatching +OMIM:616892 nephrotic syndrome, iia 12 skos:exactMatch MONDO:0014817 semapv:UnspecifiedMatching +OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch MONDO:0014818 semapv:UnspecifiedMatching +OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching +OMIM:616894 robinow syndrome, autosomal dominant 3 skos:exactMatch MONDO:0014819 semapv:UnspecifiedMatching +OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:49644 semapv:UnspecifiedMatching +OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:SAMMSON semapv:UnspecifiedMatching +OMIM:616895 SAMMSON skos:exactMatch ncbigene:101927152 semapv:UnspecifiedMatching +OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) skos:exactMatch MONDO:0014820 semapv:UnspecifiedMatching +OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) skos:exactMatch UMLS:C4225163 semapv:UnspecifiedMatching +OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch MONDO:0014821 semapv:UnspecifiedMatching +OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching +OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch UMLS:C4225162 semapv:UnspecifiedMatching +OMIM:616898 chromosome 15q14 deletion syndrome skos:exactMatch MONDO:0014822 semapv:UnspecifiedMatching +OMIM:616899 TBCK skos:exactMatch hgnc.symbol:28261 semapv:UnspecifiedMatching +OMIM:616899 TBCK skos:exactMatch hgnc.symbol:TBCK semapv:UnspecifiedMatching +OMIM:616899 TBCK skos:exactMatch ncbigene:93627 semapv:UnspecifiedMatching +OMIM:616900 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch MONDO:0014823 semapv:UnspecifiedMatching +OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch MONDO:0800438 semapv:UnspecifiedMatching +OMIM:616902 chromosome 11p13 deletion syndrome, distal skos:exactMatch MONDO:0014825 semapv:UnspecifiedMatching +OMIM:616903 thiopurines, poor metabolism of, 2 skos:exactMatch MONDO:0014826 semapv:UnspecifiedMatching +OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:23476 semapv:UnspecifiedMatching +OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:DOCK5 semapv:UnspecifiedMatching +OMIM:616904 DOCK5 skos:exactMatch ncbigene:80005 semapv:UnspecifiedMatching +OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:24549 semapv:UnspecifiedMatching +OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:MRFAP1 semapv:UnspecifiedMatching +OMIM:616905 MRFAP1 skos:exactMatch ncbigene:93621 semapv:UnspecifiedMatching +OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:29599 semapv:UnspecifiedMatching +OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:DNAI7 semapv:UnspecifiedMatching +OMIM:616906 CASC1 skos:exactMatch ncbigene:55259 semapv:UnspecifiedMatching +OMIM:616907 spastic paraplegia 76, autosomal recessive skos:exactMatch MONDO:0014827 semapv:UnspecifiedMatching +OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:21345 semapv:UnspecifiedMatching +OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:PTCHD4 semapv:UnspecifiedMatching +OMIM:616908 PTCHD4 skos:exactMatch ncbigene:442213 semapv:UnspecifiedMatching +OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:24350 semapv:UnspecifiedMatching +OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:CCDC68 semapv:UnspecifiedMatching +OMIM:616909 CCDC68 skos:exactMatch ncbigene:80323 semapv:UnspecifiedMatching +OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch MONDO:0014828 semapv:UnspecifiedMatching +OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch MONDO:0014829 semapv:UnspecifiedMatching +OMIM:616912 EVL skos:exactMatch hgnc.symbol:20234 semapv:UnspecifiedMatching +OMIM:616912 EVL skos:exactMatch hgnc.symbol:EVL semapv:UnspecifiedMatching +OMIM:616912 EVL skos:exactMatch ncbigene:51466 semapv:UnspecifiedMatching +OMIM:616913 bleeding disorder, platelet-type, 20 skos:exactMatch MONDO:0014830 semapv:UnspecifiedMatching +OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome skos:exactMatch MONDO:0014831 semapv:UnspecifiedMatching +OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:25082 semapv:UnspecifiedMatching +OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:SMAP2 semapv:UnspecifiedMatching +OMIM:616916 SMAP2 skos:exactMatch ncbigene:64744 semapv:UnspecifiedMatching +OMIM:616917 neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy skos:exactMatch MONDO:0014832 semapv:UnspecifiedMatching +OMIM:616918 PIGG skos:exactMatch hgnc.symbol:25985 semapv:UnspecifiedMatching +OMIM:616918 PIGG skos:exactMatch hgnc.symbol:PIGG semapv:UnspecifiedMatching +OMIM:616918 PIGG skos:exactMatch ncbigene:54872 semapv:UnspecifiedMatching +OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:29159 semapv:UnspecifiedMatching +OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:FRMPD1 semapv:UnspecifiedMatching +OMIM:616919 FRMPD1 skos:exactMatch ncbigene:22844 semapv:UnspecifiedMatching +OMIM:616920 heart and brain malformation syndrome skos:exactMatch MONDO:0014833 semapv:UnspecifiedMatching +OMIM:616921 dyskinesia, limb and orofacial, infantile-onset skos:exactMatch MONDO:0044637 semapv:UnspecifiedMatching +OMIM:616922 striatal degeneration, autosomal dominant 2 skos:exactMatch MONDO:0014835 semapv:UnspecifiedMatching +OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:32947 semapv:UnspecifiedMatching +OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:RNF207 semapv:UnspecifiedMatching +OMIM:616923 RNF207 skos:exactMatch ncbigene:388591 semapv:UnspecifiedMatching +OMIM:616924 charcot-marie-tooth disease, axonal, iia 2cc skos:exactMatch MONDO:0014836 semapv:UnspecifiedMatching +OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:23175 semapv:UnspecifiedMatching +OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:DHRS4-AS1 semapv:UnspecifiedMatching +OMIM:616925 DHRS4AS1 skos:exactMatch ncbigene:55449 semapv:UnspecifiedMatching +OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:4028 semapv:UnspecifiedMatching +OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:FXYD4 semapv:UnspecifiedMatching +OMIM:616926 FXYD4 skos:exactMatch ncbigene:53828 semapv:UnspecifiedMatching +OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:30162 semapv:UnspecifiedMatching +OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:EXOC3L2 semapv:UnspecifiedMatching +OMIM:616927 EXOC3L2 skos:exactMatch ncbigene:90332 semapv:UnspecifiedMatching +OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:25480 semapv:UnspecifiedMatching +OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:TMEM45A semapv:UnspecifiedMatching +OMIM:616928 TMEM45A skos:exactMatch ncbigene:55076 semapv:UnspecifiedMatching +OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:30779 semapv:UnspecifiedMatching +OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:MTERF2 semapv:UnspecifiedMatching +OMIM:616929 MTERF2 skos:exactMatch ncbigene:80298 semapv:UnspecifiedMatching +OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:24258 semapv:UnspecifiedMatching +OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:MTERF3 semapv:UnspecifiedMatching +OMIM:616930 MTERF3 skos:exactMatch ncbigene:51001 semapv:UnspecifiedMatching +OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:19234 semapv:UnspecifiedMatching +OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:FUT10 semapv:UnspecifiedMatching +OMIM:616931 FUT10 skos:exactMatch ncbigene:84750 semapv:UnspecifiedMatching +OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:19233 semapv:UnspecifiedMatching +OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:FUT11 semapv:UnspecifiedMatching +OMIM:616932 FUT11 skos:exactMatch ncbigene:170384 semapv:UnspecifiedMatching +OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:25407 semapv:UnspecifiedMatching +OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:FYTTD1 semapv:UnspecifiedMatching +OMIM:616933 FYTTD1 skos:exactMatch ncbigene:84248 semapv:UnspecifiedMatching +OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:26670 semapv:UnspecifiedMatching +OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:MEIOC semapv:UnspecifiedMatching +OMIM:616934 MEIOC skos:exactMatch ncbigene:284071 semapv:UnspecifiedMatching +OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:24666 semapv:UnspecifiedMatching +OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:FAF2 semapv:UnspecifiedMatching +OMIM:616935 FAF2 skos:exactMatch ncbigene:23197 semapv:UnspecifiedMatching +OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:25701 semapv:UnspecifiedMatching +OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:CHD9 semapv:UnspecifiedMatching +OMIM:616936 CHD9 skos:exactMatch ncbigene:80205 semapv:UnspecifiedMatching +OMIM:616937 thrombocytopenia 6 skos:exactMatch MONDO:0014837 semapv:UnspecifiedMatching +OMIM:616938 coffin-siris syndrome 5 skos:exactMatch MONDO:0014838 semapv:UnspecifiedMatching +OMIM:616939 chorea, childhood-onset, with psychomotor retardation skos:exactMatch MONDO:0014839 semapv:UnspecifiedMatching +OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:20217 semapv:UnspecifiedMatching +OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:EXD2 semapv:UnspecifiedMatching +OMIM:616940 EXD2 skos:exactMatch ncbigene:55218 semapv:UnspecifiedMatching +OMIM:616941 agammaglobulinemia 8a, autosomal dominant skos:exactMatch MONDO:0014840 semapv:UnspecifiedMatching +OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:24811 semapv:UnspecifiedMatching +OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:PDIA5 semapv:UnspecifiedMatching +OMIM:616942 PDIA5 skos:exactMatch ncbigene:10954 semapv:UnspecifiedMatching +OMIM:616943 trichothiodystrophy 6, nonphotosensitive skos:exactMatch MONDO:0014841 semapv:UnspecifiedMatching +OMIM:616944 intellectual developmental disorder, autosomal dominant 41 skos:exactMatch MONDO:0014842 semapv:UnspecifiedMatching +OMIM:616944 intellectual developmental disorder, autosomal dominant 41 skos:exactMatch UMLS:C4310784 semapv:UnspecifiedMatching +OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:23046 semapv:UnspecifiedMatching +OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:CLVS2 semapv:UnspecifiedMatching +OMIM:616945 CLVS2 skos:exactMatch ncbigene:134829 semapv:UnspecifiedMatching +OMIM:616946 premature ovarian failure 11 skos:exactMatch MONDO:0014843 semapv:UnspecifiedMatching +OMIM:616947 premature ovarian failure 12 skos:exactMatch MONDO:0014844 semapv:UnspecifiedMatching +OMIM:616948 spinocerebellar ataxia, autosomal recessive 22 skos:exactMatch MONDO:0014845 semapv:UnspecifiedMatching +OMIM:616949 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch MONDO:0014846 semapv:UnspecifiedMatching +OMIM:616950 spermatogenic failure 15 skos:exactMatch MONDO:0014847 semapv:UnspecifiedMatching +OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:25094 semapv:UnspecifiedMatching +OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:MTSS2 semapv:UnspecifiedMatching +OMIM:616951 MTSS2 skos:exactMatch ncbigene:92154 semapv:UnspecifiedMatching +OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:21097 semapv:UnspecifiedMatching +OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:MCUR1 semapv:UnspecifiedMatching +OMIM:616952 MCUR1 skos:exactMatch ncbigene:63933 semapv:UnspecifiedMatching +OMIM:616953 CUTA skos:exactMatch hgnc.symbol:21101 semapv:UnspecifiedMatching +OMIM:616953 CUTA skos:exactMatch hgnc.symbol:CUTA semapv:UnspecifiedMatching +OMIM:616953 CUTA skos:exactMatch ncbigene:51596 semapv:UnspecifiedMatching +OMIM:616954 you-hoover-fong syndrome skos:exactMatch MONDO:0014848 semapv:UnspecifiedMatching +OMIM:616955 REM2 skos:exactMatch hgnc.symbol:20248 semapv:UnspecifiedMatching +OMIM:616955 REM2 skos:exactMatch hgnc.symbol:REM2 semapv:UnspecifiedMatching +OMIM:616955 REM2 skos:exactMatch ncbigene:161253 semapv:UnspecifiedMatching +OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:19293 semapv:UnspecifiedMatching +OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:TPPP2 semapv:UnspecifiedMatching +OMIM:616956 TPPP2 skos:exactMatch ncbigene:122664 semapv:UnspecifiedMatching +OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:24162 semapv:UnspecifiedMatching +OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:TPPP3 semapv:UnspecifiedMatching +OMIM:616957 TPPP3 skos:exactMatch ncbigene:51673 semapv:UnspecifiedMatching +OMIM:616958 skos:exactMatch MONDO:0014849 semapv:UnspecifiedMatching +OMIM:616959 retinitis pigmentosa and erythrocytic microcytosis skos:exactMatch MONDO:0014850 semapv:UnspecifiedMatching +OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:21918 semapv:UnspecifiedMatching +OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:GIMAP6 semapv:UnspecifiedMatching +OMIM:616960 GIMAP6 skos:exactMatch ncbigene:474344 semapv:UnspecifiedMatching +OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:22404 semapv:UnspecifiedMatching +OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:GIMAP7 semapv:UnspecifiedMatching +OMIM:616961 GIMAP7 skos:exactMatch ncbigene:168537 semapv:UnspecifiedMatching +OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:21792 semapv:UnspecifiedMatching +OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:GIMAP8 semapv:UnspecifiedMatching +OMIM:616962 GIMAP8 skos:exactMatch ncbigene:155038 semapv:UnspecifiedMatching +OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch MONDO:0014851 semapv:UnspecifiedMatching +OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch Orphanet:300547 semapv:UnspecifiedMatching +OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch UMLS:C4310473 semapv:UnspecifiedMatching +OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:19010 semapv:UnspecifiedMatching +OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:ADGRG5 semapv:UnspecifiedMatching +OMIM:616965 ADGRG5 skos:exactMatch ncbigene:221188 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch UMLS:C1427543 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:21398 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:ABHD6 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch ncbigene:57406 semapv:UnspecifiedMatching +OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:28218 semapv:UnspecifiedMatching +OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:TXNDC17 semapv:UnspecifiedMatching +OMIM:616967 TXNDC17 skos:exactMatch ncbigene:84817 semapv:UnspecifiedMatching +OMIM:616968 deafness, autosomal dominant 70 skos:exactMatch MONDO:0014853 semapv:UnspecifiedMatching +OMIM:616969 deafness, autosomal dominant 66 skos:exactMatch MONDO:0014854 semapv:UnspecifiedMatching +OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:28674 semapv:UnspecifiedMatching +OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:MARVELD1 semapv:UnspecifiedMatching +OMIM:616970 MARVELD1 skos:exactMatch ncbigene:83742 semapv:UnspecifiedMatching +OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:15927 semapv:UnspecifiedMatching +OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:ERGIC3 semapv:UnspecifiedMatching +OMIM:616971 ERGIC3 skos:exactMatch ncbigene:51614 semapv:UnspecifiedMatching +OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:32075 semapv:UnspecifiedMatching +OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:MIR490 semapv:UnspecifiedMatching +OMIM:616972 MIR490 skos:exactMatch ncbigene:574443 semapv:UnspecifiedMatching +OMIM:616973 intellectual developmental disorder, autosomal dominant 42 skos:exactMatch MONDO:0014855 semapv:UnspecifiedMatching +OMIM:616974 combined oxidative phosphorylation deficiency 30 skos:exactMatch MONDO:0014856 semapv:UnspecifiedMatching +OMIM:616975 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch MONDO:0014857 semapv:UnspecifiedMatching +OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:18736 semapv:UnspecifiedMatching +OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:TRIM40 semapv:UnspecifiedMatching +OMIM:616976 TRIM40 skos:exactMatch ncbigene:135644 semapv:UnspecifiedMatching +OMIM:616977 intellectual developmental disorder, autosomal dominant 43 skos:exactMatch MONDO:0014858 semapv:UnspecifiedMatching +OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:17840 semapv:UnspecifiedMatching +OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:CHCHD5 semapv:UnspecifiedMatching +OMIM:616978 CHCHD5 skos:exactMatch ncbigene:84269 semapv:UnspecifiedMatching +OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:37261 semapv:UnspecifiedMatching +OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:DTHD1 semapv:UnspecifiedMatching +OMIM:616979 DTHD1 skos:exactMatch ncbigene:401124 semapv:UnspecifiedMatching +OMIM:616980 CYREN skos:exactMatch hgnc.symbol:22432 semapv:UnspecifiedMatching +OMIM:616980 CYREN skos:exactMatch hgnc.symbol:CYREN semapv:UnspecifiedMatching +OMIM:616980 CYREN skos:exactMatch ncbigene:78996 semapv:UnspecifiedMatching +OMIM:616981 developmental and epileptic encephalopathy 37 skos:exactMatch MONDO:0014859 semapv:UnspecifiedMatching +OMIM:616981 developmental and epileptic encephalopathy 37 skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching +OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:9350 semapv:UnspecifiedMatching +OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:PRDM6 semapv:UnspecifiedMatching +OMIM:616982 PRDM6 skos:exactMatch ncbigene:93166 semapv:UnspecifiedMatching +OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:23409 semapv:UnspecifiedMatching +OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:ENPP6 semapv:UnspecifiedMatching +OMIM:616983 ENPP6 skos:exactMatch ncbigene:133121 semapv:UnspecifiedMatching +OMIM:616984 NPVF skos:exactMatch hgnc.symbol:13782 semapv:UnspecifiedMatching +OMIM:616984 NPVF skos:exactMatch hgnc.symbol:NPVF semapv:UnspecifiedMatching +OMIM:616984 NPVF skos:exactMatch ncbigene:64111 semapv:UnspecifiedMatching +OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:37155 semapv:UnspecifiedMatching +OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:MTRNR2L1 semapv:UnspecifiedMatching +OMIM:616985 MTRNR2L1 skos:exactMatch ncbigene:100462977 semapv:UnspecifiedMatching +OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:21247 semapv:UnspecifiedMatching +OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:C6orf120 semapv:UnspecifiedMatching +OMIM:616987 C6ORF120 skos:exactMatch ncbigene:387263 semapv:UnspecifiedMatching +OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:29841 semapv:UnspecifiedMatching +OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:CLLU1 semapv:UnspecifiedMatching +OMIM:616988 CLLU1 skos:exactMatch ncbigene:574028 semapv:UnspecifiedMatching +OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:24070 semapv:UnspecifiedMatching +OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:CLLU1-AS1 semapv:UnspecifiedMatching +OMIM:616989 CLLU1OS skos:exactMatch ncbigene:574016 semapv:UnspecifiedMatching +OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:2096 semapv:UnspecifiedMatching +OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:CLUL1 semapv:UnspecifiedMatching +OMIM:616990 CLUL1 skos:exactMatch ncbigene:27098 semapv:UnspecifiedMatching +OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:21661 semapv:UnspecifiedMatching +OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:MUC21 semapv:UnspecifiedMatching +OMIM:616991 MUC21 skos:exactMatch ncbigene:394263 semapv:UnspecifiedMatching +OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:17737 semapv:UnspecifiedMatching +OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:C8orf17 semapv:UnspecifiedMatching +OMIM:616992 C8ORF17 skos:exactMatch ncbigene:100507249 semapv:UnspecifiedMatching +OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:21707 semapv:UnspecifiedMatching +OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:TMEM243 semapv:UnspecifiedMatching +OMIM:616993 TMEM243 skos:exactMatch ncbigene:79161 semapv:UnspecifiedMatching +OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch MONDO:0859567 semapv:UnspecifiedMatching +OMIM:616995 CIPC skos:exactMatch hgnc.symbol:20365 semapv:UnspecifiedMatching +OMIM:616995 CIPC skos:exactMatch hgnc.symbol:CIPC semapv:UnspecifiedMatching +OMIM:616995 CIPC skos:exactMatch ncbigene:85457 semapv:UnspecifiedMatching +OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:19028 semapv:UnspecifiedMatching +OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:TRIM56 semapv:UnspecifiedMatching +OMIM:616996 TRIM56 skos:exactMatch ncbigene:81844 semapv:UnspecifiedMatching +OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:23764 semapv:UnspecifiedMatching +OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:ENPP7 semapv:UnspecifiedMatching +OMIM:616997 ENPP7 skos:exactMatch ncbigene:339221 semapv:UnspecifiedMatching +OMIM:616998 LLPH skos:exactMatch hgnc.symbol:28229 semapv:UnspecifiedMatching +OMIM:616998 LLPH skos:exactMatch hgnc.symbol:LLPH semapv:UnspecifiedMatching +OMIM:616998 LLPH skos:exactMatch ncbigene:84298 semapv:UnspecifiedMatching +OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:27097 semapv:UnspecifiedMatching +OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:RBFOX3 semapv:UnspecifiedMatching +OMIM:616999 RBFOX3 skos:exactMatch ncbigene:146713 semapv:UnspecifiedMatching +OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:3359 semapv:UnspecifiedMatching +OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:ENPP4 semapv:UnspecifiedMatching +OMIM:617000 ENPP4 skos:exactMatch ncbigene:22875 semapv:UnspecifiedMatching +OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:13717 semapv:UnspecifiedMatching +OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:ENPP5 semapv:UnspecifiedMatching +OMIM:617001 ENPP5 skos:exactMatch ncbigene:59084 semapv:UnspecifiedMatching +OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:28095 semapv:UnspecifiedMatching +OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:BICDL1 semapv:UnspecifiedMatching +OMIM:617002 BICDL1 skos:exactMatch ncbigene:92558 semapv:UnspecifiedMatching +OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:33584 semapv:UnspecifiedMatching +OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:BICDL2 semapv:UnspecifiedMatching +OMIM:617003 BICDL2 skos:exactMatch ncbigene:146439 semapv:UnspecifiedMatching +OMIM:617004 polycystic liver disease 2 with or without kidney cysts skos:exactMatch MONDO:0014860 semapv:UnspecifiedMatching +OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:2038 semapv:UnspecifiedMatching +OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:CLDN17 semapv:UnspecifiedMatching +OMIM:617005 CLDN17 skos:exactMatch ncbigene:26285 semapv:UnspecifiedMatching +OMIM:617006 autoimmune disease, multisystem, infantile-onset, 2 skos:exactMatch MONDO:0014861 semapv:UnspecifiedMatching +OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:16285 semapv:UnspecifiedMatching +OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:TRIM35 semapv:UnspecifiedMatching +OMIM:617007 TRIM35 skos:exactMatch ncbigene:23087 semapv:UnspecifiedMatching +OMIM:617008 cerebral palsy, spastic quadriplegic, 3 skos:exactMatch MONDO:0014862 semapv:UnspecifiedMatching +OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:25691 semapv:UnspecifiedMatching +OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:ANKRD53 semapv:UnspecifiedMatching +OMIM:617009 ANKRD53 skos:exactMatch ncbigene:79998 semapv:UnspecifiedMatching +OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:15784 semapv:UnspecifiedMatching +OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:ULK4 semapv:UnspecifiedMatching +OMIM:617010 ULK4 skos:exactMatch ncbigene:54986 semapv:UnspecifiedMatching +OMIM:617011 macrocephaly, dysmorphic facies, and psychomotor retardation skos:exactMatch MONDO:0014863 semapv:UnspecifiedMatching +OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:32190 semapv:UnspecifiedMatching +OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:PVRIG semapv:UnspecifiedMatching +OMIM:617012 PVRIG skos:exactMatch ncbigene:79037 semapv:UnspecifiedMatching +OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch MONDO:0014864 semapv:UnspecifiedMatching +OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch Orphanet:521406 semapv:UnspecifiedMatching +OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching +OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive skos:exactMatch MONDO:0014865 semapv:UnspecifiedMatching +OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:26462 semapv:UnspecifiedMatching +OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:PLCXD2 semapv:UnspecifiedMatching +OMIM:617015 PLCXD2 skos:exactMatch ncbigene:257068 semapv:UnspecifiedMatching +OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:31822 semapv:UnspecifiedMatching +OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:PLCXD3 semapv:UnspecifiedMatching +OMIM:617016 PLCXD3 skos:exactMatch ncbigene:345557 semapv:UnspecifiedMatching +OMIM:617017 charcot-marie-tooth disease, axonal, iia 2t skos:exactMatch MONDO:0014866 semapv:UnspecifiedMatching +OMIM:617018 spinocerebellar ataxia 43 skos:exactMatch MONDO:0014867 semapv:UnspecifiedMatching +OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:15876 semapv:UnspecifiedMatching +OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:TMEM230 semapv:UnspecifiedMatching +OMIM:617019 TMEM230 skos:exactMatch ncbigene:29058 semapv:UnspecifiedMatching +OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch MONDO:0014868 semapv:UnspecifiedMatching +OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching +OMIM:617021 hydrops, lactic acidosis, and sideroblastic anemia skos:exactMatch MONDO:0014869 semapv:UnspecifiedMatching +OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch MONDO:0014870 semapv:UnspecifiedMatching +OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch Orphanet:464366 semapv:UnspecifiedMatching +OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch UMLS:C4310760 semapv:UnspecifiedMatching +OMIM:617023 retinitis pigmentosa 75 skos:exactMatch MONDO:0014871 semapv:UnspecifiedMatching +OMIM:617024 night blindness, congenital stationary, iia 1h skos:exactMatch MONDO:0014872 semapv:UnspecifiedMatching +OMIM:617025 nevus comedonicus skos:exactMatch MONDO:0014873 semapv:UnspecifiedMatching +OMIM:617025 nevus comedonicus skos:exactMatch Orphanet:64754 semapv:UnspecifiedMatching +OMIM:617025 nevus comedonicus skos:exactMatch UMLS:C0265987 semapv:UnspecifiedMatching +OMIM:617026 pontocerebellar hypoplasia, iia 2f skos:exactMatch MONDO:0014874 semapv:UnspecifiedMatching +OMIM:617027 hyperaldosteronism, familial, iia 4 skos:exactMatch MONDO:0014875 semapv:UnspecifiedMatching +OMIM:617028 intellectual developmental disorder, autosomal recessive 54 skos:exactMatch MONDO:0014876 semapv:UnspecifiedMatching +OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:10730 semapv:UnspecifiedMatching +OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:SEMA4B semapv:UnspecifiedMatching +OMIM:617029 SEMA4B skos:exactMatch ncbigene:10509 semapv:UnspecifiedMatching +OMIM:617030 myopathy, distal, 5 skos:exactMatch MONDO:0014877 semapv:UnspecifiedMatching +OMIM:617030 myopathy, distal, 5 skos:exactMatch Orphanet:482601 semapv:UnspecifiedMatching +OMIM:617030 myopathy, distal, 5 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching +OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:25930 semapv:UnspecifiedMatching +OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:PRPF38A semapv:UnspecifiedMatching +OMIM:617031 PRPF38A skos:exactMatch ncbigene:84950 semapv:UnspecifiedMatching +OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:26210 semapv:UnspecifiedMatching +OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:PGGHG semapv:UnspecifiedMatching +OMIM:617032 PGGHG skos:exactMatch ncbigene:80162 semapv:UnspecifiedMatching +OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:37073 semapv:UnspecifiedMatching +OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:CASTOR2 semapv:UnspecifiedMatching +OMIM:617033 CASTOR2 skos:exactMatch ncbigene:729438 semapv:UnspecifiedMatching +OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:34423 semapv:UnspecifiedMatching +OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:CASTOR1 semapv:UnspecifiedMatching +OMIM:617034 CASTOR1 skos:exactMatch ncbigene:652968 semapv:UnspecifiedMatching +OMIM:617035 patent ductus arteriosus 2 skos:exactMatch MONDO:0014878 semapv:UnspecifiedMatching +OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:16066 semapv:UnspecifiedMatching +OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:ACER3 semapv:UnspecifiedMatching +OMIM:617036 ACER3 skos:exactMatch ncbigene:55331 semapv:UnspecifiedMatching +OMIM:617037 NORAD skos:exactMatch hgnc.symbol:44311 semapv:UnspecifiedMatching +OMIM:617037 NORAD skos:exactMatch hgnc.symbol:NORAD semapv:UnspecifiedMatching +OMIM:617037 NORAD skos:exactMatch ncbigene:647979 semapv:UnspecifiedMatching +OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:50608 semapv:UnspecifiedMatching +OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:LINC01370 semapv:UnspecifiedMatching +OMIM:617038 LINC01370 skos:exactMatch ncbigene:100505663 semapv:UnspecifiedMatching +OMIM:617039 patent ductus arteriosus 3 skos:exactMatch MONDO:0024266 semapv:UnspecifiedMatching +OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:33921 semapv:UnspecifiedMatching +OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:MIR1231 semapv:UnspecifiedMatching +OMIM:617040 MIR1231 skos:exactMatch ncbigene:100302158 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch MONDO:0014880 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:529574 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch UMLS:C4310752 semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch UMLS:C1539620 semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:25697 semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:GSDMD semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch ncbigene:79792 semapv:UnspecifiedMatching +OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:21726 semapv:UnspecifiedMatching +OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:ARHGEF17 semapv:UnspecifiedMatching +OMIM:617043 ARHGEF17 skos:exactMatch ncbigene:9828 semapv:UnspecifiedMatching +OMIM:617044 short stature, developmental delay, and congenital heart defects skos:exactMatch MONDO:0014881 semapv:UnspecifiedMatching +OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:25883 semapv:UnspecifiedMatching +OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:ZNF703 semapv:UnspecifiedMatching +OMIM:617045 ZNF703 skos:exactMatch ncbigene:80139 semapv:UnspecifiedMatching +OMIM:617046 spastic paraplegia 77, autosomal recessive skos:exactMatch MONDO:0014882 semapv:UnspecifiedMatching +OMIM:617047 cardiomyopathy, familial hypertrophic, 26 skos:exactMatch MONDO:0014883 semapv:UnspecifiedMatching +OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:27030 semapv:UnspecifiedMatching +OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:DNAJC21 semapv:UnspecifiedMatching +OMIM:617048 DNAJC21 skos:exactMatch ncbigene:134218 semapv:UnspecifiedMatching +OMIM:617049 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch MONDO:0014884 semapv:UnspecifiedMatching +OMIM:617050 hermansky-pudlak syndrome 10 skos:exactMatch MONDO:0014885 semapv:UnspecifiedMatching +OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch MONDO:0014886 semapv:UnspecifiedMatching +OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch Orphanet:488627 semapv:UnspecifiedMatching +OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching +OMIM:617052 bone marrow failure syndrome 3 skos:exactMatch MONDO:0014887 semapv:UnspecifiedMatching +OMIM:617053 mirage syndrome skos:exactMatch MONDO:0014888 semapv:UnspecifiedMatching +OMIM:617053 mirage syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching +OMIM:617053 mirage syndrome skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching +OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch MONDO:0014889 semapv:UnspecifiedMatching +OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 semapv:UnspecifiedMatching +OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch UMLS:C4310743 semapv:UnspecifiedMatching +OMIM:617055 perching syndrome skos:exactMatch MONDO:0014890 semapv:UnspecifiedMatching +OMIM:617055 perching syndrome skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching +OMIM:617055 perching syndrome skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching +OMIM:617056 tubulointerstitial kidney disease, autosomal dominant, 5 skos:exactMatch MONDO:0014891 semapv:UnspecifiedMatching +OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:28005 semapv:UnspecifiedMatching +OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:CTU2 semapv:UnspecifiedMatching +OMIM:617057 CTU2 skos:exactMatch ncbigene:348180 semapv:UnspecifiedMatching +OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:14175 semapv:UnspecifiedMatching +OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:TSR3 semapv:UnspecifiedMatching +OMIM:617058 TSR3 skos:exactMatch ncbigene:115939 semapv:UnspecifiedMatching +OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:29313 semapv:UnspecifiedMatching +OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:ZDBF2 semapv:UnspecifiedMatching +OMIM:617059 ZDBF2 skos:exactMatch ncbigene:57683 semapv:UnspecifiedMatching +OMIM:617060 LCTL skos:exactMatch hgnc.symbol:15583 semapv:UnspecifiedMatching +OMIM:617060 LCTL skos:exactMatch hgnc.symbol:LCTL semapv:UnspecifiedMatching +OMIM:617060 LCTL skos:exactMatch ncbigene:197021 semapv:UnspecifiedMatching +OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch MONDO:0014892 semapv:UnspecifiedMatching +OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch Orphanet:476126 semapv:UnspecifiedMatching +OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching +OMIM:617062 okur-chung neurodevelopmental syndrome skos:exactMatch MONDO:0014893 semapv:UnspecifiedMatching +OMIM:617063 meier-gorlin syndrome 7 skos:exactMatch MONDO:0014894 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch UMLS:C1825432 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:25799 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:GUF1 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch ncbigene:60558 semapv:UnspecifiedMatching +OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch MONDO:0014895 semapv:UnspecifiedMatching +OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching +OMIM:617066 muscular dystrophy, congenital, davignon-chauveau iia skos:exactMatch MONDO:0014896 semapv:UnspecifiedMatching +OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:44208 semapv:UnspecifiedMatching +OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:LYPD8 semapv:UnspecifiedMatching +OMIM:617067 LYPD8 skos:exactMatch ncbigene:646627 semapv:UnspecifiedMatching +OMIM:617068 portal hypertension, noncirrhotic, 1 skos:exactMatch MONDO:8000013 semapv:UnspecifiedMatching +OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:exactMatch MONDO:0014898 semapv:UnspecifiedMatching +OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch MONDO:0014899 semapv:UnspecifiedMatching +OMIM:617072 myopathy, autosomal recessive, with rigid spine and distal joint contractures skos:exactMatch MONDO:0014900 semapv:UnspecifiedMatching +OMIM:617073 tooth agenesis, selective, 8 skos:exactMatch MONDO:0014901 semapv:UnspecifiedMatching +OMIM:617074 SMCR8 skos:exactMatch UMLS:C1425178 semapv:UnspecifiedMatching +OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:17921 semapv:UnspecifiedMatching +OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:SMCR8 semapv:UnspecifiedMatching +OMIM:617074 SMCR8 skos:exactMatch ncbigene:140775 semapv:UnspecifiedMatching +OMIM:617075 nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch MONDO:0014902 semapv:UnspecifiedMatching +OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:13949 semapv:UnspecifiedMatching +OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:FKBPL semapv:UnspecifiedMatching +OMIM:617076 FKBPL skos:exactMatch ncbigene:63943 semapv:UnspecifiedMatching +OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:29416 semapv:UnspecifiedMatching +OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:ZNF618 semapv:UnspecifiedMatching +OMIM:617077 ZNF618 skos:exactMatch ncbigene:114991 semapv:UnspecifiedMatching +OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:24450 semapv:UnspecifiedMatching +OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:DEDD2 semapv:UnspecifiedMatching +OMIM:617078 DEDD2 skos:exactMatch ncbigene:162989 semapv:UnspecifiedMatching +OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:44354 semapv:UnspecifiedMatching +OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:LINC00673 semapv:UnspecifiedMatching +OMIM:617079 LINC00673 skos:exactMatch ncbigene:100499467 semapv:UnspecifiedMatching +OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch MONDO:0014903 semapv:UnspecifiedMatching +OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching +OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch UMLS:C1538537 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:29661 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:OMA1 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch ncbigene:115209 semapv:UnspecifiedMatching +OMIM:617082 congenital disorder of glycosylation, iia iaa skos:exactMatch MONDO:0014904 semapv:UnspecifiedMatching +OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:24595 semapv:UnspecifiedMatching +OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:DYNC2LI1 semapv:UnspecifiedMatching +OMIM:617083 DYNC2LI1 skos:exactMatch ncbigene:51626 semapv:UnspecifiedMatching +OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:1239 semapv:UnspecifiedMatching +OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:TMEM59 semapv:UnspecifiedMatching +OMIM:617084 TMEM59 skos:exactMatch ncbigene:9528 semapv:UnspecifiedMatching +OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:33747 semapv:UnspecifiedMatching +OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:FIBIN semapv:UnspecifiedMatching +OMIM:617085 FIBIN skos:exactMatch ncbigene:387758 semapv:UnspecifiedMatching +OMIM:617086 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch MONDO:0014905 semapv:UnspecifiedMatching +OMIM:617087 charcot-marie-tooth disease, axonal, autosomal recessive, iia 2a2b skos:exactMatch MONDO:0014906 semapv:UnspecifiedMatching +OMIM:617088 short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch MONDO:0014907 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch UMLS:C1540228 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:24496 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:NEPRO semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch ncbigene:25871 semapv:UnspecifiedMatching +OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch MONDO:0014908 semapv:UnspecifiedMatching +OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch UMLS:C4310723 semapv:UnspecifiedMatching +OMIM:617091 ciliary dyskinesia, primary, 34 skos:exactMatch MONDO:0014909 semapv:UnspecifiedMatching +OMIM:617092 ciliary dyskinesia, primary, 35 skos:exactMatch MONDO:0014910 semapv:UnspecifiedMatching +OMIM:617093 growth retardation, impaired intellectual development, hypotonia, and hepatopathy skos:exactMatch MONDO:0014911 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch UMLS:C1825567 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch UMLS:C4310846 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch UMLS:C4310847 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:15901 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:IFT52 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch ncbigene:51098 semapv:UnspecifiedMatching +OMIM:617095 ODAD4 skos:exactMatch hgnc.symbol:25280 semapv:UnspecifiedMatching +OMIM:617095 ODAD4 skos:exactMatch hgnc.symbol:ODAD4 semapv:UnspecifiedMatching +OMIM:617095 ODAD4 skos:exactMatch ncbigene:83538 semapv:UnspecifiedMatching +OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:13237 semapv:UnspecifiedMatching +OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:TMEM59L semapv:UnspecifiedMatching +OMIM:617096 TMEM59L skos:exactMatch ncbigene:25789 semapv:UnspecifiedMatching +OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:37171 semapv:UnspecifiedMatching +OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:LINC01194 semapv:UnspecifiedMatching +OMIM:617097 LINC01194 skos:exactMatch ncbigene:404663 semapv:UnspecifiedMatching +OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:33911 semapv:UnspecifiedMatching +OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:RNASEK semapv:UnspecifiedMatching +OMIM:617098 RNASEK skos:exactMatch ncbigene:440400 semapv:UnspecifiedMatching +OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome skos:exactMatch MONDO:0014912 semapv:UnspecifiedMatching +OMIM:617100 familial adenomatous polyposis 4 skos:exactMatch MONDO:0044300 semapv:UnspecifiedMatching +OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin skos:exactMatch MONDO:0014914 semapv:UnspecifiedMatching +OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch MONDO:0014915 semapv:UnspecifiedMatching +OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching +OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch UMLS:C4310718 semapv:UnspecifiedMatching +OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:25821 semapv:UnspecifiedMatching +OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:ZNF668 semapv:UnspecifiedMatching +OMIM:617103 ZNF668 skos:exactMatch ncbigene:79759 semapv:UnspecifiedMatching +OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:23786 semapv:UnspecifiedMatching +OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:PIP4K2C semapv:UnspecifiedMatching +OMIM:617104 PIP4K2C skos:exactMatch ncbigene:79837 semapv:UnspecifiedMatching +OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch MONDO:0014916 semapv:UnspecifiedMatching +OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching +OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch MONDO:0014917 semapv:UnspecifiedMatching +OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching +OMIM:617107 thauvin-robinet-faivre syndrome skos:exactMatch MONDO:0014918 semapv:UnspecifiedMatching +OMIM:617108 sessile serrated polyposis cancer syndrome skos:exactMatch MONDO:0014919 semapv:UnspecifiedMatching +OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:24050 semapv:UnspecifiedMatching +OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:CREBRF semapv:UnspecifiedMatching +OMIM:617109 CREBRF skos:exactMatch ncbigene:153222 semapv:UnspecifiedMatching +OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:25740 semapv:UnspecifiedMatching +OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:CEP78 semapv:UnspecifiedMatching +OMIM:617110 CEP78 skos:exactMatch ncbigene:84131 semapv:UnspecifiedMatching +OMIM:617111 macular dystrophy, patterned, 3 skos:exactMatch MONDO:0014920 semapv:UnspecifiedMatching +OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:29110 semapv:UnspecifiedMatching +OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:KIAA0753 semapv:UnspecifiedMatching +OMIM:617112 KIAA0753 skos:exactMatch ncbigene:9851 semapv:UnspecifiedMatching +OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch MONDO:0014921 semapv:UnspecifiedMatching +OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching +OMIM:617114 myopathy, myofibrillar, 7 skos:exactMatch MONDO:0014922 semapv:UnspecifiedMatching +OMIM:617115 peeling skin syndrome 5 skos:exactMatch MONDO:0014923 semapv:UnspecifiedMatching +OMIM:617116 epilepsy, familial focal, with variable foci 2 skos:exactMatch MONDO:0014924 semapv:UnspecifiedMatching +OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:28609 semapv:UnspecifiedMatching +OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:LINC00663 semapv:UnspecifiedMatching +OMIM:617117 LINC00663 skos:exactMatch ncbigene:284440 semapv:UnspecifiedMatching +OMIM:617118 epilepsy, familial focal, with variable foci 3 skos:exactMatch MONDO:0014925 semapv:UnspecifiedMatching +OMIM:617119 bardet-biedl syndrome 22 skos:exactMatch MONDO:0014926 semapv:UnspecifiedMatching +OMIM:617120 joubert syndrome 27 skos:exactMatch MONDO:0014927 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch MONDO:0014928 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:220493 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching +OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:39839 semapv:UnspecifiedMatching +OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:PCOTH semapv:UnspecifiedMatching +OMIM:617122 C1QTNF9BAS1 skos:exactMatch ncbigene:542767 semapv:UnspecifiedMatching +OMIM:617123 retinitis pigmentosa 76 skos:exactMatch MONDO:0014929 semapv:UnspecifiedMatching +OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:26518 semapv:UnspecifiedMatching +OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:PM20D1 semapv:UnspecifiedMatching +OMIM:617124 PM20D1 skos:exactMatch ncbigene:148811 semapv:UnspecifiedMatching +OMIM:617125 intellectual developmental disorder, autosomal recessive 56 skos:exactMatch MONDO:0014930 semapv:UnspecifiedMatching +OMIM:617126 alazami-yuan syndrome skos:exactMatch MONDO:0014931 semapv:UnspecifiedMatching +OMIM:617127 orofaciodigital syndrome 15 skos:exactMatch MONDO:0014932 semapv:UnspecifiedMatching +OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:33753 semapv:UnspecifiedMatching +OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:INSYN1 semapv:UnspecifiedMatching +OMIM:617128 INSYN1 skos:exactMatch ncbigene:388135 semapv:UnspecifiedMatching +OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:33859 semapv:UnspecifiedMatching +OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:INSYN2A semapv:UnspecifiedMatching +OMIM:617129 INSYN2A skos:exactMatch ncbigene:642938 semapv:UnspecifiedMatching +OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:27441 semapv:UnspecifiedMatching +OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:MAJIN semapv:UnspecifiedMatching +OMIM:617130 MAJIN skos:exactMatch ncbigene:283129 semapv:UnspecifiedMatching +OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:28520 semapv:UnspecifiedMatching +OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:TERB2 semapv:UnspecifiedMatching +OMIM:617131 TERB2 skos:exactMatch ncbigene:145645 semapv:UnspecifiedMatching +OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch MONDO:0014933 semapv:UnspecifiedMatching +OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching +OMIM:617133 spinocerebellar ataxia, autosomal recessive 24 skos:exactMatch MONDO:0014934 semapv:UnspecifiedMatching +OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:20329 semapv:UnspecifiedMatching +OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:TMCO3 semapv:UnspecifiedMatching +OMIM:617134 TMCO3 skos:exactMatch ncbigene:55002 semapv:UnspecifiedMatching +OMIM:617135 L3MBTL4 skos:exactMatch UMLS:C1537515 semapv:UnspecifiedMatching +OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:26677 semapv:UnspecifiedMatching +OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:L3MBTL4 semapv:UnspecifiedMatching +OMIM:617135 L3MBTL4 skos:exactMatch ncbigene:91133 semapv:UnspecifiedMatching +OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:52289 semapv:UnspecifiedMatching +OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:TFAP2A-AS2 semapv:UnspecifiedMatching +OMIM:617136 TFAP2AAS2 skos:exactMatch ncbigene:109729173 semapv:UnspecifiedMatching +OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch MONDO:0014935 semapv:UnspecifiedMatching +OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch Orphanet:1826 semapv:UnspecifiedMatching +OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch UMLS:C4310697 semapv:UnspecifiedMatching +OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:32695 semapv:UnspecifiedMatching +OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:SKOR2 semapv:UnspecifiedMatching +OMIM:617138 SKOR2 skos:exactMatch ncbigene:652991 semapv:UnspecifiedMatching +OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:34447 semapv:UnspecifiedMatching +OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:LGALS7B semapv:UnspecifiedMatching +OMIM:617139 LGALS7B skos:exactMatch ncbigene:653499 semapv:UnspecifiedMatching +OMIM:617140 zttk syndrome skos:exactMatch MONDO:0014936 semapv:UnspecifiedMatching +OMIM:617141 aniridia 2 skos:exactMatch MONDO:0014937 semapv:UnspecifiedMatching +OMIM:617142 aniridia 3 skos:exactMatch MONDO:0014938 semapv:UnspecifiedMatching +OMIM:617143 myasthenic syndrome, congenital, 20, presynaptic skos:exactMatch MONDO:0014939 semapv:UnspecifiedMatching +OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:35163 semapv:UnspecifiedMatching +OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:MIR4435-2HG semapv:UnspecifiedMatching +OMIM:617144 MIR4435-2HG skos:exactMatch ncbigene:541471 semapv:UnspecifiedMatching +OMIM:617145 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch MONDO:0014940 semapv:UnspecifiedMatching +OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch MONDO:0014941 semapv:UnspecifiedMatching +OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch UMLS:C4310692 semapv:UnspecifiedMatching +OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:25766 semapv:UnspecifiedMatching +OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:CCDC14 semapv:UnspecifiedMatching +OMIM:617147 CCDC14 skos:exactMatch ncbigene:64770 semapv:UnspecifiedMatching +OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:26344 semapv:UnspecifiedMatching +OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:DEUP1 semapv:UnspecifiedMatching +OMIM:617148 DEUP1 skos:exactMatch ncbigene:159989 semapv:UnspecifiedMatching +OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:26435 semapv:UnspecifiedMatching +OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:CEP20 semapv:UnspecifiedMatching +OMIM:617149 CEP20 skos:exactMatch ncbigene:123811 semapv:UnspecifiedMatching +OMIM:617150 ZDHHC3 skos:exactMatch hgnc.symbol:18470 semapv:UnspecifiedMatching +OMIM:617150 ZDHHC3 skos:exactMatch hgnc.symbol:ZDHHC3 semapv:UnspecifiedMatching +OMIM:617150 ZDHHC3 skos:exactMatch ncbigene:51304 semapv:UnspecifiedMatching +OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:33543 semapv:UnspecifiedMatching +OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:SULT1C3 semapv:UnspecifiedMatching +OMIM:617151 SULT1C3 skos:exactMatch ncbigene:442038 semapv:UnspecifiedMatching +OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:33433 semapv:UnspecifiedMatching +OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:SULT6B1 semapv:UnspecifiedMatching +OMIM:617152 SULT6B1 skos:exactMatch ncbigene:391365 semapv:UnspecifiedMatching +OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch MONDO:0014942 semapv:UnspecifiedMatching +OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching +OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:30817 semapv:UnspecifiedMatching +OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:MRNIP semapv:UnspecifiedMatching +OMIM:617154 MRNIP skos:exactMatch ncbigene:51149 semapv:UnspecifiedMatching +OMIM:617155 ST18 skos:exactMatch hgnc.symbol:18695 semapv:UnspecifiedMatching +OMIM:617155 ST18 skos:exactMatch hgnc.symbol:ST18 semapv:UnspecifiedMatching +OMIM:617155 ST18 skos:exactMatch ncbigene:9705 semapv:UnspecifiedMatching +OMIM:617156 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch MONDO:0014943 semapv:UnspecifiedMatching +OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch MONDO:0014944 semapv:UnspecifiedMatching +OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching +OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching +OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch MONDO:0014945 semapv:UnspecifiedMatching +OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch Orphanet:602 semapv:UnspecifiedMatching +OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch UMLS:C5399975 semapv:UnspecifiedMatching +OMIM:617159 sifrim-hitz-weiss syndrome skos:exactMatch MONDO:0014946 semapv:UnspecifiedMatching +OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:20685 semapv:UnspecifiedMatching +OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:PROM2 semapv:UnspecifiedMatching +OMIM:617160 PROM2 skos:exactMatch ncbigene:150696 semapv:UnspecifiedMatching +OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:28283 semapv:UnspecifiedMatching +OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:GSG1L semapv:UnspecifiedMatching +OMIM:617161 GSG1L skos:exactMatch ncbigene:146395 semapv:UnspecifiedMatching +OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch MONDO:0014947 semapv:UnspecifiedMatching +OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching +OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:25978 semapv:UnspecifiedMatching +OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:RNF186 semapv:UnspecifiedMatching +OMIM:617163 RNF186 skos:exactMatch ncbigene:54546 semapv:UnspecifiedMatching +OMIM:617164 short stature-micrognathia syndrome skos:exactMatch MONDO:0014948 semapv:UnspecifiedMatching +OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:28651 semapv:UnspecifiedMatching +OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:PRXL2A semapv:UnspecifiedMatching +OMIM:617165 FAM213A skos:exactMatch ncbigene:84293 semapv:UnspecifiedMatching +OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch MONDO:0014949 semapv:UnspecifiedMatching +OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching +OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:26607 semapv:UnspecifiedMatching +OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:SLC35G1 semapv:UnspecifiedMatching +OMIM:617167 SLC35G1 skos:exactMatch ncbigene:159371 semapv:UnspecifiedMatching +OMIM:617168 aortic aneurysm, familial thoracic 10 skos:exactMatch MONDO:0014950 semapv:UnspecifiedMatching +OMIM:617169 intellectual developmental disorder, autosomal recessive 74 skos:exactMatch MONDO:0014951 semapv:UnspecifiedMatching +OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:10664 semapv:UnspecifiedMatching +OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:CWC27 semapv:UnspecifiedMatching +OMIM:617170 CWC27 skos:exactMatch ncbigene:10283 semapv:UnspecifiedMatching +OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch MONDO:0014952 semapv:UnspecifiedMatching +OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching +OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching +OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:33100 semapv:UnspecifiedMatching +OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:GPX8 semapv:UnspecifiedMatching +OMIM:617172 GPX8 skos:exactMatch ncbigene:493869 semapv:UnspecifiedMatching +OMIM:617173 lodder-merla syndrome, iia 1, with impaired intellectual development and cardiac arrhythmia skos:exactMatch MONDO:0014953 semapv:UnspecifiedMatching +OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 skos:exactMatch MONDO:0014954 semapv:UnspecifiedMatching +OMIM:617175 retinal dystrophy with or without extraocular anomalies skos:exactMatch MONDO:0014955 semapv:UnspecifiedMatching +OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:38332 semapv:UnspecifiedMatching +OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:MIR4271 semapv:UnspecifiedMatching +OMIM:617176 MIR4271 skos:exactMatch ncbigene:100422952 semapv:UnspecifiedMatching +OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:29825 semapv:UnspecifiedMatching +OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:MYL10 semapv:UnspecifiedMatching +OMIM:617177 MYL10 skos:exactMatch ncbigene:93408 semapv:UnspecifiedMatching +OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:28856 semapv:UnspecifiedMatching +OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:RNF166 semapv:UnspecifiedMatching +OMIM:617178 RNF166 skos:exactMatch ncbigene:115992 semapv:UnspecifiedMatching +OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:44048 semapv:UnspecifiedMatching +OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:PANDAR semapv:UnspecifiedMatching +OMIM:617179 PANDAR skos:exactMatch ncbigene:101154753 semapv:UnspecifiedMatching +OMIM:617180 chitayat syndrome skos:exactMatch MONDO:0014956 semapv:UnspecifiedMatching +OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:22998 semapv:UnspecifiedMatching +OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:TMC4 semapv:UnspecifiedMatching +OMIM:617181 TMC4 skos:exactMatch ncbigene:147798 semapv:UnspecifiedMatching +OMIM:617182 lodder-merla syndrome, iia 2, with developmental delay and with or without cardiac arrhythmia skos:exactMatch MONDO:0014957 semapv:UnspecifiedMatching +OMIM:617183 harel-yoon syndrome skos:exactMatch MONDO:0014958 semapv:UnspecifiedMatching +OMIM:617183 harel-yoon syndrome skos:exactMatch Orphanet:496790 semapv:UnspecifiedMatching +OMIM:617183 harel-yoon syndrome skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching +OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant skos:exactMatch MONDO:0014959 semapv:UnspecifiedMatching +OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching +OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:25857 semapv:UnspecifiedMatching +OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:NSUN7 semapv:UnspecifiedMatching +OMIM:617185 NSUN7 skos:exactMatch ncbigene:79730 semapv:UnspecifiedMatching +OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch MONDO:0020781 semapv:UnspecifiedMatching +OMIM:617187 spermatogenic failure 16 skos:exactMatch MONDO:0014961 semapv:UnspecifiedMatching +OMIM:617188 intellectual developmental disorder, autosomal recessive 57 skos:exactMatch MONDO:0014962 semapv:UnspecifiedMatching +OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:30526 semapv:UnspecifiedMatching +OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:STIMATE semapv:UnspecifiedMatching +OMIM:617189 TMEM110 skos:exactMatch ncbigene:375346 semapv:UnspecifiedMatching +OMIM:617190 shashi-pena syndrome skos:exactMatch MONDO:0014963 semapv:UnspecifiedMatching +OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:19725 semapv:UnspecifiedMatching +OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:PICSAR semapv:UnspecifiedMatching +OMIM:617191 PICSAR skos:exactMatch ncbigene:378825 semapv:UnspecifiedMatching +OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:22223 semapv:UnspecifiedMatching +OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:EEPD1 semapv:UnspecifiedMatching +OMIM:617192 EEPD1 skos:exactMatch ncbigene:80820 semapv:UnspecifiedMatching +OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch MONDO:0044646 semapv:UnspecifiedMatching +OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch Orphanet:496641 semapv:UnspecifiedMatching +OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch UMLS:C4310671 semapv:UnspecifiedMatching +OMIM:617194 lethal congenital contracture syndrome 11 skos:exactMatch MONDO:0014965 semapv:UnspecifiedMatching +OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:22144 semapv:UnspecifiedMatching +OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:MUSTN1 semapv:UnspecifiedMatching +OMIM:617195 MUSTN1 skos:exactMatch ncbigene:389125 semapv:UnspecifiedMatching +OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:22995 semapv:UnspecifiedMatching +OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:TMC3 semapv:UnspecifiedMatching +OMIM:617196 TMC3 skos:exactMatch ncbigene:342125 semapv:UnspecifiedMatching +OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:22999 semapv:UnspecifiedMatching +OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:TMC5 semapv:UnspecifiedMatching +OMIM:617197 TMC5 skos:exactMatch ncbigene:79838 semapv:UnspecifiedMatching +OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:23000 semapv:UnspecifiedMatching +OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:TMC7 semapv:UnspecifiedMatching +OMIM:617198 TMC7 skos:exactMatch ncbigene:79905 semapv:UnspecifiedMatching +OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:23529 semapv:UnspecifiedMatching +OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:NSUN6 semapv:UnspecifiedMatching +OMIM:617199 NSUN6 skos:exactMatch ncbigene:221078 semapv:UnspecifiedMatching +OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:20707 semapv:UnspecifiedMatching +OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:OPALIN semapv:UnspecifiedMatching +OMIM:617200 OPALIN skos:exactMatch ncbigene:93377 semapv:UnspecifiedMatching +OMIM:617201 periventricular nodular heterotopia 7 skos:exactMatch MONDO:0014966 semapv:UnspecifiedMatching +OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:32448 semapv:UnspecifiedMatching +OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:FOXI2 semapv:UnspecifiedMatching +OMIM:617202 FOXI2 skos:exactMatch ncbigene:399823 semapv:UnspecifiedMatching +OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:25913 semapv:UnspecifiedMatching +OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:TMEM87B semapv:UnspecifiedMatching +OMIM:617203 TMEM87B skos:exactMatch ncbigene:84910 semapv:UnspecifiedMatching +OMIM:617204 VMAC skos:exactMatch hgnc.symbol:33803 semapv:UnspecifiedMatching +OMIM:617204 VMAC skos:exactMatch hgnc.symbol:VMAC semapv:UnspecifiedMatching +OMIM:617204 VMAC skos:exactMatch ncbigene:400673 semapv:UnspecifiedMatching +OMIM:617205 heterotaxy, visceral, 8, autosomal skos:exactMatch MONDO:0014967 semapv:UnspecifiedMatching +OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:25162 semapv:UnspecifiedMatching +OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:NEURL3 semapv:UnspecifiedMatching +OMIM:617206 NEURL3 skos:exactMatch ncbigene:93082 semapv:UnspecifiedMatching +OMIM:617207 encephalopathy, progressive, with amyotrophy and optic atrophy skos:exactMatch MONDO:0014968 semapv:UnspecifiedMatching +OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:24083 semapv:UnspecifiedMatching +OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:MAMDC4 semapv:UnspecifiedMatching +OMIM:617208 MAMDC4 skos:exactMatch ncbigene:158056 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch UMLS:C1427248 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:21020 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:QRSL1 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch ncbigene:55278 semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch UMLS:C2239482 semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch hgnc.symbol:25068 semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch hgnc.symbol:GATC semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch ncbigene:283459 semapv:UnspecifiedMatching +OMIM:617211 DMKN skos:exactMatch hgnc.symbol:25063 semapv:UnspecifiedMatching +OMIM:617211 DMKN skos:exactMatch hgnc.symbol:DMKN semapv:UnspecifiedMatching +OMIM:617211 DMKN skos:exactMatch ncbigene:93099 semapv:UnspecifiedMatching +OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:16313 semapv:UnspecifiedMatching +OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:KRTDAP semapv:UnspecifiedMatching +OMIM:617212 KRTDAP skos:exactMatch ncbigene:388533 semapv:UnspecifiedMatching +OMIM:617213 sedoheptulokinase deficiency skos:exactMatch MONDO:0014969 semapv:UnspecifiedMatching +OMIM:617214 spermatogenic failure 17 skos:exactMatch MONDO:0014970 semapv:UnspecifiedMatching +OMIM:617214 spermatogenic failure 17 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching +OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:28737 semapv:UnspecifiedMatching +OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:C17orf49 semapv:UnspecifiedMatching +OMIM:617215 C17ORF49 skos:exactMatch ncbigene:124944 semapv:UnspecifiedMatching +OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:20649 semapv:UnspecifiedMatching +OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:ZNF420 semapv:UnspecifiedMatching +OMIM:617216 ZNF420 skos:exactMatch ncbigene:147923 semapv:UnspecifiedMatching +OMIM:617217 amelogenesis imperfecta, hypomaturation type, iia6 skos:exactMatch MONDO:0014971 semapv:UnspecifiedMatching +OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:26899 semapv:UnspecifiedMatching +OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:TMTC3 semapv:UnspecifiedMatching +OMIM:617218 TMTC3 skos:exactMatch ncbigene:160418 semapv:UnspecifiedMatching +OMIM:617219 chromosome 19q13.11 deletion syndrome, proximal skos:exactMatch MONDO:0014972 semapv:UnspecifiedMatching +OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:26162 semapv:UnspecifiedMatching +OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:PYROXD1 semapv:UnspecifiedMatching +OMIM:617220 PYROXD1 skos:exactMatch ncbigene:79912 semapv:UnspecifiedMatching +OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:23302 semapv:UnspecifiedMatching +OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:HKDC1 semapv:UnspecifiedMatching +OMIM:617221 HKDC1 skos:exactMatch ncbigene:80201 semapv:UnspecifiedMatching +OMIM:617222 sudden cardiac failure, infantile skos:exactMatch MONDO:0014973 semapv:UnspecifiedMatching +OMIM:617223 sudden cardiac failure, alcohol-induced skos:exactMatch MONDO:0014974 semapv:UnspecifiedMatching +OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:27475 semapv:UnspecifiedMatching +OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:GAS2L3 semapv:UnspecifiedMatching +OMIM:617224 GAS2L3 skos:exactMatch ncbigene:283431 semapv:UnspecifiedMatching +OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch MONDO:0014975 semapv:UnspecifiedMatching +OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch Orphanet:513436 semapv:UnspecifiedMatching +OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching +OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:19840 semapv:UnspecifiedMatching +OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:MAPK1IP1L semapv:UnspecifiedMatching +OMIM:617226 MAPK1IP1L skos:exactMatch ncbigene:93487 semapv:UnspecifiedMatching +OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:32151 semapv:UnspecifiedMatching +OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:ATAD3C semapv:UnspecifiedMatching +OMIM:617227 ATAD3C skos:exactMatch ncbigene:219293 semapv:UnspecifiedMatching +OMIM:617228 combined oxidative phosphorylation deficiency 31 skos:exactMatch MONDO:0014976 semapv:UnspecifiedMatching +OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:31860 semapv:UnspecifiedMatching +OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:FAM53A semapv:UnspecifiedMatching +OMIM:617229 FAM53A skos:exactMatch ncbigene:152877 semapv:UnspecifiedMatching +OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:23328 semapv:UnspecifiedMatching +OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:ZFP1 semapv:UnspecifiedMatching +OMIM:617230 ZFP1 skos:exactMatch ncbigene:162239 semapv:UnspecifiedMatching +OMIM:617231 LHPP skos:exactMatch hgnc.symbol:30042 semapv:UnspecifiedMatching +OMIM:617231 LHPP skos:exactMatch hgnc.symbol:LHPP semapv:UnspecifiedMatching +OMIM:617231 LHPP skos:exactMatch ncbigene:64077 semapv:UnspecifiedMatching +OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 skos:exactMatch MONDO:0014977 semapv:UnspecifiedMatching +OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:25495 semapv:UnspecifiedMatching +OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:WDR70 semapv:UnspecifiedMatching +OMIM:617233 WDR70 skos:exactMatch ncbigene:55100 semapv:UnspecifiedMatching +OMIM:617234 oocyte/zygote/embryo maturation arrest 16 skos:exactMatch MONDO:0014978 semapv:UnspecifiedMatching +OMIM:617235 myoclonus, intractable, neonatal skos:exactMatch MONDO:0014979 semapv:UnspecifiedMatching +OMIM:617236 cone-rod dystrophy and hearing loss 1 skos:exactMatch MONDO:0020778 semapv:UnspecifiedMatching +OMIM:617237 immunodeficiency 49 skos:exactMatch MONDO:0014981 semapv:UnspecifiedMatching +OMIM:617238 myopia 25, autosomal dominant skos:exactMatch MONDO:0014982 semapv:UnspecifiedMatching +OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic skos:exactMatch MONDO:0014983 semapv:UnspecifiedMatching +OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:48872 semapv:UnspecifiedMatching +OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:HAND2-AS1 semapv:UnspecifiedMatching +OMIM:617240 HAND2AS1 skos:exactMatch ncbigene:79804 semapv:UnspecifiedMatching +OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome skos:exactMatch MONDO:0014984 semapv:UnspecifiedMatching +OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch UMLS:C2828772 semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch hgnc.symbol:27365 semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch hgnc.symbol:TECRL semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch ncbigene:253017 semapv:UnspecifiedMatching +OMIM:617243 fanconi anemia, complementation group 5 skos:exactMatch MONDO:0014985 semapv:UnspecifiedMatching +OMIM:617244 fanconi anemia, complementation group r skos:exactMatch MONDO:0014986 semapv:UnspecifiedMatching +OMIM:617244 fanconi anemia, complementation group r skos:exactMatch Orphanet:84 semapv:UnspecifiedMatching +OMIM:617244 fanconi anemia, complementation group r skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching +OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:29853 semapv:UnspecifiedMatching +OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:HECW2 semapv:UnspecifiedMatching +OMIM:617245 HECW2 skos:exactMatch ncbigene:57520 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch UMLS:C1826473 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch UMLS:C4310647 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:26513 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:NSMCE2 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch ncbigene:286053 semapv:UnspecifiedMatching +OMIM:617247 fanconi anemia, complementation group u skos:exactMatch MONDO:0014987 semapv:UnspecifiedMatching +OMIM:617248 3-methylglutaconic aciduria, iia 8 skos:exactMatch MONDO:0044723 semapv:UnspecifiedMatching +OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:23490 semapv:UnspecifiedMatching +OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:PABIR1 semapv:UnspecifiedMatching +OMIM:617249 FAM122A skos:exactMatch ncbigene:116224 semapv:UnspecifiedMatching +OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:31922 semapv:UnspecifiedMatching +OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:ERC2 semapv:UnspecifiedMatching +OMIM:617250 ERC2 skos:exactMatch ncbigene:26059 semapv:UnspecifiedMatching +OMIM:617251 uncombable hair syndrome 2 skos:exactMatch MONDO:0014989 semapv:UnspecifiedMatching +OMIM:617252 uncombable hair syndrome 3 skos:exactMatch MONDO:0014990 semapv:UnspecifiedMatching +OMIM:617253 seckel syndrome 10 skos:exactMatch MONDO:0014991 semapv:UnspecifiedMatching +OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:26683 semapv:UnspecifiedMatching +OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:LMNTD1 semapv:UnspecifiedMatching +OMIM:617254 LMNTD1 skos:exactMatch ncbigene:160492 semapv:UnspecifiedMatching +OMIM:617255 lissencephaly 8 skos:exactMatch MONDO:0014992 semapv:UnspecifiedMatching +OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:23092 semapv:UnspecifiedMatching +OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:SLC7A13 semapv:UnspecifiedMatching +OMIM:617256 SLC7A13 skos:exactMatch ncbigene:157724 semapv:UnspecifiedMatching +OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:27648 semapv:UnspecifiedMatching +OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:SPATA46 semapv:UnspecifiedMatching +OMIM:617257 SPATA46 skos:exactMatch ncbigene:284680 semapv:UnspecifiedMatching +OMIM:617258 myopathy, myofibrillar, 8 skos:exactMatch MONDO:0014993 semapv:UnspecifiedMatching +OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:30911 semapv:UnspecifiedMatching +OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:DCAF1 semapv:UnspecifiedMatching +OMIM:617259 DCAF1 skos:exactMatch ncbigene:9730 semapv:UnspecifiedMatching +OMIM:617260 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies skos:exactMatch MONDO:0014994 semapv:UnspecifiedMatching +OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:30536 semapv:UnspecifiedMatching +OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:DMAC1 semapv:UnspecifiedMatching +OMIM:617261 TMEM261 skos:exactMatch ncbigene:90871 semapv:UnspecifiedMatching +OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:25496 semapv:UnspecifiedMatching +OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:DMAC2 semapv:UnspecifiedMatching +OMIM:617262 ATP5SL skos:exactMatch ncbigene:55101 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch UMLS:C1538488 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:29897 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:NSMCE1 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch ncbigene:197370 semapv:UnspecifiedMatching +OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:30403 semapv:UnspecifiedMatching +OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:SCAF1 semapv:UnspecifiedMatching +OMIM:617264 SCAF1 skos:exactMatch ncbigene:58506 semapv:UnspecifiedMatching +OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:22401 semapv:UnspecifiedMatching +OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:KCTD9 semapv:UnspecifiedMatching +OMIM:617265 KCTD9 skos:exactMatch ncbigene:54793 semapv:UnspecifiedMatching +OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:28532 semapv:UnspecifiedMatching +OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:KIAA0825 semapv:UnspecifiedMatching +OMIM:617266 KIAA0825 skos:exactMatch ncbigene:285600 semapv:UnspecifiedMatching +OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:26198 semapv:UnspecifiedMatching +OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:MAIP1 semapv:UnspecifiedMatching +OMIM:617267 MAIP1 skos:exactMatch ncbigene:79568 semapv:UnspecifiedMatching +OMIM:617268 neurodevelopmental disorder with hypotonia, seizures, and absent language skos:exactMatch MONDO:0014995 semapv:UnspecifiedMatching +OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:27054 semapv:UnspecifiedMatching +OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:SOCS2-AS1 semapv:UnspecifiedMatching +OMIM:617269 SOCS2AS1 skos:exactMatch ncbigene:144481 semapv:UnspecifiedMatching +OMIM:617270 intellectual developmental disorder, autosomal recessive 58 skos:exactMatch MONDO:0014996 semapv:UnspecifiedMatching +OMIM:617271 nephronophthisis 20 skos:exactMatch MONDO:0014997 semapv:UnspecifiedMatching +OMIM:617272 glaucoma 3, primary congenital, e skos:exactMatch MONDO:0014998 semapv:UnspecifiedMatching +OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:30452 semapv:UnspecifiedMatching +OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:CIBAR1 semapv:UnspecifiedMatching +OMIM:617273 CIBAR1 skos:exactMatch ncbigene:137392 semapv:UnspecifiedMatching +OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:24781 semapv:UnspecifiedMatching +OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:CIBAR2 semapv:UnspecifiedMatching +OMIM:617274 CIBAR2 skos:exactMatch ncbigene:339145 semapv:UnspecifiedMatching +OMIM:617275 tooth agenesis, selective, 9 skos:exactMatch MONDO:0014999 semapv:UnspecifiedMatching +OMIM:617275 tooth agenesis, selective, 9 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching +OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch MONDO:0015000 semapv:UnspecifiedMatching +OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching +OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:26532 semapv:UnspecifiedMatching +OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:DNHD1 semapv:UnspecifiedMatching +OMIM:617277 DNHD1 skos:exactMatch ncbigene:144132 semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch UMLS:C1426178 semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:19344 semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:DENND5A semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch ncbigene:23258 semapv:UnspecifiedMatching +OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:28338 semapv:UnspecifiedMatching +OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:DENND5B semapv:UnspecifiedMatching +OMIM:617279 DENND5B skos:exactMatch ncbigene:160518 semapv:UnspecifiedMatching +OMIM:617280 atrial fibrillation, familial, 18 skos:exactMatch MONDO:0015001 semapv:UnspecifiedMatching +OMIM:617281 developmental and epileptic encephalopathy 49 skos:exactMatch MONDO:0015002 semapv:UnspecifiedMatching +OMIM:617281 developmental and epileptic encephalopathy 49 skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching +OMIM:617282 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch MONDO:0015003 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch UMLS:C1823897 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:30626 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:YTHDC1 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch ncbigene:91746 semapv:UnspecifiedMatching +OMIM:617284 dystonia 28, childhood-onset skos:exactMatch MONDO:0015004 semapv:UnspecifiedMatching +OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:24954 semapv:UnspecifiedMatching +OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:HMGB4 semapv:UnspecifiedMatching +OMIM:617285 HMGB4 skos:exactMatch ncbigene:127540 semapv:UnspecifiedMatching +OMIM:617286 PANCR skos:exactMatch hgnc.symbol:52282 semapv:UnspecifiedMatching +OMIM:617286 PANCR skos:exactMatch hgnc.symbol:PANCR semapv:UnspecifiedMatching +OMIM:617286 PANCR skos:exactMatch ncbigene:110231149 semapv:UnspecifiedMatching +OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:31703 semapv:UnspecifiedMatching +OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:PLPPR5 semapv:UnspecifiedMatching +OMIM:617287 PLPPR5 skos:exactMatch ncbigene:163404 semapv:UnspecifiedMatching +OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:24643 semapv:UnspecifiedMatching +OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:SPINK7 semapv:UnspecifiedMatching +OMIM:617288 SPINK7 skos:exactMatch ncbigene:84651 semapv:UnspecifiedMatching +OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:28968 semapv:UnspecifiedMatching +OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:FAM53B semapv:UnspecifiedMatching +OMIM:617289 FAM53B skos:exactMatch ncbigene:9679 semapv:UnspecifiedMatching +OMIM:617290 epilepsy, early-onset, 1, vitamin b6-dependent skos:exactMatch MONDO:0015005 semapv:UnspecifiedMatching +OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:34415 semapv:UnspecifiedMatching +OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:TMEM150B semapv:UnspecifiedMatching +OMIM:617291 TMEM150B skos:exactMatch ncbigene:284417 semapv:UnspecifiedMatching +OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:37263 semapv:UnspecifiedMatching +OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:TMEM150C semapv:UnspecifiedMatching +OMIM:617292 TMEM150C skos:exactMatch ncbigene:441027 semapv:UnspecifiedMatching +OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:7542 semapv:UnspecifiedMatching +OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:MXRA8 semapv:UnspecifiedMatching +OMIM:617293 MXRA8 skos:exactMatch ncbigene:54587 semapv:UnspecifiedMatching +OMIM:617294 epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy skos:exactMatch MONDO:0015006 semapv:UnspecifiedMatching +OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:30286 semapv:UnspecifiedMatching +OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:RUNDC3B semapv:UnspecifiedMatching +OMIM:617295 RUNDC3B skos:exactMatch ncbigene:154661 semapv:UnspecifiedMatching +OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:exactMatch MONDO:0015007 semapv:UnspecifiedMatching +OMIM:617297 amelogenesis imperfecta, iia 1j skos:exactMatch MONDO:0015008 semapv:UnspecifiedMatching +OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:26398 semapv:UnspecifiedMatching +OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:AIFM3 semapv:UnspecifiedMatching +OMIM:617298 AIFM3 skos:exactMatch ncbigene:150209 semapv:UnspecifiedMatching +OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:28641 semapv:UnspecifiedMatching +OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:RPAIN semapv:UnspecifiedMatching +OMIM:617299 RPAIN skos:exactMatch ncbigene:84268 semapv:UnspecifiedMatching +OMIM:617300 lymphatic malformation 7 skos:exactMatch MONDO:0015009 semapv:UnspecifiedMatching +OMIM:617300 lymphatic malformation 7 skos:exactMatch UMLS:C4310629 semapv:UnspecifiedMatching +OMIM:617301 glycine encephalopathy with normal serum glycine skos:exactMatch MONDO:0015010 semapv:UnspecifiedMatching +OMIM:617302 optic atrophy 11 skos:exactMatch MONDO:0015011 semapv:UnspecifiedMatching +OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch MONDO:0015012 semapv:UnspecifiedMatching +OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching +OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching +OMIM:617304 retinitis pigmentosa 77 skos:exactMatch MONDO:0015013 semapv:UnspecifiedMatching +OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:33391 semapv:UnspecifiedMatching +OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:CALHM6 semapv:UnspecifiedMatching +OMIM:617305 FAM26F skos:exactMatch ncbigene:441168 semapv:UnspecifiedMatching +OMIM:617306 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch MONDO:0015014 semapv:UnspecifiedMatching +OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:19849 semapv:UnspecifiedMatching +OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:C14orf39 semapv:UnspecifiedMatching +OMIM:617307 C14ORF39 skos:exactMatch ncbigene:317761 semapv:UnspecifiedMatching +OMIM:617308 bile acid synthesis defect, congenital, 6 skos:exactMatch MONDO:0015015 semapv:UnspecifiedMatching +OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:24607 semapv:UnspecifiedMatching +OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:IGFN1 semapv:UnspecifiedMatching +OMIM:617309 IGFN1 skos:exactMatch ncbigene:91156 semapv:UnspecifiedMatching +OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:29422 semapv:UnspecifiedMatching +OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:ANKS3 semapv:UnspecifiedMatching +OMIM:617310 ANKS3 skos:exactMatch ncbigene:124401 semapv:UnspecifiedMatching +OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:30961 semapv:UnspecifiedMatching +OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:ZG16 semapv:UnspecifiedMatching +OMIM:617311 ZG16 skos:exactMatch ncbigene:653808 semapv:UnspecifiedMatching +OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:29320 semapv:UnspecifiedMatching +OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:FHIP2A semapv:UnspecifiedMatching +OMIM:617312 FHIP2A skos:exactMatch ncbigene:57700 semapv:UnspecifiedMatching +OMIM:617313 SHF skos:exactMatch hgnc.symbol:25116 semapv:UnspecifiedMatching +OMIM:617313 SHF skos:exactMatch hgnc.symbol:SHF semapv:UnspecifiedMatching +OMIM:617313 SHF skos:exactMatch ncbigene:90525 semapv:UnspecifiedMatching +OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:29546 semapv:UnspecifiedMatching +OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:SH3YL1 semapv:UnspecifiedMatching +OMIM:617314 SH3YL1 skos:exactMatch ncbigene:26751 semapv:UnspecifiedMatching +OMIM:617315 anterior segment dysgenesis 6 skos:exactMatch MONDO:0015016 semapv:UnspecifiedMatching +OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:15856 semapv:UnspecifiedMatching +OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:TP53TG5 semapv:UnspecifiedMatching +OMIM:617316 TP53TG5 skos:exactMatch ncbigene:27296 semapv:UnspecifiedMatching +OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:29555 semapv:UnspecifiedMatching +OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:ZFP30 semapv:UnspecifiedMatching +OMIM:617317 ZFP30 skos:exactMatch ncbigene:22835 semapv:UnspecifiedMatching +OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:17153 semapv:UnspecifiedMatching +OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:RUSC1 semapv:UnspecifiedMatching +OMIM:617318 RUSC1 skos:exactMatch ncbigene:23623 semapv:UnspecifiedMatching +OMIM:617319 anterior segment dysgenesis 8 skos:exactMatch MONDO:0015017 semapv:UnspecifiedMatching +OMIM:617320 ichthyosis, congenital, autosomal recessive 12 skos:exactMatch MONDO:0015018 semapv:UnspecifiedMatching +OMIM:617321 yao syndrome skos:exactMatch MONDO:0015019 semapv:UnspecifiedMatching +OMIM:617321 yao syndrome skos:exactMatch UMLS:C4310620 semapv:UnspecifiedMatching +OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:19214 semapv:UnspecifiedMatching +OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:SHKBP1 semapv:UnspecifiedMatching +OMIM:617322 SHKBP1 skos:exactMatch ncbigene:92799 semapv:UnspecifiedMatching +OMIM:617323 intellectual developmental disorder, autosomal recessive 59 skos:exactMatch MONDO:0015020 semapv:UnspecifiedMatching +OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:20366 semapv:UnspecifiedMatching +OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:SHISA2 semapv:UnspecifiedMatching +OMIM:617324 SHISA2 skos:exactMatch ncbigene:387914 semapv:UnspecifiedMatching +OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:25159 semapv:UnspecifiedMatching +OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:SHISA3 semapv:UnspecifiedMatching +OMIM:617325 SHISA3 skos:exactMatch ncbigene:152573 semapv:UnspecifiedMatching +OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:27139 semapv:UnspecifiedMatching +OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:SHISA4 semapv:UnspecifiedMatching +OMIM:617326 SHISA4 skos:exactMatch ncbigene:149345 semapv:UnspecifiedMatching +OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:34491 semapv:UnspecifiedMatching +OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:SHISA6 semapv:UnspecifiedMatching +OMIM:617327 SHISA6 skos:exactMatch ncbigene:388336 semapv:UnspecifiedMatching +OMIM:617328 SHISA7 skos:exactMatch UMLS:C2828684 semapv:UnspecifiedMatching +OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:35409 semapv:UnspecifiedMatching +OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:SHISA7 semapv:UnspecifiedMatching +OMIM:617328 SHISA7 skos:exactMatch ncbigene:729956 semapv:UnspecifiedMatching +OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:18351 semapv:UnspecifiedMatching +OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:SHISA8 semapv:UnspecifiedMatching +OMIM:617329 SHISA8 skos:exactMatch ncbigene:440829 semapv:UnspecifiedMatching +OMIM:617330 hypotonia, ataxia, and delayed development syndrome skos:exactMatch MONDO:0015021 semapv:UnspecifiedMatching +OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:21053 semapv:UnspecifiedMatching +OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:MFSD4B semapv:UnspecifiedMatching +OMIM:617331 MFSD4B skos:exactMatch ncbigene:91749 semapv:UnspecifiedMatching +OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:26675 semapv:UnspecifiedMatching +OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:TERB1 semapv:UnspecifiedMatching +OMIM:617332 TERB1 skos:exactMatch ncbigene:283847 semapv:UnspecifiedMatching +OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch MONDO:0015022 semapv:UnspecifiedMatching +OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch UMLS:C4310617 semapv:UnspecifiedMatching +OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:28654 semapv:UnspecifiedMatching +OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:ZDHHC23 semapv:UnspecifiedMatching +OMIM:617334 ZDHHC23 skos:exactMatch ncbigene:254887 semapv:UnspecifiedMatching +OMIM:617335 EBPL skos:exactMatch hgnc.symbol:18061 semapv:UnspecifiedMatching +OMIM:617335 EBPL skos:exactMatch hgnc.symbol:EBPL semapv:UnspecifiedMatching +OMIM:617335 EBPL skos:exactMatch ncbigene:84650 semapv:UnspecifiedMatching +OMIM:617336 congenital myopathy 24 skos:exactMatch MONDO:0015023 semapv:UnspecifiedMatching +OMIM:617337 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail iia skos:exactMatch MONDO:0015024 semapv:UnspecifiedMatching +OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:28154 semapv:UnspecifiedMatching +OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:NUDT16L1 semapv:UnspecifiedMatching +OMIM:617338 NUDT16L1 skos:exactMatch ncbigene:84309 semapv:UnspecifiedMatching +OMIM:617339 developmental and epileptic encephalopathy 51 skos:exactMatch MONDO:0015025 semapv:UnspecifiedMatching +OMIM:617339 developmental and epileptic encephalopathy 51 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching +OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:23061 semapv:UnspecifiedMatching +OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:UPP2 semapv:UnspecifiedMatching +OMIM:617340 UPP2 skos:exactMatch ncbigene:151531 semapv:UnspecifiedMatching +OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch MONDO:0015026 semapv:UnspecifiedMatching +OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:33782 semapv:UnspecifiedMatching +OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:PTRHD1 semapv:UnspecifiedMatching +OMIM:617342 PTRHD1 skos:exactMatch ncbigene:391356 semapv:UnspecifiedMatching +OMIM:617343 hyperparathyroidism 4 skos:exactMatch MONDO:0024570 semapv:UnspecifiedMatching +OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:25438 semapv:UnspecifiedMatching +OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:PRAG1 semapv:UnspecifiedMatching +OMIM:617344 PRAG1 skos:exactMatch ncbigene:157285 semapv:UnspecifiedMatching +OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:26296 semapv:UnspecifiedMatching +OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:AGBL2 semapv:UnspecifiedMatching +OMIM:617345 AGBL2 skos:exactMatch ncbigene:79841 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch UMLS:C1826609 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:27981 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:AGBL3 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch ncbigene:340351 semapv:UnspecifiedMatching +OMIM:617347 hyperlipoproteinemia, iia 3 skos:exactMatch MONDO:0018473 semapv:UnspecifiedMatching +OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:26977 semapv:UnspecifiedMatching +OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:CPXM2 semapv:UnspecifiedMatching +OMIM:617348 CPXM2 skos:exactMatch ncbigene:119587 semapv:UnspecifiedMatching +OMIM:617349 aortic aneurysm, familial thoracic 11, susceptibility to skos:exactMatch MONDO:0044301 semapv:UnspecifiedMatching +OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch MONDO:0033361 semapv:UnspecifiedMatching +OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching +OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:26384 semapv:UnspecifiedMatching +OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:IGSF10 semapv:UnspecifiedMatching +OMIM:617351 IGSF10 skos:exactMatch ncbigene:285313 semapv:UnspecifiedMatching +OMIM:617352 mulchandani-bhoj-conlin syndrome skos:exactMatch MONDO:0019917 semapv:UnspecifiedMatching +OMIM:617353 DYNLT2B skos:exactMatch hgnc.symbol:28482 semapv:UnspecifiedMatching +OMIM:617353 DYNLT2B skos:exactMatch hgnc.symbol:DYNLT2B semapv:UnspecifiedMatching +OMIM:617353 DYNLT2B skos:exactMatch ncbigene:255758 semapv:UnspecifiedMatching +OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:15962 semapv:UnspecifiedMatching +OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:CBX8 semapv:UnspecifiedMatching +OMIM:617354 CBX8 skos:exactMatch ncbigene:57332 semapv:UnspecifiedMatching +OMIM:617355 EID2B skos:exactMatch hgnc.symbol:26796 semapv:UnspecifiedMatching +OMIM:617355 EID2B skos:exactMatch hgnc.symbol:EID2B semapv:UnspecifiedMatching +OMIM:617355 EID2B skos:exactMatch ncbigene:126272 semapv:UnspecifiedMatching +OMIM:617356 SSPO skos:exactMatch hgnc.symbol:21998 semapv:UnspecifiedMatching +OMIM:617356 SSPO skos:exactMatch hgnc.symbol:SSPOP semapv:UnspecifiedMatching +OMIM:617356 SSPO skos:exactMatch ncbigene:23145 semapv:UnspecifiedMatching +OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:13015 semapv:UnspecifiedMatching +OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:ZNF222 semapv:UnspecifiedMatching +OMIM:617357 ZNF222 skos:exactMatch ncbigene:7673 semapv:UnspecifiedMatching +OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:15756 semapv:UnspecifiedMatching +OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:SDCBP2 semapv:UnspecifiedMatching +OMIM:617358 SDCBP2 skos:exactMatch ncbigene:27111 semapv:UnspecifiedMatching +OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:25450 semapv:UnspecifiedMatching +OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:STOX2 semapv:UnspecifiedMatching +OMIM:617359 STOX2 skos:exactMatch ncbigene:56977 semapv:UnspecifiedMatching +OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch MONDO:0044302 semapv:UnspecifiedMatching +OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:28451 semapv:UnspecifiedMatching +OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:TMEM108 semapv:UnspecifiedMatching +OMIM:617361 TMEM108 skos:exactMatch ncbigene:66000 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C1424824 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C5231546 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C5231547 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch UMLS:C5231548 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:17210 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:DHX37 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch ncbigene:57647 semapv:UnspecifiedMatching +OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:31092 semapv:UnspecifiedMatching +OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:TMEM132A semapv:UnspecifiedMatching +OMIM:617363 TMEM132A skos:exactMatch ncbigene:54972 semapv:UnspecifiedMatching +OMIM:617364 congenital heart defects and ectodermal dysplasia skos:exactMatch MONDO:0044303 semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch UMLS:C1423806 semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:15886 semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:AAR2 semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch ncbigene:25980 semapv:UnspecifiedMatching +OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:24855 semapv:UnspecifiedMatching +OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:CCDC91 semapv:UnspecifiedMatching +OMIM:617366 CCDC91 skos:exactMatch ncbigene:55297 semapv:UnspecifiedMatching +OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:25428 semapv:UnspecifiedMatching +OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:KIAA1217 semapv:UnspecifiedMatching +OMIM:617367 KIAA1217 skos:exactMatch ncbigene:56243 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch UMLS:C1420021 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch UMLS:C4479253 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:10824 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:SH3BP1 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch ncbigene:23616 semapv:UnspecifiedMatching +OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:17062 semapv:UnspecifiedMatching +OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:HABP4 semapv:UnspecifiedMatching +OMIM:617369 HABP4 skos:exactMatch ncbigene:22927 semapv:UnspecifiedMatching +OMIM:617370 peroxisome biogenesis disorder 10b skos:exactMatch MONDO:0054549 semapv:UnspecifiedMatching +OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:21684 semapv:UnspecifiedMatching +OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:ZNF462 semapv:UnspecifiedMatching +OMIM:617371 ZNF462 skos:exactMatch ncbigene:58499 semapv:UnspecifiedMatching +OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:16743 semapv:UnspecifiedMatching +OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:SHC4 semapv:UnspecifiedMatching +OMIM:617372 SHC4 skos:exactMatch ncbigene:399694 semapv:UnspecifiedMatching +OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:24903 semapv:UnspecifiedMatching +OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:PRRC2C semapv:UnspecifiedMatching +OMIM:617373 PRRC2C skos:exactMatch ncbigene:23215 semapv:UnspecifiedMatching +OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:32224 semapv:UnspecifiedMatching +OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:INCA1 semapv:UnspecifiedMatching +OMIM:617374 INCA1 skos:exactMatch ncbigene:388324 semapv:UnspecifiedMatching +OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:28489 semapv:UnspecifiedMatching +OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:KLHDC9 semapv:UnspecifiedMatching +OMIM:617375 KLHDC9 skos:exactMatch ncbigene:126823 semapv:UnspecifiedMatching +OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:28600 semapv:UnspecifiedMatching +OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:PROCA1 semapv:UnspecifiedMatching +OMIM:617376 PROCA1 skos:exactMatch ncbigene:147011 semapv:UnspecifiedMatching +OMIM:617377 SYDE1 skos:exactMatch UMLS:C1823159 semapv:UnspecifiedMatching +OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:25824 semapv:UnspecifiedMatching +OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:SYDE1 semapv:UnspecifiedMatching +OMIM:617377 SYDE1 skos:exactMatch ncbigene:85360 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch UMLS:C2681932 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:29824 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:MYL11 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch ncbigene:29895 semapv:UnspecifiedMatching +OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:26234 semapv:UnspecifiedMatching +OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:MYO19 semapv:UnspecifiedMatching +OMIM:617379 MYO19 skos:exactMatch ncbigene:80179 semapv:UnspecifiedMatching +OMIM:617380 TIMM29 skos:exactMatch UMLS:C4321054 semapv:UnspecifiedMatching +OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:25152 semapv:UnspecifiedMatching +OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:TIMM29 semapv:UnspecifiedMatching +OMIM:617380 TIMM29 skos:exactMatch ncbigene:90580 semapv:UnspecifiedMatching +OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:26442 semapv:UnspecifiedMatching +OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:NUDT16 semapv:UnspecifiedMatching +OMIM:617381 NUDT16 skos:exactMatch ncbigene:131870 semapv:UnspecifiedMatching +OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:10666 semapv:UnspecifiedMatching +OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:STARD10 semapv:UnspecifiedMatching +OMIM:617382 STARD10 skos:exactMatch ncbigene:10809 semapv:UnspecifiedMatching +OMIM:617383 avascular necrosis of femoral head, primary, 2 skos:exactMatch MONDO:0054551 semapv:UnspecifiedMatching +OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient skos:exactMatch MONDO:0044304 semapv:UnspecifiedMatching +OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:18125 semapv:UnspecifiedMatching +OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:ATP6V1E2 semapv:UnspecifiedMatching +OMIM:617385 ATP6V1E2 skos:exactMatch ncbigene:90423 semapv:UnspecifiedMatching +OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:32673 semapv:UnspecifiedMatching +OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:NR1H5P semapv:UnspecifiedMatching +OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:24713 semapv:UnspecifiedMatching +OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:QRICH1 semapv:UnspecifiedMatching +OMIM:617387 QRICH1 skos:exactMatch ncbigene:54870 semapv:UnspecifiedMatching +OMIM:617388 autoinflammation with arthritis and dyskeratosis skos:exactMatch MONDO:0060457 semapv:UnspecifiedMatching +OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch MONDO:0033362 semapv:UnspecifiedMatching +OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching +OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:23427 semapv:UnspecifiedMatching +OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:KIAA1958 semapv:UnspecifiedMatching +OMIM:617390 KIAA1958 skos:exactMatch ncbigene:158405 semapv:UnspecifiedMatching +OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch MONDO:0033363 semapv:UnspecifiedMatching +OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching +OMIM:617392 ectodermal dysplasia 13, hair/tooth iia skos:exactMatch MONDO:0044305 semapv:UnspecifiedMatching +OMIM:617393 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:exactMatch MONDO:0044306 semapv:UnspecifiedMatching +OMIM:617394 sclerosing cholangitis, neonatal skos:exactMatch MONDO:0018816 semapv:UnspecifiedMatching +OMIM:617395 congenital disorder of glycosylation, iia iiq skos:exactMatch MONDO:0054559 semapv:UnspecifiedMatching +OMIM:617396 anauxetic dysplasia 2 skos:exactMatch MONDO:0054561 semapv:UnspecifiedMatching +OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch MONDO:0018828 semapv:UnspecifiedMatching +OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching +OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching +OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:23397 semapv:UnspecifiedMatching +OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:FKBP15 semapv:UnspecifiedMatching +OMIM:617398 FKBP15 skos:exactMatch ncbigene:23307 semapv:UnspecifiedMatching +OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:9716 semapv:UnspecifiedMatching +OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:PXMP2 semapv:UnspecifiedMatching +OMIM:617399 PXMP2 skos:exactMatch ncbigene:5827 semapv:UnspecifiedMatching +OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:23760 semapv:UnspecifiedMatching +OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:EPHX3 semapv:UnspecifiedMatching +OMIM:617400 EPHX3 skos:exactMatch ncbigene:79852 semapv:UnspecifiedMatching +OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:23758 semapv:UnspecifiedMatching +OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:EPHX4 semapv:UnspecifiedMatching +OMIM:617401 EPHX4 skos:exactMatch ncbigene:253152 semapv:UnspecifiedMatching +OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch MONDO:0027462 semapv:UnspecifiedMatching +OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching +OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching +OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch MONDO:0027451 semapv:UnspecifiedMatching +OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching +OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching +OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability skos:exactMatch MONDO:0024607 semapv:UnspecifiedMatching +OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly skos:exactMatch MONDO:0054565 semapv:UnspecifiedMatching +OMIM:617406 bardet-biedl syndrome 21 skos:exactMatch MONDO:0044308 semapv:UnspecifiedMatching +OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:28264 semapv:UnspecifiedMatching +OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:PCGF5 semapv:UnspecifiedMatching +OMIM:617407 PCGF5 skos:exactMatch ncbigene:84333 semapv:UnspecifiedMatching +OMIM:617408 diamond-blackfan anemia 16 skos:exactMatch MONDO:0044309 semapv:UnspecifiedMatching +OMIM:617409 diamond-blackfan anemia 17 skos:exactMatch MONDO:0044310 semapv:UnspecifiedMatching +OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:20648 semapv:UnspecifiedMatching +OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:ZNF419 semapv:UnspecifiedMatching +OMIM:617410 ZNF419 skos:exactMatch ncbigene:79744 semapv:UnspecifiedMatching +OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:21213 semapv:UnspecifiedMatching +OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:ARFGEF3 semapv:UnspecifiedMatching +OMIM:617411 ARFGEF3 skos:exactMatch ncbigene:57221 semapv:UnspecifiedMatching +OMIM:617412 brachycephaly, trichomegaly, and developmental delay skos:exactMatch MONDO:0044311 semapv:UnspecifiedMatching +OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:13420 semapv:UnspecifiedMatching +OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:PRUNE1 semapv:UnspecifiedMatching +OMIM:617413 PRUNE1 skos:exactMatch ncbigene:58497 semapv:UnspecifiedMatching +OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:10305 semapv:UnspecifiedMatching +OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:RPL14 semapv:UnspecifiedMatching +OMIM:617414 RPL14 skos:exactMatch ncbigene:9045 semapv:UnspecifiedMatching +OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:10334 semapv:UnspecifiedMatching +OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:RPL31 semapv:UnspecifiedMatching +OMIM:617415 RPL31 skos:exactMatch ncbigene:6160 semapv:UnspecifiedMatching +OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:10351 semapv:UnspecifiedMatching +OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:RPL3L semapv:UnspecifiedMatching +OMIM:617416 RPL3L skos:exactMatch ncbigene:6123 semapv:UnspecifiedMatching +OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:21370 semapv:UnspecifiedMatching +OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:RPL7L1 semapv:UnspecifiedMatching +OMIM:617417 RPL7L1 skos:exactMatch ncbigene:285855 semapv:UnspecifiedMatching +OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:25706 semapv:UnspecifiedMatching +OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:WDR59 semapv:UnspecifiedMatching +OMIM:617418 WDR59 skos:exactMatch ncbigene:79726 semapv:UnspecifiedMatching +OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:16946 semapv:UnspecifiedMatching +OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:P3H4 semapv:UnspecifiedMatching +OMIM:617419 P3H4 skos:exactMatch ncbigene:10609 semapv:UnspecifiedMatching +OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:26517 semapv:UnspecifiedMatching +OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:KICS2 semapv:UnspecifiedMatching +OMIM:617420 KICS2 skos:exactMatch ncbigene:144577 semapv:UnspecifiedMatching +OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:30879 semapv:UnspecifiedMatching +OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:ITFG2 semapv:UnspecifiedMatching +OMIM:617421 ITFG2 skos:exactMatch ncbigene:55846 semapv:UnspecifiedMatching +OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:23803 semapv:UnspecifiedMatching +OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:ADNP2 semapv:UnspecifiedMatching +OMIM:617422 ADNP2 skos:exactMatch ncbigene:22850 semapv:UnspecifiedMatching +OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:28458 semapv:UnspecifiedMatching +OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:PRR14 semapv:UnspecifiedMatching +OMIM:617423 PRR14 skos:exactMatch ncbigene:78994 semapv:UnspecifiedMatching +OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:21208 semapv:UnspecifiedMatching +OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:WDR26 semapv:UnspecifiedMatching +OMIM:617424 WDR26 skos:exactMatch ncbigene:80232 semapv:UnspecifiedMatching +OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:exactMatch MONDO:0044312 semapv:UnspecifiedMatching +OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:29875 semapv:UnspecifiedMatching +OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:CRCT1 semapv:UnspecifiedMatching +OMIM:617426 CRCT1 skos:exactMatch ncbigene:54544 semapv:UnspecifiedMatching +OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:21657 semapv:UnspecifiedMatching +OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:S100A7A semapv:UnspecifiedMatching +OMIM:617427 S100A7A skos:exactMatch ncbigene:338324 semapv:UnspecifiedMatching +OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:29876 semapv:UnspecifiedMatching +OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:C1orf43 semapv:UnspecifiedMatching +OMIM:617428 C1ORF43 skos:exactMatch ncbigene:25912 semapv:UnspecifiedMatching +OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:15698 semapv:UnspecifiedMatching +OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:UBE2Q1 semapv:UnspecifiedMatching +OMIM:617429 UBE2Q1 skos:exactMatch ncbigene:55585 semapv:UnspecifiedMatching +OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:18990 semapv:UnspecifiedMatching +OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:ADGRF1 semapv:UnspecifiedMatching +OMIM:617430 ADGRF1 skos:exactMatch ncbigene:266977 semapv:UnspecifiedMatching +OMIM:617431 USP53 skos:exactMatch hgnc.symbol:29255 semapv:UnspecifiedMatching +OMIM:617431 USP53 skos:exactMatch hgnc.symbol:USP53 semapv:UnspecifiedMatching +OMIM:617431 USP53 skos:exactMatch ncbigene:54532 semapv:UnspecifiedMatching +OMIM:617432 intellectual developmental disorder, autosomal recessive 60 skos:exactMatch MONDO:0044313 semapv:UnspecifiedMatching +OMIM:617433 retinitis pigmentosa 78 skos:exactMatch MONDO:0044314 semapv:UnspecifiedMatching +OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:51354 semapv:UnspecifiedMatching +OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:CERNA2 semapv:UnspecifiedMatching +OMIM:617434 long noncoding RNA host2 skos:exactMatch ncbigene:642934 semapv:UnspecifiedMatching +OMIM:617435 lopes-maciel-rodan syndrome skos:exactMatch MONDO:0054573 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch UMLS:C4320392 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch hgnc.symbol:20356 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch hgnc.symbol:GON7 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch ncbigene:84520 semapv:UnspecifiedMatching +OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:20441 semapv:UnspecifiedMatching +OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:S100A16 semapv:UnspecifiedMatching +OMIM:617437 S100A16 skos:exactMatch ncbigene:140576 semapv:UnspecifiedMatching +OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:1556 semapv:UnspecifiedMatching +OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:CBX6 semapv:UnspecifiedMatching +OMIM:617438 CBX6 skos:exactMatch ncbigene:23466 semapv:UnspecifiedMatching +OMIM:617439 craniosynostosis 7 skos:exactMatch MONDO:0044315 semapv:UnspecifiedMatching +OMIM:617440 PTCSC1 skos:exactMatch hgnc.symbol:37127 semapv:UnspecifiedMatching +OMIM:617440 PTCSC1 skos:exactMatch hgnc.symbol:PTCSC1 semapv:UnspecifiedMatching +OMIM:617440 PTCSC1 skos:exactMatch ncbigene:100302522 semapv:UnspecifiedMatching +OMIM:617441 thrombocytopenia, anemia, and myelofibrosis skos:exactMatch MONDO:0044316 semapv:UnspecifiedMatching +OMIM:617442 premature ovarian failure 13 skos:exactMatch MONDO:0044317 semapv:UnspecifiedMatching +OMIM:617443 bleeding disorder, platelet-type, 21 skos:exactMatch MONDO:0054577 semapv:UnspecifiedMatching +OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:23258 semapv:UnspecifiedMatching +OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:ZNF479 semapv:UnspecifiedMatching +OMIM:617444 ZNF479 skos:exactMatch ncbigene:90827 semapv:UnspecifiedMatching +OMIM:617445 USP48 skos:exactMatch hgnc.symbol:18533 semapv:UnspecifiedMatching +OMIM:617445 USP48 skos:exactMatch hgnc.symbol:USP48 semapv:UnspecifiedMatching +OMIM:617445 USP48 skos:exactMatch ncbigene:84196 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch UMLS:C1824731 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:32363 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:CHAC2 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch ncbigene:494143 semapv:UnspecifiedMatching +OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:20074 semapv:UnspecifiedMatching +OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:PAN2 semapv:UnspecifiedMatching +OMIM:617447 PAN2 skos:exactMatch ncbigene:9924 semapv:UnspecifiedMatching +OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:29991 semapv:UnspecifiedMatching +OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:PAN3 semapv:UnspecifiedMatching +OMIM:617448 PAN3 skos:exactMatch ncbigene:255967 semapv:UnspecifiedMatching +OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:20185 semapv:UnspecifiedMatching +OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:TMEM260 semapv:UnspecifiedMatching +OMIM:617449 TMEM260 skos:exactMatch ncbigene:54916 semapv:UnspecifiedMatching +OMIM:617450 jansen-de vries syndrome skos:exactMatch MONDO:0044318 semapv:UnspecifiedMatching +OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:23437 semapv:UnspecifiedMatching +OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:AKR1E2 semapv:UnspecifiedMatching +OMIM:617451 AKR1E2 skos:exactMatch ncbigene:83592 semapv:UnspecifiedMatching +OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:exactMatch MONDO:0044319 semapv:UnspecifiedMatching +OMIM:617453 TTC26 skos:exactMatch hgnc.symbol:IFT56 semapv:UnspecifiedMatching +OMIM:617453 TTC26 skos:exactMatch ncbigene:79989 semapv:UnspecifiedMatching +OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:30076 semapv:UnspecifiedMatching +OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:POLR3C semapv:UnspecifiedMatching +OMIM:617454 POLR3C skos:exactMatch ncbigene:10623 semapv:UnspecifiedMatching +OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:15763 semapv:UnspecifiedMatching +OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:POLR3F semapv:UnspecifiedMatching +OMIM:617455 POLR3F skos:exactMatch ncbigene:10621 semapv:UnspecifiedMatching +OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:30075 semapv:UnspecifiedMatching +OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:POLR3G semapv:UnspecifiedMatching +OMIM:617456 POLR3G skos:exactMatch ncbigene:10622 semapv:UnspecifiedMatching +OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:28466 semapv:UnspecifiedMatching +OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:POLR3GL semapv:UnspecifiedMatching +OMIM:617457 POLR3GL skos:exactMatch ncbigene:84265 semapv:UnspecifiedMatching +OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:21894 semapv:UnspecifiedMatching +OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:PRKRIP1 semapv:UnspecifiedMatching +OMIM:617458 PRKRIP1 skos:exactMatch ncbigene:79706 semapv:UnspecifiedMatching +OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:29199 semapv:UnspecifiedMatching +OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:TMCC3 semapv:UnspecifiedMatching +OMIM:617459 TMCC3 skos:exactMatch ncbigene:57458 semapv:UnspecifiedMatching +OMIM:617460 retinitis pigmentosa 79 skos:exactMatch MONDO:0044320 semapv:UnspecifiedMatching +OMIM:617461 YBEY skos:exactMatch hgnc.symbol:1299 semapv:UnspecifiedMatching +OMIM:617461 YBEY skos:exactMatch hgnc.symbol:YBEY semapv:UnspecifiedMatching +OMIM:617461 YBEY skos:exactMatch ncbigene:54059 semapv:UnspecifiedMatching +OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:30025 semapv:UnspecifiedMatching +OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:PPRC1 semapv:UnspecifiedMatching +OMIM:617462 PPRC1 skos:exactMatch ncbigene:23082 semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch UMLS:C1422471 semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch hgnc.symbol:14184 semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch hgnc.symbol:UNKL semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch ncbigene:64718 semapv:UnspecifiedMatching +OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:21203 semapv:UnspecifiedMatching +OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:UNC5CL semapv:UnspecifiedMatching +OMIM:617464 UNC5CL skos:exactMatch ncbigene:222643 semapv:UnspecifiedMatching +OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:37260 semapv:UnspecifiedMatching +OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:SMIM20 semapv:UnspecifiedMatching +OMIM:617465 SMIM20 skos:exactMatch ncbigene:389203 semapv:UnspecifiedMatching +OMIM:617466 townes-brocks syndrome 2 skos:exactMatch MONDO:0054582 semapv:UnspecifiedMatching +OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:24886 semapv:UnspecifiedMatching +OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:FRMD4B semapv:UnspecifiedMatching +OMIM:617467 FRMD4B skos:exactMatch ncbigene:23150 semapv:UnspecifiedMatching +OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch MONDO:0060486 semapv:UnspecifiedMatching +OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching +OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching +OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:16411 semapv:UnspecifiedMatching +OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:AFG1L semapv:UnspecifiedMatching +OMIM:617469 AFG1L skos:exactMatch ncbigene:246269 semapv:UnspecifiedMatching +OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:20294 semapv:UnspecifiedMatching +OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:USPL1 semapv:UnspecifiedMatching +OMIM:617470 USPL1 skos:exactMatch ncbigene:10208 semapv:UnspecifiedMatching +OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:18359 semapv:UnspecifiedMatching +OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:SERPINA12 semapv:UnspecifiedMatching +OMIM:617471 SERPINA12 skos:exactMatch ncbigene:145264 semapv:UnspecifiedMatching +OMIM:617472 TNN skos:exactMatch hgnc.symbol:22942 semapv:UnspecifiedMatching +OMIM:617472 TNN skos:exactMatch hgnc.symbol:TNN semapv:UnspecifiedMatching +OMIM:617472 TNN skos:exactMatch ncbigene:63923 semapv:UnspecifiedMatching +OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:14247 semapv:UnspecifiedMatching +OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:ATP5MG semapv:UnspecifiedMatching +OMIM:617473 ATP5L skos:exactMatch ncbigene:10632 semapv:UnspecifiedMatching +OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:29003 semapv:UnspecifiedMatching +OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:ZNF609 semapv:UnspecifiedMatching +OMIM:617474 ZNF609 skos:exactMatch ncbigene:23060 semapv:UnspecifiedMatching +OMIM:617475 specific granule deficiency 2 skos:exactMatch MONDO:0044208 semapv:UnspecifiedMatching +OMIM:617475 specific granule deficiency 2 skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching +OMIM:617475 specific granule deficiency 2 skos:exactMatch UMLS:C4479548 semapv:UnspecifiedMatching +OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:23034 semapv:UnspecifiedMatching +OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:CNKSR3 semapv:UnspecifiedMatching +OMIM:617476 CNKSR3 skos:exactMatch ncbigene:154043 semapv:UnspecifiedMatching +OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:14096 semapv:UnspecifiedMatching +OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:ZNF324 semapv:UnspecifiedMatching +OMIM:617477 ZNF324 skos:exactMatch ncbigene:25799 semapv:UnspecifiedMatching +OMIM:617478 structural heart defects and renal anomalies syndrome skos:exactMatch MONDO:0044321 semapv:UnspecifiedMatching +OMIM:617479 SSUH2 skos:exactMatch hgnc.symbol:24809 semapv:UnspecifiedMatching +OMIM:617479 SSUH2 skos:exactMatch hgnc.symbol:SSUH2 semapv:UnspecifiedMatching +OMIM:617479 SSUH2 skos:exactMatch ncbigene:51066 semapv:UnspecifiedMatching +OMIM:617480 46,xx sex reversal 4 skos:exactMatch MONDO:0060489 semapv:UnspecifiedMatching +OMIM:617480 46,xx sex reversal 4 skos:exactMatch UMLS:C4479552 semapv:UnspecifiedMatching +OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:exactMatch MONDO:0060490 semapv:UnspecifiedMatching +OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:30759 semapv:UnspecifiedMatching +OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:TP53TG3 semapv:UnspecifiedMatching +OMIM:617482 TP53TG3 skos:exactMatch ncbigene:24150 semapv:UnspecifiedMatching +OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:25013 semapv:UnspecifiedMatching +OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:CNIH4 semapv:UnspecifiedMatching +OMIM:617483 CNIH4 skos:exactMatch ncbigene:29097 semapv:UnspecifiedMatching +OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:26565 semapv:UnspecifiedMatching +OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:GTSF1 semapv:UnspecifiedMatching +OMIM:617484 GTSF1 skos:exactMatch ncbigene:121355 semapv:UnspecifiedMatching +OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:20751 semapv:UnspecifiedMatching +OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:WDFY3 semapv:UnspecifiedMatching +OMIM:617485 WDFY3 skos:exactMatch ncbigene:23001 semapv:UnspecifiedMatching +OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:25720 semapv:UnspecifiedMatching +OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:GPATCH3 semapv:UnspecifiedMatching +OMIM:617486 GPATCH3 skos:exactMatch ncbigene:63906 semapv:UnspecifiedMatching +OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:25881 semapv:UnspecifiedMatching +OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:DNAJB14 semapv:UnspecifiedMatching +OMIM:617487 DNAJB14 skos:exactMatch ncbigene:79982 semapv:UnspecifiedMatching +OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:25898 semapv:UnspecifiedMatching +OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:RPUSD4 semapv:UnspecifiedMatching +OMIM:617488 RPUSD4 skos:exactMatch ncbigene:84881 semapv:UnspecifiedMatching +OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:28597 semapv:UnspecifiedMatching +OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:LINC00305 semapv:UnspecifiedMatching +OMIM:617489 LINC00305 skos:exactMatch ncbigene:221241 semapv:UnspecifiedMatching +OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:28598 semapv:UnspecifiedMatching +OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:CATSPERD semapv:UnspecifiedMatching +OMIM:617490 CATSPERD skos:exactMatch ncbigene:257062 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch UMLS:C1538490 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:26208 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:NSUN3 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch ncbigene:63899 semapv:UnspecifiedMatching +OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:17189 semapv:UnspecifiedMatching +OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:OLFM2 semapv:UnspecifiedMatching +OMIM:617492 OLFM2 skos:exactMatch ncbigene:93145 semapv:UnspecifiedMatching +OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch MONDO:0060491 semapv:UnspecifiedMatching +OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching +OMIM:617494 EML2 skos:exactMatch hgnc.symbol:18035 semapv:UnspecifiedMatching +OMIM:617494 EML2 skos:exactMatch hgnc.symbol:EML2 semapv:UnspecifiedMatching +OMIM:617494 EML2 skos:exactMatch ncbigene:24139 semapv:UnspecifiedMatching +OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:21587 semapv:UnspecifiedMatching +OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:TAFA1 semapv:UnspecifiedMatching +OMIM:617495 FAM19A1 skos:exactMatch ncbigene:407738 semapv:UnspecifiedMatching +OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:21589 semapv:UnspecifiedMatching +OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:TAFA2 semapv:UnspecifiedMatching +OMIM:617496 FAM19A2 skos:exactMatch ncbigene:338811 semapv:UnspecifiedMatching +OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:21590 semapv:UnspecifiedMatching +OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:TAFA3 semapv:UnspecifiedMatching +OMIM:617497 FAM19A3 skos:exactMatch ncbigene:284467 semapv:UnspecifiedMatching +OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:21591 semapv:UnspecifiedMatching +OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:TAFA4 semapv:UnspecifiedMatching +OMIM:617498 FAM19A4 skos:exactMatch ncbigene:151647 semapv:UnspecifiedMatching +OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:21592 semapv:UnspecifiedMatching +OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:TAFA5 semapv:UnspecifiedMatching +OMIM:617499 FAM19A5 skos:exactMatch ncbigene:25817 semapv:UnspecifiedMatching +OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:37126 semapv:UnspecifiedMatching +OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:UCA1 semapv:UnspecifiedMatching +OMIM:617500 UCA1 skos:exactMatch ncbigene:652995 semapv:UnspecifiedMatching +OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:15904 semapv:UnspecifiedMatching +OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:KAT14 semapv:UnspecifiedMatching +OMIM:617501 KAT14 skos:exactMatch ncbigene:57325 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch UMLS:C1538082 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:25601 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:WDR41 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch ncbigene:55255 semapv:UnspecifiedMatching +OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:29134 semapv:UnspecifiedMatching +OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:DENND3 semapv:UnspecifiedMatching +OMIM:617503 DENND3 skos:exactMatch ncbigene:22898 semapv:UnspecifiedMatching +OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:20284 semapv:UnspecifiedMatching +OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:SIPA1L1 semapv:UnspecifiedMatching +OMIM:617504 SIPA1L1 skos:exactMatch ncbigene:26037 semapv:UnspecifiedMatching +OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:28371 semapv:UnspecifiedMatching +OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:TRAM1L1 semapv:UnspecifiedMatching +OMIM:617505 TRAM1L1 skos:exactMatch ncbigene:133022 semapv:UnspecifiedMatching +OMIM:617506 noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch MONDO:0054588 semapv:UnspecifiedMatching +OMIM:617507 peho-like syndrome skos:exactMatch MONDO:0020495 semapv:UnspecifiedMatching +OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:28079 semapv:UnspecifiedMatching +OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:ZNF598 semapv:UnspecifiedMatching +OMIM:617508 ZNF598 skos:exactMatch ncbigene:90850 semapv:UnspecifiedMatching +OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:29071 semapv:UnspecifiedMatching +OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:VWA8 semapv:UnspecifiedMatching +OMIM:617509 VWA8 skos:exactMatch ncbigene:23078 semapv:UnspecifiedMatching +OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:28491 semapv:UnspecifiedMatching +OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:CATSPERE semapv:UnspecifiedMatching +OMIM:617510 CATSPERE skos:exactMatch ncbigene:257044 semapv:UnspecifiedMatching +OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:19231 semapv:UnspecifiedMatching +OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:CATSPERZ semapv:UnspecifiedMatching +OMIM:617511 CATSPERZ skos:exactMatch ncbigene:25858 semapv:UnspecifiedMatching +OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:13578 semapv:UnspecifiedMatching +OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:ZNF318 semapv:UnspecifiedMatching +OMIM:617512 ZNF318 skos:exactMatch ncbigene:24149 semapv:UnspecifiedMatching +OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:25590 semapv:UnspecifiedMatching +OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:OGDHL semapv:UnspecifiedMatching +OMIM:617513 OGDHL skos:exactMatch ncbigene:55753 semapv:UnspecifiedMatching +OMIM:617514 immunodeficiency 52 skos:exactMatch MONDO:0044721 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch UMLS:C1826822 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:23081 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:RHBDD1 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch ncbigene:84236 semapv:UnspecifiedMatching +OMIM:617516 stankiewicz-isidor syndrome skos:exactMatch MONDO:0054591 semapv:UnspecifiedMatching +OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:10439 semapv:UnspecifiedMatching +OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:RPS6KC1 semapv:UnspecifiedMatching +OMIM:617517 RPS6KC1 skos:exactMatch ncbigene:26750 semapv:UnspecifiedMatching +OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:25501 semapv:UnspecifiedMatching +OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:BSDC1 semapv:UnspecifiedMatching +OMIM:617518 BSDC1 skos:exactMatch ncbigene:55108 semapv:UnspecifiedMatching +OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:exactMatch MONDO:0060496 semapv:UnspecifiedMatching +OMIM:617520 microcephaly 18, primary, autosomal dominant skos:exactMatch MONDO:0054593 semapv:UnspecifiedMatching +OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:25231 semapv:UnspecifiedMatching +OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:YIPF1 semapv:UnspecifiedMatching +OMIM:617521 YIPF1 skos:exactMatch ncbigene:54432 semapv:UnspecifiedMatching +OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:28476 semapv:UnspecifiedMatching +OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:YIPF2 semapv:UnspecifiedMatching +OMIM:617522 YIPF2 skos:exactMatch ncbigene:78992 semapv:UnspecifiedMatching +OMIM:617523 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch MONDO:0056797 semapv:UnspecifiedMatching +OMIM:617524 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch MONDO:0033012 semapv:UnspecifiedMatching +OMIM:617525 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch MONDO:0033013 semapv:UnspecifiedMatching +OMIM:617526 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch MONDO:0033014 semapv:UnspecifiedMatching +OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch MONDO:0060502 semapv:UnspecifiedMatching +OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch Orphanet:521426 semapv:UnspecifiedMatching +OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching +OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:22420 semapv:UnspecifiedMatching +OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:PSMG3 semapv:UnspecifiedMatching +OMIM:617528 PSMG3 skos:exactMatch ncbigene:84262 semapv:UnspecifiedMatching +OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:26150 semapv:UnspecifiedMatching +OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:FASTKD1 semapv:UnspecifiedMatching +OMIM:617529 FASTKD1 skos:exactMatch ncbigene:79675 semapv:UnspecifiedMatching +OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:28758 semapv:UnspecifiedMatching +OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:FASTKD3 semapv:UnspecifiedMatching +OMIM:617530 FASTKD3 skos:exactMatch ncbigene:79072 semapv:UnspecifiedMatching +OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:26182 semapv:UnspecifiedMatching +OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:COLGALT1 semapv:UnspecifiedMatching +OMIM:617531 COLGALT1 skos:exactMatch ncbigene:79709 semapv:UnspecifiedMatching +OMIM:617532 intellectual developmental disorder with neuropsychiatric features skos:exactMatch MONDO:0044322 semapv:UnspecifiedMatching +OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:16790 semapv:UnspecifiedMatching +OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:COLGALT2 semapv:UnspecifiedMatching +OMIM:617533 COLGALT2 skos:exactMatch ncbigene:23127 semapv:UnspecifiedMatching +OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:28145 semapv:UnspecifiedMatching +OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:YIPF4 semapv:UnspecifiedMatching +OMIM:617534 YIPF4 skos:exactMatch ncbigene:84272 semapv:UnspecifiedMatching +OMIM:617535 FAIM skos:exactMatch hgnc.symbol:18703 semapv:UnspecifiedMatching +OMIM:617535 FAIM skos:exactMatch hgnc.symbol:FAIM semapv:UnspecifiedMatching +OMIM:617535 FAIM skos:exactMatch ncbigene:55179 semapv:UnspecifiedMatching +OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:26203 semapv:UnspecifiedMatching +OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:BAIAP2L2 semapv:UnspecifiedMatching +OMIM:617536 BAIAP2L2 skos:exactMatch ncbigene:80115 semapv:UnspecifiedMatching +OMIM:617537 rahman syndrome skos:exactMatch MONDO:0044323 semapv:UnspecifiedMatching +OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:25789 semapv:UnspecifiedMatching +OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:EFL1 semapv:UnspecifiedMatching +OMIM:617538 EFL1 skos:exactMatch ncbigene:79631 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch UMLS:C1824741 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:29675 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:CLCC1 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch ncbigene:23155 semapv:UnspecifiedMatching +OMIM:617540 pituitary adenoma 5, multiple types skos:exactMatch MONDO:0054601 semapv:UnspecifiedMatching +OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:25527 semapv:UnspecifiedMatching +OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:ANKZF1 semapv:UnspecifiedMatching +OMIM:617541 ANKZF1 skos:exactMatch ncbigene:55139 semapv:UnspecifiedMatching +OMIM:617542 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development skos:exactMatch MONDO:0054602 semapv:UnspecifiedMatching +OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:10066 semapv:UnspecifiedMatching +OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:PCGF3 semapv:UnspecifiedMatching +OMIM:617543 PCGF3 skos:exactMatch ncbigene:10336 semapv:UnspecifiedMatching +OMIM:617544 LINC00672 skos:exactMatch hgnc.symbol:LASP1NB semapv:UnspecifiedMatching +OMIM:617544 LINC00672 skos:exactMatch ncbigene:100505576 semapv:UnspecifiedMatching +OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:26368 semapv:UnspecifiedMatching +OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:MCMDC2 semapv:UnspecifiedMatching +OMIM:617545 MCMDC2 skos:exactMatch ncbigene:157777 semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch UMLS:C2681564 semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch hgnc.symbol:33783 semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch hgnc.symbol:HELT semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch ncbigene:391723 semapv:UnspecifiedMatching +OMIM:617547 retinal dystrophy with or without macular staphyloma skos:exactMatch MONDO:0060507 semapv:UnspecifiedMatching +OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:15939 semapv:UnspecifiedMatching +OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:WFDC2 semapv:UnspecifiedMatching +OMIM:617548 WFDC2 skos:exactMatch ncbigene:10406 semapv:UnspecifiedMatching +OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:16104 semapv:UnspecifiedMatching +OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:TP53INP2 semapv:UnspecifiedMatching +OMIM:617549 TP53INP2 skos:exactMatch ncbigene:58476 semapv:UnspecifiedMatching +OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:21108 semapv:UnspecifiedMatching +OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:PSMG4 semapv:UnspecifiedMatching +OMIM:617550 PSMG4 skos:exactMatch ncbigene:389362 semapv:UnspecifiedMatching +OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:24272 semapv:UnspecifiedMatching +OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:SIDT2 semapv:UnspecifiedMatching +OMIM:617551 SIDT2 skos:exactMatch ncbigene:51092 semapv:UnspecifiedMatching +OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:24490 semapv:UnspecifiedMatching +OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:ARHGEF26 semapv:UnspecifiedMatching +OMIM:617552 ARHGEF26 skos:exactMatch ncbigene:26084 semapv:UnspecifiedMatching +OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:13572 semapv:UnspecifiedMatching +OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:FCGBP semapv:UnspecifiedMatching +OMIM:617553 FCGBP skos:exactMatch ncbigene:8857 semapv:UnspecifiedMatching +OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:16027 semapv:UnspecifiedMatching +OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:FGD3 semapv:UnspecifiedMatching +OMIM:617554 FGD3 skos:exactMatch ncbigene:89846 semapv:UnspecifiedMatching +OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:25463 semapv:UnspecifiedMatching +OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:FCHSD1 semapv:UnspecifiedMatching +OMIM:617555 FCHSD1 skos:exactMatch ncbigene:89848 semapv:UnspecifiedMatching +OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:29114 semapv:UnspecifiedMatching +OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:FCHSD2 semapv:UnspecifiedMatching +OMIM:617556 FCHSD2 skos:exactMatch ncbigene:9873 semapv:UnspecifiedMatching +OMIM:617557 gabriele-de vries syndrome skos:exactMatch MONDO:0044738 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch UMLS:C1538396 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch UMLS:C4539818 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:26684 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:CFAP43 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch ncbigene:80217 semapv:UnspecifiedMatching +OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:25631 semapv:UnspecifiedMatching +OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:CFAP44 semapv:UnspecifiedMatching +OMIM:617559 CFAP44 skos:exactMatch ncbigene:55779 semapv:UnspecifiedMatching +OMIM:617560 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:exactMatch MONDO:0033043 semapv:UnspecifiedMatching +OMIM:617561 cohen-gibson syndrome skos:exactMatch MONDO:0060510 semapv:UnspecifiedMatching +OMIM:617561 cohen-gibson syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching +OMIM:617561 cohen-gibson syndrome skos:exactMatch UMLS:C4479654 semapv:UnspecifiedMatching +OMIM:617562 meckel syndrome 13 skos:exactMatch MONDO:0033044 semapv:UnspecifiedMatching +OMIM:617563 orofaciodigital syndrome 16 skos:exactMatch MONDO:0033045 semapv:UnspecifiedMatching +OMIM:617564 meier-gorlin syndrome 8 skos:exactMatch MONDO:0033046 semapv:UnspecifiedMatching +OMIM:617565 perrault syndrome 6 skos:exactMatch MONDO:0033047 semapv:UnspecifiedMatching +OMIM:617565 perrault syndrome 6 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching +OMIM:617565 perrault syndrome 6 skos:exactMatch UMLS:C4479656 semapv:UnspecifiedMatching +OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:25392 semapv:UnspecifiedMatching +OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:ZNF568 semapv:UnspecifiedMatching +OMIM:617566 ZNF568 skos:exactMatch ncbigene:374900 semapv:UnspecifiedMatching +OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:23382 semapv:UnspecifiedMatching +OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:TPD52L3 semapv:UnspecifiedMatching +OMIM:617567 TPD52L3 skos:exactMatch ncbigene:89882 semapv:UnspecifiedMatching +OMIM:617568 USF3 skos:exactMatch hgnc.symbol:30494 semapv:UnspecifiedMatching +OMIM:617568 USF3 skos:exactMatch hgnc.symbol:USF3 semapv:UnspecifiedMatching +OMIM:617568 USF3 skos:exactMatch ncbigene:205717 semapv:UnspecifiedMatching +OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:17273 semapv:UnspecifiedMatching +OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:KIF15 semapv:UnspecifiedMatching +OMIM:617569 KIF15 skos:exactMatch ncbigene:56992 semapv:UnspecifiedMatching +OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:26551 semapv:UnspecifiedMatching +OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:DZIP1L semapv:UnspecifiedMatching +OMIM:617570 DZIP1L skos:exactMatch ncbigene:199221 semapv:UnspecifiedMatching +OMIM:617571 ichthyosis, congenital, autosomal recessive 14 skos:exactMatch MONDO:0033091 semapv:UnspecifiedMatching +OMIM:617572 exudative vitreoretinopathy 7 skos:exactMatch MONDO:0033123 semapv:UnspecifiedMatching +OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:31966 semapv:UnspecifiedMatching +OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:CLEC12B semapv:UnspecifiedMatching +OMIM:617573 CLEC12B skos:exactMatch ncbigene:387837 semapv:UnspecifiedMatching +OMIM:617574 ichthyosis, congenital, autosomal recessive 13 skos:exactMatch MONDO:0033092 semapv:UnspecifiedMatching +OMIM:617575 reni syndrome skos:exactMatch MONDO:0033203 semapv:UnspecifiedMatching +OMIM:617576 spermatogenic failure 18 skos:exactMatch MONDO:0054615 semapv:UnspecifiedMatching +OMIM:617577 ciliary dyskinesia, primary, 37 skos:exactMatch MONDO:0033204 semapv:UnspecifiedMatching +OMIM:617578 FERD3L skos:exactMatch UMLS:C1424474 semapv:UnspecifiedMatching +OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:16660 semapv:UnspecifiedMatching +OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:FERD3L semapv:UnspecifiedMatching +OMIM:617578 FERD3L skos:exactMatch ncbigene:222894 semapv:UnspecifiedMatching +OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:2033 semapv:UnspecifiedMatching +OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:CLDN10 semapv:UnspecifiedMatching +OMIM:617579 CLDN10 skos:exactMatch ncbigene:9071 semapv:UnspecifiedMatching +OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:30725 semapv:UnspecifiedMatching +OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:TSPAN16 semapv:UnspecifiedMatching +OMIM:617580 TSPAN16 skos:exactMatch ncbigene:26526 semapv:UnspecifiedMatching +OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:1266 semapv:UnspecifiedMatching +OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:C2CD2 semapv:UnspecifiedMatching +OMIM:617581 C2CD2 skos:exactMatch ncbigene:25966 semapv:UnspecifiedMatching +OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:29000 semapv:UnspecifiedMatching +OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:C2CD2L semapv:UnspecifiedMatching +OMIM:617582 C2CD2L skos:exactMatch ncbigene:9854 semapv:UnspecifiedMatching +OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:16132 semapv:UnspecifiedMatching +OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:SRXN1 semapv:UnspecifiedMatching +OMIM:617583 SRXN1 skos:exactMatch ncbigene:140809 semapv:UnspecifiedMatching +OMIM:617584 spinocerebellar ataxia, autosomal recessive 25 skos:exactMatch MONDO:0033115 semapv:UnspecifiedMatching +OMIM:617585 immunodeficiency 53 skos:exactMatch MONDO:0054696 semapv:UnspecifiedMatching +OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:16460 semapv:UnspecifiedMatching +OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:FARP2 semapv:UnspecifiedMatching +OMIM:617586 FARP2 skos:exactMatch ncbigene:9855 semapv:UnspecifiedMatching +OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:11264 semapv:UnspecifiedMatching +OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:SPRR2D semapv:UnspecifiedMatching +OMIM:617587 SPRR2D skos:exactMatch ncbigene:6703 semapv:UnspecifiedMatching +OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:11265 semapv:UnspecifiedMatching +OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:SPRR2E semapv:UnspecifiedMatching +OMIM:617588 SPRR2E skos:exactMatch ncbigene:6704 semapv:UnspecifiedMatching +OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:11266 semapv:UnspecifiedMatching +OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:SPRR2F semapv:UnspecifiedMatching +OMIM:617589 SPRR2F skos:exactMatch ncbigene:6705 semapv:UnspecifiedMatching +OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:11267 semapv:UnspecifiedMatching +OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:SPRR2G semapv:UnspecifiedMatching +OMIM:617590 SPRR2G skos:exactMatch ncbigene:6706 semapv:UnspecifiedMatching +OMIM:617591 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch MONDO:0054699 semapv:UnspecifiedMatching +OMIM:617591 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch UMLS:C4747850 semapv:UnspecifiedMatching +OMIM:617592 spermatogenic failure 19 skos:exactMatch MONDO:0054723 semapv:UnspecifiedMatching +OMIM:617593 spermatogenic failure 20 skos:exactMatch MONDO:0054724 semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch UMLS:C1824329 semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch hgnc.symbol:26288 semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch hgnc.symbol:JHY semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch ncbigene:79864 semapv:UnspecifiedMatching +OMIM:617595 birk-landau-perez syndrome skos:exactMatch MONDO:0044726 semapv:UnspecifiedMatching +OMIM:617595 birk-landau-perez syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching +OMIM:617595 birk-landau-perez syndrome skos:exactMatch UMLS:C4539828 semapv:UnspecifiedMatching +OMIM:617596 maleylacetoacetate isomerase deficiency skos:exactMatch MONDO:0060527 semapv:UnspecifiedMatching +OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:25991 semapv:UnspecifiedMatching +OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:RETSAT semapv:UnspecifiedMatching +OMIM:617597 RETSAT skos:exactMatch ncbigene:54884 semapv:UnspecifiedMatching +OMIM:617598 mosaic variegated aneuploidy syndrome 3 skos:exactMatch MONDO:0054736 semapv:UnspecifiedMatching +OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch MONDO:0033364 semapv:UnspecifiedMatching +OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching +OMIM:617600 intellectual developmental disorder, autosomal dominant 45 skos:exactMatch MONDO:0030910 semapv:UnspecifiedMatching +OMIM:617601 intellectual developmental disorder, autosomal dominant 46 skos:exactMatch MONDO:0030911 semapv:UnspecifiedMatching +OMIM:617602 congenital heart defects and skeletal malformations syndrome skos:exactMatch MONDO:0060532 semapv:UnspecifiedMatching +OMIM:617602 congenital heart defects and skeletal malformations syndrome skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching +OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:21539 semapv:UnspecifiedMatching +OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:RBM24 semapv:UnspecifiedMatching +OMIM:617603 RBM24 skos:exactMatch ncbigene:221662 semapv:UnspecifiedMatching +OMIM:617604 microcephaly, short stature, and limb abnormalities skos:exactMatch MONDO:0060533 semapv:UnspecifiedMatching +OMIM:617605 deafness, autosomal dominant 71 skos:exactMatch MONDO:0033258 semapv:UnspecifiedMatching +OMIM:617606 deafness, autosomal dominant 72 skos:exactMatch MONDO:0033259 semapv:UnspecifiedMatching +OMIM:617607 amelogenesis imperfecta, iia 3b skos:exactMatch MONDO:0021547 semapv:UnspecifiedMatching +OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:17574 semapv:UnspecifiedMatching +OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:ALPK3 semapv:UnspecifiedMatching +OMIM:617608 ALPK3 skos:exactMatch ncbigene:57538 semapv:UnspecifiedMatching +OMIM:617609 nephrotic syndrome, iia 15 skos:exactMatch MONDO:0033262 semapv:UnspecifiedMatching +OMIM:617610 polycystic kidney disease 5 skos:exactMatch MONDO:0033281 semapv:UnspecifiedMatching +OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:25483 semapv:UnspecifiedMatching +OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:PIMREG semapv:UnspecifiedMatching +OMIM:617611 PIMREG skos:exactMatch ncbigene:54478 semapv:UnspecifiedMatching +OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:20730 semapv:UnspecifiedMatching +OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:ARMC9 semapv:UnspecifiedMatching +OMIM:617612 ARMC9 skos:exactMatch ncbigene:80210 semapv:UnspecifiedMatching +OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch MONDO:0033282 semapv:UnspecifiedMatching +OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching +OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:26933 semapv:UnspecifiedMatching +OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:SPOUT1 semapv:UnspecifiedMatching +OMIM:617614 SPOUT1 skos:exactMatch ncbigene:51490 semapv:UnspecifiedMatching +OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:1164 semapv:UnspecifiedMatching +OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:TMEM258 semapv:UnspecifiedMatching +OMIM:617615 TMEM258 skos:exactMatch ncbigene:746 semapv:UnspecifiedMatching +OMIM:617616 skraban-deardorff syndrome skos:exactMatch MONDO:0054636 semapv:UnspecifiedMatching +OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:42394 semapv:UnspecifiedMatching +OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:SPRY4-IT1 semapv:UnspecifiedMatching +OMIM:617617 SPRY4IT1 skos:exactMatch ncbigene:100642175 semapv:UnspecifiedMatching +OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:19959 semapv:UnspecifiedMatching +OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:TOGARAM1 semapv:UnspecifiedMatching +OMIM:617618 TOGARAM1 skos:exactMatch ncbigene:23116 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch UMLS:C1826310 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540596 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540597 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:29678 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:MSTO1 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch ncbigene:55154 semapv:UnspecifiedMatching +OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:14965 semapv:UnspecifiedMatching +OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:LRRC3 semapv:UnspecifiedMatching +OMIM:617620 LRRC3 skos:exactMatch ncbigene:81543 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch UMLS:C1422075 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:13579 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:PAXBP1 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch ncbigene:94104 semapv:UnspecifiedMatching +OMIM:617622 joubert syndrome 30 skos:exactMatch MONDO:0033308 semapv:UnspecifiedMatching +OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:16408 semapv:UnspecifiedMatching +OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:SPDYE1 semapv:UnspecifiedMatching +OMIM:617623 SPDYE1 skos:exactMatch ncbigene:285955 semapv:UnspecifiedMatching +OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:33841 semapv:UnspecifiedMatching +OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:SPDYE2 semapv:UnspecifiedMatching +OMIM:617624 SPDYE2 skos:exactMatch ncbigene:441273 semapv:UnspecifiedMatching +OMIM:617625 SPDYE3 skos:exactMatch hgnc.symbol:35462 semapv:UnspecifiedMatching +OMIM:617625 SPDYE3 skos:exactMatch hgnc.symbol:SPDYE3 semapv:UnspecifiedMatching +OMIM:617625 SPDYE3 skos:exactMatch ncbigene:441272 semapv:UnspecifiedMatching +OMIM:617626 fibromatosis, gingival, 5 skos:exactMatch MONDO:0033493 semapv:UnspecifiedMatching +OMIM:617627 SPAAR skos:exactMatch hgnc.symbol:27244 semapv:UnspecifiedMatching +OMIM:617627 SPAAR skos:exactMatch hgnc.symbol:SPAAR semapv:UnspecifiedMatching +OMIM:617627 SPAAR skos:exactMatch ncbigene:158376 semapv:UnspecifiedMatching +OMIM:617628 SPDYE4 skos:exactMatch hgnc.symbol:35463 semapv:UnspecifiedMatching +OMIM:617628 SPDYE4 skos:exactMatch hgnc.symbol:SPDYE4 semapv:UnspecifiedMatching +OMIM:617628 SPDYE4 skos:exactMatch ncbigene:388333 semapv:UnspecifiedMatching +OMIM:617629 schizophrenia 19 skos:exactMatch MONDO:0033312 semapv:UnspecifiedMatching +OMIM:617630 GPR37L1 skos:exactMatch hgnc.symbol:14923 semapv:UnspecifiedMatching +OMIM:617630 GPR37L1 skos:exactMatch hgnc.symbol:GPR37L1 semapv:UnspecifiedMatching +OMIM:617630 GPR37L1 skos:exactMatch ncbigene:9283 semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch UMLS:C1537413 semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch hgnc.symbol:29171 semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch hgnc.symbol:IQCE semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch ncbigene:23288 semapv:UnspecifiedMatching +OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:29379 semapv:UnspecifiedMatching +OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:EFCAB7 semapv:UnspecifiedMatching +OMIM:617632 EFCAB7 skos:exactMatch ncbigene:84455 semapv:UnspecifiedMatching +OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 skos:exactMatch MONDO:0033116 semapv:UnspecifiedMatching +OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:44662 semapv:UnspecifiedMatching +OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:CCER2 semapv:UnspecifiedMatching +OMIM:617634 CCER2 skos:exactMatch ncbigene:643669 semapv:UnspecifiedMatching +OMIM:617635 intellectual developmental disorder, autosomal dominant 47 skos:exactMatch MONDO:0030912 semapv:UnspecifiedMatching +OMIM:617636 CMKLR2AS skos:exactMatch hgnc.symbol:48602 semapv:UnspecifiedMatching +OMIM:617636 CMKLR2AS skos:exactMatch hgnc.symbol:CMKLR2-AS semapv:UnspecifiedMatching +OMIM:617636 CMKLR2AS skos:exactMatch ncbigene:101669764 semapv:UnspecifiedMatching +OMIM:617637 deafness, autosomal recessive 106 skos:exactMatch MONDO:0033198 semapv:UnspecifiedMatching +OMIM:617638 immunodeficiency 11b with atopic dermatitis skos:exactMatch MONDO:0054697 semapv:UnspecifiedMatching +OMIM:617639 deafness, autosomal recessive 107 skos:exactMatch MONDO:0033199 semapv:UnspecifiedMatching +OMIM:617640 ST7L skos:exactMatch hgnc.symbol:18441 semapv:UnspecifiedMatching +OMIM:617640 ST7L skos:exactMatch hgnc.symbol:ST7L semapv:UnspecifiedMatching +OMIM:617640 ST7L skos:exactMatch ncbigene:54879 semapv:UnspecifiedMatching +OMIM:617641 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch MONDO:0060549 semapv:UnspecifiedMatching +OMIM:617642 polydactyly, postaxial, iia a7 skos:exactMatch MONDO:0060550 semapv:UnspecifiedMatching +OMIM:617642 polydactyly, postaxial, iia a7 skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching +OMIM:617643 cerebellar atrophy, developmental delay, and seizures skos:exactMatch MONDO:0060551 semapv:UnspecifiedMatching +OMIM:617644 spermatogenic failure 21 skos:exactMatch MONDO:0054725 semapv:UnspecifiedMatching +OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:23761 semapv:UnspecifiedMatching +OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:KBTBD4 semapv:UnspecifiedMatching +OMIM:617645 KBTBD4 skos:exactMatch ncbigene:55709 semapv:UnspecifiedMatching +OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:29279 semapv:UnspecifiedMatching +OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:BAHCC1 semapv:UnspecifiedMatching +OMIM:617646 BAHCC1 skos:exactMatch ncbigene:57597 semapv:UnspecifiedMatching +OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:49211 semapv:UnspecifiedMatching +OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:PCAT18 semapv:UnspecifiedMatching +OMIM:617647 PCAT18 skos:exactMatch ncbigene:728606 semapv:UnspecifiedMatching +OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:18041 semapv:UnspecifiedMatching +OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:BMP2K semapv:UnspecifiedMatching +OMIM:617648 BMP2K skos:exactMatch ncbigene:55589 semapv:UnspecifiedMatching +OMIM:617649 UBE2O skos:exactMatch UMLS:C1823570 semapv:UnspecifiedMatching +OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:29554 semapv:UnspecifiedMatching +OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:UBE2O semapv:UnspecifiedMatching +OMIM:617649 UBE2O skos:exactMatch ncbigene:63893 semapv:UnspecifiedMatching +OMIM:617650 PACERR skos:exactMatch hgnc.symbol:50552 semapv:UnspecifiedMatching +OMIM:617650 PACERR skos:exactMatch hgnc.symbol:PACERR semapv:UnspecifiedMatching +OMIM:617650 PACERR skos:exactMatch ncbigene:103752588 semapv:UnspecifiedMatching +OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:23825 semapv:UnspecifiedMatching +OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:MOB3B semapv:UnspecifiedMatching +OMIM:617652 MOB3B skos:exactMatch ncbigene:79817 semapv:UnspecifiedMatching +OMIM:617653 EQTN skos:exactMatch hgnc.symbol:1359 semapv:UnspecifiedMatching +OMIM:617653 EQTN skos:exactMatch hgnc.symbol:EQTN semapv:UnspecifiedMatching +OMIM:617653 EQTN skos:exactMatch ncbigene:54586 semapv:UnspecifiedMatching +OMIM:617654 deafness, autosomal recessive 108 skos:exactMatch MONDO:0033200 semapv:UnspecifiedMatching +OMIM:617655 PCNX1 skos:exactMatch UMLS:C1426376 semapv:UnspecifiedMatching +OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:19740 semapv:UnspecifiedMatching +OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:PCNX1 semapv:UnspecifiedMatching +OMIM:617655 PCNX1 skos:exactMatch ncbigene:22990 semapv:UnspecifiedMatching +OMIM:617656 PCNX2 skos:exactMatch UMLS:C1418381 semapv:UnspecifiedMatching +OMIM:617656 PCNX2 skos:exactMatch hgnc.symbol:8736 semapv:UnspecifiedMatching +OMIM:617656 PCNX2 skos:exactMatch hgnc.symbol:PCNX2 semapv:UnspecifiedMatching +OMIM:617656 PCNX2 skos:exactMatch ncbigene:80003 semapv:UnspecifiedMatching +OMIM:617657 PCNX3 skos:exactMatch UMLS:C1425765 semapv:UnspecifiedMatching +OMIM:617657 PCNX3 skos:exactMatch hgnc.symbol:18760 semapv:UnspecifiedMatching +OMIM:617657 PCNX3 skos:exactMatch hgnc.symbol:PCNX3 semapv:UnspecifiedMatching +OMIM:617657 PCNX3 skos:exactMatch ncbigene:399909 semapv:UnspecifiedMatching +OMIM:617658 SQOR skos:exactMatch hgnc.symbol:20390 semapv:UnspecifiedMatching +OMIM:617658 SQOR skos:exactMatch hgnc.symbol:SQOR semapv:UnspecifiedMatching +OMIM:617658 SQOR skos:exactMatch ncbigene:58472 semapv:UnspecifiedMatching +OMIM:617659 LIPT2 skos:exactMatch hgnc.symbol:37216 semapv:UnspecifiedMatching +OMIM:617659 LIPT2 skos:exactMatch hgnc.symbol:LIPT2 semapv:UnspecifiedMatching +OMIM:617659 LIPT2 skos:exactMatch ncbigene:387787 semapv:UnspecifiedMatching +OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch MONDO:0060554 semapv:UnspecifiedMatching +OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching +OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch UMLS:C4540004 semapv:UnspecifiedMatching +OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch MONDO:0060555 semapv:UnspecifiedMatching +OMIM:617662 joint laxity, short stature, and myopia skos:exactMatch MONDO:0060556 semapv:UnspecifiedMatching +OMIM:617663 deafness, autosomal dominant 73 skos:exactMatch MONDO:0033260 semapv:UnspecifiedMatching +OMIM:617664 combined oxidative phosphorylation deficiency 32 skos:exactMatch MONDO:0054654 semapv:UnspecifiedMatching +OMIM:617665 developmental and epileptic encephalopathy 56 skos:exactMatch MONDO:0033365 semapv:UnspecifiedMatching +OMIM:617665 developmental and epileptic encephalopathy 56 skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching +OMIM:617666 fraser syndrome 2 skos:exactMatch MONDO:0054738 semapv:UnspecifiedMatching +OMIM:617667 fraser syndrome 3 skos:exactMatch MONDO:0054739 semapv:UnspecifiedMatching +OMIM:617667 fraser syndrome 3 skos:exactMatch Orphanet:2052 semapv:UnspecifiedMatching +OMIM:617667 fraser syndrome 3 skos:exactMatch UMLS:C4540040 semapv:UnspecifiedMatching +OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch MONDO:0060562 semapv:UnspecifiedMatching +OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch UMLS:C4540052 semapv:UnspecifiedMatching +OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity skos:exactMatch MONDO:0044696 semapv:UnspecifiedMatching +OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:28569 semapv:UnspecifiedMatching +OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:MEIOB semapv:UnspecifiedMatching +OMIM:617670 MEIOB skos:exactMatch ncbigene:254528 semapv:UnspecifiedMatching +OMIM:617671 helix syndrome skos:exactMatch MONDO:0060564 semapv:UnspecifiedMatching +OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy skos:exactMatch MONDO:0044701 semapv:UnspecifiedMatching +OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:30705 semapv:UnspecifiedMatching +OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:SPATA22 semapv:UnspecifiedMatching +OMIM:617673 SPATA22 skos:exactMatch ncbigene:84690 semapv:UnspecifiedMatching +OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:10759 semapv:UnspecifiedMatching +OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:SERP1 semapv:UnspecifiedMatching +OMIM:617674 SERP1 skos:exactMatch ncbigene:27230 semapv:UnspecifiedMatching +OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch MONDO:0044714 semapv:UnspecifiedMatching +OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch Orphanet:502423 semapv:UnspecifiedMatching +OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch UMLS:C4540096 semapv:UnspecifiedMatching +OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:9560 semapv:UnspecifiedMatching +OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:PSMD3 semapv:UnspecifiedMatching +OMIM:617676 PSMD3 skos:exactMatch ncbigene:5709 semapv:UnspecifiedMatching +OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:45089 semapv:UnspecifiedMatching +OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:PCAT2 semapv:UnspecifiedMatching +OMIM:617678 PCAT2 skos:exactMatch ncbigene:103164619 semapv:UnspecifiedMatching +OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:25056 semapv:UnspecifiedMatching +OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:KLHL20 semapv:UnspecifiedMatching +OMIM:617679 KLHL20 skos:exactMatch ncbigene:27252 semapv:UnspecifiedMatching +OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:25016 semapv:UnspecifiedMatching +OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:SSU72 semapv:UnspecifiedMatching +OMIM:617680 SSU72 skos:exactMatch ncbigene:29101 semapv:UnspecifiedMatching +OMIM:617681 blepharocheilodontic syndrome 2 skos:exactMatch MONDO:0040503 semapv:UnspecifiedMatching +OMIM:617682 pilarowski-bjornsson syndrome skos:exactMatch MONDO:0060568 semapv:UnspecifiedMatching +OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:26810 semapv:UnspecifiedMatching +OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:EGFLAM semapv:UnspecifiedMatching +OMIM:617683 EGFLAM skos:exactMatch ncbigene:133584 semapv:UnspecifiedMatching +OMIM:617684 LYAR skos:exactMatch hgnc.symbol:26021 semapv:UnspecifiedMatching +OMIM:617684 LYAR skos:exactMatch hgnc.symbol:LYAR semapv:UnspecifiedMatching +OMIM:617684 LYAR skos:exactMatch ncbigene:55646 semapv:UnspecifiedMatching +OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:15902 semapv:UnspecifiedMatching +OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:CDH26 semapv:UnspecifiedMatching +OMIM:617685 CDH26 skos:exactMatch ncbigene:60437 semapv:UnspecifiedMatching +OMIM:617686 pituitary adenoma 3, multiple types skos:exactMatch MONDO:0054665 semapv:UnspecifiedMatching +OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:25622 semapv:UnspecifiedMatching +OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:TBC1D23 semapv:UnspecifiedMatching +OMIM:617687 TBC1D23 skos:exactMatch ncbigene:55773 semapv:UnspecifiedMatching +OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:24536 semapv:UnspecifiedMatching +OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:PARM1 semapv:UnspecifiedMatching +OMIM:617688 PARM1 skos:exactMatch ncbigene:25849 semapv:UnspecifiedMatching +OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:30359 semapv:UnspecifiedMatching +OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:CSDC2 semapv:UnspecifiedMatching +OMIM:617689 CSDC2 skos:exactMatch ncbigene:27254 semapv:UnspecifiedMatching +OMIM:617690 ovarian dysgenesis 5 skos:exactMatch MONDO:0054666 semapv:UnspecifiedMatching +OMIM:617691 spinocerebellar ataxia 44 skos:exactMatch MONDO:0033479 semapv:UnspecifiedMatching +OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:13999 semapv:UnspecifiedMatching +OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:PRDM15 semapv:UnspecifiedMatching +OMIM:617692 PRDM15 skos:exactMatch ncbigene:63977 semapv:UnspecifiedMatching +OMIM:617693 VIT skos:exactMatch hgnc.symbol:12697 semapv:UnspecifiedMatching +OMIM:617693 VIT skos:exactMatch hgnc.symbol:VIT semapv:UnspecifiedMatching +OMIM:617693 VIT skos:exactMatch ncbigene:5212 semapv:UnspecifiedMatching +OMIM:617694 al kaissi syndrome skos:exactMatch MONDO:0044324 semapv:UnspecifiedMatching +OMIM:617695 pontocerebellar hypoplasia, iia 11 skos:exactMatch MONDO:0054669 semapv:UnspecifiedMatching +OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:51144 semapv:UnspecifiedMatching +OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:LINC01488 semapv:UnspecifiedMatching +OMIM:617696 LINC01488 skos:exactMatch ncbigene:101928292 semapv:UnspecifiedMatching +OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:54266 semapv:UnspecifiedMatching +OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:LINC02747 semapv:UnspecifiedMatching +OMIM:617697 LINC02747 skos:exactMatch ncbigene:105379407 semapv:UnspecifiedMatching +OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch MONDO:0044724 semapv:UnspecifiedMatching +OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch Orphanet:505216 semapv:UnspecifiedMatching +OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch UMLS:C3539395 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch hgnc.symbol:28453 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch hgnc.symbol:GID4 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch ncbigene:79018 semapv:UnspecifiedMatching +OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:12480 semapv:UnspecifiedMatching +OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:UBE2F semapv:UnspecifiedMatching +OMIM:617700 UBE2F skos:exactMatch ncbigene:140739 semapv:UnspecifiedMatching +OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:45129 semapv:UnspecifiedMatching +OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:CASC8 semapv:UnspecifiedMatching +OMIM:617701 CASC8 skos:exactMatch ncbigene:727677 semapv:UnspecifiedMatching +OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:49836 semapv:UnspecifiedMatching +OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:CASC21 semapv:UnspecifiedMatching +OMIM:617702 CASC21 skos:exactMatch ncbigene:103021164 semapv:UnspecifiedMatching +OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:49476 semapv:UnspecifiedMatching +OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:CASC19 semapv:UnspecifiedMatching +OMIM:617703 CASC19 skos:exactMatch ncbigene:103021165 semapv:UnspecifiedMatching +OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:48939 semapv:UnspecifiedMatching +OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:CASC11 semapv:UnspecifiedMatching +OMIM:617704 CASC11 skos:exactMatch ncbigene:100270680 semapv:UnspecifiedMatching +OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:45128 semapv:UnspecifiedMatching +OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:CCAT1 semapv:UnspecifiedMatching +OMIM:617705 CCAT1 skos:exactMatch ncbigene:100507056 semapv:UnspecifiedMatching +OMIM:617706 spermatogenic failure 22 skos:exactMatch MONDO:0054726 semapv:UnspecifiedMatching +OMIM:617707 spermatogenic failure 23 skos:exactMatch MONDO:0054727 semapv:UnspecifiedMatching +OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:16827 semapv:UnspecifiedMatching +OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:CDC123 semapv:UnspecifiedMatching +OMIM:617708 CDC123 skos:exactMatch ncbigene:8872 semapv:UnspecifiedMatching +OMIM:617709 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch MONDO:0060577 semapv:UnspecifiedMatching +OMIM:617710 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:exactMatch MONDO:0060578 semapv:UnspecifiedMatching +OMIM:617711 developmental and epileptic encephalopathy 91 skos:exactMatch MONDO:0020630 semapv:UnspecifiedMatching +OMIM:617712 oocyte/zygote/embryo maturation arrest 3 skos:exactMatch MONDO:0021574 semapv:UnspecifiedMatching +OMIM:617713 combined oxidative phosphorylation deficiency 33 skos:exactMatch MONDO:0054677 semapv:UnspecifiedMatching +OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:33742 semapv:UnspecifiedMatching +OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:CAVIN4 semapv:UnspecifiedMatching +OMIM:617714 CAVIN4 skos:exactMatch ncbigene:347273 semapv:UnspecifiedMatching +OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:24331 semapv:UnspecifiedMatching +OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:MALRD1 semapv:UnspecifiedMatching +OMIM:617715 MALRD1 skos:exactMatch ncbigene:340895 semapv:UnspecifiedMatching +OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:29096 semapv:UnspecifiedMatching +OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:ARHGAP44 semapv:UnspecifiedMatching +OMIM:617716 ARHGAP44 skos:exactMatch ncbigene:9912 semapv:UnspecifiedMatching +OMIM:617717 auditory neuropathy and optic atrophy skos:exactMatch MONDO:0060582 semapv:UnspecifiedMatching +OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia skos:exactMatch MONDO:0060583 semapv:UnspecifiedMatching +OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching +OMIM:617719 epiphyseal dysplasia, multiple, 7 skos:exactMatch MONDO:0054680 semapv:UnspecifiedMatching +OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:33732 semapv:UnspecifiedMatching +OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:PPP1R42 semapv:UnspecifiedMatching +OMIM:617720 PPP1R42 skos:exactMatch ncbigene:286187 semapv:UnspecifiedMatching +OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 skos:exactMatch MONDO:0060585 semapv:UnspecifiedMatching +OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching +OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:26041 semapv:UnspecifiedMatching +OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:TXNL4B semapv:UnspecifiedMatching +OMIM:617722 TXNL4B skos:exactMatch ncbigene:54957 semapv:UnspecifiedMatching +OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:29100 semapv:UnspecifiedMatching +OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:RRP12 semapv:UnspecifiedMatching +OMIM:617723 RRP12 skos:exactMatch ncbigene:23223 semapv:UnspecifiedMatching +OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:29095 semapv:UnspecifiedMatching +OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:TSC22D2 semapv:UnspecifiedMatching +OMIM:617724 TSC22D2 skos:exactMatch ncbigene:9819 semapv:UnspecifiedMatching +OMIM:617725 FUOM skos:exactMatch hgnc.symbol:24733 semapv:UnspecifiedMatching +OMIM:617725 FUOM skos:exactMatch hgnc.symbol:FUOM semapv:UnspecifiedMatching +OMIM:617725 FUOM skos:exactMatch ncbigene:282969 semapv:UnspecifiedMatching +OMIM:617726 CARD19 skos:exactMatch hgnc.symbol:28148 semapv:UnspecifiedMatching +OMIM:617726 CARD19 skos:exactMatch hgnc.symbol:CARD19 semapv:UnspecifiedMatching +OMIM:617726 CARD19 skos:exactMatch ncbigene:84270 semapv:UnspecifiedMatching +OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:30797 semapv:UnspecifiedMatching +OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:TM9SF4 semapv:UnspecifiedMatching +OMIM:617727 TM9SF4 skos:exactMatch ncbigene:9777 semapv:UnspecifiedMatching +OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:29366 semapv:UnspecifiedMatching +OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:CEP295 semapv:UnspecifiedMatching +OMIM:617728 CEP295 skos:exactMatch ncbigene:85459 semapv:UnspecifiedMatching +OMIM:617729 galloway-mowat syndrome 3 skos:exactMatch MONDO:0033007 semapv:UnspecifiedMatching +OMIM:617730 galloway-mowat syndrome 4 skos:exactMatch MONDO:0033008 semapv:UnspecifiedMatching +OMIM:617731 galloway-mowat syndrome 5 skos:exactMatch MONDO:0033009 semapv:UnspecifiedMatching +OMIM:617732 facial palsy, congenital, with ptosis and velopharyngeal dysfunction skos:exactMatch MONDO:0060589 semapv:UnspecifiedMatching +OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:29009 semapv:UnspecifiedMatching +OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:ZNF518A semapv:UnspecifiedMatching +OMIM:617733 ZNF518A skos:exactMatch ncbigene:9849 semapv:UnspecifiedMatching +OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:29365 semapv:UnspecifiedMatching +OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:ZNF518B semapv:UnspecifiedMatching +OMIM:617734 ZNF518B skos:exactMatch ncbigene:85460 semapv:UnspecifiedMatching +OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:26563 semapv:UnspecifiedMatching +OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:C10orf90 semapv:UnspecifiedMatching +OMIM:617735 C10ORF90 skos:exactMatch ncbigene:118611 semapv:UnspecifiedMatching +OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:24001 semapv:UnspecifiedMatching +OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:MORN4 semapv:UnspecifiedMatching +OMIM:617736 MORN4 skos:exactMatch ncbigene:118812 semapv:UnspecifiedMatching +OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:21416 semapv:UnspecifiedMatching +OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:SMPDL3B semapv:UnspecifiedMatching +OMIM:617737 SMPDL3B skos:exactMatch ncbigene:27293 semapv:UnspecifiedMatching +OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:25340 semapv:UnspecifiedMatching +OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:KBTBD6 semapv:UnspecifiedMatching +OMIM:617738 KBTBD6 skos:exactMatch ncbigene:89890 semapv:UnspecifiedMatching +OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:25266 semapv:UnspecifiedMatching +OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:KBTBD7 semapv:UnspecifiedMatching +OMIM:617739 KBTBD7 skos:exactMatch ncbigene:84078 semapv:UnspecifiedMatching +OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:27111 semapv:UnspecifiedMatching +OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:VSIG10L semapv:UnspecifiedMatching +OMIM:617740 VSIG10L skos:exactMatch ncbigene:147645 semapv:UnspecifiedMatching +OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:19667 semapv:UnspecifiedMatching +OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:WDR20 semapv:UnspecifiedMatching +OMIM:617741 WDR20 skos:exactMatch ncbigene:91833 semapv:UnspecifiedMatching +OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:25473 semapv:UnspecifiedMatching +OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:KANSL3 semapv:UnspecifiedMatching +OMIM:617742 KANSL3 skos:exactMatch ncbigene:55683 semapv:UnspecifiedMatching +OMIM:617743 oocyte/zygote/embryo maturation arrest 4 skos:exactMatch MONDO:0021575 semapv:UnspecifiedMatching +OMIM:617744 immunodeficiency, developmental delay, and hypohomocysteinemia skos:exactMatch MONDO:0060591 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch UMLS:C3470954 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch UMLS:C4694043 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:28299 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:MFSD12 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch ncbigene:126321 semapv:UnspecifiedMatching +OMIM:617746 sweeney-cox syndrome skos:exactMatch MONDO:0060592 semapv:UnspecifiedMatching +OMIM:617746 sweeney-cox syndrome skos:exactMatch UMLS:C4540299 semapv:UnspecifiedMatching +OMIM:617747 SP140L skos:exactMatch hgnc.symbol:25105 semapv:UnspecifiedMatching +OMIM:617747 SP140L skos:exactMatch hgnc.symbol:SP140L semapv:UnspecifiedMatching +OMIM:617747 SP140L skos:exactMatch ncbigene:93349 semapv:UnspecifiedMatching +OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:20614 semapv:UnspecifiedMatching +OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:TDRD5 semapv:UnspecifiedMatching +OMIM:617748 TDRD5 skos:exactMatch ncbigene:163589 semapv:UnspecifiedMatching +OMIM:617749 actn3 deficiency skos:exactMatch MONDO:0060593 semapv:UnspecifiedMatching +OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:29191 semapv:UnspecifiedMatching +OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:LIMCH1 semapv:UnspecifiedMatching +OMIM:617750 LIMCH1 skos:exactMatch ncbigene:22998 semapv:UnspecifiedMatching +OMIM:617751 intellectual developmental disorder, autosomal dominant 48 skos:exactMatch MONDO:0030913 semapv:UnspecifiedMatching +OMIM:617752 clark-baraitser syndrome skos:exactMatch MONDO:0030914 semapv:UnspecifiedMatching +OMIM:617752 clark-baraitser syndrome skos:exactMatch Orphanet:600731 semapv:UnspecifiedMatching +OMIM:617752 clark-baraitser syndrome skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching +OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:18656 semapv:UnspecifiedMatching +OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:RIOK1 semapv:UnspecifiedMatching +OMIM:617753 RIOK1 skos:exactMatch ncbigene:83732 semapv:UnspecifiedMatching +OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:18999 semapv:UnspecifiedMatching +OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:RIOK2 semapv:UnspecifiedMatching +OMIM:617754 RIOK2 skos:exactMatch ncbigene:55781 semapv:UnspecifiedMatching +OMIM:617755 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch MONDO:0060596 semapv:UnspecifiedMatching +OMIM:617756 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch MONDO:0033015 semapv:UnspecifiedMatching +OMIM:617757 joubert syndrome 32 skos:exactMatch MONDO:0033309 semapv:UnspecifiedMatching +OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:26049 semapv:UnspecifiedMatching +OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:ZNF692 semapv:UnspecifiedMatching +OMIM:617758 ZNF692 skos:exactMatch ncbigene:55657 semapv:UnspecifiedMatching +OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:28437 semapv:UnspecifiedMatching +OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:RPUSD3 semapv:UnspecifiedMatching +OMIM:617759 RPUSD3 skos:exactMatch ncbigene:285367 semapv:UnspecifiedMatching +OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch MONDO:0054695 semapv:UnspecifiedMatching +OMIM:617761 joubert syndrome 31 skos:exactMatch MONDO:0033310 semapv:UnspecifiedMatching +OMIM:617762 leukodystrophy, progressive, early childhood-onset skos:exactMatch MONDO:0044718 semapv:UnspecifiedMatching +OMIM:617763 short stature, hearing loss, retinitis pigmentosa, and distinctive facies skos:exactMatch MONDO:0044634 semapv:UnspecifiedMatching +OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:30960 semapv:UnspecifiedMatching +OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:ZER1 semapv:UnspecifiedMatching +OMIM:617764 ZER1 skos:exactMatch ncbigene:10444 semapv:UnspecifiedMatching +OMIM:617765 immunodeficiency, common variable, 14 skos:exactMatch MONDO:0054691 semapv:UnspecifiedMatching +OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:29856 semapv:UnspecifiedMatching +OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:PSME3IP1 semapv:UnspecifiedMatching +OMIM:617766 FAM192A skos:exactMatch ncbigene:80011 semapv:UnspecifiedMatching +OMIM:617767 joubert syndrome 33 skos:exactMatch MONDO:0033311 semapv:UnspecifiedMatching +OMIM:617767 joubert syndrome 33 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching +OMIM:617768 kleefstra syndrome 2 skos:exactMatch MONDO:0054701 semapv:UnspecifiedMatching +OMIM:617769 spinocerebellar ataxia 45 skos:exactMatch MONDO:0033480 semapv:UnspecifiedMatching +OMIM:617770 spinocerebellar ataxia 46 skos:exactMatch MONDO:0033481 semapv:UnspecifiedMatching +OMIM:617771 developmental and epileptic encephalopathy 57 skos:exactMatch MONDO:0033366 semapv:UnspecifiedMatching +OMIM:617771 developmental and epileptic encephalopathy 57 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching +OMIM:617772 deafness, autosomal dominant 34, with or without inflammation skos:exactMatch MONDO:0033261 semapv:UnspecifiedMatching +OMIM:617772 deafness, autosomal dominant 34, with or without inflammation skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching +OMIM:617773 intellectual developmental disorder, autosomal recessive 61 skos:exactMatch MONDO:0030915 semapv:UnspecifiedMatching +OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:20598 semapv:UnspecifiedMatching +OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:LONP2 semapv:UnspecifiedMatching +OMIM:617774 LONP2 skos:exactMatch ncbigene:83752 semapv:UnspecifiedMatching +OMIM:617775 C10ORF99 skos:exactMatch hgnc.symbol:GPR15LG semapv:UnspecifiedMatching +OMIM:617775 C10ORF99 skos:exactMatch ncbigene:387695 semapv:UnspecifiedMatching +OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:15723 semapv:UnspecifiedMatching +OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:BAGE2 semapv:UnspecifiedMatching +OMIM:617776 BAGE2 skos:exactMatch ncbigene:85319 semapv:UnspecifiedMatching +OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:15728 semapv:UnspecifiedMatching +OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:BAGE3 semapv:UnspecifiedMatching +OMIM:617777 BAGE3 skos:exactMatch ncbigene:85318 semapv:UnspecifiedMatching +OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:20652 semapv:UnspecifiedMatching +OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:TXNDC15 semapv:UnspecifiedMatching +OMIM:617778 TXNDC15 skos:exactMatch ncbigene:79770 semapv:UnspecifiedMatching +OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:28618 semapv:UnspecifiedMatching +OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:TMEM256 semapv:UnspecifiedMatching +OMIM:617779 TMEM256 skos:exactMatch ncbigene:254863 semapv:UnspecifiedMatching +OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch MONDO:0060611 semapv:UnspecifiedMatching +OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch UMLS:C4540434 semapv:UnspecifiedMatching +OMIM:617781 retinitis pigmentosa 80 skos:exactMatch MONDO:0054708 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch UMLS:C1429058 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch UMLS:C4540497 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:31042 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:GREB1L semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch ncbigene:80000 semapv:UnspecifiedMatching +OMIM:617783 nephrotic syndrome, iia 16 skos:exactMatch MONDO:0033280 semapv:UnspecifiedMatching +OMIM:617784 fanconi anemia, complementation group w skos:exactMatch MONDO:0044325 semapv:UnspecifiedMatching +OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:19262 semapv:UnspecifiedMatching +OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:PAPLN semapv:UnspecifiedMatching +OMIM:617785 PAPLN skos:exactMatch ncbigene:89932 semapv:UnspecifiedMatching +OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:1623 semapv:UnspecifiedMatching +OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:CCT8 semapv:UnspecifiedMatching +OMIM:617786 CCT8 skos:exactMatch ncbigene:10694 semapv:UnspecifiedMatching +OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities skos:exactMatch MONDO:0030916 semapv:UnspecifiedMatching +OMIM:617788 intellectual developmental disorder, autosomal dominant 51 skos:exactMatch MONDO:0030917 semapv:UnspecifiedMatching +OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:31454 semapv:UnspecifiedMatching +OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:TXNDC8 semapv:UnspecifiedMatching +OMIM:617789 TXNDC8 skos:exactMatch ncbigene:255220 semapv:UnspecifiedMatching +OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:16470 semapv:UnspecifiedMatching +OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:TXNDC2 semapv:UnspecifiedMatching +OMIM:617790 TXNDC2 skos:exactMatch ncbigene:84203 semapv:UnspecifiedMatching +OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:29373 semapv:UnspecifiedMatching +OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:LRRCC1 semapv:UnspecifiedMatching +OMIM:617791 LRRCC1 skos:exactMatch ncbigene:85444 semapv:UnspecifiedMatching +OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:28030 semapv:UnspecifiedMatching +OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:TXNDC11 semapv:UnspecifiedMatching +OMIM:617792 TXNDC11 skos:exactMatch ncbigene:51061 semapv:UnspecifiedMatching +OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:27351 semapv:UnspecifiedMatching +OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:EEF1AKMT1 semapv:UnspecifiedMatching +OMIM:617793 EEF1AKMT1 skos:exactMatch ncbigene:221143 semapv:UnspecifiedMatching +OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:33787 semapv:UnspecifiedMatching +OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:EEF1AKMT2 semapv:UnspecifiedMatching +OMIM:617794 EEF1AKMT2 skos:exactMatch ncbigene:399818 semapv:UnspecifiedMatching +OMIM:617795 EPOP skos:exactMatch hgnc.symbol:34493 semapv:UnspecifiedMatching +OMIM:617795 EPOP skos:exactMatch hgnc.symbol:EPOP semapv:UnspecifiedMatching +OMIM:617795 EPOP skos:exactMatch ncbigene:100170841 semapv:UnspecifiedMatching +OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch MONDO:0030918 semapv:UnspecifiedMatching +OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch UMLS:C4540478 semapv:UnspecifiedMatching +OMIM:617797 SRMS skos:exactMatch hgnc.symbol:11298 semapv:UnspecifiedMatching +OMIM:617797 SRMS skos:exactMatch hgnc.symbol:SRMS semapv:UnspecifiedMatching +OMIM:617797 SRMS skos:exactMatch ncbigene:6725 semapv:UnspecifiedMatching +OMIM:617798 intellectual developmental disorder, autosomal dominant 53 skos:exactMatch MONDO:0030919 semapv:UnspecifiedMatching +OMIM:617799 intellectual developmental disorder, autosomal dominant 54 skos:exactMatch MONDO:0030920 semapv:UnspecifiedMatching +OMIM:617800 microcephaly 19, primary, autosomal recessive skos:exactMatch MONDO:0054716 semapv:UnspecifiedMatching +OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:20040 semapv:UnspecifiedMatching +OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:CAP1 semapv:UnspecifiedMatching +OMIM:617801 CAP1 skos:exactMatch ncbigene:10487 semapv:UnspecifiedMatching +OMIM:617802 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch MONDO:0060621 semapv:UnspecifiedMatching +OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:28550 semapv:UnspecifiedMatching +OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:TMEM26 semapv:UnspecifiedMatching +OMIM:617803 TMEM26 skos:exactMatch ncbigene:219623 semapv:UnspecifiedMatching +OMIM:617804 neurodevelopmental disorder with variable motor and language impairment skos:exactMatch MONDO:0060622 semapv:UnspecifiedMatching +OMIM:617804 neurodevelopmental disorder with variable motor and language impairment skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching +OMIM:617805 renal hypodysplasia/aplasia 3 skos:exactMatch MONDO:0024520 semapv:UnspecifiedMatching +OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:28448 semapv:UnspecifiedMatching +OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:TMEM86B semapv:UnspecifiedMatching +OMIM:617806 TMEM86B skos:exactMatch ncbigene:255043 semapv:UnspecifiedMatching +OMIM:617807 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter skos:exactMatch MONDO:0060624 semapv:UnspecifiedMatching +OMIM:617808 coffin-siris syndrome 6 skos:exactMatch MONDO:0033492 semapv:UnspecifiedMatching +OMIM:617809 geleophysic dysplasia 3 skos:exactMatch MONDO:0054722 semapv:UnspecifiedMatching +OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 skos:exactMatch MONDO:0060627 semapv:UnspecifiedMatching +OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:18247 semapv:UnspecifiedMatching +OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:SMU1 semapv:UnspecifiedMatching +OMIM:617811 SMU1 skos:exactMatch ncbigene:55234 semapv:UnspecifiedMatching +OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:28480 semapv:UnspecifiedMatching +OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:SLC35G2 semapv:UnspecifiedMatching +OMIM:617812 SLC35G2 skos:exactMatch ncbigene:80723 semapv:UnspecifiedMatching +OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:32371 semapv:UnspecifiedMatching +OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:TMEM88 semapv:UnspecifiedMatching +OMIM:617813 TMEM88 skos:exactMatch ncbigene:92162 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch UMLS:C1823356 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:27898 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:TMEM95 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch ncbigene:339168 semapv:UnspecifiedMatching +OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:30347 semapv:UnspecifiedMatching +OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:POLR3E semapv:UnspecifiedMatching +OMIM:617815 POLR3E skos:exactMatch ncbigene:55718 semapv:UnspecifiedMatching +OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch MONDO:0040500 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C1425637 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231550 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:18599 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:TUBGCP2 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch ncbigene:10844 semapv:UnspecifiedMatching +OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:18598 semapv:UnspecifiedMatching +OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:TUBGCP3 semapv:UnspecifiedMatching +OMIM:617818 TUBGCP3 skos:exactMatch ncbigene:10426 semapv:UnspecifiedMatching +OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:30279 semapv:UnspecifiedMatching +OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:RALGPS2 semapv:UnspecifiedMatching +OMIM:617819 RALGPS2 skos:exactMatch ncbigene:55103 semapv:UnspecifiedMatching +OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive skos:exactMatch MONDO:0060629 semapv:UnspecifiedMatching +OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 skos:exactMatch MONDO:0040501 semapv:UnspecifiedMatching +OMIM:617822 alkuraya-kucinskas syndrome skos:exactMatch MONDO:0060631 semapv:UnspecifiedMatching +OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:29406 semapv:UnspecifiedMatching +OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:PWWP2A semapv:UnspecifiedMatching +OMIM:617823 PWWP2A skos:exactMatch ncbigene:114825 semapv:UnspecifiedMatching +OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:12760 semapv:UnspecifiedMatching +OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:BRWD1 semapv:UnspecifiedMatching +OMIM:617824 BRWD1 skos:exactMatch ncbigene:54014 semapv:UnspecifiedMatching +OMIM:617825 glucocorticoid deficiency 5 skos:exactMatch MONDO:0040502 semapv:UnspecifiedMatching +OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:16046 semapv:UnspecifiedMatching +OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:UNC50 semapv:UnspecifiedMatching +OMIM:617826 UNC50 skos:exactMatch ncbigene:25972 semapv:UnspecifiedMatching +OMIM:617827 immunodeficiency 55 skos:exactMatch MONDO:0044725 semapv:UnspecifiedMatching +OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:20152 semapv:UnspecifiedMatching +OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:ZFHX2 semapv:UnspecifiedMatching +OMIM:617828 ZFHX2 skos:exactMatch ncbigene:85446 semapv:UnspecifiedMatching +OMIM:617829 developmental and epileptic encephalopathy 92 skos:exactMatch MONDO:0020631 semapv:UnspecifiedMatching +OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch MONDO:0033367 semapv:UnspecifiedMatching +OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching +OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures skos:exactMatch MONDO:0030921 semapv:UnspecifiedMatching +OMIM:617832 SNTN skos:exactMatch hgnc.symbol:33706 semapv:UnspecifiedMatching +OMIM:617832 SNTN skos:exactMatch hgnc.symbol:SNTN semapv:UnspecifiedMatching +OMIM:617832 SNTN skos:exactMatch ncbigene:132203 semapv:UnspecifiedMatching +OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:52658 semapv:UnspecifiedMatching +OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:ZFHX2-AS1 semapv:UnspecifiedMatching +OMIM:617833 ZFHX2AS1 skos:exactMatch ncbigene:109729160 semapv:UnspecifiedMatching +OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:18211 semapv:UnspecifiedMatching +OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:PLEKHJ1 semapv:UnspecifiedMatching +OMIM:617834 PLEKHJ1 skos:exactMatch ncbigene:55111 semapv:UnspecifiedMatching +OMIM:617835 PDPR skos:exactMatch hgnc.symbol:30264 semapv:UnspecifiedMatching +OMIM:617835 PDPR skos:exactMatch hgnc.symbol:PDPR semapv:UnspecifiedMatching +OMIM:617835 PDPR skos:exactMatch ncbigene:55066 semapv:UnspecifiedMatching +OMIM:617836 developmental delay and seizures with or without movement abnormalities skos:exactMatch MONDO:0044326 semapv:UnspecifiedMatching +OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:32789 semapv:UnspecifiedMatching +OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:GFRAL semapv:UnspecifiedMatching +OMIM:617837 GFRAL skos:exactMatch ncbigene:389400 semapv:UnspecifiedMatching +OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:29288 semapv:UnspecifiedMatching +OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:FAM234B semapv:UnspecifiedMatching +OMIM:617838 FAM234B skos:exactMatch ncbigene:57613 semapv:UnspecifiedMatching +OMIM:617839 amyotrophic lateral sclerosis 23 skos:exactMatch MONDO:0027694 semapv:UnspecifiedMatching +OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:20286 semapv:UnspecifiedMatching +OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:TRIT1 semapv:UnspecifiedMatching +OMIM:617840 TRIT1 skos:exactMatch ncbigene:54802 semapv:UnspecifiedMatching +OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:22985 semapv:UnspecifiedMatching +OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:PSMA8 semapv:UnspecifiedMatching +OMIM:617841 PSMA8 skos:exactMatch ncbigene:143471 semapv:UnspecifiedMatching +OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:9554 semapv:UnspecifiedMatching +OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:PSMD1 semapv:UnspecifiedMatching +OMIM:617842 PSMD1 skos:exactMatch ncbigene:5707 semapv:UnspecifiedMatching +OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:1302 semapv:UnspecifiedMatching +OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:RWDD2B semapv:UnspecifiedMatching +OMIM:617843 RWDD2B skos:exactMatch ncbigene:10069 semapv:UnspecifiedMatching +OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:9566 semapv:UnspecifiedMatching +OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:PSMD8 semapv:UnspecifiedMatching +OMIM:617844 PSMD8 skos:exactMatch ncbigene:5714 semapv:UnspecifiedMatching +OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:37207 semapv:UnspecifiedMatching +OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:MFSD2B semapv:UnspecifiedMatching +OMIM:617845 MFSD2B skos:exactMatch ncbigene:388931 semapv:UnspecifiedMatching +OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:18000 semapv:UnspecifiedMatching +OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:PHF5A semapv:UnspecifiedMatching +OMIM:617846 PHF5A skos:exactMatch ncbigene:84844 semapv:UnspecifiedMatching +OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:21083 semapv:UnspecifiedMatching +OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:SF3B5 semapv:UnspecifiedMatching +OMIM:617847 SF3B5 skos:exactMatch ncbigene:83443 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch UMLS:C1425701 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:18681 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:DDX46 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch ncbigene:9879 semapv:UnspecifiedMatching +OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:30855 semapv:UnspecifiedMatching +OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:U2SURP semapv:UnspecifiedMatching +OMIM:617849 U2SURP skos:exactMatch ncbigene:23350 semapv:UnspecifiedMatching +OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:17932 semapv:UnspecifiedMatching +OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:SERTAD1 semapv:UnspecifiedMatching +OMIM:617850 SERTAD1 skos:exactMatch ncbigene:29950 semapv:UnspecifiedMatching +OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:30784 semapv:UnspecifiedMatching +OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:SERTAD2 semapv:UnspecifiedMatching +OMIM:617851 SERTAD2 skos:exactMatch ncbigene:9792 semapv:UnspecifiedMatching +OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:17018 semapv:UnspecifiedMatching +OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:SEC23IP semapv:UnspecifiedMatching +OMIM:617852 SEC23IP skos:exactMatch ncbigene:11196 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch UMLS:C1824548 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch hgnc.symbol:29204 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch hgnc.symbol:SVBP semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch ncbigene:374969 semapv:UnspecifiedMatching +OMIM:617854 intellectual developmental disorder, autosomal dominant 56 skos:exactMatch MONDO:0030922 semapv:UnspecifiedMatching +OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:26475 semapv:UnspecifiedMatching +OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:BMT2 semapv:UnspecifiedMatching +OMIM:617855 BMT2 skos:exactMatch ncbigene:154743 semapv:UnspecifiedMatching +OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:16839 semapv:UnspecifiedMatching +OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:THEMIS2 semapv:UnspecifiedMatching +OMIM:617856 THEMIS2 skos:exactMatch ncbigene:9473 semapv:UnspecifiedMatching +OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:9564 semapv:UnspecifiedMatching +OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:PSMD6 semapv:UnspecifiedMatching +OMIM:617857 PSMD6 skos:exactMatch ncbigene:9861 semapv:UnspecifiedMatching +OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:9571 semapv:UnspecifiedMatching +OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:PSMF1 semapv:UnspecifiedMatching +OMIM:617858 PSMF1 skos:exactMatch ncbigene:9491 semapv:UnspecifiedMatching +OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:16864 semapv:UnspecifiedMatching +OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:DLGAP5 semapv:UnspecifiedMatching +OMIM:617859 DLGAP5 skos:exactMatch ncbigene:9787 semapv:UnspecifiedMatching +OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:18387 semapv:UnspecifiedMatching +OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:SFTA3 semapv:UnspecifiedMatching +OMIM:617860 SFTA3 skos:exactMatch ncbigene:253970 semapv:UnspecifiedMatching +OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:20178 semapv:UnspecifiedMatching +OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:MYPOP semapv:UnspecifiedMatching +OMIM:617861 MYPOP skos:exactMatch ncbigene:339344 semapv:UnspecifiedMatching +OMIM:617862 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch MONDO:0060640 semapv:UnspecifiedMatching +OMIM:617863 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch MONDO:0029465 semapv:UnspecifiedMatching +OMIM:617864 neurodevelopmental disorder with or without seizures and gait abnormalities skos:exactMatch MONDO:0060641 semapv:UnspecifiedMatching +OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch MONDO:0060642 semapv:UnspecifiedMatching +OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch UMLS:C4693405 semapv:UnspecifiedMatching +OMIM:617866 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch MONDO:0036483 semapv:UnspecifiedMatching +OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:16842 semapv:UnspecifiedMatching +OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:TP53I11 semapv:UnspecifiedMatching +OMIM:617867 TP53I11 skos:exactMatch ncbigene:9537 semapv:UnspecifiedMatching +OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:25126 semapv:UnspecifiedMatching +OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:NAF1 semapv:UnspecifiedMatching +OMIM:617868 NAF1 skos:exactMatch ncbigene:92345 semapv:UnspecifiedMatching +OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:24975 semapv:UnspecifiedMatching +OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:NKX1-1 semapv:UnspecifiedMatching +OMIM:617869 NKX1-1 skos:exactMatch ncbigene:54729 semapv:UnspecifiedMatching +OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:24238 semapv:UnspecifiedMatching +OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:CEP350 semapv:UnspecifiedMatching +OMIM:617870 CEP350 skos:exactMatch ncbigene:9857 semapv:UnspecifiedMatching +OMIM:617871 retinitis pigmentosa 81 skos:exactMatch MONDO:0036482 semapv:UnspecifiedMatching +OMIM:617872 combined oxidative phosphorylation deficiency 34 skos:exactMatch MONDO:0054741 semapv:UnspecifiedMatching +OMIM:617873 combined oxidative phosphorylation deficiency 35 skos:exactMatch MONDO:0054742 semapv:UnspecifiedMatching +OMIM:617874 polycystic liver disease 3 with or without kidney cysts skos:exactMatch MONDO:0054743 semapv:UnspecifiedMatching +OMIM:617875 polycystic liver disease 4 with or without kidney cysts skos:exactMatch MONDO:0044327 semapv:UnspecifiedMatching +OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:34033 semapv:UnspecifiedMatching +OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:RNU7-1 semapv:UnspecifiedMatching +OMIM:617876 RNU7-1 skos:exactMatch ncbigene:100147744 semapv:UnspecifiedMatching +OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch MONDO:0100297 semapv:UnspecifiedMatching +OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:24071 semapv:UnspecifiedMatching +OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:TUBA3D semapv:UnspecifiedMatching +OMIM:617878 TUBA3D skos:exactMatch ncbigene:113457 semapv:UnspecifiedMatching +OMIM:617879 leber congenital amaurosis with early-onset deafness skos:exactMatch MONDO:0060650 semapv:UnspecifiedMatching +OMIM:617880 POC5 skos:exactMatch hgnc.symbol:26658 semapv:UnspecifiedMatching +OMIM:617880 POC5 skos:exactMatch hgnc.symbol:POC5 semapv:UnspecifiedMatching +OMIM:617880 POC5 skos:exactMatch ncbigene:134359 semapv:UnspecifiedMatching +OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:27741 semapv:UnspecifiedMatching +OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:C4orf54 semapv:UnspecifiedMatching +OMIM:617881 C4ORF54 skos:exactMatch ncbigene:285556 semapv:UnspecifiedMatching +OMIM:617882 charcot-marie-tooth disease, dominant intermediate g skos:exactMatch MONDO:0036484 semapv:UnspecifiedMatching +OMIM:617883 fanconi anemia, complementation group s skos:exactMatch MONDO:0054748 semapv:UnspecifiedMatching +OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:14680 semapv:UnspecifiedMatching +OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:HDGFL2 semapv:UnspecifiedMatching +OMIM:617884 HDGFL2 skos:exactMatch ncbigene:84717 semapv:UnspecifiedMatching +OMIM:617885 body mass index quantitative trait locus 19 skos:exactMatch MONDO:0054749 semapv:UnspecifiedMatching +OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:29212 semapv:UnspecifiedMatching +OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:ZNF512B semapv:UnspecifiedMatching +OMIM:617886 ZNF512B skos:exactMatch ncbigene:57473 semapv:UnspecifiedMatching +OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:18407 semapv:UnspecifiedMatching +OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:AGMAT semapv:UnspecifiedMatching +OMIM:617887 AGMAT skos:exactMatch ncbigene:79814 semapv:UnspecifiedMatching +OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:29473 semapv:UnspecifiedMatching +OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:ZNF580 semapv:UnspecifiedMatching +OMIM:617888 ZNF580 skos:exactMatch ncbigene:51157 semapv:UnspecifiedMatching +OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:23517 semapv:UnspecifiedMatching +OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:PYROXD2 semapv:UnspecifiedMatching +OMIM:617889 PYROXD2 skos:exactMatch ncbigene:84795 semapv:UnspecifiedMatching +OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:25406 semapv:UnspecifiedMatching +OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:ZNF664 semapv:UnspecifiedMatching +OMIM:617890 ZNF664 skos:exactMatch ncbigene:144348 semapv:UnspecifiedMatching +OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:30899 semapv:UnspecifiedMatching +OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:ZNF655 semapv:UnspecifiedMatching +OMIM:617891 ZNF655 skos:exactMatch ncbigene:79027 semapv:UnspecifiedMatching +OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch MONDO:0054750 semapv:UnspecifiedMatching +OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching +OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch UMLS:C4693523 semapv:UnspecifiedMatching +OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:13631 semapv:UnspecifiedMatching +OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:RPL36 semapv:UnspecifiedMatching +OMIM:617893 RPL36 skos:exactMatch ncbigene:25873 semapv:UnspecifiedMatching +OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:1280 semapv:UnspecifiedMatching +OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:TMEM50B semapv:UnspecifiedMatching +OMIM:617894 TMEM50B skos:exactMatch ncbigene:757 semapv:UnspecifiedMatching +OMIM:617895 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch MONDO:0033485 semapv:UnspecifiedMatching +OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:20322 semapv:UnspecifiedMatching +OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:ZIC5 semapv:UnspecifiedMatching +OMIM:617896 ZIC5 skos:exactMatch ncbigene:85416 semapv:UnspecifiedMatching +OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:33113 semapv:UnspecifiedMatching +OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:CSKMT semapv:UnspecifiedMatching +OMIM:617897 CSKMT skos:exactMatch ncbigene:751071 semapv:UnspecifiedMatching +OMIM:617898 multiple synostoses syndrome 4 skos:exactMatch MONDO:0054752 semapv:UnspecifiedMatching +OMIM:617899 leukodystrophy, hypomyelinating, 14 skos:exactMatch MONDO:0033486 semapv:UnspecifiedMatching +OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch MONDO:0054754 semapv:UnspecifiedMatching +OMIM:617901 DEXI skos:exactMatch hgnc.symbol:13267 semapv:UnspecifiedMatching +OMIM:617901 DEXI skos:exactMatch hgnc.symbol:DEXI semapv:UnspecifiedMatching +OMIM:617901 DEXI skos:exactMatch ncbigene:28955 semapv:UnspecifiedMatching +OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:25012 semapv:UnspecifiedMatching +OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:LGALSL semapv:UnspecifiedMatching +OMIM:617902 LGALSL skos:exactMatch ncbigene:29094 semapv:UnspecifiedMatching +OMIM:617903 neurodevelopmental disorder with poor language and loss of hand skills skos:exactMatch MONDO:0060659 semapv:UnspecifiedMatching +OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch MONDO:0033368 semapv:UnspecifiedMatching +OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching +OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:28859 semapv:UnspecifiedMatching +OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:HILPDA semapv:UnspecifiedMatching +OMIM:617905 HILPDA skos:exactMatch ncbigene:29923 semapv:UnspecifiedMatching +OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:29523 semapv:UnspecifiedMatching +OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:CFAP20 semapv:UnspecifiedMatching +OMIM:617906 CFAP20 skos:exactMatch ncbigene:29105 semapv:UnspecifiedMatching +OMIM:617907 erythrocytosis, familial, 5 skos:exactMatch MONDO:0033483 semapv:UnspecifiedMatching +OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:23239 semapv:UnspecifiedMatching +OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:ZNF473 semapv:UnspecifiedMatching +OMIM:617908 ZNF473 skos:exactMatch ncbigene:25888 semapv:UnspecifiedMatching +OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:17562 semapv:UnspecifiedMatching +OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:LSM10 semapv:UnspecifiedMatching +OMIM:617909 LSM10 skos:exactMatch ncbigene:84967 semapv:UnspecifiedMatching +OMIM:617910 LSM11 skos:exactMatch hgnc.symbol:30860 semapv:UnspecifiedMatching +OMIM:617910 LSM11 skos:exactMatch hgnc.symbol:LSM11 semapv:UnspecifiedMatching +OMIM:617910 LSM11 skos:exactMatch ncbigene:134353 semapv:UnspecifiedMatching +OMIM:617911 diamond-blackfan anemia-like skos:exactMatch MONDO:0060662 semapv:UnspecifiedMatching +OMIM:617911 diamond-blackfan anemia-like skos:exactMatch UMLS:C4693556 semapv:UnspecifiedMatching +OMIM:617912 congenital heart defects, multiple types, 5 skos:exactMatch MONDO:0060663 semapv:UnspecifiedMatching +OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch MONDO:0060664 semapv:UnspecifiedMatching +OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching +OMIM:617914 microcephaly 20, primary, autosomal recessive skos:exactMatch MONDO:0054761 semapv:UnspecifiedMatching +OMIM:617915 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome skos:exactMatch MONDO:0060666 semapv:UnspecifiedMatching +OMIM:617916 neurodegeneration with brain iron accumulation 7 skos:exactMatch MONDO:0054763 semapv:UnspecifiedMatching +OMIM:617916 neurodegeneration with brain iron accumulation 7 skos:exactMatch UMLS:C4693583 semapv:UnspecifiedMatching +OMIM:617917 neurodegeneration with brain iron accumulation 8 skos:exactMatch MONDO:0054764 semapv:UnspecifiedMatching +OMIM:617917 neurodegeneration with brain iron accumulation 8 skos:exactMatch UMLS:C4693587 semapv:UnspecifiedMatching +OMIM:617918 STRIP1 skos:exactMatch hgnc.symbol:25916 semapv:UnspecifiedMatching +OMIM:617918 STRIP1 skos:exactMatch hgnc.symbol:STRIP1 semapv:UnspecifiedMatching +OMIM:617918 STRIP1 skos:exactMatch ncbigene:85369 semapv:UnspecifiedMatching +OMIM:617919 STRIP2 skos:exactMatch hgnc.symbol:22209 semapv:UnspecifiedMatching +OMIM:617919 STRIP2 skos:exactMatch hgnc.symbol:STRIP2 semapv:UnspecifiedMatching +OMIM:617919 STRIP2 skos:exactMatch ncbigene:57464 semapv:UnspecifiedMatching +OMIM:617920 amyloidosis, primary localized cutaneous, 3 skos:exactMatch MONDO:0054765 semapv:UnspecifiedMatching +OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch MONDO:0060670 semapv:UnspecifiedMatching +OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch UMLS:C4693609 semapv:UnspecifiedMatching +OMIM:617922 GYPA skos:exactMatch hgnc.symbol:4702 semapv:UnspecifiedMatching +OMIM:617922 GYPA skos:exactMatch hgnc.symbol:GYPA semapv:UnspecifiedMatching +OMIM:617922 GYPA skos:exactMatch ncbigene:2993 semapv:UnspecifiedMatching +OMIM:617923 GYPB skos:exactMatch hgnc.symbol:4703 semapv:UnspecifiedMatching +OMIM:617923 GYPB skos:exactMatch hgnc.symbol:GYPB semapv:UnspecifiedMatching +OMIM:617923 GYPB skos:exactMatch ncbigene:2994 semapv:UnspecifiedMatching +OMIM:617924 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch MONDO:0060671 semapv:UnspecifiedMatching +OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch MONDO:0044328 semapv:UnspecifiedMatching +OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching +OMIM:617926 orofaciodigital syndrome 17 skos:exactMatch MONDO:0033375 semapv:UnspecifiedMatching +OMIM:617927 orofaciodigital syndrome 18 skos:exactMatch MONDO:0054770 semapv:UnspecifiedMatching +OMIM:617928 keratoconus 9 skos:exactMatch MONDO:0054771 semapv:UnspecifiedMatching +OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch MONDO:0033369 semapv:UnspecifiedMatching +OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching +OMIM:617930 chromosome 1p35 deletion syndrome skos:exactMatch MONDO:0060677 semapv:UnspecifiedMatching +OMIM:617931 spinocerebellar ataxia 47 skos:exactMatch MONDO:0033482 semapv:UnspecifiedMatching +OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:19974 semapv:UnspecifiedMatching +OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:RHPN2 semapv:UnspecifiedMatching +OMIM:617932 RHPN2 skos:exactMatch ncbigene:85415 semapv:UnspecifiedMatching +OMIM:617933 developmental and epileptic encephalopathy 61 skos:exactMatch MONDO:0033370 semapv:UnspecifiedMatching +OMIM:617933 developmental and epileptic encephalopathy 61 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching +OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:24051 semapv:UnspecifiedMatching +OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:AEBP2 semapv:UnspecifiedMatching +OMIM:617934 AEBP2 skos:exactMatch ncbigene:121536 semapv:UnspecifiedMatching +OMIM:617935 epilepsy, familial focal, with variable foci 4 skos:exactMatch MONDO:0054776 semapv:UnspecifiedMatching +OMIM:617935 epilepsy, familial focal, with variable foci 4 skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch MONDO:0015270 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C0268379 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1283400 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1867467 semapv:UnspecifiedMatching +OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:9897 semapv:UnspecifiedMatching +OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:RBM11 semapv:UnspecifiedMatching +OMIM:617937 RBM11 skos:exactMatch ncbigene:54033 semapv:UnspecifiedMatching +OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch MONDO:0033371 semapv:UnspecifiedMatching +OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching +OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:24708 semapv:UnspecifiedMatching +OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:ZFP69 semapv:UnspecifiedMatching +OMIM:617939 ZFP69 skos:exactMatch ncbigene:339559 semapv:UnspecifiedMatching +OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:20364 semapv:UnspecifiedMatching +OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:PLEKHG3 semapv:UnspecifiedMatching +OMIM:617940 PLEKHG3 skos:exactMatch ncbigene:26030 semapv:UnspecifiedMatching +OMIM:617941 shwachman-diamond syndrome 2 skos:exactMatch MONDO:0044205 semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch UMLS:C1825237 semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:28756 semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:ABHD17A semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch ncbigene:81926 semapv:UnspecifiedMatching +OMIM:617943 ABHD17B skos:exactMatch UMLS:C1428366 semapv:UnspecifiedMatching +OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:24278 semapv:UnspecifiedMatching +OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:ABHD17B semapv:UnspecifiedMatching +OMIM:617943 ABHD17B skos:exactMatch ncbigene:51104 semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch UMLS:C3541169 semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:26925 semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:ABHD17C semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch ncbigene:58489 semapv:UnspecifiedMatching +OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:21019 semapv:UnspecifiedMatching +OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:BTBD8 semapv:UnspecifiedMatching +OMIM:617945 BTBD8 skos:exactMatch ncbigene:284697 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch UMLS:C1825061 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:29205 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:ERGIC1 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch ncbigene:57222 semapv:UnspecifiedMatching +OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:25529 semapv:UnspecifiedMatching +OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:WDR74 semapv:UnspecifiedMatching +OMIM:617947 WDR74 skos:exactMatch ncbigene:54663 semapv:UnspecifiedMatching +OMIM:617948 elliptocytosis 3 skos:exactMatch MONDO:0054780 semapv:UnspecifiedMatching +OMIM:617948 elliptocytosis 3 skos:exactMatch Orphanet:288 semapv:UnspecifiedMatching +OMIM:617948 elliptocytosis 3 skos:exactMatch UMLS:C1866810 semapv:UnspecifiedMatching +OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:26107 semapv:UnspecifiedMatching +OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:CFAP69 semapv:UnspecifiedMatching +OMIM:617949 CFAP69 skos:exactMatch ncbigene:79846 semapv:UnspecifiedMatching +OMIM:617950 combined oxidative phosphorylation deficiency 36 skos:exactMatch MONDO:0054781 semapv:UnspecifiedMatching +OMIM:617951 leukodystrophy, hypomyelinating, 15 skos:exactMatch MONDO:0054782 semapv:UnspecifiedMatching +OMIM:617952 osteogenesis imperfecta, iia 18 skos:exactMatch MONDO:0044329 semapv:UnspecifiedMatching +OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:exactMatch MONDO:0060688 semapv:UnspecifiedMatching +OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch MONDO:0054785 semapv:UnspecifiedMatching +OMIM:617955 phenytoin toxicity skos:exactMatch MONDO:0060690 semapv:UnspecifiedMatching +OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:28318 semapv:UnspecifiedMatching +OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:LRRIQ3 semapv:UnspecifiedMatching +OMIM:617957 LRRIQ3 skos:exactMatch ncbigene:127255 semapv:UnspecifiedMatching +OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:29154 semapv:UnspecifiedMatching +OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:ICE1 semapv:UnspecifiedMatching +OMIM:617958 ICE1 skos:exactMatch ncbigene:23379 semapv:UnspecifiedMatching +OMIM:617959 spermatogenic failure 24 skos:exactMatch MONDO:0054728 semapv:UnspecifiedMatching +OMIM:617960 spermatogenic failure 25 skos:exactMatch MONDO:0054729 semapv:UnspecifiedMatching +OMIM:617961 spermatogenic failure 26 skos:exactMatch MONDO:0054730 semapv:UnspecifiedMatching +OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:27193 semapv:UnspecifiedMatching +OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:ZNF827 semapv:UnspecifiedMatching +OMIM:617962 ZNF827 skos:exactMatch ncbigene:152485 semapv:UnspecifiedMatching +OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:20122 semapv:UnspecifiedMatching +OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:TDRD9 semapv:UnspecifiedMatching +OMIM:617963 TDRD9 skos:exactMatch ncbigene:122402 semapv:UnspecifiedMatching +OMIM:617964 leukodystrophy, hypomyelinating, 16 skos:exactMatch MONDO:0054791 semapv:UnspecifiedMatching +OMIM:617965 spermatogenic failure 27 skos:exactMatch MONDO:0054731 semapv:UnspecifiedMatching +OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies skos:exactMatch MONDO:0054794 semapv:UnspecifiedMatching +OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:30711 semapv:UnspecifiedMatching +OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:DNAI3 semapv:UnspecifiedMatching +OMIM:617968 WDR63 skos:exactMatch ncbigene:126820 semapv:UnspecifiedMatching +OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:26669 semapv:UnspecifiedMatching +OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:CCDC63 semapv:UnspecifiedMatching +OMIM:617969 CCDC63 skos:exactMatch ncbigene:160762 semapv:UnspecifiedMatching +OMIM:617971 methemoglobinemia, beta iia skos:exactMatch MONDO:0018023 semapv:UnspecifiedMatching +OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:20749 semapv:UnspecifiedMatching +OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:ZDHHC20 semapv:UnspecifiedMatching +OMIM:617972 ZDHHC20 skos:exactMatch ncbigene:253832 semapv:UnspecifiedMatching +OMIM:617973 methemoglobinemia, alpha iia skos:exactMatch MONDO:0020835 semapv:UnspecifiedMatching +OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco iia skos:exactMatch MONDO:0060702 semapv:UnspecifiedMatching +OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:28346 semapv:UnspecifiedMatching +OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:FAM210A semapv:UnspecifiedMatching +OMIM:617975 FAM210A skos:exactMatch ncbigene:125228 semapv:UnspecifiedMatching +OMIM:617976 developmental and epileptic encephalopathy 63 skos:exactMatch MONDO:0033372 semapv:UnspecifiedMatching +OMIM:617976 developmental and epileptic encephalopathy 63 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching +OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:exactMatch MONDO:0060704 semapv:UnspecifiedMatching +OMIM:617978 CYRIB skos:exactMatch hgnc.symbol:25216 semapv:UnspecifiedMatching +OMIM:617978 CYRIB skos:exactMatch hgnc.symbol:CYRIB semapv:UnspecifiedMatching +OMIM:617978 CYRIB skos:exactMatch ncbigene:51571 semapv:UnspecifiedMatching +OMIM:617979 long noncoding RNA near acod1 skos:exactMatch ncbigene:105370268 semapv:UnspecifiedMatching +OMIM:617980 erythrocytosis, familial, 6 skos:exactMatch MONDO:0054801 semapv:UnspecifiedMatching +OMIM:617981 erythrocytosis, familial, 7 skos:exactMatch MONDO:0054802 semapv:UnspecifiedMatching +OMIM:617982 ververi-brady syndrome skos:exactMatch MONDO:0060707 semapv:UnspecifiedMatching +OMIM:617983 microcephaly 21, primary, autosomal recessive skos:exactMatch MONDO:0054804 semapv:UnspecifiedMatching +OMIM:617984 microcephaly 22, primary, autosomal recessive skos:exactMatch MONDO:0054805 semapv:UnspecifiedMatching +OMIM:617985 microcephaly 23, primary, autosomal recessive skos:exactMatch MONDO:0054806 semapv:UnspecifiedMatching +OMIM:617986 LDLRAD3 skos:exactMatch hgnc.symbol:27046 semapv:UnspecifiedMatching +OMIM:617986 LDLRAD3 skos:exactMatch hgnc.symbol:LDLRAD3 semapv:UnspecifiedMatching +OMIM:617986 LDLRAD3 skos:exactMatch ncbigene:143458 semapv:UnspecifiedMatching +OMIM:617987 METTL13 skos:exactMatch hgnc.symbol:24248 semapv:UnspecifiedMatching +OMIM:617987 METTL13 skos:exactMatch hgnc.symbol:METTL13 semapv:UnspecifiedMatching +OMIM:617987 METTL13 skos:exactMatch ncbigene:51603 semapv:UnspecifiedMatching +OMIM:617988 jaberi-elahi syndrome skos:exactMatch MONDO:0060711 semapv:UnspecifiedMatching +OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:19844 semapv:UnspecifiedMatching +OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:NAA30 semapv:UnspecifiedMatching +OMIM:617989 NAA30 skos:exactMatch ncbigene:122830 semapv:UnspecifiedMatching +OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:28212 semapv:UnspecifiedMatching +OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:NAA38 semapv:UnspecifiedMatching +OMIM:617990 NAA38 skos:exactMatch ncbigene:84316 semapv:UnspecifiedMatching +OMIM:617991 chung-jansen syndrome skos:exactMatch MONDO:0035133 semapv:UnspecifiedMatching +OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon skos:exactMatch MONDO:0060713 semapv:UnspecifiedMatching +OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch MONDO:0060714 semapv:UnspecifiedMatching +OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch UMLS:C4693863 semapv:UnspecifiedMatching +OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch MONDO:0060715 semapv:UnspecifiedMatching +OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch UMLS:C4693864 semapv:UnspecifiedMatching +OMIM:617996 oocyte/zygote/embryo maturation arrest 5 skos:exactMatch MONDO:0020837 semapv:UnspecifiedMatching +OMIM:617996 oocyte/zygote/embryo maturation arrest 5 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching +OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:30457 semapv:UnspecifiedMatching +OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:RCCD1 semapv:UnspecifiedMatching +OMIM:617997 RCCD1 skos:exactMatch ncbigene:91433 semapv:UnspecifiedMatching +OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:26136 semapv:UnspecifiedMatching +OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:GAREM1 semapv:UnspecifiedMatching +OMIM:617998 GAREM1 skos:exactMatch ncbigene:64762 semapv:UnspecifiedMatching +OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:27172 semapv:UnspecifiedMatching +OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:GAREM2 semapv:UnspecifiedMatching +OMIM:617999 GAREM2 skos:exactMatch ncbigene:150946 semapv:UnspecifiedMatching +OMIM:618000 ehlers-danlos syndrome, classic-like, 2 skos:exactMatch MONDO:0054813 semapv:UnspecifiedMatching +OMIM:618001 RELCH skos:exactMatch hgnc.symbol:29289 semapv:UnspecifiedMatching +OMIM:618001 RELCH skos:exactMatch hgnc.symbol:RELCH semapv:UnspecifiedMatching +OMIM:618001 RELCH skos:exactMatch ncbigene:57614 semapv:UnspecifiedMatching +OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:19037 semapv:UnspecifiedMatching +OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:MAST4 semapv:UnspecifiedMatching +OMIM:618002 MAST4 skos:exactMatch ncbigene:375449 semapv:UnspecifiedMatching +OMIM:618003 deafness, autosomal recessive 57 skos:exactMatch MONDO:0033201 semapv:UnspecifiedMatching +OMIM:618004 developmental and epileptic encephalopathy 64 skos:exactMatch MONDO:0033373 semapv:UnspecifiedMatching +OMIM:618004 developmental and epileptic encephalopathy 64 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching +OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 skos:exactMatch MONDO:0020775 semapv:UnspecifiedMatching +OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 skos:exactMatch UMLS:C4693905 semapv:UnspecifiedMatching +OMIM:618006 leukodystrophy, hypomyelinating, 17 skos:exactMatch MONDO:0054817 semapv:UnspecifiedMatching +OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch MONDO:0033374 semapv:UnspecifiedMatching +OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching +OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch MONDO:0032485 semapv:UnspecifiedMatching +OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching +OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch MONDO:0060724 semapv:UnspecifiedMatching +OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch UMLS:C4747891 semapv:UnspecifiedMatching +OMIM:618011 hyperekplexia 4 skos:exactMatch MONDO:0044330 semapv:UnspecifiedMatching +OMIM:618012 developmental and epileptic encephalopathy 93 skos:exactMatch MONDO:0020632 semapv:UnspecifiedMatching +OMIM:618013 deafness, autosomal recessive 109 skos:exactMatch MONDO:0033202 semapv:UnspecifiedMatching +OMIM:618014 premature ovarian failure 14 skos:exactMatch MONDO:0044777 semapv:UnspecifiedMatching +OMIM:618015 protoporphyria, erythropoietic, 2 skos:exactMatch MONDO:0060729 semapv:UnspecifiedMatching +OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:18666 semapv:UnspecifiedMatching +OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:RNPC3 semapv:UnspecifiedMatching +OMIM:618016 RNPC3 skos:exactMatch ncbigene:55599 semapv:UnspecifiedMatching +OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:23471 semapv:UnspecifiedMatching +OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:ANKRD16 semapv:UnspecifiedMatching +OMIM:618017 ANKRD16 skos:exactMatch ncbigene:54522 semapv:UnspecifiedMatching +OMIM:618019 rhizomelic skeletal dysplasia with or without pelger-huet anomaly skos:exactMatch MONDO:0018663 semapv:UnspecifiedMatching +OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:25888 semapv:UnspecifiedMatching +OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:KLHL22 semapv:UnspecifiedMatching +OMIM:618020 KLHL22 skos:exactMatch ncbigene:84861 semapv:UnspecifiedMatching +OMIM:618021 tetraamelia syndrome 2 skos:exactMatch MONDO:0060732 semapv:UnspecifiedMatching +OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency skos:exactMatch MONDO:0060733 semapv:UnspecifiedMatching +OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:31862 semapv:UnspecifiedMatching +OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:NOTCH2NLA semapv:UnspecifiedMatching +OMIM:618023 NOTCH2NLA skos:exactMatch ncbigene:388677 semapv:UnspecifiedMatching +OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:53923 semapv:UnspecifiedMatching +OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:NOTCH2NLB semapv:UnspecifiedMatching +OMIM:618024 NOTCH2NLB skos:exactMatch ncbigene:100996763 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C4747952 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:53924 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:NOTCH2NLC semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch ncbigene:100996717 semapv:UnspecifiedMatching +OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:53925 semapv:UnspecifiedMatching +OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:NOTCH2NLR semapv:UnspecifiedMatching +OMIM:618027 coffin-siris syndrome 7 skos:exactMatch MONDO:0054831 semapv:UnspecifiedMatching +OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:26318 semapv:UnspecifiedMatching +OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:SHLD1 semapv:UnspecifiedMatching +OMIM:618028 SHLD1 skos:exactMatch ncbigene:149840 semapv:UnspecifiedMatching +OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:28773 semapv:UnspecifiedMatching +OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:SHLD2 semapv:UnspecifiedMatching +OMIM:618029 SHLD2 skos:exactMatch ncbigene:54537 semapv:UnspecifiedMatching +OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:53826 semapv:UnspecifiedMatching +OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:SHLD3 semapv:UnspecifiedMatching +OMIM:618030 SHLD3 skos:exactMatch ncbigene:112441434 semapv:UnspecifiedMatching +OMIM:618031 corneal dystrophy, posterior polymorphous, 4 skos:exactMatch MONDO:0054832 semapv:UnspecifiedMatching +OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:26273 semapv:UnspecifiedMatching +OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:ZNF768 semapv:UnspecifiedMatching +OMIM:618032 ZNF768 skos:exactMatch ncbigene:79724 semapv:UnspecifiedMatching +OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:25173 semapv:UnspecifiedMatching +OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:ZNF689 semapv:UnspecifiedMatching +OMIM:618033 ZNF689 skos:exactMatch ncbigene:115509 semapv:UnspecifiedMatching +OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:17466 semapv:UnspecifiedMatching +OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:SLC43A3 semapv:UnspecifiedMatching +OMIM:618034 SLC43A3 skos:exactMatch ncbigene:29015 semapv:UnspecifiedMatching +OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:21710 semapv:UnspecifiedMatching +OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:TBC1D9 semapv:UnspecifiedMatching +OMIM:618035 TBC1D9 skos:exactMatch ncbigene:23158 semapv:UnspecifiedMatching +OMIM:618036 charcot-marie-tooth disease, axonal, iia 2dd skos:exactMatch MONDO:0054833 semapv:UnspecifiedMatching +OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:29025 semapv:UnspecifiedMatching +OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:ZNF536 semapv:UnspecifiedMatching +OMIM:618037 ZNF536 skos:exactMatch ncbigene:9745 semapv:UnspecifiedMatching +OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:26535 semapv:UnspecifiedMatching +OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:SHOC1 semapv:UnspecifiedMatching +OMIM:618038 SHOC1 skos:exactMatch ncbigene:158401 semapv:UnspecifiedMatching +OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:29097 semapv:UnspecifiedMatching +OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:TBC1D9B semapv:UnspecifiedMatching +OMIM:618039 TBC1D9B skos:exactMatch ncbigene:23061 semapv:UnspecifiedMatching +OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:16757 semapv:UnspecifiedMatching +OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:DGCR5 semapv:UnspecifiedMatching +OMIM:618040 DGCR5 skos:exactMatch ncbigene:26220 semapv:UnspecifiedMatching +OMIM:618041 PURG skos:exactMatch hgnc.symbol:17930 semapv:UnspecifiedMatching +OMIM:618041 PURG skos:exactMatch hgnc.symbol:PURG semapv:UnspecifiedMatching +OMIM:618041 PURG skos:exactMatch ncbigene:29942 semapv:UnspecifiedMatching +OMIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia skos:exactMatch MONDO:0020840 semapv:UnspecifiedMatching +OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:9224 semapv:UnspecifiedMatching +OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:POU6F1 semapv:UnspecifiedMatching +OMIM:618043 POU6F1 skos:exactMatch ncbigene:5463 semapv:UnspecifiedMatching +OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:29062 semapv:UnspecifiedMatching +OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:C2CD5 semapv:UnspecifiedMatching +OMIM:618044 C2CD5 skos:exactMatch ncbigene:9847 semapv:UnspecifiedMatching +OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:26351 semapv:UnspecifiedMatching +OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:DDIAS semapv:UnspecifiedMatching +OMIM:618045 DDIAS skos:exactMatch ncbigene:220042 semapv:UnspecifiedMatching +OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:8179 semapv:UnspecifiedMatching +OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:OR1A1 semapv:UnspecifiedMatching +OMIM:618046 OR1A1 skos:exactMatch ncbigene:8383 semapv:UnspecifiedMatching +OMIM:618047 OR1A2 skos:exactMatch hgnc.symbol:8180 semapv:UnspecifiedMatching +OMIM:618047 OR1A2 skos:exactMatch hgnc.symbol:OR1A2 semapv:UnspecifiedMatching +OMIM:618047 OR1A2 skos:exactMatch ncbigene:26189 semapv:UnspecifiedMatching +OMIM:618048 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch MONDO:0054700 semapv:UnspecifiedMatching +OMIM:618049 parkinsonism-dystonia 2, infantile-onset skos:exactMatch MONDO:0018130 semapv:UnspecifiedMatching +OMIM:618050 intellectual developmental disorder, autosomal dominant 57 skos:exactMatch MONDO:0054837 semapv:UnspecifiedMatching +OMIM:618051 INAVA skos:exactMatch hgnc.symbol:25599 semapv:UnspecifiedMatching +OMIM:618051 INAVA skos:exactMatch hgnc.symbol:INAVA semapv:UnspecifiedMatching +OMIM:618051 INAVA skos:exactMatch ncbigene:55765 semapv:UnspecifiedMatching +OMIM:618052 cardiomyopathy, familial hypertrophic, 27 skos:exactMatch MONDO:0054838 semapv:UnspecifiedMatching +OMIM:618053 ARLNC1 skos:exactMatch hgnc.symbol:53032 semapv:UnspecifiedMatching +OMIM:618053 ARLNC1 skos:exactMatch hgnc.symbol:ARLNC1 semapv:UnspecifiedMatching +OMIM:618053 ARLNC1 skos:exactMatch ncbigene:100996425 semapv:UnspecifiedMatching +OMIM:618054 MINAR1 skos:exactMatch hgnc.symbol:29172 semapv:UnspecifiedMatching +OMIM:618054 MINAR1 skos:exactMatch hgnc.symbol:MINAR1 semapv:UnspecifiedMatching +OMIM:618054 MINAR1 skos:exactMatch ncbigene:23251 semapv:UnspecifiedMatching +OMIM:618055 CREG1 skos:exactMatch hgnc.symbol:2351 semapv:UnspecifiedMatching +OMIM:618055 CREG1 skos:exactMatch hgnc.symbol:CREG1 semapv:UnspecifiedMatching +OMIM:618055 CREG1 skos:exactMatch ncbigene:8804 semapv:UnspecifiedMatching +OMIM:618056 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:exactMatch MONDO:0020841 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch UMLS:C1824336 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch UMLS:C4748052 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch hgnc.symbol:28188 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch hgnc.symbol:CFAP300 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch ncbigene:85016 semapv:UnspecifiedMatching +OMIM:618059 WDR25 skos:exactMatch hgnc.symbol:21064 semapv:UnspecifiedMatching +OMIM:618059 WDR25 skos:exactMatch hgnc.symbol:WDR25 semapv:UnspecifiedMatching +OMIM:618059 WDR25 skos:exactMatch ncbigene:79446 semapv:UnspecifiedMatching +OMIM:618060 intellectual developmental disorder with or without epilepsy or cerebellar ataxia skos:exactMatch MONDO:0060745 semapv:UnspecifiedMatching +OMIM:618061 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch MONDO:0054842 semapv:UnspecifiedMatching +OMIM:618062 CRISP3 skos:exactMatch hgnc.symbol:16904 semapv:UnspecifiedMatching +OMIM:618062 CRISP3 skos:exactMatch hgnc.symbol:CRISP3 semapv:UnspecifiedMatching +OMIM:618062 CRISP3 skos:exactMatch ncbigene:10321 semapv:UnspecifiedMatching +OMIM:618063 ciliary dyskinesia, primary, 38 skos:exactMatch MONDO:0054843 semapv:UnspecifiedMatching +OMIM:618064 COX16 skos:exactMatch hgnc.symbol:20213 semapv:UnspecifiedMatching +OMIM:618064 COX16 skos:exactMatch hgnc.symbol:COX16 semapv:UnspecifiedMatching +OMIM:618064 COX16 skos:exactMatch ncbigene:51241 semapv:UnspecifiedMatching +OMIM:618065 pontocerebellar hypoplasia, iia 1d skos:exactMatch MONDO:0054844 semapv:UnspecifiedMatching +OMIM:618065 pontocerebellar hypoplasia, iia 1d skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching +OMIM:618066 HOXBAS1 skos:exactMatch hgnc.symbol:43744 semapv:UnspecifiedMatching +OMIM:618066 HOXBAS1 skos:exactMatch hgnc.symbol:HOXB-AS1 semapv:UnspecifiedMatching +OMIM:618066 HOXBAS1 skos:exactMatch ncbigene:100874362 semapv:UnspecifiedMatching +OMIM:618067 developmental and epileptic encephalopathy 66 skos:exactMatch MONDO:0054845 semapv:UnspecifiedMatching +OMIM:618067 developmental and epileptic encephalopathy 66 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching +OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:30721 semapv:UnspecifiedMatching +OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:SPZ1 semapv:UnspecifiedMatching +OMIM:618068 SPZ1 skos:exactMatch ncbigene:84654 semapv:UnspecifiedMatching +OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:18042 semapv:UnspecifiedMatching +OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:CNOT6L semapv:UnspecifiedMatching +OMIM:618069 CNOT6L skos:exactMatch ncbigene:246175 semapv:UnspecifiedMatching +OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:18264 semapv:UnspecifiedMatching +OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:ATP6V1C2 semapv:UnspecifiedMatching +OMIM:618070 ATP6V1C2 skos:exactMatch ncbigene:245973 semapv:UnspecifiedMatching +OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:18265 semapv:UnspecifiedMatching +OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:ATP6V1G3 semapv:UnspecifiedMatching +OMIM:618071 ATP6V1G3 skos:exactMatch ncbigene:127124 semapv:UnspecifiedMatching +OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:18266 semapv:UnspecifiedMatching +OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:ATP6V0D2 semapv:UnspecifiedMatching +OMIM:618072 ATP6V0D2 skos:exactMatch ncbigene:245972 semapv:UnspecifiedMatching +OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:31750 semapv:UnspecifiedMatching +OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:SAMD12 semapv:UnspecifiedMatching +OMIM:618073 SAMD12 skos:exactMatch ncbigene:401474 semapv:UnspecifiedMatching +OMIM:618074 epilepsy, familial adult myoclonic, 6 skos:exactMatch MONDO:0054846 semapv:UnspecifiedMatching +OMIM:618074 epilepsy, familial adult myoclonic, 6 skos:exactMatch UMLS:C4748079 semapv:UnspecifiedMatching +OMIM:618075 epilepsy, familial adult myoclonic, 7 skos:exactMatch MONDO:0054847 semapv:UnspecifiedMatching +OMIM:618075 epilepsy, familial adult myoclonic, 7 skos:exactMatch UMLS:C4748080 semapv:UnspecifiedMatching +OMIM:618076 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch MONDO:0060752 semapv:UnspecifiedMatching +OMIM:618077 inflammatory bowel disease 29 skos:exactMatch MONDO:0054849 semapv:UnspecifiedMatching +OMIM:618077 inflammatory bowel disease 29 skos:exactMatch UMLS:C4748083 semapv:UnspecifiedMatching +OMIM:618078 ovarian dysgenesis 6 skos:exactMatch MONDO:0054850 semapv:UnspecifiedMatching +OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:20451 semapv:UnspecifiedMatching +OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:WDFY1 semapv:UnspecifiedMatching +OMIM:618080 WDFY1 skos:exactMatch ncbigene:57590 semapv:UnspecifiedMatching +OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:18131 semapv:UnspecifiedMatching +OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:ILDR2 semapv:UnspecifiedMatching +OMIM:618081 ILDR2 skos:exactMatch ncbigene:387597 semapv:UnspecifiedMatching +OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:25651 semapv:UnspecifiedMatching +OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:WDR33 semapv:UnspecifiedMatching +OMIM:618082 WDR33 skos:exactMatch ncbigene:55339 semapv:UnspecifiedMatching +OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:16461 semapv:UnspecifiedMatching +OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:WBP11 semapv:UnspecifiedMatching +OMIM:618083 WBP11 skos:exactMatch ncbigene:51729 semapv:UnspecifiedMatching +OMIM:618084 peeling skin syndrome 6 skos:exactMatch MONDO:0054852 semapv:UnspecifiedMatching +OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:17728 semapv:UnspecifiedMatching +OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:PMFBP1 semapv:UnspecifiedMatching +OMIM:618085 PMFBP1 skos:exactMatch ncbigene:83449 semapv:UnspecifiedMatching +OMIM:618086 spermatogenic failure 28 skos:exactMatch MONDO:0054732 semapv:UnspecifiedMatching +OMIM:618087 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits skos:exactMatch MONDO:0060758 semapv:UnspecifiedMatching +OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch MONDO:0060759 semapv:UnspecifiedMatching +OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch UMLS:C4748127 semapv:UnspecifiedMatching +OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch MONDO:0060760 semapv:UnspecifiedMatching +OMIM:618090 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0060761 semapv:UnspecifiedMatching +OMIM:618091 spermatogenic failure 29 skos:exactMatch MONDO:0054733 semapv:UnspecifiedMatching +OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:exactMatch MONDO:0060763 semapv:UnspecifiedMatching +OMIM:618093 spinocerebellar ataxia 48 skos:exactMatch MONDO:0032526 semapv:UnspecifiedMatching +OMIM:618094 deafness, autosomal recessive 110 skos:exactMatch MONDO:0054860 semapv:UnspecifiedMatching +OMIM:618095 intellectual developmental disorder, autosomal recessive 63 skos:exactMatch MONDO:0054861 semapv:UnspecifiedMatching +OMIM:618096 premature ovarian failure 15 skos:exactMatch MONDO:0054862 semapv:UnspecifiedMatching +OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch MONDO:0020628 semapv:UnspecifiedMatching +OMIM:618098 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 skos:exactMatch MONDO:0020845 semapv:UnspecifiedMatching +OMIM:618099 MRM1 skos:exactMatch hgnc.symbol:26202 semapv:UnspecifiedMatching +OMIM:618099 MRM1 skos:exactMatch hgnc.symbol:MRM1 semapv:UnspecifiedMatching +OMIM:618099 MRM1 skos:exactMatch ncbigene:79922 semapv:UnspecifiedMatching +OMIM:618100 MPV17L skos:exactMatch hgnc.symbol:26827 semapv:UnspecifiedMatching +OMIM:618100 MPV17L skos:exactMatch hgnc.symbol:MPV17L semapv:UnspecifiedMatching +OMIM:618100 MPV17L skos:exactMatch ncbigene:255027 semapv:UnspecifiedMatching +OMIM:618101 MMP27 skos:exactMatch hgnc.symbol:14250 semapv:UnspecifiedMatching +OMIM:618101 MMP27 skos:exactMatch hgnc.symbol:MMP27 semapv:UnspecifiedMatching +OMIM:618101 MMP27 skos:exactMatch ncbigene:64066 semapv:UnspecifiedMatching +OMIM:618102 SIMC1 skos:exactMatch hgnc.symbol:24779 semapv:UnspecifiedMatching +OMIM:618102 SIMC1 skos:exactMatch hgnc.symbol:SIMC1 semapv:UnspecifiedMatching +OMIM:618102 SIMC1 skos:exactMatch ncbigene:375484 semapv:UnspecifiedMatching +OMIM:618103 intellectual developmental disorder, autosomal recessive 64 skos:exactMatch MONDO:0020846 semapv:UnspecifiedMatching +OMIM:618104 MMEL1 skos:exactMatch hgnc.symbol:14668 semapv:UnspecifiedMatching +OMIM:618104 MMEL1 skos:exactMatch hgnc.symbol:MMEL1 semapv:UnspecifiedMatching +OMIM:618104 MMEL1 skos:exactMatch ncbigene:79258 semapv:UnspecifiedMatching +OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:27596 semapv:UnspecifiedMatching +OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:SIGLEC15 semapv:UnspecifiedMatching +OMIM:618105 SIGLEC15 skos:exactMatch ncbigene:284266 semapv:UnspecifiedMatching +OMIM:618106 intellectual developmental disorder, autosomal dominant 58 skos:exactMatch MONDO:0020847 semapv:UnspecifiedMatching +OMIM:618107 osteopetrosis, autosomal dominant 3 skos:exactMatch MONDO:0020848 semapv:UnspecifiedMatching +OMIM:618108 immunodeficiency 57 with autoinflammation skos:exactMatch MONDO:0020849 semapv:UnspecifiedMatching +OMIM:618108 immunodeficiency 57 with autoinflammation skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching +OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch MONDO:0020850 semapv:UnspecifiedMatching +OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch UMLS:C4748219 semapv:UnspecifiedMatching +OMIM:618110 spermatogenic failure 30 skos:exactMatch MONDO:0020851 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch UMLS:C1423846 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:15940 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:ZFP64 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch ncbigene:55734 semapv:UnspecifiedMatching +OMIM:618112 spermatogenic failure 31 skos:exactMatch MONDO:0020852 semapv:UnspecifiedMatching +OMIM:618113 encephalitis/encephalopathy, mild, with reversible myelin vacuolization skos:exactMatch MONDO:0020853 semapv:UnspecifiedMatching +OMIM:618114 liddle syndrome 2 skos:exactMatch MONDO:0020854 semapv:UnspecifiedMatching +OMIM:618114 liddle syndrome 2 skos:exactMatch Orphanet:526 semapv:UnspecifiedMatching +OMIM:618114 liddle syndrome 2 skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching +OMIM:618115 spermatogenic failure 32 skos:exactMatch MONDO:0020855 semapv:UnspecifiedMatching +OMIM:618116 bone marrow failure syndrome 4 skos:exactMatch MONDO:0020856 semapv:UnspecifiedMatching +OMIM:618117 ovarian dysgenesis 7 skos:exactMatch MONDO:0020857 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch UMLS:C1825051 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch hgnc.symbol:26666 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch hgnc.symbol:EML3 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch ncbigene:256364 semapv:UnspecifiedMatching +OMIM:618119 EML5 skos:exactMatch hgnc.symbol:18197 semapv:UnspecifiedMatching +OMIM:618119 EML5 skos:exactMatch hgnc.symbol:EML5 semapv:UnspecifiedMatching +OMIM:618119 EML5 skos:exactMatch ncbigene:161436 semapv:UnspecifiedMatching +OMIM:618120 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 5 skos:exactMatch MONDO:0020858 semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch UMLS:C1412666 semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:845 semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:ATP5PD semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch ncbigene:10476 semapv:UnspecifiedMatching +OMIM:618122 MTREX skos:exactMatch hgnc.symbol:18734 semapv:UnspecifiedMatching +OMIM:618122 MTREX skos:exactMatch hgnc.symbol:MTREX semapv:UnspecifiedMatching +OMIM:618122 MTREX skos:exactMatch ncbigene:23517 semapv:UnspecifiedMatching +OMIM:618123 polydactyly, postaxial, iia a8 skos:exactMatch MONDO:0029130 semapv:UnspecifiedMatching +OMIM:618124 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development skos:exactMatch MONDO:0029131 semapv:UnspecifiedMatching +OMIM:618125 KASH5 skos:exactMatch hgnc.symbol:26520 semapv:UnspecifiedMatching +OMIM:618125 KASH5 skos:exactMatch hgnc.symbol:KASH5 semapv:UnspecifiedMatching +OMIM:618125 KASH5 skos:exactMatch ncbigene:147872 semapv:UnspecifiedMatching +OMIM:618126 liddle syndrome 3 skos:exactMatch MONDO:0029132 semapv:UnspecifiedMatching +OMIM:618127 COX6B2 skos:exactMatch hgnc.symbol:24380 semapv:UnspecifiedMatching +OMIM:618127 COX6B2 skos:exactMatch hgnc.symbol:COX6B2 semapv:UnspecifiedMatching +OMIM:618127 COX6B2 skos:exactMatch ncbigene:125965 semapv:UnspecifiedMatching +OMIM:618128 GDAP2 skos:exactMatch hgnc.symbol:18010 semapv:UnspecifiedMatching +OMIM:618128 GDAP2 skos:exactMatch hgnc.symbol:GDAP2 semapv:UnspecifiedMatching +OMIM:618128 GDAP2 skos:exactMatch ncbigene:54834 semapv:UnspecifiedMatching +OMIM:618129 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:exactMatch MONDO:0029133 semapv:UnspecifiedMatching +OMIM:618130 NECAB2 skos:exactMatch hgnc.symbol:23746 semapv:UnspecifiedMatching +OMIM:618130 NECAB2 skos:exactMatch hgnc.symbol:NECAB2 semapv:UnspecifiedMatching +OMIM:618130 NECAB2 skos:exactMatch ncbigene:54550 semapv:UnspecifiedMatching +OMIM:618131 immunodeficiency 58 skos:exactMatch MONDO:0029134 semapv:UnspecifiedMatching +OMIM:618132 SIGLEC14 skos:exactMatch hgnc.symbol:32926 semapv:UnspecifiedMatching +OMIM:618132 SIGLEC14 skos:exactMatch hgnc.symbol:SIGLEC14 semapv:UnspecifiedMatching +OMIM:618132 SIGLEC14 skos:exactMatch ncbigene:100049587 semapv:UnspecifiedMatching +OMIM:618133 NXPE4 skos:exactMatch hgnc.symbol:23117 semapv:UnspecifiedMatching +OMIM:618133 NXPE4 skos:exactMatch hgnc.symbol:NXPE4 semapv:UnspecifiedMatching +OMIM:618133 NXPE4 skos:exactMatch ncbigene:54827 semapv:UnspecifiedMatching +OMIM:618134 UTS2B skos:exactMatch hgnc.symbol:30894 semapv:UnspecifiedMatching +OMIM:618134 UTS2B skos:exactMatch hgnc.symbol:UTS2B semapv:UnspecifiedMatching +OMIM:618134 UTS2B skos:exactMatch ncbigene:257313 semapv:UnspecifiedMatching +OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 skos:exactMatch MONDO:0029135 semapv:UnspecifiedMatching +OMIM:618136 MAD2L1BP skos:exactMatch hgnc.symbol:21059 semapv:UnspecifiedMatching +OMIM:618136 MAD2L1BP skos:exactMatch hgnc.symbol:MAD2L1BP semapv:UnspecifiedMatching +OMIM:618136 MAD2L1BP skos:exactMatch ncbigene:9587 semapv:UnspecifiedMatching +OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc.symbol:1286 semapv:UnspecifiedMatching +OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc.symbol:MIS18A semapv:UnspecifiedMatching +OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch ncbigene:54069 semapv:UnspecifiedMatching +OMIM:618138 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch MONDO:0029136 semapv:UnspecifiedMatching +OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:20190 semapv:UnspecifiedMatching +OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:MIS18BP1 semapv:UnspecifiedMatching +OMIM:618139 MIS18BP1 skos:exactMatch ncbigene:55320 semapv:UnspecifiedMatching +OMIM:618140 deafness, autosomal dominant 74 skos:exactMatch MONDO:0029137 semapv:UnspecifiedMatching +OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch MONDO:0029138 semapv:UnspecifiedMatching +OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching +OMIM:618142 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome skos:exactMatch MONDO:0020647 semapv:UnspecifiedMatching +OMIM:618143 developmental and epileptic encephalopathy 95 skos:exactMatch MONDO:0029140 semapv:UnspecifiedMatching +OMIM:618144 usher syndrome, iia 4 skos:exactMatch MONDO:0029141 semapv:UnspecifiedMatching +OMIM:618145 deafness, autosomal recessive 111 skos:exactMatch MONDO:0029142 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch UMLS:C1823830 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch UMLS:C4748395 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:28506 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:CFAP251 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch ncbigene:144406 semapv:UnspecifiedMatching +OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies skos:exactMatch MONDO:0029143 semapv:UnspecifiedMatching +OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch MONDO:0029144 semapv:UnspecifiedMatching +OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch Orphanet:562538 semapv:UnspecifiedMatching +OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch UMLS:C4748387 semapv:UnspecifiedMatching +OMIM:618149 orofacial cleft 8 skos:exactMatch MONDO:0029145 semapv:UnspecifiedMatching +OMIM:618149 orofacial cleft 8 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:618149 orofacial cleft 8 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching +OMIM:618150 saul-wilson syndrome skos:exactMatch MONDO:0019407 semapv:UnspecifiedMatching +OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:13922 semapv:UnspecifiedMatching +OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:TSBP1 semapv:UnspecifiedMatching +OMIM:618151 TSBP1 skos:exactMatch ncbigene:10665 semapv:UnspecifiedMatching +OMIM:618152 spermatogenic failure 33 skos:exactMatch MONDO:0029147 semapv:UnspecifiedMatching +OMIM:618153 spermatogenic failure 34 skos:exactMatch MONDO:0029148 semapv:UnspecifiedMatching +OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch MONDO:0032564 semapv:UnspecifiedMatching +OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies skos:exactMatch MONDO:0032565 semapv:UnspecifiedMatching +OMIM:618156 squalene synthase deficiency skos:exactMatch MONDO:0032566 semapv:UnspecifiedMatching +OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch MONDO:0032567 semapv:UnspecifiedMatching +OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch Orphanet:231671 semapv:UnspecifiedMatching +OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch UMLS:C4722273 semapv:UnspecifiedMatching +OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch MONDO:0032568 semapv:UnspecifiedMatching +OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch UMLS:C4748428 semapv:UnspecifiedMatching +OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:30595 semapv:UnspecifiedMatching +OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:PPP1R21 semapv:UnspecifiedMatching +OMIM:618159 PPP1R21 skos:exactMatch ncbigene:129285 semapv:UnspecifiedMatching +OMIM:618160 pituitary hormone deficiency, combined or isolated, 7 skos:exactMatch MONDO:0032569 semapv:UnspecifiedMatching +OMIM:618161 joubert syndrome 35 skos:exactMatch MONDO:0032570 semapv:UnspecifiedMatching +OMIM:618161 joubert syndrome 35 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +OMIM:618161 joubert syndrome 35 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching +OMIM:618162 spondyloepimetaphyseal dysplasia, krakow iia skos:exactMatch MONDO:0032571 semapv:UnspecifiedMatching +OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:28983 semapv:UnspecifiedMatching +OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:TMEM94 semapv:UnspecifiedMatching +OMIM:618163 TMEM94 skos:exactMatch ncbigene:9772 semapv:UnspecifiedMatching +OMIM:618164 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch MONDO:0032572 semapv:UnspecifiedMatching +OMIM:618164 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch UMLS:C4748484 semapv:UnspecifiedMatching +OMIM:618165 bone marrow failure syndrome 5 skos:exactMatch MONDO:0032573 semapv:UnspecifiedMatching +OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:26847 semapv:UnspecifiedMatching +OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:CNTD1 semapv:UnspecifiedMatching +OMIM:618166 CNTD1 skos:exactMatch ncbigene:124817 semapv:UnspecifiedMatching +OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:exactMatch MONDO:0032574 semapv:UnspecifiedMatching +OMIM:618168 diarrhea 9 skos:exactMatch MONDO:0032575 semapv:UnspecifiedMatching +OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:49513 semapv:UnspecifiedMatching +OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:PANTR1 semapv:UnspecifiedMatching +OMIM:618169 PANTR1 skos:exactMatch ncbigene:100506421 semapv:UnspecifiedMatching +OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures skos:exactMatch MONDO:0100095 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch UMLS:C1423791 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:15869 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:KIF16B semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch ncbigene:55614 semapv:UnspecifiedMatching +OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:40992 semapv:UnspecifiedMatching +OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:LUARIS semapv:UnspecifiedMatching +OMIM:618172 LUARIS skos:exactMatch ncbigene:100506895 semapv:UnspecifiedMatching +OMIM:618173 retinitis pigmentosa 83 skos:exactMatch MONDO:0032577 semapv:UnspecifiedMatching +OMIM:618173 retinitis pigmentosa 83 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:618173 retinitis pigmentosa 83 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching +OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 skos:exactMatch MONDO:0032578 semapv:UnspecifiedMatching +OMIM:618175 warburg-cinotti syndrome skos:exactMatch MONDO:0032579 semapv:UnspecifiedMatching +OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch MONDO:0032580 semapv:UnspecifiedMatching +OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch UMLS:C4748545 semapv:UnspecifiedMatching +OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch MONDO:0032581 semapv:UnspecifiedMatching +OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch UMLS:C4748549 semapv:UnspecifiedMatching +OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch MONDO:0032582 semapv:UnspecifiedMatching +OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch UMLS:C4748552 semapv:UnspecifiedMatching +OMIM:618179 microcephaly 24, primary, autosomal recessive skos:exactMatch MONDO:0032583 semapv:UnspecifiedMatching +OMIM:618180 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis skos:exactMatch MONDO:0032584 semapv:UnspecifiedMatching +OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:16740 semapv:UnspecifiedMatching +OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:ZBTB11 semapv:UnspecifiedMatching +OMIM:618181 ZBTB11 skos:exactMatch ncbigene:27107 semapv:UnspecifiedMatching +OMIM:618182 orthostatic hypotension 2 skos:exactMatch MONDO:0020751 semapv:UnspecifiedMatching +OMIM:618183 diarrhea 10, protein-losing enteropathy iia skos:exactMatch MONDO:0032586 semapv:UnspecifiedMatching +OMIM:618184 neuropathy, congenital hypomyelinating, 2 skos:exactMatch MONDO:0020765 semapv:UnspecifiedMatching +OMIM:618185 periventricular nodular heterotopia 8 skos:exactMatch MONDO:0032588 semapv:UnspecifiedMatching +OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch MONDO:0020766 semapv:UnspecifiedMatching +OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching +OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch UMLS:C4748608 semapv:UnspecifiedMatching +OMIM:618187 ovarian dysgenesis 8 skos:exactMatch MONDO:0032590 semapv:UnspecifiedMatching +OMIM:618188 hyperparathyroidism, transient neonatal skos:exactMatch MONDO:0032591 semapv:UnspecifiedMatching +OMIM:618189 cardiomyopathy, dilated, 2c skos:exactMatch MONDO:0032592 semapv:UnspecifiedMatching +OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:48498 semapv:UnspecifiedMatching +OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:LUCAT1 semapv:UnspecifiedMatching +OMIM:618190 LUCAT1 skos:exactMatch ncbigene:100505994 semapv:UnspecifiedMatching +OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:28834 semapv:UnspecifiedMatching +OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:CEACAM21 semapv:UnspecifiedMatching +OMIM:618191 CEACAM21 skos:exactMatch ncbigene:90273 semapv:UnspecifiedMatching +OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:49593 semapv:UnspecifiedMatching +OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:PCAT19 semapv:UnspecifiedMatching +OMIM:618192 PCAT19 skos:exactMatch ncbigene:100505495 semapv:UnspecifiedMatching +OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch MONDO:0020750 semapv:UnspecifiedMatching +OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch Orphanet:2770 semapv:UnspecifiedMatching +OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching +OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:26641 semapv:UnspecifiedMatching +OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:SSC5D semapv:UnspecifiedMatching +OMIM:618194 SSC5D skos:exactMatch ncbigene:284297 semapv:UnspecifiedMatching +OMIM:618195 intellectual developmental disorder and retinitis pigmentosa skos:exactMatch MONDO:0032594 semapv:UnspecifiedMatching +OMIM:618196 capillary malformation-arteriovenous malformation 2 skos:exactMatch MONDO:0020785 semapv:UnspecifiedMatching +OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch MONDO:0032596 semapv:UnspecifiedMatching +OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch Orphanet:98914 semapv:UnspecifiedMatching +OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching +OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch MONDO:0032597 semapv:UnspecifiedMatching +OMIM:618199 A1CF skos:exactMatch hgnc.symbol:24086 semapv:UnspecifiedMatching +OMIM:618199 A1CF skos:exactMatch hgnc.symbol:A1CF semapv:UnspecifiedMatching +OMIM:618199 A1CF skos:exactMatch ncbigene:29974 semapv:UnspecifiedMatching +OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:18302 semapv:UnspecifiedMatching +OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:MDN1 semapv:UnspecifiedMatching +OMIM:618200 MDN1 skos:exactMatch ncbigene:23195 semapv:UnspecifiedMatching +OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch MONDO:0032598 semapv:UnspecifiedMatching +OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching +OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:16410 semapv:UnspecifiedMatching +OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:DNAJC30 semapv:UnspecifiedMatching +OMIM:618202 DNAJC30 skos:exactMatch ncbigene:84277 semapv:UnspecifiedMatching +OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:25904 semapv:UnspecifiedMatching +OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:TMTC4 semapv:UnspecifiedMatching +OMIM:618203 TMTC4 skos:exactMatch ncbigene:84899 semapv:UnspecifiedMatching +OMIM:618204 immunodeficiency 15a skos:exactMatch MONDO:0032599 semapv:UnspecifiedMatching +OMIM:618204 immunodeficiency 15a skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching +OMIM:618204 immunodeficiency 15a skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching +OMIM:618205 snijders blok-campeau syndrome skos:exactMatch MONDO:0032600 semapv:UnspecifiedMatching +OMIM:618206 ZC3H7B skos:exactMatch hgnc.symbol:30869 semapv:UnspecifiedMatching +OMIM:618206 ZC3H7B skos:exactMatch hgnc.symbol:ZC3H7B semapv:UnspecifiedMatching +OMIM:618206 ZC3H7B skos:exactMatch ncbigene:23264 semapv:UnspecifiedMatching +OMIM:618207 SCFD1 skos:exactMatch hgnc.symbol:20726 semapv:UnspecifiedMatching +OMIM:618207 SCFD1 skos:exactMatch hgnc.symbol:SCFD1 semapv:UnspecifiedMatching +OMIM:618207 SCFD1 skos:exactMatch ncbigene:23256 semapv:UnspecifiedMatching +OMIM:618208 LINC01159 skos:exactMatch hgnc.symbol:49514 semapv:UnspecifiedMatching +OMIM:618208 LINC01159 skos:exactMatch hgnc.symbol:LINC01159 semapv:UnspecifiedMatching +OMIM:618208 LINC01159 skos:exactMatch ncbigene:102682016 semapv:UnspecifiedMatching +OMIM:618209 HAGLR skos:exactMatch hgnc.symbol:43755 semapv:UnspecifiedMatching +OMIM:618209 HAGLR skos:exactMatch hgnc.symbol:HAGLR semapv:UnspecifiedMatching +OMIM:618209 HAGLR skos:exactMatch ncbigene:401022 semapv:UnspecifiedMatching +OMIM:618210 RFTN1 skos:exactMatch hgnc.symbol:30278 semapv:UnspecifiedMatching +OMIM:618210 RFTN1 skos:exactMatch hgnc.symbol:RFTN1 semapv:UnspecifiedMatching +OMIM:618210 RFTN1 skos:exactMatch ncbigene:23180 semapv:UnspecifiedMatching +OMIM:618211 PITRM1 skos:exactMatch hgnc.symbol:17663 semapv:UnspecifiedMatching +OMIM:618211 PITRM1 skos:exactMatch hgnc.symbol:PITRM1 semapv:UnspecifiedMatching +OMIM:618211 PITRM1 skos:exactMatch ncbigene:10531 semapv:UnspecifiedMatching +OMIM:618212 LINC-PINT skos:exactMatch hgnc.symbol:26885 semapv:UnspecifiedMatching +OMIM:618212 LINC-PINT skos:exactMatch hgnc.symbol:LINC-PINT semapv:UnspecifiedMatching +OMIM:618212 LINC-PINT skos:exactMatch ncbigene:378805 semapv:UnspecifiedMatching +OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch MONDO:0032601 semapv:UnspecifiedMatching +OMIM:618214 LINC01157 skos:exactMatch hgnc.symbol:49512 semapv:UnspecifiedMatching +OMIM:618214 LINC01157 skos:exactMatch hgnc.symbol:LINC01157 semapv:UnspecifiedMatching +OMIM:618214 LINC01157 skos:exactMatch ncbigene:105379037 semapv:UnspecifiedMatching +OMIM:618215 RFTN2 skos:exactMatch hgnc.symbol:26402 semapv:UnspecifiedMatching +OMIM:618215 RFTN2 skos:exactMatch hgnc.symbol:RFTN2 semapv:UnspecifiedMatching +OMIM:618215 RFTN2 skos:exactMatch ncbigene:130132 semapv:UnspecifiedMatching +OMIM:618216 MIRLET7BHG skos:exactMatch hgnc.symbol:37189 semapv:UnspecifiedMatching +OMIM:618216 MIRLET7BHG skos:exactMatch hgnc.symbol:MIRLET7BHG semapv:UnspecifiedMatching +OMIM:618216 MIRLET7BHG skos:exactMatch ncbigene:400931 semapv:UnspecifiedMatching +OMIM:618217 ELDR skos:exactMatch hgnc.symbol:49511 semapv:UnspecifiedMatching +OMIM:618217 ELDR skos:exactMatch hgnc.symbol:ELDR semapv:UnspecifiedMatching +OMIM:618217 ELDR skos:exactMatch ncbigene:102725541 semapv:UnspecifiedMatching +OMIM:618218 baker-gordon syndrome skos:exactMatch MONDO:0033864 semapv:UnspecifiedMatching +OMIM:618219 polydactyly, postaxial, iia a9 skos:exactMatch MONDO:0032603 semapv:UnspecifiedMatching +OMIM:618220 retinitis pigmentosa 84 skos:exactMatch MONDO:0032604 semapv:UnspecifiedMatching +OMIM:618220 retinitis pigmentosa 84 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:618220 retinitis pigmentosa 84 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching +OMIM:618221 intellectual developmental disorder, autosomal recessive 66 skos:exactMatch MONDO:0032605 semapv:UnspecifiedMatching +OMIM:618222 mitochondrial complex 1 deficiency, nuclear iia 2 skos:exactMatch MONDO:0032606 semapv:UnspecifiedMatching +OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction skos:exactMatch MONDO:0032607 semapv:UnspecifiedMatching +OMIM:618224 mitochondrial complex 1 deficiency, nuclear iia 3 skos:exactMatch MONDO:0032608 semapv:UnspecifiedMatching +OMIM:618225 mitochondrial complex 1 deficiency, nuclear iia 4 skos:exactMatch MONDO:0032609 semapv:UnspecifiedMatching +OMIM:618226 mitochondrial complex 1 deficiency, nuclear iia 5 skos:exactMatch MONDO:0032610 semapv:UnspecifiedMatching +OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:25430 semapv:UnspecifiedMatching +OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:LRRC56 semapv:UnspecifiedMatching +OMIM:618227 LRRC56 skos:exactMatch ncbigene:115399 semapv:UnspecifiedMatching +OMIM:618228 mitochondrial complex 1 deficiency, nuclear iia 6 skos:exactMatch MONDO:0032611 semapv:UnspecifiedMatching +OMIM:618229 mitochondrial complex 1 deficiency, nuclear iia 7 skos:exactMatch MONDO:0032612 semapv:UnspecifiedMatching +OMIM:618230 mitochondrial complex 1 deficiency, nuclear iia 8 skos:exactMatch MONDO:0032613 semapv:UnspecifiedMatching +OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch MONDO:0032614 semapv:UnspecifiedMatching +OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching +OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch UMLS:C4722258 semapv:UnspecifiedMatching +OMIM:618232 mitochondrial complex 1 deficiency, nuclear iia 9 skos:exactMatch MONDO:0032615 semapv:UnspecifiedMatching +OMIM:618233 mitochondrial complex 1 deficiency, nuclear iia 10 skos:exactMatch MONDO:0032616 semapv:UnspecifiedMatching +OMIM:618234 mitochondrial complex 1 deficiency, nuclear iia 11 skos:exactMatch MONDO:0032617 semapv:UnspecifiedMatching +OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch MONDO:0032618 semapv:UnspecifiedMatching +OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching +OMIM:618236 mitochondrial complex 1 deficiency, nuclear iia 14 skos:exactMatch MONDO:0032619 semapv:UnspecifiedMatching +OMIM:618237 mitochondrial complex 1 deficiency, nuclear iia 15 skos:exactMatch MONDO:0032620 semapv:UnspecifiedMatching +OMIM:618238 mitochondrial complex 1 deficiency, nuclear iia 16 skos:exactMatch MONDO:0032621 semapv:UnspecifiedMatching +OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch MONDO:0032622 semapv:UnspecifiedMatching +OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching +OMIM:618240 mitochondrial complex 1 deficiency, nuclear iia 18 skos:exactMatch MONDO:0032623 semapv:UnspecifiedMatching +OMIM:618241 mitochondrial complex 1 deficiency, nuclear iia 19 skos:exactMatch MONDO:0032624 semapv:UnspecifiedMatching +OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch MONDO:0032625 semapv:UnspecifiedMatching +OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching +OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching +OMIM:618243 mitochondrial complex 1 deficiency, nuclear iia 22 skos:exactMatch MONDO:0032626 semapv:UnspecifiedMatching +OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch MONDO:0032627 semapv:UnspecifiedMatching +OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch UMLS:C4748799 semapv:UnspecifiedMatching +OMIM:618245 mitochondrial complex 1 deficiency, nuclear iia 24 skos:exactMatch MONDO:0032628 semapv:UnspecifiedMatching +OMIM:618246 mitochondrial complex 1 deficiency, nuclear iia 25 skos:exactMatch MONDO:0032629 semapv:UnspecifiedMatching +OMIM:618247 mitochondrial complex 1 deficiency, nuclear iia 26 skos:exactMatch MONDO:0032630 semapv:UnspecifiedMatching +OMIM:618248 mitochondrial complex 1 deficiency, nuclear iia 27 skos:exactMatch MONDO:0032631 semapv:UnspecifiedMatching +OMIM:618249 mitochondrial complex 1 deficiency, nuclear iia 28 skos:exactMatch MONDO:0032632 semapv:UnspecifiedMatching +OMIM:618250 mitochondrial complex 1 deficiency, nuclear iia 29 skos:exactMatch MONDO:0032633 semapv:UnspecifiedMatching +OMIM:618251 mitochondrial complex 1 deficiency, nuclear iia 31 skos:exactMatch MONDO:0032634 semapv:UnspecifiedMatching +OMIM:618252 mitochondrial complex 1 deficiency, nuclear iia 32 skos:exactMatch MONDO:0032635 semapv:UnspecifiedMatching +OMIM:618253 mitochondrial complex 1 deficiency, nuclear iia 33 skos:exactMatch MONDO:0032636 semapv:UnspecifiedMatching +OMIM:618254 ciliary dyskinesia, primary, 39 skos:exactMatch MONDO:0032637 semapv:UnspecifiedMatching +OMIM:618255 MYORG skos:exactMatch hgnc.symbol:19918 semapv:UnspecifiedMatching +OMIM:618255 MYORG skos:exactMatch hgnc.symbol:MYORG semapv:UnspecifiedMatching +OMIM:618255 MYORG skos:exactMatch ncbigene:57462 semapv:UnspecifiedMatching +OMIM:618257 deafness, autosomal recessive 112 skos:exactMatch MONDO:0032639 semapv:UnspecifiedMatching +OMIM:618258 SEC11A skos:exactMatch hgnc.symbol:17718 semapv:UnspecifiedMatching +OMIM:618258 SEC11A skos:exactMatch hgnc.symbol:SEC11A semapv:UnspecifiedMatching +OMIM:618258 SEC11A skos:exactMatch ncbigene:23478 semapv:UnspecifiedMatching +OMIM:618259 LINC01565 skos:exactMatch hgnc.symbol:17099 semapv:UnspecifiedMatching +OMIM:618259 LINC01565 skos:exactMatch hgnc.symbol:LINC01565 semapv:UnspecifiedMatching +OMIM:618259 LINC01565 skos:exactMatch ncbigene:23434 semapv:UnspecifiedMatching +OMIM:618260 CCDC47 skos:exactMatch hgnc.symbol:24856 semapv:UnspecifiedMatching +OMIM:618260 CCDC47 skos:exactMatch hgnc.symbol:CCDC47 semapv:UnspecifiedMatching +OMIM:618260 CCDC47 skos:exactMatch ncbigene:57003 semapv:UnspecifiedMatching +OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch MONDO:0034054 semapv:UnspecifiedMatching +OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch Orphanet:538958 semapv:UnspecifiedMatching +OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch UMLS:C4748863 semapv:UnspecifiedMatching +OMIM:618262 CREB5 skos:exactMatch hgnc.symbol:16844 semapv:UnspecifiedMatching +OMIM:618262 CREB5 skos:exactMatch hgnc.symbol:CREB5 semapv:UnspecifiedMatching +OMIM:618262 CREB5 skos:exactMatch ncbigene:9586 semapv:UnspecifiedMatching +OMIM:618263 CALHM3 skos:exactMatch hgnc.symbol:23458 semapv:UnspecifiedMatching +OMIM:618263 CALHM3 skos:exactMatch hgnc.symbol:CALHM3 semapv:UnspecifiedMatching +OMIM:618263 CALHM3 skos:exactMatch ncbigene:119395 semapv:UnspecifiedMatching +OMIM:618264 mirror movements 4 skos:exactMatch MONDO:0032641 semapv:UnspecifiedMatching +OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:exactMatch MONDO:0032642 semapv:UnspecifiedMatching +OMIM:618266 pontocerebellar hypoplasia, iia 12 skos:exactMatch MONDO:0032643 semapv:UnspecifiedMatching +OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch MONDO:0032644 semapv:UnspecifiedMatching +OMIM:618268 trichohepatoneurodevelopmental syndrome skos:exactMatch MONDO:0032645 semapv:UnspecifiedMatching +OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:15992 semapv:UnspecifiedMatching +OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:ZNF341 semapv:UnspecifiedMatching +OMIM:618269 ZNF341 skos:exactMatch ncbigene:84905 semapv:UnspecifiedMatching +OMIM:618270 congenital anomalies of kidney and urinary tract 3 skos:exactMatch MONDO:0032646 semapv:UnspecifiedMatching +OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:17702 semapv:UnspecifiedMatching +OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:SEC61A2 semapv:UnspecifiedMatching +OMIM:618271 SEC61A2 skos:exactMatch ncbigene:55176 semapv:UnspecifiedMatching +OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor skos:exactMatch MONDO:0018445 semapv:UnspecifiedMatching +OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch MONDO:0032648 semapv:UnspecifiedMatching +OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:28954 semapv:UnspecifiedMatching +OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:PPWD1 semapv:UnspecifiedMatching +OMIM:618274 PPWD1 skos:exactMatch ncbigene:23398 semapv:UnspecifiedMatching +OMIM:618275 hypotrichosis 14 skos:exactMatch MONDO:0032649 semapv:UnspecifiedMatching +OMIM:618275 hypotrichosis 14 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching +OMIM:618275 hypotrichosis 14 skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching +OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy skos:exactMatch MONDO:0032650 semapv:UnspecifiedMatching +OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:24731 semapv:UnspecifiedMatching +OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:NHLRC2 semapv:UnspecifiedMatching +OMIM:618277 NHLRC2 skos:exactMatch ncbigene:374354 semapv:UnspecifiedMatching +OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis skos:exactMatch MONDO:0032651 semapv:UnspecifiedMatching +OMIM:618279 charcot-marie-tooth disease, demyelinating, iia 1g skos:exactMatch MONDO:0033135 semapv:UnspecifiedMatching +OMIM:618280 cardiac-urogenital syndrome skos:exactMatch MONDO:0032653 semapv:UnspecifiedMatching +OMIM:618281 VWA2 skos:exactMatch hgnc.symbol:24709 semapv:UnspecifiedMatching +OMIM:618281 VWA2 skos:exactMatch hgnc.symbol:VWA2 semapv:UnspecifiedMatching +OMIM:618281 VWA2 skos:exactMatch ncbigene:340706 semapv:UnspecifiedMatching +OMIM:618282 hyper-ige syndrome 3, autosomal recessive, with recurrent infections skos:exactMatch MONDO:0032654 semapv:UnspecifiedMatching +OMIM:618283 visual impairment and progressive phthisis bulbi skos:exactMatch MONDO:0032655 semapv:UnspecifiedMatching +OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:exactMatch MONDO:0032656 semapv:UnspecifiedMatching +OMIM:618285 developmental and epileptic encephalopathy 69 skos:exactMatch MONDO:0032657 semapv:UnspecifiedMatching +OMIM:618285 developmental and epileptic encephalopathy 69 skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching +OMIM:618286 macrocephaly, acquired, with impaired intellectual development skos:exactMatch MONDO:0032658 semapv:UnspecifiedMatching +OMIM:618287 autoinflammatory disease, familial, behcet-like 3 skos:exactMatch MONDO:0032659 semapv:UnspecifiedMatching +OMIM:618288 HMCES skos:exactMatch hgnc.symbol:24446 semapv:UnspecifiedMatching +OMIM:618288 HMCES skos:exactMatch hgnc.symbol:HMCES semapv:UnspecifiedMatching +OMIM:618288 HMCES skos:exactMatch ncbigene:56941 semapv:UnspecifiedMatching +OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:10667 semapv:UnspecifiedMatching +OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:ENTR1 semapv:UnspecifiedMatching +OMIM:618289 ENTR1 skos:exactMatch ncbigene:10807 semapv:UnspecifiedMatching +OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:26960 semapv:UnspecifiedMatching +OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:WDR90 semapv:UnspecifiedMatching +OMIM:618290 WDR90 skos:exactMatch ncbigene:197335 semapv:UnspecifiedMatching +OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch MONDO:0032660 semapv:UnspecifiedMatching +OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch UMLS:C4749003 semapv:UnspecifiedMatching +OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch MONDO:0032661 semapv:UnspecifiedMatching +OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching +OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:40022 semapv:UnspecifiedMatching +OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:IFITM10 semapv:UnspecifiedMatching +OMIM:618293 IFITM10 skos:exactMatch ncbigene:402778 semapv:UnspecifiedMatching +OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:32393 semapv:UnspecifiedMatching +OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:TMEM91 semapv:UnspecifiedMatching +OMIM:618294 TMEM91 skos:exactMatch ncbigene:641649 semapv:UnspecifiedMatching +OMIM:618295 intellectual developmental disorder, autosomal recessive 67 skos:exactMatch MONDO:0032662 semapv:UnspecifiedMatching +OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:37219 semapv:UnspecifiedMatching +OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:TMEM233 semapv:UnspecifiedMatching +OMIM:618296 TMEM233 skos:exactMatch ncbigene:387890 semapv:UnspecifiedMatching +OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:13943 semapv:UnspecifiedMatching +OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:PRRT1 semapv:UnspecifiedMatching +OMIM:618297 PRRT1 skos:exactMatch ncbigene:80863 semapv:UnspecifiedMatching +OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch MONDO:0032663 semapv:UnspecifiedMatching +OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching +OMIM:618299 LRP12 skos:exactMatch hgnc.symbol:31708 semapv:UnspecifiedMatching +OMIM:618299 LRP12 skos:exactMatch hgnc.symbol:LRP12 semapv:UnspecifiedMatching +OMIM:618299 LRP12 skos:exactMatch ncbigene:29967 semapv:UnspecifiedMatching +OMIM:618300 ciliary dyskinesia, primary, 40 skos:exactMatch MONDO:0032664 semapv:UnspecifiedMatching +OMIM:618301 KAZN skos:exactMatch hgnc.symbol:29173 semapv:UnspecifiedMatching +OMIM:618301 KAZN skos:exactMatch hgnc.symbol:KAZN semapv:UnspecifiedMatching +OMIM:618301 KAZN skos:exactMatch ncbigene:23254 semapv:UnspecifiedMatching +OMIM:618302 intellectual developmental disorder, autosomal recessive 68 skos:exactMatch MONDO:0032665 semapv:UnspecifiedMatching +OMIM:618303 CAVIN3 skos:exactMatch hgnc.symbol:9400 semapv:UnspecifiedMatching +OMIM:618303 CAVIN3 skos:exactMatch hgnc.symbol:CAVIN3 semapv:UnspecifiedMatching +OMIM:618303 CAVIN3 skos:exactMatch ncbigene:112464 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch UMLS:C1826749 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch hgnc.symbol:25326 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch hgnc.symbol:QRICH2 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch ncbigene:84074 semapv:UnspecifiedMatching +OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc.symbol:28262 semapv:UnspecifiedMatching +OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc.symbol:ATP1A1-AS1 semapv:UnspecifiedMatching +OMIM:618305 ATP1A1AS1 skos:exactMatch ncbigene:84852 semapv:UnspecifiedMatching +OMIM:618306 PRR7 skos:exactMatch hgnc.symbol:28130 semapv:UnspecifiedMatching +OMIM:618306 PRR7 skos:exactMatch hgnc.symbol:PRR7 semapv:UnspecifiedMatching +OMIM:618306 PRR7 skos:exactMatch ncbigene:80758 semapv:UnspecifiedMatching +OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch MONDO:0032666 semapv:UnspecifiedMatching +OMIM:618308 NOP9 skos:exactMatch hgnc.symbol:19826 semapv:UnspecifiedMatching +OMIM:618308 NOP9 skos:exactMatch hgnc.symbol:NOP9 semapv:UnspecifiedMatching +OMIM:618308 NOP9 skos:exactMatch ncbigene:161424 semapv:UnspecifiedMatching +OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch MONDO:0032667 semapv:UnspecifiedMatching +OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch MONDO:0032668 semapv:UnspecifiedMatching +OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch UMLS:C5193020 semapv:UnspecifiedMatching +OMIM:618311 RRS1 skos:exactMatch hgnc.symbol:17083 semapv:UnspecifiedMatching +OMIM:618311 RRS1 skos:exactMatch hgnc.symbol:RRS1 semapv:UnspecifiedMatching +OMIM:618311 RRS1 skos:exactMatch ncbigene:23212 semapv:UnspecifiedMatching +OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch MONDO:0032669 semapv:UnspecifiedMatching +OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch UMLS:C5193021 semapv:UnspecifiedMatching +OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch MONDO:0032670 semapv:UnspecifiedMatching +OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch UMLS:C5193022 semapv:UnspecifiedMatching +OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 skos:exactMatch MONDO:0020788 semapv:UnspecifiedMatching +OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:10344 semapv:UnspecifiedMatching +OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:RPL35 semapv:UnspecifiedMatching +OMIM:618315 RPL35 skos:exactMatch ncbigene:11224 semapv:UnspecifiedMatching +OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:exactMatch MONDO:0032672 semapv:UnspecifiedMatching +OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:exactMatch MONDO:0032673 semapv:UnspecifiedMatching +OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:28078 semapv:UnspecifiedMatching +OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:CFAP119 semapv:UnspecifiedMatching +OMIM:618318 CFAP119 skos:exactMatch ncbigene:90835 semapv:UnspecifiedMatching +OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:13995 semapv:UnspecifiedMatching +OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:PRDM10 semapv:UnspecifiedMatching +OMIM:618319 PRDM10 skos:exactMatch ncbigene:56980 semapv:UnspecifiedMatching +OMIM:618320 PLA2G2E skos:exactMatch UMLS:C1421980 semapv:UnspecifiedMatching +OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:13414 semapv:UnspecifiedMatching +OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:PLA2G2E semapv:UnspecifiedMatching +OMIM:618320 PLA2G2E skos:exactMatch ncbigene:30814 semapv:UnspecifiedMatching +OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch MONDO:0034121 semapv:UnspecifiedMatching +OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch Orphanet:555402 semapv:UnspecifiedMatching +OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching +OMIM:618322 USP38 skos:exactMatch hgnc.symbol:20067 semapv:UnspecifiedMatching +OMIM:618322 USP38 skos:exactMatch hgnc.symbol:USP38 semapv:UnspecifiedMatching +OMIM:618322 USP38 skos:exactMatch ncbigene:84640 semapv:UnspecifiedMatching +OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch MONDO:0032675 semapv:UnspecifiedMatching +OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 skos:exactMatch MONDO:0020777 semapv:UnspecifiedMatching +OMIM:618325 lissencephaly 9 with complex brainstem malformation skos:exactMatch MONDO:0032677 semapv:UnspecifiedMatching +OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:16230 semapv:UnspecifiedMatching +OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:ZCCHC3 semapv:UnspecifiedMatching +OMIM:618326 ZCCHC3 skos:exactMatch ncbigene:85364 semapv:UnspecifiedMatching +OMIM:618327 CRACD skos:exactMatch hgnc.symbol:29219 semapv:UnspecifiedMatching +OMIM:618327 CRACD skos:exactMatch hgnc.symbol:CRACD semapv:UnspecifiedMatching +OMIM:618327 CRACD skos:exactMatch ncbigene:57482 semapv:UnspecifiedMatching +OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch MONDO:0032678 semapv:UnspecifiedMatching +OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch Orphanet:557064 semapv:UnspecifiedMatching +OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching +OMIM:618329 combined oxidative phosphorylation deficiency 37 skos:exactMatch MONDO:0032679 semapv:UnspecifiedMatching +OMIM:618330 global developmental delay with or without impaired intellectual development skos:exactMatch MONDO:0032680 semapv:UnspecifiedMatching +OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:exactMatch MONDO:0032681 semapv:UnspecifiedMatching +OMIM:618332 menke-hennekam syndrome 1 skos:exactMatch MONDO:0020763 semapv:UnspecifiedMatching +OMIM:618332 menke-hennekam syndrome 1 skos:exactMatch UMLS:C5193034 semapv:UnspecifiedMatching +OMIM:618333 menke-hennekam syndrome 2 skos:exactMatch MONDO:0020769 semapv:UnspecifiedMatching +OMIM:618333 menke-hennekam syndrome 2 skos:exactMatch UMLS:C5193035 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch UMLS:C1824454 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:28672 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:CYBC1 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch ncbigene:79415 semapv:UnspecifiedMatching +OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:48671 semapv:UnspecifiedMatching +OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:LINC00958 semapv:UnspecifiedMatching +OMIM:618335 LINC00958 skos:exactMatch ncbigene:100506305 semapv:UnspecifiedMatching +OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:exactMatch MONDO:0032684 semapv:UnspecifiedMatching +OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:25462 semapv:UnspecifiedMatching +OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:FRMD8 semapv:UnspecifiedMatching +OMIM:618337 FRMD8 skos:exactMatch ncbigene:83786 semapv:UnspecifiedMatching +OMIM:618338 TMT1A skos:exactMatch hgnc.symbol:TMT1A semapv:UnspecifiedMatching +OMIM:618338 TMT1A skos:exactMatch ncbigene:25840 semapv:UnspecifiedMatching +OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch MONDO:0032685 semapv:UnspecifiedMatching +OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching +OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:19216 semapv:UnspecifiedMatching +OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:SMR3A semapv:UnspecifiedMatching +OMIM:618340 SMR3A skos:exactMatch ncbigene:26952 semapv:UnspecifiedMatching +OMIM:618341 spermatogenic failure 35 skos:exactMatch MONDO:0032686 semapv:UnspecifiedMatching +OMIM:618341 spermatogenic failure 35 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching +OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch MONDO:0032687 semapv:UnspecifiedMatching +OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:exactMatch MONDO:0032688 semapv:UnspecifiedMatching +OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:22310 semapv:UnspecifiedMatching +OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:PRR15 semapv:UnspecifiedMatching +OMIM:618344 PRR15 skos:exactMatch ncbigene:222171 semapv:UnspecifiedMatching +OMIM:618345 retinitis pigmentosa 85 skos:exactMatch MONDO:0032689 semapv:UnspecifiedMatching +OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch MONDO:0032690 semapv:UnspecifiedMatching +OMIM:618347 galloway-mowat syndrome 6 skos:exactMatch MONDO:0032691 semapv:UnspecifiedMatching +OMIM:618348 galloway-mowat syndrome 7 skos:exactMatch MONDO:0032692 semapv:UnspecifiedMatching +OMIM:618349 galloway-mowat syndrome 8 skos:exactMatch MONDO:0032693 semapv:UnspecifiedMatching +OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:25604 semapv:UnspecifiedMatching +OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:TRAPPC14 semapv:UnspecifiedMatching +OMIM:618350 MAP11 skos:exactMatch ncbigene:55262 semapv:UnspecifiedMatching +OMIM:618351 microcephaly 25, primary, autosomal recessive skos:exactMatch MONDO:0032694 semapv:UnspecifiedMatching +OMIM:618352 central centrifugal cicatricial alopecia skos:exactMatch MONDO:0022113 semapv:UnspecifiedMatching +OMIM:618353 oocyte/zygote/embryo maturation arrest 6 skos:exactMatch MONDO:0032696 semapv:UnspecifiedMatching +OMIM:618354 houge-janssens syndrome 3 skos:exactMatch MONDO:0032697 semapv:UnspecifiedMatching +OMIM:618355 ALG10 skos:exactMatch UMLS:C4760639 semapv:UnspecifiedMatching +OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:23162 semapv:UnspecifiedMatching +OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:ALG10 semapv:UnspecifiedMatching +OMIM:618355 ALG10 skos:exactMatch ncbigene:84920 semapv:UnspecifiedMatching +OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch MONDO:0032698 semapv:UnspecifiedMatching +OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching +OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 skos:exactMatch MONDO:0032699 semapv:UnspecifiedMatching +OMIM:618358 cone-rod dystrophy and hearing loss 2 skos:exactMatch MONDO:0020780 semapv:UnspecifiedMatching +OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:12988 semapv:UnspecifiedMatching +OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:ZNF197 semapv:UnspecifiedMatching +OMIM:618359 ZNF197 skos:exactMatch ncbigene:10168 semapv:UnspecifiedMatching +OMIM:618360 brain small vessel disease 3 skos:exactMatch MONDO:0100105 semapv:UnspecifiedMatching +OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:21480 semapv:UnspecifiedMatching +OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:DUSP23 semapv:UnspecifiedMatching +OMIM:618361 DUSP23 skos:exactMatch ncbigene:54935 semapv:UnspecifiedMatching +OMIM:618362 coffin-siris syndrome 8 skos:exactMatch MONDO:0032702 semapv:UnspecifiedMatching +OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:exactMatch MONDO:0032703 semapv:UnspecifiedMatching +OMIM:618364 myoclonus, familial, 2 skos:exactMatch MONDO:0100092 semapv:UnspecifiedMatching +OMIM:618364 myoclonus, familial, 2 skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching +OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:12997 semapv:UnspecifiedMatching +OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:ZSCAN10 semapv:UnspecifiedMatching +OMIM:618365 ZSCAN10 skos:exactMatch ncbigene:84891 semapv:UnspecifiedMatching +OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:29122 semapv:UnspecifiedMatching +OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:VPS8 semapv:UnspecifiedMatching +OMIM:618366 VPS8 skos:exactMatch ncbigene:23355 semapv:UnspecifiedMatching +OMIM:618367 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch MONDO:0032705 semapv:UnspecifiedMatching +OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:28161 semapv:UnspecifiedMatching +OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:DUSP26 semapv:UnspecifiedMatching +OMIM:618368 DUSP26 skos:exactMatch ncbigene:78986 semapv:UnspecifiedMatching +OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 skos:exactMatch MONDO:0032706 semapv:UnspecifiedMatching +OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:31983 semapv:UnspecifiedMatching +OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:NEXN-AS1 semapv:UnspecifiedMatching +OMIM:618370 NEXNAS1 skos:exactMatch ncbigene:374987 semapv:UnspecifiedMatching +OMIM:618371 turnpenny-fry syndrome skos:exactMatch MONDO:0032707 semapv:UnspecifiedMatching +OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets skos:exactMatch MONDO:0018794 semapv:UnspecifiedMatching +OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma skos:exactMatch MONDO:0018657 semapv:UnspecifiedMatching +OMIM:618374 developmental and epileptic encephalopathy 72 skos:exactMatch MONDO:0032710 semapv:UnspecifiedMatching +OMIM:618374 developmental and epileptic encephalopathy 72 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching +OMIM:618375 FAAHP1 skos:exactMatch hgnc.symbol:50679 semapv:UnspecifiedMatching +OMIM:618375 FAAHP1 skos:exactMatch hgnc.symbol:FAAHP1 semapv:UnspecifiedMatching +OMIM:618375 FAAHP1 skos:exactMatch ncbigene:729041 semapv:UnspecifiedMatching +OMIM:618376 PRSS23 skos:exactMatch hgnc.symbol:14370 semapv:UnspecifiedMatching +OMIM:618376 PRSS23 skos:exactMatch hgnc.symbol:PRSS23 semapv:UnspecifiedMatching +OMIM:618376 PRSS23 skos:exactMatch ncbigene:11098 semapv:UnspecifiedMatching +OMIM:618378 combined oxidative phosphorylation deficiency 38 skos:exactMatch MONDO:0032712 semapv:UnspecifiedMatching +OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch MONDO:0034106 semapv:UnspecifiedMatching +OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch Orphanet:544503 semapv:UnspecifiedMatching +OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching +OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:16122 semapv:UnspecifiedMatching +OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:FAM83D semapv:UnspecifiedMatching +OMIM:618380 FAM83D skos:exactMatch ncbigene:81610 semapv:UnspecifiedMatching +OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:exactMatch MONDO:0032714 semapv:UnspecifiedMatching +OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:26235 semapv:UnspecifiedMatching +OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:CIAO2A semapv:UnspecifiedMatching +OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching +OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch MONDO:0032715 semapv:UnspecifiedMatching +OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching +OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch MONDO:0032716 semapv:UnspecifiedMatching +OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:20039 semapv:UnspecifiedMatching +OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:CAP2 semapv:UnspecifiedMatching +OMIM:618385 CAP2 skos:exactMatch ncbigene:10486 semapv:UnspecifiedMatching +OMIM:618386 amelogenesis imperfecta, iia 3c skos:exactMatch MONDO:0032717 semapv:UnspecifiedMatching +OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch MONDO:0020770 semapv:UnspecifiedMatching +OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch MONDO:0100102 semapv:UnspecifiedMatching +OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching +OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch UMLS:C4760576 semapv:UnspecifiedMatching +OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch MONDO:0100103 semapv:UnspecifiedMatching +OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching +OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching +OMIM:618390 BRINP3 skos:exactMatch hgnc.symbol:22393 semapv:UnspecifiedMatching +OMIM:618390 BRINP3 skos:exactMatch hgnc.symbol:BRINP3 semapv:UnspecifiedMatching +OMIM:618390 BRINP3 skos:exactMatch ncbigene:339479 semapv:UnspecifiedMatching +OMIM:618391 DPH6 skos:exactMatch hgnc.symbol:30543 semapv:UnspecifiedMatching +OMIM:618391 DPH6 skos:exactMatch hgnc.symbol:DPH6 semapv:UnspecifiedMatching +OMIM:618391 DPH6 skos:exactMatch ncbigene:89978 semapv:UnspecifiedMatching +OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu iia skos:exactMatch MONDO:0032721 semapv:UnspecifiedMatching +OMIM:618393 fetal akinesia deformation sequence 4 skos:exactMatch MONDO:0100104 semapv:UnspecifiedMatching +OMIM:618394 immunodeficiency 60 and autoimmunity skos:exactMatch MONDO:0032723 semapv:UnspecifiedMatching +OMIM:618395 spondyloepimetaphyseal dysplasia with joint laxity, iia 3 skos:exactMatch MONDO:0032724 semapv:UnspecifiedMatching +OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch MONDO:0032725 semapv:UnspecifiedMatching +OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching +OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch MONDO:0032726 semapv:UnspecifiedMatching +OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch Orphanet:565624 semapv:UnspecifiedMatching +OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch UMLS:C5193075 semapv:UnspecifiedMatching +OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like skos:exactMatch MONDO:0019475 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch UMLS:C1539576 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:24870 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:GLT8D1 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch ncbigene:55830 semapv:UnspecifiedMatching +OMIM:618400 charcot-marie-tooth disease, axonal, iia 2ee skos:exactMatch MONDO:0032728 semapv:UnspecifiedMatching +OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:27963 semapv:UnspecifiedMatching +OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:FAM170A semapv:UnspecifiedMatching +OMIM:618401 FAM170A skos:exactMatch ncbigene:340069 semapv:UnspecifiedMatching +OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch MONDO:0032729 semapv:UnspecifiedMatching +OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch UMLS:C5193077 semapv:UnspecifiedMatching +OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:26224 semapv:UnspecifiedMatching +OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:FAM124B semapv:UnspecifiedMatching +OMIM:618403 FAM124B skos:exactMatch ncbigene:79843 semapv:UnspecifiedMatching +OMIM:618404 leukodystrophy, hypomyelinating, 18 skos:exactMatch MONDO:0032730 semapv:UnspecifiedMatching +OMIM:618404 leukodystrophy, hypomyelinating, 18 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching +OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:29448 semapv:UnspecifiedMatching +OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:ZNF717 semapv:UnspecifiedMatching +OMIM:618405 ZNF717 skos:exactMatch ncbigene:100131827 semapv:UnspecifiedMatching +OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch Orphanet:71529 semapv:UnspecifiedMatching +OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4054546 semapv:UnspecifiedMatching +OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4759928 semapv:UnspecifiedMatching +OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:25648 semapv:UnspecifiedMatching +OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:MINDY1 semapv:UnspecifiedMatching +OMIM:618407 MINDY1 skos:exactMatch ncbigene:55793 semapv:UnspecifiedMatching +OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:26954 semapv:UnspecifiedMatching +OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:MINDY2 semapv:UnspecifiedMatching +OMIM:618408 MINDY2 skos:exactMatch ncbigene:54629 semapv:UnspecifiedMatching +OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:16372 semapv:UnspecifiedMatching +OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:FAM8A1 semapv:UnspecifiedMatching +OMIM:618409 FAM8A1 skos:exactMatch ncbigene:51439 semapv:UnspecifiedMatching +OMIM:618410 deafness, autosomal recessive 113 skos:exactMatch MONDO:0032732 semapv:UnspecifiedMatching +OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:17136 semapv:UnspecifiedMatching +OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:FTSJ3 semapv:UnspecifiedMatching +OMIM:618411 FTSJ3 skos:exactMatch ncbigene:117246 semapv:UnspecifiedMatching +OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine skos:exactMatch MONDO:0032733 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch UMLS:C2239438 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:29162 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:FAM149B1 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch ncbigene:317662 semapv:UnspecifiedMatching +OMIM:618414 congenital myopathy 14 skos:exactMatch MONDO:0034109 semapv:UnspecifiedMatching +OMIM:618415 cataract 48 skos:exactMatch MONDO:0032735 semapv:UnspecifiedMatching +OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:exactMatch MONDO:0032736 semapv:UnspecifiedMatching +OMIM:618417 MEI4 skos:exactMatch UMLS:C3544029 semapv:UnspecifiedMatching +OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:43638 semapv:UnspecifiedMatching +OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:MEI4 semapv:UnspecifiedMatching +OMIM:618417 MEI4 skos:exactMatch ncbigene:101928601 semapv:UnspecifiedMatching +OMIM:618418 spastic paraplegia 80, autosomal dominant skos:exactMatch MONDO:0032737 semapv:UnspecifiedMatching +OMIM:618419 myoectodermal gonadal dysgenesis syndrome skos:exactMatch MONDO:0032738 semapv:UnspecifiedMatching +OMIM:618420 spermatogenic failure 36 skos:exactMatch MONDO:0032739 semapv:UnspecifiedMatching +OMIM:618421 REC114 skos:exactMatch hgnc.symbol:25065 semapv:UnspecifiedMatching +OMIM:618421 REC114 skos:exactMatch hgnc.symbol:REC114 semapv:UnspecifiedMatching +OMIM:618421 REC114 skos:exactMatch ncbigene:283677 semapv:UnspecifiedMatching +OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch MONDO:0032740 semapv:UnspecifiedMatching +OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching +OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch UMLS:C5193087 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch UMLS:C1538289 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:26853 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:ANKRD31 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch ncbigene:256006 semapv:UnspecifiedMatching +OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:23045 semapv:UnspecifiedMatching +OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:ARMC2 semapv:UnspecifiedMatching +OMIM:618424 ARMC2 skos:exactMatch ncbigene:84071 semapv:UnspecifiedMatching +OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:exactMatch MONDO:0032741 semapv:UnspecifiedMatching +OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:exactMatch MONDO:0032742 semapv:UnspecifiedMatching +OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:25593 semapv:UnspecifiedMatching +OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:PACC1 semapv:UnspecifiedMatching +OMIM:618427 PACC1 skos:exactMatch ncbigene:55248 semapv:UnspecifiedMatching +OMIM:618429 spermatogenic failure 37 skos:exactMatch MONDO:0032744 semapv:UnspecifiedMatching +OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch MONDO:0032745 semapv:UnspecifiedMatching +OMIM:618431 hydatidiform mole, recurrent, 3 skos:exactMatch MONDO:0032746 semapv:UnspecifiedMatching +OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch MONDO:0032747 semapv:UnspecifiedMatching +OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch Orphanet:254688 semapv:UnspecifiedMatching +OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch UMLS:C5193094 semapv:UnspecifiedMatching +OMIM:618433 spermatogenic failure 38 skos:exactMatch MONDO:0032748 semapv:UnspecifiedMatching +OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch MONDO:0032749 semapv:UnspecifiedMatching +OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching +OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch UMLS:C5193096 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch MONDO:0032750 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1147 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch UMLS:C5193097 semapv:UnspecifiedMatching +OMIM:618436 arthrogryposis, distal, iia 2b3 skos:exactMatch MONDO:0032751 semapv:UnspecifiedMatching +OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch MONDO:0032752 semapv:UnspecifiedMatching +OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching +OMIM:618438 spastic ataxia 9, autosomal recessive skos:exactMatch MONDO:0032753 semapv:UnspecifiedMatching +OMIM:618439 USP45 skos:exactMatch hgnc.symbol:20080 semapv:UnspecifiedMatching +OMIM:618439 USP45 skos:exactMatch hgnc.symbol:USP45 semapv:UnspecifiedMatching +OMIM:618439 USP45 skos:exactMatch ncbigene:85015 semapv:UnspecifiedMatching +OMIM:618440 oculoskeletodental syndrome skos:exactMatch MONDO:0034145 semapv:UnspecifiedMatching +OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:13728 semapv:UnspecifiedMatching +OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:ADGRG3 semapv:UnspecifiedMatching +OMIM:618441 ADGRG3 skos:exactMatch ncbigene:222487 semapv:UnspecifiedMatching +OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:22394 semapv:UnspecifiedMatching +OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:KCTD8 semapv:UnspecifiedMatching +OMIM:618442 KCTD8 skos:exactMatch ncbigene:386617 semapv:UnspecifiedMatching +OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities skos:exactMatch MONDO:0032755 semapv:UnspecifiedMatching +OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:23633 semapv:UnspecifiedMatching +OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:PLGRKT semapv:UnspecifiedMatching +OMIM:618444 PLGRKT skos:exactMatch ncbigene:55848 semapv:UnspecifiedMatching +OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:33885 semapv:UnspecifiedMatching +OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:GHRLOS semapv:UnspecifiedMatching +OMIM:618445 GHRLOS skos:exactMatch ncbigene:100126793 semapv:UnspecifiedMatching +OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:4450 semapv:UnspecifiedMatching +OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:GPC2 semapv:UnspecifiedMatching +OMIM:618446 GPC2 skos:exactMatch ncbigene:221914 semapv:UnspecifiedMatching +OMIM:618447 long qt syndrome 8 skos:exactMatch MONDO:0032756 semapv:UnspecifiedMatching +OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:19995 semapv:UnspecifiedMatching +OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:GPR139 semapv:UnspecifiedMatching +OMIM:618448 GPR139 skos:exactMatch ncbigene:124274 semapv:UnspecifiedMatching +OMIM:618449 ciliary dyskinesia, primary, 41 skos:exactMatch MONDO:0032757 semapv:UnspecifiedMatching +OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:19364 semapv:UnspecifiedMatching +OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:RTKN2 semapv:UnspecifiedMatching +OMIM:618450 RTKN2 skos:exactMatch ncbigene:219790 semapv:UnspecifiedMatching +OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:exactMatch MONDO:0032758 semapv:UnspecifiedMatching +OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:19236 semapv:UnspecifiedMatching +OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:PLEKHB2 semapv:UnspecifiedMatching +OMIM:618452 PLEKHB2 skos:exactMatch ncbigene:55041 semapv:UnspecifiedMatching +OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies skos:exactMatch MONDO:0032759 semapv:UnspecifiedMatching +OMIM:618454 developmental delay with or without dysmorphic facies and autism skos:exactMatch MONDO:0032760 semapv:UnspecifiedMatching +OMIM:618454 developmental delay with or without dysmorphic facies and autism skos:exactMatch UMLS:C5193106 semapv:UnspecifiedMatching +OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:30477 semapv:UnspecifiedMatching +OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:HEPHL1 semapv:UnspecifiedMatching +OMIM:618455 HEPHL1 skos:exactMatch ncbigene:341208 semapv:UnspecifiedMatching +OMIM:618456 deafness, autosomal recessive 114 skos:exactMatch MONDO:0032761 semapv:UnspecifiedMatching +OMIM:618457 deafness, autosomal recessive 115 skos:exactMatch MONDO:0032762 semapv:UnspecifiedMatching +OMIM:618458 knobloch syndrome 2 skos:exactMatch MONDO:0100119 semapv:UnspecifiedMatching +OMIM:618459 immunodeficiency 62 skos:exactMatch MONDO:0032763 semapv:UnspecifiedMatching +OMIM:618460 khan-khan-katsanis syndrome skos:exactMatch MONDO:0032764 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C4320593 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:33551 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:NDUFAF8 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch ncbigene:284184 semapv:UnspecifiedMatching +OMIM:618462 bleeding disorder, platelet-type, 22 skos:exactMatch MONDO:0032765 semapv:UnspecifiedMatching +OMIM:618463 hypoalphalipoproteinemia, primary, 2 skos:exactMatch MONDO:0032766 semapv:UnspecifiedMatching +OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 skos:exactMatch MONDO:0032767 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch UMLS:C1428523 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:25818 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:BRD9 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch ncbigene:65980 semapv:UnspecifiedMatching +OMIM:618466 BRIX1 skos:exactMatch UMLS:C1538972 semapv:UnspecifiedMatching +OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:24170 semapv:UnspecifiedMatching +OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:BRIX1 semapv:UnspecifiedMatching +OMIM:618466 BRIX1 skos:exactMatch ncbigene:55299 semapv:UnspecifiedMatching +OMIM:618467 SLF1 skos:exactMatch hgnc.symbol:25408 semapv:UnspecifiedMatching +OMIM:618467 SLF1 skos:exactMatch hgnc.symbol:SLF1 semapv:UnspecifiedMatching +OMIM:618467 SLF1 skos:exactMatch ncbigene:84250 semapv:UnspecifiedMatching +OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch MONDO:0032768 semapv:UnspecifiedMatching +OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching +OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch MONDO:0020746 semapv:UnspecifiedMatching +OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch Orphanet:2990 semapv:UnspecifiedMatching +OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching +OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch MONDO:0032770 semapv:UnspecifiedMatching +OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching +OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:20870 semapv:UnspecifiedMatching +OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:RPF2 semapv:UnspecifiedMatching +OMIM:618471 RPF2 skos:exactMatch ncbigene:84154 semapv:UnspecifiedMatching +OMIM:618472 ASPG skos:exactMatch hgnc.symbol:20123 semapv:UnspecifiedMatching +OMIM:618472 ASPG skos:exactMatch hgnc.symbol:ASPG semapv:UnspecifiedMatching +OMIM:618472 ASPG skos:exactMatch ncbigene:374569 semapv:UnspecifiedMatching +OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:28147 semapv:UnspecifiedMatching +OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:EIF1AD semapv:UnspecifiedMatching +OMIM:618473 EIF1AD skos:exactMatch ncbigene:84285 semapv:UnspecifiedMatching +OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:30203 semapv:UnspecifiedMatching +OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:WDR83OS semapv:UnspecifiedMatching +OMIM:618474 WDR83OS skos:exactMatch ncbigene:51398 semapv:UnspecifiedMatching +OMIM:618475 pheochromocytoma/paraganglioma syndrome 7 skos:exactMatch MONDO:0032771 semapv:UnspecifiedMatching +OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:exactMatch MONDO:0032772 semapv:UnspecifiedMatching +OMIM:618477 uridine-cytidineuria skos:exactMatch MONDO:0032773 semapv:UnspecifiedMatching +OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:27295 semapv:UnspecifiedMatching +OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:FYB2 semapv:UnspecifiedMatching +OMIM:618478 FYB2 skos:exactMatch ncbigene:199920 semapv:UnspecifiedMatching +OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch MONDO:0032774 semapv:UnspecifiedMatching +OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch UMLS:C5193118 semapv:UnspecifiedMatching +OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch MONDO:0032775 semapv:UnspecifiedMatching +OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch UMLS:C5193119 semapv:UnspecifiedMatching +OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch MONDO:0032776 semapv:UnspecifiedMatching +OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching +OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching +OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch MONDO:0032777 semapv:UnspecifiedMatching +OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching +OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching +OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:6629 semapv:UnspecifiedMatching +OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:LLGL2 semapv:UnspecifiedMatching +OMIM:618483 LLGL2 skos:exactMatch ncbigene:3993 semapv:UnspecifiedMatching +OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch MONDO:0032778 semapv:UnspecifiedMatching +OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching +OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching +OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:41493 semapv:UnspecifiedMatching +OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:ZBTB40-IT1 semapv:UnspecifiedMatching +OMIM:618485 ZBTB40IT1 skos:exactMatch ncbigene:100874345 semapv:UnspecifiedMatching +OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:26215 semapv:UnspecifiedMatching +OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:PLBD1 semapv:UnspecifiedMatching +OMIM:618486 PLBD1 skos:exactMatch ncbigene:79887 semapv:UnspecifiedMatching +OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:23624 semapv:UnspecifiedMatching +OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:GPR151 semapv:UnspecifiedMatching +OMIM:618487 GPR151 skos:exactMatch ncbigene:134391 semapv:UnspecifiedMatching +OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:23792 semapv:UnspecifiedMatching +OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:PLD4 semapv:UnspecifiedMatching +OMIM:618488 PLD4 skos:exactMatch ncbigene:122618 semapv:UnspecifiedMatching +OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:14310 semapv:UnspecifiedMatching +OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:BRD7 semapv:UnspecifiedMatching +OMIM:618489 BRD7 skos:exactMatch ncbigene:29117 semapv:UnspecifiedMatching +OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:17830 semapv:UnspecifiedMatching +OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:GPR107 semapv:UnspecifiedMatching +OMIM:618490 GPR107 skos:exactMatch ncbigene:57720 semapv:UnspecifiedMatching +OMIM:618491 GPR108 skos:exactMatch UMLS:C1425110 semapv:UnspecifiedMatching +OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:17829 semapv:UnspecifiedMatching +OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:GPR108 semapv:UnspecifiedMatching +OMIM:618491 GPR108 skos:exactMatch ncbigene:56927 semapv:UnspecifiedMatching +OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:exactMatch MONDO:0032779 semapv:UnspecifiedMatching +OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:exactMatch MONDO:0032780 semapv:UnspecifiedMatching +OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:exactMatch MONDO:0032781 semapv:UnspecifiedMatching +OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0032782 semapv:UnspecifiedMatching +OMIM:618496 aortic valve disease 3 skos:exactMatch MONDO:0032783 semapv:UnspecifiedMatching +OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:exactMatch MONDO:0032784 semapv:UnspecifiedMatching +OMIM:618498 polydactyly, postaxial, iia a10 skos:exactMatch MONDO:0032785 semapv:UnspecifiedMatching +OMIM:618499 noonan syndrome 11 skos:exactMatch MONDO:0032786 semapv:UnspecifiedMatching +OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch MONDO:0032787 semapv:UnspecifiedMatching +OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch Orphanet:556955 semapv:UnspecifiedMatching +OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching +OMIM:618501 cerebellar atrophy with seizures and variable developmental delay skos:exactMatch MONDO:0032788 semapv:UnspecifiedMatching +OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:21111 semapv:UnspecifiedMatching +OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:BICRAL semapv:UnspecifiedMatching +OMIM:618502 BICRAL skos:exactMatch ncbigene:23506 semapv:UnspecifiedMatching +OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:28496 semapv:UnspecifiedMatching +OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:POGLUT3 semapv:UnspecifiedMatching +OMIM:618503 POGLUT3 skos:exactMatch ncbigene:143888 semapv:UnspecifiedMatching +OMIM:618504 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch MONDO:0032789 semapv:UnspecifiedMatching +OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch MONDO:0032790 semapv:UnspecifiedMatching +OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies skos:exactMatch MONDO:0032791 semapv:UnspecifiedMatching +OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:53753 semapv:UnspecifiedMatching +OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:WAKMAR1 semapv:UnspecifiedMatching +OMIM:618507 WAKMAR1 skos:exactMatch ncbigene:105372576 semapv:UnspecifiedMatching +OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:53754 semapv:UnspecifiedMatching +OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:WAKMAR2 semapv:UnspecifiedMatching +OMIM:618508 WAKMAR2 skos:exactMatch ncbigene:100130476 semapv:UnspecifiedMatching +OMIM:618509 OR2M7 skos:exactMatch hgnc.symbol:19594 semapv:UnspecifiedMatching +OMIM:618509 OR2M7 skos:exactMatch hgnc.symbol:OR2M7 semapv:UnspecifiedMatching +OMIM:618509 OR2M7 skos:exactMatch ncbigene:391196 semapv:UnspecifiedMatching +OMIM:618510 DYTN skos:exactMatch hgnc.symbol:23279 semapv:UnspecifiedMatching +OMIM:618510 DYTN skos:exactMatch hgnc.symbol:DYTN semapv:UnspecifiedMatching +OMIM:618510 DYTN skos:exactMatch ncbigene:391475 semapv:UnspecifiedMatching +OMIM:618511 neuropathy, hereditary motor and sensory, iia vic, with optic atrophy skos:exactMatch MONDO:0032792 semapv:UnspecifiedMatching +OMIM:618512 o'donnell-luria-rodan syndrome skos:exactMatch MONDO:0032793 semapv:UnspecifiedMatching +OMIM:618512 o'donnell-luria-rodan syndrome skos:exactMatch UMLS:C5193138 semapv:UnspecifiedMatching +OMIM:618513 leber congenital amaurosis 19 skos:exactMatch MONDO:0032794 semapv:UnspecifiedMatching +OMIM:618514 BRMS1L skos:exactMatch hgnc.symbol:20512 semapv:UnspecifiedMatching +OMIM:618514 BRMS1L skos:exactMatch hgnc.symbol:BRMS1L semapv:UnspecifiedMatching +OMIM:618514 BRMS1L skos:exactMatch ncbigene:84312 semapv:UnspecifiedMatching +OMIM:618515 TMEM33 skos:exactMatch hgnc.symbol:25541 semapv:UnspecifiedMatching +OMIM:618515 TMEM33 skos:exactMatch hgnc.symbol:TMEM33 semapv:UnspecifiedMatching +OMIM:618515 TMEM33 skos:exactMatch ncbigene:55161 semapv:UnspecifiedMatching +OMIM:618516 OR14I1 skos:exactMatch hgnc.symbol:19575 semapv:UnspecifiedMatching +OMIM:618516 OR14I1 skos:exactMatch hgnc.symbol:OR14I1 semapv:UnspecifiedMatching +OMIM:618516 OR14I1 skos:exactMatch ncbigene:401994 semapv:UnspecifiedMatching +OMIM:618517 ANGPTL7 skos:exactMatch UMLS:C1538275 semapv:UnspecifiedMatching +OMIM:618517 ANGPTL7 skos:exactMatch hgnc.symbol:24078 semapv:UnspecifiedMatching +OMIM:618517 ANGPTL7 skos:exactMatch hgnc.symbol:ANGPTL7 semapv:UnspecifiedMatching +OMIM:618517 ANGPTL7 skos:exactMatch ncbigene:10218 semapv:UnspecifiedMatching +OMIM:618518 LINC00261 skos:exactMatch hgnc.symbol:16189 semapv:UnspecifiedMatching +OMIM:618518 LINC00261 skos:exactMatch hgnc.symbol:LINC00261 semapv:UnspecifiedMatching +OMIM:618518 LINC00261 skos:exactMatch ncbigene:140828 semapv:UnspecifiedMatching +OMIM:618519 C2ORF68 skos:exactMatch hgnc.symbol:34353 semapv:UnspecifiedMatching +OMIM:618519 C2ORF68 skos:exactMatch hgnc.symbol:C2orf68 semapv:UnspecifiedMatching +OMIM:618519 C2ORF68 skos:exactMatch ncbigene:388969 semapv:UnspecifiedMatching +OMIM:618520 EFCAB9 skos:exactMatch hgnc.symbol:34530 semapv:UnspecifiedMatching +OMIM:618520 EFCAB9 skos:exactMatch hgnc.symbol:EFCAB9 semapv:UnspecifiedMatching +OMIM:618520 EFCAB9 skos:exactMatch ncbigene:285588 semapv:UnspecifiedMatching +OMIM:618521 ARMC8 skos:exactMatch hgnc.symbol:24999 semapv:UnspecifiedMatching +OMIM:618521 ARMC8 skos:exactMatch hgnc.symbol:ARMC8 semapv:UnspecifiedMatching +OMIM:618521 ARMC8 skos:exactMatch ncbigene:25852 semapv:UnspecifiedMatching +OMIM:618522 intellectual developmental disorder, autosomal dominant 59 skos:exactMatch MONDO:0032795 semapv:UnspecifiedMatching +OMIM:618522 intellectual developmental disorder, autosomal dominant 59 skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching +OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections skos:exactMatch MONDO:0032796 semapv:UnspecifiedMatching +OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections skos:exactMatch UMLS:C5193141 semapv:UnspecifiedMatching +OMIM:618524 congenital myopathy 16 skos:exactMatch MONDO:0032797 semapv:UnspecifiedMatching +OMIM:618525 CCDC33 skos:exactMatch hgnc.symbol:26552 semapv:UnspecifiedMatching +OMIM:618525 CCDC33 skos:exactMatch hgnc.symbol:CCDC33 semapv:UnspecifiedMatching +OMIM:618525 CCDC33 skos:exactMatch ncbigene:80125 semapv:UnspecifiedMatching +OMIM:618526 PEAK3 skos:exactMatch hgnc.symbol:24793 semapv:UnspecifiedMatching +OMIM:618526 PEAK3 skos:exactMatch hgnc.symbol:PEAK3 semapv:UnspecifiedMatching +OMIM:618526 PEAK3 skos:exactMatch ncbigene:374872 semapv:UnspecifiedMatching +OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch MONDO:0032798 semapv:UnspecifiedMatching +OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch UMLS:C5193147 semapv:UnspecifiedMatching +OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch MONDO:0032799 semapv:UnspecifiedMatching +OMIM:618529 robinow syndrome, autosomal recessive 2 skos:exactMatch MONDO:0032800 semapv:UnspecifiedMatching +OMIM:618530 STKLD1 skos:exactMatch hgnc.symbol:28669 semapv:UnspecifiedMatching +OMIM:618530 STKLD1 skos:exactMatch hgnc.symbol:STKLD1 semapv:UnspecifiedMatching +OMIM:618530 STKLD1 skos:exactMatch ncbigene:169436 semapv:UnspecifiedMatching +OMIM:618531 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch MONDO:0032801 semapv:UnspecifiedMatching +OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:17731 semapv:UnspecifiedMatching +OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:CLASRP semapv:UnspecifiedMatching +OMIM:618532 CLASRP skos:exactMatch ncbigene:11129 semapv:UnspecifiedMatching +OMIM:618533 deafness, autosomal dominant 37 skos:exactMatch MONDO:0032802 semapv:UnspecifiedMatching +OMIM:618533 deafness, autosomal dominant 37 skos:exactMatch UMLS:C4760307 semapv:UnspecifiedMatching +OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch MONDO:0032803 semapv:UnspecifiedMatching +OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching +OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch UMLS:C5231402 semapv:UnspecifiedMatching +OMIM:618535 ectodermal dysplasia 15, hypohidrotic/hair iia skos:exactMatch MONDO:0032804 semapv:UnspecifiedMatching +OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:29938 semapv:UnspecifiedMatching +OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:CACTIN semapv:UnspecifiedMatching +OMIM:618536 CACTIN skos:exactMatch ncbigene:58509 semapv:UnspecifiedMatching +OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:30898 semapv:UnspecifiedMatching +OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:AVPI1 semapv:UnspecifiedMatching +OMIM:618537 AVPI1 skos:exactMatch ncbigene:60370 semapv:UnspecifiedMatching +OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:24546 semapv:UnspecifiedMatching +OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:CNRIP1 semapv:UnspecifiedMatching +OMIM:618538 CNRIP1 skos:exactMatch ncbigene:25927 semapv:UnspecifiedMatching +OMIM:618539 CHERP skos:exactMatch hgnc.symbol:16930 semapv:UnspecifiedMatching +OMIM:618539 CHERP skos:exactMatch hgnc.symbol:CHERP semapv:UnspecifiedMatching +OMIM:618539 CHERP skos:exactMatch ncbigene:10523 semapv:UnspecifiedMatching +OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:14272 semapv:UnspecifiedMatching +OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:CREG2 semapv:UnspecifiedMatching +OMIM:618540 CREG2 skos:exactMatch ncbigene:200407 semapv:UnspecifiedMatching +OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development skos:exactMatch MONDO:0032805 semapv:UnspecifiedMatching +OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:18072 semapv:UnspecifiedMatching +OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:RABL3 semapv:UnspecifiedMatching +OMIM:618542 RABL3 skos:exactMatch ncbigene:285282 semapv:UnspecifiedMatching +OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:25247 semapv:UnspecifiedMatching +OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:CFAP46 semapv:UnspecifiedMatching +OMIM:618543 CFAP46 skos:exactMatch ncbigene:54777 semapv:UnspecifiedMatching +OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:20813 semapv:UnspecifiedMatching +OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:ZSCAN16 semapv:UnspecifiedMatching +OMIM:618544 ZSCAN16 skos:exactMatch ncbigene:80345 semapv:UnspecifiedMatching +OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:21060 semapv:UnspecifiedMatching +OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:GRPEL2 semapv:UnspecifiedMatching +OMIM:618545 GRPEL2 skos:exactMatch ncbigene:134266 semapv:UnspecifiedMatching +OMIM:618546 trichothiodystrophy 7, nonphotosensitive skos:exactMatch MONDO:0032806 semapv:UnspecifiedMatching +OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies skos:exactMatch MONDO:0032807 semapv:UnspecifiedMatching +OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch MONDO:0032808 semapv:UnspecifiedMatching +OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching +OMIM:618549 hepatitis, fulminant viral, susceptibility to skos:exactMatch MONDO:0032809 semapv:UnspecifiedMatching +OMIM:618550 oocyte/zygote/embryo maturation arrest 7 skos:exactMatch MONDO:0032810 semapv:UnspecifiedMatching +OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:29265 semapv:UnspecifiedMatching +OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:MAP10 semapv:UnspecifiedMatching +OMIM:618551 MAP10 skos:exactMatch ncbigene:54627 semapv:UnspecifiedMatching +OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:1367 semapv:UnspecifiedMatching +OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:SPACA9 semapv:UnspecifiedMatching +OMIM:618552 SPACA9 skos:exactMatch ncbigene:11092 semapv:UnspecifiedMatching +OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:54188 semapv:UnspecifiedMatching +OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:BMNCR semapv:UnspecifiedMatching +OMIM:618553 BMNCR skos:exactMatch ncbigene:107985249 semapv:UnspecifiedMatching +OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:13159 semapv:UnspecifiedMatching +OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:ZNF84 semapv:UnspecifiedMatching +OMIM:618554 ZNF84 skos:exactMatch ncbigene:7637 semapv:UnspecifiedMatching +OMIM:618555 night blindness, congenital stationary, type1i skos:exactMatch MONDO:0032811 semapv:UnspecifiedMatching +OMIM:618556 ENHO skos:exactMatch hgnc.symbol:24838 semapv:UnspecifiedMatching +OMIM:618556 ENHO skos:exactMatch hgnc.symbol:ENHO semapv:UnspecifiedMatching +OMIM:618556 ENHO skos:exactMatch ncbigene:375704 semapv:UnspecifiedMatching +OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch MONDO:0032812 semapv:UnspecifiedMatching +OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching +OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:13945 semapv:UnspecifiedMatching +OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:GPSM3 semapv:UnspecifiedMatching +OMIM:618558 GPSM3 skos:exactMatch ncbigene:63940 semapv:UnspecifiedMatching +OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch MONDO:0032813 semapv:UnspecifiedMatching +OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching +OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:26315 semapv:UnspecifiedMatching +OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:B4GALNT4 semapv:UnspecifiedMatching +OMIM:618560 B4GALNT4 skos:exactMatch ncbigene:338707 semapv:UnspecifiedMatching +OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:26133 semapv:UnspecifiedMatching +OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:CWH43 semapv:UnspecifiedMatching +OMIM:618561 CWH43 skos:exactMatch ncbigene:80157 semapv:UnspecifiedMatching +OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:30712 semapv:UnspecifiedMatching +OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:TEX261 semapv:UnspecifiedMatching +OMIM:618562 TEX261 skos:exactMatch ncbigene:113419 semapv:UnspecifiedMatching +OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:22980 semapv:UnspecifiedMatching +OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:SLC10A4 semapv:UnspecifiedMatching +OMIM:618563 SLC10A4 skos:exactMatch ncbigene:201780 semapv:UnspecifiedMatching +OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch MONDO:0032814 semapv:UnspecifiedMatching +OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:24893 semapv:UnspecifiedMatching +OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:H1-7 semapv:UnspecifiedMatching +OMIM:618565 H1-7 skos:exactMatch ncbigene:341567 semapv:UnspecifiedMatching +OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:14152 semapv:UnspecifiedMatching +OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:ANTKMT semapv:UnspecifiedMatching +OMIM:618566 ANTKMT skos:exactMatch ncbigene:65990 semapv:UnspecifiedMatching +OMIM:618567 mitochondrial DNA depletion syndrome 17 skos:exactMatch MONDO:0032815 semapv:UnspecifiedMatching +OMIM:618567 mitochondrial DNA depletion syndrome 17 skos:exactMatch UMLS:C5231412 semapv:UnspecifiedMatching +OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:27029 semapv:UnspecifiedMatching +OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:ATPSCKMT semapv:UnspecifiedMatching +OMIM:618568 ATPSCKMT skos:exactMatch ncbigene:134145 semapv:UnspecifiedMatching +OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch MONDO:0032816 semapv:UnspecifiedMatching +OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching +OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:32669 semapv:UnspecifiedMatching +OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:TRIM71 semapv:UnspecifiedMatching +OMIM:618570 TRIM71 skos:exactMatch ncbigene:131405 semapv:UnspecifiedMatching +OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch MONDO:0032817 semapv:UnspecifiedMatching +OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching +OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:exactMatch MONDO:0032818 semapv:UnspecifiedMatching +OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch MONDO:0032819 semapv:UnspecifiedMatching +OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:23481 semapv:UnspecifiedMatching +OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:DUSP29 semapv:UnspecifiedMatching +OMIM:618574 DUPD1 skos:exactMatch ncbigene:338599 semapv:UnspecifiedMatching +OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:54408 semapv:UnspecifiedMatching +OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:EMSLR semapv:UnspecifiedMatching +OMIM:618575 EMSLR skos:exactMatch ncbigene:101927746 semapv:UnspecifiedMatching +OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:30953 semapv:UnspecifiedMatching +OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:ZBTB10 semapv:UnspecifiedMatching +OMIM:618576 ZBTB10 skos:exactMatch ncbigene:65986 semapv:UnspecifiedMatching +OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch MONDO:0032820 semapv:UnspecifiedMatching +OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch UMLS:C5231416 semapv:UnspecifiedMatching +OMIM:618578 congenital myopathy 19 skos:exactMatch MONDO:0032821 semapv:UnspecifiedMatching +OMIM:618579 DMAC2L skos:exactMatch hgnc.symbol:18799 semapv:UnspecifiedMatching +OMIM:618579 DMAC2L skos:exactMatch hgnc.symbol:DMAC2L semapv:UnspecifiedMatching +OMIM:618579 DMAC2L skos:exactMatch ncbigene:27109 semapv:UnspecifiedMatching +OMIM:618580 developmental and epileptic encephalopathy 80 skos:exactMatch MONDO:0032822 semapv:UnspecifiedMatching +OMIM:618580 developmental and epileptic encephalopathy 80 skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching +OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:33736 semapv:UnspecifiedMatching +OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:ANKRD34B semapv:UnspecifiedMatching +OMIM:618581 ANKRD34B skos:exactMatch ncbigene:340120 semapv:UnspecifiedMatching +OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:22981 semapv:UnspecifiedMatching +OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:SLC10A5 semapv:UnspecifiedMatching +OMIM:618582 SLC10A5 skos:exactMatch ncbigene:347051 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch UMLS:C1425209 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:17971 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:MTRES1 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch ncbigene:51250 semapv:UnspecifiedMatching +OMIM:618584 NME9 skos:exactMatch hgnc.symbol:21343 semapv:UnspecifiedMatching +OMIM:618584 NME9 skos:exactMatch hgnc.symbol:NME9 semapv:UnspecifiedMatching +OMIM:618584 NME9 skos:exactMatch ncbigene:347736 semapv:UnspecifiedMatching +OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:25714 semapv:UnspecifiedMatching +OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:CCDC51 semapv:UnspecifiedMatching +OMIM:618585 CCDC51 skos:exactMatch ncbigene:79714 semapv:UnspecifiedMatching +OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:31406 semapv:UnspecifiedMatching +OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:WDR37 semapv:UnspecifiedMatching +OMIM:618586 WDR37 skos:exactMatch ncbigene:22884 semapv:UnspecifiedMatching +OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch MONDO:0032823 semapv:UnspecifiedMatching +OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching +OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching +OMIM:618588 PDILT skos:exactMatch hgnc.symbol:27338 semapv:UnspecifiedMatching +OMIM:618588 PDILT skos:exactMatch hgnc.symbol:PDILT semapv:UnspecifiedMatching +OMIM:618588 PDILT skos:exactMatch ncbigene:204474 semapv:UnspecifiedMatching +OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:24588 semapv:UnspecifiedMatching +OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:GKN2 semapv:UnspecifiedMatching +OMIM:618589 GKN2 skos:exactMatch ncbigene:200504 semapv:UnspecifiedMatching +OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis skos:exactMatch MONDO:0032824 semapv:UnspecifiedMatching +OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching +OMIM:618591 short sleep, familial natural, 2 skos:exactMatch MONDO:0020786 semapv:UnspecifiedMatching +OMIM:618591 short sleep, familial natural, 2 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching +OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:21487 semapv:UnspecifiedMatching +OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:RNF217 semapv:UnspecifiedMatching +OMIM:618592 RNF217 skos:exactMatch ncbigene:154214 semapv:UnspecifiedMatching +OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:18373 semapv:UnspecifiedMatching +OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:ZNF398 semapv:UnspecifiedMatching +OMIM:618593 ZNF398 skos:exactMatch ncbigene:57541 semapv:UnspecifiedMatching +OMIM:618594 nephrotic syndrome, iia 21 skos:exactMatch MONDO:0032826 semapv:UnspecifiedMatching +OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:16991 semapv:UnspecifiedMatching +OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:CKAP4 semapv:UnspecifiedMatching +OMIM:618595 CKAP4 skos:exactMatch ncbigene:10970 semapv:UnspecifiedMatching +OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch MONDO:0032827 semapv:UnspecifiedMatching +OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching +OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:24163 semapv:UnspecifiedMatching +OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:BEGAIN semapv:UnspecifiedMatching +OMIM:618597 BEGAIN skos:exactMatch ncbigene:57596 semapv:UnspecifiedMatching +OMIM:618598 spastic tetraplegia and axial hypotonia, progressive skos:exactMatch MONDO:0032828 semapv:UnspecifiedMatching +OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:14265 semapv:UnspecifiedMatching +OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:CDH24 semapv:UnspecifiedMatching +OMIM:618599 CDH24 skos:exactMatch ncbigene:64403 semapv:UnspecifiedMatching +OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:30710 semapv:UnspecifiedMatching +OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:CABS1 semapv:UnspecifiedMatching +OMIM:618600 CABS1 skos:exactMatch ncbigene:85438 semapv:UnspecifiedMatching +OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:26115 semapv:UnspecifiedMatching +OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:EXO5 semapv:UnspecifiedMatching +OMIM:618601 EXO5 skos:exactMatch ncbigene:64789 semapv:UnspecifiedMatching +OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:15479 semapv:UnspecifiedMatching +OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:ADAM32 semapv:UnspecifiedMatching +OMIM:618602 ADAM32 skos:exactMatch ncbigene:203102 semapv:UnspecifiedMatching +OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:exactMatch MONDO:0032829 semapv:UnspecifiedMatching +OMIM:618604 snijders blok-fisher syndrome skos:exactMatch MONDO:0032830 semapv:UnspecifiedMatching +OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:20096 semapv:UnspecifiedMatching +OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:ANKRD9 semapv:UnspecifiedMatching +OMIM:618605 ANKRD9 skos:exactMatch ncbigene:122416 semapv:UnspecifiedMatching +OMIM:618606 pontocerebellar hypoplasia, iia 13 skos:exactMatch MONDO:0032831 semapv:UnspecifiedMatching +OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:24785 semapv:UnspecifiedMatching +OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:YJEFN3 semapv:UnspecifiedMatching +OMIM:618607 YJEFN3 skos:exactMatch ncbigene:374887 semapv:UnspecifiedMatching +OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch MONDO:0032832 semapv:UnspecifiedMatching +OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching +OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:24923 semapv:UnspecifiedMatching +OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:HEMK1 semapv:UnspecifiedMatching +OMIM:618609 HEMK1 skos:exactMatch ncbigene:51409 semapv:UnspecifiedMatching +OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:26137 semapv:UnspecifiedMatching +OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:HMBOX1 semapv:UnspecifiedMatching +OMIM:618610 HMBOX1 skos:exactMatch ncbigene:79618 semapv:UnspecifiedMatching +OMIM:618611 HROB skos:exactMatch hgnc.symbol:28460 semapv:UnspecifiedMatching +OMIM:618611 HROB skos:exactMatch hgnc.symbol:HROB semapv:UnspecifiedMatching +OMIM:618611 HROB skos:exactMatch ncbigene:78995 semapv:UnspecifiedMatching +OMIM:618612 lower urinary tract obstruction, congenital skos:exactMatch MONDO:0032833 semapv:UnspecifiedMatching +OMIM:618613 retinitis pigmentosa 86 skos:exactMatch MONDO:0032834 semapv:UnspecifiedMatching +OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:30720 semapv:UnspecifiedMatching +OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:CBY2 semapv:UnspecifiedMatching +OMIM:618614 CBY2 skos:exactMatch ncbigene:220082 semapv:UnspecifiedMatching +OMIM:618615 HEIH skos:exactMatch hgnc.symbol:45049 semapv:UnspecifiedMatching +OMIM:618615 HEIH skos:exactMatch hgnc.symbol:HEIH semapv:UnspecifiedMatching +OMIM:618615 HEIH skos:exactMatch ncbigene:100859930 semapv:UnspecifiedMatching +OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:24667 semapv:UnspecifiedMatching +OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:MAPK15 semapv:UnspecifiedMatching +OMIM:618616 MAPK15 skos:exactMatch ncbigene:225689 semapv:UnspecifiedMatching +OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:21688 semapv:UnspecifiedMatching +OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:ZNHIT1 semapv:UnspecifiedMatching +OMIM:618617 ZNHIT1 skos:exactMatch ncbigene:10467 semapv:UnspecifiedMatching +OMIM:618618 spondyloepiphyseal dysplasia, nishimura iia skos:exactMatch MONDO:0032835 semapv:UnspecifiedMatching +OMIM:618619 weiss-kruszka syndrome skos:exactMatch MONDO:0032836 semapv:UnspecifiedMatching +OMIM:618620 abdominal obesity-metabolic syndrome 4 skos:exactMatch MONDO:0032837 semapv:UnspecifiedMatching +OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:18469 semapv:UnspecifiedMatching +OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:ZDHHC2 semapv:UnspecifiedMatching +OMIM:618621 ZDHHC2 skos:exactMatch ncbigene:51201 semapv:UnspecifiedMatching +OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch MONDO:0032838 semapv:UnspecifiedMatching +OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:29527 semapv:UnspecifiedMatching +OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:HIGD1A semapv:UnspecifiedMatching +OMIM:618623 HIGD1A skos:exactMatch ncbigene:25994 semapv:UnspecifiedMatching +OMIM:618624 noonan syndrome 12 skos:exactMatch MONDO:0032839 semapv:UnspecifiedMatching +OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch MONDO:0016368 semapv:UnspecifiedMatching +OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch Orphanet:221008 semapv:UnspecifiedMatching +OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching +OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C5231433 semapv:UnspecifiedMatching +OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:16200 semapv:UnspecifiedMatching +OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:PCIF1 semapv:UnspecifiedMatching +OMIM:618626 PCIF1 skos:exactMatch ncbigene:63935 semapv:UnspecifiedMatching +OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:23843 semapv:UnspecifiedMatching +OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:GMCL1 semapv:UnspecifiedMatching +OMIM:618627 GMCL1 skos:exactMatch ncbigene:64395 semapv:UnspecifiedMatching +OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:25006 semapv:UnspecifiedMatching +OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:METTL5 semapv:UnspecifiedMatching +OMIM:618628 METTL5 skos:exactMatch ncbigene:29081 semapv:UnspecifiedMatching +OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:19717 semapv:UnspecifiedMatching +OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:GMCL2 semapv:UnspecifiedMatching +OMIM:618629 GMCL2 skos:exactMatch ncbigene:64396 semapv:UnspecifiedMatching +OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:26940 semapv:UnspecifiedMatching +OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:TRMT112 semapv:UnspecifiedMatching +OMIM:618630 TRMT112 skos:exactMatch ncbigene:51504 semapv:UnspecifiedMatching +OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:20186 semapv:UnspecifiedMatching +OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:NRDE2 semapv:UnspecifiedMatching +OMIM:618631 NRDE2 skos:exactMatch ncbigene:55051 semapv:UnspecifiedMatching +OMIM:618632 usher syndrome, iia 1m skos:exactMatch MONDO:0032841 semapv:UnspecifiedMatching +OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:11039 semapv:UnspecifiedMatching +OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:SLC5A4 semapv:UnspecifiedMatching +OMIM:618633 SLC5A4 skos:exactMatch ncbigene:6527 semapv:UnspecifiedMatching +OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:17567 semapv:UnspecifiedMatching +OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:DLEU7 semapv:UnspecifiedMatching +OMIM:618634 DLEU7 skos:exactMatch ncbigene:220107 semapv:UnspecifiedMatching +OMIM:618635 siddiqi syndrome skos:exactMatch MONDO:0032842 semapv:UnspecifiedMatching +OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:23155 semapv:UnspecifiedMatching +OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:SLC5A10 semapv:UnspecifiedMatching +OMIM:618636 SLC5A10 skos:exactMatch ncbigene:125206 semapv:UnspecifiedMatching +OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch MONDO:0032843 semapv:UnspecifiedMatching +OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching +OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:26117 semapv:UnspecifiedMatching +OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:HECTD3 semapv:UnspecifiedMatching +OMIM:618638 HECTD3 skos:exactMatch ncbigene:79654 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C3890651 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:51204 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:NUTM2B-AS1 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch ncbigene:101060691 semapv:UnspecifiedMatching +OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:28972 semapv:UnspecifiedMatching +OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:ZC3H3 semapv:UnspecifiedMatching +OMIM:618640 ZC3H3 skos:exactMatch ncbigene:23144 semapv:UnspecifiedMatching +OMIM:618641 infantile liver failure syndrome 3 skos:exactMatch MONDO:0032844 semapv:UnspecifiedMatching +OMIM:618642 SH3RF1 skos:exactMatch UMLS:C1822713 semapv:UnspecifiedMatching +OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:17650 semapv:UnspecifiedMatching +OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:SH3RF1 semapv:UnspecifiedMatching +OMIM:618642 SH3RF1 skos:exactMatch ncbigene:57630 semapv:UnspecifiedMatching +OMIM:618643 spermatogenic failure 39 skos:exactMatch MONDO:0032845 semapv:UnspecifiedMatching +OMIM:618644 osteogenesis imperfecta, iia 20 skos:exactMatch MONDO:0032846 semapv:UnspecifiedMatching +OMIM:618644 osteogenesis imperfecta, iia 20 skos:exactMatch UMLS:C5231439 semapv:UnspecifiedMatching +OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:20816 semapv:UnspecifiedMatching +OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:PHF12 semapv:UnspecifiedMatching +OMIM:618645 PHF12 skos:exactMatch ncbigene:57649 semapv:UnspecifiedMatching +OMIM:618646 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:exactMatch MONDO:0020762 semapv:UnspecifiedMatching +OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:14325 semapv:UnspecifiedMatching +OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:C1QTNF2 semapv:UnspecifiedMatching +OMIM:618647 C1QTNF2 skos:exactMatch ncbigene:114898 semapv:UnspecifiedMatching +OMIM:618648 immunodeficiency 65, susceptibility to viral infections skos:exactMatch MONDO:0032848 semapv:UnspecifiedMatching +OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:20157 semapv:UnspecifiedMatching +OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:HECTD1 semapv:UnspecifiedMatching +OMIM:618649 HECTD1 skos:exactMatch ncbigene:25831 semapv:UnspecifiedMatching +OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:26961 semapv:UnspecifiedMatching +OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:RNF169 semapv:UnspecifiedMatching +OMIM:618650 RNF169 skos:exactMatch ncbigene:254225 semapv:UnspecifiedMatching +OMIM:618651 halperin-birk syndrome skos:exactMatch MONDO:0032849 semapv:UnspecifiedMatching +OMIM:618652 neurooculocardiogenitourinary syndrome skos:exactMatch MONDO:0032850 semapv:UnspecifiedMatching +OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch MONDO:0032851 semapv:UnspecifiedMatching +OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching +OMIM:618654 congenital myopathy 8 skos:exactMatch MONDO:0032852 semapv:UnspecifiedMatching +OMIM:618654 congenital myopathy 8 skos:exactMatch UMLS:C5231445 semapv:UnspecifiedMatching +OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant skos:exactMatch MONDO:0032853 semapv:UnspecifiedMatching +OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:52293 semapv:UnspecifiedMatching +OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:PERCC1 semapv:UnspecifiedMatching +OMIM:618656 PERCC1 skos:exactMatch ncbigene:105371045 semapv:UnspecifiedMatching +OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:24320 semapv:UnspecifiedMatching +OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:LARP4 semapv:UnspecifiedMatching +OMIM:618657 LARP4 skos:exactMatch ncbigene:113251 semapv:UnspecifiedMatching +OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch MONDO:0032854 semapv:UnspecifiedMatching +OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch Orphanet:3473 semapv:UnspecifiedMatching +OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch UMLS:C5231447 semapv:UnspecifiedMatching +OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch MONDO:0032855 semapv:UnspecifiedMatching +OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching +OMIM:618660 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch MONDO:0019531 semapv:UnspecifiedMatching +OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:30726 semapv:UnspecifiedMatching +OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:CFAP70 semapv:UnspecifiedMatching +OMIM:618661 CFAP70 skos:exactMatch ncbigene:118491 semapv:UnspecifiedMatching +OMIM:618662 diarrhea 11, malabsorptive, congenital skos:exactMatch MONDO:0032857 semapv:UnspecifiedMatching +OMIM:618663 developmental and epileptic encephalopathy 81 skos:exactMatch MONDO:0032858 semapv:UnspecifiedMatching +OMIM:618663 developmental and epileptic encephalopathy 81 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching +OMIM:618664 spermatogenic failure 40 skos:exactMatch MONDO:0032859 semapv:UnspecifiedMatching +OMIM:618664 spermatogenic failure 40 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching +OMIM:618664 spermatogenic failure 40 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching +OMIM:618665 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch MONDO:0032860 semapv:UnspecifiedMatching +OMIM:618666 sitosterolemia 2 skos:exactMatch MONDO:0020748 semapv:UnspecifiedMatching +OMIM:618666 sitosterolemia 2 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching +OMIM:618666 sitosterolemia 2 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching +OMIM:618667 hydrocephalus, congenital, 4 skos:exactMatch MONDO:0032862 semapv:UnspecifiedMatching +OMIM:618668 GABRR3 skos:exactMatch hgnc.symbol:17969 semapv:UnspecifiedMatching +OMIM:618668 GABRR3 skos:exactMatch hgnc.symbol:GABRR3 semapv:UnspecifiedMatching +OMIM:618668 GABRR3 skos:exactMatch ncbigene:200959 semapv:UnspecifiedMatching +OMIM:618669 YTHDF3 skos:exactMatch UMLS:C1538136 semapv:UnspecifiedMatching +OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:26465 semapv:UnspecifiedMatching +OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:YTHDF3 semapv:UnspecifiedMatching +OMIM:618669 YTHDF3 skos:exactMatch ncbigene:253943 semapv:UnspecifiedMatching +OMIM:618670 spermatogenic failure 41 skos:exactMatch MONDO:0032863 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch UMLS:C1427090 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:20713 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:ZDHHC19 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch ncbigene:131540 semapv:UnspecifiedMatching +OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch MONDO:0032864 semapv:UnspecifiedMatching +OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching +OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:25820 semapv:UnspecifiedMatching +OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:ZYG11B semapv:UnspecifiedMatching +OMIM:618673 ZYG11B skos:exactMatch ncbigene:79699 semapv:UnspecifiedMatching +OMIM:618674 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 skos:exactMatch MONDO:0032865 semapv:UnspecifiedMatching +OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:32058 semapv:UnspecifiedMatching +OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:ZYG11A semapv:UnspecifiedMatching +OMIM:618675 ZYG11A skos:exactMatch ncbigene:440590 semapv:UnspecifiedMatching +OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:17908 semapv:UnspecifiedMatching +OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:ZBTB43 semapv:UnspecifiedMatching +OMIM:618676 ZBTB43 skos:exactMatch ncbigene:23099 semapv:UnspecifiedMatching +OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 skos:exactMatch MONDO:0032866 semapv:UnspecifiedMatching +OMIM:618678 CES5A skos:exactMatch hgnc.symbol:26459 semapv:UnspecifiedMatching +OMIM:618678 CES5A skos:exactMatch hgnc.symbol:CES5A semapv:UnspecifiedMatching +OMIM:618678 CES5A skos:exactMatch ncbigene:221223 semapv:UnspecifiedMatching +OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:13821 semapv:UnspecifiedMatching +OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:GFRA4 semapv:UnspecifiedMatching +OMIM:618679 GFRA4 skos:exactMatch ncbigene:64096 semapv:UnspecifiedMatching +OMIM:618680 pancreatic cancer, susceptibility to, 5 skos:exactMatch MONDO:0032867 semapv:UnspecifiedMatching +OMIM:618680 pancreatic cancer, susceptibility to, 5 skos:exactMatch UMLS:C5231459 semapv:UnspecifiedMatching +OMIM:618681 lessel-kubisch syndrome skos:exactMatch MONDO:0032868 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch UMLS:C1823808 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:32331 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:CFAP276 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch ncbigene:127003 semapv:UnspecifiedMatching +OMIM:618683 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 6 skos:exactMatch MONDO:0032869 semapv:UnspecifiedMatching +OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:29118 semapv:UnspecifiedMatching +OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:TMEM63A semapv:UnspecifiedMatching +OMIM:618685 TMEM63A skos:exactMatch ncbigene:9725 semapv:UnspecifiedMatching +OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:26554 semapv:UnspecifiedMatching +OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:TEKT5 semapv:UnspecifiedMatching +OMIM:618686 TEKT5 skos:exactMatch ncbigene:146279 semapv:UnspecifiedMatching +OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch MONDO:0032870 semapv:UnspecifiedMatching +OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile skos:exactMatch MONDO:0032871 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch UMLS:C1422545 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:14288 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:NTNG2 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch ncbigene:84628 semapv:UnspecifiedMatching +OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:17203 semapv:UnspecifiedMatching +OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:PSORS1C3 semapv:UnspecifiedMatching +OMIM:618690 PSORS1C3 skos:exactMatch ncbigene:100130889 semapv:UnspecifiedMatching +OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:26763 semapv:UnspecifiedMatching +OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:TMEM266 semapv:UnspecifiedMatching +OMIM:618691 TMEM266 skos:exactMatch ncbigene:123591 semapv:UnspecifiedMatching +OMIM:618692 VGLL4 skos:exactMatch UMLS:C1540180 semapv:UnspecifiedMatching +OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:28966 semapv:UnspecifiedMatching +OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:VGLL4 semapv:UnspecifiedMatching +OMIM:618692 VGLL4 skos:exactMatch ncbigene:9686 semapv:UnspecifiedMatching +OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:15944 semapv:UnspecifiedMatching +OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:CELA3A semapv:UnspecifiedMatching +OMIM:618693 CELA3A skos:exactMatch ncbigene:10136 semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch UMLS:C1423849 semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:15945 semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:CELA3B semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch ncbigene:23436 semapv:UnspecifiedMatching +OMIM:618695 ciliary dyskinesia, primary, 42 skos:exactMatch MONDO:0032872 semapv:UnspecifiedMatching +OMIM:618696 GFY skos:exactMatch hgnc.symbol:44663 semapv:UnspecifiedMatching +OMIM:618696 GFY skos:exactMatch hgnc.symbol:GFY semapv:UnspecifiedMatching +OMIM:618696 GFY skos:exactMatch ncbigene:100507003 semapv:UnspecifiedMatching +OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch MONDO:0032873 semapv:UnspecifiedMatching +OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch UMLS:C2239362 semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch hgnc.symbol:33345 semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch hgnc.symbol:DUXB semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch ncbigene:100033411 semapv:UnspecifiedMatching +OMIM:618699 ciliary dyskinesia, primary, 43 skos:exactMatch MONDO:0032874 semapv:UnspecifiedMatching +OMIM:618699 ciliary dyskinesia, primary, 43 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching +OMIM:618700 CPHXL skos:exactMatch UMLS:C4085168 semapv:UnspecifiedMatching +OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:51815 semapv:UnspecifiedMatching +OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:CPHXL semapv:UnspecifiedMatching +OMIM:618700 CPHXL skos:exactMatch ncbigene:105371346 semapv:UnspecifiedMatching +OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:31953 semapv:UnspecifiedMatching +OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:LEUTX semapv:UnspecifiedMatching +OMIM:618701 LEUTX skos:exactMatch ncbigene:342900 semapv:UnspecifiedMatching +OMIM:618702 short stature and microcephaly with genital anomalies skos:exactMatch MONDO:0032875 semapv:UnspecifiedMatching +OMIM:618702 short stature and microcephaly with genital anomalies skos:exactMatch UMLS:C5231467 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch UMLS:C1421767 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:13075 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:ZNF281 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch ncbigene:23528 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch UMLS:C3890126 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:33720 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:CFAP221 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch ncbigene:200373 semapv:UnspecifiedMatching +OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:19866 semapv:UnspecifiedMatching +OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:MBTD1 semapv:UnspecifiedMatching +OMIM:618705 MBTD1 skos:exactMatch ncbigene:54799 semapv:UnspecifiedMatching +OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:43748 semapv:UnspecifiedMatching +OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:HOXA-AS3 semapv:UnspecifiedMatching +OMIM:618706 HOXAAS3 skos:exactMatch ncbigene:100133311 semapv:UnspecifiedMatching +OMIM:618707 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch MONDO:0032876 semapv:UnspecifiedMatching +OMIM:618707 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch UMLS:C5231469 semapv:UnspecifiedMatching +OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:20691 semapv:UnspecifiedMatching +OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:NBR2 semapv:UnspecifiedMatching +OMIM:618708 NBR2 skos:exactMatch ncbigene:10230 semapv:UnspecifiedMatching +OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:exactMatch MONDO:0032877 semapv:UnspecifiedMatching +OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:32790 semapv:UnspecifiedMatching +OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:PNO1 semapv:UnspecifiedMatching +OMIM:618710 PNO1 skos:exactMatch ncbigene:56902 semapv:UnspecifiedMatching +OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:26606 semapv:UnspecifiedMatching +OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:METTL15 semapv:UnspecifiedMatching +OMIM:618711 METTL15 skos:exactMatch ncbigene:196074 semapv:UnspecifiedMatching +OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:24786 semapv:UnspecifiedMatching +OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:ANKRD45 semapv:UnspecifiedMatching +OMIM:618712 ANKRD45 skos:exactMatch ncbigene:339416 semapv:UnspecifiedMatching +OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:18525 semapv:UnspecifiedMatching +OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:CYS1 semapv:UnspecifiedMatching +OMIM:618713 CYS1 skos:exactMatch ncbigene:192668 semapv:UnspecifiedMatching +OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:29176 semapv:UnspecifiedMatching +OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:RAP1GAP2 semapv:UnspecifiedMatching +OMIM:618714 RAP1GAP2 skos:exactMatch ncbigene:23108 semapv:UnspecifiedMatching +OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:19160 semapv:UnspecifiedMatching +OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:ZDHHC6 semapv:UnspecifiedMatching +OMIM:618715 ZDHHC6 skos:exactMatch ncbigene:64429 semapv:UnspecifiedMatching +OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:25464 semapv:UnspecifiedMatching +OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:ATG16L2 semapv:UnspecifiedMatching +OMIM:618716 ATG16L2 skos:exactMatch ncbigene:89849 semapv:UnspecifiedMatching +OMIM:618717 EPGN skos:exactMatch hgnc.symbol:17470 semapv:UnspecifiedMatching +OMIM:618717 EPGN skos:exactMatch hgnc.symbol:EPGN semapv:UnspecifiedMatching +OMIM:618717 EPGN skos:exactMatch ncbigene:255324 semapv:UnspecifiedMatching +OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch MONDO:0032878 semapv:UnspecifiedMatching +OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching +OMIM:618719 megabladder, congenital skos:exactMatch MONDO:0032879 semapv:UnspecifiedMatching +OMIM:618719 megabladder, congenital skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching +OMIM:618720 PDF skos:exactMatch hgnc.symbol:30012 semapv:UnspecifiedMatching +OMIM:618720 PDF skos:exactMatch hgnc.symbol:PDF semapv:UnspecifiedMatching +OMIM:618720 PDF skos:exactMatch ncbigene:64146 semapv:UnspecifiedMatching +OMIM:618721 developmental and epileptic encephalopathy 82 skos:exactMatch MONDO:0032880 semapv:UnspecifiedMatching +OMIM:618721 developmental and epileptic encephalopathy 82 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching +OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:16102 semapv:UnspecifiedMatching +OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:FAM210B semapv:UnspecifiedMatching +OMIM:618722 FAM210B skos:exactMatch ncbigene:116151 semapv:UnspecifiedMatching +OMIM:618723 premature ovarian failure 16 skos:exactMatch MONDO:0032881 semapv:UnspecifiedMatching +OMIM:618723 premature ovarian failure 16 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching +OMIM:618723 premature ovarian failure 16 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching +OMIM:618724 heyn-sproul-jackson syndrome skos:exactMatch MONDO:0032882 semapv:UnspecifiedMatching +OMIM:618724 heyn-sproul-jackson syndrome skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching +OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch MONDO:0032883 semapv:UnspecifiedMatching +OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch UMLS:C1425630 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:18592 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:NEK10 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch ncbigene:152110 semapv:UnspecifiedMatching +OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch MONDO:0032884 semapv:UnspecifiedMatching +OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch UMLS:C5231477 semapv:UnspecifiedMatching +OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia skos:exactMatch MONDO:0032885 semapv:UnspecifiedMatching +OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching +OMIM:618729 liang-wang syndrome skos:exactMatch MONDO:0032886 semapv:UnspecifiedMatching +OMIM:618729 liang-wang syndrome skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching +OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch MONDO:0032887 semapv:UnspecifiedMatching +OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching +OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch MONDO:0032888 semapv:UnspecifiedMatching +OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch UMLS:C5231481 semapv:UnspecifiedMatching +OMIM:618732 poirier-bienvenu neurodevelopmental syndrome skos:exactMatch MONDO:0032889 semapv:UnspecifiedMatching +OMIM:618732 poirier-bienvenu neurodevelopmental syndrome skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching +OMIM:618733 neuromuscular oculoauditory syndrome skos:exactMatch MONDO:0032890 semapv:UnspecifiedMatching +OMIM:618733 neuromuscular oculoauditory syndrome skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching +OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch MONDO:0032891 semapv:UnspecifiedMatching +OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching +OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch UMLS:C1823533 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:29936 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:TTC29 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch ncbigene:83894 semapv:UnspecifiedMatching +OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch MONDO:0032892 semapv:UnspecifiedMatching +OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching +OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 skos:exactMatch MONDO:0032893 semapv:UnspecifiedMatching +OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching +OMIM:618738 TTLL4 skos:exactMatch hgnc.symbol:28976 semapv:UnspecifiedMatching +OMIM:618738 TTLL4 skos:exactMatch hgnc.symbol:TTLL4 semapv:UnspecifiedMatching +OMIM:618738 TTLL4 skos:exactMatch ncbigene:9654 semapv:UnspecifiedMatching +OMIM:618739 CTDSPL2 skos:exactMatch UMLS:C1824809 semapv:UnspecifiedMatching +OMIM:618739 CTDSPL2 skos:exactMatch hgnc.symbol:26936 semapv:UnspecifiedMatching +OMIM:618739 CTDSPL2 skos:exactMatch hgnc.symbol:CTDSPL2 semapv:UnspecifiedMatching +OMIM:618739 CTDSPL2 skos:exactMatch ncbigene:51496 semapv:UnspecifiedMatching +OMIM:618740 CCDC154 skos:exactMatch UMLS:C2681330 semapv:UnspecifiedMatching +OMIM:618740 CCDC154 skos:exactMatch hgnc.symbol:34454 semapv:UnspecifiedMatching +OMIM:618740 CCDC154 skos:exactMatch hgnc.symbol:CCDC154 semapv:UnspecifiedMatching +OMIM:618740 CCDC154 skos:exactMatch ncbigene:645811 semapv:UnspecifiedMatching +OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch MONDO:0032894 semapv:UnspecifiedMatching +OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching +OMIM:618742 ZBTB8A skos:exactMatch UMLS:C1428355 semapv:UnspecifiedMatching +OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:24172 semapv:UnspecifiedMatching +OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:ZBTB8A semapv:UnspecifiedMatching +OMIM:618742 ZBTB8A skos:exactMatch ncbigene:653121 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch UMLS:C1826651 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:28174 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:PLPP7 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch ncbigene:84814 semapv:UnspecifiedMatching +OMIM:618744 developmental and epileptic encephalopathy 83 skos:exactMatch MONDO:0032895 semapv:UnspecifiedMatching +OMIM:618744 developmental and epileptic encephalopathy 83 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching +OMIM:618745 spermatogenic failure 42 skos:exactMatch MONDO:0032896 semapv:UnspecifiedMatching +OMIM:618745 spermatogenic failure 42 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching +OMIM:618745 spermatogenic failure 42 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching +OMIM:618746 CTXN3 skos:exactMatch UMLS:C1429082 semapv:UnspecifiedMatching +OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:31110 semapv:UnspecifiedMatching +OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:CTXN3 semapv:UnspecifiedMatching +OMIM:618746 CTXN3 skos:exactMatch ncbigene:613212 semapv:UnspecifiedMatching +OMIM:618747 C1ORF61 skos:exactMatch UMLS:C1823207 semapv:UnspecifiedMatching +OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:30780 semapv:UnspecifiedMatching +OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:MIR9-1HG semapv:UnspecifiedMatching +OMIM:618747 C1ORF61 skos:exactMatch ncbigene:10485 semapv:UnspecifiedMatching +OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch MONDO:0032897 semapv:UnspecifiedMatching +OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch UMLS:C1424621 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:16895 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:LRRC17 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch ncbigene:10234 semapv:UnspecifiedMatching +OMIM:618750 ABT1 skos:exactMatch UMLS:C1424941 semapv:UnspecifiedMatching +OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:17369 semapv:UnspecifiedMatching +OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:ABT1 semapv:UnspecifiedMatching +OMIM:618750 ABT1 skos:exactMatch ncbigene:29777 semapv:UnspecifiedMatching +OMIM:618751 spermatogenic failure 43 skos:exactMatch MONDO:0032898 semapv:UnspecifiedMatching +OMIM:618751 spermatogenic failure 43 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching +OMIM:618751 spermatogenic failure 43 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching +OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch MONDO:0032899 semapv:UnspecifiedMatching +OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching +OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch UMLS:C1825888 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:16917 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:LRRC41 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch ncbigene:10489 semapv:UnspecifiedMatching +OMIM:618754 CPQ skos:exactMatch UMLS:C2985237 semapv:UnspecifiedMatching +OMIM:618754 CPQ skos:exactMatch hgnc.symbol:16910 semapv:UnspecifiedMatching +OMIM:618754 CPQ skos:exactMatch hgnc.symbol:CPQ semapv:UnspecifiedMatching +OMIM:618754 CPQ skos:exactMatch ncbigene:10404 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch UMLS:C3469749 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:41909 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:STMP1 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch ncbigene:647087 semapv:UnspecifiedMatching +OMIM:618756 ABHD10 skos:exactMatch UMLS:C1538895 semapv:UnspecifiedMatching +OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:25656 semapv:UnspecifiedMatching +OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:ABHD10 semapv:UnspecifiedMatching +OMIM:618756 ABHD10 skos:exactMatch ncbigene:55347 semapv:UnspecifiedMatching +OMIM:618757 CYB561A3 skos:exactMatch UMLS:C3543729 semapv:UnspecifiedMatching +OMIM:618757 CYB561A3 skos:exactMatch hgnc.symbol:23014 semapv:UnspecifiedMatching +OMIM:618757 CYB561A3 skos:exactMatch hgnc.symbol:CYB561A3 semapv:UnspecifiedMatching +OMIM:618757 CYB561A3 skos:exactMatch ncbigene:220002 semapv:UnspecifiedMatching +OMIM:618758 DRC3 skos:exactMatch UMLS:C1825895 semapv:UnspecifiedMatching +OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:25384 semapv:UnspecifiedMatching +OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:DRC3 semapv:UnspecifiedMatching +OMIM:618758 DRC3 skos:exactMatch ncbigene:83450 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch UMLS:C1427154 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:20834 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:CABP7 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch ncbigene:164633 semapv:UnspecifiedMatching +OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch MONDO:0032900 semapv:UnspecifiedMatching +OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch UMLS:C5231491 semapv:UnspecifiedMatching +OMIM:618761 catifa syndrome skos:exactMatch MONDO:0032901 semapv:UnspecifiedMatching +OMIM:618761 catifa syndrome skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching +OMIM:618762 DNPH1 skos:exactMatch UMLS:C1427424 semapv:UnspecifiedMatching +OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:21218 semapv:UnspecifiedMatching +OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:DNPH1 semapv:UnspecifiedMatching +OMIM:618762 DNPH1 skos:exactMatch ncbigene:10591 semapv:UnspecifiedMatching +OMIM:618763 joubert syndrome 36 skos:exactMatch MONDO:0032902 semapv:UnspecifiedMatching +OMIM:618763 joubert syndrome 36 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching +OMIM:618763 joubert syndrome 36 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch UMLS:C1428228 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:23727 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:CACUL1 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch ncbigene:143384 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch UMLS:C1825066 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:15898 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:ESF1 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch ncbigene:51575 semapv:UnspecifiedMatching +OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch MONDO:0032903 semapv:UnspecifiedMatching +OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching +OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch MONDO:0032904 semapv:UnspecifiedMatching +OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching +OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching +OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch MONDO:0032905 semapv:UnspecifiedMatching +OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch Orphanet:506353 semapv:UnspecifiedMatching +OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch UMLS:C1540249 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:25289 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:DRC7 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch ncbigene:84229 semapv:UnspecifiedMatching +OMIM:618770 spastic paraplegia 82, autosomal recessive skos:exactMatch MONDO:0032906 semapv:UnspecifiedMatching +OMIM:618770 spastic paraplegia 82, autosomal recessive skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch UMLS:C1538897 semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:24538 semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:ABHD14A semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch ncbigene:25864 semapv:UnspecifiedMatching +OMIM:618772 CABLES2 skos:exactMatch UMLS:C1424021 semapv:UnspecifiedMatching +OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:16143 semapv:UnspecifiedMatching +OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:CABLES2 semapv:UnspecifiedMatching +OMIM:618772 CABLES2 skos:exactMatch ncbigene:81928 semapv:UnspecifiedMatching +OMIM:618773 lymphatic malformation 8 skos:exactMatch MONDO:0032907 semapv:UnspecifiedMatching +OMIM:618773 lymphatic malformation 8 skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching +OMIM:618774 cebalid syndrome skos:exactMatch MONDO:0032908 semapv:UnspecifiedMatching +OMIM:618774 cebalid syndrome skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching +OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch MONDO:0032909 semapv:UnspecifiedMatching +OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching +OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching +OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch MONDO:0032910 semapv:UnspecifiedMatching +OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching +OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching +OMIM:618777 CAPN8 skos:exactMatch UMLS:C1413118 semapv:UnspecifiedMatching +OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:1485 semapv:UnspecifiedMatching +OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:CAPN8 semapv:UnspecifiedMatching +OMIM:618777 CAPN8 skos:exactMatch ncbigene:388743 semapv:UnspecifiedMatching +OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch MONDO:0032911 semapv:UnspecifiedMatching +OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching +OMIM:618779 coffin-siris syndrome 11 skos:exactMatch MONDO:0032912 semapv:UnspecifiedMatching +OMIM:618779 coffin-siris syndrome 11 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching +OMIM:618779 coffin-siris syndrome 11 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching +OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch MONDO:0032913 semapv:UnspecifiedMatching +OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch Orphanet:3303 semapv:UnspecifiedMatching +OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching +OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch MONDO:0032914 semapv:UnspecifiedMatching +OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching +OMIM:618782 long qt syndrome 16 skos:exactMatch MONDO:0032915 semapv:UnspecifiedMatching +OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching +OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch UMLS:C1413182 semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch hgnc.symbol:1595 semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch hgnc.symbol:CCNI semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch ncbigene:10983 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch UMLS:C1823748 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:25022 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:PITHD1 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch ncbigene:57095 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch UMLS:C1422795 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:14623 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:CDCA2 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch ncbigene:157313 semapv:UnspecifiedMatching +OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch MONDO:0032916 semapv:UnspecifiedMatching +OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching +OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching +OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch MONDO:0032917 semapv:UnspecifiedMatching +OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching +OMIM:618788 CCDC134 skos:exactMatch UMLS:C1824660 semapv:UnspecifiedMatching +OMIM:618788 CCDC134 skos:exactMatch hgnc.symbol:26185 semapv:UnspecifiedMatching +OMIM:618788 CCDC134 skos:exactMatch hgnc.symbol:CCDC134 semapv:UnspecifiedMatching +OMIM:618788 CCDC134 skos:exactMatch ncbigene:79879 semapv:UnspecifiedMatching +OMIM:618789 CDV3 skos:exactMatch UMLS:C1824690 semapv:UnspecifiedMatching +OMIM:618789 CDV3 skos:exactMatch hgnc.symbol:26928 semapv:UnspecifiedMatching +OMIM:618789 CDV3 skos:exactMatch hgnc.symbol:CDV3 semapv:UnspecifiedMatching +OMIM:618789 CDV3 skos:exactMatch ncbigene:55573 semapv:UnspecifiedMatching +OMIM:618790 KCTD21 skos:exactMatch UMLS:C1825647 semapv:UnspecifiedMatching +OMIM:618790 KCTD21 skos:exactMatch hgnc.symbol:27452 semapv:UnspecifiedMatching +OMIM:618790 KCTD21 skos:exactMatch hgnc.symbol:KCTD21 semapv:UnspecifiedMatching +OMIM:618790 KCTD21 skos:exactMatch ncbigene:283219 semapv:UnspecifiedMatching +OMIM:618791 KCTD6 skos:exactMatch UMLS:C1427766 semapv:UnspecifiedMatching +OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:22235 semapv:UnspecifiedMatching +OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:KCTD6 semapv:UnspecifiedMatching +OMIM:618791 KCTD6 skos:exactMatch ncbigene:200845 semapv:UnspecifiedMatching +OMIM:618792 developmental and epileptic encephalopathy 84 skos:exactMatch MONDO:0032918 semapv:UnspecifiedMatching +OMIM:618792 developmental and epileptic encephalopathy 84 skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching +OMIM:618793 intellectual developmental disorder, autosomal dominant 62 skos:exactMatch MONDO:0032919 semapv:UnspecifiedMatching +OMIM:618793 intellectual developmental disorder, autosomal dominant 62 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch UMLS:C1825643 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:29104 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:KBTBD11 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch ncbigene:9920 semapv:UnspecifiedMatching +OMIM:618795 juvenile arthritis skos:exactMatch MONDO:0032920 semapv:UnspecifiedMatching +OMIM:618795 juvenile arthritis skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching +OMIM:618795 juvenile arthritis skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching +OMIM:618796 SAC3D1 skos:exactMatch UMLS:C1539720 semapv:UnspecifiedMatching +OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:30179 semapv:UnspecifiedMatching +OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:SAC3D1 semapv:UnspecifiedMatching +OMIM:618796 SAC3D1 skos:exactMatch ncbigene:29901 semapv:UnspecifiedMatching +OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch MONDO:0032921 semapv:UnspecifiedMatching +OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching +OMIM:618798 beck-fahrner syndrome skos:exactMatch MONDO:0032922 semapv:UnspecifiedMatching +OMIM:618798 beck-fahrner syndrome skos:exactMatch UMLS:C5394097 semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch UMLS:C1824527 semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:28375 semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:CAPSL semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch ncbigene:133690 semapv:UnspecifiedMatching +OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch MONDO:0032923 semapv:UnspecifiedMatching +OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching +OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch MONDO:0032924 semapv:UnspecifiedMatching +OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch UMLS:C1823272 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch hgnc.symbol:26053 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch hgnc.symbol:THG1L semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch ncbigene:54974 semapv:UnspecifiedMatching +OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch MONDO:0032925 semapv:UnspecifiedMatching +OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching +OMIM:618804 sandestig-stefanova syndrome skos:exactMatch MONDO:0032926 semapv:UnspecifiedMatching +OMIM:618804 sandestig-stefanova syndrome skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching +OMIM:618805 triokinase and fmn cyclase deficiency syndrome skos:exactMatch MONDO:0032927 semapv:UnspecifiedMatching +OMIM:618805 triokinase and fmn cyclase deficiency syndrome skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching +OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch MONDO:0032928 semapv:UnspecifiedMatching +OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching +OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching +OMIM:618807 lipoprotein(a) quantitative trait locus skos:exactMatch UMLS:C5394134 semapv:UnspecifiedMatching +OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch MONDO:0032930 semapv:UnspecifiedMatching +OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch UMLS:C5394135 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch UMLS:C3890491 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:50696 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:PIGBOS1 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch ncbigene:101928527 semapv:UnspecifiedMatching +OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch MONDO:0032931 semapv:UnspecifiedMatching +OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching +OMIM:618811 mitochondrial DNA depletion syndrome 18 skos:exactMatch MONDO:0032932 semapv:UnspecifiedMatching +OMIM:618811 mitochondrial DNA depletion syndrome 18 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching +OMIM:618812 UQCC6 skos:exactMatch UMLS:C2681280 semapv:UnspecifiedMatching +OMIM:618812 UQCC6 skos:exactMatch hgnc.symbol:UQCC6 semapv:UnspecifiedMatching +OMIM:618812 UQCC6 skos:exactMatch ncbigene:728568 semapv:UnspecifiedMatching +OMIM:618813 TTLL7 skos:exactMatch UMLS:C1823542 semapv:UnspecifiedMatching +OMIM:618813 TTLL7 skos:exactMatch hgnc.symbol:26242 semapv:UnspecifiedMatching +OMIM:618813 TTLL7 skos:exactMatch hgnc.symbol:TTLL7 semapv:UnspecifiedMatching +OMIM:618813 TTLL7 skos:exactMatch ncbigene:79739 semapv:UnspecifiedMatching +OMIM:618814 KLRF2 skos:exactMatch UMLS:C3147703 semapv:UnspecifiedMatching +OMIM:618814 KLRF2 skos:exactMatch hgnc.symbol:37646 semapv:UnspecifiedMatching +OMIM:618814 KLRF2 skos:exactMatch hgnc.symbol:KLRF2 semapv:UnspecifiedMatching +OMIM:618814 KLRF2 skos:exactMatch ncbigene:100431172 semapv:UnspecifiedMatching +OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch MONDO:0032933 semapv:UnspecifiedMatching +OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch UMLS:C5394150 semapv:UnspecifiedMatching +OMIM:618816 CDYL2 skos:exactMatch UMLS:C1427863 semapv:UnspecifiedMatching +OMIM:618816 CDYL2 skos:exactMatch hgnc.symbol:23030 semapv:UnspecifiedMatching +OMIM:618816 CDYL2 skos:exactMatch hgnc.symbol:CDYL2 semapv:UnspecifiedMatching +OMIM:618816 CDYL2 skos:exactMatch ncbigene:124359 semapv:UnspecifiedMatching +OMIM:618817 TMEM11 skos:exactMatch UMLS:C1823304 semapv:UnspecifiedMatching +OMIM:618817 TMEM11 skos:exactMatch hgnc.symbol:16823 semapv:UnspecifiedMatching +OMIM:618817 TMEM11 skos:exactMatch hgnc.symbol:TMEM11 semapv:UnspecifiedMatching +OMIM:618817 TMEM11 skos:exactMatch ncbigene:8834 semapv:UnspecifiedMatching +OMIM:618818 HCFC1R1 skos:exactMatch UMLS:C1427406 semapv:UnspecifiedMatching +OMIM:618818 HCFC1R1 skos:exactMatch hgnc.symbol:21198 semapv:UnspecifiedMatching +OMIM:618818 HCFC1R1 skos:exactMatch hgnc.symbol:HCFC1R1 semapv:UnspecifiedMatching +OMIM:618818 HCFC1R1 skos:exactMatch ncbigene:54985 semapv:UnspecifiedMatching +OMIM:618819 PBXIP1 skos:exactMatch UMLS:C1427407 semapv:UnspecifiedMatching +OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:21199 semapv:UnspecifiedMatching +OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:PBXIP1 semapv:UnspecifiedMatching +OMIM:618819 PBXIP1 skos:exactMatch ncbigene:57326 semapv:UnspecifiedMatching +OMIM:618820 genitourinary and/or brain malformation syndrome skos:exactMatch MONDO:0032934 semapv:UnspecifiedMatching +OMIM:618820 genitourinary and/or brain malformation syndrome skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching +OMIM:618821 rhizomelic limb shortening with dysmorphic features skos:exactMatch MONDO:0032935 semapv:UnspecifiedMatching +OMIM:618821 rhizomelic limb shortening with dysmorphic features skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching +OMIM:618822 congenital myopathy 9a skos:exactMatch MONDO:0032936 semapv:UnspecifiedMatching +OMIM:618822 congenital myopathy 9a skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching +OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions skos:exactMatch MONDO:0032937 semapv:UnspecifiedMatching +OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching +OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch MONDO:0032938 semapv:UnspecifiedMatching +OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching +OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching +OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch MONDO:0032939 semapv:UnspecifiedMatching +OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching +OMIM:618826 retinitis pigmentosa 88 skos:exactMatch MONDO:0032940 semapv:UnspecifiedMatching +OMIM:618826 retinitis pigmentosa 88 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:618826 retinitis pigmentosa 88 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching +OMIM:618827 myopia 27, autosomal dominant skos:exactMatch MONDO:0032941 semapv:UnspecifiedMatching +OMIM:618827 myopia 27, autosomal dominant skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching +OMIM:618828 nabais sa-de vries syndrome, iia 1 skos:exactMatch MONDO:0032942 semapv:UnspecifiedMatching +OMIM:618828 nabais sa-de vries syndrome, iia 1 skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching +OMIM:618829 nabais sa-de vries syndrome, iia 2 skos:exactMatch MONDO:0032943 semapv:UnspecifiedMatching +OMIM:618829 nabais sa-de vries syndrome, iia 2 skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching +OMIM:618830 autism, susceptibility to, 20 skos:exactMatch MONDO:0030004 semapv:UnspecifiedMatching +OMIM:618830 autism, susceptibility to, 20 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching +OMIM:618831 TMEM37 skos:exactMatch UMLS:C1540007 semapv:UnspecifiedMatching +OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:18216 semapv:UnspecifiedMatching +OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:TMEM37 semapv:UnspecifiedMatching +OMIM:618831 TMEM37 skos:exactMatch ncbigene:140738 semapv:UnspecifiedMatching +OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay skos:exactMatch MONDO:0030005 semapv:UnspecifiedMatching +OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay skos:exactMatch UMLS:C5394228 semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch UMLS:C1825680 semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:29221 semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:RALGAPB semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch ncbigene:57148 semapv:UnspecifiedMatching +OMIM:618834 LAMTOR4 skos:exactMatch UMLS:C3541686 semapv:UnspecifiedMatching +OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:33772 semapv:UnspecifiedMatching +OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:LAMTOR4 semapv:UnspecifiedMatching +OMIM:618834 LAMTOR4 skos:exactMatch ncbigene:389541 semapv:UnspecifiedMatching +OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch MONDO:0030006 semapv:UnspecifiedMatching +OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch Orphanet:570491 semapv:UnspecifiedMatching +OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching +OMIM:618836 RALGAPA2 skos:exactMatch UMLS:C1424084 semapv:UnspecifiedMatching +OMIM:618836 RALGAPA2 skos:exactMatch hgnc.symbol:16207 semapv:UnspecifiedMatching +OMIM:618836 RALGAPA2 skos:exactMatch hgnc.symbol:RALGAPA2 semapv:UnspecifiedMatching +OMIM:618836 RALGAPA2 skos:exactMatch ncbigene:57186 semapv:UnspecifiedMatching +OMIM:618837 LAPTM4A skos:exactMatch UMLS:C1417056 semapv:UnspecifiedMatching +OMIM:618837 LAPTM4A skos:exactMatch hgnc.symbol:6924 semapv:UnspecifiedMatching +OMIM:618837 LAPTM4A skos:exactMatch hgnc.symbol:LAPTM4A semapv:UnspecifiedMatching +OMIM:618837 LAPTM4A skos:exactMatch ncbigene:9741 semapv:UnspecifiedMatching +OMIM:618838 combined oxidative phosphorylation deficiency 41 skos:exactMatch MONDO:0030007 semapv:UnspecifiedMatching +OMIM:618838 combined oxidative phosphorylation deficiency 41 skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching +OMIM:618839 combined oxidative phosphorylation deficiency 42 skos:exactMatch MONDO:0030008 semapv:UnspecifiedMatching +OMIM:618839 combined oxidative phosphorylation deficiency 42 skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching +OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch MONDO:0030009 semapv:UnspecifiedMatching +OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching +OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching +OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch MONDO:0030010 semapv:UnspecifiedMatching +OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching +OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch UMLS:C1539675 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:28383 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:HORMAD2 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch ncbigene:150280 semapv:UnspecifiedMatching +OMIM:618843 LAYN skos:exactMatch UMLS:C1825794 semapv:UnspecifiedMatching +OMIM:618843 LAYN skos:exactMatch hgnc.symbol:29471 semapv:UnspecifiedMatching +OMIM:618843 LAYN skos:exactMatch hgnc.symbol:LAYN semapv:UnspecifiedMatching +OMIM:618843 LAYN skos:exactMatch ncbigene:143903 semapv:UnspecifiedMatching +OMIM:618844 L3MBTL3 skos:exactMatch UMLS:C1427866 semapv:UnspecifiedMatching +OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:23035 semapv:UnspecifiedMatching +OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:L3MBTL3 semapv:UnspecifiedMatching +OMIM:618844 L3MBTL3 skos:exactMatch ncbigene:84456 semapv:UnspecifiedMatching +OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch MONDO:0030077 semapv:UnspecifiedMatching +OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching +OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching +OMIM:618846 diets-jongmans syndrome skos:exactMatch MONDO:0030012 semapv:UnspecifiedMatching +OMIM:618846 diets-jongmans syndrome skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching +OMIM:618847 immunodeficiency 66 skos:exactMatch MONDO:0030013 semapv:UnspecifiedMatching +OMIM:618847 immunodeficiency 66 skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching +OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch MONDO:0030014 semapv:UnspecifiedMatching +OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching +OMIM:618849 bone marrow failure syndrome 6 skos:exactMatch MONDO:0030015 semapv:UnspecifiedMatching +OMIM:618849 bone marrow failure syndrome 6 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching +OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch MONDO:0100058 semapv:UnspecifiedMatching +OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching +OMIM:618851 combined oxidative phosphorylation deficiency 43 skos:exactMatch MONDO:0030017 semapv:UnspecifiedMatching +OMIM:618851 combined oxidative phosphorylation deficiency 43 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching +OMIM:618852 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch MONDO:0030018 semapv:UnspecifiedMatching +OMIM:618852 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching +OMIM:618853 anauxetic dysplasia 3 skos:exactMatch MONDO:0030019 semapv:UnspecifiedMatching +OMIM:618853 anauxetic dysplasia 3 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching +OMIM:618853 anauxetic dysplasia 3 skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch UMLS:C1539819 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:26212 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:SPCS3 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch ncbigene:60559 semapv:UnspecifiedMatching +OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch MONDO:0030020 semapv:UnspecifiedMatching +OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch Orphanet:166105 semapv:UnspecifiedMatching +OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching +OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch MONDO:0030087 semapv:UnspecifiedMatching +OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching +OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching +OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch UMLS:C5394597 semapv:UnspecifiedMatching +OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch MONDO:0030088 semapv:UnspecifiedMatching +OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching +OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching +OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch UMLS:C5394304 semapv:UnspecifiedMatching +OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch MONDO:0030089 semapv:UnspecifiedMatching +OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching +OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching +OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch MONDO:0030024 semapv:UnspecifiedMatching +OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch UMLS:C5394311 semapv:UnspecifiedMatching +OMIM:618860 C1ORF87 skos:exactMatch UMLS:C1823707 semapv:UnspecifiedMatching +OMIM:618860 C1ORF87 skos:exactMatch hgnc.symbol:28547 semapv:UnspecifiedMatching +OMIM:618860 C1ORF87 skos:exactMatch hgnc.symbol:C1orf87 semapv:UnspecifiedMatching +OMIM:618860 C1ORF87 skos:exactMatch ncbigene:127795 semapv:UnspecifiedMatching +OMIM:618861 IGLON5 skos:exactMatch UMLS:C2681611 semapv:UnspecifiedMatching +OMIM:618861 IGLON5 skos:exactMatch hgnc.symbol:34550 semapv:UnspecifiedMatching +OMIM:618861 IGLON5 skos:exactMatch hgnc.symbol:IGLON5 semapv:UnspecifiedMatching +OMIM:618861 IGLON5 skos:exactMatch ncbigene:402665 semapv:UnspecifiedMatching +OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch MONDO:0030025 semapv:UnspecifiedMatching +OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching +OMIM:618863 retinal dystrophy with leukodystrophy skos:exactMatch MONDO:0030026 semapv:UnspecifiedMatching +OMIM:618863 retinal dystrophy with leukodystrophy skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching +OMIM:618864 C19ORF48P skos:exactMatch UMLS:C1824489 semapv:UnspecifiedMatching +OMIM:618864 C19ORF48P skos:exactMatch hgnc.symbol:C19orf48P semapv:UnspecifiedMatching +OMIM:618864 C19ORF48P skos:exactMatch ncbigene:84798 semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch UMLS:C3469888 semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:21638 semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:CEP85L semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch ncbigene:387119 semapv:UnspecifiedMatching +OMIM:618866 tremor, hereditary essential, 6 skos:exactMatch MONDO:0030027 semapv:UnspecifiedMatching +OMIM:618866 tremor, hereditary essential, 6 skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch UMLS:C1423669 semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch hgnc.symbol:15703 semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch hgnc.symbol:RHOF semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch ncbigene:54509 semapv:UnspecifiedMatching +OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch MONDO:0030028 semapv:UnspecifiedMatching +OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch UMLS:C1427625 semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:21578 semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:RNF144B semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch ncbigene:255488 semapv:UnspecifiedMatching +OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch MONDO:0030029 semapv:UnspecifiedMatching +OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching +OMIM:618871 ARHGEF16 skos:exactMatch UMLS:C1423545 semapv:UnspecifiedMatching +OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:15515 semapv:UnspecifiedMatching +OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:ARHGEF16 semapv:UnspecifiedMatching +OMIM:618871 ARHGEF16 skos:exactMatch ncbigene:27237 semapv:UnspecifiedMatching +OMIM:618872 nizon-isidor syndrome skos:exactMatch MONDO:0030030 semapv:UnspecifiedMatching +OMIM:618872 nizon-isidor syndrome skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching +OMIM:618873 lissencephaly 10 skos:exactMatch MONDO:0030031 semapv:UnspecifiedMatching +OMIM:618873 lissencephaly 10 skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching +OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch MONDO:0015350 semapv:UnspecifiedMatching +OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch Orphanet:139474 semapv:UnspecifiedMatching +OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch UMLS:C3495679 semapv:UnspecifiedMatching +OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch MONDO:0030033 semapv:UnspecifiedMatching +OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching +OMIM:618876 epilepsy, progressive myoclonic, 11 skos:exactMatch MONDO:0030034 semapv:UnspecifiedMatching +OMIM:618876 epilepsy, progressive myoclonic, 11 skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching +OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch MONDO:0030035 semapv:UnspecifiedMatching +OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching +OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch MONDO:0030036 semapv:UnspecifiedMatching +OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching +OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch MONDO:0030037 semapv:UnspecifiedMatching +OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching +OMIM:618880 glaucoma, primary closed-angle skos:exactMatch MONDO:0030038 semapv:UnspecifiedMatching +OMIM:618880 glaucoma, primary closed-angle skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching +OMIM:618881 galactosemia 4 skos:exactMatch MONDO:0030105 semapv:UnspecifiedMatching +OMIM:618881 galactosemia 4 skos:exactMatch Orphanet:570422 semapv:UnspecifiedMatching +OMIM:618881 galactosemia 4 skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching +OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch MONDO:0100157 semapv:UnspecifiedMatching +OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching +OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching +OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch MONDO:0020798 semapv:UnspecifiedMatching +OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching +OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching +OMIM:618884 proteinuria, chronic benign skos:exactMatch MONDO:0030042 semapv:UnspecifiedMatching +OMIM:618884 proteinuria, chronic benign skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching +OMIM:618885 congenital disorder of glycosylation, iia iit skos:exactMatch MONDO:0030043 semapv:UnspecifiedMatching +OMIM:618885 congenital disorder of glycosylation, iia iit skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching +OMIM:618886 pseudo-torch syndrome 3 skos:exactMatch MONDO:0030044 semapv:UnspecifiedMatching +OMIM:618886 pseudo-torch syndrome 3 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch UMLS:C2681901 semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:15671 semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:NFKBID semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch ncbigene:84807 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch UMLS:C1423799 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:15878 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:CASS4 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch ncbigene:57091 semapv:UnspecifiedMatching +OMIM:618889 liberfarb syndrome skos:exactMatch MONDO:0030045 semapv:UnspecifiedMatching +OMIM:618889 liberfarb syndrome skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching +OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch MONDO:0030046 semapv:UnspecifiedMatching +OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch UMLS:C5394423 semapv:UnspecifiedMatching +OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch MONDO:0030047 semapv:UnspecifiedMatching +OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching +OMIM:618892 harderoporphyria skos:exactMatch MONDO:0030048 semapv:UnspecifiedMatching +OMIM:618892 harderoporphyria skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching +OMIM:618893 NOL4L skos:exactMatch UMLS:C1423987 semapv:UnspecifiedMatching +OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:16106 semapv:UnspecifiedMatching +OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:NOL4L semapv:UnspecifiedMatching +OMIM:618893 NOL4L skos:exactMatch ncbigene:140688 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch UMLS:C1424062 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:16185 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:ROMO1 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch ncbigene:140823 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch UMLS:C1824482 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:28518 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:IZUMO2 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch ncbigene:126123 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch UMLS:C1538360 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:31421 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:IZUMO3 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch ncbigene:100129669 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch UMLS:C3147678 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:26950 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:IZUMO4 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch ncbigene:113177 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch UMLS:C1824546 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:25309 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:CEP85 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch ncbigene:64793 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch UMLS:C1428881 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:29623 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:MAN2B2 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch ncbigene:23324 semapv:UnspecifiedMatching +OMIM:618900 ZCWPW1 skos:exactMatch UMLS:C1428099 semapv:UnspecifiedMatching +OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:23486 semapv:UnspecifiedMatching +OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:ZCWPW1 semapv:UnspecifiedMatching +OMIM:618900 ZCWPW1 skos:exactMatch ncbigene:55063 semapv:UnspecifiedMatching +OMIM:618901 46,xx sex reversal 5 skos:exactMatch MONDO:0030049 semapv:UnspecifiedMatching +OMIM:618901 46,xx sex reversal 5 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:25755 semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:METTL2A semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch ncbigene:339175 semapv:UnspecifiedMatching +OMIM:618903 METTL6 skos:exactMatch UMLS:C1825975 semapv:UnspecifiedMatching +OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:28343 semapv:UnspecifiedMatching +OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:METTL6 semapv:UnspecifiedMatching +OMIM:618903 METTL6 skos:exactMatch ncbigene:131965 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch UMLS:C1539217 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:25536 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:DALRD3 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch ncbigene:55152 semapv:UnspecifiedMatching +OMIM:618905 silver-russell syndrome 2 skos:exactMatch MONDO:0030116 semapv:UnspecifiedMatching +OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5394446 semapv:UnspecifiedMatching +OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5400127 semapv:UnspecifiedMatching +OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch MONDO:0030051 semapv:UnspecifiedMatching +OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch UMLS:C5394447 semapv:UnspecifiedMatching +OMIM:618907 silver-russell syndrome 4 skos:exactMatch MONDO:0030118 semapv:UnspecifiedMatching +OMIM:618907 silver-russell syndrome 4 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +OMIM:618907 silver-russell syndrome 4 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching +OMIM:618908 silver-russell syndrome 5 skos:exactMatch MONDO:0020795 semapv:UnspecifiedMatching +OMIM:618908 silver-russell syndrome 5 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +OMIM:618908 silver-russell syndrome 5 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch UMLS:C1423578 semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:15566 semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:ILKAP semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch ncbigene:80895 semapv:UnspecifiedMatching +OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch MONDO:0030054 semapv:UnspecifiedMatching +OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching +OMIM:618911 C16ORF92 skos:exactMatch UMLS:C2681297 semapv:UnspecifiedMatching +OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:26346 semapv:UnspecifiedMatching +OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:C16orf92 semapv:UnspecifiedMatching +OMIM:618911 C16ORF92 skos:exactMatch ncbigene:146378 semapv:UnspecifiedMatching +OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch MONDO:0030055 semapv:UnspecifiedMatching +OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching +OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch MONDO:0030056 semapv:UnspecifiedMatching +OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching +OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching +OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch MONDO:0030057 semapv:UnspecifiedMatching +OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching +OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch MONDO:0030058 semapv:UnspecifiedMatching +OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching +OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch MONDO:0030059 semapv:UnspecifiedMatching +OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching +OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch MONDO:0030060 semapv:UnspecifiedMatching +OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching +OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch MONDO:0030061 semapv:UnspecifiedMatching +OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching +OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch UMLS:C1537491 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:29252 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:KLHL42 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch ncbigene:57542 semapv:UnspecifiedMatching +OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch MONDO:0030062 semapv:UnspecifiedMatching +OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching +OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching +OMIM:618921 LACTB2 skos:exactMatch UMLS:C1425568 semapv:UnspecifiedMatching +OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:18512 semapv:UnspecifiedMatching +OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:LACTB2 semapv:UnspecifiedMatching +OMIM:618921 LACTB2 skos:exactMatch ncbigene:51110 semapv:UnspecifiedMatching +OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch MONDO:0030063 semapv:UnspecifiedMatching +OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch UMLS:C2681462 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:34524 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:FABP12 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch ncbigene:646486 semapv:UnspecifiedMatching +OMIM:618924 episodic ataxia, iia 9 skos:exactMatch MONDO:0030064 semapv:UnspecifiedMatching +OMIM:618924 episodic ataxia, iia 9 skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch UMLS:C1539606 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:30057 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:GPR171 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch ncbigene:29909 semapv:UnspecifiedMatching +OMIM:618926 OMD skos:exactMatch UMLS:C1417948 semapv:UnspecifiedMatching +OMIM:618926 OMD skos:exactMatch hgnc.symbol:8134 semapv:UnspecifiedMatching +OMIM:618926 OMD skos:exactMatch hgnc.symbol:OMD semapv:UnspecifiedMatching +OMIM:618926 OMD skos:exactMatch ncbigene:4958 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch UMLS:C2239642 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:33902 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:KRTAP24-1 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch ncbigene:643803 semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch UMLS:C1537556 semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:28335 semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:LDHAL6A semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch ncbigene:160287 semapv:UnspecifiedMatching +OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch MONDO:0030065 semapv:UnspecifiedMatching +OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch UMLS:C1538281 semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:23644 semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:ANKRD18B semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch ncbigene:441459 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch UMLS:C1824076 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:29271 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:ZNFX1 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch ncbigene:57169 semapv:UnspecifiedMatching +OMIM:618932 OST4 skos:exactMatch UMLS:C2829972 semapv:UnspecifiedMatching +OMIM:618932 OST4 skos:exactMatch hgnc.symbol:32483 semapv:UnspecifiedMatching +OMIM:618932 OST4 skos:exactMatch hgnc.symbol:OST4 semapv:UnspecifiedMatching +OMIM:618932 OST4 skos:exactMatch ncbigene:100128731 semapv:UnspecifiedMatching +OMIM:618933 SH3RF3 skos:exactMatch UMLS:C1428402 semapv:UnspecifiedMatching +OMIM:618933 SH3RF3 skos:exactMatch hgnc.symbol:24699 semapv:UnspecifiedMatching +OMIM:618933 SH3RF3 skos:exactMatch hgnc.symbol:SH3RF3 semapv:UnspecifiedMatching +OMIM:618933 SH3RF3 skos:exactMatch ncbigene:344558 semapv:UnspecifiedMatching +OMIM:618934 CCSER1 skos:exactMatch UMLS:C2829370 semapv:UnspecifiedMatching +OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:29349 semapv:UnspecifiedMatching +OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:CCSER1 semapv:UnspecifiedMatching +OMIM:618934 CCSER1 skos:exactMatch ncbigene:401145 semapv:UnspecifiedMatching +OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch MONDO:0030066 semapv:UnspecifiedMatching +OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch UMLS:C3469867 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:16158 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:SPATA25 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch ncbigene:128497 semapv:UnspecifiedMatching +OMIM:618937 PPP1R35 skos:exactMatch UMLS:C3471437 semapv:UnspecifiedMatching +OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:28320 semapv:UnspecifiedMatching +OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:PPP1R35 semapv:UnspecifiedMatching +OMIM:618937 PPP1R35 skos:exactMatch ncbigene:221908 semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch UMLS:C5240280 semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch hgnc.symbol:54143 semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch hgnc.symbol:LASTR semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch ncbigene:105376382 semapv:UnspecifiedMatching +OMIM:618939 treacher collins syndrome 4 skos:exactMatch MONDO:0030067 semapv:UnspecifiedMatching +OMIM:618939 treacher collins syndrome 4 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching +OMIM:618939 treacher collins syndrome 4 skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching +OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch MONDO:0030134 semapv:UnspecifiedMatching +OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching +OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch UMLS:C1824556 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:28295 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:CCDC32 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch ncbigene:90416 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch UMLS:C4320409 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch UMLS:C5394549 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:49576 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:IQANK1 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch ncbigene:642574 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch UMLS:C1822912 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:20159 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:SNORD8 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch ncbigene:319103 semapv:UnspecifiedMatching +OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections skos:exactMatch MONDO:0030069 semapv:UnspecifiedMatching +OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching +OMIM:618945 SPACA6 skos:exactMatch UMLS:C2681867 semapv:UnspecifiedMatching +OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:27113 semapv:UnspecifiedMatching +OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:SPACA6 semapv:UnspecifiedMatching +OMIM:618945 SPACA6 skos:exactMatch ncbigene:147650 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch UMLS:C1427740 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:21750 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:LLCFC1 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch ncbigene:135927 semapv:UnspecifiedMatching +OMIM:618947 arthrogryposis multiplex congenita 5 skos:exactMatch MONDO:0100218 semapv:UnspecifiedMatching +OMIM:618947 arthrogryposis multiplex congenita 5 skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching +OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch MONDO:0030070 semapv:UnspecifiedMatching +OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching +OMIM:618949 RIMKLA skos:exactMatch UMLS:C1825154 semapv:UnspecifiedMatching +OMIM:618949 RIMKLA skos:exactMatch hgnc.symbol:28725 semapv:UnspecifiedMatching +OMIM:618949 RIMKLA skos:exactMatch hgnc.symbol:RIMKLA semapv:UnspecifiedMatching +OMIM:618949 RIMKLA skos:exactMatch ncbigene:284716 semapv:UnspecifiedMatching +OMIM:618950 suleiman-el-hattab syndrome skos:exactMatch MONDO:0033532 semapv:UnspecifiedMatching +OMIM:618950 suleiman-el-hattab syndrome skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching +OMIM:618951 combined oxidative phosphorylation deficiency 45 skos:exactMatch MONDO:0033533 semapv:UnspecifiedMatching +OMIM:618951 combined oxidative phosphorylation deficiency 45 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching +OMIM:618952 combined oxidative phosphorylation deficiency 46 skos:exactMatch MONDO:0033534 semapv:UnspecifiedMatching +OMIM:618952 combined oxidative phosphorylation deficiency 46 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch UMLS:C1539214 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:20583 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:CYP4Z1 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch ncbigene:199974 semapv:UnspecifiedMatching +OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch UMLS:C2681396 semapv:UnspecifiedMatching +OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:24426 semapv:UnspecifiedMatching +OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:CYP4Z2P semapv:UnspecifiedMatching +OMIM:618955 retinitis pigmentosa 89 skos:exactMatch MONDO:0030071 semapv:UnspecifiedMatching +OMIM:618955 retinitis pigmentosa 89 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:618955 retinitis pigmentosa 89 skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching +OMIM:618956 RHEBL1 skos:exactMatch UMLS:C1419384 semapv:UnspecifiedMatching +OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:21166 semapv:UnspecifiedMatching +OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:RHEBL1 semapv:UnspecifiedMatching +OMIM:618956 RHEBL1 skos:exactMatch ncbigene:121268 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch UMLS:C1428472 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:25310 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:ANKRD27 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch ncbigene:84079 semapv:UnspecifiedMatching +OMIM:618958 combined oxidative phosphorylation deficiency 47 skos:exactMatch MONDO:0033537 semapv:UnspecifiedMatching +OMIM:618958 combined oxidative phosphorylation deficiency 47 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching +OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch MONDO:0030072 semapv:UnspecifiedMatching +OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching +OMIM:618960 mitchell syndrome skos:exactMatch MONDO:0030073 semapv:UnspecifiedMatching +OMIM:618960 mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching +OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch MONDO:0030074 semapv:UnspecifiedMatching +OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch Orphanet:589435 semapv:UnspecifiedMatching +OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch UMLS:C1538556 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:29970 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:OVCH2 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch ncbigene:341277 semapv:UnspecifiedMatching +OMIM:618963 immunodeficiency 69 skos:exactMatch MONDO:0033541 semapv:UnspecifiedMatching +OMIM:618963 immunodeficiency 69 skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch UMLS:C1826834 semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:25850 semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:RMND5A semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch ncbigene:64795 semapv:UnspecifiedMatching +OMIM:618965 TM9SF1 skos:exactMatch UMLS:C1420772 semapv:UnspecifiedMatching +OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:11864 semapv:UnspecifiedMatching +OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:TM9SF1 semapv:UnspecifiedMatching +OMIM:618965 TM9SF1 skos:exactMatch ncbigene:10548 semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch UMLS:C1823425 semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:26020 semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:TMEM161A semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch ncbigene:54929 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch UMLS:C1412095 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:72 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:ABCF3 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch ncbigene:55324 semapv:UnspecifiedMatching +OMIM:618968 C1ORF146 skos:exactMatch UMLS:C1823765 semapv:UnspecifiedMatching +OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:24032 semapv:UnspecifiedMatching +OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:C1orf146 semapv:UnspecifiedMatching +OMIM:618968 C1ORF146 skos:exactMatch ncbigene:388649 semapv:UnspecifiedMatching +OMIM:618969 immunodeficiency 70 skos:exactMatch MONDO:0033542 semapv:UnspecifiedMatching +OMIM:618969 immunodeficiency 70 skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching +OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch MONDO:0033543 semapv:UnspecifiedMatching +OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching +OMIM:618971 tolchin-le caignec syndrome skos:exactMatch MONDO:0033544 semapv:UnspecifiedMatching +OMIM:618971 tolchin-le caignec syndrome skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching +OMIM:618972 mitochondrial DNA depletion syndrome 19 skos:exactMatch MONDO:0033545 semapv:UnspecifiedMatching +OMIM:618972 mitochondrial DNA depletion syndrome 19 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching +OMIM:618973 sodium-dependent multivitamin transporter deficiency skos:exactMatch MONDO:0033546 semapv:UnspecifiedMatching +OMIM:618973 sodium-dependent multivitamin transporter deficiency skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching +OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch MONDO:0033547 semapv:UnspecifiedMatching +OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching +OMIM:618975 congenital myopathy 17 skos:exactMatch MONDO:0033548 semapv:UnspecifiedMatching +OMIM:618975 congenital myopathy 17 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching +OMIM:618976 MYOSLID skos:exactMatch UMLS:C4320587 semapv:UnspecifiedMatching +OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:51821 semapv:UnspecifiedMatching +OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:MYOSLID semapv:UnspecifiedMatching +OMIM:618976 MYOSLID skos:exactMatch ncbigene:105373853 semapv:UnspecifiedMatching +OMIM:618977 optic atrophy 12 skos:exactMatch MONDO:0033549 semapv:UnspecifiedMatching +OMIM:618977 optic atrophy 12 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching +OMIM:618977 optic atrophy 12 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch UMLS:C1823428 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:25380 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:TMEM163 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch ncbigene:81615 semapv:UnspecifiedMatching +OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch MONDO:0033550 semapv:UnspecifiedMatching +OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch UMLS:C3888126 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch UMLS:C1824570 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:28514 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:CEP112 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch ncbigene:201134 semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch UMLS:C2240311 semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:24641 semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:VPS35L semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch ncbigene:57020 semapv:UnspecifiedMatching +OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation skos:exactMatch MONDO:0033551 semapv:UnspecifiedMatching +OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching +OMIM:618983 blood group, lewis system skos:exactMatch MONDO:0033552 semapv:UnspecifiedMatching +OMIM:618983 blood group, lewis system skos:exactMatch UMLS:C0023595 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch UMLS:C1539898 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:22429 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:SUN3 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch ncbigene:256979 semapv:UnspecifiedMatching +OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch MONDO:0100219 semapv:UnspecifiedMatching +OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching +OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch MONDO:0033554 semapv:UnspecifiedMatching +OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching +OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch MONDO:0033555 semapv:UnspecifiedMatching +OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching +OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch UMLS:C2239304 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch UMLS:C5436937 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:33939 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:CLRN2 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch ncbigene:645104 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch UMLS:C1823380 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:27884 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:TMEM119 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch ncbigene:338773 semapv:UnspecifiedMatching +OMIM:618990 EVA1A skos:exactMatch UMLS:C1823431 semapv:UnspecifiedMatching +OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:25816 semapv:UnspecifiedMatching +OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:EVA1A semapv:UnspecifiedMatching +OMIM:618990 EVA1A skos:exactMatch ncbigene:84141 semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch UMLS:C1419953 semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:10735 semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:SEMA4G semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch ncbigene:57715 semapv:UnspecifiedMatching +OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 skos:exactMatch MONDO:0033556 semapv:UnspecifiedMatching +OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch UMLS:C2239896 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:25420 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:RNF208 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch ncbigene:727800 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch UMLS:C1825370 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch hgnc.symbol:28242 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch hgnc.symbol:HPDL semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch ncbigene:84842 semapv:UnspecifiedMatching +OMIM:618995 BPESC1 skos:exactMatch UMLS:C1421889 semapv:UnspecifiedMatching +OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:13228 semapv:UnspecifiedMatching +OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:BPESC1 semapv:UnspecifiedMatching +OMIM:618995 BPESC1 skos:exactMatch ncbigene:60467 semapv:UnspecifiedMatching +OMIM:618996 LRRC3B skos:exactMatch UMLS:C1537593 semapv:UnspecifiedMatching +OMIM:618996 LRRC3B skos:exactMatch hgnc.symbol:28105 semapv:UnspecifiedMatching +OMIM:618996 LRRC3B skos:exactMatch hgnc.symbol:LRRC3B semapv:UnspecifiedMatching +OMIM:618996 LRRC3B skos:exactMatch ncbigene:116135 semapv:UnspecifiedMatching +OMIM:618997 CDADC1 skos:exactMatch UMLS:C1426841 semapv:UnspecifiedMatching +OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:20299 semapv:UnspecifiedMatching +OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:CDADC1 semapv:UnspecifiedMatching +OMIM:618997 CDADC1 skos:exactMatch ncbigene:81602 semapv:UnspecifiedMatching +OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch MONDO:0033557 semapv:UnspecifiedMatching +OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching +OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch MONDO:0033558 semapv:UnspecifiedMatching +OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching +OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch MONDO:0033559 semapv:UnspecifiedMatching +OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching +OMIM:619001 ANGEL2 skos:exactMatch UMLS:C1823660 semapv:UnspecifiedMatching +OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:30534 semapv:UnspecifiedMatching +OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:ANGEL2 semapv:UnspecifiedMatching +OMIM:619001 ANGEL2 skos:exactMatch ncbigene:90806 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch UMLS:C1537598 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:23199 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:LRRC18 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch ncbigene:474354 semapv:UnspecifiedMatching +OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 skos:exactMatch MONDO:0033560 semapv:UnspecifiedMatching +OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching +OMIM:619004 deeah syndrome skos:exactMatch MONDO:0033561 semapv:UnspecifiedMatching +OMIM:619004 deeah syndrome skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching +OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch MONDO:0033562 semapv:UnspecifiedMatching +OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch UMLS:C1423926 semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch hgnc.symbol:16034 semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch hgnc.symbol:BIVM semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch ncbigene:54841 semapv:UnspecifiedMatching +OMIM:619007 retinitis pigmentosa 90 skos:exactMatch MONDO:0033563 semapv:UnspecifiedMatching +OMIM:619007 retinitis pigmentosa 90 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +OMIM:619007 retinitis pigmentosa 90 skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching +OMIM:619008 LINC00598 skos:exactMatch UMLS:C1427631 semapv:UnspecifiedMatching +OMIM:619008 LINC00598 skos:exactMatch hgnc.symbol:42770 semapv:UnspecifiedMatching +OMIM:619008 LINC00598 skos:exactMatch hgnc.symbol:LINC00598 semapv:UnspecifiedMatching +OMIM:619008 LINC00598 skos:exactMatch ncbigene:646982 semapv:UnspecifiedMatching +OMIM:619009 oocyte/zygote/embryo maturation arrest 8 skos:exactMatch MONDO:0033564 semapv:UnspecifiedMatching +OMIM:619009 oocyte/zygote/embryo maturation arrest 8 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching +OMIM:619010 ATXN7L3 skos:exactMatch UMLS:C1538306 semapv:UnspecifiedMatching +OMIM:619010 ATXN7L3 skos:exactMatch hgnc.symbol:25416 semapv:UnspecifiedMatching +OMIM:619010 ATXN7L3 skos:exactMatch hgnc.symbol:ATXN7L3 semapv:UnspecifiedMatching +OMIM:619010 ATXN7L3 skos:exactMatch ncbigene:56970 semapv:UnspecifiedMatching +OMIM:619011 oocyte/zygote/embryo maturation arrest 9 skos:exactMatch MONDO:0033565 semapv:UnspecifiedMatching +OMIM:619011 oocyte/zygote/embryo maturation arrest 9 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching +OMIM:619012 combined oxidative phosphorylation deficiency 48 skos:exactMatch MONDO:0033566 semapv:UnspecifiedMatching +OMIM:619012 combined oxidative phosphorylation deficiency 48 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching +OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch MONDO:0100220 semapv:UnspecifiedMatching +OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching +OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch UMLS:C1426138 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:19274 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:TTC5 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch ncbigene:91875 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch UMLS:C1825055 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:24449 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:ENY2 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch ncbigene:56943 semapv:UnspecifiedMatching +OMIM:619016 ifap syndrome 2 skos:exactMatch MONDO:0100221 semapv:UnspecifiedMatching +OMIM:619016 ifap syndrome 2 skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching +OMIM:619016 ifap syndrome 2 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch UMLS:C1424334 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:16502 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:RHBDL3 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch ncbigene:162494 semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch UMLS:C1537737 semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:31625 semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:MIR30B semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch ncbigene:407030 semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch UMLS:C1537740 semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:31628 semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:MIR30D semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch ncbigene:407033 semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch UMLS:C1537591 semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:25434 semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:LRP2BP semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch ncbigene:55805 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch UMLS:C1538295 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:29593 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:ANKRD37 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch ncbigene:353322 semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch UMLS:C1426714 semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:20130 semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:TMEM229B semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch ncbigene:161145 semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch UMLS:C2678545 semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch hgnc.symbol:24448 semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch hgnc.symbol:OSTC semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch ncbigene:58505 semapv:UnspecifiedMatching +OMIM:619024 combined oxidative phosphorylation deficiency 49 skos:exactMatch MONDO:0033569 semapv:UnspecifiedMatching +OMIM:619024 combined oxidative phosphorylation deficiency 49 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching +OMIM:619025 combined oxidative phosphorylation deficiency 50 skos:exactMatch MONDO:0033570 semapv:UnspecifiedMatching +OMIM:619025 combined oxidative phosphorylation deficiency 50 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching +OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch MONDO:0033613 semapv:UnspecifiedMatching +OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching +OMIM:619027 spastic paraplegia 83, autosomal recessive skos:exactMatch MONDO:0033614 semapv:UnspecifiedMatching +OMIM:619027 spastic paraplegia 83, autosomal recessive skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching +OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch MONDO:0033615 semapv:UnspecifiedMatching +OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching +OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch UMLS:C1428752 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:28942 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:KRTCAP2 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch ncbigene:200185 semapv:UnspecifiedMatching +OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch MONDO:0033571 semapv:UnspecifiedMatching +OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching +OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch MONDO:0033572 semapv:UnspecifiedMatching +OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching +OMIM:619032 RCN3 skos:exactMatch UMLS:C1427360 semapv:UnspecifiedMatching +OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:21145 semapv:UnspecifiedMatching +OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:RCN3 semapv:UnspecifiedMatching +OMIM:619032 RCN3 skos:exactMatch ncbigene:57333 semapv:UnspecifiedMatching +OMIM:619033 vissers-bodmer syndrome skos:exactMatch MONDO:0033618 semapv:UnspecifiedMatching +OMIM:619033 vissers-bodmer syndrome skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch UMLS:C1538819 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:19098 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:RBPMS2 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch ncbigene:348093 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch UMLS:C1537734 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:31620 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:MIR29B2 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch ncbigene:407025 semapv:UnspecifiedMatching +OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch MONDO:0033619 semapv:UnspecifiedMatching +OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching +OMIM:619037 LRRC34 skos:exactMatch UMLS:C1537609 semapv:UnspecifiedMatching +OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:28408 semapv:UnspecifiedMatching +OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:LRRC34 semapv:UnspecifiedMatching +OMIM:619037 LRRC34 skos:exactMatch ncbigene:151827 semapv:UnspecifiedMatching +OMIM:619038 SPOCD1 skos:exactMatch UMLS:C1539846 semapv:UnspecifiedMatching +OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:26338 semapv:UnspecifiedMatching +OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:SPOCD1 semapv:UnspecifiedMatching +OMIM:619038 SPOCD1 skos:exactMatch ncbigene:90853 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch UMLS:C1425179 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:17922 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:REPIN1 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch ncbigene:29803 semapv:UnspecifiedMatching +OMIM:619040 myofibrillar myopathy 10 skos:exactMatch MONDO:0033620 semapv:UnspecifiedMatching +OMIM:619040 myofibrillar myopathy 10 skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching +OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch MONDO:0030801 semapv:UnspecifiedMatching +OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching +OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching +OMIM:619042 spinal muscular atrophy, infantile, james iia skos:exactMatch MONDO:0033621 semapv:UnspecifiedMatching +OMIM:619042 spinal muscular atrophy, infantile, james iia skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch UMLS:C1825614 semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch hgnc.symbol:14645 semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch hgnc.symbol:IPPK semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch ncbigene:64768 semapv:UnspecifiedMatching +OMIM:619044 spermatogenic failure 44 skos:exactMatch MONDO:0033622 semapv:UnspecifiedMatching +OMIM:619044 spermatogenic failure 44 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +OMIM:619044 spermatogenic failure 44 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch UMLS:C1539752 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:29446 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:SERHL2 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch ncbigene:253190 semapv:UnspecifiedMatching +OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch MONDO:0033635 semapv:UnspecifiedMatching +OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching +OMIM:619047 PPP1R32 skos:exactMatch UMLS:C3471436 semapv:UnspecifiedMatching +OMIM:619047 PPP1R32 skos:exactMatch hgnc.symbol:SAXO4 semapv:UnspecifiedMatching +OMIM:619047 PPP1R32 skos:exactMatch ncbigene:220004 semapv:UnspecifiedMatching +OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch MONDO:0033636 semapv:UnspecifiedMatching +OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch UMLS:C1824251 semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch hgnc.symbol:26951 semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch hgnc.symbol:TDRP semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch ncbigene:157695 semapv:UnspecifiedMatching +OMIM:619050 HMGCLL1 skos:exactMatch UMLS:C1427507 semapv:UnspecifiedMatching +OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:21359 semapv:UnspecifiedMatching +OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:HMGCLL1 semapv:UnspecifiedMatching +OMIM:619050 HMGCLL1 skos:exactMatch ncbigene:54511 semapv:UnspecifiedMatching +OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch MONDO:0033637 semapv:UnspecifiedMatching +OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching +OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch MONDO:0033638 semapv:UnspecifiedMatching +OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching +OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch MONDO:0033639 semapv:UnspecifiedMatching +OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching +OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch MONDO:0033645 semapv:UnspecifiedMatching +OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching +OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch MONDO:0033646 semapv:UnspecifiedMatching +OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching +OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch MONDO:0033630 semapv:UnspecifiedMatching +OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching +OMIM:619057 combined oxidative phosphorylation deficiency 51 skos:exactMatch MONDO:0033631 semapv:UnspecifiedMatching +OMIM:619057 combined oxidative phosphorylation deficiency 51 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching +OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch MONDO:0033649 semapv:UnspecifiedMatching +OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching +OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch MONDO:0033650 semapv:UnspecifiedMatching +OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching +OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch MONDO:0033651 semapv:UnspecifiedMatching +OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching +OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch MONDO:0033652 semapv:UnspecifiedMatching +OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching +OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch MONDO:0033653 semapv:UnspecifiedMatching +OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching +OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch MONDO:0033654 semapv:UnspecifiedMatching +OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching +OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch MONDO:0033655 semapv:UnspecifiedMatching +OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching +OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch MONDO:0033656 semapv:UnspecifiedMatching +OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch UMLS:C1429015 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch UMLS:C5436729 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:30940 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:ZNF532 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch ncbigene:55205 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch UMLS:C1537382 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:16475 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:HSDL1 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch ncbigene:83693 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch UMLS:C1428058 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:23379 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:LRRC19 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch ncbigene:64922 semapv:UnspecifiedMatching +OMIM:619069 TENT5B skos:exactMatch UMLS:C1539444 semapv:UnspecifiedMatching +OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:28273 semapv:UnspecifiedMatching +OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:TENT5B semapv:UnspecifiedMatching +OMIM:619069 TENT5B skos:exactMatch ncbigene:115572 semapv:UnspecifiedMatching +OMIM:619070 LETMD1 skos:exactMatch UMLS:C1537567 semapv:UnspecifiedMatching +OMIM:619070 LETMD1 skos:exactMatch hgnc.symbol:24241 semapv:UnspecifiedMatching +OMIM:619070 LETMD1 skos:exactMatch hgnc.symbol:LETMD1 semapv:UnspecifiedMatching +OMIM:619070 LETMD1 skos:exactMatch ncbigene:25875 semapv:UnspecifiedMatching +OMIM:619071 leukodystrophy, hypomyelinating, 20 skos:exactMatch MONDO:0033657 semapv:UnspecifiedMatching +OMIM:619071 leukodystrophy, hypomyelinating, 20 skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching +OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch MONDO:0033658 semapv:UnspecifiedMatching +OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching +OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch MONDO:0033640 semapv:UnspecifiedMatching +OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch Orphanet:93160 semapv:UnspecifiedMatching +OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching +OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch MONDO:0033641 semapv:UnspecifiedMatching +OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching +OMIM:619075 bachmann-bupp syndrome skos:exactMatch MONDO:0033642 semapv:UnspecifiedMatching +OMIM:619075 bachmann-bupp syndrome skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching +OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch MONDO:0033662 semapv:UnspecifiedMatching +OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching +OMIM:619077 HSPA4L skos:exactMatch UMLS:C1537386 semapv:UnspecifiedMatching +OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:17041 semapv:UnspecifiedMatching +OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:HSPA4L semapv:UnspecifiedMatching +OMIM:619077 HSPA4L skos:exactMatch ncbigene:22824 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch UMLS:C1425947 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:19008 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:KLHL11 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch ncbigene:55175 semapv:UnspecifiedMatching +OMIM:619079 inflammatory bowel disease (crohn disease) 30 skos:exactMatch MONDO:0033643 semapv:UnspecifiedMatching +OMIM:619079 inflammatory bowel disease (crohn disease) 30 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching +OMIM:619080 kilquist syndrome skos:exactMatch MONDO:0033664 semapv:UnspecifiedMatching +OMIM:619080 kilquist syndrome skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching +OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch MONDO:0033665 semapv:UnspecifiedMatching +OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching +OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch MONDO:0033644 semapv:UnspecifiedMatching +OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching +OMIM:619083 delpire-mcneill syndrome skos:exactMatch MONDO:0033667 semapv:UnspecifiedMatching +OMIM:619083 delpire-mcneill syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:619083 delpire-mcneill syndrome skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch UMLS:C1425454 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:18334 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:TIGD3 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch ncbigene:220359 semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch UMLS:C5240597 semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:51126 semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:PRANCR semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch ncbigene:101928062 semapv:UnspecifiedMatching +OMIM:619086 deafness, autosomal dominant 79 skos:exactMatch MONDO:0033668 semapv:UnspecifiedMatching +OMIM:619086 deafness, autosomal dominant 79 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching +OMIM:619087 noonan syndrome 13 skos:exactMatch MONDO:0033669 semapv:UnspecifiedMatching +OMIM:619087 noonan syndrome 13 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +OMIM:619087 noonan syndrome 13 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch UMLS:C2240287 semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:33550 semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:NUGGC semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch ncbigene:389643 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch UMLS:C1825352 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:18177 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:GIPC2 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch ncbigene:54810 semapv:UnspecifiedMatching +OMIM:619090 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy skos:exactMatch MONDO:0030835 semapv:UnspecifiedMatching +OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch MONDO:0100348 semapv:UnspecifiedMatching +OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching +OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch MONDO:0030837 semapv:UnspecifiedMatching +OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching +OMIM:619093 deafness, autosomal recessive 116 skos:exactMatch MONDO:0033670 semapv:UnspecifiedMatching +OMIM:619093 deafness, autosomal recessive 116 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching +OMIM:619094 spermatogenic failure 45 skos:exactMatch MONDO:0033671 semapv:UnspecifiedMatching +OMIM:619094 spermatogenic failure 45 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +OMIM:619094 spermatogenic failure 45 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching +OMIM:619095 spermatogenic failure 46 skos:exactMatch MONDO:0033673 semapv:UnspecifiedMatching +OMIM:619095 spermatogenic failure 46 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +OMIM:619095 spermatogenic failure 46 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching +OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch MONDO:0030840 semapv:UnspecifiedMatching +OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching +OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch MONDO:0030841 semapv:UnspecifiedMatching +OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch UMLS:C2240259 semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch hgnc.symbol:25183 semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch hgnc.symbol:M1AP semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch ncbigene:130951 semapv:UnspecifiedMatching +OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch MONDO:0030849 semapv:UnspecifiedMatching +OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching +OMIM:619100 CCDC25 skos:exactMatch UMLS:C1824550 semapv:UnspecifiedMatching +OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:25591 semapv:UnspecifiedMatching +OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:CCDC25 semapv:UnspecifiedMatching +OMIM:619100 CCDC25 skos:exactMatch ncbigene:55246 semapv:UnspecifiedMatching +OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch MONDO:0030843 semapv:UnspecifiedMatching +OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching +OMIM:619102 spermatogenic failure 47 skos:exactMatch MONDO:0030844 semapv:UnspecifiedMatching +OMIM:619102 spermatogenic failure 47 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +OMIM:619102 spermatogenic failure 47 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching +OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch MONDO:0030852 semapv:UnspecifiedMatching +OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch UMLS:C2239875 semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:30358 semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:RBM47 semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch ncbigene:54502 semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch UMLS:C1537741 semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:31629 semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:MIR30E semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch ncbigene:407034 semapv:UnspecifiedMatching +OMIM:619106 PRRT3AS1 skos:exactMatch UMLS:C5436822 semapv:UnspecifiedMatching +OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:41151 semapv:UnspecifiedMatching +OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:PRRT3-AS1 semapv:UnspecifiedMatching +OMIM:619106 PRRT3AS1 skos:exactMatch ncbigene:100874032 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch UMLS:C1822710 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:28468 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:SNX33 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch ncbigene:257364 semapv:UnspecifiedMatching +OMIM:619108 spermatogenic failure 48 skos:exactMatch MONDO:0030846 semapv:UnspecifiedMatching +OMIM:619108 spermatogenic failure 48 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching +OMIM:619108 spermatogenic failure 48 skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch UMLS:C1538126 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:30511 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:YIF1B semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch ncbigene:90522 semapv:UnspecifiedMatching +OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch MONDO:0030847 semapv:UnspecifiedMatching +OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching +OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching +OMIM:619111 coach syndrome 2 skos:exactMatch MONDO:0030859 semapv:UnspecifiedMatching +OMIM:619111 coach syndrome 2 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching +OMIM:619111 coach syndrome 2 skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching +OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch MONDO:0030860 semapv:UnspecifiedMatching +OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching +OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching +OMIM:619113 coach syndrome 3 skos:exactMatch MONDO:0030862 semapv:UnspecifiedMatching +OMIM:619113 coach syndrome 3 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching +OMIM:619113 coach syndrome 3 skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching +OMIM:619114 SMYD5 skos:exactMatch UMLS:C1424131 semapv:UnspecifiedMatching +OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:16258 semapv:UnspecifiedMatching +OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:SMYD5 semapv:UnspecifiedMatching +OMIM:619114 SMYD5 skos:exactMatch ncbigene:10322 semapv:UnspecifiedMatching +OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch MONDO:0030854 semapv:UnspecifiedMatching +OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch UMLS:C1426756 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:20182 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:SLC39A9 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch ncbigene:55334 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch UMLS:C1824216 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:27902 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:ARL16 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch ncbigene:339231 semapv:UnspecifiedMatching +OMIM:619118 ATP13A1 skos:exactMatch UMLS:C1540214 semapv:UnspecifiedMatching +OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:24215 semapv:UnspecifiedMatching +OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:ATP13A1 semapv:UnspecifiedMatching +OMIM:619118 ATP13A1 skos:exactMatch ncbigene:57130 semapv:UnspecifiedMatching +OMIM:619119 ATP13A5 skos:exactMatch UMLS:C1540218 semapv:UnspecifiedMatching +OMIM:619119 ATP13A5 skos:exactMatch hgnc.symbol:31789 semapv:UnspecifiedMatching +OMIM:619119 ATP13A5 skos:exactMatch hgnc.symbol:ATP13A5 semapv:UnspecifiedMatching +OMIM:619119 ATP13A5 skos:exactMatch ncbigene:344905 semapv:UnspecifiedMatching +OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:exactMatch MONDO:0030855 semapv:UnspecifiedMatching +OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching +OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch MONDO:0030866 semapv:UnspecifiedMatching +OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching +OMIM:619122 vertebral hypersegmentation and orofacial anomalies skos:exactMatch MONDO:0030871 semapv:UnspecifiedMatching +OMIM:619122 vertebral hypersegmentation and orofacial anomalies skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching +OMIM:619123 cardiofacioneurodevelopmental syndrome skos:exactMatch MONDO:0030873 semapv:UnspecifiedMatching +OMIM:619123 cardiofacioneurodevelopmental syndrome skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching +OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch MONDO:0030856 semapv:UnspecifiedMatching +OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching +OMIM:619125 kaya-barakat-masson syndrome skos:exactMatch MONDO:0030878 semapv:UnspecifiedMatching +OMIM:619125 kaya-barakat-masson syndrome skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching +OMIM:619126 immunodeficiency 75 with lymphoproliferation skos:exactMatch MONDO:0030858 semapv:UnspecifiedMatching +OMIM:619126 immunodeficiency 75 with lymphoproliferation skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching +OMIM:619127 mandibuloacral dysplasia progeroid syndrome skos:exactMatch MONDO:0030880 semapv:UnspecifiedMatching +OMIM:619127 mandibuloacral dysplasia progeroid syndrome skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching +OMIM:619128 HYI skos:exactMatch UMLS:C1825556 semapv:UnspecifiedMatching +OMIM:619128 HYI skos:exactMatch hgnc.symbol:26948 semapv:UnspecifiedMatching +OMIM:619128 HYI skos:exactMatch hgnc.symbol:HYI semapv:UnspecifiedMatching +OMIM:619128 HYI skos:exactMatch ncbigene:81888 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch UMLS:C1428618 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:26676 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:CFAP58 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch ncbigene:159686 semapv:UnspecifiedMatching +OMIM:619130 thrombocytopenia 7 skos:exactMatch MONDO:0030867 semapv:UnspecifiedMatching +OMIM:619130 thrombocytopenia 7 skos:exactMatch Orphanet:466806 semapv:UnspecifiedMatching +OMIM:619130 thrombocytopenia 7 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching +OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch MONDO:0030861 semapv:UnspecifiedMatching +OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching +OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching +OMIM:619132 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch MONDO:0030872 semapv:UnspecifiedMatching +OMIM:619133 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch MONDO:0030885 semapv:UnspecifiedMatching +OMIM:619134 SMYD4 skos:exactMatch UMLS:C1427288 semapv:UnspecifiedMatching +OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:21067 semapv:UnspecifiedMatching +OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:SMYD4 semapv:UnspecifiedMatching +OMIM:619134 SMYD4 skos:exactMatch ncbigene:114826 semapv:UnspecifiedMatching +OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch MONDO:0030864 semapv:UnspecifiedMatching +OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching +OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching +OMIM:619136 SLC37A2 skos:exactMatch UMLS:C1427053 semapv:UnspecifiedMatching +OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:20644 semapv:UnspecifiedMatching +OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:SLC37A2 semapv:UnspecifiedMatching +OMIM:619136 SLC37A2 skos:exactMatch ncbigene:219855 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch UMLS:C1427059 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:20651 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:SLC37A3 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch ncbigene:84255 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch UMLS:C2239766 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:29850 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:N4BP1 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch ncbigene:9683 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch UMLS:C2239767 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:29851 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:N4BP2 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch ncbigene:55728 semapv:UnspecifiedMatching +OMIM:619140 N4BP3 skos:exactMatch UMLS:C3148457 semapv:UnspecifiedMatching +OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:29852 semapv:UnspecifiedMatching +OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:N4BP3 semapv:UnspecifiedMatching +OMIM:619140 N4BP3 skos:exactMatch ncbigene:23138 semapv:UnspecifiedMatching +OMIM:619141 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch MONDO:0030875 semapv:UnspecifiedMatching +OMIM:619142 cardioacrofacial dysplasia 1 skos:exactMatch MONDO:0030876 semapv:UnspecifiedMatching +OMIM:619142 cardioacrofacial dysplasia 1 skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching +OMIM:619143 cardioacrofacial dysplasia 2 skos:exactMatch MONDO:0030877 semapv:UnspecifiedMatching +OMIM:619143 cardioacrofacial dysplasia 2 skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching +OMIM:619144 spermatogenic failure 49 skos:exactMatch MONDO:0030868 semapv:UnspecifiedMatching +OMIM:619144 spermatogenic failure 49 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +OMIM:619144 spermatogenic failure 49 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching +OMIM:619145 spermatogenic failure 50 skos:exactMatch MONDO:0030869 semapv:UnspecifiedMatching +OMIM:619145 spermatogenic failure 50 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +OMIM:619145 spermatogenic failure 50 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching +OMIM:619146 premature ovarian failure 17 skos:exactMatch MONDO:0030870 semapv:UnspecifiedMatching +OMIM:619146 premature ovarian failure 17 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching +OMIM:619147 leukoencephalopathy, progressive, infantile-onset, with or without deafness skos:exactMatch MONDO:0030893 semapv:UnspecifiedMatching +OMIM:619148 chromosome 13q33-q34 deletion syndrome skos:exactMatch MONDO:0030896 semapv:UnspecifiedMatching +OMIM:619149 lessel-kreienkamp syndrome skos:exactMatch MONDO:0030897 semapv:UnspecifiedMatching +OMIM:619150 intellectual developmental disorder with paroxysmal dyskinesia or seizures skos:exactMatch MONDO:0030900 semapv:UnspecifiedMatching +OMIM:619151 amed syndrome, digenic skos:exactMatch MONDO:0030894 semapv:UnspecifiedMatching +OMIM:619152 TBC1D2B skos:exactMatch hgnc.symbol:29183 semapv:UnspecifiedMatching +OMIM:619152 TBC1D2B skos:exactMatch hgnc.symbol:TBC1D2B semapv:UnspecifiedMatching +OMIM:619152 TBC1D2B skos:exactMatch ncbigene:23102 semapv:UnspecifiedMatching +OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:23323 semapv:UnspecifiedMatching +OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:SLC25A51 semapv:UnspecifiedMatching +OMIM:619153 SLC25A51 skos:exactMatch ncbigene:92014 semapv:UnspecifiedMatching +OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:29207 semapv:UnspecifiedMatching +OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:LRRC47 semapv:UnspecifiedMatching +OMIM:619154 LRRC47 skos:exactMatch ncbigene:57470 semapv:UnspecifiedMatching +OMIM:619155 nephrotic syndrome, iia 22 skos:exactMatch MONDO:0030895 semapv:UnspecifiedMatching +OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:26252 semapv:UnspecifiedMatching +OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:DNAI4 semapv:UnspecifiedMatching +OMIM:619156 DNAI4 skos:exactMatch ncbigene:79819 semapv:UnspecifiedMatching +OMIM:619157 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch MONDO:0030930 semapv:UnspecifiedMatching +OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:24942 semapv:UnspecifiedMatching +OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:PIK3IP1 semapv:UnspecifiedMatching +OMIM:619158 PIK3IP1 skos:exactMatch ncbigene:113791 semapv:UnspecifiedMatching +OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:1816 semapv:UnspecifiedMatching +OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:CEACAM4 semapv:UnspecifiedMatching +OMIM:619159 CEACAM4 skos:exactMatch ncbigene:1089 semapv:UnspecifiedMatching +OMIM:619160 CEACAM7 skos:exactMatch hgnc.symbol:1819 semapv:UnspecifiedMatching +OMIM:619160 CEACAM7 skos:exactMatch hgnc.symbol:CEACAM7 semapv:UnspecifiedMatching +OMIM:619160 CEACAM7 skos:exactMatch ncbigene:1087 semapv:UnspecifiedMatching +OMIM:619161 carpal tunnel syndrome 2 skos:exactMatch MONDO:0030883 semapv:UnspecifiedMatching +OMIM:619162 FOXJ2 skos:exactMatch hgnc.symbol:24818 semapv:UnspecifiedMatching +OMIM:619162 FOXJ2 skos:exactMatch hgnc.symbol:FOXJ2 semapv:UnspecifiedMatching +OMIM:619162 FOXJ2 skos:exactMatch ncbigene:55810 semapv:UnspecifiedMatching +OMIM:619163 RNF130 skos:exactMatch hgnc.symbol:18280 semapv:UnspecifiedMatching +OMIM:619163 RNF130 skos:exactMatch hgnc.symbol:RNF130 semapv:UnspecifiedMatching +OMIM:619163 RNF130 skos:exactMatch ncbigene:55819 semapv:UnspecifiedMatching +OMIM:619164 immunodeficiency 76 skos:exactMatch MONDO:0030898 semapv:UnspecifiedMatching +OMIM:619165 oculocutaneous albinism, iia 8 skos:exactMatch MONDO:0030899 semapv:UnspecifiedMatching +OMIM:619166 mitochondrial complex 2 deficiency, nuclear iia 2 skos:exactMatch MONDO:0030935 semapv:UnspecifiedMatching +OMIM:619167 mitochondrial complex 2 deficiency, nuclear iia 3 skos:exactMatch MONDO:0030937 semapv:UnspecifiedMatching +OMIM:619168 TMEM109 skos:exactMatch hgnc.symbol:28771 semapv:UnspecifiedMatching +OMIM:619168 TMEM109 skos:exactMatch hgnc.symbol:TMEM109 semapv:UnspecifiedMatching +OMIM:619168 TMEM109 skos:exactMatch ncbigene:79073 semapv:UnspecifiedMatching +OMIM:619169 GTPBP4 skos:exactMatch hgnc.symbol:21535 semapv:UnspecifiedMatching +OMIM:619169 GTPBP4 skos:exactMatch hgnc.symbol:GTPBP4 semapv:UnspecifiedMatching +OMIM:619169 GTPBP4 skos:exactMatch ncbigene:23560 semapv:UnspecifiedMatching +OMIM:619170 mitochondrial complex 1 deficiency, nuclear iia 36 skos:exactMatch MONDO:0030902 semapv:UnspecifiedMatching +OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:14237 semapv:UnspecifiedMatching +OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:GUCD1 semapv:UnspecifiedMatching +OMIM:619171 GUCD1 skos:exactMatch ncbigene:83606 semapv:UnspecifiedMatching +OMIM:619172 hermansky-pudlak syndrome 11 skos:exactMatch MONDO:0030903 semapv:UnspecifiedMatching +OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch MONDO:0030947 semapv:UnspecifiedMatching +OMIM:619174 deafness, autosomal recessive 117 skos:exactMatch MONDO:0030905 semapv:UnspecifiedMatching +OMIM:619175 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch MONDO:0030924 semapv:UnspecifiedMatching +OMIM:619176 oocyte/zygote/embryo maturation arrest 10 skos:exactMatch MONDO:0030925 semapv:UnspecifiedMatching +OMIM:619177 spermatogenic failure 51 skos:exactMatch MONDO:0030926 semapv:UnspecifiedMatching +OMIM:619178 myofibrillar myopathy 11 skos:exactMatch MONDO:0030927 semapv:UnspecifiedMatching +OMIM:619179 microcephaly 26, primary, autosomal dominant skos:exactMatch MONDO:0030928 semapv:UnspecifiedMatching +OMIM:619180 microcephaly 27, primary, autosomal dominant skos:exactMatch MONDO:0030929 semapv:UnspecifiedMatching +OMIM:619181 FAM177A1 skos:exactMatch hgnc.symbol:19829 semapv:UnspecifiedMatching +OMIM:619181 FAM177A1 skos:exactMatch hgnc.symbol:FAM177A1 semapv:UnspecifiedMatching +OMIM:619181 FAM177A1 skos:exactMatch ncbigene:283635 semapv:UnspecifiedMatching +OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch MONDO:0017790 semapv:UnspecifiedMatching +OMIM:619183 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch MONDO:0030931 semapv:UnspecifiedMatching +OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch MONDO:0030953 semapv:UnspecifiedMatching +OMIM:619185 joubert syndrome 37 skos:exactMatch MONDO:0030933 semapv:UnspecifiedMatching +OMIM:619186 PLEKHM3 skos:exactMatch hgnc.symbol:34006 semapv:UnspecifiedMatching +OMIM:619186 PLEKHM3 skos:exactMatch hgnc.symbol:PLEKHM3 semapv:UnspecifiedMatching +OMIM:619186 PLEKHM3 skos:exactMatch ncbigene:389072 semapv:UnspecifiedMatching +OMIM:619187 GRIFIN skos:exactMatch hgnc.symbol:4577 semapv:UnspecifiedMatching +OMIM:619187 GRIFIN skos:exactMatch hgnc.symbol:GRIFIN semapv:UnspecifiedMatching +OMIM:619187 GRIFIN skos:exactMatch ncbigene:402635 semapv:UnspecifiedMatching +OMIM:619188 intellectual developmental disorder, autosomal dominant 64 skos:exactMatch MONDO:0030934 semapv:UnspecifiedMatching +OMIM:619189 li-campeau syndrome skos:exactMatch MONDO:0030963 semapv:UnspecifiedMatching +OMIM:619190 IHO1 skos:exactMatch hgnc.symbol:27945 semapv:UnspecifiedMatching +OMIM:619190 IHO1 skos:exactMatch hgnc.symbol:IHO1 semapv:UnspecifiedMatching +OMIM:619190 IHO1 skos:exactMatch ncbigene:339834 semapv:UnspecifiedMatching +OMIM:619191 epilepsy, progressive myoclonic, 12 skos:exactMatch MONDO:0030936 semapv:UnspecifiedMatching +OMIM:619192 SLC7A6OS skos:exactMatch hgnc.symbol:25807 semapv:UnspecifiedMatching +OMIM:619192 SLC7A6OS skos:exactMatch hgnc.symbol:SLC7A6OS semapv:UnspecifiedMatching +OMIM:619192 SLC7A6OS skos:exactMatch ncbigene:84138 semapv:UnspecifiedMatching +OMIM:619193 TTLL8 skos:exactMatch hgnc.symbol:34000 semapv:UnspecifiedMatching +OMIM:619193 TTLL8 skos:exactMatch hgnc.symbol:TTLL8 semapv:UnspecifiedMatching +OMIM:619193 TTLL8 skos:exactMatch ncbigene:164714 semapv:UnspecifiedMatching +OMIM:619194 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch MONDO:0030966 semapv:UnspecifiedMatching +OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:24483 semapv:UnspecifiedMatching +OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:TTLL3 semapv:UnspecifiedMatching +OMIM:619195 TTLL3 skos:exactMatch ncbigene:26140 semapv:UnspecifiedMatching +OMIM:619196 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch MONDO:0030967 semapv:UnspecifiedMatching +OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:18138 semapv:UnspecifiedMatching +OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:EIF3L semapv:UnspecifiedMatching +OMIM:619197 EIF3L skos:exactMatch ncbigene:51386 semapv:UnspecifiedMatching +OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:20957 semapv:UnspecifiedMatching +OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:SDHAF4 semapv:UnspecifiedMatching +OMIM:619198 SDHAF4 skos:exactMatch ncbigene:135154 semapv:UnspecifiedMatching +OMIM:619199 6-phosphogluconate dehydrogenase deficiency skos:exactMatch MONDO:0020457 semapv:UnspecifiedMatching +OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:16154 semapv:UnspecifiedMatching +OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:SNX21 semapv:UnspecifiedMatching +OMIM:619200 SNX21 skos:exactMatch ncbigene:90203 semapv:UnspecifiedMatching +OMIM:619201 nephrotic syndrome, iia 23 skos:exactMatch MONDO:0030962 semapv:UnspecifiedMatching +OMIM:619202 spermatogenic failure 52 skos:exactMatch MONDO:0030938 semapv:UnspecifiedMatching +OMIM:619203 premature ovarian failure 18 skos:exactMatch MONDO:0030939 semapv:UnspecifiedMatching +OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:24328 semapv:UnspecifiedMatching +OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:NIP7 semapv:UnspecifiedMatching +OMIM:619204 NIP7 skos:exactMatch ncbigene:51388 semapv:UnspecifiedMatching +OMIM:619205 GHITM skos:exactMatch hgnc.symbol:17281 semapv:UnspecifiedMatching +OMIM:619205 GHITM skos:exactMatch hgnc.symbol:GHITM semapv:UnspecifiedMatching +OMIM:619205 GHITM skos:exactMatch ncbigene:27069 semapv:UnspecifiedMatching +OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:15678 semapv:UnspecifiedMatching +OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:SCHIP1 semapv:UnspecifiedMatching +OMIM:619206 SCHIP1 skos:exactMatch ncbigene:29970 semapv:UnspecifiedMatching +OMIM:619207 INO80D skos:exactMatch hgnc.symbol:25997 semapv:UnspecifiedMatching +OMIM:619207 INO80D skos:exactMatch hgnc.symbol:INO80D semapv:UnspecifiedMatching +OMIM:619207 INO80D skos:exactMatch ncbigene:54891 semapv:UnspecifiedMatching +OMIM:619208 olmsted syndrome 2 skos:exactMatch MONDO:0030961 semapv:UnspecifiedMatching +OMIM:619209 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch MONDO:0030941 semapv:UnspecifiedMatching +OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:14178 semapv:UnspecifiedMatching +OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:HS3ST6 semapv:UnspecifiedMatching +OMIM:619210 HS3ST6 skos:exactMatch ncbigene:64711 semapv:UnspecifiedMatching +OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:18212 semapv:UnspecifiedMatching +OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:HPCAL4 semapv:UnspecifiedMatching +OMIM:619211 HPCAL4 skos:exactMatch ncbigene:51440 semapv:UnspecifiedMatching +OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:50365 semapv:UnspecifiedMatching +OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:IRAIN semapv:UnspecifiedMatching +OMIM:619212 IRAIN skos:exactMatch ncbigene:104472848 semapv:UnspecifiedMatching +OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:23528 semapv:UnspecifiedMatching +OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:ZSWIM8 semapv:UnspecifiedMatching +OMIM:619213 ZSWIM8 skos:exactMatch ncbigene:23053 semapv:UnspecifiedMatching +OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:30950 semapv:UnspecifiedMatching +OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:ZNF639 semapv:UnspecifiedMatching +OMIM:619214 ZNF639 skos:exactMatch ncbigene:51193 semapv:UnspecifiedMatching +OMIM:619215 oculomotor-abducens synkinesis skos:exactMatch MONDO:0030976 semapv:UnspecifiedMatching +OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch MONDO:0030977 semapv:UnspecifiedMatching +OMIM:619217 endove syndrome, limb-only iia skos:exactMatch MONDO:0030978 semapv:UnspecifiedMatching +OMIM:619218 endove syndrome, limb-brain iia skos:exactMatch MONDO:0030979 semapv:UnspecifiedMatching +OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:26799 semapv:UnspecifiedMatching +OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:C2orf69 semapv:UnspecifiedMatching +OMIM:619219 C2ORF69 skos:exactMatch ncbigene:205327 semapv:UnspecifiedMatching +OMIM:619220 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch MONDO:0030971 semapv:UnspecifiedMatching +OMIM:619221 sulfide:quinone oxidoreductase deficiency skos:exactMatch MONDO:0030982 semapv:UnspecifiedMatching +OMIM:619222 SCAI skos:exactMatch hgnc.symbol:26709 semapv:UnspecifiedMatching +OMIM:619222 SCAI skos:exactMatch hgnc.symbol:SCAI semapv:UnspecifiedMatching +OMIM:619222 SCAI skos:exactMatch ncbigene:286205 semapv:UnspecifiedMatching +OMIM:619223 immunodeficiency 77 skos:exactMatch MONDO:0030973 semapv:UnspecifiedMatching +OMIM:619224 mitochondrial complex 2 deficiency, nuclear iia 4 skos:exactMatch MONDO:0030974 semapv:UnspecifiedMatching +OMIM:619225 RPL13A skos:exactMatch hgnc.symbol:10304 semapv:UnspecifiedMatching +OMIM:619225 RPL13A skos:exactMatch hgnc.symbol:RPL13A semapv:UnspecifiedMatching +OMIM:619225 RPL13A skos:exactMatch ncbigene:23521 semapv:UnspecifiedMatching +OMIM:619226 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch MONDO:0030986 semapv:UnspecifiedMatching +OMIM:619227 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch MONDO:0030987 semapv:UnspecifiedMatching +OMIM:619228 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch MONDO:0030988 semapv:UnspecifiedMatching +OMIM:619229 den hoed-de boer-voisin syndrome skos:exactMatch MONDO:0030990 semapv:UnspecifiedMatching +OMIM:619230 SAP25 skos:exactMatch hgnc.symbol:41908 semapv:UnspecifiedMatching +OMIM:619230 SAP25 skos:exactMatch hgnc.symbol:SAP25 semapv:UnspecifiedMatching +OMIM:619230 SAP25 skos:exactMatch ncbigene:100316904 semapv:UnspecifiedMatching +OMIM:619231 SAMD4B skos:exactMatch hgnc.symbol:25492 semapv:UnspecifiedMatching +OMIM:619231 SAMD4B skos:exactMatch hgnc.symbol:SAMD4B semapv:UnspecifiedMatching +OMIM:619231 SAMD4B skos:exactMatch ncbigene:55095 semapv:UnspecifiedMatching +OMIM:619232 bile acid conjugation defect 1 skos:exactMatch MONDO:0030991 semapv:UnspecifiedMatching +OMIM:619233 SAMD14 skos:exactMatch hgnc.symbol:27312 semapv:UnspecifiedMatching +OMIM:619233 SAMD14 skos:exactMatch hgnc.symbol:SAMD14 semapv:UnspecifiedMatching +OMIM:619233 SAMD14 skos:exactMatch ncbigene:201191 semapv:UnspecifiedMatching +OMIM:619234 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch MONDO:0030992 semapv:UnspecifiedMatching +OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:30361 semapv:UnspecifiedMatching +OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:RPP25 semapv:UnspecifiedMatching +OMIM:619235 RPP25 skos:exactMatch ncbigene:54913 semapv:UnspecifiedMatching +OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:21636 semapv:UnspecifiedMatching +OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:KIAA0408 semapv:UnspecifiedMatching +OMIM:619236 KIAA0408 skos:exactMatch ncbigene:9729 semapv:UnspecifiedMatching +OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:28992 semapv:UnspecifiedMatching +OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:KIAA0232 semapv:UnspecifiedMatching +OMIM:619237 KIAA0232 skos:exactMatch ncbigene:9778 semapv:UnspecifiedMatching +OMIM:619238 immunodeficiency 79 skos:exactMatch MONDO:0030981 semapv:UnspecifiedMatching +OMIM:619239 neurodevelopmental disorder with or without autism or seizures skos:exactMatch MONDO:0030994 semapv:UnspecifiedMatching +OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:34360 semapv:UnspecifiedMatching +OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:GDPGP1 semapv:UnspecifiedMatching +OMIM:619240 GDPGP1 skos:exactMatch ncbigene:390637 semapv:UnspecifiedMatching +OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:14137 semapv:UnspecifiedMatching +OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:JPT2 semapv:UnspecifiedMatching +OMIM:619241 JPT2 skos:exactMatch ncbigene:90861 semapv:UnspecifiedMatching +OMIM:619242 JPT1 skos:exactMatch hgnc.symbol:14569 semapv:UnspecifiedMatching +OMIM:619242 JPT1 skos:exactMatch hgnc.symbol:JPT1 semapv:UnspecifiedMatching +OMIM:619242 JPT1 skos:exactMatch ncbigene:51155 semapv:UnspecifiedMatching +OMIM:619243 global developmental delay with speech and behavioral abnormalities skos:exactMatch MONDO:0030995 semapv:UnspecifiedMatching +OMIM:619244 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch MONDO:0030999 semapv:UnspecifiedMatching +OMIM:619245 premature ovarian failure 19 skos:exactMatch MONDO:0030985 semapv:UnspecifiedMatching +OMIM:619246 SPX skos:exactMatch hgnc.symbol:28139 semapv:UnspecifiedMatching +OMIM:619246 SPX skos:exactMatch hgnc.symbol:SPX semapv:UnspecifiedMatching +OMIM:619246 SPX skos:exactMatch ncbigene:80763 semapv:UnspecifiedMatching +OMIM:619247 SKA3 skos:exactMatch hgnc.symbol:20262 semapv:UnspecifiedMatching +OMIM:619247 SKA3 skos:exactMatch hgnc.symbol:SKA3 semapv:UnspecifiedMatching +OMIM:619247 SKA3 skos:exactMatch ncbigene:221150 semapv:UnspecifiedMatching +OMIM:619248 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch MONDO:0031001 semapv:UnspecifiedMatching +OMIM:619249 CCDC186 skos:exactMatch hgnc.symbol:24349 semapv:UnspecifiedMatching +OMIM:619249 CCDC186 skos:exactMatch hgnc.symbol:CCDC186 semapv:UnspecifiedMatching +OMIM:619249 CCDC186 skos:exactMatch ncbigene:55088 semapv:UnspecifiedMatching +OMIM:619250 RUNDC1 skos:exactMatch hgnc.symbol:25418 semapv:UnspecifiedMatching +OMIM:619250 RUNDC1 skos:exactMatch hgnc.symbol:RUNDC1 semapv:UnspecifiedMatching +OMIM:619250 RUNDC1 skos:exactMatch ncbigene:146923 semapv:UnspecifiedMatching +OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:28494 semapv:UnspecifiedMatching +OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:ACTL9 semapv:UnspecifiedMatching +OMIM:619251 ACTL9 skos:exactMatch ncbigene:284382 semapv:UnspecifiedMatching +OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:18380 semapv:UnspecifiedMatching +OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:BZW1 semapv:UnspecifiedMatching +OMIM:619252 BZW1 skos:exactMatch ncbigene:9689 semapv:UnspecifiedMatching +OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:29117 semapv:UnspecifiedMatching +OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:WSCD2 semapv:UnspecifiedMatching +OMIM:619253 WSCD2 skos:exactMatch ncbigene:9671 semapv:UnspecifiedMatching +OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:12958 semapv:UnspecifiedMatching +OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:ZNF17 semapv:UnspecifiedMatching +OMIM:619254 ZNF17 skos:exactMatch ncbigene:7565 semapv:UnspecifiedMatching +OMIM:619255 baralle-macken syndrome skos:exactMatch MONDO:0031002 semapv:UnspecifiedMatching +OMIM:619256 hypercholanemia, familial, 2 skos:exactMatch MONDO:0031003 semapv:UnspecifiedMatching +OMIM:619257 HRURF skos:exactMatch hgnc.symbol:55085 semapv:UnspecifiedMatching +OMIM:619257 HRURF skos:exactMatch hgnc.symbol:HRURF semapv:UnspecifiedMatching +OMIM:619257 HRURF skos:exactMatch ncbigene:120766137 semapv:UnspecifiedMatching +OMIM:619258 spermatogenic failure 53 skos:exactMatch MONDO:0030989 semapv:UnspecifiedMatching +OMIM:619259 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch MONDO:0031006 semapv:UnspecifiedMatching +OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch MONDO:0031007 semapv:UnspecifiedMatching +OMIM:619261 KRTCAP3 skos:exactMatch hgnc.symbol:28943 semapv:UnspecifiedMatching +OMIM:619261 KRTCAP3 skos:exactMatch hgnc.symbol:KRTCAP3 semapv:UnspecifiedMatching +OMIM:619261 KRTCAP3 skos:exactMatch ncbigene:200634 semapv:UnspecifiedMatching +OMIM:619262 KLHL17 skos:exactMatch hgnc.symbol:24023 semapv:UnspecifiedMatching +OMIM:619262 KLHL17 skos:exactMatch hgnc.symbol:KLHL17 semapv:UnspecifiedMatching +OMIM:619262 KLHL17 skos:exactMatch ncbigene:339451 semapv:UnspecifiedMatching +OMIM:619263 nephrotic syndrome, iia 24 skos:exactMatch MONDO:0031008 semapv:UnspecifiedMatching +OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch MONDO:0031011 semapv:UnspecifiedMatching +OMIM:619265 TRIM52 skos:exactMatch hgnc.symbol:19024 semapv:UnspecifiedMatching +OMIM:619265 TRIM52 skos:exactMatch hgnc.symbol:TRIM52 semapv:UnspecifiedMatching +OMIM:619265 TRIM52 skos:exactMatch ncbigene:84851 semapv:UnspecifiedMatching +OMIM:619266 TRIM52AS1 skos:exactMatch hgnc.symbol:49006 semapv:UnspecifiedMatching +OMIM:619266 TRIM52AS1 skos:exactMatch hgnc.symbol:TRIM52-AS1 semapv:UnspecifiedMatching +OMIM:619266 TRIM52AS1 skos:exactMatch ncbigene:100507602 semapv:UnspecifiedMatching +OMIM:619267 glanzmann thrombasthenia 2 skos:exactMatch MONDO:0031009 semapv:UnspecifiedMatching +OMIM:619268 alzahrani-kuwahara syndrome skos:exactMatch MONDO:0859136 semapv:UnspecifiedMatching +OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch MONDO:0031010 semapv:UnspecifiedMatching +OMIM:619270 IFTAP skos:exactMatch hgnc.symbol:25142 semapv:UnspecifiedMatching +OMIM:619270 IFTAP skos:exactMatch hgnc.symbol:IFTAP semapv:UnspecifiedMatching +OMIM:619270 IFTAP skos:exactMatch ncbigene:119710 semapv:UnspecifiedMatching +OMIM:619271 bleeding disorder, platelet-type, 24 skos:exactMatch MONDO:0030996 semapv:UnspecifiedMatching +OMIM:619272 mitochondrial complex 1 deficiency, nuclear iia 37 skos:exactMatch MONDO:0030997 semapv:UnspecifiedMatching +OMIM:619273 cimdag syndrome skos:exactMatch MONDO:0035819 semapv:UnspecifiedMatching +OMIM:619274 deafness, autosomal dominant 80 skos:exactMatch MONDO:0030998 semapv:UnspecifiedMatching +OMIM:619275 BZW2 skos:exactMatch hgnc.symbol:18808 semapv:UnspecifiedMatching +OMIM:619275 BZW2 skos:exactMatch hgnc.symbol:BZW2 semapv:UnspecifiedMatching +OMIM:619275 BZW2 skos:exactMatch ncbigene:28969 semapv:UnspecifiedMatching +OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:28153 semapv:UnspecifiedMatching +OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:BRME1 semapv:UnspecifiedMatching +OMIM:619276 BRME1 skos:exactMatch ncbigene:79173 semapv:UnspecifiedMatching +OMIM:619277 CIMIP1 skos:exactMatch hgnc.symbol:CIMIP1 semapv:UnspecifiedMatching +OMIM:619277 CIMIP1 skos:exactMatch ncbigene:128602 semapv:UnspecifiedMatching +OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch MONDO:0025690 semapv:UnspecifiedMatching +OMIM:619279 parkinsonism with polyneuropathy skos:exactMatch MONDO:0036193 semapv:UnspecifiedMatching +OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:25005 semapv:UnspecifiedMatching +OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:CCDC59 semapv:UnspecifiedMatching +OMIM:619280 CCDC59 skos:exactMatch ncbigene:29080 semapv:UnspecifiedMatching +OMIM:619281 immunodeficiency 14b, autosomal recessive skos:exactMatch MONDO:0023655 semapv:UnspecifiedMatching +OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:22202 semapv:UnspecifiedMatching +OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:FAM131B semapv:UnspecifiedMatching +OMIM:619282 FAM131B skos:exactMatch ncbigene:9715 semapv:UnspecifiedMatching +OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:19180 semapv:UnspecifiedMatching +OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:RNF44 semapv:UnspecifiedMatching +OMIM:619283 RNF44 skos:exactMatch ncbigene:22838 semapv:UnspecifiedMatching +OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:29189 semapv:UnspecifiedMatching +OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:ZFR2 semapv:UnspecifiedMatching +OMIM:619284 ZFR2 skos:exactMatch ncbigene:23217 semapv:UnspecifiedMatching +OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:27344 semapv:UnspecifiedMatching +OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:TMEM218 semapv:UnspecifiedMatching +OMIM:619285 TMEM218 skos:exactMatch ncbigene:219854 semapv:UnspecifiedMatching +OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia skos:exactMatch MONDO:0859137 semapv:UnspecifiedMatching +OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:27709 semapv:UnspecifiedMatching +OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:CCDC66 semapv:UnspecifiedMatching +OMIM:619287 CCDC66 skos:exactMatch ncbigene:285331 semapv:UnspecifiedMatching +OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:24487 semapv:UnspecifiedMatching +OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:CCDC69 semapv:UnspecifiedMatching +OMIM:619288 CCDC69 skos:exactMatch ncbigene:26112 semapv:UnspecifiedMatching +OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:14983 semapv:UnspecifiedMatching +OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:ZFP91 semapv:UnspecifiedMatching +OMIM:619289 ZFP91 skos:exactMatch ncbigene:80829 semapv:UnspecifiedMatching +OMIM:619290 mahvash disease skos:exactMatch MONDO:0018582 semapv:UnspecifiedMatching +OMIM:619291 dystonia 30 skos:exactMatch MONDO:0025691 semapv:UnspecifiedMatching +OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:13526 semapv:UnspecifiedMatching +OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:VPS9D1 semapv:UnspecifiedMatching +OMIM:619292 VPS9D1 skos:exactMatch ncbigene:9605 semapv:UnspecifiedMatching +OMIM:619293 blepharophimosis-impaired intellectual development syndrome skos:exactMatch MONDO:0859139 semapv:UnspecifiedMatching +OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:16784 semapv:UnspecifiedMatching +OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:NIBAN1 semapv:UnspecifiedMatching +OMIM:619294 NIBAN1 skos:exactMatch ncbigene:116496 semapv:UnspecifiedMatching +OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:20341 semapv:UnspecifiedMatching +OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:ZDHHC14 semapv:UnspecifiedMatching +OMIM:619295 ZDHHC14 skos:exactMatch ncbigene:79683 semapv:UnspecifiedMatching +OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:53788 semapv:UnspecifiedMatching +OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:THORLNC semapv:UnspecifiedMatching +OMIM:619296 THORLNC skos:exactMatch ncbigene:100506797 semapv:UnspecifiedMatching +OMIM:619297 kinsship syndrome skos:exactMatch MONDO:0851095 semapv:UnspecifiedMatching +OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:22213 semapv:UnspecifiedMatching +OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:ZNF777 semapv:UnspecifiedMatching +OMIM:619298 ZNF777 skos:exactMatch ncbigene:27153 semapv:UnspecifiedMatching +OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:29004 semapv:UnspecifiedMatching +OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:ZNF646 semapv:UnspecifiedMatching +OMIM:619299 ZNF646 skos:exactMatch ncbigene:9726 semapv:UnspecifiedMatching +OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:18832 semapv:UnspecifiedMatching +OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:ZNF394 semapv:UnspecifiedMatching +OMIM:619300 ZNF394 skos:exactMatch ncbigene:84124 semapv:UnspecifiedMatching +OMIM:619301 pontocerebellar hypoplasia, iia 14 skos:exactMatch MONDO:0030258 semapv:UnspecifiedMatching +OMIM:619302 pontocerebellar hypoplasia, iia 15 skos:exactMatch MONDO:0030259 semapv:UnspecifiedMatching +OMIM:619303 pontocerebellar hypoplasia, iia 1e skos:exactMatch MONDO:0030260 semapv:UnspecifiedMatching +OMIM:619304 pontocerebellar hypoplasia, iia 1f skos:exactMatch MONDO:0030261 semapv:UnspecifiedMatching +OMIM:619305 TC2N skos:exactMatch hgnc.symbol:19859 semapv:UnspecifiedMatching +OMIM:619305 TC2N skos:exactMatch hgnc.symbol:TC2N semapv:UnspecifiedMatching +OMIM:619305 TC2N skos:exactMatch ncbigene:123036 semapv:UnspecifiedMatching +OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch MONDO:0859141 semapv:UnspecifiedMatching +OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:13785 semapv:UnspecifiedMatching +OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:MRS2 semapv:UnspecifiedMatching +OMIM:619307 MRS2 skos:exactMatch ncbigene:57380 semapv:UnspecifiedMatching +OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:19322 semapv:UnspecifiedMatching +OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:PPM1E semapv:UnspecifiedMatching +OMIM:619308 PPM1E skos:exactMatch ncbigene:22843 semapv:UnspecifiedMatching +OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:19388 semapv:UnspecifiedMatching +OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:PPM1F semapv:UnspecifiedMatching +OMIM:619309 PPM1F skos:exactMatch ncbigene:9647 semapv:UnspecifiedMatching +OMIM:619310 leukodystrophy, hypomyelinating, 21 skos:exactMatch MONDO:0030263 semapv:UnspecifiedMatching +OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome skos:exactMatch MONDO:0859142 semapv:UnspecifiedMatching +OMIM:619312 radio-tartaglia syndrome skos:exactMatch MONDO:0859143 semapv:UnspecifiedMatching +OMIM:619313 immunodeficiency 80 with or without congenital cardiomyopathy skos:exactMatch MONDO:0030266 semapv:UnspecifiedMatching +OMIM:619314 buratti-harel syndrome skos:exactMatch MONDO:0859144 semapv:UnspecifiedMatching +OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:33941 semapv:UnspecifiedMatching +OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:SLC35E2B semapv:UnspecifiedMatching +OMIM:619315 SLC35E2B skos:exactMatch ncbigene:728661 semapv:UnspecifiedMatching +OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:29011 semapv:UnspecifiedMatching +OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:TRANK1 semapv:UnspecifiedMatching +OMIM:619316 TRANK1 skos:exactMatch ncbigene:9881 semapv:UnspecifiedMatching +OMIM:619317 developmental and epileptic encephalopathy 6b skos:exactMatch MONDO:0030268 semapv:UnspecifiedMatching +OMIM:619318 oculogastrointestinal neurodevelopmental syndrome skos:exactMatch MONDO:0036189 semapv:UnspecifiedMatching +OMIM:619319 lymphatic malformation 9 skos:exactMatch MONDO:0030270 semapv:UnspecifiedMatching +OMIM:619320 intellectual developmental disorder, autosomal dominant 65 skos:exactMatch MONDO:0023657 semapv:UnspecifiedMatching +OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies skos:exactMatch MONDO:0859146 semapv:UnspecifiedMatching +OMIM:619322 marbach-rustad progeroid syndrome skos:exactMatch MONDO:0859147 semapv:UnspecifiedMatching +OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch MONDO:0859148 semapv:UnspecifiedMatching +OMIM:619324 hypertriglyceridemia 2 skos:exactMatch MONDO:0859149 semapv:UnspecifiedMatching +OMIM:619325 coffin-siris syndrome 12 skos:exactMatch MONDO:0025699 semapv:UnspecifiedMatching +OMIM:619326 bdv syndrome skos:exactMatch MONDO:0859150 semapv:UnspecifiedMatching +OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:20818 semapv:UnspecifiedMatching +OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:LRRC15 semapv:UnspecifiedMatching +OMIM:619327 LRRC15 skos:exactMatch ncbigene:131578 semapv:UnspecifiedMatching +OMIM:619328 leukodystrophy, hypomyelinating, 22 skos:exactMatch MONDO:0025701 semapv:UnspecifiedMatching +OMIM:619329 fibromuscular dysplasia, multifocal skos:exactMatch MONDO:0859151 semapv:UnspecifiedMatching +OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:28988 semapv:UnspecifiedMatching +OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:TATDN2 semapv:UnspecifiedMatching +OMIM:619330 TATDN2 skos:exactMatch ncbigene:9797 semapv:UnspecifiedMatching +OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:29325 semapv:UnspecifiedMatching +OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:MEAK7 semapv:UnspecifiedMatching +OMIM:619331 MEAK7 skos:exactMatch ncbigene:57707 semapv:UnspecifiedMatching +OMIM:619332 LYSET skos:exactMatch hgnc.symbol:LYSET semapv:UnspecifiedMatching +OMIM:619332 LYSET skos:exactMatch ncbigene:26175 semapv:UnspecifiedMatching +OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch MONDO:0859152 semapv:UnspecifiedMatching +OMIM:619334 arthrogryposis multiplex congenita 6 skos:exactMatch MONDO:0030281 semapv:UnspecifiedMatching +OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:29016 semapv:UnspecifiedMatching +OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:GARRE1 semapv:UnspecifiedMatching +OMIM:619335 GARRE1 skos:exactMatch ncbigene:9710 semapv:UnspecifiedMatching +OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:24812 semapv:UnspecifiedMatching +OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:MTX3 semapv:UnspecifiedMatching +OMIM:619336 MTX3 skos:exactMatch ncbigene:345778 semapv:UnspecifiedMatching +OMIM:619337 NMS skos:exactMatch hgnc.symbol:32203 semapv:UnspecifiedMatching +OMIM:619337 NMS skos:exactMatch hgnc.symbol:NMS semapv:UnspecifiedMatching +OMIM:619337 NMS skos:exactMatch ncbigene:129521 semapv:UnspecifiedMatching +OMIM:619338 cataracts, spastic paraparesis, and speech delay skos:exactMatch MONDO:0036212 semapv:UnspecifiedMatching +OMIM:619339 bartsocas-papas syndrome 2 skos:exactMatch MONDO:0859154 semapv:UnspecifiedMatching +OMIM:619340 developmental and epileptic encephalopathy 96 skos:exactMatch MONDO:0023659 semapv:UnspecifiedMatching +OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:17481 semapv:UnspecifiedMatching +OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:PJA2 semapv:UnspecifiedMatching +OMIM:619341 PJA2 skos:exactMatch ncbigene:9867 semapv:UnspecifiedMatching +OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:17205 semapv:UnspecifiedMatching +OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:PGAP6 semapv:UnspecifiedMatching +OMIM:619342 PGAP6 skos:exactMatch ncbigene:58986 semapv:UnspecifiedMatching +OMIM:619343 chromosome 1p36 deletion syndrome, proximal skos:exactMatch MONDO:0859155 semapv:UnspecifiedMatching +OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:30209 semapv:UnspecifiedMatching +OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:PCP2 semapv:UnspecifiedMatching +OMIM:619344 PCP2 skos:exactMatch ncbigene:126006 semapv:UnspecifiedMatching +OMIM:619345 dysostosis multiplex, ain-naz iia skos:exactMatch MONDO:0859156 semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch hgnc.symbol:31853 semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch hgnc.symbol:ADAL semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching +OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CFAP184 semapv:UnspecifiedMatching +OMIM:619347 CCDC96 skos:exactMatch ncbigene:257236 semapv:UnspecifiedMatching +OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:26812 semapv:UnspecifiedMatching +OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:ANKLE1 semapv:UnspecifiedMatching +OMIM:619348 ANKLE1 skos:exactMatch ncbigene:126549 semapv:UnspecifiedMatching +OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:21314 semapv:UnspecifiedMatching +OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:COPS9 semapv:UnspecifiedMatching +OMIM:619349 COPS9 skos:exactMatch ncbigene:150678 semapv:UnspecifiedMatching +OMIM:619350 visceral myopathy 2 skos:exactMatch MONDO:0859157 semapv:UnspecifiedMatching +OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch MONDO:0025708 semapv:UnspecifiedMatching +OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset skos:exactMatch MONDO:0859158 semapv:UnspecifiedMatching +OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:14446 semapv:UnspecifiedMatching +OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:PARD3B semapv:UnspecifiedMatching +OMIM:619353 PARD3B skos:exactMatch ncbigene:117583 semapv:UnspecifiedMatching +OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy skos:exactMatch MONDO:0859159 semapv:UnspecifiedMatching +OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 skos:exactMatch MONDO:0859160 semapv:UnspecifiedMatching +OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome skos:exactMatch MONDO:0859161 semapv:UnspecifiedMatching +OMIM:619357 AK6 skos:exactMatch hgnc.symbol:49151 semapv:UnspecifiedMatching +OMIM:619357 AK6 skos:exactMatch hgnc.symbol:AK6 semapv:UnspecifiedMatching +OMIM:619357 AK6 skos:exactMatch ncbigene:102157402 semapv:UnspecifiedMatching +OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:20595 semapv:UnspecifiedMatching +OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:MTUS2 semapv:UnspecifiedMatching +OMIM:619358 MTUS2 skos:exactMatch ncbigene:23281 semapv:UnspecifiedMatching +OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:13746 semapv:UnspecifiedMatching +OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:BRINP2 semapv:UnspecifiedMatching +OMIM:619359 BRINP2 skos:exactMatch ncbigene:57795 semapv:UnspecifiedMatching +OMIM:619360 angioedema, hereditary, 4 skos:exactMatch MONDO:0025712 semapv:UnspecifiedMatching +OMIM:619361 angioedema, hereditary, 5 skos:exactMatch MONDO:0030293 semapv:UnspecifiedMatching +OMIM:619362 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:exactMatch MONDO:0030294 semapv:UnspecifiedMatching +OMIM:619363 angioedema, hereditary, 6 skos:exactMatch MONDO:0023660 semapv:UnspecifiedMatching +OMIM:619364 TATDN1 skos:exactMatch hgnc.symbol:24220 semapv:UnspecifiedMatching +OMIM:619364 TATDN1 skos:exactMatch hgnc.symbol:TATDN1 semapv:UnspecifiedMatching +OMIM:619364 TATDN1 skos:exactMatch ncbigene:83940 semapv:UnspecifiedMatching +OMIM:619365 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:exactMatch MONDO:0030296 semapv:UnspecifiedMatching +OMIM:619366 angioedema, hereditary, 7 skos:exactMatch MONDO:0025713 semapv:UnspecifiedMatching +OMIM:619367 angioedema, hereditary, 8 skos:exactMatch MONDO:0030298 semapv:UnspecifiedMatching +OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:20419 semapv:UnspecifiedMatching +OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:LRRC14 semapv:UnspecifiedMatching +OMIM:619368 LRRC14 skos:exactMatch ncbigene:9684 semapv:UnspecifiedMatching +OMIM:619369 lymphatic malformation 10 skos:exactMatch MONDO:0023662 semapv:UnspecifiedMatching +OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:29145 semapv:UnspecifiedMatching +OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:KHDC4 semapv:UnspecifiedMatching +OMIM:619370 KHDC4 skos:exactMatch ncbigene:22889 semapv:UnspecifiedMatching +OMIM:619371 cardiomyopathy, dilated, 2d skos:exactMatch MONDO:0030300 semapv:UnspecifiedMatching +OMIM:619372 URB2 skos:exactMatch hgnc.symbol:28967 semapv:UnspecifiedMatching +OMIM:619372 URB2 skos:exactMatch hgnc.symbol:URB2 semapv:UnspecifiedMatching +OMIM:619372 URB2 skos:exactMatch ncbigene:9816 semapv:UnspecifiedMatching +OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms skos:exactMatch MONDO:0859162 semapv:UnspecifiedMatching +OMIM:619374 immunodeficiency 81 skos:exactMatch MONDO:0030302 semapv:UnspecifiedMatching +OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency skos:exactMatch MONDO:0800130 semapv:UnspecifiedMatching +OMIM:619376 faundes-banka syndrome skos:exactMatch MONDO:0859163 semapv:UnspecifiedMatching +OMIM:619377 osteootohepatoenteric syndrome skos:exactMatch MONDO:0859164 semapv:UnspecifiedMatching +OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:32621 semapv:UnspecifiedMatching +OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:SNORA31 semapv:UnspecifiedMatching +OMIM:619378 SNORA31 skos:exactMatch ncbigene:677814 semapv:UnspecifiedMatching +OMIM:619379 spermatogenic failure 54 skos:exactMatch MONDO:0023664 semapv:UnspecifiedMatching +OMIM:619380 spermatogenic failure 55 skos:exactMatch MONDO:0030307 semapv:UnspecifiedMatching +OMIM:619381 immunodeficiency 82 with systemic inflammation skos:exactMatch MONDO:0030308 semapv:UnspecifiedMatching +OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 skos:exactMatch MONDO:0958183 semapv:UnspecifiedMatching +OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities skos:exactMatch MONDO:0859165 semapv:UnspecifiedMatching +OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:29014 semapv:UnspecifiedMatching +OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:ZBTB39 semapv:UnspecifiedMatching +OMIM:619384 ZBTB39 skos:exactMatch ncbigene:9880 semapv:UnspecifiedMatching +OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:29161 semapv:UnspecifiedMatching +OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:ZNF510 semapv:UnspecifiedMatching +OMIM:619385 ZNF510 skos:exactMatch ncbigene:22869 semapv:UnspecifiedMatching +OMIM:619386 combined oxidative phosphorylation deficiency 52 skos:exactMatch MONDO:0030311 semapv:UnspecifiedMatching +OMIM:619387 CATIP skos:exactMatch hgnc.symbol:25062 semapv:UnspecifiedMatching +OMIM:619387 CATIP skos:exactMatch hgnc.symbol:CATIP semapv:UnspecifiedMatching +OMIM:619387 CATIP skos:exactMatch ncbigene:375307 semapv:UnspecifiedMatching +OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:25596 semapv:UnspecifiedMatching +OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:TTC17 semapv:UnspecifiedMatching +OMIM:619388 TTC17 skos:exactMatch ncbigene:55761 semapv:UnspecifiedMatching +OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 skos:exactMatch MONDO:0030312 semapv:UnspecifiedMatching +OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:14670 semapv:UnspecifiedMatching +OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:COL20A1 semapv:UnspecifiedMatching +OMIM:619390 COL20A1 skos:exactMatch ncbigene:57642 semapv:UnspecifiedMatching +OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:33854 semapv:UnspecifiedMatching +OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:CCDC157 semapv:UnspecifiedMatching +OMIM:619391 CCDC157 skos:exactMatch ncbigene:550631 semapv:UnspecifiedMatching +OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:33795 semapv:UnspecifiedMatching +OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:C14orf180 semapv:UnspecifiedMatching +OMIM:619392 C14ORF180 skos:exactMatch ncbigene:400258 semapv:UnspecifiedMatching +OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:21751 semapv:UnspecifiedMatching +OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:KBTBD2 semapv:UnspecifiedMatching +OMIM:619393 KBTBD2 skos:exactMatch ncbigene:25948 semapv:UnspecifiedMatching +OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:25891 semapv:UnspecifiedMatching +OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:CBR4 semapv:UnspecifiedMatching +OMIM:619394 CBR4 skos:exactMatch ncbigene:84869 semapv:UnspecifiedMatching +OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:17940 semapv:UnspecifiedMatching +OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:MYEF2 semapv:UnspecifiedMatching +OMIM:619395 MYEF2 skos:exactMatch ncbigene:50804 semapv:UnspecifiedMatching +OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 skos:exactMatch MONDO:0030313 semapv:UnspecifiedMatching +OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:12868 semapv:UnspecifiedMatching +OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:ZFPL1 semapv:UnspecifiedMatching +OMIM:619397 ZFPL1 skos:exactMatch ncbigene:7542 semapv:UnspecifiedMatching +OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:exactMatch MONDO:0030314 semapv:UnspecifiedMatching +OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:20660 semapv:UnspecifiedMatching +OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:TSPAN18 semapv:UnspecifiedMatching +OMIM:619399 TSPAN18 skos:exactMatch ncbigene:90139 semapv:UnspecifiedMatching +OMIM:619400 visceral leiomyopathy, african degenerative skos:exactMatch MONDO:0859166 semapv:UnspecifiedMatching +OMIM:619401 lymphatic malformation 11 skos:exactMatch MONDO:0030316 semapv:UnspecifiedMatching +OMIM:619402 cardiomyopathy, familial hypertrophic, 28 skos:exactMatch MONDO:0030317 semapv:UnspecifiedMatching +OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:47044 semapv:UnspecifiedMatching +OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:CCAT2 semapv:UnspecifiedMatching +OMIM:619403 CCAT2 skos:exactMatch ncbigene:101805488 semapv:UnspecifiedMatching +OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:26070 semapv:UnspecifiedMatching +OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:TRMT61B semapv:UnspecifiedMatching +OMIM:619404 TRMT61B skos:exactMatch ncbigene:55006 semapv:UnspecifiedMatching +OMIM:619405 spinocerebellar ataxia, autosomal recessive 30 skos:exactMatch MONDO:0030318 semapv:UnspecifiedMatching +OMIM:619406 hypokalemic tubulopathy and deafness skos:exactMatch MONDO:0859167 semapv:UnspecifiedMatching +OMIM:619407 whim syndrome 2 skos:exactMatch MONDO:0030374 semapv:UnspecifiedMatching +OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:27316 semapv:UnspecifiedMatching +OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:TRIM65 semapv:UnspecifiedMatching +OMIM:619408 TRIM65 skos:exactMatch ncbigene:201292 semapv:UnspecifiedMatching +OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:21256 semapv:UnspecifiedMatching +OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:TSPO2 semapv:UnspecifiedMatching +OMIM:619409 TSPO2 skos:exactMatch ncbigene:222642 semapv:UnspecifiedMatching +OMIM:619410 TTLL12 skos:exactMatch hgnc.symbol:28974 semapv:UnspecifiedMatching +OMIM:619410 TTLL12 skos:exactMatch hgnc.symbol:TTLL12 semapv:UnspecifiedMatching +OMIM:619410 TTLL12 skos:exactMatch ncbigene:23170 semapv:UnspecifiedMatching +OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:28962 semapv:UnspecifiedMatching +OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:SPCS2 semapv:UnspecifiedMatching +OMIM:619411 SPCS2 skos:exactMatch ncbigene:9789 semapv:UnspecifiedMatching +OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:29032 semapv:UnspecifiedMatching +OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:SEC14L5 semapv:UnspecifiedMatching +OMIM:619412 SEC14L5 skos:exactMatch ncbigene:9717 semapv:UnspecifiedMatching +OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:29072 semapv:UnspecifiedMatching +OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:CCDC144A semapv:UnspecifiedMatching +OMIM:619413 CCDC144A skos:exactMatch ncbigene:9720 semapv:UnspecifiedMatching +OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:29510 semapv:UnspecifiedMatching +OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:MTFR1 semapv:UnspecifiedMatching +OMIM:619414 MTFR1 skos:exactMatch ncbigene:9650 semapv:UnspecifiedMatching +OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:19140 semapv:UnspecifiedMatching +OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:TTBK1 semapv:UnspecifiedMatching +OMIM:619415 TTBK1 skos:exactMatch ncbigene:84630 semapv:UnspecifiedMatching +OMIM:619416 TRIM60 skos:exactMatch hgnc.symbol:21162 semapv:UnspecifiedMatching +OMIM:619416 TRIM60 skos:exactMatch hgnc.symbol:TRIM60 semapv:UnspecifiedMatching +OMIM:619416 TRIM60 skos:exactMatch ncbigene:166655 semapv:UnspecifiedMatching +OMIM:619417 TRIM61 skos:exactMatch hgnc.symbol:24339 semapv:UnspecifiedMatching +OMIM:619417 TRIM61 skos:exactMatch hgnc.symbol:TRIM61 semapv:UnspecifiedMatching +OMIM:619417 TRIM61 skos:exactMatch ncbigene:391712 semapv:UnspecifiedMatching +OMIM:619418 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 skos:exactMatch MONDO:0030375 semapv:UnspecifiedMatching +OMIM:619419 NACAD skos:exactMatch hgnc.symbol:22196 semapv:UnspecifiedMatching +OMIM:619419 NACAD skos:exactMatch hgnc.symbol:NACAD semapv:UnspecifiedMatching +OMIM:619419 NACAD skos:exactMatch ncbigene:23148 semapv:UnspecifiedMatching +OMIM:619420 martsolf syndrome 2 skos:exactMatch MONDO:0030376 semapv:UnspecifiedMatching +OMIM:619421 DYNAP skos:exactMatch hgnc.symbol:26808 semapv:UnspecifiedMatching +OMIM:619421 DYNAP skos:exactMatch hgnc.symbol:DYNAP semapv:UnspecifiedMatching +OMIM:619421 DYNAP skos:exactMatch ncbigene:284254 semapv:UnspecifiedMatching +OMIM:619422 spinocerebellar ataxia, autosomal recessive 31 skos:exactMatch MONDO:0030323 semapv:UnspecifiedMatching +OMIM:619423 combined oxidative phosphorylation deficiency 53 skos:exactMatch MONDO:0030378 semapv:UnspecifiedMatching +OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch MONDO:0859168 semapv:UnspecifiedMatching +OMIM:619425 mitochondrial DNA depletion syndrome 16b (neuroophthalmic type) skos:exactMatch MONDO:0030326 semapv:UnspecifiedMatching +OMIM:619426 white-kernohan syndrome skos:exactMatch MONDO:0859169 semapv:UnspecifiedMatching +OMIM:619427 ZNF410 skos:exactMatch hgnc.symbol:20144 semapv:UnspecifiedMatching +OMIM:619427 ZNF410 skos:exactMatch hgnc.symbol:ZNF410 semapv:UnspecifiedMatching +OMIM:619427 ZNF410 skos:exactMatch ncbigene:57862 semapv:UnspecifiedMatching +OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch MONDO:0100111 semapv:UnspecifiedMatching +OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:24239 semapv:UnspecifiedMatching +OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:TMCC2 semapv:UnspecifiedMatching +OMIM:619429 TMCC2 skos:exactMatch ncbigene:9911 semapv:UnspecifiedMatching +OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:16130 semapv:UnspecifiedMatching +OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:SPINT4 semapv:UnspecifiedMatching +OMIM:619430 SPINT4 skos:exactMatch ncbigene:391253 semapv:UnspecifiedMatching +OMIM:619431 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:exactMatch MONDO:0030329 semapv:UnspecifiedMatching +OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:28125 semapv:UnspecifiedMatching +OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:NAA11 semapv:UnspecifiedMatching +OMIM:619432 NAA11 skos:exactMatch ncbigene:84779 semapv:UnspecifiedMatching +OMIM:619433 cardiomyopathy, familial restrictive, 6 skos:exactMatch MONDO:0030330 semapv:UnspecifiedMatching +OMIM:619434 SUCO skos:exactMatch hgnc.symbol:1240 semapv:UnspecifiedMatching +OMIM:619434 SUCO skos:exactMatch hgnc.symbol:SUCO semapv:UnspecifiedMatching +OMIM:619434 SUCO skos:exactMatch ncbigene:51430 semapv:UnspecifiedMatching +OMIM:619435 ritscher-schinzel syndrome 4 skos:exactMatch MONDO:0030331 semapv:UnspecifiedMatching +OMIM:619436 ciliary dyskinesia, primary, 46 skos:exactMatch MONDO:0030332 semapv:UnspecifiedMatching +OMIM:619437 immunodeficiency 84 skos:exactMatch MONDO:0030333 semapv:UnspecifiedMatching +OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:24340 semapv:UnspecifiedMatching +OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:NAA35 semapv:UnspecifiedMatching +OMIM:619438 NAA35 skos:exactMatch ncbigene:60560 semapv:UnspecifiedMatching +OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:26921 semapv:UnspecifiedMatching +OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:PARP6 semapv:UnspecifiedMatching +OMIM:619439 PARP6 skos:exactMatch ncbigene:56965 semapv:UnspecifiedMatching +OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:26154 semapv:UnspecifiedMatching +OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:QSER1 semapv:UnspecifiedMatching +OMIM:619440 QSER1 skos:exactMatch ncbigene:79832 semapv:UnspecifiedMatching +OMIM:619441 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 skos:exactMatch MONDO:0030334 semapv:UnspecifiedMatching +OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:15530 semapv:UnspecifiedMatching +OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:TULP4 semapv:UnspecifiedMatching +OMIM:619442 TULP4 skos:exactMatch ncbigene:56995 semapv:UnspecifiedMatching +OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:29537 semapv:UnspecifiedMatching +OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:MEIS3 semapv:UnspecifiedMatching +OMIM:619443 MEIS3 skos:exactMatch ncbigene:56917 semapv:UnspecifiedMatching +OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:26533 semapv:UnspecifiedMatching +OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:CCDC7 semapv:UnspecifiedMatching +OMIM:619444 CCDC7 skos:exactMatch ncbigene:79741 semapv:UnspecifiedMatching +OMIM:619445 diarrhea 12, with microvillus atrophy skos:exactMatch MONDO:0030335 semapv:UnspecifiedMatching +OMIM:619446 retinal dystrophy and microvillus inclusion disease skos:exactMatch MONDO:0859170 semapv:UnspecifiedMatching +OMIM:619447 FAM189B skos:exactMatch hgnc.symbol:ENTREP3 semapv:UnspecifiedMatching +OMIM:619447 FAM189B skos:exactMatch ncbigene:10712 semapv:UnspecifiedMatching +OMIM:619448 SRARP skos:exactMatch hgnc.symbol:28339 semapv:UnspecifiedMatching +OMIM:619448 SRARP skos:exactMatch hgnc.symbol:SRARP semapv:UnspecifiedMatching +OMIM:619448 SRARP skos:exactMatch ncbigene:149563 semapv:UnspecifiedMatching +OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:24286 semapv:UnspecifiedMatching +OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:RRP7A semapv:UnspecifiedMatching +OMIM:619449 RRP7A skos:exactMatch ncbigene:27341 semapv:UnspecifiedMatching +OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:33643 semapv:UnspecifiedMatching +OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:MIR874 semapv:UnspecifiedMatching +OMIM:619450 MIR874 skos:exactMatch ncbigene:100126343 semapv:UnspecifiedMatching +OMIM:619451 cutis laxa, autosomal recessive, iia 2e skos:exactMatch MONDO:0030337 semapv:UnspecifiedMatching +OMIM:619452 anencephaly 2 skos:exactMatch MONDO:0030338 semapv:UnspecifiedMatching +OMIM:619453 microcephaly 28, primary, autosomal recessive skos:exactMatch MONDO:0030339 semapv:UnspecifiedMatching +OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:20457 semapv:UnspecifiedMatching +OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:RNF144A semapv:UnspecifiedMatching +OMIM:619454 RNF144A skos:exactMatch ncbigene:9781 semapv:UnspecifiedMatching +OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:23664 semapv:UnspecifiedMatching +OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:SH3PXD2A semapv:UnspecifiedMatching +OMIM:619455 SH3PXD2A skos:exactMatch ncbigene:9644 semapv:UnspecifiedMatching +OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:17719 semapv:UnspecifiedMatching +OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:CDC42SE1 semapv:UnspecifiedMatching +OMIM:619456 CDC42SE1 skos:exactMatch ncbigene:56882 semapv:UnspecifiedMatching +OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:18547 semapv:UnspecifiedMatching +OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:CDC42SE2 semapv:UnspecifiedMatching +OMIM:619457 CDC42SE2 skos:exactMatch ncbigene:56990 semapv:UnspecifiedMatching +OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:20445 semapv:UnspecifiedMatching +OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:MBD6 semapv:UnspecifiedMatching +OMIM:619458 MBD6 skos:exactMatch ncbigene:114785 semapv:UnspecifiedMatching +OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:29027 semapv:UnspecifiedMatching +OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:ZZEF1 semapv:UnspecifiedMatching +OMIM:619459 ZZEF1 skos:exactMatch ncbigene:23140 semapv:UnspecifiedMatching +OMIM:619460 luo-schoch-yamamoto syndrome skos:exactMatch MONDO:0859171 semapv:UnspecifiedMatching +OMIM:619461 myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive skos:exactMatch MONDO:0030341 semapv:UnspecifiedMatching +OMIM:619462 hemolytic disease of fetus and newborn, rh-induced skos:exactMatch MONDO:0859172 semapv:UnspecifiedMatching +OMIM:619463 portal hypertension, noncirrhotic, 2 skos:exactMatch MONDO:0030397 semapv:UnspecifiedMatching +OMIM:619464 sick sinus syndrome 4 skos:exactMatch MONDO:0859173 semapv:UnspecifiedMatching +OMIM:619465 visceral neuropathy, familial, 2, autosomal recessive skos:exactMatch MONDO:0030399 semapv:UnspecifiedMatching +OMIM:619466 ciliary dyskinesia, primary, 47, and lissencephaly skos:exactMatch MONDO:0030346 semapv:UnspecifiedMatching +OMIM:619467 usmani-riazuddin syndrome, autosomal dominant skos:exactMatch MONDO:0859174 semapv:UnspecifiedMatching +OMIM:619468 nephronophthisis-like nephropathy 2 skos:exactMatch MONDO:0859175 semapv:UnspecifiedMatching +OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:25363 semapv:UnspecifiedMatching +OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:TMEM222 semapv:UnspecifiedMatching +OMIM:619469 TMEM222 skos:exactMatch ncbigene:84065 semapv:UnspecifiedMatching +OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities skos:exactMatch MONDO:0859176 semapv:UnspecifiedMatching +OMIM:619471 bardet-biedl syndrome 20 skos:exactMatch MONDO:0023670 semapv:UnspecifiedMatching +OMIM:619472 viss syndrome skos:exactMatch MONDO:0859177 semapv:UnspecifiedMatching +OMIM:619473 oculopharyngodistal myopathy 3 skos:exactMatch MONDO:0023671 semapv:UnspecifiedMatching +OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:9757 semapv:UnspecifiedMatching +OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:R3HDM1 semapv:UnspecifiedMatching +OMIM:619474 R3HDM1 skos:exactMatch ncbigene:23518 semapv:UnspecifiedMatching +OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities skos:exactMatch MONDO:0859178 semapv:UnspecifiedMatching +OMIM:619476 joubert syndrome 38 skos:exactMatch MONDO:0030353 semapv:UnspecifiedMatching +OMIM:619477 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch MONDO:0030354 semapv:UnspecifiedMatching +OMIM:619478 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch MONDO:0030355 semapv:UnspecifiedMatching +OMIM:619479 short-rib thoracic dysplasia 21 without polydactyly skos:exactMatch MONDO:0030356 semapv:UnspecifiedMatching +OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch MONDO:0859179 semapv:UnspecifiedMatching +OMIM:619481 bile acid malabsorption, primary, 2 skos:exactMatch MONDO:0859180 semapv:UnspecifiedMatching +OMIM:619482 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:exactMatch MONDO:0030537 semapv:UnspecifiedMatching +OMIM:619483 central hypoventilation syndrome, congenital, 3 skos:exactMatch MONDO:0030539 semapv:UnspecifiedMatching +OMIM:619484 cholestasis, progressive familial intrahepatic, 6 skos:exactMatch MONDO:0030360 semapv:UnspecifiedMatching +OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:14615 semapv:UnspecifiedMatching +OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:PAPPA2 semapv:UnspecifiedMatching +OMIM:619485 PAPPA2 skos:exactMatch ncbigene:60676 semapv:UnspecifiedMatching +OMIM:619486 aicardi-goutieres syndrome 8 skos:exactMatch MONDO:0030361 semapv:UnspecifiedMatching +OMIM:619487 aicardi-goutieres syndrome 9 skos:exactMatch MONDO:0030362 semapv:UnspecifiedMatching +OMIM:619488 degcags syndrome skos:exactMatch MONDO:0859181 semapv:UnspecifiedMatching +OMIM:619489 short stature, dauber-argente iia skos:exactMatch MONDO:0859182 semapv:UnspecifiedMatching +OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:25287 semapv:UnspecifiedMatching +OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:LMBRD2 semapv:UnspecifiedMatching +OMIM:619490 LMBRD2 skos:exactMatch ncbigene:92255 semapv:UnspecifiedMatching +OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to skos:exactMatch MONDO:0859183 semapv:UnspecifiedMatching +OMIM:619492 cardiomyopathy, dilated, 2e skos:exactMatch MONDO:0030366 semapv:UnspecifiedMatching +OMIM:619493 congenital disorder of glycosylation, iia 2v skos:exactMatch MONDO:0030423 semapv:UnspecifiedMatching +OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:25046 semapv:UnspecifiedMatching +OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:SNHG11 semapv:UnspecifiedMatching +OMIM:619494 SNHG11 skos:exactMatch ncbigene:128439 semapv:UnspecifiedMatching +OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:196 semapv:UnspecifiedMatching +OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:ADAM18 semapv:UnspecifiedMatching +OMIM:619495 ADAM18 skos:exactMatch ncbigene:8749 semapv:UnspecifiedMatching +OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:16838 semapv:UnspecifiedMatching +OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:ZNF358 semapv:UnspecifiedMatching +OMIM:619496 ZNF358 skos:exactMatch ncbigene:140467 semapv:UnspecifiedMatching +OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:26164 semapv:UnspecifiedMatching +OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:NAA16 semapv:UnspecifiedMatching +OMIM:619497 NAA16 skos:exactMatch ncbigene:79612 semapv:UnspecifiedMatching +OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:17808 semapv:UnspecifiedMatching +OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:ZC3H4 semapv:UnspecifiedMatching +OMIM:619498 ZC3H4 skos:exactMatch ncbigene:23211 semapv:UnspecifiedMatching +OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:18609 semapv:UnspecifiedMatching +OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:ZNF383 semapv:UnspecifiedMatching +OMIM:619499 ZNF383 skos:exactMatch ncbigene:163087 semapv:UnspecifiedMatching +OMIM:619500 deafness, autosomal dominant 81 skos:exactMatch MONDO:0030549 semapv:UnspecifiedMatching +OMIM:619501 ventriculomegaly and arthrogryposis skos:exactMatch MONDO:0859184 semapv:UnspecifiedMatching +OMIM:619502 C9ORF24 skos:exactMatch hgnc.symbol:SPMIP6 semapv:UnspecifiedMatching +OMIM:619502 C9ORF24 skos:exactMatch ncbigene:84688 semapv:UnspecifiedMatching +OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies skos:exactMatch MONDO:0859185 semapv:UnspecifiedMatching +OMIM:619504 chopra-amiel-gordon syndrome skos:exactMatch MONDO:0859186 semapv:UnspecifiedMatching +OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:20809 semapv:UnspecifiedMatching +OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:ZNF431 semapv:UnspecifiedMatching +OMIM:619505 ZNF431 skos:exactMatch ncbigene:170959 semapv:UnspecifiedMatching +OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:20636 semapv:UnspecifiedMatching +OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:ZNF415 semapv:UnspecifiedMatching +OMIM:619506 ZNF415 skos:exactMatch ncbigene:55786 semapv:UnspecifiedMatching +OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:20690 semapv:UnspecifiedMatching +OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:ZNF425 semapv:UnspecifiedMatching +OMIM:619507 ZNF425 skos:exactMatch ncbigene:155054 semapv:UnspecifiedMatching +OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:21018 semapv:UnspecifiedMatching +OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:ZNF445 semapv:UnspecifiedMatching +OMIM:619508 ZNF445 skos:exactMatch ncbigene:353274 semapv:UnspecifiedMatching +OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:20647 semapv:UnspecifiedMatching +OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:ZNF418 semapv:UnspecifiedMatching +OMIM:619509 ZNF418 skos:exactMatch ncbigene:147686 semapv:UnspecifiedMatching +OMIM:619510 immunodeficiency 85 and autoimmunity skos:exactMatch MONDO:0030428 semapv:UnspecifiedMatching +OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:16736 semapv:UnspecifiedMatching +OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:ZNF354C semapv:UnspecifiedMatching +OMIM:619511 ZNF354C skos:exactMatch ncbigene:30832 semapv:UnspecifiedMatching +OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities skos:exactMatch MONDO:0859187 semapv:UnspecifiedMatching +OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:16785 semapv:UnspecifiedMatching +OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:SWT1 semapv:UnspecifiedMatching +OMIM:619513 SWT1 skos:exactMatch ncbigene:54823 semapv:UnspecifiedMatching +OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:16788 semapv:UnspecifiedMatching +OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:SHCBP1L semapv:UnspecifiedMatching +OMIM:619514 SHCBP1L skos:exactMatch ncbigene:81626 semapv:UnspecifiedMatching +OMIM:619515 spermatogenic failure 56 skos:exactMatch MONDO:0030430 semapv:UnspecifiedMatching +OMIM:619516 BFAR skos:exactMatch hgnc.symbol:17613 semapv:UnspecifiedMatching +OMIM:619516 BFAR skos:exactMatch hgnc.symbol:BFAR semapv:UnspecifiedMatching +OMIM:619516 BFAR skos:exactMatch ncbigene:51283 semapv:UnspecifiedMatching +OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities skos:exactMatch MONDO:0859188 semapv:UnspecifiedMatching +OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome skos:exactMatch MONDO:0859189 semapv:UnspecifiedMatching +OMIM:619519 charcot-marie-tooth disease, axonal, iia 2ff skos:exactMatch MONDO:0030433 semapv:UnspecifiedMatching +OMIM:619521 epilepsy, idiopathic generalized, susceptibility to, 18 skos:exactMatch MONDO:0030434 semapv:UnspecifiedMatching +OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities skos:exactMatch MONDO:0859190 semapv:UnspecifiedMatching +OMIM:619523 anemia, sideroblastic, 5 skos:exactMatch MONDO:0030436 semapv:UnspecifiedMatching +OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:28200 semapv:UnspecifiedMatching +OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:ZNF764 semapv:UnspecifiedMatching +OMIM:619524 ZNF764 skos:exactMatch ncbigene:92595 semapv:UnspecifiedMatching +OMIM:619525 congenital disorder of glycosylation, iia iiw skos:exactMatch MONDO:0030437 semapv:UnspecifiedMatching +OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:24992 semapv:UnspecifiedMatching +OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:ZNF706 semapv:UnspecifiedMatching +OMIM:619526 ZNF706 skos:exactMatch ncbigene:51123 semapv:UnspecifiedMatching +OMIM:619527 pontocerebellar hypoplasia, iia 16 skos:exactMatch MONDO:0030438 semapv:UnspecifiedMatching +OMIM:619528 spermatogenic failure 57 skos:exactMatch MONDO:0030439 semapv:UnspecifiedMatching +OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:21185 semapv:UnspecifiedMatching +OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:PNLDC1 semapv:UnspecifiedMatching +OMIM:619529 PNLDC1 skos:exactMatch ncbigene:154197 semapv:UnspecifiedMatching +OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:17117 semapv:UnspecifiedMatching +OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:SLC35C2 semapv:UnspecifiedMatching +OMIM:619530 SLC35C2 skos:exactMatch ncbigene:51006 semapv:UnspecifiedMatching +OMIM:619531 cone-rod dystrophy 22 skos:exactMatch MONDO:0030440 semapv:UnspecifiedMatching +OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:30714 semapv:UnspecifiedMatching +OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:ADAD2 semapv:UnspecifiedMatching +OMIM:619532 ADAD2 skos:exactMatch ncbigene:161931 semapv:UnspecifiedMatching +OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:16271 semapv:UnspecifiedMatching +OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:RAD21L1 semapv:UnspecifiedMatching +OMIM:619533 RAD21L1 skos:exactMatch ncbigene:642636 semapv:UnspecifiedMatching +OMIM:619534 biliary, renal, neurologic, and skeletal syndrome skos:exactMatch MONDO:0859191 semapv:UnspecifiedMatching +OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:18154 semapv:UnspecifiedMatching +OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:RNF115 semapv:UnspecifiedMatching +OMIM:619535 RNF115 skos:exactMatch ncbigene:27246 semapv:UnspecifiedMatching +OMIM:619536 USP31 skos:exactMatch hgnc.symbol:20060 semapv:UnspecifiedMatching +OMIM:619536 USP31 skos:exactMatch hgnc.symbol:USP31 semapv:UnspecifiedMatching +OMIM:619536 USP31 skos:exactMatch ncbigene:57478 semapv:UnspecifiedMatching +OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:19961 semapv:UnspecifiedMatching +OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:ANGEL1 semapv:UnspecifiedMatching +OMIM:619537 ANGEL1 skos:exactMatch ncbigene:23357 semapv:UnspecifiedMatching +OMIM:619538 cerebral cavernous malformations 4 skos:exactMatch MONDO:0859192 semapv:UnspecifiedMatching +OMIM:619539 neuroocular syndrome skos:exactMatch MONDO:0859193 semapv:UnspecifiedMatching +OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:14943 semapv:UnspecifiedMatching +OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:PPP1R3E semapv:UnspecifiedMatching +OMIM:619540 PPP1R3E skos:exactMatch ncbigene:90673 semapv:UnspecifiedMatching +OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:14945 semapv:UnspecifiedMatching +OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:PPP1R3G semapv:UnspecifiedMatching +OMIM:619541 PPP1R3G skos:exactMatch ncbigene:648791 semapv:UnspecifiedMatching +OMIM:619542 king-denborough syndrome skos:exactMatch MONDO:0020485 semapv:UnspecifiedMatching +OMIM:619543 boudin-mortier syndrome skos:exactMatch MONDO:0859194 semapv:UnspecifiedMatching +OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:28121 semapv:UnspecifiedMatching +OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:PRRC2B semapv:UnspecifiedMatching +OMIM:619544 PRRC2B skos:exactMatch ncbigene:84726 semapv:UnspecifiedMatching +OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:14993 semapv:UnspecifiedMatching +OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:OR10J5 semapv:UnspecifiedMatching +OMIM:619546 OR10J5 skos:exactMatch ncbigene:127385 semapv:UnspecifiedMatching +OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:20150 semapv:UnspecifiedMatching +OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:RAB15 semapv:UnspecifiedMatching +OMIM:619547 RAB15 skos:exactMatch ncbigene:376267 semapv:UnspecifiedMatching +OMIM:619548 usmani-riazuddin syndrome, autosomal recessive skos:exactMatch MONDO:0859196 semapv:UnspecifiedMatching +OMIM:619549 immunodeficiency 86 skos:exactMatch MONDO:0030448 semapv:UnspecifiedMatching +OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:18284 semapv:UnspecifiedMatching +OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:RAB40B semapv:UnspecifiedMatching +OMIM:619550 RAB40B skos:exactMatch ncbigene:10966 semapv:UnspecifiedMatching +OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:18285 semapv:UnspecifiedMatching +OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:RAB40C semapv:UnspecifiedMatching +OMIM:619551 RAB40C skos:exactMatch ncbigene:57799 semapv:UnspecifiedMatching +OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:25504 semapv:UnspecifiedMatching +OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:MAGOHB semapv:UnspecifiedMatching +OMIM:619552 MAGOHB skos:exactMatch ncbigene:55110 semapv:UnspecifiedMatching +OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia skos:exactMatch MONDO:0030449 semapv:UnspecifiedMatching +OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:29788 semapv:UnspecifiedMatching +OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:MTIF3 semapv:UnspecifiedMatching +OMIM:619554 MTIF3 skos:exactMatch ncbigene:219402 semapv:UnspecifiedMatching +OMIM:619555 epidermolysis bullosa simplex 2a, generalized severe skos:exactMatch MONDO:0030489 semapv:UnspecifiedMatching +OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch MONDO:0859197 semapv:UnspecifiedMatching +OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies skos:exactMatch MONDO:0859198 semapv:UnspecifiedMatching +OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:16521 semapv:UnspecifiedMatching +OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:RAB39A semapv:UnspecifiedMatching +OMIM:619558 RAB39A skos:exactMatch ncbigene:54734 semapv:UnspecifiedMatching +OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:29051 semapv:UnspecifiedMatching +OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:EFCAB14 semapv:UnspecifiedMatching +OMIM:619559 EFCAB14 skos:exactMatch ncbigene:9813 semapv:UnspecifiedMatching +OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:31760 semapv:UnspecifiedMatching +OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:MIR135B semapv:UnspecifiedMatching +OMIM:619560 MIR135B skos:exactMatch ncbigene:442891 semapv:UnspecifiedMatching +OMIM:619561 developmental and epileptic encephalopathy 97 skos:exactMatch MONDO:0030453 semapv:UnspecifiedMatching +OMIM:619562 joubert syndrome 39 skos:exactMatch MONDO:0030454 semapv:UnspecifiedMatching +OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:29804 semapv:UnspecifiedMatching +OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:MICALL1 semapv:UnspecifiedMatching +OMIM:619563 MICALL1 skos:exactMatch ncbigene:85377 semapv:UnspecifiedMatching +OMIM:619564 CLXN skos:exactMatch hgnc.symbol:25678 semapv:UnspecifiedMatching +OMIM:619564 CLXN skos:exactMatch hgnc.symbol:CLXN semapv:UnspecifiedMatching +OMIM:619564 CLXN skos:exactMatch ncbigene:79645 semapv:UnspecifiedMatching +OMIM:619565 dystonia 31 skos:exactMatch MONDO:0030455 semapv:UnspecifiedMatching +OMIM:619566 muscular dystrophy, limb-girdle, autosomal recessive 27 skos:exactMatch MONDO:0030456 semapv:UnspecifiedMatching +OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:26379 semapv:UnspecifiedMatching +OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:EFCAB3 semapv:UnspecifiedMatching +OMIM:619567 EFCAB3 skos:exactMatch ncbigene:146779 semapv:UnspecifiedMatching +OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:29129 semapv:UnspecifiedMatching +OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:ENDOD1 semapv:UnspecifiedMatching +OMIM:619568 ENDOD1 skos:exactMatch ncbigene:23052 semapv:UnspecifiedMatching +OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:24932 semapv:UnspecifiedMatching +OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:C9orf78 semapv:UnspecifiedMatching +OMIM:619569 C9ORF78 skos:exactMatch ncbigene:51759 semapv:UnspecifiedMatching +OMIM:619570 UHRF1BP1 skos:exactMatch hgnc.symbol:BLTP3A semapv:UnspecifiedMatching +OMIM:619570 UHRF1BP1 skos:exactMatch ncbigene:54887 semapv:UnspecifiedMatching +OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:25970 semapv:UnspecifiedMatching +OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:ANKRD49 semapv:UnspecifiedMatching +OMIM:619571 ANKRD49 skos:exactMatch ncbigene:54851 semapv:UnspecifiedMatching +OMIM:619572 MIR15B skos:exactMatch hgnc.symbol:31544 semapv:UnspecifiedMatching +OMIM:619572 MIR15B skos:exactMatch hgnc.symbol:MIR15B semapv:UnspecifiedMatching +OMIM:619572 MIR15B skos:exactMatch ncbigene:406949 semapv:UnspecifiedMatching +OMIM:619573 immunodeficiency 87 and autoimmunity skos:exactMatch MONDO:0030457 semapv:UnspecifiedMatching +OMIM:619574 charcot-marie-tooth disease, axonal, iia 2hh skos:exactMatch MONDO:0030458 semapv:UnspecifiedMatching +OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities skos:exactMatch MONDO:0859199 semapv:UnspecifiedMatching +OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch MONDO:0859200 semapv:UnspecifiedMatching +OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:15948 semapv:UnspecifiedMatching +OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:ZGPAT semapv:UnspecifiedMatching +OMIM:619577 ZGPAT skos:exactMatch ncbigene:84619 semapv:UnspecifiedMatching +OMIM:619578 AFG2B skos:exactMatch hgnc.symbol:AFG2B semapv:UnspecifiedMatching +OMIM:619578 AFG2B skos:exactMatch ncbigene:79029 semapv:UnspecifiedMatching +OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:20166 semapv:UnspecifiedMatching +OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:KHNYN semapv:UnspecifiedMatching +OMIM:619579 KHNYN skos:exactMatch ncbigene:23351 semapv:UnspecifiedMatching +OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures skos:exactMatch MONDO:0859201 semapv:UnspecifiedMatching +OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:29196 semapv:UnspecifiedMatching +OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:SLC45A4 semapv:UnspecifiedMatching +OMIM:619581 SLC45A4 skos:exactMatch ncbigene:57210 semapv:UnspecifiedMatching +OMIM:619582 joubert syndrome 40 skos:exactMatch MONDO:0030462 semapv:UnspecifiedMatching +OMIM:619583 EHBP1L1 skos:exactMatch hgnc.symbol:30682 semapv:UnspecifiedMatching +OMIM:619583 EHBP1L1 skos:exactMatch hgnc.symbol:EHBP1L1 semapv:UnspecifiedMatching +OMIM:619583 EHBP1L1 skos:exactMatch ncbigene:254102 semapv:UnspecifiedMatching +OMIM:619584 WSCD1 skos:exactMatch hgnc.symbol:29060 semapv:UnspecifiedMatching +OMIM:619584 WSCD1 skos:exactMatch hgnc.symbol:WSCD1 semapv:UnspecifiedMatching +OMIM:619584 WSCD1 skos:exactMatch ncbigene:23302 semapv:UnspecifiedMatching +OMIM:619585 spermatogenic failure 58 skos:exactMatch MONDO:0030463 semapv:UnspecifiedMatching +OMIM:619586 TSPYL4 skos:exactMatch hgnc.symbol:21559 semapv:UnspecifiedMatching +OMIM:619586 TSPYL4 skos:exactMatch hgnc.symbol:TSPYL4 semapv:UnspecifiedMatching +OMIM:619586 TSPYL4 skos:exactMatch ncbigene:23270 semapv:UnspecifiedMatching +OMIM:619587 ZNF629 skos:exactMatch hgnc.symbol:29008 semapv:UnspecifiedMatching +OMIM:619587 ZNF629 skos:exactMatch hgnc.symbol:ZNF629 semapv:UnspecifiedMatching +OMIM:619587 ZNF629 skos:exactMatch ncbigene:23361 semapv:UnspecifiedMatching +OMIM:619588 epidermolysis bullosa simplex 2b, generalized intermediate skos:exactMatch MONDO:0030525 semapv:UnspecifiedMatching +OMIM:619589 BANCR skos:exactMatch hgnc.symbol:43877 semapv:UnspecifiedMatching +OMIM:619589 BANCR skos:exactMatch hgnc.symbol:BANCR semapv:UnspecifiedMatching +OMIM:619589 BANCR skos:exactMatch ncbigene:100885775 semapv:UnspecifiedMatching +OMIM:619590 PLPPR1 skos:exactMatch hgnc.symbol:25993 semapv:UnspecifiedMatching +OMIM:619590 PLPPR1 skos:exactMatch hgnc.symbol:PLPPR1 semapv:UnspecifiedMatching +OMIM:619590 PLPPR1 skos:exactMatch ncbigene:54886 semapv:UnspecifiedMatching +OMIM:619591 PLPPR2 skos:exactMatch hgnc.symbol:29566 semapv:UnspecifiedMatching +OMIM:619591 PLPPR2 skos:exactMatch hgnc.symbol:PLPPR2 semapv:UnspecifiedMatching +OMIM:619591 PLPPR2 skos:exactMatch ncbigene:64748 semapv:UnspecifiedMatching +OMIM:619593 cataract 49 skos:exactMatch MONDO:0030465 semapv:UnspecifiedMatching +OMIM:619594 epidermolysis bullosa simplex 2c, localized skos:exactMatch MONDO:0030527 semapv:UnspecifiedMatching +OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities skos:exactMatch MONDO:0859202 semapv:UnspecifiedMatching +OMIM:619596 OCIAD1 skos:exactMatch hgnc.symbol:16074 semapv:UnspecifiedMatching +OMIM:619596 OCIAD1 skos:exactMatch hgnc.symbol:OCIAD1 semapv:UnspecifiedMatching +OMIM:619596 OCIAD1 skos:exactMatch ncbigene:54940 semapv:UnspecifiedMatching +OMIM:619597 TRNAU1AP skos:exactMatch hgnc.symbol:30813 semapv:UnspecifiedMatching +OMIM:619597 TRNAU1AP skos:exactMatch hgnc.symbol:TRNAU1AP semapv:UnspecifiedMatching +OMIM:619597 TRNAU1AP skos:exactMatch ncbigene:54952 semapv:UnspecifiedMatching +OMIM:619598 rhizomelic dysplasia, ain-naz iia skos:exactMatch MONDO:0859203 semapv:UnspecifiedMatching +OMIM:619599 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:exactMatch MONDO:0030535 semapv:UnspecifiedMatching +OMIM:619600 AOPEP skos:exactMatch hgnc.symbol:1361 semapv:UnspecifiedMatching +OMIM:619600 AOPEP skos:exactMatch hgnc.symbol:AOPEP semapv:UnspecifiedMatching +OMIM:619600 AOPEP skos:exactMatch ncbigene:84909 semapv:UnspecifiedMatching +OMIM:619601 BCDIN3D skos:exactMatch hgnc.symbol:27050 semapv:UnspecifiedMatching +OMIM:619601 BCDIN3D skos:exactMatch hgnc.symbol:BCDIN3D semapv:UnspecifiedMatching +OMIM:619601 BCDIN3D skos:exactMatch ncbigene:144233 semapv:UnspecifiedMatching +OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies skos:exactMatch MONDO:0859204 semapv:UnspecifiedMatching +OMIM:619603 galloway-mowat syndrome 9 skos:exactMatch MONDO:0030471 semapv:UnspecifiedMatching +OMIM:619604 TMEM92 skos:exactMatch hgnc.symbol:26579 semapv:UnspecifiedMatching +OMIM:619604 TMEM92 skos:exactMatch hgnc.symbol:TMEM92 semapv:UnspecifiedMatching +OMIM:619604 TMEM92 skos:exactMatch ncbigene:162461 semapv:UnspecifiedMatching +OMIM:619605 developmental and epileptic encephalopathy 98 skos:exactMatch MONDO:0030472 semapv:UnspecifiedMatching +OMIM:619606 developmental and epileptic encephalopathy 99 skos:exactMatch MONDO:0030473 semapv:UnspecifiedMatching +OMIM:619607 heterotaxy, visceral, 10, autosomal, with male infertility skos:exactMatch MONDO:0030474 semapv:UnspecifiedMatching +OMIM:619608 heterotaxy, visceral, 11, autosomal, with male infertility skos:exactMatch MONDO:0030475 semapv:UnspecifiedMatching +OMIM:619609 galloway-mowat syndrome 10 skos:exactMatch MONDO:0030476 semapv:UnspecifiedMatching +OMIM:619610 KIF19 skos:exactMatch hgnc.symbol:26735 semapv:UnspecifiedMatching +OMIM:619610 KIF19 skos:exactMatch hgnc.symbol:KIF19 semapv:UnspecifiedMatching +OMIM:619610 KIF19 skos:exactMatch ncbigene:124602 semapv:UnspecifiedMatching +OMIM:619611 interstitial lung disease 1 skos:exactMatch MONDO:0030608 semapv:UnspecifiedMatching +OMIM:619612 BCAP29 skos:exactMatch hgnc.symbol:24131 semapv:UnspecifiedMatching +OMIM:619612 BCAP29 skos:exactMatch hgnc.symbol:BCAP29 semapv:UnspecifiedMatching +OMIM:619612 BCAP29 skos:exactMatch ncbigene:55973 semapv:UnspecifiedMatching +OMIM:619613 delayed puberty, self-limited skos:exactMatch MONDO:0859205 semapv:UnspecifiedMatching +OMIM:619614 retinitis pigmentosa 92 skos:exactMatch MONDO:0030619 semapv:UnspecifiedMatching +OMIM:619615 deafness, autosomal recessive 119 skos:exactMatch MONDO:0030480 semapv:UnspecifiedMatching +OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch MONDO:0859206 semapv:UnspecifiedMatching +OMIM:619617 EFCAB2 skos:exactMatch hgnc.symbol:28166 semapv:UnspecifiedMatching +OMIM:619617 EFCAB2 skos:exactMatch hgnc.symbol:EFCAB2 semapv:UnspecifiedMatching +OMIM:619617 EFCAB2 skos:exactMatch ncbigene:84288 semapv:UnspecifiedMatching +OMIM:619618 LYPD5 skos:exactMatch hgnc.symbol:26397 semapv:UnspecifiedMatching +OMIM:619618 LYPD5 skos:exactMatch hgnc.symbol:LYPD5 semapv:UnspecifiedMatching +OMIM:619618 LYPD5 skos:exactMatch ncbigene:284348 semapv:UnspecifiedMatching +OMIM:619619 SERPINA11 skos:exactMatch hgnc.symbol:19193 semapv:UnspecifiedMatching +OMIM:619619 SERPINA11 skos:exactMatch hgnc.symbol:SERPINA11 semapv:UnspecifiedMatching +OMIM:619619 SERPINA11 skos:exactMatch ncbigene:256394 semapv:UnspecifiedMatching +OMIM:619620 CTRB2 skos:exactMatch hgnc.symbol:2522 semapv:UnspecifiedMatching +OMIM:619620 CTRB2 skos:exactMatch hgnc.symbol:CTRB2 semapv:UnspecifiedMatching +OMIM:619620 CTRB2 skos:exactMatch ncbigene:440387 semapv:UnspecifiedMatching +OMIM:619621 spastic paraplegia 84, autosomal recessive skos:exactMatch MONDO:0030482 semapv:UnspecifiedMatching +OMIM:619622 LAX1 skos:exactMatch hgnc.symbol:26005 semapv:UnspecifiedMatching +OMIM:619622 LAX1 skos:exactMatch hgnc.symbol:LAX1 semapv:UnspecifiedMatching +OMIM:619622 LAX1 skos:exactMatch ncbigene:54900 semapv:UnspecifiedMatching +OMIM:619623 LRRN1 skos:exactMatch hgnc.symbol:20980 semapv:UnspecifiedMatching +OMIM:619623 LRRN1 skos:exactMatch hgnc.symbol:LRRN1 semapv:UnspecifiedMatching +OMIM:619623 LRRN1 skos:exactMatch ncbigene:57633 semapv:UnspecifiedMatching +OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:19295 semapv:UnspecifiedMatching +OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:LMTK3 semapv:UnspecifiedMatching +OMIM:619624 LMTK3 skos:exactMatch ncbigene:114783 semapv:UnspecifiedMatching +OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:16990 semapv:UnspecifiedMatching +OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:C11orf58 semapv:UnspecifiedMatching +OMIM:619625 C11ORF58 skos:exactMatch ncbigene:10944 semapv:UnspecifiedMatching +OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:24726 semapv:UnspecifiedMatching +OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:METTL4 semapv:UnspecifiedMatching +OMIM:619626 METTL4 skos:exactMatch ncbigene:64863 semapv:UnspecifiedMatching +OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:29273 semapv:UnspecifiedMatching +OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:HEATR5B semapv:UnspecifiedMatching +OMIM:619627 HEATR5B skos:exactMatch ncbigene:54497 semapv:UnspecifiedMatching +OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:25951 semapv:UnspecifiedMatching +OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:AFTPH semapv:UnspecifiedMatching +OMIM:619628 AFTPH skos:exactMatch ncbigene:54812 semapv:UnspecifiedMatching +OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:30240 semapv:UnspecifiedMatching +OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:SNRNP27 semapv:UnspecifiedMatching +OMIM:619629 SNRNP27 skos:exactMatch ncbigene:11017 semapv:UnspecifiedMatching +OMIM:619630 immunodeficiency 88 skos:exactMatch MONDO:0030483 semapv:UnspecifiedMatching +OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:30852 semapv:UnspecifiedMatching +OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:SNRNP35 semapv:UnspecifiedMatching +OMIM:619631 SNRNP35 skos:exactMatch ncbigene:11066 semapv:UnspecifiedMatching +OMIM:619632 immunodeficiency 89 and autoimmunity skos:exactMatch MONDO:0030484 semapv:UnspecifiedMatching +OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:28685 semapv:UnspecifiedMatching +OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:OCIAD2 semapv:UnspecifiedMatching +OMIM:619633 OCIAD2 skos:exactMatch ncbigene:132299 semapv:UnspecifiedMatching +OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:23075 semapv:UnspecifiedMatching +OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:OSGEPL1 semapv:UnspecifiedMatching +OMIM:619634 OSGEPL1 skos:exactMatch ncbigene:64172 semapv:UnspecifiedMatching +OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:20758 semapv:UnspecifiedMatching +OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:ZFYVE19 semapv:UnspecifiedMatching +OMIM:619635 ZFYVE19 skos:exactMatch ncbigene:84936 semapv:UnspecifiedMatching +OMIM:619636 acromesomelic dysplasia 4 skos:exactMatch MONDO:0030553 semapv:UnspecifiedMatching +OMIM:619637 dystonia 32 skos:exactMatch MONDO:0030486 semapv:UnspecifiedMatching +OMIM:619638 spondylometaphyseal dysplasia, pagnamenta iia skos:exactMatch MONDO:0030487 semapv:UnspecifiedMatching +OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay skos:exactMatch MONDO:0859207 semapv:UnspecifiedMatching +OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:22224 semapv:UnspecifiedMatching +OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:KDM7A semapv:UnspecifiedMatching +OMIM:619640 KDM7A skos:exactMatch ncbigene:80853 semapv:UnspecifiedMatching +OMIM:619641 hengel-maroofian-schols syndrome skos:exactMatch MONDO:0859208 semapv:UnspecifiedMatching +OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:16996 semapv:UnspecifiedMatching +OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:TMED2 semapv:UnspecifiedMatching +OMIM:619642 TMED2 skos:exactMatch ncbigene:10959 semapv:UnspecifiedMatching +OMIM:619643 oocyte/zygote/embryo maturation arrest 11 skos:exactMatch MONDO:0030490 semapv:UnspecifiedMatching +OMIM:619644 immunodeficiency 91 and hyperinflammation skos:exactMatch MONDO:0030491 semapv:UnspecifiedMatching +OMIM:619645 spermatogenic failure 59 skos:exactMatch MONDO:0030492 semapv:UnspecifiedMatching +OMIM:619646 spermatogenic failure 60 skos:exactMatch MONDO:0030493 semapv:UnspecifiedMatching +OMIM:619647 dyskinesia with orofacial involvement, autosomal recessive skos:exactMatch MONDO:0030625 semapv:UnspecifiedMatching +OMIM:619648 zaki syndrome skos:exactMatch MONDO:0859209 semapv:UnspecifiedMatching +OMIM:619649 chromosome 16q12 duplication syndrome skos:exactMatch MONDO:0859210 semapv:UnspecifiedMatching +OMIM:619650 VHLL skos:exactMatch hgnc.symbol:30666 semapv:UnspecifiedMatching +OMIM:619650 VHLL skos:exactMatch hgnc.symbol:VHLL semapv:UnspecifiedMatching +OMIM:619650 VHLL skos:exactMatch ncbigene:391104 semapv:UnspecifiedMatching +OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia skos:exactMatch MONDO:0859211 semapv:UnspecifiedMatching +OMIM:619652 immunodeficiency 92 skos:exactMatch MONDO:0030498 semapv:UnspecifiedMatching +OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus skos:exactMatch MONDO:0859212 semapv:UnspecifiedMatching +OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:26434 semapv:UnspecifiedMatching +OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:C3orf33 semapv:UnspecifiedMatching +OMIM:619654 C3ORF33 skos:exactMatch ncbigene:285315 semapv:UnspecifiedMatching +OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:17976 semapv:UnspecifiedMatching +OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:RPL10L semapv:UnspecifiedMatching +OMIM:619655 RPL10L skos:exactMatch ncbigene:140801 semapv:UnspecifiedMatching +OMIM:619656 loeys-dietz syndrome 6 skos:exactMatch MONDO:0030500 semapv:UnspecifiedMatching +OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy skos:exactMatch MONDO:0859213 semapv:UnspecifiedMatching +OMIM:619658 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss skos:exactMatch MONDO:0030503 semapv:UnspecifiedMatching +OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:30669 semapv:UnspecifiedMatching +OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:SNAP47 semapv:UnspecifiedMatching +OMIM:619659 SNAP47 skos:exactMatch ncbigene:116841 semapv:UnspecifiedMatching +OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:33624 semapv:UnspecifiedMatching +OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:BCL2L15 semapv:UnspecifiedMatching +OMIM:619660 BCL2L15 skos:exactMatch ncbigene:440603 semapv:UnspecifiedMatching +OMIM:619661 leukoencephalopathy, hereditary diffuse, with spheroids 2 skos:exactMatch MONDO:0030634 semapv:UnspecifiedMatching +OMIM:619662 cholestasis, progressive familial intrahepatic, 8 skos:exactMatch MONDO:0030505 semapv:UnspecifiedMatching +OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:28440 semapv:UnspecifiedMatching +OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:UTP25 semapv:UnspecifiedMatching +OMIM:619663 UTP25 skos:exactMatch ncbigene:27042 semapv:UnspecifiedMatching +OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:24204 semapv:UnspecifiedMatching +OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:EFCAB6 semapv:UnspecifiedMatching +OMIM:619664 EFCAB6 skos:exactMatch ncbigene:64800 semapv:UnspecifiedMatching +OMIM:619665 ovarian dysgenesis 9 skos:exactMatch MONDO:0030506 semapv:UnspecifiedMatching +OMIM:619666 VILL skos:exactMatch hgnc.symbol:30906 semapv:UnspecifiedMatching +OMIM:619666 VILL skos:exactMatch hgnc.symbol:VILL semapv:UnspecifiedMatching +OMIM:619666 VILL skos:exactMatch ncbigene:50853 semapv:UnspecifiedMatching +OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:26055 semapv:UnspecifiedMatching +OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:SLC35F6 semapv:UnspecifiedMatching +OMIM:619667 SLC35F6 skos:exactMatch ncbigene:54978 semapv:UnspecifiedMatching +OMIM:619668 DERA skos:exactMatch hgnc.symbol:24269 semapv:UnspecifiedMatching +OMIM:619668 DERA skos:exactMatch hgnc.symbol:DERA semapv:UnspecifiedMatching +OMIM:619668 DERA skos:exactMatch ncbigene:51071 semapv:UnspecifiedMatching +OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:44654 semapv:UnspecifiedMatching +OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:PIERCE2 semapv:UnspecifiedMatching +OMIM:619669 PIERCE2 skos:exactMatch ncbigene:145788 semapv:UnspecifiedMatching +OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:33775 semapv:UnspecifiedMatching +OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:ALKAL1 semapv:UnspecifiedMatching +OMIM:619670 ALKAL1 skos:exactMatch ncbigene:389658 semapv:UnspecifiedMatching +OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:27683 semapv:UnspecifiedMatching +OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:ALKAL2 semapv:UnspecifiedMatching +OMIM:619671 ALKAL2 skos:exactMatch ncbigene:285016 semapv:UnspecifiedMatching +OMIM:619672 spermatogenic failure 61 skos:exactMatch MONDO:0030507 semapv:UnspecifiedMatching +OMIM:619673 spermatogenic failure 62 skos:exactMatch MONDO:0030508 semapv:UnspecifiedMatching +OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:16047 semapv:UnspecifiedMatching +OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:PRADC1 semapv:UnspecifiedMatching +OMIM:619674 PRADC1 skos:exactMatch ncbigene:84279 semapv:UnspecifiedMatching +OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:17777 semapv:UnspecifiedMatching +OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:UBOX5 semapv:UnspecifiedMatching +OMIM:619675 UBOX5 skos:exactMatch ncbigene:22888 semapv:UnspecifiedMatching +OMIM:619676 TEX37 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching +OMIM:619676 TEX37 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching +OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:1322 semapv:UnspecifiedMatching +OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:CLDND1 semapv:UnspecifiedMatching +OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching +OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:18589 semapv:UnspecifiedMatching +OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:C22orf23 semapv:UnspecifiedMatching +OMIM:619678 C22ORF23 skos:exactMatch ncbigene:84645 semapv:UnspecifiedMatching +OMIM:619679 TSACC skos:exactMatch hgnc.symbol:30636 semapv:UnspecifiedMatching +OMIM:619679 TSACC skos:exactMatch hgnc.symbol:TSACC semapv:UnspecifiedMatching +OMIM:619679 TSACC skos:exactMatch ncbigene:128229 semapv:UnspecifiedMatching +OMIM:619680 marbach-schaaf neurodevelopmental syndrome skos:exactMatch MONDO:0859214 semapv:UnspecifiedMatching +OMIM:619681 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch MONDO:0859215 semapv:UnspecifiedMatching +OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:24090 semapv:UnspecifiedMatching +OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:ATRAID semapv:UnspecifiedMatching +OMIM:619682 ATRAID skos:exactMatch ncbigene:51374 semapv:UnspecifiedMatching +OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:18232 semapv:UnspecifiedMatching +OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:BSPRY semapv:UnspecifiedMatching +OMIM:619683 BSPRY skos:exactMatch ncbigene:54836 semapv:UnspecifiedMatching +OMIM:619684 MGARP skos:exactMatch hgnc.symbol:29969 semapv:UnspecifiedMatching +OMIM:619684 MGARP skos:exactMatch hgnc.symbol:MGARP semapv:UnspecifiedMatching +OMIM:619684 MGARP skos:exactMatch ncbigene:84709 semapv:UnspecifiedMatching +OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis skos:exactMatch MONDO:0859216 semapv:UnspecifiedMatching +OMIM:619686 spastic paraplegia 85, autosomal recessive skos:exactMatch MONDO:0030512 semapv:UnspecifiedMatching +OMIM:619687 dystonia 33 skos:exactMatch MONDO:0030513 semapv:UnspecifiedMatching +OMIM:619688 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy skos:exactMatch MONDO:0030514 semapv:UnspecifiedMatching +OMIM:619689 spermatogenic failure 63 skos:exactMatch MONDO:0030515 semapv:UnspecifiedMatching +OMIM:619690 brunet-wagner neurodevelopmental syndrome skos:exactMatch MONDO:0859217 semapv:UnspecifiedMatching +OMIM:619691 trichothiodystrophy 8, nonphotosensitive skos:exactMatch MONDO:0030517 semapv:UnspecifiedMatching +OMIM:619692 trichothiodystrophy 9, nonphotosensitive skos:exactMatch MONDO:0030518 semapv:UnspecifiedMatching +OMIM:619693 agammaglobulinemia 9, autosomal recessive skos:exactMatch MONDO:0030519 semapv:UnspecifiedMatching +OMIM:619694 developmental delay with variable neurologic and brain abnormalities skos:exactMatch MONDO:0859218 semapv:UnspecifiedMatching +OMIM:619695 rauch-steindl syndrome skos:exactMatch MONDO:0859219 semapv:UnspecifiedMatching +OMIM:619696 spermatogenic failure 64 skos:exactMatch MONDO:0030522 semapv:UnspecifiedMatching +OMIM:619697 oocyte/zygote/embryo maturation arrest 12 skos:exactMatch MONDO:0030523 semapv:UnspecifiedMatching +OMIM:619698 mucopolysaccharidosis, iia 10 skos:exactMatch MONDO:0030524 semapv:UnspecifiedMatching +OMIM:619699 ferguson-bonni neurodevelopmental syndrome skos:exactMatch MONDO:0859220 semapv:UnspecifiedMatching +OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:26730 semapv:UnspecifiedMatching +OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:C1orf127 semapv:UnspecifiedMatching +OMIM:619700 C1ORF127 skos:exactMatch ncbigene:148345 semapv:UnspecifiedMatching +OMIM:619701 yoon-bellen neurodevelopmental syndrome skos:exactMatch MONDO:0859221 semapv:UnspecifiedMatching +OMIM:619702 heterotaxy, visceral, 12, autosomal skos:exactMatch MONDO:0859222 semapv:UnspecifiedMatching +OMIM:619703 CIROP skos:exactMatch hgnc.symbol:53647 semapv:UnspecifiedMatching +OMIM:619703 CIROP skos:exactMatch hgnc.symbol:CIROP semapv:UnspecifiedMatching +OMIM:619703 CIROP skos:exactMatch ncbigene:100128908 semapv:UnspecifiedMatching +OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:29528 semapv:UnspecifiedMatching +OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:ZC3H15 semapv:UnspecifiedMatching +OMIM:619704 ZC3H15 skos:exactMatch ncbigene:55854 semapv:UnspecifiedMatching +OMIM:619705 immunodeficiency 93 and hypertrophic cardiomyopathy skos:exactMatch MONDO:0030528 semapv:UnspecifiedMatching +OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:16208 semapv:UnspecifiedMatching +OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:LRRN4 semapv:UnspecifiedMatching +OMIM:619706 LRRN4 skos:exactMatch ncbigene:164312 semapv:UnspecifiedMatching +OMIM:619707 agammaglobulinemia 10, autosomal dominant skos:exactMatch MONDO:0030529 semapv:UnspecifiedMatching +OMIM:619708 gastrointestinal defects and immunodeficiency syndrome 2 skos:exactMatch MONDO:0030669 semapv:UnspecifiedMatching +OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:1314 semapv:UnspecifiedMatching +OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:KIAA0930 semapv:UnspecifiedMatching +OMIM:619709 KIAA0930 skos:exactMatch ncbigene:23313 semapv:UnspecifiedMatching +OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:31357 semapv:UnspecifiedMatching +OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:HAPLN4 semapv:UnspecifiedMatching +OMIM:619710 HAPLN4 skos:exactMatch ncbigene:404037 semapv:UnspecifiedMatching +OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:16668 semapv:UnspecifiedMatching +OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:C19orf33 semapv:UnspecifiedMatching +OMIM:619711 C19ORF33 skos:exactMatch ncbigene:64073 semapv:UnspecifiedMatching +OMIM:619712 spermatogenic failure 65 skos:exactMatch MONDO:0030531 semapv:UnspecifiedMatching +OMIM:619713 CDHR2 skos:exactMatch hgnc.symbol:18231 semapv:UnspecifiedMatching +OMIM:619713 CDHR2 skos:exactMatch hgnc.symbol:CDHR2 semapv:UnspecifiedMatching +OMIM:619713 CDHR2 skos:exactMatch ncbigene:54825 semapv:UnspecifiedMatching +OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant skos:exactMatch MONDO:0859223 semapv:UnspecifiedMatching +OMIM:619715 WIZ skos:exactMatch hgnc.symbol:30917 semapv:UnspecifiedMatching +OMIM:619715 WIZ skos:exactMatch hgnc.symbol:WIZ semapv:UnspecifiedMatching +OMIM:619715 WIZ skos:exactMatch ncbigene:58525 semapv:UnspecifiedMatching +OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:14672 semapv:UnspecifiedMatching +OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:ACTR8 semapv:UnspecifiedMatching +OMIM:619716 ACTR8 skos:exactMatch ncbigene:93973 semapv:UnspecifiedMatching +OMIM:619717 intellectual developmental disorder, autosomal recessive 73 skos:exactMatch MONDO:0030533 semapv:UnspecifiedMatching +OMIM:619718 hypogonadotropic hypogonadism 26 with or without anosmia skos:exactMatch MONDO:0030534 semapv:UnspecifiedMatching +OMIM:619719 intellectual disability and myopathy syndrome skos:exactMatch MONDO:0859224 semapv:UnspecifiedMatching +OMIM:619720 bryant-li-bhoj neurodevelopmental syndrome 1 skos:exactMatch MONDO:0030606 semapv:UnspecifiedMatching +OMIM:619721 bryant-li-bhoj neurodevelopmental syndrome 2 skos:exactMatch MONDO:0030607 semapv:UnspecifiedMatching +OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:26186 semapv:UnspecifiedMatching +OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:TMEM53 semapv:UnspecifiedMatching +OMIM:619722 TMEM53 skos:exactMatch ncbigene:79639 semapv:UnspecifiedMatching +OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:29507 semapv:UnspecifiedMatching +OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:SCPEP1 semapv:UnspecifiedMatching +OMIM:619723 SCPEP1 skos:exactMatch ncbigene:59342 semapv:UnspecifiedMatching +OMIM:619724 dystonia 34, myoclonic skos:exactMatch MONDO:0030538 semapv:UnspecifiedMatching +OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities skos:exactMatch MONDO:0859225 semapv:UnspecifiedMatching +OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:17410 semapv:UnspecifiedMatching +OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:HAPLN2 semapv:UnspecifiedMatching +OMIM:619726 HAPLN2 skos:exactMatch ncbigene:60484 semapv:UnspecifiedMatching +OMIM:619727 craniotubular dysplasia, ikegawa iia skos:exactMatch MONDO:0859226 semapv:UnspecifiedMatching +OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:20154 semapv:UnspecifiedMatching +OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:ABHD4 semapv:UnspecifiedMatching +OMIM:619728 ABHD4 skos:exactMatch ncbigene:63874 semapv:UnspecifiedMatching +OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:24025 semapv:UnspecifiedMatching +OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:ACTR6 semapv:UnspecifiedMatching +OMIM:619729 ACTR6 skos:exactMatch ncbigene:64431 semapv:UnspecifiedMatching +OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:14671 semapv:UnspecifiedMatching +OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:ACTR5 semapv:UnspecifiedMatching +OMIM:619730 ACTR5 skos:exactMatch ncbigene:79913 semapv:UnspecifiedMatching +OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:17372 semapv:UnspecifiedMatching +OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:ACTR10 semapv:UnspecifiedMatching +OMIM:619731 ACTR10 skos:exactMatch ncbigene:55860 semapv:UnspecifiedMatching +OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:26303 semapv:UnspecifiedMatching +OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:PXYLP1 semapv:UnspecifiedMatching +OMIM:619732 PXYLP1 skos:exactMatch ncbigene:92370 semapv:UnspecifiedMatching +OMIM:619733 inclusion body myopathy and brain white matter abnormalities skos:exactMatch MONDO:0850514 semapv:UnspecifiedMatching +OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:17572 semapv:UnspecifiedMatching +OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:EPDR1 semapv:UnspecifiedMatching +OMIM:619734 EPDR1 skos:exactMatch ncbigene:54749 semapv:UnspecifiedMatching +OMIM:619735 spastic paraplegia 86, autosomal recessive skos:exactMatch MONDO:0030673 semapv:UnspecifiedMatching +OMIM:619736 teebi hypertelorism syndrome 2 skos:exactMatch MONDO:0030674 semapv:UnspecifiedMatching +OMIM:619737 combined oxidative phosphorylation deficiency 54 skos:exactMatch MONDO:0030543 semapv:UnspecifiedMatching +OMIM:619738 parkinsonism-dystonia 3, childhood-onset skos:exactMatch MONDO:0030676 semapv:UnspecifiedMatching +OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:24910 semapv:UnspecifiedMatching +OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:ASNSD1 semapv:UnspecifiedMatching +OMIM:619739 ASNSD1 skos:exactMatch ncbigene:54529 semapv:UnspecifiedMatching +OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:53619 semapv:UnspecifiedMatching +OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:ASDURF semapv:UnspecifiedMatching +OMIM:619740 ASDURF skos:exactMatch ncbigene:110599588 semapv:UnspecifiedMatching +OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:28046 semapv:UnspecifiedMatching +OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:ZMAT5 semapv:UnspecifiedMatching +OMIM:619741 ZMAT5 skos:exactMatch ncbigene:55954 semapv:UnspecifiedMatching +OMIM:619742 charcot-marie-tooth disease, demyelinating, iia 1i skos:exactMatch MONDO:0030677 semapv:UnspecifiedMatching +OMIM:619743 combined oxidative phosphorylation deficiency 55 skos:exactMatch MONDO:0859228 semapv:UnspecifiedMatching +OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:30246 semapv:UnspecifiedMatching +OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:ZCCHC17 semapv:UnspecifiedMatching +OMIM:619744 ZCCHC17 skos:exactMatch ncbigene:51538 semapv:UnspecifiedMatching +OMIM:619745 noonan syndrome 14 skos:exactMatch MONDO:0030679 semapv:UnspecifiedMatching +OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:29913 semapv:UnspecifiedMatching +OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:ZC3HC1 semapv:UnspecifiedMatching +OMIM:619746 ZC3HC1 skos:exactMatch ncbigene:51530 semapv:UnspecifiedMatching +OMIM:619747 cardiomyopathy, dilated, 2f skos:exactMatch MONDO:0030680 semapv:UnspecifiedMatching +OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:17200 semapv:UnspecifiedMatching +OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:LRRN3 semapv:UnspecifiedMatching +OMIM:619748 LRRN3 skos:exactMatch ncbigene:54674 semapv:UnspecifiedMatching +OMIM:619749 VEZT skos:exactMatch hgnc.symbol:18258 semapv:UnspecifiedMatching +OMIM:619749 VEZT skos:exactMatch hgnc.symbol:VEZT semapv:UnspecifiedMatching +OMIM:619749 VEZT skos:exactMatch ncbigene:55591 semapv:UnspecifiedMatching +OMIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies skos:exactMatch MONDO:0030681 semapv:UnspecifiedMatching +OMIM:619751 stuve-wiedemann syndrome 2 skos:exactMatch MONDO:0030756 semapv:UnspecifiedMatching +OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections skos:exactMatch MONDO:0800131 semapv:UnspecifiedMatching +OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:30258 semapv:UnspecifiedMatching +OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:PYM1 semapv:UnspecifiedMatching +OMIM:619753 PYM1 skos:exactMatch ncbigene:84305 semapv:UnspecifiedMatching +OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:26825 semapv:UnspecifiedMatching +OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:YIPF7 semapv:UnspecifiedMatching +OMIM:619754 YIPF7 skos:exactMatch ncbigene:285525 semapv:UnspecifiedMatching +OMIM:619755 hypogonadotropic hypogonadism 27 without anosmia skos:exactMatch MONDO:0030684 semapv:UnspecifiedMatching +OMIM:619756 UBE2J2 skos:exactMatch hgnc.symbol:19268 semapv:UnspecifiedMatching +OMIM:619756 UBE2J2 skos:exactMatch hgnc.symbol:UBE2J2 semapv:UnspecifiedMatching +OMIM:619756 UBE2J2 skos:exactMatch ncbigene:118424 semapv:UnspecifiedMatching +OMIM:619757 ASB15 skos:exactMatch hgnc.symbol:19767 semapv:UnspecifiedMatching +OMIM:619757 ASB15 skos:exactMatch hgnc.symbol:ASB15 semapv:UnspecifiedMatching +OMIM:619757 ASB15 skos:exactMatch ncbigene:142685 semapv:UnspecifiedMatching +OMIM:619758 tessadori-bicknell-van haaften neurodevelopmental syndrome 1 skos:exactMatch MONDO:0030729 semapv:UnspecifiedMatching +OMIM:619759 tessadori-bicknell-van haaften neurodevelopmental syndrome 2 skos:exactMatch MONDO:0030730 semapv:UnspecifiedMatching +OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:29452 semapv:UnspecifiedMatching +OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:ATP23 semapv:UnspecifiedMatching +OMIM:619760 ATP23 skos:exactMatch ncbigene:91419 semapv:UnspecifiedMatching +OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism skos:exactMatch MONDO:0859229 semapv:UnspecifiedMatching +OMIM:619762 kury-isidor syndrome skos:exactMatch MONDO:0859230 semapv:UnspecifiedMatching +OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:29175 semapv:UnspecifiedMatching +OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:WDTC1 semapv:UnspecifiedMatching +OMIM:619763 WDTC1 skos:exactMatch ncbigene:23038 semapv:UnspecifiedMatching +OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h skos:exactMatch MONDO:0030689 semapv:UnspecifiedMatching +OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:17295 semapv:UnspecifiedMatching +OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:CRYBG2 semapv:UnspecifiedMatching +OMIM:619765 CRYBG2 skos:exactMatch ncbigene:55057 semapv:UnspecifiedMatching +OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:17798 semapv:UnspecifiedMatching +OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:YLPM1 semapv:UnspecifiedMatching +OMIM:619766 YLPM1 skos:exactMatch ncbigene:56252 semapv:UnspecifiedMatching +OMIM:619767 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 skos:exactMatch MONDO:0030690 semapv:UnspecifiedMatching +OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:28633 semapv:UnspecifiedMatching +OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:ARRDC1 semapv:UnspecifiedMatching +OMIM:619768 ARRDC1 skos:exactMatch ncbigene:92714 semapv:UnspecifiedMatching +OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin skos:exactMatch MONDO:0859231 semapv:UnspecifiedMatching +OMIM:619770 YDJC skos:exactMatch hgnc.symbol:27158 semapv:UnspecifiedMatching +OMIM:619770 YDJC skos:exactMatch hgnc.symbol:YDJC semapv:UnspecifiedMatching +OMIM:619770 YDJC skos:exactMatch ncbigene:150223 semapv:UnspecifiedMatching +OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:18996 semapv:UnspecifiedMatching +OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:VRK3 semapv:UnspecifiedMatching +OMIM:619771 VRK3 skos:exactMatch ncbigene:51231 semapv:UnspecifiedMatching +OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:25687 semapv:UnspecifiedMatching +OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:PAAF1 semapv:UnspecifiedMatching +OMIM:619772 PAAF1 skos:exactMatch ncbigene:80227 semapv:UnspecifiedMatching +OMIM:619773 immunodeficiency 95 skos:exactMatch MONDO:0030692 semapv:UnspecifiedMatching +OMIM:619774 immunodeficiency 96 skos:exactMatch MONDO:0030693 semapv:UnspecifiedMatching +OMIM:619775 congenital disorder of deglycosylation 2 skos:exactMatch MONDO:0030770 semapv:UnspecifiedMatching +OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:14438 semapv:UnspecifiedMatching +OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:C2CD6 semapv:UnspecifiedMatching +OMIM:619776 C2CD6 skos:exactMatch ncbigene:151254 semapv:UnspecifiedMatching +OMIM:619777 developmental and epileptic encephalopathy 100 skos:exactMatch MONDO:0030695 semapv:UnspecifiedMatching +OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:26752 semapv:UnspecifiedMatching +OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:ANKRD42 semapv:UnspecifiedMatching +OMIM:619778 ANKRD42 skos:exactMatch ncbigene:338699 semapv:UnspecifiedMatching +OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:28141 semapv:UnspecifiedMatching +OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:AFAP1-AS1 semapv:UnspecifiedMatching +OMIM:619779 AFAP1AS1 skos:exactMatch ncbigene:84740 semapv:UnspecifiedMatching +OMIM:619780 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch MONDO:0030696 semapv:UnspecifiedMatching +OMIM:619781 myopia 28, autosomal recessive skos:exactMatch MONDO:0030697 semapv:UnspecifiedMatching +OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:22135 semapv:UnspecifiedMatching +OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:SPACDR semapv:UnspecifiedMatching +OMIM:619782 SPACDR skos:exactMatch ncbigene:402573 semapv:UnspecifiedMatching +OMIM:619783 epidermolysis bullosa, junctional 2a, intermediate skos:exactMatch MONDO:0030746 semapv:UnspecifiedMatching +OMIM:619784 epidermolysis bullosa, junctional 2b, severe skos:exactMatch MONDO:0030747 semapv:UnspecifiedMatching +OMIM:619785 epidermolysis bullosa, junctional 3a, intermediate skos:exactMatch MONDO:0030748 semapv:UnspecifiedMatching +OMIM:619786 epidermolysis bullosa, junctional 3b, severe skos:exactMatch MONDO:0030749 semapv:UnspecifiedMatching +OMIM:619787 epidermolysis bullosa, junctional 4, intermediate skos:exactMatch MONDO:0030750 semapv:UnspecifiedMatching +OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:28087 semapv:UnspecifiedMatching +OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:ARRDC4 semapv:UnspecifiedMatching +OMIM:619788 ARRDC4 skos:exactMatch ncbigene:91947 semapv:UnspecifiedMatching +OMIM:619789 anemia, congenital dyserythropoietic, iia iiib, autosomal recessive skos:exactMatch MONDO:0030711 semapv:UnspecifiedMatching +OMIM:619790 oculopharyngodistal myopathy 4 skos:exactMatch MONDO:0030712 semapv:UnspecifiedMatching +OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:13543 semapv:UnspecifiedMatching +OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:ATP10B semapv:UnspecifiedMatching +OMIM:619791 ATP10B skos:exactMatch ncbigene:23120 semapv:UnspecifiedMatching +OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:848 semapv:UnspecifiedMatching +OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:ATP5MF semapv:UnspecifiedMatching +OMIM:619792 ATP5MF skos:exactMatch ncbigene:9551 semapv:UnspecifiedMatching +OMIM:619793 restrictive dermopathy 2 skos:exactMatch MONDO:0030781 semapv:UnspecifiedMatching +OMIM:619794 VWC2L skos:exactMatch hgnc.symbol:37203 semapv:UnspecifiedMatching +OMIM:619794 VWC2L skos:exactMatch hgnc.symbol:VWC2L semapv:UnspecifiedMatching +OMIM:619794 VWC2L skos:exactMatch ncbigene:402117 semapv:UnspecifiedMatching +OMIM:619795 osteogenesis imperfecta, iia 22 skos:exactMatch MONDO:0030714 semapv:UnspecifiedMatching +OMIM:619796 FLACC1 skos:exactMatch hgnc.symbol:14439 semapv:UnspecifiedMatching +OMIM:619796 FLACC1 skos:exactMatch hgnc.symbol:FLACC1 semapv:UnspecifiedMatching +OMIM:619796 FLACC1 skos:exactMatch ncbigene:130540 semapv:UnspecifiedMatching +OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies skos:exactMatch MONDO:0859232 semapv:UnspecifiedMatching +OMIM:619798 ELF2 skos:exactMatch hgnc.symbol:3317 semapv:UnspecifiedMatching +OMIM:619798 ELF2 skos:exactMatch hgnc.symbol:ELF2 semapv:UnspecifiedMatching +OMIM:619798 ELF2 skos:exactMatch ncbigene:1998 semapv:UnspecifiedMatching +OMIM:619799 spermatogenic failure 66 skos:exactMatch MONDO:0030716 semapv:UnspecifiedMatching +OMIM:619800 HMGXB3 skos:exactMatch hgnc.symbol:28982 semapv:UnspecifiedMatching +OMIM:619800 HMGXB3 skos:exactMatch hgnc.symbol:HMGXB3 semapv:UnspecifiedMatching +OMIM:619800 HMGXB3 skos:exactMatch ncbigene:22993 semapv:UnspecifiedMatching +OMIM:619801 POLR3H skos:exactMatch hgnc.symbol:30349 semapv:UnspecifiedMatching +OMIM:619801 POLR3H skos:exactMatch hgnc.symbol:POLR3H semapv:UnspecifiedMatching +OMIM:619801 POLR3H skos:exactMatch ncbigene:171568 semapv:UnspecifiedMatching +OMIM:619802 immunodeficiency 97 with autoinflammation skos:exactMatch MONDO:0030717 semapv:UnspecifiedMatching +OMIM:619803 spermatogenic failure 67 skos:exactMatch MONDO:0030718 semapv:UnspecifiedMatching +OMIM:619804 deafness, autosomal dominant 82 skos:exactMatch MONDO:0030719 semapv:UnspecifiedMatching +OMIM:619805 spermatogenic failure 68 skos:exactMatch MONDO:0030721 semapv:UnspecifiedMatching +OMIM:619806 spinocerebellar ataxia 49 skos:exactMatch MONDO:0030805 semapv:UnspecifiedMatching +OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:30434 semapv:UnspecifiedMatching +OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:MYBPHL semapv:UnspecifiedMatching +OMIM:619807 MYBPHL skos:exactMatch ncbigene:343263 semapv:UnspecifiedMatching +OMIM:619808 deafness, autosomal dominant 83 skos:exactMatch MONDO:0030723 semapv:UnspecifiedMatching +OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:28183 semapv:UnspecifiedMatching +OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:UGT2A2 semapv:UnspecifiedMatching +OMIM:619809 UGT2A2 skos:exactMatch ncbigene:574537 semapv:UnspecifiedMatching +OMIM:619810 deafness, autosomal dominant 84 skos:exactMatch MONDO:0030724 semapv:UnspecifiedMatching +OMIM:619811 UHRF1BP1L skos:exactMatch hgnc.symbol:BLTP3B semapv:UnspecifiedMatching +OMIM:619811 UHRF1BP1L skos:exactMatch ncbigene:23074 semapv:UnspecifiedMatching +OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant skos:exactMatch MONDO:0030726 semapv:UnspecifiedMatching +OMIM:619814 developmental and epileptic encephalopathy 101 skos:exactMatch MONDO:0030727 semapv:UnspecifiedMatching +OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:13549 semapv:UnspecifiedMatching +OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:ATP10D semapv:UnspecifiedMatching +OMIM:619815 ATP10D skos:exactMatch ncbigene:57205 semapv:UnspecifiedMatching +OMIM:619816 epidermolysis bullosa, junctional 5a, intermediate skos:exactMatch MONDO:0030768 semapv:UnspecifiedMatching +OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia skos:exactMatch MONDO:0859233 semapv:UnspecifiedMatching +OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:28691 semapv:UnspecifiedMatching +OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:ELOF1 semapv:UnspecifiedMatching +OMIM:619818 ELOF1 skos:exactMatch ncbigene:84337 semapv:UnspecifiedMatching +OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:30959 semapv:UnspecifiedMatching +OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:ZC3H7A semapv:UnspecifiedMatching +OMIM:619819 ZC3H7A skos:exactMatch ncbigene:29066 semapv:UnspecifiedMatching +OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:24126 semapv:UnspecifiedMatching +OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:ATOH8 semapv:UnspecifiedMatching +OMIM:619820 ATOH8 skos:exactMatch ncbigene:84913 semapv:UnspecifiedMatching +OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:26640 semapv:UnspecifiedMatching +OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:ENDOV semapv:UnspecifiedMatching +OMIM:619821 ENDOV skos:exactMatch ncbigene:284131 semapv:UnspecifiedMatching +OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:17164 semapv:UnspecifiedMatching +OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:BCL2L13 semapv:UnspecifiedMatching +OMIM:619822 BCL2L13 skos:exactMatch ncbigene:23786 semapv:UnspecifiedMatching +OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:16677 semapv:UnspecifiedMatching +OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:ANP32B semapv:UnspecifiedMatching +OMIM:619823 ANP32B skos:exactMatch ncbigene:10541 semapv:UnspecifiedMatching +OMIM:619824 agammaglobulinemia 8b, autosomal recessive skos:exactMatch MONDO:0859234 semapv:UnspecifiedMatching +OMIM:619825 aortic aneurysm, familial thoracic 12 skos:exactMatch MONDO:0030731 semapv:UnspecifiedMatching +OMIM:619826 spermatogenic failure 69 skos:exactMatch MONDO:0030732 semapv:UnspecifiedMatching +OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch MONDO:0030785 semapv:UnspecifiedMatching +OMIM:619828 spermatogenic failure 70 skos:exactMatch MONDO:0030733 semapv:UnspecifiedMatching +OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:29296 semapv:UnspecifiedMatching +OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:CCDC146 semapv:UnspecifiedMatching +OMIM:619829 CCDC146 skos:exactMatch ncbigene:57639 semapv:UnspecifiedMatching +OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:33185 semapv:UnspecifiedMatching +OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:DBX1 semapv:UnspecifiedMatching +OMIM:619830 DBX1 skos:exactMatch ncbigene:120237 semapv:UnspecifiedMatching +OMIM:619831 spermatogenic failure 71 skos:exactMatch MONDO:0030787 semapv:UnspecifiedMatching +OMIM:619832 auditory neuropathy, autosomal dominant 3 skos:exactMatch MONDO:0859235 semapv:UnspecifiedMatching +OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities skos:exactMatch MONDO:0859236 semapv:UnspecifiedMatching +OMIM:619834 ovarian dysgenesis 10 skos:exactMatch MONDO:0030736 semapv:UnspecifiedMatching +OMIM:619835 3-methylglutaconic aciduria, iia 7a skos:exactMatch MONDO:0859237 semapv:UnspecifiedMatching +OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate skos:exactMatch MONDO:0859238 semapv:UnspecifiedMatching +OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:17841 semapv:UnspecifiedMatching +OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:MORN5 semapv:UnspecifiedMatching +OMIM:619837 MORN5 skos:exactMatch ncbigene:254956 semapv:UnspecifiedMatching +OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:16118 semapv:UnspecifiedMatching +OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:TTLL9 semapv:UnspecifiedMatching +OMIM:619838 TTLL9 skos:exactMatch ncbigene:164395 semapv:UnspecifiedMatching +OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:28605 semapv:UnspecifiedMatching +OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:SNX31 semapv:UnspecifiedMatching +OMIM:619839 SNX31 skos:exactMatch ncbigene:169166 semapv:UnspecifiedMatching +OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch MONDO:0030827 semapv:UnspecifiedMatching +OMIM:619841 chilton-okur-chung neurodevelopmental syndrome skos:exactMatch MONDO:0859239 semapv:UnspecifiedMatching +OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:25836 semapv:UnspecifiedMatching +OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:RIPOR1 semapv:UnspecifiedMatching +OMIM:619842 RIPOR1 skos:exactMatch ncbigene:79567 semapv:UnspecifiedMatching +OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:29044 semapv:UnspecifiedMatching +OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:DENND4B semapv:UnspecifiedMatching +OMIM:619843 DENND4B skos:exactMatch ncbigene:9909 semapv:UnspecifiedMatching +OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch MONDO:0859240 semapv:UnspecifiedMatching +OMIM:619845 retinitis pigmentosa 93 skos:exactMatch MONDO:0030797 semapv:UnspecifiedMatching +OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch MONDO:0030798 semapv:UnspecifiedMatching +OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly skos:exactMatch MONDO:0859241 semapv:UnspecifiedMatching +OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:25546 semapv:UnspecifiedMatching +OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:TBCCD1 semapv:UnspecifiedMatching +OMIM:619848 TBCCD1 skos:exactMatch ncbigene:55171 semapv:UnspecifiedMatching +OMIM:619849 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch MONDO:0030800 semapv:UnspecifiedMatching +OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:30005 semapv:UnspecifiedMatching +OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:A3GALT2 semapv:UnspecifiedMatching +OMIM:619850 A3GALT2 skos:exactMatch ncbigene:127550 semapv:UnspecifiedMatching +OMIM:619851 leukodystrophy, hypomyelinating, 24 skos:exactMatch MONDO:0859242 semapv:UnspecifiedMatching +OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:26541 semapv:UnspecifiedMatching +OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:GARIN4 semapv:UnspecifiedMatching +OMIM:619852 GARIN4 skos:exactMatch ncbigene:149647 semapv:UnspecifiedMatching +OMIM:619853 FAXDC2 skos:exactMatch hgnc.symbol:1334 semapv:UnspecifiedMatching +OMIM:619853 FAXDC2 skos:exactMatch hgnc.symbol:FAXDC2 semapv:UnspecifiedMatching +OMIM:619853 FAXDC2 skos:exactMatch ncbigene:10826 semapv:UnspecifiedMatching +OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities skos:exactMatch MONDO:0859243 semapv:UnspecifiedMatching +OMIM:619855 thyroid hormone metabolism, abnormal, 2 skos:exactMatch MONDO:0030839 semapv:UnspecifiedMatching +OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:29223 semapv:UnspecifiedMatching +OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:ANKRD50 semapv:UnspecifiedMatching +OMIM:619856 ANKRD50 skos:exactMatch ncbigene:57182 semapv:UnspecifiedMatching +OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:17884 semapv:UnspecifiedMatching +OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:SPATA3 semapv:UnspecifiedMatching +OMIM:619857 SPATA3 skos:exactMatch ncbigene:130560 semapv:UnspecifiedMatching +OMIM:619858 autoinflammatory-pancytopenia syndrome skos:exactMatch MONDO:0800132 semapv:UnspecifiedMatching +OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch MONDO:0859244 semapv:UnspecifiedMatching +OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:26539 semapv:UnspecifiedMatching +OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:DCST1 semapv:UnspecifiedMatching +OMIM:619860 DCST1 skos:exactMatch ncbigene:149095 semapv:UnspecifiedMatching +OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:26562 semapv:UnspecifiedMatching +OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:DCST2 semapv:UnspecifiedMatching +OMIM:619861 DCST2 skos:exactMatch ncbigene:127579 semapv:UnspecifiedMatching +OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch MONDO:0859245 semapv:UnspecifiedMatching +OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:20156 semapv:UnspecifiedMatching +OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:JPH4 semapv:UnspecifiedMatching +OMIM:619863 JPH4 skos:exactMatch ncbigene:84502 semapv:UnspecifiedMatching +OMIM:619864 leukodystrophy, childhood-onset, remitting skos:exactMatch MONDO:0859246 semapv:UnspecifiedMatching +OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:21384 semapv:UnspecifiedMatching +OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:TMEM14B semapv:UnspecifiedMatching +OMIM:619865 TMEM14B skos:exactMatch ncbigene:81853 semapv:UnspecifiedMatching +OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:37241 semapv:UnspecifiedMatching +OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:CFAP97D1 semapv:UnspecifiedMatching +OMIM:619866 CFAP97D1 skos:exactMatch ncbigene:284067 semapv:UnspecifiedMatching +OMIM:619867 spermatogenic failure 72 skos:exactMatch MONDO:0030809 semapv:UnspecifiedMatching +OMIM:619868 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch MONDO:0030810 semapv:UnspecifiedMatching +OMIM:619869 neurocardiofaciodigital syndrome skos:exactMatch MONDO:0859247 semapv:UnspecifiedMatching +OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:26282 semapv:UnspecifiedMatching +OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:CCDC82 semapv:UnspecifiedMatching +OMIM:619870 CCDC82 skos:exactMatch ncbigene:79780 semapv:UnspecifiedMatching +OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet skos:exactMatch MONDO:0859248 semapv:UnspecifiedMatching +OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch MONDO:0030813 semapv:UnspecifiedMatching +OMIM:619873 parenti-mignot neurodevelopmental syndrome skos:exactMatch MONDO:0859249 semapv:UnspecifiedMatching +OMIM:619874 cholestasis, progressive familial intrahepatic, 11 skos:exactMatch MONDO:0030815 semapv:UnspecifiedMatching +OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:32934 semapv:UnspecifiedMatching +OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:SLCO1B7 semapv:UnspecifiedMatching +OMIM:619875 SLCO1B7 skos:exactMatch ncbigene:338821 semapv:UnspecifiedMatching +OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures skos:exactMatch MONDO:0859250 semapv:UnspecifiedMatching +OMIM:619877 dentici-novelli neurodevelopmental syndrome skos:exactMatch MONDO:0859251 semapv:UnspecifiedMatching +OMIM:619878 spermatogenic failure 73 skos:exactMatch MONDO:0030818 semapv:UnspecifiedMatching +OMIM:619879 meckel syndrome 14 skos:exactMatch MONDO:0030819 semapv:UnspecifiedMatching +OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies skos:exactMatch MONDO:0859252 semapv:UnspecifiedMatching +OMIM:619881 developmental and epileptic encephalopathy 102 skos:exactMatch MONDO:0030881 semapv:UnspecifiedMatching +OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:26754 semapv:UnspecifiedMatching +OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:TYW5 semapv:UnspecifiedMatching +OMIM:619882 TYW5 skos:exactMatch ncbigene:129450 semapv:UnspecifiedMatching +OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:28397 semapv:UnspecifiedMatching +OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:GARIN3 semapv:UnspecifiedMatching +OMIM:619883 GARIN3 skos:exactMatch ncbigene:153745 semapv:UnspecifiedMatching +OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay skos:exactMatch MONDO:0859253 semapv:UnspecifiedMatching +OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:18657 semapv:UnspecifiedMatching +OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:TTC39A semapv:UnspecifiedMatching +OMIM:619885 TTC39A skos:exactMatch ncbigene:22996 semapv:UnspecifiedMatching +OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:29167 semapv:UnspecifiedMatching +OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:R3HDM2 semapv:UnspecifiedMatching +OMIM:619886 R3HDM2 skos:exactMatch ncbigene:22864 semapv:UnspecifiedMatching +OMIM:619887 renal hypodysplasia/aplasia 4 skos:exactMatch MONDO:0030822 semapv:UnspecifiedMatching +OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:49425 semapv:UnspecifiedMatching +OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:GHET1 semapv:UnspecifiedMatching +OMIM:619888 GHET1 skos:exactMatch ncbigene:102723099 semapv:UnspecifiedMatching +OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:28627 semapv:UnspecifiedMatching +OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:TCP11L2 semapv:UnspecifiedMatching +OMIM:619889 TCP11L2 skos:exactMatch ncbigene:255394 semapv:UnspecifiedMatching +OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:25107 semapv:UnspecifiedMatching +OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:GARIN5A semapv:UnspecifiedMatching +OMIM:619890 GARIN5A skos:exactMatch ncbigene:112703 semapv:UnspecifiedMatching +OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:26924 semapv:UnspecifiedMatching +OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:WDR93 semapv:UnspecifiedMatching +OMIM:619891 WDR93 skos:exactMatch ncbigene:56964 semapv:UnspecifiedMatching +OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:24523 semapv:UnspecifiedMatching +OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:ZZZ3 semapv:UnspecifiedMatching +OMIM:619892 ZZZ3 skos:exactMatch ncbigene:26009 semapv:UnspecifiedMatching +OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:25732 semapv:UnspecifiedMatching +OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:KLHL25 semapv:UnspecifiedMatching +OMIM:619893 KLHL25 skos:exactMatch ncbigene:64410 semapv:UnspecifiedMatching +OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:26971 semapv:UnspecifiedMatching +OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:ABHD15 semapv:UnspecifiedMatching +OMIM:619894 ABHD15 skos:exactMatch ncbigene:116236 semapv:UnspecifiedMatching +OMIM:619895 holoprosencephaly 14 skos:exactMatch MONDO:0030886 semapv:UnspecifiedMatching +OMIM:619896 MATCAP2 skos:exactMatch hgnc.symbol:MATCAP2 semapv:UnspecifiedMatching +OMIM:619896 MATCAP2 skos:exactMatch ncbigene:23366 semapv:UnspecifiedMatching +OMIM:619897 cardiomyopathy, dilated, 2g skos:exactMatch MONDO:0030887 semapv:UnspecifiedMatching +OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:20101 semapv:UnspecifiedMatching +OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:GARIN2 semapv:UnspecifiedMatching +OMIM:619898 GARIN2 skos:exactMatch ncbigene:161142 semapv:UnspecifiedMatching +OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:33877 semapv:UnspecifiedMatching +OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:NALF1 semapv:UnspecifiedMatching +OMIM:619899 NALF1 skos:exactMatch ncbigene:728215 semapv:UnspecifiedMatching +OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:6306 semapv:UnspecifiedMatching +OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:KDELR3 semapv:UnspecifiedMatching +OMIM:619900 KDELR3 skos:exactMatch ncbigene:11015 semapv:UnspecifiedMatching +OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:3249 semapv:UnspecifiedMatching +OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:EIF1 semapv:UnspecifiedMatching +OMIM:619901 EIF1 skos:exactMatch ncbigene:10209 semapv:UnspecifiedMatching +OMIM:619902 hepatorenocardiac degenerative fibrosis skos:exactMatch MONDO:0859254 semapv:UnspecifiedMatching +OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive skos:exactMatch MONDO:0859255 semapv:UnspecifiedMatching +OMIM:619904 GARIN1A skos:exactMatch hgnc.symbol:27998 semapv:UnspecifiedMatching +OMIM:619904 GARIN1A skos:exactMatch hgnc.symbol:GARIN1A semapv:UnspecifiedMatching +OMIM:619904 GARIN1A skos:exactMatch ncbigene:346653 semapv:UnspecifiedMatching +OMIM:619905 GARIN1B skos:exactMatch hgnc.symbol:30704 semapv:UnspecifiedMatching +OMIM:619905 GARIN1B skos:exactMatch hgnc.symbol:GARIN1B semapv:UnspecifiedMatching +OMIM:619905 GARIN1B skos:exactMatch ncbigene:84691 semapv:UnspecifiedMatching +OMIM:619906 DDX39A skos:exactMatch hgnc.symbol:17821 semapv:UnspecifiedMatching +OMIM:619906 DDX39A skos:exactMatch hgnc.symbol:DDX39A semapv:UnspecifiedMatching +OMIM:619906 DDX39A skos:exactMatch ncbigene:10212 semapv:UnspecifiedMatching +OMIM:619907 PHF14 skos:exactMatch hgnc.symbol:22203 semapv:UnspecifiedMatching +OMIM:619907 PHF14 skos:exactMatch hgnc.symbol:PHF14 semapv:UnspecifiedMatching +OMIM:619907 PHF14 skos:exactMatch ncbigene:9678 semapv:UnspecifiedMatching +OMIM:619908 neurodevelopmental disorder with language delay and seizures skos:exactMatch MONDO:0859256 semapv:UnspecifiedMatching +OMIM:619909 pontocerebellar hypoplasia, iia 17 skos:exactMatch MONDO:0030890 semapv:UnspecifiedMatching +OMIM:619910 intellectual developmental disorder, autosomal dominant 66 skos:exactMatch MONDO:0030891 semapv:UnspecifiedMatching +OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism skos:exactMatch MONDO:0859257 semapv:UnspecifiedMatching +OMIM:619912 MYMX skos:exactMatch hgnc.symbol:52391 semapv:UnspecifiedMatching +OMIM:619912 MYMX skos:exactMatch hgnc.symbol:MYMX semapv:UnspecifiedMatching +OMIM:619912 MYMX skos:exactMatch ncbigene:101929726 semapv:UnspecifiedMatching +OMIM:619913 developmental and epileptic encephalopathy 103 skos:exactMatch MONDO:0030957 semapv:UnspecifiedMatching +OMIM:619914 SEL1L3 skos:exactMatch hgnc.symbol:29108 semapv:UnspecifiedMatching +OMIM:619914 SEL1L3 skos:exactMatch hgnc.symbol:SEL1L3 semapv:UnspecifiedMatching +OMIM:619914 SEL1L3 skos:exactMatch ncbigene:23231 semapv:UnspecifiedMatching +OMIM:619915 RBM34 skos:exactMatch hgnc.symbol:28965 semapv:UnspecifiedMatching +OMIM:619915 RBM34 skos:exactMatch hgnc.symbol:RBM34 semapv:UnspecifiedMatching +OMIM:619915 RBM34 skos:exactMatch ncbigene:23029 semapv:UnspecifiedMatching +OMIM:619916 ZNF799 skos:exactMatch hgnc.symbol:28071 semapv:UnspecifiedMatching +OMIM:619916 ZNF799 skos:exactMatch hgnc.symbol:ZNF799 semapv:UnspecifiedMatching +OMIM:619916 ZNF799 skos:exactMatch ncbigene:90576 semapv:UnspecifiedMatching +OMIM:619917 SUSD5 skos:exactMatch hgnc.symbol:29061 semapv:UnspecifiedMatching +OMIM:619917 SUSD5 skos:exactMatch hgnc.symbol:SUSD5 semapv:UnspecifiedMatching +OMIM:619917 SUSD5 skos:exactMatch ncbigene:26032 semapv:UnspecifiedMatching +OMIM:619918 TUBA3E skos:exactMatch hgnc.symbol:20765 semapv:UnspecifiedMatching +OMIM:619918 TUBA3E skos:exactMatch hgnc.symbol:TUBA3E semapv:UnspecifiedMatching +OMIM:619918 TUBA3E skos:exactMatch ncbigene:112714 semapv:UnspecifiedMatching +OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:25968 semapv:UnspecifiedMatching +OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:ARHGEF38 semapv:UnspecifiedMatching +OMIM:619919 ARHGEF38 skos:exactMatch ncbigene:54848 semapv:UnspecifiedMatching +OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:32525 semapv:UnspecifiedMatching +OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:ANKDD1B semapv:UnspecifiedMatching +OMIM:619920 ANKDD1B skos:exactMatch ncbigene:728780 semapv:UnspecifiedMatching +OMIM:619921 dystonia 35, childhood-onset skos:exactMatch MONDO:0030958 semapv:UnspecifiedMatching +OMIM:619922 neurodevelopmental disorder with dystonia and seizures skos:exactMatch MONDO:0859258 semapv:UnspecifiedMatching +OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:20097 semapv:UnspecifiedMatching +OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:PPP1R36 semapv:UnspecifiedMatching +OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching +OMIM:619924 immunodeficiency 105 skos:exactMatch MONDO:0800104 semapv:UnspecifiedMatching +OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:24256 semapv:UnspecifiedMatching +OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:WASHC3 semapv:UnspecifiedMatching +OMIM:619925 WASHC3 skos:exactMatch ncbigene:51019 semapv:UnspecifiedMatching +OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:29120 semapv:UnspecifiedMatching +OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:KLHL18 semapv:UnspecifiedMatching +OMIM:619926 KLHL18 skos:exactMatch ncbigene:23276 semapv:UnspecifiedMatching +OMIM:619927 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch MONDO:0030964 semapv:UnspecifiedMatching +OMIM:619928 PHF24 skos:exactMatch hgnc.symbol:29180 semapv:UnspecifiedMatching +OMIM:619928 PHF24 skos:exactMatch hgnc.symbol:PHF24 semapv:UnspecifiedMatching +OMIM:619928 PHF24 skos:exactMatch ncbigene:23349 semapv:UnspecifiedMatching +OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:30884 semapv:UnspecifiedMatching +OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:TEX2 semapv:UnspecifiedMatching +OMIM:619929 TEX2 skos:exactMatch ncbigene:55852 semapv:UnspecifiedMatching +OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:26433 semapv:UnspecifiedMatching +OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:ZMAT2 semapv:UnspecifiedMatching +OMIM:619930 ZMAT2 skos:exactMatch ncbigene:153527 semapv:UnspecifiedMatching +OMIM:619931 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch MONDO:0030968 semapv:UnspecifiedMatching +OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:21096 semapv:UnspecifiedMatching +OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:GFOD1 semapv:UnspecifiedMatching +OMIM:619932 GFOD1 skos:exactMatch ncbigene:54438 semapv:UnspecifiedMatching +OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:28159 semapv:UnspecifiedMatching +OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:GFOD2 semapv:UnspecifiedMatching +OMIM:619933 GFOD2 skos:exactMatch ncbigene:81577 semapv:UnspecifiedMatching +OMIM:619934 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch MONDO:0030969 semapv:UnspecifiedMatching +OMIM:619935 immunodeficiency 106, susceptibility to viral infections skos:exactMatch MONDO:0030970 semapv:UnspecifiedMatching +OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:19769 semapv:UnspecifiedMatching +OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:ASB17 semapv:UnspecifiedMatching +OMIM:619936 ASB17 skos:exactMatch ncbigene:127247 semapv:UnspecifiedMatching +OMIM:619937 spermatogenic failure 74 skos:exactMatch MONDO:0030972 semapv:UnspecifiedMatching +OMIM:619938 premature ovarian failure 20 skos:exactMatch MONDO:0030975 semapv:UnspecifiedMatching +OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:14735 semapv:UnspecifiedMatching +OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:OR4M1 semapv:UnspecifiedMatching +OMIM:619939 OR4M1 skos:exactMatch ncbigene:441670 semapv:UnspecifiedMatching +OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:25508 semapv:UnspecifiedMatching +OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:XKR8 semapv:UnspecifiedMatching +OMIM:619940 XKR8 skos:exactMatch ncbigene:55113 semapv:UnspecifiedMatching +OMIM:619941 carey-fineman-ziter syndrome 2 skos:exactMatch MONDO:0100292 semapv:UnspecifiedMatching +OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:25294 semapv:UnspecifiedMatching +OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:ZNF541 semapv:UnspecifiedMatching +OMIM:619942 ZNF541 skos:exactMatch ncbigene:84215 semapv:UnspecifiedMatching +OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:24753 semapv:UnspecifiedMatching +OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:KCTD19 semapv:UnspecifiedMatching +OMIM:619943 KCTD19 skos:exactMatch ncbigene:146212 semapv:UnspecifiedMatching +OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:29197 semapv:UnspecifiedMatching +OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:CCSER2 semapv:UnspecifiedMatching +OMIM:619944 CCSER2 skos:exactMatch ncbigene:54462 semapv:UnspecifiedMatching +OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:29235 semapv:UnspecifiedMatching +OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:FAM184B semapv:UnspecifiedMatching +OMIM:619945 FAM184B skos:exactMatch ncbigene:27146 semapv:UnspecifiedMatching +OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:30319 semapv:UnspecifiedMatching +OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:MCF2L2 semapv:UnspecifiedMatching +OMIM:619946 MCF2L2 skos:exactMatch ncbigene:23101 semapv:UnspecifiedMatching +OMIM:619947 waardenburg syndrome, iia 2f skos:exactMatch MONDO:0030983 semapv:UnspecifiedMatching +OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:21204 semapv:UnspecifiedMatching +OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:IPCEF1 semapv:UnspecifiedMatching +OMIM:619948 IPCEF1 skos:exactMatch ncbigene:26034 semapv:UnspecifiedMatching +OMIM:619949 spermatogenic failure 75 skos:exactMatch MONDO:0030984 semapv:UnspecifiedMatching +OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 skos:exactMatch MONDO:0030993 semapv:UnspecifiedMatching +OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 skos:exactMatch MONDO:0031000 semapv:UnspecifiedMatching +OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:17735 semapv:UnspecifiedMatching +OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:TMEM63B semapv:UnspecifiedMatching +OMIM:619952 TMEM63B skos:exactMatch ncbigene:55362 semapv:UnspecifiedMatching +OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:23787 semapv:UnspecifiedMatching +OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:TMEM63C semapv:UnspecifiedMatching +OMIM:619953 TMEM63C skos:exactMatch ncbigene:57156 semapv:UnspecifiedMatching +OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:37236 semapv:UnspecifiedMatching +OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:SYCE1L semapv:UnspecifiedMatching +OMIM:619954 SYCE1L skos:exactMatch ncbigene:100130958 semapv:UnspecifiedMatching +OMIM:619955 dworschak-punetha neurodevelopmental syndrome skos:exactMatch MONDO:0859260 semapv:UnspecifiedMatching +OMIM:619956 PYURF skos:exactMatch hgnc.symbol:44317 semapv:UnspecifiedMatching +OMIM:619956 PYURF skos:exactMatch hgnc.symbol:PYURF semapv:UnspecifiedMatching +OMIM:619956 PYURF skos:exactMatch ncbigene:100996939 semapv:UnspecifiedMatching +OMIM:619957 attention deficit-hyperactivity disorder 8 skos:exactMatch MONDO:0859261 semapv:UnspecifiedMatching +OMIM:619958 GLMP skos:exactMatch hgnc.symbol:29436 semapv:UnspecifiedMatching +OMIM:619958 GLMP skos:exactMatch hgnc.symbol:GLMP semapv:UnspecifiedMatching +OMIM:619958 GLMP skos:exactMatch ncbigene:112770 semapv:UnspecifiedMatching +OMIM:619959 acces syndrome skos:exactMatch MONDO:0859262 semapv:UnspecifiedMatching +OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:15870 semapv:UnspecifiedMatching +OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:RAB5IF semapv:UnspecifiedMatching +OMIM:619960 RAB5IF skos:exactMatch ncbigene:55969 semapv:UnspecifiedMatching +OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:3799 semapv:UnspecifiedMatching +OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:FOXB1 semapv:UnspecifiedMatching +OMIM:619961 FOXB1 skos:exactMatch ncbigene:27023 semapv:UnspecifiedMatching +OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:23315 semapv:UnspecifiedMatching +OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:FOXB2 semapv:UnspecifiedMatching +OMIM:619962 FOXB2 skos:exactMatch ncbigene:442425 semapv:UnspecifiedMatching +OMIM:619963 ANO9 skos:exactMatch hgnc.symbol:20679 semapv:UnspecifiedMatching +OMIM:619963 ANO9 skos:exactMatch hgnc.symbol:ANO9 semapv:UnspecifiedMatching +OMIM:619963 ANO9 skos:exactMatch ncbigene:338440 semapv:UnspecifiedMatching +OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures skos:exactMatch MONDO:0859263 semapv:UnspecifiedMatching +OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:20565 semapv:UnspecifiedMatching +OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:ALPK2 semapv:UnspecifiedMatching +OMIM:619965 ALPK2 skos:exactMatch ncbigene:115701 semapv:UnspecifiedMatching +OMIM:619966 spastic paraplegia 87, autosomal recessive skos:exactMatch MONDO:0031019 semapv:UnspecifiedMatching +OMIM:619967 congenital myopathy 11 skos:exactMatch MONDO:0859264 semapv:UnspecifiedMatching +OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:23337 semapv:UnspecifiedMatching +OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:ACBD4 semapv:UnspecifiedMatching +OMIM:619968 ACBD4 skos:exactMatch ncbigene:79777 semapv:UnspecifiedMatching +OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:26955 semapv:UnspecifiedMatching +OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:ZBTB47 semapv:UnspecifiedMatching +OMIM:619969 ZBTB47 skos:exactMatch ncbigene:92999 semapv:UnspecifiedMatching +OMIM:619970 developmental and epileptic encephalopathy 104 skos:exactMatch MONDO:0031021 semapv:UnspecifiedMatching +OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy skos:exactMatch MONDO:0859265 semapv:UnspecifiedMatching +OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy skos:exactMatch MONDO:0859266 semapv:UnspecifiedMatching +OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:29157 semapv:UnspecifiedMatching +OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:DNAJC16 semapv:UnspecifiedMatching +OMIM:619973 DNAJC16 skos:exactMatch ncbigene:23341 semapv:UnspecifiedMatching +OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:27937 semapv:UnspecifiedMatching +OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:ESPNL semapv:UnspecifiedMatching +OMIM:619974 ESPNL skos:exactMatch ncbigene:339768 semapv:UnspecifiedMatching +OMIM:619975 tumor predisposition syndrome 2 skos:exactMatch MONDO:0859267 semapv:UnspecifiedMatching +OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:25874 semapv:UnspecifiedMatching +OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:MFSD1 semapv:UnspecifiedMatching +OMIM:619976 MFSD1 skos:exactMatch ncbigene:64747 semapv:UnspecifiedMatching +OMIM:619977 macular dystrophy, retinal, 4 skos:exactMatch MONDO:0859568 semapv:UnspecifiedMatching +OMIM:619978 MATCAP1 skos:exactMatch hgnc.symbol:MATCAP1 semapv:UnspecifiedMatching +OMIM:619978 MATCAP1 skos:exactMatch ncbigene:653319 semapv:UnspecifiedMatching +OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:31690 semapv:UnspecifiedMatching +OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:C18orf32 semapv:UnspecifiedMatching +OMIM:619979 C18ORF32 skos:exactMatch ncbigene:497661 semapv:UnspecifiedMatching +OMIM:619980 braddock-carey syndrome 1 skos:exactMatch MONDO:0859569 semapv:UnspecifiedMatching +OMIM:619981 braddock-carey syndrome 2 skos:exactMatch MONDO:0859570 semapv:UnspecifiedMatching +OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:44879 semapv:UnspecifiedMatching +OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:VIM-AS1 semapv:UnspecifiedMatching +OMIM:619982 VIMAS1 skos:exactMatch ncbigene:100507347 semapv:UnspecifiedMatching +OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch MONDO:0031028 semapv:UnspecifiedMatching +OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:28989 semapv:UnspecifiedMatching +OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:NPIPB3 semapv:UnspecifiedMatching +OMIM:619984 NPIPB3 skos:exactMatch ncbigene:23117 semapv:UnspecifiedMatching +OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 skos:exactMatch MONDO:0859271 semapv:UnspecifiedMatching +OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch MONDO:0031030 semapv:UnspecifiedMatching +OMIM:619987 NRARP skos:exactMatch hgnc.symbol:33843 semapv:UnspecifiedMatching +OMIM:619987 NRARP skos:exactMatch hgnc.symbol:NRARP semapv:UnspecifiedMatching +OMIM:619987 NRARP skos:exactMatch ncbigene:441478 semapv:UnspecifiedMatching +OMIM:619988 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch MONDO:0031031 semapv:UnspecifiedMatching +OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies skos:exactMatch MONDO:0859272 semapv:UnspecifiedMatching +OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:24253 semapv:UnspecifiedMatching +OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:TMED7 semapv:UnspecifiedMatching +OMIM:619990 TMED7 skos:exactMatch ncbigene:51014 semapv:UnspecifiedMatching +OMIM:619991 liver disease, severe congenital skos:exactMatch MONDO:0859273 semapv:UnspecifiedMatching +OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:25320 semapv:UnspecifiedMatching +OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:C3orf20 semapv:UnspecifiedMatching +OMIM:619992 C3ORF20 skos:exactMatch ncbigene:84077 semapv:UnspecifiedMatching +OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:26591 semapv:UnspecifiedMatching +OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:PRRT3 semapv:UnspecifiedMatching +OMIM:619993 PRRT3 skos:exactMatch ncbigene:285368 semapv:UnspecifiedMatching +OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:26882 semapv:UnspecifiedMatching +OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:DYNLT5 semapv:UnspecifiedMatching +OMIM:619994 DYNLT5 skos:exactMatch ncbigene:200132 semapv:UnspecifiedMatching +OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies skos:exactMatch MONDO:0859274 semapv:UnspecifiedMatching +OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:30559 semapv:UnspecifiedMatching +OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:RSRC2 semapv:UnspecifiedMatching +OMIM:619996 RSRC2 skos:exactMatch ncbigene:65117 semapv:UnspecifiedMatching +OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:23617 semapv:UnspecifiedMatching +OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:SLC35F5 semapv:UnspecifiedMatching +OMIM:619997 SLC35F5 skos:exactMatch ncbigene:80255 semapv:UnspecifiedMatching +OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:17010 semapv:UnspecifiedMatching +OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:NUP42 semapv:UnspecifiedMatching +OMIM:619998 NUP42 skos:exactMatch ncbigene:11097 semapv:UnspecifiedMatching +OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:25845 semapv:UnspecifiedMatching +OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:NAA40 semapv:UnspecifiedMatching +OMIM:619999 NAA40 skos:exactMatch ncbigene:79829 semapv:UnspecifiedMatching +OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:28330 semapv:UnspecifiedMatching +OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:TMEM167A semapv:UnspecifiedMatching +OMIM:620000 TMEM167A skos:exactMatch ncbigene:153339 semapv:UnspecifiedMatching +OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities skos:exactMatch MONDO:0859275 semapv:UnspecifiedMatching +OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:27026 semapv:UnspecifiedMatching +OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:C5orf47 semapv:UnspecifiedMatching +OMIM:620002 C5ORF47 skos:exactMatch ncbigene:133491 semapv:UnspecifiedMatching +OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:29082 semapv:UnspecifiedMatching +OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:TBC1D12 semapv:UnspecifiedMatching +OMIM:620003 TBC1D12 skos:exactMatch ncbigene:23232 semapv:UnspecifiedMatching +OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:24987 semapv:UnspecifiedMatching +OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:NMRAL1 semapv:UnspecifiedMatching +OMIM:620004 NMRAL1 skos:exactMatch ncbigene:57407 semapv:UnspecifiedMatching +OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome skos:exactMatch MONDO:0859276 semapv:UnspecifiedMatching +OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:29123 semapv:UnspecifiedMatching +OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:RAD54L2 semapv:UnspecifiedMatching +OMIM:620006 RAD54L2 skos:exactMatch ncbigene:23132 semapv:UnspecifiedMatching +OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects skos:exactMatch MONDO:0859277 semapv:UnspecifiedMatching +OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:20664 semapv:UnspecifiedMatching +OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:H2AZ2 semapv:UnspecifiedMatching +OMIM:620008 H2AZ2 skos:exactMatch ncbigene:94239 semapv:UnspecifiedMatching +OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch MONDO:0859278 semapv:UnspecifiedMatching +OMIM:620010 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch MONDO:0031040 semapv:UnspecifiedMatching +OMIM:620011 neuronopathy, distal hereditary motor, autosomal recessive 6 skos:exactMatch MONDO:0859279 semapv:UnspecifiedMatching +OMIM:620012 developmental delay, hypotonia, and impaired language skos:exactMatch MONDO:0859280 semapv:UnspecifiedMatching +OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:16829 semapv:UnspecifiedMatching +OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:RRP9 semapv:UnspecifiedMatching +OMIM:620013 RRP9 skos:exactMatch ncbigene:9136 semapv:UnspecifiedMatching +OMIM:620014 lymphatic malformation 12 skos:exactMatch MONDO:0031043 semapv:UnspecifiedMatching +OMIM:620015 advance sleep phase syndrome, familial, 4 skos:exactMatch MONDO:0031044 semapv:UnspecifiedMatching +OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:13906 semapv:UnspecifiedMatching +OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:MXD4 semapv:UnspecifiedMatching +OMIM:620016 MXD4 skos:exactMatch ncbigene:10608 semapv:UnspecifiedMatching +OMIM:620017 NRM skos:exactMatch hgnc.symbol:8003 semapv:UnspecifiedMatching +OMIM:620017 NRM skos:exactMatch hgnc.symbol:NRM semapv:UnspecifiedMatching +OMIM:620017 NRM skos:exactMatch ncbigene:11270 semapv:UnspecifiedMatching +OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:30167 semapv:UnspecifiedMatching +OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:PDIA4 semapv:UnspecifiedMatching +OMIM:620018 PDIA4 skos:exactMatch ncbigene:9601 semapv:UnspecifiedMatching +OMIM:620019 arthrogryposis, distal, iia 11 skos:exactMatch MONDO:0031045 semapv:UnspecifiedMatching +OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:30291 semapv:UnspecifiedMatching +OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:G3BP2 semapv:UnspecifiedMatching +OMIM:620020 G3BP2 skos:exactMatch ncbigene:9908 semapv:UnspecifiedMatching +OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies skos:exactMatch MONDO:0859281 semapv:UnspecifiedMatching +OMIM:620022 stickler syndrome, iia 6 skos:exactMatch MONDO:0031047 semapv:UnspecifiedMatching +OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures skos:exactMatch MONDO:0859282 semapv:UnspecifiedMatching +OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities skos:exactMatch MONDO:0859283 semapv:UnspecifiedMatching +OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects skos:exactMatch MONDO:0859571 semapv:UnspecifiedMatching +OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:23712 semapv:UnspecifiedMatching +OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:ZSCAN1 semapv:UnspecifiedMatching +OMIM:620026 ZSCAN1 skos:exactMatch ncbigene:284312 semapv:UnspecifiedMatching +OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay skos:exactMatch MONDO:0859285 semapv:UnspecifiedMatching +OMIM:620028 developmental and epileptic encephalopathy 106 skos:exactMatch MONDO:0031052 semapv:UnspecifiedMatching +OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch MONDO:0859286 semapv:UnspecifiedMatching +OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:25234 semapv:UnspecifiedMatching +OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:RSRP1 semapv:UnspecifiedMatching +OMIM:620030 RSRP1 skos:exactMatch ncbigene:57035 semapv:UnspecifiedMatching +OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:15682 semapv:UnspecifiedMatching +OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:PHC3 semapv:UnspecifiedMatching +OMIM:620031 PHC3 skos:exactMatch ncbigene:80012 semapv:UnspecifiedMatching +OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch MONDO:0031054 semapv:UnspecifiedMatching +OMIM:620033 developmental and epileptic encephalopathy 107 skos:exactMatch MONDO:0031055 semapv:UnspecifiedMatching +OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:25233 semapv:UnspecifiedMatching +OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:NIPAL3 semapv:UnspecifiedMatching +OMIM:620034 NIPAL3 skos:exactMatch ncbigene:57185 semapv:UnspecifiedMatching +OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:30586 semapv:UnspecifiedMatching +OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:SMAD5-AS1 semapv:UnspecifiedMatching +OMIM:620035 SMAD5AS1 skos:exactMatch ncbigene:9597 semapv:UnspecifiedMatching +OMIM:620036 IER2 skos:exactMatch hgnc.symbol:28871 semapv:UnspecifiedMatching +OMIM:620036 IER2 skos:exactMatch hgnc.symbol:IER2 semapv:UnspecifiedMatching +OMIM:620036 IER2 skos:exactMatch ncbigene:9592 semapv:UnspecifiedMatching +OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:16822 semapv:UnspecifiedMatching +OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:FAM193A semapv:UnspecifiedMatching +OMIM:620037 FAM193A skos:exactMatch ncbigene:8603 semapv:UnspecifiedMatching +OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language skos:exactMatch MONDO:0859287 semapv:UnspecifiedMatching +OMIM:620039 POGK skos:exactMatch hgnc.symbol:18800 semapv:UnspecifiedMatching +OMIM:620039 POGK skos:exactMatch hgnc.symbol:POGK semapv:UnspecifiedMatching +OMIM:620039 POGK skos:exactMatch ncbigene:57645 semapv:UnspecifiedMatching +OMIM:620040 dyskeratosis congenita, digenic skos:exactMatch MONDO:0031057 semapv:UnspecifiedMatching +OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:28300 semapv:UnspecifiedMatching +OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:NT5C3B semapv:UnspecifiedMatching +OMIM:620041 NT5C3B skos:exactMatch ncbigene:115024 semapv:UnspecifiedMatching +OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:23396 semapv:UnspecifiedMatching +OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:PHYHD1 semapv:UnspecifiedMatching +OMIM:620042 PHYHD1 skos:exactMatch ncbigene:254295 semapv:UnspecifiedMatching +OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:29674 semapv:UnspecifiedMatching +OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:RDH16 semapv:UnspecifiedMatching +OMIM:620043 RDH16 skos:exactMatch ncbigene:8608 semapv:UnspecifiedMatching +OMIM:620044 bone marrow failure and diabetes mellitus syndrome skos:exactMatch MONDO:0859288 semapv:UnspecifiedMatching +OMIM:620045 intestinal dysmotility syndrome skos:exactMatch MONDO:0859289 semapv:UnspecifiedMatching +OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:31103 semapv:UnspecifiedMatching +OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:PFN4 semapv:UnspecifiedMatching +OMIM:620046 PFN4 skos:exactMatch ncbigene:375189 semapv:UnspecifiedMatching +OMIM:620047 microcephaly 29, primary, autosomal recessive skos:exactMatch MONDO:0031060 semapv:UnspecifiedMatching +OMIM:620048 RER1 skos:exactMatch hgnc.symbol:30309 semapv:UnspecifiedMatching +OMIM:620048 RER1 skos:exactMatch hgnc.symbol:RER1 semapv:UnspecifiedMatching +OMIM:620048 RER1 skos:exactMatch ncbigene:11079 semapv:UnspecifiedMatching +OMIM:620049 nephrotic syndrome, iia 26 skos:exactMatch MONDO:0031061 semapv:UnspecifiedMatching +OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:24280 semapv:UnspecifiedMatching +OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:PHF20L1 semapv:UnspecifiedMatching +OMIM:620050 PHF20L1 skos:exactMatch ncbigene:51105 semapv:UnspecifiedMatching +OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:18401 semapv:UnspecifiedMatching +OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:RNF41 semapv:UnspecifiedMatching +OMIM:620051 RNF41 skos:exactMatch ncbigene:10193 semapv:UnspecifiedMatching +OMIM:620052 ENTREP2 skos:exactMatch hgnc.symbol:ENTREP2 semapv:UnspecifiedMatching +OMIM:620052 ENTREP2 skos:exactMatch ncbigene:23359 semapv:UnspecifiedMatching +OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:27105 semapv:UnspecifiedMatching +OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:LINC00974 semapv:UnspecifiedMatching +OMIM:620053 LINC00974 skos:exactMatch ncbigene:147093 semapv:UnspecifiedMatching +OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:22983 semapv:UnspecifiedMatching +OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:PHF13 semapv:UnspecifiedMatching +OMIM:620054 PHF13 skos:exactMatch ncbigene:148479 semapv:UnspecifiedMatching +OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:17015 semapv:UnspecifiedMatching +OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:PWP1 semapv:UnspecifiedMatching +OMIM:620055 PWP1 skos:exactMatch ncbigene:11137 semapv:UnspecifiedMatching +OMIM:620056 polycystic kidney disease 7 skos:exactMatch MONDO:0031062 semapv:UnspecifiedMatching +OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:18458 semapv:UnspecifiedMatching +OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:PHF7 semapv:UnspecifiedMatching +OMIM:620057 PHF7 skos:exactMatch ncbigene:51533 semapv:UnspecifiedMatching +OMIM:620058 familial apolipoprotein gene cluster deletion syndrome skos:exactMatch MONDO:0859290 semapv:UnspecifiedMatching +OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:21380 semapv:UnspecifiedMatching +OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:LINC00472 semapv:UnspecifiedMatching +OMIM:620059 LINC00472 skos:exactMatch ncbigene:79940 semapv:UnspecifiedMatching +OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:19858 semapv:UnspecifiedMatching +OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:TTC7B semapv:UnspecifiedMatching +OMIM:620060 TTC7B skos:exactMatch ncbigene:145567 semapv:UnspecifiedMatching +OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:30833 semapv:UnspecifiedMatching +OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:CDK2AP2 semapv:UnspecifiedMatching +OMIM:620061 CDK2AP2 skos:exactMatch ncbigene:10263 semapv:UnspecifiedMatching +OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch MONDO:0100217 semapv:UnspecifiedMatching +OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:30073 semapv:UnspecifiedMatching +OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:POLA2 semapv:UnspecifiedMatching +OMIM:620063 POLA2 skos:exactMatch ncbigene:23649 semapv:UnspecifiedMatching +OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:24884 semapv:UnspecifiedMatching +OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:OXER1 semapv:UnspecifiedMatching +OMIM:620064 OXER1 skos:exactMatch ncbigene:165140 semapv:UnspecifiedMatching +OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:exactMatch MONDO:0859292 semapv:UnspecifiedMatching +OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment skos:exactMatch MONDO:0859293 semapv:UnspecifiedMatching +OMIM:620067 cardiac valvular dysplasia 2 skos:exactMatch MONDO:0859572 semapv:UnspecifiedMatching +OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii skos:exactMatch MONDO:0031068 semapv:UnspecifiedMatching +OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:22215 semapv:UnspecifiedMatching +OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:ANKIB1 semapv:UnspecifiedMatching +OMIM:620069 ANKIB1 skos:exactMatch ncbigene:54467 semapv:UnspecifiedMatching +OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch MONDO:0859295 semapv:UnspecifiedMatching +OMIM:620071 birk-aharoni syndrome skos:exactMatch MONDO:0859296 semapv:UnspecifiedMatching +OMIM:620072 diamond-blackfan anemia 21 skos:exactMatch MONDO:0031071 semapv:UnspecifiedMatching +OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch MONDO:0859297 semapv:UnspecifiedMatching +OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:21173 semapv:UnspecifiedMatching +OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:LTV1 semapv:UnspecifiedMatching +OMIM:620074 LTV1 skos:exactMatch ncbigene:84946 semapv:UnspecifiedMatching +OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch MONDO:0859298 semapv:UnspecifiedMatching +OMIM:620076 bent bone dysplasia syndrome 2 skos:exactMatch MONDO:0859573 semapv:UnspecifiedMatching +OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:15882 semapv:UnspecifiedMatching +OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:PCMTD2 semapv:UnspecifiedMatching +OMIM:620077 PCMTD2 skos:exactMatch ncbigene:55251 semapv:UnspecifiedMatching +OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:27016 semapv:UnspecifiedMatching +OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:FAM168B semapv:UnspecifiedMatching +OMIM:620078 FAM168B skos:exactMatch ncbigene:130074 semapv:UnspecifiedMatching +OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:28227 semapv:UnspecifiedMatching +OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:LINC00467 semapv:UnspecifiedMatching +OMIM:620079 LINC00467 skos:exactMatch ncbigene:84791 semapv:UnspecifiedMatching +OMIM:620080 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch MONDO:0859300 semapv:UnspecifiedMatching +OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:20327 semapv:UnspecifiedMatching +OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:RBM26 semapv:UnspecifiedMatching +OMIM:620081 RBM26 skos:exactMatch ncbigene:64062 semapv:UnspecifiedMatching +OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:29243 semapv:UnspecifiedMatching +OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:RBM27 semapv:UnspecifiedMatching +OMIM:620082 RBM27 skos:exactMatch ncbigene:54439 semapv:UnspecifiedMatching +OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch MONDO:0859301 semapv:UnspecifiedMatching +OMIM:620084 spermatogenic failure 76 skos:exactMatch MONDO:0031077 semapv:UnspecifiedMatching +OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 skos:exactMatch MONDO:0859302 semapv:UnspecifiedMatching +OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch MONDO:0859303 semapv:UnspecifiedMatching +OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:19911 semapv:UnspecifiedMatching +OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:DCAF12 semapv:UnspecifiedMatching +OMIM:620087 DCAF12 skos:exactMatch ncbigene:25853 semapv:UnspecifiedMatching +OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:41041 semapv:UnspecifiedMatching +OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:WWC2-AS1 semapv:UnspecifiedMatching +OMIM:620088 WWC2AS1 skos:exactMatch ncbigene:101928734 semapv:UnspecifiedMatching +OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction skos:exactMatch MONDO:0859304 semapv:UnspecifiedMatching +OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:30768 semapv:UnspecifiedMatching +OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:ZNF675 semapv:UnspecifiedMatching +OMIM:620090 ZNF675 skos:exactMatch ncbigene:171392 semapv:UnspecifiedMatching +OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:30483 semapv:UnspecifiedMatching +OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:PCMTD1 semapv:UnspecifiedMatching +OMIM:620091 PCMTD1 skos:exactMatch ncbigene:115294 semapv:UnspecifiedMatching +OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:29210 semapv:UnspecifiedMatching +OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:MIER2 semapv:UnspecifiedMatching +OMIM:620092 MIER2 skos:exactMatch ncbigene:54531 semapv:UnspecifiedMatching +OMIM:620093 ACTMAP skos:exactMatch hgnc.symbol:ACTMAP semapv:UnspecifiedMatching +OMIM:620093 ACTMAP skos:exactMatch ncbigene:284325 semapv:UnspecifiedMatching +OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch MONDO:0859305 semapv:UnspecifiedMatching +OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:22916 semapv:UnspecifiedMatching +OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:ZCCHC2 semapv:UnspecifiedMatching +OMIM:620095 ZCCHC2 skos:exactMatch ncbigene:54877 semapv:UnspecifiedMatching +OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:26783 semapv:UnspecifiedMatching +OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:RNF185 semapv:UnspecifiedMatching +OMIM:620096 RNF185 skos:exactMatch ncbigene:91445 semapv:UnspecifiedMatching +OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:27283 semapv:UnspecifiedMatching +OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:PLBD2 semapv:UnspecifiedMatching +OMIM:620097 PLBD2 skos:exactMatch ncbigene:196463 semapv:UnspecifiedMatching +OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies skos:exactMatch MONDO:0859306 semapv:UnspecifiedMatching +OMIM:620099 cleidocranial dysplasia 2 skos:exactMatch MONDO:0859307 semapv:UnspecifiedMatching +OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:26678 semapv:UnspecifiedMatching +OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:MIER3 semapv:UnspecifiedMatching +OMIM:620100 MIER3 skos:exactMatch ncbigene:166968 semapv:UnspecifiedMatching +OMIM:620101 RHOV skos:exactMatch hgnc.symbol:18313 semapv:UnspecifiedMatching +OMIM:620101 RHOV skos:exactMatch hgnc.symbol:RHOV semapv:UnspecifiedMatching +OMIM:620101 RHOV skos:exactMatch ncbigene:171177 semapv:UnspecifiedMatching +OMIM:620102 retinitis pigmentosa 95 skos:exactMatch MONDO:0859308 semapv:UnspecifiedMatching +OMIM:620103 spermatogenic failure 77 skos:exactMatch MONDO:0031083 semapv:UnspecifiedMatching +OMIM:620104 amelogenesis imperfecta, iia 1k skos:exactMatch MONDO:0031084 semapv:UnspecifiedMatching +OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:25357 semapv:UnspecifiedMatching +OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:CLEC4F semapv:UnspecifiedMatching +OMIM:620105 CLEC4F skos:exactMatch ncbigene:165530 semapv:UnspecifiedMatching +OMIM:620106 spastic paraplegia 88, autosomal dominant skos:exactMatch MONDO:0859309 semapv:UnspecifiedMatching +OMIM:620107 orofaciodigital syndrome 19 skos:exactMatch MONDO:0859310 semapv:UnspecifiedMatching +OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:28497 semapv:UnspecifiedMatching +OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:TMEM151A semapv:UnspecifiedMatching +OMIM:620108 TMEM151A skos:exactMatch ncbigene:256472 semapv:UnspecifiedMatching +OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:25095 semapv:UnspecifiedMatching +OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:DCAF15 semapv:UnspecifiedMatching +OMIM:620109 DCAF15 skos:exactMatch ncbigene:90379 semapv:UnspecifiedMatching +OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:24148 semapv:UnspecifiedMatching +OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:WWC2 semapv:UnspecifiedMatching +OMIM:620110 WWC2 skos:exactMatch ncbigene:80014 semapv:UnspecifiedMatching +OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j skos:exactMatch MONDO:0859311 semapv:UnspecifiedMatching +OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:40079 semapv:UnspecifiedMatching +OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:APOA1-AS semapv:UnspecifiedMatching +OMIM:620112 APOA1AS skos:exactMatch ncbigene:104326055 semapv:UnspecifiedMatching +OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities skos:exactMatch MONDO:0859312 semapv:UnspecifiedMatching +OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures skos:exactMatch MONDO:0859313 semapv:UnspecifiedMatching +OMIM:620115 developmental and epileptic encephalopathy 108 skos:exactMatch MONDO:0859314 semapv:UnspecifiedMatching +OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:33661 semapv:UnspecifiedMatching +OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:MIR887 semapv:UnspecifiedMatching +OMIM:620117 MIR887 skos:exactMatch ncbigene:100126347 semapv:UnspecifiedMatching +OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:23705 semapv:UnspecifiedMatching +OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:ZNF490 semapv:UnspecifiedMatching +OMIM:620118 ZNF490 skos:exactMatch ncbigene:57474 semapv:UnspecifiedMatching +OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:22212 semapv:UnspecifiedMatching +OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:DENND2A semapv:UnspecifiedMatching +OMIM:620120 DENND2A skos:exactMatch ncbigene:27147 semapv:UnspecifiedMatching +OMIM:620121 iron overload, susceptibility to skos:exactMatch MONDO:0859316 semapv:UnspecifiedMatching +OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:29472 semapv:UnspecifiedMatching +OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:DENND11 semapv:UnspecifiedMatching +OMIM:620122 DENND11 skos:exactMatch ncbigene:57189 semapv:UnspecifiedMatching +OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:29308 semapv:UnspecifiedMatching +OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:FBRSL1 semapv:UnspecifiedMatching +OMIM:620123 FBRSL1 skos:exactMatch ncbigene:57666 semapv:UnspecifiedMatching +OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:23707 semapv:UnspecifiedMatching +OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:ZNF492 semapv:UnspecifiedMatching +OMIM:620124 ZNF492 skos:exactMatch ncbigene:57615 semapv:UnspecifiedMatching +OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive skos:exactMatch MONDO:0859317 semapv:UnspecifiedMatching +OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive skos:exactMatch MONDO:0859318 semapv:UnspecifiedMatching +OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:31762 semapv:UnspecifiedMatching +OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:MIR151A semapv:UnspecifiedMatching +OMIM:620127 MIR151A skos:exactMatch ncbigene:442893 semapv:UnspecifiedMatching +OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:21386 semapv:UnspecifiedMatching +OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:FSTL5 semapv:UnspecifiedMatching +OMIM:620128 FSTL5 skos:exactMatch ncbigene:56884 semapv:UnspecifiedMatching +OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:20165 semapv:UnspecifiedMatching +OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:NYNRIN semapv:UnspecifiedMatching +OMIM:620129 NYNRIN skos:exactMatch ncbigene:57523 semapv:UnspecifiedMatching +OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:29225 semapv:UnspecifiedMatching +OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:ODF2L semapv:UnspecifiedMatching +OMIM:620130 ODF2L skos:exactMatch ncbigene:57489 semapv:UnspecifiedMatching +OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:15900 semapv:UnspecifiedMatching +OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:DEFB126 semapv:UnspecifiedMatching +OMIM:620131 DEFB126 skos:exactMatch ncbigene:81623 semapv:UnspecifiedMatching +OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:29299 semapv:UnspecifiedMatching +OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:ZSWIM5 semapv:UnspecifiedMatching +OMIM:620132 ZSWIM5 skos:exactMatch ncbigene:57643 semapv:UnspecifiedMatching +OMIM:620133 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch MONDO:0859319 semapv:UnspecifiedMatching +OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:20884 semapv:UnspecifiedMatching +OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:PLEKHG1 semapv:UnspecifiedMatching +OMIM:620134 PLEKHG1 skos:exactMatch ncbigene:57480 semapv:UnspecifiedMatching +OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 skos:exactMatch MONDO:0859320 semapv:UnspecifiedMatching +OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:30535 semapv:UnspecifiedMatching +OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:NUDCD2 semapv:UnspecifiedMatching +OMIM:620136 NUDCD2 skos:exactMatch ncbigene:134492 semapv:UnspecifiedMatching +OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 skos:exactMatch MONDO:0859321 semapv:UnspecifiedMatching +OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis skos:exactMatch MONDO:0859322 semapv:UnspecifiedMatching +OMIM:620139 combined oxidative phosphorylation deficiency 56 skos:exactMatch MONDO:0859323 semapv:UnspecifiedMatching +OMIM:620140 SYCN skos:exactMatch hgnc.symbol:18442 semapv:UnspecifiedMatching +OMIM:620140 SYCN skos:exactMatch hgnc.symbol:SYCN semapv:UnspecifiedMatching +OMIM:620140 SYCN skos:exactMatch ncbigene:342898 semapv:UnspecifiedMatching +OMIM:620141 developmental delay, language impairment, and ocular abnormalities skos:exactMatch MONDO:0859324 semapv:UnspecifiedMatching +OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:30460 semapv:UnspecifiedMatching +OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:CENATAC semapv:UnspecifiedMatching +OMIM:620142 CENATAC skos:exactMatch ncbigene:338657 semapv:UnspecifiedMatching +OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:37270 semapv:UnspecifiedMatching +OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:TMEM232 semapv:UnspecifiedMatching +OMIM:620143 TMEM232 skos:exactMatch ncbigene:642987 semapv:UnspecifiedMatching +OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:29314 semapv:UnspecifiedMatching +OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:CACHD1 semapv:UnspecifiedMatching +OMIM:620144 CACHD1 skos:exactMatch ncbigene:57685 semapv:UnspecifiedMatching +OMIM:620145 developmental and epileptic encephalopathy 109 skos:exactMatch MONDO:0859325 semapv:UnspecifiedMatching +OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:34427 semapv:UnspecifiedMatching +OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:CRYBG3 semapv:UnspecifiedMatching +OMIM:620146 CRYBG3 skos:exactMatch ncbigene:131544 semapv:UnspecifiedMatching +OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:28401 semapv:UnspecifiedMatching +OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:RBM46 semapv:UnspecifiedMatching +OMIM:620147 RBM46 skos:exactMatch ncbigene:166863 semapv:UnspecifiedMatching +OMIM:620148 ichthyosis, annular epidermolytic, 2 skos:exactMatch MONDO:0859574 semapv:UnspecifiedMatching +OMIM:620149 developmental and epileptic encephalopathy 110 skos:exactMatch MONDO:0859327 semapv:UnspecifiedMatching +OMIM:620150 epidermolytic hyperkeratosis 2 skos:exactMatch MONDO:0958184 semapv:UnspecifiedMatching +OMIM:620151 wolman disease skos:exactMatch MONDO:0019148 semapv:UnspecifiedMatching +OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch MONDO:0859328 semapv:UnspecifiedMatching +OMIM:620153 mosaic variegated aneuploidy syndrome 4 skos:exactMatch MONDO:0859329 semapv:UnspecifiedMatching +OMIM:620154 oocyte/zygote/embryo maturation arrest 13 skos:exactMatch MONDO:0859330 semapv:UnspecifiedMatching +OMIM:620155 rabin-pappas syndrome skos:exactMatch MONDO:0859331 semapv:UnspecifiedMatching +OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch MONDO:0859332 semapv:UnspecifiedMatching +OMIM:620157 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch MONDO:0859333 semapv:UnspecifiedMatching +OMIM:620158 spinocerebellar ataxia 50 skos:exactMatch MONDO:0859334 semapv:UnspecifiedMatching +OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:29206 semapv:UnspecifiedMatching +OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:PNMA8B semapv:UnspecifiedMatching +OMIM:620159 PNMA8B skos:exactMatch ncbigene:57469 semapv:UnspecifiedMatching +OMIM:620160 IQCN skos:exactMatch hgnc.symbol:29350 semapv:UnspecifiedMatching +OMIM:620160 IQCN skos:exactMatch hgnc.symbol:IQCN semapv:UnspecifiedMatching +OMIM:620160 IQCN skos:exactMatch ncbigene:80726 semapv:UnspecifiedMatching +OMIM:620161 congenital myopathy 15 skos:exactMatch MONDO:0859335 semapv:UnspecifiedMatching +OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:23226 semapv:UnspecifiedMatching +OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:ZNF471 semapv:UnspecifiedMatching +OMIM:620162 ZNF471 skos:exactMatch ncbigene:57573 semapv:UnspecifiedMatching +OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:29312 semapv:UnspecifiedMatching +OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:ZFP14 semapv:UnspecifiedMatching +OMIM:620163 ZFP14 skos:exactMatch ncbigene:57677 semapv:UnspecifiedMatching +OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:23383 semapv:UnspecifiedMatching +OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:ZBTB26 semapv:UnspecifiedMatching +OMIM:620164 ZBTB26 skos:exactMatch ncbigene:57684 semapv:UnspecifiedMatching +OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:6691 semapv:UnspecifiedMatching +OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:LRCH4 semapv:UnspecifiedMatching +OMIM:620165 LRCH4 skos:exactMatch ncbigene:4034 semapv:UnspecifiedMatching +OMIM:620166 muscular dystrophy, congenital, with or without seizures skos:exactMatch MONDO:0859336 semapv:UnspecifiedMatching +OMIM:620167 combined oxidative phosphorylation deficiency 57 skos:exactMatch MONDO:0859337 semapv:UnspecifiedMatching +OMIM:620168 ATOSA skos:exactMatch hgnc.symbol:ATOSA semapv:UnspecifiedMatching +OMIM:620168 ATOSA skos:exactMatch ncbigene:56204 semapv:UnspecifiedMatching +OMIM:620169 ATOSB skos:exactMatch hgnc.symbol:ATOSB semapv:UnspecifiedMatching +OMIM:620169 ATOSB skos:exactMatch ncbigene:80256 semapv:UnspecifiedMatching +OMIM:620170 spermatogenic failure 78 skos:exactMatch MONDO:0859338 semapv:UnspecifiedMatching +OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:21021 semapv:UnspecifiedMatching +OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:NHSL1 semapv:UnspecifiedMatching +OMIM:620171 NHSL1 skos:exactMatch ncbigene:57224 semapv:UnspecifiedMatching +OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:29229 semapv:UnspecifiedMatching +OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:NWD2 semapv:UnspecifiedMatching +OMIM:620172 NWD2 skos:exactMatch ncbigene:57495 semapv:UnspecifiedMatching +OMIM:620173 tooth agenesis, selective, 10 skos:exactMatch MONDO:0859339 semapv:UnspecifiedMatching +OMIM:620174 spinocerebellar ataxia 27b, late-onset skos:exactMatch MONDO:0859340 semapv:UnspecifiedMatching +OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:20420 semapv:UnspecifiedMatching +OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:RUBCNL semapv:UnspecifiedMatching +OMIM:620175 RUBCNL skos:exactMatch ncbigene:80183 semapv:UnspecifiedMatching +OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:20085 semapv:UnspecifiedMatching +OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:DDX55 semapv:UnspecifiedMatching +OMIM:620176 DDX55 skos:exactMatch ncbigene:57696 semapv:UnspecifiedMatching +OMIM:620177 hypotrichosis 15 skos:exactMatch MONDO:0859341 semapv:UnspecifiedMatching +OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:29305 semapv:UnspecifiedMatching +OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:GRAMD1A semapv:UnspecifiedMatching +OMIM:620178 GRAMD1A skos:exactMatch ncbigene:57655 semapv:UnspecifiedMatching +OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:29214 semapv:UnspecifiedMatching +OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:GRAMD1B semapv:UnspecifiedMatching +OMIM:620179 GRAMD1B skos:exactMatch ncbigene:57476 semapv:UnspecifiedMatching +OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:25252 semapv:UnspecifiedMatching +OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:GRAMD1C semapv:UnspecifiedMatching +OMIM:620180 GRAMD1C skos:exactMatch ncbigene:54762 semapv:UnspecifiedMatching +OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:27287 semapv:UnspecifiedMatching +OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:GRAMD2A semapv:UnspecifiedMatching +OMIM:620181 GRAMD2A skos:exactMatch ncbigene:196996 semapv:UnspecifiedMatching +OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:24911 semapv:UnspecifiedMatching +OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:GRAMD2B semapv:UnspecifiedMatching +OMIM:620182 GRAMD2B skos:exactMatch ncbigene:65983 semapv:UnspecifiedMatching +OMIM:620183 microcephaly 30, primary, autosomal recessive skos:exactMatch MONDO:0859342 semapv:UnspecifiedMatching +OMIM:620184 atelis syndrome 1 skos:exactMatch MONDO:0859575 semapv:UnspecifiedMatching +OMIM:620185 atelis syndrome 2 skos:exactMatch MONDO:0859576 semapv:UnspecifiedMatching +OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome skos:exactMatch MONDO:0859345 semapv:UnspecifiedMatching +OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:29368 semapv:UnspecifiedMatching +OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:CFAP74 semapv:UnspecifiedMatching +OMIM:620187 CFAP74 skos:exactMatch ncbigene:85452 semapv:UnspecifiedMatching +OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:25749 semapv:UnspecifiedMatching +OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:TANGO6 semapv:UnspecifiedMatching +OMIM:620188 TANGO6 skos:exactMatch ncbigene:79613 semapv:UnspecifiedMatching +OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch MONDO:0859346 semapv:UnspecifiedMatching +OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:16128 semapv:UnspecifiedMatching +OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:ABHD16B semapv:UnspecifiedMatching +OMIM:620190 ABHD16B skos:exactMatch ncbigene:140701 semapv:UnspecifiedMatching +OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities skos:exactMatch MONDO:0859347 semapv:UnspecifiedMatching +OMIM:620192 lacrimoauriculodentodigital syndrome 2 skos:exactMatch MONDO:0859577 semapv:UnspecifiedMatching +OMIM:620193 lacrimoauriculodentodigital syndrome 3 skos:exactMatch MONDO:0859578 semapv:UnspecifiedMatching +OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies skos:exactMatch MONDO:0859350 semapv:UnspecifiedMatching +OMIM:620195 obesity and hypopigmentation skos:exactMatch MONDO:0859351 semapv:UnspecifiedMatching +OMIM:620196 spermatogenic failure 79 skos:exactMatch MONDO:0859352 semapv:UnspecifiedMatching +OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch MONDO:0859353 semapv:UnspecifiedMatching +OMIM:620198 thyroid hormone metabolism, abnormal, 3 skos:exactMatch MONDO:0859354 semapv:UnspecifiedMatching +OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch MONDO:0859355 semapv:UnspecifiedMatching +OMIM:620200 congenital disorder of glycosylation, iia iiy skos:exactMatch MONDO:0859356 semapv:UnspecifiedMatching +OMIM:620201 congenital disorder of glycosylation, iia iiz skos:exactMatch MONDO:0859357 semapv:UnspecifiedMatching +OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:29315 semapv:UnspecifiedMatching +OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:VAT1L semapv:UnspecifiedMatching +OMIM:620202 VAT1L skos:exactMatch ncbigene:57687 semapv:UnspecifiedMatching +OMIM:620203 cardiomyopathy, dilated, 2h skos:exactMatch MONDO:0859358 semapv:UnspecifiedMatching +OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:19380 semapv:UnspecifiedMatching +OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:RNU12 semapv:UnspecifiedMatching +OMIM:620204 RNU12 skos:exactMatch ncbigene:267010 semapv:UnspecifiedMatching +OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:29370 semapv:UnspecifiedMatching +OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:ITPRIP semapv:UnspecifiedMatching +OMIM:620205 ITPRIP skos:exactMatch ncbigene:85450 semapv:UnspecifiedMatching +OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:17958 semapv:UnspecifiedMatching +OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:SAMD1 semapv:UnspecifiedMatching +OMIM:620206 SAMD1 skos:exactMatch ncbigene:90378 semapv:UnspecifiedMatching +OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch MONDO:0859360 semapv:UnspecifiedMatching +OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:26611 semapv:UnspecifiedMatching +OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:HECTD4 semapv:UnspecifiedMatching +OMIM:620209 HECTD4 skos:exactMatch ncbigene:283450 semapv:UnspecifiedMatching +OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia skos:exactMatch MONDO:0859361 semapv:UnspecifiedMatching +OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch MONDO:0859362 semapv:UnspecifiedMatching +OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:17699 semapv:UnspecifiedMatching +OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:SBK1 semapv:UnspecifiedMatching +OMIM:620212 SBK1 skos:exactMatch ncbigene:388228 semapv:UnspecifiedMatching +OMIM:620213 SANBR skos:exactMatch hgnc.symbol:29387 semapv:UnspecifiedMatching +OMIM:620213 SANBR skos:exactMatch hgnc.symbol:SANBR semapv:UnspecifiedMatching +OMIM:620213 SANBR skos:exactMatch ncbigene:84542 semapv:UnspecifiedMatching +OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:25842 semapv:UnspecifiedMatching +OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:HHIPL2 semapv:UnspecifiedMatching +OMIM:620214 HHIPL2 skos:exactMatch ncbigene:79802 semapv:UnspecifiedMatching +OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:33914 semapv:UnspecifiedMatching +OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:MINAR2 semapv:UnspecifiedMatching +OMIM:620215 MINAR2 skos:exactMatch ncbigene:100127206 semapv:UnspecifiedMatching +OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:22146 semapv:UnspecifiedMatching +OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:SLC5A9 semapv:UnspecifiedMatching +OMIM:620216 SLC5A9 skos:exactMatch ncbigene:200010 semapv:UnspecifiedMatching +OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:29356 semapv:UnspecifiedMatching +OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:CEP44 semapv:UnspecifiedMatching +OMIM:620217 CEP44 skos:exactMatch ncbigene:80817 semapv:UnspecifiedMatching +OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:28757 semapv:UnspecifiedMatching +OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:SHISAL2A semapv:UnspecifiedMatching +OMIM:620218 SHISAL2A skos:exactMatch ncbigene:348378 semapv:UnspecifiedMatching +OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:34236 semapv:UnspecifiedMatching +OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:SHISAL2B semapv:UnspecifiedMatching +OMIM:620219 SHISAL2B skos:exactMatch ncbigene:100132916 semapv:UnspecifiedMatching +OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:29335 semapv:UnspecifiedMatching +OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:SHISAL1 semapv:UnspecifiedMatching +OMIM:620220 SHISAL1 skos:exactMatch ncbigene:85352 semapv:UnspecifiedMatching +OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia skos:exactMatch MONDO:0859363 semapv:UnspecifiedMatching +OMIM:620222 spermatogenic failure 80 skos:exactMatch MONDO:0859364 semapv:UnspecifiedMatching +OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:29396 semapv:UnspecifiedMatching +OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:ELFN2 semapv:UnspecifiedMatching +OMIM:620223 ELFN2 skos:exactMatch ncbigene:114794 semapv:UnspecifiedMatching +OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures skos:exactMatch MONDO:0859365 semapv:UnspecifiedMatching +OMIM:620225 SOGA1 skos:exactMatch hgnc.symbol:MTCL2 semapv:UnspecifiedMatching +OMIM:620225 SOGA1 skos:exactMatch ncbigene:140710 semapv:UnspecifiedMatching +OMIM:620226 USP37 skos:exactMatch hgnc.symbol:20063 semapv:UnspecifiedMatching +OMIM:620226 USP37 skos:exactMatch hgnc.symbol:USP37 semapv:UnspecifiedMatching +OMIM:620226 USP37 skos:exactMatch ncbigene:57695 semapv:UnspecifiedMatching +OMIM:620227 deafness, autosomal dominant 85 skos:exactMatch MONDO:0859366 semapv:UnspecifiedMatching +OMIM:620228 retinitis pigmentosa 96 skos:exactMatch MONDO:0859367 semapv:UnspecifiedMatching +OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:25378 semapv:UnspecifiedMatching +OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:FHIP1B semapv:UnspecifiedMatching +OMIM:620229 FHIP1B skos:exactMatch ncbigene:84067 semapv:UnspecifiedMatching +OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:16492 semapv:UnspecifiedMatching +OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:FHIP2B semapv:UnspecifiedMatching +OMIM:620230 FHIP2B skos:exactMatch ncbigene:64760 semapv:UnspecifiedMatching +OMIM:620231 short qt syndrome 7 skos:exactMatch MONDO:0859368 semapv:UnspecifiedMatching +OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma skos:exactMatch MONDO:0859369 semapv:UnspecifiedMatching +OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea skos:exactMatch MONDO:0859370 semapv:UnspecifiedMatching +OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:29424 semapv:UnspecifiedMatching +OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:ANKRD24 semapv:UnspecifiedMatching +OMIM:620234 ANKRD24 skos:exactMatch ncbigene:170961 semapv:UnspecifiedMatching +OMIM:620235 rhabdomyolysis, susceptibility to, 1 skos:exactMatch MONDO:0859371 semapv:UnspecifiedMatching +OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch MONDO:0859372 semapv:UnspecifiedMatching +OMIM:620237 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch MONDO:0859373 semapv:UnspecifiedMatching +OMIM:620238 deafness, autosomal recessive 120 skos:exactMatch MONDO:0859374 semapv:UnspecifiedMatching +OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:53652 semapv:UnspecifiedMatching +OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:B3GALT9 semapv:UnspecifiedMatching +OMIM:620239 B3GALT9 skos:exactMatch ncbigene:100288842 semapv:UnspecifiedMatching +OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities skos:exactMatch MONDO:0859375 semapv:UnspecifiedMatching +OMIM:620241 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch MONDO:0859376 semapv:UnspecifiedMatching +OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch MONDO:0859377 semapv:UnspecifiedMatching +OMIM:620243 leukodystrophy, hypomyelinating, 25 skos:exactMatch MONDO:0859378 semapv:UnspecifiedMatching +OMIM:620244 lymphatic malformation 13 skos:exactMatch MONDO:0859379 semapv:UnspecifiedMatching +OMIM:620245 episodic kinesigenic dyskinesia 3 skos:exactMatch MONDO:0859380 semapv:UnspecifiedMatching +OMIM:620246 congenital myopathy 18 skos:exactMatch MONDO:0859514 semapv:UnspecifiedMatching +OMIM:620247 cardiomyopathy, dilated, 1oo skos:exactMatch MONDO:0859381 semapv:UnspecifiedMatching +OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:27453 semapv:UnspecifiedMatching +OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:TMEM80 semapv:UnspecifiedMatching +OMIM:620248 TMEM80 skos:exactMatch ncbigene:283232 semapv:UnspecifiedMatching +OMIM:620249 congenital myopathy 10b, mild variant skos:exactMatch MONDO:0859515 semapv:UnspecifiedMatching +OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum skos:exactMatch MONDO:0859516 semapv:UnspecifiedMatching +OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:20362 semapv:UnspecifiedMatching +OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:CEP170B semapv:UnspecifiedMatching +OMIM:620251 CEP170B skos:exactMatch ncbigene:283638 semapv:UnspecifiedMatching +OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:1363 semapv:UnspecifiedMatching +OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:TMEM245 semapv:UnspecifiedMatching +OMIM:620252 TMEM245 skos:exactMatch ncbigene:23731 semapv:UnspecifiedMatching +OMIM:620253 cataract 50 with or without glaucoma skos:exactMatch MONDO:0859382 semapv:UnspecifiedMatching +OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:25905 semapv:UnspecifiedMatching +OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:RNFT2 semapv:UnspecifiedMatching +OMIM:620254 RNFT2 skos:exactMatch ncbigene:84900 semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:26196 semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:MFSD13A semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch ncbigene:79847 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:20795 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:CLRN3 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch ncbigene:119467 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:30293 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:TMEM158 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch ncbigene:25907 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:26042 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:TMEM160 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch ncbigene:54958 semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:23643 semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:ANKRD18A semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch ncbigene:253650 semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:29397 semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:TMEM132B semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch ncbigene:114795 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:28430 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:EMC6 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch ncbigene:83460 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:24079 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:ANKRD36 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch ncbigene:375248 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:26699 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:OOSP2 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch ncbigene:219990 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:28180 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:PGAP4 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch ncbigene:84302 semapv:UnspecifiedMatching +OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive skos:exactMatch MONDO:0859517 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:27750 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:RIMOC1 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch ncbigene:285636 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:24326 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:RMC1 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch ncbigene:29919 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:29363 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:FHDC1 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch ncbigene:85462 semapv:UnspecifiedMatching +OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia skos:exactMatch MONDO:0859518 semapv:UnspecifiedMatching +OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities skos:exactMatch MONDO:0859519 semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:28948 semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:TMEM41B semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch ncbigene:440026 semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:27563 semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:TMEM235 semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch ncbigene:283999 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:23999 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:EMC3 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch ncbigene:55831 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:29934 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:WDR87 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch ncbigene:83889 semapv:UnspecifiedMatching +OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 skos:exactMatch MONDO:0859520 semapv:UnspecifiedMatching +OMIM:620276 oocyte/zygote/embryo maturation arrest 14 skos:exactMatch MONDO:0859521 semapv:UnspecifiedMatching +OMIM:620277 spermatogenic failure 81 skos:exactMatch MONDO:0859522 semapv:UnspecifiedMatching +OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant skos:exactMatch MONDO:0859523 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:26383 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:DAW1 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch ncbigene:164781 semapv:UnspecifiedMatching +OMIM:620280 deafness, autosomal dominant 86 skos:exactMatch MONDO:0859524 semapv:UnspecifiedMatching +OMIM:620281 deafness, autosomal dominant 87 skos:exactMatch MONDO:0859525 semapv:UnspecifiedMatching +OMIM:620282 immunodeficiency 109 with lymphoproliferation skos:exactMatch MONDO:0859526 semapv:UnspecifiedMatching +OMIM:620283 deafness, autosomal dominant 88 skos:exactMatch MONDO:0859527 semapv:UnspecifiedMatching +OMIM:620284 deafness, autosomal dominant 89 skos:exactMatch MONDO:0859528 semapv:UnspecifiedMatching +OMIM:620285 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch MONDO:0859529 semapv:UnspecifiedMatching +OMIM:620286 myopathy, sarcoplasmic body skos:exactMatch MONDO:0859530 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:26572 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:TMEM71 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch ncbigene:137835 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:30233 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:TEDDM1 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch ncbigene:127670 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:28837 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:TMEM234 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch ncbigene:56063 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:25201 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:TMEM219 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch ncbigene:124446 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:17956 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:WDR18 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch ncbigene:57418 semapv:UnspecifiedMatching +OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures skos:exactMatch MONDO:0859531 semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:1168 semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:TMEM9B semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch ncbigene:56674 semapv:UnspecifiedMatching +OMIM:620294 congenital heart defects, multiple types, 9 skos:exactMatch MONDO:0859532 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:23686 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:DCAF10 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch ncbigene:79269 semapv:UnspecifiedMatching +OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis skos:exactMatch MONDO:0957204 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:20753 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:SLC35A4 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch ncbigene:113829 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:20792 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:SLC35A5 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch ncbigene:55032 semapv:UnspecifiedMatching +OMIM:620299 MFSD4A skos:exactMatch hgnc.symbol:25433 semapv:UnspecifiedMatching +OMIM:620299 MFSD4A skos:exactMatch hgnc.symbol:MFSD4A semapv:UnspecifiedMatching +OMIM:620299 MFSD4A skos:exactMatch ncbigene:148808 semapv:UnspecifiedMatching +OMIM:620300 mitochondrial trifunctional protein deficiency 2 skos:exactMatch MONDO:0958185 semapv:UnspecifiedMatching +OMIM:620301 MFSD9 skos:exactMatch hgnc.symbol:28158 semapv:UnspecifiedMatching +OMIM:620301 MFSD9 skos:exactMatch hgnc.symbol:MFSD9 semapv:UnspecifiedMatching +OMIM:620301 MFSD9 skos:exactMatch ncbigene:84804 semapv:UnspecifiedMatching +OMIM:620302 WDR76 skos:exactMatch hgnc.symbol:25773 semapv:UnspecifiedMatching +OMIM:620302 WDR76 skos:exactMatch hgnc.symbol:WDR76 semapv:UnspecifiedMatching +OMIM:620302 WDR76 skos:exactMatch ncbigene:79968 semapv:UnspecifiedMatching +OMIM:620303 pituitary hormone deficiency, combined or isolated, 8 skos:exactMatch MONDO:0957208 semapv:UnspecifiedMatching +OMIM:620304 NOL9 skos:exactMatch hgnc.symbol:26265 semapv:UnspecifiedMatching +OMIM:620304 NOL9 skos:exactMatch hgnc.symbol:NOL9 semapv:UnspecifiedMatching +OMIM:620304 NOL9 skos:exactMatch ncbigene:79707 semapv:UnspecifiedMatching +OMIM:620305 neurooculorenal syndrome skos:exactMatch MONDO:0957210 semapv:UnspecifiedMatching +OMIM:620306 neurodegeneration and seizures due to copper transport defect skos:exactMatch MONDO:0957211 semapv:UnspecifiedMatching +OMIM:620307 WDR24 skos:exactMatch hgnc.symbol:20852 semapv:UnspecifiedMatching +OMIM:620307 WDR24 skos:exactMatch hgnc.symbol:WDR24 semapv:UnspecifiedMatching +OMIM:620307 WDR24 skos:exactMatch ncbigene:84219 semapv:UnspecifiedMatching +OMIM:620308 MFSD3 skos:exactMatch hgnc.symbol:25157 semapv:UnspecifiedMatching +OMIM:620308 MFSD3 skos:exactMatch hgnc.symbol:MFSD3 semapv:UnspecifiedMatching +OMIM:620308 MFSD3 skos:exactMatch ncbigene:113655 semapv:UnspecifiedMatching +OMIM:620309 FAM171B skos:exactMatch hgnc.symbol:29412 semapv:UnspecifiedMatching +OMIM:620309 FAM171B skos:exactMatch hgnc.symbol:FAM171B semapv:UnspecifiedMatching +OMIM:620309 FAM171B skos:exactMatch ncbigene:165215 semapv:UnspecifiedMatching +OMIM:620310 congenital myopathy 20 skos:exactMatch MONDO:0957215 semapv:UnspecifiedMatching +OMIM:620311 premature ovarian failure 21 skos:exactMatch MONDO:0957216 semapv:UnspecifiedMatching +OMIM:620312 leukoencephalopathy with vanishing white matter 2 skos:exactMatch MONDO:0957870 semapv:UnspecifiedMatching +OMIM:620313 leukoencephalopathy with vanishing white matter 3 skos:exactMatch MONDO:0957871 semapv:UnspecifiedMatching +OMIM:620314 leukoencephalopathy with vanishing white matter 4 skos:exactMatch MONDO:0957872 semapv:UnspecifiedMatching +OMIM:620315 leukoencephalopathy with vanishing white matter 5 skos:exactMatch MONDO:0957873 semapv:UnspecifiedMatching +OMIM:620316 cortical dysplasia, complex, with other brain malformations 12 skos:exactMatch MONDO:0957217 semapv:UnspecifiedMatching +OMIM:620317 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities skos:exactMatch MONDO:0957218 semapv:UnspecifiedMatching +OMIM:620318 SLC49A3 skos:exactMatch hgnc.symbol:26177 semapv:UnspecifiedMatching +OMIM:620318 SLC49A3 skos:exactMatch hgnc.symbol:SLC49A3 semapv:UnspecifiedMatching +OMIM:620318 SLC49A3 skos:exactMatch ncbigene:84179 semapv:UnspecifiedMatching +OMIM:620319 oocyte/zygote/embryo maturation arrest 17 skos:exactMatch MONDO:0957220 semapv:UnspecifiedMatching +OMIM:620320 hematuria, benign familial, 2 skos:exactMatch MONDO:0958186 semapv:UnspecifiedMatching +OMIM:620321 c1q deficiency 2 skos:exactMatch MONDO:0958187 semapv:UnspecifiedMatching +OMIM:620322 c1q deficiency 3 skos:exactMatch MONDO:0958188 semapv:UnspecifiedMatching +OMIM:620323 spastic paraplegia 70, autosomal recessive skos:exactMatch MONDO:0957221 semapv:UnspecifiedMatching +OMIM:620324 SLC15A5 skos:exactMatch hgnc.symbol:33455 semapv:UnspecifiedMatching +OMIM:620324 SLC15A5 skos:exactMatch hgnc.symbol:SLC15A5 semapv:UnspecifiedMatching +OMIM:620324 SLC15A5 skos:exactMatch ncbigene:729025 semapv:UnspecifiedMatching +OMIM:620325 TMEM144 skos:exactMatch hgnc.symbol:25633 semapv:UnspecifiedMatching +OMIM:620325 TMEM144 skos:exactMatch hgnc.symbol:TMEM144 semapv:UnspecifiedMatching +OMIM:620325 TMEM144 skos:exactMatch ncbigene:55314 semapv:UnspecifiedMatching +OMIM:620326 congenital myopathy 21 with early respiratory failure skos:exactMatch MONDO:0957224 semapv:UnspecifiedMatching +OMIM:620327 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities skos:exactMatch MONDO:0957225 semapv:UnspecifiedMatching +OMIM:620328 SLC44A3 skos:exactMatch hgnc.symbol:28689 semapv:UnspecifiedMatching +OMIM:620328 SLC44A3 skos:exactMatch hgnc.symbol:SLC44A3 semapv:UnspecifiedMatching +OMIM:620328 SLC44A3 skos:exactMatch ncbigene:126969 semapv:UnspecifiedMatching +OMIM:620329 SLC44A5 skos:exactMatch hgnc.symbol:28524 semapv:UnspecifiedMatching +OMIM:620329 SLC44A5 skos:exactMatch hgnc.symbol:SLC44A5 semapv:UnspecifiedMatching +OMIM:620329 SLC44A5 skos:exactMatch ncbigene:204962 semapv:UnspecifiedMatching +OMIM:620330 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities skos:exactMatch MONDO:0957228 semapv:UnspecifiedMatching +OMIM:620331 hatipoglu immunodeficiency syndrome skos:exactMatch MONDO:0957229 semapv:UnspecifiedMatching +OMIM:620332 oocyte/zygote/embryo maturation arrest 18 skos:exactMatch MONDO:0957230 semapv:UnspecifiedMatching +OMIM:620333 oocyte/zygote/embryo maturation arrest 19 skos:exactMatch MONDO:0957231 semapv:UnspecifiedMatching +OMIM:620334 TRIM42 skos:exactMatch hgnc.symbol:19014 semapv:UnspecifiedMatching +OMIM:620334 TRIM42 skos:exactMatch hgnc.symbol:TRIM42 semapv:UnspecifiedMatching +OMIM:620334 TRIM42 skos:exactMatch ncbigene:287015 semapv:UnspecifiedMatching +OMIM:620335 CDC20B skos:exactMatch hgnc.symbol:24222 semapv:UnspecifiedMatching +OMIM:620335 CDC20B skos:exactMatch hgnc.symbol:CDC20B semapv:UnspecifiedMatching +OMIM:620335 CDC20B skos:exactMatch ncbigene:166979 semapv:UnspecifiedMatching +OMIM:620336 ZSWIM3 skos:exactMatch hgnc.symbol:16157 semapv:UnspecifiedMatching +OMIM:620336 ZSWIM3 skos:exactMatch hgnc.symbol:ZSWIM3 semapv:UnspecifiedMatching +OMIM:620336 ZSWIM3 skos:exactMatch ncbigene:140831 semapv:UnspecifiedMatching +OMIM:620337 SLC35E1 skos:exactMatch hgnc.symbol:20803 semapv:UnspecifiedMatching +OMIM:620337 SLC35E1 skos:exactMatch hgnc.symbol:SLC35E1 semapv:UnspecifiedMatching +OMIM:620337 SLC35E1 skos:exactMatch ncbigene:79939 semapv:UnspecifiedMatching +OMIM:620338 SLC9C2 skos:exactMatch hgnc.symbol:28664 semapv:UnspecifiedMatching +OMIM:620338 SLC9C2 skos:exactMatch hgnc.symbol:SLC9C2 semapv:UnspecifiedMatching +OMIM:620338 SLC9C2 skos:exactMatch ncbigene:284525 semapv:UnspecifiedMatching +OMIM:620339 SLC23A3 skos:exactMatch hgnc.symbol:20601 semapv:UnspecifiedMatching +OMIM:620339 SLC23A3 skos:exactMatch hgnc.symbol:SLC23A3 semapv:UnspecifiedMatching +OMIM:620339 SLC23A3 skos:exactMatch ncbigene:151295 semapv:UnspecifiedMatching +OMIM:620340 NIPAL1 skos:exactMatch hgnc.symbol:27194 semapv:UnspecifiedMatching +OMIM:620340 NIPAL1 skos:exactMatch hgnc.symbol:NIPAL1 semapv:UnspecifiedMatching +OMIM:620340 NIPAL1 skos:exactMatch ncbigene:152519 semapv:UnspecifiedMatching +OMIM:620341 WDR75 skos:exactMatch hgnc.symbol:25725 semapv:UnspecifiedMatching +OMIM:620341 WDR75 skos:exactMatch hgnc.symbol:WDR75 semapv:UnspecifiedMatching +OMIM:620341 WDR75 skos:exactMatch ncbigene:84128 semapv:UnspecifiedMatching +OMIM:620342 cone-rod dystrophy 24 skos:exactMatch MONDO:0957240 semapv:UnspecifiedMatching +OMIM:620343 basal cell nevus syndrome 2 skos:exactMatch MONDO:0958189 semapv:UnspecifiedMatching +OMIM:620344 prolonged electroretinal response suppression 2 skos:exactMatch MONDO:0958190 semapv:UnspecifiedMatching +OMIM:620345 MFSD5 skos:exactMatch hgnc.symbol:28156 semapv:UnspecifiedMatching +OMIM:620345 MFSD5 skos:exactMatch hgnc.symbol:MFSD5 semapv:UnspecifiedMatching +OMIM:620345 MFSD5 skos:exactMatch ncbigene:84975 semapv:UnspecifiedMatching +OMIM:620346 MFSD11 skos:exactMatch hgnc.symbol:25458 semapv:UnspecifiedMatching +OMIM:620346 MFSD11 skos:exactMatch hgnc.symbol:MFSD11 semapv:UnspecifiedMatching +OMIM:620346 MFSD11 skos:exactMatch ncbigene:79157 semapv:UnspecifiedMatching +OMIM:620347 MFSD14A skos:exactMatch hgnc.symbol:23363 semapv:UnspecifiedMatching +OMIM:620347 MFSD14A skos:exactMatch hgnc.symbol:MFSD14A semapv:UnspecifiedMatching +OMIM:620347 MFSD14A skos:exactMatch ncbigene:64645 semapv:UnspecifiedMatching +OMIM:620348 MFSD14B skos:exactMatch hgnc.symbol:23376 semapv:UnspecifiedMatching +OMIM:620348 MFSD14B skos:exactMatch hgnc.symbol:MFSD14B semapv:UnspecifiedMatching +OMIM:620348 MFSD14B skos:exactMatch ncbigene:84641 semapv:UnspecifiedMatching +OMIM:620349 SLC35F1 skos:exactMatch hgnc.symbol:21483 semapv:UnspecifiedMatching +OMIM:620349 SLC35F1 skos:exactMatch hgnc.symbol:SLC35F1 semapv:UnspecifiedMatching +OMIM:620349 SLC35F1 skos:exactMatch ncbigene:222553 semapv:UnspecifiedMatching +OMIM:620350 SLC35F2 skos:exactMatch hgnc.symbol:23615 semapv:UnspecifiedMatching +OMIM:620350 SLC35F2 skos:exactMatch hgnc.symbol:SLC35F2 semapv:UnspecifiedMatching +OMIM:620350 SLC35F2 skos:exactMatch ncbigene:54733 semapv:UnspecifiedMatching +OMIM:620351 congenital myopathy 22a, classic skos:exactMatch MONDO:0957247 semapv:UnspecifiedMatching +OMIM:620352 developmental and epileptic encephalopathy 31b skos:exactMatch MONDO:0957248 semapv:UnspecifiedMatching +OMIM:620353 spermatogenic failure 82 skos:exactMatch MONDO:0957249 semapv:UnspecifiedMatching +OMIM:620354 spermatogenic failure 83 skos:exactMatch MONDO:0957250 semapv:UnspecifiedMatching +OMIM:620355 SLC35E3 skos:exactMatch hgnc.symbol:20864 semapv:UnspecifiedMatching +OMIM:620355 SLC35E3 skos:exactMatch hgnc.symbol:SLC35E3 semapv:UnspecifiedMatching +OMIM:620355 SLC35E3 skos:exactMatch ncbigene:55508 semapv:UnspecifiedMatching +OMIM:620356 ciliary dyskinesia, primary, 50 skos:exactMatch MONDO:0957252 semapv:UnspecifiedMatching +OMIM:620357 diarrhea 13 skos:exactMatch MONDO:0957253 semapv:UnspecifiedMatching +OMIM:620358 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4a skos:exactMatch MONDO:0957254 semapv:UnspecifiedMatching +OMIM:620359 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 7 skos:exactMatch MONDO:0957255 semapv:UnspecifiedMatching +OMIM:620360 TPRX2 skos:exactMatch hgnc.symbol:32175 semapv:UnspecifiedMatching +OMIM:620360 TPRX2 skos:exactMatch hgnc.symbol:TPRX2 semapv:UnspecifiedMatching +OMIM:620360 TPRX2 skos:exactMatch ncbigene:503627 semapv:UnspecifiedMatching +OMIM:620361 RNU5D-1 skos:exactMatch hgnc.symbol:10214 semapv:UnspecifiedMatching +OMIM:620361 RNU5D-1 skos:exactMatch hgnc.symbol:RNU5D-1 semapv:UnspecifiedMatching +OMIM:620361 RNU5D-1 skos:exactMatch ncbigene:26830 semapv:UnspecifiedMatching +OMIM:620362 RNU5E-1 skos:exactMatch hgnc.symbol:10215 semapv:UnspecifiedMatching +OMIM:620362 RNU5E-1 skos:exactMatch hgnc.symbol:RNU5E-1 semapv:UnspecifiedMatching +OMIM:620362 RNU5E-1 skos:exactMatch ncbigene:26829 semapv:UnspecifiedMatching +OMIM:620363 RNU5F-1 skos:exactMatch hgnc.symbol:10216 semapv:UnspecifiedMatching +OMIM:620363 RNU5F-1 skos:exactMatch hgnc.symbol:RNU5F-1 semapv:UnspecifiedMatching +OMIM:620363 RNU5F-1 skos:exactMatch ncbigene:26828 semapv:UnspecifiedMatching +OMIM:620364 combined low ldl and fibrinogen skos:exactMatch MONDO:0957260 semapv:UnspecifiedMatching +OMIM:620365 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 skos:exactMatch MONDO:0957261 semapv:UnspecifiedMatching +OMIM:620366 osteopetrosis, autosomal recessive 9 skos:exactMatch MONDO:0957262 semapv:UnspecifiedMatching +OMIM:620367 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 skos:exactMatch MONDO:0957263 semapv:UnspecifiedMatching +OMIM:620368 cerebroretinal microangiopathy with calcifications and cysts 3 skos:exactMatch MONDO:0957264 semapv:UnspecifiedMatching +OMIM:620369 congenital myopathy 22b, severe fetal skos:exactMatch MONDO:0957265 semapv:UnspecifiedMatching +OMIM:620370 recon progeroid syndrome skos:exactMatch MONDO:0957266 semapv:UnspecifiedMatching +OMIM:620371 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity skos:exactMatch MONDO:0957267 semapv:UnspecifiedMatching +OMIM:620372 hypersulfaturia skos:exactMatch MONDO:0957268 semapv:UnspecifiedMatching +OMIM:620373 ADISSP skos:exactMatch hgnc.symbol:ADISSP semapv:UnspecifiedMatching +OMIM:620373 ADISSP skos:exactMatch ncbigene:54976 semapv:UnspecifiedMatching +OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis skos:exactMatch MONDO:0958191 semapv:UnspecifiedMatching +OMIM:620375 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:exactMatch MONDO:0957270 semapv:UnspecifiedMatching +OMIM:620376 autoinflammatory disease, systemic, with vasculitis skos:exactMatch MONDO:0957271 semapv:UnspecifiedMatching +OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:21099 semapv:UnspecifiedMatching +OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:ARMC12 semapv:UnspecifiedMatching +OMIM:620377 ARMC12 skos:exactMatch ncbigene:221481 semapv:UnspecifiedMatching +OMIM:620378 charcot-marie-tooth disease, dominant intermediate a skos:exactMatch MONDO:0957273 semapv:UnspecifiedMatching +OMIM:620379 spastic paraplegia 89, autosomal recessive skos:exactMatch MONDO:0957274 semapv:UnspecifiedMatching +OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:14648 semapv:UnspecifiedMatching +OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:LETM2 semapv:UnspecifiedMatching +OMIM:620380 LETM2 skos:exactMatch ncbigene:137994 semapv:UnspecifiedMatching +OMIM:620381 CFAP61 skos:exactMatch hgnc.symbol:15872 semapv:UnspecifiedMatching +OMIM:620381 CFAP61 skos:exactMatch hgnc.symbol:CFAP61 semapv:UnspecifiedMatching +OMIM:620381 CFAP61 skos:exactMatch ncbigene:26074 semapv:UnspecifiedMatching +OMIM:620382 ZCCHC9 skos:exactMatch hgnc.symbol:25424 semapv:UnspecifiedMatching +OMIM:620382 ZCCHC9 skos:exactMatch hgnc.symbol:ZCCHC9 semapv:UnspecifiedMatching +OMIM:620382 ZCCHC9 skos:exactMatch ncbigene:84240 semapv:UnspecifiedMatching +OMIM:620383 oocyte/zygote/embryo maturation arrest 20 skos:exactMatch MONDO:0957278 semapv:UnspecifiedMatching +OMIM:620384 auditory neuropathy, autosomal dominant 2 skos:exactMatch MONDO:0957279 semapv:UnspecifiedMatching +OMIM:620385 ARMC1 skos:exactMatch hgnc.symbol:17684 semapv:UnspecifiedMatching +OMIM:620385 ARMC1 skos:exactMatch hgnc.symbol:ARMC1 semapv:UnspecifiedMatching +OMIM:620385 ARMC1 skos:exactMatch ncbigene:55156 semapv:UnspecifiedMatching +OMIM:620386 nemaline myopathy 5b, autosomal recessive, childhood-onset skos:exactMatch MONDO:0957281 semapv:UnspecifiedMatching +OMIM:620387 TBC1D21 skos:exactMatch hgnc.symbol:28536 semapv:UnspecifiedMatching +OMIM:620387 TBC1D21 skos:exactMatch hgnc.symbol:TBC1D21 semapv:UnspecifiedMatching +OMIM:620387 TBC1D21 skos:exactMatch ncbigene:161514 semapv:UnspecifiedMatching +OMIM:620388 DBNDD1 skos:exactMatch hgnc.symbol:28455 semapv:UnspecifiedMatching +OMIM:620388 DBNDD1 skos:exactMatch hgnc.symbol:DBNDD1 semapv:UnspecifiedMatching +OMIM:620388 DBNDD1 skos:exactMatch ncbigene:79007 semapv:UnspecifiedMatching +OMIM:620389 nemaline myopathy 5c, autosomal dominant skos:exactMatch MONDO:0957284 semapv:UnspecifiedMatching +OMIM:620390 HEATR1 skos:exactMatch hgnc.symbol:25517 semapv:UnspecifiedMatching +OMIM:620390 HEATR1 skos:exactMatch hgnc.symbol:HEATR1 semapv:UnspecifiedMatching +OMIM:620390 HEATR1 skos:exactMatch ncbigene:55127 semapv:UnspecifiedMatching +OMIM:620391 PARP16 skos:exactMatch hgnc.symbol:26040 semapv:UnspecifiedMatching +OMIM:620391 PARP16 skos:exactMatch hgnc.symbol:PARP16 semapv:UnspecifiedMatching +OMIM:620391 PARP16 skos:exactMatch ncbigene:54956 semapv:UnspecifiedMatching +OMIM:620392 ABITRAM skos:exactMatch hgnc.symbol:1364 semapv:UnspecifiedMatching +OMIM:620392 ABITRAM skos:exactMatch hgnc.symbol:ABITRAM semapv:UnspecifiedMatching +OMIM:620392 ABITRAM skos:exactMatch ncbigene:54942 semapv:UnspecifiedMatching +OMIM:620393 intellectual developmental disorder, autosomal recessive 79 skos:exactMatch MONDO:0957288 semapv:UnspecifiedMatching +OMIM:620394 PSKH2 skos:exactMatch hgnc.symbol:18997 semapv:UnspecifiedMatching +OMIM:620394 PSKH2 skos:exactMatch hgnc.symbol:PSKH2 semapv:UnspecifiedMatching +OMIM:620394 PSKH2 skos:exactMatch ncbigene:85481 semapv:UnspecifiedMatching +OMIM:620395 CCNJ skos:exactMatch hgnc.symbol:23434 semapv:UnspecifiedMatching +OMIM:620395 CCNJ skos:exactMatch hgnc.symbol:CCNJ semapv:UnspecifiedMatching +OMIM:620395 CCNJ skos:exactMatch ncbigene:54619 semapv:UnspecifiedMatching +OMIM:620396 CCNP skos:exactMatch hgnc.symbol:25805 semapv:UnspecifiedMatching +OMIM:620396 CCNP skos:exactMatch hgnc.symbol:CCNP semapv:UnspecifiedMatching +OMIM:620396 CCNP skos:exactMatch ncbigene:79935 semapv:UnspecifiedMatching +OMIM:620397 AUNIP skos:exactMatch hgnc.symbol:28363 semapv:UnspecifiedMatching +OMIM:620397 AUNIP skos:exactMatch hgnc.symbol:AUNIP semapv:UnspecifiedMatching +OMIM:620397 AUNIP skos:exactMatch ncbigene:79000 semapv:UnspecifiedMatching +OMIM:620398 glycine encephalopathy 2 skos:exactMatch MONDO:0958192 semapv:UnspecifiedMatching +OMIM:620399 ADCK1 skos:exactMatch hgnc.symbol:19038 semapv:UnspecifiedMatching +OMIM:620399 ADCK1 skos:exactMatch hgnc.symbol:ADCK1 semapv:UnspecifiedMatching +OMIM:620399 ADCK1 skos:exactMatch ncbigene:57143 semapv:UnspecifiedMatching +OMIM:620400 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 skos:exactMatch MONDO:0957294 semapv:UnspecifiedMatching +OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch MONDO:0957874 semapv:UnspecifiedMatching +OMIM:620403 INKA2 skos:exactMatch hgnc.symbol:28045 semapv:UnspecifiedMatching +OMIM:620403 INKA2 skos:exactMatch hgnc.symbol:INKA2 semapv:UnspecifiedMatching +OMIM:620403 INKA2 skos:exactMatch ncbigene:55924 semapv:UnspecifiedMatching +OMIM:620404 CSRNP2 skos:exactMatch hgnc.symbol:16006 semapv:UnspecifiedMatching +OMIM:620404 CSRNP2 skos:exactMatch hgnc.symbol:CSRNP2 semapv:UnspecifiedMatching +OMIM:620404 CSRNP2 skos:exactMatch ncbigene:81566 semapv:UnspecifiedMatching +OMIM:620405 CSRNP3 skos:exactMatch hgnc.symbol:30729 semapv:UnspecifiedMatching +OMIM:620405 CSRNP3 skos:exactMatch hgnc.symbol:CSRNP3 semapv:UnspecifiedMatching +OMIM:620405 CSRNP3 skos:exactMatch ncbigene:80034 semapv:UnspecifiedMatching +OMIM:620406 MCTS2 skos:exactMatch hgnc.symbol:49760 semapv:UnspecifiedMatching +OMIM:620406 MCTS2 skos:exactMatch hgnc.symbol:MCTS2 semapv:UnspecifiedMatching +OMIM:620406 MCTS2 skos:exactMatch ncbigene:100101490 semapv:UnspecifiedMatching +OMIM:620407 MIMT1 skos:exactMatch hgnc.symbol:33464 semapv:UnspecifiedMatching +OMIM:620407 MIMT1 skos:exactMatch hgnc.symbol:MIMT1 semapv:UnspecifiedMatching +OMIM:620407 MIMT1 skos:exactMatch ncbigene:100073347 semapv:UnspecifiedMatching +OMIM:620408 MIR337 skos:exactMatch hgnc.symbol:31774 semapv:UnspecifiedMatching +OMIM:620408 MIR337 skos:exactMatch hgnc.symbol:MIR337 semapv:UnspecifiedMatching +OMIM:620408 MIR337 skos:exactMatch ncbigene:442905 semapv:UnspecifiedMatching +OMIM:620409 spermatogenic failure 84 skos:exactMatch MONDO:0957301 semapv:UnspecifiedMatching +OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch MONDO:0957303 semapv:UnspecifiedMatching +OMIM:620412 NAMA skos:exactMatch hgnc.symbol:42408 semapv:UnspecifiedMatching +OMIM:620412 NAMA skos:exactMatch hgnc.symbol:NAMA semapv:UnspecifiedMatching +OMIM:620412 NAMA skos:exactMatch ncbigene:100996569 semapv:UnspecifiedMatching +OMIM:620413 GASK1A skos:exactMatch hgnc.symbol:24485 semapv:UnspecifiedMatching +OMIM:620413 GASK1A skos:exactMatch hgnc.symbol:GASK1A semapv:UnspecifiedMatching +OMIM:620413 GASK1A skos:exactMatch ncbigene:729085 semapv:UnspecifiedMatching +OMIM:620414 SBK2 skos:exactMatch hgnc.symbol:34416 semapv:UnspecifiedMatching +OMIM:620414 SBK2 skos:exactMatch hgnc.symbol:SBK2 semapv:UnspecifiedMatching +OMIM:620414 SBK2 skos:exactMatch ncbigene:646643 semapv:UnspecifiedMatching +OMIM:620415 woolly hair-skin fragility syndrome skos:exactMatch MONDO:0957307 semapv:UnspecifiedMatching +OMIM:620416 spastic paraplegia 90a, autosomal dominant skos:exactMatch MONDO:0957308 semapv:UnspecifiedMatching +OMIM:620417 spastic paraplegia 90b, autosomal recessive skos:exactMatch MONDO:0957309 semapv:UnspecifiedMatching +OMIM:620418 NRIR skos:exactMatch hgnc.symbol:51269 semapv:UnspecifiedMatching +OMIM:620418 NRIR skos:exactMatch hgnc.symbol:NRIR semapv:UnspecifiedMatching +OMIM:620418 NRIR skos:exactMatch ncbigene:104326052 semapv:UnspecifiedMatching +OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:33869 semapv:UnspecifiedMatching +OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:CCNI2 semapv:UnspecifiedMatching +OMIM:620419 CCNI2 skos:exactMatch ncbigene:645121 semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:24318 semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:HIGD1B semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch ncbigene:51751 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:26657 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:DCAF4L2 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch ncbigene:138009 semapv:UnspecifiedMatching +OMIM:620422 retinitis pigmentosa 97 skos:exactMatch MONDO:0957314 semapv:UnspecifiedMatching +OMIM:620423 multiple mitochondrial dysfunctions syndrome 7 skos:exactMatch MONDO:0957382 semapv:UnspecifiedMatching +OMIM:620424 ZAR1L skos:exactMatch hgnc.symbol:37116 semapv:UnspecifiedMatching +OMIM:620424 ZAR1L skos:exactMatch hgnc.symbol:ZAR1L semapv:UnspecifiedMatching +OMIM:620424 ZAR1L skos:exactMatch ncbigene:646799 semapv:UnspecifiedMatching +OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 skos:exactMatch MONDO:0958193 semapv:UnspecifiedMatching +OMIM:620426 INKA1 skos:exactMatch hgnc.symbol:32480 semapv:UnspecifiedMatching +OMIM:620426 INKA1 skos:exactMatch hgnc.symbol:INKA1 semapv:UnspecifiedMatching +OMIM:620426 INKA1 skos:exactMatch ncbigene:389119 semapv:UnspecifiedMatching +OMIM:620427 dystonia 37, early-onset, with striatal lesions skos:exactMatch MONDO:0957385 semapv:UnspecifiedMatching +OMIM:620428 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch MONDO:0957386 semapv:UnspecifiedMatching +OMIM:620429 TMEM64 skos:exactMatch hgnc.symbol:25441 semapv:UnspecifiedMatching +OMIM:620429 TMEM64 skos:exactMatch hgnc.symbol:TMEM64 semapv:UnspecifiedMatching +OMIM:620429 TMEM64 skos:exactMatch ncbigene:169200 semapv:UnspecifiedMatching +OMIM:620430 autoimmune disease, multisystem, infantile-onset, 3 skos:exactMatch MONDO:0957388 semapv:UnspecifiedMatching +OMIM:620431 FLYWCH1 skos:exactMatch hgnc.symbol:25404 semapv:UnspecifiedMatching +OMIM:620431 FLYWCH1 skos:exactMatch hgnc.symbol:FLYWCH1 semapv:UnspecifiedMatching +OMIM:620431 FLYWCH1 skos:exactMatch ncbigene:84256 semapv:UnspecifiedMatching +OMIM:620432 OCSTAMP skos:exactMatch hgnc.symbol:16116 semapv:UnspecifiedMatching +OMIM:620432 OCSTAMP skos:exactMatch hgnc.symbol:OCSTAMP semapv:UnspecifiedMatching +OMIM:620432 OCSTAMP skos:exactMatch ncbigene:128506 semapv:UnspecifiedMatching +OMIM:620433 TMEM186 skos:exactMatch hgnc.symbol:24530 semapv:UnspecifiedMatching +OMIM:620433 TMEM186 skos:exactMatch hgnc.symbol:TMEM186 semapv:UnspecifiedMatching +OMIM:620433 TMEM186 skos:exactMatch ncbigene:25880 semapv:UnspecifiedMatching +OMIM:620434 TMEM223 skos:exactMatch hgnc.symbol:28464 semapv:UnspecifiedMatching +OMIM:620434 TMEM223 skos:exactMatch hgnc.symbol:TMEM223 semapv:UnspecifiedMatching +OMIM:620434 TMEM223 skos:exactMatch ncbigene:79064 semapv:UnspecifiedMatching +OMIM:620435 UQCC5 skos:exactMatch hgnc.symbol:UQCC5 semapv:UnspecifiedMatching +OMIM:620435 UQCC5 skos:exactMatch ncbigene:440957 semapv:UnspecifiedMatching +OMIM:620436 TMED9 skos:exactMatch hgnc.symbol:24878 semapv:UnspecifiedMatching +OMIM:620436 TMED9 skos:exactMatch hgnc.symbol:TMED9 semapv:UnspecifiedMatching +OMIM:620436 TMED9 skos:exactMatch ncbigene:54732 semapv:UnspecifiedMatching +OMIM:620437 TMED3 skos:exactMatch hgnc.symbol:28889 semapv:UnspecifiedMatching +OMIM:620437 TMED3 skos:exactMatch hgnc.symbol:TMED3 semapv:UnspecifiedMatching +OMIM:620437 TMED3 skos:exactMatch ncbigene:23423 semapv:UnspecifiedMatching +OMIM:620438 ciliary dyskinesia, primary, 51 skos:exactMatch MONDO:0957396 semapv:UnspecifiedMatching +OMIM:620439 intellectual developmental disorder, autosomal dominant 72 skos:exactMatch MONDO:0957397 semapv:UnspecifiedMatching +OMIM:620440 GAPT skos:exactMatch hgnc.symbol:26588 semapv:UnspecifiedMatching +OMIM:620440 GAPT skos:exactMatch hgnc.symbol:GAPT semapv:UnspecifiedMatching +OMIM:620440 GAPT skos:exactMatch ncbigene:202309 semapv:UnspecifiedMatching +OMIM:620441 ZNF470 skos:exactMatch hgnc.symbol:22220 semapv:UnspecifiedMatching +OMIM:620441 ZNF470 skos:exactMatch hgnc.symbol:ZNF470 semapv:UnspecifiedMatching +OMIM:620441 ZNF470 skos:exactMatch ncbigene:388566 semapv:UnspecifiedMatching +OMIM:620442 breast-ovarian cancer, familial, susceptibility to, 5 skos:exactMatch MONDO:0957530 semapv:UnspecifiedMatching +OMIM:620443 disabling pansclerotic morphea of childhood skos:exactMatch MONDO:0957497 semapv:UnspecifiedMatching +OMIM:620444 craniofacial microsomia 2 skos:exactMatch MONDO:0958194 semapv:UnspecifiedMatching +OMIM:620445 neurodevelopmental disorder with microcephaly and movement abnormalities skos:exactMatch MONDO:0957531 semapv:UnspecifiedMatching +OMIM:620446 TSPAN17 skos:exactMatch hgnc.symbol:13594 semapv:UnspecifiedMatching +OMIM:620446 TSPAN17 skos:exactMatch hgnc.symbol:TSPAN17 semapv:UnspecifiedMatching +OMIM:620446 TSPAN17 skos:exactMatch ncbigene:26262 semapv:UnspecifiedMatching +OMIM:620447 megalencephalic leukoencephalopathy with subcortical cysts 3 skos:exactMatch MONDO:0957533 semapv:UnspecifiedMatching +OMIM:620448 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting skos:exactMatch MONDO:0957534 semapv:UnspecifiedMatching +OMIM:620449 immunodeficiency 112 skos:exactMatch MONDO:0957535 semapv:UnspecifiedMatching +OMIM:620450 intellectual developmental disorder, autosomal dominant 73 skos:exactMatch MONDO:0957536 semapv:UnspecifiedMatching +OMIM:620451 combined oxidative phosphorylation deficiency 58 skos:exactMatch MONDO:0957537 semapv:UnspecifiedMatching +OMIM:620452 amyotrophic lateral sclerosis 28 skos:exactMatch MONDO:0957538 semapv:UnspecifiedMatching +OMIM:620453 dystonia 22, juvenile-onset skos:exactMatch MONDO:0957539 semapv:UnspecifiedMatching +OMIM:620454 congenital disorder of glycosylation, iia iiaa skos:exactMatch MONDO:0957540 semapv:UnspecifiedMatching +OMIM:620455 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch MONDO:0957541 semapv:UnspecifiedMatching +OMIM:620456 dystonia 22, adult-onset skos:exactMatch MONDO:0957542 semapv:UnspecifiedMatching +OMIM:620457 auriculocondylar syndrome 4 skos:exactMatch MONDO:0957543 semapv:UnspecifiedMatching +OMIM:620458 auriculocondylar syndrome 2b skos:exactMatch MONDO:0957544 semapv:UnspecifiedMatching +OMIM:620459 birt-hogg-dube syndrome 2 skos:exactMatch MONDO:0800455 semapv:UnspecifiedMatching +OMIM:620460 oculopharyngeal muscular dystrophy 2 skos:exactMatch MONDO:0958195 semapv:UnspecifiedMatching +OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 skos:exactMatch MONDO:0957561 semapv:UnspecifiedMatching +OMIM:620462 cardiomyopathy, dilated, 2i skos:exactMatch MONDO:0957545 semapv:UnspecifiedMatching +OMIM:620463 EDRF1 skos:exactMatch hgnc.symbol:24640 semapv:UnspecifiedMatching +OMIM:620463 EDRF1 skos:exactMatch hgnc.symbol:EDRF1 semapv:UnspecifiedMatching +OMIM:620463 EDRF1 skos:exactMatch ncbigene:26098 semapv:UnspecifiedMatching +OMIM:620464 RCOR3 skos:exactMatch hgnc.symbol:25594 semapv:UnspecifiedMatching +OMIM:620464 RCOR3 skos:exactMatch hgnc.symbol:RCOR3 semapv:UnspecifiedMatching +OMIM:620464 RCOR3 skos:exactMatch ncbigene:55758 semapv:UnspecifiedMatching +OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch MONDO:0958196 semapv:UnspecifiedMatching +OMIM:620466 ZNF28 skos:exactMatch hgnc.symbol:13073 semapv:UnspecifiedMatching +OMIM:620466 ZNF28 skos:exactMatch hgnc.symbol:ZNF28 semapv:UnspecifiedMatching +OMIM:620466 ZNF28 skos:exactMatch ncbigene:7576 semapv:UnspecifiedMatching +OMIM:620467 LARP1B skos:exactMatch hgnc.symbol:24704 semapv:UnspecifiedMatching +OMIM:620467 LARP1B skos:exactMatch hgnc.symbol:LARP1B semapv:UnspecifiedMatching +OMIM:620467 LARP1B skos:exactMatch ncbigene:55132 semapv:UnspecifiedMatching +OMIM:620468 VRTN skos:exactMatch hgnc.symbol:20223 semapv:UnspecifiedMatching +OMIM:620468 VRTN skos:exactMatch hgnc.symbol:VRTN semapv:UnspecifiedMatching +OMIM:620468 VRTN skos:exactMatch ncbigene:55237 semapv:UnspecifiedMatching +OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay skos:exactMatch MONDO:0957563 semapv:UnspecifiedMatching +OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy skos:exactMatch MONDO:0957564 semapv:UnspecifiedMatching +OMIM:620471 FOXO3B skos:exactMatch hgnc.symbol:3822 semapv:UnspecifiedMatching +OMIM:620471 FOXO3B skos:exactMatch hgnc.symbol:FOXO3B semapv:UnspecifiedMatching +OMIM:620471 FOXO3B skos:exactMatch ncbigene:2310 semapv:UnspecifiedMatching +OMIM:620472 TRAPPC2B skos:exactMatch hgnc.symbol:10710 semapv:UnspecifiedMatching +OMIM:620472 TRAPPC2B skos:exactMatch hgnc.symbol:TRAPPC2B semapv:UnspecifiedMatching +OMIM:620472 TRAPPC2B skos:exactMatch ncbigene:10597 semapv:UnspecifiedMatching +OMIM:620473 ZNHIT6 skos:exactMatch hgnc.symbol:26089 semapv:UnspecifiedMatching +OMIM:620473 ZNHIT6 skos:exactMatch hgnc.symbol:ZNHIT6 semapv:UnspecifiedMatching +OMIM:620473 ZNHIT6 skos:exactMatch ncbigene:54680 semapv:UnspecifiedMatching +OMIM:620474 AAMDC skos:exactMatch hgnc.symbol:30205 semapv:UnspecifiedMatching +OMIM:620474 AAMDC skos:exactMatch hgnc.symbol:AAMDC semapv:UnspecifiedMatching +OMIM:620474 AAMDC skos:exactMatch ncbigene:28971 semapv:UnspecifiedMatching +OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay skos:exactMatch MONDO:0100433 semapv:UnspecifiedMatching +OMIM:620476 MRTO4 skos:exactMatch hgnc.symbol:18477 semapv:UnspecifiedMatching +OMIM:620476 MRTO4 skos:exactMatch hgnc.symbol:MRTO4 semapv:UnspecifiedMatching +OMIM:620476 MRTO4 skos:exactMatch ncbigene:51154 semapv:UnspecifiedMatching +OMIM:620477 ZG16B skos:exactMatch hgnc.symbol:30456 semapv:UnspecifiedMatching +OMIM:620477 ZG16B skos:exactMatch hgnc.symbol:ZG16B semapv:UnspecifiedMatching +OMIM:620477 ZG16B skos:exactMatch ncbigene:124220 semapv:UnspecifiedMatching +OMIM:620478 thrombocytopenia 9 skos:exactMatch MONDO:0957572 semapv:UnspecifiedMatching +OMIM:620479 CSTPP1 skos:exactMatch hgnc.symbol:28720 semapv:UnspecifiedMatching +OMIM:620479 CSTPP1 skos:exactMatch hgnc.symbol:CSTPP1 semapv:UnspecifiedMatching +OMIM:620479 CSTPP1 skos:exactMatch ncbigene:79096 semapv:UnspecifiedMatching +OMIM:620480 TRIML2 skos:exactMatch hgnc.symbol:26378 semapv:UnspecifiedMatching +OMIM:620480 TRIML2 skos:exactMatch hgnc.symbol:TRIML2 semapv:UnspecifiedMatching +OMIM:620480 TRIML2 skos:exactMatch ncbigene:205860 semapv:UnspecifiedMatching +OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch MONDO:0957575 semapv:UnspecifiedMatching +OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch MONDO:0957576 semapv:UnspecifiedMatching +OMIM:620483 variegate porphyria, childhood-onset skos:exactMatch MONDO:0957577 semapv:UnspecifiedMatching +OMIM:620484 thrombocytopenia 10 skos:exactMatch MONDO:0957578 semapv:UnspecifiedMatching +OMIM:620485 TTLL13 skos:exactMatch hgnc.symbol:32484 semapv:UnspecifiedMatching +OMIM:620485 TTLL13 skos:exactMatch hgnc.symbol:TTLL13 semapv:UnspecifiedMatching +OMIM:620485 TTLL13 skos:exactMatch ncbigene:440307 semapv:UnspecifiedMatching +OMIM:620486 bleeding disorder, platelet-type, 25 skos:exactMatch MONDO:0957580 semapv:UnspecifiedMatching +OMIM:620487 CPLANE2 skos:exactMatch hgnc.symbol:28127 semapv:UnspecifiedMatching +OMIM:620487 CPLANE2 skos:exactMatch hgnc.symbol:CPLANE2 semapv:UnspecifiedMatching +OMIM:620487 CPLANE2 skos:exactMatch ncbigene:79363 semapv:UnspecifiedMatching +OMIM:620488 NFXL1 skos:exactMatch hgnc.symbol:18726 semapv:UnspecifiedMatching +OMIM:620488 NFXL1 skos:exactMatch hgnc.symbol:NFXL1 semapv:UnspecifiedMatching +OMIM:620488 NFXL1 skos:exactMatch ncbigene:152518 semapv:UnspecifiedMatching +OMIM:620489 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch MONDO:0957583 semapv:UnspecifiedMatching +OMIM:620490 spermatogenic failure 85 skos:exactMatch MONDO:0957584 semapv:UnspecifiedMatching +OMIM:620491 MTURN skos:exactMatch hgnc.symbol:25457 semapv:UnspecifiedMatching +OMIM:620491 MTURN skos:exactMatch hgnc.symbol:MTURN semapv:UnspecifiedMatching +OMIM:620491 MTURN skos:exactMatch ncbigene:222166 semapv:UnspecifiedMatching +OMIM:620492 MED31 skos:exactMatch hgnc.symbol:24260 semapv:UnspecifiedMatching +OMIM:620492 MED31 skos:exactMatch hgnc.symbol:MED31 semapv:UnspecifiedMatching +OMIM:620492 MED31 skos:exactMatch ncbigene:51003 semapv:UnspecifiedMatching +OMIM:620493 SAMD7 skos:exactMatch hgnc.symbol:25394 semapv:UnspecifiedMatching +OMIM:620493 SAMD7 skos:exactMatch hgnc.symbol:SAMD7 semapv:UnspecifiedMatching +OMIM:620493 SAMD7 skos:exactMatch ncbigene:344658 semapv:UnspecifiedMatching +OMIM:620494 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies skos:exactMatch MONDO:0957588 semapv:UnspecifiedMatching +OMIM:620495 C12ORF40 skos:exactMatch hgnc.symbol:REDIC1 semapv:UnspecifiedMatching +OMIM:620495 C12ORF40 skos:exactMatch ncbigene:283461 semapv:UnspecifiedMatching +OMIM:620496 BBOF1 skos:exactMatch hgnc.symbol:19855 semapv:UnspecifiedMatching +OMIM:620496 BBOF1 skos:exactMatch hgnc.symbol:BBOF1 semapv:UnspecifiedMatching +OMIM:620496 BBOF1 skos:exactMatch ncbigene:80127 semapv:UnspecifiedMatching +OMIM:620497 LRRC49 skos:exactMatch hgnc.symbol:25965 semapv:UnspecifiedMatching +OMIM:620497 LRRC49 skos:exactMatch hgnc.symbol:LRRC49 semapv:UnspecifiedMatching +OMIM:620497 LRRC49 skos:exactMatch ncbigene:54839 semapv:UnspecifiedMatching +OMIM:620498 TCERG1L skos:exactMatch hgnc.symbol:23533 semapv:UnspecifiedMatching +OMIM:620498 TCERG1L skos:exactMatch hgnc.symbol:TCERG1L semapv:UnspecifiedMatching +OMIM:620498 TCERG1L skos:exactMatch ncbigene:256536 semapv:UnspecifiedMatching +OMIM:620499 spermatogenic failure 86 skos:exactMatch MONDO:0957593 semapv:UnspecifiedMatching +OMIM:620500 spermatogenic failure 87 skos:exactMatch MONDO:0957594 semapv:UnspecifiedMatching +OMIM:620501 ziegler-huang syndrome skos:exactMatch MONDO:0957595 semapv:UnspecifiedMatching +OMIM:620502 neurodevelopmental disorder with language delay and variable cognitive abnormalities skos:exactMatch MONDO:0957779 semapv:UnspecifiedMatching +OMIM:620503 FIGNL2 skos:exactMatch hgnc.symbol:13287 semapv:UnspecifiedMatching +OMIM:620503 FIGNL2 skos:exactMatch hgnc.symbol:FIGNL2 semapv:UnspecifiedMatching +OMIM:620503 FIGNL2 skos:exactMatch ncbigene:401720 semapv:UnspecifiedMatching +OMIM:620504 developmental and epileptic encephalopathy 111 skos:exactMatch MONDO:0957780 semapv:UnspecifiedMatching +OMIM:620505 IFT22 skos:exactMatch hgnc.symbol:21895 semapv:UnspecifiedMatching +OMIM:620505 IFT22 skos:exactMatch hgnc.symbol:IFT22 semapv:UnspecifiedMatching +OMIM:620505 IFT22 skos:exactMatch ncbigene:64792 semapv:UnspecifiedMatching +OMIM:620506 IFT46 skos:exactMatch hgnc.symbol:26146 semapv:UnspecifiedMatching +OMIM:620506 IFT46 skos:exactMatch hgnc.symbol:IFT46 semapv:UnspecifiedMatching +OMIM:620506 IFT46 skos:exactMatch ncbigene:56912 semapv:UnspecifiedMatching +OMIM:620507 ichthyosis with erythrokeratoderma skos:exactMatch MONDO:0957783 semapv:UnspecifiedMatching +OMIM:620508 CNOT10 skos:exactMatch hgnc.symbol:23817 semapv:UnspecifiedMatching +OMIM:620508 CNOT10 skos:exactMatch hgnc.symbol:CNOT10 semapv:UnspecifiedMatching +OMIM:620508 CNOT10 skos:exactMatch ncbigene:25904 semapv:UnspecifiedMatching +OMIM:620509 CNOT11 skos:exactMatch hgnc.symbol:25217 semapv:UnspecifiedMatching +OMIM:620509 CNOT11 skos:exactMatch hgnc.symbol:CNOT11 semapv:UnspecifiedMatching +OMIM:620509 CNOT11 skos:exactMatch ncbigene:55571 semapv:UnspecifiedMatching +OMIM:620510 xerosis and growth failure with immune and pulmonary dysfunction syndrome skos:exactMatch MONDO:0957786 semapv:UnspecifiedMatching +OMIM:620511 fliedner-zweier syndrome skos:exactMatch MONDO:0957787 semapv:UnspecifiedMatching +OMIM:620512 spastic paraplegia 18a, autosomal dominant skos:exactMatch MONDO:0957788 semapv:UnspecifiedMatching +OMIM:620513 UNC119B skos:exactMatch hgnc.symbol:16488 semapv:UnspecifiedMatching +OMIM:620513 UNC119B skos:exactMatch hgnc.symbol:UNC119B semapv:UnspecifiedMatching +OMIM:620513 UNC119B skos:exactMatch ncbigene:84747 semapv:UnspecifiedMatching +OMIM:620514 immune dysregulation, autoimmunity, and autoinflammation skos:exactMatch MONDO:0957790 semapv:UnspecifiedMatching +OMIM:620515 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction skos:exactMatch MONDO:0957791 semapv:UnspecifiedMatching +OMIM:620516 SAMD3 skos:exactMatch hgnc.symbol:21574 semapv:UnspecifiedMatching +OMIM:620516 SAMD3 skos:exactMatch hgnc.symbol:SAMD3 semapv:UnspecifiedMatching +OMIM:620516 SAMD3 skos:exactMatch ncbigene:154075 semapv:UnspecifiedMatching +OMIM:620517 SAMD5 skos:exactMatch hgnc.symbol:21180 semapv:UnspecifiedMatching +OMIM:620517 SAMD5 skos:exactMatch hgnc.symbol:SAMD5 semapv:UnspecifiedMatching +OMIM:620517 SAMD5 skos:exactMatch ncbigene:389432 semapv:UnspecifiedMatching +OMIM:620518 KLHDC4 skos:exactMatch hgnc.symbol:25272 semapv:UnspecifiedMatching +OMIM:620518 KLHDC4 skos:exactMatch hgnc.symbol:KLHDC4 semapv:UnspecifiedMatching +OMIM:620518 KLHDC4 skos:exactMatch ncbigene:54758 semapv:UnspecifiedMatching +OMIM:620519 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities skos:exactMatch MONDO:0957795 semapv:UnspecifiedMatching +OMIM:620520 CALML4 skos:exactMatch hgnc.symbol:18445 semapv:UnspecifiedMatching +OMIM:620520 CALML4 skos:exactMatch hgnc.symbol:CALML4 semapv:UnspecifiedMatching +OMIM:620520 CALML4 skos:exactMatch ncbigene:91860 semapv:UnspecifiedMatching +OMIM:620521 KLHDC7B skos:exactMatch hgnc.symbol:25145 semapv:UnspecifiedMatching +OMIM:620521 KLHDC7B skos:exactMatch hgnc.symbol:KLHDC7B semapv:UnspecifiedMatching +OMIM:620521 KLHDC7B skos:exactMatch ncbigene:113730 semapv:UnspecifiedMatching +OMIM:620522 OCM2 skos:exactMatch hgnc.symbol:34396 semapv:UnspecifiedMatching +OMIM:620522 OCM2 skos:exactMatch hgnc.symbol:OCM2 semapv:UnspecifiedMatching +OMIM:620522 OCM2 skos:exactMatch ncbigene:4951 semapv:UnspecifiedMatching +OMIM:620523 RNF122 skos:exactMatch hgnc.symbol:21147 semapv:UnspecifiedMatching +OMIM:620523 RNF122 skos:exactMatch hgnc.symbol:RNF122 semapv:UnspecifiedMatching +OMIM:620523 RNF122 skos:exactMatch ncbigene:79845 semapv:UnspecifiedMatching +OMIM:620524 DCAF16 skos:exactMatch hgnc.symbol:25987 semapv:UnspecifiedMatching +OMIM:620524 DCAF16 skos:exactMatch hgnc.symbol:DCAF16 semapv:UnspecifiedMatching +OMIM:620524 DCAF16 skos:exactMatch ncbigene:54876 semapv:UnspecifiedMatching +OMIM:620525 LINC02228 skos:exactMatch hgnc.symbol:53097 semapv:UnspecifiedMatching +OMIM:620525 LINC02228 skos:exactMatch hgnc.symbol:LINC02228 semapv:UnspecifiedMatching +OMIM:620525 LINC02228 skos:exactMatch ncbigene:105374694 semapv:UnspecifiedMatching +OMIM:620526 SGTB skos:exactMatch hgnc.symbol:23567 semapv:UnspecifiedMatching +OMIM:620526 SGTB skos:exactMatch hgnc.symbol:SGTB semapv:UnspecifiedMatching +OMIM:620526 SGTB skos:exactMatch ncbigene:54557 semapv:UnspecifiedMatching +OMIM:620527 TRIM58 skos:exactMatch hgnc.symbol:24150 semapv:UnspecifiedMatching +OMIM:620527 TRIM58 skos:exactMatch hgnc.symbol:TRIM58 semapv:UnspecifiedMatching +OMIM:620527 TRIM58 skos:exactMatch ncbigene:25893 semapv:UnspecifiedMatching +OMIM:620528 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch MONDO:0957875 semapv:UnspecifiedMatching +OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:21070 semapv:UnspecifiedMatching +OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:RNF121 semapv:UnspecifiedMatching +OMIM:620529 RNF121 skos:exactMatch ncbigene:55298 semapv:UnspecifiedMatching +OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:19225 semapv:UnspecifiedMatching +OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:C4orf3 semapv:UnspecifiedMatching +OMIM:620530 C4ORF3 skos:exactMatch ncbigene:401152 semapv:UnspecifiedMatching +OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:40032 semapv:UnspecifiedMatching +OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:SMIM6 semapv:UnspecifiedMatching +OMIM:620531 SMIM6 skos:exactMatch ncbigene:100130933 semapv:UnspecifiedMatching +OMIM:620532 hyper-ige syndrome 6, autosomal dominant, with recurrent infections skos:exactMatch MONDO:0957807 semapv:UnspecifiedMatching +OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:19843 semapv:UnspecifiedMatching +OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:LINC00520 semapv:UnspecifiedMatching +OMIM:620533 LINC00520 skos:exactMatch ncbigene:645687 semapv:UnspecifiedMatching +OMIM:620534 neutropenia, severe congenital, 10, autosomal recessive skos:exactMatch MONDO:0957809 semapv:UnspecifiedMatching +OMIM:620535 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch MONDO:0957810 semapv:UnspecifiedMatching +OMIM:620536 alport syndrome 3b, autosomal recessive skos:exactMatch MONDO:0957811 semapv:UnspecifiedMatching +OMIM:620537 developmental and epileptic encephalopathy 112 skos:exactMatch MONDO:0957812 semapv:UnspecifiedMatching +OMIM:620538 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia skos:exactMatch MONDO:0957813 semapv:UnspecifiedMatching +OMIM:620539 ZSWIM4 skos:exactMatch hgnc.symbol:25704 semapv:UnspecifiedMatching +OMIM:620539 ZSWIM4 skos:exactMatch hgnc.symbol:ZSWIM4 semapv:UnspecifiedMatching +OMIM:620539 ZSWIM4 skos:exactMatch ncbigene:65249 semapv:UnspecifiedMatching +OMIM:620540 developmental delay with or without epilepsy skos:exactMatch MONDO:0957815 semapv:UnspecifiedMatching +OMIM:620541 PANO1 skos:exactMatch hgnc.symbol:51237 semapv:UnspecifiedMatching +OMIM:620541 PANO1 skos:exactMatch hgnc.symbol:PANO1 semapv:UnspecifiedMatching +OMIM:620541 PANO1 skos:exactMatch ncbigene:101927423 semapv:UnspecifiedMatching +OMIM:620542 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch MONDO:0957876 semapv:UnspecifiedMatching +OMIM:620543 ZUP1 skos:exactMatch hgnc.symbol:21224 semapv:UnspecifiedMatching +OMIM:620543 ZUP1 skos:exactMatch hgnc.symbol:ZUP1 semapv:UnspecifiedMatching +OMIM:620543 ZUP1 skos:exactMatch ncbigene:221302 semapv:UnspecifiedMatching +OMIM:620544 PPP1R13BDT skos:exactMatch hgnc.symbol:27069 semapv:UnspecifiedMatching +OMIM:620544 PPP1R13BDT skos:exactMatch hgnc.symbol:PPP1R13B-DT semapv:UnspecifiedMatching +OMIM:620544 PPP1R13BDT skos:exactMatch ncbigene:145216 semapv:UnspecifiedMatching +OMIM:620545 arthrogryposis, distal, iia 12 skos:exactMatch MONDO:0957819 semapv:UnspecifiedMatching +OMIM:620546 congenital disorder of glycosylation, iia iibb skos:exactMatch MONDO:0957820 semapv:UnspecifiedMatching +OMIM:620547 spermatogenic failure 88 skos:exactMatch MONDO:0957821 semapv:UnspecifiedMatching +OMIM:620548 premature ovarian failure 22 skos:exactMatch MONDO:0957822 semapv:UnspecifiedMatching +OMIM:620549 FBXO48 skos:exactMatch hgnc.symbol:33857 semapv:UnspecifiedMatching +OMIM:620549 FBXO48 skos:exactMatch hgnc.symbol:FBXO48 semapv:UnspecifiedMatching +OMIM:620549 FBXO48 skos:exactMatch ncbigene:554251 semapv:UnspecifiedMatching +OMIM:620550 optic atrophy 14 skos:exactMatch MONDO:0957824 semapv:UnspecifiedMatching +OMIM:620551 deafness, autosomal recessive 121 skos:exactMatch MONDO:0957825 semapv:UnspecifiedMatching +OMIM:620552 CUEDC1 skos:exactMatch hgnc.symbol:31350 semapv:UnspecifiedMatching +OMIM:620552 CUEDC1 skos:exactMatch hgnc.symbol:CUEDC1 semapv:UnspecifiedMatching +OMIM:620552 CUEDC1 skos:exactMatch ncbigene:404093 semapv:UnspecifiedMatching +OMIM:620553 CCDC93 skos:exactMatch hgnc.symbol:25611 semapv:UnspecifiedMatching +OMIM:620553 CCDC93 skos:exactMatch hgnc.symbol:CCDC93 semapv:UnspecifiedMatching +OMIM:620553 CCDC93 skos:exactMatch ncbigene:54520 semapv:UnspecifiedMatching +OMIM:620554 ZNF432 skos:exactMatch hgnc.symbol:20810 semapv:UnspecifiedMatching +OMIM:620554 ZNF432 skos:exactMatch hgnc.symbol:ZNF432 semapv:UnspecifiedMatching +OMIM:620554 ZNF432 skos:exactMatch ncbigene:9668 semapv:UnspecifiedMatching +OMIM:620555 SNHG20 skos:exactMatch hgnc.symbol:33099 semapv:UnspecifiedMatching +OMIM:620555 SNHG20 skos:exactMatch hgnc.symbol:SNHG20 semapv:UnspecifiedMatching +OMIM:620555 SNHG20 skos:exactMatch ncbigene:654434 semapv:UnspecifiedMatching +OMIM:620556 RNF133 skos:exactMatch hgnc.symbol:21154 semapv:UnspecifiedMatching +OMIM:620556 RNF133 skos:exactMatch hgnc.symbol:RNF133 semapv:UnspecifiedMatching +OMIM:620556 RNF133 skos:exactMatch ncbigene:168433 semapv:UnspecifiedMatching +OMIM:620557 IQUB skos:exactMatch hgnc.symbol:21995 semapv:UnspecifiedMatching +OMIM:620557 IQUB skos:exactMatch hgnc.symbol:IQUB semapv:UnspecifiedMatching +OMIM:620557 IQUB skos:exactMatch ncbigene:154865 semapv:UnspecifiedMatching +OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia skos:exactMatch MONDO:0957832 semapv:UnspecifiedMatching +OMIM:620559 CCNYL1 skos:exactMatch hgnc.symbol:26868 semapv:UnspecifiedMatching +OMIM:620559 CCNYL1 skos:exactMatch hgnc.symbol:CCNYL1 semapv:UnspecifiedMatching +OMIM:620559 CCNYL1 skos:exactMatch ncbigene:151195 semapv:UnspecifiedMatching +OMIM:620560 CEBPA-DT skos:exactMatch hgnc.symbol:25710 semapv:UnspecifiedMatching +OMIM:620560 CEBPA-DT skos:exactMatch hgnc.symbol:CEBPA-DT semapv:UnspecifiedMatching +OMIM:620560 CEBPA-DT skos:exactMatch ncbigene:80054 semapv:UnspecifiedMatching +OMIM:620561 DENND6A skos:exactMatch hgnc.symbol:26635 semapv:UnspecifiedMatching +OMIM:620561 DENND6A skos:exactMatch hgnc.symbol:DENND6A semapv:UnspecifiedMatching +OMIM:620561 DENND6A skos:exactMatch ncbigene:201627 semapv:UnspecifiedMatching +OMIM:620562 DENND6B skos:exactMatch hgnc.symbol:32690 semapv:UnspecifiedMatching +OMIM:620562 DENND6B skos:exactMatch hgnc.symbol:DENND6B semapv:UnspecifiedMatching +OMIM:620562 DENND6B skos:exactMatch ncbigene:414918 semapv:UnspecifiedMatching +OMIM:620563 USP50 skos:exactMatch hgnc.symbol:20079 semapv:UnspecifiedMatching +OMIM:620563 USP50 skos:exactMatch hgnc.symbol:USP50 semapv:UnspecifiedMatching +OMIM:620563 USP50 skos:exactMatch ncbigene:373509 semapv:UnspecifiedMatching +OMIM:620564 AMN1 skos:exactMatch hgnc.symbol:27281 semapv:UnspecifiedMatching +OMIM:620564 AMN1 skos:exactMatch hgnc.symbol:AMN1 semapv:UnspecifiedMatching +OMIM:620564 AMN1 skos:exactMatch ncbigene:196394 semapv:UnspecifiedMatching +OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation skos:exactMatch MONDO:0957920 semapv:UnspecifiedMatching +OMIM:620566 CLDN22 skos:exactMatch hgnc.symbol:2044 semapv:UnspecifiedMatching +OMIM:620566 CLDN22 skos:exactMatch hgnc.symbol:CLDN22 semapv:UnspecifiedMatching +OMIM:620566 CLDN22 skos:exactMatch ncbigene:53842 semapv:UnspecifiedMatching +OMIM:620567 ZNF507 skos:exactMatch hgnc.symbol:23783 semapv:UnspecifiedMatching +OMIM:620567 ZNF507 skos:exactMatch hgnc.symbol:ZNF507 semapv:UnspecifiedMatching +OMIM:620567 ZNF507 skos:exactMatch ncbigene:22847 semapv:UnspecifiedMatching +OMIM:620568 cornelia lange lange syndrome 6 skos:exactMatch MONDO:0957921 semapv:UnspecifiedMatching +OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 skos:exactMatch MONDO:0958197 semapv:UnspecifiedMatching +OMIM:620570 ciliary dyskinesia, primary, 52 skos:exactMatch MONDO:0957922 semapv:UnspecifiedMatching +OMIM:620571 MIR512-1 skos:exactMatch hgnc.symbol:32090 semapv:UnspecifiedMatching +OMIM:620571 MIR512-1 skos:exactMatch hgnc.symbol:MIR512-1 semapv:UnspecifiedMatching +OMIM:620571 MIR512-1 skos:exactMatch ncbigene:574458 semapv:UnspecifiedMatching +OMIM:620572 MIR512-2 skos:exactMatch hgnc.symbol:32091 semapv:UnspecifiedMatching +OMIM:620572 MIR512-2 skos:exactMatch hgnc.symbol:MIR512-2 semapv:UnspecifiedMatching +OMIM:620572 MIR512-2 skos:exactMatch ncbigene:574459 semapv:UnspecifiedMatching +OMIM:620573 MIR520E skos:exactMatch hgnc.symbol:32093 semapv:UnspecifiedMatching +OMIM:620573 MIR520E skos:exactMatch hgnc.symbol:MIR520E semapv:UnspecifiedMatching +OMIM:620573 MIR520E skos:exactMatch ncbigene:574461 semapv:UnspecifiedMatching +OMIM:620574 MIR515-1 skos:exactMatch hgnc.symbol:32094 semapv:UnspecifiedMatching +OMIM:620574 MIR515-1 skos:exactMatch hgnc.symbol:MIR515-1 semapv:UnspecifiedMatching +OMIM:620574 MIR515-1 skos:exactMatch ncbigene:574462 semapv:UnspecifiedMatching +OMIM:620575 MIR519E skos:exactMatch hgnc.symbol:32095 semapv:UnspecifiedMatching +OMIM:620575 MIR519E skos:exactMatch hgnc.symbol:MIR519E semapv:UnspecifiedMatching +OMIM:620575 MIR519E skos:exactMatch ncbigene:574463 semapv:UnspecifiedMatching +OMIM:620576 otosclerosis 11 skos:exactMatch MONDO:0957928 semapv:UnspecifiedMatching +OMIM:620577 FADS6 skos:exactMatch hgnc.symbol:30459 semapv:UnspecifiedMatching +OMIM:620577 FADS6 skos:exactMatch hgnc.symbol:FADS6 semapv:UnspecifiedMatching +OMIM:620577 FADS6 skos:exactMatch ncbigene:283985 semapv:UnspecifiedMatching +OMIM:620578 UQCC4 skos:exactMatch hgnc.symbol:UQCC4 semapv:UnspecifiedMatching +OMIM:620578 UQCC4 skos:exactMatch ncbigene:283951 semapv:UnspecifiedMatching +OMIM:620579 CCDC3 skos:exactMatch hgnc.symbol:23813 semapv:UnspecifiedMatching +OMIM:620579 CCDC3 skos:exactMatch hgnc.symbol:CCDC3 semapv:UnspecifiedMatching +OMIM:620579 CCDC3 skos:exactMatch ncbigene:83643 semapv:UnspecifiedMatching +OMIM:620580 DQX1 skos:exactMatch hgnc.symbol:20410 semapv:UnspecifiedMatching +OMIM:620580 DQX1 skos:exactMatch hgnc.symbol:DQX1 semapv:UnspecifiedMatching +OMIM:620580 DQX1 skos:exactMatch ncbigene:165545 semapv:UnspecifiedMatching +OMIM:620581 OXNAD1 skos:exactMatch hgnc.symbol:25128 semapv:UnspecifiedMatching +OMIM:620581 OXNAD1 skos:exactMatch hgnc.symbol:OXNAD1 semapv:UnspecifiedMatching +OMIM:620581 OXNAD1 skos:exactMatch ncbigene:92106 semapv:UnspecifiedMatching +OMIM:620582 C1ORF210 skos:exactMatch hgnc.symbol:28755 semapv:UnspecifiedMatching +OMIM:620582 C1ORF210 skos:exactMatch hgnc.symbol:C1orf210 semapv:UnspecifiedMatching +OMIM:620582 C1ORF210 skos:exactMatch ncbigene:149466 semapv:UnspecifiedMatching +OMIM:620583 optic atrophy 15 skos:exactMatch MONDO:0957935 semapv:UnspecifiedMatching +OMIM:620584 MIR498 skos:exactMatch hgnc.symbol:32092 semapv:UnspecifiedMatching +OMIM:620584 MIR498 skos:exactMatch hgnc.symbol:MIR498 semapv:UnspecifiedMatching +OMIM:620584 MIR498 skos:exactMatch ncbigene:574460 semapv:UnspecifiedMatching +OMIM:620585 MIR520F skos:exactMatch hgnc.symbol:32096 semapv:UnspecifiedMatching +OMIM:620585 MIR520F skos:exactMatch hgnc.symbol:MIR520F semapv:UnspecifiedMatching +OMIM:620585 MIR520F skos:exactMatch ncbigene:574464 semapv:UnspecifiedMatching +OMIM:620586 MIR515-2 skos:exactMatch hgnc.symbol:32097 semapv:UnspecifiedMatching +OMIM:620586 MIR515-2 skos:exactMatch hgnc.symbol:MIR515-2 semapv:UnspecifiedMatching +OMIM:620586 MIR515-2 skos:exactMatch ncbigene:574465 semapv:UnspecifiedMatching +OMIM:620587 MIR519C skos:exactMatch hgnc.symbol:32098 semapv:UnspecifiedMatching +OMIM:620587 MIR519C skos:exactMatch hgnc.symbol:MIR519C semapv:UnspecifiedMatching +OMIM:620587 MIR519C skos:exactMatch ncbigene:574466 semapv:UnspecifiedMatching +OMIM:620588 MIR520A skos:exactMatch hgnc.symbol:32099 semapv:UnspecifiedMatching +OMIM:620588 MIR520A skos:exactMatch hgnc.symbol:MIR520A semapv:UnspecifiedMatching +OMIM:620588 MIR520A skos:exactMatch ncbigene:574467 semapv:UnspecifiedMatching +OMIM:620589 MIR526B skos:exactMatch hgnc.symbol:32100 semapv:UnspecifiedMatching +OMIM:620589 MIR526B skos:exactMatch hgnc.symbol:MIR526B semapv:UnspecifiedMatching +OMIM:620589 MIR526B skos:exactMatch ncbigene:574468 semapv:UnspecifiedMatching +OMIM:620590 RSAD1 skos:exactMatch hgnc.symbol:25634 semapv:UnspecifiedMatching +OMIM:620590 RSAD1 skos:exactMatch hgnc.symbol:RSAD1 semapv:UnspecifiedMatching +OMIM:620590 RSAD1 skos:exactMatch ncbigene:55316 semapv:UnspecifiedMatching +OMIM:620591 MIR519B skos:exactMatch hgnc.symbol:32101 semapv:UnspecifiedMatching +OMIM:620591 MIR519B skos:exactMatch hgnc.symbol:MIR519B semapv:UnspecifiedMatching +OMIM:620591 MIR519B skos:exactMatch ncbigene:574469 semapv:UnspecifiedMatching +OMIM:620592 MIR525 skos:exactMatch hgnc.symbol:32102 semapv:UnspecifiedMatching +OMIM:620592 MIR525 skos:exactMatch hgnc.symbol:MIR525 semapv:UnspecifiedMatching +OMIM:620592 MIR525 skos:exactMatch ncbigene:574470 semapv:UnspecifiedMatching +OMIM:620593 MIR523 skos:exactMatch hgnc.symbol:32103 semapv:UnspecifiedMatching +OMIM:620593 MIR523 skos:exactMatch hgnc.symbol:MIR523 semapv:UnspecifiedMatching +OMIM:620593 MIR523 skos:exactMatch ncbigene:574471 semapv:UnspecifiedMatching +OMIM:620594 MIR518F skos:exactMatch hgnc.symbol:32104 semapv:UnspecifiedMatching +OMIM:620594 MIR518F skos:exactMatch hgnc.symbol:MIR518F semapv:UnspecifiedMatching +OMIM:620594 MIR518F skos:exactMatch ncbigene:574472 semapv:UnspecifiedMatching +OMIM:620595 MIR520B skos:exactMatch hgnc.symbol:32105 semapv:UnspecifiedMatching +OMIM:620595 MIR520B skos:exactMatch hgnc.symbol:MIR520B semapv:UnspecifiedMatching +OMIM:620595 MIR520B skos:exactMatch ncbigene:574473 semapv:UnspecifiedMatching +OMIM:620596 MIR518B skos:exactMatch hgnc.symbol:32106 semapv:UnspecifiedMatching +OMIM:620596 MIR518B skos:exactMatch hgnc.symbol:MIR518B semapv:UnspecifiedMatching +OMIM:620596 MIR518B skos:exactMatch ncbigene:574474 semapv:UnspecifiedMatching +OMIM:620597 MIR526A1 skos:exactMatch hgnc.symbol:32107 semapv:UnspecifiedMatching +OMIM:620597 MIR526A1 skos:exactMatch hgnc.symbol:MIR526A1 semapv:UnspecifiedMatching +OMIM:620597 MIR526A1 skos:exactMatch ncbigene:574475 semapv:UnspecifiedMatching +OMIM:620598 MIR518C skos:exactMatch hgnc.symbol:32109 semapv:UnspecifiedMatching +OMIM:620598 MIR518C skos:exactMatch hgnc.symbol:MIR518C semapv:UnspecifiedMatching +OMIM:620598 MIR518C skos:exactMatch ncbigene:574477 semapv:UnspecifiedMatching +OMIM:620599 MIR524 skos:exactMatch hgnc.symbol:32110 semapv:UnspecifiedMatching +OMIM:620599 MIR524 skos:exactMatch hgnc.symbol:MIR524 semapv:UnspecifiedMatching +OMIM:620599 MIR524 skos:exactMatch ncbigene:574478 semapv:UnspecifiedMatching +OMIM:620600 MIR517A skos:exactMatch hgnc.symbol:32111 semapv:UnspecifiedMatching +OMIM:620600 MIR517A skos:exactMatch hgnc.symbol:MIR517A semapv:UnspecifiedMatching +OMIM:620600 MIR517A skos:exactMatch ncbigene:574479 semapv:UnspecifiedMatching +OMIM:620601 garg-mishra progeroid syndrome skos:exactMatch MONDO:0957953 semapv:UnspecifiedMatching +OMIM:620602 lymphatic malformation 14 skos:exactMatch MONDO:0957954 semapv:UnspecifiedMatching +OMIM:620603 immunodeficiency 114, folate-responsive skos:exactMatch MONDO:0957955 semapv:UnspecifiedMatching +OMIM:620604 PTGR3 skos:exactMatch hgnc.symbol:28697 semapv:UnspecifiedMatching +OMIM:620604 PTGR3 skos:exactMatch hgnc.symbol:PTGR3 semapv:UnspecifiedMatching +OMIM:620604 PTGR3 skos:exactMatch ncbigene:284273 semapv:UnspecifiedMatching +OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:33480 semapv:UnspecifiedMatching +OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:CYP27C1 semapv:UnspecifiedMatching +OMIM:620605 CYP27C1 skos:exactMatch ncbigene:339761 semapv:UnspecifiedMatching +OMIM:620606 spastic paraplegia 72b, autosomal recessive skos:exactMatch MONDO:0957958 semapv:UnspecifiedMatching +OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:30247 semapv:UnspecifiedMatching +OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:TEX264 semapv:UnspecifiedMatching +OMIM:620608 TEX264 skos:exactMatch ncbigene:51368 semapv:UnspecifiedMatching +OMIM:620609 long-olsen-distelmaier syndrome skos:exactMatch MONDO:0957960 semapv:UnspecifiedMatching +OMIM:620610 oocyte/zygote/embryo maturation arrest 21 skos:exactMatch MONDO:0957961 semapv:UnspecifiedMatching +OMIM:620611 MIR521-2 skos:exactMatch hgnc.symbol:32113 semapv:UnspecifiedMatching +OMIM:620611 MIR521-2 skos:exactMatch hgnc.symbol:MIR521-2 semapv:UnspecifiedMatching +OMIM:620611 MIR521-2 skos:exactMatch ncbigene:574481 semapv:UnspecifiedMatching +OMIM:620612 MIR520D skos:exactMatch hgnc.symbol:32114 semapv:UnspecifiedMatching +OMIM:620612 MIR520D skos:exactMatch hgnc.symbol:MIR520D semapv:UnspecifiedMatching +OMIM:620612 MIR520D skos:exactMatch ncbigene:574482 semapv:UnspecifiedMatching +OMIM:620613 MIR517B skos:exactMatch hgnc.symbol:32115 semapv:UnspecifiedMatching +OMIM:620613 MIR517B skos:exactMatch hgnc.symbol:MIR517B semapv:UnspecifiedMatching +OMIM:620613 MIR517B skos:exactMatch ncbigene:574483 semapv:UnspecifiedMatching +OMIM:620614 MIR516B2 skos:exactMatch hgnc.symbol:32117 semapv:UnspecifiedMatching +OMIM:620614 MIR516B2 skos:exactMatch hgnc.symbol:MIR516B2 semapv:UnspecifiedMatching +OMIM:620614 MIR516B2 skos:exactMatch ncbigene:574485 semapv:UnspecifiedMatching +OMIM:620615 MIR526A2 skos:exactMatch hgnc.symbol:32118 semapv:UnspecifiedMatching +OMIM:620615 MIR526A2 skos:exactMatch hgnc.symbol:MIR526A2 semapv:UnspecifiedMatching +OMIM:620615 MIR526A2 skos:exactMatch ncbigene:574486 semapv:UnspecifiedMatching +OMIM:620616 MIR518E skos:exactMatch hgnc.symbol:32119 semapv:UnspecifiedMatching +OMIM:620616 MIR518E skos:exactMatch hgnc.symbol:MIR518E semapv:UnspecifiedMatching +OMIM:620616 MIR518E skos:exactMatch ncbigene:574487 semapv:UnspecifiedMatching +OMIM:620617 MIR518A1 skos:exactMatch hgnc.symbol:32120 semapv:UnspecifiedMatching +OMIM:620617 MIR518A1 skos:exactMatch hgnc.symbol:MIR518A1 semapv:UnspecifiedMatching +OMIM:620617 MIR518A1 skos:exactMatch ncbigene:574488 semapv:UnspecifiedMatching +OMIM:620618 MIR518D skos:exactMatch hgnc.symbol:32121 semapv:UnspecifiedMatching +OMIM:620618 MIR518D skos:exactMatch hgnc.symbol:MIR518D semapv:UnspecifiedMatching +OMIM:620618 MIR518D skos:exactMatch ncbigene:574489 semapv:UnspecifiedMatching +OMIM:620619 MIR516B1 skos:exactMatch hgnc.symbol:32122 semapv:UnspecifiedMatching +OMIM:620619 MIR516B1 skos:exactMatch hgnc.symbol:MIR516B1 semapv:UnspecifiedMatching +OMIM:620619 MIR516B1 skos:exactMatch ncbigene:574490 semapv:UnspecifiedMatching +OMIM:620620 MIR518A2 skos:exactMatch hgnc.symbol:32123 semapv:UnspecifiedMatching +OMIM:620620 MIR518A2 skos:exactMatch hgnc.symbol:MIR518A2 semapv:UnspecifiedMatching +OMIM:620620 MIR518A2 skos:exactMatch ncbigene:574491 semapv:UnspecifiedMatching +OMIM:620621 MIR517C skos:exactMatch hgnc.symbol:32124 semapv:UnspecifiedMatching +OMIM:620621 MIR517C skos:exactMatch hgnc.symbol:MIR517C semapv:UnspecifiedMatching +OMIM:620621 MIR517C skos:exactMatch ncbigene:574492 semapv:UnspecifiedMatching +OMIM:620622 MIR521-1 skos:exactMatch hgnc.symbol:32126 semapv:UnspecifiedMatching +OMIM:620622 MIR521-1 skos:exactMatch hgnc.symbol:MIR521-1 semapv:UnspecifiedMatching +OMIM:620622 MIR521-1 skos:exactMatch ncbigene:574494 semapv:UnspecifiedMatching +OMIM:620623 MIR522 skos:exactMatch hgnc.symbol:32127 semapv:UnspecifiedMatching +OMIM:620623 MIR522 skos:exactMatch hgnc.symbol:MIR522 semapv:UnspecifiedMatching +OMIM:620623 MIR522 skos:exactMatch ncbigene:574495 semapv:UnspecifiedMatching +OMIM:620624 MIR519A1 skos:exactMatch hgnc.symbol:32128 semapv:UnspecifiedMatching +OMIM:620624 MIR519A1 skos:exactMatch hgnc.symbol:MIR519A1 semapv:UnspecifiedMatching +OMIM:620624 MIR519A1 skos:exactMatch ncbigene:574496 semapv:UnspecifiedMatching +OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:32129 semapv:UnspecifiedMatching +OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:MIR527 semapv:UnspecifiedMatching +OMIM:620625 MIR527 skos:exactMatch ncbigene:574497 semapv:UnspecifiedMatching +OMIM:620626 MIR516A1 skos:exactMatch hgnc.symbol:32130 semapv:UnspecifiedMatching +OMIM:620626 MIR516A1 skos:exactMatch hgnc.symbol:MIR516A1 semapv:UnspecifiedMatching +OMIM:620626 MIR516A1 skos:exactMatch ncbigene:574498 semapv:UnspecifiedMatching +OMIM:620627 MIR516A2 skos:exactMatch hgnc.symbol:32131 semapv:UnspecifiedMatching +OMIM:620627 MIR516A2 skos:exactMatch hgnc.symbol:MIR516A2 semapv:UnspecifiedMatching +OMIM:620627 MIR516A2 skos:exactMatch ncbigene:574499 semapv:UnspecifiedMatching +OMIM:620628 MIR519A2 skos:exactMatch hgnc.symbol:32132 semapv:UnspecifiedMatching +OMIM:620628 MIR519A2 skos:exactMatch hgnc.symbol:MIR519A2 semapv:UnspecifiedMatching +OMIM:620628 MIR519A2 skos:exactMatch ncbigene:574500 semapv:UnspecifiedMatching +OMIM:620629 optic atrophy 16 skos:exactMatch MONDO:0957978 semapv:UnspecifiedMatching +OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:29577 semapv:UnspecifiedMatching +OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:TMEM170A semapv:UnspecifiedMatching +OMIM:620630 TMEM170A skos:exactMatch ncbigene:124491 semapv:UnspecifiedMatching +OMIM:620631 EMC7 skos:exactMatch hgnc.symbol:24301 semapv:UnspecifiedMatching +OMIM:620631 EMC7 skos:exactMatch hgnc.symbol:EMC7 semapv:UnspecifiedMatching +OMIM:620631 EMC7 skos:exactMatch ncbigene:56851 semapv:UnspecifiedMatching +OMIM:620632 immunodeficiency 115 with autoinflammation skos:exactMatch MONDO:0957981 semapv:UnspecifiedMatching +OMIM:620633 GOLT1A skos:exactMatch hgnc.symbol:24766 semapv:UnspecifiedMatching +OMIM:620633 GOLT1A skos:exactMatch hgnc.symbol:GOLT1A semapv:UnspecifiedMatching +OMIM:620633 GOLT1A skos:exactMatch ncbigene:127845 semapv:UnspecifiedMatching +OMIM:620634 IRGC skos:exactMatch hgnc.symbol:28835 semapv:UnspecifiedMatching +OMIM:620634 IRGC skos:exactMatch hgnc.symbol:IRGC semapv:UnspecifiedMatching +OMIM:620634 IRGC skos:exactMatch ncbigene:56269 semapv:UnspecifiedMatching +OMIM:620635 cardiomyopathy, dilated, 2j skos:exactMatch MONDO:0957984 semapv:UnspecifiedMatching +OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline skos:exactMatch MONDO:0957985 semapv:UnspecifiedMatching +OMIM:620637 CPED1 skos:exactMatch hgnc.symbol:26159 semapv:UnspecifiedMatching +OMIM:620637 CPED1 skos:exactMatch hgnc.symbol:CPED1 semapv:UnspecifiedMatching +OMIM:620637 CPED1 skos:exactMatch ncbigene:79974 semapv:UnspecifiedMatching +OMIM:620638 KCTD4 skos:exactMatch hgnc.symbol:23227 semapv:UnspecifiedMatching +OMIM:620638 KCTD4 skos:exactMatch hgnc.symbol:KCTD4 semapv:UnspecifiedMatching +OMIM:620638 KCTD4 skos:exactMatch ncbigene:386618 semapv:UnspecifiedMatching +OMIM:620639 osteogenesis imperfecta, iia 23 skos:exactMatch MONDO:0957988 semapv:UnspecifiedMatching +OMIM:620640 RNF145 skos:exactMatch hgnc.symbol:20853 semapv:UnspecifiedMatching +OMIM:620640 RNF145 skos:exactMatch hgnc.symbol:RNF145 semapv:UnspecifiedMatching +OMIM:620640 RNF145 skos:exactMatch ncbigene:153830 semapv:UnspecifiedMatching +OMIM:620641 tan-almurshedi syndrome skos:exactMatch MONDO:0957990 semapv:UnspecifiedMatching +OMIM:620642 ciliary dyskinesia, primary, 53 skos:exactMatch MONDO:0957991 semapv:UnspecifiedMatching +OMIM:620643 MIR1323 skos:exactMatch hgnc.symbol:35251 semapv:UnspecifiedMatching +OMIM:620643 MIR1323 skos:exactMatch hgnc.symbol:MIR1323 semapv:UnspecifiedMatching +OMIM:620643 MIR1323 skos:exactMatch ncbigene:100302255 semapv:UnspecifiedMatching +OMIM:620644 MIR1283-1 skos:exactMatch hgnc.symbol:35255 semapv:UnspecifiedMatching +OMIM:620644 MIR1283-1 skos:exactMatch hgnc.symbol:MIR1283-1 semapv:UnspecifiedMatching +OMIM:620644 MIR1283-1 skos:exactMatch ncbigene:100302265 semapv:UnspecifiedMatching +OMIM:620645 MIR283-2 skos:exactMatch hgnc.symbol:35361 semapv:UnspecifiedMatching +OMIM:620645 MIR283-2 skos:exactMatch hgnc.symbol:MIR1283-2 semapv:UnspecifiedMatching +OMIM:620645 MIR283-2 skos:exactMatch ncbigene:100302205 semapv:UnspecifiedMatching +OMIM:620646 combined oxidative phosphorylation deficiency 59 skos:exactMatch MONDO:0957992 semapv:UnspecifiedMatching +OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 skos:exactMatch MONDO:0957993 semapv:UnspecifiedMatching +OMIM:620648 BTNL9 skos:exactMatch hgnc.symbol:24176 semapv:UnspecifiedMatching +OMIM:620648 BTNL9 skos:exactMatch hgnc.symbol:BTNL9 semapv:UnspecifiedMatching +OMIM:620648 BTNL9 skos:exactMatch ncbigene:153579 semapv:UnspecifiedMatching +OMIM:620649 PLA2G4E skos:exactMatch hgnc.symbol:24791 semapv:UnspecifiedMatching +OMIM:620649 PLA2G4E skos:exactMatch hgnc.symbol:PLA2G4E semapv:UnspecifiedMatching +OMIM:620649 PLA2G4E skos:exactMatch ncbigene:123745 semapv:UnspecifiedMatching +OMIM:620650 GLOD4 skos:exactMatch hgnc.symbol:14111 semapv:UnspecifiedMatching +OMIM:620650 GLOD4 skos:exactMatch hgnc.symbol:GLOD4 semapv:UnspecifiedMatching +OMIM:620650 GLOD4 skos:exactMatch ncbigene:51031 semapv:UnspecifiedMatching +OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome skos:exactMatch MONDO:0957997 semapv:UnspecifiedMatching +OMIM:620652 SH3BP5L skos:exactMatch hgnc.symbol:29360 semapv:UnspecifiedMatching +OMIM:620652 SH3BP5L skos:exactMatch hgnc.symbol:SH3BP5L semapv:UnspecifiedMatching +OMIM:620652 SH3BP5L skos:exactMatch ncbigene:80851 semapv:UnspecifiedMatching +OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly skos:exactMatch MONDO:0957999 semapv:UnspecifiedMatching +OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies skos:exactMatch MONDO:0958000 semapv:UnspecifiedMatching +OMIM:620655 alfadhel syndrome skos:exactMatch MONDO:0958001 semapv:UnspecifiedMatching +OMIM:620656 PSD2 skos:exactMatch hgnc.symbol:19092 semapv:UnspecifiedMatching +OMIM:620656 PSD2 skos:exactMatch hgnc.symbol:PSD2 semapv:UnspecifiedMatching +OMIM:620656 PSD2 skos:exactMatch ncbigene:84249 semapv:UnspecifiedMatching +OMIM:620660 CCZ1 skos:exactMatch hgnc.symbol:21691 semapv:UnspecifiedMatching +OMIM:620660 CCZ1 skos:exactMatch hgnc.symbol:CCZ1 semapv:UnspecifiedMatching +OMIM:620660 CCZ1 skos:exactMatch ncbigene:51622 semapv:UnspecifiedMatching +OMIM:620661 C10ORF88 skos:exactMatch hgnc.symbol:25822 semapv:UnspecifiedMatching +OMIM:620661 C10ORF88 skos:exactMatch hgnc.symbol:C10orf88 semapv:UnspecifiedMatching +OMIM:620661 C10ORF88 skos:exactMatch ncbigene:80007 semapv:UnspecifiedMatching +OMIM:620662 hoxha-aliu syndrome skos:exactMatch MONDO:0958005 semapv:UnspecifiedMatching +OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau iia skos:exactMatch MONDO:0958006 semapv:UnspecifiedMatching +OMIM:620664 ARHGEF37 skos:exactMatch hgnc.symbol:34430 semapv:UnspecifiedMatching +OMIM:620664 ARHGEF37 skos:exactMatch hgnc.symbol:ARHGEF37 semapv:UnspecifiedMatching +OMIM:620664 ARHGEF37 skos:exactMatch ncbigene:389337 semapv:UnspecifiedMatching +OMIM:620665 PLEKHG4B skos:exactMatch hgnc.symbol:29399 semapv:UnspecifiedMatching +OMIM:620665 PLEKHG4B skos:exactMatch hgnc.symbol:PLEKHG4B semapv:UnspecifiedMatching +OMIM:620665 PLEKHG4B skos:exactMatch ncbigene:153478 semapv:UnspecifiedMatching +OMIM:620666 spastic ataxia 10, autosomal recessive skos:exactMatch MONDO:0958009 semapv:UnspecifiedMatching +OMIM:620667 CEP128 skos:exactMatch hgnc.symbol:20359 semapv:UnspecifiedMatching +OMIM:620667 CEP128 skos:exactMatch hgnc.symbol:CEP128 semapv:UnspecifiedMatching +OMIM:620667 CEP128 skos:exactMatch ncbigene:145508 semapv:UnspecifiedMatching +OMIM:620668 immunodeficiency 117 skos:exactMatch MONDO:0958011 semapv:UnspecifiedMatching +OMIM:620669 neurodegeneration with brain iron accumulation 9 skos:exactMatch MONDO:0958012 semapv:UnspecifiedMatching +OMIM:620670 immunodeficiency, common variable, 15 skos:exactMatch MONDO:0958013 semapv:UnspecifiedMatching +OMIM:620671 POU2AF2 skos:exactMatch hgnc.symbol:30527 semapv:UnspecifiedMatching +OMIM:620671 POU2AF2 skos:exactMatch hgnc.symbol:POU2AF2 semapv:UnspecifiedMatching +OMIM:620671 POU2AF2 skos:exactMatch ncbigene:341032 semapv:UnspecifiedMatching +OMIM:620672 LRRC24 skos:exactMatch hgnc.symbol:28947 semapv:UnspecifiedMatching +OMIM:620672 LRRC24 skos:exactMatch hgnc.symbol:LRRC24 semapv:UnspecifiedMatching +OMIM:620672 LRRC24 skos:exactMatch ncbigene:441381 semapv:UnspecifiedMatching +OMIM:620673 MAP1LC3B2 skos:exactMatch hgnc.symbol:34390 semapv:UnspecifiedMatching +OMIM:620673 MAP1LC3B2 skos:exactMatch hgnc.symbol:MAP1LC3B2 semapv:UnspecifiedMatching +OMIM:620673 MAP1LC3B2 skos:exactMatch ncbigene:643246 semapv:UnspecifiedMatching +OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant skos:exactMatch MONDO:0958017 semapv:UnspecifiedMatching +OMIM:620675 leukodystrophy, hypomyelinating, 27 skos:exactMatch MONDO:0958018 semapv:UnspecifiedMatching +OMIM:620676 CCDC61 skos:exactMatch hgnc.symbol:33629 semapv:UnspecifiedMatching +OMIM:620676 CCDC61 skos:exactMatch hgnc.symbol:CCDC61 semapv:UnspecifiedMatching +OMIM:620676 CCDC61 skos:exactMatch ncbigene:729440 semapv:UnspecifiedMatching +OMIM:620677 TMEM192 skos:exactMatch hgnc.symbol:26775 semapv:UnspecifiedMatching +OMIM:620677 TMEM192 skos:exactMatch hgnc.symbol:TMEM192 semapv:UnspecifiedMatching +OMIM:620677 TMEM192 skos:exactMatch ncbigene:201931 semapv:UnspecifiedMatching +OMIM:620678 RINL skos:exactMatch hgnc.symbol:24795 semapv:UnspecifiedMatching +OMIM:620678 RINL skos:exactMatch hgnc.symbol:RINL semapv:UnspecifiedMatching +OMIM:620678 RINL skos:exactMatch ncbigene:126432 semapv:UnspecifiedMatching +OMIM:620679 lipodystrophy, familial partial, iia 8 skos:exactMatch MONDO:0958022 semapv:UnspecifiedMatching +OMIM:620680 lipodystrophy, congenital generalized, iia 5 skos:exactMatch MONDO:0958023 semapv:UnspecifiedMatching +OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:30232 semapv:UnspecifiedMatching +OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:SZRD1 semapv:UnspecifiedMatching +OMIM:620682 SZRD1 skos:exactMatch ncbigene:26099 semapv:UnspecifiedMatching +OMIM:620683 lipodystrophy, familial partial, iia 9 skos:exactMatch MONDO:0958034 semapv:UnspecifiedMatching +OMIM:620684 HGH1 skos:exactMatch hgnc.symbol:24161 semapv:UnspecifiedMatching +OMIM:620684 HGH1 skos:exactMatch hgnc.symbol:HGH1 semapv:UnspecifiedMatching +OMIM:620684 HGH1 skos:exactMatch ncbigene:51236 semapv:UnspecifiedMatching +OMIM:620685 C19ORF53 skos:exactMatch hgnc.symbol:24991 semapv:UnspecifiedMatching +OMIM:620685 C19ORF53 skos:exactMatch hgnc.symbol:C19orf53 semapv:UnspecifiedMatching +OMIM:620685 C19ORF53 skos:exactMatch ncbigene:28974 semapv:UnspecifiedMatching +OMIM:620686 premature ovarian failure 23 skos:exactMatch MONDO:0958035 semapv:UnspecifiedMatching +OMIM:620689 LSM14B skos:exactMatch hgnc.symbol:15887 semapv:UnspecifiedMatching +OMIM:620689 LSM14B skos:exactMatch hgnc.symbol:LSM14B semapv:UnspecifiedMatching +OMIM:620689 LSM14B skos:exactMatch ncbigene:149986 semapv:UnspecifiedMatching +OMIM:620690 developmental dysplasia of the hip 3 skos:exactMatch MONDO:0958037 semapv:UnspecifiedMatching +OMIM:620691 BUD13 skos:exactMatch hgnc.symbol:28199 semapv:UnspecifiedMatching +OMIM:620691 BUD13 skos:exactMatch hgnc.symbol:BUD13 semapv:UnspecifiedMatching +OMIM:620691 BUD13 skos:exactMatch ncbigene:84811 semapv:UnspecifiedMatching +OMIM:620692 NANOGNB skos:exactMatch hgnc.symbol:24958 semapv:UnspecifiedMatching +OMIM:620692 NANOGNB skos:exactMatch hgnc.symbol:NANOGNB semapv:UnspecifiedMatching +OMIM:620692 NANOGNB skos:exactMatch ncbigene:360030 semapv:UnspecifiedMatching +OMIM:620693 ASTE1 skos:exactMatch hgnc.symbol:25021 semapv:UnspecifiedMatching +OMIM:620693 ASTE1 skos:exactMatch hgnc.symbol:ASTE1 semapv:UnspecifiedMatching +OMIM:620693 ASTE1 skos:exactMatch ncbigene:28990 semapv:UnspecifiedMatching +OMIM:620694 TTLL11 skos:exactMatch hgnc.symbol:18113 semapv:UnspecifiedMatching +OMIM:620694 TTLL11 skos:exactMatch hgnc.symbol:TTLL11 semapv:UnspecifiedMatching +OMIM:620694 TTLL11 skos:exactMatch ncbigene:158135 semapv:UnspecifiedMatching +OMIM:620695 NOTO skos:exactMatch hgnc.symbol:31839 semapv:UnspecifiedMatching +OMIM:620695 NOTO skos:exactMatch hgnc.symbol:NOTO semapv:UnspecifiedMatching +OMIM:620695 NOTO skos:exactMatch ncbigene:344022 semapv:UnspecifiedMatching +OMIM:620696 RITA1 skos:exactMatch hgnc.symbol:25925 semapv:UnspecifiedMatching +OMIM:620696 RITA1 skos:exactMatch hgnc.symbol:RITA1 semapv:UnspecifiedMatching +OMIM:620696 RITA1 skos:exactMatch ncbigene:84934 semapv:UnspecifiedMatching +OMIM:620697 ZCCHC14 skos:exactMatch hgnc.symbol:24134 semapv:UnspecifiedMatching +OMIM:620697 ZCCHC14 skos:exactMatch hgnc.symbol:ZCCHC14 semapv:UnspecifiedMatching +OMIM:620697 ZCCHC14 skos:exactMatch ncbigene:23174 semapv:UnspecifiedMatching +OMIM:620701 TTC36 skos:exactMatch hgnc.symbol:33708 semapv:UnspecifiedMatching +OMIM:620701 TTC36 skos:exactMatch hgnc.symbol:TTC36 semapv:UnspecifiedMatching +OMIM:620701 TTC36 skos:exactMatch ncbigene:143941 semapv:UnspecifiedMatching +OMIM:620702 MCUB skos:exactMatch hgnc.symbol:26076 semapv:UnspecifiedMatching +OMIM:620702 MCUB skos:exactMatch hgnc.symbol:MCUB semapv:UnspecifiedMatching +OMIM:620702 MCUB skos:exactMatch ncbigene:55013 semapv:UnspecifiedMatching +omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching +omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching +omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching +omim.ps:102200 Pituitary adenoma skos:exactMatch MONDO:0017824 semapv:UnspecifiedMatching +omim.ps:102300 Restless legs syndrome skos:exactMatch MONDO:0100170 semapv:UnspecifiedMatching +omim.ps:103900 Hyperaldosteronism skos:exactMatch MONDO:0016525 semapv:UnspecifiedMatching +omim.ps:104290 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 semapv:UnspecifiedMatching +omim.ps:104500 Amelogenesis imperfecta skos:exactMatch MONDO:0019507 semapv:UnspecifiedMatching +omim.ps:105250 Amyloidosis, primary localized cutaneous skos:exactMatch MONDO:0007101 semapv:UnspecifiedMatching +omim.ps:105400 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0005144 semapv:UnspecifiedMatching +omim.ps:105500 skos:exactMatch MONDO:0030923 semapv:UnspecifiedMatching +omim.ps:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch MONDO:0017161 semapv:UnspecifiedMatching +omim.ps:105650 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 semapv:UnspecifiedMatching +omim.ps:105800 Aneurysm, intracranial berry skos:exactMatch MONDO:0016483 semapv:UnspecifiedMatching +omim.ps:106100 Angioedema, Hereditary skos:exactMatch MONDO:0019623 semapv:UnspecifiedMatching +omim.ps:106210 Aniridia skos:exactMatch MONDO:0007119 semapv:UnspecifiedMatching +omim.ps:106300 Spondyloarthropathy, susceptibility to skos:exactMatch MONDO:0024512 semapv:UnspecifiedMatching +omim.ps:106600 Tooth agenesis, selective skos:exactMatch MONDO:0005486 semapv:UnspecifiedMatching +omim.ps:107250 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 semapv:UnspecifiedMatching +omim.ps:107480 Townes-Brocks syndrome skos:exactMatch MONDO:0007142 semapv:UnspecifiedMatching +omim.ps:107970 Arrhythmogenic right ventricular dysplasia skos:exactMatch MONDO:0016342 semapv:UnspecifiedMatching +omim.ps:108120 Arthrogryposis, distal skos:exactMatch MONDO:0019942 semapv:UnspecifiedMatching +omim.ps:108300 Stickler syndrome skos:exactMatch MONDO:0019354 semapv:UnspecifiedMatching +omim.ps:108600 Spastic ataxia skos:exactMatch MONDO:0017845 semapv:UnspecifiedMatching +omim.ps:108720 Atelosteogenesis skos:exactMatch MONDO:0000389 semapv:UnspecifiedMatching +omim.ps:108800 Atrial septal defect skos:exactMatch MONDO:0006664 semapv:UnspecifiedMatching +omim.ps:109400 Basal cell nevus syndrome skos:exactMatch MONDO:0007187 semapv:UnspecifiedMatching +omim.ps:109720 Biliary cirrhosis, primary skos:exactMatch MONDO:0005388 semapv:UnspecifiedMatching +omim.ps:109730 Aortic valve disease skos:exactMatch MONDO:0007194 semapv:UnspecifiedMatching +omim.ps:112240 Cole-Carpenter syndrome skos:exactMatch MONDO:0016085 semapv:UnspecifiedMatching +omim.ps:113700 Breasts and/or nipples, aplasia or hypoplasia of skos:exactMatch MONDO:0015855 semapv:UnspecifiedMatching +omim.ps:113800 Epidermolytic hyperkeratosis skos:exactMatch MONDO:0957316 semapv:UnspecifiedMatching +omim.ps:113900 Progressive familial heart block skos:exactMatch MONDO:0019490 semapv:UnspecifiedMatching +omim.ps:114580 Familial candidiasis skos:exactMatch MONDO:0015279 semapv:UnspecifiedMatching +omim.ps:115150 Cardiofaciocutaneous syndrome skos:exactMatch MONDO:0015280 semapv:UnspecifiedMatching +omim.ps:115200 Dilated cardiomyopathy skos:exactMatch MONDO:0016333 semapv:UnspecifiedMatching +omim.ps:115210 Familial restrictive cardiomyopathy skos:exactMatch MONDO:0016340 semapv:UnspecifiedMatching +omim.ps:115430 Carpal tunnel syndrome skos:exactMatch MONDO:0007275 semapv:UnspecifiedMatching +omim.ps:116200 Cataract skos:exactMatch MONDO:0005129 semapv:UnspecifiedMatching +omim.ps:116860 Cerebral cavernous malformations skos:exactMatch MONDO:0031037 semapv:UnspecifiedMatching +omim.ps:117000 Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) skos:exactMatch MONDO:0019952 semapv:UnspecifiedMatching +omim.ps:118100 Klippel-Feil syndrome skos:exactMatch MONDO:0001029 semapv:UnspecifiedMatching +omim.ps:118220 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 semapv:UnspecifiedMatching +omim.ps:118450 Alagille syndrome skos:exactMatch MONDO:0007318 semapv:UnspecifiedMatching +omim.ps:119530 Orofacial cleft skos:exactMatch MONDO:0000358 semapv:UnspecifiedMatching +omim.ps:119580 Blepharocheilodontic syndrome skos:exactMatch MONDO:0007339 semapv:UnspecifiedMatching +omim.ps:120100 Familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 semapv:UnspecifiedMatching +omim.ps:120435 Colorectal cancer, hereditary nonpolyposis skos:exactMatch MONDO:0018630 semapv:UnspecifiedMatching +omim.ps:120970 Cone-rod dystrophy/Cone dystrophy skos:exactMatch MONDO:0015993 semapv:UnspecifiedMatching +omim.ps:121200 Seizures, benign familial neonatal skos:exactMatch MONDO:0016027 semapv:UnspecifiedMatching +omim.ps:121210 Seizures, familial febrile skos:exactMatch MONDO:0000032 semapv:UnspecifiedMatching +omim.ps:121400 Cornea plana skos:exactMatch MONDO:0000733 semapv:UnspecifiedMatching +omim.ps:122000 Corneal dystrophy, posterior polymorphous skos:exactMatch MONDO:0020364 semapv:UnspecifiedMatching +omim.ps:122100 Corneal dystrophy, Meesmann skos:exactMatch MONDO:0007379 semapv:UnspecifiedMatching +omim.ps:122470 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 semapv:UnspecifiedMatching +omim.ps:123000 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 semapv:UnspecifiedMatching +omim.ps:123100 Craniosynostosis skos:exactMatch MONDO:0015469 semapv:UnspecifiedMatching +omim.ps:123700 Cutis laxa skos:exactMatch MONDO:0100237 semapv:UnspecifiedMatching +omim.ps:124000 Mitochondrial complex III deficiency, nuclear type skos:exactMatch MONDO:0020811 semapv:UnspecifiedMatching +omim.ps:124900 Deafness, autosomal dominant skos:exactMatch MONDO:0019587 semapv:UnspecifiedMatching +omim.ps:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0007432 semapv:UnspecifiedMatching +omim.ps:126200 Multiple sclerosis, susceptibility to skos:exactMatch MONDO:0007462 semapv:UnspecifiedMatching +omim.ps:126800 Duane retraction syndrome skos:exactMatch MONDO:0007473 semapv:UnspecifiedMatching +omim.ps:127000 Kenny-Caffey syndrome skos:exactMatch MONDO:0016516 semapv:UnspecifiedMatching +omim.ps:127500 Dyschromatosis universalis hereditaria skos:exactMatch MONDO:0000736 semapv:UnspecifiedMatching +omim.ps:127550 Dyskeratosis congenita skos:exactMatch MONDO:0015780 semapv:UnspecifiedMatching +omim.ps:128100 Dystonia skos:exactMatch MONDO:0044807 semapv:UnspecifiedMatching +omim.ps:128200 Episodic kinesigenic dyskinesia skos:exactMatch MONDO:0044202 semapv:UnspecifiedMatching +omim.ps:130000 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 semapv:UnspecifiedMatching +omim.ps:131100 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 semapv:UnspecifiedMatching +omim.ps:131760 Epidermolysis Bullosa Simplex skos:exactMatch MONDO:0017610 semapv:UnspecifiedMatching +omim.ps:132100 Photoparoxysmal response skos:exactMatch MONDO:0015643 semapv:UnspecifiedMatching +omim.ps:132400 Epiphyseal dysplasia, multiple skos:exactMatch MONDO:0016648 semapv:UnspecifiedMatching +omim.ps:133100 Erythrocytosis, familial skos:exactMatch MONDO:0001115 semapv:UnspecifiedMatching +omim.ps:133200 Erythrokeratodermia variabilis et progressiva skos:exactMatch MONDO:0017851 semapv:UnspecifiedMatching +omim.ps:133700 Exostoses, Multiple skos:exactMatch MONDO:0005508 semapv:UnspecifiedMatching +omim.ps:133780 Exudative vitreoretinopathy skos:exactMatch MONDO:0019516 semapv:UnspecifiedMatching +omim.ps:134600 Fanconi renotubular syndrome skos:exactMatch MONDO:0100238 semapv:UnspecifiedMatching +omim.ps:135150 Birt-Hogg-Dube syndrome skos:exactMatch MONDO:0800444 semapv:UnspecifiedMatching +omim.ps:135300 Gingival fibromatosis skos:exactMatch MONDO:0016070 semapv:UnspecifiedMatching +omim.ps:135500 Zimmermann-Laband syndrome skos:exactMatch MONDO:0000200 semapv:UnspecifiedMatching +omim.ps:135700 Fibrosis of extraocular muscles, congenital skos:exactMatch MONDO:0007614 semapv:UnspecifiedMatching +omim.ps:135900 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 semapv:UnspecifiedMatching +omim.ps:136500 Focal facial dermal dysplasia skos:exactMatch MONDO:0018363 semapv:UnspecifiedMatching +omim.ps:136520 Foveal hypoplasia skos:exactMatch MONDO:0044203 semapv:UnspecifiedMatching +omim.ps:136550 Macular dystrophy, retinal skos:exactMatch MONDO:0031166 semapv:UnspecifiedMatching +omim.ps:136760 Frontonasal dysplasia skos:exactMatch MONDO:0016643 semapv:UnspecifiedMatching +omim.ps:136800 Corneal dystrophy, Fuchs endothelial skos:exactMatch MONDO:0005321 semapv:UnspecifiedMatching +omim.ps:137800 Glioma skos:exactMatch MONDO:0100242 semapv:UnspecifiedMatching +omim.ps:137950 Glomerulopathy with fibronectin deposits skos:exactMatch MONDO:0007671 semapv:UnspecifiedMatching +omim.ps:138800 Goiter, multinodular skos:exactMatch MONDO:0000334 semapv:UnspecifiedMatching +omim.ps:141200 Hematuria, benign familial skos:exactMatch MONDO:0957317 semapv:UnspecifiedMatching +omim.ps:141500 Migraine, familial hemiplegic skos:exactMatch MONDO:0000700 semapv:UnspecifiedMatching +omim.ps:142340 Diaphragmatic hernia skos:exactMatch MONDO:0005711 semapv:UnspecifiedMatching +omim.ps:142623 Hirschsprung disease skos:exactMatch MONDO:0018309 semapv:UnspecifiedMatching +omim.ps:142690 Acne inversa skos:exactMatch MONDO:0024516 semapv:UnspecifiedMatching +omim.ps:142700 Developmental dysplasia of the hip skos:exactMatch MONDO:0000158 semapv:UnspecifiedMatching +omim.ps:143880 Hypercalcemia, infantile skos:exactMatch MONDO:0000212 semapv:UnspecifiedMatching +omim.ps:143890 Hypercholesterolemia, familial skos:exactMatch MONDO:0005439 semapv:UnspecifiedMatching +omim.ps:145000 Hyperparathyroidism skos:exactMatch MONDO:0016166 semapv:UnspecifiedMatching +omim.ps:145260 Pseudohypoaldosteronism, type II skos:exactMatch MONDO:0019162 semapv:UnspecifiedMatching +omim.ps:145420 Teebi hypertelorism syndrome skos:exactMatch MONDO:0030639 semapv:UnspecifiedMatching +omim.ps:145600 Malignant hyperthermia skos:exactMatch MONDO:0800188 semapv:UnspecifiedMatching +omim.ps:145980 Hypocalciuric hypercalcemia skos:exactMatch MONDO:0018458 semapv:UnspecifiedMatching +omim.ps:146200 Hypoparathyroidism, familial skos:exactMatch MONDO:0016390 semapv:UnspecifiedMatching +omim.ps:146590 Ichthyosis hystrix skos:exactMatch MONDO:0859383 semapv:UnspecifiedMatching +omim.ps:147060 Hyper-IgE recurrent infection syndrome skos:exactMatch MONDO:0018037 semapv:UnspecifiedMatching +omim.ps:147920 Kabuki syndrome skos:exactMatch MONDO:0016512 semapv:UnspecifiedMatching +omim.ps:147950 Hypogonadotropic hypogonadism with or without anosmia skos:exactMatch MONDO:0018555 semapv:UnspecifiedMatching +omim.ps:148210 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 semapv:UnspecifiedMatching +omim.ps:148300 Keratoconus skos:exactMatch MONDO:0015486 semapv:UnspecifiedMatching +omim.ps:149400 Hyperekplexia skos:exactMatch MONDO:0021022 semapv:UnspecifiedMatching +omim.ps:149730 Lacrimoauriculodentodigital syndrome skos:exactMatch MONDO:0007872 semapv:UnspecifiedMatching +omim.ps:151100 LEOPARD syndrome skos:exactMatch MONDO:0007893 semapv:UnspecifiedMatching +omim.ps:151660 Lipodystrophy, familial partial skos:exactMatch MONDO:0020088 semapv:UnspecifiedMatching +omim.ps:153100 Lymphatic malformation skos:exactMatch MONDO:0019313 semapv:UnspecifiedMatching +omim.ps:153600 Macroglobulinemia, Waldenstrom skos:exactMatch MONDO:0100280 semapv:UnspecifiedMatching +omim.ps:153840 Macular dystrophy, vitelliform skos:exactMatch MONDO:0000390 semapv:UnspecifiedMatching +omim.ps:154500 Treacher Collins syndrome skos:exactMatch MONDO:0002457 semapv:UnspecifiedMatching +omim.ps:155600 Melanoma, cutaneous malignant skos:exactMatch MONDO:0024462 semapv:UnspecifiedMatching +omim.ps:156200 Intellectual developmental disorder, autosomal dominant skos:exactMatch MONDO:0100172 semapv:UnspecifiedMatching +omim.ps:156610 Skin creases, congenital symmetric circumferential skos:exactMatch MONDO:0000204 semapv:UnspecifiedMatching +omim.ps:156850 skos:exactMatch MONDO:0000169 semapv:UnspecifiedMatching +omim.ps:157300 Migraine with or without aura, susceptibility to skos:exactMatch MONDO:0100246 semapv:UnspecifiedMatching +omim.ps:157600 Mirror movements skos:exactMatch MONDO:0016558 semapv:UnspecifiedMatching +omim.ps:157640 Progressive external ophthalmoplegia with mtDNA deletions skos:exactMatch MONDO:0000090 semapv:UnspecifiedMatching +omim.ps:157700 Mitral valve prolapse, myxomatous skos:exactMatch MONDO:0008004 semapv:UnspecifiedMatching +omim.ps:158350 Cowden disease skos:exactMatch MONDO:0016063 semapv:UnspecifiedMatching +omim.ps:158600 Spinal muscular atrophy, lower extremity-predominant skos:exactMatch MONDO:0018190 semapv:UnspecifiedMatching +omim.ps:158810 Bethlem myopathy skos:exactMatch MONDO:0008029 semapv:UnspecifiedMatching +omim.ps:158900 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 semapv:UnspecifiedMatching +omim.ps:160120 Episodic ataxia skos:exactMatch MONDO:0016227 semapv:UnspecifiedMatching +omim.ps:160150 Myopathy, centronuclear skos:exactMatch MONDO:0018947 semapv:UnspecifiedMatching +omim.ps:160500 Myopathy, distal skos:exactMatch MONDO:0018949 semapv:UnspecifiedMatching +omim.ps:160565 Myopathy, tubular aggregate skos:exactMatch MONDO:0008051 semapv:UnspecifiedMatching +omim.ps:160700 Myopia skos:exactMatch MONDO:0001384 semapv:UnspecifiedMatching +omim.ps:160900 Myotonic dystrophy skos:exactMatch MONDO:0016107 semapv:UnspecifiedMatching +omim.ps:161050 Nail disorder, nonsyndromic congenital skos:exactMatch MONDO:0019284 semapv:UnspecifiedMatching +omim.ps:161400 Narcolepsy skos:exactMatch MONDO:0021107 semapv:UnspecifiedMatching +omim.ps:161800 Nemaline myopathy skos:exactMatch MONDO:0018958 semapv:UnspecifiedMatching +omim.ps:161950 IgA nephropathy skos:exactMatch MONDO:0005342 semapv:UnspecifiedMatching +omim.ps:162000 Tubulointerstitial kidney disease skos:exactMatch MONDO:0000608 semapv:UnspecifiedMatching +omim.ps:162091 Schwannomatosis skos:exactMatch MONDO:0008075 semapv:UnspecifiedMatching +omim.ps:162400 Hereditary sensory and autonomic neuropathy skos:exactMatch MONDO:0015364 semapv:UnspecifiedMatching +omim.ps:163950 Noonan syndrome skos:exactMatch MONDO:0018997 semapv:UnspecifiedMatching +omim.ps:164210 Craniofacial Microsomia skos:exactMatch MONDO:0015397 semapv:UnspecifiedMatching +omim.ps:164280 Feingold syndrome skos:exactMatch MONDO:0015267 semapv:UnspecifiedMatching +omim.ps:164300 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 semapv:UnspecifiedMatching +omim.ps:164310 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 semapv:UnspecifiedMatching +omim.ps:164400 Spinocerebellar ataxia skos:exactMatch MONDO:0020380 semapv:UnspecifiedMatching +omim.ps:165500 Optic atrophy skos:exactMatch MONDO:0043878 semapv:UnspecifiedMatching +omim.ps:166200 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 semapv:UnspecifiedMatching +omim.ps:166780 Otofaciocervical syndrome skos:exactMatch MONDO:0008163 semapv:UnspecifiedMatching +omim.ps:166800 Otosclerosis skos:exactMatch MONDO:0005349 semapv:UnspecifiedMatching +omim.ps:167030 Nephrolithiasis, calcium oxalate skos:exactMatch MONDO:0957318 semapv:UnspecifiedMatching +omim.ps:167200 Pachyonychia congenita skos:exactMatch MONDO:0016471 semapv:UnspecifiedMatching +omim.ps:167250 Paget disease of bone skos:exactMatch MONDO:0005382 semapv:UnspecifiedMatching +omim.ps:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia skos:exactMatch MONDO:0000507 semapv:UnspecifiedMatching +omim.ps:167870 Panic disorder skos:exactMatch MONDO:0031240 semapv:UnspecifiedMatching +omim.ps:168000 Pheochromocytoma/paraganglioma syndrome skos:exactMatch MONDO:0000448 semapv:UnspecifiedMatching +omim.ps:168500 Parietal foramina skos:exactMatch MONDO:0018953 semapv:UnspecifiedMatching +omim.ps:168600 Parkinson disease skos:exactMatch MONDO:0005180 semapv:UnspecifiedMatching +omim.ps:169150 Macular dystrophy, patterned skos:exactMatch MONDO:0020381 semapv:UnspecifiedMatching +omim.ps:173900 Polycystic kidney disease skos:exactMatch MONDO:0020642 semapv:UnspecifiedMatching +omim.ps:174050 Polycystic liver disease skos:exactMatch MONDO:0000447 semapv:UnspecifiedMatching +omim.ps:174200 Polydactyly, postaxial skos:exactMatch MONDO:0020927 semapv:UnspecifiedMatching +omim.ps:174400 Polydactyly, preaxial skos:exactMatch MONDO:0017425 semapv:UnspecifiedMatching +omim.ps:175100 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 semapv:UnspecifiedMatching +omim.ps:175780 Brain small vessel disease skos:exactMatch MONDO:0020496 semapv:UnspecifiedMatching +omim.ps:175800 Porokeratosis skos:exactMatch MONDO:0006602 semapv:UnspecifiedMatching +omim.ps:176400 Precocious puberty, central skos:exactMatch MONDO:0019165 semapv:UnspecifiedMatching +omim.ps:176670 Progeria skos:exactMatch MONDO:0020732 semapv:UnspecifiedMatching +omim.ps:177000 Protoporphyria, erythropoietic skos:exactMatch MONDO:0001676 semapv:UnspecifiedMatching +omim.ps:177200 Liddle syndrome skos:exactMatch MONDO:0008323 semapv:UnspecifiedMatching +omim.ps:177735 Pseudohypoaldosteronism, type I skos:exactMatch MONDO:0957319 semapv:UnspecifiedMatching +omim.ps:177900 Psoriasis skos:exactMatch MONDO:0005083 semapv:UnspecifiedMatching +omim.ps:178110 Contractures, pterygia, and variable skeletal fusions syndrome skos:exactMatch MONDO:0020937 semapv:UnspecifiedMatching +omim.ps:178600 Pulmonary hypertension, primary skos:exactMatch MONDO:0017148 semapv:UnspecifiedMatching +omim.ps:179010 Pyloric stenosis, infantile hypertrophic skos:exactMatch MONDO:0100239 semapv:UnspecifiedMatching +omim.ps:179800 Distal renal tubular acidosis skos:exactMatch MONDO:0015827 semapv:UnspecifiedMatching +omim.ps:179850 Reticulate pigment disorders skos:exactMatch MONDO:0000118 semapv:UnspecifiedMatching +omim.ps:180500 Axenfeld-Rieger syndrome skos:exactMatch MONDO:0019187 semapv:UnspecifiedMatching +omim.ps:180849 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 semapv:UnspecifiedMatching +omim.ps:180860 Silver-Russell syndrome skos:exactMatch MONDO:0008394 semapv:UnspecifiedMatching +omim.ps:182250 Singleton-Merten syndrome skos:exactMatch MONDO:0008429 semapv:UnspecifiedMatching +omim.ps:182960 Neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch MONDO:0015362 semapv:UnspecifiedMatching +omim.ps:183600 Split-hand/foot malformation skos:exactMatch MONDO:0016576 semapv:UnspecifiedMatching +omim.ps:184255 Spondylometaphyseal dysplasia skos:exactMatch MONDO:0016763 semapv:UnspecifiedMatching +omim.ps:184260 Odontochondrodysplasia skos:exactMatch MONDO:0031169 semapv:UnspecifiedMatching +omim.ps:184450 Stuttering, familial persistent skos:exactMatch MONDO:0000723 semapv:UnspecifiedMatching +omim.ps:184840 Otospondylomegaepiphyseal dysplasia skos:exactMatch MONDO:0008975 semapv:UnspecifiedMatching +omim.ps:185800 Proximal symphalangism skos:exactMatch MONDO:0008511 semapv:UnspecifiedMatching +omim.ps:186500 Multiple synostoses syndrome skos:exactMatch MONDO:0017923 semapv:UnspecifiedMatching +omim.ps:187300 Telangiectasia, hereditary hemorrhagic skos:exactMatch MONDO:0019180 semapv:UnspecifiedMatching +omim.ps:187950 Thrombocythemia skos:exactMatch MONDO:0019111 semapv:UnspecifiedMatching +omim.ps:188050 Thrombophilia skos:exactMatch MONDO:0100240 semapv:UnspecifiedMatching +omim.ps:188550 Thyroid cancer, nonmedullary skos:exactMatch MONDO:0017896 semapv:UnspecifiedMatching +omim.ps:188580 Thyrotoxic periodic paralysis skos:exactMatch MONDO:0019201 semapv:UnspecifiedMatching +omim.ps:189800 Preeclampsia/eclampsia skos:exactMatch MONDO:0005081 semapv:UnspecifiedMatching +omim.ps:190300 Tremor, hereditary essential skos:exactMatch MONDO:0003233 semapv:UnspecifiedMatching +omim.ps:190350 Trichorhinophalangeal syndrome skos:exactMatch MONDO:0017951 semapv:UnspecifiedMatching +omim.ps:190440 Trigonocephaly, isolated skos:exactMatch MONDO:0018065 semapv:UnspecifiedMatching +omim.ps:191100 Tuberous sclerosis skos:exactMatch MONDO:0001734 semapv:UnspecifiedMatching +omim.ps:191830 Renal hypodysplasia/aplasia skos:exactMatch MONDO:0018470 semapv:UnspecifiedMatching +omim.ps:192500 Long QT syndrome skos:exactMatch MONDO:0019171 semapv:UnspecifiedMatching +omim.ps:192600 Cardiomyopathy, familial hypertrophic skos:exactMatch MONDO:0024573 semapv:UnspecifiedMatching +omim.ps:193000 Vesicoureteral reflux skos:exactMatch MONDO:0017329 semapv:UnspecifiedMatching +omim.ps:193100 Hypophosphatemic rickets skos:exactMatch MONDO:0000044 semapv:UnspecifiedMatching +omim.ps:193500 Waardenburg syndrome skos:exactMatch MONDO:0018094 semapv:UnspecifiedMatching +omim.ps:193670 WHIM syndrome skos:exactMatch MONDO:0023880 semapv:UnspecifiedMatching +omim.ps:193900 White sponge nevus skos:exactMatch MONDO:0015748 semapv:UnspecifiedMatching +omim.ps:194070 Wilms tumor skos:exactMatch MONDO:0003321 semapv:UnspecifiedMatching +omim.ps:200600 Achondrogenesis skos:exactMatch MONDO:0019648 semapv:UnspecifiedMatching +omim.ps:201000 Carpenter syndrome skos:exactMatch MONDO:0019012 semapv:UnspecifiedMatching +omim.ps:202200 Glucocorticoid deficiency skos:exactMatch MONDO:0008733 semapv:UnspecifiedMatching +omim.ps:202700 Neutropenia, severe congenital skos:exactMatch MONDO:0018542 semapv:UnspecifiedMatching +omim.ps:203100 Oculocutaneous albinism skos:exactMatch MONDO:0018910 semapv:UnspecifiedMatching +omim.ps:203300 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 semapv:UnspecifiedMatching +omim.ps:203650 Alopecia-intellectual disability syndrome skos:exactMatch MONDO:0008756 semapv:UnspecifiedMatching +omim.ps:203655 Alopecia, isolated skos:exactMatch MONDO:0000005 semapv:UnspecifiedMatching +omim.ps:204000 Leber congenital amaurosis skos:exactMatch MONDO:0018998 semapv:UnspecifiedMatching +omim.ps:206100 Anemia, hypochromic microcytic, with iron overload skos:exactMatch MONDO:0000104 semapv:UnspecifiedMatching +omim.ps:206500 Anencephaly skos:exactMatch MONDO:0000819 semapv:UnspecifiedMatching +omim.ps:208000 Generalized arterial calcification of infancy skos:exactMatch MONDO:0018870 semapv:UnspecifiedMatching +omim.ps:208085 Arthrogryposis, renal dysfunction, and cholestasis skos:exactMatch MONDO:0017123 semapv:UnspecifiedMatching +omim.ps:208150 Fetal akinesia deformation sequence skos:exactMatch MONDO:0008824 semapv:UnspecifiedMatching +omim.ps:208500 Short-rib thoracic dysplasia skos:exactMatch MONDO:0018770 semapv:UnspecifiedMatching +omim.ps:208540 Renal-hepatic-pancreatic dysplasia skos:exactMatch MONDO:0017417 semapv:UnspecifiedMatching +omim.ps:209850 Autism, susceptiblity to skos:exactMatch MONDO:0020836 semapv:UnspecifiedMatching +omim.ps:209880 Central hypoventilation syndrome, congenital skos:exactMatch MONDO:0800031 semapv:UnspecifiedMatching +omim.ps:209900 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 semapv:UnspecifiedMatching +omim.ps:210200 Methylcrotonylglycinuria skos:exactMatch MONDO:0018950 semapv:UnspecifiedMatching +omim.ps:210250 Sitosterolemia skos:exactMatch MONDO:0008863 semapv:UnspecifiedMatching +omim.ps:210600 Seckel syndrome skos:exactMatch MONDO:0019342 semapv:UnspecifiedMatching +omim.ps:210900 Microcephaly, growth restriction and increased sister chromatid exchange skos:exactMatch MONDO:0020629 semapv:UnspecifiedMatching +omim.ps:211400 Bronchiectasis skos:exactMatch MONDO:0004822 semapv:UnspecifiedMatching +omim.ps:211530 Brown-Vialetto-Van Laere syndrome skos:exactMatch MONDO:0008891 semapv:UnspecifiedMatching +omim.ps:211600 Cholestasis, progressive familial intrahepatic skos:exactMatch MONDO:0015762 semapv:UnspecifiedMatching +omim.ps:212065 Congenital disorders of glycosylation, type I skos:exactMatch MONDO:0005500 semapv:UnspecifiedMatching +omim.ps:212066 Congenital disorders of glycosylation, type II skos:exactMatch MONDO:0005501 semapv:UnspecifiedMatching +omim.ps:212093 Cardiac Valvular Defect skos:exactMatch MONDO:0031323 semapv:UnspecifiedMatching +omim.ps:212720 Martsolf syndrome skos:exactMatch MONDO:0023910 semapv:UnspecifiedMatching +omim.ps:212750 Celiac disease skos:exactMatch MONDO:0005130 semapv:UnspecifiedMatching +omim.ps:213200 Spinocerebellar ataxia, autosomal recessive skos:exactMatch MONDO:0015244 semapv:UnspecifiedMatching +omim.ps:213300 Joubert syndrome skos:exactMatch MONDO:0018772 semapv:UnspecifiedMatching +omim.ps:213600 Basal ganglia calcification, idiopathic skos:exactMatch MONDO:0008947 semapv:UnspecifiedMatching +omim.ps:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:exactMatch MONDO:0031329 semapv:UnspecifiedMatching +omim.ps:214100 Peroxisome biogenesis disorder skos:exactMatch MONDO:0019234 semapv:UnspecifiedMatching +omim.ps:214150 Cerebrooculofacioskeletal syndrome skos:exactMatch MONDO:0008926 semapv:UnspecifiedMatching +omim.ps:214450 Griscelli syndrome skos:exactMatch MONDO:0018306 semapv:UnspecifiedMatching +omim.ps:214700 Diarrhea, congenital skos:exactMatch MONDO:0000824 semapv:UnspecifiedMatching +omim.ps:215100 Rhizomelic chondrodysplasia punctata skos:exactMatch MONDO:0015776 semapv:UnspecifiedMatching +omim.ps:215500 Choroidal dystrophy, central areolar skos:exactMatch MONDO:0008982 semapv:UnspecifiedMatching +omim.ps:218330 Cranioectodermal dysplasia skos:exactMatch MONDO:0009032 semapv:UnspecifiedMatching +omim.ps:219000 Fraser syndrome skos:exactMatch MONDO:0009046 semapv:UnspecifiedMatching +omim.ps:220110 Mitochondrial complex IV deficiency, nuclear-type skos:exactMatch MONDO:0033885 semapv:UnspecifiedMatching +omim.ps:220210 Ritscher-Schinzel syndrome skos:exactMatch MONDO:0019078 semapv:UnspecifiedMatching +omim.ps:220290 Deafness, autosomal recessive skos:exactMatch MONDO:0019588 semapv:UnspecifiedMatching +omim.ps:220400 Jervell and Lange-Nielsen syndrome skos:exactMatch MONDO:0002441 semapv:UnspecifiedMatching +omim.ps:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch MONDO:0009092 semapv:UnspecifiedMatching +omim.ps:221820 Leukoencephalopathy, hereditary diffuse, with spheroids skos:exactMatch MONDO:0030796 semapv:UnspecifiedMatching +omim.ps:221900 Persistent hyperplastic primary vitreous skos:exactMatch MONDO:0019631 semapv:UnspecifiedMatching +omim.ps:222470 Trichohepatoenteric syndrome skos:exactMatch MONDO:0009105 semapv:UnspecifiedMatching +omim.ps:223360 Orthostatic hypotension skos:exactMatch MONDO:0021272 semapv:UnspecifiedMatching +omim.ps:224050 Cerebellar ataxia, mental retardation, and dysequilibrium skos:exactMatch MONDO:0009133 semapv:UnspecifiedMatching +omim.ps:224120 Anemia, congenital dyserythropoietic skos:exactMatch MONDO:0019403 semapv:UnspecifiedMatching +omim.ps:224690 Meier-Gorlin syndrome skos:exactMatch MONDO:0016817 semapv:UnspecifiedMatching +omim.ps:225750 Aicardi-Goutieres syndrome skos:exactMatch MONDO:0018866 semapv:UnspecifiedMatching +omim.ps:226400 Epidermodysplasia verruciformis, susceptibility to skos:exactMatch MONDO:0100043 semapv:UnspecifiedMatching +omim.ps:226650 Epidermolysis bullosa, junctional skos:exactMatch MONDO:0017612 semapv:UnspecifiedMatching +omim.ps:227220 Skin/hair/eye pigmentation, variation in skos:exactMatch MONDO:0033196 semapv:UnspecifiedMatching +omim.ps:227650 Fanconi anemia skos:exactMatch MONDO:0019391 semapv:UnspecifiedMatching +omim.ps:228520 Fibrochondrogenesis skos:exactMatch MONDO:0016068 semapv:UnspecifiedMatching +omim.ps:228550 Infantile myofibromatosis skos:exactMatch MONDO:0016824 semapv:UnspecifiedMatching +omim.ps:229200 Brittle cornea syndrome skos:exactMatch MONDO:0009242 semapv:UnspecifiedMatching +omim.ps:230400 Galactosemia skos:exactMatch MONDO:0018116 semapv:UnspecifiedMatching +omim.ps:231050 Geleophysic dysplasia skos:exactMatch MONDO:0000127 semapv:UnspecifiedMatching +omim.ps:231090 Hydatidiform mole, recurrent skos:exactMatch MONDO:0006248 semapv:UnspecifiedMatching +omim.ps:231200 Bleeding disorder, platelet-type skos:exactMatch MONDO:0000009 semapv:UnspecifiedMatching +omim.ps:232200 Glycogen storage disease skos:exactMatch MONDO:0002412 semapv:UnspecifiedMatching +omim.ps:233300 Ovarian dysgenesis skos:exactMatch MONDO:0009299 semapv:UnspecifiedMatching +omim.ps:233400 Perrault syndrome skos:exactMatch MONDO:0017312 semapv:UnspecifiedMatching +omim.ps:234200 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 semapv:UnspecifiedMatching +omim.ps:235200 Hemochromatosis skos:exactMatch MONDO:0006507 semapv:UnspecifiedMatching +omim.ps:235400 Hemolytic uremic syndrome skos:exactMatch MONDO:0957097 semapv:UnspecifiedMatching +omim.ps:235510 Hennekam lymphangiectasia-lymphedema syndrome skos:exactMatch MONDO:0016256 semapv:UnspecifiedMatching +omim.ps:236100 Holoprosencephaly skos:exactMatch MONDO:0016296 semapv:UnspecifiedMatching +omim.ps:236600 Hydrocephalus, congenital skos:exactMatch MONDO:0016349 semapv:UnspecifiedMatching +omim.ps:236670 Muscular dystrophy-dystroglycanopathy, type A skos:exactMatch MONDO:0000171 semapv:UnspecifiedMatching +omim.ps:236680 Hydrolethalus syndrome skos:exactMatch MONDO:0006037 semapv:UnspecifiedMatching +omim.ps:236730 Urofacial syndrome skos:exactMatch MONDO:0000463 semapv:UnspecifiedMatching +omim.ps:237450 Hyperbilirubinemia skos:exactMatch MONDO:0002408 semapv:UnspecifiedMatching +omim.ps:239300 Hyperphosphatasia with mental retardation syndrome skos:exactMatch MONDO:0016596 semapv:UnspecifiedMatching +omim.ps:241550 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 semapv:UnspecifiedMatching +omim.ps:242300 Ichthyosis, congenital, autosomal recessive skos:exactMatch MONDO:0017265 semapv:UnspecifiedMatching +omim.ps:242860 Immunodeficiency-centromeric instability-facial anomalies skos:exactMatch MONDO:0000133 semapv:UnspecifiedMatching +omim.ps:243150 Gastrointestinal defect and immunodeficiency syndrome skos:exactMatch MONDO:0030831 semapv:UnspecifiedMatching +omim.ps:243180 Visceral neuropathy, familial skos:exactMatch MONDO:0023961 semapv:UnspecifiedMatching +omim.ps:243300 Cholestasis, benign recurrent intrahepatic skos:exactMatch MONDO:0019008 semapv:UnspecifiedMatching +omim.ps:243310 Baraitser-Winter syndrome skos:exactMatch MONDO:0017579 semapv:UnspecifiedMatching +omim.ps:244400 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 semapv:UnspecifiedMatching +omim.ps:245480 Specific granule deficiency skos:exactMatch MONDO:0009506 semapv:UnspecifiedMatching +omim.ps:245590 Growth hormone insensitivity syndrome with immune dysregulation skos:exactMatch MONDO:0100210 semapv:UnspecifiedMatching +omim.ps:248370 Mandibuloacral dysplasia with lipodystrophy skos:exactMatch MONDO:0016584 semapv:UnspecifiedMatching +omim.ps:248600 Maple syrup urine disease skos:exactMatch MONDO:0009563 semapv:UnspecifiedMatching +omim.ps:249000 Meckel syndrome skos:exactMatch MONDO:0018921 semapv:UnspecifiedMatching +omim.ps:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0025986 semapv:UnspecifiedMatching +omim.ps:249270 Thiamine-responsive dysfunction syndrome skos:exactMatch MONDO:0000152 semapv:UnspecifiedMatching +omim.ps:249500 Intellectual developmental disorder, autosomal recessive skos:exactMatch MONDO:0019502 semapv:UnspecifiedMatching +omim.ps:250950 3-Methylglutaconic aciduria skos:exactMatch MONDO:0017359 semapv:UnspecifiedMatching +omim.ps:251200 Microcephaly, primary skos:exactMatch MONDO:0016660 semapv:UnspecifiedMatching +omim.ps:251270 Microcephaly and chorioretinopathy skos:exactMatch MONDO:0000181 semapv:UnspecifiedMatching +omim.ps:251280 Diencephalic-mesencephalic junction dysplasia syndrome skos:exactMatch MONDO:0017868 semapv:UnspecifiedMatching +omim.ps:251290 Pseudo-TORCH syndrome skos:exactMatch MONDO:0009626 semapv:UnspecifiedMatching +omim.ps:251300 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 semapv:UnspecifiedMatching +omim.ps:251450 Desbuquois dysplasia skos:exactMatch MONDO:0015426 semapv:UnspecifiedMatching +omim.ps:251600 Microphthalmia, isolated skos:exactMatch MONDO:0000062 semapv:UnspecifiedMatching +omim.ps:252010 Mitochondrial complex I deficiency, nuclear type skos:exactMatch MONDO:0100223 semapv:UnspecifiedMatching +omim.ps:252011 Mitochondrial complex II deficiency, nuclear type skos:exactMatch MONDO:0031230 semapv:UnspecifiedMatching +omim.ps:252150 Molybdenum cofactor deficiency skos:exactMatch MONDO:0020480 semapv:UnspecifiedMatching +omim.ps:252270 Monosomy 7 myelodysplasia and leukemia syndrome skos:exactMatch MONDO:0044645 semapv:UnspecifiedMatching +omim.ps:252350 Moyamoya disease skos:exactMatch MONDO:0016820 semapv:UnspecifiedMatching +omim.ps:253310 Lethal congenital contracture syndrome skos:exactMatch MONDO:0017436 semapv:UnspecifiedMatching +omim.ps:253600 Muscular dystrophy, limb-girdle, autosomal recessive skos:exactMatch MONDO:0015152 semapv:UnspecifiedMatching +omim.ps:254090 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 semapv:UnspecifiedMatching +omim.ps:254130 Miyoshi muscular dystrophy skos:exactMatch MONDO:0009685 semapv:UnspecifiedMatching +omim.ps:254770 Epilepsy, myoclonic juvenile skos:exactMatch MONDO:0009696 semapv:UnspecifiedMatching +omim.ps:254780 Myoclonic epilepsy of Lafora skos:exactMatch MONDO:0009697 semapv:UnspecifiedMatching +omim.ps:254800 Epilepsy, progressive myoclonic skos:exactMatch MONDO:0020074 semapv:UnspecifiedMatching +omim.ps:254940 Carey-Fineman-Ziter syndrome skos:exactMatch MONDO:0031415 semapv:UnspecifiedMatching +omim.ps:256040 Proteosome-associated autoinflammatory syndrome skos:exactMatch MONDO:0009726 semapv:UnspecifiedMatching +omim.ps:256100 Nephronophthisis skos:exactMatch MONDO:0019005 semapv:UnspecifiedMatching +omim.ps:256300 Nephrotic syndrome skos:exactMatch MONDO:0002350 semapv:UnspecifiedMatching +omim.ps:256450 Hyperinsulinemia hypoglycemia skos:exactMatch MONDO:0005803 semapv:UnspecifiedMatching +omim.ps:256520 Neu-Laxova syndrome skos:exactMatch MONDO:0000179 semapv:UnspecifiedMatching +omim.ps:256550 Mucolipidosis skos:exactMatch MONDO:0031422 semapv:UnspecifiedMatching +omim.ps:256730 Ceroid lipofuscinoses skos:exactMatch MONDO:0016295 semapv:UnspecifiedMatching +omim.ps:256850 Giant axonal neuropathy skos:exactMatch MONDO:0000128 semapv:UnspecifiedMatching +omim.ps:257300 Mosaic variegated aneuploidy syndrome skos:exactMatch MONDO:0000141 semapv:UnspecifiedMatching +omim.ps:257920 3MC syndrome skos:exactMatch MONDO:0017398 semapv:UnspecifiedMatching +omim.ps:258150 Spermatogenic failure skos:exactMatch MONDO:0004983 semapv:UnspecifiedMatching +omim.ps:258315 Omodysplasia skos:exactMatch MONDO:0017136 semapv:UnspecifiedMatching +omim.ps:259100 Hypertropic osteoarthropathy, primary skos:exactMatch MONDO:0016620 semapv:UnspecifiedMatching +omim.ps:259700 Osteopetrosis, autosomal recessive skos:exactMatch MONDO:0019026 semapv:UnspecifiedMatching +omim.ps:259900 Hyperoxaluria, primary skos:exactMatch MONDO:0002474 semapv:UnspecifiedMatching +omim.ps:260370 Pancreatic agenesis skos:exactMatch MONDO:0009832 semapv:UnspecifiedMatching +omim.ps:260400 Schwachman-Diamond syndrome skos:exactMatch MONDO:0009833 semapv:UnspecifiedMatching +omim.ps:261100 Imerslund-Grasbeck syndrome skos:exactMatch MONDO:0009853 semapv:UnspecifiedMatching +omim.ps:262400 Isolated growth hormone deficiency skos:exactMatch MONDO:0000050 semapv:UnspecifiedMatching +omim.ps:265120 Surfactant metabolism dysfunction, pulmonary skos:exactMatch MONDO:0012580 semapv:UnspecifiedMatching +omim.ps:265450 Pulmonary venoocclusive disease skos:exactMatch MONDO:0009937 semapv:UnspecifiedMatching +omim.ps:266600 Inflammatory bowel disease skos:exactMatch MONDO:0005265 semapv:UnspecifiedMatching +omim.ps:266900 Senior-Loken syndrome skos:exactMatch MONDO:0017842 semapv:UnspecifiedMatching +omim.ps:267700 Hemophagocytic lymphohistiocytosis, familial skos:exactMatch MONDO:0015541 semapv:UnspecifiedMatching +omim.ps:267750 Knobloch syndrome skos:exactMatch MONDO:0800166 semapv:UnspecifiedMatching +omim.ps:268000 Retinitis pigmentosa skos:exactMatch MONDO:0019200 semapv:UnspecifiedMatching +omim.ps:268310 Robinow syndrome skos:exactMatch MONDO:0019978 semapv:UnspecifiedMatching +omim.ps:268400 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 semapv:UnspecifiedMatching +omim.ps:269500 Sclerosteosis skos:exactMatch MONDO:0017838 semapv:UnspecifiedMatching +omim.ps:270300 Peeling skin syndrome skos:exactMatch MONDO:0019347 semapv:UnspecifiedMatching +omim.ps:271640 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch MONDO:0019675 semapv:UnspecifiedMatching +omim.ps:271930 Striatonigral degeneration skos:exactMatch MONDO:0003122 semapv:UnspecifiedMatching +omim.ps:272430 Cold-induced sweating syndrome skos:exactMatch MONDO:0015526 semapv:UnspecifiedMatching +omim.ps:273395 Tetraamelia syndrome skos:exactMatch MONDO:0010110 semapv:UnspecifiedMatching +omim.ps:273750 Three M syndrome skos:exactMatch MONDO:0007477 semapv:UnspecifiedMatching +omim.ps:273800 Glanzmann thrombasthenia skos:exactMatch MONDO:0100326 semapv:UnspecifiedMatching +omim.ps:275200 Hypothyroidism, congenital, nongoitrous skos:exactMatch MONDO:0000045 semapv:UnspecifiedMatching +omim.ps:275210 Restrictive dermopathy skos:exactMatch MONDO:0031213 semapv:UnspecifiedMatching +omim.ps:276300 Mismatch repair cancer syndrome skos:exactMatch MONDO:0031219 semapv:UnspecifiedMatching +omim.ps:276700 Tyrosinemia skos:exactMatch MONDO:0004741 semapv:UnspecifiedMatching +omim.ps:276900 Usher syndrome skos:exactMatch MONDO:0019501 semapv:UnspecifiedMatching +omim.ps:277180 Vas deferens, congenital bilateral aplasia of skos:exactMatch MONDO:0018801 semapv:UnspecifiedMatching +omim.ps:277300 Spondylocostal dysostosis skos:exactMatch MONDO:0000359 semapv:UnspecifiedMatching +omim.ps:277400 Methylmalonic aciduria and homocystinuria skos:exactMatch MONDO:0016826 semapv:UnspecifiedMatching +omim.ps:277450 Vitamin K-dependent clotting factors, combined deficiency of skos:exactMatch MONDO:0015722 semapv:UnspecifiedMatching +omim.ps:277600 Weill-Marchesani syndrome skos:exactMatch MONDO:0018096 semapv:UnspecifiedMatching +omim.ps:278000 Lysosomal acid lipase deficiency skos:exactMatch MONDO:0800449 semapv:UnspecifiedMatching +omim.ps:278300 Xanthinuria skos:exactMatch MONDO:0018106 semapv:UnspecifiedMatching +omim.ps:300000 skos:exactMatch MONDO:0017138 semapv:UnspecifiedMatching +omim.ps:300009 Dent disease skos:exactMatch MONDO:0015612 semapv:UnspecifiedMatching +omim.ps:300049 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 semapv:UnspecifiedMatching +omim.ps:300291 Ectodermal dysplasia and immune deficiency skos:exactMatch MONDO:0010293 semapv:UnspecifiedMatching +omim.ps:300345 Microphthalmia, isolated, with coloboma skos:exactMatch MONDO:0000170 semapv:UnspecifiedMatching +omim.ps:300352 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 semapv:UnspecifiedMatching +omim.ps:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features skos:exactMatch MONDO:0859390 semapv:UnspecifiedMatching +omim.ps:300633 Hypospadias skos:exactMatch MONDO:0005345 semapv:UnspecifiedMatching +omim.ps:300751 Anemia, Sideroblastic skos:exactMatch MONDO:0020099 semapv:UnspecifiedMatching +omim.ps:300755 Immunodeficiency (select examples) skos:exactMatch MONDO:0021094 semapv:UnspecifiedMatching +omim.ps:300818 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0100244 semapv:UnspecifiedMatching +omim.ps:301050 Alport syndrome skos:exactMatch MONDO:0018965 semapv:UnspecifiedMatching +omim.ps:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch MONDO:0957400 semapv:UnspecifiedMatching +omim.ps:303350 Spastic paraplegia skos:exactMatch MONDO:0019064 semapv:UnspecifiedMatching +omim.ps:304500 Deafness, X-linked skos:exactMatch MONDO:0020768 semapv:UnspecifiedMatching +omim.ps:305100 Ectodermal dysplasia (select examples) skos:exactMatch MONDO:0019287 semapv:UnspecifiedMatching +omim.ps:305450 FG syndrome skos:exactMatch MONDO:0002010 semapv:UnspecifiedMatching +omim.ps:305620 Frontometaphyseal dysplasia skos:exactMatch MONDO:0015942 semapv:UnspecifiedMatching +omim.ps:306400 Granulomatous disease, chronic skos:exactMatch MONDO:0018305 semapv:UnspecifiedMatching +omim.ps:306955 Heterotaxy, visceral skos:exactMatch MONDO:0018677 semapv:UnspecifiedMatching +omim.ps:308205 IFAP syndrome skos:exactMatch MONDO:0100212 semapv:UnspecifiedMatching +omim.ps:308230 Immunodeficiency with hyper-IgM skos:exactMatch MONDO:0003947 semapv:UnspecifiedMatching +omim.ps:308240 Lymphoproliferative syndrome skos:exactMatch MONDO:0016537 semapv:UnspecifiedMatching +omim.ps:308350 Developmental and epileptic encephalopathy skos:exactMatch MONDO:0100062 semapv:UnspecifiedMatching +omim.ps:309510 Intellectual developmental disorder, X-linked syndromic skos:exactMatch MONDO:0020119 semapv:UnspecifiedMatching +omim.ps:309530 Intellectual developmental disorder, nonsyndromic, X-linked skos:exactMatch MONDO:0019181 semapv:UnspecifiedMatching +omim.ps:309800 Microphthalmia, syndromic skos:exactMatch MONDO:0016073 semapv:UnspecifiedMatching +omim.ps:309801 Linear skin defects with multiple congenital anomalies skos:exactMatch MONDO:0010672 semapv:UnspecifiedMatching +omim.ps:310300 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 semapv:UnspecifiedMatching +omim.ps:310500 Night blindness, congenital stationary skos:exactMatch MONDO:0016293 semapv:UnspecifiedMatching +omim.ps:310700 Nystagmus, congenital skos:exactMatch MONDO:0005712 semapv:UnspecifiedMatching +omim.ps:311200 Orofaciodigital syndrome skos:exactMatch MONDO:0015375 semapv:UnspecifiedMatching +omim.ps:311360 Premature ovarian failure skos:exactMatch MONDO:0019852 semapv:UnspecifiedMatching +omim.ps:312080 Leukodystrophy, hypomyelinating skos:exactMatch MONDO:0019046 semapv:UnspecifiedMatching +omim.ps:312170 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 semapv:UnspecifiedMatching +omim.ps:313900 Thrombocytopenia skos:exactMatch MONDO:0100241 semapv:UnspecifiedMatching +omim.ps:314580 Wieacker-Wolff syndrome skos:exactMatch MONDO:0025445 semapv:UnspecifiedMatching +omim.ps:400043 Deafness, Y-linked skos:exactMatch MONDO:0033304 semapv:UnspecifiedMatching +omim.ps:400044 46,XY sex reversal skos:exactMatch MONDO:0010765 semapv:UnspecifiedMatching +omim.ps:600118 Warburg micro syndrome skos:exactMatch MONDO:0016649 semapv:UnspecifiedMatching +omim.ps:600131 Epilepsy, childhood absence skos:exactMatch MONDO:0010826 semapv:UnspecifiedMatching +omim.ps:600165 Nanophthalmos skos:exactMatch MONDO:0005514 semapv:UnspecifiedMatching +omim.ps:600462 Myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch MONDO:0000863 semapv:UnspecifiedMatching +omim.ps:600512 Epilepsy, familial temporal lobe skos:exactMatch MONDO:0005115 semapv:UnspecifiedMatching +omim.ps:600513 Epilepsy, nocturnal frontal lobe skos:exactMatch MONDO:0000030 semapv:UnspecifiedMatching +omim.ps:600630 UV-sensitive syndrome skos:exactMatch MONDO:0015797 semapv:UnspecifiedMatching +omim.ps:600669 Epilepsy, idiopathic generalized skos:exactMatch MONDO:0005579 semapv:UnspecifiedMatching +omim.ps:600721 D-2-hydroxyglutaric aciduria skos:exactMatch MONDO:0010924 semapv:UnspecifiedMatching +omim.ps:600803 Gallbladder disease skos:exactMatch MONDO:0700225 semapv:UnspecifiedMatching +omim.ps:601068 Epilepsy, familial adult myoclonic skos:exactMatch MONDO:0000160 semapv:UnspecifiedMatching +omim.ps:601104 Supranuclear palsy, progressive skos:exactMatch MONDO:0019037 semapv:UnspecifiedMatching +omim.ps:601144 Brugada syndrome skos:exactMatch MONDO:0015263 semapv:UnspecifiedMatching +omim.ps:601198 Hypocalcemia skos:exactMatch MONDO:0018543 semapv:UnspecifiedMatching +omim.ps:601228 Polyposis syndrome, hereditary mixed skos:exactMatch MONDO:0011023 semapv:UnspecifiedMatching +omim.ps:601390 Van Maldergem syndrome skos:exactMatch MONDO:0017813 semapv:UnspecifiedMatching +omim.ps:601419 Myopathy, myofibrillar skos:exactMatch MONDO:0018943 semapv:UnspecifiedMatching +omim.ps:601457 Severe combined immunodeficiency (select examples) skos:exactMatch MONDO:0031520 semapv:UnspecifiedMatching +omim.ps:601462 Myasthenic syndrome, congenital skos:exactMatch MONDO:0018940 semapv:UnspecifiedMatching +omim.ps:601471 Facial paresis, hereditary congenital skos:exactMatch MONDO:0011090 semapv:UnspecifiedMatching +omim.ps:601495 Agammaglobulinemia skos:exactMatch MONDO:0015977 semapv:UnspecifiedMatching +omim.ps:601559 Stuve-Wiedemann syndrome skos:exactMatch MONDO:0031280 semapv:UnspecifiedMatching +omim.ps:601675 Trichothiodystrophy skos:exactMatch MONDO:0018053 semapv:UnspecifiedMatching +omim.ps:601678 Bartter syndrome skos:exactMatch MONDO:0015231 semapv:UnspecifiedMatching +omim.ps:601764 Seizures, benign familial infantile skos:exactMatch MONDO:0017615 semapv:UnspecifiedMatching +omim.ps:602014 Hypomagnesemia skos:exactMatch MONDO:0018100 semapv:UnspecifiedMatching +omim.ps:602483 Auriculocondylar syndrome skos:exactMatch MONDO:0000107 semapv:UnspecifiedMatching +omim.ps:602875 Acromesomelic dysplasia skos:exactMatch MONDO:0019696 semapv:UnspecifiedMatching +omim.ps:603041 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 semapv:UnspecifiedMatching +omim.ps:603075 Macular degeneration, age-related skos:exactMatch MONDO:0005150 semapv:UnspecifiedMatching +omim.ps:603165 Dermatitis, atopic skos:exactMatch MONDO:0004980 semapv:UnspecifiedMatching +omim.ps:603278 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 semapv:UnspecifiedMatching +omim.ps:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome skos:exactMatch MONDO:0019375 semapv:UnspecifiedMatching +omim.ps:603511 Muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch MONDO:0015151 semapv:UnspecifiedMatching +omim.ps:603896 Leukoencephalopathy with vanishing white matter skos:exactMatch MONDO:0800448 semapv:UnspecifiedMatching +omim.ps:603933 Microvascular complications of diabetes skos:exactMatch MONDO:0000065 semapv:UnspecifiedMatching +omim.ps:604004 Leukoencephalopathy, megalencephalic skos:exactMatch MONDO:0000137 semapv:UnspecifiedMatching +omim.ps:604169 Left ventricular noncompaction skos:exactMatch MONDO:0018901 semapv:UnspecifiedMatching +omim.ps:604233 Epilepsy, generalized, with febrile seizures plus skos:exactMatch MONDO:0018214 semapv:UnspecifiedMatching +omim.ps:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type skos:exactMatch MONDO:0014471 semapv:UnspecifiedMatching +omim.ps:604320 Neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch MONDO:0015363 semapv:UnspecifiedMatching +omim.ps:604348 Advanced sleep phase syndrome skos:exactMatch MONDO:0015609 semapv:UnspecifiedMatching +omim.ps:604364 Epilepsy, familial focal, with variable foci skos:exactMatch MONDO:0020310 semapv:UnspecifiedMatching +omim.ps:604370 Breast-ovarian cancer, familial, susceptibility to skos:exactMatch MONDO:0100526 semapv:UnspecifiedMatching +omim.ps:604391 Ataxia-telangiectasia-like disorder skos:exactMatch MONDO:0011457 semapv:UnspecifiedMatching +omim.ps:604498 Amegakaryocytic thrombocytopenia, congenital skos:exactMatch MONDO:0800451 semapv:UnspecifiedMatching +omim.ps:604772 Ventricular tachycardia, catecholaminergic polymorphic skos:exactMatch MONDO:0017990 semapv:UnspecifiedMatching +omim.ps:604931 Cortisone reductase deficiency skos:exactMatch MONDO:0000193 semapv:UnspecifiedMatching +omim.ps:605253 Neuropathy, congenital hypomelinating skos:exactMatch MONDO:0033352 semapv:UnspecifiedMatching +omim.ps:605389 Hypotrichosis skos:exactMatch MONDO:0003037 semapv:UnspecifiedMatching +omim.ps:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011555 semapv:UnspecifiedMatching +omim.ps:605552 Abdominal obesity-metabolic syndrome skos:exactMatch MONDO:0000816 semapv:UnspecifiedMatching +omim.ps:605711 Multiple mitochondrial dysfunctions syndrome skos:exactMatch MONDO:0017338 semapv:UnspecifiedMatching +omim.ps:605899 Glycine encephalopathy skos:exactMatch MONDO:0011612 semapv:UnspecifiedMatching +omim.ps:606176 Diabetes mellitus, permanent neonatal skos:exactMatch MONDO:0100164 semapv:UnspecifiedMatching +omim.ps:606215 Atrioventricular septal defect skos:exactMatch MONDO:0020290 semapv:UnspecifiedMatching +omim.ps:606703 Dyskinesia with orofacial involvement skos:exactMatch MONDO:0031115 semapv:UnspecifiedMatching +omim.ps:606711 Specific language impairment skos:exactMatch MONDO:0000724 semapv:UnspecifiedMatching +omim.ps:606777 Glut1 deficiency syndrome skos:exactMatch MONDO:0000188 semapv:UnspecifiedMatching +omim.ps:607014 Mucopolysaccharidoses skos:exactMatch MONDO:0019249 semapv:UnspecifiedMatching +omim.ps:607086 Aortic aneurysm, familial thoracic skos:exactMatch MONDO:0019625 semapv:UnspecifiedMatching +omim.ps:607095 Anauxetic dysplasia skos:exactMatch MONDO:0011773 semapv:UnspecifiedMatching +omim.ps:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch MONDO:0020771 semapv:UnspecifiedMatching +omim.ps:607313 Gaze palsy, familial horizontal, with progressive scoliosis skos:exactMatch MONDO:0011810 semapv:UnspecifiedMatching +omim.ps:607326 Smith-McCort dysplasia skos:exactMatch MONDO:0015799 semapv:UnspecifiedMatching +omim.ps:607411 Patent ductus arteriosus skos:exactMatch MONDO:0011827 semapv:UnspecifiedMatching +omim.ps:607426 Coenzyme Q10 deficiency, primary skos:exactMatch MONDO:0018151 semapv:UnspecifiedMatching +omim.ps:607432 Lissencephaly skos:exactMatch MONDO:0018838 semapv:UnspecifiedMatching +omim.ps:607594 Immunodeficiency, common variable skos:exactMatch MONDO:0015517 semapv:UnspecifiedMatching +omim.ps:607596 Pontocerebellar hypoplasia skos:exactMatch MONDO:0020135 semapv:UnspecifiedMatching +omim.ps:607602 Ichthyosis, annular epidermolytic skos:exactMatch MONDO:0011870 semapv:UnspecifiedMatching +omim.ps:607631 Epilepsy, juvenile absence skos:exactMatch MONDO:0011876 semapv:UnspecifiedMatching +omim.ps:607634 Osteopetrosis, autosomal dominant skos:exactMatch MONDO:0020645 semapv:UnspecifiedMatching +omim.ps:607721 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch MONDO:0011899 semapv:UnspecifiedMatching +omim.ps:607748 Hypercholanemia, familial skos:exactMatch MONDO:0100327 semapv:UnspecifiedMatching +omim.ps:607765 Bile acid synthesis defect, congenital skos:exactMatch MONDO:0018841 semapv:UnspecifiedMatching +omim.ps:608207 Kala-azar, susceptibility to skos:exactMatch MONDO:0005445 semapv:UnspecifiedMatching +omim.ps:608354 Capillary malformation-arteriovenous malformation skos:exactMatch MONDO:0012016 semapv:UnspecifiedMatching +omim.ps:608415 Prolonged electroretinal response suppression skos:exactMatch MONDO:0012033 semapv:UnspecifiedMatching +omim.ps:608567 Sick sinus syndrome skos:exactMatch MONDO:0012061 semapv:UnspecifiedMatching +omim.ps:608583 Atrial fibrillation, familial skos:exactMatch MONDO:0018054 semapv:UnspecifiedMatching +omim.ps:608594 Lipodystrophy, congenital generalized skos:exactMatch MONDO:0006536 semapv:UnspecifiedMatching +omim.ps:608638 Asperger syndrome, susceptibility to skos:exactMatch MONDO:0100440 semapv:UnspecifiedMatching +omim.ps:608805 Avascular necrosis of femoral head, primary skos:exactMatch MONDO:0012126 semapv:UnspecifiedMatching +omim.ps:609015 Mitochondrial trifunctional protein deficiency skos:exactMatch MONDO:0012172 semapv:UnspecifiedMatching +omim.ps:609060 Combined oxidative phosphorylation deficiency skos:exactMatch MONDO:0000732 semapv:UnspecifiedMatching +omim.ps:609129 Auditory neuropathy skos:exactMatch MONDO:0021944 semapv:UnspecifiedMatching +omim.ps:609161 Striatal degeneration, autosomal dominant skos:exactMatch MONDO:0000211 semapv:UnspecifiedMatching +omim.ps:609192 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 semapv:UnspecifiedMatching +omim.ps:609308 Muscular dystrophy-dystroglycanopathy, type C skos:exactMatch MONDO:0000173 semapv:UnspecifiedMatching +omim.ps:609322 Rhabdoid tumor predisposition syndrome skos:exactMatch MONDO:0016473 semapv:UnspecifiedMatching +omim.ps:609620 Short QT syndrome skos:exactMatch MONDO:0000453 semapv:UnspecifiedMatching +omim.ps:609628 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 semapv:UnspecifiedMatching +omim.ps:609698 Thyroid hormone metabolism, abnormal skos:exactMatch MONDO:0031432 semapv:UnspecifiedMatching +omim.ps:610253 Kleefstra syndrome skos:exactMatch MONDO:0012455 semapv:UnspecifiedMatching +omim.ps:610448 Chilblain lupus skos:exactMatch MONDO:0018827 semapv:UnspecifiedMatching +omim.ps:610460 Thiopurines, poor metabolism of skos:exactMatch MONDO:0000210 semapv:UnspecifiedMatching +omim.ps:610489 Pigmented nodular adrenocortical disease, primary skos:exactMatch MONDO:0015999 semapv:UnspecifiedMatching +omim.ps:610542 Myasthenic syndrome, congenital, with tubular aggregates skos:exactMatch MONDO:0000182 semapv:UnspecifiedMatching +omim.ps:610551 Encephalopathy/encephalitis, acute, infection-induced skos:exactMatch MONDO:0000166 semapv:UnspecifiedMatching +omim.ps:610799 skos:exactMatch MONDO:0000049 semapv:UnspecifiedMatching +omim.ps:610805 Congenital anomalies of kidney and urinary tract skos:exactMatch MONDO:0019719 semapv:UnspecifiedMatching +omim.ps:612199 Cerebroretinal microangiopathy with calcfications and cysts skos:exactMatch MONDO:0012815 semapv:UnspecifiedMatching +omim.ps:612286 Nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch MONDO:0000079 semapv:UnspecifiedMatching +omim.ps:612900 Spastic quadriplegic cerebral palsy skos:exactMatch MONDO:0016215 semapv:UnspecifiedMatching +omim.ps:612975 Short sleep, familial natural skos:exactMatch MONDO:0044278 semapv:UnspecifiedMatching +omim.ps:613038 Pituitary hormone deficiency, combined skos:exactMatch MONDO:0013099 semapv:UnspecifiedMatching +omim.ps:613112 Macrothrombocytopenia, isolated skos:exactMatch MONDO:0031447 semapv:UnspecifiedMatching +omim.ps:613135 Parkinsonism-dystonia, infantile skos:exactMatch MONDO:0013150 semapv:UnspecifiedMatching +omim.ps:613155 Muscular dystrophy-dystroglycanopathy, type B skos:exactMatch MONDO:0000172 semapv:UnspecifiedMatching +omim.ps:613280 Hypermanganesemia with dystonia skos:exactMatch MONDO:0000214 semapv:UnspecifiedMatching +omim.ps:613339 Hot water epilepsy skos:exactMatch MONDO:0013229 semapv:UnspecifiedMatching +omim.ps:613573 Ectodermal dysplasia-syndactyly syndrome skos:exactMatch MONDO:0013311 semapv:UnspecifiedMatching +omim.ps:613652 C1q deficiency skos:exactMatch MONDO:0013343 semapv:UnspecifiedMatching +omim.ps:613658 Rajab interstitial lung disease with brain calcifications skos:exactMatch MONDO:0100214 semapv:UnspecifiedMatching +omim.ps:614039 Cortical dysplasia, complex, with other brain malformations skos:exactMatch MONDO:0000904 semapv:UnspecifiedMatching +omim.ps:614080 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch MONDO:0100247 semapv:UnspecifiedMatching +omim.ps:614231 Microcephaly, epilepsy, and diabetes syndrome skos:exactMatch MONDO:0100328 semapv:UnspecifiedMatching +omim.ps:614328 Neonatal inflammatory skin and bowel disease skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching +omim.ps:614372 Lectin complement activation pathway defects skos:exactMatch MONDO:0044209 semapv:UnspecifiedMatching +omim.ps:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission skos:exactMatch MONDO:0054865 semapv:UnspecifiedMatching +omim.ps:614429 Ventricular septal defect skos:exactMatch MONDO:0002070 semapv:UnspecifiedMatching +omim.ps:614592 Bent bone dysplasia syndrome skos:exactMatch MONDO:0031615 semapv:UnspecifiedMatching +omim.ps:614594 Olmsted syndrome skos:exactMatch MONDO:0031421 semapv:UnspecifiedMatching +omim.ps:614675 Bone marrow failure syndrome skos:exactMatch MONDO:0000159 semapv:UnspecifiedMatching +omim.ps:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related skos:exactMatch MONDO:0000148 semapv:UnspecifiedMatching +omim.ps:614937 Myoclonus, familial skos:exactMatch MONDO:0013981 semapv:UnspecifiedMatching +omim.ps:615040 Familial episodic pain syndrome skos:exactMatch MONDO:0018319 semapv:UnspecifiedMatching +omim.ps:615273 Congenital disorder of deglycosylation skos:exactMatch MONDO:0031376 semapv:UnspecifiedMatching +omim.ps:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch MONDO:0014176 semapv:UnspecifiedMatching +omim.ps:615438 Infantile liver failure syndrome skos:exactMatch MONDO:0000023 semapv:UnspecifiedMatching +omim.ps:615774 Oocyte/zygote/embryo maturation arrest skos:exactMatch MONDO:0014769 semapv:UnspecifiedMatching +omim.ps:615895 Polyglucosan body myopathy skos:exactMatch MONDO:0000192 semapv:UnspecifiedMatching +omim.ps:615952 Autoimmune disease, multisystem, infantile-onset skos:exactMatch MONDO:0000213 semapv:UnspecifiedMatching +omim.ps:616033 Microcephaly, short stature, and impaired glucose metabolism skos:exactMatch MONDO:0800450 semapv:UnspecifiedMatching +omim.ps:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset skos:exactMatch MONDO:0024189 semapv:UnspecifiedMatching +omim.ps:616355 Houge-Janssens syndrome skos:exactMatch MONDO:0957553 semapv:UnspecifiedMatching +omim.ps:616418 Hypomagnesemia, seizures, and mental retardation skos:exactMatch MONDO:0014631 semapv:UnspecifiedMatching +omim.ps:616744 Autoinflammatory syndrome, familial, Behcet-like skos:exactMatch MONDO:0031384 semapv:UnspecifiedMatching +omim.ps:616814 skos:exactMatch MONDO:0000218 semapv:UnspecifiedMatching +omim.ps:616866 Spinal muscular atrophy with congenital bone fractures skos:exactMatch MONDO:0000209 semapv:UnspecifiedMatching +omim.ps:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch MONDO:0031632 semapv:UnspecifiedMatching +omim.ps:617068 Portal hypertension, noncirrhotic skos:exactMatch MONDO:0024193 semapv:UnspecifiedMatching +omim.ps:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch MONDO:0014960 semapv:UnspecifiedMatching +omim.ps:617236 Cone-rod dystrophy and hearing loss skos:exactMatch MONDO:0014980 semapv:UnspecifiedMatching +omim.ps:617290 Epilepsy, early-onset skos:exactMatch MONDO:0957599 semapv:UnspecifiedMatching +omim.ps:617468 Arthrogryposis multiplex congenita skos:exactMatch MONDO:0015168 semapv:UnspecifiedMatching +omim.ps:617660 Vertebral, cardiac, renal, and limb defects syndrome skos:exactMatch MONDO:0020831 semapv:UnspecifiedMatching +omim.ps:617711 skos:exactMatch MONDO:0020627 semapv:UnspecifiedMatching +omim.ps:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch MONDO:0031439 semapv:UnspecifiedMatching +omim.ps:618005 Congenital disorder of glycosylation with defective fucosylation skos:exactMatch MONDO:0060720 semapv:UnspecifiedMatching +omim.ps:618332 Menke-Hennekam syndrome skos:exactMatch MONDO:0020774 semapv:UnspecifiedMatching +omim.ps:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome skos:exactMatch MONDO:0016470 semapv:UnspecifiedMatching +omim.ps:619142 Cardioacrofacial dysplasia skos:exactMatch MONDO:0031386 semapv:UnspecifiedMatching +omim.ps:619382 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch MONDO:0030309 semapv:UnspecifiedMatching +omim.ps:619611 Interstitial lung disease skos:exactMatch MONDO:0031199 semapv:UnspecifiedMatching +omim.ps:619720 Bryant-Li-Bhoj neurodevelopmental syndrome skos:exactMatch MONDO:0031200 semapv:UnspecifiedMatching +omim.ps:619758 Tessadori-Van-Haaften neurodevelopmental syndrome skos:exactMatch MONDO:0031400 semapv:UnspecifiedMatching +omim.ps:619980 Braddock-Carey Syndrome skos:exactMatch MONDO:0031646 semapv:UnspecifiedMatching +omim.ps:620184 Atelis syndrome skos:exactMatch MONDO:0859393 semapv:UnspecifiedMatching diff --git a/src/mappings/ordo.sssom.tsv b/src/mappings/ordo.sssom.tsv index f199bacf..a69d3c22 100644 --- a/src/mappings/ordo.sssom.tsv +++ b/src/mappings/ordo.sssom.tsv @@ -36,21 +36,29 @@ Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208910 semapv:Unspeci Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref UMLS:C0004135 semapv:UnspecifiedMatching Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref MESH:C537043 semapv:UnspecifiedMatching Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref OMIM:300650 semapv:UnspecifiedMatching Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref UMLS:C1845069 semapv:UnspecifiedMatching +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref UMLS:C5681810 semapv:UnspecifiedMatching +Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref icd11:2F3Y semapv:UnspecifiedMatching Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref UMLS:C5681811 semapv:UnspecifiedMatching +Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref icd11:2F3Y semapv:UnspecifiedMatching Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref UMLS:C4708595 semapv:UnspecifiedMatching +Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref icd11:2F3Y semapv:UnspecifiedMatching Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref UMLS:C1370658 semapv:UnspecifiedMatching +Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref icd11:2F3Y semapv:UnspecifiedMatching +Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref icd11:XH4BQ8 semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching @@ -58,6 +66,7 @@ Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref OMIM:605714 sem Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref UMLS:C2931672 semapv:UnspecifiedMatching Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching @@ -66,21 +75,27 @@ Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:Unspecif Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref UMLS:C5191423 semapv:UnspecifiedMatching +Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref UMLS:C4274993 semapv:UnspecifiedMatching +Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref UMLS:C4274992 semapv:UnspecifiedMatching +Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref UMLS:C4274991 semapv:UnspecifiedMatching +Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref UMLS:C5191422 semapv:UnspecifiedMatching +Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref UMLS:C4274989 semapv:UnspecifiedMatching +Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref UMLS:C1318550 semapv:UnspecifiedMatching @@ -96,13 +111,17 @@ Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10 Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref icd11:2A83.2 semapv:UnspecifiedMatching Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching +Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref UMLS:C0242310 semapv:UnspecifiedMatching Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref icd11:2A84.2 semapv:UnspecifiedMatching Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref icd11:XH2JK2 semapv:UnspecifiedMatching Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching +Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref MESH:D007161 semapv:UnspecifiedMatching Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref UMLS:C0021071 semapv:UnspecifiedMatching Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref icd11:2A84.0 semapv:UnspecifiedMatching +Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref icd11:XH1Y65 semapv:UnspecifiedMatching +Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref UMLS:C0018854 semapv:UnspecifiedMatching Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref icd11:2A84.1 semapv:UnspecifiedMatching @@ -117,6 +136,7 @@ Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:6162 Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617297 semapv:UnspecifiedMatching Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399367 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref MESH:C562880 semapv:UnspecifiedMatching @@ -124,6 +144,7 @@ Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:13 Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617607 semapv:UnspecifiedMatching Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399376 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref MESH:C536606 semapv:UnspecifiedMatching @@ -135,32 +156,39 @@ Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:6 Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399372 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref UMLS:C5680382 semapv:UnspecifiedMatching +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref UMLS:C2960192 semapv:UnspecifiedMatching +Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref icd11:DB99.Y semapv:UnspecifiedMatching Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref OMIM:177720 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref MESH:C564702 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:606483 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C1847896 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref MESH:C564703 semapv:UnspecifiedMatching Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref UMLS:C1847902 semapv:UnspecifiedMatching Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref MESH:C564257 semapv:UnspecifiedMatching Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:608323 semapv:UnspecifiedMatching Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref UMLS:C1842237 semapv:UnspecifiedMatching Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref MESH:C564333 semapv:UnspecifiedMatching Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:607791 semapv:UnspecifiedMatching Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref UMLS:C1843075 semapv:UnspecifiedMatching @@ -168,39 +196,53 @@ Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref UMLS:C4303524 semapv:UnspecifiedMatching +Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref icd11:LB12.Y semapv:UnspecifiedMatching Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref UMLS:C4274729 semapv:UnspecifiedMatching +Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref icd11:LB12.Y semapv:UnspecifiedMatching Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies oboInOwl:hasDbXref UMLS:C5680383 semapv:UnspecifiedMatching Orphanet:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching +Orphanet:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching +Orphanet:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching +Orphanet:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref MESH:D056828 semapv:UnspecifiedMatching Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching +Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref UMLS:C5680381 semapv:UnspecifiedMatching +Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref icd11:4A00.15 semapv:UnspecifiedMatching Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref UMLS:C5680380 semapv:UnspecifiedMatching +Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref icd11:4A00.15 semapv:UnspecifiedMatching Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref OMIM:300909 semapv:UnspecifiedMatching Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref UMLS:C1268945 semapv:UnspecifiedMatching Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref icd11:EH61.1 semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:A39.1+ semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:A39.1+ semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MESH:D014884 semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MedDRA:10047847 semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref UMLS:C0043068 semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref icd11:1C1C.1 semapv:UnspecifiedMatching +Orphanet:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:100069 Semantic dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching Orphanet:100069 Semantic dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching Orphanet:100069 Semantic dementia oboInOwl:hasDbXref UMLS:C0338462 semapv:UnspecifiedMatching +Orphanet:100069 Semantic dementia oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MESH:D057178 semapv:UnspecifiedMatching Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MedDRA:10029542 semapv:UnspecifiedMatching @@ -208,13 +250,16 @@ Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:172700 se Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref UMLS:C0751706 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref UMLS:C4707012 semapv:UnspecifiedMatching Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0751549 semapv:UnspecifiedMatching Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref icd11:8B91.Y semapv:UnspecifiedMatching Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref UMLS:C1333783 semapv:UnspecifiedMatching Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref icd11:2B72.1 semapv:UnspecifiedMatching Orphanet:100076 Duodenal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C4525619 semapv:UnspecifiedMatching @@ -228,22 +273,31 @@ Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:D37 Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref UMLS:C1879718 semapv:UnspecifiedMatching Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref icd11:2B81.2 semapv:UnspecifiedMatching Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching +Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref UMLS:C1333097 semapv:UnspecifiedMatching +Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref MedDRA:10085767 semapv:UnspecifiedMatching Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref UMLS:C5554035 semapv:UnspecifiedMatching Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref icd11:2B92.1 semapv:UnspecifiedMatching Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching +Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref UMLS:C3272849 semapv:UnspecifiedMatching +Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref icd11:2C00.2 semapv:UnspecifiedMatching +Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C32.1 semapv:UnspecifiedMatching Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C32.1 semapv:UnspecifiedMatching Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5681809 semapv:UnspecifiedMatching +Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref icd11:2F00.2 semapv:UnspecifiedMatching +Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref ICD10:C30.1 semapv:UnspecifiedMatching Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref ICD10:C30.1 semapv:UnspecifiedMatching Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref UMLS:C4305468 semapv:UnspecifiedMatching +Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref icd11:2F00.0 semapv:UnspecifiedMatching Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C3273031 semapv:UnspecifiedMatching Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref UMLS:C3273115 semapv:UnspecifiedMatching Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref icd11:2C13.Y semapv:UnspecifiedMatching Orphanet:100087 Rare thyroid tumor oboInOwl:hasDbXref UMLS:C0040136 semapv:UnspecifiedMatching @@ -251,6 +305,7 @@ Orphanet:100088 Rare thyroid carcinoma oboInOwl:hasDbXref UMLS:C0549473 semapv:U Orphanet:100090 Rare parathyroid tumor oboInOwl:hasDbXref UMLS:C5681807 semapv:UnspecifiedMatching Orphanet:100091 Adrenal/paraganglial tumor oboInOwl:hasDbXref UMLS:C5681806 semapv:UnspecifiedMatching Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref ICD10:E34.0 semapv:UnspecifiedMatching +Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref ICD10:E34.0 semapv:UnspecifiedMatching Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref MESH:D008303 semapv:UnspecifiedMatching Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref MedDRA:10007270 semapv:UnspecifiedMatching Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref UMLS:C0024586 semapv:UnspecifiedMatching @@ -261,10 +316,13 @@ Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv: Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv:UnspecifiedMatching Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931817 semapv:UnspecifiedMatching +Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching Orphanet:100100 Thymic tumor oboInOwl:hasDbXref MESH:D013953 semapv:UnspecifiedMatching Orphanet:100100 Thymic tumor oboInOwl:hasDbXref UMLS:C3714644 semapv:UnspecifiedMatching Orphanet:100101 Neuroendocrine tumor with other location oboInOwl:hasDbXref UMLS:C5681808 semapv:UnspecifiedMatching Orphanet:1002 NON RARE IN EUROPE: Cluster headache oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching +Orphanet:1002 NON RARE IN EUROPE: Cluster headache oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching +Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref MESH:C536622 semapv:UnspecifiedMatching Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:181250 semapv:UnspecifiedMatching @@ -276,6 +334,7 @@ Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome ob Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4303742 semapv:UnspecifiedMatching Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref UMLS:C5190867 semapv:UnspecifiedMatching Orphanet:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching Orphanet:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching @@ -284,20 +343,28 @@ Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInO Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537057 semapv:UnspecifiedMatching Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref OMIM:104130 semapv:UnspecifiedMatching Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1863090 semapv:UnspecifiedMatching +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching +Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching +Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref OMIM:309548 semapv:UnspecifiedMatching Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref UMLS:C4274328 semapv:UnspecifiedMatching +Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:100974 FRAXF syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching Orphanet:100974 FRAXF syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching Orphanet:100974 FRAXF syndrome oboInOwl:hasDbXref UMLS:C4274329 semapv:UnspecifiedMatching Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref UMLS:C4511230 semapv:UnspecifiedMatching +Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching +Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref UMLS:C5190852 semapv:UnspecifiedMatching +Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:100979 Autosomal dominant complex spastic paraplegia oboInOwl:hasDbXref UMLS:C5680379 semapv:UnspecifiedMatching Orphanet:100980 Autosomal dominant pure spastic paraplegia oboInOwl:hasDbXref UMLS:C5680378 semapv:UnspecifiedMatching Orphanet:100981 Autosomal recessive complex spastic paraplegia oboInOwl:hasDbXref UMLS:C5680377 semapv:UnspecifiedMatching @@ -307,70 +374,85 @@ Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref MESH:C536864 semapv:UnspecifiedMatching Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref OMIM:182600 semapv:UnspecifiedMatching Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref UMLS:C2931355 semapv:UnspecifiedMatching +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref MESH:C536865 semapv:UnspecifiedMatching Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref OMIM:182601 semapv:UnspecifiedMatching Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref UMLS:C1866855 semapv:UnspecifiedMatching +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref MESH:C564811 semapv:UnspecifiedMatching Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref OMIM:270800 semapv:UnspecifiedMatching Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref UMLS:C1849115 semapv:UnspecifiedMatching +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref MESH:C536866 semapv:UnspecifiedMatching Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref OMIM:600363 semapv:UnspecifiedMatching Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref UMLS:C1838192 semapv:UnspecifiedMatching +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref OMIM:603563 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref UMLS:C1863704 semapv:UnspecifiedMatching +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref MESH:C537482 semapv:UnspecifiedMatching Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref OMIM:604187 semapv:UnspecifiedMatching Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref UMLS:C1858712 semapv:UnspecifiedMatching +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref MESH:C537484 semapv:UnspecifiedMatching Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref OMIM:604805 semapv:UnspecifiedMatching Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref UMLS:C1858106 semapv:UnspecifiedMatching +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref MESH:C537485 semapv:UnspecifiedMatching Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref OMIM:605280 semapv:UnspecifiedMatching Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref UMLS:C1854467 semapv:UnspecifiedMatching +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref MESH:C537486 semapv:UnspecifiedMatching Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref OMIM:605229 semapv:UnspecifiedMatching Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref UMLS:C1854568 semapv:UnspecifiedMatching +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref MESH:C536642 semapv:UnspecifiedMatching Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref OMIM:270700 semapv:UnspecifiedMatching Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref UMLS:C1849128 semapv:UnspecifiedMatching +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref MESH:C536643 semapv:UnspecifiedMatching Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref OMIM:300266 semapv:UnspecifiedMatching Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref UMLS:C1846046 semapv:UnspecifiedMatching +Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref icd11:8B44.02 semapv:UnspecifiedMatching Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref MESH:C536644 semapv:UnspecifiedMatching Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref OMIM:270685 semapv:UnspecifiedMatching Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref UMLS:C2931276 semapv:UnspecifiedMatching +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref MESH:C536856 semapv:UnspecifiedMatching Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref OMIM:607152 semapv:UnspecifiedMatching Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref UMLS:C1846685 semapv:UnspecifiedMatching +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref MedDRA:10075298 semapv:UnspecifiedMatching Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref OMIM:125370 semapv:UnspecifiedMatching Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref UMLS:C0751781 semapv:UnspecifiedMatching +Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref icd11:8A01.12 semapv:UnspecifiedMatching +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:104100 semapv:UnspecifiedMatching Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C4304669 semapv:UnspecifiedMatching @@ -380,46 +462,55 @@ Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXre Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref MESH:C536858 semapv:UnspecifiedMatching Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref OMIM:275900 semapv:UnspecifiedMatching Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref UMLS:C0393559 semapv:UnspecifiedMatching +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref MESH:C565409 semapv:UnspecifiedMatching Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref OMIM:248900 semapv:UnspecifiedMatching Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref UMLS:C1855346 semapv:UnspecifiedMatching +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref MESH:C536859 semapv:UnspecifiedMatching Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref OMIM:270750 semapv:UnspecifiedMatching Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref UMLS:C0796019 semapv:UnspecifiedMatching +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref MESH:C564375 semapv:UnspecifiedMatching Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref OMIM:607584 semapv:UnspecifiedMatching Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref UMLS:C1843569 semapv:UnspecifiedMatching +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref MESH:C536861 semapv:UnspecifiedMatching Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref OMIM:608220 semapv:UnspecifiedMatching Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref UMLS:C2936860 semapv:UnspecifiedMatching +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref MESH:C536862 semapv:UnspecifiedMatching Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref OMIM:609195 semapv:UnspecifiedMatching Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref UMLS:C1836632 semapv:UnspecifiedMatching +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref MESH:C563807 semapv:UnspecifiedMatching Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref OMIM:609041 semapv:UnspecifiedMatching Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref UMLS:C1836899 semapv:UnspecifiedMatching +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref MESH:C563732 semapv:UnspecifiedMatching Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref OMIM:609340 semapv:UnspecifiedMatching Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref UMLS:C1836295 semapv:UnspecifiedMatching +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref MESH:C536863 semapv:UnspecifiedMatching Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref OMIM:609727 semapv:UnspecifiedMatching Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref UMLS:C1857855 semapv:UnspecifiedMatching +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref OMIM:610357 semapv:UnspecifiedMatching @@ -430,6 +521,8 @@ Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref MESH:C565210 semapv:UnspecifiedMatching Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref OMIM:610250 semapv:UnspecifiedMatching Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref UMLS:C1853247 semapv:UnspecifiedMatching +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref MESH:D029597 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref MedDRA:10039211 semapv:UnspecifiedMatching @@ -447,12 +540,15 @@ Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613695 semapv:Unspe Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref UMLS:C4551647 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref UMLS:C0272281 semapv:UnspecifiedMatching Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref ICD10:Q35.1 semapv:UnspecifiedMatching +Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref ICD10:Q35.1 semapv:UnspecifiedMatching Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref UMLS:C0432090 semapv:UnspecifiedMatching +Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref icd11:LA42.0 semapv:UnspecifiedMatching Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref MESH:C563207 semapv:UnspecifiedMatching @@ -462,22 +558,28 @@ Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref icd11:5C51.0 semapv: Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref UMLS:C5681805 semapv:UnspecifiedMatching +Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref icd11:LA05.5Y semapv:UnspecifiedMatching Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref MedDRA:10071150 semapv:UnspecifiedMatching Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref UMLS:C3160906 semapv:UnspecifiedMatching +Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref icd11:LA05.5Y semapv:UnspecifiedMatching Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref MESH:C564715 semapv:UnspecifiedMatching Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref UMLS:C1848137 semapv:UnspecifiedMatching +Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref icd11:8A61.1Y semapv:UnspecifiedMatching Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref UMLS:C5681803 semapv:UnspecifiedMatching +Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref icd11:3B14.0 semapv:UnspecifiedMatching +Orphanet:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching Orphanet:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching Orphanet:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref UMLS:C5397239 semapv:UnspecifiedMatching Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref MESH:C537297 semapv:UnspecifiedMatching Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:600512 semapv:UnspecifiedMatching Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616436 semapv:UnspecifiedMatching @@ -485,19 +587,23 @@ Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasD Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref UMLS:C1838062 semapv:UnspecifiedMatching Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref icd11:8A61.3Y semapv:UnspecifiedMatching Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref MESH:C537146 semapv:UnspecifiedMatching Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref UMLS:C1840347 semapv:UnspecifiedMatching Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref MESH:C537147 semapv:UnspecifiedMatching Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref UMLS:C1833372 semapv:UnspecifiedMatching Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching +Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref UMLS:C0037221 semapv:UnspecifiedMatching Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref icd11:LA82 semapv:UnspecifiedMatching Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref MESH:C566452 semapv:UnspecifiedMatching Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref OMIM:610048 semapv:UnspecifiedMatching Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref UMLS:C1864738 semapv:UnspecifiedMatching @@ -513,66 +619,90 @@ Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref ICD10:Q Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref UMLS:C5681804 semapv:UnspecifiedMatching Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref MESH:C535919 semapv:UnspecifiedMatching Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0393808 semapv:UnspecifiedMatching Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref MESH:C535302 semapv:UnspecifiedMatching Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:302801 semapv:UnspecifiedMatching Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C1844873 semapv:UnspecifiedMatching +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref MESH:C535303 semapv:UnspecifiedMatching Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref OMIM:302802 semapv:UnspecifiedMatching Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref UMLS:C1844865 semapv:UnspecifiedMatching +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref MESH:C536450 semapv:UnspecifiedMatching Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:310490 semapv:UnspecifiedMatching Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C0795910 semapv:UnspecifiedMatching +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref OMIM:118220 semapv:UnspecifiedMatching Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref UMLS:C0270911 semapv:UnspecifiedMatching +Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref icd11:LD41.G1 semapv:UnspecifiedMatching +Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 semapv:UnspecifiedMatching Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref UMLS:C0270912 semapv:UnspecifiedMatching Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MESH:C537984 semapv:UnspecifiedMatching Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 semapv:UnspecifiedMatching Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref UMLS:C0270913 semapv:UnspecifiedMatching Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MESH:C537985 semapv:UnspecifiedMatching Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 semapv:UnspecifiedMatching Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref UMLS:C1843247 semapv:UnspecifiedMatching Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref MESH:C537987 semapv:UnspecifiedMatching Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref UMLS:C1843164 semapv:UnspecifiedMatching Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref MESH:D053307 semapv:UnspecifiedMatching Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref UMLS:C0398689 semapv:UnspecifiedMatching +Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref UMLS:C1720956 semapv:UnspecifiedMatching +Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref icd11:4A01.05 semapv:UnspecifiedMatching +Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref UMLS:C1720957 semapv:UnspecifiedMatching +Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref MESH:C564277 semapv:UnspecifiedMatching Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref UMLS:C1842413 semapv:UnspecifiedMatching +Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref UMLS:C1720958 semapv:UnspecifiedMatching +Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref icd11:4A01.05 semapv:UnspecifiedMatching Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref MedDRA:10054329 semapv:UnspecifiedMatching Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref UMLS:C0553669 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref MESH:C535418 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607706 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching @@ -581,11 +711,13 @@ Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Orphanet:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref MESH:C537053 semapv:UnspecifiedMatching Orphanet:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref UMLS:C2931406 semapv:UnspecifiedMatching Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 semapv:UnspecifiedMatching Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 semapv:UnspecifiedMatching Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref UMLS:C1854150 semapv:UnspecifiedMatching Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref MESH:C535415 semapv:UnspecifiedMatching Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref OMIM:607731 semapv:UnspecifiedMatching Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref UMLS:C1843173 semapv:UnspecifiedMatching @@ -593,6 +725,7 @@ Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref icd11:8C2 Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref UMLS:C5681802 semapv:UnspecifiedMatching +Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref icd11:9A03.00 semapv:UnspecifiedMatching Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref MESH:C542540 semapv:UnspecifiedMatching @@ -603,34 +736,41 @@ Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 se Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref MESH:C537201 semapv:UnspecifiedMatching Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref OMIM:610245 semapv:UnspecifiedMatching Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref UMLS:C1853250 semapv:UnspecifiedMatching +Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref MESH:C537205 semapv:UnspecifiedMatching Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref OMIM:610246 semapv:UnspecifiedMatching Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref UMLS:C1853249 semapv:UnspecifiedMatching +Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref MESH:C537199 semapv:UnspecifiedMatching Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref OMIM:608687 semapv:UnspecifiedMatching Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref UMLS:C1837541 semapv:UnspecifiedMatching +Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref MESH:C537202 semapv:UnspecifiedMatching Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref OMIM:608703 semapv:UnspecifiedMatching Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref UMLS:C1837518 semapv:UnspecifiedMatching +Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref MESH:C537203 semapv:UnspecifiedMatching Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref OMIM:609306 semapv:UnspecifiedMatching Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref UMLS:C1836395 semapv:UnspecifiedMatching +Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref MESH:C537537 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref OMIM:605407 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C2673535 semapv:UnspecifiedMatching +Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref icd11:8A02.11 semapv:UnspecifiedMatching Orphanet:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching +Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref UMLS:C4707896 semapv:UnspecifiedMatching Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching @@ -641,10 +781,14 @@ Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:Un Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0162566 semapv:UnspecifiedMatching Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref icd11:5C58.10 semapv:UnspecifiedMatching Orphanet:101334 African tick typhus oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching +Orphanet:101334 African tick typhus oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching Orphanet:101334 African tick typhus oboInOwl:hasDbXref UMLS:C1320317 semapv:UnspecifiedMatching +Orphanet:101334 African tick typhus oboInOwl:hasDbXref icd11:1C31.1 semapv:UnspecifiedMatching +Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref OMIM:271400 semapv:UnspecifiedMatching Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref UMLS:C4512055 semapv:UnspecifiedMatching +Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref icd11:LB22.0 semapv:UnspecifiedMatching Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:601217 semapv:UnspecifiedMatching @@ -664,6 +808,7 @@ Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:150700 semapv:UnspecifiedMatching Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:308940 semapv:UnspecifiedMatching +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching @@ -690,7 +835,9 @@ Orphanet:101954 Rare adrenal disease oboInOwl:hasDbXref UMLS:C5681801 semapv:Uns Orphanet:101955 Rare thyroid disease oboInOwl:hasDbXref UMLS:C5681800 semapv:UnspecifiedMatching Orphanet:101956 Polyendocrinopathy oboInOwl:hasDbXref UMLS:C5681797 semapv:UnspecifiedMatching Orphanet:101957 Pituitary deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:101957 Pituitary deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:101957 Pituitary deficiency oboInOwl:hasDbXref UMLS:C0020635 semapv:UnspecifiedMatching +Orphanet:101957 Pituitary deficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:101958 Primary adrenal insufficiency oboInOwl:hasDbXref MedDRA:10052381 semapv:UnspecifiedMatching Orphanet:101958 Primary adrenal insufficiency oboInOwl:hasDbXref UMLS:C3887896 semapv:UnspecifiedMatching Orphanet:101960 Genetic chronic primary adrenal insufficiency oboInOwl:hasDbXref UMLS:C5681791 semapv:UnspecifiedMatching @@ -708,6 +855,7 @@ Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref icd11:4B00.00 sema Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity oboInOwl:hasDbXref UMLS:C5681778 semapv:UnspecifiedMatching Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity oboInOwl:hasDbXref icd11:4A00 semapv:UnspecifiedMatching Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref UMLS:C5681769 semapv:UnspecifiedMatching Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref icd11:4A00.1 semapv:UnspecifiedMatching Orphanet:101995 Periodic fever syndrome oboInOwl:hasDbXref MedDRA:10034533 semapv:UnspecifiedMatching @@ -726,6 +874,7 @@ Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref OMIM:146500 semapv:Unspe Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref UMLS:C0393571 semapv:UnspecifiedMatching Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref icd11:8D87.0 semapv:UnspecifiedMatching Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104300 semapv:UnspecifiedMatching Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104310 semapv:UnspecifiedMatching Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:602096 semapv:UnspecifiedMatching @@ -742,20 +891,28 @@ Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXre Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611152 semapv:UnspecifiedMatching Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611154 semapv:UnspecifiedMatching Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref UMLS:C0276496 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref icd11:6D80.0 semapv:UnspecifiedMatching Orphanet:102000 Medullar disease oboInOwl:hasDbXref UMLS:C5681773 semapv:UnspecifiedMatching Orphanet:102002 Rare ataxia oboInOwl:hasDbXref UMLS:C5681771 semapv:UnspecifiedMatching Orphanet:102003 Rare movement disorder oboInOwl:hasDbXref UMLS:C5681772 semapv:UnspecifiedMatching Orphanet:102005 Brain inflammatory disease oboInOwl:hasDbXref UMLS:C5681775 semapv:UnspecifiedMatching Orphanet:102006 Neurovascular malformation oboInOwl:hasDbXref UMLS:C5681774 semapv:UnspecifiedMatching Orphanet:102009 Classic lissencephaly oboInOwl:hasDbXref UMLS:C0431375 semapv:UnspecifiedMatching +Orphanet:102009 Classic lissencephaly oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:102010 Other syndrome with lissencephaly as a major feature oboInOwl:hasDbXref UMLS:C5681781 semapv:UnspecifiedMatching +Orphanet:102010 Other syndrome with lissencephaly as a major feature oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref MESH:C566908 semapv:UnspecifiedMatching Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref UMLS:C1969029 semapv:UnspecifiedMatching +Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:102012 Pure hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0393555 semapv:UnspecifiedMatching Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C5675009 semapv:UnspecifiedMatching +Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref icd11:8C70.40 semapv:UnspecifiedMatching Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:C538640 semapv:UnspecifiedMatching Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C2931907 semapv:UnspecifiedMatching +Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:102020 Autosomal monosomy oboInOwl:hasDbXref UMLS:C0026499 semapv:UnspecifiedMatching +Orphanet:102020 Autosomal monosomy oboInOwl:hasDbXref icd11:LD43 semapv:UnspecifiedMatching +Orphanet:102020 Autosomal monosomy oboInOwl:hasDbXref icd11:LD44 semapv:UnspecifiedMatching Orphanet:102021 Rickettsial disease oboInOwl:hasDbXref MESH:D012282 semapv:UnspecifiedMatching Orphanet:102021 Rickettsial disease oboInOwl:hasDbXref UMLS:C0035585 semapv:UnspecifiedMatching Orphanet:102022 Spotted fever rickettsiosis oboInOwl:hasDbXref UMLS:C5680374 semapv:UnspecifiedMatching @@ -768,6 +925,7 @@ Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:H35.5 s Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref MESH:C536604 semapv:UnspecifiedMatching Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:204110 semapv:UnspecifiedMatching Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C4303739 semapv:UnspecifiedMatching +Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:102237 Unexplained periodic fever syndrome oboInOwl:hasDbXref UMLS:C5681779 semapv:UnspecifiedMatching Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability oboInOwl:hasDbXref UMLS:C5680372 semapv:UnspecifiedMatching Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability oboInOwl:hasDbXref UMLS:C5680373 semapv:UnspecifiedMatching @@ -779,10 +937,13 @@ Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbX Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:102369 Rare syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5681780 semapv:UnspecifiedMatching Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching +Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref UMLS:C1332234 semapv:UnspecifiedMatching +Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref icd11:2A60.20 semapv:UnspecifiedMatching Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref UMLS:C4707659 semapv:UnspecifiedMatching +Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref icd11:2A60.20 semapv:UnspecifiedMatching Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref MESH:C563338 semapv:UnspecifiedMatching @@ -803,14 +964,18 @@ Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:Unspec Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref MESH:C538241 semapv:UnspecifiedMatching Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref UMLS:C2931783 semapv:UnspecifiedMatching +Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching +Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref OMIM:249650 semapv:UnspecifiedMatching Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref UMLS:C0796055 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref MedDRA:10051643 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C0003886 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref UMLS:C4275068 semapv:UnspecifiedMatching Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref icd11:5C61.1 semapv:UnspecifiedMatching Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching @@ -818,12 +983,15 @@ Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:270420 semapv:UnspecifiedMatching Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:616868 semapv:UnspecifiedMatching Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C0267663 semapv:UnspecifiedMatching +Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref icd11:DA90.1 semapv:UnspecifiedMatching +Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref MESH:C562603 semapv:UnspecifiedMatching Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref OMIM:612119 semapv:UnspecifiedMatching Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref UMLS:C0268187 semapv:UnspecifiedMatching Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref icd11:5C61.3 semapv:UnspecifiedMatching Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref UMLS:C4511238 semapv:UnspecifiedMatching Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching @@ -831,6 +999,7 @@ Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:Unsp Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref MESH:C564276 semapv:UnspecifiedMatching Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref OMIM:608189 semapv:UnspecifiedMatching Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref UMLS:C1842402 semapv:UnspecifiedMatching +Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref icd11:DC32.5 semapv:UnspecifiedMatching Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref MESH:D000081012 semapv:UnspecifiedMatching Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref MedDRA:10069002 semapv:UnspecifiedMatching Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref UMLS:C2609129 semapv:UnspecifiedMatching @@ -846,12 +1015,16 @@ Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:308905 se Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:619382 semapv:UnspecifiedMatching Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C0917796 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref MESH:C537351 semapv:UnspecifiedMatching Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:613073 semapv:UnspecifiedMatching Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref UMLS:C0432226 semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:104003 Congenital intestinal transport defect oboInOwl:hasDbXref UMLS:C5681747 semapv:UnspecifiedMatching +Orphanet:104003 Congenital intestinal transport defect oboInOwl:hasDbXref icd11:DA90.1 semapv:UnspecifiedMatching Orphanet:104004 Intestinal disease due to vitamin absorption anomaly oboInOwl:hasDbXref UMLS:C5681746 semapv:UnspecifiedMatching Orphanet:104005 Intestinal disease due to fat malabsorption oboInOwl:hasDbXref UMLS:C5681745 semapv:UnspecifiedMatching Orphanet:104006 Congenital intestinal disease due to an enzymatic defect oboInOwl:hasDbXref UMLS:C5681744 semapv:UnspecifiedMatching @@ -859,6 +1032,7 @@ Orphanet:104007 Congenital enteropathy involving intestinal mucosa development o Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref MedDRA:10049416 semapv:UnspecifiedMatching Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref UMLS:C0036992 semapv:UnspecifiedMatching +Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref icd11:DA96.04 semapv:UnspecifiedMatching Orphanet:104009 Rare disease involving intestinal motility oboInOwl:hasDbXref UMLS:C5681742 semapv:UnspecifiedMatching Orphanet:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MESH:D044483 semapv:UnspecifiedMatching Orphanet:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MedDRA:10057018 semapv:UnspecifiedMatching @@ -870,6 +1044,7 @@ Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref ICD10:D Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref ICD10:D01.4 semapv:UnspecifiedMatching Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref MedDRA:10073373 semapv:UnspecifiedMatching Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref UMLS:C0278803 semapv:UnspecifiedMatching +Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref icd11:2B80.20 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching @@ -879,13 +1054,19 @@ Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.2 Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref MedDRA:10041127 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref UMLS:C0920305 semapv:UnspecifiedMatching Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref icd11:2B58.Y semapv:UnspecifiedMatching Orphanet:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C5681739 semapv:UnspecifiedMatching +Orphanet:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref icd11:DA90.2 semapv:UnspecifiedMatching +Orphanet:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C5681767 semapv:UnspecifiedMatching +Orphanet:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref icd11:DA90.2 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.9 semapv:UnspecifiedMatching Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.9 semapv:UnspecifiedMatching @@ -895,7 +1076,10 @@ Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref MESH:D015160 semapv:Unspecified Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref MedDRA:10020529 semapv:UnspecifiedMatching Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref UMLS:C0020305 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref icd11:KA85 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref icd11:KA85.0 semapv:UnspecifiedMatching Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref icd11:KA85.Y semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref icd11:KC41.1 semapv:UnspecifiedMatching Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref OMIM:600461 semapv:UnspecifiedMatching @@ -912,15 +1096,19 @@ Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref ICD10:Q04.8 se Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref OMIM:206500 semapv:UnspecifiedMatching Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref OMIM:619452 semapv:UnspecifiedMatching Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref UMLS:C5680972 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref icd11:LA00.0 semapv:UnspecifiedMatching Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref icd11:LA00.Y semapv:UnspecifiedMatching Orphanet:105 Atresia of urethra oboInOwl:hasDbXref ICD10:Q64.3 semapv:UnspecifiedMatching +Orphanet:105 Atresia of urethra oboInOwl:hasDbXref ICD10:Q64.3 semapv:UnspecifiedMatching Orphanet:105 Atresia of urethra oboInOwl:hasDbXref MedDRA:10064895 semapv:UnspecifiedMatching Orphanet:105 Atresia of urethra oboInOwl:hasDbXref UMLS:C0345345 semapv:UnspecifiedMatching +Orphanet:105 Atresia of urethra oboInOwl:hasDbXref icd11:LB31.2 semapv:UnspecifiedMatching Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref MESH:C535286 semapv:UnspecifiedMatching Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref OMIM:122430 semapv:UnspecifiedMatching Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref UMLS:C2930866 semapv:UnspecifiedMatching +Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref MESH:C536682 semapv:UnspecifiedMatching @@ -930,6 +1118,7 @@ Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:6175 Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:620153 semapv:UnspecifiedMatching Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:620189 semapv:UnspecifiedMatching Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref UMLS:C4551972 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MESH:C536535 semapv:UnspecifiedMatching @@ -940,6 +1129,7 @@ Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref icd11:LA9 Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref UMLS:C2239253 semapv:UnspecifiedMatching +Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref icd11:LA8A.4 semapv:UnspecifiedMatching Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref UMLS:C0344915 semapv:UnspecifiedMatching @@ -949,12 +1139,15 @@ Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref ICD10:Q27.8 semapv:Unspe Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref MESH:C536240 semapv:UnspecifiedMatching Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref OMIM:112200 semapv:UnspecifiedMatching Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref UMLS:C0346072 semapv:UnspecifiedMatching +Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref icd11:LC51 semapv:UnspecifiedMatching +Orphanet:106 NON RARE IN EUROPE: Autism oboInOwl:hasDbXref ICD10:F84.0 semapv:UnspecifiedMatching Orphanet:106 NON RARE IN EUROPE: Autism oboInOwl:hasDbXref ICD10:F84.0 semapv:UnspecifiedMatching Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref MESH:C536364 semapv:UnspecifiedMatching Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref OMIM:106070 semapv:UnspecifiedMatching Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref UMLS:C5680615 semapv:UnspecifiedMatching +Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:1063 Tufted angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:1063 Tufted angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:1063 Tufted angioma oboInOwl:hasDbXref MESH:C536924 semapv:UnspecifiedMatching @@ -967,13 +1160,16 @@ Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl: Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref OMIM:206750 semapv:UnspecifiedMatching Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref UMLS:C4518585 semapv:UnspecifiedMatching Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536370 semapv:UnspecifiedMatching Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10083858 semapv:UnspecifiedMatching Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:206700 semapv:UnspecifiedMatching Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0431401 semapv:UnspecifiedMatching Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching +Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome oboInOwl:hasDbXref UMLS:C4303736 semapv:UnspecifiedMatching Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching +Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536568 semapv:UnspecifiedMatching Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931243 semapv:UnspecifiedMatching Orphanet:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -1011,9 +1207,12 @@ Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInO Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref ICD10:K03.5 semapv:UnspecifiedMatching +Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref ICD10:K03.5 semapv:UnspecifiedMatching Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref MESH:D020254 semapv:UnspecifiedMatching Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref MedDRA:10044019 semapv:UnspecifiedMatching Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref UMLS:C0155930 semapv:UnspecifiedMatching +Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref icd11:DA07.61 semapv:UnspecifiedMatching +Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537511 semapv:UnspecifiedMatching Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref OMIM:188201 semapv:UnspecifiedMatching @@ -1023,6 +1222,7 @@ Orphanet:108 Babesiosis oboInOwl:hasDbXref ICD10:B60.0 semapv:UnspecifiedMatchin Orphanet:108 Babesiosis oboInOwl:hasDbXref MESH:D001404 semapv:UnspecifiedMatching Orphanet:108 Babesiosis oboInOwl:hasDbXref MedDRA:10003965 semapv:UnspecifiedMatching Orphanet:108 Babesiosis oboInOwl:hasDbXref UMLS:C0004576 semapv:UnspecifiedMatching +Orphanet:108 Babesiosis oboInOwl:hasDbXref icd11:1F52 semapv:UnspecifiedMatching Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref MedDRA:10061060 semapv:UnspecifiedMatching @@ -1033,9 +1233,11 @@ Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:Unspecifi Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref OMIM:614019 semapv:UnspecifiedMatching Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref OMIM:616212 semapv:UnspecifiedMatching Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref UMLS:C1956147 semapv:UnspecifiedMatching +Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref UMLS:C4275151 semapv:UnspecifiedMatching +Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:108959 Non-syndromic esophageal malformation oboInOwl:hasDbXref UMLS:C5681768 semapv:UnspecifiedMatching Orphanet:108961 Syndromic esophageal malformation oboInOwl:hasDbXref UMLS:C5681763 semapv:UnspecifiedMatching Orphanet:108963 Non-syndromic gastroduodenal malformation oboInOwl:hasDbXref UMLS:C5681764 semapv:UnspecifiedMatching @@ -1057,7 +1259,10 @@ Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 se Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref MedDRA:10080314 semapv:UnspecifiedMatching Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref UMLS:C0265326 semapv:UnspecifiedMatching +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:109007 Arthrogryposis syndrome oboInOwl:hasDbXref MESH:D001176 semapv:UnspecifiedMatching +Orphanet:109007 Arthrogryposis syndrome oboInOwl:hasDbXref icd11:LD26.4 semapv:UnspecifiedMatching +Orphanet:109009 Syndrome with limb malformations as a major feature oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:109009 Syndrome with limb malformations as a major feature oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:109009 Syndrome with limb malformations as a major feature oboInOwl:hasDbXref UMLS:C5681750 semapv:UnspecifiedMatching Orphanet:109011 Non-syndromic limb malformation oboInOwl:hasDbXref UMLS:C5681749 semapv:UnspecifiedMatching @@ -1099,6 +1304,7 @@ Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615996 semapv:Unspeci Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617119 semapv:UnspecifiedMatching Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617406 semapv:UnspecifiedMatching Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS:C0752166 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4304035 semapv:UnspecifiedMatching @@ -1107,10 +1313,13 @@ Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:U Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref MESH:C537767 semapv:UnspecifiedMatching Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref OMIM:600776 semapv:UnspecifiedMatching Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref UMLS:C1833339 semapv:UnspecifiedMatching +Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching +Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref MESH:C537769 semapv:UnspecifiedMatching Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref OMIM:206920 semapv:UnspecifiedMatching Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref UMLS:C0599973 semapv:UnspecifiedMatching +Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching Orphanet:111 Barth syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:111 Barth syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:111 Barth syndrome oboInOwl:hasDbXref MESH:D056889 semapv:UnspecifiedMatching @@ -1129,27 +1338,35 @@ Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref OMIM:207620 semapv:UnspecifiedMatching Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1859754 semapv:UnspecifiedMatching Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref OMIM:600384 semapv:UnspecifiedMatching Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4304033 semapv:UnspecifiedMatching Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref MedDRA:10002963 semapv:UnspecifiedMatching Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref OMIM:107600 semapv:UnspecifiedMatching Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref OMIM:600360 semapv:UnspecifiedMatching Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref UMLS:C0282160 semapv:UnspecifiedMatching Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref icd11:LC60 semapv:UnspecifiedMatching Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref MESH:C537788 semapv:UnspecifiedMatching Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref OMIM:207731 semapv:UnspecifiedMatching Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref UMLS:C4304031 semapv:UnspecifiedMatching +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching +Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref OMIM:601075 semapv:UnspecifiedMatching Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref UMLS:C4304032 semapv:UnspecifiedMatching +Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C537930 semapv:UnspecifiedMatching Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:113310 semapv:UnspecifiedMatching Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C4303759 semapv:UnspecifiedMatching Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching Orphanet:112 Bartter syndrome oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:112 Bartter syndrome oboInOwl:hasDbXref MESH:D001477 semapv:UnspecifiedMatching Orphanet:112 Bartter syndrome oboInOwl:hasDbXref MedDRA:10050839 semapv:UnspecifiedMatching Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching @@ -1166,8 +1383,10 @@ Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDb Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref OMIM:601612 semapv:UnspecifiedMatching Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref UMLS:C4302918 semapv:UnspecifiedMatching Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome oboInOwl:hasDbXref UMLS:C5190823 semapv:UnspecifiedMatching Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref MESH:C536936 semapv:UnspecifiedMatching Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref OMIM:314360 semapv:UnspecifiedMatching Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref UMLS:C4518553 semapv:UnspecifiedMatching @@ -1175,28 +1394,34 @@ Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref MESH:C537713 semapv:UnspecifiedMatching Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref UMLS:C2931593 semapv:UnspecifiedMatching +Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref MESH:C537423 semapv:UnspecifiedMatching Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 semapv:UnspecifiedMatching Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref UMLS:C0543874 semapv:UnspecifiedMatching +Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref icd11:9C82.4 semapv:UnspecifiedMatching Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref MESH:C563331 semapv:UnspecifiedMatching Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref OMIM:601374 semapv:UnspecifiedMatching Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref UMLS:C1832412 semapv:UnspecifiedMatching +Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref icd11:LA05.Y semapv:UnspecifiedMatching Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537024 semapv:UnspecifiedMatching Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931398 semapv:UnspecifiedMatching Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref MESH:C537663 semapv:UnspecifiedMatching Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref OMIM:301845 semapv:UnspecifiedMatching Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref UMLS:C0346104 semapv:UnspecifiedMatching +Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref icd11:LD27.5 semapv:UnspecifiedMatching Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304030 semapv:UnspecifiedMatching Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref MESH:C537102 semapv:UnspecifiedMatching Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref OMIM:301950 semapv:UnspecifiedMatching Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref UMLS:C1844918 semapv:UnspecifiedMatching @@ -1217,12 +1442,15 @@ Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXre Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref UMLS:C1863878 semapv:UnspecifiedMatching +Orphanet:1138 Abnormal origin of the pulmonary artery oboInOwl:hasDbXref icd11:LA8B.1 semapv:UnspecifiedMatching +Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref MESH:C538271 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref OMIM:109000 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref UMLS:C1862381 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:208100 semapv:UnspecifiedMatching Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1859721 semapv:UnspecifiedMatching @@ -1232,6 +1460,7 @@ Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome o Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref MESH:C535386 semapv:UnspecifiedMatching Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:108200 semapv:UnspecifiedMatching Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1862471 semapv:UnspecifiedMatching +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref MESH:C535380 semapv:UnspecifiedMatching @@ -1247,6 +1476,7 @@ Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:614335 semapv Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref UMLS:C0220662 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref MESH:C538400 semapv:UnspecifiedMatching @@ -1254,6 +1484,8 @@ Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:601680 semapv:Unspec Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref UMLS:C1834523 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching +Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref MESH:C538124 semapv:UnspecifiedMatching Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching @@ -1275,6 +1507,7 @@ Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies synd Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref MESH:C537737 semapv:UnspecifiedMatching Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref UMLS:C1862472 semapv:UnspecifiedMatching +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref MESH:C535387 semapv:UnspecifiedMatching @@ -1282,10 +1515,13 @@ Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:has Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref UMLS:C0432215 semapv:UnspecifiedMatching Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MedDRA:10050344 semapv:UnspecifiedMatching Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0004903 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching Orphanet:1160 Chylous ascites oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching Orphanet:1160 Chylous ascites oboInOwl:hasDbXref MESH:D002915 semapv:UnspecifiedMatching Orphanet:1160 Chylous ascites oboInOwl:hasDbXref MedDRA:10003446 semapv:UnspecifiedMatching @@ -1293,8 +1529,12 @@ Orphanet:1160 Chylous ascites oboInOwl:hasDbXref OMIM:208300 semapv:UnspecifiedM Orphanet:1160 Chylous ascites oboInOwl:hasDbXref UMLS:C0008732 semapv:UnspecifiedMatching Orphanet:1160 Chylous ascites oboInOwl:hasDbXref icd11:DC51.0 semapv:UnspecifiedMatching Orphanet:1162 NON RARE IN EUROPE: Asperger syndrome oboInOwl:hasDbXref ICD10:F84.5 semapv:UnspecifiedMatching +Orphanet:1162 NON RARE IN EUROPE: Asperger syndrome oboInOwl:hasDbXref ICD10:F84.5 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.0 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.0 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.1 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.1 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.2 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.2 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.7 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.7 semapv:UnspecifiedMatching @@ -1306,7 +1546,12 @@ Orphanet:1163 Aspergillosis oboInOwl:hasDbXref MESH:D001228 semapv:UnspecifiedMa Orphanet:1163 Aspergillosis oboInOwl:hasDbXref MedDRA:10003488 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref OMIM:614079 semapv:UnspecifiedMatching Orphanet:1163 Aspergillosis oboInOwl:hasDbXref UMLS:C0004030 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref icd11:1F20 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref icd11:1F20.0 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref icd11:1F20.1 semapv:UnspecifiedMatching Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:B44.1+ semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:B44.1+ semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 semapv:UnspecifiedMatching Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MedDRA:10006474 semapv:UnspecifiedMatching @@ -1322,11 +1567,15 @@ Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref ICD10:G11.3 se Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref MESH:C538013 semapv:UnspecifiedMatching Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref OMIM:208920 semapv:UnspecifiedMatching Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref UMLS:C1859598 semapv:UnspecifiedMatching +Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref icd11:5C53.22 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref ICD10:M35.2 semapv:UnspecifiedMatching Orphanet:117 Behçet disease oboInOwl:hasDbXref ICD10:M35.2 semapv:UnspecifiedMatching Orphanet:117 Behçet disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching Orphanet:117 Behçet disease oboInOwl:hasDbXref MedDRA:10004213 semapv:UnspecifiedMatching Orphanet:117 Behçet disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching Orphanet:117 Behçet disease oboInOwl:hasDbXref UMLS:C0004943 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref icd11:4A62 semapv:UnspecifiedMatching +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref MESH:C565865 semapv:UnspecifiedMatching Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref OMIM:213200 semapv:UnspecifiedMatching @@ -1374,6 +1623,7 @@ Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:h Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref UMLS:C1868576 semapv:UnspecifiedMatching Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref icd11:9C83.11 semapv:UnspecifiedMatching Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 semapv:UnspecifiedMatching Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 semapv:UnspecifiedMatching Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref UMLS:C4048196 semapv:UnspecifiedMatching @@ -1406,19 +1656,24 @@ Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G1 Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref MESH:C535523 semapv:UnspecifiedMatching Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1849096 semapv:UnspecifiedMatching +Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref MESH:C535388 semapv:UnspecifiedMatching Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref UMLS:C0796028 semapv:UnspecifiedMatching +Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:208850 semapv:UnspecifiedMatching Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4304023 semapv:UnspecifiedMatching +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref MESH:C535902 semapv:UnspecifiedMatching Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref OMIM:604286 semapv:UnspecifiedMatching Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref UMLS:C1858593 semapv:UnspecifiedMatching +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref MESH:C535396 semapv:UnspecifiedMatching @@ -1430,19 +1685,23 @@ Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ob Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref MESH:C536178 semapv:UnspecifiedMatching Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref OMIM:209010 semapv:UnspecifiedMatching Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref UMLS:C2931125 semapv:UnspecifiedMatching +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref MESH:C538195 semapv:UnspecifiedMatching Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref OMIM:300431 semapv:UnspecifiedMatching Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref UMLS:C0796206 semapv:UnspecifiedMatching Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref OMIM:614052 semapv:UnspecifiedMatching Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref UMLS:C4273660 semapv:UnspecifiedMatching Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref MESH:C538259 semapv:UnspecifiedMatching Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref OMIM:209300 semapv:UnspecifiedMatching Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref UMLS:C0521802 semapv:UnspecifiedMatching +Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref icd11:5D0Y semapv:UnspecifiedMatching Orphanet:1198 Colonic atresia oboInOwl:hasDbXref ICD10:Q42.9 semapv:UnspecifiedMatching Orphanet:1198 Colonic atresia oboInOwl:hasDbXref ICD10:Q42.9 semapv:UnspecifiedMatching Orphanet:1198 Colonic atresia oboInOwl:hasDbXref MESH:C562562 semapv:UnspecifiedMatching @@ -1450,12 +1709,14 @@ Orphanet:1198 Colonic atresia oboInOwl:hasDbXref OMIM:303650 semapv:UnspecifiedM Orphanet:1198 Colonic atresia oboInOwl:hasDbXref UMLS:C0266190 semapv:UnspecifiedMatching Orphanet:1198 Colonic atresia oboInOwl:hasDbXref icd11:LB16.0 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.0 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.0 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.1 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.1 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref MESH:D004933 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref MedDRA:10030146 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref OMIM:189960 semapv:UnspecifiedMatching Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref UMLS:C0014850 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref icd11:LB12.1 semapv:UnspecifiedMatching Orphanet:120 NON RARE IN EUROPE: Pernicious anemia oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching Orphanet:120 NON RARE IN EUROPE: Pernicious anemia oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -1471,6 +1732,8 @@ Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.1 semapv:Unspecif Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.2 semapv:UnspecifiedMatching Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.2 semapv:UnspecifiedMatching Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.8 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.8 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.9 semapv:UnspecifiedMatching Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.9 semapv:UnspecifiedMatching Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref MESH:C538260 semapv:UnspecifiedMatching Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref MedDRA:10010626 semapv:UnspecifiedMatching @@ -1478,36 +1741,46 @@ Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref OMIM:243600 semapv:Unspecif Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref UMLS:C0266172 semapv:UnspecifiedMatching Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref icd11:LB15.1 semapv:UnspecifiedMatching Orphanet:1202 Larynx atresia oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching +Orphanet:1202 Larynx atresia oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching Orphanet:1202 Larynx atresia oboInOwl:hasDbXref OMIM:150300 semapv:UnspecifiedMatching Orphanet:1202 Larynx atresia oboInOwl:hasDbXref UMLS:C0265756 semapv:UnspecifiedMatching +Orphanet:1202 Larynx atresia oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref MESH:C535720 semapv:UnspecifiedMatching Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref MedDRA:10013812 semapv:UnspecifiedMatching Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref OMIM:223400 semapv:UnspecifiedMatching Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref UMLS:C0266174 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref icd11:LB14 semapv:UnspecifiedMatching +Orphanet:1205 Mitral atresia oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching Orphanet:1205 Mitral atresia oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching Orphanet:1205 Mitral atresia oboInOwl:hasDbXref UMLS:C0344760 semapv:UnspecifiedMatching +Orphanet:1205 Mitral atresia oboInOwl:hasDbXref icd11:LA89.2 semapv:UnspecifiedMatching Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref ICD10:Q25.5 semapv:UnspecifiedMatching Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref ICD10:Q25.5 semapv:UnspecifiedMatching Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref MESH:C562833 semapv:UnspecifiedMatching Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref OMIM:178370 semapv:UnspecifiedMatching Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref UMLS:C0344976 semapv:UnspecifiedMatching +Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref icd11:LA88.21 semapv:UnspecifiedMatching +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref MESH:C562832 semapv:UnspecifiedMatching Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref OMIM:265150 semapv:UnspecifiedMatching Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref UMLS:C0344975 semapv:UnspecifiedMatching Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref icd11:LA8A.10 semapv:UnspecifiedMatching Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref MESH:D018785 semapv:UnspecifiedMatching Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref MedDRA:10049767 semapv:UnspecifiedMatching Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref OMIM:605067 semapv:UnspecifiedMatching Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref UMLS:C0243002 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref icd11:LA89.1 semapv:UnspecifiedMatching Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref ICD10:G51.8 semapv:UnspecifiedMatching Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref ICD10:G51.8 semapv:UnspecifiedMatching Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref MedDRA:10073006 semapv:UnspecifiedMatching Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref OMIM:141300 semapv:UnspecifiedMatching Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref UMLS:C0015458 semapv:UnspecifiedMatching +Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref icd11:EB61.Y semapv:UnspecifiedMatching Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching @@ -1535,6 +1808,7 @@ Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MESH:D058249 semapv:Uns Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MedDRA:10067736 semapv:UnspecifiedMatching Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref OMIM:135150 semapv:UnspecifiedMatching Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref UMLS:C0346010 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref icd11:LD27.5 semapv:UnspecifiedMatching Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref ICD10:K13.0 semapv:UnspecifiedMatching Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref ICD10:K13.0 semapv:UnspecifiedMatching Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref MESH:C535921 semapv:UnspecifiedMatching @@ -1553,6 +1827,7 @@ Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref MESH:C536788 semapv:Unsp Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref MedDRA:10083963 semapv:UnspecifiedMatching Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS:C0265308 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref MESH:C537901 semapv:UnspecifiedMatching @@ -1565,6 +1840,7 @@ Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref MESH:C537902 semapv:Unspecifi Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref OMIM:210740 semapv:UnspecifiedMatching Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref UMLS:C0342284 semapv:UnspecifiedMatching Orphanet:1228 Banki syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:1228 Banki syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching Orphanet:1228 Banki syndrome oboInOwl:hasDbXref MESH:C566228 semapv:UnspecifiedMatching Orphanet:1228 Banki syndrome oboInOwl:hasDbXref OMIM:109300 semapv:UnspecifiedMatching Orphanet:1228 Banki syndrome oboInOwl:hasDbXref UMLS:C1862319 semapv:UnspecifiedMatching @@ -1573,6 +1849,7 @@ Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref MESH:C537905 semapv:UnspecifiedMatching Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref OMIM:251290 semapv:UnspecifiedMatching Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref UMLS:C2931662 semapv:UnspecifiedMatching +Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref MESH:C537633 semapv:UnspecifiedMatching @@ -1584,12 +1861,16 @@ Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:Unspecif Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref OMIM:209885 semapv:UnspecifiedMatching Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref UMLS:C1319466 semapv:UnspecifiedMatching +Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref icd11:LD27.3 semapv:UnspecifiedMatching +Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref MESH:C564874 semapv:UnspecifiedMatching Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref OMIM:263650 semapv:UnspecifiedMatching Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref OMIM:619339 semapv:UnspecifiedMatching Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref UMLS:C1849718 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref UMLS:C5190778 semapv:UnspecifiedMatching @@ -1625,9 +1906,12 @@ Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618313 semapv:Unspe Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:620072 semapv:UnspecifiedMatching Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref icd11:3A60.1 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref MESH:C537350 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref OMIM:250215 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref UMLS:C1855243 semapv:UnspecifiedMatching +Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching +Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref MESH:C564199 semapv:UnspecifiedMatching Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref OMIM:141350 semapv:UnspecifiedMatching @@ -1636,6 +1920,8 @@ Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref UMLS:C0339510 semapv:UnspecifiedMatching +Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching Orphanet:1245 BIDS syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching Orphanet:1245 BIDS syndrome oboInOwl:hasDbXref UMLS:C3495483 semapv:UnspecifiedMatching @@ -1644,8 +1930,12 @@ Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbX Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:113400 semapv:UnspecifiedMatching Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref UMLS:C0344467 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.0 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.0 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.1 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.1 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.2 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.2 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.3 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.3 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.8 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.8 semapv:UnspecifiedMatching @@ -1655,11 +1945,19 @@ Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref MESH:D012552 semapv:Unspecified Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref MedDRA:10039603 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref UMLS:C0036323 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref icd11:1F86 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref icd11:1F86.0 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref icd11:1F86.1 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref icd11:1F86.2 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref icd11:1F86.3 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref MESH:C536036 semapv:UnspecifiedMatching Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref MedDRA:10075843 semapv:UnspecifiedMatching Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref OMIM:155050 semapv:UnspecifiedMatching Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref UMLS:C0220692 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:125 Bloom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:125 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 semapv:UnspecifiedMatching Orphanet:125 Bloom syndrome oboInOwl:hasDbXref MedDRA:10073032 semapv:UnspecifiedMatching @@ -1676,6 +1974,7 @@ Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedM Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref MESH:C562742 semapv:UnspecifiedMatching Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref OMIM:109900 semapv:UnspecifiedMatching Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref UMLS:C0339085 semapv:UnspecifiedMatching +Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref MESH:C536236 semapv:UnspecifiedMatching @@ -1683,10 +1982,12 @@ Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref O Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref UMLS:C4303549 semapv:UnspecifiedMatching Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref MESH:C562419 semapv:UnspecifiedMatching Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref MedDRA:10081258 semapv:UnspecifiedMatching Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref UMLS:C0220663 semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref OMIM:225755 semapv:UnspecifiedMatching @@ -1698,6 +1999,7 @@ Orphanet:1262 Böök syndrome oboInOwl:hasDbXref OMIM:112300 semapv:UnspecifiedM Orphanet:1262 Böök syndrome oboInOwl:hasDbXref UMLS:C0457014 semapv:UnspecifiedMatching Orphanet:1262 Böök syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref MESH:C536573 semapv:UnspecifiedMatching Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 semapv:UnspecifiedMatching Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref UMLS:C0432201 semapv:UnspecifiedMatching @@ -1712,6 +2014,7 @@ Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref MedDRA:10006041 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref UMLS:C0006057 semapv:UnspecifiedMatching @@ -1727,6 +2030,7 @@ Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspe Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref MESH:C537081 semapv:UnspecifiedMatching Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref OMIM:211180 semapv:UnspecifiedMatching Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref UMLS:C1859405 semapv:UnspecifiedMatching +Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:1271 Bowen syndrome oboInOwl:hasDbXref OMIM:211200 semapv:UnspecifiedMatching Orphanet:1271 Bowen syndrome oboInOwl:hasDbXref UMLS:C1859404 semapv:UnspecifiedMatching Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -1736,18 +2040,22 @@ Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:Unspeci Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601353 semapv:UnspecifiedMatching Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref UMLS:C0795941 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref MESH:C566090 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref OMIM:186550 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref UMLS:C1861313 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref MESH:C537095 semapv:UnspecifiedMatching Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref OMIM:112410 semapv:UnspecifiedMatching Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref UMLS:C1862170 semapv:UnspecifiedMatching +Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref UMLS:C4707567 semapv:UnspecifiedMatching Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref OMIM:112450 semapv:UnspecifiedMatching Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref UMLS:C4518542 semapv:UnspecifiedMatching Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref ICD10:B70.0 semapv:UnspecifiedMatching @@ -1761,6 +2069,7 @@ Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref ICD10:L66.0 semapv:Unspeci Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref UMLS:C0086873 semapv:UnspecifiedMatching Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref icd11:ED70.5Y semapv:UnspecifiedMatching Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref MESH:C536242 semapv:UnspecifiedMatching Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref OMIM:113477 semapv:UnspecifiedMatching Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref UMLS:C1862082 semapv:UnspecifiedMatching @@ -1794,6 +2103,7 @@ Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref O Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref UMLS:C0878676 semapv:UnspecifiedMatching Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching Orphanet:130 Brugada syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:130 Brugada syndrome oboInOwl:hasDbXref MESH:D053840 semapv:UnspecifiedMatching Orphanet:130 Brugada syndrome oboInOwl:hasDbXref MedDRA:10059027 semapv:UnspecifiedMatching Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:601144 semapv:UnspecifiedMatching @@ -1806,18 +2116,29 @@ Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedM Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613123 semapv:UnspecifiedMatching Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:616399 semapv:UnspecifiedMatching Orphanet:130 Brugada syndrome oboInOwl:hasDbXref UMLS:C1142166 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref icd11:BC65.1 semapv:UnspecifiedMatching +Orphanet:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:119500 semapv:UnspecifiedMatching +Orphanet:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching +Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MESH:D018549 semapv:UnspecifiedMatching Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MedDRA:10011496 semapv:UnspecifiedMatching Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref UMLS:C0242770 semapv:UnspecifiedMatching +Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref icd11:CB03.2 semapv:UnspecifiedMatching +Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref MedDRA:10029888 semapv:UnspecifiedMatching Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref UMLS:C5575762 semapv:UnspecifiedMatching +Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref icd11:CA26.0 semapv:UnspecifiedMatching Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.0 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.0 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.1 semapv:UnspecifiedMatching Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.1 semapv:UnspecifiedMatching Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.2 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.2 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.3 semapv:UnspecifiedMatching Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.3 semapv:UnspecifiedMatching Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.8 semapv:UnspecifiedMatching Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.8 semapv:UnspecifiedMatching @@ -1834,6 +2155,7 @@ Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:Unspecifie Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref UMLS:C0796068 semapv:UnspecifiedMatching Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1306 NON RARE IN EUROPE: Buschke-Ollendorff syndrome oboInOwl:hasDbXref icd11:EC4Y semapv:UnspecifiedMatching Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching @@ -1845,16 +2167,21 @@ Orphanet:1308 C syndrome oboInOwl:hasDbXref MESH:C537418 semapv:UnspecifiedMatch Orphanet:1308 C syndrome oboInOwl:hasDbXref MedDRA:10083975 semapv:UnspecifiedMatching Orphanet:1308 C syndrome oboInOwl:hasDbXref OMIM:211750 semapv:UnspecifiedMatching Orphanet:1308 C syndrome oboInOwl:hasDbXref UMLS:C0796095 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching +Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref MESH:D007691 semapv:UnspecifiedMatching Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref MedDRA:10027104 semapv:UnspecifiedMatching Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref UMLS:C0022681 semapv:UnspecifiedMatching Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref icd11:LB30.8 semapv:UnspecifiedMatching Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10:I82.0 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10:I82.0 semapv:UnspecifiedMatching Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 semapv:UnspecifiedMatching Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref MedDRA:10006537 semapv:UnspecifiedMatching Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0856761 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref icd11:DB98.5 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:1310 Caffey disease oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:1310 Caffey disease oboInOwl:hasDbXref MESH:D006958 semapv:UnspecifiedMatching Orphanet:1310 Caffey disease oboInOwl:hasDbXref MedDRA:10073206 semapv:UnspecifiedMatching @@ -1878,20 +2205,24 @@ Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref OMIM:211890 semapv:Uns Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref UMLS:C1859371 semapv:UnspecifiedMatching Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref icd11:LD24.C semapv:UnspecifiedMatching Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref MESH:C537967 semapv:UnspecifiedMatching Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref OMIM:114150 semapv:UnspecifiedMatching Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref UMLS:C1861963 semapv:UnspecifiedMatching Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref MESH:C537417 semapv:UnspecifiedMatching Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref MedDRA:10062674 semapv:UnspecifiedMatching Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref OMIM:617936 semapv:UnspecifiedMatching Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref UMLS:C1283400 semapv:UnspecifiedMatching Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref icd11:5C59.Y semapv:UnspecifiedMatching Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref ICD10:M43.8 semapv:UnspecifiedMatching +Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref ICD10:M43.8 semapv:UnspecifiedMatching Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref MESH:C537968 semapv:UnspecifiedMatching Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref MedDRA:10069646 semapv:UnspecifiedMatching Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref UMLS:C0264162 semapv:UnspecifiedMatching Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C537287 semapv:UnspecifiedMatching Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:211930 semapv:UnspecifiedMatching Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1859357 semapv:UnspecifiedMatching @@ -1901,23 +2232,28 @@ Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref OMIM:602612 semapv:UnspecifiedMatching Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref UMLS:C2931051 semapv:UnspecifiedMatching Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref MESH:C537972 semapv:UnspecifiedMatching Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref UMLS:C4518792 semapv:UnspecifiedMatching Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref MESH:C537971 semapv:UnspecifiedMatching Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref OMIM:211920 semapv:UnspecifiedMatching Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref UMLS:C2931680 semapv:UnspecifiedMatching Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref MESH:C537970 semapv:UnspecifiedMatching Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref OMIM:211910 semapv:UnspecifiedMatching Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref UMLS:C1859359 semapv:UnspecifiedMatching Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10:Q78.3 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10:Q78.3 semapv:UnspecifiedMatching Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref MESH:D003966 semapv:UnspecifiedMatching Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref MedDRA:10087147 semapv:UnspecifiedMatching Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS:C0011989 semapv:UnspecifiedMatching Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0344787 semapv:UnspecifiedMatching Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref icd11:LA87.43 semapv:UnspecifiedMatching Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref ICD10:J63.2 semapv:UnspecifiedMatching @@ -1927,8 +2263,10 @@ Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref MedDRA:10004485 semapv Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref UMLS:C0221052 semapv:UnspecifiedMatching Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref icd11:CA60.6 semapv:UnspecifiedMatching Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref MESH:C536112 semapv:UnspecifiedMatching Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0344735 semapv:UnspecifiedMatching +Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref icd11:LA87.40 semapv:UnspecifiedMatching Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref MESH:C537243 semapv:UnspecifiedMatching @@ -1952,11 +2290,14 @@ Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611958 semapv:Uns Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:614731 semapv:UnspecifiedMatching Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref UMLS:C2931456 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref icd11:2C82.Y semapv:UnspecifiedMatching Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MedDRA:10027101 semapv:UnspecifiedMatching Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238462 semapv:UnspecifiedMatching +Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref icd11:2D10.4 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref ICD10:C25 semapv:UnspecifiedMatching Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref ICD10:C25 semapv:UnspecifiedMatching Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref MESH:C535837 semapv:UnspecifiedMatching Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 semapv:UnspecifiedMatching @@ -1988,6 +2329,7 @@ Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref OMIM:313850 semapv:Unspec Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref UMLS:C0559483 semapv:UnspecifiedMatching Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref MESH:C564172 semapv:UnspecifiedMatching Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:144190 semapv:UnspecifiedMatching Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref UMLS:C1840428 semapv:UnspecifiedMatching @@ -2013,6 +2355,7 @@ Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615280 semap Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref UMLS:C1275081 semapv:UnspecifiedMatching Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref MESH:C535853 semapv:UnspecifiedMatching Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref OMIM:140450 semapv:UnspecifiedMatching Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref UMLS:C1841657 semapv:UnspecifiedMatching @@ -2023,6 +2366,8 @@ Orphanet:1344 Atrial standstill oboInOwl:hasDbXref MedDRA:10087237 semapv:Unspec Orphanet:1344 Atrial standstill oboInOwl:hasDbXref OMIM:108770 semapv:UnspecifiedMatching Orphanet:1344 Atrial standstill oboInOwl:hasDbXref OMIM:615745 semapv:UnspecifiedMatching Orphanet:1344 Atrial standstill oboInOwl:hasDbXref UMLS:C0541782 semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref icd11:BC80.Y semapv:UnspecifiedMatching +Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref MESH:C537616 semapv:UnspecifiedMatching Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref UMLS:C2931548 semapv:UnspecifiedMatching @@ -2030,11 +2375,13 @@ Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl:hasDbXref UMLS:C4510409 semapv:UnspecifiedMatching Orphanet:135 CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:135 CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:135 CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching Orphanet:135 CACH syndrome oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching Orphanet:135 CACH syndrome oboInOwl:hasDbXref UMLS:C1858991 semapv:UnspecifiedMatching Orphanet:135 CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref MESH:C536784 semapv:UnspecifiedMatching Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref UMLS:C2931323 semapv:UnspecifiedMatching Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching @@ -2043,6 +2390,7 @@ Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect sy Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref OMIM:600123 semapv:UnspecifiedMatching Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref UMLS:C4706259 semapv:UnspecifiedMatching Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref MESH:C535850 semapv:UnspecifiedMatching Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref OMIM:212135 semapv:UnspecifiedMatching Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref UMLS:C1859327 semapv:UnspecifiedMatching @@ -2067,15 +2415,18 @@ Orphanet:1359 Carney complex oboInOwl:hasDbXref OMIM:605244 semapv:UnspecifiedMa Orphanet:1359 Carney complex oboInOwl:hasDbXref UMLS:C0406810 semapv:UnspecifiedMatching Orphanet:1359 Carney complex oboInOwl:hasDbXref icd11:5A70.Y semapv:UnspecifiedMatching Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MedDRA:10065551 semapv:UnspecifiedMatching Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:125310 semapv:UnspecifiedMatching Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C0751587 semapv:UnspecifiedMatching Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref icd11:8B22.C0 semapv:UnspecifiedMatching Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref OMIM:212200 semapv:UnspecifiedMatching Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref icd11:5C50.F1 semapv:UnspecifiedMatching Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref MESH:C535336 semapv:UnspecifiedMatching @@ -2087,12 +2438,14 @@ Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.2 s Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref MESH:C538283 semapv:UnspecifiedMatching Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:212710 semapv:UnspecifiedMatching Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C0796123 semapv:UnspecifiedMatching +Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref MESH:C538280 semapv:UnspecifiedMatching Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:212350 semapv:UnspecifiedMatching Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:615418 semapv:UnspecifiedMatching Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref UMLS:C1859317 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref icd11:5C53.Y semapv:UnspecifiedMatching Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref MESH:D018981 semapv:UnspecifiedMatching @@ -2107,6 +2460,7 @@ Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl: Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537959 semapv:UnspecifiedMatching Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:211770 semapv:UnspecifiedMatching Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796282 semapv:UnspecifiedMatching +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD27.3 semapv:UnspecifiedMatching Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref ICD10:P91.6 semapv:UnspecifiedMatching Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref ICD10:P91.6 semapv:UnspecifiedMatching Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref UMLS:C5575064 semapv:UnspecifiedMatching @@ -2118,32 +2472,44 @@ Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref icd11:2E67.1 Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref icd11:2E67.13 semapv:UnspecifiedMatching Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref icd11:GA13.1 semapv:UnspecifiedMatching Orphanet:137593 Infectious epithelial keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:137593 Infectious epithelial keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching Orphanet:137593 Infectious epithelial keratitis oboInOwl:hasDbXref UMLS:C4749790 semapv:UnspecifiedMatching +Orphanet:137593 Infectious epithelial keratitis oboInOwl:hasDbXref icd11:1F00.10 semapv:UnspecifiedMatching Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref MedDRA:10069732 semapv:UnspecifiedMatching Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref UMLS:C0339296 semapv:UnspecifiedMatching +Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref icd11:1F00.10 semapv:UnspecifiedMatching Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref UMLS:C5680626 semapv:UnspecifiedMatching +Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref icd11:1F00.10 semapv:UnspecifiedMatching +Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref MedDRA:10062621 semapv:UnspecifiedMatching Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref UMLS:C0423262 semapv:UnspecifiedMatching +Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref icd11:9A70.0 semapv:UnspecifiedMatching Orphanet:137605 Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:137605 Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:137605 Legius syndrome oboInOwl:hasDbXref MESH:C548032 semapv:UnspecifiedMatching Orphanet:137605 Legius syndrome oboInOwl:hasDbXref OMIM:611431 semapv:UnspecifiedMatching Orphanet:137605 Legius syndrome oboInOwl:hasDbXref UMLS:C1969623 semapv:UnspecifiedMatching +Orphanet:137605 Legius syndrome oboInOwl:hasDbXref icd11:LD27.5 semapv:UnspecifiedMatching +Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref UMLS:C4706610 semapv:UnspecifiedMatching +Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching +Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref MedDRA:10067467 semapv:UnspecifiedMatching Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref UMLS:C3888044 semapv:UnspecifiedMatching +Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref icd11:FB51.Y semapv:UnspecifiedMatching Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref UMLS:C4304307 semapv:UnspecifiedMatching Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref OMIM:611556 semapv:UnspecifiedMatching Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C4510752 semapv:UnspecifiedMatching Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching @@ -2151,11 +2517,15 @@ Orphanet:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref ICD10:Q Orphanet:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching Orphanet:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref UMLS:C4303970 semapv:UnspecifiedMatching Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref OMIM:611926 semapv:UnspecifiedMatching Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C4302919 semapv:UnspecifiedMatching Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4302813 semapv:UnspecifiedMatching +Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref UMLS:C4706676 semapv:UnspecifiedMatching @@ -2169,10 +2539,13 @@ Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDb Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref MESH:C564254 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref UMLS:C1842180 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching +Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref UMLS:C0339288 semapv:UnspecifiedMatching Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref icd11:9A78.4 semapv:UnspecifiedMatching Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref MESH:C535584 semapv:UnspecifiedMatching Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:212080 semapv:UnspecifiedMatching Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:500000 semapv:UnspecifiedMatching @@ -2188,9 +2561,12 @@ Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation d Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref OMIM:609060 semapv:UnspecifiedMatching Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref UMLS:C4707239 semapv:UnspecifiedMatching +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching +Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref ICD10:N85.6 semapv:UnspecifiedMatching Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref ICD10:N85.6 semapv:UnspecifiedMatching Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref MedDRA:10053868 semapv:UnspecifiedMatching Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref UMLS:C0156372 semapv:UnspecifiedMatching +Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref icd11:GA16.2 semapv:UnspecifiedMatching Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching @@ -2212,34 +2588,41 @@ Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref MESH:C564369 semapv:UnspecifiedMatching Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref OMIM:607598 semapv:UnspecifiedMatching Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref UMLS:C1843478 semapv:UnspecifiedMatching +Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref MESH:C566961 semapv:UnspecifiedMatching Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref OMIM:611369 semapv:UnspecifiedMatching Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref OMIM:614915 semapv:UnspecifiedMatching Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref UMLS:C1969655 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref MESH:C562642 semapv:UnspecifiedMatching Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10011659 semapv:UnspecifiedMatching Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C0268397 semapv:UnspecifiedMatching Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10056953 semapv:UnspecifiedMatching Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C4274331 semapv:UnspecifiedMatching Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref UMLS:C0544839 semapv:UnspecifiedMatching Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref MESH:D001100 semapv:UnspecifiedMatching Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref MedDRA:10003074 semapv:UnspecifiedMatching Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref OMIM:182950 semapv:UnspecifiedMatching Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref UMLS:C0003708 semapv:UnspecifiedMatching Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref icd11:8E40.3 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.0 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.0 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.1 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.1 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.2 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.2 semapv:UnspecifiedMatching @@ -2257,12 +2640,19 @@ Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.9 semapv: Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.9 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref UMLS:C0404545 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.C semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.C0 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.C1 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.C2 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.C3 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.CY semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.D semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.D0 semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.DY semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.E semapv:UnspecifiedMatching Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.F semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.G semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.H semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.Y semapv:UnspecifiedMatching Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref OMIM:300486 semapv:UnspecifiedMatching @@ -2275,6 +2665,7 @@ Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:Un Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS:C1855305 semapv:UnspecifiedMatching Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref ICD10:J03.8 semapv:UnspecifiedMatching +Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref ICD10:J03.8 semapv:UnspecifiedMatching Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MESH:D057831 semapv:UnspecifiedMatching Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MedDRA:10065552 semapv:UnspecifiedMatching Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref UMLS:C0343525 semapv:UnspecifiedMatching @@ -2287,12 +2678,14 @@ Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semap Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref UMLS:C0393551 semapv:UnspecifiedMatching Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref icd11:8B60.7 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref MESH:C538270 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:602483 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:612798 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:614669 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:615706 semapv:UnspecifiedMatching Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref UMLS:C1865295 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref MESH:C562903 semapv:UnspecifiedMatching @@ -2304,12 +2697,14 @@ Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement- Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref MESH:C567009 semapv:UnspecifiedMatching Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref OMIM:611105 semapv:UnspecifiedMatching Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref UMLS:C1970180 semapv:UnspecifiedMatching +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:137905 Syndromic optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C5680629 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref MESH:C567126 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref OMIM:611719 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref UMLS:C2673642 semapv:UnspecifiedMatching +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:137914 Choanal atresia oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching @@ -2318,11 +2713,14 @@ Orphanet:137914 Choanal atresia oboInOwl:hasDbXref MESH:D002754 semapv:Unspecifi Orphanet:137914 Choanal atresia oboInOwl:hasDbXref MedDRA:10008587 semapv:UnspecifiedMatching Orphanet:137914 Choanal atresia oboInOwl:hasDbXref OMIM:608911 semapv:UnspecifiedMatching Orphanet:137914 Choanal atresia oboInOwl:hasDbXref UMLS:C0008297 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref icd11:LA70.2 semapv:UnspecifiedMatching Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref UMLS:C5680630 semapv:UnspecifiedMatching +Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref icd11:LA70.2 semapv:UnspecifiedMatching Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref icd11:LA70.2 semapv:UnspecifiedMatching Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref UMLS:C4706521 semapv:UnspecifiedMatching @@ -2333,6 +2731,7 @@ Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref ICD10:J38.0 semapv Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref MedDRA:10087175 semapv:UnspecifiedMatching Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref UMLS:C0396058 semapv:UnspecifiedMatching +Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref UMLS:C3839574 semapv:UnspecifiedMatching @@ -2342,6 +2741,7 @@ Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref MESH:D058747 semapv:UnspecifiedM Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref MedDRA:10064063 semapv:UnspecifiedMatching Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref OMIM:214800 semapv:UnspecifiedMatching Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref UMLS:C0265354 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref MESH:C536216 semapv:UnspecifiedMatching @@ -2361,12 +2761,14 @@ Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref MESH:C536626 semapv:UnspecifiedMatching Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931269 semapv:UnspecifiedMatching +Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref MESH:C536028 semapv:UnspecifiedMatching Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref OMIM:212720 semapv:UnspecifiedMatching Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref OMIM:619420 semapv:UnspecifiedMatching Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796037 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref MESH:C535347 semapv:UnspecifiedMatching @@ -2384,6 +2786,7 @@ Orphanet:139 CHILD syndrome oboInOwl:hasDbXref MESH:C562515 semapv:UnspecifiedMa Orphanet:139 CHILD syndrome oboInOwl:hasDbXref MedDRA:10081963 semapv:UnspecifiedMatching Orphanet:139 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 semapv:UnspecifiedMatching Orphanet:139 CHILD syndrome oboInOwl:hasDbXref UMLS:C0265267 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5679607 semapv:UnspecifiedMatching @@ -2393,6 +2796,7 @@ Orphanet:139021 Malformation syndrome with short stature oboInOwl:hasDbXref UMLS Orphanet:139024 Overgrowth/obesity syndrome oboInOwl:hasDbXref UMLS:C5680619 semapv:UnspecifiedMatching Orphanet:139027 Rare developmental defect with skin/mucosae involvement oboInOwl:hasDbXref UMLS:C5680621 semapv:UnspecifiedMatching Orphanet:139030 Rare developmental defect with connective tissue involvement oboInOwl:hasDbXref UMLS:C5680622 semapv:UnspecifiedMatching +Orphanet:139033 Progeroid syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:139036 Branchial arch or oral-acral syndrome oboInOwl:hasDbXref UMLS:C5680620 semapv:UnspecifiedMatching Orphanet:139039 Orofacial clefting syndrome oboInOwl:hasDbXref UMLS:C5680616 semapv:UnspecifiedMatching Orphanet:139042 Malformation syndrome with odontal and/or periodontal component oboInOwl:hasDbXref UMLS:C5680617 semapv:UnspecifiedMatching @@ -2402,24 +2806,34 @@ Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref MESH:C562538 se Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref MedDRA:10088264 semapv:UnspecifiedMatching Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref OMIM:117650 semapv:UnspecifiedMatching Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS:C0265342 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:139393 Syndromic craniosynostosis oboInOwl:hasDbXref UMLS:C5680624 semapv:UnspecifiedMatching Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching +Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching +Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref UMLS:C1527231 semapv:UnspecifiedMatching +Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref MESH:C565862 semapv:UnspecifiedMatching Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref OMIM:616994 semapv:UnspecifiedMatching Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref UMLS:C1859252 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref ICD10:T78.4 semapv:UnspecifiedMatching Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref ICD10:T78.4 semapv:UnspecifiedMatching Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref MedDRA:10073508 semapv:UnspecifiedMatching Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref UMLS:C3541994 semapv:UnspecifiedMatching +Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref icd11:EH65 semapv:UnspecifiedMatching +Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref UMLS:C4303785 semapv:UnspecifiedMatching +Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:139411 Carney triad oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:139411 Carney triad oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:139411 Carney triad oboInOwl:hasDbXref MESH:C565803 semapv:UnspecifiedMatching @@ -2432,27 +2846,35 @@ Orphanet:139414 Congenital panfollicular nevus oboInOwl:hasDbXref UMLS:C4476799 Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref UMLS:C0270627 semapv:UnspecifiedMatching +Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref icd11:8A41.0 semapv:UnspecifiedMatching Orphanet:139423 Idiopathic acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching Orphanet:139423 Idiopathic acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:139423 Idiopathic acute transverse myelitis oboInOwl:hasDbXref icd11:8A41.0 semapv:UnspecifiedMatching +Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref UMLS:C4707846 semapv:UnspecifiedMatching Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref MedDRA:10084303 semapv:UnspecifiedMatching Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref UMLS:C4274731 semapv:UnspecifiedMatching Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref MedDRA:10070595 semapv:UnspecifiedMatching Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS:C0311284 semapv:UnspecifiedMatching Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:612438 semapv:UnspecifiedMatching Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:617899 semapv:UnspecifiedMatching Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref UMLS:C4304744 semapv:UnspecifiedMatching Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref UMLS:C4304840 semapv:UnspecifiedMatching Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching @@ -2470,6 +2892,7 @@ Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref MESH:C567517 semapv:Unspecifi Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref OMIM:611812 semapv:UnspecifiedMatching Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref UMLS:C2678492 semapv:UnspecifiedMatching Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref MESH:C566440 semapv:UnspecifiedMatching Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref OMIM:607932 semapv:UnspecifiedMatching Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref UMLS:C1864689 semapv:UnspecifiedMatching @@ -2477,6 +2900,7 @@ Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:618874 semapv:UnspecifiedMatching Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C3495679 semapv:UnspecifiedMatching +Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching @@ -2485,14 +2909,18 @@ Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXre Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref MESH:C567433 semapv:UnspecifiedMatching Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref OMIM:612020 semapv:UnspecifiedMatching Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref UMLS:C2677586 semapv:UnspecifiedMatching +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref MESH:C567436 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:612016 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:619028 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref UMLS:C2677589 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref MESH:C537904 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref OMIM:601195 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref UMLS:C0268063 semapv:UnspecifiedMatching @@ -2502,6 +2930,7 @@ Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref ICD10:G60. Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref UMLS:C4509933 semapv:UnspecifiedMatching Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref icd11:LD2H.1 semapv:UnspecifiedMatching Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref MESH:C566984 semapv:UnspecifiedMatching Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref OMIM:611228 semapv:UnspecifiedMatching Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref UMLS:C1970011 semapv:UnspecifiedMatching @@ -2553,6 +2982,7 @@ Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:has Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref UMLS:C4303566 semapv:UnspecifiedMatching +Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref icd11:8C21.Y semapv:UnspecifiedMatching Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref OMIM:256840 semapv:UnspecifiedMatching @@ -2561,6 +2991,7 @@ Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafne Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref OMIM:300614 semapv:UnspecifiedMatching Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref UMLS:C4304400 semapv:UnspecifiedMatching +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref icd11:8C21.Y semapv:UnspecifiedMatching Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:158580 semapv:UnspecifiedMatching @@ -2576,9 +3007,11 @@ Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref MedDRA:10008033 semapv:UnspecifiedMatching Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref UMLS:C5679606 semapv:UnspecifiedMatching Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref MESH:C535674 semapv:UnspecifiedMatching Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref OMIM:245100 semapv:UnspecifiedMatching Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref UMLS:C0796136 semapv:UnspecifiedMatching +Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:UnspecifiedMatching @@ -2586,12 +3019,15 @@ Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 semapv:Unspecifi Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:605019 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:615558 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref UMLS:C0000744 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref icd11:5C81.1 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref MESH:D055036 semapv:UnspecifiedMatching Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:114290 semapv:UnspecifiedMatching Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:211990 semapv:UnspecifiedMatching Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:602196 semapv:UnspecifiedMatching Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861922 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref MESH:C538074 semapv:UnspecifiedMatching @@ -2602,6 +3038,7 @@ Orphanet:140162 Inherited cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref UMLS:C4305428 semapv:UnspecifiedMatching +Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref icd11:5A50.01 semapv:UnspecifiedMatching Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref MESH:C564648 semapv:UnspecifiedMatching @@ -2620,9 +3057,11 @@ Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl: Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C5548369 semapv:UnspecifiedMatching Orphanet:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching Orphanet:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C0027889 semapv:UnspecifiedMatching +Orphanet:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref icd11:8C21 semapv:UnspecifiedMatching Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C5680674 semapv:UnspecifiedMatching Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C5680675 semapv:UnspecifiedMatching Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref MESH:C564269 semapv:UnspecifiedMatching Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref OMIM:608236 semapv:UnspecifiedMatching Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref UMLS:C1842357 semapv:UnspecifiedMatching @@ -2635,9 +3074,11 @@ Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome oboI Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1856241 semapv:UnspecifiedMatching Orphanet:140874 Joubert syndrome and related disorders oboInOwl:hasDbXref UMLS:C5679612 semapv:UnspecifiedMatching Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref ICD10:U04.9 semapv:UnspecifiedMatching +Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref ICD10:U04.9 semapv:UnspecifiedMatching Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MESH:D045169 semapv:UnspecifiedMatching Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MedDRA:10061982 semapv:UnspecifiedMatching Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref UMLS:C1175175 semapv:UnspecifiedMatching +Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref icd11:1D65 semapv:UnspecifiedMatching Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref MESH:C536746 semapv:UnspecifiedMatching Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref OMIM:278200 semapv:UnspecifiedMatching Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref UMLS:C0406718 semapv:UnspecifiedMatching @@ -2646,6 +3087,7 @@ Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614025 semapv:UnspecifiedMatching Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref UMLS:C3151466 semapv:UnspecifiedMatching Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref UMLS:C1969652 semapv:UnspecifiedMatching Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching @@ -2655,14 +3097,17 @@ Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref O Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref UMLS:C1866656 semapv:UnspecifiedMatching Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref MESH:C563854 semapv:UnspecifiedMatching Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref OMIM:608807 semapv:UnspecifiedMatching Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref UMLS:C1837342 semapv:UnspecifiedMatching Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref UMLS:C1274753 semapv:UnspecifiedMatching +Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref icd11:EB61.Y semapv:UnspecifiedMatching Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref MESH:C564261 semapv:UnspecifiedMatching @@ -2673,12 +3118,17 @@ Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboI Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref OMIM:615961 semapv:UnspecifiedMatching Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref UMLS:C4303612 semapv:UnspecifiedMatching +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref MESH:C567863 semapv:UnspecifiedMatching Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref OMIM:612918 semapv:UnspecifiedMatching Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref UMLS:C2752042 semapv:UnspecifiedMatching +Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:140949 Low-flow priapism oboInOwl:hasDbXref ICD10:N48.3 semapv:UnspecifiedMatching Orphanet:140949 Low-flow priapism oboInOwl:hasDbXref ICD10:N48.3 semapv:UnspecifiedMatching Orphanet:140949 Low-flow priapism oboInOwl:hasDbXref UMLS:C2711256 semapv:UnspecifiedMatching +Orphanet:140949 Low-flow priapism oboInOwl:hasDbXref icd11:GB06.1 semapv:UnspecifiedMatching Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref MESH:C567475 semapv:UnspecifiedMatching @@ -2697,15 +3147,19 @@ Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDb Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref OMIM:612290 semapv:UnspecifiedMatching Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref UMLS:C4303551 semapv:UnspecifiedMatching +Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref OMIM:615598 semapv:UnspecifiedMatching Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref UMLS:C3810072 semapv:UnspecifiedMatching Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref MESH:C535463 semapv:UnspecifiedMatching Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:266920 semapv:UnspecifiedMatching Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref UMLS:C1849437 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref MESH:C537612 semapv:UnspecifiedMatching @@ -2713,10 +3167,14 @@ Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref OMIM:602152 semapv:Unspecified Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref UMLS:C1865794 semapv:UnspecifiedMatching Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching +Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MESH:C535276 semapv:UnspecifiedMatching Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref UMLS:C2930862 semapv:UnspecifiedMatching +Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref icd11:4A44.7 semapv:UnspecifiedMatching Orphanet:140997 Orofaciodigital syndrome oboInOwl:hasDbXref MESH:D009958 semapv:UnspecifiedMatching Orphanet:140997 Orofaciodigital syndrome oboInOwl:hasDbXref UMLS:C0029294 semapv:UnspecifiedMatching +Orphanet:140997 Orofaciodigital syndrome oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:141 Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:141 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching Orphanet:141 Canavan disease oboInOwl:hasDbXref MedDRA:10067608 semapv:UnspecifiedMatching @@ -2736,14 +3194,17 @@ Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref ICD10:Q87.0 Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref MESH:C557821 semapv:UnspecifiedMatching Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref OMIM:612913 semapv:UnspecifiedMatching Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref UMLS:C2752048 semapv:UnspecifiedMatching +Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref MESH:C557818 semapv:UnspecifiedMatching Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref OMIM:258865 semapv:UnspecifiedMatching Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref UMLS:C0796102 semapv:UnspecifiedMatching +Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref UMLS:C3874320 semapv:UnspecifiedMatching +Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref icd11:LA6Y semapv:UnspecifiedMatching Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref OMIM:113600 semapv:UnspecifiedMatching @@ -2761,31 +3222,46 @@ Orphanet:141051 Facial dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:Unspec Orphanet:141051 Facial dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141051 Facial dermoid cyst oboInOwl:hasDbXref UMLS:C4706321 semapv:UnspecifiedMatching Orphanet:141061 Commissural lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching +Orphanet:141061 Commissural lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching Orphanet:141061 Commissural lip fistula oboInOwl:hasDbXref UMLS:C5680634 semapv:UnspecifiedMatching +Orphanet:141061 Commissural lip fistula oboInOwl:hasDbXref icd11:LA5Y semapv:UnspecifiedMatching +Orphanet:141064 Lower lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching Orphanet:141064 Lower lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching Orphanet:141064 Lower lip fistula oboInOwl:hasDbXref UMLS:C1274792 semapv:UnspecifiedMatching +Orphanet:141064 Lower lip fistula oboInOwl:hasDbXref icd11:LA5Y semapv:UnspecifiedMatching Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref UMLS:C5231314 semapv:UnspecifiedMatching +Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref icd11:LA6Y semapv:UnspecifiedMatching Orphanet:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref UMLS:C4512051 semapv:UnspecifiedMatching Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching +Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref OMIM:108760 semapv:UnspecifiedMatching Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref OMIM:607842 semapv:UnspecifiedMatching Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C0266597 semapv:UnspecifiedMatching +Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref icd11:LA22.2 semapv:UnspecifiedMatching Orphanet:141077 Epignathus oboInOwl:hasDbXref ICD10:D37.0 semapv:UnspecifiedMatching Orphanet:141077 Epignathus oboInOwl:hasDbXref ICD10:D37.0 semapv:UnspecifiedMatching Orphanet:141077 Epignathus oboInOwl:hasDbXref UMLS:C0266725 semapv:UnspecifiedMatching +Orphanet:141077 Epignathus oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching +Orphanet:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref ICD10:H04.6 semapv:UnspecifiedMatching Orphanet:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref ICD10:H04.6 semapv:UnspecifiedMatching Orphanet:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref UMLS:C5575612 semapv:UnspecifiedMatching +Orphanet:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref icd11:LA14.12 semapv:UnspecifiedMatching +Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref UMLS:C4274730 semapv:UnspecifiedMatching Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref icd11:LA70 semapv:UnspecifiedMatching Orphanet:141096 Supernumerary nostril oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141096 Supernumerary nostril oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141096 Supernumerary nostril oboInOwl:hasDbXref UMLS:C4021372 semapv:UnspecifiedMatching +Orphanet:141096 Supernumerary nostril oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching +Orphanet:141099 Proboscis lateralis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141099 Proboscis lateralis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141099 Proboscis lateralis oboInOwl:hasDbXref UMLS:C4274985 semapv:UnspecifiedMatching +Orphanet:141099 Proboscis lateralis oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref OMIM:600679 semapv:UnspecifiedMatching @@ -2793,37 +3269,53 @@ Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref UMLS:C5679605 semapv:Unspe Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref UMLS:C4531264 semapv:UnspecifiedMatching +Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching +Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref UMLS:C0266490 semapv:UnspecifiedMatching +Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching Orphanet:141115 Nasal ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref UMLS:C0014066 semapv:UnspecifiedMatching +Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref ICD10:Q31.1 semapv:UnspecifiedMatching Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref ICD10:Q31.1 semapv:UnspecifiedMatching Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref MedDRA:10087149 semapv:UnspecifiedMatching Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref UMLS:C0396051 semapv:UnspecifiedMatching +Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref icd11:LA71.3 semapv:UnspecifiedMatching +Orphanet:141124 Congenital laryngeal cyst oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching Orphanet:141124 Congenital laryngeal cyst oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching Orphanet:141124 Congenital laryngeal cyst oboInOwl:hasDbXref UMLS:C1393619 semapv:UnspecifiedMatching +Orphanet:141124 Congenital laryngeal cyst oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching +Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref MESH:C000715347 semapv:UnspecifiedMatching Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref OMIM:603569 semapv:UnspecifiedMatching Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref UMLS:C0265767 semapv:UnspecifiedMatching +Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref icd11:LA73.0 semapv:UnspecifiedMatching Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref MedDRA:10051934 semapv:UnspecifiedMatching +Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching Orphanet:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching +Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref OMIM:133900 semapv:UnspecifiedMatching Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref UMLS:C1399354 semapv:UnspecifiedMatching +Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref icd11:LA52 semapv:UnspecifiedMatching +Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref MESH:C535862 semapv:UnspecifiedMatching Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref OMIM:606773 semapv:UnspecifiedMatching Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref UMLS:C1847521 semapv:UnspecifiedMatching +Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref icd11:LA52 semapv:UnspecifiedMatching Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref OMIM:612776 semapv:UnspecifiedMatching Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref UMLS:C5680636 semapv:UnspecifiedMatching +Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref icd11:LA31.1 semapv:UnspecifiedMatching Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref UMLS:C4303569 semapv:UnspecifiedMatching @@ -2831,16 +3323,20 @@ Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref icd11:LD25.0Y semapv Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref UMLS:C3838993 semapv:UnspecifiedMatching +Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref UMLS:C3839810 semapv:UnspecifiedMatching +Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref UMLS:C3839452 semapv:UnspecifiedMatching +Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275417 semapv:UnspecifiedMatching Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching +Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref icd11:XH5427 semapv:UnspecifiedMatching Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275421 semapv:UnspecifiedMatching @@ -2850,22 +3346,29 @@ Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome oboInOwl:hasDbXre Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref UMLS:C3840102 semapv:UnspecifiedMatching +Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref UMLS:C3838691 semapv:UnspecifiedMatching +Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186570 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref UMLS:C1861305 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref icd11:LD26.3 semapv:UnspecifiedMatching Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref UMLS:C3839921 semapv:UnspecifiedMatching Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref icd11:2E81.10 semapv:UnspecifiedMatching Orphanet:141214 Isolated congenital syngnathia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching +Orphanet:141214 Isolated congenital syngnathia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:141214 Isolated congenital syngnathia oboInOwl:hasDbXref UMLS:C4706392 semapv:UnspecifiedMatching +Orphanet:141214 Isolated congenital syngnathia oboInOwl:hasDbXref icd11:LA5Y semapv:UnspecifiedMatching Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref UMLS:C0339853 semapv:UnspecifiedMatching +Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref icd11:LA5Y semapv:UnspecifiedMatching Orphanet:141229 Facial cleft oboInOwl:hasDbXref UMLS:C0685787 semapv:UnspecifiedMatching Orphanet:141229 Facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching @@ -2902,6 +3405,8 @@ Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref MESH:C000719407 semapv Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref UMLS:C4479645 semapv:UnspecifiedMatching Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching @@ -2915,14 +3420,17 @@ Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:608874 semapv:Uns Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref UMLS:C1298692 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref icd11:LA41 semapv:UnspecifiedMatching Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref MESH:C548034 semapv:UnspecifiedMatching Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref UMLS:C4706601 semapv:UnspecifiedMatching +Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref MESH:C548035 semapv:UnspecifiedMatching Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref UMLS:C4706602 semapv:UnspecifiedMatching +Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref MESH:C565902 semapv:UnspecifiedMatching @@ -2933,6 +3441,7 @@ Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q82.0 sem Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref MESH:C535330 semapv:UnspecifiedMatching Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C0268314 semapv:UnspecifiedMatching +Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref icd11:DB99.6Y semapv:UnspecifiedMatching Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref MESH:C535632 semapv:UnspecifiedMatching @@ -2949,6 +3458,8 @@ Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:Un Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MESH:D065646 semapv:UnspecifiedMatching Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MedDRA:10002240 semapv:UnspecifiedMatching Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238461 semapv:UnspecifiedMatching +Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref icd11:2D10.3 semapv:UnspecifiedMatching +Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref MESH:C536123 semapv:UnspecifiedMatching Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref OMIM:600092 semapv:UnspecifiedMatching @@ -2965,9 +3476,11 @@ Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref OMIM:615777 semapv:Unspecif Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref UMLS:C0432242 semapv:UnspecifiedMatching Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref MESH:C535858 semapv:UnspecifiedMatching Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C2931048 semapv:UnspecifiedMatching +Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10084407 semapv:UnspecifiedMatching @@ -2981,6 +3494,7 @@ Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:215450 semapv:Uns Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref UMLS:C0393584 semapv:UnspecifiedMatching Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref icd11:8A01.0 semapv:UnspecifiedMatching Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref ICD10:C75.0 semapv:UnspecifiedMatching +Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref ICD10:C75.0 semapv:UnspecifiedMatching Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref MESH:D010282 semapv:UnspecifiedMatching Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 semapv:UnspecifiedMatching Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0687150 semapv:UnspecifiedMatching @@ -2991,6 +3505,7 @@ Orphanet:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:Unspe Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:156590 semapv:UnspecifiedMatching Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3501946 semapv:UnspecifiedMatching Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref MESH:C535810 semapv:UnspecifiedMatching Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref UMLS:C2931026 semapv:UnspecifiedMatching Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching @@ -3000,6 +3515,7 @@ Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref MESH:C537793 semapv Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref OMIM:303110 semapv:UnspecifiedMatching Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1844836 semapv:UnspecifiedMatching Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C564101 semapv:UnspecifiedMatching Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:309620 semapv:UnspecifiedMatching Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1839729 semapv:UnspecifiedMatching @@ -3015,6 +3531,7 @@ Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv: Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref UMLS:C5201040 semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MedDRA:10051981 semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:120435 semapv:UnspecifiedMatching @@ -3066,6 +3583,8 @@ Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:U Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref MESH:C537813 semapv:UnspecifiedMatching Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref UMLS:C0795818 semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50.9 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50.9 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref MESH:D061325 semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:604370 semapv:UnspecifiedMatching @@ -3079,9 +3598,11 @@ Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:U Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref MESH:C537824 semapv:UnspecifiedMatching Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref UMLS:C4274902 semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref MedDRA:10064568 semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref UMLS:C0409818 semapv:UnspecifiedMatching +Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref icd11:4A60.1 semapv:UnspecifiedMatching Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching @@ -3104,12 +3625,15 @@ Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:61911 Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref UMLS:C1857662 semapv:UnspecifiedMatching Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref UMLS:C2930803 semapv:UnspecifiedMatching Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref UMLS:C3496579 semapv:UnspecifiedMatching Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref MESH:D001017 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref MedDRA:10009807 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref OMIM:120000 semapv:UnspecifiedMatching @@ -3130,6 +3654,7 @@ Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 sem Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref UMLS:C1337013 semapv:UnspecifiedMatching Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref MESH:C565128 semapv:UnspecifiedMatching Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615157 semapv:UnspecifiedMatching @@ -3150,12 +3675,16 @@ Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref MESH:D003420 semapv:Unspecifi Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref UMLS:C0010334 semapv:UnspecifiedMatching Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref icd11:LA81 semapv:UnspecifiedMatching Orphanet:1463 Triatrial heart oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching +Orphanet:1463 Triatrial heart oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching Orphanet:1463 Triatrial heart oboInOwl:hasDbXref MESH:D003310 semapv:UnspecifiedMatching Orphanet:1463 Triatrial heart oboInOwl:hasDbXref MedDRA:10010972 semapv:UnspecifiedMatching Orphanet:1463 Triatrial heart oboInOwl:hasDbXref UMLS:C0009995 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref ICD10:Q20.4 semapv:UnspecifiedMatching +Orphanet:1464 Univentricular heart oboInOwl:hasDbXref ICD10:Q20.4 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref MedDRA:10045545 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref UMLS:C0152424 semapv:UnspecifiedMatching +Orphanet:1464 Univentricular heart oboInOwl:hasDbXref icd11:LA89.0 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:135900 semapv:UnspecifiedMatching @@ -3173,21 +3702,27 @@ Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:619325 semapv:Unspec Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS:C0265338 semapv:UnspecifiedMatching Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref MESH:D055952 semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref MedDRA:10056667 semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref UMLS:C0271270 semapv:UnspecifiedMatching +Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref icd11:4A44.Y semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref MESH:D020165 semapv:UnspecifiedMatching Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref MedDRA:10058297 semapv:UnspecifiedMatching Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref OMIM:237300 semapv:UnspecifiedMatching Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref UMLS:C0751753 semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref icd11:5C50.A1 semapv:UnspecifiedMatching +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref MESH:C535969 semapv:UnspecifiedMatching Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref OMIM:120400 semapv:UnspecifiedMatching @@ -3206,6 +3741,7 @@ Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref OMIM:120330 semapv:Unsp Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref UMLS:C1852759 semapv:UnspecifiedMatching Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref icd11:LA13.7Y semapv:UnspecifiedMatching Orphanet:1478 Interatrial communication oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:1478 Interatrial communication oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching Orphanet:1478 Interatrial communication oboInOwl:hasDbXref MedDRA:10003664 semapv:UnspecifiedMatching Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:108800 semapv:UnspecifiedMatching @@ -3219,6 +3755,7 @@ Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614475 semapv:Un Orphanet:1478 Interatrial communication oboInOwl:hasDbXref UMLS:C0018817 semapv:UnspecifiedMatching Orphanet:1478 Interatrial communication oboInOwl:hasDbXref icd11:LA8E.Y semapv:UnspecifiedMatching Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref OMIM:108900 semapv:UnspecifiedMatching Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref UMLS:C4510872 semapv:UnspecifiedMatching Orphanet:148 Multiple carboxylase deficiency oboInOwl:hasDbXref MESH:D009100 semapv:UnspecifiedMatching @@ -3227,6 +3764,7 @@ Orphanet:148 Multiple carboxylase deficiency oboInOwl:hasDbXref UMLS:C0026755 se Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:A54.3+ semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:A54.3+ semapv:UnspecifiedMatching Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:H13.1* semapv:UnspecifiedMatching Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:H13.1* semapv:UnspecifiedMatching Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref MESH:D009878 semapv:UnspecifiedMatching @@ -3248,6 +3786,8 @@ Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref I Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref MESH:C537194 semapv:UnspecifiedMatching Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref OMIM:253310 semapv:UnspecifiedMatching Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref UMLS:C1854664 semapv:UnspecifiedMatching +Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching +Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref MESH:C537766 semapv:UnspecifiedMatching Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref OMIM:106995 semapv:UnspecifiedMatching @@ -3258,6 +3798,8 @@ Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspeci Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref OMIM:209770 semapv:UnspecifiedMatching Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref UMLS:C4303864 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.0 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.0 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.1 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.1 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.8 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.8 semapv:UnspecifiedMatching @@ -3266,20 +3808,27 @@ Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.9 semapv:UnspecifiedMa Orphanet:1489 Whooping cough oboInOwl:hasDbXref MESH:D014917 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref MedDRA:10047974 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref UMLS:C0043167 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref icd11:1C12 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref icd11:1C12.0 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref icd11:1C12.1 semapv:UnspecifiedMatching Orphanet:1489 Whooping cough oboInOwl:hasDbXref icd11:1C12.Y semapv:UnspecifiedMatching Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MESH:C535473 semapv:UnspecifiedMatching Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref OMIM:217400 semapv:UnspecifiedMatching Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS:C1857572 semapv:UnspecifiedMatching +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1493 Vici syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1493 Vici syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1493 Vici syndrome oboInOwl:hasDbXref MESH:C535566 semapv:UnspecifiedMatching Orphanet:1493 Vici syndrome oboInOwl:hasDbXref OMIM:242840 semapv:UnspecifiedMatching Orphanet:1493 Vici syndrome oboInOwl:hasDbXref UMLS:C1855772 semapv:UnspecifiedMatching +Orphanet:1493 Vici syndrome oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref UMLS:C4302530 semapv:UnspecifiedMatching Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref MESH:C536446 semapv:UnspecifiedMatching Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref OMIM:218000 semapv:UnspecifiedMatching Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref UMLS:C0795950 semapv:UnspecifiedMatching @@ -3290,14 +3839,20 @@ Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref UMLS:C1839909 semapv:UnspecifiedMatching Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching Orphanet:15 Achondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching Orphanet:15 Achondroplasia oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching Orphanet:15 Achondroplasia oboInOwl:hasDbXref MedDRA:10000452 semapv:UnspecifiedMatching Orphanet:15 Achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching Orphanet:15 Achondroplasia oboInOwl:hasDbXref UMLS:C0001080 semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref icd11:LD24.00 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.0 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.0 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.1 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.1 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.2 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.2 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.3 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.3 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MESH:D000077274 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MedDRA:10028793 semapv:UnspecifiedMatching Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:161550 semapv:UnspecifiedMatching @@ -3314,16 +3869,20 @@ Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref UMLS:C0206686 semapv:U Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref icd11:2D11.Z semapv:UnspecifiedMatching Orphanet:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref MESH:D012779 semapv:UnspecifiedMatching Orphanet:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref UMLS:C0036996 semapv:UnspecifiedMatching +Orphanet:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref icd11:LD24.B0 semapv:UnspecifiedMatching +Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref MESH:C537595 semapv:UnspecifiedMatching Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C2931543 semapv:UnspecifiedMatching Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref MESH:C535863 semapv:UnspecifiedMatching Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:UnspecifiedMatching Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:618529 semapv:UnspecifiedMatching Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref UMLS:C1849334 semapv:UnspecifiedMatching Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref MESH:C565148 semapv:UnspecifiedMatching Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref OMIM:122780 semapv:UnspecifiedMatching Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref UMLS:C1852513 semapv:UnspecifiedMatching @@ -3334,6 +3893,8 @@ Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref MESH:C535540 semapv:U Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref MedDRA:10086423 semapv:UnspecifiedMatching Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 semapv:UnspecifiedMatching Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1840061 semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref icd11:LD24.JY semapv:UnspecifiedMatching +Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref MESH:C536452 semapv:UnspecifiedMatching Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref OMIM:218090 semapv:UnspecifiedMatching @@ -3351,6 +3912,7 @@ Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref OMIM:312860 semapv:UnspecifiedMatching Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1839311 semapv:UnspecifiedMatching Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:218330 semapv:UnspecifiedMatching Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:613610 semapv:UnspecifiedMatching Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:614099 semapv:UnspecifiedMatching @@ -3374,6 +3936,7 @@ Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q8 Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref OMIM:145420 semapv:UnspecifiedMatching Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref UMLS:C0796179 semapv:UnspecifiedMatching Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref UMLS:C0220767 semapv:UnspecifiedMatching @@ -3392,24 +3955,30 @@ Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:Un Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref MESH:C566522 semapv:UnspecifiedMatching Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref OMIM:602558 semapv:UnspecifiedMatching Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref UMLS:C1865184 semapv:UnspecifiedMatching +Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching +Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref UMLS:C2678439 semapv:UnspecifiedMatching +Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref icd11:FB86.10 semapv:UnspecifiedMatching Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref MESH:C563368 semapv:UnspecifiedMatching Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref UMLS:C1832590 semapv:UnspecifiedMatching +Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref MESH:C535597 semapv:UnspecifiedMatching Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref OMIM:218670 semapv:UnspecifiedMatching Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref UMLS:C1857471 semapv:UnspecifiedMatching +Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref OMIM:122880 semapv:UnspecifiedMatching Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS:C1852510 semapv:UnspecifiedMatching +Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref MESH:D003398 semapv:UnspecifiedMatching @@ -3424,10 +3993,12 @@ Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref UMLS:C0795959 Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C4304196 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:600884 semapv:UnspecifiedMatching @@ -3481,22 +4052,29 @@ Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref MESH:C537559 semapv:Unsp Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref OMIM:123150 semapv:UnspecifiedMatching Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS:C0795998 semapv:UnspecifiedMatching Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref MESH:C565753 semapv:UnspecifiedMatching Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref OMIM:604757 semapv:UnspecifiedMatching Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref UMLS:C1858160 semapv:UnspecifiedMatching +Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref UMLS:C4275141 semapv:UnspecifiedMatching Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref MESH:C536214 semapv:UnspecifiedMatching Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref UMLS:C1832409 semapv:UnspecifiedMatching Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.0 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.0 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.1 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.1 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.2 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.2 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.3 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.3 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.7 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.7 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.8 semapv:UnspecifiedMatching @@ -3507,9 +4085,11 @@ Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref MESH:D003453 semapv:UnspecifiedM Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref MedDRA:10011490 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref UMLS:C0010414 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1D01.10 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.0 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.1 semapv:UnspecifiedMatching Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.2 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.Y semapv:UnspecifiedMatching Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref MESH:C536219 semapv:UnspecifiedMatching @@ -3548,9 +4128,11 @@ Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInO Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1852406 semapv:UnspecifiedMatching Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref MESH:C536226 semapv:UnspecifiedMatching Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref OMIM:219250 semapv:UnspecifiedMatching Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref UMLS:C0345419 semapv:UnspecifiedMatching +Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref icd11:LC52 semapv:UnspecifiedMatching Orphanet:1557 Cutis verticis gyrata-intellectual disability syndrome oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching Orphanet:155832 Rare head and neck malformation oboInOwl:hasDbXref UMLS:C5680631 semapv:UnspecifiedMatching Orphanet:155835 Cysts and fistulae of the face and oral cavity oboInOwl:hasDbXref UMLS:C5680632 semapv:UnspecifiedMatching @@ -3562,20 +4144,30 @@ Orphanet:155867 Paramedian facial cleft oboInOwl:hasDbXref UMLS:C4703416 semapv: Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref ICD10:Q35.9 semapv:UnspecifiedMatching Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref ICD10:Q35.9 semapv:UnspecifiedMatching Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref UMLS:C4551487 semapv:UnspecifiedMatching +Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref icd11:LA4Y semapv:UnspecifiedMatching +Orphanet:155884 Coloboma of superior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:155884 Coloboma of superior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:155884 Coloboma of superior eyelid oboInOwl:hasDbXref UMLS:C1863872 semapv:UnspecifiedMatching Orphanet:155889 Coloboma of inferior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:155889 Coloboma of inferior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:155889 Coloboma of inferior eyelid oboInOwl:hasDbXref UMLS:C1837826 semapv:UnspecifiedMatching Orphanet:155896 Otomandibular dysplasia oboInOwl:hasDbXref UMLS:C5680658 semapv:UnspecifiedMatching +Orphanet:155896 Otomandibular dysplasia oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching +Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MESH:D008342 semapv:UnspecifiedMatching Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MedDRA:10051456 semapv:UnspecifiedMatching Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref UMLS:C0242387 semapv:UnspecifiedMatching +Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref MESH:C535588 semapv:UnspecifiedMatching Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref OMIM:255120 semapv:UnspecifiedMatching Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref UMLS:C1829703 semapv:UnspecifiedMatching +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.0 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.0 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.1 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.1 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.8 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.8 semapv:UnspecifiedMatching @@ -3587,13 +4179,16 @@ Orphanet:1560 Cysticercosis oboInOwl:hasDbXref UMLS:C0010678 semapv:UnspecifiedM Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.0 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.00 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.1 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.Y semapv:UnspecifiedMatching Orphanet:156005 Primary early-onset glaucoma oboInOwl:hasDbXref UMLS:C5680656 semapv:UnspecifiedMatching Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:604377 semapv:UnspecifiedMatching Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:615119 semapv:UnspecifiedMatching Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616500 semapv:UnspecifiedMatching Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616501 semapv:UnspecifiedMatching Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C4273730 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching Orphanet:156140 Predominantly large-vessel vasculitis oboInOwl:hasDbXref UMLS:C5680657 semapv:UnspecifiedMatching Orphanet:156143 Predominantly medium-vessel vasculitis oboInOwl:hasDbXref UMLS:C5680654 semapv:UnspecifiedMatching Orphanet:156146 Predominantly small-vessel vasculitis oboInOwl:hasDbXref UMLS:C5680653 semapv:UnspecifiedMatching @@ -3624,9 +4219,11 @@ Orphanet:156207 Macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMa Orphanet:156207 Macroglossia oboInOwl:hasDbXref MESH:D008260 semapv:UnspecifiedMatching Orphanet:156207 Macroglossia oboInOwl:hasDbXref MedDRA:10025391 semapv:UnspecifiedMatching Orphanet:156207 Macroglossia oboInOwl:hasDbXref UMLS:C0024421 semapv:UnspecifiedMatching +Orphanet:156207 Macroglossia oboInOwl:hasDbXref icd11:DA03.5 semapv:UnspecifiedMatching Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref UMLS:C5680662 semapv:UnspecifiedMatching +Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref icd11:LA31.1 semapv:UnspecifiedMatching Orphanet:156215 Oromandibular-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C5680663 semapv:UnspecifiedMatching Orphanet:156215 Oromandibular-limb anomalies syndrome oboInOwl:hasDbXref icd11:LD25.0 semapv:UnspecifiedMatching Orphanet:156224 Paralytic facial malformation oboInOwl:hasDbXref UMLS:C5680664 semapv:UnspecifiedMatching @@ -3664,6 +4261,7 @@ Orphanet:156629 Rare genetic cause of hypertension oboInOwl:hasDbXref UMLS:C5680 Orphanet:156638 Rare genetic endocrine disease oboInOwl:hasDbXref UMLS:C5680638 semapv:UnspecifiedMatching Orphanet:156643 Genetic endocrine growth disease oboInOwl:hasDbXref UMLS:C5680637 semapv:UnspecifiedMatching Orphanet:156723 Piepkorn dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:156723 Piepkorn dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref MESH:C563869 semapv:UnspecifiedMatching @@ -3686,14 +4284,18 @@ Orphanet:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref MESH:C535992 sema Orphanet:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref OMIM:278800 semapv:UnspecifiedMatching Orphanet:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref UMLS:C0265201 semapv:UnspecifiedMatching Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MESH:C535589 semapv:UnspecifiedMatching Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS:C0342790 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching +Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref MESH:C538062 semapv:UnspecifiedMatching Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref UMLS:C2931719 semapv:UnspecifiedMatching +Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref icd11:LB75.2 semapv:UnspecifiedMatching Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref MESH:C537209 semapv:UnspecifiedMatching @@ -3706,6 +4308,8 @@ Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.0 se Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.1 semapv:UnspecifiedMatching Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.1 semapv:UnspecifiedMatching Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.2 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.2 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.8 semapv:UnspecifiedMatching Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.8 semapv:UnspecifiedMatching Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.9 semapv:UnspecifiedMatching Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.9 semapv:UnspecifiedMatching @@ -3724,9 +4328,11 @@ Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:616576 se Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref UMLS:C0009447 semapv:UnspecifiedMatching Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref MESH:C562793 semapv:UnspecifiedMatching Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref OMIM:241530 semapv:UnspecifiedMatching Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref UMLS:C1853271 semapv:UnspecifiedMatching +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref icd11:5C63.22 semapv:UnspecifiedMatching Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref MESH:C537698 semapv:UnspecifiedMatching @@ -3738,23 +4344,28 @@ Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasD Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref MESH:C538364 semapv:UnspecifiedMatching Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref OMIM:267760 semapv:UnspecifiedMatching Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref UMLS:C2931831 semapv:UnspecifiedMatching +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref icd11:9E1Y semapv:UnspecifiedMatching Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref MESH:C537500 semapv:UnspecifiedMatching Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C0795996 semapv:UnspecifiedMatching Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref UMLS:C5680650 semapv:UnspecifiedMatching Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref UMLS:C5680648 semapv:UnspecifiedMatching Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref UMLS:C5680649 semapv:UnspecifiedMatching Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching +Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref MedDRA:10059119 semapv:UnspecifiedMatching Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref UMLS:C0266642 semapv:UnspecifiedMatching Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -3765,6 +4376,7 @@ Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref MESH:D018323 semapv:UnspecifiedMatching Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref UMLS:C0206732 semapv:UnspecifiedMatching +Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref icd11:2B5Y semapv:UnspecifiedMatching Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref icd11:XH9GF8 semapv:UnspecifiedMatching Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching @@ -3790,12 +4402,17 @@ Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInO Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref OMIM:609432 semapv:UnspecifiedMatching Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref UMLS:C1836206 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching +Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref UMLS:C5190522 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:610313 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:617055 semapv:UnspecifiedMatching +Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref icd11:8C21.Y semapv:UnspecifiedMatching +Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MESH:D020232 semapv:UnspecifiedMatching Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MedDRA:10066431 semapv:UnspecifiedMatching @@ -3803,16 +4420,22 @@ Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref UMLS:C0270707 semapv:Un Orphanet:157826 Congenital epulis oboInOwl:hasDbXref ICD10:K06.8 semapv:UnspecifiedMatching Orphanet:157826 Congenital epulis oboInOwl:hasDbXref ICD10:K06.8 semapv:UnspecifiedMatching Orphanet:157826 Congenital epulis oboInOwl:hasDbXref UMLS:C0376319 semapv:UnspecifiedMatching +Orphanet:157826 Congenital epulis oboInOwl:hasDbXref icd11:KC23 semapv:UnspecifiedMatching +Orphanet:157832 Craniorhiny oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:157832 Craniorhiny oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:157832 Craniorhiny oboInOwl:hasDbXref MESH:C565144 semapv:UnspecifiedMatching Orphanet:157832 Craniorhiny oboInOwl:hasDbXref OMIM:123050 semapv:UnspecifiedMatching Orphanet:157832 Craniorhiny oboInOwl:hasDbXref UMLS:C1852501 semapv:UnspecifiedMatching +Orphanet:157832 Craniorhiny oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching +Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MESH:D051302 semapv:UnspecifiedMatching Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MedDRA:10019461 semapv:UnspecifiedMatching Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref UMLS:C1399352 semapv:UnspecifiedMatching +Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref icd11:8A82 semapv:UnspecifiedMatching Orphanet:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref MESH:D051303 semapv:UnspecifiedMatching Orphanet:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref UMLS:C1565172 semapv:UnspecifiedMatching +Orphanet:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref icd11:8A82 semapv:UnspecifiedMatching Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref MESH:C548080 semapv:UnspecifiedMatching @@ -3830,18 +4453,23 @@ Orphanet:157855 HARP syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedM Orphanet:157855 HARP syndrome oboInOwl:hasDbXref OMIM:607236 semapv:UnspecifiedMatching Orphanet:157855 HARP syndrome oboInOwl:hasDbXref UMLS:C1846582 semapv:UnspecifiedMatching Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref MESH:C566398 semapv:UnspecifiedMatching Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref UMLS:C1864112 semapv:UnspecifiedMatching +Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref icd11:8A01.11 semapv:UnspecifiedMatching +Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref MESH:C565747 semapv:UnspecifiedMatching Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref OMIM:604802 semapv:UnspecifiedMatching Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref UMLS:C1858114 semapv:UnspecifiedMatching +Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref icd11:8A01.11 semapv:UnspecifiedMatching Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref OMIM:233650 semapv:UnspecifiedMatching Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref UMLS:C5191061 semapv:UnspecifiedMatching Orphanet:157954 ANE syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:157954 ANE syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:157954 ANE syndrome oboInOwl:hasDbXref MESH:C567425 semapv:UnspecifiedMatching Orphanet:157954 ANE syndrome oboInOwl:hasDbXref OMIM:612079 semapv:UnspecifiedMatching Orphanet:157954 ANE syndrome oboInOwl:hasDbXref UMLS:C2677535 semapv:UnspecifiedMatching @@ -3854,14 +4482,20 @@ Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboIn Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C567340 semapv:UnspecifiedMatching Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:612350 semapv:UnspecifiedMatching Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2676510 semapv:UnspecifiedMatching +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref MESH:C567708 semapv:UnspecifiedMatching Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref OMIM:613205 semapv:UnspecifiedMatching Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref UMLS:C2750785 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching @@ -3875,45 +4509,64 @@ Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67. Orphanet:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching Orphanet:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019624 semapv:UnspecifiedMatching Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref UMLS:C0347404 semapv:UnspecifiedMatching +Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref icd11:EE81 semapv:UnspecifiedMatching +Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref UMLS:C0347403 semapv:UnspecifiedMatching +Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref icd11:EE81 semapv:UnspecifiedMatching +Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref MESH:C536778 semapv:UnspecifiedMatching Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref OMIM:212140 semapv:UnspecifiedMatching Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref UMLS:C0342788 semapv:UnspecifiedMatching +Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref OMIM:601362 semapv:UnspecifiedMatching Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref UMLS:C4304502 semapv:UnspecifiedMatching +Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref icd11:LD44.A1 semapv:UnspecifiedMatching +Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 semapv:UnspecifiedMatching Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref UMLS:C0043324 semapv:UnspecifiedMatching Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref icd11:2B31.0 semapv:UnspecifiedMatching Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref MedDRA:10052575 semapv:UnspecifiedMatching Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref UMLS:C0043322 semapv:UnspecifiedMatching +Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref icd11:EE81 semapv:UnspecifiedMatching +Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref UMLS:C4707373 semapv:UnspecifiedMatching +Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref icd11:EE81 semapv:UnspecifiedMatching +Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref MESH:D058252 semapv:UnspecifiedMatching Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref UMLS:C1275339 semapv:UnspecifiedMatching Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MESH:D015618 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MedDRA:10063397 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref UMLS:C0019625 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref icd11:EK92 semapv:UnspecifiedMatching Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref UMLS:C2825741 semapv:UnspecifiedMatching Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref UMLS:C4707331 semapv:UnspecifiedMatching +Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref icd11:EE81 semapv:UnspecifiedMatching +Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref OMIM:142630 semapv:UnspecifiedMatching Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref UMLS:C4749819 semapv:UnspecifiedMatching Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref MESH:D012618 semapv:UnspecifiedMatching Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref UMLS:C0036489 semapv:UnspecifiedMatching @@ -3923,10 +4576,16 @@ Orphanet:158032 Hemophagocytic syndrome oboInOwl:hasDbXref UMLS:C0024291 semapv: Orphanet:158032 Hemophagocytic syndrome oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching Orphanet:158038 Primary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0019068 semapv:UnspecifiedMatching +Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching +Orphanet:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref ICD10:D76.2 semapv:UnspecifiedMatching Orphanet:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref ICD10:D76.2 semapv:UnspecifiedMatching Orphanet:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref UMLS:C5207031 semapv:UnspecifiedMatching +Orphanet:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref icd11:3B62.5 semapv:UnspecifiedMatching +Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref UMLS:C5190710 semapv:UnspecifiedMatching +Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching +Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref MESH:D055501 semapv:UnspecifiedMatching Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref MedDRA:10053867 semapv:UnspecifiedMatching @@ -3934,6 +4593,7 @@ Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref UMLS:C1096155 Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref UMLS:C4749375 semapv:UnspecifiedMatching +Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref icd11:LD44.A0 semapv:UnspecifiedMatching Orphanet:158124 Genetic dementia oboInOwl:hasDbXref UMLS:C5680680 semapv:UnspecifiedMatching Orphanet:158266 Huntington disease-like syndrome oboInOwl:hasDbXref MESH:C580174 semapv:UnspecifiedMatching Orphanet:158266 Huntington disease-like syndrome oboInOwl:hasDbXref UMLS:C3711380 semapv:UnspecifiedMatching @@ -3987,15 +4647,19 @@ Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 sema Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref UMLS:C5680684 semapv:UnspecifiedMatching Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref UMLS:C3897042 semapv:UnspecifiedMatching Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching +Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref UMLS:C4509020 semapv:UnspecifiedMatching Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MESH:C562812 semapv:UnspecifiedMatching Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MedDRA:10078729 semapv:UnspecifiedMatching Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 semapv:UnspecifiedMatching Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS:C0342791 semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref OMIM:602553 semapv:UnspecifiedMatching @@ -4019,12 +4683,14 @@ Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:Unspe Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref UMLS:C0339537 semapv:UnspecifiedMatching +Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:160 Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:160 Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:160 Castleman disease oboInOwl:hasDbXref MESH:D005871 semapv:UnspecifiedMatching Orphanet:160 Castleman disease oboInOwl:hasDbXref MedDRA:10050251 semapv:UnspecifiedMatching Orphanet:160 Castleman disease oboInOwl:hasDbXref OMIM:148000 semapv:UnspecifiedMatching Orphanet:160 Castleman disease oboInOwl:hasDbXref UMLS:C0017531 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref MESH:C536580 semapv:UnspecifiedMatching @@ -4041,10 +4707,13 @@ Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref MedDRA:10082398 semapv:U Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref UMLS:C1842870 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref icd11:LD44.11 semapv:UnspecifiedMatching Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref MESH:C538316 semapv:UnspecifiedMatching Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931816 semapv:UnspecifiedMatching +Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching +Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref UMLS:C4305131 semapv:UnspecifiedMatching Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -4056,11 +4725,15 @@ Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv: Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref MESH:C536808 semapv:UnspecifiedMatching Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref OMIM:615433 semapv:UnspecifiedMatching Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931338 semapv:UnspecifiedMatching +Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.30 semapv:UnspecifiedMatching +Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref UMLS:C3839990 semapv:UnspecifiedMatching +Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref ICD10:Q16.3 semapv:UnspecifiedMatching Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref ICD10:Q16.3 semapv:UnspecifiedMatching Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref UMLS:C0158587 semapv:UnspecifiedMatching +Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref icd11:LA22.3 semapv:UnspecifiedMatching Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref MESH:C537647 semapv:UnspecifiedMatching @@ -4073,21 +4746,28 @@ Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref O Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS:C1833213 semapv:UnspecifiedMatching Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration oboInOwl:hasDbXref UMLS:C5679571 semapv:UnspecifiedMatching Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.1 semapv:UnspecifiedMatching +Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.1 semapv:UnspecifiedMatching Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057903 semapv:UnspecifiedMatching Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C0024140 semapv:UnspecifiedMatching +Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref icd11:EB50 semapv:UnspecifiedMatching Orphanet:163531 Chronic cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057929 semapv:UnspecifiedMatching +Orphanet:163531 Chronic cutaneous lupus erythematosus oboInOwl:hasDbXref icd11:EB51 semapv:UnspecifiedMatching Orphanet:163582 Rare bacterial infectious disease oboInOwl:hasDbXref UMLS:C5681850 semapv:UnspecifiedMatching Orphanet:163585 Rare viral disease oboInOwl:hasDbXref UMLS:C5680445 semapv:UnspecifiedMatching Orphanet:163588 Rare parasitic disease oboInOwl:hasDbXref UMLS:C5680446 semapv:UnspecifiedMatching Orphanet:163591 Rare mycosis oboInOwl:hasDbXref UMLS:C5680444 semapv:UnspecifiedMatching Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref UMLS:C0272005 semapv:UnspecifiedMatching +Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref icd11:3A50.03 semapv:UnspecifiedMatching Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref UMLS:C4706504 semapv:UnspecifiedMatching Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption oboInOwl:hasDbXref UMLS:C5681851 semapv:UnspecifiedMatching +Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption oboInOwl:hasDbXref icd11:5C52.11 semapv:UnspecifiedMatching +Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref OMIM:614569 semapv:UnspecifiedMatching Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref UMLS:C0024454 semapv:UnspecifiedMatching @@ -4127,6 +4807,7 @@ Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboIn Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref OMIM:610042 semapv:UnspecifiedMatching Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5575702 semapv:UnspecifiedMatching Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref OMIM:613724 semapv:UnspecifiedMatching Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref UMLS:C4518784 semapv:UnspecifiedMatching Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching @@ -4135,15 +4816,19 @@ Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref MESH:C564710 se Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref MedDRA:10083099 semapv:UnspecifiedMatching Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref UMLS:C1848030 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304537 semapv:UnspecifiedMatching +Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.21 semapv:UnspecifiedMatching +Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref OMIM:254900 semapv:UnspecifiedMatching Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref UMLS:C0751779 semapv:UnspecifiedMatching Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref icd11:GB4Z semapv:UnspecifiedMatching Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MESH:D018234 semapv:UnspecifiedMatching Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MedDRA:10001882 semapv:UnspecifiedMatching Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref OMIM:606243 semapv:UnspecifiedMatching @@ -4154,9 +4839,11 @@ Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref M Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref UMLS:C4049262 semapv:UnspecifiedMatching Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref icd11:8A63.Y semapv:UnspecifiedMatching Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref UMLS:C4755310 semapv:UnspecifiedMatching Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611630 semapv:UnspecifiedMatching Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:614417 semapv:UnspecifiedMatching Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:615697 semapv:UnspecifiedMatching @@ -4169,15 +4856,18 @@ Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref O Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref UMLS:C4707308 semapv:UnspecifiedMatching Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref MESH:C535499 semapv:UnspecifiedMatching Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref OMIM:608105 semapv:UnspecifiedMatching Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref UMLS:C1842531 semapv:UnspecifiedMatching Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref MESH:C563789 semapv:UnspecifiedMatching Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref OMIM:609136 semapv:UnspecifiedMatching Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref UMLS:C1836727 semapv:UnspecifiedMatching Orphanet:163921 Posttransplant acute limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:163921 Posttransplant acute limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:163921 Posttransplant acute limbic encephalitis oboInOwl:hasDbXref UMLS:C4750744 semapv:UnspecifiedMatching Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref ICD10:L40.3 semapv:UnspecifiedMatching Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref ICD10:L40.3 semapv:UnspecifiedMatching @@ -4187,14 +4877,17 @@ Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref icd11:EA90.4 Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref ICD10:L40.2 semapv:UnspecifiedMatching Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref ICD10:L40.2 semapv:UnspecifiedMatching Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref UMLS:C0392439 semapv:UnspecifiedMatching +Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref icd11:EA90.41 semapv:UnspecifiedMatching Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10069664 semapv:UnspecifiedMatching Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C1274788 semapv:UnspecifiedMatching +Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref icd11:9A60.0Y semapv:UnspecifiedMatching Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref OMIM:300749 semapv:UnspecifiedMatching Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref UMLS:C2677903 semapv:UnspecifiedMatching +Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching @@ -4229,6 +4922,7 @@ Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref OMIM:309640 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref UMLS:C5191643 semapv:UnspecifiedMatching Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching @@ -4244,10 +4938,12 @@ Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semap Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4512072 semapv:UnspecifiedMatching Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref MESH:C536297 semapv:UnspecifiedMatching Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:400042 semapv:UnspecifiedMatching Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref UMLS:C1507149 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref icd11:5A81.1 semapv:UnspecifiedMatching Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref MESH:C538088 semapv:UnspecifiedMatching @@ -4258,6 +4954,7 @@ Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref icd11:LD20.Y sem Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref UMLS:C4707660 semapv:UnspecifiedMatching +Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref icd11:2A60.20 semapv:UnspecifiedMatching Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref MESH:C565789 semapv:UnspecifiedMatching @@ -4306,6 +5003,7 @@ Orphanet:165655 Genetic intestinal disease oboInOwl:hasDbXref UMLS:C5680438 sema Orphanet:165658 Genetic gastro-esophageal disease oboInOwl:hasDbXref UMLS:C5680437 semapv:UnspecifiedMatching Orphanet:165661 Genetic pancreatic disease oboInOwl:hasDbXref UMLS:C5680436 semapv:UnspecifiedMatching Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref MESH:C535373 semapv:UnspecifiedMatching Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref OMIM:221810 semapv:UnspecifiedMatching Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref UMLS:C1857301 semapv:UnspecifiedMatching @@ -4314,18 +5012,22 @@ Orphanet:165704 Non-syndromic urogenital tract malformation oboInOwl:hasDbXref U Orphanet:165707 Syndromic urogenital tract malformation oboInOwl:hasDbXref UMLS:C5680442 semapv:UnspecifiedMatching Orphanet:165711 Rare abdominal surgical disease oboInOwl:hasDbXref UMLS:C5680441 semapv:UnspecifiedMatching Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref OMIM:129200 semapv:UnspecifiedMatching Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref UMLS:C4304581 semapv:UnspecifiedMatching Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref OMIM:614418 semapv:UnspecifiedMatching Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref UMLS:C5191318 semapv:UnspecifiedMatching Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref MESH:C538220 semapv:UnspecifiedMatching Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref OMIM:221790 semapv:UnspecifiedMatching Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref UMLS:C1857314 semapv:UnspecifiedMatching Orphanet:165955 Wound myiasis oboInOwl:hasDbXref ICD10:B87.1 semapv:UnspecifiedMatching +Orphanet:165955 Wound myiasis oboInOwl:hasDbXref ICD10:B87.1 semapv:UnspecifiedMatching Orphanet:165955 Wound myiasis oboInOwl:hasDbXref UMLS:C0344061 semapv:UnspecifiedMatching Orphanet:165955 Wound myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 semapv:UnspecifiedMatching @@ -4340,11 +5042,13 @@ Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref OMIM:610021 Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref UMLS:C1864902 semapv:UnspecifiedMatching Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref icd11:5A45 semapv:UnspecifiedMatching Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref UMLS:C1840364 semapv:UnspecifiedMatching Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MedDRA:10034699 semapv:UnspecifiedMatching Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C0007959 semapv:UnspecifiedMatching +Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref icd11:8C20 semapv:UnspecifiedMatching Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref MESH:C565103 semapv:UnspecifiedMatching @@ -4352,12 +5056,14 @@ Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref OMIM:125640 semapv:Unspeci Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref UMLS:C1852144 semapv:UnspecifiedMatching Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600204 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600969 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref UMLS:C4707798 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref OMIM:132450 semapv:UnspecifiedMatching Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref UMLS:C4304499 semapv:UnspecifiedMatching Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching @@ -4367,15 +5073,18 @@ Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref MES Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref OMIM:601560 semapv:UnspecifiedMatching Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref UMLS:C1832112 semapv:UnspecifiedMatching Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref OMIM:607131 semapv:UnspecifiedMatching Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref UMLS:C4304500 semapv:UnspecifiedMatching Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref MESH:C563736 semapv:UnspecifiedMatching Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref OMIM:609324 semapv:UnspecifiedMatching Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref UMLS:C1836315 semapv:UnspecifiedMatching Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref MESH:C563735 semapv:UnspecifiedMatching Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref OMIM:609325 semapv:UnspecifiedMatching Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref UMLS:C1836307 semapv:UnspecifiedMatching @@ -4385,6 +5094,7 @@ Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInO Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:250410 semapv:UnspecifiedMatching Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C5190709 semapv:UnspecifiedMatching Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref MESH:C565400 semapv:UnspecifiedMatching Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref OMIM:250230 semapv:UnspecifiedMatching Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref UMLS:C1855217 semapv:UnspecifiedMatching @@ -4405,40 +5115,49 @@ Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref OMIM:611523 Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref UMLS:C1969084 semapv:UnspecifiedMatching Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref MESH:D056725 semapv:UnspecifiedMatching Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref UMLS:C1264039 semapv:UnspecifiedMatching Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref UMLS:C1264040 semapv:UnspecifiedMatching Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref UMLS:C1282968 semapv:UnspecifiedMatching Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref UMLS:C1282971 semapv:UnspecifiedMatching Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref UMLS:C1282974 semapv:UnspecifiedMatching Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref UMLS:C1282975 semapv:UnspecifiedMatching Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref MESH:D056729 semapv:UnspecifiedMatching Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref UMLS:C1264041 semapv:UnspecifiedMatching Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching +Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref MESH:C535376 semapv:UnspecifiedMatching Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref OMIM:304730 semapv:UnspecifiedMatching Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref UMLS:C1844671 semapv:UnspecifiedMatching +Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref icd11:2F36.Y semapv:UnspecifiedMatching Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref MESH:C537494 semapv:UnspecifiedMatching @@ -4446,6 +5165,7 @@ Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl: Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref UMLS:C1861481 semapv:UnspecifiedMatching Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:618855 semapv:UnspecifiedMatching Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS:C4755278 semapv:UnspecifiedMatching Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching @@ -4455,18 +5175,23 @@ Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref MESH Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref OMIM:612292 semapv:UnspecifiedMatching Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref UMLS:C2676770 semapv:UnspecifiedMatching Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref ICD10:L44.8 semapv:UnspecifiedMatching +Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref ICD10:L44.8 semapv:UnspecifiedMatching Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref MedDRA:10065247 semapv:UnspecifiedMatching Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref UMLS:C0406355 semapv:UnspecifiedMatching +Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref icd11:EL10 semapv:UnspecifiedMatching Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref MESH:C563484 semapv:UnspecifiedMatching Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref UMLS:C1833699 semapv:UnspecifiedMatching +Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref icd11:LD24.11 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref MESH:C536920 semapv:UnspecifiedMatching Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:275210 semapv:UnspecifiedMatching Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:619793 semapv:UnspecifiedMatching Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref UMLS:C0406585 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:125490 semapv:UnspecifiedMatching @@ -4488,6 +5213,8 @@ Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skelet Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref OMIM:604922 semapv:UnspecifiedMatching Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref UMLS:C4518794 semapv:UnspecifiedMatching +Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref ICD10:I49.5 semapv:UnspecifiedMatching Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref ICD10:I49.5 semapv:UnspecifiedMatching Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MESH:D012804 semapv:UnspecifiedMatching Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MedDRA:10040639 semapv:UnspecifiedMatching @@ -4501,21 +5228,27 @@ Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref icd11:BC65.Y sem Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref UMLS:C0473579 semapv:UnspecifiedMatching +Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref icd11:LC02 semapv:UnspecifiedMatching +Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref UMLS:C0012602 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref icd11:1F66.Y semapv:UnspecifiedMatching Orphanet:166295 Benign non-familial infantile seizures oboInOwl:hasDbXref UMLS:C5680425 semapv:UnspecifiedMatching Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching +Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref UMLS:C4749347 semapv:UnspecifiedMatching Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref ICD10:G40.1 semapv:UnspecifiedMatching +Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref ICD10:G40.1 semapv:UnspecifiedMatching Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref UMLS:C4749728 semapv:UnspecifiedMatching Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref UMLS:C4707564 semapv:UnspecifiedMatching Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref icd11:8A60.Y semapv:UnspecifiedMatching Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref UMLS:C4749346 semapv:UnspecifiedMatching Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref icd11:8A61.10 semapv:UnspecifiedMatching Orphanet:166311 Benign partial infantile seizures oboInOwl:hasDbXref UMLS:C5680426 semapv:UnspecifiedMatching @@ -4525,33 +5258,42 @@ Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 semapv:Un Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609572 semapv:UnspecifiedMatching Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609573 semapv:UnspecifiedMatching Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref UMLS:C0393720 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613339 semapv:UnspecifiedMatching Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613340 semapv:UnspecifiedMatching Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref UMLS:C4706506 semapv:UnspecifiedMatching +Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref UMLS:C0751791 semapv:UnspecifiedMatching +Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref UMLS:C0393725 semapv:UnspecifiedMatching +Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref UMLS:C4706598 semapv:UnspecifiedMatching +Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166424 Thinking seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166424 Thinking seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166424 Thinking seizures oboInOwl:hasDbXref UMLS:C4706523 semapv:UnspecifiedMatching +Orphanet:166424 Thinking seizures oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref UMLS:C4706527 semapv:UnspecifiedMatching +Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref UMLS:C4706587 semapv:UnspecifiedMatching +Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166433 Reading seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166433 Reading seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:166433 Reading seizures oboInOwl:hasDbXref OMIM:132300 semapv:UnspecifiedMatching Orphanet:166433 Reading seizures oboInOwl:hasDbXref UMLS:C0278193 semapv:UnspecifiedMatching +Orphanet:166433 Reading seizures oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166463 Epilepsy syndrome oboInOwl:hasDbXref MESH:D000073376 semapv:UnspecifiedMatching Orphanet:166466 Neurocutaneous syndrome with epilepsy oboInOwl:hasDbXref UMLS:C5680427 semapv:UnspecifiedMatching Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature oboInOwl:hasDbXref UMLS:C5680428 semapv:UnspecifiedMatching @@ -4563,18 +5305,23 @@ Orphanet:166484 Inflammatory and autoimmune disease with epilepsy oboInOwl:hasDb Orphanet:166487 Cerebral diseases of vascular origin with epilepsy oboInOwl:hasDbXref UMLS:C5680434 semapv:UnspecifiedMatching Orphanet:166490 Infectious disease with epilepsy oboInOwl:hasDbXref UMLS:C5680432 semapv:UnspecifiedMatching Orphanet:1665 Sporadic fetal brain disruption sequence oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:1665 Sporadic fetal brain disruption sequence oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:1665 Sporadic fetal brain disruption sequence oboInOwl:hasDbXref UMLS:C4706553 semapv:UnspecifiedMatching Orphanet:1666 Dextrocardia oboInOwl:hasDbXref ICD10:Q24.0 semapv:UnspecifiedMatching +Orphanet:1666 Dextrocardia oboInOwl:hasDbXref ICD10:Q24.0 semapv:UnspecifiedMatching Orphanet:1666 Dextrocardia oboInOwl:hasDbXref MESH:D003914 semapv:UnspecifiedMatching Orphanet:1666 Dextrocardia oboInOwl:hasDbXref MedDRA:10012592 semapv:UnspecifiedMatching Orphanet:1666 Dextrocardia oboInOwl:hasDbXref UMLS:C0011813 semapv:UnspecifiedMatching Orphanet:1666 Dextrocardia oboInOwl:hasDbXref icd11:LA80.1 semapv:UnspecifiedMatching Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref MESH:C536739 semapv:UnspecifiedMatching Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 semapv:UnspecifiedMatching Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref UMLS:C0432217 semapv:UnspecifiedMatching +Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref icd11:5A13.6 semapv:UnspecifiedMatching Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect oboInOwl:hasDbXref UMLS:C5679584 semapv:UnspecifiedMatching Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 semapv:UnspecifiedMatching Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MedDRA:10008415 semapv:UnspecifiedMatching Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching @@ -4594,8 +5341,10 @@ Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref OMIM:222500 sema Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref UMLS:C5679611 semapv:UnspecifiedMatching Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching +Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref MedDRA:10087520 semapv:UnspecifiedMatching Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref UMLS:C0342436 semapv:UnspecifiedMatching +Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref icd11:5A61.Y semapv:UnspecifiedMatching Orphanet:1674 Digitorenocerebral syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching @@ -4605,7 +5354,9 @@ Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1959620 semapv:UnspecifiedMatching Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching +Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref UMLS:C1384816 semapv:UnspecifiedMatching +Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref icd11:LA8B.1 semapv:UnspecifiedMatching Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref MESH:D053718 semapv:UnspecifiedMatching @@ -4613,7 +5364,9 @@ Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref MedDRA:10055046 semapv:Unspeci Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref UMLS:C0263390 semapv:UnspecifiedMatching Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching Orphanet:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref UMLS:C4274283 semapv:UnspecifiedMatching +Orphanet:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref icd11:LA8F semapv:UnspecifiedMatching Orphanet:167714 Unclassified acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:167714 Unclassified acute myeloid leukemia oboInOwl:hasDbXref UMLS:C5679583 semapv:UnspecifiedMatching Orphanet:167759 Hereditary dentin defect oboInOwl:hasDbXref UMLS:C5680465 semapv:UnspecifiedMatching @@ -4624,9 +5377,13 @@ Orphanet:167848 Rare cardiomyopathy oboInOwl:hasDbXref MESH:D009202 semapv:Unspe Orphanet:167848 Rare cardiomyopathy oboInOwl:hasDbXref MedDRA:10007636 semapv:UnspecifiedMatching Orphanet:167848 Rare cardiomyopathy oboInOwl:hasDbXref UMLS:C5680467 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.0 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.0 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.1 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.1 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.2 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.2 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.3 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.3 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.8 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.8 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.9 semapv:UnspecifiedMatching @@ -4634,9 +5391,12 @@ Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.9 semapv:UnspecifiedMatchi Orphanet:1679 Diphtheria oboInOwl:hasDbXref MESH:D004165 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref MedDRA:10013023 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref UMLS:C0012546 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.0 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.1 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.2 semapv:UnspecifiedMatching Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.3 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.Y semapv:UnspecifiedMatching Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref ICD10:L65.1 semapv:UnspecifiedMatching Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref ICD10:L65.1 semapv:UnspecifiedMatching Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref MESH:D058247 semapv:UnspecifiedMatching @@ -4645,12 +5405,14 @@ Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref OMIM:600628 semapv:Unspeci Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref UMLS:C0406468 semapv:UnspecifiedMatching Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching Orphanet:1681 Diprosopus oboInOwl:hasDbXref ICD10:Q89.4 semapv:UnspecifiedMatching +Orphanet:1681 Diprosopus oboInOwl:hasDbXref ICD10:Q89.4 semapv:UnspecifiedMatching Orphanet:1681 Diprosopus oboInOwl:hasDbXref UMLS:C0266731 semapv:UnspecifiedMatching Orphanet:168194 Rare cardiac tumor oboInOwl:hasDbXref UMLS:C5680461 semapv:UnspecifiedMatching Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref OMIM:600459 semapv:UnspecifiedMatching Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref UMLS:C4304024 semapv:UnspecifiedMatching +Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref icd11:BD50.Z semapv:UnspecifiedMatching Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref OMIM:126320 semapv:UnspecifiedMatching @@ -4675,7 +5437,10 @@ Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDb Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref UMLS:C1864872 semapv:UnspecifiedMatching Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching @@ -4685,17 +5450,25 @@ Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610951 semapv:UnspecifiedMatching Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022340 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.2 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.2 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.3 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.3 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.4 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.4 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.5 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.5 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.8 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.8 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref UMLS:C0040820 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref icd11:1F80 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref icd11:1F83 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref icd11:1F85 semapv:UnspecifiedMatching Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref OMIM:313420 semapv:UnspecifiedMatching @@ -4720,18 +5493,25 @@ Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref OMIM:6 Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref UMLS:C1836862 semapv:UnspecifiedMatching Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref OMIM:613743 semapv:UnspecifiedMatching Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref UMLS:C5190811 semapv:UnspecifiedMatching Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:607080 semapv:UnspecifiedMatching Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref UMLS:C5190810 semapv:UnspecifiedMatching +Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref icd11:LD2A.1 semapv:UnspecifiedMatching Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref OMIM:610505 semapv:UnspecifiedMatching Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref UMLS:C5679582 semapv:UnspecifiedMatching +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching +Orphanet:168569 H syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:168569 H syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:168569 H syndrome oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching Orphanet:168569 H syndrome oboInOwl:hasDbXref UMLS:C1864445 semapv:UnspecifiedMatching +Orphanet:168569 H syndrome oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching +Orphanet:168572 Native American myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:168572 Native American myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:168572 Native American myopathy oboInOwl:hasDbXref MESH:C538343 semapv:UnspecifiedMatching Orphanet:168572 Native American myopathy oboInOwl:hasDbXref OMIM:255995 semapv:UnspecifiedMatching @@ -4741,11 +5521,13 @@ Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDb Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref OMIM:608885 semapv:UnspecifiedMatching Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref UMLS:C5190707 semapv:UnspecifiedMatching +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref MESH:C565737 semapv:UnspecifiedMatching Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref OMIM:604901 semapv:UnspecifiedMatching Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref UMLS:C1858051 semapv:UnspecifiedMatching +Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref icd11:DB93.20 semapv:UnspecifiedMatching Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref OMIM:604931 semapv:UnspecifiedMatching @@ -4753,9 +5535,12 @@ Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl: Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref UMLS:C4329210 semapv:UnspecifiedMatching Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref icd11:5A71.Y semapv:UnspecifiedMatching Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref MESH:C563856 semapv:UnspecifiedMatching Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref OMIM:608800 semapv:UnspecifiedMatching Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref UMLS:C1837371 semapv:UnspecifiedMatching +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref icd11:MH11.Z semapv:UnspecifiedMatching +Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref OMIM:250850 semapv:UnspecifiedMatching Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref UMLS:C0268621 semapv:UnspecifiedMatching @@ -4770,23 +5555,29 @@ Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOw Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref UMLS:C0268416 semapv:UnspecifiedMatching Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref ICD10:L21.8 semapv:UnspecifiedMatching +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref ICD10:L21.8 semapv:UnspecifiedMatching Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref MESH:C565217 semapv:UnspecifiedMatching Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref OMIM:610227 semapv:UnspecifiedMatching Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref UMLS:C1853258 semapv:UnspecifiedMatching Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref OMIM:615969 semapv:UnspecifiedMatching Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref UMLS:C4274336 semapv:UnspecifiedMatching Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching +Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref OMIM:615970 semapv:UnspecifiedMatching Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref UMLS:C1863080 semapv:UnspecifiedMatching Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref UMLS:C4274970 semapv:UnspecifiedMatching +Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref icd11:LD24.6Y semapv:UnspecifiedMatching Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref OMIM:609579 semapv:UnspecifiedMatching Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref UMLS:C4510730 semapv:UnspecifiedMatching +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching @@ -4801,8 +5592,11 @@ Orphanet:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MESH:D0 Orphanet:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MedDRA:10061345 semapv:UnspecifiedMatching Orphanet:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref UMLS:C5679581 semapv:UnspecifiedMatching Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref ICD10:F84.3 semapv:UnspecifiedMatching +Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref ICD10:F84.3 semapv:UnspecifiedMatching Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref MedDRA:10008522 semapv:UnspecifiedMatching Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref UMLS:C0236791 semapv:UnspecifiedMatching +Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref icd11:6A02.3 semapv:UnspecifiedMatching +Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref MESH:C535852 semapv:UnspecifiedMatching Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref OMIM:610140 semapv:UnspecifiedMatching @@ -4811,10 +5605,12 @@ Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref icd11:LD2 Orphanet:168803 Primary peritoneal tumor oboInOwl:hasDbXref UMLS:C5680455 semapv:UnspecifiedMatching Orphanet:168807 Primary malignant peritoneal tumor oboInOwl:hasDbXref UMLS:C5680454 semapv:UnspecifiedMatching Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching +Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref MedDRA:10056558 semapv:UnspecifiedMatching Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0346109 semapv:UnspecifiedMatching Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref icd11:2C51.2 semapv:UnspecifiedMatching Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching +Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref UMLS:C1334818 semapv:UnspecifiedMatching Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching @@ -4823,10 +5619,12 @@ Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref ICD10:D47.5 sem Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref MedDRA:10065854 semapv:UnspecifiedMatching Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref UMLS:C0346421 semapv:UnspecifiedMatching +Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref icd11:2A20.3 semapv:UnspecifiedMatching Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oboInOwl:hasDbXref UMLS:C5680457 semapv:UnspecifiedMatching Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref UMLS:C4545381 semapv:UnspecifiedMatching +Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref icd11:2A50 semapv:UnspecifiedMatching Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref UMLS:C5680456 semapv:UnspecifiedMatching @@ -4845,18 +5643,23 @@ Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl: Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref UMLS:C0280028 semapv:UnspecifiedMatching Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref icd11:2A34 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MESH:D058617 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MedDRA:10073957 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref UMLS:C0545080 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref icd11:XH3BP6 semapv:UnspecifiedMatching Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref OMIM:612713 semapv:UnspecifiedMatching Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref UMLS:C2675185 semapv:UnspecifiedMatching Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref MESH:C567763 semapv:UnspecifiedMatching Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref OMIM:613089 semapv:UnspecifiedMatching Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref UMLS:C2751313 semapv:UnspecifiedMatching +Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref UMLS:C5191057 semapv:UnspecifiedMatching @@ -4870,38 +5673,50 @@ Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:U Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref OMIM:611291 semapv:UnspecifiedMatching Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref UMLS:C4303792 semapv:UnspecifiedMatching +Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref OMIM:615607 semapv:UnspecifiedMatching Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref UMLS:C4510864 semapv:UnspecifiedMatching +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref MESH:C563824 semapv:UnspecifiedMatching Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref OMIM:608957 semapv:UnspecifiedMatching Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref UMLS:C1837065 semapv:UnspecifiedMatching +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref UMLS:C4303571 semapv:UnspecifiedMatching +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref MESH:C536781 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:618806 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref UMLS:C1866426 semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref OMIM:606367 semapv:UnspecifiedMatching Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref UMLS:C4755277 semapv:UnspecifiedMatching Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching Orphanet:169105 Good syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:169105 Good syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:169105 Good syndrome oboInOwl:hasDbXref MedDRA:10079838 semapv:UnspecifiedMatching Orphanet:169105 Good syndrome oboInOwl:hasDbXref UMLS:C0221027 semapv:UnspecifiedMatching Orphanet:169105 Good syndrome oboInOwl:hasDbXref icd11:4B40.2 semapv:UnspecifiedMatching Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref UMLS:C0398692 semapv:UnspecifiedMatching +Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref icd11:4A01.04 semapv:UnspecifiedMatching +Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10:D80.7 semapv:UnspecifiedMatching Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10:D80.7 semapv:UnspecifiedMatching Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref MedDRA:10044388 semapv:UnspecifiedMatching Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS:C0272238 semapv:UnspecifiedMatching +Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref icd11:4A01.03 semapv:UnspecifiedMatching Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:245480 semapv:UnspecifiedMatching @@ -4909,6 +5724,7 @@ Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl: Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref UMLS:C5546032 semapv:UnspecifiedMatching Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:216950 semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:217000 semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613652 semapv:UnspecifiedMatching @@ -4918,6 +5734,7 @@ Orphanet:169147 Immunodeficiency due to a classical component pathway complement Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref UMLS:C0398750 semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref icd11:4A00.10 semapv:UnspecifiedMatching Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:610102 semapv:UnspecifiedMatching Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:612446 semapv:UnspecifiedMatching @@ -4946,12 +5763,14 @@ Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon Orphanet:169163 Familial scaphocephaly syndrome oboInOwl:hasDbXref MedDRA:10072229 semapv:UnspecifiedMatching Orphanet:169163 Familial scaphocephaly syndrome oboInOwl:hasDbXref UMLS:C3267076 semapv:UnspecifiedMatching Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref MESH:C562934 semapv:UnspecifiedMatching Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:615959 semapv:UnspecifiedMatching Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410204 semapv:UnspecifiedMatching Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref OMIM:160150 semapv:UnspecifiedMatching Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS:C1834558 semapv:UnspecifiedMatching Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching @@ -4966,11 +5785,14 @@ Orphanet:169355 Immunodeficiency syndrome with autoimmunity oboInOwl:hasDbXref U Orphanet:169355 Immunodeficiency syndrome with autoimmunity oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching Orphanet:169361 Immune dysregulation disease with immunodeficiency oboInOwl:hasDbXref UMLS:C5680458 semapv:UnspecifiedMatching Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells oboInOwl:hasDbXref UMLS:C5680449 semapv:UnspecifiedMatching +Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells oboInOwl:hasDbXref icd11:4A01.02 semapv:UnspecifiedMatching +Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref OMIM:612300 semapv:UnspecifiedMatching Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref UMLS:C4755276 semapv:UnspecifiedMatching Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref OMIM:613912 semapv:UnspecifiedMatching Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref UMLS:C5190780 semapv:UnspecifiedMatching Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching @@ -4978,14 +5800,17 @@ Orphanet:1695 Non-distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:U Orphanet:1695 Non-distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1695 Non-distal duplication 10q oboInOwl:hasDbXref UMLS:C4749376 semapv:UnspecifiedMatching Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref UMLS:C5679576 semapv:UnspecifiedMatching Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref UMLS:C5679575 semapv:UnspecifiedMatching Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref UMLS:C5679574 semapv:UnspecifiedMatching Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching @@ -4993,13 +5818,16 @@ Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:Unspecifie Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref UMLS:C4706889 semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref UMLS:C0272322 semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref UMLS:C0272324 semapv:UnspecifiedMatching Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching @@ -5008,6 +5836,7 @@ Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatch Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref MESH:C538299 semapv:UnspecifiedMatching Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref UMLS:C0795845 semapv:UnspecifiedMatching +Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref icd11:LD41.B1 semapv:UnspecifiedMatching Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref OMIM:245400 semapv:UnspecifiedMatching @@ -5043,10 +5872,12 @@ Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:Unspe Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref MESH:C538036 semapv:UnspecifiedMatching Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref UMLS:C2931705 semapv:UnspecifiedMatching +Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref UMLS:C4707009 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10036732 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:602114 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching @@ -5056,12 +5887,16 @@ Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:Unspecifie Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref UMLS:C1096168 semapv:UnspecifiedMatching Orphanet:171220 Rectal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:171220 Rectal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching Orphanet:171220 Rectal duplication oboInOwl:hasDbXref UMLS:C4511483 semapv:UnspecifiedMatching +Orphanet:171220 Rectal duplication oboInOwl:hasDbXref icd11:LB17.Y semapv:UnspecifiedMatching Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref MESH:C538355 semapv:UnspecifiedMatching Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:610883 semapv:UnspecifiedMatching Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C2931246 semapv:UnspecifiedMatching +Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.G1 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching @@ -5069,12 +5904,16 @@ Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:6153 Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref UMLS:C5680451 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref UMLS:C5680452 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching @@ -5083,6 +5922,8 @@ Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:610687 semapv: Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref UMLS:C5680453 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching @@ -5092,16 +5933,21 @@ Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609285 Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:617336 semapv:UnspecifiedMatching Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546125 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching +Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546123 semapv:UnspecifiedMatching +Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref OMIM:609524 semapv:UnspecifiedMatching Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref UMLS:C4707258 semapv:UnspecifiedMatching +Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref icd11:8C76 semapv:UnspecifiedMatching Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref MESH:C538307 semapv:UnspecifiedMatching Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref UMLS:C2931811 semapv:UnspecifiedMatching +Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref icd11:LD41.H1 semapv:UnspecifiedMatching Orphanet:1716 Distal duplication 18q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1716 Distal duplication 18q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1716 Distal duplication 18q oboInOwl:hasDbXref UMLS:C5190516 semapv:UnspecifiedMatching @@ -5110,26 +5956,32 @@ Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref ICD10:G11 Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref MESH:C567465 semapv:UnspecifiedMatching Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref OMIM:300750 semapv:UnspecifiedMatching Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref UMLS:C2677897 semapv:UnspecifiedMatching +Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref icd11:8B44.02 semapv:UnspecifiedMatching Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref MESH:C567931 semapv:UnspecifiedMatching Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref OMIM:611945 semapv:UnspecifiedMatching Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref UMLS:C2936880 semapv:UnspecifiedMatching +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref MESH:C567349 semapv:UnspecifiedMatching Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref OMIM:612335 semapv:UnspecifiedMatching Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref UMLS:C2676732 semapv:UnspecifiedMatching +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref MESH:C566983 semapv:UnspecifiedMatching Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref OMIM:611252 semapv:UnspecifiedMatching Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref UMLS:C1970009 semapv:UnspecifiedMatching +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref MESH:C567311 semapv:UnspecifiedMatching Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref UMLS:C3496228 semapv:UnspecifiedMatching +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching +Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref MESH:D000092423 semapv:UnspecifiedMatching Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref MedDRA:10072138 semapv:UnspecifiedMatching @@ -5140,15 +5992,18 @@ Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref ICD10:Q0 Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref OMIM:611603 semapv:UnspecifiedMatching Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref UMLS:C5680517 semapv:UnspecifiedMatching +Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref UMLS:C4545229 semapv:UnspecifiedMatching +Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref icd11:AB34.0 semapv:UnspecifiedMatching Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref MESH:C565449 semapv:UnspecifiedMatching Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref OMIM:245340 semapv:UnspecifiedMatching Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref UMLS:C1855577 semapv:UnspecifiedMatching Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref MESH:C538104 semapv:UnspecifiedMatching Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168100 semapv:UnspecifiedMatching Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching @@ -5160,10 +6015,12 @@ Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref ICD10:Q92.3 semapv:Unspe Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref UMLS:C4707664 semapv:UnspecifiedMatching Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref icd11:LD41.J0 semapv:UnspecifiedMatching Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MESH:C536174 semapv:UnspecifiedMatching Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MedDRA:10062952 semapv:UnspecifiedMatching Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref OMIM:604809 semapv:UnspecifiedMatching Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref UMLS:C0878555 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref icd11:CA26.1 semapv:UnspecifiedMatching Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref UMLS:C4750772 semapv:UnspecifiedMatching @@ -5186,6 +6043,7 @@ Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref ICD10:Q87.8 sem Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref MESH:C563639 semapv:UnspecifiedMatching Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref OMIM:614100 semapv:UnspecifiedMatching Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref UMLS:C0432335 semapv:UnspecifiedMatching +Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref MESH:D053529 semapv:UnspecifiedMatching @@ -5205,20 +6063,26 @@ Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref UMLS:C3267187 semapv:UnspecifiedMatching Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref OMIM:612445 semapv:UnspecifiedMatching Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref UMLS:C4303548 semapv:UnspecifiedMatching +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref icd11:LD28.Y semapv:UnspecifiedMatching +Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref OMIM:612674 semapv:UnspecifiedMatching Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref UMLS:C4509920 semapv:UnspecifiedMatching +Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 semapv:UnspecifiedMatching Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836330 semapv:UnspecifiedMatching +Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref MESH:C567262 semapv:UnspecifiedMatching Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref OMIM:612539 semapv:UnspecifiedMatching Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref UMLS:C2675528 semapv:UnspecifiedMatching +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref MESH:C567558 semapv:UnspecifiedMatching @@ -5236,15 +6100,18 @@ Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OM Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449843 semapv:UnspecifiedMatching Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref icd11:GB90.41 semapv:UnspecifiedMatching Orphanet:171881 Cap myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171881 Cap myopathy oboInOwl:hasDbXref MESH:C579969 semapv:UnspecifiedMatching Orphanet:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching Orphanet:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching Orphanet:171881 Cap myopathy oboInOwl:hasDbXref UMLS:C3710589 semapv:UnspecifiedMatching Orphanet:171881 Cap myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref UMLS:C4706943 semapv:UnspecifiedMatching Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref UMLS:C4707259 semapv:UnspecifiedMatching Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:171895 Myeloid hemopathy oboInOwl:hasDbXref UMLS:C5680514 semapv:UnspecifiedMatching @@ -5259,6 +6126,7 @@ Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMat Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref UMLS:C4082793 semapv:UnspecifiedMatching Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref icd11:LD41.91 semapv:UnspecifiedMatching Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref MedDRA:10076033 semapv:UnspecifiedMatching Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching @@ -5284,8 +6152,11 @@ Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref MESH:C567224 semapv:UnspecifiedMatching Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref OMIM:608363 semapv:UnspecifiedMatching Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref UMLS:C2675369 semapv:UnspecifiedMatching +Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref icd11:LD41.M semapv:UnspecifiedMatching Orphanet:172976 Congenital myopathy with cores oboInOwl:hasDbXref UMLS:C5680516 semapv:UnspecifiedMatching Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.0 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.0 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.1 semapv:UnspecifiedMatching Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.1 semapv:UnspecifiedMatching Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.9 semapv:UnspecifiedMatching Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.9 semapv:UnspecifiedMatching @@ -5298,16 +6169,21 @@ Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatchi Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref MESH:C537643 semapv:UnspecifiedMatching Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref MedDRA:10080079 semapv:UnspecifiedMatching Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref UMLS:C0265405 semapv:UnspecifiedMatching +Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref icd11:LD41.31 semapv:UnspecifiedMatching +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref MESH:C537352 semapv:UnspecifiedMatching Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref OMIM:156500 semapv:UnspecifiedMatching Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref UMLS:C0265289 semapv:UnspecifiedMatching +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref UMLS:C0812464 semapv:UnspecifiedMatching +Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref icd11:LD41.41 semapv:UnspecifiedMatching Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref UMLS:C4302551 semapv:UnspecifiedMatching +Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref icd11:LD41.51 semapv:UnspecifiedMatching Orphanet:174590 Congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref MedDRA:10083932 semapv:UnspecifiedMatching Orphanet:174590 Congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C3899503 semapv:UnspecifiedMatching Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching @@ -5326,14 +6202,17 @@ Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatchi Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref MESH:C538020 semapv:UnspecifiedMatching Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref UMLS:C0795829 semapv:UnspecifiedMatching +Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref icd11:LD41.70 semapv:UnspecifiedMatching Orphanet:1756 Caudal duplication oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1756 Caudal duplication oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1756 Caudal duplication oboInOwl:hasDbXref OMIM:607864 semapv:UnspecifiedMatching Orphanet:1756 Caudal duplication oboInOwl:hasDbXref UMLS:C0266688 semapv:UnspecifiedMatching Orphanet:1756 Caudal duplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:1757 Fibular dimelia-diplopodia syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1757 Fibular dimelia-diplopodia syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1757 Fibular dimelia-diplopodia syndrome oboInOwl:hasDbXref UMLS:C4303758 semapv:UnspecifiedMatching Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref UMLS:C4518084 semapv:UnspecifiedMatching Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:176 Non-rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C5681009 semapv:UnspecifiedMatching @@ -5351,6 +6230,7 @@ Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref OMIM:223900 semapv:Unspec Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref UMLS:C0013364 semapv:UnspecifiedMatching Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref icd11:8C21.1 semapv:UnspecifiedMatching Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref OMIM:127350 semapv:UnspecifiedMatching Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref UMLS:C4302549 semapv:UnspecifiedMatching Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching @@ -5368,12 +6248,15 @@ Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:U Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref MESH:C535879 semapv:UnspecifiedMatching Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref UMLS:C2931053 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282529 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching +Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref MESH:C565536 semapv:UnspecifiedMatching Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref OMIM:233430 semapv:UnspecifiedMatching @@ -5381,8 +6264,11 @@ Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl: Orphanet:177101 Rare adult hypothyroidism oboInOwl:hasDbXref UMLS:C5680511 semapv:UnspecifiedMatching Orphanet:177107 Syndromic hypothyroidism oboInOwl:hasDbXref UMLS:C5680512 semapv:UnspecifiedMatching Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q98.7 semapv:UnspecifiedMatching +Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q98.7 semapv:UnspecifiedMatching Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref MESH:D006060 semapv:UnspecifiedMatching Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0018055 semapv:UnspecifiedMatching +Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref MedDRA:10062759 semapv:UnspecifiedMatching @@ -5398,6 +6284,7 @@ Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:616353 semapv:Unspe Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:620040 semapv:UnspecifiedMatching Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:620133 semapv:UnspecifiedMatching Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref UMLS:C0265965 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref icd11:3A70.0 semapv:UnspecifiedMatching Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref MESH:C536959 semapv:UnspecifiedMatching @@ -5411,22 +6298,32 @@ Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref IC Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref UMLS:C4706366 semapv:UnspecifiedMatching Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref UMLS:C5680507 semapv:UnspecifiedMatching +Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching +Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref UMLS:C5680508 semapv:UnspecifiedMatching +Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching +Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref UMLS:C5680509 semapv:UnspecifiedMatching +Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching +Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref UMLS:C5680510 semapv:UnspecifiedMatching +Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching +Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref UMLS:C5680504 semapv:UnspecifiedMatching Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref UMLS:C5680505 semapv:UnspecifiedMatching Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching @@ -5436,6 +6333,7 @@ Orphanet:178 Chordoma oboInOwl:hasDbXref MESH:D002817 semapv:UnspecifiedMatching Orphanet:178 Chordoma oboInOwl:hasDbXref MedDRA:10008747 semapv:UnspecifiedMatching Orphanet:178 Chordoma oboInOwl:hasDbXref OMIM:215400 semapv:UnspecifiedMatching Orphanet:178 Chordoma oboInOwl:hasDbXref UMLS:C0008487 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref icd11:2B5J semapv:UnspecifiedMatching Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref MESH:C536503 semapv:UnspecifiedMatching @@ -5451,12 +6349,16 @@ Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching Orphanet:178040 Rare peripheral precocious puberty oboInOwl:hasDbXref UMLS:C5680513 semapv:UnspecifiedMatching +Orphanet:178040 Rare peripheral precocious puberty oboInOwl:hasDbXref icd11:5A92 semapv:UnspecifiedMatching +Orphanet:178045 Transient congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.03 semapv:UnspecifiedMatching +Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref MESH:C566147 semapv:UnspecifiedMatching Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref UMLS:C1861753 semapv:UnspecifiedMatching Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C537474 semapv:UnspecifiedMatching Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1843691 semapv:UnspecifiedMatching Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching @@ -5477,8 +6379,10 @@ Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ICD10 Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref OMIM:615537 semapv:UnspecifiedMatching Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref UMLS:C4707796 semapv:UnspecifiedMatching Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref UMLS:C2205345 semapv:UnspecifiedMatching Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching Orphanet:178320 Acute lung injury oboInOwl:hasDbXref ICD10:S27.3 semapv:UnspecifiedMatching @@ -5493,6 +6397,7 @@ Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref OMIM:300600 semapv Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref UMLS:C0268505 semapv:UnspecifiedMatching Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref icd11:9B7Y semapv:UnspecifiedMatching Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref ICD10:L56.8 semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref ICD10:L56.8 semapv:UnspecifiedMatching Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref MESH:C563466 semapv:UnspecifiedMatching Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:600630 semapv:UnspecifiedMatching Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614621 semapv:UnspecifiedMatching @@ -5505,9 +6410,11 @@ Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref UMLS:C0334 Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref icd11:2E92.1 semapv:UnspecifiedMatching Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref icd11:2F30.Y semapv:UnspecifiedMatching Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching +Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref MESH:C000591739 semapv:UnspecifiedMatching Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref OMIM:139300 semapv:UnspecifiedMatching Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref UMLS:C1970109 semapv:UnspecifiedMatching +Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref icd11:5A92 semapv:UnspecifiedMatching Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref MESH:C564589 semapv:UnspecifiedMatching @@ -5516,9 +6423,12 @@ Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:615222 semapv:Uns Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS:C1846431 semapv:UnspecifiedMatching Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref MESH:C566441 semapv:UnspecifiedMatching Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref UMLS:C1864690 semapv:UnspecifiedMatching +Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching +Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C4302818 semapv:UnspecifiedMatching Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching @@ -5529,6 +6439,7 @@ Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref OMIM:192950 semapv: Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref UMLS:C0240912 semapv:UnspecifiedMatching Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref icd11:LB98.4 semapv:UnspecifiedMatching Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref OMIM:612301 semapv:UnspecifiedMatching Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref UMLS:C4751205 semapv:UnspecifiedMatching Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching @@ -5536,6 +6447,7 @@ Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutati Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref UMLS:C5190706 semapv:UnspecifiedMatching +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref icd11:5C5A semapv:UnspecifiedMatching Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref MESH:C538186 semapv:UnspecifiedMatching @@ -5543,14 +6455,18 @@ Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:201180 sem Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref UMLS:C1860118 semapv:UnspecifiedMatching Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref MESH:C564664 semapv:UnspecifiedMatching Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 semapv:UnspecifiedMatching Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref UMLS:C1847532 semapv:UnspecifiedMatching +Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching +Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref UMLS:C2678055 semapv:UnspecifiedMatching Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref icd11:8C70.Y semapv:UnspecifiedMatching Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref MESH:C566343 semapv:UnspecifiedMatching Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref UMLS:C1863599 semapv:UnspecifiedMatching @@ -5591,17 +6507,28 @@ Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOw Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:620114 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:620157 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5680502 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:178475 Wound botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178475 Wound botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178475 Wound botulism oboInOwl:hasDbXref UMLS:C1306794 semapv:UnspecifiedMatching +Orphanet:178475 Wound botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching +Orphanet:178478 Infant botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178478 Infant botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178478 Infant botulism oboInOwl:hasDbXref UMLS:C0238027 semapv:UnspecifiedMatching +Orphanet:178478 Infant botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching +Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref UMLS:C1443901 semapv:UnspecifiedMatching +Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching +Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref icd11:null semapv:UnspecifiedMatching +Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref UMLS:C4289991 semapv:UnspecifiedMatching +Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref UMLS:C0730271 semapv:UnspecifiedMatching +Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref icd11:9B76 semapv:UnspecifiedMatching Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching @@ -5629,19 +6556,26 @@ Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref MESH:D056267 s Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref UMLS:C1276140 semapv:UnspecifiedMatching Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.8 semapv:UnspecifiedMatching +Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.8 semapv:UnspecifiedMatching Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref UMLS:C5680503 semapv:UnspecifiedMatching Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching +Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref UMLS:C4518232 semapv:UnspecifiedMatching +Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref icd11:2B0Y semapv:UnspecifiedMatching +Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref UMLS:C1707547 semapv:UnspecifiedMatching +Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref icd11:2B0Y semapv:UnspecifiedMatching Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref UMLS:C1275321 semapv:UnspecifiedMatching Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref icd11:2A85.2 semapv:UnspecifiedMatching Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching +Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref UMLS:C1333171 semapv:UnspecifiedMatching Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref icd11:2A80.3 semapv:UnspecifiedMatching Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref UMLS:C1709656 semapv:UnspecifiedMatching Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref icd11:2A81.A semapv:UnspecifiedMatching Orphanet:178548 Indolent primary cutaneous T-cell lymphoma oboInOwl:hasDbXref UMLS:C5680498 semapv:UnspecifiedMatching @@ -5654,16 +6588,19 @@ Orphanet:178566 Mycosis fungoides and variants oboInOwl:hasDbXref ICD10:C84.0 se Orphanet:178566 Mycosis fungoides and variants oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching Orphanet:178566 Mycosis fungoides and variants oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref MESH:C538182 semapv:UnspecifiedMatching Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref OMIM:101805 semapv:UnspecifiedMatching Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref UMLS:C2931762 semapv:UnspecifiedMatching Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref MESH:C538185 semapv:UnspecifiedMatching Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref OMIM:601829 semapv:UnspecifiedMatching Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref UMLS:C1866168 semapv:UnspecifiedMatching Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref MESH:C538183 semapv:UnspecifiedMatching Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref OMIM:201170 semapv:UnspecifiedMatching Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref UMLS:C1860119 semapv:UnspecifiedMatching @@ -5671,10 +6608,13 @@ Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref icd11:LD Orphanet:178996 Acquired neutropenia oboInOwl:hasDbXref UMLS:C4543729 semapv:UnspecifiedMatching Orphanet:178996 Acquired neutropenia oboInOwl:hasDbXref icd11:4B00.01 semapv:UnspecifiedMatching Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MESH:D000080365 semapv:UnspecifiedMatching Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MedDRA:10072959 semapv:UnspecifiedMatching Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref OMIM:605808 semapv:UnspecifiedMatching Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref UMLS:C1853959 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching +Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref MESH:C537154 semapv:UnspecifiedMatching Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref OMIM:241310 semapv:UnspecifiedMatching @@ -5682,6 +6622,7 @@ Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref UMLS:C18 Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity oboInOwl:hasDbXref UMLS:C5680501 semapv:UnspecifiedMatching Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity oboInOwl:hasDbXref icd11:4A01 semapv:UnspecifiedMatching Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref MESH:C538063 semapv:UnspecifiedMatching Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref OMIM:229400 semapv:UnspecifiedMatching Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref UMLS:C2931720 semapv:UnspecifiedMatching @@ -5701,8 +6642,10 @@ Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXre Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref UMLS:C5191640 semapv:UnspecifiedMatching Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching +Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref OMIM:122600 semapv:UnspecifiedMatching Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref UMLS:C4274761 semapv:UnspecifiedMatching +Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref MESH:C562974 semapv:UnspecifiedMatching @@ -5729,14 +6672,20 @@ Orphanet:180 Choroideremia oboInOwl:hasDbXref MESH:D015794 semapv:UnspecifiedMat Orphanet:180 Choroideremia oboInOwl:hasDbXref MedDRA:10008791 semapv:UnspecifiedMatching Orphanet:180 Choroideremia oboInOwl:hasDbXref OMIM:303100 semapv:UnspecifiedMatching Orphanet:180 Choroideremia oboInOwl:hasDbXref UMLS:C0008525 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref icd11:9B61 semapv:UnspecifiedMatching Orphanet:180062 Uterovaginal malformation oboInOwl:hasDbXref UMLS:C5680488 semapv:UnspecifiedMatching Orphanet:180065 Non-syndromic uterovaginal malformation oboInOwl:hasDbXref UMLS:C5680487 semapv:UnspecifiedMatching Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts oboInOwl:hasDbXref UMLS:C5679589 semapv:UnspecifiedMatching Orphanet:180071 Unilateral aplasia of the Müllerian ducts oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching +Orphanet:180071 Unilateral aplasia of the Müllerian ducts oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching +Orphanet:180074 True unicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching Orphanet:180074 True unicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching Orphanet:180074 True unicornuate uterus oboInOwl:hasDbXref UMLS:C0266389 semapv:UnspecifiedMatching +Orphanet:180074 True unicornuate uterus oboInOwl:hasDbXref icd11:LB44.2 semapv:UnspecifiedMatching +Orphanet:180079 Pseudounicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching Orphanet:180079 Pseudounicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching Orphanet:180079 Pseudounicornuate uterus oboInOwl:hasDbXref UMLS:C4749300 semapv:UnspecifiedMatching +Orphanet:180079 Pseudounicornuate uterus oboInOwl:hasDbXref icd11:LB44.2 semapv:UnspecifiedMatching Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref MESH:D000093642 semapv:UnspecifiedMatching @@ -5762,6 +6711,7 @@ Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 sem Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref UMLS:C5680490 semapv:UnspecifiedMatching Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching Orphanet:180122 Septate uterus oboInOwl:hasDbXref MESH:D000093665 semapv:UnspecifiedMatching Orphanet:180122 Septate uterus oboInOwl:hasDbXref MedDRA:10062606 semapv:UnspecifiedMatching Orphanet:180122 Septate uterus oboInOwl:hasDbXref UMLS:C0152240 semapv:UnspecifiedMatching @@ -5781,24 +6731,32 @@ Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref MedDRA:10004550 semapv:Unsp Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref UMLS:C0266387 semapv:UnspecifiedMatching Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref MedDRA:10063146 semapv:UnspecifiedMatching Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref UMLS:C0266399 semapv:UnspecifiedMatching +Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref icd11:LB44.1 semapv:UnspecifiedMatching Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref ICD10:Q51.0 semapv:UnspecifiedMatching Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref ICD10:Q51.0 semapv:UnspecifiedMatching Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref UMLS:C5230999 semapv:UnspecifiedMatching +Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref icd11:LB44.0 semapv:UnspecifiedMatching +Orphanet:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref ICD10:Q51.5 semapv:UnspecifiedMatching Orphanet:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref ICD10:Q51.5 semapv:UnspecifiedMatching Orphanet:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref UMLS:C5190813 semapv:UnspecifiedMatching +Orphanet:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref icd11:LB43.1 semapv:UnspecifiedMatching Orphanet:180148 Syndromic uterovaginal malformation oboInOwl:hasDbXref UMLS:C5680492 semapv:UnspecifiedMatching Orphanet:180151 Rare vaginal malformation oboInOwl:hasDbXref UMLS:C5680493 semapv:UnspecifiedMatching Orphanet:180154 Septate vagina oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching Orphanet:180154 Septate vagina oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching Orphanet:180154 Septate vagina oboInOwl:hasDbXref UMLS:C0266411 semapv:UnspecifiedMatching +Orphanet:180154 Septate vagina oboInOwl:hasDbXref icd11:LB42.1 semapv:UnspecifiedMatching Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref UMLS:C1841680 semapv:UnspecifiedMatching +Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref icd11:LB42.1 semapv:UnspecifiedMatching Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref UMLS:C1856006 semapv:UnspecifiedMatching +Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref icd11:LB42.1 semapv:UnspecifiedMatching Orphanet:180163 Rare breast malformation oboInOwl:hasDbXref UMLS:C5680494 semapv:UnspecifiedMatching Orphanet:180170 Excess breast volume or number oboInOwl:hasDbXref UMLS:C5680496 semapv:UnspecifiedMatching Orphanet:180173 Deficient breast volume or number oboInOwl:hasDbXref UMLS:C5680495 semapv:UnspecifiedMatching @@ -5810,6 +6768,7 @@ Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref ICD10:Q83.1 semapv:Unsp Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref ICD10:Q83.1 semapv:UnspecifiedMatching Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref MedDRA:10049786 semapv:UnspecifiedMatching Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref UMLS:C0266010 semapv:UnspecifiedMatching +Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref icd11:LB62 semapv:UnspecifiedMatching Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref ICD10:Q83.0 semapv:UnspecifiedMatching Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref ICD10:Q83.0 semapv:UnspecifiedMatching Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref MESH:C562989 semapv:UnspecifiedMatching @@ -5832,17 +6791,23 @@ Orphanet:180220 Rare uterine adnexal tumor oboInOwl:hasDbXref UMLS:C5680483 sema Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 semapv:UnspecifiedMatching Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref UMLS:C0206659 semapv:UnspecifiedMatching Orphanet:180229 Polyembryoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:180229 Polyembryoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching Orphanet:180229 Polyembryoma oboInOwl:hasDbXref UMLS:C0334518 semapv:UnspecifiedMatching Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref UMLS:C0334524 semapv:UnspecifiedMatching +Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref icd11:2D4Y semapv:UnspecifiedMatching Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref icd11:XH2PS1 semapv:UnspecifiedMatching Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref ICD10:D28.2 semapv:UnspecifiedMatching Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref ICD10:D28.2 semapv:UnspecifiedMatching Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10053865 semapv:UnspecifiedMatching Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0346190 semapv:UnspecifiedMatching +Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref icd11:2F33 semapv:UnspecifiedMatching +Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref ICD10:C57.0 semapv:UnspecifiedMatching Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref ICD10:C57.0 semapv:UnspecifiedMatching Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10025915 semapv:UnspecifiedMatching Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0153579 semapv:UnspecifiedMatching @@ -5852,6 +6817,7 @@ Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 semapv:Unspecifie Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref UMLS:C0262659 semapv:UnspecifiedMatching Orphanet:180250 Rare breast tumor oboInOwl:hasDbXref UMLS:C5680484 semapv:UnspecifiedMatching Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching +Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref UMLS:C5680485 semapv:UnspecifiedMatching Orphanet:180257 Rare malignant breast tumor oboInOwl:hasDbXref UMLS:C5679588 semapv:UnspecifiedMatching Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref ICD10:D48.6 semapv:UnspecifiedMatching @@ -5859,15 +6825,21 @@ Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref ICD10:D48.6 sem Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MedDRA:10011813 semapv:UnspecifiedMatching Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref UMLS:C0238031 semapv:UnspecifiedMatching +Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref icd11:2F30.3 semapv:UnspecifiedMatching +Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref UMLS:C0346157 semapv:UnspecifiedMatching +Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref icd11:2F30.5 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MESH:D010144 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MedDRA:10033367 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref UMLS:C1704323 semapv:UnspecifiedMatching +Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref icd11:2E65.5 semapv:UnspecifiedMatching +Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref MESH:C564773 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref OMIM:273740 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref UMLS:C1848863 semapv:UnspecifiedMatching @@ -5882,6 +6854,7 @@ Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref OMIM:26 Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref UMLS:C4302546 semapv:UnspecifiedMatching Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref MESH:C536385 semapv:UnspecifiedMatching Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref OMIM:227260 semapv:UnspecifiedMatching Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref UMLS:C1744559 semapv:UnspecifiedMatching @@ -5891,6 +6864,7 @@ Orphanet:180772 Rare disease with autism oboInOwl:hasDbXref UMLS:C5680471 semapv Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation oboInOwl:hasDbXref UMLS:C5680470 semapv:UnspecifiedMatching Orphanet:180779 Syndromic diaphragmatic or thoracic malformation oboInOwl:hasDbXref UMLS:C5680469 semapv:UnspecifiedMatching Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref MESH:C536180 semapv:UnspecifiedMatching Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref OMIM:601375 semapv:UnspecifiedMatching Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref UMLS:C1832411 semapv:UnspecifiedMatching @@ -5899,6 +6873,7 @@ Orphanet:180821 Rare gastroesophageal tumor oboInOwl:hasDbXref UMLS:C5680473 sem Orphanet:180824 Rare tumor of pancreas oboInOwl:hasDbXref MedDRA:10061902 semapv:UnspecifiedMatching Orphanet:180824 Rare tumor of pancreas oboInOwl:hasDbXref UMLS:C5679585 semapv:UnspecifiedMatching Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref MESH:C535621 semapv:UnspecifiedMatching Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref UMLS:C2930953 semapv:UnspecifiedMatching Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching @@ -5907,12 +6882,15 @@ Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10 Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:617337 semapv:UnspecifiedMatching Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C5680003 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching +Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref MESH:C537741 semapv:UnspecifiedMatching Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref OMIM:601319 semapv:UnspecifiedMatching @@ -5939,6 +6917,7 @@ Orphanet:181408 Rare hyperparathyroidism oboInOwl:hasDbXref UMLS:C5680614 semapv Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref MESH:D047808 semapv:UnspecifiedMatching Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref MedDRA:10061630 semapv:UnspecifiedMatching Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref UMLS:C0302280 semapv:UnspecifiedMatching +Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref icd11:5A71 semapv:UnspecifiedMatching Orphanet:181415 Rare primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C5679597 semapv:UnspecifiedMatching Orphanet:181419 Rare hypoaldosteronism oboInOwl:hasDbXref UMLS:C5680606 semapv:UnspecifiedMatching Orphanet:181422 Rare hyperlipidemia oboInOwl:hasDbXref UMLS:C5680607 semapv:UnspecifiedMatching @@ -5961,7 +6940,10 @@ Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref UMLS:C1851858 semapv:UnspecifiedMatching Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.0 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.0 semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.1 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.1 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.2 semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.2 semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.8 semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.8 semapv:UnspecifiedMatching @@ -5970,6 +6952,7 @@ Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.9 semapv:UnspecifiedMatc Orphanet:182 Chromomycosis oboInOwl:hasDbXref MESH:D002862 semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref MedDRA:10008803 semapv:UnspecifiedMatching Orphanet:182 Chromomycosis oboInOwl:hasDbXref UMLS:C0008582 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref icd11:1F24 semapv:UnspecifiedMatching Orphanet:182043 Rare constitutional hemolytic anemia oboInOwl:hasDbXref UMLS:C5680605 semapv:UnspecifiedMatching Orphanet:182047 Rare acquired hemolytic anemia oboInOwl:hasDbXref UMLS:C5680604 semapv:UnspecifiedMatching Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching @@ -5978,6 +6961,7 @@ Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref MESH:C535507 semapv:Unsp Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref MedDRA:10079437 semapv:UnspecifiedMatching Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref UMLS:C5200934 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref icd11:3B64.01 semapv:UnspecifiedMatching Orphanet:182054 Rare thrombotic disease of hematologic origin oboInOwl:hasDbXref UMLS:C5680603 semapv:UnspecifiedMatching Orphanet:182058 Primary orthostatic hypotension oboInOwl:hasDbXref UMLS:C5680599 semapv:UnspecifiedMatching Orphanet:182061 Cerebellar malformation oboInOwl:hasDbXref UMLS:C4025708 semapv:UnspecifiedMatching @@ -6000,12 +6984,15 @@ Orphanet:182086 Acquired peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680596 Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MESH:D000081029 semapv:UnspecifiedMatching Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10064911 semapv:UnspecifiedMatching Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C2973725 semapv:UnspecifiedMatching +Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:182095 Interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching Orphanet:182095 Interstitial lung disease oboInOwl:hasDbXref MedDRA:10022611 semapv:UnspecifiedMatching Orphanet:182095 Interstitial lung disease oboInOwl:hasDbXref UMLS:C0206062 semapv:UnspecifiedMatching Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref MESH:D011009 semapv:UnspecifiedMatching Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref MedDRA:10035653 semapv:UnspecifiedMatching Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref UMLS:C0032273 semapv:UnspecifiedMatching +Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref icd11:CA60 semapv:UnspecifiedMatching +Orphanet:182101 Idiopathic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching Orphanet:182101 Idiopathic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching Orphanet:182101 Idiopathic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C3872845 semapv:UnspecifiedMatching Orphanet:182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease oboInOwl:hasDbXref UMLS:C5679595 semapv:UnspecifiedMatching @@ -6020,6 +7007,7 @@ Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C38.3 semapv:Uns Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C48.8 semapv:UnspecifiedMatching Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C48.8 semapv:UnspecifiedMatching Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref MESH:D018237 semapv:UnspecifiedMatching Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref MedDRA:10018207 semapv:UnspecifiedMatching Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref UMLS:C5190513 semapv:UnspecifiedMatching @@ -6027,6 +7015,7 @@ Orphanet:182130 Tumor of endocrine glands oboInOwl:hasDbXref MESH:D004701 semapv Orphanet:182130 Tumor of endocrine glands oboInOwl:hasDbXref MedDRA:10061121 semapv:UnspecifiedMatching Orphanet:182130 Tumor of endocrine glands oboInOwl:hasDbXref UMLS:C0014132 semapv:UnspecifiedMatching Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref MESH:C537997 semapv:UnspecifiedMatching Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref OMIM:127800 semapv:UnspecifiedMatching Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref UMLS:C0432282 semapv:UnspecifiedMatching @@ -6035,20 +7024,24 @@ Orphanet:182222 Rare systemic disease oboInOwl:hasDbXref UMLS:C5680585 semapv:Un Orphanet:182228 Systemic autoimmune disease oboInOwl:hasDbXref UMLS:C2895206 semapv:UnspecifiedMatching Orphanet:182231 Rare rheumatologic disease oboInOwl:hasDbXref UMLS:C5680586 semapv:UnspecifiedMatching Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MESH:C537038 semapv:UnspecifiedMatching Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MedDRA:10062600 semapv:UnspecifiedMatching Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref OMIM:226960 semapv:UnspecifiedMatching Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref UMLS:C0796021 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref icd11:LD24.6Y semapv:UnspecifiedMatching Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4707857 semapv:UnspecifiedMatching Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref MESH:C538064 semapv:UnspecifiedMatching Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:305620 semapv:UnspecifiedMatching Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:617137 semapv:UnspecifiedMatching Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265293 semapv:UnspecifiedMatching Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref MESH:C535657 semapv:UnspecifiedMatching Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref OMIM:603671 semapv:UnspecifiedMatching Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref UMLS:C0796182 semapv:UnspecifiedMatching @@ -6059,6 +7052,7 @@ Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref IC Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D015267 semapv:UnspecifiedMatching Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10048594 semapv:UnspecifiedMatching Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C0008728 semapv:UnspecifiedMatching +Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref icd11:4A44.A2 semapv:UnspecifiedMatching Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 semapv:UnspecifiedMatching @@ -6070,6 +7064,7 @@ Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref MESH:C535537 semapv:Unspeci Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref OMIM:109120 semapv:UnspecifiedMatching Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref UMLS:C2930925 semapv:UnspecifiedMatching Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref MESH:C535282 semapv:UnspecifiedMatching Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref MedDRA:10087908 semapv:UnspecifiedMatching Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref OMIM:259775 semapv:UnspecifiedMatching @@ -6152,21 +7147,28 @@ Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref MedDRA:10069 Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C0085110 semapv:UnspecifiedMatching Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref UMLS:C5190885 semapv:UnspecifiedMatching +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref UMLS:C5190886 semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:183669 Agammaglobulinemia oboInOwl:hasDbXref MESH:D000361 semapv:UnspecifiedMatching Orphanet:183669 Agammaglobulinemia oboInOwl:hasDbXref MedDRA:10001471 semapv:UnspecifiedMatching Orphanet:183669 Agammaglobulinemia oboInOwl:hasDbXref UMLS:C0001768 semapv:UnspecifiedMatching Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref MESH:C564131 semapv:UnspecifiedMatching Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref OMIM:614102 semapv:UnspecifiedMatching Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref UMLS:C3279824 semapv:UnspecifiedMatching +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref icd11:4A01.04 semapv:UnspecifiedMatching +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:608233 semapv:UnspecifiedMatching Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:617050 semapv:UnspecifiedMatching @@ -6175,9 +7177,11 @@ Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbX Orphanet:183681 Functional neutrophil defect oboInOwl:hasDbXref UMLS:C5681846 semapv:UnspecifiedMatching Orphanet:183681 Functional neutrophil defect oboInOwl:hasDbXref icd11:4A00.0 semapv:UnspecifiedMatching Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref MESH:C536935 semapv:UnspecifiedMatching Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:191420 semapv:UnspecifiedMatching Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1860615 semapv:UnspecifiedMatching +Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching @@ -6199,15 +7203,18 @@ Orphanet:183770 Rare genetic immune disease oboInOwl:hasDbXref UMLS:C5680526 sem Orphanet:1838 Metaphyseal dysplasia without hypotrichosis oboInOwl:hasDbXref OMIM:250460 semapv:UnspecifiedMatching Orphanet:1838 Metaphyseal dysplasia without hypotrichosis oboInOwl:hasDbXref UMLS:C1834821 semapv:UnspecifiedMatching Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref ICD10:K13.7 semapv:UnspecifiedMatching +Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref ICD10:K13.7 semapv:UnspecifiedMatching Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref MESH:C536476 semapv:UnspecifiedMatching Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref OMIM:158310 semapv:UnspecifiedMatching Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref UMLS:C1274795 semapv:UnspecifiedMatching Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref icd11:DA02.0 semapv:UnspecifiedMatching Orphanet:184 Cherubism oboInOwl:hasDbXref ICD10:K10.8 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref ICD10:K10.8 semapv:UnspecifiedMatching Orphanet:184 Cherubism oboInOwl:hasDbXref MESH:D002636 semapv:UnspecifiedMatching Orphanet:184 Cherubism oboInOwl:hasDbXref MedDRA:10070535 semapv:UnspecifiedMatching Orphanet:184 Cherubism oboInOwl:hasDbXref OMIM:118400 semapv:UnspecifiedMatching Orphanet:184 Cherubism oboInOwl:hasDbXref UMLS:C0008029 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref icd11:LD24.22 semapv:UnspecifiedMatching Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref MESH:C565896 semapv:UnspecifiedMatching @@ -6234,6 +7241,7 @@ Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref MESH:D021782 sema Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C3714581 semapv:UnspecifiedMatching Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref icd11:LB30.9 semapv:UnspecifiedMatching Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching +Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref OMIM:312550 semapv:UnspecifiedMatching Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref UMLS:C4275241 semapv:UnspecifiedMatching Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching @@ -6249,9 +7257,11 @@ Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXre Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref UMLS:C4706658 semapv:UnspecifiedMatching Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref MESH:C537625 semapv:UnspecifiedMatching Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref OMIM:601187 semapv:UnspecifiedMatching Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref UMLS:C0796046 semapv:UnspecifiedMatching +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref MESH:D008105 semapv:UnspecifiedMatching @@ -6264,9 +7274,11 @@ Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614221 semapv:U Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0008312 semapv:UnspecifiedMatching Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref icd11:DB96.1 semapv:UnspecifiedMatching Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching +Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref MESH:C566844 semapv:UnspecifiedMatching Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref UMLS:C1868678 semapv:UnspecifiedMatching +Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref icd11:LD24.02 semapv:UnspecifiedMatching Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref MESH:C564774 semapv:UnspecifiedMatching @@ -6279,11 +7291,13 @@ Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXre Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:1866 Focal, segmental or multifocal dystonia oboInOwl:hasDbXref UMLS:C5680914 semapv:UnspecifiedMatching Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref MESH:C563065 semapv:UnspecifiedMatching Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref OMIM:302000 semapv:UnspecifiedMatching Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref UMLS:C0795974 semapv:UnspecifiedMatching Orphanet:187 Citrullinemia oboInOwl:hasDbXref MESH:D020159 semapv:UnspecifiedMatching Orphanet:187 Citrullinemia oboInOwl:hasDbXref UMLS:C0175683 semapv:UnspecifiedMatching +Orphanet:187 Citrullinemia oboInOwl:hasDbXref icd11:5C50.A3 semapv:UnspecifiedMatching Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref MedDRA:10083940 semapv:UnspecifiedMatching @@ -6293,6 +7307,7 @@ Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:304030 semapv:U Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:613093 semapv:UnspecifiedMatching Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref UMLS:C0271092 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref MESH:D000071700 semapv:UnspecifiedMatching @@ -6326,33 +7341,44 @@ Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:616502 semapv:Unspecifi Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:618555 semapv:UnspecifiedMatching Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:619531 semapv:UnspecifiedMatching Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref UMLS:C4085590 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref MESH:C000596385 semapv:UnspecifiedMatching Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref OMIM:217080 semapv:UnspecifiedMatching Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref UMLS:C3495589 semapv:UnspecifiedMatching +Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref MESH:C537661 semapv:UnspecifiedMatching Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref OMIM:254000 semapv:UnspecifiedMatching Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931578 semapv:UnspecifiedMatching Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref OMIM:277320 semapv:UnspecifiedMatching Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref UMLS:C1848586 semapv:UnspecifiedMatching +Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref icd11:DA90.2 semapv:UnspecifiedMatching +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref MESH:C535897 semapv:UnspecifiedMatching Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref OMIM:254110 semapv:UnspecifiedMatching Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref UMLS:C0270968 semapv:UnspecifiedMatching +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching +Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref MESH:C563593 semapv:UnspecifiedMatching Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref UMLS:C3149695 semapv:UnspecifiedMatching Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref ICD10:I78.8 semapv:UnspecifiedMatching +Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref ICD10:I78.8 semapv:UnspecifiedMatching Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MedDRA:10007196 semapv:UnspecifiedMatching Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref UMLS:C0343084 semapv:UnspecifiedMatching +Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref icd11:BD5Y semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref ICD10:Q22.5 semapv:UnspecifiedMatching Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref ICD10:Q22.5 semapv:UnspecifiedMatching Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref MESH:D004437 semapv:UnspecifiedMatching Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref MedDRA:10014075 semapv:UnspecifiedMatching @@ -6364,6 +7390,7 @@ Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesi Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref MESH:C565604 semapv:UnspecifiedMatching Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref OMIM:225050 semapv:UnspecifiedMatching Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1857052 semapv:UnspecifiedMatching +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:224800 semapv:UnspecifiedMatching @@ -6375,6 +7402,7 @@ Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:ha Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref UMLS:C2931115 semapv:UnspecifiedMatching Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref icd11:LA12.Y semapv:UnspecifiedMatching Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref ICD10:Q12.1 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref ICD10:Q12.1 semapv:UnspecifiedMatching Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref MESH:D004479 semapv:UnspecifiedMatching Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref MedDRA:10014145 semapv:UnspecifiedMatching Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:129600 semapv:UnspecifiedMatching @@ -6387,8 +7415,11 @@ Orphanet:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome oboInO Orphanet:1889 Ectrodactyly-cleft palate syndrome oboInOwl:hasDbXref OMIM:129830 semapv:UnspecifiedMatching Orphanet:1889 Ectrodactyly-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1851848 semapv:UnspecifiedMatching Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162361 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching +Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C537446 semapv:UnspecifiedMatching Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:246555 semapv:UnspecifiedMatching @@ -6396,6 +7427,7 @@ Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl: Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q69.9 semapv:UnspecifiedMatching Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q69.9 semapv:UnspecifiedMatching Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref OMIM:225290 semapv:UnspecifiedMatching Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref UMLS:C4749762 semapv:UnspecifiedMatching Orphanet:1894 Ectrodactyly-spina bifida-cardiopathy syndrome oboInOwl:hasDbXref UMLS:C2931393 semapv:UnspecifiedMatching @@ -6432,6 +7464,7 @@ Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79 Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130060 semapv:UnspecifiedMatching Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617821 semapv:UnspecifiedMatching Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268345 semapv:UnspecifiedMatching +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref MESH:C535306 semapv:UnspecifiedMatching Orphanet:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref MedDRA:10078971 semapv:UnspecifiedMatching Orphanet:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C2746066 semapv:UnspecifiedMatching @@ -6441,31 +7474,40 @@ Orphanet:190 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMat Orphanet:190 Coats disease oboInOwl:hasDbXref MedDRA:10015901 semapv:UnspecifiedMatching Orphanet:190 Coats disease oboInOwl:hasDbXref OMIM:300216 semapv:UnspecifiedMatching Orphanet:190 Coats disease oboInOwl:hasDbXref UMLS:C0154832 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref UMLS:C0268342 semapv:UnspecifiedMatching +Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225410 semapv:UnspecifiedMatching Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2700425 semapv:UnspecifiedMatching +Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref ICD10:A48.8 semapv:UnspecifiedMatching Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref ICD10:A48.8 semapv:UnspecifiedMatching Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref MESH:D016873 semapv:UnspecifiedMatching Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref UMLS:C0085399 semapv:UnspecifiedMatching +Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref icd11:1C3Y semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MESH:C536525 semapv:UnspecifiedMatching Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MedDRA:10016524 semapv:UnspecifiedMatching Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref OMIM:609442 semapv:UnspecifiedMatching Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref UMLS:C0236026 semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref icd11:LD2F.03 semapv:UnspecifiedMatching +Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref MedDRA:10071183 semapv:UnspecifiedMatching Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref UMLS:C0432367 semapv:UnspecifiedMatching Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref UMLS:C4275138 semapv:UnspecifiedMatching Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref MESH:D003057 semapv:UnspecifiedMatching Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref MedDRA:10009835 semapv:UnspecifiedMatching Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching @@ -6477,10 +7519,13 @@ Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610756 semapv:Unspecified Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref UMLS:C0009207 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref OMIM:228355 semapv:UnspecifiedMatching Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref UMLS:C4273860 semapv:UnspecifiedMatching +Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref icd11:5A00.03 semapv:UnspecifiedMatching +Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref UMLS:C0432371 semapv:UnspecifiedMatching Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching @@ -6491,29 +7536,37 @@ Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref MedDRA:10016508 semapv Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref UMLS:C0265372 semapv:UnspecifiedMatching Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref MESH:C537798 semapv:UnspecifiedMatching Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref UMLS:C0265373 semapv:UnspecifiedMatching Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref ICD10:Q86.2 semapv:UnspecifiedMatching +Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref ICD10:Q86.2 semapv:UnspecifiedMatching Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref MESH:C536683 semapv:UnspecifiedMatching Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref MedDRA:10051445 semapv:UnspecifiedMatching Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref UMLS:C0265374 semapv:UnspecifiedMatching +Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref icd11:LD2F.02 semapv:UnspecifiedMatching Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref ICD10:Q86.0 semapv:UnspecifiedMatching Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref ICD10:Q86.0 semapv:UnspecifiedMatching Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MESH:D063647 semapv:UnspecifiedMatching Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MedDRA:10016845 semapv:UnspecifiedMatching Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref UMLS:C0015923 semapv:UnspecifiedMatching +Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref icd11:LD2F.00 semapv:UnspecifiedMatching +Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref MedDRA:10012780 semapv:UnspecifiedMatching Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref UMLS:C0853695 semapv:UnspecifiedMatching Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref icd11:LB44.6 semapv:UnspecifiedMatching Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching +Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref UMLS:C0265376 semapv:UnspecifiedMatching Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref UMLS:C0432373 semapv:UnspecifiedMatching Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref UMLS:C4275281 semapv:UnspecifiedMatching Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -6524,13 +7577,17 @@ Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref OMIM:303600 semapv:Unspeci Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS:C0265252 semapv:UnspecifiedMatching Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref UMLS:C2931737 semapv:UnspecifiedMatching Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref UMLS:C4510379 semapv:UnspecifiedMatching Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching Orphanet:1926 Diabetic embryopathy oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching +Orphanet:1926 Diabetic embryopathy oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching Orphanet:1926 Diabetic embryopathy oboInOwl:hasDbXref UMLS:C3830518 semapv:UnspecifiedMatching +Orphanet:1926 Diabetic embryopathy oboInOwl:hasDbXref icd11:KB60.1 semapv:UnspecifiedMatching Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref OMIM:139750 semapv:UnspecifiedMatching @@ -6541,6 +7598,8 @@ Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref MESH:C535735 semapv: Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref MedDRA:10010456 semapv:UnspecifiedMatching Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref OMIM:130710 semapv:UnspecifiedMatching Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref UMLS:C0265797 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref icd11:LA75.5 semapv:UnspecifiedMatching +Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MESH:C535291 semapv:UnspecifiedMatching Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MedDRA:10071141 semapv:UnspecifiedMatching @@ -6552,6 +7611,8 @@ Orphanet:193 Cohen syndrome oboInOwl:hasDbXref MESH:C536438 semapv:UnspecifiedMa Orphanet:193 Cohen syndrome oboInOwl:hasDbXref MedDRA:10049066 semapv:UnspecifiedMatching Orphanet:193 Cohen syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching Orphanet:193 Cohen syndrome oboInOwl:hasDbXref UMLS:C0265223 semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:B00.4+ semapv:UnspecifiedMatching Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:B00.4+ semapv:UnspecifiedMatching Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching @@ -6563,13 +7624,18 @@ Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614850 s Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:616532 semapv:UnspecifiedMatching Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:617900 semapv:UnspecifiedMatching Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref UMLS:C0276226 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref icd11:1F00.21 semapv:UnspecifiedMatching +Orphanet:1931 Frontal encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching Orphanet:1931 Frontal encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching Orphanet:1931 Frontal encephalocele oboInOwl:hasDbXref UMLS:C0431289 semapv:UnspecifiedMatching +Orphanet:1931 Frontal encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref UMLS:C2749864 semapv:UnspecifiedMatching Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref MedDRA:10071545 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching @@ -6589,17 +7655,23 @@ Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:6 Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref UMLS:C0393706 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref icd11:8A62.Y semapv:UnspecifiedMatching Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:609304 semapv:UnspecifiedMatching Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:617105 semapv:UnspecifiedMatching Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref UMLS:C0270855 semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref icd11:8A61.0Y semapv:UnspecifiedMatching +Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref OMIM:135950 semapv:UnspecifiedMatching Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref UMLS:C4512073 semapv:UnspecifiedMatching Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref MedDRA:10085031 semapv:UnspecifiedMatching Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref OMIM:607631 semapv:UnspecifiedMatching Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref UMLS:C4317339 semapv:UnspecifiedMatching +Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref icd11:8A61.31 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref MedDRA:10081179 semapv:UnspecifiedMatching Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching @@ -6608,13 +7680,16 @@ Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:618587 semapv:U Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref UMLS:C0393702 semapv:UnspecifiedMatching Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref icd11:8A61.22 semapv:UnspecifiedMatching Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref UMLS:C4510564 semapv:UnspecifiedMatching Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref MESH:D019305 semapv:UnspecifiedMatching Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref MedDRA:10070530 semapv:UnspecifiedMatching Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:117100 semapv:UnspecifiedMatching Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref UMLS:C0376532 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref icd11:8A61.20 semapv:UnspecifiedMatching Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref MESH:C537213 semapv:UnspecifiedMatching @@ -6622,24 +7697,30 @@ Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref OMIM:226750 s Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref UMLS:C0406740 semapv:UnspecifiedMatching Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref OMIM:610003 semapv:UnspecifiedMatching Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref UMLS:C1864923 semapv:UnspecifiedMatching +Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref MESH:C537662 semapv:UnspecifiedMatching Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:601352 semapv:UnspecifiedMatching Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C2931579 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MedDRA:10067866 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:269720 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:608217 semapv:UnspecifiedMatching Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref icd11:8A61.0Y semapv:UnspecifiedMatching +Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref ICD10:Q92.8 semapv:UnspecifiedMatching Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref ICD10:Q92.8 semapv:UnspecifiedMatching Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref MESH:C535918 semapv:UnspecifiedMatching Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref OMIM:115470 semapv:UnspecifiedMatching Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref UMLS:C0265493 semapv:UnspecifiedMatching +Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref icd11:LD41.P semapv:UnspecifiedMatching Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref MESH:C535497 semapv:UnspecifiedMatching @@ -6652,6 +7733,7 @@ Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:ha Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref UMLS:C1833676 semapv:UnspecifiedMatching Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref MESH:C535513 semapv:UnspecifiedMatching Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref OMIM:227090 semapv:UnspecifiedMatching Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref UMLS:C1856898 semapv:UnspecifiedMatching @@ -6659,19 +7741,24 @@ Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 sema Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref OMIM:133190 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref UMLS:C1851481 semapv:UnspecifiedMatching +Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref ICD10:C30.0 semapv:UnspecifiedMatching Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref ICD10:C30.0 semapv:UnspecifiedMatching Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref MESH:D018304 semapv:UnspecifiedMatching Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref UMLS:C0206717 semapv:UnspecifiedMatching +Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref icd11:2C20.3 semapv:UnspecifiedMatching Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref icd11:XH50L1 semapv:UnspecifiedMatching Orphanet:1959 Evans syndrome oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching Orphanet:1959 Evans syndrome oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching Orphanet:1959 Evans syndrome oboInOwl:hasDbXref MESH:C536380 semapv:UnspecifiedMatching Orphanet:1959 Evans syndrome oboInOwl:hasDbXref MedDRA:10053873 semapv:UnspecifiedMatching Orphanet:1959 Evans syndrome oboInOwl:hasDbXref UMLS:C0272126 semapv:UnspecifiedMatching +Orphanet:1959 Evans syndrome oboInOwl:hasDbXref icd11:3A20.5 semapv:UnspecifiedMatching +Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref OMIM:133690 semapv:UnspecifiedMatching Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref UMLS:C4518772 semapv:UnspecifiedMatching +Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref icd11:LD24.21 semapv:UnspecifiedMatching Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref OMIM:133750 semapv:UnspecifiedMatching Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4749763 semapv:UnspecifiedMatching Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -6702,13 +7789,16 @@ Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref OMIM:227330 semapv:UnspecifiedMatching Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref UMLS:C1856871 semapv:UnspecifiedMatching Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref OMIM:233805 semapv:UnspecifiedMatching Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref UMLS:C2931279 semapv:UnspecifiedMatching +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref icd11:LD27.6Z semapv:UnspecifiedMatching Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 semapv:UnspecifiedMatching Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 semapv:UnspecifiedMatching Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref UMLS:C0268353 semapv:UnspecifiedMatching +Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref MedDRA:10059626 semapv:UnspecifiedMatching @@ -6720,12 +7810,14 @@ Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:6 Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref UMLS:C0393590 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref icd11:LD20.4 semapv:UnspecifiedMatching Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome oboInOwl:hasDbXref ICD10:G93.3 semapv:UnspecifiedMatching +Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome oboInOwl:hasDbXref ICD10:G93.3 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref MESH:C537078 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref UMLS:C0403445 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref MESH:C537917 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref MedDRA:10079731 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref OMIM:228250 semapv:UnspecifiedMatching @@ -6734,6 +7826,7 @@ Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref icd11:LD26.0 semapv:Uns Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0345375 semapv:UnspecifiedMatching +Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref icd11:LB9A.8 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref MESH:C537916 semapv:UnspecifiedMatching @@ -6742,6 +7835,7 @@ Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref OMIM:134780 semapv:Unsp Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref UMLS:C0265263 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MESH:D003635 semapv:UnspecifiedMatching Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MedDRA:10056354 semapv:UnspecifiedMatching Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:122470 semapv:UnspecifiedMatching @@ -6758,11 +7852,14 @@ Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MESH:C535 Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MedDRA:10077389 semapv:UnspecifiedMatching Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref OMIM:234810 semapv:UnspecifiedMatching Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref UMLS:C0340548 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref ICD10:E24.1 semapv:UnspecifiedMatching Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref ICD10:E24.1 semapv:UnspecifiedMatching Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref MESH:D009347 semapv:UnspecifiedMatching Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref MedDRA:10028913 semapv:UnspecifiedMatching Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref UMLS:C0027577 semapv:UnspecifiedMatching +Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref icd11:5A70.3 semapv:UnspecifiedMatching +Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10:E27.8 semapv:UnspecifiedMatching Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10:E27.8 semapv:UnspecifiedMatching Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref MESH:C565152 semapv:UnspecifiedMatching Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OMIM:611489 semapv:UnspecifiedMatching @@ -6771,6 +7868,7 @@ Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:Unspeci Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref MedDRA:10035154 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref UMLS:C0158360 semapv:UnspecifiedMatching +Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref icd11:FB51.Y semapv:UnspecifiedMatching Orphanet:199257 Superficial fibromatosis oboInOwl:hasDbXref UMLS:C0406571 semapv:UnspecifiedMatching Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching @@ -6780,6 +7878,8 @@ Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref icd11:EE61 sem Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref UMLS:C1318562 semapv:UnspecifiedMatching +Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref MESH:D000071070 semapv:UnspecifiedMatching Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref MedDRA:10081235 semapv:UnspecifiedMatching @@ -6787,27 +7887,34 @@ Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref OMIM:151900 sem Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref UMLS:C1275273 semapv:UnspecifiedMatching Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref icd11:2E80.0Z semapv:UnspecifiedMatching Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching +Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref MESH:C565951 semapv:UnspecifiedMatching Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref OMIM:206550 semapv:UnspecifiedMatching Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref UMLS:C1859784 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref MESH:C535634 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref UMLS:C2029348 semapv:UnspecifiedMatching +Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref icd11:EE01.0 semapv:UnspecifiedMatching Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 semapv:UnspecifiedMatching Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 semapv:UnspecifiedMatching Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:115300 semapv:UnspecifiedMatching Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:277350 semapv:UnspecifiedMatching Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref UMLS:C4511672 semapv:UnspecifiedMatching +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref icd11:5C63.Y semapv:UnspecifiedMatching Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref UMLS:C0266150 semapv:UnspecifiedMatching +Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref icd11:LB13.Y semapv:UnspecifiedMatching Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref OMIM:201400 semapv:UnspecifiedMatching Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref UMLS:C4055196 semapv:UnspecifiedMatching +Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref UMLS:C4751433 semapv:UnspecifiedMatching +Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:1993 Pai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1993 Pai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1993 Pai syndrome oboInOwl:hasDbXref MESH:C536135 semapv:UnspecifiedMatching @@ -6815,6 +7922,8 @@ Orphanet:1993 Pai syndrome oboInOwl:hasDbXref OMIM:155145 semapv:UnspecifiedMatc Orphanet:1993 Pai syndrome oboInOwl:hasDbXref UMLS:C1835087 semapv:UnspecifiedMatching Orphanet:1993 Pai syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching @@ -6831,7 +7940,10 @@ Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:612858 semapv:Unspeci Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref UMLS:C1837217 semapv:UnspecifiedMatching Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref icd11:LA40 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.0 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.0 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.1 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.1 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.2 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.2 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.3 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.3 semapv:UnspecifiedMatching @@ -6860,8 +7972,12 @@ Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:616788 semapv:Unspecifi Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:618149 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref UMLS:C0158646 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA40 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA41 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA42 semapv:UnspecifiedMatching +Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref ICD10:Q99.0 semapv:UnspecifiedMatching Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref ICD10:Q99.0 semapv:UnspecifiedMatching Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref UMLS:C5679592 semapv:UnspecifiedMatching +Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref icd11:LD56 semapv:UnspecifiedMatching Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching @@ -6881,10 +7997,13 @@ Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:Unspecifie Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref MESH:D009877 semapv:UnspecifiedMatching Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref MedDRA:10014801 semapv:UnspecifiedMatching Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref UMLS:C0014236 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref icd11:9C21 semapv:UnspecifiedMatching +Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref UMLS:C4305155 semapv:UnspecifiedMatching Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref UMLS:C4511057 semapv:UnspecifiedMatching Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -6901,10 +8020,14 @@ Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref ICD10:G71.8 s Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref OMIM:612954 semapv:UnspecifiedMatching Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref UMLS:C4509880 semapv:UnspecifiedMatching +Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref icd11:8C76 semapv:UnspecifiedMatching +Orphanet:199343 EAST syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:199343 EAST syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:199343 EAST syndrome oboInOwl:hasDbXref MESH:C557674 semapv:UnspecifiedMatching Orphanet:199343 EAST syndrome oboInOwl:hasDbXref OMIM:612780 semapv:UnspecifiedMatching Orphanet:199343 EAST syndrome oboInOwl:hasDbXref UMLS:C2748572 semapv:UnspecifiedMatching +Orphanet:199343 EAST syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching @@ -6914,27 +8037,35 @@ Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:612953 Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751842 semapv:UnspecifiedMatching Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MESH:C563990 semapv:UnspecifiedMatching Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MedDRA:10081315 semapv:UnspecifiedMatching Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C1838577 semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref icd11:8B22.C1 semapv:UnspecifiedMatching Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref MESH:C538272 semapv:UnspecifiedMatching Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref UMLS:C2931789 semapv:UnspecifiedMatching Orphanet:199627 Atypical autism oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching +Orphanet:199627 Atypical autism oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching Orphanet:199627 Atypical autism oboInOwl:hasDbXref MedDRA:10003747 semapv:UnspecifiedMatching Orphanet:199627 Atypical autism oboInOwl:hasDbXref UMLS:C0338986 semapv:UnspecifiedMatching +Orphanet:199627 Atypical autism oboInOwl:hasDbXref icd11:6A02.Y semapv:UnspecifiedMatching Orphanet:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref UMLS:C4707794 semapv:UnspecifiedMatching Orphanet:199633 Non-syndromic cerebral malformation oboInOwl:hasDbXref UMLS:C0266449 semapv:UnspecifiedMatching Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature oboInOwl:hasDbXref UMLS:C5680521 semapv:UnspecifiedMatching Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref MedDRA:10027534 semapv:UnspecifiedMatching Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref UMLS:C0025958 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching @@ -6943,6 +8074,7 @@ Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:Uns Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref MESH:D004677 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref MedDRA:10014617 semapv:UnspecifiedMatching Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref UMLS:C5680519 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref MESH:C536188 semapv:UnspecifiedMatching @@ -6957,6 +8089,7 @@ Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref OMIM:246450 s Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref UMLS:C0268601 semapv:UnspecifiedMatching Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref UMLS:C5680463 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref icd11:LA05.3 semapv:UnspecifiedMatching Orphanet:200037 Paroxysmal dystonia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching @@ -6968,23 +8101,29 @@ Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboIn Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref UMLS:C4274888 semapv:UnspecifiedMatching +Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref MESH:C537875 semapv:UnspecifiedMatching Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref UMLS:C1840311 semapv:UnspecifiedMatching Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref OMIM:610984 semapv:UnspecifiedMatching Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref UMLS:C5191010 semapv:UnspecifiedMatching Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref MESH:C562875 semapv:UnspecifiedMatching Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref UMLS:C0398777 semapv:UnspecifiedMatching Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching +Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref UMLS:C4518460 semapv:UnspecifiedMatching Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref OMIM:203000 semapv:UnspecifiedMatching Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref UMLS:C4302677 semapv:UnspecifiedMatching Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -6994,6 +8133,7 @@ Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref OMIM:600460 semapv:Un Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref UMLS:C1838121 semapv:UnspecifiedMatching Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:201 Cowden syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:201 Cowden syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching Orphanet:201 Cowden syndrome oboInOwl:hasDbXref MedDRA:10051906 semapv:UnspecifiedMatching Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching @@ -7002,6 +8142,7 @@ Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615108 semapv:UnspecifiedMa Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615109 semapv:UnspecifiedMatching Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:616858 semapv:UnspecifiedMatching Orphanet:201 Cowden syndrome oboInOwl:hasDbXref UMLS:C0018553 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref OMIM:216300 semapv:UnspecifiedMatching @@ -7012,10 +8153,12 @@ Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref MES Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref OMIM:181180 semapv:UnspecifiedMatching Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref UMLS:C1867023 semapv:UnspecifiedMatching Orphanet:2014 Cleft palate oboInOwl:hasDbXref ICD10:Q35 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref ICD10:Q35 semapv:UnspecifiedMatching Orphanet:2014 Cleft palate oboInOwl:hasDbXref MESH:D002972 semapv:UnspecifiedMatching Orphanet:2014 Cleft palate oboInOwl:hasDbXref MedDRA:10009269 semapv:UnspecifiedMatching Orphanet:2014 Cleft palate oboInOwl:hasDbXref OMIM:119540 semapv:UnspecifiedMatching Orphanet:2014 Cleft palate oboInOwl:hasDbXref UMLS:C0008925 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref icd11:LA42 semapv:UnspecifiedMatching Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C4304704 semapv:UnspecifiedMatching @@ -7025,22 +8168,27 @@ Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref MESH:C56 Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref OMIM:119550 semapv:UnspecifiedMatching Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS:C0795898 semapv:UnspecifiedMatching Orphanet:2017 Sternal cleft oboInOwl:hasDbXref ICD10:Q76.7 semapv:UnspecifiedMatching +Orphanet:2017 Sternal cleft oboInOwl:hasDbXref ICD10:Q76.7 semapv:UnspecifiedMatching Orphanet:2017 Sternal cleft oboInOwl:hasDbXref MESH:C537489 semapv:UnspecifiedMatching Orphanet:2017 Sternal cleft oboInOwl:hasDbXref UMLS:C2931507 semapv:UnspecifiedMatching Orphanet:2017 Sternal cleft oboInOwl:hasDbXref icd11:LB73.13 semapv:UnspecifiedMatching Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MESH:C537918 semapv:UnspecifiedMatching Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MedDRA:10068448 semapv:UnspecifiedMatching Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref OMIM:228200 semapv:UnspecifiedMatching Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref UMLS:C1856790 semapv:UnspecifiedMatching Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching Orphanet:202 Crandall syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:202 Crandall syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:202 Crandall syndrome oboInOwl:hasDbXref UMLS:C0432348 semapv:UnspecifiedMatching Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:255310 semapv:UnspecifiedMatching Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:300580 semapv:UnspecifiedMatching Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:617760 semapv:UnspecifiedMatching Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref UMLS:C0546264 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref icd11:8C72.1 semapv:UnspecifiedMatching Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref MESH:C562524 semapv:UnspecifiedMatching @@ -7054,11 +8202,14 @@ Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref MESH:D004695 semapv: Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref MedDRA:10014663 semapv:UnspecifiedMatching Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 semapv:UnspecifiedMatching Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref UMLS:C0014117 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref icd11:BC43.3 semapv:UnspecifiedMatching +Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MESH:D051677 semapv:UnspecifiedMatching Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MedDRA:10025552 semapv:UnspecifiedMatching Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref UMLS:C0334463 semapv:UnspecifiedMatching Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref ICD10:K06.1 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref ICD10:K06.1 semapv:UnspecifiedMatching Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref MESH:C562884 semapv:UnspecifiedMatching Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref MedDRA:10088210 semapv:UnspecifiedMatching Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:135300 semapv:UnspecifiedMatching @@ -7067,27 +8218,33 @@ Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 se Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:611010 semapv:UnspecifiedMatching Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:617626 semapv:UnspecifiedMatching Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref UMLS:C0399440 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref icd11:DA0B.Y semapv:UnspecifiedMatching Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:228560 semapv:UnspecifiedMatching Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304501 semapv:UnspecifiedMatching Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:L68.8 semapv:UnspecifiedMatching +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:L68.8 semapv:UnspecifiedMatching Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:135400 semapv:UnspecifiedMatching Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C4274889 semapv:UnspecifiedMatching Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref MESH:C535886 semapv:UnspecifiedMatching Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref OMIM:135550 semapv:UnspecifiedMatching Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref UMLS:C1851112 semapv:UnspecifiedMatching +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching +Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching Orphanet:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching Orphanet:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin oboInOwl:hasDbXref UMLS:C5680789 semapv:UnspecifiedMatching Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5679782 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MESH:D005354 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MedDRA:10016632 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref OMIM:117600 semapv:UnspecifiedMatching @@ -7096,6 +8253,7 @@ Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboI Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213010 semapv:UnspecifiedMatching Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931226 semapv:UnspecifiedMatching Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MedDRA:10021240 semapv:UnspecifiedMatching Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching @@ -7103,18 +8261,25 @@ Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616371 semap Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616373 semapv:UnspecifiedMatching Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:619611 semapv:UnspecifiedMatching Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref icd11:CB03.4 semapv:UnspecifiedMatching Orphanet:2034 Filariasis oboInOwl:hasDbXref ICD10:B74 semapv:UnspecifiedMatching Orphanet:2034 Filariasis oboInOwl:hasDbXref ICD10:B74 semapv:UnspecifiedMatching Orphanet:2034 Filariasis oboInOwl:hasDbXref MESH:D005368 semapv:UnspecifiedMatching Orphanet:2034 Filariasis oboInOwl:hasDbXref MedDRA:10016674 semapv:UnspecifiedMatching Orphanet:2034 Filariasis oboInOwl:hasDbXref UMLS:C0016085 semapv:UnspecifiedMatching +Orphanet:2034 Filariasis oboInOwl:hasDbXref icd11:1F66 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.0 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.0 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.1 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.1 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.2 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.2 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref MedDRA:10016675 semapv:UnspecifiedMatching Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref UMLS:C0013884 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref icd11:1F66.3 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref icd11:1F66.30 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref icd11:1F66.31 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref icd11:1F66.32 semapv:UnspecifiedMatching Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref MESH:C536623 semapv:UnspecifiedMatching @@ -7122,6 +8287,7 @@ Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref OMIM:181270 semapv:Un Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS:C1867020 semapv:UnspecifiedMatching Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref ICD10:Q21.4 semapv:UnspecifiedMatching +Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref ICD10:Q21.4 semapv:UnspecifiedMatching Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref MESH:C537782 semapv:UnspecifiedMatching Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref UMLS:C5679821 semapv:UnspecifiedMatching Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref icd11:LA8B.0 semapv:UnspecifiedMatching @@ -7130,6 +8296,7 @@ Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q25. Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref MedDRA:10037332 semapv:UnspecifiedMatching Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref OMIM:265140 semapv:UnspecifiedMatching Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref UMLS:C0155675 semapv:UnspecifiedMatching +Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref icd11:LA90.5 semapv:UnspecifiedMatching Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref UMLS:C5191839 semapv:UnspecifiedMatching @@ -7142,11 +8309,14 @@ Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 s Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C1852467 semapv:UnspecifiedMatching Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E00 semapv:UnspecifiedMatching Orphanet:2040 Congenital respiratory-biliary fistula oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:2040 Congenital respiratory-biliary fistula oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching Orphanet:2040 Congenital respiratory-biliary fistula oboInOwl:hasDbXref UMLS:C5231000 semapv:UnspecifiedMatching Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref MedDRA:10069441 semapv:UnspecifiedMatching Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref UMLS:C0265898 semapv:UnspecifiedMatching +Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref icd11:BA83 semapv:UnspecifiedMatching +Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref icd11:LA8C.2 semapv:UnspecifiedMatching Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref MESH:C537062 semapv:UnspecifiedMatching @@ -7169,6 +8339,7 @@ Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref MESH:C537069 semapv Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref MedDRA:10083275 semapv:UnspecifiedMatching Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref UMLS:C2931412 semapv:UnspecifiedMatching Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MESH:D003414 semapv:UnspecifiedMatching Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MedDRA:10011386 semapv:UnspecifiedMatching Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching @@ -7176,10 +8347,12 @@ Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:606785 semapv:Unspe Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS:C5551003 semapv:UnspecifiedMatching Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref icd11:5C58.00 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref MESH:C535963 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:112240 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:616294 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref UMLS:C1862178 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref OMIM:229230 semapv:UnspecifiedMatching @@ -7202,15 +8375,18 @@ Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:277720 semapv:Uns Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref UMLS:C0265224 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1864825 semapv:UnspecifiedMatching Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref MESH:C538068 semapv:UnspecifiedMatching Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref MedDRA:10015487 semapv:UnspecifiedMatching Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref OMIM:229800 semapv:UnspecifiedMatching Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref UMLS:C0268160 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref icd11:5C51.5Y semapv:UnspecifiedMatching Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref OMIM:210745 semapv:UnspecifiedMatching @@ -7224,35 +8400,43 @@ Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref OMIM:229850 semapv:UnspecifiedMa Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref UMLS:C0220730 semapv:UnspecifiedMatching Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.0 semapv:UnspecifiedMatching +Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.0 semapv:UnspecifiedMatching +Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.1 semapv:UnspecifiedMatching Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.1 semapv:UnspecifiedMatching Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref UMLS:C4304839 semapv:UnspecifiedMatching +Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref MESH:C537318 semapv:UnspecifiedMatching Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref OMIM:183300 semapv:UnspecifiedMatching Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref UMLS:C1866745 semapv:UnspecifiedMatching Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref MESH:C536344 semapv:UnspecifiedMatching Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref OMIM:192800 semapv:UnspecifiedMatching Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref UMLS:C4510303 semapv:UnspecifiedMatching Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MedDRA:10075774 semapv:UnspecifiedMatching Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref UMLS:C0751273 semapv:UnspecifiedMatching Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref UMLS:C0268252 semapv:UnspecifiedMatching Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref UMLS:C5680793 semapv:UnspecifiedMatching Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching Orphanet:206470 Cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:206470 Cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:206470 Cystadenoma of childhood oboInOwl:hasDbXref UMLS:C5679785 semapv:UnspecifiedMatching Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching @@ -7262,9 +8446,11 @@ Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref UMLS:C0206661 semapv:Unspecifi Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref UMLS:C4749402 semapv:UnspecifiedMatching +Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref icd11:2C71.Y semapv:UnspecifiedMatching Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C4707823 semapv:UnspecifiedMatching +Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref icd11:2C71.Y semapv:UnspecifiedMatching Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref MESH:C537548 semapv:UnspecifiedMatching @@ -7279,25 +8465,36 @@ Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618349 semapv:Unsp Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:619603 semapv:UnspecifiedMatching Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:619609 semapv:UnspecifiedMatching Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS:C0795949 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref icd11:GB41 semapv:UnspecifiedMatching +Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref UMLS:C5679783 semapv:UnspecifiedMatching +Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref UMLS:C4707359 semapv:UnspecifiedMatching +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref icd11:8C70.0 semapv:UnspecifiedMatching +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref icd11:8C70.1 semapv:UnspecifiedMatching +Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref MESH:C566968 semapv:UnspecifiedMatching Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref OMIM:611307 semapv:UnspecifiedMatching Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref UMLS:C1969785 semapv:UnspecifiedMatching Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref MESH:C566912 semapv:UnspecifiedMatching Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref OMIM:611588 semapv:UnspecifiedMatching Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref UMLS:C1969040 semapv:UnspecifiedMatching Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref OMIM:613158 semapv:UnspecifiedMatching Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref UMLS:C3150418 semapv:UnspecifiedMatching Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref OMIM:613157 semapv:UnspecifiedMatching Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref UMLS:C3150417 semapv:UnspecifiedMatching Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching +Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref UMLS:C3267047 semapv:UnspecifiedMatching Orphanet:206572 Overlap myositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching Orphanet:206572 Overlap myositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching @@ -7313,21 +8510,26 @@ Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood on Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref UMLS:C1970211 semapv:UnspecifiedMatching Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref MESH:C564878 semapv:UnspecifiedMatching Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref MedDRA:10077946 semapv:UnspecifiedMatching Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref OMIM:263570 semapv:UnspecifiedMatching Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref UMLS:C1849722 semapv:UnspecifiedMatching Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:G63.1 semapv:UnspecifiedMatching Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:G63.1 semapv:UnspecifiedMatching Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref MESH:D000077162 semapv:UnspecifiedMatching Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref UMLS:C4553088 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref icd11:8C01.Y semapv:UnspecifiedMatching Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref MedDRA:10081726 semapv:UnspecifiedMatching Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0456517 semapv:UnspecifiedMatching Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref icd11:8C01.2 semapv:UnspecifiedMatching Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref ICD10:R74.8 semapv:UnspecifiedMatching +Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref ICD10:R74.8 semapv:UnspecifiedMatching Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref OMIM:123320 semapv:UnspecifiedMatching Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref UMLS:C4751434 semapv:UnspecifiedMatching Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching @@ -7335,13 +8537,16 @@ Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref MESH:C535407 semapv:UnspecifiedMatching Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref OMIM:613163 semapv:UnspecifiedMatching Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref UMLS:C0342708 semapv:UnspecifiedMatching +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref icd11:5C59.1 semapv:UnspecifiedMatching Orphanet:206613 Infectious disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C1278821 semapv:UnspecifiedMatching Orphanet:206634 Genetic skeletal muscle disease oboInOwl:hasDbXref UMLS:C5680800 semapv:UnspecifiedMatching Orphanet:206638 Acquired skeletal muscle disease oboInOwl:hasDbXref UMLS:C5680799 semapv:UnspecifiedMatching Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref MESH:D009223 semapv:UnspecifiedMatching Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref MedDRA:10068871 semapv:UnspecifiedMatching Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref UMLS:C0027126 semapv:UnspecifiedMatching +Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching Orphanet:206650 Autosomal dominant distal myopathy oboInOwl:hasDbXref UMLS:C5680803 semapv:UnspecifiedMatching Orphanet:206653 Autosomal recessive distal myopathy oboInOwl:hasDbXref UMLS:C5680801 semapv:UnspecifiedMatching Orphanet:206656 Non-dystrophic myopathy oboInOwl:hasDbXref UMLS:C5680802 semapv:UnspecifiedMatching @@ -7359,18 +8564,23 @@ Orphanet:206710 Generalized bulbospinal muscular atrophy oboInOwl:hasDbXref UMLS Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref MESH:C535651 semapv:UnspecifiedMatching Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref OMIM:137270 semapv:UnspecifiedMatching Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref UMLS:C1850899 semapv:UnspecifiedMatching +Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref icd11:EC23.1 semapv:UnspecifiedMatching Orphanet:206953 Muscular lipidosis oboInOwl:hasDbXref MESH:C562935 semapv:UnspecifiedMatching Orphanet:206953 Muscular lipidosis oboInOwl:hasDbXref UMLS:C0410214 semapv:UnspecifiedMatching Orphanet:206959 Muscular glycogenosis oboInOwl:hasDbXref UMLS:C5679786 semapv:UnspecifiedMatching Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref MESH:D017240 semapv:UnspecifiedMatching Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref MedDRA:10027710 semapv:UnspecifiedMatching Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref UMLS:C0162670 semapv:UnspecifiedMatching +Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref icd11:8C73 semapv:UnspecifiedMatching Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref MedDRA:10028658 semapv:UnspecifiedMatching Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref UMLS:C5680798 semapv:UnspecifiedMatching Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MESH:D009224 semapv:UnspecifiedMatching Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MedDRA:10028655 semapv:UnspecifiedMatching +Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching +Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref MESH:D010245 semapv:UnspecifiedMatching Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref MedDRA:10016208 semapv:UnspecifiedMatching @@ -7379,12 +8589,17 @@ Orphanet:206982 Muscular tumor oboInOwl:hasDbXref MESH:D019042 semapv:Unspecifie Orphanet:206982 Muscular tumor oboInOwl:hasDbXref MedDRA:10070956 semapv:UnspecifiedMatching Orphanet:206982 Muscular tumor oboInOwl:hasDbXref UMLS:C0282606 semapv:UnspecifiedMatching Orphanet:206988 Infectious, fungal or parasitic myopathy oboInOwl:hasDbXref UMLS:C5680819 semapv:UnspecifiedMatching +Orphanet:206988 Infectious, fungal or parasitic myopathy oboInOwl:hasDbXref icd11:FB30 semapv:UnspecifiedMatching +Orphanet:206991 Viral myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:206991 Viral myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:206991 Viral myositis oboInOwl:hasDbXref MedDRA:10051512 semapv:UnspecifiedMatching Orphanet:206991 Viral myositis oboInOwl:hasDbXref UMLS:C0150005 semapv:UnspecifiedMatching +Orphanet:206991 Viral myositis oboInOwl:hasDbXref icd11:FB30 semapv:UnspecifiedMatching +Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref MedDRA:10085526 semapv:UnspecifiedMatching Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref UMLS:C0263979 semapv:UnspecifiedMatching +Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref icd11:FB30 semapv:UnspecifiedMatching Orphanet:206997 Parasitic myositis oboInOwl:hasDbXref UMLS:C0263997 semapv:UnspecifiedMatching Orphanet:207 Crouzon syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching Orphanet:207 Crouzon syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching @@ -7395,15 +8610,19 @@ Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref ICD10:K52.8 semapv Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MESH:C535952 semapv:UnspecifiedMatching Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MedDRA:10017902 semapv:UnspecifiedMatching Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS:C1262481 semapv:UnspecifiedMatching +Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref icd11:DA94.21 semapv:UnspecifiedMatching +Orphanet:207000 Fungal myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:207000 Fungal myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:207000 Fungal myositis oboInOwl:hasDbXref MedDRA:10086251 semapv:UnspecifiedMatching Orphanet:207000 Fungal myositis oboInOwl:hasDbXref UMLS:C0410251 semapv:UnspecifiedMatching +Orphanet:207000 Fungal myositis oboInOwl:hasDbXref icd11:FB30 semapv:UnspecifiedMatching Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly oboInOwl:hasDbXref UMLS:C5680818 semapv:UnspecifiedMatching Orphanet:207015 Rare hereditary disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680817 semapv:UnspecifiedMatching Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680814 semapv:UnspecifiedMatching Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680813 semapv:UnspecifiedMatching Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680816 semapv:UnspecifiedMatching Orphanet:207028 Cerebellar ataxia with peripheral neuropathy oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:207028 Cerebellar ataxia with peripheral neuropathy oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching Orphanet:207028 Cerebellar ataxia with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680815 semapv:UnspecifiedMatching Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C5679791 semapv:UnspecifiedMatching Orphanet:207046 Malignant lymphoma with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680812 semapv:UnspecifiedMatching @@ -7430,8 +8649,10 @@ Orphanet:207113 Qualitative or quantitative defects of protein involved in O-gly Orphanet:207119 Qualitative or quantitative defects of FKRP oboInOwl:hasDbXref UMLS:C5680827 semapv:UnspecifiedMatching Orphanet:207122 Qualitative or quantitative defects of fukutin oboInOwl:hasDbXref UMLS:C5681836 semapv:UnspecifiedMatching Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref UMLS:C2931585 semapv:UnspecifiedMatching +Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:161400 semapv:UnspecifiedMatching @@ -7460,15 +8681,18 @@ Orphanet:2077 German syndrome oboInOwl:hasDbXref MESH:C562543 semapv:Unspecified Orphanet:2077 German syndrome oboInOwl:hasDbXref OMIM:231080 semapv:UnspecifiedMatching Orphanet:2077 German syndrome oboInOwl:hasDbXref UMLS:C3887495 semapv:UnspecifiedMatching Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref UMLS:C0432255 semapv:UnspecifiedMatching +Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref MESH:C537714 semapv:UnspecifiedMatching Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref OMIM:247990 semapv:UnspecifiedMatching Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref UMLS:C0796024 semapv:UnspecifiedMatching Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref MESH:C537679 semapv:UnspecifiedMatching Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref UMLS:C2931588 semapv:UnspecifiedMatching @@ -7488,26 +8712,34 @@ Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref icd11:LA Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref OMIM:137763 semapv:UnspecifiedMatching Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref UMLS:C4304308 semapv:UnspecifiedMatching Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref MESH:C537206 semapv:UnspecifiedMatching Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref OMIM:117360 semapv:UnspecifiedMatching Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref UMLS:C1861732 semapv:UnspecifiedMatching +Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching +Orphanet:208524 Herpetiform pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching Orphanet:208524 Herpetiform pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching Orphanet:208524 Herpetiform pemphigus oboInOwl:hasDbXref UMLS:C4749730 semapv:UnspecifiedMatching Orphanet:208593 Genetic hypoparathyroidism oboInOwl:hasDbXref UMLS:C5680825 semapv:UnspecifiedMatching Orphanet:208596 Genetic hyperparathyroidism oboInOwl:hasDbXref UMLS:C5680826 semapv:UnspecifiedMatching Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching +Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref MedDRA:10073338 semapv:UnspecifiedMatching Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref UMLS:C0796418 semapv:UnspecifiedMatching +Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref icd11:2A02.0Y semapv:UnspecifiedMatching Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref MESH:D056587 semapv:UnspecifiedMatching Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref MedDRA:10068850 semapv:UnspecifiedMatching Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref UMLS:C2316212 semapv:UnspecifiedMatching +Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref icd11:4A60.1 semapv:UnspecifiedMatching Orphanet:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref MESH:C536825 semapv:UnspecifiedMatching Orphanet:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref UMLS:C1841989 semapv:UnspecifiedMatching Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref OMIM:227810 semapv:UnspecifiedMatching Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref UMLS:C3495427 semapv:UnspecifiedMatching Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref OMIM:240600 semapv:UnspecifiedMatching Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C4510753 semapv:UnspecifiedMatching Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching @@ -7561,12 +8793,14 @@ Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 oboInOwl Orphanet:209196 Qualitative or quantitative defects of plectin oboInOwl:hasDbXref UMLS:C5680835 semapv:UnspecifiedMatching Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 oboInOwl:hasDbXref UMLS:C5680836 semapv:UnspecifiedMatching Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref UMLS:C0016395 semapv:UnspecifiedMatching Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - oboInOwl:hasDbXref UMLS:C5680837 semapv:UnspecifiedMatching Orphanet:209224 Myotilinopathy oboInOwl:hasDbXref MESH:C563775 semapv:UnspecifiedMatching +Orphanet:209224 Myotilinopathy oboInOwl:hasDbXref icd11:8C76 semapv:UnspecifiedMatching Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref MESH:C566673 semapv:UnspecifiedMatching @@ -7578,46 +8812,58 @@ Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spin Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref MESH:C563560 semapv:UnspecifiedMatching Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref UMLS:C4749821 semapv:UnspecifiedMatching +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref OMIM:612289 semapv:UnspecifiedMatching Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2097 Grant syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2097 Grant syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2097 Grant syndrome oboInOwl:hasDbXref MESH:C537293 semapv:UnspecifiedMatching Orphanet:2097 Grant syndrome oboInOwl:hasDbXref OMIM:138930 semapv:UnspecifiedMatching Orphanet:2097 Grant syndrome oboInOwl:hasDbXref UMLS:C1841835 semapv:UnspecifiedMatching +Orphanet:2097 Grant syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref MESH:C537915 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:200700 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref UMLS:C0265260 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref MESH:C563710 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref UMLS:C1836081 semapv:UnspecifiedMatching +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref icd11:9B73.0 semapv:UnspecifiedMatching +Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C4751204 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref MESH:C567034 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref OMIM:610978 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref UMLS:C1970269 semapv:UnspecifiedMatching +Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref icd11:CB04.5 semapv:UnspecifiedMatching Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref UMLS:C0750927 semapv:UnspecifiedMatching Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MESH:C563195 semapv:UnspecifiedMatching Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MedDRA:10073134 semapv:UnspecifiedMatching Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 semapv:UnspecifiedMatching Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1275278 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref icd11:2B50.Y semapv:UnspecifiedMatching Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref OMIM:215600 semapv:UnspecifiedMatching Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref UMLS:C4274853 semapv:UnspecifiedMatching +Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref icd11:DB93.21 semapv:UnspecifiedMatching Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref OMIM:610356 semapv:UnspecifiedMatching @@ -7649,22 +8895,31 @@ Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref ICD10:G11.8 semapv:Uns Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref MESH:C567207 semapv:UnspecifiedMatching Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref OMIM:612656 semapv:UnspecifiedMatching Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref UMLS:C2675211 semapv:UnspecifiedMatching +Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref MESH:C567459 semapv:UnspecifiedMatching Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref OMIM:611907 semapv:UnspecifiedMatching Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref UMLS:C2677843 semapv:UnspecifiedMatching +Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G81.9 semapv:UnspecifiedMatching Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G81.9 semapv:UnspecifiedMatching Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref UMLS:C4749822 semapv:UnspecifiedMatching +Orphanet:209978 Alternating hemiplegia oboInOwl:hasDbXref icd11:MB53.0 semapv:UnspecifiedMatching +Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref MESH:C562385 semapv:UnspecifiedMatching Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref UMLS:C0085576 semapv:UnspecifiedMatching +Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref icd11:3A00.Y semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching @@ -7682,43 +8937,57 @@ Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOw Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref UMLS:C4274225 semapv:UnspecifiedMatching +Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref icd11:1A3Y semapv:UnspecifiedMatching Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref MESH:C537621 semapv:UnspecifiedMatching Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref OMIM:233810 semapv:UnspecifiedMatching Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref UMLS:C2931551 semapv:UnspecifiedMatching Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref OMIM:611497 semapv:UnspecifiedMatching Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref UMLS:C5679797 semapv:UnspecifiedMatching +Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref MESH:C557815 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref OMIM:612852 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref UMLS:C2748507 semapv:UnspecifiedMatching +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref icd11:4A00.Y semapv:UnspecifiedMatching +Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref MESH:C536590 semapv:UnspecifiedMatching Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref OMIM:265380 semapv:UnspecifiedMatching Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref UMLS:C2677362 semapv:UnspecifiedMatching +Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref icd11:CB04.0 semapv:UnspecifiedMatching +Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref MESH:C536479 semapv:UnspecifiedMatching Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref OMIM:276880 semapv:UnspecifiedMatching Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref UMLS:C0268514 semapv:UnspecifiedMatching +Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref icd11:5C50.21 semapv:UnspecifiedMatching +Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref UMLS:C4751169 semapv:UnspecifiedMatching Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref UMLS:C4510085 semapv:UnspecifiedMatching +Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref icd11:DB99.Y semapv:UnspecifiedMatching +Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:612900 semapv:UnspecifiedMatching Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:617008 semapv:UnspecifiedMatching Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref UMLS:C5190693 semapv:UnspecifiedMatching +Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref icd11:MB50.1 semapv:UnspecifiedMatching Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref OMIM:612938 semapv:UnspecifiedMatching Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref UMLS:C4755275 semapv:UnspecifiedMatching Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0279607 semapv:UnspecifiedMatching Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref OMIM:612540 semapv:UnspecifiedMatching Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref UMLS:C4750773 semapv:UnspecifiedMatching Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching @@ -7732,6 +9001,8 @@ Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref ICD10:H81.8 semapv:Unspe Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref MESH:C537840 semapv:UnspecifiedMatching Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref MedDRA:10064924 semapv:UnspecifiedMatching Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref UMLS:C1608983 semapv:UnspecifiedMatching +Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref icd11:AB31.4 semapv:UnspecifiedMatching +Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MESH:D020275 semapv:UnspecifiedMatching Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MedDRA:10018767 semapv:UnspecifiedMatching @@ -7755,6 +9026,7 @@ Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMat Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref MESH:C567430 semapv:UnspecifiedMatching Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref OMIM:612067 semapv:UnspecifiedMatching Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref UMLS:C2677567 semapv:UnspecifiedMatching +Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref icd11:8A02.12 semapv:UnspecifiedMatching Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref UMLS:C4706319 semapv:UnspecifiedMatching @@ -7763,6 +9035,7 @@ Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:Un Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref UMLS:C1304508 semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref icd11:2F2Y semapv:UnspecifiedMatching +Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref icd11:XH6RP8 semapv:UnspecifiedMatching Orphanet:210589 Infantile hemangioma of rare localization oboInOwl:hasDbXref UMLS:C3839613 semapv:UnspecifiedMatching Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -7773,6 +9046,7 @@ Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv: Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref MESH:D006210 semapv:UnspecifiedMatching Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS:C0018522 semapv:UnspecifiedMatching +Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref MESH:C538210 semapv:UnspecifiedMatching @@ -7784,6 +9058,7 @@ Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.5 semapv:Unsp Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref MESH:C536611 semapv:UnspecifiedMatching Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref OMIM:132700 semapv:UnspecifiedMatching Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref UMLS:C1851526 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref icd11:2F22 semapv:UnspecifiedMatching Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref MESH:C536885 semapv:UnspecifiedMatching @@ -7794,16 +9069,20 @@ Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref ICD10:G11.2 se Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref MESH:C575214 semapv:UnspecifiedMatching Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref OMIM:613371 semapv:UnspecifiedMatching Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref UMLS:C2936793 semapv:UnspecifiedMatching +Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C5680856 semapv:UnspecifiedMatching Orphanet:211047 Specific learning disability oboInOwl:hasDbXref UMLS:C4025790 semapv:UnspecifiedMatching Orphanet:211053 Specific language disorder oboInOwl:hasDbXref MESH:D000080888 semapv:UnspecifiedMatching Orphanet:211053 Specific language disorder oboInOwl:hasDbXref UMLS:C0454651 semapv:UnspecifiedMatching Orphanet:211062 Hereditary episodic ataxia oboInOwl:hasDbXref MESH:C580065 semapv:UnspecifiedMatching +Orphanet:211062 Hereditary episodic ataxia oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref MESH:C566601 semapv:UnspecifiedMatching Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref OMIM:613855 semapv:UnspecifiedMatching Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref UMLS:C1866039 semapv:UnspecifiedMatching +Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching +Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref MESH:C537292 semapv:UnspecifiedMatching Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref UMLS:C2931468 semapv:UnspecifiedMatching @@ -7825,6 +9104,7 @@ Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 semapv:U Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref UMLS:C1840572 semapv:UnspecifiedMatching +Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref icd11:LD24.6Y semapv:UnspecifiedMatching Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref MESH:C535635 semapv:UnspecifiedMatching @@ -7836,6 +9116,7 @@ Orphanet:2116 Hartnup disease oboInOwl:hasDbXref MESH:D006250 semapv:Unspecified Orphanet:2116 Hartnup disease oboInOwl:hasDbXref MedDRA:10019165 semapv:UnspecifiedMatching Orphanet:2116 Hartnup disease oboInOwl:hasDbXref OMIM:234500 semapv:UnspecifiedMatching Orphanet:2116 Hartnup disease oboInOwl:hasDbXref UMLS:C0018609 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref MESH:C564484 semapv:UnspecifiedMatching @@ -7853,15 +9134,19 @@ Orphanet:2119 HEC syndrome oboInOwl:hasDbXref MESH:C535855 semapv:UnspecifiedMat Orphanet:2119 HEC syndrome oboInOwl:hasDbXref OMIM:600559 semapv:UnspecifiedMatching Orphanet:2119 HEC syndrome oboInOwl:hasDbXref UMLS:C1833607 semapv:UnspecifiedMatching Orphanet:212 Cystathioninuria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:212 Cystathioninuria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:212 Cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:UnspecifiedMatching Orphanet:212 Cystathioninuria oboInOwl:hasDbXref OMIM:219500 semapv:UnspecifiedMatching Orphanet:212 Cystathioninuria oboInOwl:hasDbXref UMLS:C0220993 semapv:UnspecifiedMatching Orphanet:212 Cystathioninuria oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref MESH:C537007 semapv:UnspecifiedMatching Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1367420 semapv:UnspecifiedMatching +Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref icd11:2F72.Y semapv:UnspecifiedMatching Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref icd11:XH6PA4 semapv:UnspecifiedMatching Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref UMLS:C0474965 semapv:UnspecifiedMatching Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching @@ -7874,10 +9159,12 @@ Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref MedDRA:10018825 semapv:U Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref OMIM:234820 semapv:UnspecifiedMatching Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref UMLS:C5679827 semapv:UnspecifiedMatching Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref MESH:C565524 semapv:UnspecifiedMatching Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref MedDRA:10019463 semapv:UnspecifiedMatching Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref OMIM:235000 semapv:UnspecifiedMatching Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref UMLS:C1856184 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:213 Cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:213 Cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:213 Cystinosis oboInOwl:hasDbXref MESH:D003554 semapv:UnspecifiedMatching @@ -7889,11 +9176,13 @@ Orphanet:213 Cystinosis oboInOwl:hasDbXref icd11:5C60.1 semapv:UnspecifiedMatchi Orphanet:2130 Hemimelia oboInOwl:hasDbXref MedDRA:10019464 semapv:UnspecifiedMatching Orphanet:2130 Hemimelia oboInOwl:hasDbXref UMLS:C0018987 semapv:UnspecifiedMatching Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MESH:C536589 semapv:UnspecifiedMatching Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MedDRA:10077948 semapv:UnspecifiedMatching Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 semapv:UnspecifiedMatching Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 semapv:UnspecifiedMatching Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref UMLS:C0338488 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref icd11:MB53.0 semapv:UnspecifiedMatching Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 semapv:UnspecifiedMatching @@ -7918,6 +9207,7 @@ Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612925 Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612926 semapv:UnspecifiedMatching Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C2931788 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref OMIM:248910 semapv:UnspecifiedMatching @@ -7927,12 +9217,16 @@ Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref MedDRA:10033128 semapv:Unspeci Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref UMLS:C1140680 semapv:UnspecifiedMatching Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref icd11:2C73 semapv:UnspecifiedMatching Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref MedDRA:10051938 semapv:UnspecifiedMatching Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C0948216 semapv:UnspecifiedMatching Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref UMLS:C0392998 semapv:UnspecifiedMatching Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C4749652 semapv:UnspecifiedMatching +Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching @@ -7940,9 +9234,14 @@ Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref UMLS:C5680864 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching @@ -7952,12 +9251,18 @@ Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50 Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref MedDRA:10073100 semapv:UnspecifiedMatching Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref UMLS:C1334708 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref icd11:2C6Y semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching @@ -7965,15 +9270,21 @@ Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD1 Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref UMLS:C4274421 semapv:UnspecifiedMatching Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref icd11:2C60 semapv:UnspecifiedMatching Orphanet:213564 Rare uterine cancer oboInOwl:hasDbXref UMLS:C5679800 semapv:UnspecifiedMatching Orphanet:213569 Rare cancer of corpus uteri oboInOwl:hasDbXref UMLS:C5679801 semapv:UnspecifiedMatching Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri oboInOwl:hasDbXref UMLS:C5679803 semapv:UnspecifiedMatching +Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri oboInOwl:hasDbXref icd11:2B5D.1 semapv:UnspecifiedMatching Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref MESH:C537255 semapv:UnspecifiedMatching @@ -7983,40 +9294,57 @@ Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:618154 semapv:Unspecifie Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref UMLS:C0340834 semapv:UnspecifiedMatching Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4707554 semapv:UnspecifiedMatching +Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref icd11:2B5D.1 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref UMLS:C4755313 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref icd11:2B5D.1 semapv:UnspecifiedMatching Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C1704376 semapv:UnspecifiedMatching Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.43 semapv:UnspecifiedMatching Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4706451 semapv:UnspecifiedMatching Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref MedDRA:10039497 semapv:UnspecifiedMatching Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0338113 semapv:UnspecifiedMatching Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref MedDRA:10046799 semapv:UnspecifiedMatching Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0280631 semapv:UnspecifiedMatching +Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref icd11:2B58.1 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref UMLS:C4707724 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref icd11:2B5F.0 semapv:UnspecifiedMatching Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref MedDRA:10003827 semapv:UnspecifiedMatching Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref UMLS:C4721555 semapv:UnspecifiedMatching Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 semapv:UnspecifiedMatching Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MedDRA:10057649 semapv:UnspecifiedMatching Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C0206630 semapv:UnspecifiedMatching @@ -8025,31 +9353,45 @@ Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:XH1S94 sema Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:XH1TK5 semapv:UnspecifiedMatching Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:XH2CV3 semapv:UnspecifiedMatching Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4707099 semapv:UnspecifiedMatching Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4707822 semapv:UnspecifiedMatching Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching Orphanet:213726 Serous carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213726 Serous carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching Orphanet:213726 Serous carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C5679804 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4751234 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref UMLS:C5190779 semapv:UnspecifiedMatching @@ -8058,37 +9400,52 @@ Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXr Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C5191668 semapv:UnspecifiedMatching Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref UMLS:C4750753 semapv:UnspecifiedMatching Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching Orphanet:213761 Rare cancer of cervix uteri oboInOwl:hasDbXref UMLS:C5679805 semapv:UnspecifiedMatching Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref MedDRA:10041848 semapv:UnspecifiedMatching Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279671 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.0 semapv:UnspecifiedMatching Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref MedDRA:10001197 semapv:UnspecifiedMatching Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279672 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.1 semapv:UnspecifiedMatching Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4751235 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.3 semapv:UnspecifiedMatching Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri oboInOwl:hasDbXref UMLS:C5679806 semapv:UnspecifiedMatching Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53 semapv:UnspecifiedMatching Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53 semapv:UnspecifiedMatching Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1332917 semapv:UnspecifiedMatching Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching @@ -8096,42 +9453,62 @@ Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C151642 Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching Orphanet:213797 Sarcoma of cervix uteri oboInOwl:hasDbXref UMLS:C5679807 semapv:UnspecifiedMatching Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching +Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref MESH:D050090 semapv:UnspecifiedMatching Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref UMLS:C5679613 semapv:UnspecifiedMatching +Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref icd11:LD2A.0 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4289809 semapv:UnspecifiedMatching Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4289817 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2B58.1 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref UMLS:C4707725 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref icd11:2B52.3 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1332911 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.1 semapv:UnspecifiedMatching Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1516403 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.1 semapv:UnspecifiedMatching Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4707881 semapv:UnspecifiedMatching Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching @@ -8149,6 +9526,7 @@ Orphanet:214 Cystinuria oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatchin Orphanet:214 Cystinuria oboInOwl:hasDbXref UMLS:C0010691 semapv:UnspecifiedMatching Orphanet:214 Cystinuria oboInOwl:hasDbXref icd11:5C60.2 semapv:UnspecifiedMatching Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10:Q79.0 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10:Q79.0 semapv:UnspecifiedMatching Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MESH:D065630 semapv:UnspecifiedMatching Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MedDRA:10010439 semapv:UnspecifiedMatching Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv:UnspecifiedMatching @@ -8156,6 +9534,7 @@ Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 sem Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:306950 semapv:UnspecifiedMatching Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS:C0235833 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref icd11:LB00.0 semapv:UnspecifiedMatching Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref OMIM:601163 semapv:UnspecifiedMatching @@ -8169,10 +9548,12 @@ Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:Uns Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref UMLS:C4706536 semapv:UnspecifiedMatching +Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref OMIM:300067 semapv:UnspecifiedMatching Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref UMLS:C4275012 semapv:UnspecifiedMatching +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching @@ -8182,6 +9563,7 @@ Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:612881 semapv Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:617201 semapv:UnspecifiedMatching Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref UMLS:C5680679 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref icd11:LA05.5Y semapv:UnspecifiedMatching Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref MESH:C536122 semapv:UnspecifiedMatching @@ -8201,37 +9583,49 @@ Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:61702 Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref UMLS:C0339535 semapv:UnspecifiedMatching Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref icd11:9D45 semapv:UnspecifiedMatching Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref MESH:C538319 semapv:UnspecifiedMatching Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref OMIM:306980 semapv:UnspecifiedMatching Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref UMLS:C4303481 semapv:UnspecifiedMatching Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref MESH:C538119 semapv:UnspecifiedMatching Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref UMLS:C5191058 semapv:UnspecifiedMatching Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS:C1856113 semapv:UnspecifiedMatching Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref MESH:C535615 semapv:UnspecifiedMatching Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:235760 semapv:UnspecifiedMatching Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1856110 semapv:UnspecifiedMatching Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref MESH:C537235 semapv:UnspecifiedMatching Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref OMIM:235740 semapv:UnspecifiedMatching Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref UMLS:C2931452 semapv:UnspecifiedMatching +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:2157 Histidinemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:2157 Histidinemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:2157 Histidinemia oboInOwl:hasDbXref MESH:C538320 semapv:UnspecifiedMatching Orphanet:2157 Histidinemia oboInOwl:hasDbXref OMIM:235800 semapv:UnspecifiedMatching Orphanet:2157 Histidinemia oboInOwl:hasDbXref UMLS:C0220992 semapv:UnspecifiedMatching +Orphanet:2157 Histidinemia oboInOwl:hasDbXref icd11:5C50.20 semapv:UnspecifiedMatching +Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref MESH:C538321 semapv:UnspecifiedMatching Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref OMIM:235830 semapv:UnspecifiedMatching Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref UMLS:C0268642 semapv:UnspecifiedMatching Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:D009472 semapv:UnspecifiedMatching Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10074607 semapv:UnspecifiedMatching Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 semapv:UnspecifiedMatching +Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref MedDRA:10056304 semapv:UnspecifiedMatching @@ -8251,13 +9645,17 @@ Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:619895 semapv:Unspecifie Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref UMLS:C0079541 semapv:UnspecifiedMatching Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref MESH:C537684 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref OMIM:601370 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1832424 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD20.3 semapv:UnspecifiedMatching Orphanet:216445 Prelingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:216445 Prelingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:216452 Postlingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:216452 Postlingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C4749731 semapv:UnspecifiedMatching Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -8267,6 +9665,8 @@ Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXre Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref MESH:D014188 semapv:UnspecifiedMatching Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref MedDRA:10044443 semapv:UnspecifiedMatching Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref UMLS:C0040761 semapv:UnspecifiedMatching +Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref icd11:LA85.1 semapv:UnspecifiedMatching +Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.5 semapv:UnspecifiedMatching Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.5 semapv:UnspecifiedMatching Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MESH:D000080041 semapv:UnspecifiedMatching Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MedDRA:10011120 semapv:UnspecifiedMatching @@ -8278,10 +9678,13 @@ Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref MESH:C535327 semapv:Unspecif Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref OMIM:236110 semapv:UnspecifiedMatching Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref UMLS:C1856095 semapv:UnspecifiedMatching Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref UMLS:C5679810 semapv:UnspecifiedMatching Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation oboInOwl:hasDbXref UMLS:C5679811 semapv:UnspecifiedMatching Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching @@ -8289,6 +9692,7 @@ Orphanet:2168 Homocarnosinosis oboInOwl:hasDbXref MESH:C535328 semapv:Unspecifie Orphanet:2168 Homocarnosinosis oboInOwl:hasDbXref OMIM:236130 semapv:UnspecifiedMatching Orphanet:2168 Homocarnosinosis oboInOwl:hasDbXref UMLS:C3495554 semapv:UnspecifiedMatching Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching @@ -8296,6 +9700,7 @@ Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:610915 se Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref UMLS:C0268358 semapv:UnspecifiedMatching Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C536044 semapv:UnspecifiedMatching Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching @@ -8310,6 +9715,7 @@ Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:616229 se Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0268362 semapv:UnspecifiedMatching Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref MESH:C000631847 semapv:UnspecifiedMatching Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching @@ -8323,6 +9729,7 @@ Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:616507 se Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref UMLS:C0268363 semapv:UnspecifiedMatching Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref MESH:C567042 semapv:UnspecifiedMatching Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref UMLS:C2931093 semapv:UnspecifiedMatching @@ -8337,27 +9744,41 @@ Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInO Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref MESH:C565510 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref UMLS:C1856057 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref UMLS:C5680866 semapv:UnspecifiedMatching +Orphanet:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref UMLS:C5680868 semapv:UnspecifiedMatching +Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref UMLS:C5680867 semapv:UnspecifiedMatching +Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref UMLS:C5679813 semapv:UnspecifiedMatching +Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref UMLS:C5680869 semapv:UnspecifiedMatching +Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref UMLS:C0432322 semapv:UnspecifiedMatching Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref OMIM:220200 semapv:UnspecifiedMatching Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref UMLS:C5680466 semapv:UnspecifiedMatching Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref icd11:LA06.0 semapv:UnspecifiedMatching Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref MESH:C565394 semapv:UnspecifiedMatching Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref UMLS:C1855128 semapv:UnspecifiedMatching @@ -8365,11 +9786,13 @@ Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref icd11:5C50 Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref ICD10:Q27.4 semapv:UnspecifiedMatching Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref ICD10:Q27.4 semapv:UnspecifiedMatching Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref UMLS:C5679814 semapv:UnspecifiedMatching +Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref icd11:LC51 semapv:UnspecifiedMatching Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref MESH:C566146 semapv:UnspecifiedMatching Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref OMIM:117210 semapv:UnspecifiedMatching Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref UMLS:C1861736 semapv:UnspecifiedMatching +Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref MESH:C567865 semapv:UnspecifiedMatching @@ -8386,12 +9809,16 @@ Orphanet:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency oboInOwl:hasD Orphanet:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C4750774 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref OMIM:119900 semapv:UnspecifiedMatching Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref UMLS:C0345408 semapv:UnspecifiedMatching +Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref icd11:LB90.5 semapv:UnspecifiedMatching +Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref ICD10:T45.1 semapv:UnspecifiedMatching Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref ICD10:T45.1 semapv:UnspecifiedMatching Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref UMLS:C0274576 semapv:UnspecifiedMatching Orphanet:217067 Pouchitis oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching @@ -8402,15 +9829,18 @@ Orphanet:217067 Pouchitis oboInOwl:hasDbXref UMLS:C0376620 semapv:UnspecifiedMat Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref MedDRA:10067946 semapv:UnspecifiedMatching Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref UMLS:C0007134 semapv:UnspecifiedMatching +Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref icd11:2C90.0 semapv:UnspecifiedMatching Orphanet:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref MESH:D010190 semapv:UnspecifiedMatching Orphanet:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref UMLS:C5680420 semapv:UnspecifiedMatching Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref UMLS:C5680870 semapv:UnspecifiedMatching Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching +Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref icd11:5C56.31 semapv:UnspecifiedMatching Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref UMLS:C5679815 semapv:UnspecifiedMatching Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref icd11:5C56.31 semapv:UnspecifiedMatching @@ -8428,6 +9858,7 @@ Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref IC Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MedDRA:10036807 semapv:UnspecifiedMatching Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS:C0023524 semapv:UnspecifiedMatching +Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref icd11:8A45.02 semapv:UnspecifiedMatching Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref MESH:C567672 semapv:UnspecifiedMatching @@ -8435,19 +9866,24 @@ Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref OMIM:608980 semapv:UnspecifiedM Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref UMLS:C2750433 semapv:UnspecifiedMatching Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1854061 semapv:UnspecifiedMatching Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:613092 semapv:UnspecifiedMatching Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C4303080 semapv:UnspecifiedMatching Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref MESH:C567770 semapv:UnspecifiedMatching Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref OMIM:613075 semapv:UnspecifiedMatching Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref UMLS:C2751321 semapv:UnspecifiedMatching +Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref OMIM:613533 semapv:UnspecifiedMatching Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref UMLS:C4274345 semapv:UnspecifiedMatching +Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref OMIM:613026 semapv:UnspecifiedMatching @@ -8457,10 +9893,12 @@ Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-e Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref OMIM:613070 semapv:UnspecifiedMatching Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref UMLS:C5679818 semapv:UnspecifiedMatching +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref OMIM:300801 semapv:UnspecifiedMatching Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref UMLS:C4303068 semapv:UnspecifiedMatching +Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref MESH:C567791 semapv:UnspecifiedMatching @@ -8471,10 +9909,12 @@ Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref OMIM:613215 semapv:UnspecifiedMatching Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304641 semapv:UnspecifiedMatching +Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.G1 semapv:UnspecifiedMatching Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref OMIM:243700 semapv:UnspecifiedMatching Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref UMLS:C5679816 semapv:UnspecifiedMatching +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref OMIM:613710 semapv:UnspecifiedMatching @@ -8503,9 +9943,11 @@ Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref Me Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref UMLS:C3161105 semapv:UnspecifiedMatching Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref icd11:CB04.7 semapv:UnspecifiedMatching Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref ICD10:P28.0 semapv:UnspecifiedMatching +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref ICD10:P28.0 semapv:UnspecifiedMatching Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref MESH:C566882 semapv:UnspecifiedMatching Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref OMIM:265120 semapv:UnspecifiedMatching Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref UMLS:C1968602 semapv:UnspecifiedMatching +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref icd11:CB04.2 semapv:UnspecifiedMatching Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching @@ -8521,10 +9963,13 @@ Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semap Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:236490 semapv:UnspecifiedMatching +Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching +Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MESH:D002311 semapv:UnspecifiedMatching Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MedDRA:10056370 semapv:UnspecifiedMatching Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0007193 semapv:UnspecifiedMatching +Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref icd11:BC43.0 semapv:UnspecifiedMatching Orphanet:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref MESH:C536231 semapv:UnspecifiedMatching Orphanet:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0340427 semapv:UnspecifiedMatching Orphanet:217610 Neuromuscular disease with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680878 semapv:UnspecifiedMatching @@ -8532,6 +9977,7 @@ Orphanet:217613 Mitochondrial disease with dilated cardiomyopathy oboInOwl:hasDb Orphanet:217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680875 semapv:UnspecifiedMatching Orphanet:217619 Syndrome associated with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680876 semapv:UnspecifiedMatching Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605362 semapv:UnspecifiedMatching Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5679819 semapv:UnspecifiedMatching Orphanet:217629 Non-familial dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5681849 semapv:UnspecifiedMatching @@ -8539,6 +9985,7 @@ Orphanet:217629 Non-familial dilated cardiomyopathy oboInOwl:hasDbXref icd11:BC4 Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MedDRA:10038748 semapv:UnspecifiedMatching Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0007196 semapv:UnspecifiedMatching +Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref icd11:BC43.2 semapv:UnspecifiedMatching Orphanet:217635 Familial restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0340429 semapv:UnspecifiedMatching Orphanet:217638 Lysosomal disease with restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C5680886 semapv:UnspecifiedMatching Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching @@ -8556,6 +10003,7 @@ Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbX Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:611528 semapv:UnspecifiedMatching Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref UMLS:C4274968 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching Orphanet:217678 Unclassified cardiomyopathy oboInOwl:hasDbXref UMLS:C4682345 semapv:UnspecifiedMatching Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -8567,6 +10015,7 @@ Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref icd11:LA05.62 semapv:Unspecifie Orphanet:217720 Non-familial restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C5680885 semapv:UnspecifiedMatching Orphanet:217720 Non-familial restrictive cardiomyopathy oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching Orphanet:218 Darier disease oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:218 Darier disease oboInOwl:hasDbXref MESH:D007644 semapv:UnspecifiedMatching Orphanet:218 Darier disease oboInOwl:hasDbXref MedDRA:10023369 semapv:UnspecifiedMatching Orphanet:218 Darier disease oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching @@ -8583,6 +10032,7 @@ Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref OMIM:236660 semapv:UnspecifiedMatching Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref UMLS:C1856051 semapv:UnspecifiedMatching Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref MESH:C536078 semapv:UnspecifiedMatching Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref UMLS:C0265216 semapv:UnspecifiedMatching @@ -8593,6 +10043,8 @@ Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref U Orphanet:218436 Rare cardiac rhythm disease oboInOwl:hasDbXref UMLS:C5680887 semapv:UnspecifiedMatching Orphanet:218439 Non-genetic cardiac rhythm disease oboInOwl:hasDbXref UMLS:C5680888 semapv:UnspecifiedMatching Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching @@ -8602,6 +10054,7 @@ Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref MedDRA:10010506 semapv Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref UMLS:C0020256 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref icd11:LA04 semapv:UnspecifiedMatching Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref UMLS:C4750751 semapv:UnspecifiedMatching @@ -8613,29 +10066,37 @@ Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref OMIM:614120 semapv:UnspecifiedMat Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref UMLS:C2931104 semapv:UnspecifiedMatching Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref MESH:C535896 semapv:UnspecifiedMatching Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref OMIM:601287 semapv:UnspecifiedMatching Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref UMLS:C1832525 semapv:UnspecifiedMatching +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 semapv:UnspecifiedMatching Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 semapv:UnspecifiedMatching Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS:C1857253 semapv:UnspecifiedMatching +Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref MESH:C565423 semapv:UnspecifiedMatching Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref OMIM:248190 semapv:UnspecifiedMatching Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref UMLS:C1855466 semapv:UnspecifiedMatching Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:143870 semapv:UnspecifiedMatching Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:607258 semapv:UnspecifiedMatching Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref UMLS:C0543800 semapv:UnspecifiedMatching +Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref icd11:MF98.0 semapv:UnspecifiedMatching +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref MESH:C536164 semapv:UnspecifiedMatching Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 semapv:UnspecifiedMatching Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS:C1835664 semapv:UnspecifiedMatching Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:D053546 semapv:UnspecifiedMatching Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1721006 semapv:UnspecifiedMatching @@ -8647,19 +10108,24 @@ Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OM Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268631 semapv:UnspecifiedMatching Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 semapv:UnspecifiedMatching Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref MedDRA:10070179 semapv:UnspecifiedMatching Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 semapv:UnspecifiedMatching Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref UMLS:C0950121 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching +Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref MESH:C536157 semapv:UnspecifiedMatching Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref OMIM:148730 semapv:UnspecifiedMatching Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref UMLS:C1835650 semapv:UnspecifiedMatching Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref MESH:C538358 semapv:UnspecifiedMatching Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref OMIM:148360 semapv:UnspecifiedMatching Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref UMLS:C2931828 semapv:UnspecifiedMatching Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH:C536152 semapv:UnspecifiedMatching Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 semapv:UnspecifiedMatching @@ -8669,6 +10135,8 @@ Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXr Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:610651 semapv:UnspecifiedMatching Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref UMLS:C4304411 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref MESH:D020167 semapv:UnspecifiedMatching Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref MedDRA:10081311 semapv:UnspecifiedMatching @@ -8677,6 +10145,7 @@ Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238710 semapv:UnspecifiedMa Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref UMLS:C0268553 semapv:UnspecifiedMatching Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:301043 semapv:UnspecifiedMatching Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching @@ -8687,6 +10156,7 @@ Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M3 Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref icd11:4A42.1 semapv:UnspecifiedMatching Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching @@ -8701,6 +10171,7 @@ Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:U Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 semapv:UnspecifiedMatching Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref UMLS:C1866423 semapv:UnspecifiedMatching +Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref icd11:3B62.00 semapv:UnspecifiedMatching Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref OMIM:614009 semapv:UnspecifiedMatching @@ -8709,7 +10180,9 @@ Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboIn Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref UMLS:C4749648 semapv:UnspecifiedMatching +Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref icd11:3B62.01 semapv:UnspecifiedMatching Orphanet:220452 Isolated hereditary giant platelet disorder oboInOwl:hasDbXref UMLS:C5679822 semapv:UnspecifiedMatching +Orphanet:220452 Isolated hereditary giant platelet disorder oboInOwl:hasDbXref icd11:3B62.01 semapv:UnspecifiedMatching Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref MESH:C538265 semapv:UnspecifiedMatching @@ -8719,12 +10192,15 @@ Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMI Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:615083 semapv:UnspecifiedMatching Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C2674616 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:245590 semapv:UnspecifiedMatching Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:618985 semapv:UnspecifiedMatching Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref UMLS:C4510411 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -8739,19 +10215,23 @@ Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref icd11:LD2 Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref UMLS:C4274117 semapv:UnspecifiedMatching Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref ICD10:M48.1 semapv:UnspecifiedMatching +Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref ICD10:M48.1 semapv:UnspecifiedMatching Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref UMLS:C0020498 semapv:UnspecifiedMatching +Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref MESH:D017042 semapv:UnspecifiedMatching Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref UMLS:C0085547 semapv:UnspecifiedMatching +Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref icd11:5C50.02 semapv:UnspecifiedMatching Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching @@ -8759,19 +10239,27 @@ Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMa Orphanet:221 Dermatomyositis oboInOwl:hasDbXref MESH:D003882 semapv:UnspecifiedMatching Orphanet:221 Dermatomyositis oboInOwl:hasDbXref MedDRA:10012503 semapv:UnspecifiedMatching Orphanet:221 Dermatomyositis oboInOwl:hasDbXref UMLS:C0011633 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref icd11:4A41.00 semapv:UnspecifiedMatching +Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:618625 semapv:UnspecifiedMatching +Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching +Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref OMIM:173700 semapv:UnspecifiedMatching Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref UMLS:C5680890 semapv:UnspecifiedMatching Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref icd11:EC10 semapv:UnspecifiedMatching Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref OMIM:615704 semapv:UnspecifiedMatching Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref UMLS:C4749823 semapv:UnspecifiedMatching Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref MESH:C565820 semapv:UnspecifiedMatching Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 semapv:UnspecifiedMatching Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref UMLS:C1858723 semapv:UnspecifiedMatching @@ -8800,20 +10288,26 @@ Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref icd11:8A46 semapv Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref ICD10:G52.7 semapv:UnspecifiedMatching Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref ICD10:G52.7 semapv:UnspecifiedMatching Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref UMLS:C5190851 semapv:UnspecifiedMatching +Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref icd11:8A85 semapv:UnspecifiedMatching +Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref MESH:D019569 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref UMLS:C0278152 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref UMLS:C1841639 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref icd11:8B88.2 semapv:UnspecifiedMatching Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref ICD10:G50.0 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref ICD10:G50.0 semapv:UnspecifiedMatching Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 semapv:UnspecifiedMatching Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref MedDRA:10044652 semapv:UnspecifiedMatching Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref UMLS:C0040997 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref icd11:8B82.0 semapv:UnspecifiedMatching +Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10:G52.1 semapv:UnspecifiedMatching Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10:G52.1 semapv:UnspecifiedMatching Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref MESH:D020435 semapv:UnspecifiedMatching Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref MedDRA:10018391 semapv:UnspecifiedMatching Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS:C0154731 semapv:UnspecifiedMatching +Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref icd11:8B87 semapv:UnspecifiedMatching Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C538332 semapv:UnspecifiedMatching @@ -8823,14 +10317,17 @@ Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXr Orphanet:221109 Cranial neuralgia oboInOwl:hasDbXref UMLS:C0010269 semapv:UnspecifiedMatching Orphanet:221114 Acquired peripheral movement disorder oboInOwl:hasDbXref UMLS:C5680889 semapv:UnspecifiedMatching Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref ICD10:F81.2 semapv:UnspecifiedMatching +Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref ICD10:F81.2 semapv:UnspecifiedMatching Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 semapv:UnspecifiedMatching Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref MedDRA:10048608 semapv:UnspecifiedMatching Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref UMLS:C0017494 semapv:UnspecifiedMatching +Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref icd11:MB4C semapv:UnspecifiedMatching Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref MESH:C535823 semapv:UnspecifiedMatching Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref OMIM:600325 semapv:UnspecifiedMatching Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref UMLS:C0795939 semapv:UnspecifiedMatching +Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref MedDRA:10071718 semapv:UnspecifiedMatching @@ -8845,9 +10342,11 @@ Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 sem Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref UMLS:C5680892 semapv:UnspecifiedMatching Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref MESH:C567716 semapv:UnspecifiedMatching Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref OMIM:613177 semapv:UnspecifiedMatching Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref UMLS:C2750804 semapv:UnspecifiedMatching +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref MESH:C537632 semapv:UnspecifiedMatching @@ -8858,12 +10357,18 @@ Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbX Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref OMIM:217150 semapv:UnspecifiedMatching Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref UMLS:C4304748 semapv:UnspecifiedMatching Orphanet:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref UMLS:C4707329 semapv:UnspecifiedMatching +Orphanet:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref icd11:LD2F.Y semapv:UnspecifiedMatching +Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:239840 semapv:UnspecifiedMatching Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref UMLS:C4303793 semapv:UnspecifiedMatching +Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref icd11:LD27.3 semapv:UnspecifiedMatching +Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref UMLS:C0406464 semapv:UnspecifiedMatching +Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref icd11:EG30.1 semapv:UnspecifiedMatching Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref MESH:C535618 semapv:UnspecifiedMatching @@ -8874,6 +10379,7 @@ Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref icd11:LD27.0Y semapv:Unsp Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref ICD10:L68.1 semapv:UnspecifiedMatching Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref ICD10:L68.1 semapv:UnspecifiedMatching Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref UMLS:C0343072 semapv:UnspecifiedMatching +Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref icd11:EL10 semapv:UnspecifiedMatching Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref MESH:C538389 semapv:UnspecifiedMatching @@ -8883,6 +10389,7 @@ Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:307150 Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref UMLS:C0235864 semapv:UnspecifiedMatching Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref MESH:C563467 semapv:UnspecifiedMatching Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:UnspecifiedMatching Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 semapv:UnspecifiedMatching @@ -8897,10 +10404,12 @@ Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref OMIM:189 Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref UMLS:C0406735 semapv:UnspecifiedMatching Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796083 semapv:UnspecifiedMatching Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MedDRA:10029147 semapv:UnspecifiedMatching Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching @@ -8908,6 +10417,7 @@ Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 semap Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref icd11:GB90.4A semapv:UnspecifiedMatching Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref UMLS:C4303079 semapv:UnspecifiedMatching Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching @@ -8960,6 +10470,7 @@ Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:Un Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref MedDRA:10028933 semapv:UnspecifiedMatching Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C0158981 semapv:UnspecifiedMatching +Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref icd11:KB60.2 semapv:UnspecifiedMatching Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref MESH:C536138 semapv:UnspecifiedMatching @@ -8977,6 +10488,7 @@ Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref UMLS:C4275139 semapv:UnspecifiedMatching Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref ICD10:Q23.4 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref ICD10:Q23.4 semapv:UnspecifiedMatching Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MESH:D018636 semapv:UnspecifiedMatching Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MedDRA:10021076 semapv:UnspecifiedMatching Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:241550 semapv:UnspecifiedMatching @@ -8984,6 +10496,7 @@ Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:614435 sem Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref UMLS:C0152101 semapv:UnspecifiedMatching Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref icd11:LA89.3 semapv:UnspecifiedMatching Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536934 semapv:UnspecifiedMatching Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:276821 semapv:UnspecifiedMatching Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4304398 semapv:UnspecifiedMatching @@ -8996,11 +10509,13 @@ Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4510568 semapv:UnspecifiedMatching Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref MESH:C536904 semapv:UnspecifiedMatching Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref OMIM:188150 semapv:UnspecifiedMatching Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref UMLS:C4749768 semapv:UnspecifiedMatching Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref UMLS:C1858664 semapv:UnspecifiedMatching @@ -9008,12 +10523,15 @@ Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXre Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref MedDRA:10077451 semapv:UnspecifiedMatching Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C4087175 semapv:UnspecifiedMatching +Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref MedDRA:10077450 semapv:UnspecifiedMatching Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C4087174 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref MESH:C536262 semapv:UnspecifiedMatching Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref OMIM:179250 semapv:UnspecifiedMatching @@ -9051,8 +10569,10 @@ Orphanet:225689 Amino acid or protein metabolism disease with epilepsy oboInOwl: Orphanet:225692 Metal transport or utilization disorder with epilepsy oboInOwl:hasDbXref UMLS:C5680895 semapv:UnspecifiedMatching Orphanet:225696 Energy metabolism disorder with epilepsy oboInOwl:hasDbXref UMLS:C5680896 semapv:UnspecifiedMatching Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching +Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref OMIM:265430 semapv:UnspecifiedMatching Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref UMLS:C0456891 semapv:UnspecifiedMatching +Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref icd11:LA75.2 semapv:UnspecifiedMatching Orphanet:225700 Mitochondrial disease with epilepsy oboInOwl:hasDbXref UMLS:C5680897 semapv:UnspecifiedMatching Orphanet:225703 Mitochondrial disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680900 semapv:UnspecifiedMatching Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy oboInOwl:hasDbXref UMLS:C5680901 semapv:UnspecifiedMatching @@ -9066,6 +10586,7 @@ Orphanet:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref icd11:5C59 Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref UMLS:C0431694 semapv:UnspecifiedMatching +Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref icd11:LB30.4 semapv:UnspecifiedMatching Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref OMIM:241760 semapv:UnspecifiedMatching @@ -9074,12 +10595,15 @@ Orphanet:226292 Permanent congenital hypothyroidism oboInOwl:hasDbXref UMLS:C568 Orphanet:226292 Permanent congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching Orphanet:226295 Primary congenital hypothyroidism oboInOwl:hasDbXref UMLS:C3715197 semapv:UnspecifiedMatching Orphanet:226298 Central congenital hypothyroidism oboInOwl:hasDbXref UMLS:C3665349 semapv:UnspecifiedMatching +Orphanet:226298 Central congenital hypothyroidism oboInOwl:hasDbXref icd11:5A61.41 semapv:UnspecifiedMatching Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref UMLS:C4273672 semapv:UnspecifiedMatching +Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref UMLS:C5190849 semapv:UnspecifiedMatching +Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref icd11:5A00.03 semapv:UnspecifiedMatching Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching @@ -9102,7 +10626,9 @@ Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syn Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855788 semapv:UnspecifiedMatching Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:227 Diphallia oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching +Orphanet:227 Diphallia oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching Orphanet:227 Diphallia oboInOwl:hasDbXref UMLS:C0345322 semapv:UnspecifiedMatching +Orphanet:227 Diphallia oboInOwl:hasDbXref icd11:LB5Y semapv:UnspecifiedMatching Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref UMLS:C5679626 semapv:UnspecifiedMatching @@ -9122,6 +10648,7 @@ Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome obo Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref UMLS:C5554234 semapv:UnspecifiedMatching +Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref icd11:8D87.00 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching @@ -9129,9 +10656,14 @@ Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.1 semapv:U Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref MESH:C562840 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching @@ -9139,11 +10671,13 @@ Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:604370 semapv:U Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:612555 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:613399 semapv:UnspecifiedMatching Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref UMLS:C0346153 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref icd11:2C6Y semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref MESH:C562733 semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 semapv:UnspecifiedMatching +Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref MESH:C536274 semapv:UnspecifiedMatching Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref OMIM:242530 semapv:UnspecifiedMatching Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref UMLS:C4518580 semapv:UnspecifiedMatching @@ -9156,12 +10690,15 @@ Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref OMIM:612989 semapv:UnspecifiedMatching Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref UMLS:C5190807 semapv:UnspecifiedMatching Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref UMLS:C1535942 semapv:UnspecifiedMatching Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref UMLS:C3266026 semapv:UnspecifiedMatching Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref UMLS:C4706550 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching @@ -9171,6 +10708,7 @@ Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInO Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref UMLS:C3809383 semapv:UnspecifiedMatching Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C4304831 semapv:UnspecifiedMatching Orphanet:228113 Anal fistula oboInOwl:hasDbXref ICD10:K60.3 semapv:UnspecifiedMatching @@ -9179,7 +10717,9 @@ Orphanet:228113 Anal fistula oboInOwl:hasDbXref MedDRA:10002156 semapv:Unspecifi Orphanet:228113 Anal fistula oboInOwl:hasDbXref UMLS:C0205929 semapv:UnspecifiedMatching Orphanet:228113 Anal fistula oboInOwl:hasDbXref icd11:DB50.1 semapv:UnspecifiedMatching Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching +Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref UMLS:C4303478 semapv:UnspecifiedMatching +Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref icd11:4A44.Y semapv:UnspecifiedMatching Orphanet:228119 Fusariosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:228119 Fusariosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:228119 Fusariosis oboInOwl:hasDbXref MESH:D060585 semapv:UnspecifiedMatching @@ -9187,6 +10727,7 @@ Orphanet:228119 Fusariosis oboInOwl:hasDbXref MedDRA:10051919 semapv:Unspecified Orphanet:228119 Fusariosis oboInOwl:hasDbXref UMLS:C0276758 semapv:UnspecifiedMatching Orphanet:228119 Fusariosis oboInOwl:hasDbXref icd11:1F2Z semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.0 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.0 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.1 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.1 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.2 semapv:UnspecifiedMatching @@ -9204,7 +10745,14 @@ Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.9 semapv:Unspeci Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref MESH:D003047 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref MedDRA:10009825 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref UMLS:C0009186 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.0 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.00 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.01 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.1 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.10 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.11 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.12 semapv:UnspecifiedMatching Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.1Y semapv:UnspecifiedMatching Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref ICD10:I49.0 semapv:UnspecifiedMatching Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref ICD10:I49.0 semapv:UnspecifiedMatching @@ -9213,6 +10761,7 @@ Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:h Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref UMLS:C5679832 semapv:UnspecifiedMatching Orphanet:228145 Multiple sclerosis variant oboInOwl:hasDbXref UMLS:C5680912 semapv:UnspecifiedMatching Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching +Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref UMLS:C4707723 semapv:UnspecifiedMatching Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref icd11:8A4Y semapv:UnspecifiedMatching Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref ICD10:G37.5 semapv:UnspecifiedMatching @@ -9225,15 +10774,18 @@ Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref OMIM:609161 semapv:UnspecifiedMatching Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref UMLS:C4511004 semapv:UnspecifiedMatching Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref MESH:C567653 semapv:UnspecifiedMatching Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref OMIM:613287 semapv:UnspecifiedMatching Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref UMLS:C2750090 semapv:UnspecifiedMatching Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref UMLS:C4304672 semapv:UnspecifiedMatching Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref OMIM:604381 semapv:UnspecifiedMatching Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref UMLS:C4302746 semapv:UnspecifiedMatching Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -9244,21 +10796,33 @@ Orphanet:228218 Acquired dermis elastic tissue disorder oboInOwl:hasDbXref UMLS: Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue oboInOwl:hasDbXref UMLS:C5680911 semapv:UnspecifiedMatching Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue oboInOwl:hasDbXref UMLS:C5680910 semapv:UnspecifiedMatching Orphanet:228227 Late-onset focal dermal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228227 Late-onset focal dermal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228227 Late-onset focal dermal elastosis oboInOwl:hasDbXref UMLS:C4751167 semapv:UnspecifiedMatching Orphanet:228236 Linear focal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228236 Linear focal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228236 Linear focal elastosis oboInOwl:hasDbXref UMLS:C4751166 semapv:UnspecifiedMatching Orphanet:228240 Elastoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228240 Elastoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228240 Elastoderma oboInOwl:hasDbXref UMLS:C0406555 semapv:UnspecifiedMatching +Orphanet:228240 Elastoderma oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching +Orphanet:228243 Elastofibroma dorsi oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228243 Elastofibroma dorsi oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228243 Elastofibroma dorsi oboInOwl:hasDbXref UMLS:C0346042 semapv:UnspecifiedMatching Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C1274759 semapv:UnspecifiedMatching +Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching +Orphanet:228254 Elastoma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:228254 Elastoma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:228254 Elastoma oboInOwl:hasDbXref UMLS:C0473583 semapv:UnspecifiedMatching Orphanet:228254 Elastoma oboInOwl:hasDbXref icd11:LC2Y semapv:UnspecifiedMatching Orphanet:228264 Papular elastorrhexis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228264 Papular elastorrhexis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228264 Papular elastorrhexis oboInOwl:hasDbXref UMLS:C5680907 semapv:UnspecifiedMatching +Orphanet:228264 Papular elastorrhexis oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.1 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.1 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.2 semapv:UnspecifiedMatching Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.2 semapv:UnspecifiedMatching Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref MESH:D057088 semapv:UnspecifiedMatching Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref UMLS:C0406550 semapv:UnspecifiedMatching @@ -9267,30 +10831,46 @@ Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:Unspec Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref UMLS:C4518793 semapv:UnspecifiedMatching Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref UMLS:C0406549 semapv:UnspecifiedMatching Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref icd11:EE41.0 semapv:UnspecifiedMatching Orphanet:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref UMLS:C4706484 semapv:UnspecifiedMatching +Orphanet:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching +Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref UMLS:C4049455 semapv:UnspecifiedMatching +Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching +Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref UMLS:C4728147 semapv:UnspecifiedMatching +Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref MESH:C563461 semapv:UnspecifiedMatching Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref UMLS:C1833508 semapv:UnspecifiedMatching +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref MESH:C563462 semapv:UnspecifiedMatching Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref UMLS:C1833511 semapv:UnspecifiedMatching +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref MESH:C563463 semapv:UnspecifiedMatching Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref UMLS:C1833518 semapv:UnspecifiedMatching +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching Orphanet:228312 Autoimmune hemolytic anemia, cold type oboInOwl:hasDbXref MedDRA:10009868 semapv:UnspecifiedMatching Orphanet:228312 Autoimmune hemolytic anemia, cold type oboInOwl:hasDbXref icd11:3A20.1 semapv:UnspecifiedMatching Orphanet:228371 Foodborne botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:228371 Foodborne botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:228371 Foodborne botulism oboInOwl:hasDbXref UMLS:C1739094 semapv:UnspecifiedMatching +Orphanet:228371 Foodborne botulism oboInOwl:hasDbXref icd11:1A11.0 semapv:UnspecifiedMatching +Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref UMLS:C4749824 semapv:UnspecifiedMatching @@ -9298,6 +10878,7 @@ Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref icd11:8C Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref ICD10:L08.8 semapv:UnspecifiedMatching Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref ICD10:L08.8 semapv:UnspecifiedMatching Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref UMLS:C3267126 semapv:UnspecifiedMatching +Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref icd11:ED5Y semapv:UnspecifiedMatching Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:613443 semapv:UnspecifiedMatching @@ -9318,10 +10899,12 @@ Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punc Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304504 semapv:UnspecifiedMatching +Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.70 semapv:UnspecifiedMatching Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304532 semapv:UnspecifiedMatching +Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching @@ -9331,6 +10914,8 @@ Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref UMLS:C450 Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304526 semapv:UnspecifiedMatching +Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.40 semapv:UnspecifiedMatching +Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref UMLS:C3280030 semapv:UnspecifiedMatching @@ -9339,23 +10924,32 @@ Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref OMIM:613385 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref UMLS:C4755273 semapv:UnspecifiedMatching +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref icd11:4A43.Y semapv:UnspecifiedMatching +Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref UMLS:C2750069 semapv:UnspecifiedMatching Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref OMIM:109500 semapv:UnspecifiedMatching Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref UMLS:C5679631 semapv:UnspecifiedMatching Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref OMIM:147251 semapv:UnspecifiedMatching Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref UMLS:C3494175 semapv:UnspecifiedMatching +Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref icd11:LA30.4 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MESH:C537395 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref UMLS:C1863843 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref icd11:8A0Y semapv:UnspecifiedMatching +Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref ICD10:I71.0 semapv:UnspecifiedMatching Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref ICD10:I71.0 semapv:UnspecifiedMatching Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref UMLS:C0345050 semapv:UnspecifiedMatching +Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref icd11:BD50.Z semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref MESH:C537470 semapv:UnspecifiedMatching Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref MedDRA:10068494 semapv:UnspecifiedMatching @@ -9364,6 +10958,7 @@ Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref OMIM:619445 semap Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref UMLS:C0341306 semapv:UnspecifiedMatching Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref ICD10:J39.2 semapv:UnspecifiedMatching +Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref ICD10:J39.2 semapv:UnspecifiedMatching Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref OMIM:167500 semapv:UnspecifiedMatching Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref UMLS:C1997202 semapv:UnspecifiedMatching Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref icd11:LA50 semapv:UnspecifiedMatching @@ -9372,6 +10967,7 @@ Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref ICD10 Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref MESH:C535884 semapv:UnspecifiedMatching Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref OMIM:147900 semapv:UnspecifiedMatching Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref UMLS:C0268349 semapv:UnspecifiedMatching +Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref icd11:LD28.Y semapv:UnspecifiedMatching Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref OMIM:610549 semapv:UnspecifiedMatching @@ -9402,10 +10998,13 @@ Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref MedDRA:10022599 semapv Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref UMLS:C0152419 semapv:UnspecifiedMatching Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref icd11:LA8B.22 semapv:UnspecifiedMatching Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 semapv:UnspecifiedMatching Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref MedDRA:10058299 semapv:UnspecifiedMatching Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 semapv:UnspecifiedMatching Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref UMLS:C0268547 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref icd11:5C50.A0 semapv:UnspecifiedMatching +Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 semapv:UnspecifiedMatching Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 semapv:UnspecifiedMatching @@ -9426,11 +11025,13 @@ Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref OMIM:615237 sem Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref UMLS:C5441717 semapv:UnspecifiedMatching Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref icd11:LB15.2 semapv:UnspecifiedMatching Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref ICD10:J61 semapv:UnspecifiedMatching +Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref ICD10:J61 semapv:UnspecifiedMatching Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref MESH:D001195 semapv:UnspecifiedMatching Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref MedDRA:10003441 semapv:UnspecifiedMatching Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref UMLS:C0003949 semapv:UnspecifiedMatching Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref icd11:CA60.2 semapv:UnspecifiedMatching Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref MESH:C535670 semapv:UnspecifiedMatching Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref UMLS:C2930972 semapv:UnspecifiedMatching Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching @@ -9440,6 +11041,7 @@ Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref MESH:C535542 semapv: Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref OMIM:243440 semapv:UnspecifiedMatching Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref UMLS:C0432364 semapv:UnspecifiedMatching Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref MESH:C535544 semapv:UnspecifiedMatching Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref UMLS:C1327918 semapv:UnspecifiedMatching @@ -9448,24 +11050,31 @@ Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:Unspecifie Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref MESH:D054868 semapv:UnspecifiedMatching Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref OMIM:147791 semapv:UnspecifiedMatching Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref UMLS:C0795841 semapv:UnspecifiedMatching +Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref icd11:LD44.B0 semapv:UnspecifiedMatching +Orphanet:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref UMLS:C5679843 semapv:UnspecifiedMatching +Orphanet:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref MESH:C536193 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref OMIM:606408 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref UMLS:C1848029 semapv:UnspecifiedMatching +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225320 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5679842 semapv:UnspecifiedMatching +Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619115 semapv:UnspecifiedMatching Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619120 semapv:UnspecifiedMatching Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C4518787 semapv:UnspecifiedMatching +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref ICD10:Q84.5 semapv:UnspecifiedMatching Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref ICD10:Q84.5 semapv:UnspecifiedMatching Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref MESH:D053549 semapv:UnspecifiedMatching Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref MedDRA:10080088 semapv:UnspecifiedMatching @@ -9475,11 +11084,14 @@ Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:260130 semapv:Unspe Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615726 semapv:UnspecifiedMatching Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615728 semapv:UnspecifiedMatching Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref UMLS:C0265334 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching Orphanet:231 Dracunculiasis oboInOwl:hasDbXref ICD10:B72 semapv:UnspecifiedMatching Orphanet:231 Dracunculiasis oboInOwl:hasDbXref ICD10:B72 semapv:UnspecifiedMatching Orphanet:231 Dracunculiasis oboInOwl:hasDbXref MESH:D004320 semapv:UnspecifiedMatching Orphanet:231 Dracunculiasis oboInOwl:hasDbXref MedDRA:10013618 semapv:UnspecifiedMatching Orphanet:231 Dracunculiasis oboInOwl:hasDbXref UMLS:C0013100 semapv:UnspecifiedMatching +Orphanet:231 Dracunculiasis oboInOwl:hasDbXref icd11:1F64 semapv:UnspecifiedMatching +Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref OMIM:246000 semapv:UnspecifiedMatching Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref UMLS:C5680711 semapv:UnspecifiedMatching @@ -9499,6 +11111,7 @@ Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref OMIM:151001 Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref UMLS:C4707357 semapv:UnspecifiedMatching Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching Orphanet:231080 High-grade dysplasia in patients with Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching +Orphanet:231080 High-grade dysplasia in patients with Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching Orphanet:231080 High-grade dysplasia in patients with Barrett esophagus oboInOwl:hasDbXref UMLS:C5680921 semapv:UnspecifiedMatching Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.8 semapv:UnspecifiedMatching Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.8 semapv:UnspecifiedMatching @@ -9509,6 +11122,8 @@ Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref O Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:613686 semapv:UnspecifiedMatching Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:616566 semapv:UnspecifiedMatching Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref UMLS:C0265343 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching +Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching @@ -9519,29 +11134,43 @@ Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref MedDRA:10013 Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref UMLS:C0263591 semapv:UnspecifiedMatching Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref icd11:4A40.1 semapv:UnspecifiedMatching Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref UMLS:C5680922 semapv:UnspecifiedMatching +Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref UMLS:C5680918 semapv:UnspecifiedMatching +Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref UMLS:C5680919 semapv:UnspecifiedMatching +Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref UMLS:C5680920 semapv:UnspecifiedMatching +Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref UMLS:C5679840 semapv:UnspecifiedMatching Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref UMLS:C5680916 semapv:UnspecifiedMatching Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref UMLS:C5680917 semapv:UnspecifiedMatching Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref UMLS:C5679841 semapv:UnspecifiedMatching Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref OMIM:609889 semapv:UnspecifiedMatching Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref UMLS:C4510944 semapv:UnspecifiedMatching +Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref ICD10:I67.1 semapv:UnspecifiedMatching Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref ICD10:I67.1 semapv:UnspecifiedMatching Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:105800 semapv:UnspecifiedMatching @@ -9557,6 +11186,7 @@ Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:6125 Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:614252 semapv:UnspecifiedMatching Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:618734 semapv:UnspecifiedMatching Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref UMLS:C3839866 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref icd11:8B22.6 semapv:UnspecifiedMatching Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching @@ -9570,39 +11200,46 @@ Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:614869 semapv:Unsp Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:618632 semapv:UnspecifiedMatching Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref UMLS:C1568247 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref icd11:LD2H.4 semapv:UnspecifiedMatching Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:276901 semapv:UnspecifiedMatching Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:605472 semapv:UnspecifiedMatching Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref UMLS:C0339534 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref icd11:LD2H.4 semapv:UnspecifiedMatching Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref UMLS:C1568248 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref icd11:LD2H.4 semapv:UnspecifiedMatching Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref ICD10:P59.8 semapv:UnspecifiedMatching Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref ICD10:P59.8 semapv:UnspecifiedMatching Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref MESH:C562692 semapv:UnspecifiedMatching Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref OMIM:237900 semapv:UnspecifiedMatching Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref UMLS:C0270210 semapv:UnspecifiedMatching Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref UMLS:C0002875 semapv:UnspecifiedMatching Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref MedDRA:10062923 semapv:UnspecifiedMatching Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref UMLS:C0472767 semapv:UnspecifiedMatching Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref MESH:C565834 semapv:UnspecifiedMatching Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref UMLS:C1858990 semapv:UnspecifiedMatching Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly oboInOwl:hasDbXref UMLS:C5679839 semapv:UnspecifiedMatching Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref ICD10:D56.2 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref ICD10:D56.2 semapv:UnspecifiedMatching Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref MESH:C562716 semapv:UnspecifiedMatching Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref MedDRA:10012236 semapv:UnspecifiedMatching Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching @@ -9611,11 +11248,13 @@ Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref icd11:3A50.3 semapv:Un Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0221020 semapv:UnspecifiedMatching +Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref icd11:3A50.Y semapv:UnspecifiedMatching Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0472777 semapv:UnspecifiedMatching Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:231386 Beta-thalassemia with other manifestations oboInOwl:hasDbXref UMLS:C5680915 semapv:UnspecifiedMatching Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching @@ -9624,6 +11263,7 @@ Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:has Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C1839161 semapv:UnspecifiedMatching Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref MESH:D007589 semapv:UnspecifiedMatching Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref OMIM:147060 semapv:UnspecifiedMatching Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref UMLS:C2936739 semapv:UnspecifiedMatching @@ -9631,6 +11271,7 @@ Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboI Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref MESH:C563023 semapv:UnspecifiedMatching Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C0585216 semapv:UnspecifiedMatching @@ -9639,17 +11280,22 @@ Orphanet:231413 Variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C567 Orphanet:231416 Regional variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5679835 semapv:UnspecifiedMatching Orphanet:231419 Functional variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5679836 semapv:UnspecifiedMatching Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5190783 semapv:UnspecifiedMatching Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C4707803 semapv:UnspecifiedMatching Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref UMLS:C5190881 semapv:UnspecifiedMatching Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref UMLS:C2315246 semapv:UnspecifiedMatching Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref UMLS:C4707661 semapv:UnspecifiedMatching Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -9660,17 +11306,20 @@ Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref OMIM:243800 semapv:U Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS:C0175692 semapv:UnspecifiedMatching Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref OMIM:614073 semapv:UnspecifiedMatching Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref UMLS:C5679834 semapv:UnspecifiedMatching Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614072 semapv:UnspecifiedMatching Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614074 semapv:UnspecifiedMatching Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614075 semapv:UnspecifiedMatching Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref UMLS:C5679833 semapv:UnspecifiedMatching Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614076 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching @@ -9678,9 +11327,11 @@ Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasD Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref UMLS:C5680913 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:226440 semapv:UnspecifiedMatching Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4751165 semapv:UnspecifiedMatching Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching @@ -9688,10 +11339,13 @@ Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C5679846 semapv:UnspecifiedMatching Orphanet:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref UMLS:C4751164 semapv:UnspecifiedMatching +Orphanet:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref icd11:KC31 semapv:UnspecifiedMatching Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref UMLS:C4274967 semapv:UnspecifiedMatching +Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref icd11:5A72.0 semapv:UnspecifiedMatching Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref MESH:C535882 semapv:UnspecifiedMatching @@ -9700,29 +11354,35 @@ Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref UMLS:C0796002 Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref UMLS:C5679847 semapv:UnspecifiedMatching Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref UMLS:C4755311 semapv:UnspecifiedMatching Orphanet:231637 Rare surgically correctable form of primary aldosteronism oboInOwl:hasDbXref UMLS:C5680925 semapv:UnspecifiedMatching Orphanet:231641 Rare non surgically correctable form of primary aldosteronism oboInOwl:hasDbXref UMLS:C5680926 semapv:UnspecifiedMatching Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:618160 semapv:UnspecifiedMatching Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref MESH:C567564 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:618157 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref UMLS:C2748571 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref MESH:C562704 semapv:UnspecifiedMatching Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref UMLS:C0271567 semapv:UnspecifiedMatching Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref OMIM:221750 semapv:UnspecifiedMatching Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref UMLS:C4749825 semapv:UnspecifiedMatching Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching @@ -9750,6 +11410,8 @@ Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref OMIM:216100 semapv:Unsp Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref UMLS:C0796099 semapv:UnspecifiedMatching Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.1 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.1 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching @@ -9759,6 +11421,7 @@ Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref OMIM:603903 semapv:Unspecifie Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref icd11:3A51.1 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref icd11:3A51.2 semapv:UnspecifiedMatching +Orphanet:232035 Infectious embryofetopathy oboInOwl:hasDbXref icd11:LD2F.Y semapv:UnspecifiedMatching Orphanet:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2321 Jung syndrome oboInOwl:hasDbXref MESH:C537694 semapv:UnspecifiedMatching @@ -9774,14 +11437,17 @@ Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref UMLS:C0796004 semapv:Unspecifie Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:232288 Syndrome with alpha-thalassemia as a major feature oboInOwl:hasDbXref UMLS:C5680928 semapv:UnspecifiedMatching Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref MESH:C537157 semapv:UnspecifiedMatching Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref OMIM:241410 semapv:UnspecifiedMatching Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref UMLS:C1855840 semapv:UnspecifiedMatching Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref MESH:C537706 semapv:UnspecifiedMatching Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref OMIM:259690 semapv:UnspecifiedMatching Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref UMLS:C1850140 semapv:UnspecifiedMatching +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref UMLS:C0432313 semapv:UnspecifiedMatching @@ -9794,6 +11460,7 @@ Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref MESH:C537008 semapv:Uns Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref OMIM:244300 semapv:UnspecifiedMatching Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref UMLS:C0796005 semapv:UnspecifiedMatching Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref MESH:C537319 semapv:UnspecifiedMatching Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref OMIM:183800 semapv:UnspecifiedMatching Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref UMLS:C1866740 semapv:UnspecifiedMatching @@ -9806,18 +11473,21 @@ Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:Uns Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:617041 semapv:UnspecifiedMatching Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref UMLS:C0013261 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref icd11:9C82.2 semapv:UnspecifiedMatching Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref MESH:D059885 semapv:UnspecifiedMatching Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref MedDRA:10058423 semapv:UnspecifiedMatching Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref OMIM:141000 semapv:UnspecifiedMatching Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref UMLS:C0221025 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref icd11:KA8Y semapv:UnspecifiedMatching Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref ICD10:M30.3 semapv:UnspecifiedMatching Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref ICD10:M30.3 semapv:UnspecifiedMatching Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref MESH:D009080 semapv:UnspecifiedMatching Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref MedDRA:10023320 semapv:UnspecifiedMatching Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 semapv:UnspecifiedMatching Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref UMLS:C0026691 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref icd11:4A44.5 semapv:UnspecifiedMatching Orphanet:2332 KBG syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2332 KBG syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2332 KBG syndrome oboInOwl:hasDbXref MESH:C537015 semapv:UnspecifiedMatching @@ -9826,31 +11496,38 @@ Orphanet:2332 KBG syndrome oboInOwl:hasDbXref OMIM:148050 semapv:UnspecifiedMatc Orphanet:2332 KBG syndrome oboInOwl:hasDbXref UMLS:C0220687 semapv:UnspecifiedMatching Orphanet:2332 KBG syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref MedDRA:10073228 semapv:UnspecifiedMatching Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C0265291 semapv:UnspecifiedMatching Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref UMLS:C1835698 semapv:UnspecifiedMatching +Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref icd11:9A7Y semapv:UnspecifiedMatching Orphanet:233655 Rare genetic vascular disease oboInOwl:hasDbXref UMLS:C5680923 semapv:UnspecifiedMatching Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref OMIM:600231 semapv:UnspecifiedMatching Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref UMLS:C4274840 semapv:UnspecifiedMatching Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching Orphanet:2338 Isolated punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679617 semapv:UnspecifiedMatching Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref MESH:C536158 semapv:UnspecifiedMatching Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:308830 semapv:UnspecifiedMatching Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C4510086 semapv:UnspecifiedMatching Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 semapv:UnspecifiedMatching Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MedDRA:10013800 semapv:UnspecifiedMatching Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS:C0022350 semapv:UnspecifiedMatching Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref icd11:5C58.02 semapv:UnspecifiedMatching Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref MESH:C536159 semapv:UnspecifiedMatching Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:308800 semapv:UnspecifiedMatching Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching @@ -9858,10 +11535,12 @@ Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref UMLS:C0343057 semapv:UnspecifiedMatching Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref MESH:C537627 semapv:UnspecifiedMatching Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref OMIM:245010 semapv:UnspecifiedMatching Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref UMLS:C1855627 semapv:UnspecifiedMatching Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref MESH:D007714 semapv:UnspecifiedMatching Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref MedDRA:10023464 semapv:UnspecifiedMatching Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:118100 semapv:UnspecifiedMatching @@ -9881,6 +11560,7 @@ Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref MESH:C537208 semap Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref OMIM:245190 semapv:UnspecifiedMatching Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref UMLS:C1855605 semapv:UnspecifiedMatching Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching @@ -9890,6 +11570,7 @@ Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbX Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref UMLS:C0270958 semapv:UnspecifiedMatching Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref MESH:C535718 semapv:UnspecifiedMatching Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref MedDRA:10059589 semapv:UnspecifiedMatching Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref OMIM:223370 semapv:UnspecifiedMatching @@ -9909,6 +11590,7 @@ Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref UMLS:C1834038 semapv:Un Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2355 Kumar-Levick syndrome oboInOwl:hasDbXref OMIM:106990 semapv:UnspecifiedMatching Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref MESH:D016080 semapv:UnspecifiedMatching Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref MedDRA:10049005 semapv:UnspecifiedMatching Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref OMIM:182990 semapv:UnspecifiedMatching @@ -9920,12 +11602,15 @@ Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref ICD10:J98.4 semapv:Unspecifie Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref MESH:D001994 semapv:UnspecifiedMatching Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref MedDRA:10064585 semapv:UnspecifiedMatching Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref UMLS:C0006281 semapv:UnspecifiedMatching +Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref icd11:CB40.Y semapv:UnspecifiedMatching Orphanet:235832 Congenital vascular bone syndrome oboInOwl:hasDbXref UMLS:C5680924 semapv:UnspecifiedMatching +Orphanet:235832 Congenital vascular bone syndrome oboInOwl:hasDbXref icd11:LD26.6 semapv:UnspecifiedMatching Orphanet:235936 Familial hyperaldosteronism oboInOwl:hasDbXref MESH:C580087 semapv:UnspecifiedMatching Orphanet:235936 Familial hyperaldosteronism oboInOwl:hasDbXref UMLS:C3713420 semapv:UnspecifiedMatching Orphanet:236 Trisomy 9p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:236 Trisomy 9p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:236 Trisomy 9p oboInOwl:hasDbXref UMLS:C0265428 semapv:UnspecifiedMatching +Orphanet:236 Trisomy 9p oboInOwl:hasDbXref icd11:LD41.81 semapv:UnspecifiedMatching Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref MESH:C538132 semapv:UnspecifiedMatching @@ -9936,35 +11621,44 @@ Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:62019 Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref UMLS:C0265269 semapv:UnspecifiedMatching Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:612933 semapv:UnspecifiedMatching Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614128 semapv:UnspecifiedMatching Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5575057 semapv:UnspecifiedMatching Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:2368 Gastroschisis oboInOwl:hasDbXref ICD10:Q79.3 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref ICD10:Q79.3 semapv:UnspecifiedMatching Orphanet:2368 Gastroschisis oboInOwl:hasDbXref MESH:D020139 semapv:UnspecifiedMatching Orphanet:2368 Gastroschisis oboInOwl:hasDbXref MedDRA:10018046 semapv:UnspecifiedMatching Orphanet:2368 Gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching Orphanet:2368 Gastroschisis oboInOwl:hasDbXref UMLS:C0265706 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref icd11:LB02 semapv:UnspecifiedMatching Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref UMLS:C4274839 semapv:UnspecifiedMatching Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:237 Duplication of urethra oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching +Orphanet:237 Duplication of urethra oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching Orphanet:237 Duplication of urethra oboInOwl:hasDbXref UMLS:C0266348 semapv:UnspecifiedMatching Orphanet:237 Duplication of urethra oboInOwl:hasDbXref icd11:LB31.5 semapv:UnspecifiedMatching Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref OMIM:608545 semapv:UnspecifiedMatching Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref UMLS:C4707236 semapv:UnspecifiedMatching Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref MESH:C537872 semapv:UnspecifiedMatching Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref OMIM:245650 semapv:UnspecifiedMatching Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref UMLS:C4304741 semapv:UnspecifiedMatching Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching Orphanet:2372 Laryngocele oboInOwl:hasDbXref ICD10:Q31.3 semapv:UnspecifiedMatching +Orphanet:2372 Laryngocele oboInOwl:hasDbXref ICD10:Q31.3 semapv:UnspecifiedMatching Orphanet:2372 Laryngocele oboInOwl:hasDbXref MESH:D059608 semapv:UnspecifiedMatching Orphanet:2372 Laryngocele oboInOwl:hasDbXref MedDRA:10023885 semapv:UnspecifiedMatching Orphanet:2372 Laryngocele oboInOwl:hasDbXref UMLS:C0265761 semapv:UnspecifiedMatching +Orphanet:2372 Laryngocele oboInOwl:hasDbXref icd11:LA71.1 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref ICD10:Q31.5 semapv:UnspecifiedMatching Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref ICD10:Q31.5 semapv:UnspecifiedMatching Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref MESH:D055092 semapv:UnspecifiedMatching Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref MedDRA:10060786 semapv:UnspecifiedMatching @@ -9976,6 +11670,7 @@ Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:Uns Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref MedDRA:10023871 semapv:UnspecifiedMatching Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref OMIM:150360 semapv:UnspecifiedMatching Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref UMLS:C0152416 semapv:UnspecifiedMatching +Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:308850 semapv:UnspecifiedMatching @@ -9986,24 +11681,30 @@ Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MESH:D007849 semapv:Unsp Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MedDRA:10056710 semapv:UnspecifiedMatching Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref OMIM:245800 semapv:UnspecifiedMatching Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS:C0023138 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref MESH:C535689 semapv:UnspecifiedMatching Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref OMIM:135750 semapv:UnspecifiedMatching Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref UMLS:C1851100 semapv:UnspecifiedMatching Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537179 semapv:UnspecifiedMatching Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796195 semapv:UnspecifiedMatching +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD90.1 semapv:UnspecifiedMatching Orphanet:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:238 Digestive duplication oboInOwl:hasDbXref UMLS:C5681230 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MESH:D007873 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MedDRA:10034735 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref OMIM:150600 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MESH:D065768 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MedDRA:10048816 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching @@ -10011,8 +11712,11 @@ Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:616346 semapv:Unsp Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:617113 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:618141 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref UMLS:C0238111 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref icd11:8A62.1 semapv:UnspecifiedMatching +Orphanet:238269 AApoAII amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:238269 AApoAII amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:238269 AApoAII amyloidosis oboInOwl:hasDbXref UMLS:C5679845 semapv:UnspecifiedMatching +Orphanet:238269 AApoAII amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref UMLS:C5190834 semapv:UnspecifiedMatching @@ -10020,15 +11724,18 @@ Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXr Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:300816 semapv:UnspecifiedMatching Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS:C4302745 semapv:UnspecifiedMatching +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref OMIM:608636 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304726 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.E semapv:UnspecifiedMatching Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref MESH:C567730 semapv:UnspecifiedMatching Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref OMIM:613135 semapv:UnspecifiedMatching Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751067 semapv:UnspecifiedMatching +Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref icd11:8A02.12 semapv:UnspecifiedMatching Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref MESH:C567040 semapv:UnspecifiedMatching @@ -10044,6 +11751,7 @@ Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:607748 semapv:UnspecifiedMatching @@ -10056,14 +11764,18 @@ Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbX Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref UMLS:C3554540 semapv:UnspecifiedMatching Orphanet:238510 Lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C0024314 semapv:UnspecifiedMatching Orphanet:238517 Hypotonia-cystinuria type 1 syndrome oboInOwl:hasDbXref UMLS:C5680931 semapv:UnspecifiedMatching +Orphanet:238517 Hypotonia-cystinuria type 1 syndrome oboInOwl:hasDbXref icd11:GB90.40 semapv:UnspecifiedMatching Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref UMLS:C4755274 semapv:UnspecifiedMatching +Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref icd11:GB90.40 semapv:UnspecifiedMatching Orphanet:238536 Congenital secondary polycythemia oboInOwl:hasDbXref UMLS:C5679848 semapv:UnspecifiedMatching Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref OMIM:263400 semapv:UnspecifiedMatching Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref UMLS:C4749274 semapv:UnspecifiedMatching +Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref icd11:3A80.0 semapv:UnspecifiedMatching Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:612567 semapv:UnspecifiedMatching @@ -10072,6 +11784,7 @@ Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurr Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref OMIM:613618 semapv:UnspecifiedMatching +Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching @@ -10080,10 +11793,12 @@ Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboI Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref UMLS:C0751436 semapv:UnspecifiedMatching Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref ICD10:K65.8 semapv:UnspecifiedMatching +Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref ICD10:K65.8 semapv:UnspecifiedMatching Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref MedDRA:10063031 semapv:UnspecifiedMatching Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref UMLS:C0267770 semapv:UnspecifiedMatching Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4749769 semapv:UnspecifiedMatching Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref ICD10:G25.2 semapv:UnspecifiedMatching Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref ICD10:G25.2 semapv:UnspecifiedMatching @@ -10091,9 +11806,13 @@ Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref MESH:C536418 semap Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref UMLS:C0878578 semapv:UnspecifiedMatching Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref icd11:8A04.1 semapv:UnspecifiedMatching Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref UMLS:C5680933 semapv:UnspecifiedMatching +Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.1 semapv:UnspecifiedMatching Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.1 semapv:UnspecifiedMatching Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching @@ -10101,49 +11820,63 @@ Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOw Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref UMLS:C5680932 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref UMLS:C0033845 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref icd11:8D60.Y semapv:UnspecifiedMatching Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref ICD10:Q62.7 semapv:UnspecifiedMatching +Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref ICD10:Q62.7 semapv:UnspecifiedMatching Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref UMLS:C0431752 semapv:UnspecifiedMatching Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref icd11:LB31.7 semapv:UnspecifiedMatching Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref UMLS:C5680937 semapv:UnspecifiedMatching +Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref icd11:LB31.1 semapv:UnspecifiedMatching Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref UMLS:C5680936 semapv:UnspecifiedMatching +Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref icd11:LB31.1 semapv:UnspecifiedMatching Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref UMLS:C5680935 semapv:UnspecifiedMatching +Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref icd11:LB31.1 semapv:UnspecifiedMatching Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref UMLS:C5680934 semapv:UnspecifiedMatching +Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref icd11:LB31.1 semapv:UnspecifiedMatching +Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5679849 semapv:UnspecifiedMatching +Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref OMIM:275120 semapv:UnspecifiedMatching Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref UMLS:C0271585 semapv:UnspecifiedMatching +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref UMLS:C4751432 semapv:UnspecifiedMatching +Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref icd11:5A00.03 semapv:UnspecifiedMatching Orphanet:238696 Transient congenital hypothyroidism due to maternal factor oboInOwl:hasDbXref UMLS:C5680929 semapv:UnspecifiedMatching Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref UMLS:C5680930 semapv:UnspecifiedMatching Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref ICD10:Q84.4 semapv:UnspecifiedMatching +Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref ICD10:Q84.4 semapv:UnspecifiedMatching Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref MESH:C535889 semapv:UnspecifiedMatching Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref OMIM:151600 semapv:UnspecifiedMatching Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref UMLS:C4551625 semapv:UnspecifiedMatching Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:157600 semapv:UnspecifiedMatching Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:614508 semapv:UnspecifiedMatching Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:616059 semapv:UnspecifiedMatching Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:618264 semapv:UnspecifiedMatching Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref UMLS:C5191311 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref icd11:8A0Y semapv:UnspecifiedMatching +Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref OMIM:613689 semapv:UnspecifiedMatching Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref UMLS:C3150946 semapv:UnspecifiedMatching @@ -10151,6 +11884,7 @@ Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semap Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref OMIM:613509 semapv:UnspecifiedMatching Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304530 semapv:UnspecifiedMatching +Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.40 semapv:UnspecifiedMatching Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref OMIM:251750 semapv:UnspecifiedMatching @@ -10160,11 +11894,13 @@ Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome oboInOwl:hasDbX Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304540 semapv:UnspecifiedMatching +Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.10 semapv:UnspecifiedMatching Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref MedDRA:10081505 semapv:UnspecifiedMatching Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref OMIM:200150 semapv:UnspecifiedMatching Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 semapv:UnspecifiedMatching +Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref MESH:C535726 semapv:UnspecifiedMatching @@ -10183,20 +11919,27 @@ Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref MESH: Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref OMIM:122580 semapv:UnspecifiedMatching Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref UMLS:C1852523 semapv:UnspecifiedMatching Orphanet:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching +Orphanet:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching +Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref MESH:C535736 semapv:UnspecifiedMatching Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref OMIM:613001 semapv:UnspecifiedMatching Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref UMLS:C0406612 semapv:UnspecifiedMatching +Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref icd11:EF02.1 semapv:UnspecifiedMatching Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref MESH:D008069 semapv:UnspecifiedMatching Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 semapv:UnspecifiedMatching Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0023804 semapv:UnspecifiedMatching +Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref icd11:EF02.1 semapv:UnspecifiedMatching +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref MESH:C538338 semapv:UnspecifiedMatching Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref OMIM:167730 semapv:UnspecifiedMatching Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref UMLS:C1868660 semapv:UnspecifiedMatching +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching @@ -10215,34 +11958,43 @@ Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXr Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref MESH:C536988 semapv:UnspecifiedMatching Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref OMIM:252320 semapv:UnspecifiedMatching Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref UMLS:C1854961 semapv:UnspecifiedMatching +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref icd11:8C2Y semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:601104 semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching +Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref UMLS:C5679851 semapv:UnspecifiedMatching +Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref UMLS:C5679850 semapv:UnspecifiedMatching +Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240371 Syndromic obesity oboInOwl:hasDbXref UMLS:C5680938 semapv:UnspecifiedMatching Orphanet:2404 Loiasis oboInOwl:hasDbXref ICD10:B74.3 semapv:UnspecifiedMatching +Orphanet:2404 Loiasis oboInOwl:hasDbXref ICD10:B74.3 semapv:UnspecifiedMatching Orphanet:2404 Loiasis oboInOwl:hasDbXref MESH:D008118 semapv:UnspecifiedMatching Orphanet:2404 Loiasis oboInOwl:hasDbXref MedDRA:10024797 semapv:UnspecifiedMatching Orphanet:2404 Loiasis oboInOwl:hasDbXref UMLS:C0023968 semapv:UnspecifiedMatching +Orphanet:2404 Loiasis oboInOwl:hasDbXref icd11:1F66.0 semapv:UnspecifiedMatching Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref ICD10:H90.0 semapv:UnspecifiedMatching Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref ICD10:H90.0 semapv:UnspecifiedMatching Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref OMIM:128980 semapv:UnspecifiedMatching Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref UMLS:C4302507 semapv:UnspecifiedMatching +Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref ICD10:G83.8 semapv:UnspecifiedMatching Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref ICD10:G83.8 semapv:UnspecifiedMatching Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref MESH:D000080422 semapv:UnspecifiedMatching @@ -10250,6 +12002,7 @@ Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref MedDRA:10024792 semapv:Unspe Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref UMLS:C0023944 semapv:UnspecifiedMatching Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref icd11:8E45 semapv:UnspecifiedMatching Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref MESH:C537032 semapv:UnspecifiedMatching Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref MedDRA:10062987 semapv:UnspecifiedMatching Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref OMIM:245660 semapv:UnspecifiedMatching @@ -10264,6 +12017,7 @@ Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref icd1 Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref UMLS:C4707726 semapv:UnspecifiedMatching +Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref MESH:C537037 semapv:UnspecifiedMatching @@ -10277,12 +12031,14 @@ Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:1275 Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:612715 semapv:UnspecifiedMatching Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:615402 semapv:UnspecifiedMatching Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS:C2930995 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref icd11:EC23.Y semapv:UnspecifiedMatching Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref MESH:C543092 semapv:UnspecifiedMatching Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref OMIM:240950 semapv:UnspecifiedMatching Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref UMLS:C1855859 semapv:UnspecifiedMatching Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref OMIM:601450 semapv:UnspecifiedMatching Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4706570 semapv:UnspecifiedMatching Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching @@ -10297,6 +12053,7 @@ Orphanet:2415 Rare lymphatic malformation oboInOwl:hasDbXref UMLS:C5575909 semap Orphanet:2415 Rare lymphatic malformation oboInOwl:hasDbXref icd11:LA90.1 semapv:UnspecifiedMatching Orphanet:2416 Congenital primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5680523 semapv:UnspecifiedMatching Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref MedDRA:10084327 semapv:UnspecifiedMatching Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:233420 semapv:UnspecifiedMatching @@ -10307,11 +12064,14 @@ Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:613080 se Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref UMLS:C2936694 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref icd11:LD2A.1 semapv:UnspecifiedMatching +Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref MedDRA:10037418 semapv:UnspecifiedMatching Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref UMLS:C4273669 semapv:UnspecifiedMatching Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref MESH:C537718 semapv:UnspecifiedMatching Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref UMLS:C2931595 semapv:UnspecifiedMatching Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -10320,6 +12080,7 @@ Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasD Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:600302 semapv:UnspecifiedMatching Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1838281 semapv:UnspecifiedMatching Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref MESH:D023961 semapv:UnspecifiedMatching Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:233300 semapv:UnspecifiedMatching Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:300510 semapv:UnspecifiedMatching @@ -10328,17 +12089,20 @@ Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618078 semapv:Unsp Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618117 semapv:UnspecifiedMatching Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618723 semapv:UnspecifiedMatching Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0949595 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref icd11:LB45.1 semapv:UnspecifiedMatching Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref MESH:C531735 semapv:UnspecifiedMatching Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref OMIM:153630 semapv:UnspecifiedMatching Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref UMLS:C0009677 semapv:UnspecifiedMatching +Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref icd11:LA31.0 semapv:UnspecifiedMatching Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref MESH:C537830 semapv:UnspecifiedMatching Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref OMIM:248110 semapv:UnspecifiedMatching Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref UMLS:C4721892 semapv:UnspecifiedMatching Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref MESH:C565278 semapv:UnspecifiedMatching Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:605850 semapv:UnspecifiedMatching Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1853892 semapv:UnspecifiedMatching @@ -10347,6 +12111,8 @@ Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref ICD10:O26.6 se Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MESH:C537957 semapv:UnspecifiedMatching Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MedDRA:10000746 semapv:UnspecifiedMatching Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref UMLS:C1455728 semapv:UnspecifiedMatching +Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref icd11:JA65.0 semapv:UnspecifiedMatching +Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 oboInOwl:hasDbXref ICD10:E10 semapv:UnspecifiedMatching Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 oboInOwl:hasDbXref ICD10:E10 semapv:UnspecifiedMatching Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537836 semapv:UnspecifiedMatching Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1835172 semapv:UnspecifiedMatching @@ -10356,6 +12122,7 @@ Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref MESH:C566662 semapv:Un Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref OMIM:183802 semapv:UnspecifiedMatching Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref UMLS:C1866739 semapv:UnspecifiedMatching Orphanet:243761 NON RARE IN EUROPE: Essential hypertension oboInOwl:hasDbXref ICD10:I10 semapv:UnspecifiedMatching +Orphanet:243761 NON RARE IN EUROPE: Essential hypertension oboInOwl:hasDbXref ICD10:I10 semapv:UnspecifiedMatching Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref MESH:C535627 semapv:UnspecifiedMatching @@ -10422,6 +12189,7 @@ Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:620197 semapv:Un Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref UMLS:C4551720 semapv:UnspecifiedMatching Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref MedDRA:10079827 semapv:UnspecifiedMatching Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:183600 semapv:UnspecifiedMatching Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:225300 semapv:UnspecifiedMatching @@ -10437,6 +12205,7 @@ Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref OMIM:30824 Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref UMLS:C0549463 semapv:UnspecifiedMatching Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching +Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref MESH:D017359 semapv:UnspecifiedMatching Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref MedDRA:10049058 semapv:UnspecifiedMatching Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref UMLS:C0162739 semapv:UnspecifiedMatching @@ -10445,6 +12214,7 @@ Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation oboInOwl:hasDbXref UMLS:C5680696 semapv:UnspecifiedMatching Orphanet:244283 Biliary atresia with splenic malformation syndrome oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching +Orphanet:244283 Biliary atresia with splenic malformation syndrome oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching Orphanet:244283 Biliary atresia with splenic malformation syndrome oboInOwl:hasDbXref UMLS:C4274029 semapv:UnspecifiedMatching Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies oboInOwl:hasDbXref UMLS:C5679573 semapv:UnspecifiedMatching Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching @@ -10459,14 +12229,17 @@ Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref OMIM:612015 semapv:UnspecifiedMatchi Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref UMLS:C2677590 semapv:UnspecifiedMatching Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref MESH:D015615 semapv:UnspecifiedMatching Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref MedDRA:10087693 semapv:UnspecifiedMatching Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref UMLS:C0010668 semapv:UnspecifiedMatching +Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref icd11:LA75.4 semapv:UnspecifiedMatching Orphanet:2445 Conotruncal heart malformations oboInOwl:hasDbXref MESH:C535464 semapv:UnspecifiedMatching Orphanet:2445 Conotruncal heart malformations oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching Orphanet:2445 Conotruncal heart malformations oboInOwl:hasDbXref UMLS:C1857586 semapv:UnspecifiedMatching Orphanet:2447 Congenital mitral malformation oboInOwl:hasDbXref UMLS:C5680882 semapv:UnspecifiedMatching Orphanet:245 Nager syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:245 Nager syndrome oboInOwl:hasDbXref MESH:C538184 semapv:UnspecifiedMatching Orphanet:245 Nager syndrome oboInOwl:hasDbXref MedDRA:10084410 semapv:UnspecifiedMatching Orphanet:245 Nager syndrome oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching @@ -10477,19 +12250,26 @@ Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref ICD10:Q27.8 Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref MESH:C563977 semapv:UnspecifiedMatching Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref OMIM:600195 semapv:UnspecifiedMatching Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref UMLS:C1838437 semapv:UnspecifiedMatching +Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref icd11:LC51 semapv:UnspecifiedMatching Orphanet:2453 Malpuech syndrome oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching Orphanet:2453 Malpuech syndrome oboInOwl:hasDbXref UMLS:C0796032 semapv:UnspecifiedMatching Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref OMIM:163700 semapv:UnspecifiedMatching Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref UMLS:C4707878 semapv:UnspecifiedMatching +Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref icd11:LB63 semapv:UnspecifiedMatching +Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref UMLS:C0432291 semapv:UnspecifiedMatching +Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref icd11:LD27.6Z semapv:UnspecifiedMatching +Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref ICD10:B74.4 semapv:UnspecifiedMatching Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref ICD10:B74.4 semapv:UnspecifiedMatching Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref MESH:D008368 semapv:UnspecifiedMatching Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref UMLS:C0024759 semapv:UnspecifiedMatching +Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref icd11:1F66.1 semapv:UnspecifiedMatching +Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref MESH:C537680 semapv:UnspecifiedMatching Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref OMIM:263750 semapv:UnspecifiedMatching @@ -10520,6 +12300,7 @@ Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability synd Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4518565 semapv:UnspecifiedMatching Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref OMIM:223330 semapv:UnspecifiedMatching Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref UMLS:C4517371 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching @@ -10527,6 +12308,8 @@ Orphanet:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMat Orphanet:2466 MASA syndrome oboInOwl:hasDbXref MESH:C536029 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref UMLS:C0795953 semapv:UnspecifiedMatching +Orphanet:2466 MASA syndrome oboInOwl:hasDbXref icd11:8B44.02 semapv:UnspecifiedMatching +Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref MedDRA:10042949 semapv:UnspecifiedMatching @@ -10535,11 +12318,14 @@ Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0 semapv:Unspe Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref MESH:D019571 semapv:UnspecifiedMatching Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref MedDRA:10058093 semapv:UnspecifiedMatching Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref UMLS:C0349788 semapv:UnspecifiedMatching +Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref MESH:C537768 semapv:UnspecifiedMatching Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref OMIM:615524 semapv:UnspecifiedMatching Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref UMLS:C1832661 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref MESH:C538158 semapv:UnspecifiedMatching @@ -10547,6 +12333,7 @@ Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref OMIM:248950 semapv:Unspecifi Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref UMLS:C0796038 semapv:UnspecifiedMatching Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching +Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref UMLS:C4553710 semapv:UnspecifiedMatching Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching @@ -10565,6 +12352,7 @@ Orphanet:247242 Acquired ataxia oboInOwl:hasDbXref icd11:8A03.3 semapv:Unspecifi Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 semapv:UnspecifiedMatching +Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref MedDRA:10035667 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref UMLS:C0155866 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref icd11:1B97 semapv:UnspecifiedMatching @@ -10584,11 +12372,14 @@ Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:U Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MedDRA:10052312 semapv:UnspecifiedMatching Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS:C0948368 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:616106 semapv:UnspecifiedMatching Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref UMLS:C0343055 semapv:UnspecifiedMatching +Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref icd11:EA90.40 semapv:UnspecifiedMatching +Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref UMLS:C5191076 semapv:UnspecifiedMatching Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -10597,6 +12388,7 @@ Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref MESH:C536700 Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref OMIM:277740 semapv:UnspecifiedMatching Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref UMLS:C1848463 semapv:UnspecifiedMatching Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:609820 semapv:UnspecifiedMatching Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:611783 semapv:UnspecifiedMatching Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref UMLS:C5190864 semapv:UnspecifiedMatching @@ -10606,22 +12398,32 @@ Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOw Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4304829 semapv:UnspecifiedMatching Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref MedDRA:10058298 semapv:UnspecifiedMatching Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref UMLS:C4721769 semapv:UnspecifiedMatching +Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref icd11:5C50.A3 semapv:UnspecifiedMatching +Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref UMLS:C5679618 semapv:UnspecifiedMatching +Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref icd11:5C50.A3 semapv:UnspecifiedMatching +Orphanet:247573 Late-onset citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247573 Late-onset citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247573 Late-onset citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching Orphanet:247582 Citrin deficiency oboInOwl:hasDbXref UMLS:C1997910 semapv:UnspecifiedMatching Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref MESH:C538053 semapv:UnspecifiedMatching Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref OMIM:603471 semapv:UnspecifiedMatching Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref UMLS:C1863844 semapv:UnspecifiedMatching +Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref icd11:5C50.A3 semapv:UnspecifiedMatching +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref OMIM:605814 semapv:UnspecifiedMatching Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref UMLS:C1853942 semapv:UnspecifiedMatching +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref icd11:5C50.A3 semapv:UnspecifiedMatching +Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome oboInOwl:hasDbXref UMLS:C5679624 semapv:UnspecifiedMatching Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching @@ -10630,33 +12432,40 @@ Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref MESH:C5364 Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref OMIM:606353 semapv:UnspecifiedMatching Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref UMLS:C1853396 semapv:UnspecifiedMatching Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref MESH:C567107 semapv:UnspecifiedMatching Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref UMLS:C2673477 semapv:UnspecifiedMatching Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref UMLS:C5679616 semapv:UnspecifiedMatching Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref MESH:C562646 semapv:UnspecifiedMatching Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref UMLS:C0268412 semapv:UnspecifiedMatching Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref MESH:C562440 semapv:UnspecifiedMatching Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref OMIM:241510 semapv:UnspecifiedMatching Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref UMLS:C0220743 semapv:UnspecifiedMatching Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref MESH:C562647 semapv:UnspecifiedMatching Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref UMLS:C0268413 semapv:UnspecifiedMatching Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref MESH:C564146 semapv:UnspecifiedMatching Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref UMLS:C1840322 semapv:UnspecifiedMatching Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref MESH:C566007 semapv:UnspecifiedMatching Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref OMIM:192315 semapv:UnspecifiedMatching Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref UMLS:C1860518 semapv:UnspecifiedMatching @@ -10683,24 +12492,29 @@ Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162 Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS:C0025269 semapv:UnspecifiedMatching Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching Orphanet:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching +Orphanet:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching Orphanet:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref UMLS:C4707791 semapv:UnspecifiedMatching Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref UMLS:C4755301 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching +Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref MESH:D062689 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref UMLS:C1260965 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref icd11:2E80.1 semapv:UnspecifiedMatching Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref MESH:C567186 semapv:UnspecifiedMatching Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref MedDRA:10088125 semapv:UnspecifiedMatching Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref OMIM:158330 semapv:UnspecifiedMatching Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS:C2675014 semapv:UnspecifiedMatching Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref UMLS:C5566555 semapv:UnspecifiedMatching Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref icd11:LB44.Y semapv:UnspecifiedMatching Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref OMIM:615517 semapv:UnspecifiedMatching Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref UMLS:C1851316 semapv:UnspecifiedMatching Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -10711,6 +12525,8 @@ Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref MESH:C563924 semapv:UnspecifiedMatching Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching +Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:604004 semapv:UnspecifiedMatching @@ -10722,23 +12538,29 @@ Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:h Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C5679615 semapv:UnspecifiedMatching +Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref UMLS:C5679614 semapv:UnspecifiedMatching Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613573 semapv:UnspecifiedMatching Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C3150807 semapv:UnspecifiedMatching Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613576 semapv:UnspecifiedMatching Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C3150809 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref OMIM:613587 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref UMLS:C3150833 semapv:UnspecifiedMatching +Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref icd11:9B75.Y semapv:UnspecifiedMatching +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref MESH:C567090 semapv:UnspecifiedMatching Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref OMIM:611762 semapv:UnspecifiedMatching Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref UMLS:C2673198 semapv:UnspecifiedMatching +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref icd11:4A60.Y semapv:UnspecifiedMatching Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536143 semapv:UnspecifiedMatching @@ -10751,8 +12573,10 @@ Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasD Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:618535 semapv:UnspecifiedMatching Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0406702 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching Orphanet:248095 Primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010004 semapv:UnspecifiedMatching Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.4 semapv:UnspecifiedMatching Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.4 semapv:UnspecifiedMatching Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching @@ -10766,18 +12590,23 @@ Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref OMIM:249400 semapv Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref UMLS:C0544862 semapv:UnspecifiedMatching Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref icd11:2F20.20 semapv:UnspecifiedMatching Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref UMLS:C0751208 semapv:UnspecifiedMatching Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching +Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref MESH:C537238 semapv:UnspecifiedMatching Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref UMLS:C2931453 semapv:UnspecifiedMatching +Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:248293 Rare deficiency anemia oboInOwl:hasDbXref UMLS:C5680694 semapv:UnspecifiedMatching Orphanet:248296 Constitutional deficiency anemia oboInOwl:hasDbXref UMLS:C5680695 semapv:UnspecifiedMatching Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref ICD10:G51.2 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref ICD10:G51.2 semapv:UnspecifiedMatching Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MESH:D008556 semapv:UnspecifiedMatching Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MedDRA:10027166 semapv:UnspecifiedMatching Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref OMIM:155900 semapv:UnspecifiedMatching Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref UMLS:C0025235 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref icd11:8B88.Y semapv:UnspecifiedMatching Orphanet:248302 Rare acquired deficiency anemia oboInOwl:hasDbXref UMLS:C5680693 semapv:UnspecifiedMatching Orphanet:248308 Rare hemorrhagic disorder oboInOwl:hasDbXref UMLS:C5679621 semapv:UnspecifiedMatching Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect oboInOwl:hasDbXref UMLS:C5679620 semapv:UnspecifiedMatching @@ -10804,6 +12633,8 @@ Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 se Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref UMLS:C5680690 semapv:UnspecifiedMatching +Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref icd11:3B14.0 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:2485 Melorheostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:2485 Melorheostosis oboInOwl:hasDbXref MESH:D008557 semapv:UnspecifiedMatching Orphanet:2485 Melorheostosis oboInOwl:hasDbXref MedDRA:10050284 semapv:UnspecifiedMatching @@ -10811,6 +12642,7 @@ Orphanet:2485 Melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMa Orphanet:2485 Melorheostosis oboInOwl:hasDbXref UMLS:C0025239 semapv:UnspecifiedMatching Orphanet:2485 Melorheostosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref MESH:C535640 semapv:UnspecifiedMatching Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref UMLS:C2930962 semapv:UnspecifiedMatching Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -10818,15 +12650,18 @@ Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasD Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref OMIM:274205 semapv:UnspecifiedMatching Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref UMLS:C4274838 semapv:UnspecifiedMatching Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching +Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MESH:D005357 semapv:UnspecifiedMatching Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MedDRA:10016664 semapv:UnspecifiedMatching Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref UMLS:C0259779 semapv:UnspecifiedMatching +Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref icd11:FB80.0 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref OMIM:146160 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C5680722 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref MESH:C565436 semapv:UnspecifiedMatching Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref OMIM:246570 semapv:UnspecifiedMatching Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref UMLS:C1855499 semapv:UnspecifiedMatching @@ -10834,16 +12669,20 @@ Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref ICD10:K29.6 semapv:Unspecif Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref OMIM:137280 semapv:UnspecifiedMatching Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref UMLS:C0017155 semapv:UnspecifiedMatching +Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref icd11:DA42.6 semapv:UnspecifiedMatching Orphanet:2495 Meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching Orphanet:2495 Meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching Orphanet:2495 Meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching Orphanet:2495 Meningioma oboInOwl:hasDbXref MedDRA:10027191 semapv:UnspecifiedMatching Orphanet:2495 Meningioma oboInOwl:hasDbXref OMIM:606190 semapv:UnspecifiedMatching Orphanet:2495 Meningioma oboInOwl:hasDbXref UMLS:C0025286 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref icd11:2A01.0 semapv:UnspecifiedMatching +Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref MESH:C537348 semapv:UnspecifiedMatching Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref OMIM:600383 semapv:UnspecifiedMatching Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref UMLS:C1838162 semapv:UnspecifiedMatching +Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref OMIM:191440 semapv:UnspecifiedMatching @@ -10854,12 +12693,15 @@ Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref ICD10:Q70.0 semapv:Unspecifie Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref MESH:C564100 semapv:UnspecifiedMatching Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref UMLS:C1839728 semapv:UnspecifiedMatching +Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching +Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref MESH:C562938 semapv:UnspecifiedMatching Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref OMIM:156250 semapv:UnspecifiedMatching Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref UMLS:C0410530 semapv:UnspecifiedMatching Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536833 semapv:UnspecifiedMatching Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231670 semapv:UnspecifiedMatching Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268595 semapv:UnspecifiedMatching @@ -10871,18 +12713,25 @@ Orphanet:2500 Acrogeria oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatchin Orphanet:2500 Acrogeria oboInOwl:hasDbXref MESH:C538187 semapv:UnspecifiedMatching Orphanet:2500 Acrogeria oboInOwl:hasDbXref OMIM:201200 semapv:UnspecifiedMatching Orphanet:2500 Acrogeria oboInOwl:hasDbXref UMLS:C0238590 semapv:UnspecifiedMatching +Orphanet:2500 Acrogeria oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref MESH:C537353 semapv:UnspecifiedMatching Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref OMIM:250400 semapv:UnspecifiedMatching Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref UMLS:C0432225 semapv:UnspecifiedMatching +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:250165 Genetic polycythemia oboInOwl:hasDbXref UMLS:C5680689 semapv:UnspecifiedMatching Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref OMIM:250420 semapv:UnspecifiedMatching Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref UMLS:C4518775 semapv:UnspecifiedMatching +Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref UMLS:C5680723 semapv:UnspecifiedMatching +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching +Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref MESH:C537575 semapv:UnspecifiedMatching Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:156610 semapv:UnspecifiedMatching @@ -10899,13 +12748,17 @@ Orphanet:250805 Serpinopathy oboInOwl:hasDbXref UMLS:C5680704 semapv:Unspecified Orphanet:250808 Serpinopathy with toxic serpin polymerization oboInOwl:hasDbXref UMLS:C5680703 semapv:UnspecifiedMatching Orphanet:250811 Serpinopathy with loss of serpin function oboInOwl:hasDbXref UMLS:C5680705 semapv:UnspecifiedMatching Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref UMLS:C4274665 semapv:UnspecifiedMatching +Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching Orphanet:250908 Rare neoplastic disease oboInOwl:hasDbXref UMLS:C5679627 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617141 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617142 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref UMLS:C5680707 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref icd11:LA11.3 semapv:UnspecifiedMatching Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref UMLS:C4273829 semapv:UnspecifiedMatching @@ -10920,6 +12773,7 @@ Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref OMIM:608688 semapv:Unspecifi Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref UMLS:C1837530 semapv:UnspecifiedMatching Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:614134 semapv:UnspecifiedMatching Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:614284 semapv:UnspecifiedMatching Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:620022 semapv:UnspecifiedMatching @@ -10929,6 +12783,7 @@ Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 sem Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref MESH:C567291 semapv:UnspecifiedMatching Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:612474 semapv:UnspecifiedMatching Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2675897 semapv:UnspecifiedMatching +Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.10 semapv:UnspecifiedMatching Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref OMIM:612475 semapv:UnspecifiedMatching @@ -10938,6 +12793,7 @@ Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 se Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref OMIM:612530 semapv:UnspecifiedMatching Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4274528 semapv:UnspecifiedMatching +Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.10 semapv:UnspecifiedMatching Orphanet:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10028197 semapv:UnspecifiedMatching Orphanet:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C0026760 semapv:UnspecifiedMatching Orphanet:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching @@ -10948,6 +12804,7 @@ Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:614222 semapv:UnspecifiedMa Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:614225 semapv:UnspecifiedMatching Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:615663 semapv:UnspecifiedMatching Orphanet:2510 Micro syndrome oboInOwl:hasDbXref UMLS:C5442005 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref UMLS:C4707800 semapv:UnspecifiedMatching @@ -10959,10 +12816,12 @@ Orphanet:251009 Maternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref i Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4274647 semapv:UnspecifiedMatching +Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304531 semapv:UnspecifiedMatching +Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching @@ -10971,6 +12830,7 @@ Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 se Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref MESH:C567626 semapv:UnspecifiedMatching Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref OMIM:611936 semapv:UnspecifiedMatching Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref UMLS:C2749873 semapv:UnspecifiedMatching +Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.20 semapv:UnspecifiedMatching Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref UMLS:C4707450 semapv:UnspecifiedMatching @@ -10999,11 +12859,13 @@ Orphanet:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.81 s Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref UMLS:C4707330 semapv:UnspecifiedMatching +Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref icd11:LD41.71 semapv:UnspecifiedMatching Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref OMIM:268850 semapv:UnspecifiedMatching Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref UMLS:C4518461 semapv:UnspecifiedMatching Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref MESH:C579935 semapv:UnspecifiedMatching Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:251200 semapv:UnspecifiedMatching Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:603802 semapv:UnspecifiedMatching @@ -11037,10 +12899,12 @@ Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93. Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref MESH:C580095 semapv:UnspecifiedMatching Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref UMLS:C3665488 semapv:UnspecifiedMatching +Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref UMLS:C3838758 semapv:UnspecifiedMatching +Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref icd11:5A72.0 semapv:UnspecifiedMatching Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref OMIM:611040 semapv:UnspecifiedMatching @@ -11055,6 +12919,7 @@ Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref I Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref OMIM:153870 semapv:UnspecifiedMatching Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref UMLS:C4304667 semapv:UnspecifiedMatching +Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref icd11:9B75.Y semapv:UnspecifiedMatching Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref MESH:C566825 semapv:UnspecifiedMatching @@ -11076,16 +12941,20 @@ Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granuloma Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref UMLS:C4750785 semapv:UnspecifiedMatching Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref icd11:EB7Y semapv:UnspecifiedMatching Orphanet:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref ICD10:I09.2 semapv:UnspecifiedMatching +Orphanet:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref ICD10:I09.2 semapv:UnspecifiedMatching Orphanet:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref UMLS:C4707790 semapv:UnspecifiedMatching Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref UMLS:C1858556 semapv:UnspecifiedMatching Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching +Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref UMLS:C5680713 semapv:UnspecifiedMatching +Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref icd11:4A85.03 semapv:UnspecifiedMatching Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref UMLS:C5680712 semapv:UnspecifiedMatching Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref ICD10:R65.2 semapv:UnspecifiedMatching +Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref ICD10:R65.2 semapv:UnspecifiedMatching Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref UMLS:C5679630 semapv:UnspecifiedMatching Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching @@ -11130,9 +12999,11 @@ Orphanet:251383 CK syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMat Orphanet:251383 CK syndrome oboInOwl:hasDbXref OMIM:300831 semapv:UnspecifiedMatching Orphanet:251383 CK syndrome oboInOwl:hasDbXref UMLS:C3151781 semapv:UnspecifiedMatching Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0474889 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:156580 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:616311 semapv:UnspecifiedMatching @@ -11147,6 +13018,7 @@ Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref MESH:C5367 Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:251220 semapv:UnspecifiedMatching Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C1855080 semapv:UnspecifiedMatching Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:300018 semapv:UnspecifiedMatching Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching @@ -11155,12 +13027,14 @@ Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:615542 Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:616067 semapv:UnspecifiedMatching Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref UMLS:C4510744 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref icd11:LD2A.1 semapv:UnspecifiedMatching Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref MESH:C566069 semapv:UnspecifiedMatching Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref OMIM:187370 semapv:UnspecifiedMatching Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref UMLS:C1861238 semapv:UnspecifiedMatching Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref MESH:C565988 semapv:UnspecifiedMatching Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref OMIM:194470 semapv:UnspecifiedMatching Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref UMLS:C1860229 semapv:UnspecifiedMatching @@ -11169,12 +13043,14 @@ Orphanet:251529 Toxic or drug-related embryofetopathy oboInOwl:hasDbXref icd11:L Orphanet:251535 Maternal disease-related embryofetopathy oboInOwl:hasDbXref UMLS:C5680708 semapv:UnspecifiedMatching Orphanet:251558 Rare tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680709 semapv:UnspecifiedMatching Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref MESH:D018316 semapv:UnspecifiedMatching Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref MedDRA:10018340 semapv:UnspecifiedMatching Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref UMLS:C0206726 semapv:UnspecifiedMatching Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref icd11:2A00.00 semapv:UnspecifiedMatching Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref icd11:XH9RC8 semapv:UnspecifiedMatching Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref UMLS:C0334588 semapv:UnspecifiedMatching Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref icd11:2A00.00 semapv:UnspecifiedMatching Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref icd11:XH8UC5 semapv:UnspecifiedMatching @@ -11182,20 +13058,30 @@ Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref ICD10:C71.0 semapv:Unspec Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref ICD10:C71.0 semapv:UnspecifiedMatching Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref MedDRA:10066254 semapv:UnspecifiedMatching Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref UMLS:C0334576 semapv:UnspecifiedMatching +Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref icd11:XH6ZH4 semapv:UnspecifiedMatching Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref MedDRA:10002224 semapv:UnspecifiedMatching Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref UMLS:C0334579 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref icd11:XH39Z7 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref icd11:XH7HQ6 semapv:UnspecifiedMatching Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref icd11:XH96C7 semapv:UnspecifiedMatching Orphanet:251592 Low-grade astrocytoma oboInOwl:hasDbXref MedDRA:10065869 semapv:UnspecifiedMatching Orphanet:251592 Low-grade astrocytoma oboInOwl:hasDbXref UMLS:C1314694 semapv:UnspecifiedMatching Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref UMLS:C0280785 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH2C49 semapv:UnspecifiedMatching Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH2HK4 semapv:UnspecifiedMatching Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH6UY7 semapv:UnspecifiedMatching Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH8W32 semapv:UnspecifiedMatching Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref UMLS:C0334580 semapv:UnspecifiedMatching +Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref icd11:XH6UV4 semapv:UnspecifiedMatching Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -11203,99 +13089,151 @@ Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref OMIM:601355 semapv:UnspecifiedMatching Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref UMLS:C2931129 semapv:UnspecifiedMatching Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref MedDRA:10065889 semapv:UnspecifiedMatching Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref UMLS:C0334582 semapv:UnspecifiedMatching +Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref icd11:XH6C35 semapv:UnspecifiedMatching Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334581 semapv:UnspecifiedMatching +Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref icd11:XH5Y81 semapv:UnspecifiedMatching Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS:C0334586 semapv:UnspecifiedMatching +Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref icd11:XH99U2 semapv:UnspecifiedMatching Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334583 semapv:UnspecifiedMatching +Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref icd11:XH12D2 semapv:UnspecifiedMatching Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref UMLS:C1519086 semapv:UnspecifiedMatching +Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref icd11:XH29Q5 semapv:UnspecifiedMatching Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS:C0205768 semapv:UnspecifiedMatching +Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref icd11:XH1L48 semapv:UnspecifiedMatching Orphanet:251623 Pituicytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251623 Pituicytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251623 Pituicytoma oboInOwl:hasDbXref UMLS:C2986550 semapv:UnspecifiedMatching +Orphanet:251623 Pituicytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MedDRA:10030286 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref UMLS:C0028945 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref icd11:XH7K31 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref icd11:XH7W59 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref MedDRA:10026659 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref UMLS:C0334590 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref icd11:XH8844 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref icd11:XH9QF3 semapv:UnspecifiedMatching +Orphanet:251636 Ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching Orphanet:251636 Ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching Orphanet:251636 Ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching Orphanet:251636 Ependymoma oboInOwl:hasDbXref MedDRA:10014967 semapv:UnspecifiedMatching Orphanet:251636 Ependymoma oboInOwl:hasDbXref UMLS:C0014474 semapv:UnspecifiedMatching Orphanet:251639 Subependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching Orphanet:251639 Subependymoma oboInOwl:hasDbXref MESH:D018315 semapv:UnspecifiedMatching Orphanet:251639 Subependymoma oboInOwl:hasDbXref UMLS:C0206725 semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref icd11:2A00.5 semapv:UnspecifiedMatching Orphanet:251639 Subependymoma oboInOwl:hasDbXref icd11:XH8FZ9 semapv:UnspecifiedMatching Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref UMLS:C0205769 semapv:UnspecifiedMatching +Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref icd11:2A00.5 semapv:UnspecifiedMatching Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref icd11:XH15U1 semapv:UnspecifiedMatching Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref MedDRA:10014968 semapv:UnspecifiedMatching Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref UMLS:C0280788 semapv:UnspecifiedMatching +Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref icd11:XH6922 semapv:UnspecifiedMatching Orphanet:251651 Oligoastrocytic tumor oboInOwl:hasDbXref UMLS:C0280793 semapv:UnspecifiedMatching Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref MedDRA:10027744 semapv:UnspecifiedMatching Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref UMLS:C0547065 semapv:UnspecifiedMatching +Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref icd11:XH6F49 semapv:UnspecifiedMatching +Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref UMLS:C0431108 semapv:UnspecifiedMatching +Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching +Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref icd11:XH6F49 semapv:UnspecifiedMatching Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin oboInOwl:hasDbXref UMLS:C5680698 semapv:UnspecifiedMatching Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref MedDRA:10073129 semapv:UnspecifiedMatching Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref UMLS:C2363903 semapv:UnspecifiedMatching +Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251674 Chordoid glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251674 Chordoid glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251679 Astroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251679 Astroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251679 Astroblastoma oboInOwl:hasDbXref MedDRA:10079366 semapv:UnspecifiedMatching Orphanet:251679 Astroblastoma oboInOwl:hasDbXref UMLS:C0334587 semapv:UnspecifiedMatching +Orphanet:251679 Astroblastoma oboInOwl:hasDbXref icd11:2A00.4 semapv:UnspecifiedMatching Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:251270 semapv:UnspecifiedMatching Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:616335 semapv:UnspecifiedMatching Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4749272 semapv:UnspecifiedMatching +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref icd11:9B61 semapv:UnspecifiedMatching Orphanet:251852 Embryonal tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680699 semapv:UnspecifiedMatching Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref UMLS:C1334970 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref icd11:XH6JN6 semapv:UnspecifiedMatching Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS:C0751291 semapv:UnspecifiedMatching Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref icd11:XH7PN5 semapv:UnspecifiedMatching Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref UMLS:C1707400 semapv:UnspecifiedMatching Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:XH0RY1 semapv:UnspecifiedMatching Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:XH3EX1 semapv:UnspecifiedMatching Orphanet:251870 Central nervous system embryonal tumor oboInOwl:hasDbXref MedDRA:10057846 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MESH:D018305 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MedDRA:10017708 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C0206718 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref MedDRA:10014966 semapv:UnspecifiedMatching Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref UMLS:C0700367 semapv:UnspecifiedMatching Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching +Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref icd11:XH6922 semapv:UnspecifiedMatching +Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref UMLS:C5231013 semapv:UnspecifiedMatching Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching @@ -11303,39 +13241,48 @@ Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref MESH:D016545 semapv:Unsp Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref UMLS:C0085138 semapv:UnspecifiedMatching Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref ICD10:C71.7 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref ICD10:C71.7 semapv:UnspecifiedMatching Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref MESH:C562943 semapv:UnspecifiedMatching Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref MedDRA:10067478 semapv:UnspecifiedMatching Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref UMLS:C0431109 semapv:UnspecifiedMatching Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref icd11:XH3M77 semapv:UnspecifiedMatching Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref MESH:C537544 semapv:UnspecifiedMatching Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref UMLS:C4509817 semapv:UnspecifiedMatching Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching +Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C1266176 semapv:UnspecifiedMatching Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching Orphanet:251905 Pineal tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680702 semapv:UnspecifiedMatching Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref ICD10:C75.3 semapv:UnspecifiedMatching +Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref ICD10:C75.3 semapv:UnspecifiedMatching Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref MedDRA:10050487 semapv:UnspecifiedMatching Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref UMLS:C0205898 semapv:UnspecifiedMatching Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref icd11:XH1ZH1 semapv:UnspecifiedMatching Orphanet:251912 Pineocytoma oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251912 Pineocytoma oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251912 Pineocytoma oboInOwl:hasDbXref MedDRA:10035059 semapv:UnspecifiedMatching Orphanet:251912 Pineocytoma oboInOwl:hasDbXref UMLS:C0917890 semapv:UnspecifiedMatching Orphanet:251912 Pineocytoma oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251912 Pineocytoma oboInOwl:hasDbXref icd11:XH1K94 semapv:UnspecifiedMatching Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref UMLS:C2985219 semapv:UnspecifiedMatching Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref icd11:XH3904 semapv:UnspecifiedMatching Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref UMLS:C1367859 semapv:UnspecifiedMatching Orphanet:251924 Neuronal tumor oboInOwl:hasDbXref UMLS:C5680700 semapv:UnspecifiedMatching Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref UMLS:C2985175 semapv:UnspecifiedMatching Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching +Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref UMLS:C1370507 semapv:UnspecifiedMatching Orphanet:251934 Mixed neuronal-glial tumor oboInOwl:hasDbXref UMLS:C5680701 semapv:UnspecifiedMatching Orphanet:251934 Mixed neuronal-glial tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching @@ -11343,24 +13290,33 @@ Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedM Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref UMLS:C5190517 semapv:UnspecifiedMatching Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref icd11:XH6KA6 semapv:UnspecifiedMatching +Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref UMLS:C4757951 semapv:UnspecifiedMatching Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref UMLS:C1266177 semapv:UnspecifiedMatching Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref icd11:XH0H76 semapv:UnspecifiedMatching +Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref MESH:D018303 semapv:UnspecifiedMatching Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref MedDRA:10017701 semapv:UnspecifiedMatching Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref UMLS:C0206716 semapv:UnspecifiedMatching Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching +Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref UMLS:C0431112 semapv:UnspecifiedMatching Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref icd11:XH2GG3 semapv:UnspecifiedMatching Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref UMLS:C2985174 semapv:UnspecifiedMatching Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref icd11:XH3XU4 semapv:UnspecifiedMatching +Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref UMLS:C4331262 semapv:UnspecifiedMatching Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching @@ -11374,22 +13330,30 @@ Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref icd11:2A00.21 semapv:Unspecifi Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref icd11:XH03L9 semapv:UnspecifiedMatching Orphanet:251995 Primary germ cell tumor of central nervous system oboInOwl:hasDbXref UMLS:C5679625 semapv:UnspecifiedMatching Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1332876 semapv:UnspecifiedMatching +Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref MESH:D008577 semapv:UnspecifiedMatching Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref MedDRA:10061282 semapv:UnspecifiedMatching Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref UMLS:C0025284 semapv:UnspecifiedMatching Orphanet:252028 Primary melanocytic tumor of central nervous system oboInOwl:hasDbXref UMLS:C5679637 semapv:UnspecifiedMatching Orphanet:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching +Orphanet:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching Orphanet:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref UMLS:C4749348 semapv:UnspecifiedMatching Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref UMLS:C1266113 semapv:UnspecifiedMatching Orphanet:252050 Primary melanoma of the central nervous system oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching +Orphanet:252050 Primary melanoma of the central nervous system oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching +Orphanet:252050 Primary melanoma of the central nervous system oboInOwl:hasDbXref icd11:2A0Z semapv:UnspecifiedMatching Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.4 semapv:UnspecifiedMatching Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.4 semapv:UnspecifiedMatching Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.7 semapv:UnspecifiedMatching @@ -11410,21 +13374,27 @@ Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:Unspecif Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MESH:D009442 semapv:UnspecifiedMatching Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MedDRA:10029235 semapv:UnspecifiedMatching Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref UMLS:C0027809 semapv:UnspecifiedMatching +Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref icd11:2F3Y semapv:UnspecifiedMatching +Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref MESH:D009464 semapv:UnspecifiedMatching Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref UMLS:C0027859 semapv:UnspecifiedMatching +Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref icd11:2A02.3 semapv:UnspecifiedMatching Orphanet:252183 Neurofibroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:252183 Neurofibroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:252183 Neurofibroma oboInOwl:hasDbXref MESH:D009455 semapv:UnspecifiedMatching Orphanet:252183 Neurofibroma oboInOwl:hasDbXref MedDRA:10029267 semapv:UnspecifiedMatching Orphanet:252183 Neurofibroma oboInOwl:hasDbXref UMLS:C0027830 semapv:UnspecifiedMatching +Orphanet:252183 Neurofibroma oboInOwl:hasDbXref icd11:2F3Y semapv:UnspecifiedMatching Orphanet:252190 Inherited nervous system cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5680719 semapv:UnspecifiedMatching Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref MESH:C537325 semapv:UnspecifiedMatching Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref OMIM:251250 semapv:UnspecifiedMatching Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref UMLS:C0796066 semapv:UnspecifiedMatching +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:276300 semapv:UnspecifiedMatching Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619096 semapv:UnspecifiedMatching @@ -11432,14 +13402,18 @@ Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasD Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619101 semapv:UnspecifiedMatching Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref UMLS:C4321324 semapv:UnspecifiedMatching Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref ICD10:D43 semapv:UnspecifiedMatching +Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref ICD10:D43 semapv:UnspecifiedMatching Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref MESH:C536149 semapv:UnspecifiedMatching Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref OMIM:155755 semapv:UnspecifiedMatching Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS:C1835042 semapv:UnspecifiedMatching Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref UMLS:C0334616 semapv:UnspecifiedMatching +Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref icd11:XH2VV8 semapv:UnspecifiedMatching +Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref UMLS:C4749368 semapv:UnspecifiedMatching +Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref MESH:C548070 semapv:UnspecifiedMatching @@ -11460,6 +13434,7 @@ Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXr Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref MESH:C537536 semapv:UnspecifiedMatching Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref UMLS:C2931524 semapv:UnspecifiedMatching +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5679593 semapv:UnspecifiedMatching @@ -11469,6 +13444,7 @@ Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:ha Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537326 semapv:UnspecifiedMatching Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:156620 semapv:UnspecifiedMatching Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796062 semapv:UnspecifiedMatching +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref MESH:C537552 semapv:UnspecifiedMatching @@ -11492,6 +13468,7 @@ Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref O Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:615113 semapv:UnspecifiedMatching Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5679828 semapv:UnspecifiedMatching Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:613641 semapv:UnspecifiedMatching Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref UMLS:C4750786 semapv:UnspecifiedMatching Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching @@ -11509,38 +13486,52 @@ Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref OMIM:61 Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749584 semapv:UnspecifiedMatching Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref OMIM:613723 semapv:UnspecifiedMatching Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref UMLS:C3150989 semapv:UnspecifiedMatching Orphanet:254367 Rare lichen planus oboInOwl:hasDbXref UMLS:C5679638 semapv:UnspecifiedMatching Orphanet:254370 Rare cutaneous lichen planus oboInOwl:hasDbXref UMLS:C5679641 semapv:UnspecifiedMatching Orphanet:254373 Rare mucosal lichen planus oboInOwl:hasDbXref UMLS:C5679642 semapv:UnspecifiedMatching Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref UMLS:C0023650 semapv:UnspecifiedMatching Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref UMLS:C0406365 semapv:UnspecifiedMatching Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching Orphanet:254411 Annular atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254411 Annular atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254411 Annular atrophic lichen planus oboInOwl:hasDbXref UMLS:C4304037 semapv:UnspecifiedMatching Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref UMLS:C0406363 semapv:UnspecifiedMatching Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref MedDRA:10056959 semapv:UnspecifiedMatching Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref UMLS:C0023647 semapv:UnspecifiedMatching Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref UMLS:C0406366 semapv:UnspecifiedMatching Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref MedDRA:10087934 semapv:UnspecifiedMatching Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref UMLS:C0406369 semapv:UnspecifiedMatching +Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref icd11:EB41.Y semapv:UnspecifiedMatching Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref UMLS:C4255374 semapv:UnspecifiedMatching +Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref icd11:EA91.2 semapv:UnspecifiedMatching +Orphanet:254504 Inhalational botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:254504 Inhalational botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:254504 Inhalational botulism oboInOwl:hasDbXref UMLS:C1443900 semapv:UnspecifiedMatching +Orphanet:254504 Inhalational botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching +Orphanet:254509 Iatrogenic botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:254509 Iatrogenic botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:254509 Iatrogenic botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching @@ -11580,11 +13571,14 @@ Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:618432 semapv Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref UMLS:C0678213 semapv:UnspecifiedMatching Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref icd11:JA02.0 semapv:UnspecifiedMatching Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching +Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref UMLS:C0334529 semapv:UnspecifiedMatching Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref icd11:JA02.1 semapv:UnspecifiedMatching Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching +Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS:C1266159 semapv:UnspecifiedMatching Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching +Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref icd11:XH8FW3 semapv:UnspecifiedMatching Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref MESH:C536513 semapv:UnspecifiedMatching @@ -11593,8 +13587,11 @@ Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXr Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref ICD10:R77.8 semapv:UnspecifiedMatching Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref UMLS:C4707880 semapv:UnspecifiedMatching Orphanet:254707 Faisalabad histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254707 Faisalabad histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254712 Familial sinus histiocytosis with massive lymphadenopathy oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:254712 Familial sinus histiocytosis with massive lymphadenopathy oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:254749 Tricarboxylic acid cycle disorder oboInOwl:hasDbXref UMLS:C5679646 semapv:UnspecifiedMatching Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies oboInOwl:hasDbXref UMLS:C5679644 semapv:UnspecifiedMatching Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA oboInOwl:hasDbXref UMLS:C5679643 semapv:UnspecifiedMatching @@ -11618,18 +13615,26 @@ Orphanet:254846 Isolated oxidative phosphorylation complex disorder oboInOwl:has Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref UMLS:C4274074 semapv:UnspecifiedMatching +Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4517289 semapv:UnspecifiedMatching +Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref MESH:C564017 semapv:UnspecifiedMatching Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref OMIM:551000 semapv:UnspecifiedMatching Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C1838876 semapv:UnspecifiedMatching +Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:500009 semapv:UnspecifiedMatching Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C5191317 semapv:UnspecifiedMatching +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form oboInOwl:hasDbXref MESH:C580039 semapv:UnspecifiedMatching Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form oboInOwl:hasDbXref UMLS:C3711385 semapv:UnspecifiedMatching Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref MESH:C563698 semapv:UnspecifiedMatching Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:609560 semapv:UnspecifiedMatching Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:618972 semapv:UnspecifiedMatching @@ -11642,10 +13647,13 @@ Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref OMIM:607 Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref UMLS:C1843852 semapv:UnspecifiedMatching Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref MESH:C564926 semapv:UnspecifiedMatching Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:258450 semapv:UnspecifiedMatching Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:617069 semapv:UnspecifiedMatching Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850303 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref icd11:9C82.0 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:157640 semapv:UnspecifiedMatching Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609283 semapv:UnspecifiedMatching @@ -11653,13 +13661,17 @@ Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:610131 semapv:UnspecifiedMatching Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:613077 semapv:UnspecifiedMatching Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C5231255 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref icd11:9C82.0 semapv:UnspecifiedMatching Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref OMIM:614651 semapv:UnspecifiedMatching Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref UMLS:C4706538 semapv:UnspecifiedMatching +Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref icd11:5C53.22 semapv:UnspecifiedMatching +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref OMIM:141400 semapv:UnspecifiedMatching Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref UMLS:C0220681 semapv:UnspecifiedMatching +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching @@ -11695,46 +13707,61 @@ Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:616045 Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618120 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618683 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref UMLS:C4757950 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref icd11:5C53.25 semapv:UnspecifiedMatching Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref MESH:C566468 semapv:UnspecifiedMatching Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref OMIM:610498 semapv:UnspecifiedMatching Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref UMLS:C1864843 semapv:UnspecifiedMatching +Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref MESH:C565690 semapv:UnspecifiedMatching Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref OMIM:610678 semapv:UnspecifiedMatching Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref UMLS:C1857682 semapv:UnspecifiedMatching +Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref OMIM:613559 semapv:UnspecifiedMatching Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref UMLS:C3150801 semapv:UnspecifiedMatching +Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref MESH:C538007 semapv:UnspecifiedMatching Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref MedDRA:10080034 semapv:UnspecifiedMatching Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C1851920 semapv:UnspecifiedMatching +Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref icd11:8A02.11 semapv:UnspecifiedMatching +Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:157151 semapv:UnspecifiedMatching Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4510377 semapv:UnspecifiedMatching Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:616860 semapv:UnspecifiedMatching Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref UMLS:C4304054 semapv:UnspecifiedMatching +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref icd11:3A72.00 semapv:UnspecifiedMatching +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref MESH:C566729 semapv:UnspecifiedMatching Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref UMLS:C3279841 semapv:UnspecifiedMatching +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref MESH:C565447 semapv:UnspecifiedMatching Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref UMLS:C1855553 semapv:UnspecifiedMatching +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching +Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref ICD10:B60.8 semapv:UnspecifiedMatching Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref ICD10:B60.8 semapv:UnspecifiedMatching Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref MESH:D016881 semapv:UnspecifiedMatching Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref MedDRA:10053982 semapv:UnspecifiedMatching Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref UMLS:C0085407 semapv:UnspecifiedMatching +Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref icd11:1F58 semapv:UnspecifiedMatching Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref MESH:C536035 semapv:UnspecifiedMatching Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref UMLS:C2931092 semapv:UnspecifiedMatching +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref MESH:C538344 semapv:UnspecifiedMatching @@ -11768,11 +13795,14 @@ Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:61824 Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618248 semapv:UnspecifiedMatching Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618249 semapv:UnspecifiedMatching Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref UMLS:C5679635 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:607426 semapv:UnspecifiedMatching Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:614652 semapv:UnspecifiedMatching Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref UMLS:C5190833 semapv:UnspecifiedMatching +Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MESH:C538012 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MedDRA:10070612 semapv:UnspecifiedMatching @@ -11784,12 +13814,15 @@ Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613805 Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:616835 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:617063 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref UMLS:C1868684 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref icd11:LD24.JY semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref MESH:C537466 semapv:UnspecifiedMatching Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:300887 semapv:UnspecifiedMatching Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:300952 semapv:UnspecifiedMatching Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:309801 semapv:UnspecifiedMatching Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref UMLS:C0796070 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref MESH:C537444 semapv:UnspecifiedMatching @@ -11806,6 +13839,7 @@ Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref UMLS:C3888090 semapv:UnspecifiedMatching Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4510410 semapv:UnspecifiedMatching Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching @@ -11813,18 +13847,23 @@ Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref ME Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref OMIM:200970 semapv:UnspecifiedMatching Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref UMLS:C1860167 semapv:UnspecifiedMatching Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref MESH:C535812 semapv:UnspecifiedMatching Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref OMIM:157980 semapv:UnspecifiedMatching Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref UMLS:C1834759 semapv:UnspecifiedMatching +Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref MESH:C566066 semapv:UnspecifiedMatching Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref OMIM:187510 semapv:UnspecifiedMatching Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref UMLS:C1861233 semapv:UnspecifiedMatching Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref MESH:C535914 semapv:UnspecifiedMatching Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref OMIM:301940 semapv:UnspecifiedMatching Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS:C2931060 semapv:UnspecifiedMatching Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref ICD10:B27.0 semapv:UnspecifiedMatching +Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref ICD10:B27.0 semapv:UnspecifiedMatching Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref OMIM:226990 semapv:UnspecifiedMatching Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref UMLS:C4751209 semapv:UnspecifiedMatching Orphanet:2569 Moore-Federman syndrome oboInOwl:hasDbXref OMIM:127200 semapv:UnspecifiedMatching @@ -11835,9 +13874,11 @@ Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasD Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref UMLS:C2931072 semapv:UnspecifiedMatching Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref OMIM:306990 semapv:UnspecifiedMatching Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref UMLS:C4274798 semapv:UnspecifiedMatching Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref MESH:C536743 semapv:UnspecifiedMatching Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref OMIM:300076 semapv:UnspecifiedMatching Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref UMLS:C1848144 semapv:UnspecifiedMatching @@ -11859,6 +13900,7 @@ Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:614042 semapv:Unspecified Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref UMLS:C0026654 semapv:UnspecifiedMatching Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref icd11:8B22.B semapv:UnspecifiedMatching Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref MESH:C537052 semapv:UnspecifiedMatching Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref OMIM:203600 semapv:UnspecifiedMatching Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref UMLS:C0265328 semapv:UnspecifiedMatching @@ -11868,6 +13910,7 @@ Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:h Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:219721 semapv:UnspecifiedMatching Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C2931402 semapv:UnspecifiedMatching Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref MESH:D050336 semapv:UnspecifiedMatching Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref OMIM:253250 semapv:UnspecifiedMatching Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref UMLS:C0524582 semapv:UnspecifiedMatching @@ -11876,21 +13919,26 @@ Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref UMLS:C4305568 semapv:UnspecifiedMatching +Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.14 semapv:UnspecifiedMatching Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref MESH:C538193 semapv:UnspecifiedMatching Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref OMIM:158500 semapv:UnspecifiedMatching Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C2931765 semapv:UnspecifiedMatching Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref MESH:C537384 semapv:UnspecifiedMatching Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:607855 semapv:UnspecifiedMatching Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:618138 semapv:UnspecifiedMatching Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1263858 semapv:UnspecifiedMatching Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MESH:D016603 semapv:UnspecifiedMatching Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MedDRA:10014952 semapv:UnspecifiedMatching Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref UMLS:C5680853 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.1 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.1 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.9 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.9 semapv:UnspecifiedMatching @@ -11899,6 +13947,7 @@ Orphanet:2583 Mycetoma oboInOwl:hasDbXref MedDRA:10028427 semapv:UnspecifiedMatc Orphanet:2583 Mycetoma oboInOwl:hasDbXref UMLS:C0024449 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref icd11:1C43 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref icd11:1F29 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref icd11:1G60.0 semapv:UnspecifiedMatching Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref OMIM:254400 semapv:UnspecifiedMatching @@ -11924,6 +13973,7 @@ Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref I Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:159800 semapv:UnspecifiedMatching Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C4518566 semapv:UnspecifiedMatching +Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref MESH:C537563 semapv:UnspecifiedMatching @@ -11937,22 +13987,28 @@ Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:615293 semapv:Un Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref UMLS:C0432284 semapv:UnspecifiedMatching Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref icd11:2F7C semapv:UnspecifiedMatching Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:160565 semapv:UnspecifiedMatching Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:615883 semapv:UnspecifiedMatching Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref UMLS:C0410207 semapv:UnspecifiedMatching Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref OMIM:500002 semapv:UnspecifiedMatching Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref UMLS:C5191051 semapv:UnspecifiedMatching +Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref OMIM:132090 semapv:UnspecifiedMatching Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref UMLS:C1851549 semapv:UnspecifiedMatching Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref MESH:C537476 semapv:UnspecifiedMatching Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref OMIM:251950 semapv:UnspecifiedMatching Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref UMLS:C4518539 semapv:UnspecifiedMatching Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref MESH:C536101 semapv:UnspecifiedMatching Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:500011 semapv:UnspecifiedMatching Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:600462 semapv:UnspecifiedMatching @@ -11964,6 +14020,7 @@ Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref ICD Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref MESH:C564093 semapv:UnspecifiedMatching Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref OMIM:310440 semapv:UnspecifiedMatching Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref UMLS:C1839615 semapv:UnspecifiedMatching +Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref icd11:4A41.21 semapv:UnspecifiedMatching Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref MESH:C537359 semapv:UnspecifiedMatching @@ -11974,19 +14031,24 @@ Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:6 Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref UMLS:C1848561 semapv:UnspecifiedMatching Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:205950 semapv:UnspecifiedMatching Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref UMLS:C4274077 semapv:UnspecifiedMatching +Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref icd11:3A72.00 semapv:UnspecifiedMatching Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref ICD10:K56.0 semapv:UnspecifiedMatching Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref ICD10:K56.0 semapv:UnspecifiedMatching Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref MESH:C562574 semapv:UnspecifiedMatching Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:155310 semapv:UnspecifiedMatching Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:619350 semapv:UnspecifiedMatching Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref UMLS:C0266833 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref icd11:DA90.2 semapv:UnspecifiedMatching Orphanet:2608 N syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2608 N syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2608 N syndrome oboInOwl:hasDbXref MESH:C536108 semapv:UnspecifiedMatching Orphanet:2608 N syndrome oboInOwl:hasDbXref OMIM:310465 semapv:UnspecifiedMatching Orphanet:2608 N syndrome oboInOwl:hasDbXref UMLS:C2936859 semapv:UnspecifiedMatching +Orphanet:2608 N syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching @@ -12021,6 +14083,7 @@ Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:620135 semap Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref UMLS:C1838979 semapv:UnspecifiedMatching Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MedDRA:10081544 semapv:UnspecifiedMatching Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching @@ -12031,6 +14094,8 @@ Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 se Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410189 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref icd11:8C70.2 semapv:UnspecifiedMatching +Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 semapv:UnspecifiedMatching Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref UMLS:C4721859 semapv:UnspecifiedMatching @@ -12040,6 +14105,7 @@ Orphanet:2611 Linear verrucous nevus syndrome oboInOwl:hasDbXref UMLS:C5679838 s Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref UMLS:C4750782 semapv:UnspecifiedMatching +Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.60 semapv:UnspecifiedMatching Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref MESH:C538024 semapv:UnspecifiedMatching @@ -12070,9 +14136,11 @@ Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM: Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4273657 semapv:UnspecifiedMatching Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref MESH:D054000 semapv:UnspecifiedMatching Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref OMIM:163200 semapv:UnspecifiedMatching Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref UMLS:C4552097 semapv:UnspecifiedMatching +Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4518821 semapv:UnspecifiedMatching @@ -12097,6 +14165,7 @@ Orphanet:261236 16p13.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G1 Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304595 semapv:UnspecifiedMatching +Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.F1 semapv:UnspecifiedMatching Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304594 semapv:UnspecifiedMatching @@ -12114,6 +14183,7 @@ Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 s Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref OMIM:614526 semapv:UnspecifiedMatching Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref UMLS:C3281137 semapv:UnspecifiedMatching +Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613355 semapv:UnspecifiedMatching @@ -12148,6 +14218,7 @@ Orphanet:261318 Trisomy 20p oboInOwl:hasDbXref icd11:LD41.K1 semapv:UnspecifiedM Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5192593 semapv:UnspecifiedMatching +Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.M semapv:UnspecifiedMatching Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:611867 semapv:UnspecifiedMatching @@ -12156,6 +14227,7 @@ Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:L Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4706942 semapv:UnspecifiedMatching +Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.M semapv:UnspecifiedMatching Orphanet:261344 Trisomy 1q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:261344 Trisomy 1q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching Orphanet:261344 Trisomy 1q oboInOwl:hasDbXref UMLS:C4708596 semapv:UnspecifiedMatching @@ -12163,9 +14235,12 @@ Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:612513 semapv:UnspecifiedMatching Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304538 semapv:UnspecifiedMatching +Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.21 semapv:UnspecifiedMatching Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref ICD10:L95.8 semapv:UnspecifiedMatching Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref ICD10:L95.8 semapv:UnspecifiedMatching Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref UMLS:C0751547 semapv:UnspecifiedMatching +Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref icd11:4A44.Y semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:UnspecifiedMatching Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref MedDRA:10063431 semapv:UnspecifiedMatching @@ -12180,6 +14255,7 @@ Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 se Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref OMIM:300869 semapv:UnspecifiedMatching Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref UMLS:C5679678 semapv:UnspecifiedMatching +Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref MedDRA:10079365 semapv:UnspecifiedMatching @@ -12198,21 +14274,27 @@ Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref I Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref UMLS:C5191049 semapv:UnspecifiedMatching Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching Orphanet:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching Orphanet:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref UMLS:C4706450 semapv:UnspecifiedMatching +Orphanet:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref icd11:LD53 semapv:UnspecifiedMatching Orphanet:261534 49,XXXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching Orphanet:261534 49,XXXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching Orphanet:261534 49,XXXYY syndrome oboInOwl:hasDbXref UMLS:C4749586 semapv:UnspecifiedMatching Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref UMLS:C5437617 semapv:UnspecifiedMatching Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref UMLS:C5679681 semapv:UnspecifiedMatching Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref UMLS:C5548205 semapv:UnspecifiedMatching +Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2616 3M syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2616 3M syndrome oboInOwl:hasDbXref MESH:C535314 semapv:UnspecifiedMatching Orphanet:2616 3M syndrome oboInOwl:hasDbXref MedDRA:10081775 semapv:UnspecifiedMatching @@ -12225,13 +14307,16 @@ Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref UMLS:C5679679 semapv:UnspecifiedMatching +Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref icd11:LB20.0Y semapv:UnspecifiedMatching Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref UMLS:C5679680 semapv:UnspecifiedMatching +Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref icd11:LB20.0Y semapv:UnspecifiedMatching Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching +Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref icd11:LB20.0Y semapv:UnspecifiedMatching Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching @@ -12249,6 +14334,7 @@ Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref OM Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5680724 semapv:UnspecifiedMatching Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref MESH:C535448 semapv:UnspecifiedMatching Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref OMIM:210700 semapv:UnspecifiedMatching Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref UMLS:C1859468 semapv:UnspecifiedMatching @@ -12264,6 +14350,7 @@ Orphanet:261806 Partial deletion of chromosome 9 oboInOwl:hasDbXref UMLS:C567965 Orphanet:261811 Partial deletion of chromosome 10 oboInOwl:hasDbXref UMLS:C5679658 semapv:UnspecifiedMatching Orphanet:261816 Partial deletion of chromosome 11 oboInOwl:hasDbXref UMLS:C5679659 semapv:UnspecifiedMatching Orphanet:261821 Partial deletion of the long arm of chromosome 12 oboInOwl:hasDbXref UMLS:C5679656 semapv:UnspecifiedMatching +Orphanet:261821 Partial deletion of the long arm of chromosome 12 oboInOwl:hasDbXref icd11:LD44.C0 semapv:UnspecifiedMatching Orphanet:261826 Partial deletion of chromosome 16 oboInOwl:hasDbXref UMLS:C5679657 semapv:UnspecifiedMatching Orphanet:261831 Partial deletion of chromosome 17 oboInOwl:hasDbXref UMLS:C5679661 semapv:UnspecifiedMatching Orphanet:261836 Partial deletion of chromosome 18 oboInOwl:hasDbXref UMLS:C5679660 semapv:UnspecifiedMatching @@ -12271,9 +14358,14 @@ Orphanet:261841 Partial deletion of chromosome 19 oboInOwl:hasDbXref UMLS:C56796 Orphanet:261846 Partial deletion of chromosome 20 oboInOwl:hasDbXref UMLS:C5679662 semapv:UnspecifiedMatching Orphanet:261857 Partial deletion of the short arm of chromosome 1 oboInOwl:hasDbXref MESH:C535591 semapv:UnspecifiedMatching Orphanet:261857 Partial deletion of the short arm of chromosome 1 oboInOwl:hasDbXref UMLS:C0795796 semapv:UnspecifiedMatching +Orphanet:261857 Partial deletion of the short arm of chromosome 1 oboInOwl:hasDbXref icd11:LD44.11 semapv:UnspecifiedMatching Orphanet:261866 Partial deletion of the short arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679664 semapv:UnspecifiedMatching +Orphanet:261866 Partial deletion of the short arm of chromosome 2 oboInOwl:hasDbXref icd11:LD44.21 semapv:UnspecifiedMatching Orphanet:261875 Partial deletion of the short arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679666 semapv:UnspecifiedMatching +Orphanet:261875 Partial deletion of the short arm of chromosome 3 oboInOwl:hasDbXref icd11:LD44.31 semapv:UnspecifiedMatching Orphanet:261884 Partial deletion of the short arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679665 semapv:UnspecifiedMatching +Orphanet:261884 Partial deletion of the short arm of chromosome 4 oboInOwl:hasDbXref icd11:LD44.41 semapv:UnspecifiedMatching +Orphanet:261893 Partial deletion of the short arm of chromosome 5 oboInOwl:hasDbXref icd11:LD44.51 semapv:UnspecifiedMatching Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref MESH:C537086 semapv:UnspecifiedMatching @@ -12291,7 +14383,9 @@ Orphanet:261929 Partial deletion of the short arm of chromosome 9 oboInOwl:hasDb Orphanet:261929 Partial deletion of the short arm of chromosome 9 oboInOwl:hasDbXref icd11:LD44.91 semapv:UnspecifiedMatching Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref MESH:C538288 semapv:UnspecifiedMatching Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795836 semapv:UnspecifiedMatching +Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref icd11:LD44.A1 semapv:UnspecifiedMatching Orphanet:261947 Partial deletion of the short arm of chromosome 11 oboInOwl:hasDbXref MESH:C538295 semapv:UnspecifiedMatching +Orphanet:261947 Partial deletion of the short arm of chromosome 11 oboInOwl:hasDbXref icd11:LD44.B1 semapv:UnspecifiedMatching Orphanet:261956 Partial deletion of the short arm of chromosome 16 oboInOwl:hasDbXref UMLS:C5679670 semapv:UnspecifiedMatching Orphanet:261956 Partial deletion of the short arm of chromosome 16 oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching Orphanet:261965 Partial deletion of the short arm of chromosome 17 oboInOwl:hasDbXref icd11:LD44.H1 semapv:UnspecifiedMatching @@ -12301,11 +14395,15 @@ Orphanet:261983 Partial deletion of the short arm of chromosome 19 oboInOwl:hasD Orphanet:261992 Partial deletion of the short arm of chromosome 20 oboInOwl:hasDbXref icd11:LD44.L1 semapv:UnspecifiedMatching Orphanet:262 Duchenne and Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C3542021 semapv:UnspecifiedMatching Orphanet:262001 Partial deletion of the long arm of chromosome 1 oboInOwl:hasDbXref UMLS:C5679674 semapv:UnspecifiedMatching +Orphanet:262001 Partial deletion of the long arm of chromosome 1 oboInOwl:hasDbXref icd11:LD44.10 semapv:UnspecifiedMatching Orphanet:262010 Partial deletion of the long arm of chromosome 2 oboInOwl:hasDbXref MESH:C538315 semapv:UnspecifiedMatching Orphanet:262010 Partial deletion of the long arm of chromosome 2 oboInOwl:hasDbXref UMLS:C0795804 semapv:UnspecifiedMatching +Orphanet:262010 Partial deletion of the long arm of chromosome 2 oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching Orphanet:262019 Partial deletion of the long arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679675 semapv:UnspecifiedMatching +Orphanet:262019 Partial deletion of the long arm of chromosome 3 oboInOwl:hasDbXref icd11:LD44.30 semapv:UnspecifiedMatching Orphanet:262029 Partial deletion of the long arm of chromosome 4 oboInOwl:hasDbXref MESH:C537639 semapv:UnspecifiedMatching Orphanet:262029 Partial deletion of the long arm of chromosome 4 oboInOwl:hasDbXref UMLS:C0265404 semapv:UnspecifiedMatching +Orphanet:262029 Partial deletion of the long arm of chromosome 4 oboInOwl:hasDbXref icd11:LD44.40 semapv:UnspecifiedMatching Orphanet:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref MESH:C535323 semapv:UnspecifiedMatching Orphanet:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref UMLS:C0740302 semapv:UnspecifiedMatching Orphanet:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref icd11:LD44.50 semapv:UnspecifiedMatching @@ -12320,7 +14418,9 @@ Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbX Orphanet:262074 Partial deletion of the long arm of chromosome 9 oboInOwl:hasDbXref icd11:LD44.90 semapv:UnspecifiedMatching Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref MESH:C538289 semapv:UnspecifiedMatching Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795839 semapv:UnspecifiedMatching +Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref icd11:LD44.A0 semapv:UnspecifiedMatching Orphanet:262092 Partial deletion of the long arm of chromosome 11 oboInOwl:hasDbXref MESH:C538296 semapv:UnspecifiedMatching +Orphanet:262092 Partial deletion of the long arm of chromosome 11 oboInOwl:hasDbXref icd11:LD44.B0 semapv:UnspecifiedMatching Orphanet:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref MESH:C535484 semapv:UnspecifiedMatching Orphanet:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref UMLS:C0265451 semapv:UnspecifiedMatching Orphanet:262110 Partial deletion of the long arm of chromosome 14 oboInOwl:hasDbXref MESH:C538031 semapv:UnspecifiedMatching @@ -12335,45 +14435,70 @@ Orphanet:262155 Partial deletion of the long arm of chromosome 19 oboInOwl:hasDb Orphanet:262164 Partial deletion of the long arm of chromosome 20 oboInOwl:hasDbXref UMLS:C5679730 semapv:UnspecifiedMatching Orphanet:262164 Partial deletion of the long arm of chromosome 20 oboInOwl:hasDbXref icd11:LD44.L0 semapv:UnspecifiedMatching Orphanet:262173 Partial deletion of the long arm of chromosome 21 oboInOwl:hasDbXref UMLS:C5679731 semapv:UnspecifiedMatching +Orphanet:262173 Partial deletion of the long arm of chromosome 21 oboInOwl:hasDbXref icd11:LD44.M semapv:UnspecifiedMatching Orphanet:262182 Partial deletion of the long arm of chromosome 22 oboInOwl:hasDbXref UMLS:C5679725 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref MedDRA:10063361 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:231050 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:614185 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:617809 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref UMLS:C3489726 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:262638 Partial duplication of chromosome 8 oboInOwl:hasDbXref MESH:C537941 semapv:UnspecifiedMatching +Orphanet:262653 Partial duplication of chromosome 11 oboInOwl:hasDbXref icd11:LD41.A semapv:UnspecifiedMatching Orphanet:262698 Partial duplication of the short arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679718 semapv:UnspecifiedMatching Orphanet:262698 Partial duplication of the short arm of chromosome 2 oboInOwl:hasDbXref icd11:LD41.11 semapv:UnspecifiedMatching Orphanet:262707 Partial duplication of the short arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679720 semapv:UnspecifiedMatching +Orphanet:262707 Partial duplication of the short arm of chromosome 3 oboInOwl:hasDbXref icd11:LD41.21 semapv:UnspecifiedMatching Orphanet:262716 Partial duplication of the short arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679719 semapv:UnspecifiedMatching +Orphanet:262716 Partial duplication of the short arm of chromosome 4 oboInOwl:hasDbXref icd11:LD41.31 semapv:UnspecifiedMatching Orphanet:262740 Partial duplication of the short arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679721 semapv:UnspecifiedMatching +Orphanet:262740 Partial duplication of the short arm of chromosome 6 oboInOwl:hasDbXref icd11:LD41.51 semapv:UnspecifiedMatching Orphanet:262749 Partial duplication of the short arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679713 semapv:UnspecifiedMatching +Orphanet:262749 Partial duplication of the short arm of chromosome 7 oboInOwl:hasDbXref icd11:LD41.61 semapv:UnspecifiedMatching +Orphanet:262758 Partial duplication of the short arm of chromosome 8 oboInOwl:hasDbXref icd11:LD41.71 semapv:UnspecifiedMatching Orphanet:262776 Partial duplication of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C5679712 semapv:UnspecifiedMatching Orphanet:262776 Partial duplication of the short arm of chromosome 10 oboInOwl:hasDbXref icd11:LD41.91 semapv:UnspecifiedMatching Orphanet:262785 Partial duplication of the short arm of chromosome 11 oboInOwl:hasDbXref UMLS:C5679716 semapv:UnspecifiedMatching +Orphanet:262794 Partial duplication of the short arm of chromosome 16 oboInOwl:hasDbXref icd11:LD41.F1 semapv:UnspecifiedMatching Orphanet:262803 Partial duplication of the short arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679714 semapv:UnspecifiedMatching +Orphanet:262803 Partial duplication of the short arm of chromosome 17 oboInOwl:hasDbXref icd11:LD41.G1 semapv:UnspecifiedMatching Orphanet:262833 Partial duplication of the long arm of chromosome 1 oboInOwl:hasDbXref icd11:LD41.00 semapv:UnspecifiedMatching Orphanet:262842 Partial duplication of the long arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679706 semapv:UnspecifiedMatching +Orphanet:262842 Partial duplication of the long arm of chromosome 2 oboInOwl:hasDbXref icd11:LD41.10 semapv:UnspecifiedMatching Orphanet:262851 Partial duplication of the long arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679707 semapv:UnspecifiedMatching +Orphanet:262851 Partial duplication of the long arm of chromosome 3 oboInOwl:hasDbXref icd11:LD41.20 semapv:UnspecifiedMatching Orphanet:262860 Partial duplication of the long arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679710 semapv:UnspecifiedMatching +Orphanet:262860 Partial duplication of the long arm of chromosome 4 oboInOwl:hasDbXref icd11:LD41.30 semapv:UnspecifiedMatching +Orphanet:262869 Partial duplication of the long arm of chromosome 5 oboInOwl:hasDbXref icd11:LD41.40 semapv:UnspecifiedMatching Orphanet:262878 Partial duplication of the long arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679708 semapv:UnspecifiedMatching +Orphanet:262878 Partial duplication of the long arm of chromosome 6 oboInOwl:hasDbXref icd11:LD41.50 semapv:UnspecifiedMatching Orphanet:262887 Partial duplication of the long arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679709 semapv:UnspecifiedMatching +Orphanet:262887 Partial duplication of the long arm of chromosome 7 oboInOwl:hasDbXref icd11:LD41.60 semapv:UnspecifiedMatching Orphanet:262896 Partial duplication of the long arm of chromosome 8 oboInOwl:hasDbXref UMLS:C5679703 semapv:UnspecifiedMatching +Orphanet:262896 Partial duplication of the long arm of chromosome 8 oboInOwl:hasDbXref icd11:LD41.70 semapv:UnspecifiedMatching +Orphanet:262905 Partial duplication of the long arm of chromosome 9 oboInOwl:hasDbXref icd11:LD41.81 semapv:UnspecifiedMatching Orphanet:262914 Partial duplication of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C5679701 semapv:UnspecifiedMatching Orphanet:262914 Partial duplication of the long arm of chromosome 10 oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching Orphanet:262923 Partial duplication of the long arm of chromosome 11 oboInOwl:hasDbXref UMLS:C5679700 semapv:UnspecifiedMatching Orphanet:262932 Partial duplication of the long arm of chromosome 13 oboInOwl:hasDbXref UMLS:C5679705 semapv:UnspecifiedMatching +Orphanet:262932 Partial duplication of the long arm of chromosome 13 oboInOwl:hasDbXref icd11:LD41.C semapv:UnspecifiedMatching Orphanet:262941 Partial duplication of the long arm of chromosome 14 oboInOwl:hasDbXref UMLS:C5679704 semapv:UnspecifiedMatching Orphanet:262941 Partial duplication of the long arm of chromosome 14 oboInOwl:hasDbXref icd11:LD41.D semapv:UnspecifiedMatching Orphanet:262950 Partial duplication of the long arm of chromosome 15 oboInOwl:hasDbXref icd11:LD41.E semapv:UnspecifiedMatching +Orphanet:262959 Partial duplication of the long arm of chromosome 16 oboInOwl:hasDbXref icd11:LD41.F0 semapv:UnspecifiedMatching Orphanet:262968 Partial duplication of the long arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679698 semapv:UnspecifiedMatching +Orphanet:262968 Partial duplication of the long arm of chromosome 17 oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching +Orphanet:262977 Partial duplication of the long arm of chromosome 18 oboInOwl:hasDbXref icd11:LD41.H1 semapv:UnspecifiedMatching Orphanet:262986 Partial duplication of the long arm of chromosome 19 oboInOwl:hasDbXref UMLS:C5679696 semapv:UnspecifiedMatching Orphanet:262986 Partial duplication of the long arm of chromosome 19 oboInOwl:hasDbXref icd11:LD41.J0 semapv:UnspecifiedMatching Orphanet:262995 Partial duplication of the long arm of chromosome 20 oboInOwl:hasDbXref icd11:LD41.K0 semapv:UnspecifiedMatching Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv:UnspecifiedMatching Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C0686353 semapv:UnspecifiedMatching +Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref icd11:8C70.4 semapv:UnspecifiedMatching Orphanet:263004 Partial duplication of the long arm of chromosome 22 oboInOwl:hasDbXref UMLS:C5679699 semapv:UnspecifiedMatching +Orphanet:263004 Partial duplication of the long arm of chromosome 22 oboInOwl:hasDbXref icd11:LD41.M semapv:UnspecifiedMatching Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref MESH:C535294 semapv:UnspecifiedMatching @@ -12381,11 +14506,13 @@ Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:ha Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref UMLS:C2930871 semapv:UnspecifiedMatching Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref MESH:C537267 semapv:UnspecifiedMatching Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref OMIM:249700 semapv:UnspecifiedMatching Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref UMLS:C0432230 semapv:UnspecifiedMatching Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref OMIM:613507 semapv:UnspecifiedMatching Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref UMLS:C4303568 semapv:UnspecifiedMatching Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching @@ -12396,27 +14523,41 @@ Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref OMIM:16340 Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref UMLS:C0432231 semapv:UnspecifiedMatching Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:263310 Thymoma type A oboInOwl:hasDbXref UMLS:C1266091 semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref icd11:2C27.2 semapv:UnspecifiedMatching Orphanet:263310 Thymoma type A oboInOwl:hasDbXref icd11:XH6WN9 semapv:UnspecifiedMatching Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:263317 Thymoma type B oboInOwl:hasDbXref UMLS:C1328042 semapv:UnspecifiedMatching +Orphanet:263317 Thymoma type B oboInOwl:hasDbXref icd11:2C27.2 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref UMLS:C1266092 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref icd11:2C27.2 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref icd11:XH0JH0 semapv:UnspecifiedMatching +Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching +Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C5680730 semapv:UnspecifiedMatching +Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching +Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:619082 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref UMLS:C4749856 semapv:UnspecifiedMatching +Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref icd11:9E1Y semapv:UnspecifiedMatching Orphanet:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref ICD10:I97.8 semapv:UnspecifiedMatching Orphanet:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref ICD10:I97.8 semapv:UnspecifiedMatching Orphanet:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref UMLS:C5680731 semapv:UnspecifiedMatching @@ -12431,17 +14572,22 @@ Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrop Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref UMLS:C5190692 semapv:UnspecifiedMatching Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref MedDRA:10002476 semapv:UnspecifiedMatching Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref UMLS:C0018923 semapv:UnspecifiedMatching Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref icd11:2B56 semapv:UnspecifiedMatching Orphanet:263417 Bartter syndrome with hypocalcemia oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:263417 Bartter syndrome with hypocalcemia oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref MESH:D009507 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref MedDRA:10051713 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref UMLS:C0027961 semapv:UnspecifiedMatching +Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref icd11:LC10 semapv:UnspecifiedMatching Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref UMLS:C0022283 semapv:UnspecifiedMatching +Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref icd11:LC10 semapv:UnspecifiedMatching Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref ICD10:C44.8 semapv:UnspecifiedMatching Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref ICD10:C44.8 semapv:UnspecifiedMatching Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref UMLS:C0406819 semapv:UnspecifiedMatching @@ -12455,16 +14601,19 @@ Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10: Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref OMIM:609968 semapv:UnspecifiedMatching Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref UMLS:C5679694 semapv:UnspecifiedMatching Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref OMIM:143095 semapv:UnspecifiedMatching Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref MedDRA:10017406 semapv:UnspecifiedMatching Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref UMLS:C0016782 semapv:UnspecifiedMatching +Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref icd11:9A96.1 semapv:UnspecifiedMatching Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref MESH:C538174 semapv:UnspecifiedMatching Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref UMLS:C0392610 semapv:UnspecifiedMatching +Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching @@ -12506,36 +14655,44 @@ Orphanet:263508 COG1-CDG oboInOwl:hasDbXref OMIM:611209 semapv:UnspecifiedMatchi Orphanet:263508 COG1-CDG oboInOwl:hasDbXref UMLS:C2931011 semapv:UnspecifiedMatching Orphanet:263508 COG1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref MESH:C567095 semapv:UnspecifiedMatching Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref UMLS:C2673257 semapv:UnspecifiedMatching +Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref OMIM:614212 semapv:UnspecifiedMatching Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref UMLS:C4706387 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref MESH:C536316 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref MedDRA:10078538 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref OMIM:609796 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref UMLS:C1853354 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref UMLS:C4305156 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:618084 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref UMLS:C5679692 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref UMLS:C5679693 semapv:UnspecifiedMatching Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref OMIM:210710 semapv:UnspecifiedMatching Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref OMIM:210730 semapv:UnspecifiedMatching Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref UMLS:C4319565 semapv:UnspecifiedMatching +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref OMIM:607174 semapv:UnspecifiedMatching @@ -12545,14 +14702,17 @@ Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref ICD10:K63.8 semapv:Unspec Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref UMLS:C4509932 semapv:UnspecifiedMatching Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref MESH:C565898 semapv:UnspecifiedMatching Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref OMIM:210720 semapv:UnspecifiedMatching Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref UMLS:C0432246 semapv:UnspecifiedMatching +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:263708 Complex chromosomal rearrangement oboInOwl:hasDbXref UMLS:C5680729 semapv:UnspecifiedMatching Orphanet:263717 X chromosome number anomaly with female phenotype oboInOwl:hasDbXref UMLS:C5680728 semapv:UnspecifiedMatching Orphanet:263720 X chromosome number anomaly with male phenotype oboInOwl:hasDbXref UMLS:C5680727 semapv:UnspecifiedMatching Orphanet:263723 Polysomy of X chromosome oboInOwl:hasDbXref UMLS:C5680726 semapv:UnspecifiedMatching Orphanet:263726 Partial deletion of chromosome X oboInOwl:hasDbXref UMLS:C5679690 semapv:UnspecifiedMatching +Orphanet:263746 Y chromosome number anomaly oboInOwl:hasDbXref icd11:LD52 semapv:UnspecifiedMatching Orphanet:263749 X and Y chromosomal anomaly oboInOwl:hasDbXref UMLS:C5680725 semapv:UnspecifiedMatching Orphanet:263756 Partial deletion of the long arm of chromosome X oboInOwl:hasDbXref UMLS:C5679688 semapv:UnspecifiedMatching Orphanet:263768 Partial duplication of chromosome X oboInOwl:hasDbXref UMLS:C5679687 semapv:UnspecifiedMatching @@ -12560,12 +14720,14 @@ Orphanet:263775 Partial duplication of the short arm of chromosome X oboInOwl:ha Orphanet:263783 Partial duplication of the long arm of chromosome X oboInOwl:hasDbXref UMLS:C5679685 semapv:UnspecifiedMatching Orphanet:263793 Uniparental disomy of chromosome X oboInOwl:hasDbXref UMLS:C5679684 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref MESH:C537931 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:228900 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1856738 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:159001 semapv:UnspecifiedMatching Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1834653 semapv:UnspecifiedMatching Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -12573,6 +14735,7 @@ Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 s Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.E semapv:UnspecifiedMatching Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref MESH:C537321 semapv:UnspecifiedMatching Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref OMIM:251190 semapv:UnspecifiedMatching Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref UMLS:C1855089 semapv:UnspecifiedMatching @@ -12584,24 +14747,29 @@ Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatc Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref MESH:C538019 semapv:UnspecifiedMatching Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref UMLS:C0795825 semapv:UnspecifiedMatching Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref MESH:C536050 semapv:UnspecifiedMatching Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref OMIM:166250 semapv:UnspecifiedMatching Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref UMLS:C0432283 semapv:UnspecifiedMatching Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:306000 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:613027 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C5575419 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:264656 Interstitial lung disease specific to childhood oboInOwl:hasDbXref UMLS:C5679752 semapv:UnspecifiedMatching Orphanet:264665 Primary interstitial lung disease specific to childhood oboInOwl:hasDbXref UMLS:C5679754 semapv:UnspecifiedMatching +Orphanet:264665 Primary interstitial lung disease specific to childhood oboInOwl:hasDbXref icd11:CB04 semapv:UnspecifiedMatching Orphanet:264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder oboInOwl:hasDbXref UMLS:C5679753 semapv:UnspecifiedMatching Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref MESH:C535832 semapv:UnspecifiedMatching Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 semapv:UnspecifiedMatching Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 semapv:UnspecifiedMatching @@ -12609,13 +14777,16 @@ Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref UML Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref icd11:CB04.31 semapv:UnspecifiedMatching Orphanet:264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder oboInOwl:hasDbXref UMLS:C5679755 semapv:UnspecifiedMatching Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref MESH:C535461 semapv:UnspecifiedMatching Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref MedDRA:10078770 semapv:UnspecifiedMatching Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref OMIM:603523 semapv:UnspecifiedMatching Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref UMLS:C0340014 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref icd11:CB04.1 semapv:UnspecifiedMatching Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref UMLS:C3873357 semapv:UnspecifiedMatching +Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref icd11:CB04.4 semapv:UnspecifiedMatching Orphanet:264694 Interstitial lung disease specific to infancy oboInOwl:hasDbXref UMLS:C5679737 semapv:UnspecifiedMatching Orphanet:264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease oboInOwl:hasDbXref UMLS:C5679738 semapv:UnspecifiedMatching Orphanet:264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease oboInOwl:hasDbXref UMLS:C5679739 semapv:UnspecifiedMatching @@ -12638,34 +14809,45 @@ Orphanet:264949 Secondary interstitial lung disease in childhood and adulthood a Orphanet:264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease oboInOwl:hasDbXref UMLS:C5679734 semapv:UnspecifiedMatching Orphanet:264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis oboInOwl:hasDbXref UMLS:C5679733 semapv:UnspecifiedMatching Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.2 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.2 semapv:UnspecifiedMatching Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.3 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.3 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.4 semapv:UnspecifiedMatching Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.4 semapv:UnspecifiedMatching Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref UMLS:C5680746 semapv:UnspecifiedMatching Orphanet:264984 Exposure-related interstitial lung disease oboInOwl:hasDbXref UMLS:C5680745 semapv:UnspecifiedMatching Orphanet:264992 Genetic interstitial lung disease oboInOwl:hasDbXref UMLS:C5679736 semapv:UnspecifiedMatching Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1832567 semapv:UnspecifiedMatching Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4302825 semapv:UnspecifiedMatching +Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref OMIM:272450 semapv:UnspecifiedMatching Orphanet:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref UMLS:C2931647 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref MESH:D013796 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref MedDRA:10049808 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:156830 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref UMLS:C0039743 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref icd11:LD24.02 semapv:UnspecifiedMatching +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MESH:C537115 semapv:UnspecifiedMatching Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref OMIM:151050 semapv:UnspecifiedMatching Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS:C0432269 semapv:UnspecifiedMatching Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:159000 semapv:UnspecifiedMatching Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref UMLS:C4304304 semapv:UnspecifiedMatching +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref icd11:8C70.40 semapv:UnspecifiedMatching Orphanet:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref MESH:C535725 semapv:UnspecifiedMatching Orphanet:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref OMIM:126950 semapv:UnspecifiedMatching Orphanet:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref UMLS:C1851996 semapv:UnspecifiedMatching @@ -12680,37 +14862,48 @@ Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref MESH:C538342 semapv:Unspecifi Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref OMIM:255990 semapv:UnspecifiedMatching Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref UMLS:C1850626 semapv:UnspecifiedMatching Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref ICD10:D41.0 semapv:UnspecifiedMatching +Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref ICD10:D41.0 semapv:UnspecifiedMatching Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MESH:D018201 semapv:UnspecifiedMatching Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MedDRA:10070665 semapv:UnspecifiedMatching Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1332965 semapv:UnspecifiedMatching +Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching +Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref UMLS:C4518090 semapv:UnspecifiedMatching +Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref icd11:GB83 semapv:UnspecifiedMatching Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref MESH:C536401 semapv:UnspecifiedMatching Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref OMIM:256120 semapv:UnspecifiedMatching Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref UMLS:C4518325 semapv:UnspecifiedMatching +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref MESH:C536402 semapv:UnspecifiedMatching Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref OMIM:256200 semapv:UnspecifiedMatching Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref UMLS:C4510366 semapv:UnspecifiedMatching +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref MESH:C535895 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:253600 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:618129 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref UMLS:C1869123 semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref MESH:C537185 semapv:UnspecifiedMatching Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref OMIM:609049 semapv:UnspecifiedMatching Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref UMLS:C1836876 semapv:UnspecifiedMatching +Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref icd11:GB41 semapv:UnspecifiedMatching Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref MESH:C536405 semapv:UnspecifiedMatching Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref OMIM:616038 semapv:UnspecifiedMatching Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref UMLS:C0265218 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching +Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref MESH:C536407 semapv:UnspecifiedMatching Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref OMIM:130950 semapv:UnspecifiedMatching @@ -12736,21 +14929,29 @@ Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:Uns Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MedDRA:10037138 semapv:UnspecifiedMatching Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref UMLS:C0033822 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054069 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268596 semapv:UnspecifiedMatching +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C537596 semapv:UnspecifiedMatching Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201470 semapv:UnspecifiedMatching +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536353 semapv:UnspecifiedMatching Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10072656 semapv:UnspecifiedMatching Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201475 semapv:UnspecifiedMatching Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3887523 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref MESH:C535899 semapv:UnspecifiedMatching Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref OMIM:253601 semapv:UnspecifiedMatching Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref UMLS:C1850889 semapv:UnspecifiedMatching +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:616286 semapv:UnspecifiedMatching @@ -12759,6 +14960,7 @@ Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbX Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:618186 semapv:UnspecifiedMatching Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref UMLS:C4707882 semapv:UnspecifiedMatching Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref OMIM:614470 semapv:UnspecifiedMatching Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref UMLS:C2674723 semapv:UnspecifiedMatching Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching @@ -12768,6 +14970,7 @@ Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref OMIM:182920 semapv:Uns Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref UMLS:C1866785 semapv:UnspecifiedMatching Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref ICD10:D31.4 semapv:UnspecifiedMatching +Orphanet:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref ICD10:D31.4 semapv:UnspecifiedMatching Orphanet:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref UMLS:C1883694 semapv:UnspecifiedMatching Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching @@ -12791,6 +14994,8 @@ Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref UMLS:C0751285 semapv:UnspecifiedMatching Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref UMLS:C4509879 semapv:UnspecifiedMatching Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching @@ -12798,6 +15003,8 @@ Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref UMLS:C5191008 semapv:UnspecifiedMatching +Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref icd11:LD44.M semapv:UnspecifiedMatching +Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref ICD10:Y84.1 semapv:UnspecifiedMatching Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref ICD10:Y84.1 semapv:UnspecifiedMatching Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref MedDRA:10070476 semapv:UnspecifiedMatching Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref UMLS:C0274417 semapv:UnspecifiedMatching @@ -12814,10 +15021,16 @@ Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:301410 semapv Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref UMLS:C5680742 semapv:UnspecifiedMatching Orphanet:268363 Open iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching +Orphanet:268363 Open iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching Orphanet:268363 Open iniencephaly oboInOwl:hasDbXref UMLS:C0431285 semapv:UnspecifiedMatching +Orphanet:268363 Open iniencephaly oboInOwl:hasDbXref icd11:LA00.1 semapv:UnspecifiedMatching +Orphanet:268366 Closed iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching Orphanet:268366 Closed iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching Orphanet:268366 Closed iniencephaly oboInOwl:hasDbXref UMLS:C0431286 semapv:UnspecifiedMatching +Orphanet:268366 Closed iniencephaly oboInOwl:hasDbXref icd11:LA00.1 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching @@ -12835,6 +15048,7 @@ Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:Uns Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref icd11:LA02.1 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching @@ -12843,10 +15057,12 @@ Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref OMIM:162800 semapv:Unspecifi Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref UMLS:C0221023 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching +Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref UMLS:C2930809 semapv:UnspecifiedMatching Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MESH:D016137 semapv:UnspecifiedMatching Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MedDRA:10071011 semapv:UnspecifiedMatching Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref UMLS:C0037917 semapv:UnspecifiedMatching +Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref icd11:LA02.0 semapv:UnspecifiedMatching Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref OMIM:607847 semapv:UnspecifiedMatching @@ -12869,22 +15085,31 @@ Orphanet:268813 Myelocystocele oboInOwl:hasDbXref icd11:LA02.02 semapv:Unspecifi Orphanet:268817 Cephalocele oboInOwl:hasDbXref ICD10:Q01 semapv:UnspecifiedMatching Orphanet:268817 Cephalocele oboInOwl:hasDbXref ICD10:Q01 semapv:UnspecifiedMatching Orphanet:268817 Cephalocele oboInOwl:hasDbXref UMLS:C0014065 semapv:UnspecifiedMatching +Orphanet:268817 Cephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref UMLS:C0009694 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching +Orphanet:268823 Occipital encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching Orphanet:268823 Occipital encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching Orphanet:268823 Occipital encephalocele oboInOwl:hasDbXref UMLS:C0014067 semapv:UnspecifiedMatching +Orphanet:268823 Occipital encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref UMLS:C0431294 semapv:UnspecifiedMatching +Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref UMLS:C4023176 semapv:UnspecifiedMatching +Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref UMLS:C1836022 semapv:UnspecifiedMatching @@ -12896,6 +15121,8 @@ Orphanet:268861 Primary tethered cord syndrome oboInOwl:hasDbXref icd11:LA07.0 s Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref UMLS:C0027806 semapv:UnspecifiedMatching +Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref icd11:LA07.Y semapv:UnspecifiedMatching +Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref ICD10:Q06.0 semapv:UnspecifiedMatching Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref ICD10:Q06.0 semapv:UnspecifiedMatching Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref UMLS:C0266510 semapv:UnspecifiedMatching Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref icd11:LA07.2 semapv:UnspecifiedMatching @@ -12904,6 +15131,7 @@ Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref ICD10:Q07.0 Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref MedDRA:10056944 semapv:UnspecifiedMatching Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref OMIM:118420 semapv:UnspecifiedMatching Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref UMLS:C0750929 semapv:UnspecifiedMatching +Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref icd11:LA07.4 semapv:UnspecifiedMatching Orphanet:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching @@ -12913,6 +15141,7 @@ Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref UMLS:C0221355 semapv: Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref icd11:LA05.1 semapv:UnspecifiedMatching Orphanet:268926 Midline cerebral malformation oboInOwl:hasDbXref UMLS:C5679771 semapv:UnspecifiedMatching Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref ICD10:Q04.1 semapv:UnspecifiedMatching +Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref ICD10:Q04.1 semapv:UnspecifiedMatching Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref UMLS:C4749732 semapv:UnspecifiedMatching Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref icd11:LA05.4 semapv:UnspecifiedMatching Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -12956,6 +15185,7 @@ Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref OMI Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref UMLS:C5679769 semapv:UnspecifiedMatching Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref MESH:D020391 semapv:UnspecifiedMatching Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref MedDRA:10064087 semapv:UnspecifiedMatching Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158900 semapv:UnspecifiedMatching @@ -12964,8 +15194,11 @@ Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:600416 semapv Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:619477 semapv:UnspecifiedMatching Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:619478 semapv:UnspecifiedMatching Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref UMLS:C0238288 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref icd11:8C70.3 semapv:UnspecifiedMatching +Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref UMLS:C4518430 semapv:UnspecifiedMatching +Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching @@ -12980,9 +15213,12 @@ Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref MESH:C536113 semapv:UnspecifiedMa Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref UMLS:C2936777 semapv:UnspecifiedMatching Orphanet:269190 Encephaloclastic disorder oboInOwl:hasDbXref UMLS:C5680772 semapv:UnspecifiedMatching +Orphanet:269190 Encephaloclastic disorder oboInOwl:hasDbXref icd11:LA05.6 semapv:UnspecifiedMatching Orphanet:269194 Central nervous system cystic malformation oboInOwl:hasDbXref UMLS:C5680777 semapv:UnspecifiedMatching Orphanet:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching +Orphanet:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching Orphanet:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref UMLS:C0338599 semapv:UnspecifiedMatching +Orphanet:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref icd11:LA05.7 semapv:UnspecifiedMatching Orphanet:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref UMLS:C5680776 semapv:UnspecifiedMatching @@ -12993,9 +15229,11 @@ Orphanet:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref I Orphanet:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref UMLS:C5680780 semapv:UnspecifiedMatching Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref UMLS:C5680779 semapv:UnspecifiedMatching Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref icd11:LA06.0 semapv:UnspecifiedMatching Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref UMLS:C5680778 semapv:UnspecifiedMatching Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref icd11:LA06.0 semapv:UnspecifiedMatching Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -13023,12 +15261,14 @@ Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref ICD10: Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref UMLS:C5679774 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref icd11:8D64.1 semapv:UnspecifiedMatching Orphanet:269523 Syndrome with a cerebellar malformation as a major feature oboInOwl:hasDbXref UMLS:C5680775 semapv:UnspecifiedMatching Orphanet:269528 Syndrome with microcephaly as a major feature oboInOwl:hasDbXref UMLS:C5680774 semapv:UnspecifiedMatching +Orphanet:269528 Syndrome with microcephaly as a major feature oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature oboInOwl:hasDbXref UMLS:C5680765 semapv:UnspecifiedMatching Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature oboInOwl:hasDbXref UMLS:C5680766 semapv:UnspecifiedMatching Orphanet:269550 Genetic non-syndromic central nervous system malformation oboInOwl:hasDbXref UMLS:C5680767 semapv:UnspecifiedMatching @@ -13045,10 +15285,13 @@ Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:has Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref OMIM:208085 semapv:UnspecifiedMatching Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref OMIM:613404 semapv:UnspecifiedMatching Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref UMLS:C4551984 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref icd11:5C58.0Y semapv:UnspecifiedMatching +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref MESH:C537210 semapv:UnspecifiedMatching Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:149200 semapv:UnspecifiedMatching Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref UMLS:C0266004 semapv:UnspecifiedMatching +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref OMIM:151630 semapv:UnspecifiedMatching @@ -13060,16 +15303,20 @@ Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref O Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref UMLS:C2931536 semapv:UnspecifiedMatching Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 semapv:UnspecifiedMatching Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MedDRA:10052181 semapv:UnspecifiedMatching Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 semapv:UnspecifiedMatching Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS:C0270952 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref icd11:9C82.1 semapv:UnspecifiedMatching +Orphanet:2700 Noma oboInOwl:hasDbXref ICD10:A69.0 semapv:UnspecifiedMatching Orphanet:2700 Noma oboInOwl:hasDbXref ICD10:A69.0 semapv:UnspecifiedMatching Orphanet:2700 Noma oboInOwl:hasDbXref MESH:D009625 semapv:UnspecifiedMatching Orphanet:2700 Noma oboInOwl:hasDbXref MedDRA:10029502 semapv:UnspecifiedMatching Orphanet:2700 Noma oboInOwl:hasDbXref UMLS:C0028271 semapv:UnspecifiedMatching Orphanet:2700 Noma oboInOwl:hasDbXref icd11:DA0C.31 semapv:UnspecifiedMatching Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref OMIM:607721 semapv:UnspecifiedMatching Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref OMIM:617506 semapv:UnspecifiedMatching Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref UMLS:C1843181 semapv:UnspecifiedMatching @@ -13078,6 +15325,7 @@ Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C5191040 semapv:UnspecifiedMatching Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:236730 semapv:UnspecifiedMatching Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:615112 semapv:UnspecifiedMatching @@ -13106,12 +15354,15 @@ Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 sem Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref UMLS:C1846265 semapv:UnspecifiedMatching +Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching +Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref MESH:C565893 semapv:UnspecifiedMatching Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref OMIM:211370 semapv:UnspecifiedMatching Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref UMLS:C1859385 semapv:UnspecifiedMatching Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref MESH:C564935 semapv:UnspecifiedMatching Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref OMIM:257910 semapv:UnspecifiedMatching Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref UMLS:C1850338 semapv:UnspecifiedMatching @@ -13142,14 +15393,17 @@ Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref UMLS:C5679761 sem Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching Orphanet:271870 Rare genetic systemic or rheumatologic disease oboInOwl:hasDbXref UMLS:C5680758 semapv:UnspecifiedMatching Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref OMIM:257800 semapv:UnspecifiedMatching Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref UMLS:C2936910 semapv:UnspecifiedMatching Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref UMLS:C0410174 semapv:UnspecifiedMatching Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref MESH:C537866 semapv:UnspecifiedMatching Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref OMIM:257790 semapv:UnspecifiedMatching Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref UMLS:C2931646 semapv:UnspecifiedMatching @@ -13187,9 +15441,12 @@ Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref MESH:C565736 semapv:Unspecifie Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref OMIM:604916 semapv:UnspecifiedMatching Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref MESH:C538008 semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C3250443 semapv:UnspecifiedMatching +Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching +Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref MESH:C566767 semapv:UnspecifiedMatching Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref OMIM:176240 semapv:UnspecifiedMatching @@ -13200,6 +15457,7 @@ Orphanet:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref U Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref UMLS:C4275113 semapv:UnspecifiedMatching +Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2733 Omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2733 Omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2733 Omodysplasia oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching @@ -13226,6 +15484,7 @@ Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MedDRA:10057473 semapv: Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:153670 semapv:UnspecifiedMatching Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:231200 semapv:UnspecifiedMatching Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS:C0005129 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref icd11:3B62.01 semapv:UnspecifiedMatching Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref MESH:C563501 semapv:UnspecifiedMatching @@ -13233,9 +15492,11 @@ Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref OMIM:164900 s Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref UMLS:C1833872 semapv:UnspecifiedMatching Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref ICD10:H51.2 semapv:UnspecifiedMatching +Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref ICD10:H51.2 semapv:UnspecifiedMatching Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref OMIM:165150 semapv:UnspecifiedMatching Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref UMLS:C5190740 semapv:UnspecifiedMatching Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:607313 semapv:UnspecifiedMatching Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:617542 semapv:UnspecifiedMatching Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref UMLS:C1846496 semapv:UnspecifiedMatching @@ -13248,6 +15509,7 @@ Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:Unspecified Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref MESH:C537122 semapv:UnspecifiedMatching Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref OMIM:258480 semapv:UnspecifiedMatching Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref UMLS:C0432219 semapv:UnspecifiedMatching +Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:2749 Oromandibular-limb hypogenesis syndrome oboInOwl:hasDbXref UMLS:C5679764 semapv:UnspecifiedMatching Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching @@ -13260,22 +15522,26 @@ Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 sem Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref MESH:C537134 semapv:UnspecifiedMatching Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311200 semapv:UnspecifiedMatching Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C1510460 semapv:UnspecifiedMatching +Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538585 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MedDRA:10078419 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref OMIM:252100 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C0026363 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref MESH:C557817 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref OMIM:258850 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref UMLS:C0406726 semapv:UnspecifiedMatching +Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref MESH:C537133 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref OMIM:258860 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref UMLS:C0406727 semapv:UnspecifiedMatching +Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref MESH:C536531 semapv:UnspecifiedMatching @@ -13286,11 +15552,13 @@ Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:615665 sem Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:617127 semapv:UnspecifiedMatching Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:618763 semapv:UnspecifiedMatching Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref UMLS:C2745997 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref MESH:C557820 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref OMIM:300484 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref UMLS:C0796101 semapv:UnspecifiedMatching +Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching @@ -13306,8 +15574,12 @@ Orphanet:275543 L1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMat Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:304100 semapv:UnspecifiedMatching Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.1 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.1 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.9 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.9 semapv:UnspecifiedMatching @@ -13319,6 +15591,7 @@ Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609403 semapv:UnspecifiedMa Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609404 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:614595 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref UMLS:C0032914 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24.0 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24.1 semapv:UnspecifiedMatching Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -13326,30 +15599,37 @@ Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 se Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref MESH:C563491 semapv:UnspecifiedMatching Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref OMIM:165590 semapv:UnspecifiedMatching Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref UMLS:C1833796 semapv:UnspecifiedMatching +Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia oboInOwl:hasDbXref UMLS:C5679757 semapv:UnspecifiedMatching Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect oboInOwl:hasDbXref UMLS:C5679758 semapv:UnspecifiedMatching Orphanet:275742 Genetic infertility oboInOwl:hasDbXref UMLS:C5680750 semapv:UnspecifiedMatching Orphanet:275745 Alpha-thalassemia and related disorders oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:275745 Alpha-thalassemia and related disorders oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:275745 Alpha-thalassemia and related disorders oboInOwl:hasDbXref UMLS:C5680751 semapv:UnspecifiedMatching Orphanet:275749 Beta-thalassemia and related diseases oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:275749 Beta-thalassemia and related diseases oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:275749 Beta-thalassemia and related diseases oboInOwl:hasDbXref UMLS:C5680748 semapv:UnspecifiedMatching Orphanet:275752 Sickle cell disease and related diseases oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching +Orphanet:275752 Sickle cell disease and related diseases oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching Orphanet:275752 Sickle cell disease and related diseases oboInOwl:hasDbXref UMLS:C5680749 semapv:UnspecifiedMatching Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref MedDRA:10077267 semapv:UnspecifiedMatching Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref UMLS:C5574740 semapv:UnspecifiedMatching +Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10065151 semapv:UnspecifiedMatching Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C3203102 semapv:UnspecifiedMatching +Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10085244 semapv:UnspecifiedMatching Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C0340543 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C0340544 semapv:UnspecifiedMatching Orphanet:275791 Pulmonary arterial hypertension associated with another disease oboInOwl:hasDbXref UMLS:C5679756 semapv:UnspecifiedMatching Orphanet:275798 Pulmonary arterial hypertension associated with connective tissue disease oboInOwl:hasDbXref UMLS:C3697982 semapv:UnspecifiedMatching @@ -13362,12 +15642,15 @@ Orphanet:275828 Pulmonary arterial hypertension associated with chronic hemolyti Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism oboInOwl:hasDbXref UMLS:C4509216 semapv:UnspecifiedMatching Orphanet:275853 Syndrome with pulmonary hypertension as a major feature oboInOwl:hasDbXref UMLS:C5680755 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:619132 semapv:UnspecifiedMatching Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref UMLS:C4011788 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref MESH:C566288 semapv:UnspecifiedMatching Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:105550 semapv:UnspecifiedMatching @@ -13380,6 +15663,8 @@ Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDb Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619141 semapv:UnspecifiedMatching Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref UMLS:C3888102 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching +Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C4749770 semapv:UnspecifiedMatching Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization oboInOwl:hasDbXref ICD10:P55.8 semapv:UnspecifiedMatching @@ -13398,6 +15683,7 @@ Orphanet:2760 OSLAM syndrome oboInOwl:hasDbXref UMLS:C1833792 semapv:Unspecified Orphanet:276058 Genetic neurodegenerative disease with dementia oboInOwl:hasDbXref UMLS:C5680753 semapv:UnspecifiedMatching Orphanet:276061 Genetic frontotemporal degeneration with dementia oboInOwl:hasDbXref UMLS:C5680752 semapv:UnspecifiedMatching Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref UMLS:C4274079 semapv:UnspecifiedMatching Orphanet:276142 Rare tumor of salivary glands oboInOwl:hasDbXref UMLS:C5680754 semapv:UnspecifiedMatching Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching @@ -13407,8 +15693,10 @@ Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.1 semapv:UnspecifiedMatching Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.1 semapv:UnspecifiedMatching Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref UMLS:C5190832 semapv:UnspecifiedMatching Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.7 semapv:UnspecifiedMatching Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.7 semapv:UnspecifiedMatching Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching @@ -13427,21 +15715,26 @@ Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref ICD10:D44.8 sema Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref MESH:D009377 semapv:UnspecifiedMatching Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref MedDRA:10061299 semapv:UnspecifiedMatching Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref UMLS:C0027662 semapv:UnspecifiedMatching +Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref icd11:2F7A.Y semapv:UnspecifiedMatching Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref UMLS:C4706562 semapv:UnspecifiedMatching +Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref icd11:8E2Y semapv:UnspecifiedMatching Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref OMIM:613909 semapv:UnspecifiedMatching Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref UMLS:C3151343 semapv:UnspecifiedMatching +Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref OMIM:613908 semapv:UnspecifiedMatching Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref UMLS:C3888031 semapv:UnspecifiedMatching +Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref OMIM:614153 semapv:UnspecifiedMatching Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref UMLS:C3472711 semapv:UnspecifiedMatching +Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref ICD10:M61.5 semapv:UnspecifiedMatching Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref ICD10:M61.5 semapv:UnspecifiedMatching Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref MESH:C562735 semapv:UnspecifiedMatching @@ -13450,10 +15743,12 @@ Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 se Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref UMLS:C0334041 semapv:UnspecifiedMatching Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref icd11:FB31.0 semapv:UnspecifiedMatching Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref UMLS:C5679781 semapv:UnspecifiedMatching Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref icd11:5C56.33 semapv:UnspecifiedMatching Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref UMLS:C5679780 semapv:UnspecifiedMatching Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref icd11:5C56.33 semapv:UnspecifiedMatching @@ -13481,18 +15776,24 @@ Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref ICD10:G11.8 sem Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref UMLS:C0751668 semapv:UnspecifiedMatching +Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref UMLS:C0751669 semapv:UnspecifiedMatching +Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref UMLS:C0751670 semapv:UnspecifiedMatching +Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref UMLS:C4749904 semapv:UnspecifiedMatching Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref MESH:C537291 semapv:UnspecifiedMatching Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref OMIM:602361 semapv:UnspecifiedMatching Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref UMLS:C1865639 semapv:UnspecifiedMatching @@ -13506,12 +15807,14 @@ Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:U Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MedDRA:10031231 semapv:UnspecifiedMatching Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 semapv:UnspecifiedMatching Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref OMIM:614156 semapv:UnspecifiedMatching Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref UMLS:C3279964 semapv:UnspecifiedMatching Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749270 semapv:UnspecifiedMatching +Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.A0 semapv:UnspecifiedMatching Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C5190512 semapv:UnspecifiedMatching @@ -13519,6 +15822,7 @@ Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref icd11: Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching Orphanet:276429 Hypnic headache oboInOwl:hasDbXref UMLS:C0752150 semapv:UnspecifiedMatching +Orphanet:276429 Hypnic headache oboInOwl:hasDbXref icd11:8A83 semapv:UnspecifiedMatching Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref MedDRA:10082376 semapv:UnspecifiedMatching @@ -13552,6 +15856,8 @@ Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficien Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching +Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching +Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref UMLS:C4707333 semapv:UnspecifiedMatching Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -13559,6 +15865,7 @@ Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers obo Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref OMIM:300844 semapv:UnspecifiedMatching Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref UMLS:C5680787 semapv:UnspecifiedMatching Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching +Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref MESH:C565076 semapv:UnspecifiedMatching Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref OMIM:127820 semapv:UnspecifiedMatching Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref UMLS:C1851956 semapv:UnspecifiedMatching @@ -13570,6 +15877,8 @@ Orphanet:2768 Blount disease oboInOwl:hasDbXref MedDRA:10072255 semapv:Unspecifi Orphanet:2768 Blount disease oboInOwl:hasDbXref OMIM:188700 semapv:UnspecifiedMatching Orphanet:2768 Blount disease oboInOwl:hasDbXref OMIM:259200 semapv:UnspecifiedMatching Orphanet:2768 Blount disease oboInOwl:hasDbXref UMLS:C0220757 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching +Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref MESH:C564923 semapv:UnspecifiedMatching Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref OMIM:259250 semapv:UnspecifiedMatching @@ -13590,31 +15899,40 @@ Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:618193 semapv:Unspecif Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref UMLS:C1857316 semapv:UnspecifiedMatching Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref ICD10:M21.8 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref ICD10:M21.8 semapv:UnspecifiedMatching Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref MedDRA:10063718 semapv:UnspecifiedMatching Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref OMIM:609220 semapv:UnspecifiedMatching Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref UMLS:C0432253 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref MESH:C537558 semapv:UnspecifiedMatching Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref OMIM:259410 semapv:UnspecifiedMatching Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref UMLS:C1850184 semapv:UnspecifiedMatching +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4302824 semapv:UnspecifiedMatching +Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref MESH:C567171 semapv:UnspecifiedMatching Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref OMIM:166300 semapv:UnspecifiedMatching Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref UMLS:C2674705 semapv:UnspecifiedMatching Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref MESH:C536052 semapv:UnspecifiedMatching Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref OMIM:259610 semapv:UnspecifiedMatching Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref UMLS:C1850143 semapv:UnspecifiedMatching Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref MESH:C537792 semapv:UnspecifiedMatching Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref OMIM:166450 semapv:UnspecifiedMatching Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref UMLS:C0432264 semapv:UnspecifiedMatching +Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref MESH:C536054 semapv:UnspecifiedMatching @@ -13628,36 +15946,51 @@ Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref UMLS:C0432268 semapv:UnspecifiedMatching Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MedDRA:10031280 semapv:UnspecifiedMatching Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref UMLS:C5680905 semapv:UnspecifiedMatching +Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching +Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref MESH:C536056 semapv:UnspecifiedMatching Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref OMIM:607634 semapv:UnspecifiedMatching Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref UMLS:C1843330 semapv:UnspecifiedMatching +Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref MESH:C536058 semapv:UnspecifiedMatching Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:259730 semapv:UnspecifiedMatching Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref UMLS:C0345407 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref MESH:C536062 semapv:UnspecifiedMatching Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref OMIM:601220 semapv:UnspecifiedMatching Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref UMLS:C1832592 semapv:UnspecifiedMatching +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref UMLS:C4274786 semapv:UnspecifiedMatching +Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 semapv:UnspecifiedMatching Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MedDRA:10052452 semapv:UnspecifiedMatching Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS:C0432252 semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref MESH:C537878 semapv:UnspecifiedMatching Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref UMLS:C1851710 semapv:UnspecifiedMatching +Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref icd11:LA07.Y semapv:UnspecifiedMatching Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref MESH:C536748 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref UMLS:C0432273 semapv:UnspecifiedMatching @@ -13667,6 +16000,7 @@ Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:Unspecifi Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref MESH:C563482 semapv:UnspecifiedMatching Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:UnspecifiedMatching Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref UMLS:C1833693 semapv:UnspecifiedMatching +Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref icd11:LA30.4 semapv:UnspecifiedMatching Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref MESH:C563481 semapv:UnspecifiedMatching @@ -13674,12 +16008,16 @@ Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref OMIM:166780 semapv:Un Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref OMIM:615560 semapv:UnspecifiedMatching Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref UMLS:C1833691 semapv:UnspecifiedMatching Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref MESH:C564912 semapv:UnspecifiedMatching Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref OMIM:259780 semapv:UnspecifiedMatching Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref UMLS:C1850105 semapv:UnspecifiedMatching +Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref icd11:LD27.4 semapv:UnspecifiedMatching Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.1 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.1 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.2 semapv:UnspecifiedMatching Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.2 semapv:UnspecifiedMatching Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching @@ -13688,11 +16026,14 @@ Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref MESH:C537271 semapv:UnspecifiedMatching Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref UMLS:C2931462 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref MedDRA:10051686 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:167100 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:614441 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref UMLS:C0029411 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref icd11:FB86.10 semapv:UnspecifiedMatching +Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref MESH:C538091 semapv:UnspecifiedMatching Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:600176 semapv:UnspecifiedMatching @@ -13701,6 +16042,7 @@ Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref ICD10:F98.4 semapv:Unspecified Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref ICD10:F98.4 semapv:UnspecifiedMatching Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref MedDRA:10059593 semapv:UnspecifiedMatching Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref UMLS:C1527306 semapv:UnspecifiedMatching +Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref icd11:8A04.Y semapv:UnspecifiedMatching Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching @@ -13714,25 +16056,35 @@ Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:Un Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref MedDRA:10008864 semapv:UnspecifiedMatching Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref UMLS:C0154774 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref icd11:9C21 semapv:UnspecifiedMatching Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:T37.2 semapv:UnspecifiedMatching Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:T37.2 semapv:UnspecifiedMatching Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref UMLS:C4706522 semapv:UnspecifiedMatching Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref UMLS:C5679779 semapv:UnspecifiedMatching +Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref icd11:2B33.5 semapv:UnspecifiedMatching +Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref MESH:D064090 semapv:UnspecifiedMatching Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref UMLS:C0281658 semapv:UnspecifiedMatching +Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref icd11:2B33.5 semapv:UnspecifiedMatching Orphanet:279911 Primary organ-specific lymphoma oboInOwl:hasDbXref UMLS:C5680788 semapv:UnspecifiedMatching Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref ICD10:H30.2 semapv:UnspecifiedMatching +Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref ICD10:H30.2 semapv:UnspecifiedMatching Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref MESH:D015867 semapv:UnspecifiedMatching Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref MedDRA:10022557 semapv:UnspecifiedMatching Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref UMLS:C0042166 semapv:UnspecifiedMatching +Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref icd11:9B66 semapv:UnspecifiedMatching +Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref ICD10:H32.0 semapv:UnspecifiedMatching Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref ICD10:H32.0 semapv:UnspecifiedMatching Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref UMLS:C5230265 semapv:UnspecifiedMatching Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref icd11:9B65.1 semapv:UnspecifiedMatching Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching @@ -13746,17 +16098,21 @@ Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:Unsp Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref UMLS:C5230354 semapv:UnspecifiedMatching Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref icd11:9C20.1 semapv:UnspecifiedMatching Orphanet:279928 Paraneoplastic uveitis oboInOwl:hasDbXref ICD10:H57.8 semapv:UnspecifiedMatching +Orphanet:279928 Paraneoplastic uveitis oboInOwl:hasDbXref ICD10:H57.8 semapv:UnspecifiedMatching Orphanet:279928 Paraneoplastic uveitis oboInOwl:hasDbXref UMLS:C5680786 semapv:UnspecifiedMatching Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref OMIM:251880 semapv:UnspecifiedMatching Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref UMLS:C5191055 semapv:UnspecifiedMatching Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref MESH:C563010 semapv:UnspecifiedMatching Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 semapv:UnspecifiedMatching Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref UMLS:C0543669 semapv:UnspecifiedMatching Orphanet:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref ICD10:F52.3 semapv:UnspecifiedMatching +Orphanet:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref ICD10:F52.3 semapv:UnspecifiedMatching Orphanet:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref UMLS:C4749582 semapv:UnspecifiedMatching +Orphanet:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref icd11:HA02.Y semapv:UnspecifiedMatching Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching @@ -13770,20 +16126,28 @@ Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MESH:D054877 semapv:Uns Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MedDRA:10050361 semapv:UnspecifiedMatching Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C1956097 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref icd11:LD44.41 semapv:UnspecifiedMatching Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref ICD10:C44.5 semapv:UnspecifiedMatching Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref ICD10:C44.5 semapv:UnspecifiedMatching Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MESH:D010145 semapv:UnspecifiedMatching Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MedDRA:10068223 semapv:UnspecifiedMatching Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref OMIM:167300 semapv:UnspecifiedMatching Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref UMLS:C0030186 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref icd11:2E64.1 semapv:UnspecifiedMatching +Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref MESH:D002115 semapv:UnspecifiedMatching Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref MedDRA:10051714 semapv:UnspecifiedMatching Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref UMLS:C0006666 semapv:UnspecifiedMatching +Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref icd11:EB90.42 semapv:UnspecifiedMatching +Orphanet:280065 Calciphylaxis cutis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:280065 Calciphylaxis cutis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:280065 Calciphylaxis cutis oboInOwl:hasDbXref UMLS:C4274083 semapv:UnspecifiedMatching +Orphanet:280065 Calciphylaxis cutis oboInOwl:hasDbXref icd11:EB90.42 semapv:UnspecifiedMatching +Orphanet:280068 Visceral calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:280068 Visceral calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:280068 Visceral calciphylaxis oboInOwl:hasDbXref UMLS:C4749793 semapv:UnspecifiedMatching +Orphanet:280068 Visceral calciphylaxis oboInOwl:hasDbXref icd11:EB90.42 semapv:UnspecifiedMatching Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref OMIM:613661 semapv:UnspecifiedMatching @@ -13792,6 +16156,8 @@ Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatc Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.9 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.9 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref MESH:C537701 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref OMIM:239000 semapv:UnspecifiedMatching @@ -13800,6 +16166,8 @@ Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref icd11:FB85.0 semapv:Unsp Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching +Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching +Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 semapv:UnspecifiedMatching Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref UMLS:C1332655 semapv:UnspecifiedMatching @@ -13814,15 +16182,19 @@ Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect obo Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref OMIM:613646 semapv:UnspecifiedMatching Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref UMLS:C4749905 semapv:UnspecifiedMatching Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref UMLS:C5679777 semapv:UnspecifiedMatching Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref MESH:C536358 semapv:UnspecifiedMatching Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref OMIM:301310 semapv:UnspecifiedMatching Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1845028 semapv:UnspecifiedMatching +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref icd11:3A72.01 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching @@ -13831,40 +16203,54 @@ Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semap Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref UMLS:C5393309 semapv:UnspecifiedMatching Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching Orphanet:280205 Laryngotracheoesophageal cleft type 0 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:280205 Laryngotracheoesophageal cleft type 0 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:280205 Laryngotracheoesophageal cleft type 0 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref UMLS:C5679776 semapv:UnspecifiedMatching Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref UMLS:C0751916 semapv:UnspecifiedMatching Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref UMLS:C0751917 semapv:UnspecifiedMatching Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280234 Null syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref UMLS:C4274084 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref icd11:LD90.2 semapv:UnspecifiedMatching +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref MESH:C563855 semapv:UnspecifiedMatching Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref UMLS:C1837355 semapv:UnspecifiedMatching +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref icd11:LD90.2 semapv:UnspecifiedMatching +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref MESH:C567390 semapv:UnspecifiedMatching Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref icd11:LD90.2 semapv:UnspecifiedMatching +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref icd11:LD90.2 semapv:UnspecifiedMatching Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref icd11:DC33 semapv:UnspecifiedMatching @@ -13875,13 +16261,16 @@ Orphanet:280325 Distal deletion 12p oboInOwl:hasDbXref ICD10:Q93.5 semapv:Unspec Orphanet:280325 Distal deletion 12p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:280325 Distal deletion 12p oboInOwl:hasDbXref UMLS:C4749581 semapv:UnspecifiedMatching Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref OMIM:613818 semapv:UnspecifiedMatching Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref UMLS:C4511963 semapv:UnspecifiedMatching Orphanet:280342 Rare systemic or rheumatological disease of childhood oboInOwl:hasDbXref UMLS:C5680785 semapv:UnspecifiedMatching Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:613877 semapv:UnspecifiedMatching Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C5191005 semapv:UnspecifiedMatching Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref UMLS:C5680783 semapv:UnspecifiedMatching Orphanet:280369 Rare pediatric vasculitis oboInOwl:hasDbXref UMLS:C5680782 semapv:UnspecifiedMatching Orphanet:280373 Rare pediatric systemic disease oboInOwl:hasDbXref UMLS:C5680784 semapv:UnspecifiedMatching @@ -13890,7 +16279,9 @@ Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy o Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref UMLS:C5191004 semapv:UnspecifiedMatching Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oboInOwl:hasDbXref UMLS:C4749580 semapv:UnspecifiedMatching Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref UMLS:C4303482 semapv:UnspecifiedMatching +Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref icd11:8E02.3 semapv:UnspecifiedMatching Orphanet:2804 W syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2804 W syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2804 W syndrome oboInOwl:hasDbXref MESH:C538106 semapv:UnspecifiedMatching @@ -13899,20 +16290,24 @@ Orphanet:2804 W syndrome oboInOwl:hasDbXref OMIM:311450 semapv:UnspecifiedMatchi Orphanet:2804 W syndrome oboInOwl:hasDbXref UMLS:C0796110 semapv:UnspecifiedMatching Orphanet:280400 Inherited human prion disease oboInOwl:hasDbXref UMLS:C5679775 semapv:UnspecifiedMatching Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching +Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism oboInOwl:hasDbXref UMLS:C4749579 semapv:UnspecifiedMatching Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref OMIM:614650 semapv:UnspecifiedMatching Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref UMLS:C5191003 semapv:UnspecifiedMatching Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref ICD10:Q45.0 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref ICD10:Q45.0 semapv:UnspecifiedMatching Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:167755 semapv:UnspecifiedMatching Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:615935 semapv:UnspecifiedMatching Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref UMLS:C4305001 semapv:UnspecifiedMatching Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref icd11:LB21.4 semapv:UnspecifiedMatching Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref OMIM:613869 semapv:UnspecifiedMatching Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref UMLS:C5190691 semapv:UnspecifiedMatching +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref icd11:8C76 semapv:UnspecifiedMatching Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref OMIM:613398 semapv:UnspecifiedMatching @@ -13927,6 +16322,7 @@ Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:ha Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref OMIM:614078 semapv:UnspecifiedMatching Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref UMLS:C3279757 semapv:UnspecifiedMatching Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref OMIM:608895 semapv:UnspecifiedMatching Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref UMLS:C5190690 semapv:UnspecifiedMatching Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching @@ -13936,17 +16332,21 @@ Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref MESH:D013 Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref MedDRA:10042297 semapv:UnspecifiedMatching Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref icd11:8A45.01 semapv:UnspecifiedMatching Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref OMIM:613977 semapv:UnspecifiedMatching Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref UMLS:C5190689 semapv:UnspecifiedMatching Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref OMIM:614018 semapv:UnspecifiedMatching Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref UMLS:C5190805 semapv:UnspecifiedMatching +Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref UMLS:C4706423 semapv:UnspecifiedMatching +Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref icd11:EC23.Y semapv:UnspecifiedMatching Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref OMIM:614080 semapv:UnspecifiedMatching @@ -13956,12 +16356,15 @@ Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref ICD10 Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref OMIM:614115 semapv:UnspecifiedMatching Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref UMLS:C5190688 semapv:UnspecifiedMatching Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching +Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref UMLS:C5190687 semapv:UnspecifiedMatching Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref MESH:C566527 semapv:UnspecifiedMatching Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref OMIM:602541 semapv:UnspecifiedMatching Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1865233 semapv:UnspecifiedMatching @@ -13970,6 +16373,8 @@ Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonado Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:300845 semapv:UnspecifiedMatching Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4518329 semapv:UnspecifiedMatching +Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref icd11:LD2F.Y semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MESH:D020288 semapv:UnspecifiedMatching Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MedDRA:10008777 semapv:UnspecifiedMatching @@ -13984,53 +16389,78 @@ Orphanet:280763 Severe intellectual disability and progressive spastic paraplegi Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614067 semapv:UnspecifiedMatching Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref UMLS:C4755264 semapv:UnspecifiedMatching Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref MESH:C562998 semapv:UnspecifiedMatching Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref UMLS:C0473555 semapv:UnspecifiedMatching +Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref icd11:EF20.4 semapv:UnspecifiedMatching +Orphanet:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref UMLS:C4305323 semapv:UnspecifiedMatching +Orphanet:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref icd11:EF20.Y semapv:UnspecifiedMatching Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C5546764 semapv:UnspecifiedMatching +Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.1Y semapv:UnspecifiedMatching Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C5679949 semapv:UnspecifiedMatching +Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.1Y semapv:UnspecifiedMatching Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref MESH:C536354 semapv:UnspecifiedMatching Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref OMIM:150260 semapv:UnspecifiedMatching Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref UMLS:C0396059 semapv:UnspecifiedMatching +Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching +Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref UMLS:C5679950 semapv:UnspecifiedMatching Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref icd11:LA75.6 semapv:UnspecifiedMatching Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref UMLS:C5679951 semapv:UnspecifiedMatching Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref icd11:LA75.6 semapv:UnspecifiedMatching Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref UMLS:C5437764 semapv:UnspecifiedMatching +Orphanet:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref icd11:LA75.4 semapv:UnspecifiedMatching +Orphanet:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref UMLS:C5437763 semapv:UnspecifiedMatching +Orphanet:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref icd11:LA75.4 semapv:UnspecifiedMatching +Orphanet:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref UMLS:C5437761 semapv:UnspecifiedMatching +Orphanet:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref icd11:LA75.4 semapv:UnspecifiedMatching +Orphanet:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref UMLS:C5437762 semapv:UnspecifiedMatching +Orphanet:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref icd11:LA75.4 semapv:UnspecifiedMatching +Orphanet:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching Orphanet:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref UMLS:C5437760 semapv:UnspecifiedMatching +Orphanet:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref icd11:LA75.4 semapv:UnspecifiedMatching Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref MESH:D014606 semapv:UnspecifiedMatching Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref MedDRA:10002709 semapv:UnspecifiedMatching Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref UMLS:C0042165 semapv:UnspecifiedMatching +Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref icd11:9A96 semapv:UnspecifiedMatching Orphanet:280892 Posterior uveitis oboInOwl:hasDbXref MESH:D015866 semapv:UnspecifiedMatching Orphanet:280892 Posterior uveitis oboInOwl:hasDbXref MedDRA:10036370 semapv:UnspecifiedMatching Orphanet:280892 Posterior uveitis oboInOwl:hasDbXref UMLS:C0042167 semapv:UnspecifiedMatching Orphanet:280898 Panuveitis oboInOwl:hasDbXref MESH:D015864 semapv:UnspecifiedMatching Orphanet:280898 Panuveitis oboInOwl:hasDbXref MedDRA:10033687 semapv:UnspecifiedMatching Orphanet:280898 Panuveitis oboInOwl:hasDbXref UMLS:C0030343 semapv:UnspecifiedMatching +Orphanet:280898 Panuveitis oboInOwl:hasDbXref icd11:9C20 semapv:UnspecifiedMatching +Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref MESH:C565028 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref OMIM:134200 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref UMLS:C1851399 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref icd11:8B88.0 semapv:UnspecifiedMatching Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching @@ -14053,6 +16483,8 @@ Orphanet:281 Monosomy 5p oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatch Orphanet:281 Monosomy 5p oboInOwl:hasDbXref MedDRA:10011385 semapv:UnspecifiedMatching Orphanet:281 Monosomy 5p oboInOwl:hasDbXref OMIM:123450 semapv:UnspecifiedMatching Orphanet:281 Monosomy 5p oboInOwl:hasDbXref UMLS:C0010314 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref icd11:LD44.51 semapv:UnspecifiedMatching +Orphanet:2810 NON RARE IN EUROPE: Idiopathic facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching Orphanet:2810 NON RARE IN EUROPE: Idiopathic facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching Orphanet:281082 Inherited non-syndromic ichthyosis oboInOwl:hasDbXref UMLS:C5681020 semapv:UnspecifiedMatching Orphanet:281082 Inherited non-syndromic ichthyosis oboInOwl:hasDbXref icd11:EC20.0 semapv:UnspecifiedMatching @@ -14062,7 +16494,9 @@ Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10 Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C4274085 semapv:UnspecifiedMatching +Orphanet:281097 Autosomal recessive congenital ichthyosis oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching Orphanet:281103 Keratinopathic ichthyosis oboInOwl:hasDbXref UMLS:C4511307 semapv:UnspecifiedMatching +Orphanet:281103 Keratinopathic ichthyosis oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref MESH:C565473 semapv:UnspecifiedMatching @@ -14070,15 +16504,19 @@ Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242100 sem Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref UMLS:C1855789 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref UMLS:C4305324 semapv:UnspecifiedMatching +Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 semapv:UnspecifiedMatching Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:620148 semapv:UnspecifiedMatching Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C1843463 semapv:UnspecifiedMatching +Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching +Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:609165 semapv:UnspecifiedMatching Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C3665704 semapv:UnspecifiedMatching @@ -14089,6 +16527,7 @@ Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref MESH:C564905 semapv:U Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref OMIM:260530 semapv:UnspecifiedMatching Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref UMLS:C1850079 semapv:UnspecifiedMatching Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref MESH:C566600 semapv:UnspecifiedMatching Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref OMIM:601952 semapv:UnspecifiedMatching Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref UMLS:C1866029 semapv:UnspecifiedMatching @@ -14108,6 +16547,7 @@ Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref ICD10:G11 Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref MESH:C536692 semapv:UnspecifiedMatching Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref OMIM:312910 semapv:UnspecifiedMatching Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref UMLS:C2931291 semapv:UnspecifiedMatching +Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2816 Spastic paraplegia-epilepsy-intellectual disability syndrome oboInOwl:hasDbXref OMIM:182610 semapv:UnspecifiedMatching Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching @@ -14124,11 +16564,13 @@ Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:Unspe Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref UMLS:C0338451 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref MESH:C537937 semapv:UnspecifiedMatching Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref OMIM:182690 semapv:UnspecifiedMatching Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref UMLS:C2931667 semapv:UnspecifiedMatching +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref MESH:C536870 semapv:UnspecifiedMatching @@ -14141,6 +16583,7 @@ Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:1234 Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0751254 semapv:UnspecifiedMatching Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E02.0 semapv:UnspecifiedMatching Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref MESH:D016884 semapv:UnspecifiedMatching Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref UMLS:C0085409 semapv:UnspecifiedMatching Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching @@ -14149,6 +16592,8 @@ Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MESH:C538335 semapv:UnspecifiedMatching Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref OMIM:604360 semapv:UnspecifiedMatching Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref UMLS:C2931821 semapv:UnspecifiedMatching +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching +Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref MESH:C537058 semapv:UnspecifiedMatching Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:309560 semapv:UnspecifiedMatching @@ -14164,6 +16609,7 @@ Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref OMIM:182820 semapv:UnspecifiedMatching Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref UMLS:C4518543 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:300557 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:600116 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:602404 semapv:UnspecifiedMatching @@ -14175,12 +16621,14 @@ Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:613643 semap Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:616840 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref UMLS:C4275179 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref icd11:8A00.00 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref MESH:C536299 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref OMIM:260555 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref UMLS:C1850075 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 semapv:UnspecifiedMatching +Orphanet:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref UMLS:C0392666 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref icd11:1G07.0 semapv:UnspecifiedMatching Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching @@ -14190,19 +16638,25 @@ Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref OMIM Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref UMLS:C1832359 semapv:UnspecifiedMatching Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref MESH:C537036 semapv:UnspecifiedMatching Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref OMIM:600269 semapv:UnspecifiedMatching Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref UMLS:C1838328 semapv:UnspecifiedMatching Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref MESH:C566112 semapv:UnspecifiedMatching Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref MedDRA:10085085 semapv:UnspecifiedMatching Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:184900 semapv:UnspecifiedMatching Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:228020 semapv:UnspecifiedMatching Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref UMLS:C1861456 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching +Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref MESH:C536750 semapv:UnspecifiedMatching Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref UMLS:C0406587 semapv:UnspecifiedMatching +Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref MESH:C536728 semapv:UnspecifiedMatching Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref OMIM:600399 semapv:UnspecifiedMatching @@ -14213,6 +16667,7 @@ Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref MESH:C536317 semapv:UnspecifiedMa Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref MedDRA:10086607 semapv:UnspecifiedMatching Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref UMLS:C1850055 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref OMIM:260650 semapv:UnspecifiedMatching @@ -14221,9 +16676,12 @@ Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 semapv:Unspecif Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref MedDRA:10069463 semapv:UnspecifiedMatching Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref OMIM:276600 semapv:UnspecifiedMatching Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref UMLS:C0268487 semapv:UnspecifiedMatching +Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref icd11:5C50.12 semapv:UnspecifiedMatching +Orphanet:2838 Renal caliceal diverticuli-deafness syndrome oboInOwl:hasDbXref ICD10:Q64.8 semapv:UnspecifiedMatching Orphanet:2838 Renal caliceal diverticuli-deafness syndrome oboInOwl:hasDbXref ICD10:Q64.8 semapv:UnspecifiedMatching Orphanet:2838 Renal caliceal diverticuli-deafness syndrome oboInOwl:hasDbXref UMLS:C5190738 semapv:UnspecifiedMatching Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref MESH:C566811 semapv:UnspecifiedMatching Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref OMIM:169550 semapv:UnspecifiedMatching Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref UMLS:C1868508 semapv:UnspecifiedMatching @@ -14243,11 +16701,14 @@ Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:h Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref OMIM:602484 semapv:UnspecifiedMatching Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref UMLS:C2930869 semapv:UnspecifiedMatching Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref icd11:EC20.2 semapv:UnspecifiedMatching Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching +Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching +Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref OMIM:245600 semapv:UnspecifiedMatching Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref UMLS:C4706575 semapv:UnspecifiedMatching @@ -14263,17 +16724,22 @@ Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.80 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching +Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref icd11:LD44.A1 semapv:UnspecifiedMatching Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref UMLS:C5190686 semapv:UnspecifiedMatching +Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref MESH:C536650 semapv:UnspecifiedMatching Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref MedDRA:10067287 semapv:UnspecifiedMatching Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref UMLS:C1868854 semapv:UnspecifiedMatching +Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref icd11:LB5Y semapv:UnspecifiedMatching +Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref UMLS:C3854394 semapv:UnspecifiedMatching Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref OMIM:614228 semapv:UnspecifiedMatching Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref UMLS:C3280220 semapv:UnspecifiedMatching Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching @@ -14311,6 +16777,7 @@ Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocere Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref OMIM:609270 semapv:UnspecifiedMatching Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1836474 semapv:UnspecifiedMatching Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref MESH:C537312 semapv:UnspecifiedMatching Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C1842676 semapv:UnspecifiedMatching @@ -14327,19 +16794,28 @@ Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref ICD10:D14.3 sem Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref UMLS:C5679952 semapv:UnspecifiedMatching Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref MedDRA:10073240 semapv:UnspecifiedMatching Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref UMLS:C3544214 semapv:UnspecifiedMatching Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref icd11:8B22.2 semapv:UnspecifiedMatching Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref UMLS:C3873372 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref icd11:2C25.0 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching @@ -14369,37 +16845,45 @@ Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile fo Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:610992 semapv:UnspecifiedMatching Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref UMLS:C1970253 semapv:UnspecifiedMatching Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref MESH:C538133 semapv:UnspecifiedMatching Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref OMIM:612933 semapv:UnspecifiedMatching Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref UMLS:C2931743 semapv:UnspecifiedMatching Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref MESH:C563641 semapv:UnspecifiedMatching Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref OMIM:614128 semapv:UnspecifiedMatching Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref UMLS:C3279904 semapv:UnspecifiedMatching Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:284448 CLIPPERS oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:284448 CLIPPERS oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:284448 CLIPPERS oboInOwl:hasDbXref MedDRA:10075197 semapv:UnspecifiedMatching Orphanet:284448 CLIPPERS oboInOwl:hasDbXref UMLS:C3854437 semapv:UnspecifiedMatching Orphanet:284448 CLIPPERS oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref UMLS:C0730298 semapv:UnspecifiedMatching +Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching +Orphanet:284460 Acute annular outer retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:284460 Acute annular outer retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:284460 Acute annular outer retinopathy oboInOwl:hasDbXref UMLS:C5191002 semapv:UnspecifiedMatching Orphanet:2846 Congenital pericardium anomaly oboInOwl:hasDbXref UMLS:C0685699 semapv:UnspecifiedMatching Orphanet:2846 Congenital pericardium anomaly oboInOwl:hasDbXref icd11:LA8D semapv:UnspecifiedMatching Orphanet:2847 Pericardial and diaphragmatic defect oboInOwl:hasDbXref ICD10:Q79.1 semapv:UnspecifiedMatching +Orphanet:2847 Pericardial and diaphragmatic defect oboInOwl:hasDbXref ICD10:Q79.1 semapv:UnspecifiedMatching Orphanet:2847 Pericardial and diaphragmatic defect oboInOwl:hasDbXref UMLS:C4510305 semapv:UnspecifiedMatching Orphanet:284786 Qualitative or quantitative defects of troponin oboInOwl:hasDbXref UMLS:C5681011 semapv:UnspecifiedMatching Orphanet:284790 Qualitative or quantitative defects of tropomyosin oboInOwl:hasDbXref UMLS:C5681012 semapv:UnspecifiedMatching Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref ICD10:M12.8 semapv:UnspecifiedMatching +Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref ICD10:M12.8 semapv:UnspecifiedMatching Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref MESH:C537560 semapv:UnspecifiedMatching Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 semapv:UnspecifiedMatching Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref UMLS:C1859690 semapv:UnspecifiedMatching Orphanet:284804 Ocular albinism oboInOwl:hasDbXref MESH:D016117 semapv:UnspecifiedMatching Orphanet:284804 Ocular albinism oboInOwl:hasDbXref MedDRA:10065276 semapv:UnspecifiedMatching Orphanet:284804 Ocular albinism oboInOwl:hasDbXref UMLS:C0078917 semapv:UnspecifiedMatching +Orphanet:284804 Ocular albinism oboInOwl:hasDbXref icd11:9E1Y semapv:UnspecifiedMatching Orphanet:284811 Syndromic oculocutaneous albinism oboInOwl:hasDbXref UMLS:C5681016 semapv:UnspecifiedMatching Orphanet:284814 Disorder of phenylalanine metabolism oboInOwl:hasDbXref UMLS:C0268461 semapv:UnspecifiedMatching Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching @@ -14407,18 +16891,23 @@ Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref ICD10:E70.2 s Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref UMLS:C0268482 semapv:UnspecifiedMatching Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref icd11:5C50.1 semapv:UnspecifiedMatching Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref MESH:C536399 semapv:UnspecifiedMatching Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref MedDRA:10088870 semapv:UnspecifiedMatching Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref OMIM:267000 semapv:UnspecifiedMatching Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref UMLS:C0796113 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching +Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref UMLS:C2931058 semapv:UnspecifiedMatching Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref UMLS:C4016054 semapv:UnspecifiedMatching Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref icd11:LD28.0Y semapv:UnspecifiedMatching Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -14432,6 +16921,7 @@ Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 s Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536196 semapv:UnspecifiedMatching Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268337 semapv:UnspecifiedMatching +Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536660 semapv:UnspecifiedMatching @@ -14444,6 +16934,7 @@ Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection Orphanet:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref MESH:C537586 semapv:UnspecifiedMatching Orphanet:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref UMLS:C1838257 semapv:UnspecifiedMatching Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref MESH:C538189 semapv:UnspecifiedMatching Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref OMIM:228930 semapv:UnspecifiedMatching Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref UMLS:C1856728 semapv:UnspecifiedMatching @@ -14458,12 +16949,14 @@ Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:615300 semapv:Unspecifie Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:616138 semapv:UnspecifiedMatching Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:617565 semapv:UnspecifiedMatching Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref UMLS:C0685838 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref MESH:C536665 semapv:UnspecifiedMatching Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref MedDRA:10081352 semapv:UnspecifiedMatching Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref OMIM:261550 semapv:UnspecifiedMatching Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref UMLS:C1849930 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching Orphanet:285657 Disorder of folate metabolism and transport oboInOwl:hasDbXref UMLS:C5681010 semapv:UnspecifiedMatching Orphanet:285657 Disorder of folate metabolism and transport oboInOwl:hasDbXref icd11:5C63.1 semapv:UnspecifiedMatching Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching @@ -14471,6 +16964,8 @@ Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 sema Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D000094623 semapv:UnspecifiedMatching Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 semapv:UnspecifiedMatching Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268338 semapv:UnspecifiedMatching +Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching +Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref MESH:C566105 semapv:UnspecifiedMatching Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref OMIM:185120 semapv:UnspecifiedMatching @@ -14480,16 +16975,21 @@ Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXre Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref MESH:C535613 semapv:UnspecifiedMatching Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref UMLS:C2930950 semapv:UnspecifiedMatching Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4274785 semapv:UnspecifiedMatching +Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref MESH:C537121 semapv:UnspecifiedMatching Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref OMIM:601350 semapv:UnspecifiedMatching Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref UMLS:C1832439 semapv:UnspecifiedMatching Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref OMIM:126190 semapv:UnspecifiedMatching Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref UMLS:C4274784 semapv:UnspecifiedMatching Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:UnspecifiedMatching Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MedDRA:10034764 semapv:UnspecifiedMatching Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 semapv:UnspecifiedMatching @@ -14504,6 +17004,7 @@ Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.10 s Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome oboInOwl:hasDbXref ICD10:N48.6 semapv:UnspecifiedMatching Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome oboInOwl:hasDbXref ICD10:N48.6 semapv:UnspecifiedMatching Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref MESH:C537889 semapv:UnspecifiedMatching Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref OMIM:261560 semapv:UnspecifiedMatching Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref UMLS:C1849929 semapv:UnspecifiedMatching @@ -14514,20 +17015,27 @@ Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref OMIM:2184 Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref UMLS:C1857495 semapv:UnspecifiedMatching Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref MESH:C537893 semapv:UnspecifiedMatching Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref UMLS:C2931658 semapv:UnspecifiedMatching +Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching +Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref MESH:C537894 semapv:UnspecifiedMatching Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref UMLS:C1274879 semapv:UnspecifiedMatching +Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref MESH:C538357 semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref OMIM:261575 semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref UMLS:C1849928 semapv:UnspecifiedMatching Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref MESH:C537498 semapv:UnspecifiedMatching Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref OMIM:171480 semapv:UnspecifiedMatching Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref UMLS:C1868390 semapv:UnspecifiedMatching +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref MESH:C535612 semapv:UnspecifiedMatching Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref OMIM:276820 semapv:UnspecifiedMatching @@ -14543,15 +17051,19 @@ Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:617948 semapv:Uns Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref UMLS:C0013902 semapv:UnspecifiedMatching Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref icd11:3A10.2 semapv:UnspecifiedMatching Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref MESH:C536654 semapv:UnspecifiedMatching Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261650 semapv:UnspecifiedMatching Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261680 semapv:UnspecifiedMatching Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref UMLS:C0268194 semapv:UnspecifiedMatching Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref icd11:5C53.0Y semapv:UnspecifiedMatching Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref ICD10:L57.8 semapv:UnspecifiedMatching +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref ICD10:L57.8 semapv:UnspecifiedMatching Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref MESH:C536224 semapv:UnspecifiedMatching Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref OMIM:219095 semapv:UnspecifiedMatching Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref UMLS:C4303808 semapv:UnspecifiedMatching +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref icd11:DB33.Y semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref MESH:C537345 semapv:UnspecifiedMatching Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref MedDRA:10063985 semapv:UnspecifiedMatching @@ -14560,10 +17072,12 @@ Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:618666 semapv:UnspecifiedMa Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref UMLS:C0342907 semapv:UnspecifiedMatching Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref icd11:5C52.1Y semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref MESH:D016116 semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref MedDRA:10084262 semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref UMLS:C0080024 semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref MESH:C536955 semapv:UnspecifiedMatching Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref OMIM:172850 semapv:UnspecifiedMatching Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref UMLS:C1868311 semapv:UnspecifiedMatching @@ -14585,6 +17099,7 @@ Orphanet:2889 Pili torti oboInOwl:hasDbXref OMIM:261900 semapv:UnspecifiedMatchi Orphanet:2889 Pili torti oboInOwl:hasDbXref UMLS:C0263491 semapv:UnspecifiedMatching Orphanet:2889 Pili torti oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MESH:D004613 semapv:UnspecifiedMatching Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MedDRA:10008724 semapv:UnspecifiedMatching Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:225500 semapv:UnspecifiedMatching @@ -14605,14 +17120,17 @@ Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref UMLS:C4274783 semapv:UnspecifiedMatching Orphanet:289103 Hypocalcemic rickets oboInOwl:hasDbXref UMLS:C4302195 semapv:UnspecifiedMatching Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref ICD10:E55.0 semapv:UnspecifiedMatching +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref ICD10:E55.0 semapv:UnspecifiedMatching Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:264700 semapv:UnspecifiedMatching Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:600081 semapv:UnspecifiedMatching Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref UMLS:C0268689 semapv:UnspecifiedMatching Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref icd11:5C63.20 semapv:UnspecifiedMatching Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:241520 semapv:UnspecifiedMatching Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:613312 semapv:UnspecifiedMatching Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0342643 semapv:UnspecifiedMatching +Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref icd11:5C63.22 semapv:UnspecifiedMatching Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref MESH:C535763 semapv:UnspecifiedMatching @@ -14620,10 +17138,12 @@ Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref UMLS:C1849805 semapv:UnspecifiedMatching Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref UMLS:C4749281 semapv:UnspecifiedMatching Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref OMIM:614300 semapv:UnspecifiedMatching Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref UMLS:C4706555 semapv:UnspecifiedMatching Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching @@ -14638,15 +17158,19 @@ Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref MESH:D015493 sem Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref MedDRA:10044696 semapv:UnspecifiedMatching Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref UMLS:C0030481 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref icd11:8A45.00 semapv:UnspecifiedMatching Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref ICD10:L30.3 semapv:UnspecifiedMatching Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref ICD10:L30.3 semapv:UnspecifiedMatching Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref UMLS:C4274291 semapv:UnspecifiedMatching Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref UMLS:C4274424 semapv:UnspecifiedMatching +Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching Orphanet:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching Orphanet:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching Orphanet:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref UMLS:C5679946 semapv:UnspecifiedMatching Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref ICD10:N13.7 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref ICD10:N13.7 semapv:UnspecifiedMatching Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:193000 semapv:UnspecifiedMatching Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:610878 semapv:UnspecifiedMatching Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:613674 semapv:UnspecifiedMatching @@ -14656,6 +17180,7 @@ Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614319 se Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:615390 semapv:UnspecifiedMatching Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:615963 semapv:UnspecifiedMatching Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref UMLS:C4706552 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref icd11:GB56.5 semapv:UnspecifiedMatching Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref MESH:C567129 semapv:UnspecifiedMatching @@ -14667,6 +17192,8 @@ Orphanet:289380 Myosclerosis oboInOwl:hasDbXref MESH:C564968 semapv:UnspecifiedM Orphanet:289380 Myosclerosis oboInOwl:hasDbXref MedDRA:10064584 semapv:UnspecifiedMatching Orphanet:289380 Myosclerosis oboInOwl:hasDbXref OMIM:255600 semapv:UnspecifiedMatching Orphanet:289380 Myosclerosis oboInOwl:hasDbXref UMLS:C1850671 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref icd11:8C72.1 semapv:UnspecifiedMatching +Orphanet:289385 Malignancy diagnosed during pregnancy oboInOwl:hasDbXref ICD10:O99.8 semapv:UnspecifiedMatching Orphanet:289385 Malignancy diagnosed during pregnancy oboInOwl:hasDbXref ICD10:O99.8 semapv:UnspecifiedMatching Orphanet:289385 Malignancy diagnosed during pregnancy oboInOwl:hasDbXref UMLS:C5679948 semapv:UnspecifiedMatching Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching @@ -14677,6 +17204,7 @@ Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref icd11:4A43.20 semap Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref OMIM:136000 semapv:UnspecifiedMatching Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref UMLS:C4706567 semapv:UnspecifiedMatching Orphanet:289478 PASH syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching @@ -14685,7 +17213,10 @@ Orphanet:289478 PASH syndrome oboInOwl:hasDbXref UMLS:C5191642 semapv:Unspecifie Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref OMIM:300858 semapv:UnspecifiedMatching Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref UMLS:C4706563 semapv:UnspecifiedMatching Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref UMLS:C5679947 semapv:UnspecifiedMatching +Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref icd11:8A44.Z semapv:UnspecifiedMatching +Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref OMIM:269400 semapv:UnspecifiedMatching Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref UMLS:C3151617 semapv:UnspecifiedMatching @@ -14722,13 +17253,16 @@ Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboI Orphanet:289573 Multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref MESH:C565304 semapv:UnspecifiedMatching Orphanet:289573 Multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref UMLS:C3502075 semapv:UnspecifiedMatching Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref MESH:C563978 semapv:UnspecifiedMatching Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:607936 semapv:UnspecifiedMatching Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:617115 semapv:UnspecifiedMatching Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref UMLS:C1838440 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref UMLS:C1367536 semapv:UnspecifiedMatching +Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref icd11:2E90.6 semapv:UnspecifiedMatching Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref MESH:C537403 semapv:UnspecifiedMatching @@ -14736,6 +17270,7 @@ Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref OMIM:610954 semapv:Unspec Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS:C1970431 semapv:UnspecifiedMatching Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref MESH:C565891 semapv:UnspecifiedMatching Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 semapv:UnspecifiedMatching Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref UMLS:C1859372 semapv:UnspecifiedMatching @@ -14746,14 +17281,17 @@ Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative diso Orphanet:289651 Epstein-Barr Virus-associated carcinoma oboInOwl:hasDbXref UMLS:C5679940 semapv:UnspecifiedMatching Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor oboInOwl:hasDbXref UMLS:C5679941 semapv:UnspecifiedMatching Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref UMLS:C2700007 semapv:UnspecifiedMatching Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref icd11:2A81.6 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MESH:D000069293 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MedDRA:10065039 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref UMLS:C3472614 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref icd11:2A81.2 semapv:UnspecifiedMatching Orphanet:289682 Lymphoepithelial-like carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:289682 Lymphoepithelial-like carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching Orphanet:289685 Myopericytoma oboInOwl:hasDbXref MESH:D000077777 semapv:UnspecifiedMatching @@ -14764,6 +17302,7 @@ Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:Un Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MedDRA:10035116 semapv:UnspecifiedMatching Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 semapv:UnspecifiedMatching Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref UMLS:C0032027 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref icd11:EA94 semapv:UnspecifiedMatching Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref MESH:C537512 semapv:UnspecifiedMatching @@ -14772,44 +17311,57 @@ Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:h Orphanet:289825 Late-onset primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681007 semapv:UnspecifiedMatching Orphanet:289829 Disorder of tryptophan metabolism oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching Orphanet:289841 Disorder of glutamine metabolism oboInOwl:hasDbXref UMLS:C0342669 semapv:UnspecifiedMatching Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref UMLS:C1856399 semapv:UnspecifiedMatching Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref UMLS:C5548200 semapv:UnspecifiedMatching Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref UMLS:C5548209 semapv:UnspecifiedMatching Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref OMIM:617301 semapv:UnspecifiedMatching Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref UMLS:C5548198 semapv:UnspecifiedMatching Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching Orphanet:289866 Disorder of proline metabolism oboInOwl:hasDbXref UMLS:C5681004 semapv:UnspecifiedMatching +Orphanet:289866 Disorder of proline metabolism oboInOwl:hasDbXref icd11:5C50.8 semapv:UnspecifiedMatching +Orphanet:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref UMLS:C0342690 semapv:UnspecifiedMatching +Orphanet:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref icd11:5C50.9 semapv:UnspecifiedMatching +Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref ICD10:P74.8 semapv:UnspecifiedMatching Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref ICD10:P74.8 semapv:UnspecifiedMatching Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref UMLS:C0268549 semapv:UnspecifiedMatching Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref OMIM:606664 semapv:UnspecifiedMatching Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref UMLS:C1847720 semapv:UnspecifiedMatching Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:289899 Organic aciduria oboInOwl:hasDbXref UMLS:C0241775 semapv:UnspecifiedMatching Orphanet:289899 Organic aciduria oboInOwl:hasDbXref icd11:5C50.E semapv:UnspecifiedMatching Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref MESH:C536538 semapv:UnspecifiedMatching Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:601216 semapv:UnspecifiedMatching Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C1832594 semapv:UnspecifiedMatching +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:289902 3-methylglutaconic aciduria oboInOwl:hasDbXref MESH:C579867 semapv:UnspecifiedMatching Orphanet:289902 3-methylglutaconic aciduria oboInOwl:hasDbXref UMLS:C3696376 semapv:UnspecifiedMatching Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching @@ -14822,6 +17374,8 @@ Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:Unspecified Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref MedDRA:10072219 semapv:UnspecifiedMatching Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref UMLS:C1959626 semapv:UnspecifiedMatching +Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref icd11:5C52.10 semapv:UnspecifiedMatching +Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref ICD10:P35.0 semapv:UnspecifiedMatching Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref ICD10:P35.0 semapv:UnspecifiedMatching Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref MESH:D012410 semapv:UnspecifiedMatching Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref MedDRA:10010618 semapv:UnspecifiedMatching @@ -14838,10 +17392,13 @@ Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref MESH:D020968 semapv:Unspec Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref MedDRA:10063020 semapv:UnspecifiedMatching Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref UMLS:C1510479 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref icd11:8B91.0 semapv:UnspecifiedMatching +Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C2930941 semapv:UnspecifiedMatching Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref icd11:CB02.11 semapv:UnspecifiedMatching Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref ICD10:J93.1 semapv:UnspecifiedMatching +Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref ICD10:J93.1 semapv:UnspecifiedMatching Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref OMIM:173600 semapv:UnspecifiedMatching Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref UMLS:C4275252 semapv:UnspecifiedMatching Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref icd11:CB21.1 semapv:UnspecifiedMatching @@ -14850,11 +17407,17 @@ Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMa Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref MESH:D016878 semapv:UnspecifiedMatching Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref MedDRA:10053869 semapv:UnspecifiedMatching Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref UMLS:C0085404 semapv:UnspecifiedMatching +Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref icd11:2A83.Y semapv:UnspecifiedMatching +Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref UMLS:C0406556 semapv:UnspecifiedMatching +Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C75.5 semapv:UnspecifiedMatching Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C75.5 semapv:UnspecifiedMatching Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.6 semapv:UnspecifiedMatching Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.6 semapv:UnspecifiedMatching Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:115310 semapv:UnspecifiedMatching @@ -14874,20 +17437,25 @@ Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref OMIM:254500 semapv:Unspecifie Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref UMLS:C0026764 semapv:UnspecifiedMatching Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref icd11:2A83.1 semapv:UnspecifiedMatching Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref MESH:C536321 semapv:UnspecifiedMatching Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref OMIM:173650 semapv:UnspecifiedMatching Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0406557 semapv:UnspecifiedMatching +Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:290836 Systemic disease with skin involvement oboInOwl:hasDbXref UMLS:C5681006 semapv:UnspecifiedMatching Orphanet:290839 Autoinflammatory syndrome with immune deficiency oboInOwl:hasDbXref UMLS:C5681005 semapv:UnspecifiedMatching Orphanet:290842 Autoinflammatory syndrome with skin involvement oboInOwl:hasDbXref UMLS:C5681002 semapv:UnspecifiedMatching Orphanet:290849 Rare head and neck tumor oboInOwl:hasDbXref UMLS:C5681003 semapv:UnspecifiedMatching Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 semapv:UnspecifiedMatching Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS:C0032339 semapv:UnspecifiedMatching +Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref UMLS:C4275251 semapv:UnspecifiedMatching +Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref icd11:KA62.2 semapv:UnspecifiedMatching Orphanet:2911 Poland syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:2911 Poland syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:2911 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching @@ -14906,6 +17474,7 @@ Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.3 semapv:UnspecifiedMat Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.4 semapv:UnspecifiedMatching Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.4 semapv:UnspecifiedMatching Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.9 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.9 semapv:UnspecifiedMatching Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref MESH:D011051 semapv:UnspecifiedMatching Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref MedDRA:10036012 semapv:UnspecifiedMatching Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref UMLS:C0032371 semapv:UnspecifiedMatching @@ -14914,10 +17483,13 @@ Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MESH:D017689 semapv:U Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MedDRA:10036063 semapv:UnspecifiedMatching Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref UMLS:C0152427 semapv:UnspecifiedMatching +Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref icd11:LB78 semapv:UnspecifiedMatching +Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref OMIM:263540 semapv:UnspecifiedMatching Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C4750750 semapv:UnspecifiedMatching Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref MESH:C536331 semapv:UnspecifiedMatching Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref OMIM:174310 semapv:UnspecifiedMatching Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref UMLS:C1868117 semapv:UnspecifiedMatching @@ -14926,23 +17498,29 @@ Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref ICD10:Q87.0 sem Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref MESH:C557819 semapv:UnspecifiedMatching Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref OMIM:174300 semapv:UnspecifiedMatching Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref UMLS:C1868118 semapv:UnspecifiedMatching +Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref UMLS:C4274223 semapv:UnspecifiedMatching +Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref icd11:KA62.5 semapv:UnspecifiedMatching +Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref MESH:C564931 semapv:UnspecifiedMatching Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref OMIM:258200 semapv:UnspecifiedMatching Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref UMLS:C1850320 semapv:UnspecifiedMatching Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref ICD10:M02.3 semapv:UnspecifiedMatching +Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref ICD10:M02.3 semapv:UnspecifiedMatching Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MESH:D016918 semapv:UnspecifiedMatching Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MedDRA:10003267 semapv:UnspecifiedMatching Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref UMLS:C0085435 semapv:UnspecifiedMatching Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref icd11:FA11.2 semapv:UnspecifiedMatching Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537888 semapv:UnspecifiedMatching Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931655 semapv:UnspecifiedMatching Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MESH:C536330 semapv:UnspecifiedMatching Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MedDRA:10048834 semapv:UnspecifiedMatching Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref OMIM:174050 semapv:UnspecifiedMatching @@ -14964,6 +17542,8 @@ Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:174900 semapv: Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref UMLS:C0345893 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref ICD10:P35.2 semapv:UnspecifiedMatching Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref ICD10:P35.2 semapv:UnspecifiedMatching Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref UMLS:C4275250 semapv:UnspecifiedMatching Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref icd11:1F00.Y semapv:UnspecifiedMatching @@ -14972,6 +17552,7 @@ Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:Un Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref MedDRA:10062907 semapv:UnspecifiedMatching Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 semapv:UnspecifiedMatching Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS:C0282207 semapv:UnspecifiedMatching +Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref icd11:LD27.01 semapv:UnspecifiedMatching Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching @@ -14983,6 +17564,7 @@ Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref UMLS:C5679943 semapv:UnspecifiedMatching Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref icd11:LB98.Y semapv:UnspecifiedMatching Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607655 semapv:UnspecifiedMatching Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4755263 semapv:UnspecifiedMatching Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching @@ -14991,10 +17573,12 @@ Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl: Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref OMIM:607225 semapv:UnspecifiedMatching Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref UMLS:C2931441 semapv:UnspecifiedMatching Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref ICD10:L27.0 semapv:UnspecifiedMatching +Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref ICD10:L27.0 semapv:UnspecifiedMatching Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref MESH:D056150 semapv:UnspecifiedMatching Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref MedDRA:10048799 semapv:UnspecifiedMatching Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref UMLS:C0877055 semapv:UnspecifiedMatching Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref MedDRA:10086114 semapv:UnspecifiedMatching Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:614959 semapv:UnspecifiedMatching @@ -15003,6 +17587,7 @@ Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref UMLS:C3494976 semapv:UnspecifiedMatching Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref icd11:8A61.12 semapv:UnspecifiedMatching Orphanet:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0334480 semapv:UnspecifiedMatching Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching @@ -15011,19 +17596,24 @@ Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXr Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0393819 semapv:UnspecifiedMatching Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref MedDRA:10015099 semapv:UnspecifiedMatching Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0205944 semapv:UnspecifiedMatching +Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref icd11:2B5F.2 semapv:UnspecifiedMatching Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref icd11:XH4F96 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref UMLS:C1861783 semapv:UnspecifiedMatching +Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref icd11:BD52.5 semapv:UnspecifiedMatching Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref UMLS:C5679945 semapv:UnspecifiedMatching Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref UMLS:C4305579 semapv:UnspecifiedMatching Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref MESH:C565155 semapv:UnspecifiedMatching Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref OMIM:122400 semapv:UnspecifiedMatching Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref UMLS:C1852551 semapv:UnspecifiedMatching @@ -15034,6 +17624,7 @@ Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref ME Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref OMIM:263630 semapv:UnspecifiedMatching Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref UMLS:C1849719 semapv:UnspecifiedMatching Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref UMLS:C0339282 semapv:UnspecifiedMatching Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching @@ -15043,13 +17634,17 @@ Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref OMIM:175690 semapv:Unspe Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref UMLS:C1867999 semapv:UnspecifiedMatching Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref MESH:C536439 semapv:UnspecifiedMatching Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref OMIM:217700 semapv:UnspecifiedMatching Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref UMLS:C1857569 semapv:UnspecifiedMatching +Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref icd11:9A70.0 semapv:UnspecifiedMatching +Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref MESH:C567587 semapv:UnspecifiedMatching Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:300779 semapv:UnspecifiedMatching Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749049 semapv:UnspecifiedMatching +Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref icd11:9A70.0 semapv:UnspecifiedMatching Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching @@ -15063,20 +17658,24 @@ Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref OMIM:604314 semapv:UnspecifiedMatching Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref UMLS:C4755262 semapv:UnspecifiedMatching Orphanet:293807 Ketamine-induced biliary dilatation oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching +Orphanet:293807 Ketamine-induced biliary dilatation oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching Orphanet:293807 Ketamine-induced biliary dilatation oboInOwl:hasDbXref UMLS:C4512018 semapv:UnspecifiedMatching Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref ICD10:L25.1 semapv:UnspecifiedMatching Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref ICD10:L25.1 semapv:UnspecifiedMatching Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref MedDRA:10016740 semapv:UnspecifiedMatching Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref UMLS:C0221242 semapv:UnspecifiedMatching +Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref icd11:EH66 semapv:UnspecifiedMatching Orphanet:293815 Toxic dermatosis oboInOwl:hasDbXref UMLS:C5680999 semapv:UnspecifiedMatching Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:614456 semapv:UnspecifiedMatching Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref UMLS:C4749577 semapv:UnspecifiedMatching Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS:C3150926 semapv:UnspecifiedMatching Orphanet:293830 Constitutional dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C5680998 semapv:UnspecifiedMatching +Orphanet:293830 Constitutional dyserythropoietic anemia oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -15087,6 +17686,7 @@ Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMa Orphanet:293843 3MC syndrome oboInOwl:hasDbXref UMLS:C4303860 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref OMIM:615710 semapv:UnspecifiedMatching @@ -15096,11 +17696,13 @@ Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref UMLS:C5679933 semapv:UnspecifiedMatching +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref UMLS:C5679932 semapv:UnspecifiedMatching +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching @@ -15108,10 +17710,13 @@ Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:618920 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching +Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:614416 semapv:UnspecifiedMatching Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4751129 semapv:UnspecifiedMatching Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref ICD10:H18.6 semapv:UnspecifiedMatching +Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref ICD10:H18.6 semapv:UnspecifiedMatching Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref OMIM:614303 semapv:UnspecifiedMatching Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref UMLS:C3280392 semapv:UnspecifiedMatching Orphanet:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching @@ -15121,6 +17726,7 @@ Orphanet:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref UMLS:C4 Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304578 semapv:UnspecifiedMatching +Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.11 semapv:UnspecifiedMatching Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref OMIM:614458 semapv:UnspecifiedMatching @@ -15130,19 +17736,23 @@ Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref OMIM:614187 semapv:UnspecifiedMatching Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref UMLS:C4751125 semapv:UnspecifiedMatching Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref OMIM:240900 semapv:UnspecifiedMatching Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref UMLS:C4751124 semapv:UnspecifiedMatching Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4751123 semapv:UnspecifiedMatching Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref OMIM:615577 semapv:UnspecifiedMatching Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4751122 semapv:UnspecifiedMatching Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref UMLS:C4751121 semapv:UnspecifiedMatching Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 semapv:UnspecifiedMatching +Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 semapv:UnspecifiedMatching Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref UMLS:C0349499 semapv:UnspecifiedMatching +Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref icd11:KA62.3 semapv:UnspecifiedMatching Orphanet:2940 Porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching Orphanet:2940 Porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching Orphanet:2940 Porencephaly oboInOwl:hasDbXref MESH:D065708 semapv:UnspecifiedMatching @@ -15179,6 +17789,7 @@ Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10:G14 semapv:Uns Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10:G14 semapv:UnspecifiedMatching Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref MESH:D016262 semapv:UnspecifiedMatching Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS:C0080040 semapv:UnspecifiedMatching +Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref icd11:8B62 semapv:UnspecifiedMatching Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref MESH:C567142 semapv:UnspecifiedMatching @@ -15189,11 +17800,13 @@ Orphanet:294422 Chronic intestinal failure oboInOwl:hasDbXref ICD10:K63.8 semapv Orphanet:294422 Chronic intestinal failure oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:294422 Chronic intestinal failure oboInOwl:hasDbXref UMLS:C4274352 semapv:UnspecifiedMatching Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref MESH:C566204 semapv:UnspecifiedMatching Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref OMIM:112430 semapv:UnspecifiedMatching Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref UMLS:C1862169 semapv:UnspecifiedMatching Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref MESH:C536564 semapv:UnspecifiedMatching Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref OMIM:190680 semapv:UnspecifiedMatching Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref UMLS:C1860804 semapv:UnspecifiedMatching @@ -15220,6 +17833,7 @@ Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref UMLS:C0265259 se Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref UMLS:C0265570 semapv:UnspecifiedMatching +Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref icd11:LB99.0 semapv:UnspecifiedMatching Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref UMLS:C0265621 semapv:UnspecifiedMatching @@ -15229,7 +17843,9 @@ Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMa Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref MESH:C536498 semapv:UnspecifiedMatching Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0685375 semapv:UnspecifiedMatching +Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref icd11:LB99.1 semapv:UnspecifiedMatching Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref UMLS:C0265574 semapv:UnspecifiedMatching @@ -15237,6 +17853,7 @@ Orphanet:294975 Congenital absence of upper arm and forearm with hand present ob Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref UMLS:C0265626 semapv:UnspecifiedMatching +Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref icd11:LB9A.3 semapv:UnspecifiedMatching Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref UMLS:C1306663 semapv:UnspecifiedMatching @@ -15244,6 +17861,7 @@ Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref i Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref UMLS:C3649652 semapv:UnspecifiedMatching +Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref icd11:LB9A.7 semapv:UnspecifiedMatching Orphanet:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching Orphanet:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching Orphanet:294983 Acheiria oboInOwl:hasDbXref UMLS:C0265594 semapv:UnspecifiedMatching @@ -15251,6 +17869,7 @@ Orphanet:294983 Acheiria oboInOwl:hasDbXref icd11:LB99.6 semapv:UnspecifiedMatch Orphanet:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching Orphanet:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching Orphanet:294986 Apodia oboInOwl:hasDbXref UMLS:C0265624 semapv:UnspecifiedMatching +Orphanet:294986 Apodia oboInOwl:hasDbXref icd11:LB9A.4 semapv:UnspecifiedMatching Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref UMLS:C0431890 semapv:UnspecifiedMatching @@ -15261,6 +17880,7 @@ Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref MESH:C536301 semapv:Un Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref UMLS:C2931167 semapv:UnspecifiedMatching Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref icd11:KA62.7 semapv:UnspecifiedMatching Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C536563 semapv:UnspecifiedMatching Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching @@ -15269,38 +17889,53 @@ Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref MESH:D000652 sema Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref MedDRA:10064100 semapv:UnspecifiedMatching Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref OMIM:217100 semapv:UnspecifiedMatching Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref UMLS:C0002636 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref icd11:LD26.5 semapv:UnspecifiedMatching +Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref UMLS:C4706507 semapv:UnspecifiedMatching +Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref icd11:LB77 semapv:UnspecifiedMatching +Orphanet:295004 Central polydactyly oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:295004 Central polydactyly oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:295004 Central polydactyly oboInOwl:hasDbXref UMLS:C0431903 semapv:UnspecifiedMatching Orphanet:295004 Central polydactyly oboInOwl:hasDbXref icd11:LB78.3 semapv:UnspecifiedMatching +Orphanet:295004 Central polydactyly oboInOwl:hasDbXref icd11:LB78.Y semapv:UnspecifiedMatching Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref UMLS:C4706525 semapv:UnspecifiedMatching +Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching +Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref UMLS:C4706540 semapv:UnspecifiedMatching Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref icd11:LB80.0 semapv:UnspecifiedMatching Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref OMIM:114200 semapv:UnspecifiedMatching Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref UMLS:C5551400 semapv:UnspecifiedMatching +Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref icd11:LB80.Y semapv:UnspecifiedMatching Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref UMLS:C0265661 semapv:UnspecifiedMatching +Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref icd11:LB9Y semapv:UnspecifiedMatching Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref UMLS:C5679939 semapv:UnspecifiedMatching +Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref icd11:LB9Y semapv:UnspecifiedMatching Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref UMLS:C5679935 semapv:UnspecifiedMatching +Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref icd11:LB9Y semapv:UnspecifiedMatching Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref UMLS:C5679936 semapv:UnspecifiedMatching +Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref icd11:LB9Y semapv:UnspecifiedMatching Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref UMLS:C5679937 semapv:UnspecifiedMatching +Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref icd11:LB9Y semapv:UnspecifiedMatching Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref UMLS:C4545230 semapv:UnspecifiedMatching +Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref icd11:LB90.6 semapv:UnspecifiedMatching Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref UMLS:C0265562 semapv:UnspecifiedMatching @@ -15310,6 +17945,7 @@ Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref I Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref UMLS:C5679938 semapv:UnspecifiedMatching Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching +Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref MedDRA:10010520 semapv:UnspecifiedMatching Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref UMLS:C0265669 semapv:UnspecifiedMatching Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref icd11:LB93 semapv:UnspecifiedMatching @@ -15322,23 +17958,30 @@ Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref ICD10:Q74.0 semapv:Un Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref MESH:C537720 semapv:UnspecifiedMatching Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref UMLS:C0574044 semapv:UnspecifiedMatching +Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref icd11:LB97.0 semapv:UnspecifiedMatching Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref UMLS:C0158768 semapv:UnspecifiedMatching +Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref icd11:LB97.1 semapv:UnspecifiedMatching Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref UMLS:C0575518 semapv:UnspecifiedMatching +Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref icd11:LB97.2 semapv:UnspecifiedMatching Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref UMLS:C0431928 semapv:UnspecifiedMatching +Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref icd11:LB97.3 semapv:UnspecifiedMatching +Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:274190 semapv:UnspecifiedMatching Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4304503 semapv:UnspecifiedMatching +Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref MESH:C565223 semapv:UnspecifiedMatching Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref OMIM:609815 semapv:UnspecifiedMatching Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref UMLS:C1853294 semapv:UnspecifiedMatching +Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching @@ -15348,6 +17991,7 @@ Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:Unspeci Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref UMLS:C5679982 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching @@ -15357,15 +18001,18 @@ Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:Unspeci Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref UMLS:C5679983 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref UMLS:C5679981 semapv:UnspecifiedMatching +Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref OMIM:186000 semapv:UnspecifiedMatching Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref UMLS:C5574994 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching @@ -15373,6 +18020,7 @@ Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:Unsp Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref MESH:C564278 semapv:UnspecifiedMatching Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref UMLS:C1842422 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching @@ -15380,6 +18028,8 @@ Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:Unsp Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref MESH:C565216 semapv:UnspecifiedMatching Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref UMLS:C1853255 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching +Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref OMIM:201550 semapv:UnspecifiedMatching Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref UMLS:C4304055 semapv:UnspecifiedMatching @@ -15402,9 +18052,11 @@ Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref icd11:LB90 Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref UMLS:C5679984 semapv:UnspecifiedMatching +Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref UMLS:C5679985 semapv:UnspecifiedMatching +Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref UMLS:C5681091 semapv:UnspecifiedMatching @@ -15413,27 +18065,38 @@ Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10 Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching +Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref UMLS:C0152235 semapv:UnspecifiedMatching +Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref icd11:LB93.0 semapv:UnspecifiedMatching +Orphanet:295232 Congenital genu flexum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching Orphanet:295232 Congenital genu flexum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching Orphanet:295232 Congenital genu flexum oboInOwl:hasDbXref UMLS:C5681090 semapv:UnspecifiedMatching +Orphanet:295232 Congenital genu flexum oboInOwl:hasDbXref icd11:LB93.1 semapv:UnspecifiedMatching Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref UMLS:C5679987 semapv:UnspecifiedMatching +Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref icd11:LB97.0 semapv:UnspecifiedMatching Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref icd11:LB97.0 semapv:UnspecifiedMatching Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref UMLS:C5679988 semapv:UnspecifiedMatching +Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref icd11:LB97.1 semapv:UnspecifiedMatching Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref icd11:LB97.1 semapv:UnspecifiedMatching Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:601776 semapv:UnspecifiedMatching Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615539 semapv:UnspecifiedMatching +Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching +Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref MESH:C538180 semapv:UnspecifiedMatching Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref UMLS:C2931761 semapv:UnspecifiedMatching Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref MESH:C538278 semapv:UnspecifiedMatching Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref OMIM:176305 semapv:UnspecifiedMatching Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref UMLS:C1867801 semapv:UnspecifiedMatching @@ -15444,14 +18107,18 @@ Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy synd Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C4304934 semapv:UnspecifiedMatching Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref MESH:C536422 semapv:UnspecifiedMatching Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref OMIM:176690 semapv:UnspecifiedMatching Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref UMLS:C1261128 semapv:UnspecifiedMatching +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:296 Ollier disease oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:296 Ollier disease oboInOwl:hasDbXref MESH:D004687 semapv:UnspecifiedMatching Orphanet:296 Ollier disease oboInOwl:hasDbXref MedDRA:10014642 semapv:UnspecifiedMatching Orphanet:296 Ollier disease oboInOwl:hasDbXref OMIM:166000 semapv:UnspecifiedMatching Orphanet:296 Ollier disease oboInOwl:hasDbXref UMLS:C0014084 semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref icd11:2E83.Z semapv:UnspecifiedMatching Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref MESH:C535990 semapv:UnspecifiedMatching @@ -15459,21 +18126,26 @@ Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref MedDRA:10083947 semapv:Unspec Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref UMLS:C0268354 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref MESH:C567360 semapv:UnspecifiedMatching Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref OMIM:612289 semapv:UnspecifiedMatching Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref UMLS:C2676780 semapv:UnspecifiedMatching Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref ICD10:K07.1 semapv:UnspecifiedMatching +Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref ICD10:K07.1 semapv:UnspecifiedMatching Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref OMIM:176700 semapv:UnspecifiedMatching Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref UMLS:C5680744 semapv:UnspecifiedMatching +Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref icd11:DA0E.1 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref MESH:D015175 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref MedDRA:10036832 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref UMLS:C0033375 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref icd11:2F37.Y semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref icd11:XH1QS0 semapv:UnspecifiedMatching Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref MESH:C537241 semapv:UnspecifiedMatching Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref OMIM:312060 semapv:UnspecifiedMatching Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref UMLS:C0398762 semapv:UnspecifiedMatching @@ -15493,17 +18165,23 @@ Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:612840 semap Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS:C5550999 semapv:UnspecifiedMatching Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref UMLS:C1866398 semapv:UnspecifiedMatching +Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.0 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.0 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.1 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.1 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.8 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.8 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.9 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.9 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref MESH:D004675 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref MedDRA:10043848 semapv:UnspecifiedMatching Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref UMLS:C0014061 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref icd11:1C80 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref ICD10:Q79.4 semapv:UnspecifiedMatching Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref ICD10:Q79.4 semapv:UnspecifiedMatching Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref MESH:D011535 semapv:UnspecifiedMatching Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref MedDRA:10051025 semapv:UnspecifiedMatching @@ -15511,17 +18189,22 @@ Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref OMIM:100100 semapv:Unspeci Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref UMLS:C0033770 semapv:UnspecifiedMatching Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref icd11:LD2F.10 semapv:UnspecifiedMatching Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MESH:C536662 semapv:UnspecifiedMatching Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref OMIM:264470 semapv:UnspecifiedMatching Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C1849678 semapv:UnspecifiedMatching +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching +Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref ICD10:K07.0 semapv:UnspecifiedMatching Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref ICD10:K07.0 semapv:UnspecifiedMatching Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref MESH:C537496 semapv:UnspecifiedMatching Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref OMIM:273050 semapv:UnspecifiedMatching Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref UMLS:C2931509 semapv:UnspecifiedMatching Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching +Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref UMLS:C4518078 semapv:UnspecifiedMatching Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching +Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:264270 semapv:UnspecifiedMatching Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4518077 semapv:UnspecifiedMatching Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching @@ -15530,11 +18213,14 @@ Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref ME Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref OMIM:169170 semapv:UnspecifiedMatching Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref UMLS:C1868546 semapv:UnspecifiedMatching Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:243180 semapv:UnspecifiedMatching Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:601223 semapv:UnspecifiedMatching Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:609629 semapv:UnspecifiedMatching Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C0238062 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref icd11:DA90.2 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref MedDRA:10065271 semapv:UnspecifiedMatching Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:603041 semapv:UnspecifiedMatching @@ -15553,8 +18239,11 @@ Orphanet:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref UMLS:C1533628 semapv: Orphanet:2982 46,XX difference of sex development oboInOwl:hasDbXref MESH:D058489 semapv:UnspecifiedMatching Orphanet:2982 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C2936403 semapv:UnspecifiedMatching Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref MESH:C537594 semapv:UnspecifiedMatching Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref UMLS:C2931542 semapv:UnspecifiedMatching +Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref icd11:8D80 semapv:UnspecifiedMatching +Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q56.3 semapv:UnspecifiedMatching Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q56.3 semapv:UnspecifiedMatching Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536539 semapv:UnspecifiedMatching Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref OMIM:600122 semapv:UnspecifiedMatching @@ -15566,6 +18255,7 @@ Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref OMIM:200130 semapv:Unsp Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref UMLS:C0796125 semapv:UnspecifiedMatching Orphanet:298644 Disorder of thiamine metabolism and transport oboInOwl:hasDbXref UMLS:C5681092 semapv:UnspecifiedMatching Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref MESH:C566738 semapv:UnspecifiedMatching Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref OMIM:178200 semapv:UnspecifiedMatching Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref UMLS:C1867439 semapv:UnspecifiedMatching @@ -15610,17 +18300,23 @@ Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref MESH:C537136 semapv:Un Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref MedDRA:10052621 semapv:UnspecifiedMatching Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref OMIM:258900 semapv:UnspecifiedMatching Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref UMLS:C0220987 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref icd11:3A03.0 semapv:UnspecifiedMatching +Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref OMIM:261515 semapv:UnspecifiedMatching Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref UMLS:C0342870 semapv:UnspecifiedMatching +Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MedDRA:10063654 semapv:UnspecifiedMatching Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref UMLS:C0342549 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref icd11:5A81.0 semapv:UnspecifiedMatching Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref OMIM:614557 semapv:UnspecifiedMatching +Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching @@ -15629,6 +18325,7 @@ Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref OMIM:188030 semapv:Unsp Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref UMLS:C0398650 semapv:UnspecifiedMatching Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref icd11:3B64.10 semapv:UnspecifiedMatching Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref OMIM:612394 semapv:UnspecifiedMatching Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref UMLS:C4706393 semapv:UnspecifiedMatching Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching @@ -15637,8 +18334,10 @@ Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis obo Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref OMIM:619324 semapv:UnspecifiedMatching Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref UMLS:C4751115 semapv:UnspecifiedMatching Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref OMIM:615234 semapv:UnspecifiedMatching Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref UMLS:C4511137 semapv:UnspecifiedMatching +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref icd11:3A72.00 semapv:UnspecifiedMatching Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref MESH:C536251 semapv:UnspecifiedMatching @@ -15648,14 +18347,17 @@ Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref icd11:FB82.Y semapv:Unspec Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref UMLS:C4749508 semapv:UnspecifiedMatching +Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.A semapv:UnspecifiedMatching Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref OMIM:614482 semapv:UnspecifiedMatching Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref UMLS:C4751114 semapv:UnspecifiedMatching Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref UMLS:C3280797 semapv:UnspecifiedMatching Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref MESH:C564707 semapv:UnspecifiedMatching Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref OMIM:606445 semapv:UnspecifiedMatching Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref UMLS:C1847973 semapv:UnspecifiedMatching @@ -15664,6 +18366,7 @@ Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:609057 semapv:UnspecifiedMatching Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5679989 semapv:UnspecifiedMatching Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C4750787 semapv:UnspecifiedMatching Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching @@ -15671,23 +18374,29 @@ Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation ob Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref OMIM:614468 semapv:UnspecifiedMatching Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref UMLS:C4722480 semapv:UnspecifiedMatching Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching +Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref OMIM:300942 semapv:UnspecifiedMatching Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref UMLS:C4751112 semapv:UnspecifiedMatching Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:616914 semapv:UnspecifiedMatching Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref UMLS:C4751111 semapv:UnspecifiedMatching Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref ICD10:C75.1 semapv:UnspecifiedMatching +Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref ICD10:C75.1 semapv:UnspecifiedMatching Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref UMLS:C0346300 semapv:UnspecifiedMatching Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref UMLS:C4275100 semapv:UnspecifiedMatching Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref UMLS:C5681093 semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref OMIM:300868 semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref UMLS:C4751110 semapv:UnspecifiedMatching Orphanet:3005 Pyle disease oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:3005 Pyle disease oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:3005 Pyle disease oboInOwl:hasDbXref MESH:C536252 semapv:UnspecifiedMatching Orphanet:3005 Pyle disease oboInOwl:hasDbXref OMIM:265900 semapv:UnspecifiedMatching Orphanet:3005 Pyle disease oboInOwl:hasDbXref UMLS:C0265294 semapv:UnspecifiedMatching @@ -15714,19 +18423,25 @@ Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatch Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref OMIM:614507 semapv:UnspecifiedMatching Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref UMLS:C3281084 semapv:UnspecifiedMatching Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:143880 semapv:UnspecifiedMatching Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:616963 semapv:UnspecifiedMatching Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref UMLS:C4329374 semapv:UnspecifiedMatching Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref UMLS:C4749906 semapv:UnspecifiedMatching Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching +Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref MedDRA:10048853 semapv:UnspecifiedMatching Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref UMLS:C0262401 semapv:UnspecifiedMatching +Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref icd11:2C16 semapv:UnspecifiedMatching +Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref MedDRA:10076515 semapv:UnspecifiedMatching Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref UMLS:C3872815 semapv:UnspecifiedMatching +Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref icd11:CB03.1 semapv:UnspecifiedMatching Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref OMIM:614039 semapv:UnspecifiedMatching @@ -15748,6 +18463,7 @@ Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 sema Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:266100 semapv:UnspecifiedMatching Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:617290 semapv:UnspecifiedMatching Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref UMLS:C1849508 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref icd11:8A61.0Y semapv:UnspecifiedMatching Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205100 semapv:UnspecifiedMatching @@ -15755,6 +18471,7 @@ Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:6 Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614373 semapv:UnspecifiedMatching Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C3468114 semapv:UnspecifiedMatching Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref UMLS:C4707865 semapv:UnspecifiedMatching Orphanet:300755 Laminopathy with striated muscle involvement oboInOwl:hasDbXref UMLS:C5681083 semapv:UnspecifiedMatching @@ -15762,37 +18479,52 @@ Orphanet:300758 Laminopathy with peripheral neuropathy oboInOwl:hasDbXref UMLS:C Orphanet:300763 Laminopathy with lipodystrophy oboInOwl:hasDbXref UMLS:C5681084 semapv:UnspecifiedMatching Orphanet:300766 Laminopathy with premature aging oboInOwl:hasDbXref UMLS:C5567864 semapv:UnspecifiedMatching Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MESH:D015324 semapv:UnspecifiedMatching Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MedDRA:10077944 semapv:UnspecifiedMatching Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref UMLS:C0034341 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref icd11:5C53.03 semapv:UnspecifiedMatching Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C5419078 semapv:UnspecifiedMatching Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C5555120 semapv:UnspecifiedMatching Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref UMLS:C2026186 semapv:UnspecifiedMatching Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref icd11:2A81.5 semapv:UnspecifiedMatching Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref UMLS:C1321547 semapv:UnspecifiedMatching Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref icd11:2A81.4 semapv:UnspecifiedMatching Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref icd11:XH0WP6 semapv:UnspecifiedMatching Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref MESH:D054446 semapv:UnspecifiedMatching Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref MedDRA:10065863 semapv:UnspecifiedMatching Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1301362 semapv:UnspecifiedMatching +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:2B03.0 semapv:UnspecifiedMatching Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref UMLS:C2699508 semapv:UnspecifiedMatching +Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref icd11:2A82.Y semapv:UnspecifiedMatching +Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref icd11:XH99V9 semapv:UnspecifiedMatching Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref MedDRA:10019054 semapv:UnspecifiedMatching Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref UMLS:C0349633 semapv:UnspecifiedMatching Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref icd11:2A82.3 semapv:UnspecifiedMatching Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref UMLS:C4511460 semapv:UnspecifiedMatching Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching +Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1332079 semapv:UnspecifiedMatching +Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:2A90.A semapv:UnspecifiedMatching +Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:XH9484 semapv:UnspecifiedMatching +Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1332078 semapv:UnspecifiedMatching +Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:2A90.B semapv:UnspecifiedMatching +Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:XH9T74 semapv:UnspecifiedMatching Orphanet:300912 Marginal zone lymphoma oboInOwl:hasDbXref MESH:D018442 semapv:UnspecifiedMatching Orphanet:300912 Marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0242647 semapv:UnspecifiedMatching Orphanet:301 Ependymal tumor oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching @@ -15803,6 +18535,7 @@ Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref MESH:C536259 semapv:Un Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref OMIM:600096 semapv:UnspecifiedMatching Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref UMLS:C2931142 semapv:UnspecifiedMatching Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching +Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270950 semapv:UnspecifiedMatching Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4509974 semapv:UnspecifiedMatching Orphanet:3015 Radio-renal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -15827,6 +18560,7 @@ Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref OMIM:266270 semapv:UnspecifiedMa Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref UMLS:C0796133 semapv:UnspecifiedMatching Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MedDRA:10052339 semapv:UnspecifiedMatching Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:226400 semapv:UnspecifiedMatching @@ -15837,8 +18571,12 @@ Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618309 sema Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref icd11:1E83 semapv:UnspecifiedMatching Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ semapv:UnspecifiedMatching +Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ semapv:UnspecifiedMatching +Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:G53.0* semapv:UnspecifiedMatching Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:G53.0* semapv:UnspecifiedMatching Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref UMLS:C0017409 semapv:UnspecifiedMatching +Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref icd11:8B88.Y semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref MESH:C535288 semapv:UnspecifiedMatching Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref MedDRA:10088963 semapv:UnspecifiedMatching @@ -15872,15 +18610,20 @@ Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref MESH:D016108 se Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079294 semapv:UnspecifiedMatching Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching +Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref UMLS:C2673885 semapv:UnspecifiedMatching Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref OMIM:267430 semapv:UnspecifiedMatching Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref UMLS:C0266313 semapv:UnspecifiedMatching +Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref icd11:LB30.3 semapv:UnspecifiedMatching +Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref MESH:C563592 semapv:UnspecifiedMatching Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref OMIM:155980 semapv:UnspecifiedMatching Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref UMLS:C1835030 semapv:UnspecifiedMatching +Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref icd11:LB70.Y semapv:UnspecifiedMatching Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref MESH:C535406 semapv:UnspecifiedMatching @@ -15892,6 +18635,7 @@ Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndro Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref OMIM:182875 semapv:UnspecifiedMatching Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref UMLS:C2931119 semapv:UnspecifiedMatching Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMatching Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref MedDRA:10004654 semapv:UnspecifiedMatching Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref OMIM:210500 semapv:UnspecifiedMatching @@ -15909,6 +18653,7 @@ Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndro Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref MESH:C536638 semapv:UnspecifiedMatching Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref OMIM:300977 semapv:UnspecifiedMatching Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref UMLS:C1866985 semapv:UnspecifiedMatching +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref MESH:C536420 semapv:UnspecifiedMatching @@ -15929,6 +18674,7 @@ Orphanet:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref MESH:D016109 se Orphanet:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079301 semapv:UnspecifiedMatching Orphanet:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref MESH:C536116 semapv:UnspecifiedMatching Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref OMIM:601358 semapv:UnspecifiedMatching Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref UMLS:C1303073 semapv:UnspecifiedMatching @@ -15942,13 +18688,16 @@ Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-s Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref MESH:C536715 semapv:UnspecifiedMatching Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref UMLS:C0796264 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref MESH:C563156 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref MedDRA:10081371 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref OMIM:300615 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref UMLS:C0796275 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref icd11:5C59.0Y semapv:UnspecifiedMatching Orphanet:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:601764 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:605751 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching @@ -15975,6 +18724,7 @@ Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXre Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref OMIM:613647 semapv:UnspecifiedMatching Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref UMLS:C3150901 semapv:UnspecifiedMatching Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis oboInOwl:hasDbXref UMLS:C5679977 semapv:UnspecifiedMatching Orphanet:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -15999,8 +18749,10 @@ Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref OMIM:613759 sem Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref UMLS:C4509831 semapv:UnspecifiedMatching Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching Orphanet:306553 Myospherulosis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching +Orphanet:306553 Myospherulosis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching Orphanet:306553 Myospherulosis oboInOwl:hasDbXref UMLS:C0027123 semapv:UnspecifiedMatching Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:614231 semapv:UnspecifiedMatching Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:619278 semapv:UnspecifiedMatching Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref UMLS:C5190632 semapv:UnspecifiedMatching @@ -16021,6 +18773,7 @@ Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref MESH:C566473 semapv:UnspecifiedMatching Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref UMLS:C1864861 semapv:UnspecifiedMatching +Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref icd11:5C64.5 semapv:UnspecifiedMatching Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching @@ -16029,7 +18782,9 @@ Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref UMLS:C5679978 semapv:UnspecifiedMatching Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681086 semapv:UnspecifiedMatching Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref UMLS:C4545231 semapv:UnspecifiedMatching +Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref icd11:8A00.21 semapv:UnspecifiedMatching Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref MESH:C537177 semapv:UnspecifiedMatching @@ -16041,6 +18796,7 @@ Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref ICD10:T57.2 semapv:Unspec Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref MESH:D020149 semapv:UnspecifiedMatching Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref MedDRA:10058951 semapv:UnspecifiedMatching Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref UMLS:C0677050 semapv:UnspecifiedMatching +Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref UMLS:C0393565 semapv:UnspecifiedMatching @@ -16057,6 +18813,7 @@ Orphanet:306727 Postinfectious autoimmune disease with chorea oboInOwl:hasDbXref Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.0 semapv:UnspecifiedMatching Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.0 semapv:UnspecifiedMatching Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.9 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.9 semapv:UnspecifiedMatching Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref MedDRA:10042732 semapv:UnspecifiedMatching Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref UMLS:C0152113 semapv:UnspecifiedMatching Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref icd11:1B42 semapv:UnspecifiedMatching @@ -16065,6 +18822,7 @@ Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref ICD10:G24.1 sema Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref OMIM:614588 semapv:UnspecifiedMatching Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref UMLS:C3281236 semapv:UnspecifiedMatching Orphanet:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref UMLS:C4510649 semapv:UnspecifiedMatching Orphanet:306747 Rare myoclonus oboInOwl:hasDbXref UMLS:C5681067 semapv:UnspecifiedMatching Orphanet:306750 Primary myoclonus oboInOwl:hasDbXref UMLS:C5681052 semapv:UnspecifiedMatching @@ -16076,6 +18834,7 @@ Orphanet:306768 Rare paroxysmal movement disorder oboInOwl:hasDbXref UMLS:C56810 Orphanet:306773 Hyperekplexia oboInOwl:hasDbXref MESH:D000071017 semapv:UnspecifiedMatching Orphanet:306773 Hyperekplexia oboInOwl:hasDbXref MedDRA:10058271 semapv:UnspecifiedMatching Orphanet:306776 Sporadic hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:306776 Sporadic hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:306776 Sporadic hyperekplexia oboInOwl:hasDbXref UMLS:C5191042 semapv:UnspecifiedMatching Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -16084,6 +18843,7 @@ Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect sy Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref UMLS:C1854663 semapv:UnspecifiedMatching Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 semapv:UnspecifiedMatching Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MedDRA:10071082 semapv:UnspecifiedMatching Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching @@ -16097,6 +18857,7 @@ Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:613060 semapv:U Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:614280 semapv:UnspecifiedMatching Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:617924 semapv:UnspecifiedMatching Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0270853 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref icd11:8A61.30 semapv:UnspecifiedMatching Orphanet:307052 Rare genetic parkinsonian disorder oboInOwl:hasDbXref UMLS:C5679955 semapv:UnspecifiedMatching Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681055 semapv:UnspecifiedMatching Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681056 semapv:UnspecifiedMatching @@ -16118,11 +18879,13 @@ Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboIn Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboInOwl:hasDbXref UMLS:C4749650 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10:F71.1 semapv:UnspecifiedMatching +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10:F71.1 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref OMIM:300055 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref UMLS:C3713418 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679958 semapv:UnspecifiedMatching Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref MESH:C536220 semapv:UnspecifiedMatching Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref OMIM:607656 semapv:UnspecifiedMatching Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref UMLS:C1843291 semapv:UnspecifiedMatching @@ -16144,6 +18907,7 @@ Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref OMIM Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref UMLS:C0796080 semapv:UnspecifiedMatching Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref MESH:C564357 semapv:UnspecifiedMatching Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607658 semapv:UnspecifiedMatching Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C1843285 semapv:UnspecifiedMatching @@ -16151,12 +18915,14 @@ Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma Orphanet:307967 Punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1274216 semapv:UnspecifiedMatching Orphanet:307995 Marginal papular palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679964 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MESH:D020194 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MedDRA:10054895 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:254800 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:612437 semapv:UnspecifiedMatching Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref UMLS:C0751785 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref MESH:C537448 semapv:UnspecifiedMatching @@ -16164,23 +18930,28 @@ Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref OMIM:277990 Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref UMLS:C1848439 semapv:UnspecifiedMatching Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref UMLS:C1302839 semapv:UnspecifiedMatching Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679965 semapv:UnspecifiedMatching Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679967 semapv:UnspecifiedMatching Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679966 semapv:UnspecifiedMatching Orphanet:308166 Erythrokeratoderma variabilis progressiva oboInOwl:hasDbXref UMLS:C5681068 semapv:UnspecifiedMatching Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref MESH:C537615 semapv:UnspecifiedMatching Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref UMLS:C2931547 semapv:UnspecifiedMatching Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref UMLS:C5679956 semapv:UnspecifiedMatching Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS:C5679957 semapv:UnspecifiedMatching Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref MESH:C565373 semapv:UnspecifiedMatching Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS:C1854989 semapv:UnspecifiedMatching @@ -16190,6 +18961,7 @@ Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref ICD10:Q87.8 Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref OMIM:268050 semapv:UnspecifiedMatching Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref UMLS:C0796072 semapv:UnspecifiedMatching Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref MESH:C565374 semapv:UnspecifiedMatching Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref UMLS:C1854990 semapv:UnspecifiedMatching @@ -16213,15 +18985,19 @@ Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboIn Orphanet:308448 Aminoacylase deficiency oboInOwl:hasDbXref UMLS:C5681074 semapv:UnspecifiedMatching Orphanet:308459 Disorder of glycolysis oboInOwl:hasDbXref UMLS:C5681073 semapv:UnspecifiedMatching Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref UMLS:C0342744 semapv:UnspecifiedMatching Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref icd11:5C51.5 semapv:UnspecifiedMatching Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref UMLS:C0342745 semapv:UnspecifiedMatching Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref icd11:5C51.4 semapv:UnspecifiedMatching Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -16230,6 +19006,7 @@ Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C5679580 semapv:UnspecifiedMatching Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C5679973 semapv:UnspecifiedMatching Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref UMLS:C3888924 semapv:UnspecifiedMatching Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching @@ -16238,29 +19015,36 @@ Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref IC Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 semapv:UnspecifiedMatching Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS:C3888099 semapv:UnspecifiedMatching +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref UMLS:C5679972 semapv:UnspecifiedMatching Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref UMLS:C5679971 semapv:UnspecifiedMatching Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref MESH:C565541 semapv:UnspecifiedMatching Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref UMLS:C1856303 semapv:UnspecifiedMatching Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref MESH:C565542 semapv:UnspecifiedMatching Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref UMLS:C1856304 semapv:UnspecifiedMatching Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref UMLS:C5679969 semapv:UnspecifiedMatching Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref MESH:C565543 semapv:UnspecifiedMatching Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref UMLS:C1856305 semapv:UnspecifiedMatching @@ -16268,10 +19052,12 @@ Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme defici Orphanet:3087 Retinohepatoendocrinologic syndrome oboInOwl:hasDbXref OMIM:268040 semapv:UnspecifiedMatching Orphanet:3087 Retinohepatoendocrinologic syndrome oboInOwl:hasDbXref UMLS:C1849399 semapv:UnspecifiedMatching Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref UMLS:C5679968 semapv:UnspecifiedMatching Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref MESH:C538371 semapv:UnspecifiedMatching Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref OMIM:268130 semapv:UnspecifiedMatching Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref UMLS:C1327916 semapv:UnspecifiedMatching @@ -16282,6 +19068,7 @@ Orphanet:309 Familial partial epilepsy oboInOwl:hasDbXref UMLS:C5680862 semapv:U Orphanet:3090 Congenital pulmonary venous return anomaly oboInOwl:hasDbXref MedDRA:10058079 semapv:UnspecifiedMatching Orphanet:3090 Congenital pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C0265916 semapv:UnspecifiedMatching Orphanet:309001 Disorder of carbohydrate absorption and transport oboInOwl:hasDbXref UMLS:C5681069 semapv:UnspecifiedMatching +Orphanet:309001 Disorder of carbohydrate absorption and transport oboInOwl:hasDbXref icd11:5C61 semapv:UnspecifiedMatching Orphanet:309005 Disorder of lipid metabolism oboInOwl:hasDbXref MESH:D052439 semapv:UnspecifiedMatching Orphanet:309005 Disorder of lipid metabolism oboInOwl:hasDbXref MedDRA:10061227 semapv:UnspecifiedMatching Orphanet:309005 Disorder of lipid metabolism oboInOwl:hasDbXref UMLS:C0154251 semapv:UnspecifiedMatching @@ -16289,10 +19076,12 @@ Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10: Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching +Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref icd11:5C80.1 semapv:UnspecifiedMatching Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C0268199 semapv:UnspecifiedMatching +Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref icd11:5C80.1 semapv:UnspecifiedMatching Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref MESH:D054078 semapv:UnspecifiedMatching @@ -16300,22 +19089,32 @@ Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref MedDRA:10072221 Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref OMIM:260920 semapv:UnspecifiedMatching Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref UMLS:C0342731 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref icd11:5C52.10 semapv:UnspecifiedMatching Orphanet:309028 Disorder of lipid absorption and transport oboInOwl:hasDbXref UMLS:C5681072 semapv:UnspecifiedMatching +Orphanet:309028 Disorder of lipid absorption and transport oboInOwl:hasDbXref icd11:5C62 semapv:UnspecifiedMatching +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref UMLS:C0268240 semapv:UnspecifiedMatching +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref icd11:5C62 semapv:UnspecifiedMatching Orphanet:3091 Congenital systemic veins anomaly oboInOwl:hasDbXref UMLS:C5680873 semapv:UnspecifiedMatching Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching +Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref UMLS:C0268241 semapv:UnspecifiedMatching +Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref icd11:5C62 semapv:UnspecifiedMatching +Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref UMLS:C4706317 semapv:UnspecifiedMatching +Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref icd11:5C62 semapv:UnspecifiedMatching Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis oboInOwl:hasDbXref UMLS:C5681071 semapv:UnspecifiedMatching +Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching Orphanet:309120 Acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268635 semapv:UnspecifiedMatching Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535310 semapv:UnspecifiedMatching Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1291230 semapv:UnspecifiedMatching Orphanet:309130 Disorder of carnitine cycle and carnitine transport oboInOwl:hasDbXref UMLS:C5681080 semapv:UnspecifiedMatching +Orphanet:309130 Disorder of carnitine cycle and carnitine transport oboInOwl:hasDbXref icd11:5C52.00 semapv:UnspecifiedMatching Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder oboInOwl:hasDbXref UMLS:C5681079 semapv:UnspecifiedMatching Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes oboInOwl:hasDbXref UMLS:C5681078 semapv:UnspecifiedMatching Orphanet:309144 Gangliosidosis oboInOwl:hasDbXref MESH:D005733 semapv:UnspecifiedMatching @@ -16328,43 +19127,54 @@ Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref OMIM:237400 semapv:Unsp Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref UMLS:C0268630 semapv:UnspecifiedMatching Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref MESH:D020143 semapv:UnspecifiedMatching Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref MedDRA:10083933 semapv:UnspecifiedMatching Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref UMLS:C0268274 semapv:UnspecifiedMatching Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref UMLS:C0751490 semapv:UnspecifiedMatching Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref UMLS:C0751491 semapv:UnspecifiedMatching Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref UMLS:C0751489 semapv:UnspecifiedMatching Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref UMLS:C5679976 semapv:UnspecifiedMatching Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref UMLS:C5679975 semapv:UnspecifiedMatching Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref UMLS:C1848914 semapv:UnspecifiedMatching Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching +Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref UMLS:C5680877 semapv:UnspecifiedMatching +Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref icd11:LA8A.5 semapv:UnspecifiedMatching +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref MESH:C566593 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref OMIM:602014 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref UMLS:C1865974 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 semapv:UnspecifiedMatching Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching @@ -16375,52 +19185,66 @@ Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:304 Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref UMLS:C5680110 semapv:UnspecifiedMatching Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref MESH:C566435 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref UMLS:C1864651 semapv:UnspecifiedMatching +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref UMLS:C0751278 semapv:UnspecifiedMatching Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref UMLS:C0751276 semapv:UnspecifiedMatching Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref UMLS:C0751279 semapv:UnspecifiedMatching Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching Orphanet:309279 Glycoproteinosis oboInOwl:hasDbXref UMLS:C5681075 semapv:UnspecifiedMatching +Orphanet:309279 Glycoproteinosis oboInOwl:hasDbXref icd11:5C56.2 semapv:UnspecifiedMatching +Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref UMLS:C5679974 semapv:UnspecifiedMatching Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:309294 Sialidosis oboInOwl:hasDbXref MedDRA:10058800 semapv:UnspecifiedMatching Orphanet:309294 Sialidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref UMLS:C0086651 semapv:UnspecifiedMatching Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching +Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref MedDRA:10010371 semapv:UnspecifiedMatching Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref UMLS:C0152417 semapv:UnspecifiedMatching Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref icd11:LA8A.20 semapv:UnspecifiedMatching Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref UMLS:C0086652 semapv:UnspecifiedMatching Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching Orphanet:309319 Disorder of sialic acid metabolism oboInOwl:hasDbXref UMLS:C0342851 semapv:UnspecifiedMatching +Orphanet:309319 Disorder of sialic acid metabolism oboInOwl:hasDbXref icd11:5C56.4 semapv:UnspecifiedMatching Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref MedDRA:10067532 semapv:UnspecifiedMatching Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching +Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref icd11:5C56.4 semapv:UnspecifiedMatching Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref UMLS:C5681076 semapv:UnspecifiedMatching +Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref icd11:5C56.4 semapv:UnspecifiedMatching Orphanet:309334 Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:309334 Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:309334 Salla disease oboInOwl:hasDbXref MedDRA:10067531 semapv:UnspecifiedMatching @@ -16437,6 +19261,7 @@ Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis oboInOwl:ha Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis oboInOwl:hasDbXref UMLS:C5681048 semapv:UnspecifiedMatching Orphanet:309469 Disorder of O-mannosylglycan synthesis oboInOwl:hasDbXref UMLS:C5681045 semapv:UnspecifiedMatching Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref MESH:C567576 semapv:UnspecifiedMatching Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching @@ -16444,6 +19269,7 @@ Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:Unspe Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617903 semapv:UnspecifiedMatching Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617904 semapv:UnspecifiedMatching Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref UMLS:C2748910 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:309505 Disorder of fucoglycosan synthesis oboInOwl:hasDbXref UMLS:C5681046 semapv:UnspecifiedMatching Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation oboInOwl:hasDbXref UMLS:C5679954 semapv:UnspecifiedMatching Orphanet:309526 Disorder of multiple glycosylation oboInOwl:hasDbXref UMLS:C5681039 semapv:UnspecifiedMatching @@ -16463,23 +19289,32 @@ Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref UMLS:C1837026 semapv:Unspecifi Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:309778 Defect in V-ATPase oboInOwl:hasDbXref UMLS:C5681038 semapv:UnspecifiedMatching Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref MESH:C531651 semapv:UnspecifiedMatching Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref UMLS:C1859133 semapv:UnspecifiedMatching +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref MESH:C537607 semapv:UnspecifiedMatching Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref UMLS:C1857242 semapv:UnspecifiedMatching +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching +Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref MESH:C537611 semapv:UnspecifiedMatching Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref OMIM:268250 semapv:UnspecifiedMatching Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref UMLS:C4749613 semapv:UnspecifiedMatching Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref MESH:C537608 semapv:UnspecifiedMatching Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref UMLS:C1838612 semapv:UnspecifiedMatching +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation oboInOwl:hasDbXref UMLS:C5681040 semapv:UnspecifiedMatching +Orphanet:309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching Orphanet:309816 Disorder of bilirubin metabolism and excretion oboInOwl:hasDbXref UMLS:C0349427 semapv:UnspecifiedMatching +Orphanet:309816 Disorder of bilirubin metabolism and excretion oboInOwl:hasDbXref icd11:5C58.0 semapv:UnspecifiedMatching Orphanet:309819 Disorder of pterin metabolism oboInOwl:hasDbXref UMLS:C5681034 semapv:UnspecifiedMatching Orphanet:309819 Disorder of pterin metabolism oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching Orphanet:309824 Disorder of metabolite absorption and transport oboInOwl:hasDbXref UMLS:C5681033 semapv:UnspecifiedMatching @@ -16496,11 +19331,14 @@ Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref MedDRA:10061091 Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref UMLS:C0012714 semapv:UnspecifiedMatching Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref icd11:5C64.0 semapv:UnspecifiedMatching Orphanet:309842 Disorder of iron metabolism and transport oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:309842 Disorder of iron metabolism and transport oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:309842 Disorder of iron metabolism and transport oboInOwl:hasDbXref UMLS:C5681031 semapv:UnspecifiedMatching Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref MedDRA:10048260 semapv:UnspecifiedMatching Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref UMLS:C0268085 semapv:UnspecifiedMatching Orphanet:309848 Disorder of magnesium transport oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:309848 Disorder of magnesium transport oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:309848 Disorder of magnesium transport oboInOwl:hasDbXref UMLS:C5681030 semapv:UnspecifiedMatching Orphanet:309851 Disorder of manganese transport oboInOwl:hasDbXref UMLS:C5681032 semapv:UnspecifiedMatching Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -16509,6 +19347,7 @@ Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboIn Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:613280 semapv:UnspecifiedMatching Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref UMLS:C2750442 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I00 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I00 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.0 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.0 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.1 semapv:UnspecifiedMatching @@ -16516,6 +19355,8 @@ Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.1 semapv:UnspecifiedM Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.2 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.2 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.8 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.8 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.9 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.9 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref MESH:D012213 semapv:UnspecifiedMatching Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref MedDRA:10039054 semapv:UnspecifiedMatching @@ -16531,6 +19372,7 @@ Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref UMLS:C2752074 semapv:Unspeci Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref icd11:5C53.1 semapv:UnspecifiedMatching Orphanet:310 Reflex epilepsy oboInOwl:hasDbXref MESH:D020195 semapv:UnspecifiedMatching Orphanet:310 Reflex epilepsy oboInOwl:hasDbXref UMLS:C0270857 semapv:UnspecifiedMatching +Orphanet:310 Reflex epilepsy oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:310050 Acquired immunodeficiency oboInOwl:hasDbXref MESH:D000163 semapv:UnspecifiedMatching Orphanet:310050 Acquired immunodeficiency oboInOwl:hasDbXref UMLS:C0001175 semapv:UnspecifiedMatching Orphanet:310050 Acquired immunodeficiency oboInOwl:hasDbXref icd11:4A20 semapv:UnspecifiedMatching @@ -16546,6 +19388,7 @@ Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref OMIM:268305 sem Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref UMLS:C1849348 semapv:UnspecifiedMatching Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref MedDRA:10084326 semapv:UnspecifiedMatching Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching @@ -16557,54 +19400,69 @@ Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref MESH:C5356 Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref OMIM:172880 semapv:UnspecifiedMatching Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref UMLS:C4749398 semapv:UnspecifiedMatching Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref OMIM:248250 semapv:UnspecifiedMatching Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching Orphanet:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref MESH:C537183 semapv:UnspecifiedMatching Orphanet:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching Orphanet:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref UMLS:C1867146 semapv:UnspecifiedMatching Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref UMLS:C5200540 semapv:UnspecifiedMatching Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref MedDRA:10065148 semapv:UnspecifiedMatching Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref UMLS:C1698581 semapv:UnspecifiedMatching Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref icd11:LB44.Y semapv:UnspecifiedMatching Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref MESH:C535870 semapv:UnspecifiedMatching Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref OMIM:180730 semapv:UnspecifiedMatching Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref UMLS:C1867147 semapv:UnspecifiedMatching Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching +Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref MedDRA:10039234 semapv:UnspecifiedMatching Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref OMIM:237450 semapv:UnspecifiedMatching Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref UMLS:C0220991 semapv:UnspecifiedMatching +Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref icd11:5C58.0Y semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:C538219 semapv:UnspecifiedMatching Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MedDRA:10057070 semapv:UnspecifiedMatching Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS:C0392784 semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref icd11:2B53.Y semapv:UnspecifiedMatching Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref MESH:C536307 semapv:UnspecifiedMatching Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref OMIM:168850 semapv:UnspecifiedMatching Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref UMLS:C1868581 semapv:UnspecifiedMatching Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref icd11:EA91.41 semapv:UnspecifiedMatching +Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref OMIM:180800 semapv:UnspecifiedMatching Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref UMLS:C0205713 semapv:UnspecifiedMatching +Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching Orphanet:31150 Tangier disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:31150 Tangier disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:31150 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching Orphanet:31150 Tangier disease oboInOwl:hasDbXref MedDRA:10051875 semapv:UnspecifiedMatching Orphanet:31150 Tangier disease oboInOwl:hasDbXref OMIM:205400 semapv:UnspecifiedMatching Orphanet:31150 Tangier disease oboInOwl:hasDbXref UMLS:C0039292 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref icd11:5C81.0 semapv:UnspecifiedMatching Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MESH:D052456 semapv:UnspecifiedMatching Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MedDRA:10065156 semapv:UnspecifiedMatching Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref UMLS:C0473527 semapv:UnspecifiedMatching +Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref icd11:5C81.0 semapv:UnspecifiedMatching Orphanet:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref MESH:D006995 semapv:UnspecifiedMatching Orphanet:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020597 semapv:UnspecifiedMatching +Orphanet:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref icd11:5C81.1 semapv:UnspecifiedMatching Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref OMIM:268650 semapv:UnspecifiedMatching @@ -16615,9 +19473,14 @@ Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref MESH Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:113800 semapv:UnspecifiedMatching Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 semapv:UnspecifiedMatching Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0079153 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.1 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.1 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.2 semapv:UnspecifiedMatching Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.2 semapv:UnspecifiedMatching Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.3 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.3 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.4 semapv:UnspecifiedMatching Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.4 semapv:UnspecifiedMatching Orphanet:31202 Melioidosis oboInOwl:hasDbXref MESH:D008554 semapv:UnspecifiedMatching Orphanet:31202 Melioidosis oboInOwl:hasDbXref MedDRA:10069748 semapv:UnspecifiedMatching @@ -16627,6 +19490,7 @@ Orphanet:31202 Melioidosis oboInOwl:hasDbXref icd11:1C42 semapv:UnspecifiedMatch Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.0 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.0 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.1 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.1 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.8 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.8 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.9 semapv:UnspecifiedMatching @@ -16634,14 +19498,20 @@ Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.9 semapv:UnspecifiedMatc Orphanet:31204 Nocardiosis oboInOwl:hasDbXref MESH:D009617 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref MedDRA:10029444 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref UMLS:C0028242 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref icd11:1C1B semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref icd11:1C1B.0 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref icd11:1C1B.1 semapv:UnspecifiedMatching Orphanet:31204 Nocardiosis oboInOwl:hasDbXref icd11:1C1B.Y semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.9 semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.9 semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref MESH:D011906 semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref MedDRA:10037904 semapv:UnspecifiedMatching Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref UMLS:C0034686 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref icd11:1B90 semapv:UnspecifiedMatching Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref MESH:C579395 semapv:UnspecifiedMatching @@ -16651,11 +19521,13 @@ Orphanet:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref MESH:C53632 Orphanet:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref OMIM:211390 semapv:UnspecifiedMatching Orphanet:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref UMLS:C0796271 semapv:UnspecifiedMatching Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref MESH:C537218 semapv:UnspecifiedMatching Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref OMIM:268700 semapv:UnspecifiedMatching Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref UMLS:C0268556 semapv:UnspecifiedMatching Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref MESH:C537236 semapv:UnspecifiedMatching Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref MedDRA:10059299 semapv:UnspecifiedMatching Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching @@ -16673,6 +19545,8 @@ Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:606545 semapv:Unspecifi Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:613943 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:617571 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching +Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref MESH:C536616 semapv:UnspecifiedMatching Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref MedDRA:10070579 semapv:UnspecifiedMatching @@ -16685,12 +19559,15 @@ Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref OMIM:251240 semapv:U Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref UMLS:C2931267 semapv:UnspecifiedMatching Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref MESH:C536625 semapv:UnspecifiedMatching Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref OMIM:312830 semapv:UnspecifiedMatching Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref UMLS:C1839321 semapv:UnspecifiedMatching +Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching @@ -16707,6 +19584,7 @@ Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref MESH:C567101 semapv:Unspecifie Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref OMIM:251255 semapv:UnspecifiedMatching Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref UMLS:C0796063 semapv:UnspecifiedMatching Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MESH:C536937 semapv:UnspecifiedMatching Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MedDRA:10084409 semapv:UnspecifiedMatching Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref OMIM:181450 semapv:UnspecifiedMatching @@ -16715,6 +19593,7 @@ Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:Uns Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref OMIM:614979 semapv:UnspecifiedMatching Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref UMLS:C4749914 semapv:UnspecifiedMatching Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref MESH:C580150 semapv:UnspecifiedMatching Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref UMLS:C3711381 semapv:UnspecifiedMatching @@ -16733,6 +19612,7 @@ Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref ICD Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref OMIM:614559 semapv:UnspecifiedMatching Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref UMLS:C3281192 semapv:UnspecifiedMatching Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref UMLS:C4755261 semapv:UnspecifiedMatching Orphanet:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -16744,6 +19624,7 @@ Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:h Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref OMIM:616803 semapv:UnspecifiedMatching Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref UMLS:C4749915 semapv:UnspecifiedMatching Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref ICD10:Q45.2 semapv:UnspecifiedMatching +Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref ICD10:Q45.2 semapv:UnspecifiedMatching Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref UMLS:C0341480 semapv:UnspecifiedMatching Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref icd11:LB21.Y semapv:UnspecifiedMatching Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching @@ -16762,9 +19643,14 @@ Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 semapv:Un Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 semapv:UnspecifiedMatching Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref UMLS:C5551904 semapv:UnspecifiedMatching +Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref icd11:EH40.2 semapv:UnspecifiedMatching Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching @@ -16781,9 +19667,11 @@ Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref ICD1 Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref UMLS:C4751438 semapv:UnspecifiedMatching Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref OMIM:619182 semapv:UnspecifiedMatching Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref UMLS:C1868001 semapv:UnspecifiedMatching Orphanet:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C5190607 semapv:UnspecifiedMatching Orphanet:314034 7p22.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:314034 7p22.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching @@ -16796,10 +19684,12 @@ Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactat Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref OMIM:614924 semapv:UnspecifiedMatching Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref UMLS:C4706421 semapv:UnspecifiedMatching Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref OMIM:269200 semapv:UnspecifiedMatching Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref UMLS:C0085860 semapv:UnspecifiedMatching Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref OMIM:614616 semapv:UnspecifiedMatching Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref UMLS:C5191644 semapv:UnspecifiedMatching Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref ICD10:P76.0 semapv:UnspecifiedMatching @@ -16814,6 +19704,7 @@ Orphanet:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 s Orphanet:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref UMLS:C4707094 semapv:UnspecifiedMatching Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:614813 semapv:UnspecifiedMatching Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C3542022 semapv:UnspecifiedMatching Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching @@ -16837,29 +19728,38 @@ Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedM Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref MESH:D000564 semapv:UnspecifiedMatching Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref MedDRA:10066796 semapv:UnspecifiedMatching Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref UMLS:C0002448 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:2B5J semapv:UnspecifiedMatching Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:2E83.1 semapv:UnspecifiedMatching Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:XH1SV4 semapv:UnspecifiedMatching Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:XH96J9 semapv:UnspecifiedMatching Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref ICD10:C41.1 semapv:UnspecifiedMatching +Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref ICD10:C41.1 semapv:UnspecifiedMatching Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref MedDRA:10083863 semapv:UnspecifiedMatching Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref UMLS:C1314678 semapv:UnspecifiedMatching +Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref icd11:2B5J semapv:UnspecifiedMatching Orphanet:314425 Rare odontogenic tumor oboInOwl:hasDbXref UMLS:C5681049 semapv:UnspecifiedMatching Orphanet:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching Orphanet:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching Orphanet:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751074 semapv:UnspecifiedMatching Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref MESH:D008539 semapv:UnspecifiedMatching Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref MedDRA:10027139 semapv:UnspecifiedMatching Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref UMLS:C0025184 semapv:UnspecifiedMatching +Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref icd11:2F32.2 semapv:UnspecifiedMatching Orphanet:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching Orphanet:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching Orphanet:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref UMLS:C5190824 semapv:UnspecifiedMatching Orphanet:314466 Atypical Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314466 Atypical Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314466 Atypical Meigs syndrome oboInOwl:hasDbXref UMLS:C5190605 semapv:UnspecifiedMatching Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref MESH:C562391 semapv:UnspecifiedMatching Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref MedDRA:10064257 semapv:UnspecifiedMatching Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref UMLS:C0149951 semapv:UnspecifiedMatching +Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref icd11:2F32.1 semapv:UnspecifiedMatching +Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref UMLS:C4707356 semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching @@ -16868,22 +19768,27 @@ Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:ha Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:619216 semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C4749918 semapv:UnspecifiedMatching Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:221995 semapv:UnspecifiedMatching Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5680732 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref MESH:C566988 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref OMIM:611174 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C1970027 semapv:UnspecifiedMatching Orphanet:314566 Primary progressive apraxia of speech oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:314566 Primary progressive apraxia of speech oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4749919 semapv:UnspecifiedMatching Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751073 semapv:UnspecifiedMatching Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref OMIM:614846 semapv:UnspecifiedMatching Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref UMLS:C4749920 semapv:UnspecifiedMatching +Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:314588 Distal triplication 15q oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:314588 Distal triplication 15q oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:314588 Distal triplication 15q oboInOwl:hasDbXref OMIM:614846 semapv:UnspecifiedMatching @@ -16902,8 +19807,10 @@ Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref ICD10:D48.7 semapv: Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref MedDRA:10085759 semapv:UnspecifiedMatching Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref UMLS:C3891714 semapv:UnspecifiedMatching Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching +Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref UMLS:C4755258 semapv:UnspecifiedMatching Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C5230619 semapv:UnspecifiedMatching Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -16911,15 +19818,19 @@ Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis d Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref OMIM:614702 semapv:UnspecifiedMatching Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref UMLS:C4749921 semapv:UnspecifiedMatching Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref OMIM:614756 semapv:UnspecifiedMatching Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref UMLS:C4509917 semapv:UnspecifiedMatching Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref UMLS:C4302669 semapv:UnspecifiedMatching +Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref icd11:5D00.3 semapv:UnspecifiedMatching Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref UMLS:C5192432 semapv:UnspecifiedMatching Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -16932,20 +19843,28 @@ Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref OMIM:601390 se Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref OMIM:615546 semapv:UnspecifiedMatching Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref UMLS:C1832390 semapv:UnspecifiedMatching Orphanet:314684 Primary bone lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:314684 Primary bone lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:314684 Primary bone lymphoma oboInOwl:hasDbXref UMLS:C1332582 semapv:UnspecifiedMatching Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref OMIM:614868 semapv:UnspecifiedMatching Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref UMLS:C4749922 semapv:UnspecifiedMatching Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching +Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref UMLS:C0151860 semapv:UnspecifiedMatching Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref icd11:8D68 semapv:UnspecifiedMatching Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.2 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.2 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref UMLS:C0281479 semapv:UnspecifiedMatching Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching +Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref UMLS:C5679901 semapv:UnspecifiedMatching Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching @@ -16972,6 +19891,7 @@ Orphanet:314790 Null pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:Uns Orphanet:314790 Null pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:314790 Null pituitary adenoma oboInOwl:hasDbXref UMLS:C5680967 semapv:UnspecifiedMatching Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref OMIM:300582 semapv:UnspecifiedMatching Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref UMLS:C4706613 semapv:UnspecifiedMatching Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching @@ -16993,14 +19913,17 @@ Orphanet:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasD Orphanet:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C5679902 semapv:UnspecifiedMatching Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref UMLS:C5575558 semapv:UnspecifiedMatching Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref UMLS:C0751667 semapv:UnspecifiedMatching Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching Orphanet:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus oboInOwl:hasDbXref ICD10:G91.2 semapv:UnspecifiedMatching +Orphanet:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus oboInOwl:hasDbXref ICD10:G91.2 semapv:UnspecifiedMatching Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C5679898 semapv:UnspecifiedMatching @@ -17012,6 +19935,7 @@ Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10: Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C5396402 semapv:UnspecifiedMatching Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C4707849 semapv:UnspecifiedMatching @@ -17020,6 +19944,8 @@ Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome ob Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref OMIM:608227 semapv:UnspecifiedMatching Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref UMLS:C4512052 semapv:UnspecifiedMatching Orphanet:315 Erythrokeratoderma ''en cocardes'' oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:315 Erythrokeratoderma ''en cocardes'' oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref UMLS:C4518551 semapv:UnspecifiedMatching Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching @@ -17043,6 +19969,7 @@ Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase def Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching Orphanet:315350 Autoimmune disease with skin involvement oboInOwl:hasDbXref UMLS:C5680965 semapv:UnspecifiedMatching Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref MESH:C537580 semapv:UnspecifiedMatching Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref MedDRA:10084074 semapv:UnspecifiedMatching Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:266900 semapv:UnspecifiedMatching @@ -17055,12 +19982,15 @@ Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:614845 semapv:Unspec Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616307 semapv:UnspecifiedMatching Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616629 semapv:UnspecifiedMatching Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref UMLS:C0403553 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MESH:D025962 semapv:UnspecifiedMatching Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MedDRA:10067159 semapv:UnspecifiedMatching Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref UMLS:C0338503 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:617756 semapv:UnspecifiedMatching @@ -17068,6 +19998,7 @@ Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:6 Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:619209 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref icd11:EC20.0Y semapv:UnspecifiedMatching Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref MESH:D001998 semapv:UnspecifiedMatching Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref MedDRA:10059160 semapv:UnspecifiedMatching Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref UMLS:C0006288 semapv:UnspecifiedMatching @@ -17077,6 +20008,7 @@ Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref ICD10:C84.1 semapv:Unspecified Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref MESH:D012751 semapv:UnspecifiedMatching Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref MedDRA:10040493 semapv:UnspecifiedMatching Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref UMLS:C0036920 semapv:UnspecifiedMatching +Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref icd11:2B02 semapv:UnspecifiedMatching Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref MESH:C564815 semapv:UnspecifiedMatching Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref UMLS:C1849156 semapv:UnspecifiedMatching Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref icd11:8B44.0Z semapv:UnspecifiedMatching @@ -17084,34 +20016,45 @@ Orphanet:316235 Autosomal dominant spastic ataxia oboInOwl:hasDbXref UMLS:C56798 Orphanet:316240 Autosomal recessive spastic ataxia oboInOwl:hasDbXref UMLS:C5679900 semapv:UnspecifiedMatching Orphanet:316244 Partial deletion of the short arm of chromosome 12 oboInOwl:hasDbXref MESH:C538302 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref OMIM:269880 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref UMLS:C0878684 semapv:UnspecifiedMatching +Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref icd11:LD27.6Z semapv:UnspecifiedMatching +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref MESH:C537329 semapv:UnspecifiedMatching Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref OMIM:182210 semapv:UnspecifiedMatching Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref UMLS:C1866958 semapv:UnspecifiedMatching Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref ICD10:M35.4 semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref ICD10:M35.4 semapv:UnspecifiedMatching Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref MESH:C562487 semapv:UnspecifiedMatching Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref MedDRA:10014954 semapv:UnspecifiedMatching Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref OMIM:226350 semapv:UnspecifiedMatching Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref UMLS:C0264005 semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref icd11:4A43.4 semapv:UnspecifiedMatching Orphanet:3166 Sialuria oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:3166 Sialuria oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:3166 Sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching Orphanet:3166 Sialuria oboInOwl:hasDbXref UMLS:C0342853 semapv:UnspecifiedMatching +Orphanet:3166 Sialuria oboInOwl:hasDbXref icd11:5C56.4 semapv:UnspecifiedMatching +Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref MESH:C537335 semapv:UnspecifiedMatching Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref UMLS:C2931473 semapv:UnspecifiedMatching Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref MESH:C537338 semapv:UnspecifiedMatching Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref OMIM:113450 semapv:UnspecifiedMatching Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref UMLS:C1862092 semapv:UnspecifiedMatching Orphanet:3169 Sirenomelia oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3169 Sirenomelia oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:3169 Sirenomelia oboInOwl:hasDbXref MedDRA:10049216 semapv:UnspecifiedMatching Orphanet:3169 Sirenomelia oboInOwl:hasDbXref OMIM:600145 semapv:UnspecifiedMatching Orphanet:3169 Sirenomelia oboInOwl:hasDbXref UMLS:C0037205 semapv:UnspecifiedMatching +Orphanet:3169 Sirenomelia oboInOwl:hasDbXref icd11:LD2F.12 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref MESH:D056266 semapv:UnspecifiedMatching Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref MedDRA:10049048 semapv:UnspecifiedMatching @@ -17122,6 +20065,7 @@ Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617526 semap Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C0265961 semapv:UnspecifiedMatching Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref icd11:EC20.0Y semapv:UnspecifiedMatching Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref MESH:C535522 semapv:UnspecifiedMatching Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref OMIM:602066 semapv:UnspecifiedMatching Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref UMLS:C1865926 semapv:UnspecifiedMatching @@ -17129,10 +20073,12 @@ Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref icd1 Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref OMIM:227210 semapv:UnspecifiedMatching Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref UMLS:C4518569 semapv:UnspecifiedMatching Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref UMLS:C4749287 semapv:UnspecifiedMatching Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MESH:D000542 semapv:UnspecifiedMatching Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MedDRA:10001890 semapv:UnspecifiedMatching Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref UMLS:C0002390 semapv:UnspecifiedMatching +Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref icd11:CA70 semapv:UnspecifiedMatching Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C5679894 semapv:UnspecifiedMatching @@ -17147,15 +20093,23 @@ Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboI Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref UMLS:C4274221 semapv:UnspecifiedMatching Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref OMIM:616873 semapv:UnspecifiedMatching Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref UMLS:C5190826 semapv:UnspecifiedMatching +Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref OMIM:300853 semapv:UnspecifiedMatching Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref UMLS:C3275445 semapv:UnspecifiedMatching +Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching @@ -17174,6 +20128,8 @@ Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref ICD10:C94.0 semapv:Unsp Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref MESH:D004915 semapv:UnspecifiedMatching Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref OMIM:133180 semapv:UnspecifiedMatching Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref UMLS:C0023440 semapv:UnspecifiedMatching +Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref icd11:2A60.35 semapv:UnspecifiedMatching +Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref MESH:C535779 semapv:UnspecifiedMatching Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref OMIM:600000 semapv:UnspecifiedMatching @@ -17184,16 +20140,24 @@ Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref MESH:C535802 semapv:Unspecif Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref MedDRA:10010455 semapv:UnspecifiedMatching Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref OMIM:184400 semapv:UnspecifiedMatching Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref UMLS:C0152438 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref icd11:LB72.1 semapv:UnspecifiedMatching +Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref ICD10:T50.4 semapv:UnspecifiedMatching Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref ICD10:T50.4 semapv:UnspecifiedMatching Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref UMLS:C0274779 semapv:UnspecifiedMatching Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref icd11:NE60 semapv:UnspecifiedMatching Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref ICD10:T51.1 semapv:UnspecifiedMatching +Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref ICD10:T51.1 semapv:UnspecifiedMatching Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref UMLS:C0392621 semapv:UnspecifiedMatching +Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref ICD10:T52.8 semapv:UnspecifiedMatching Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref ICD10:T52.8 semapv:UnspecifiedMatching Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref UMLS:C0413194 semapv:UnspecifiedMatching +Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching +Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref UMLS:C0413070 semapv:UnspecifiedMatching +Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching +Orphanet:31828 Digitalis poisoning oboInOwl:hasDbXref ICD10:T46.0 semapv:UnspecifiedMatching Orphanet:31828 Digitalis poisoning oboInOwl:hasDbXref ICD10:T46.0 semapv:UnspecifiedMatching Orphanet:31828 Digitalis poisoning oboInOwl:hasDbXref UMLS:C0274726 semapv:UnspecifiedMatching Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching @@ -17202,6 +20166,7 @@ Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 s Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MedDRA:10037458 semapv:UnspecifiedMatching Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref OMIM:265450 semapv:UnspecifiedMatching Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS:C0034091 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref MESH:C537487 semapv:UnspecifiedMatching @@ -17217,6 +20182,8 @@ Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:h Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref UMLS:C5680865 semapv:UnspecifiedMatching +Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref icd11:LA86.3 semapv:UnspecifiedMatching +Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref MedDRA:10037451 semapv:UnspecifiedMatching Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching @@ -17227,27 +20194,36 @@ Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.0 semapv:Unspec Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.1 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.1 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.3 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.3 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.2 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.2 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.3 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.3 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref MedDRA:10015560 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0585474 semapv:UnspecifiedMatching Orphanet:3190 Subpulmonary stenosis oboInOwl:hasDbXref ICD10:Q24.3 semapv:UnspecifiedMatching +Orphanet:3190 Subpulmonary stenosis oboInOwl:hasDbXref ICD10:Q24.3 semapv:UnspecifiedMatching Orphanet:3190 Subpulmonary stenosis oboInOwl:hasDbXref UMLS:C3165028 semapv:UnspecifiedMatching +Orphanet:3190 Subpulmonary stenosis oboInOwl:hasDbXref icd11:LA8A.6 semapv:UnspecifiedMatching Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref MESH:C537749 semapv:UnspecifiedMatching Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref OMIM:271960 semapv:UnspecifiedMatching Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref UMLS:C0795947 semapv:UnspecifiedMatching Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref OMIM:614807 semapv:UnspecifiedMatching Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref UMLS:C4707232 semapv:UnspecifiedMatching Orphanet:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749349 semapv:UnspecifiedMatching Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref OMIM:605130 semapv:UnspecifiedMatching Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref UMLS:C1854630 semapv:UnspecifiedMatching Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching @@ -17260,6 +20236,7 @@ Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref OMIM:618646 semapv:UnspecifiedMatching Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref UMLS:C4707858 semapv:UnspecifiedMatching Orphanet:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching +Orphanet:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching Orphanet:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref UMLS:C4706300 semapv:UnspecifiedMatching Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching @@ -17273,11 +20250,14 @@ Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref ICD10:E2 Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref UMLS:C5679892 semapv:UnspecifiedMatching Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref UMLS:C4274433 semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 semapv:UnspecifiedMatching +Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MESH:D019142 semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MedDRA:10014071 semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282687 semapv:UnspecifiedMatching +Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref icd11:1D60.01 semapv:UnspecifiedMatching Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.0 semapv:UnspecifiedMatching Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.0 semapv:UnspecifiedMatching Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019097 semapv:UnspecifiedMatching @@ -17288,27 +20268,39 @@ Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref MedDRA:10005932 se Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282192 semapv:UnspecifiedMatching Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref icd11:1D61.1 semapv:UnspecifiedMatching Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref UMLS:C0042470 semapv:UnspecifiedMatching +Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref icd11:1D61.3 semapv:UnspecifiedMatching +Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0343633 semapv:UnspecifiedMatching +Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref icd11:1D6Y semapv:UnspecifiedMatching +Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref UMLS:C4274434 semapv:UnspecifiedMatching +Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref icd11:1D6Y semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:B33.4+ semapv:UnspecifiedMatching Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:B33.4+ semapv:UnspecifiedMatching Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:J17.1* semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:J17.1* semapv:UnspecifiedMatching Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref MESH:D018804 semapv:UnspecifiedMatching Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref MedDRA:10019143 semapv:UnspecifiedMatching Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS:C0243025 semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref icd11:1D62.1 semapv:UnspecifiedMatching Orphanet:319251 Rift valley fever oboInOwl:hasDbXref ICD10:A92.4 semapv:UnspecifiedMatching Orphanet:319251 Rift valley fever oboInOwl:hasDbXref ICD10:A92.4 semapv:UnspecifiedMatching Orphanet:319251 Rift valley fever oboInOwl:hasDbXref MESH:D012295 semapv:UnspecifiedMatching Orphanet:319251 Rift valley fever oboInOwl:hasDbXref MedDRA:10039143 semapv:UnspecifiedMatching Orphanet:319251 Rift valley fever oboInOwl:hasDbXref UMLS:C0035613 semapv:UnspecifiedMatching +Orphanet:319251 Rift valley fever oboInOwl:hasDbXref icd11:1D44 semapv:UnspecifiedMatching +Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref ICD10:A98.2 semapv:UnspecifiedMatching Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref ICD10:A98.2 semapv:UnspecifiedMatching Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref MESH:D007733 semapv:UnspecifiedMatching Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref MedDRA:10023505 semapv:UnspecifiedMatching Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref UMLS:C0022810 semapv:UnspecifiedMatching Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref icd11:1D4B semapv:UnspecifiedMatching Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.1 semapv:UnspecifiedMatching +Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.1 semapv:UnspecifiedMatching Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref MESH:D006481 semapv:UnspecifiedMatching Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref MedDRA:10030310 semapv:UnspecifiedMatching Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019103 semapv:UnspecifiedMatching @@ -17323,11 +20315,14 @@ Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 sema Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref MedDRA:10078493 semapv:UnspecifiedMatching Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1306837 semapv:UnspecifiedMatching +Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref ICD10:Q25.3 semapv:UnspecifiedMatching Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref ICD10:Q25.3 semapv:UnspecifiedMatching Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MESH:D021921 semapv:UnspecifiedMatching Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MedDRA:10042598 semapv:UnspecifiedMatching Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref OMIM:185500 semapv:UnspecifiedMatching Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0003499 semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref icd11:LA8A.3 semapv:UnspecifiedMatching Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref MedDRA:10080544 semapv:UnspecifiedMatching @@ -17348,6 +20343,7 @@ Orphanet:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 s Orphanet:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref UMLS:C4288091 semapv:UnspecifiedMatching Orphanet:319328 Inherited renal cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5680964 semapv:UnspecifiedMatching Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:618484 semapv:UnspecifiedMatching Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C4707155 semapv:UnspecifiedMatching Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching @@ -17355,6 +20351,7 @@ Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:has Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:608837 semapv:UnspecifiedMatching Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C4553889 semapv:UnspecifiedMatching Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref MESH:C536444 semapv:UnspecifiedMatching Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref OMIM:122440 semapv:UnspecifiedMatching Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref UMLS:C1852542 semapv:UnspecifiedMatching @@ -17385,22 +20382,27 @@ Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbX Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref OMIM:614096 semapv:UnspecifiedMatching Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref UMLS:C4518839 semapv:UnspecifiedMatching +Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref OMIM:614582 semapv:UnspecifiedMatching Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref UMLS:C4706315 semapv:UnspecifiedMatching +Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref OMIM:614932 semapv:UnspecifiedMatching Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref UMLS:C4706283 semapv:UnspecifiedMatching +Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref OMIM:614946 semapv:UnspecifiedMatching Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref UMLS:C4755312 semapv:UnspecifiedMatching +Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref OMIM:614947 semapv:UnspecifiedMatching Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref UMLS:C4706313 semapv:UnspecifiedMatching +Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency oboInOwl:hasDbXref UMLS:C5679890 semapv:UnspecifiedMatching Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency oboInOwl:hasDbXref UMLS:C5679891 semapv:UnspecifiedMatching Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency oboInOwl:hasDbXref UMLS:C5679889 semapv:UnspecifiedMatching @@ -17449,6 +20451,7 @@ Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partia Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref UMLS:C4509855 semapv:UnspecifiedMatching Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref MESH:C537490 semapv:UnspecifiedMatching Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C2931508 semapv:UnspecifiedMatching Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching @@ -17472,6 +20475,7 @@ Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref OMIM:617920 semapv:UnspecifiedMatching @@ -17500,12 +20504,16 @@ Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F78 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F78 semapv:UnspecifiedMatching +Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref UMLS:C4706485 semapv:UnspecifiedMatching Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref OMIM:615071 semapv:UnspecifiedMatching Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref UMLS:C3554439 semapv:UnspecifiedMatching Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref OMIM:614851 semapv:UnspecifiedMatching Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref UMLS:C4749303 semapv:UnspecifiedMatching Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -17522,24 +20530,30 @@ Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type oboInOw Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref MESH:C538136 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:149400 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614618 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614619 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:618011 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref UMLS:C1835614 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:319705 NON RARE IN EUROPE: Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:319705 NON RARE IN EUROPE: Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:319719 Autoinflammatory syndrome of childhood oboInOwl:hasDbXref UMLS:C5680962 semapv:UnspecifiedMatching Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref MedDRA:10042044 semapv:UnspecifiedMatching Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref UMLS:C0085292 semapv:UnspecifiedMatching Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref MESH:C565968 semapv:UnspecifiedMatching Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref OMIM:202900 semapv:UnspecifiedMatching Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref UMLS:C1859965 semapv:UnspecifiedMatching Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MESH:C536835 semapv:UnspecifiedMatching Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MedDRA:10079364 semapv:UnspecifiedMatching Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching @@ -17547,10 +20561,12 @@ Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:266130 sem Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref UMLS:C0398746 semapv:UnspecifiedMatching Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MedDRA:10080229 semapv:UnspecifiedMatching Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref UMLS:C0342488 semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref icd11:5A76.Y semapv:UnspecifiedMatching Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:601701 semapv:UnspecifiedMatching @@ -17565,9 +20581,11 @@ Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref MESH:C5367 Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:194380 semapv:UnspecifiedMatching Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:616689 semapv:UnspecifiedMatching Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C0272051 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 semapv:UnspecifiedMatching +Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:320332 X-linked pure spastic paraplegia oboInOwl:hasDbXref UMLS:C5680963 semapv:UnspecifiedMatching Orphanet:320335 Pure or complex hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C5679885 semapv:UnspecifiedMatching Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia oboInOwl:hasDbXref UMLS:C5679886 semapv:UnspecifiedMatching @@ -17577,6 +20595,7 @@ Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref OMIM:613364 semapv:UnspecifiedMatching Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref UMLS:C3888208 semapv:UnspecifiedMatching +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref UMLS:C4755299 semapv:UnspecifiedMatching @@ -17586,54 +20605,67 @@ Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref MESH:C567930 semapv:UnspecifiedMatching Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref OMIM:613096 semapv:UnspecifiedMatching Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref UMLS:C2936879 semapv:UnspecifiedMatching +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref OMIM:615043 semapv:UnspecifiedMatching Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref UMLS:C2680446 semapv:UnspecifiedMatching +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref OMIM:615035 semapv:UnspecifiedMatching Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref UMLS:C3539506 semapv:UnspecifiedMatching +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref OMIM:615033 semapv:UnspecifiedMatching Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref UMLS:C3539495 semapv:UnspecifiedMatching +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref OMIM:615031 semapv:UnspecifiedMatching Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref UMLS:C5190860 semapv:UnspecifiedMatching +Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref icd11:8C21.Y semapv:UnspecifiedMatching Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref OMIM:614409 semapv:UnspecifiedMatching Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref UMLS:C2828721 semapv:UnspecifiedMatching +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref OMIM:613162 semapv:UnspecifiedMatching Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref UMLS:C3888209 semapv:UnspecifiedMatching +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref MESH:C566108 semapv:UnspecifiedMatching Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref OMIM:185070 semapv:UnspecifiedMatching Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref UMLS:C1861451 semapv:UnspecifiedMatching +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref MESH:C567707 semapv:UnspecifiedMatching Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref OMIM:613206 semapv:UnspecifiedMatching Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref UMLS:C2750784 semapv:UnspecifiedMatching +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref MESH:C563702 semapv:UnspecifiedMatching Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref OMIM:609541 semapv:UnspecifiedMatching Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1836010 semapv:UnspecifiedMatching +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref OMIM:615030 semapv:UnspecifiedMatching Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref UMLS:C3539507 semapv:UnspecifiedMatching +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MedDRA:10042265 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref icd11:LD23 semapv:UnspecifiedMatching Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref MESH:C537502 semapv:UnspecifiedMatching @@ -17645,6 +20677,7 @@ Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disa Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536701 semapv:UnspecifiedMatching Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931292 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619166 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619167 semapv:UnspecifiedMatching @@ -17657,6 +20690,7 @@ Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133700 semapv:Unsp Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref UMLS:C0206641 semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref icd11:LD24.20 semapv:UnspecifiedMatching Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref MESH:C538142 semapv:UnspecifiedMatching @@ -17673,6 +20707,7 @@ Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDb Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref MESH:C536771 semapv:UnspecifiedMatching Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref OMIM:601706 semapv:UnspecifiedMatching Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref UMLS:C1866425 semapv:UnspecifiedMatching +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref ICD10:Q17.8 semapv:UnspecifiedMatching Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref ICD10:Q17.8 semapv:UnspecifiedMatching Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref MESH:C537239 semapv:UnspecifiedMatching @@ -17683,16 +20718,20 @@ Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:h Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref MESH:C537305 semapv:UnspecifiedMatching Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref OMIM:221400 semapv:UnspecifiedMatching Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1857338 semapv:UnspecifiedMatching +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref MESH:C535928 semapv:UnspecifiedMatching Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref OMIM:601351 semapv:UnspecifiedMatching Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref UMLS:C1832438 semapv:UnspecifiedMatching +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref MESH:C537270 semapv:UnspecifiedMatching Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref MedDRA:10083946 semapv:UnspecifiedMatching Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref OMIM:229120 semapv:UnspecifiedMatching Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref UMLS:C0795944 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref MESH:C564009 semapv:UnspecifiedMatching @@ -17719,18 +20758,22 @@ Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis sy Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref MESH:C537887 semapv:UnspecifiedMatching Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref UMLS:C2931654 semapv:UnspecifiedMatching +Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref UMLS:C4274756 semapv:UnspecifiedMatching +Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref OMIM:614038 semapv:UnspecifiedMatching Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref UMLS:C3279664 semapv:UnspecifiedMatching Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref MESH:C538049 semapv:UnspecifiedMatching Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref OMIM:221740 semapv:UnspecifiedMatching Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref UMLS:C1857333 semapv:UnspecifiedMatching +Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -17743,11 +20786,13 @@ Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref MESH:C536432 semapv:UnspecifiedMatching Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref OMIM:120040 semapv:UnspecifiedMatching Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref UMLS:C1861512 semapv:UnspecifiedMatching +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref ICD10:H74.3 semapv:UnspecifiedMatching Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref ICD10:H74.3 semapv:UnspecifiedMatching Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref MESH:C563316 semapv:UnspecifiedMatching Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref OMIM:601449 semapv:UnspecifiedMatching Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref UMLS:C1832354 semapv:UnspecifiedMatching +Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref icd11:LD2H.2 semapv:UnspecifiedMatching Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C535993 semapv:UnspecifiedMatching @@ -17766,10 +20811,13 @@ Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref MESH:C537269 semapv:UnspecifiedMatching Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref OMIM:157800 semapv:UnspecifiedMatching Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref UMLS:C2931461 semapv:UnspecifiedMatching +Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref OMIM:221350 semapv:UnspecifiedMatching Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref UMLS:C4518568 semapv:UnspecifiedMatching +Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:324 Fabry disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:324 Fabry disease oboInOwl:hasDbXref MESH:D000795 semapv:UnspecifiedMatching Orphanet:324 Fabry disease oboInOwl:hasDbXref MedDRA:10016016 semapv:UnspecifiedMatching @@ -17779,25 +20827,33 @@ Orphanet:324 Fabry disease oboInOwl:hasDbXref icd11:5C56.01 semapv:UnspecifiedMa Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref UMLS:C4512024 semapv:UnspecifiedMatching +Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref MESH:C565118 semapv:UnspecifiedMatching Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref OMIM:125230 semapv:UnspecifiedMatching Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref UMLS:C1852278 semapv:UnspecifiedMatching +Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref UMLS:C0796135 semapv:UnspecifiedMatching +Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref icd11:5C50.Y semapv:UnspecifiedMatching +Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref OMIM:616640 semapv:UnspecifiedMatching Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref UMLS:C4518574 semapv:UnspecifiedMatching +Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618307 semapv:UnspecifiedMatching Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C4749500 semapv:UnspecifiedMatching Orphanet:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref UMLS:C5679884 semapv:UnspecifiedMatching Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref ICD10:L98.2 semapv:UnspecifiedMatching Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref ICD10:L98.2 semapv:UnspecifiedMatching @@ -17807,6 +20863,7 @@ Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref OMIM:608068 semapv:UnspecifiedMa Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref UMLS:C0085077 semapv:UnspecifiedMatching Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref icd11:EB20 semapv:UnspecifiedMatching Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q68.4 semapv:UnspecifiedMatching +Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q68.4 semapv:UnspecifiedMatching Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4707850 semapv:UnspecifiedMatching Orphanet:324313 9p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:324313 9p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -17819,6 +20876,7 @@ Orphanet:324353 Congenital achiasma oboInOwl:hasDbXref ICD10:H47.4 semapv:Unspec Orphanet:324353 Congenital achiasma oboInOwl:hasDbXref ICD10:H47.4 semapv:UnspecifiedMatching Orphanet:324353 Congenital achiasma oboInOwl:hasDbXref UMLS:C4518345 semapv:UnspecifiedMatching Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref UMLS:C5191052 semapv:UnspecifiedMatching Orphanet:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching @@ -17837,6 +20895,7 @@ Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref OMIM:300884 semapv:UnspecifiedMatch Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref UMLS:C4317295 semapv:UnspecifiedMatching Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref OMIM:137200 semapv:UnspecifiedMatching Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -17853,6 +20912,7 @@ Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual d Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4751006 semapv:UnspecifiedMatching Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:615522 semapv:UnspecifiedMatching Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C3809781 semapv:UnspecifiedMatching Orphanet:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -17863,15 +20923,19 @@ Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref ICD10 Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref UMLS:C4303475 semapv:UnspecifiedMatching Orphanet:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref UMLS:C4749502 semapv:UnspecifiedMatching Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref UMLS:C4755257 semapv:UnspecifiedMatching Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref ICD10:G51.4 semapv:UnspecifiedMatching +Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref ICD10:G51.4 semapv:UnspecifiedMatching Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref MESH:C564676 semapv:UnspecifiedMatching Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref OMIM:606703 semapv:UnspecifiedMatching Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref UMLS:C1847627 semapv:UnspecifiedMatching Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref MESH:C566098 semapv:UnspecifiedMatching Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref OMIM:185750 semapv:UnspecifiedMatching Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref UMLS:C1861391 semapv:UnspecifiedMatching @@ -17880,10 +20944,12 @@ Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref ICD10 Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref OMIM:303400 semapv:UnspecifiedMatching Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref UMLS:C4707825 semapv:UnspecifiedMatching Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref UMLS:C5679883 semapv:UnspecifiedMatching Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref UMLS:C4707173 semapv:UnspecifiedMatching Orphanet:324625 Chikungunya oboInOwl:hasDbXref ICD10:A92.0 semapv:UnspecifiedMatching Orphanet:324625 Chikungunya oboInOwl:hasDbXref ICD10:A92.0 semapv:UnspecifiedMatching @@ -17902,30 +20968,35 @@ Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A0 Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.8 semapv:UnspecifiedMatching Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref UMLS:C4706572 semapv:UnspecifiedMatching Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref UMLS:C5679882 semapv:UnspecifiedMatching Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref UMLS:C5679881 semapv:UnspecifiedMatching Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref UMLS:C5679879 semapv:UnspecifiedMatching Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref UMLS:C5679878 semapv:UnspecifiedMatching Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching @@ -17940,8 +21011,10 @@ Orphanet:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref MedDRA:1005195 Orphanet:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref UMLS:C0265255 semapv:UnspecifiedMatching Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680960 semapv:UnspecifiedMatching Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching +Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref OMIM:185700 semapv:UnspecifiedMatching Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref UMLS:C1861401 semapv:UnspecifiedMatching +Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref icd11:LB90.Y semapv:UnspecifiedMatching Orphanet:324927 Pyogenic autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680956 semapv:UnspecifiedMatching Orphanet:324930 Granulomatous autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680957 semapv:UnspecifiedMatching Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome oboInOwl:hasDbXref UMLS:C5680958 semapv:UnspecifiedMatching @@ -17976,10 +21049,12 @@ Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref OMIM:613679 sema Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref UMLS:C0272317 semapv:UnspecifiedMatching Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref MESH:C536223 semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:185800 semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:615298 semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref UMLS:C1861385 semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref icd11:LB90.Y semapv:UnspecifiedMatching Orphanet:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:325055 46,XX disorder of gonadal development oboInOwl:hasDbXref UMLS:C5680950 semapv:UnspecifiedMatching @@ -17989,6 +21064,7 @@ Orphanet:325099 46,XX difference of sex development induced by exogenous materna Orphanet:325109 Syndrome with 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C5679873 semapv:UnspecifiedMatching Orphanet:325118 46,XY disorder of gonadal development oboInOwl:hasDbXref UMLS:C5680949 semapv:UnspecifiedMatching Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching +Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref MESH:C537770 semapv:UnspecifiedMatching Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref MedDRA:10002641 semapv:UnspecifiedMatching Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref UMLS:C1261504 semapv:UnspecifiedMatching @@ -18000,10 +21076,13 @@ Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C2931488 semapv:UnspecifiedMatching Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching +Orphanet:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching Orphanet:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref UMLS:C4706535 semapv:UnspecifiedMatching +Orphanet:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref icd11:LD2A.0 semapv:UnspecifiedMatching Orphanet:325351 46,XY difference of sex development of endocrine origin oboInOwl:hasDbXref UMLS:C5679872 semapv:UnspecifiedMatching Orphanet:325357 46,XY difference of sex development due to impaired androgen production oboInOwl:hasDbXref UMLS:C5679870 semapv:UnspecifiedMatching Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref OMIM:228300 semapv:UnspecifiedMatching Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -18033,9 +21112,12 @@ Orphanet:325690 Genetic difference of sex development oboInOwl:hasDbXref UMLS:C5 Orphanet:325706 Genetic 46,XY difference of sex development oboInOwl:hasDbXref UMLS:C5679863 semapv:UnspecifiedMatching Orphanet:325713 Genetic 46,XY difference of sex development of endocrine origin oboInOwl:hasDbXref UMLS:C5679862 semapv:UnspecifiedMatching Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref MESH:C538150 semapv:UnspecifiedMatching Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref OMIM:212780 semapv:UnspecifiedMatching Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref UMLS:C1859309 semapv:UnspecifiedMatching +Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching +Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref OMIM:186350 semapv:UnspecifiedMatching Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref UMLS:C5191039 semapv:UnspecifiedMatching @@ -18078,6 +21160,7 @@ Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semap Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref UMLS:C4751207 semapv:UnspecifiedMatching Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.0 semapv:UnspecifiedMatching Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref MESH:C566376 semapv:UnspecifiedMatching Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref OMIM:603438 semapv:UnspecifiedMatching Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref UMLS:C3150890 semapv:UnspecifiedMatching @@ -18085,6 +21168,7 @@ Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 se Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref UMLS:C5679809 semapv:UnspecifiedMatching +Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref MESH:D005168 semapv:UnspecifiedMatching @@ -18100,14 +21184,17 @@ Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboIn Orphanet:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref MESH:C536270 semapv:UnspecifiedMatching Orphanet:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref UMLS:C2931149 semapv:UnspecifiedMatching Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref MESH:D013584 semapv:UnspecifiedMatching Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref MedDRA:10042863 semapv:UnspecifiedMatching Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref OMIM:300813 semapv:UnspecifiedMatching Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref UMLS:C0039101 semapv:UnspecifiedMatching Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching +Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref MESH:C535780 semapv:UnspecifiedMatching Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref OMIM:272460 semapv:UnspecifiedMatching Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref UMLS:C1848934 semapv:UnspecifiedMatching +Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:3276 Disorder of plasmalogens biosynthesis oboInOwl:hasDbXref UMLS:C5681192 semapv:UnspecifiedMatching Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching @@ -18115,6 +21202,7 @@ Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref MESH:D005171 sema Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref MedDRA:10052474 semapv:UnspecifiedMatching Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref OMIM:227600 semapv:UnspecifiedMatching Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref UMLS:C0015519 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref icd11:3B14.1 semapv:UnspecifiedMatching Orphanet:3280 Syringomyelia oboInOwl:hasDbXref MESH:D013595 semapv:UnspecifiedMatching Orphanet:3280 Syringomyelia oboInOwl:hasDbXref MedDRA:10042928 semapv:UnspecifiedMatching Orphanet:3280 Syringomyelia oboInOwl:hasDbXref OMIM:186700 semapv:UnspecifiedMatching @@ -18123,6 +21211,7 @@ Orphanet:3280 Syringomyelia oboInOwl:hasDbXref icd11:8D66 semapv:UnspecifiedMatc Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref UMLS:C0221158 semapv:UnspecifiedMatching +Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref icd11:BC81.Y semapv:UnspecifiedMatching Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref MESH:D013613 semapv:UnspecifiedMatching @@ -18138,6 +21227,7 @@ Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:has Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614916 semapv:UnspecifiedMatching Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:615441 semapv:UnspecifiedMatching Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref UMLS:C5574922 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref icd11:BC65.5 semapv:UnspecifiedMatching Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref ICD10:M31.4 semapv:UnspecifiedMatching Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref ICD10:M31.4 semapv:UnspecifiedMatching Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref MESH:D013625 semapv:UnspecifiedMatching @@ -18148,6 +21238,7 @@ Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref icd11:4A44.1 semapv:Unspecif Orphanet:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching Orphanet:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref ICD10:D68.1 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref ICD10:D68.1 semapv:UnspecifiedMatching Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref MESH:D005173 semapv:UnspecifiedMatching Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref MedDRA:10016082 semapv:UnspecifiedMatching Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching @@ -18167,8 +21258,10 @@ Orphanet:329178 Congenital muscular dystrophy with intellectual disability and s Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref OMIM:615042 semapv:UnspecifiedMatching Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref UMLS:C5190603 semapv:UnspecifiedMatching Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref OMIM:615923 semapv:UnspecifiedMatching Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref UMLS:C4749503 semapv:UnspecifiedMatching +Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref OMIM:615516 semapv:UnspecifiedMatching @@ -18185,11 +21278,13 @@ Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy ob Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 semapv:UnspecifiedMatching Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 semapv:UnspecifiedMatching Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref UMLS:C0338573 semapv:UnspecifiedMatching +Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref icd11:8B22 semapv:UnspecifiedMatching Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:615009 semapv:UnspecifiedMatching Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751005 semapv:UnspecifiedMatching Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref OMIM:615095 semapv:UnspecifiedMatching Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref UMLS:C4510378 semapv:UnspecifiedMatching Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching @@ -18208,6 +21303,7 @@ Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B d Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref OMIM:615025 semapv:UnspecifiedMatching Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref UMLS:C3554366 semapv:UnspecifiedMatching Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching @@ -18222,11 +21318,14 @@ Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:has Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C3668943 semapv:UnspecifiedMatching Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref OMIM:617070 semapv:UnspecifiedMatching Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref UMLS:C4518838 semapv:UnspecifiedMatching Orphanet:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref UMLS:C4749944 semapv:UnspecifiedMatching Orphanet:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref UMLS:C5679859 semapv:UnspecifiedMatching Orphanet:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -18237,6 +21336,7 @@ Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syn Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref OMIM:614407 semapv:UnspecifiedMatching Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref UMLS:C3280692 semapv:UnspecifiedMatching Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref OMIM:616479 semapv:UnspecifiedMatching Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4511138 semapv:UnspecifiedMatching Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref MESH:C536960 semapv:UnspecifiedMatching @@ -18253,16 +21353,20 @@ Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref UMLS:C5679860 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref icd11:2A60.36 semapv:UnspecifiedMatching Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref UMLS:C4511969 semapv:UnspecifiedMatching Orphanet:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref UMLS:C4749506 semapv:UnspecifiedMatching Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref MESH:C567089 semapv:UnspecifiedMatching Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref OMIM:611771 semapv:UnspecifiedMatching Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref UMLS:C2673196 semapv:UnspecifiedMatching +Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref icd11:MF82 semapv:UnspecifiedMatching +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref OMIM:142680 semapv:UnspecifiedMatching Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref UMLS:C1275126 semapv:UnspecifiedMatching @@ -18272,8 +21376,10 @@ Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 se Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref OMIM:613174 semapv:UnspecifiedMatching Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref UMLS:C4749507 semapv:UnspecifiedMatching Orphanet:329813 Mosaic genome-wide paternal uniparental disomy oboInOwl:hasDbXref ICD10:Q95.8 semapv:UnspecifiedMatching +Orphanet:329813 Mosaic genome-wide paternal uniparental disomy oboInOwl:hasDbXref ICD10:Q95.8 semapv:UnspecifiedMatching Orphanet:329813 Mosaic genome-wide paternal uniparental disomy oboInOwl:hasDbXref UMLS:C5190828 semapv:UnspecifiedMatching Orphanet:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref ICD10:I40.1 semapv:UnspecifiedMatching +Orphanet:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref ICD10:I40.1 semapv:UnspecifiedMatching Orphanet:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref UMLS:C5679856 semapv:UnspecifiedMatching Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching @@ -18287,29 +21393,43 @@ Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A33 semapv:UnspecifiedMatching Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A34 semapv:UnspecifiedMatching Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A34 semapv:UnspecifiedMatching Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A35 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A35 semapv:UnspecifiedMatching Orphanet:3299 Tetanus oboInOwl:hasDbXref MESH:D013742 semapv:UnspecifiedMatching Orphanet:3299 Tetanus oboInOwl:hasDbXref MedDRA:10043376 semapv:UnspecifiedMatching Orphanet:3299 Tetanus oboInOwl:hasDbXref UMLS:C0039614 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref icd11:1C13 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref icd11:1C14 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref icd11:1C15 semapv:UnspecifiedMatching +Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C5679858 semapv:UnspecifiedMatching Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref MedDRA:10077827 semapv:UnspecifiedMatching Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref UMLS:C4087273 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref icd11:MF8Y semapv:UnspecifiedMatching +Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref UMLS:C4055342 semapv:UnspecifiedMatching +Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref icd11:MF8Y semapv:UnspecifiedMatching +Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C4509950 semapv:UnspecifiedMatching +Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref ICD10:M12.4 semapv:UnspecifiedMatching Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref ICD10:M12.4 semapv:UnspecifiedMatching Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref UMLS:C0149910 semapv:UnspecifiedMatching +Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref icd11:FA27.4 semapv:UnspecifiedMatching Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref OMIM:174900 semapv:UnspecifiedMatching Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref UMLS:C5680947 semapv:UnspecifiedMatching +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching Orphanet:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching Orphanet:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching Orphanet:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref UMLS:C5679854 semapv:UnspecifiedMatching @@ -18328,6 +21448,7 @@ Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref MESH:D005175 se Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref MedDRA:10051806 semapv:UnspecifiedMatching Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref UMLS:C0015526 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref icd11:3B15 semapv:UnspecifiedMatching Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref UMLS:C0342623 semapv:UnspecifiedMatching @@ -18341,36 +21462,48 @@ Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref OMIM:153400 s Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS:C0265345 semapv:UnspecifiedMatching Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref ICD10:J81 semapv:UnspecifiedMatching +Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref ICD10:J81 semapv:UnspecifiedMatching Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref MESH:C535833 semapv:UnspecifiedMatching Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref UMLS:C0340100 semapv:UnspecifiedMatching Orphanet:330015 Lead poisoning oboInOwl:hasDbXref ICD10:T56.0 semapv:UnspecifiedMatching +Orphanet:330015 Lead poisoning oboInOwl:hasDbXref ICD10:T56.0 semapv:UnspecifiedMatching Orphanet:330015 Lead poisoning oboInOwl:hasDbXref MESH:D007855 semapv:UnspecifiedMatching Orphanet:330015 Lead poisoning oboInOwl:hasDbXref UMLS:C0023176 semapv:UnspecifiedMatching +Orphanet:330015 Lead poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching +Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref MESH:D008630 semapv:UnspecifiedMatching Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref UMLS:C0025427 semapv:UnspecifiedMatching +Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching +Orphanet:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref UMLS:C5190988 semapv:UnspecifiedMatching Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.8 semapv:UnspecifiedMatching Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.8 semapv:UnspecifiedMatching Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C5679855 semapv:UnspecifiedMatching Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref MESH:C581942 semapv:UnspecifiedMatching Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617971 semapv:UnspecifiedMatching Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617973 semapv:UnspecifiedMatching Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref UMLS:C3665425 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref icd11:3A92 semapv:UnspecifiedMatching Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:614388 semapv:UnspecifiedMatching +Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref icd11:5C5Y semapv:UnspecifiedMatching Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref icd11:LD2E semapv:UnspecifiedMatching Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref OMIM:613076 semapv:UnspecifiedMatching Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4750835 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching +Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref MESH:D006837 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref UMLS:C0020241 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref icd11:EJ30.Y semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref MESH:C566780 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref OMIM:174770 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref UMLS:C0406217 semapv:UnspecifiedMatching @@ -18378,6 +21511,7 @@ Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref icd11:EJ30.Y semapv:Unspecifi Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref ICD10:L57.1 semapv:UnspecifiedMatching Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref ICD10:L57.1 semapv:UnspecifiedMatching Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref UMLS:C0282309 semapv:UnspecifiedMatching +Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref icd11:EJ30.1 semapv:UnspecifiedMatching Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref MESH:C536500 semapv:UnspecifiedMatching @@ -18387,28 +21521,35 @@ Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref UML Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability oboInOwl:hasDbXref UMLS:C5679853 semapv:UnspecifiedMatching Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref MESH:D013771 semapv:UnspecifiedMatching Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref MedDRA:10016193 semapv:UnspecifiedMatching Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref OMIM:618780 semapv:UnspecifiedMatching Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref UMLS:C0039685 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref icd11:LA88.2 semapv:UnspecifiedMatching Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref MESH:C536608 semapv:UnspecifiedMatching Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref OMIM:601127 semapv:UnspecifiedMatching Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref UMLS:C1832735 semapv:UnspecifiedMatching Orphanet:3305 Tetraploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching +Orphanet:3305 Tetraploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching Orphanet:3305 Tetraploidy oboInOwl:hasDbXref MESH:D057891 semapv:UnspecifiedMatching Orphanet:3305 Tetraploidy oboInOwl:hasDbXref UMLS:C0333694 semapv:UnspecifiedMatching +Orphanet:3305 Tetraploidy oboInOwl:hasDbXref icd11:LD42.1 semapv:UnspecifiedMatching Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref MESH:C580205 semapv:UnspecifiedMatching Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref MedDRA:10081682 semapv:UnspecifiedMatching Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref UMLS:C3711376 semapv:UnspecifiedMatching Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref MESH:C537564 semapv:UnspecifiedMatching Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref OMIM:156400 semapv:UnspecifiedMatching Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref UMLS:C0265295 semapv:UnspecifiedMatching +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref MedDRA:10073677 semapv:UnspecifiedMatching Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:607208 semapv:UnspecifiedMatching @@ -18421,6 +21562,7 @@ Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMat Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref MESH:C538306 semapv:UnspecifiedMatching Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref OMIM:614290 semapv:UnspecifiedMatching Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref UMLS:C0795868 semapv:UnspecifiedMatching +Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:3309 Tetrasomy 5p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:3309 Tetrasomy 5p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:3309 Tetrasomy 5p oboInOwl:hasDbXref UMLS:C0795813 semapv:UnspecifiedMatching @@ -18436,6 +21578,7 @@ Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatc Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref MESH:C538027 semapv:UnspecifiedMatching Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref UMLS:C0795832 semapv:UnspecifiedMatching +Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref OMIM:253290 semapv:UnspecifiedMatching @@ -18469,13 +21612,16 @@ Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 d Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching Orphanet:331184 Constitutional neutropenia with extra-hematopoietic manifestations oboInOwl:hasDbXref UMLS:C5680943 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref OMIM:613791 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref UMLS:C4749651 semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref OMIM:613860 semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref UMLS:C5680944 semapv:UnspecifiedMatching Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity oboInOwl:hasDbXref UMLS:C5680945 semapv:UnspecifiedMatching Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref MedDRA:10071249 semapv:UnspecifiedMatching Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref UMLS:C0432365 semapv:UnspecifiedMatching Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching @@ -18488,6 +21634,7 @@ Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref MedDRA:10051040 semapv:Uns Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C3887645 semapv:UnspecifiedMatching Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref MESH:C566928 semapv:UnspecifiedMatching Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref OMIM:611521 semapv:UnspecifiedMatching Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref UMLS:C1969086 semapv:UnspecifiedMatching @@ -18495,7 +21642,9 @@ Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with n Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref UMLS:C0154275 semapv:UnspecifiedMatching +Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref icd11:4A01.04 semapv:UnspecifiedMatching Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells oboInOwl:hasDbXref UMLS:C5680941 semapv:UnspecifiedMatching +Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells oboInOwl:hasDbXref icd11:4A01.05 semapv:UnspecifiedMatching Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects oboInOwl:hasDbXref UMLS:C5680940 semapv:UnspecifiedMatching Orphanet:331249 Immunodeficiency syndrome with hypopigmentation oboInOwl:hasDbXref UMLS:C5680942 semapv:UnspecifiedMatching Orphanet:331249 Immunodeficiency syndrome with hypopigmentation oboInOwl:hasDbXref icd11:4A01.20 semapv:UnspecifiedMatching @@ -18503,12 +21652,14 @@ Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 sem Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref MESH:C537144 semapv:UnspecifiedMatching Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref OMIM:165700 semapv:UnspecifiedMatching +Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref MESH:C536514 semapv:UnspecifiedMatching Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref UMLS:C2931225 semapv:UnspecifiedMatching Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref MESH:C536517 semapv:UnspecifiedMatching Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref OMIM:187760 semapv:UnspecifiedMatching Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref OMIM:187770 semapv:UnspecifiedMatching @@ -18528,6 +21679,7 @@ Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ICD Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS:C1327915 semapv:UnspecifiedMatching +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref icd11:3B64.01 semapv:UnspecifiedMatching Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref MESH:C563242 semapv:UnspecifiedMatching @@ -18537,14 +21689,17 @@ Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:2610 Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref UMLS:C1394891 semapv:UnspecifiedMatching Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref icd11:3A01.0 semapv:UnspecifiedMatching Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MESH:C536940 semapv:UnspecifiedMatching Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MedDRA:10071719 semapv:UnspecifiedMatching Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS:C0175703 semapv:UnspecifiedMatching Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref ICD10:F51.1 semapv:UnspecifiedMatching +Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref ICD10:F51.1 semapv:UnspecifiedMatching Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref MESH:D020177 semapv:UnspecifiedMatching Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref UMLS:C0751757 semapv:UnspecifiedMatching +Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref icd11:7A21 semapv:UnspecifiedMatching Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref MESH:C536068 semapv:UnspecifiedMatching @@ -18555,12 +21710,15 @@ Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:615190 semap Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616353 semapv:UnspecifiedMatching Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref UMLS:C1846142 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref icd11:3A70.0 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref ICD10:C88.0 semapv:UnspecifiedMatching Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref ICD10:C88.0 semapv:UnspecifiedMatching Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MESH:D008258 semapv:UnspecifiedMatching Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MedDRA:10047801 semapv:UnspecifiedMatching Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:153600 semapv:UnspecifiedMatching Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:610430 semapv:UnspecifiedMatching Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref UMLS:C0024419 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref icd11:2A85.4 semapv:UnspecifiedMatching Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref MESH:C536900 semapv:UnspecifiedMatching @@ -18570,6 +21728,7 @@ Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref ICD10:D69.5 se Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref ICD10:D69.5 semapv:UnspecifiedMatching Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref MedDRA:10062506 semapv:UnspecifiedMatching Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref UMLS:C0272285 semapv:UnspecifiedMatching +Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref icd11:3B64.12 semapv:UnspecifiedMatching Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref MESH:C536907 semapv:UnspecifiedMatching @@ -18582,7 +21741,10 @@ Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref UMLS:C4518579 semapv Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.1 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.1 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.2 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.2 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.3 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.3 semapv:UnspecifiedMatching @@ -18598,11 +21760,16 @@ Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref OMIM:148000 semapv:UnspecifiedM Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref UMLS:C0036220 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:1C60.30 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:1C61.30 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.0 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.2 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.Y semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:XH36A5 semapv:UnspecifiedMatching Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref MESH:C536918 semapv:UnspecifiedMatching Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref OMIM:601027 semapv:UnspecifiedMatching Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref UMLS:C4518567 semapv:UnspecifiedMatching Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C536425 semapv:UnspecifiedMatching Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:119100 semapv:UnspecifiedMatching Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:610685 semapv:UnspecifiedMatching @@ -18610,11 +21777,16 @@ Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:61257 Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C4551989 semapv:UnspecifiedMatching Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching Orphanet:333 Farber disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:333 Farber disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:333 Farber disease oboInOwl:hasDbXref MESH:D055577 semapv:UnspecifiedMatching Orphanet:333 Farber disease oboInOwl:hasDbXref OMIM:228000 semapv:UnspecifiedMatching Orphanet:333 Farber disease oboInOwl:hasDbXref UMLS:C0268255 semapv:UnspecifiedMatching +Orphanet:333 Farber disease oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref UMLS:C0580181 semapv:UnspecifiedMatching +Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref icd11:EE90 semapv:UnspecifiedMatching +Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 semapv:UnspecifiedMatching @@ -18624,6 +21796,7 @@ Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref OMIM:267500 semapv:Unspec Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref UMLS:C0272167 semapv:UnspecifiedMatching Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MedDRA:10044628 semapv:UnspecifiedMatching Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching @@ -18658,6 +21831,7 @@ Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref OMIM:600268 s Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref MedDRA:10088317 semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608583 semapv:UnspecifiedMatching @@ -18680,6 +21854,7 @@ Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:617280 semapv: Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref UMLS:C3468561 semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref icd11:BC65.Y semapv:UnspecifiedMatching Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0279606 semapv:UnspecifiedMatching Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref ICD10:L43.1 semapv:UnspecifiedMatching @@ -18688,6 +21863,7 @@ Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref MedDRA:10056960 semapv:U Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref UMLS:C0023648 semapv:UnspecifiedMatching Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus oboInOwl:hasDbXref ICD10:L90.0 semapv:UnspecifiedMatching +Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus oboInOwl:hasDbXref ICD10:L90.0 semapv:UnspecifiedMatching Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref MESH:C536970 semapv:UnspecifiedMatching @@ -18699,11 +21875,13 @@ Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref MESH:C565942 semap Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref MedDRA:10080250 semapv:UnspecifiedMatching Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref OMIM:208050 semapv:UnspecifiedMatching Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref UMLS:C1859726 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref icd11:LD28.Y semapv:UnspecifiedMatching Orphanet:3343 Toxocariasis oboInOwl:hasDbXref ICD10:B83.0 semapv:UnspecifiedMatching Orphanet:3343 Toxocariasis oboInOwl:hasDbXref ICD10:B83.0 semapv:UnspecifiedMatching Orphanet:3343 Toxocariasis oboInOwl:hasDbXref MESH:D014120 semapv:UnspecifiedMatching Orphanet:3343 Toxocariasis oboInOwl:hasDbXref MedDRA:10044269 semapv:UnspecifiedMatching Orphanet:3343 Toxocariasis oboInOwl:hasDbXref UMLS:C0040553 semapv:UnspecifiedMatching +Orphanet:3343 Toxocariasis oboInOwl:hasDbXref icd11:1F6D semapv:UnspecifiedMatching Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref MESH:C537082 semapv:UnspecifiedMatching @@ -18715,6 +21893,8 @@ Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref ICD10: Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref MESH:C536203 semapv:UnspecifiedMatching Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref OMIM:256710 semapv:UnspecifiedMatching Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref UMLS:C1860157 semapv:UnspecifiedMatching +Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching +Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref MESH:C536975 semapv:UnspecifiedMatching Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref UMLS:C1261567 semapv:UnspecifiedMatching @@ -18725,16 +21905,21 @@ Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MESH:D014137 semapv:Unsp Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MedDRA:10044316 semapv:UnspecifiedMatching Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref OMIM:275300 semapv:UnspecifiedMatching Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref UMLS:C0040587 semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref icd11:CA27.1 semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:A39.0+ semapv:UnspecifiedMatching Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:A39.0+ semapv:UnspecifiedMatching Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref MESH:D008585 semapv:UnspecifiedMatching Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref MedDRA:10027249 semapv:UnspecifiedMatching Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref UMLS:C0025294 semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref icd11:1C1C.0 semapv:UnspecifiedMatching Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref MESH:C536977 semapv:UnspecifiedMatching Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref OMIM:189961 semapv:UnspecifiedMatching Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref UMLS:C0520538 semapv:UnspecifiedMatching +Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref icd11:CA27.0 semapv:UnspecifiedMatching Orphanet:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref MESH:C536544 semapv:UnspecifiedMatching Orphanet:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref UMLS:C2931235 semapv:UnspecifiedMatching Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching @@ -18742,6 +21927,7 @@ Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref ICD10:D68.2 sem Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref UMLS:C2062367 semapv:UnspecifiedMatching +Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref icd11:3B14.0 semapv:UnspecifiedMatching Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref MESH:C536406 semapv:UnspecifiedMatching @@ -18765,10 +21951,12 @@ Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXre Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref UMLS:C2931485 semapv:UnspecifiedMatching Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref ICD10:G47.8 semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref ICD10:G47.8 semapv:UnspecifiedMatching Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MESH:D017593 semapv:UnspecifiedMatching Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MedDRA:10053712 semapv:UnspecifiedMatching Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref OMIM:148840 semapv:UnspecifiedMatching Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref UMLS:C0206085 semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref icd11:7A22 semapv:UnspecifiedMatching Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref MESH:C564760 semapv:UnspecifiedMatching @@ -18788,10 +21976,12 @@ Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM: Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS:C0268524 semapv:UnspecifiedMatching Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref icd11:5C50.5 semapv:UnspecifiedMatching Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS:C0268523 semapv:UnspecifiedMatching Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref ICD10:M35.6 semapv:UnspecifiedMatching +Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref ICD10:M35.6 semapv:UnspecifiedMatching Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MESH:D010201 semapv:UnspecifiedMatching Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MedDRA:10047883 semapv:UnspecifiedMatching Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref UMLS:C0030328 semapv:UnspecifiedMatching @@ -18799,9 +21989,11 @@ Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref icd11:EF0 Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries oboInOwl:hasDbXref ICD10:I77.3 semapv:UnspecifiedMatching Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries oboInOwl:hasDbXref ICD10:I77.3 semapv:UnspecifiedMatching Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref OMIM:190360 semapv:UnspecifiedMatching Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref UMLS:C4707844 semapv:UnspecifiedMatching Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref MESH:C536554 semapv:UnspecifiedMatching Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref UMLS:C1848745 semapv:UnspecifiedMatching @@ -18814,6 +22006,7 @@ Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q7 Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref OMIM:190440 semapv:UnspecifiedMatching Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref OMIM:614485 semapv:UnspecifiedMatching Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref UMLS:C0265535 semapv:UnspecifiedMatching +Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref OMIM:275595 semapv:UnspecifiedMatching @@ -18838,14 +22031,18 @@ Orphanet:3375 Trisomy X oboInOwl:hasDbXref ICD10:Q97.0 semapv:UnspecifiedMatchin Orphanet:3375 Trisomy X oboInOwl:hasDbXref MESH:C535318 semapv:UnspecifiedMatching Orphanet:3375 Trisomy X oboInOwl:hasDbXref MedDRA:10076910 semapv:UnspecifiedMatching Orphanet:3375 Trisomy X oboInOwl:hasDbXref UMLS:C0221033 semapv:UnspecifiedMatching +Orphanet:3375 Trisomy X oboInOwl:hasDbXref icd11:LD50.1 semapv:UnspecifiedMatching +Orphanet:3376 Triploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching Orphanet:3376 Triploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching Orphanet:3376 Triploidy oboInOwl:hasDbXref MESH:D057885 semapv:UnspecifiedMatching Orphanet:3376 Triploidy oboInOwl:hasDbXref UMLS:C0333693 semapv:UnspecifiedMatching +Orphanet:3376 Triploidy oboInOwl:hasDbXref icd11:LD42.0 semapv:UnspecifiedMatching Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref MESH:C535857 semapv:UnspecifiedMatching Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:158300 semapv:UnspecifiedMatching Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C0265226 semapv:UnspecifiedMatching +Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.4 semapv:UnspecifiedMatching Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.4 semapv:UnspecifiedMatching Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.5 semapv:UnspecifiedMatching @@ -18857,6 +22054,7 @@ Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.7 semapv:UnspecifiedMatchi Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref MESH:D000073839 semapv:UnspecifiedMatching Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref MedDRA:10044686 semapv:UnspecifiedMatching Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref UMLS:C2936830 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref icd11:LD40.1 semapv:UnspecifiedMatching Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref MESH:C536579 semapv:UnspecifiedMatching @@ -18872,6 +22070,7 @@ Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.3 semapv:UnspecifiedMatchi Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref MESH:D000073842 semapv:UnspecifiedMatching Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref MedDRA:10053884 semapv:UnspecifiedMatching Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref UMLS:C4317091 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref icd11:LD40.2 semapv:UnspecifiedMatching Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref MESH:C566022 semapv:UnspecifiedMatching @@ -18882,8 +22081,11 @@ Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref ICD10:Q20.0 semapv:Unspecifi Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref MESH:D014339 semapv:UnspecifiedMatching Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref UMLS:C0041207 semapv:UnspecifiedMatching +Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref icd11:LA85.4 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.1 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.1 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.9 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.9 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref MESH:D014353 semapv:UnspecifiedMatching @@ -18891,9 +22093,13 @@ Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref MedDRA:10001461 semapv: Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref UMLS:C0041228 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref icd11:1F51 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.0 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.0 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.1 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.1 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.2 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.2 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.3 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.3 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.4 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.4 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.5 semapv:UnspecifiedMatching @@ -18901,6 +22107,12 @@ Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.5 semapv:Uns Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref MESH:D014355 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref MedDRA:10001935 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref UMLS:C0041234 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.1 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.2 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.3 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.4 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:IF53.Y semapv:UnspecifiedMatching Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref MESH:C538390 semapv:UnspecifiedMatching @@ -18909,6 +22121,8 @@ Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref UMLS: Orphanet:3388 Neural tube defect oboInOwl:hasDbXref MESH:D009436 semapv:UnspecifiedMatching Orphanet:3388 Neural tube defect oboInOwl:hasDbXref MedDRA:10052046 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A16 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A16 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref MESH:D014376 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref MedDRA:10044755 semapv:UnspecifiedMatching @@ -18920,9 +22134,13 @@ Orphanet:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrom Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.0 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.0 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.1 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.1 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.2 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.2 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.3 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.3 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.7 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.7 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.8 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.8 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.9 semapv:UnspecifiedMatching @@ -18932,6 +22150,7 @@ Orphanet:3392 Tularemia oboInOwl:hasDbXref MedDRA:10045146 semapv:UnspecifiedMat Orphanet:3392 Tularemia oboInOwl:hasDbXref UMLS:C0041351 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref icd11:1B94 semapv:UnspecifiedMatching Orphanet:3392 Tularemia oboInOwl:hasDbXref icd11:1B94.0 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref icd11:1B94.Y semapv:UnspecifiedMatching Orphanet:3394 Soft tissue sarcoma oboInOwl:hasDbXref MedDRA:10075333 semapv:UnspecifiedMatching Orphanet:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref MESH:C536905 semapv:UnspecifiedMatching Orphanet:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref UMLS:C1266101 semapv:UnspecifiedMatching @@ -18939,14 +22158,19 @@ Orphanet:3399 Germ cell tumor oboInOwl:hasDbXref MedDRA:10061184 semapv:Unspecif Orphanet:3399 Germ cell tumor oboInOwl:hasDbXref UMLS:C0740345 semapv:UnspecifiedMatching Orphanet:34 Pipecolic acidemia oboInOwl:hasDbXref UMLS:C0282526 semapv:UnspecifiedMatching Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:A98.5+ semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:A98.5+ semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:N08.0* semapv:UnspecifiedMatching Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:N08.0* semapv:UnspecifiedMatching Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MESH:C535630 semapv:UnspecifiedMatching Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MedDRA:10023484 semapv:UnspecifiedMatching Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref UMLS:C2930957 semapv:UnspecifiedMatching Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref icd11:1D62.0 semapv:UnspecifiedMatching Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref MESH:D000082903 semapv:UnspecifiedMatching Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref UMLS:C4023262 semapv:UnspecifiedMatching +Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref icd11:LA8A.Y semapv:UnspecifiedMatching +Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref ICD10:P74.5 semapv:UnspecifiedMatching Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref ICD10:P74.5 semapv:UnspecifiedMatching Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref UMLS:C0268485 semapv:UnspecifiedMatching Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref icd11:5C50.1Y semapv:UnspecifiedMatching @@ -19001,10 +22225,12 @@ Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref ICD10:N02 semapv: Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref MedDRA:10021263 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C4511620 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref icd11:GB82 semapv:UnspecifiedMatching Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching @@ -19017,16 +22243,19 @@ Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref MESH:C563129 semapv:Unsp Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref OMIM:314500 semapv:UnspecifiedMatching Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref UMLS:C0796192 semapv:UnspecifiedMatching Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref MedDRA:10016207 semapv:UnspecifiedMatching Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref icd11:4A60.0 semapv:UnspecifiedMatching Orphanet:34217 Naxos disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:34217 Naxos disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:34217 Naxos disease oboInOwl:hasDbXref MESH:C538346 semapv:UnspecifiedMatching Orphanet:34217 Naxos disease oboInOwl:hasDbXref OMIM:601214 semapv:UnspecifiedMatching Orphanet:34217 Naxos disease oboInOwl:hasDbXref UMLS:C1832600 semapv:UnspecifiedMatching +Orphanet:34217 Naxos disease oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching Orphanet:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref MESH:C536533 semapv:UnspecifiedMatching Orphanet:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref UMLS:C2931231 semapv:UnspecifiedMatching Orphanet:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -19040,17 +22269,22 @@ Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref MESH:D004310 sema Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref MedDRA:10013611 semapv:UnspecifiedMatching Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref UMLS:C0013069 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref icd11:LA85.2 semapv:UnspecifiedMatching +Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref ICD10:Q20.2 semapv:UnspecifiedMatching Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref ICD10:Q20.2 semapv:UnspecifiedMatching Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref MedDRA:10080133 semapv:UnspecifiedMatching Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref UMLS:C0265809 semapv:UnspecifiedMatching +Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref icd11:LA85.3 semapv:UnspecifiedMatching Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref MESH:C536541 semapv:UnspecifiedMatching Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref OMIM:215850 semapv:UnspecifiedMatching Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref UMLS:C1859082 semapv:UnspecifiedMatching Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref OMIM:260920 semapv:UnspecifiedMatching Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref UMLS:C0398691 semapv:UnspecifiedMatching +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref icd11:4A60.Y semapv:UnspecifiedMatching Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref MESH:C536349 semapv:UnspecifiedMatching @@ -19060,6 +22294,8 @@ Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMat Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref MESH:C537686 semapv:UnspecifiedMatching Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref OMIM:601349 semapv:UnspecifiedMatching Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref UMLS:C1832440 semapv:UnspecifiedMatching +Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching +Orphanet:3435 NON RARE IN EUROPE: Vitiligo oboInOwl:hasDbXref ICD10:L80 semapv:UnspecifiedMatching Orphanet:3435 NON RARE IN EUROPE: Vitiligo oboInOwl:hasDbXref ICD10:L80 semapv:UnspecifiedMatching Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching @@ -19068,6 +22304,7 @@ Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H30.8 semapv Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref MESH:D014607 semapv:UnspecifiedMatching Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref MedDRA:10082001 semapv:UnspecifiedMatching Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS:C0042170 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref icd11:9A96.1 semapv:UnspecifiedMatching Orphanet:3438 Biliary tract malformation-renal failure syndrome oboInOwl:hasDbXref UMLS:C0400972 semapv:UnspecifiedMatching Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -19075,6 +22312,7 @@ Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref MESH:C565618 semapv Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref OMIM:223340 semapv:UnspecifiedMatching Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref UMLS:C1857226 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref MedDRA:10069203 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching @@ -19085,6 +22323,7 @@ Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:606662 semapv:Unspeci Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching Orphanet:3444 Watson syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching @@ -19093,12 +22332,14 @@ Orphanet:3444 Watson syndrome oboInOwl:hasDbXref OMIM:193520 semapv:UnspecifiedM Orphanet:3444 Watson syndrome oboInOwl:hasDbXref UMLS:C0553586 semapv:UnspecifiedMatching Orphanet:3446 Weaver-like syndrome oboInOwl:hasDbXref UMLS:C0220765 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref MESH:C536687 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref MedDRA:10083271 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:617561 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:618786 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref UMLS:C0265210 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref UMLS:C0796198 semapv:UnspecifiedMatching @@ -19110,14 +22351,17 @@ Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:277600 semapv:Un Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:614819 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C0265313 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref icd11:9C61.42 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref MedDRA:10056961 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref OMIM:260910 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref UMLS:C0263506 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref icd11:ED70.51 semapv:UnspecifiedMatching Orphanet:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching Orphanet:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS:C1848488 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref MESH:D013036 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref MedDRA:10021750 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching @@ -19131,14 +22375,20 @@ Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:617065 semapv:Un Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:617929 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:618298 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref UMLS:C0037769 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref icd11:8A62.0 semapv:UnspecifiedMatching +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref MESH:C566599 semapv:UnspecifiedMatching Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref OMIM:601954 semapv:UnspecifiedMatching Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref UMLS:C1866008 semapv:UnspecifiedMatching +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref MESH:C564612 semapv:UnspecifiedMatching Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref OMIM:607155 semapv:UnspecifiedMatching Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref UMLS:C1846672 semapv:UnspecifiedMatching +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching +Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref MESH:C566370 semapv:UnspecifiedMatching Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref OMIM:603511 semapv:UnspecifiedMatching @@ -19155,23 +22405,28 @@ Orphanet:3452 Whipple disease oboInOwl:hasDbXref MedDRA:10047931 semapv:Unspecif Orphanet:3452 Whipple disease oboInOwl:hasDbXref UMLS:C0023788 semapv:UnspecifiedMatching Orphanet:3452 Whipple disease oboInOwl:hasDbXref icd11:DA96.0Y semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref MESH:C567709 semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref UMLS:C2750786 semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref MESH:C537152 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref OMIM:154020 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref UMLS:C1835171 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref MESH:C538275 semapv:UnspecifiedMatching Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref OMIM:240300 semapv:UnspecifiedMatching Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref UMLS:C0085859 semapv:UnspecifiedMatching Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref MedDRA:10011005 semapv:UnspecifiedMatching Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref UMLS:C0010036 semapv:UnspecifiedMatching @@ -19186,12 +22441,14 @@ Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ICD10:E34.8 se Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref MESH:C536423 semapv:UnspecifiedMatching Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref OMIM:264090 semapv:UnspecifiedMatching Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref UMLS:C0406586 semapv:UnspecifiedMatching +Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref MedDRA:10069402 semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref OMIM:314600 semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref UMLS:C0265239 semapv:UnspecifiedMatching Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching @@ -19202,6 +22459,7 @@ Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref OMIM:309585 semapv:Unspe Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref UMLS:C1839736 semapv:UnspecifiedMatching Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref icd11:LD29 semapv:UnspecifiedMatching Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref ICD10:D81.6 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref ICD10:D81.6 semapv:UnspecifiedMatching Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref MESH:C565759 semapv:UnspecifiedMatching Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:241600 semapv:UnspecifiedMatching Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:604571 semapv:UnspecifiedMatching @@ -19224,10 +22482,13 @@ Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:604928 semapv:Unspecified Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref UMLS:C0043207 semapv:UnspecifiedMatching Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MESH:C536742 semapv:UnspecifiedMatching Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MedDRA:10082379 semapv:UnspecifiedMatching Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 semapv:UnspecifiedMatching Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref UMLS:C0342286 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref ICD10:G80.8 semapv:UnspecifiedMatching Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref ICD10:G80.8 semapv:UnspecifiedMatching Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref MESH:C536747 semapv:UnspecifiedMatching Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref OMIM:185480 semapv:UnspecifiedMatching @@ -19238,6 +22499,7 @@ Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:Unspe Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref MESH:C536751 semapv:UnspecifiedMatching Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref OMIM:194350 semapv:UnspecifiedMatching Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref UMLS:C1327917 semapv:UnspecifiedMatching +Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref icd11:3A70.0 semapv:UnspecifiedMatching Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching @@ -19250,10 +22512,12 @@ Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref OMIM:207770 semapv:U Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref UMLS:C0795952 semapv:UnspecifiedMatching Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref icd11:LD20.3 semapv:UnspecifiedMatching Orphanet:347 Frasier syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching Orphanet:347 Frasier syndrome oboInOwl:hasDbXref MESH:D052159 semapv:UnspecifiedMatching Orphanet:347 Frasier syndrome oboInOwl:hasDbXref MedDRA:10080313 semapv:UnspecifiedMatching Orphanet:347 Frasier syndrome oboInOwl:hasDbXref OMIM:136680 semapv:UnspecifiedMatching Orphanet:347 Frasier syndrome oboInOwl:hasDbXref UMLS:C0950122 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching Orphanet:3471 Young syndrome oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:3471 Young syndrome oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:3471 Young syndrome oboInOwl:hasDbXref MESH:C536718 semapv:UnspecifiedMatching @@ -19266,6 +22530,7 @@ Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspeci Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref MESH:C536719 semapv:UnspecifiedMatching Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS:C1857663 semapv:UnspecifiedMatching +Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref icd11:LD24.23 semapv:UnspecifiedMatching Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref MESH:C536725 semapv:UnspecifiedMatching @@ -19283,10 +22548,13 @@ Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref OMIM:280000 semapv:UnspecifiedMa Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref UMLS:C1848392 semapv:UnspecifiedMatching Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MESH:D015319 semapv:UnspecifiedMatching Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MedDRA:10081516 semapv:UnspecifiedMatching Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 semapv:UnspecifiedMatching Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS:C0016756 semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref icd11:5C51.5Y semapv:UnspecifiedMatching +Orphanet:349 Fucosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:349 Fucosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:349 Fucosidosis oboInOwl:hasDbXref MESH:D005645 semapv:UnspecifiedMatching Orphanet:349 Fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching @@ -19304,7 +22572,10 @@ Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref UMLS:C5680152 semapv:UnspecifiedMatching Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref ICD10:K72 semapv:UnspecifiedMatching +Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref ICD10:K72 semapv:UnspecifiedMatching Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref UMLS:C0276624 semapv:UnspecifiedMatching +Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref icd11:1E50.Y semapv:UnspecifiedMatching +Orphanet:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis oboInOwl:hasDbXref ICD10:B37 semapv:UnspecifiedMatching Orphanet:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis oboInOwl:hasDbXref ICD10:B37 semapv:UnspecifiedMatching Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching @@ -19324,12 +22595,15 @@ Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:1 Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:615529 semapv:UnspecifiedMatching Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680150 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:616602 semapv:UnspecifiedMatching Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref UMLS:C0221356 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:351 Galactosialidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:351 Galactosialidosis oboInOwl:hasDbXref MESH:C536411 semapv:UnspecifiedMatching Orphanet:351 Galactosialidosis oboInOwl:hasDbXref MedDRA:10083306 semapv:UnspecifiedMatching @@ -19341,25 +22615,34 @@ Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspecified Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref MESH:C566555 semapv:UnspecifiedMatching Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref OMIM:602398 semapv:UnspecifiedMatching Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref UMLS:C1865596 semapv:UnspecifiedMatching +Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref icd11:5C52.10 semapv:UnspecifiedMatching +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref MESH:C564859 semapv:UnspecifiedMatching Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref OMIM:266120 semapv:UnspecifiedMatching Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref UMLS:C1849507 semapv:UnspecifiedMatching +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching +Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref OMIM:200950 semapv:UnspecifiedMatching Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref UMLS:C0268410 semapv:UnspecifiedMatching Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C538139 semapv:UnspecifiedMatching Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MedDRA:10066387 semapv:UnspecifiedMatching Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS:C1283620 semapv:UnspecifiedMatching Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref icd11:5C61.2 semapv:UnspecifiedMatching Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MedDRA:10014985 semapv:UnspecifiedMatching +Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref icd11:LC02 semapv:UnspecifiedMatching +Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302960 semapv:UnspecifiedMatching Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282102 semapv:UnspecifiedMatching +Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:352 Galactosemia oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching Orphanet:352 Galactosemia oboInOwl:hasDbXref MedDRA:10017604 semapv:UnspecifiedMatching Orphanet:352 Galactosemia oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching @@ -19376,6 +22659,7 @@ Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:Unspecifie Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref OMIM:614739 semapv:UnspecifiedMatching Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref UMLS:C4040739 semapv:UnspecifiedMatching Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref OMIM:614457 semapv:UnspecifiedMatching Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref UMLS:C3280856 semapv:UnspecifiedMatching Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching @@ -19383,18 +22667,22 @@ Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInO Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:615386 semapv:UnspecifiedMatching Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref UMLS:C4706415 semapv:UnspecifiedMatching Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref OMIM:615084 semapv:UnspecifiedMatching Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref UMLS:C4707098 semapv:UnspecifiedMatching Orphanet:352456 Mitochondrial DNA maintenance syndrome oboInOwl:hasDbXref UMLS:C5679930 semapv:UnspecifiedMatching Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref OMIM:615156 semapv:UnspecifiedMatching Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref UMLS:C5192959 semapv:UnspecifiedMatching Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref UMLS:C5190987 semapv:UnspecifiedMatching Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching +Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref OMIM:615834 semapv:UnspecifiedMatching Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref UMLS:C4749945 semapv:UnspecifiedMatching Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching @@ -19414,6 +22702,7 @@ Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref UMLS:C4750837 semapv:UnspecifiedMatching Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref OMIM:605021 semapv:UnspecifiedMatching Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0917800 semapv:UnspecifiedMatching Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching @@ -19421,6 +22710,7 @@ Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malfor Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref OMIM:605021 semapv:UnspecifiedMatching Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref UMLS:C4707306 semapv:UnspecifiedMatching Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref UMLS:C4706413 semapv:UnspecifiedMatching Orphanet:352613 Male infertility due to NANOS1 mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching @@ -19429,11 +22719,13 @@ Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 se Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749464 semapv:UnspecifiedMatching Orphanet:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref UMLS:C4749465 semapv:UnspecifiedMatching Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref UMLS:C4706412 semapv:UnspecifiedMatching Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref OMIM:618049 semapv:UnspecifiedMatching Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref UMLS:C4303546 semapv:UnspecifiedMatching Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching @@ -19441,11 +22733,13 @@ Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spast Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref OMIM:615491 semapv:UnspecifiedMatching Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref UMLS:C4749947 semapv:UnspecifiedMatching Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref MESH:C562551 semapv:UnspecifiedMatching Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref OMIM:127600 semapv:UnspecifiedMatching Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref UMLS:C0265966 semapv:UnspecifiedMatching Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref icd11:DA02.0 semapv:UnspecifiedMatching Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref OMIM:615225 semapv:UnspecifiedMatching Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref UMLS:C4751001 semapv:UnspecifiedMatching Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -19453,10 +22747,12 @@ Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac def Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref OMIM:616580 semapv:UnspecifiedMatching Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref UMLS:C5679925 semapv:UnspecifiedMatching Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref OMIM:615185 semapv:UnspecifiedMatching Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref UMLS:C4749463 semapv:UnspecifiedMatching Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:300905 semapv:UnspecifiedMatching Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref UMLS:C3806702 semapv:UnspecifiedMatching Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -19465,6 +22761,7 @@ Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref UMLS:C5191415 semapv:UnspecifiedMatching Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies oboInOwl:hasDbXref UMLS:C5679924 semapv:UnspecifiedMatching Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref OMIM:615139 semapv:UnspecifiedMatching Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref UMLS:C4749948 semapv:UnspecifiedMatching Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -19472,56 +22769,73 @@ Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect ob Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref OMIM:615147 semapv:UnspecifiedMatching Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref UMLS:C4751000 semapv:UnspecifiedMatching Orphanet:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref UMLS:C4304022 semapv:UnspecifiedMatching Orphanet:352728 Disorder of melanin metabolism oboInOwl:hasDbXref UMLS:C5680988 semapv:UnspecifiedMatching Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref MESH:C537728 semapv:UnspecifiedMatching Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C0268494 semapv:UnspecifiedMatching Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C5679923 semapv:UnspecifiedMatching Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref MESH:C564645 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C1847132 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:352740 Ocular albinism with congenital sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352740 Ocular albinism with congenital sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref OMIM:615179 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref UMLS:C3808786 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:352763 Scleredema oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:352763 Scleredema oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching Orphanet:352763 Scleredema oboInOwl:hasDbXref MedDRA:10055953 semapv:UnspecifiedMatching +Orphanet:352763 Scleredema oboInOwl:hasDbXref icd11:EE7Y semapv:UnspecifiedMatching +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref MESH:C535900 semapv:UnspecifiedMatching Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref OMIM:253700 semapv:UnspecifiedMatching Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref UMLS:C0410173 semapv:UnspecifiedMatching +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref OMIM:612949 semapv:UnspecifiedMatching Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref UMLS:C4512050 semapv:UnspecifiedMatching Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref icd11:5C53.30 semapv:UnspecifiedMatching Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:105250 semapv:UnspecifiedMatching Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:613955 semapv:UnspecifiedMatching Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C5679926 semapv:UnspecifiedMatching Orphanet:353225 NON RARE IN EUROPE: Primary adult open-angle glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:353225 NON RARE IN EUROPE: Primary adult open-angle glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref ICD10:K14.6 semapv:UnspecifiedMatching Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref ICD10:K14.6 semapv:UnspecifiedMatching Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref MESH:D002054 semapv:UnspecifiedMatching Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref MedDRA:10068065 semapv:UnspecifiedMatching Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref UMLS:C0006430 semapv:UnspecifiedMatching +Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref icd11:DA0F.0 semapv:UnspecifiedMatching +Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref UMLS:C5681840 semapv:UnspecifiedMatching Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching @@ -19529,20 +22843,29 @@ Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref MESH:C535866 semapv:Unspecif Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref OMIM:616651 semapv:UnspecifiedMatching Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref UMLS:C1846059 semapv:UnspecifiedMatching Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref UMLS:C5679928 semapv:UnspecifiedMatching +Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref icd11:5C53.03 semapv:UnspecifiedMatching +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref UMLS:C5679929 semapv:UnspecifiedMatching +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref icd11:5C53.03 semapv:UnspecifiedMatching +Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref UMLS:C5679927 semapv:UnspecifiedMatching +Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref icd11:5C53.03 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:610542 semapv:UnspecifiedMatching Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:614750 semapv:UnspecifiedMatching Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:616228 semapv:UnspecifiedMatching Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref UMLS:C5680989 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref icd11:8C61 semapv:UnspecifiedMatching +Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref MedDRA:10038824 semapv:UnspecifiedMatching Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref UMLS:C0521570 semapv:UnspecifiedMatching @@ -19555,8 +22878,10 @@ Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref ICD1 Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref UMLS:C4751436 semapv:UnspecifiedMatching Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref icd11:9B75.3 semapv:UnspecifiedMatching Orphanet:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching +Orphanet:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching Orphanet:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref UMLS:C4749792 semapv:UnspecifiedMatching Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 semapv:UnspecifiedMatching Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching @@ -19564,6 +22889,7 @@ Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230650 semapv:Unspecifie Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C0085131 semapv:UnspecifiedMatching Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:355 Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:355 Gaucher disease oboInOwl:hasDbXref MESH:D005776 semapv:UnspecifiedMatching Orphanet:355 Gaucher disease oboInOwl:hasDbXref MedDRA:10018048 semapv:UnspecifiedMatching Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching @@ -19573,11 +22899,15 @@ Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMa Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching Orphanet:355 Gaucher disease oboInOwl:hasDbXref UMLS:C0017205 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MedDRA:10072075 semapv:UnspecifiedMatching Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 semapv:UnspecifiedMatching Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS:C0017495 semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref icd11:8E02.1 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:600165 semapv:UnspecifiedMatching Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:609549 semapv:UnspecifiedMatching @@ -19585,25 +22915,32 @@ Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:611897 semapv:UnspecifiedMa Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:615972 semapv:UnspecifiedMatching Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref UMLS:C4274282 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref icd11:LA10.0 semapv:UnspecifiedMatching Orphanet:35656 Coenzyme Q10 deficiency oboInOwl:hasDbXref MESH:C564403 semapv:UnspecifiedMatching Orphanet:35656 Coenzyme Q10 deficiency oboInOwl:hasDbXref UMLS:C1843920 semapv:UnspecifiedMatching +Orphanet:35656 Coenzyme Q10 deficiency oboInOwl:hasDbXref icd11:5C53.22 semapv:UnspecifiedMatching Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching +Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref icd11:5C50.8 semapv:UnspecifiedMatching Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref MedDRA:10081652 semapv:UnspecifiedMatching Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref UMLS:C0729842 semapv:UnspecifiedMatching +Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref MESH:D031249 semapv:UnspecifiedMatching Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref MedDRA:10060801 semapv:UnspecifiedMatching Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref UMLS:C0878675 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref icd11:2B31.Y semapv:UnspecifiedMatching Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref icd11:XH1VJ3 semapv:UnspecifiedMatching Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref MedDRA:10036704 semapv:UnspecifiedMatching Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref UMLS:C0154682 semapv:UnspecifiedMatching +Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref icd11:8B60.4 semapv:UnspecifiedMatching Orphanet:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4755255 semapv:UnspecifiedMatching @@ -19625,6 +22962,7 @@ Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref OMIM:615493 semapv:UnspecifiedMatching Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref UMLS:C5192596 semapv:UnspecifiedMatching Orphanet:357 NON RARE IN EUROPE: Gilbert syndrome oboInOwl:hasDbXref ICD10:E80.4 semapv:UnspecifiedMatching +Orphanet:357 NON RARE IN EUROPE: Gilbert syndrome oboInOwl:hasDbXref ICD10:E80.4 semapv:UnspecifiedMatching Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref OMIM:613638 semapv:UnspecifiedMatching @@ -19634,66 +22972,84 @@ Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXre Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref UMLS:C5679921 semapv:UnspecifiedMatching Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref OMIM:605911 semapv:UnspecifiedMatching Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref UMLS:C4510940 semapv:UnspecifiedMatching +Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref icd11:5C52.02 semapv:UnspecifiedMatching Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref UMLS:C0751483 semapv:UnspecifiedMatching +Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref icd11:2D02.2 semapv:UnspecifiedMatching Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref UMLS:C5680987 semapv:UnspecifiedMatching +Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref icd11:2D02.2 semapv:UnspecifiedMatching Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref MESH:C567192 semapv:UnspecifiedMatching Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref OMIM:612718 semapv:UnspecifiedMatching Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref UMLS:C2675179 semapv:UnspecifiedMatching +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref icd11:5C53.4 semapv:UnspecifiedMatching Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref MESH:C566550 semapv:UnspecifiedMatching Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref OMIM:602433 semapv:UnspecifiedMatching Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref UMLS:C1865409 semapv:UnspecifiedMatching +Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref icd11:8B60.0 semapv:UnspecifiedMatching Orphanet:35705 Neurometabolic disorder due to serine deficiency oboInOwl:hasDbXref UMLS:C5680148 semapv:UnspecifiedMatching Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref MESH:C562632 semapv:UnspecifiedMatching Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref UMLS:C0268355 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching +Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref MESH:C562818 semapv:UnspecifiedMatching Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 semapv:UnspecifiedMatching Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref UMLS:C0342873 semapv:UnspecifiedMatching Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref MESH:C567855 semapv:UnspecifiedMatching Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref OMIM:612940 semapv:UnspecifiedMatching Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref UMLS:C2751987 semapv:UnspecifiedMatching +Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:617402 semapv:UnspecifiedMatching Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:617403 semapv:UnspecifiedMatching Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref UMLS:C5679922 semapv:UnspecifiedMatching Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MESH:C537437 semapv:UnspecifiedMatching Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MedDRA:10084110 semapv:UnspecifiedMatching Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 semapv:UnspecifiedMatching Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C1291564 semapv:UnspecifiedMatching Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref icd11:5C59.00 semapv:UnspecifiedMatching Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref MESH:C562602 semapv:UnspecifiedMatching Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref MedDRA:10066388 semapv:UnspecifiedMatching Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref OMIM:606824 semapv:UnspecifiedMatching Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref UMLS:C0268186 semapv:UnspecifiedMatching Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref icd11:5C61.0 semapv:UnspecifiedMatching Orphanet:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C1956395 semapv:UnspecifiedMatching Orphanet:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C1956396 semapv:UnspecifiedMatching Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref ICD10:K13.5 semapv:UnspecifiedMatching +Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref ICD10:K13.5 semapv:UnspecifiedMatching Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref MESH:D009914 semapv:UnspecifiedMatching Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref MedDRA:10031023 semapv:UnspecifiedMatching Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref UMLS:C0029172 semapv:UnspecifiedMatching +Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref icd11:DA02.2 semapv:UnspecifiedMatching Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref OMIM:602562 semapv:UnspecifiedMatching @@ -19703,21 +23059,28 @@ Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrom Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615162 semapv:UnspecifiedMatching Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4750957 semapv:UnspecifiedMatching Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref UMLS:C4707327 semapv:UnspecifiedMatching +Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref icd11:EE7Y semapv:UnspecifiedMatching +Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref UMLS:C4755295 semapv:UnspecifiedMatching +Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref icd11:EE7Y semapv:UnspecifiedMatching Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref OMIM:615206 semapv:UnspecifiedMatching Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref UMLS:C4749949 semapv:UnspecifiedMatching Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref OMIM:615207 semapv:UnspecifiedMatching Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref UMLS:C5191307 semapv:UnspecifiedMatching Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref OMIM:615170 semapv:UnspecifiedMatching Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref UMLS:C3554611 semapv:UnspecifiedMatching Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref MedDRA:10027974 semapv:UnspecifiedMatching Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref UMLS:C3554721 semapv:UnspecifiedMatching @@ -19735,11 +23098,14 @@ Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref MESH:C56284 Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref MedDRA:10061893 semapv:UnspecifiedMatching Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref UMLS:C0346180 semapv:UnspecifiedMatching +Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref ICD10:D51.1 semapv:UnspecifiedMatching Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref ICD10:D51.1 semapv:UnspecifiedMatching Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref MESH:C538556 semapv:UnspecifiedMatching Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:618882 semapv:UnspecifiedMatching Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref UMLS:C4551825 semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref icd11:3A01.Y semapv:UnspecifiedMatching Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref MESH:C538375 semapv:UnspecifiedMatching @@ -19749,6 +23115,8 @@ Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref icd11: Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.0 semapv:UnspecifiedMatching Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.0 semapv:UnspecifiedMatching Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.1 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.1 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.2 semapv:UnspecifiedMatching Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.2 semapv:UnspecifiedMatching Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref UMLS:C0029100 semapv:UnspecifiedMatching Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref icd11:6C43.3 semapv:UnspecifiedMatching @@ -19766,12 +23134,14 @@ Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref MedDRA:10073489 semapv:Unspecif Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref UMLS:C0266464 semapv:UnspecifiedMatching Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref MESH:D055673 semapv:UnspecifiedMatching Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref MedDRA:10083865 semapv:UnspecifiedMatching Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref UMLS:C0796147 semapv:UnspecifiedMatching Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:360 Glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:360 Glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching Orphanet:360 Glioblastoma oboInOwl:hasDbXref MedDRA:10018336 semapv:UnspecifiedMatching Orphanet:360 Glioblastoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching @@ -19788,6 +23158,8 @@ Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:609197 s Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:614736 semapv:UnspecifiedMatching Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:617825 semapv:UnspecifiedMatching Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref UMLS:C4054695 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching +Orphanet:362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching Orphanet:362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching Orphanet:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MESH:D008201 semapv:UnspecifiedMatching Orphanet:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MedDRA:10025213 semapv:UnspecifiedMatching @@ -19797,6 +23169,8 @@ Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 sem Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044248 semapv:UnspecifiedMatching Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref UMLS:C0600327 semapv:UnspecifiedMatching +Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref icd11:1C45 semapv:UnspecifiedMatching +Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref ICD10:A38 semapv:UnspecifiedMatching Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref ICD10:A38 semapv:UnspecifiedMatching Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref MedDRA:10039587 semapv:UnspecifiedMatching Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref icd11:EA50.3 semapv:UnspecifiedMatching @@ -19814,14 +23188,18 @@ Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref ICD10:J15 Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref ICD10:J15.2 semapv:UnspecifiedMatching Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref UMLS:C4706659 semapv:UnspecifiedMatching Orphanet:36258 Buerger disease oboInOwl:hasDbXref ICD10:I73.1 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref ICD10:I73.1 semapv:UnspecifiedMatching Orphanet:36258 Buerger disease oboInOwl:hasDbXref MESH:D013919 semapv:UnspecifiedMatching Orphanet:36258 Buerger disease oboInOwl:hasDbXref MedDRA:10043540 semapv:UnspecifiedMatching Orphanet:36258 Buerger disease oboInOwl:hasDbXref OMIM:211480 semapv:UnspecifiedMatching Orphanet:36258 Buerger disease oboInOwl:hasDbXref UMLS:C0040021 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref icd11:4A44.8 semapv:UnspecifiedMatching +Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref UMLS:C4303226 semapv:UnspecifiedMatching Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref icd11:2B72.0 semapv:UnspecifiedMatching Orphanet:36297 NON RARE IN EUROPE: Anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching +Orphanet:36297 NON RARE IN EUROPE: Anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching Orphanet:363189 Congenital anomaly of the great veins oboInOwl:hasDbXref UMLS:C0158632 semapv:UnspecifiedMatching Orphanet:363203 Ring chromosome oboInOwl:hasDbXref MESH:D012303 semapv:UnspecifiedMatching Orphanet:363203 Ring chromosome oboInOwl:hasDbXref MedDRA:10081894 semapv:UnspecifiedMatching @@ -19832,6 +23210,7 @@ Orphanet:363300 Genetic intractable diarrhea of infancy oboInOwl:hasDbXref UMLS: Orphanet:363306 Genetic intestinal disease due to fat malabsorption oboInOwl:hasDbXref UMLS:C5680981 semapv:UnspecifiedMatching Orphanet:363314 Genetic intestinal polyposis oboInOwl:hasDbXref UMLS:C2713443 semapv:UnspecifiedMatching Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 semapv:UnspecifiedMatching Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5679919 semapv:UnspecifiedMatching Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching @@ -19839,12 +23218,15 @@ Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:ha Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref OMIM:615924 semapv:UnspecifiedMatching Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref UMLS:C4750956 semapv:UnspecifiedMatching Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref OMIM:615368 semapv:UnspecifiedMatching Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref UMLS:C4706410 semapv:UnspecifiedMatching Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref OMIM:615281 semapv:UnspecifiedMatching Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref UMLS:C4755254 semapv:UnspecifiedMatching Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref MESH:C536958 semapv:UnspecifiedMatching Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref OMIM:605282 semapv:UnspecifiedMatching Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1854466 semapv:UnspecifiedMatching @@ -19877,7 +23259,10 @@ Orphanet:363472 Tumor of testis and paratestis oboInOwl:hasDbXref UMLS:C5679920 Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.1 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.1 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.2 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.2 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.7 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.7 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.8 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.8 semapv:UnspecifiedMatching @@ -19889,6 +23274,8 @@ Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref MedDRA:10073120 semapv:Un Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref UMLS:C0238451 semapv:UnspecifiedMatching Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref icd11:2C80.2 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref icd11:2F34 semapv:UnspecifiedMatching +Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref UMLS:C3840076 semapv:UnspecifiedMatching Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref ICD10:C62.1 semapv:UnspecifiedMatching @@ -19900,6 +23287,7 @@ Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref MedDRA:10075811 sem Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref UMLS:C1336708 semapv:UnspecifiedMatching Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615328 semapv:UnspecifiedMatching Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C3809160 semapv:UnspecifiedMatching Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching @@ -19912,11 +23300,14 @@ Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ob Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref UMLS:C5190602 semapv:UnspecifiedMatching Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref OMIM:615651 semapv:UnspecifiedMatching Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref UMLS:C4554120 semapv:UnspecifiedMatching Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref UMLS:C4707658 semapv:UnspecifiedMatching Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching @@ -19935,6 +23326,7 @@ Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXre Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref UMLS:C4750858 semapv:UnspecifiedMatching Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref OMIM:615352 semapv:UnspecifiedMatching Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref UMLS:C4518000 semapv:UnspecifiedMatching Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching @@ -19942,6 +23334,7 @@ Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:615381 semapv:UnspecifiedMatching Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref UMLS:C3715192 semapv:UnspecifiedMatching Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref OMIM:300911 semapv:UnspecifiedMatching Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref UMLS:C3806722 semapv:UnspecifiedMatching Orphanet:363659 20q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -19955,6 +23348,8 @@ Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref ICD10:Q93.5 semapv:Unspecif Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref OMIM:612337 semapv:UnspecifiedMatching Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref UMLS:C4273897 semapv:UnspecifiedMatching +Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref icd11:LD44.10 semapv:UnspecifiedMatching +Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref UMLS:C5192594 semapv:UnspecifiedMatching @@ -19981,14 +23376,18 @@ Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 se Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref OMIM:615945 semapv:UnspecifiedMatching Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref UMLS:C3889636 semapv:UnspecifiedMatching +Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref UMLS:C5679915 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref icd11:8A44.2 semapv:UnspecifiedMatching Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref UMLS:C5679914 semapv:UnspecifiedMatching Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref OMIM:300835 semapv:UnspecifiedMatching Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref UMLS:C5190600 semapv:UnspecifiedMatching Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -19999,11 +23398,14 @@ Orphanet:363746 Balint syndrome oboInOwl:hasDbXref ICD10:H51.8 semapv:Unspecifie Orphanet:363746 Balint syndrome oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching Orphanet:363746 Balint syndrome oboInOwl:hasDbXref MedDRA:10057375 semapv:UnspecifiedMatching Orphanet:363746 Balint syndrome oboInOwl:hasDbXref UMLS:C4707368 semapv:UnspecifiedMatching +Orphanet:363746 Balint syndrome oboInOwl:hasDbXref icd11:9C82.4 semapv:UnspecifiedMatching +Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref UMLS:C4755308 semapv:UnspecifiedMatching Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref UMLS:C4755307 semapv:UnspecifiedMatching Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching @@ -20015,6 +23417,7 @@ Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDb Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS:C0020071 semapv:UnspecifiedMatching Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref icd11:8C21.0 semapv:UnspecifiedMatching Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref MESH:C565808 semapv:UnspecifiedMatching Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604233 semapv:UnspecifiedMatching Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604403 semapv:UnspecifiedMatching @@ -20041,14 +23444,17 @@ Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbX Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5680974 semapv:UnspecifiedMatching +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref UMLS:C4755252 semapv:UnspecifiedMatching Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref MedDRA:10001294 semapv:UnspecifiedMatching Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref UMLS:C0001529 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref icd11:EF02.1 semapv:UnspecifiedMatching Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:613563 semapv:UnspecifiedMatching @@ -20062,6 +23468,7 @@ Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:2F9B semapv:Un Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:XH0492 semapv:UnspecifiedMatching Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:XH4TC2 semapv:UnspecifiedMatching Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref OMIM:615284 semapv:UnspecifiedMatching Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref UMLS:C3695063 semapv:UnspecifiedMatching Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -20077,6 +23484,8 @@ Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref UMLS:C0455988 semapv:UnspecifiedMatching +Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref icd11:KC41.1 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref MESH:D005953 semapv:UnspecifiedMatching Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref MedDRA:10018464 semapv:UnspecifiedMatching @@ -20086,7 +23495,9 @@ Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency ob Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref UMLS:C0017920 semapv:UnspecifiedMatching Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:364013 Immune hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching +Orphanet:364013 Immune hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching Orphanet:364013 Immune hydrops fetalis oboInOwl:hasDbXref UMLS:C0455990 semapv:UnspecifiedMatching +Orphanet:364013 Immune hydrops fetalis oboInOwl:hasDbXref icd11:KA85.0 semapv:UnspecifiedMatching Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref OMIM:300699 semapv:UnspecifiedMatching @@ -20096,19 +23507,24 @@ Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref UMLS:C4303422 semapv:UnspecifiedMatching Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching +Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref UMLS:C1708397 semapv:UnspecifiedMatching Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1333294 semapv:UnspecifiedMatching +Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref icd11:2A81.8 semapv:UnspecifiedMatching Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref icd11:XH1EB9 semapv:UnspecifiedMatching Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref MESH:C565741 semapv:UnspecifiedMatching Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref UMLS:C1858080 semapv:UnspecifiedMatching Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref MESH:C567924 semapv:UnspecifiedMatching Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref UMLS:C4552072 semapv:UnspecifiedMatching Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching +Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref UMLS:C0343206 semapv:UnspecifiedMatching Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref icd11:4A44.91 semapv:UnspecifiedMatching Orphanet:364198 Bipartite talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching @@ -20141,6 +23557,7 @@ Orphanet:364803 Rare bone disease related to a common gene or pathway defect obo Orphanet:364817 Aggrecan-related bone disorder oboInOwl:hasDbXref UMLS:C5680976 semapv:UnspecifiedMatching Orphanet:364820 TRPV4-related bone disorder oboInOwl:hasDbXref UMLS:C5680977 semapv:UnspecifiedMatching Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MESH:D006009 semapv:UnspecifiedMatching Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MedDRA:10053185 semapv:UnspecifiedMatching Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching @@ -20148,12 +23565,14 @@ Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:ha Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:365563 Primary short bowel syndrome oboInOwl:hasDbXref UMLS:C5680971 semapv:UnspecifiedMatching Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref MESH:D006010 semapv:UnspecifiedMatching Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053250 semapv:UnspecifiedMatching Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref OMIM:232400 semapv:UnspecifiedMatching Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017922 semapv:UnspecifiedMatching Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref MESH:D006011 semapv:UnspecifiedMatching Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053249 semapv:UnspecifiedMatching Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching @@ -20161,6 +23580,7 @@ Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficienc Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017923 semapv:UnspecifiedMatching Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:D006012 semapv:UnspecifiedMatching Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10018462 semapv:UnspecifiedMatching Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232600 semapv:UnspecifiedMatching @@ -20173,6 +23593,8 @@ Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref MedDRA:10084572 se Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:159900 semapv:UnspecifiedMatching Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:616398 semapv:UnspecifiedMatching Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref UMLS:C1834570 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref icd11:8A02.11 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:D006013 semapv:UnspecifiedMatching Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10053240 semapv:UnspecifiedMatching @@ -20188,6 +23610,7 @@ Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-ske Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:615398 semapv:UnspecifiedMatching Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4749459 semapv:UnspecifiedMatching Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref UMLS:C4517996 semapv:UnspecifiedMatching Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching @@ -20199,9 +23622,11 @@ Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboIn Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref OMIM:615285 semapv:UnspecifiedMatching Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref UMLS:C4755251 semapv:UnspecifiedMatching Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref OMIM:616084 semapv:UnspecifiedMatching Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4707403 semapv:UnspecifiedMatching Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:615376 semapv:UnspecifiedMatching Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref UMLS:C4750846 semapv:UnspecifiedMatching Orphanet:369873 Obesity due to SIM1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching @@ -20257,14 +23682,18 @@ Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome ob Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref OMIM:615458 semapv:UnspecifiedMatching Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref UMLS:C4751602 semapv:UnspecifiedMatching Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome oboInOwl:hasDbXref UMLS:C5190599 semapv:UnspecifiedMatching Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref OMIM:615508 semapv:UnspecifiedMatching Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref UMLS:C3809719 semapv:UnspecifiedMatching Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref UMLS:C4755309 semapv:UnspecifiedMatching Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref MESH:C538178 semapv:UnspecifiedMatching Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref MedDRA:10000596 semapv:UnspecifiedMatching Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 semapv:UnspecifiedMatching @@ -20275,6 +23704,7 @@ Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency obo Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0268147 semapv:UnspecifiedMatching Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref UMLS:C4755302 semapv:UnspecifiedMatching Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -20303,27 +23733,34 @@ Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:Unspecif Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref UMLS:C4751601 semapv:UnspecifiedMatching Orphanet:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref UMLS:C4751600 semapv:UnspecifiedMatching Orphanet:370052 SCALP syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:370052 SCALP syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:370052 SCALP syndrome oboInOwl:hasDbXref UMLS:C4751599 semapv:UnspecifiedMatching Orphanet:370059 NEVADA syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:370059 NEVADA syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching Orphanet:370059 NEVADA syndrome oboInOwl:hasDbXref UMLS:C4751431 semapv:UnspecifiedMatching Orphanet:370068 Fetal anticonvulsant syndrome oboInOwl:hasDbXref MedDRA:10066485 semapv:UnspecifiedMatching Orphanet:370068 Fetal anticonvulsant syndrome oboInOwl:hasDbXref UMLS:C1739111 semapv:UnspecifiedMatching Orphanet:370076 Fetal carbamazepine syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:370076 Fetal carbamazepine syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:370076 Fetal carbamazepine syndrome oboInOwl:hasDbXref UMLS:C0432370 semapv:UnspecifiedMatching Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:614671 semapv:UnspecifiedMatching Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4707332 semapv:UnspecifiedMatching Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching +Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref OMIM:615438 semapv:UnspecifiedMatching Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref UMLS:C4751598 semapv:UnspecifiedMatching Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref OMIM:615312 semapv:UnspecifiedMatching Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref UMLS:C3888401 semapv:UnspecifiedMatching Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref OMIM:113750 semapv:UnspecifiedMatching Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref UMLS:C3805375 semapv:UnspecifiedMatching Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching @@ -20342,21 +23779,27 @@ Orphanet:370114 Combined cervical dystonia oboInOwl:hasDbXref ICD10:G11.3 semapv Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref UMLS:C4305375 semapv:UnspecifiedMatching +Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref MESH:C536702 semapv:UnspecifiedMatching Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref UMLS:C2931293 semapv:UnspecifiedMatching Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0279980 semapv:UnspecifiedMatching +Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref icd11:2B52.Y semapv:UnspecifiedMatching +Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref MESH:D018241 semapv:UnspecifiedMatching Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0684337 semapv:UnspecifiedMatching Orphanet:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref UMLS:C2212006 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MESH:C580192 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref UMLS:C0342288 semapv:UnspecifiedMatching @@ -20384,6 +23827,7 @@ Orphanet:370930 XYLT1-CDG oboInOwl:hasDbXref icd11:5C54.1 semapv:UnspecifiedMatc Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching +Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref icd11:5C54.Y semapv:UnspecifiedMatching Orphanet:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -20393,6 +23837,7 @@ Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInO Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy oboInOwl:hasDbXref UMLS:C5679911 semapv:UnspecifiedMatching Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613151 semapv:UnspecifiedMatching Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching @@ -20401,6 +23846,7 @@ Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInO Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref UMLS:C5190848 semapv:UnspecifiedMatching Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching @@ -20409,19 +23855,23 @@ Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboIn Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:618992 semapv:UnspecifiedMatching Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref UMLS:C5190846 semapv:UnspecifiedMatching Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:613152 semapv:UnspecifiedMatching Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref UMLS:C5190847 semapv:UnspecifiedMatching Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref OMIM:616538 semapv:UnspecifiedMatching Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref UMLS:C5191414 semapv:UnspecifiedMatching Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref MESH:D006014 semapv:UnspecifiedMatching Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref MedDRA:10053241 semapv:UnspecifiedMatching Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref OMIM:232800 semapv:UnspecifiedMatching Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref UMLS:C0017926 semapv:UnspecifiedMatching Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref UMLS:C4706389 semapv:UnspecifiedMatching Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan oboInOwl:hasDbXref UMLS:C2936406 semapv:UnspecifiedMatching Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan oboInOwl:hasDbXref UMLS:C5679905 semapv:UnspecifiedMatching @@ -20442,6 +23892,7 @@ Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboI Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:616801 semapv:UnspecifiedMatching Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref UMLS:C4706556 semapv:UnspecifiedMatching Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:259600 semapv:UnspecifiedMatching Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:277950 semapv:UnspecifiedMatching Orphanet:371433 Genetic periodic paralysis oboInOwl:hasDbXref UMLS:C5681151 semapv:UnspecifiedMatching @@ -20457,10 +23908,12 @@ Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref MedDRA:10011796 semapv:U Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C0282488 semapv:UnspecifiedMatching Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref icd11:GC00.3 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MESH:C537340 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MedDRA:10085695 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref UMLS:C4317043 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching @@ -20474,11 +23927,15 @@ Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref MESH:D Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref MedDRA:10018620 semapv:UnspecifiedMatching Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref OMIM:233450 semapv:UnspecifiedMatching Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref UMLS:C0403529 semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref icd11:MF85 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref MESH:D050030 semapv:UnspecifiedMatching Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref MedDRA:10083859 semapv:UnspecifiedMatching Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref OMIM:170390 semapv:UnspecifiedMatching Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS:C1563715 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching +Orphanet:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref UMLS:C0263486 semapv:UnspecifiedMatching Orphanet:376 Gordon syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching @@ -20486,11 +23943,13 @@ Orphanet:376 Gordon syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMa Orphanet:376 Gordon syndrome oboInOwl:hasDbXref MESH:C537288 semapv:UnspecifiedMatching Orphanet:376 Gordon syndrome oboInOwl:hasDbXref OMIM:114300 semapv:UnspecifiedMatching Orphanet:376 Gordon syndrome oboInOwl:hasDbXref UMLS:C0220666 semapv:UnspecifiedMatching +Orphanet:376 Gordon syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref MESH:C563278 semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref UMLS:C1719788 semapv:UnspecifiedMatching +Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref MedDRA:10029358 semapv:UnspecifiedMatching @@ -20524,6 +23983,7 @@ Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:618935 semapv Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref UMLS:C0018203 semapv:UnspecifiedMatching Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref MESH:C535653 semapv:UnspecifiedMatching Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref OMIM:101850 semapv:UnspecifiedMatching Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref UMLS:C0545044 semapv:UnspecifiedMatching @@ -20536,6 +23996,7 @@ Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref OMIM:175700 Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS:C0265306 semapv:UnspecifiedMatching Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref MedDRA:10081517 semapv:UnspecifiedMatching Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching @@ -20545,10 +24006,13 @@ Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref IC Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref MESH:C537622 semapv:UnspecifiedMatching Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref OMIM:612736 semapv:UnspecifiedMatching Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref UMLS:C0574080 semapv:UnspecifiedMatching +Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref icd11:5C53.4 semapv:UnspecifiedMatching +Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref UMLS:C1844678 semapv:UnspecifiedMatching Orphanet:384 Huriez syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:384 Huriez syndrome oboInOwl:hasDbXref MESH:C537526 semapv:UnspecifiedMatching Orphanet:384 Huriez syndrome oboInOwl:hasDbXref MedDRA:10070504 semapv:UnspecifiedMatching Orphanet:384 Huriez syndrome oboInOwl:hasDbXref OMIM:181600 semapv:UnspecifiedMatching @@ -20560,9 +24024,11 @@ Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref ICD10:D13.4 semapv:Unsp Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref MedDRA:10074610 semapv:UnspecifiedMatching Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref UMLS:C1333971 semapv:UnspecifiedMatching +Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref icd11:2E92.7 semapv:UnspecifiedMatching Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa oboInOwl:hasDbXref ICD10:L73.2 semapv:UnspecifiedMatching Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa oboInOwl:hasDbXref ICD10:L73.2 semapv:UnspecifiedMatching Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref MedDRA:10010539 semapv:UnspecifiedMatching Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:142623 semapv:UnspecifiedMatching @@ -20584,12 +24050,16 @@ Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref icd11:5C55.1 semapv:Unspe Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.0 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.0 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.5 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.5 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.6 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.6 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D006646 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MedDRA:10069698 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019621 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref icd11:2B31.2 semapv:UnspecifiedMatching Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref icd11:2B31.20 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref icd11:2B31.2Y semapv:UnspecifiedMatching Orphanet:39 Acromelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching Orphanet:39 Acromelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching Orphanet:39 Acromelanosis oboInOwl:hasDbXref UMLS:C0406779 semapv:UnspecifiedMatching @@ -20606,9 +24076,12 @@ Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.4 semapv:UnspecifiedMat Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.5 semapv:UnspecifiedMatching Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.5 semapv:UnspecifiedMatching Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.9 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.9 semapv:UnspecifiedMatching Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MedDRA:10020141 semapv:UnspecifiedMatching Orphanet:390 Histoplasmosis oboInOwl:hasDbXref UMLS:C0019655 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref icd11:1F2A semapv:UnspecifiedMatching +Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref MedDRA:10069097 semapv:UnspecifiedMatching Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref OMIM:603554 semapv:UnspecifiedMatching @@ -20634,6 +24107,8 @@ Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.3 semapv:Unsp Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.9 semapv:UnspecifiedMatching Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.9 semapv:UnspecifiedMatching Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:236000 semapv:UnspecifiedMatching Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:300221 semapv:UnspecifiedMatching @@ -20649,6 +24124,7 @@ Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref UMLS:C4755296 semapv:UnspecifiedMatching Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching +Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref UMLS:C4750853 semapv:UnspecifiedMatching Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching @@ -20664,12 +24140,14 @@ Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref ICD10:M8 Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref OMIM:300910 semapv:UnspecifiedMatching Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref UMLS:C5190610 semapv:UnspecifiedMatching Orphanet:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref UMLS:C4751597 semapv:UnspecifiedMatching Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:615578 semapv:UnspecifiedMatching Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref UMLS:C4751596 semapv:UnspecifiedMatching Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:616684 semapv:UnspecifiedMatching Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C4225246 semapv:UnspecifiedMatching Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome oboInOwl:hasDbXref ICD10:K73.8 semapv:UnspecifiedMatching @@ -20685,13 +24163,19 @@ Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebr Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C3809971 semapv:UnspecifiedMatching Orphanet:391381 Disorder of asparagine metabolism oboInOwl:hasDbXref UMLS:C5681155 semapv:UnspecifiedMatching Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching +Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref UMLS:C5190598 semapv:UnspecifiedMatching +Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref icd11:MG31.Y semapv:UnspecifiedMatching +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref icd11:MG31.Y semapv:UnspecifiedMatching +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref icd11:MG31.Y semapv:UnspecifiedMatching Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref OMIM:615548 semapv:UnspecifiedMatching @@ -20702,6 +24186,7 @@ Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset di Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616817 semapv:UnspecifiedMatching Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref UMLS:C5190597 semapv:UnspecifiedMatching Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615530 semapv:UnspecifiedMatching Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref UMLS:C4510873 semapv:UnspecifiedMatching @@ -20710,26 +24195,33 @@ Orphanet:391417 HSD10 disease oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedM Orphanet:391417 HSD10 disease oboInOwl:hasDbXref MESH:C564560 semapv:UnspecifiedMatching Orphanet:391417 HSD10 disease oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching Orphanet:391417 HSD10 disease oboInOwl:hasDbXref UMLS:C3266731 semapv:UnspecifiedMatching +Orphanet:391417 HSD10 disease oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref UMLS:C5680025 semapv:UnspecifiedMatching +Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref UMLS:C5680026 semapv:UnspecifiedMatching +Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:391474 Frontorhiny oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:391474 Frontorhiny oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:391474 Frontorhiny oboInOwl:hasDbXref OMIM:136760 semapv:UnspecifiedMatching Orphanet:391474 Frontorhiny oboInOwl:hasDbXref UMLS:C5574965 semapv:UnspecifiedMatching Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching +Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref UMLS:C4302671 semapv:UnspecifiedMatching Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref UMLS:C5680024 semapv:UnspecifiedMatching +Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref icd11:8C60 semapv:UnspecifiedMatching Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref UMLS:C5680023 semapv:UnspecifiedMatching +Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref icd11:8C60 semapv:UnspecifiedMatching Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref ICD10:P94.0 semapv:UnspecifiedMatching Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref ICD10:P94.0 semapv:UnspecifiedMatching Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref UMLS:C0495465 semapv:UnspecifiedMatching @@ -20749,8 +24241,10 @@ Orphanet:391651 Glomus tumor oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedM Orphanet:391651 Glomus tumor oboInOwl:hasDbXref UMLS:C0017653 semapv:UnspecifiedMatching Orphanet:391651 Glomus tumor oboInOwl:hasDbXref icd11:2E81.0Z semapv:UnspecifiedMatching Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref UMLS:C5681154 semapv:UnspecifiedMatching Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref MESH:D000090542 semapv:UnspecifiedMatching Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref MedDRA:10057080 semapv:UnspecifiedMatching Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching @@ -20762,6 +24256,8 @@ Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:Un Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:UnspecifiedMatching Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref MESH:D020345 semapv:UnspecifiedMatching Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref UMLS:C0520459 semapv:UnspecifiedMatching +Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref icd11:KB88 semapv:UnspecifiedMatching +Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref OMIM:614800 semapv:UnspecifiedMatching Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref UMLS:C3541319 semapv:UnspecifiedMatching @@ -20770,33 +24266,43 @@ Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref ICD10 Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref MedDRA:10073361 semapv:UnspecifiedMatching Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref UMLS:C1706832 semapv:UnspecifiedMatching +Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref icd11:2B81.00 semapv:UnspecifiedMatching Orphanet:391799 Rare genetic dystonia oboInOwl:hasDbXref UMLS:C5680022 semapv:UnspecifiedMatching Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref MESH:C535326 semapv:UnspecifiedMatching Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref MedDRA:10050469 semapv:UnspecifiedMatching Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref UMLS:C0265264 semapv:UnspecifiedMatching Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref MESH:D058531 semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref MedDRA:10087158 semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:278850 semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:300833 semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref UMLS:C2936419 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref MedDRA:10071093 semapv:UnspecifiedMatching Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref UMLS:C0751202 semapv:UnspecifiedMatching Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:255100 semapv:UnspecifiedMatching Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref UMLS:C5680029 semapv:UnspecifiedMatching +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref OMIM:255100 semapv:UnspecifiedMatching Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref UMLS:C5680028 semapv:UnspecifiedMatching +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref MESH:C537357 semapv:UnspecifiedMatching Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref MedDRA:10070309 semapv:UnspecifiedMatching @@ -20804,9 +24310,11 @@ Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficien Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref UMLS:C1856061 semapv:UnspecifiedMatching Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref icd11:5C63.1 semapv:UnspecifiedMatching Orphanet:396 Chronic hiccup oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:396 Chronic hiccup oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:396 Chronic hiccup oboInOwl:hasDbXref UMLS:C0744898 semapv:UnspecifiedMatching Orphanet:396 Chronic hiccup oboInOwl:hasDbXref icd11:8A06.21 semapv:UnspecifiedMatching Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref ICD10:M31.6 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref ICD10:M31.6 semapv:UnspecifiedMatching Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MedDRA:10018250 semapv:UnspecifiedMatching Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching @@ -20815,6 +24323,8 @@ Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref icd11:4A44.2 semapv:Unspeci Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref ICD10:B35.8 semapv:UnspecifiedMatching Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref ICD10:B35.8 semapv:UnspecifiedMatching Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref UMLS:C1395264 semapv:UnspecifiedMatching +Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref icd11:1F28.Y semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616489 semapv:UnspecifiedMatching Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618907 semapv:UnspecifiedMatching @@ -20826,6 +24336,7 @@ Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex defici Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref OMIM:615595 semapv:UnspecifiedMatching Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref UMLS:C4750855 semapv:UnspecifiedMatching Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref MESH:C585640 semapv:UnspecifiedMatching Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:616005 semapv:UnspecifiedMatching @@ -20834,6 +24345,7 @@ Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref ICD10:G60.8 semapv:U Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref UMLS:C4518776 semapv:UnspecifiedMatching Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q75.3 semapv:UnspecifiedMatching +Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q75.3 semapv:UnspecifiedMatching Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref OMIM:615637 semapv:UnspecifiedMatching Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4706573 semapv:UnspecifiedMatching Orphanet:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching @@ -20846,15 +24358,18 @@ Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segmen Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref OMIM:609218 semapv:UnspecifiedMatching Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref UMLS:C5190596 semapv:UnspecifiedMatching Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:602471 semapv:UnspecifiedMatching Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4751574 semapv:UnspecifiedMatching Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref ICD10:E22.1 semapv:UnspecifiedMatching +Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref ICD10:E22.1 semapv:UnspecifiedMatching Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref OMIM:615555 semapv:UnspecifiedMatching Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref UMLS:C4706551 semapv:UnspecifiedMatching Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref UMLS:C5190891 semapv:UnspecifiedMatching +Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref icd11:3A70.0 semapv:UnspecifiedMatching Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749427 semapv:UnspecifiedMatching @@ -20872,14 +24387,18 @@ Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref IC Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:615643 semapv:UnspecifiedMatching Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref UMLS:C4517377 semapv:UnspecifiedMatching Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref OMIM:616280 semapv:UnspecifiedMatching Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref UMLS:C4084821 semapv:UnspecifiedMatching Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref OMIM:614369 semapv:UnspecifiedMatching Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref UMLS:C5190594 semapv:UnspecifiedMatching Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref UMLS:C4751573 semapv:UnspecifiedMatching Orphanet:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref UMLS:C4751572 semapv:UnspecifiedMatching Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -20896,6 +24415,7 @@ Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref ICD10:G23.0 Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref OMIM:301072 semapv:UnspecifiedMatching Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref UMLS:C4751570 semapv:UnspecifiedMatching Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref OMIM:615709 semapv:UnspecifiedMatching Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref UMLS:C4751569 semapv:UnspecifiedMatching Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -20903,6 +24423,7 @@ Orphanet:397933 Severe intellectual disability-progressive postnatal microcephal Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref OMIM:309530 semapv:UnspecifiedMatching Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref UMLS:C4751568 semapv:UnspecifiedMatching Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref OMIM:615895 semapv:UnspecifiedMatching Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref UMLS:C4014605 semapv:UnspecifiedMatching Orphanet:397941 MAN1B1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -20917,12 +24438,15 @@ Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndro Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615599 semapv:UnspecifiedMatching Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4749429 semapv:UnspecifiedMatching Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref UMLS:C5680027 semapv:UnspecifiedMatching Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref OMIM:615468 semapv:UnspecifiedMatching Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref UMLS:C4750906 semapv:UnspecifiedMatching Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 semapv:UnspecifiedMatching Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref UMLS:C3809655 semapv:UnspecifiedMatching Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -20942,6 +24466,8 @@ Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semap Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref UMLS:C2212153 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching @@ -20951,17 +24477,22 @@ Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C6 Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref MedDRA:10059631 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref UMLS:C0238348 semapv:UnspecifiedMatching Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref icd11:2C81.0 semapv:UnspecifiedMatching Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching +Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref UMLS:C4749333 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C5575066 semapv:UnspecifiedMatching Orphanet:398073 Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C3809877 semapv:UnspecifiedMatching Orphanet:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C5680040 semapv:UnspecifiedMatching Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching @@ -20978,26 +24509,32 @@ Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:U Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref UMLS:C4751516 semapv:UnspecifiedMatching Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref MESH:D006086 semapv:UnspecifiedMatching Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref MedDRA:10018651 semapv:UnspecifiedMatching Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref OMIM:614395 semapv:UnspecifiedMatching Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref UMLS:C0018133 semapv:UnspecifiedMatching Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref icd11:4B24 semapv:UnspecifiedMatching Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref MESH:C536397 semapv:UnspecifiedMatching Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref MedDRA:10057887 semapv:UnspecifiedMatching Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref UMLS:C0409979 semapv:UnspecifiedMatching Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref icd11:KA07.0 semapv:UnspecifiedMatching Orphanet:398127 Neonatal scleroderma oboInOwl:hasDbXref ICD10:P83.8 semapv:UnspecifiedMatching +Orphanet:398127 Neonatal scleroderma oboInOwl:hasDbXref ICD10:P83.8 semapv:UnspecifiedMatching Orphanet:398127 Neonatal scleroderma oboInOwl:hasDbXref UMLS:C4509425 semapv:UnspecifiedMatching Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref ICD10:G50.1 semapv:UnspecifiedMatching +Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref ICD10:G50.1 semapv:UnspecifiedMatching Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref UMLS:C5191641 semapv:UnspecifiedMatching +Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref icd11:8A85 semapv:UnspecifiedMatching Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref MESH:C537865 semapv:UnspecifiedMatching Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref OMIM:601452 semapv:UnspecifiedMatching Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref UMLS:C1832352 semapv:UnspecifiedMatching Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref MESH:D000090303 semapv:UnspecifiedMatching Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:136500 semapv:UnspecifiedMatching Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:227260 semapv:UnspecifiedMatching @@ -21006,50 +24543,67 @@ Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:614974 sem Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref UMLS:C2936827 semapv:UnspecifiedMatching Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref OMIM:614973 semapv:UnspecifiedMatching Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref UMLS:C3554245 semapv:UnspecifiedMatching Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref OMIM:614974 semapv:UnspecifiedMatching Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:398934 Malignant epithelial tumor of ovary oboInOwl:hasDbXref MedDRA:10061328 semapv:UnspecifiedMatching Orphanet:398934 Malignant epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C0677886 semapv:UnspecifiedMatching Orphanet:398940 Malignant non-epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C5680039 semapv:UnspecifiedMatching Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C4518746 semapv:UnspecifiedMatching +Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref icd11:2C73.04 semapv:UnspecifiedMatching +Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref UMLS:C1518693 semapv:UnspecifiedMatching Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref icd11:2C73.00 semapv:UnspecifiedMatching Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref UMLS:C0346182 semapv:UnspecifiedMatching +Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref icd11:2C73.3 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:399 Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:399 Huntington disease oboInOwl:hasDbXref MESH:D006816 semapv:UnspecifiedMatching Orphanet:399 Huntington disease oboInOwl:hasDbXref MedDRA:10070668 semapv:UnspecifiedMatching Orphanet:399 Huntington disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching Orphanet:399 Huntington disease oboInOwl:hasDbXref UMLS:C0020179 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref icd11:8A01.10 semapv:UnspecifiedMatching +Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref OMIM:608810 semapv:UnspecifiedMatching Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref UMLS:C5191079 semapv:UnspecifiedMatching Orphanet:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref UMLS:C4706574 semapv:UnspecifiedMatching Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref MESH:C566445 semapv:UnspecifiedMatching Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref OMIM:610099 semapv:UnspecifiedMatching Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref UMLS:C1864706 semapv:UnspecifiedMatching Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref MESH:C567645 semapv:UnspecifiedMatching Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref OMIM:613319 semapv:UnspecifiedMatching Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref UMLS:C2750076 semapv:UnspecifiedMatching Orphanet:399103 Distal nebulin myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399103 Distal nebulin myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:399103 Distal nebulin myopathy oboInOwl:hasDbXref UMLS:C5190827 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref ICD10:M87 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref ICD10:M87 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref MESH:D010020 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref MedDRA:10031264 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref UMLS:C0029445 semapv:UnspecifiedMatching +Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref icd11:FB81 semapv:UnspecifiedMatching +Orphanet:399164 Avascular necrosis oboInOwl:hasDbXref icd11:FB81 semapv:UnspecifiedMatching Orphanet:399169 Secondary avascular necrosis oboInOwl:hasDbXref UMLS:C5680036 semapv:UnspecifiedMatching Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 semapv:UnspecifiedMatching Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 semapv:UnspecifiedMatching +Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref icd11:FB81.3 semapv:UnspecifiedMatching Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.1 semapv:UnspecifiedMatching Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.1 semapv:UnspecifiedMatching Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.3 semapv:UnspecifiedMatching @@ -21060,14 +24614,18 @@ Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref ICD10:K10.2 semapv:U Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref MedDRA:10064658 semapv:UnspecifiedMatching Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref UMLS:C2711248 semapv:UnspecifiedMatching +Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref icd11:DA06.0 semapv:UnspecifiedMatching Orphanet:399302 Primary avascular necrosis oboInOwl:hasDbXref UMLS:C5680038 semapv:UnspecifiedMatching Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 semapv:UnspecifiedMatching Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 semapv:UnspecifiedMatching +Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref UMLS:C0029429 semapv:UnspecifiedMatching +Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref UMLS:C0158441 semapv:UnspecifiedMatching +Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref icd11:FB82.2 semapv:UnspecifiedMatching Orphanet:399380 Osteonecrosis of genetic origin oboInOwl:hasDbXref UMLS:C5680035 semapv:UnspecifiedMatching Orphanet:399388 Avascular necrosis of genetic origin oboInOwl:hasDbXref UMLS:C5681169 semapv:UnspecifiedMatching Orphanet:399391 Osteochondrosis of genetic origin oboInOwl:hasDbXref UMLS:C5681168 semapv:UnspecifiedMatching @@ -21161,11 +24719,17 @@ Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77 Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref MESH:C535661 semapv:UnspecifiedMatching Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:602875 semapv:UnspecifiedMatching Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C1864356 semapv:UnspecifiedMatching +Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.0 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.0 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.1 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.1 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.2 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.2 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.3 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.3 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.4 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.4 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching @@ -21189,16 +24753,19 @@ Orphanet:400025 Female infertility due to an implantation defect of genetic orig Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:M07.3 semapv:UnspecifiedMatching +Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:M07.3 semapv:UnspecifiedMatching Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref ICD10:B71.0 semapv:UnspecifiedMatching Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref ICD10:B71.0 semapv:UnspecifiedMatching Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref MESH:D006925 semapv:UnspecifiedMatching Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref MedDRA:10020546 semapv:UnspecifiedMatching Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref UMLS:C0020413 semapv:UnspecifiedMatching +Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref icd11:1F74 semapv:UnspecifiedMatching Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref OMIM:615715 semapv:UnspecifiedMatching Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4751507 semapv:UnspecifiedMatching Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref OMIM:615673 semapv:UnspecifiedMatching Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref UMLS:C4749430 semapv:UnspecifiedMatching Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching @@ -21210,45 +24777,59 @@ Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXre Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref OMIM:615685 semapv:UnspecifiedMatching Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref UMLS:C3810294 semapv:UnspecifiedMatching +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref OMIM:615681 semapv:UnspecifiedMatching Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref UMLS:C4284588 semapv:UnspecifiedMatching +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref UMLS:C4750857 semapv:UnspecifiedMatching +Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref UMLS:C5190589 semapv:UnspecifiedMatching +Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref OMIM:615686 semapv:UnspecifiedMatching Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref UMLS:C3810295 semapv:UnspecifiedMatching +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref OMIM:615683 semapv:UnspecifiedMatching Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref UMLS:C3810289 semapv:UnspecifiedMatching +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref UMLS:C5190590 semapv:UnspecifiedMatching +Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref OMIM:615802 semapv:UnspecifiedMatching Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref UMLS:C4707829 semapv:UnspecifiedMatching +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching +Orphanet:401825 Autosomal recessive spastic paraplegia type 68 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching Orphanet:401825 Autosomal recessive spastic paraplegia type 68 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref UMLS:C5190577 semapv:UnspecifiedMatching +Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref OMIM:620323 semapv:UnspecifiedMatching Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref UMLS:C4749431 semapv:UnspecifiedMatching +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref UMLS:C5190578 semapv:UnspecifiedMatching +Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching +Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching +Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:401854 Lipoic acid biosynthesis defect oboInOwl:hasDbXref UMLS:C5680006 semapv:UnspecifiedMatching Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -21273,14 +24854,18 @@ Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:has Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref UMLS:C3280378 semapv:UnspecifiedMatching Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref UMLS:C5190586 semapv:UnspecifiedMatching Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C5680012 semapv:UnspecifiedMatching +Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref MESH:C537258 semapv:UnspecifiedMatching Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0334287 semapv:UnspecifiedMatching Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref icd11:2C12.02 semapv:UnspecifiedMatching +Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref icd11:XH9Q35 semapv:UnspecifiedMatching Orphanet:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750910 semapv:UnspecifiedMatching @@ -21288,6 +24873,7 @@ Orphanet:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93 Orphanet:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750911 semapv:UnspecifiedMatching Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching +Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref OMIM:615892 semapv:UnspecifiedMatching Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref UMLS:C4305376 semapv:UnspecifiedMatching Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching @@ -21306,6 +24892,7 @@ Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia wi Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome oboInOwl:hasDbXref UMLS:C4750913 semapv:UnspecifiedMatching Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref OMIM:610100 semapv:UnspecifiedMatching Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref UMLS:C5190585 semapv:UnspecifiedMatching Orphanet:401973 MEND syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -21322,11 +24909,14 @@ Orphanet:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref OMIM:613735 se Orphanet:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4707828 semapv:UnspecifiedMatching Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum oboInOwl:hasDbXref UMLS:C5681139 semapv:UnspecifiedMatching Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching +Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref OMIM:614817 semapv:UnspecifiedMatching Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref UMLS:C3553774 semapv:UnspecifiedMatching Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref UMLS:C5190822 semapv:UnspecifiedMatching +Orphanet:402007 Lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.1 semapv:UnspecifiedMatching Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref UMLS:C4518837 semapv:UnspecifiedMatching @@ -21347,6 +24937,7 @@ Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref ICD10:K52.8 semapv:Unspe Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref MedDRA:10057271 semapv:UnspecifiedMatching Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref UMLS:C0267448 semapv:UnspecifiedMatching +Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref icd11:DB33.2Y semapv:UnspecifiedMatching Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref MESH:C537758 semapv:UnspecifiedMatching @@ -21354,10 +24945,12 @@ Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDb Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1864498 semapv:UnspecifiedMatching Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching +Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref OMIM:109730 semapv:UnspecifiedMatching Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref OMIM:614823 semapv:UnspecifiedMatching Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref UMLS:C4749284 semapv:UnspecifiedMatching Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref UMLS:C5190799 semapv:UnspecifiedMatching Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -21369,10 +24962,13 @@ Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref ICD10:B17.0 semapv:Unspecifie Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref MESH:D003699 semapv:UnspecifiedMatching Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref MedDRA:10019762 semapv:UnspecifiedMatching Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref UMLS:C0011226 semapv:UnspecifiedMatching +Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref icd11:1E51.2 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref UMLS:C3838731 semapv:UnspecifiedMatching +Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref icd11:5A72.0 semapv:UnspecifiedMatching +Orphanet:40366 Acitretin/etretinate embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:40366 Acitretin/etretinate embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:40366 Acitretin/etretinate embryopathy oboInOwl:hasDbXref UMLS:C4510941 semapv:UnspecifiedMatching Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching @@ -21380,6 +24976,8 @@ Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref ICD10:E26.0 Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref MESH:C565312 semapv:UnspecifiedMatching Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref UMLS:C1854107 semapv:UnspecifiedMatching +Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref icd11:5A72.0 semapv:UnspecifiedMatching +Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref OMIM:615760 semapv:UnspecifiedMatching Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref UMLS:C5190583 semapv:UnspecifiedMatching @@ -21388,8 +24986,10 @@ Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref OMIM:615761 semapv:UnspecifiedMatching Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref UMLS:C5190582 semapv:UnspecifiedMatching Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref OMIM:615879 semapv:UnspecifiedMatching Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref UMLS:C4014545 semapv:UnspecifiedMatching +Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref MedDRA:10083856 semapv:UnspecifiedMatching @@ -21408,6 +25008,7 @@ Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbX Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref OMIM:613834 semapv:UnspecifiedMatching Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref UMLS:C3151201 semapv:UnspecifiedMatching Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching +Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:615774 semapv:UnspecifiedMatching Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:617712 semapv:UnspecifiedMatching Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:618353 semapv:UnspecifiedMatching @@ -21418,8 +25019,10 @@ Orphanet:404473 Severe intellectual disability-progressive spastic diplegia synd Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref OMIM:615075 semapv:UnspecifiedMatching Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref UMLS:C5190576 semapv:UnspecifiedMatching Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref OMIM:618272 semapv:UnspecifiedMatching Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref UMLS:C4748924 semapv:UnspecifiedMatching +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5681145 semapv:UnspecifiedMatching Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching @@ -21430,6 +25033,7 @@ Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disa Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref OMIM:615705 semapv:UnspecifiedMatching Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref UMLS:C3810326 semapv:UnspecifiedMatching Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching +Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref UMLS:C0221290 semapv:UnspecifiedMatching Orphanet:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching @@ -21447,6 +25051,7 @@ Orphanet:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching Orphanet:404546 DITRA oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching Orphanet:404546 DITRA oboInOwl:hasDbXref UMLS:C4759670 semapv:UnspecifiedMatching Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching +Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref OMIM:615688 semapv:UnspecifiedMatching Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref UMLS:C4749403 semapv:UnspecifiedMatching Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching @@ -21461,12 +25066,15 @@ Orphanet:404577 Genetic syndrome with limb malformations as a major feature oboI Orphanet:404580 Polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C4521004 semapv:UnspecifiedMatching Orphanet:404584 Rare genetic bone development disorder oboInOwl:hasDbXref UMLS:C5680015 semapv:UnspecifiedMatching Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref UMLS:C1809471 semapv:UnspecifiedMatching Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching Orphanet:406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching @@ -21478,26 +25086,31 @@ Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref MESH:C538138 Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MESH:C538377 semapv:UnspecifiedMatching Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MedDRA:10071311 semapv:UnspecifiedMatching Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref OMIM:144150 semapv:UnspecifiedMatching Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref UMLS:C0263420 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref icd11:ED5Y semapv:UnspecifiedMatching Orphanet:40923 Eales disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:40923 Eales disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:40923 Eales disease oboInOwl:hasDbXref MESH:C538011 semapv:UnspecifiedMatching Orphanet:40923 Eales disease oboInOwl:hasDbXref MedDRA:10057429 semapv:UnspecifiedMatching Orphanet:40923 Eales disease oboInOwl:hasDbXref UMLS:C0271073 semapv:UnspecifiedMatching +Orphanet:40923 Eales disease oboInOwl:hasDbXref icd11:9B77 semapv:UnspecifiedMatching Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MESH:C535729 semapv:UnspecifiedMatching Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref OMIM:127400 semapv:UnspecifiedMatching Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS:C0406775 semapv:UnspecifiedMatching +Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref icd11:EC23.Y semapv:UnspecifiedMatching Orphanet:411 Hyperlipoproteinemia type 1 oboInOwl:hasDbXref UMLS:C0023817 semapv:UnspecifiedMatching Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref OMIM:615803 semapv:UnspecifiedMatching Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref UMLS:C5190575 semapv:UnspecifiedMatching Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref ICD10:Q33.4 semapv:UnspecifiedMatching +Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref ICD10:Q33.4 semapv:UnspecifiedMatching Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref UMLS:C0340231 semapv:UnspecifiedMatching Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref icd11:LA74.Y semapv:UnspecifiedMatching Orphanet:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -21510,13 +25123,21 @@ Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref UMLS:C5681834 semapv:UnspecifiedMatching Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref ICD10:H34.8 semapv:UnspecifiedMatching +Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref ICD10:H34.8 semapv:UnspecifiedMatching Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref MedDRA:10007972 semapv:UnspecifiedMatching Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref UMLS:C0154841 semapv:UnspecifiedMatching +Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref icd11:9B74.1 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching @@ -21543,6 +25164,7 @@ Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref ICD10:E16.1 semap Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref MedDRA:10022472 semapv:UnspecifiedMatching Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref UMLS:C0854359 semapv:UnspecifiedMatching Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:605543 semapv:UnspecifiedMatching Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607060 semapv:UnspecifiedMatching @@ -21552,12 +25174,16 @@ Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM: Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:616361 semapv:UnspecifiedMatching Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref UMLS:C4274355 semapv:UnspecifiedMatching Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref MESH:C565655 semapv:UnspecifiedMatching Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref UMLS:C3537440 semapv:UnspecifiedMatching Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref icd11:5C60.1 semapv:UnspecifiedMatching Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref MESH:C562683 semapv:UnspecifiedMatching Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching @@ -21569,10 +25195,12 @@ Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref MESH:C535765 semapv:Unspeci Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref UMLS:C2931013 semapv:UnspecifiedMatching Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching +Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref UMLS:C4749332 semapv:UnspecifiedMatching Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref ICD10:A31.0 semapv:UnspecifiedMatching Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref ICD10:A31.0 semapv:UnspecifiedMatching Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref UMLS:C3472679 semapv:UnspecifiedMatching +Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref icd11:1B21.0 semapv:UnspecifiedMatching Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching @@ -21585,9 +25213,12 @@ Orphanet:411709 Renal agenesis oboInOwl:hasDbXref OMIM:615721 semapv:Unspecified Orphanet:411709 Renal agenesis oboInOwl:hasDbXref UMLS:C0542519 semapv:UnspecifiedMatching Orphanet:411709 Renal agenesis oboInOwl:hasDbXref icd11:LB30.00 semapv:UnspecifiedMatching Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching +Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref OMIM:615026 semapv:UnspecifiedMatching Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref UMLS:C4750953 semapv:UnspecifiedMatching Orphanet:411777 Generalized eruptive keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:411777 Generalized eruptive keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:411777 Generalized eruptive keratoacanthoma oboInOwl:hasDbXref icd11:2C31.1 semapv:UnspecifiedMatching Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching @@ -21596,6 +25227,7 @@ Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref icd11:LD27.0Y Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615859 semapv:UnspecifiedMatching Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4750952 semapv:UnspecifiedMatching Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.2 semapv:UnspecifiedMatching @@ -21604,6 +25236,7 @@ Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MESH:D006952 semapv:Unspe Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MedDRA:10060751 semapv:UnspecifiedMatching Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020479 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref icd11:5C80.2 semapv:UnspecifiedMatching Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref OMIM:601552 semapv:UnspecifiedMatching @@ -21632,26 +25265,36 @@ Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboI Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref OMIM:615028 semapv:UnspecifiedMatching Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref UMLS:C4750918 semapv:UnspecifiedMatching Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref ICD10:K00.8 semapv:UnspecifiedMatching +Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref ICD10:K00.8 semapv:UnspecifiedMatching Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref MESH:C565114 semapv:UnspecifiedMatching Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 semapv:UnspecifiedMatching Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref UMLS:C1852222 semapv:UnspecifiedMatching Orphanet:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref UMLS:C5190573 semapv:UnspecifiedMatching Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 oboInOwl:hasDbXref ICD10:E78.1 semapv:UnspecifiedMatching +Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 oboInOwl:hasDbXref ICD10:E78.1 semapv:UnspecifiedMatching +Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref UMLS:C0018425 semapv:UnspecifiedMatching +Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref icd11:5C50.9 semapv:UnspecifiedMatching Orphanet:414726 Genetic facial cleft oboInOwl:hasDbXref UMLS:C5680068 semapv:UnspecifiedMatching Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref MESH:C538380 semapv:UnspecifiedMatching Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref MedDRA:10084220 semapv:UnspecifiedMatching Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref OMIM:238970 semapv:UnspecifiedMatching Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref UMLS:C0268540 semapv:UnspecifiedMatching Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57 semapv:UnspecifiedMatching @@ -21664,6 +25307,7 @@ Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neurop Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.9 semapv:UnspecifiedMatching +Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.9 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref MESH:D006960 semapv:UnspecifiedMatching @@ -21673,15 +25317,18 @@ Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:260000 semapv:Unspeci Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020501 semapv:UnspecifiedMatching Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref MESH:C563375 semapv:UnspecifiedMatching Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:239200 semapv:UnspecifiedMatching Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:618188 semapv:UnspecifiedMatching Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C1832615 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref icd11:5A51.0 semapv:UnspecifiedMatching Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref MESH:C535440 semapv:UnspecifiedMatching Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref OMIM:210370 semapv:UnspecifiedMatching Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref UMLS:C1859486 semapv:UnspecifiedMatching +Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref icd11:9B61 semapv:UnspecifiedMatching Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref MESH:D000312 semapv:UnspecifiedMatching @@ -21695,6 +25342,8 @@ Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:613571 semap Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref UMLS:C0001627 semapv:UnspecifiedMatching Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching Orphanet:41842 NON RARE IN EUROPE: Fibromyalgia oboInOwl:hasDbXref ICD10:M79.7 semapv:UnspecifiedMatching +Orphanet:41842 NON RARE IN EUROPE: Fibromyalgia oboInOwl:hasDbXref ICD10:M79.7 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching @@ -21710,6 +25359,7 @@ Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref I Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref UMLS:C5190854 semapv:UnspecifiedMatching Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching @@ -21739,17 +25389,24 @@ Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10: Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref UMLS:C1333789 semapv:UnspecifiedMatching Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref MedDRA:10058513 semapv:UnspecifiedMatching Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref OMIM:239500 semapv:UnspecifiedMatching Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref UMLS:C0268529 semapv:UnspecifiedMatching +Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref icd11:5C50.8 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536038 semapv:UnspecifiedMatching Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10072654 semapv:UnspecifiedMatching Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 semapv:UnspecifiedMatching Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220710 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref OMIM:614753 semapv:UnspecifiedMatching Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref UMLS:C3553660 semapv:UnspecifiedMatching +Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C3873302 semapv:UnspecifiedMatching Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref icd11:CB04.31 semapv:UnspecifiedMatching @@ -21758,19 +25415,23 @@ Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref ICD10: Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref MESH:D000084322 semapv:UnspecifiedMatching Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref UMLS:C4708600 semapv:UnspecifiedMatching Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref UMLS:C3888925 semapv:UnspecifiedMatching Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref OMIM:615034 semapv:UnspecifiedMatching Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref UMLS:C3554374 semapv:UnspecifiedMatching Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref OMIM:614860 semapv:UnspecifiedMatching Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref UMLS:C3538999 semapv:UnspecifiedMatching Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref UMLS:C4324662 semapv:UnspecifiedMatching Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref MESH:C567516 semapv:UnspecifiedMatching Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref OMIM:611816 semapv:UnspecifiedMatching Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2678486 semapv:UnspecifiedMatching @@ -21797,6 +25458,8 @@ Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:Unspecified Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref MESH:C536285 semapv:UnspecifiedMatching Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref OMIM:242600 semapv:UnspecifiedMatching Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref UMLS:C0268654 semapv:UnspecifiedMatching +Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching +Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:616099 semapv:UnspecifiedMatching Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4706686 semapv:UnspecifiedMatching @@ -21812,16 +25475,20 @@ Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDb Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref OMIM:615917 semapv:UnspecifiedMatching Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref UMLS:C4014660 semapv:UnspecifiedMatching +Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref OMIM:615918 semapv:UnspecifiedMatching Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref UMLS:C4706316 semapv:UnspecifiedMatching +Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching +Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref MESH:C567453 semapv:UnspecifiedMatching Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref OMIM:611943 semapv:UnspecifiedMatching Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref UMLS:C2677792 semapv:UnspecifiedMatching Orphanet:420755 Rare genetic odontal or periodontal disorder oboInOwl:hasDbXref UMLS:C5681204 semapv:UnspecifiedMatching Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref UMLS:C4707562 semapv:UnspecifiedMatching Orphanet:420794 Cono-spondylar dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:420794 Cono-spondylar dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching @@ -21834,11 +25501,13 @@ Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDb Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615343 semapv:UnspecifiedMatching Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C5679820 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref OMIM:144700 semapv:UnspecifiedMatching Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS:C1333985 semapv:UnspecifiedMatching Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MESH:D008305 semapv:UnspecifiedMatching Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MedDRA:10020844 semapv:UnspecifiedMatching Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:145600 semapv:UnspecifiedMatching @@ -21853,10 +25522,13 @@ Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref ICD10:G11.8 se Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref OMIM:616053 semapv:UnspecifiedMatching Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref UMLS:C4518336 semapv:UnspecifiedMatching +Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref OMIM:615957 semapv:UnspecifiedMatching Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref UMLS:C4518337 semapv:UnspecifiedMatching +Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching +Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4749647 semapv:UnspecifiedMatching Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching @@ -21865,12 +25537,15 @@ Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 d Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref UMLS:C5190861 semapv:UnspecifiedMatching Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:616029 semapv:UnspecifiedMatching Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref UMLS:C4014987 semapv:UnspecifiedMatching Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref UMLS:C1854896 semapv:UnspecifiedMatching Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching @@ -21881,6 +25556,7 @@ Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrop Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum oboInOwl:hasDbXref UMLS:C5681206 semapv:UnspecifiedMatching Orphanet:423662 Rare autonomic nervous system disorder oboInOwl:hasDbXref UMLS:C5681205 semapv:UnspecifiedMatching Orphanet:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C5680070 semapv:UnspecifiedMatching @@ -21914,6 +25590,7 @@ Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref UMLS:C1 Orphanet:423793 Rare tumor of small intestine oboInOwl:hasDbXref UMLS:C5680076 semapv:UnspecifiedMatching Orphanet:423798 Mesenchymal tumor of small intestine oboInOwl:hasDbXref UMLS:C5680077 semapv:UnspecifiedMatching Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref UMLS:C4706585 semapv:UnspecifiedMatching Orphanet:423957 Rare carcinoma of small intestine oboInOwl:hasDbXref UMLS:C5680078 semapv:UnspecifiedMatching Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching @@ -21925,6 +25602,7 @@ Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXre Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref UMLS:C4707899 semapv:UnspecifiedMatching Orphanet:423982 Epithelial tumor of the appendix oboInOwl:hasDbXref UMLS:C5680073 semapv:UnspecifiedMatching Orphanet:423991 Rare epithelial tumor of colon oboInOwl:hasDbXref UMLS:C5681208 semapv:UnspecifiedMatching @@ -21941,13 +25619,18 @@ Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C1 Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.9 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.9 semapv:UnspecifiedMatching Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref UMLS:C1333100 semapv:UnspecifiedMatching Orphanet:423998 Rare epithelial tumor of rectum oboInOwl:hasDbXref UMLS:C5680074 semapv:UnspecifiedMatching Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref OMIM:609152 semapv:UnspecifiedMatching Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref UMLS:C4274306 semapv:UnspecifiedMatching +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref icd11:5A02.Y semapv:UnspecifiedMatching Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref UMLS:C1335690 semapv:UnspecifiedMatching @@ -21955,14 +25638,21 @@ Orphanet:424010 Epithelial tumor of anal canal oboInOwl:hasDbXref UMLS:C5681209 Orphanet:424013 Carcinoma of the anal canal oboInOwl:hasDbXref MESH:C563020 semapv:UnspecifiedMatching Orphanet:424013 Carcinoma of the anal canal oboInOwl:hasDbXref UMLS:C0563211 semapv:UnspecifiedMatching Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching +Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref UMLS:C1332259 semapv:UnspecifiedMatching +Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref icd11:2C00.0 semapv:UnspecifiedMatching +Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref UMLS:C4301960 semapv:UnspecifiedMatching +Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref icd11:2C00.3 semapv:UnspecifiedMatching +Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref OMIM:616230 semapv:UnspecifiedMatching Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref UMLS:C5190825 semapv:UnspecifiedMatching Orphanet:424033 Rare epithelial tumor of pancreas oboInOwl:hasDbXref UMLS:C5680072 semapv:UnspecifiedMatching Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching @@ -21972,6 +25662,8 @@ Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25 Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref UMLS:C2675993 semapv:UnspecifiedMatching Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching @@ -21981,8 +25673,11 @@ Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref MedDRA:10073363 semapv:UnspecifiedMatching Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref UMLS:C0279661 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching @@ -21993,8 +25688,11 @@ Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref U Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335304 semapv:UnspecifiedMatching +Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching @@ -22002,8 +25700,11 @@ Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref I Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1336029 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching @@ -22011,8 +25712,11 @@ Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335315 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching @@ -22021,32 +25725,47 @@ Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of p Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref UMLS:C2007059 semapv:UnspecifiedMatching Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref UMLS:C4707229 semapv:UnspecifiedMatching Orphanet:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref UMLS:C4706390 semapv:UnspecifiedMatching Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:617072 semapv:UnspecifiedMatching Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C4511482 semapv:UnspecifiedMatching Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 oboInOwl:hasDbXref UMLS:C5681207 semapv:UnspecifiedMatching Orphanet:424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5680080 semapv:UnspecifiedMatching Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5192429 semapv:UnspecifiedMatching Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4749401 semapv:UnspecifiedMatching Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4749400 semapv:UnspecifiedMatching Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0334286 semapv:UnspecifiedMatching +Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref icd11:2C12.1Y semapv:UnspecifiedMatching Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4707555 semapv:UnspecifiedMatching Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching @@ -22059,8 +25778,10 @@ Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MedDRA:10065133 se Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:604091 semapv:UnspecifiedMatching Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:618463 semapv:UnspecifiedMatching Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref UMLS:C0342898 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref icd11:5C81.0 semapv:UnspecifiedMatching Orphanet:425003 Inherited digestive cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5681210 semapv:UnspecifiedMatching Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref MedDRA:10088833 semapv:UnspecifiedMatching Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref UMLS:C4014722 semapv:UnspecifiedMatching @@ -22068,19 +25789,23 @@ Orphanet:425368 Rare epithelial tumor of small intestine oboInOwl:hasDbXref UMLS Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref MedDRA:10070594 semapv:UnspecifiedMatching Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref UMLS:C4082167 semapv:UnspecifiedMatching Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref icd11:DA01.10 semapv:UnspecifiedMatching Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref MESH:C536919 semapv:UnspecifiedMatching Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref OMIM:103500 semapv:UnspecifiedMatching Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref UMLS:C0391816 semapv:UnspecifiedMatching +Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:203400 semapv:UnspecifiedMatching Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:606984 semapv:UnspecifiedMatching Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:610600 semapv:UnspecifiedMatching Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref UMLS:C4275180 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref icd11:5A73 semapv:UnspecifiedMatching Orphanet:42738 Severe congenital neutropenia oboInOwl:hasDbXref MedDRA:10052210 semapv:UnspecifiedMatching Orphanet:42738 Severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1853118 semapv:UnspecifiedMatching Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching @@ -22097,16 +25822,20 @@ Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIM:615361 sema Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref UMLS:C4048195 semapv:UnspecifiedMatching Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref icd11:5A50.0Y semapv:UnspecifiedMatching Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref MESH:C562937 semapv:UnspecifiedMatching Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref MedDRA:10020967 semapv:UnspecifiedMatching Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref UMLS:C0410529 semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref icd11:LD24.01 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MedDRA:10051260 semapv:UnspecifiedMatching Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:302700 semapv:UnspecifiedMatching Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0162309 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching Orphanet:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref MESH:C537365 semapv:UnspecifiedMatching Orphanet:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref OMIM:308200 semapv:UnspecifiedMatching Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -22114,26 +25843,32 @@ Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual d Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref UMLS:C4749694 semapv:UnspecifiedMatching Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref UMLS:C4707864 semapv:UnspecifiedMatching Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref MESH:C564972 semapv:UnspecifiedMatching Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref OMIM:255125 semapv:UnspecifiedMatching Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref UMLS:C1850718 semapv:UnspecifiedMatching Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref icd11:5C53.1 semapv:UnspecifiedMatching Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection oboInOwl:hasDbXref UMLS:C5681211 semapv:UnspecifiedMatching Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref ICD10:T43.1 semapv:UnspecifiedMatching +Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref ICD10:T43.1 semapv:UnspecifiedMatching Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref MESH:D020230 semapv:UnspecifiedMatching Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref MedDRA:10040108 semapv:UnspecifiedMatching Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref UMLS:C0699828 semapv:UnspecifiedMatching +Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref icd11:8D85 semapv:UnspecifiedMatching Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616636 semapv:UnspecifiedMatching Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616669 semapv:UnspecifiedMatching Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref UMLS:C5190882 semapv:UnspecifiedMatching Orphanet:43117 Acute tricyclic antidepressant poisoning oboInOwl:hasDbXref ICD10:T43.0 semapv:UnspecifiedMatching +Orphanet:43117 Acute tricyclic antidepressant poisoning oboInOwl:hasDbXref ICD10:T43.0 semapv:UnspecifiedMatching Orphanet:43117 Acute tricyclic antidepressant poisoning oboInOwl:hasDbXref UMLS:C5681319 semapv:UnspecifiedMatching Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching +Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect oboInOwl:hasDbXref UMLS:C5681320 semapv:UnspecifiedMatching Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching @@ -22142,6 +25877,7 @@ Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS: Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies oboInOwl:hasDbXref UMLS:C5680081 semapv:UnspecifiedMatching Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref UMLS:C5399872 semapv:UnspecifiedMatching Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref icd11:8C70.5 semapv:UnspecifiedMatching @@ -22149,13 +25885,17 @@ Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXre Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref OMIM:615658 semapv:UnspecifiedMatching Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref UMLS:C3714897 semapv:UnspecifiedMatching +Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching +Orphanet:431341 Patent urachus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching Orphanet:431341 Patent urachus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching Orphanet:431341 Patent urachus oboInOwl:hasDbXref UMLS:C0266357 semapv:UnspecifiedMatching Orphanet:431341 Patent urachus oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching Orphanet:431344 Urachal sinus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:431344 Urachal sinus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching Orphanet:431344 Urachal sinus oboInOwl:hasDbXref UMLS:C3472657 semapv:UnspecifiedMatching Orphanet:431344 Urachal sinus oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref UMLS:C0431743 semapv:UnspecifiedMatching Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis oboInOwl:hasDbXref UMLS:C3698354 semapv:UnspecifiedMatching @@ -22165,6 +25905,7 @@ Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR defic Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref OMIM:616034 semapv:UnspecifiedMatching Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref UMLS:C1857252 semapv:UnspecifiedMatching Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:146110 semapv:UnspecifiedMatching Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching @@ -22185,14 +25926,18 @@ Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXr Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615270 semapv:UnspecifiedMatching Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:619755 semapv:UnspecifiedMatching Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5680088 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD10:G73.1 semapv:UnspecifiedMatching Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD10:G73.1 semapv:UnspecifiedMatching Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MESH:D015624 semapv:UnspecifiedMatching Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MedDRA:10067685 semapv:UnspecifiedMatching Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref UMLS:C0022972 semapv:UnspecifiedMatching +Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref icd11:8C62 semapv:UnspecifiedMatching Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref OMIM:615948 semapv:UnspecifiedMatching Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref UMLS:C4706604 semapv:UnspecifiedMatching +Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:434786 Rare genetic autonomic nervous system disorder oboInOwl:hasDbXref UMLS:C5681212 semapv:UnspecifiedMatching Orphanet:434809 Syndrome with woolly hair oboInOwl:hasDbXref UMLS:C0345427 semapv:UnspecifiedMatching Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching @@ -22202,15 +25947,21 @@ Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref MedDRA:10081225 se Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref OMIM:137575 semapv:UnspecifiedMatching Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref UMLS:C3495361 semapv:UnspecifiedMatching Orphanet:435365 Fetal lower urinary tract obstruction oboInOwl:hasDbXref UMLS:C4305545 semapv:UnspecifiedMatching +Orphanet:435365 Fetal lower urinary tract obstruction oboInOwl:hasDbXref icd11:LB31.2 semapv:UnspecifiedMatching +Orphanet:435372 Anterior urethral valve oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching Orphanet:435372 Anterior urethral valve oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching Orphanet:435372 Anterior urethral valve oboInOwl:hasDbXref UMLS:C0431755 semapv:UnspecifiedMatching +Orphanet:435372 Anterior urethral valve oboInOwl:hasDbXref icd11:LB31.2 semapv:UnspecifiedMatching +Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref OMIM:616687 semapv:UnspecifiedMatching Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref UMLS:C5569026 semapv:UnspecifiedMatching Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref OMIM:616187 semapv:UnspecifiedMatching Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref UMLS:C4015420 semapv:UnspecifiedMatching +Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:435554 Genetic precocious puberty oboInOwl:hasDbXref UMLS:C5681172 semapv:UnspecifiedMatching Orphanet:435564 Genetic precocious puberty in female oboInOwl:hasDbXref UMLS:C5681171 semapv:UnspecifiedMatching Orphanet:435603 Genetic otorhinolaryngological malformation oboInOwl:hasDbXref UMLS:C5681175 semapv:UnspecifiedMatching @@ -22218,27 +25969,34 @@ Orphanet:435606 Genetic nose and cavum anomaly oboInOwl:hasDbXref UMLS:C5681174 Orphanet:435609 Genetic larynx anomaly oboInOwl:hasDbXref UMLS:C5681173 semapv:UnspecifiedMatching Orphanet:435612 Genetic tracheal anomaly oboInOwl:hasDbXref UMLS:C5681176 semapv:UnspecifiedMatching Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref OMIM:614098 semapv:UnspecifiedMatching Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref UMLS:C3279800 semapv:UnspecifiedMatching Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5437630 semapv:UnspecifiedMatching +Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.31 semapv:UnspecifiedMatching +Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615238 semapv:UnspecifiedMatching Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C3808940 semapv:UnspecifiedMatching Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615980 semapv:UnspecifiedMatching Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C4014869 semapv:UnspecifiedMatching Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:435743 Congenital urachal anomaly oboInOwl:hasDbXref UMLS:C1739100 semapv:UnspecifiedMatching Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref UMLS:C5681177 semapv:UnspecifiedMatching Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref UMLS:C5569028 semapv:UnspecifiedMatching Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref OMIM:614498 semapv:UnspecifiedMatching Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref OMIM:618056 semapv:UnspecifiedMatching Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref UMLS:C3281029 semapv:UnspecifiedMatching @@ -22256,16 +26014,20 @@ Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchid Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:300998 semapv:UnspecifiedMatching Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C5681178 semapv:UnspecifiedMatching Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:616200 semapv:UnspecifiedMatching Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref UMLS:C4015461 semapv:UnspecifiedMatching Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref MedDRA:10086078 semapv:UnspecifiedMatching Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref OMIM:616201 semapv:UnspecifiedMatching Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref UMLS:C4015474 semapv:UnspecifiedMatching Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:616039 semapv:UnspecifiedMatching Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref UMLS:C5569027 semapv:UnspecifiedMatching Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref MESH:D007014 semapv:UnspecifiedMatching Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref MedDRA:10049933 semapv:UnspecifiedMatching Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching @@ -22281,6 +26043,7 @@ Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face- Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref UMLS:C5681179 semapv:UnspecifiedMatching Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref UMLS:C5681180 semapv:UnspecifiedMatching Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -22293,6 +26056,7 @@ Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref OMIM:616100 semapv:UnspecifiedMatching Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref UMLS:C4015214 semapv:UnspecifiedMatching Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616050 semapv:UnspecifiedMatching Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.3 semapv:UnspecifiedMatching Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.3 semapv:UnspecifiedMatching @@ -22304,10 +26068,12 @@ Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineu Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:616007 semapv:UnspecifiedMatching Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4014942 semapv:UnspecifiedMatching Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref OMIM:616541 semapv:UnspecifiedMatching Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref OMIM:617253 semapv:UnspecifiedMatching Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref UMLS:C5681181 semapv:UnspecifiedMatching Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching +Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref OMIM:616117 semapv:UnspecifiedMatching Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref UMLS:C5681182 semapv:UnspecifiedMatching Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -22315,16 +26081,20 @@ Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectua Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616108 semapv:UnspecifiedMatching Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4015242 semapv:UnspecifiedMatching Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref UMLS:C5680044 semapv:UnspecifiedMatching Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref OMIM:619061 semapv:UnspecifiedMatching Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5681183 semapv:UnspecifiedMatching Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref UMLS:C5680045 semapv:UnspecifiedMatching Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref MESH:D063730 semapv:UnspecifiedMatching Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref MedDRA:10060873 semapv:UnspecifiedMatching Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C1704375 semapv:UnspecifiedMatching +Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref icd11:5C63.22 semapv:UnspecifiedMatching Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref OMIM:615707 semapv:UnspecifiedMatching @@ -22335,9 +26105,11 @@ Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency obo Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref OMIM:616095 semapv:UnspecifiedMatching Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref UMLS:C4015186 semapv:UnspecifiedMatching Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616140 semapv:UnspecifiedMatching Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C4015323 semapv:UnspecifiedMatching Orphanet:438117 Steel syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:438117 Steel syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:438117 Steel syndrome oboInOwl:hasDbXref OMIM:615155 semapv:UnspecifiedMatching Orphanet:438117 Steel syndrome oboInOwl:hasDbXref UMLS:C3554594 semapv:UnspecifiedMatching Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching @@ -22345,9 +26117,11 @@ Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity synd Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref OMIM:615919 semapv:UnspecifiedMatching Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref UMLS:C4014676 semapv:UnspecifiedMatching Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref OMIM:615952 semapv:UnspecifiedMatching Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref UMLS:C4014795 semapv:UnspecifiedMatching Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref OMIM:616154 semapv:UnspecifiedMatching Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref UMLS:C4015344 semapv:UnspecifiedMatching Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching @@ -22355,30 +26129,39 @@ Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbX Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref OMIM:616176 semapv:UnspecifiedMatching Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref UMLS:C5569048 semapv:UnspecifiedMatching Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref MedDRA:10085882 semapv:UnspecifiedMatching Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref UMLS:C4708498 semapv:UnspecifiedMatching Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref MESH:C566113 semapv:UnspecifiedMatching Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref UMLS:C1861457 semapv:UnspecifiedMatching +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref icd11:8D82 semapv:UnspecifiedMatching Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref ICD10:E16.3 semapv:UnspecifiedMatching Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref ICD10:E16.3 semapv:UnspecifiedMatching Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref OMIM:619290 semapv:UnspecifiedMatching Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref UMLS:C4763635 semapv:UnspecifiedMatching Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B03 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B03 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B04 semapv:UnspecifiedMatching Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B04 semapv:UnspecifiedMatching Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B08.0 semapv:UnspecifiedMatching Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B08.0 semapv:UnspecifiedMatching Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref UMLS:C5681185 semapv:UnspecifiedMatching Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching +Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref MESH:C535682 semapv:UnspecifiedMatching Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref OMIM:277200 semapv:UnspecifiedMatching Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref UMLS:C1848587 semapv:UnspecifiedMatching Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedMatching Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:P02.2 semapv:UnspecifiedMatching Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:P02.2 semapv:UnspecifiedMatching Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref MESH:D010927 semapv:UnspecifiedMatching Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref MedDRA:10035138 semapv:UnspecifiedMatching @@ -22388,14 +26171,18 @@ Orphanet:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref ICD10:I63. Orphanet:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref ICD10:I63.5 semapv:UnspecifiedMatching Orphanet:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref UMLS:C5680049 semapv:UnspecifiedMatching Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref ICD10:L53.8 semapv:UnspecifiedMatching +Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref ICD10:L53.8 semapv:UnspecifiedMatching Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref MedDRA:10084061 semapv:UnspecifiedMatching Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref UMLS:C4546437 semapv:UnspecifiedMatching Orphanet:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref ICD10:P14.3 semapv:UnspecifiedMatching +Orphanet:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref ICD10:P14.3 semapv:UnspecifiedMatching Orphanet:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref UMLS:C5680048 semapv:UnspecifiedMatching Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref OMIM:614399 semapv:UnspecifiedMatching Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref UMLS:C3280679 semapv:UnspecifiedMatching Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref OMIM:613720 semapv:UnspecifiedMatching Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref UMLS:C4755256 semapv:UnspecifiedMatching Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching @@ -22405,28 +26192,38 @@ Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:Unspec Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref UMLS:C5568805 semapv:UnspecifiedMatching +Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching Orphanet:439246 ABeta2M amyloidosis oboInOwl:hasDbXref UMLS:C5680053 semapv:UnspecifiedMatching +Orphanet:439246 ABeta2M amyloidosis oboInOwl:hasDbXref icd11:5D00.3 semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref UMLS:C5568806 semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0343190 semapv:UnspecifiedMatching +Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref icd11:EF40.Z semapv:UnspecifiedMatching Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref UMLS:C5680052 semapv:UnspecifiedMatching +Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref icd11:4A44.4 semapv:UnspecifiedMatching Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching +Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref UMLS:C5680050 semapv:UnspecifiedMatching +Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref icd11:4A44.4 semapv:UnspecifiedMatching Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref UMLS:C5680051 semapv:UnspecifiedMatching +Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref icd11:4A44.4 semapv:UnspecifiedMatching Orphanet:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref icd11:4A44.4 semapv:UnspecifiedMatching Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref OMIM:615668 semapv:UnspecifiedMatching @@ -22438,11 +26235,13 @@ Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen sto Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref UMLS:C0264342 semapv:UnspecifiedMatching +Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref icd11:CA42.Z semapv:UnspecifiedMatching Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref OMIM:616258 semapv:UnspecifiedMatching Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref UMLS:C4015701 semapv:UnspecifiedMatching Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching @@ -22455,12 +26254,16 @@ Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614885 semapv: Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0282525 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref UMLS:C5680054 semapv:UnspecifiedMatching +Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref icd11:9C81.0Y semapv:UnspecifiedMatching Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref UMLS:C5680055 semapv:UnspecifiedMatching +Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref icd11:9C81.2 semapv:UnspecifiedMatching +Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref UMLS:C5680056 semapv:UnspecifiedMatching Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 semapv:UnspecifiedMatching @@ -22477,6 +26280,7 @@ Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDb Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref UMLS:C1970456 semapv:UnspecifiedMatching Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref OMIM:615486 semapv:UnspecifiedMatching Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref UMLS:C4225400 semapv:UnspecifiedMatching Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching @@ -22494,6 +26298,7 @@ Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.5 Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref UMLS:C3896578 semapv:UnspecifiedMatching Orphanet:440701 Disorders of pentose/polyol metabolism oboInOwl:hasDbXref UMLS:C5681188 semapv:UnspecifiedMatching Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching @@ -22509,23 +26314,29 @@ Orphanet:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXr Orphanet:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching Orphanet:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXref UMLS:C5681187 semapv:UnspecifiedMatching Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching +Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium oboInOwl:hasDbXref UMLS:C1862062 semapv:UnspecifiedMatching Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref OMIM:615604 semapv:UnspecifiedMatching Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref UMLS:C3810090 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref ICD10:Q44.0 semapv:UnspecifiedMatching +Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref ICD10:Q44.0 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref MESH:C562564 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref UMLS:C0266251 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref icd11:LB20.10 semapv:UnspecifiedMatching Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref MESH:D054970 semapv:UnspecifiedMatching Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref UMLS:C0393911 semapv:UnspecifiedMatching +Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref icd11:8D84 semapv:UnspecifiedMatching Orphanet:441434 Syndromic hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C5681189 semapv:UnspecifiedMatching Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref UMLS:C5681190 semapv:UnspecifiedMatching Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref ICD10:H26.8 semapv:UnspecifiedMatching +Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref ICD10:H26.8 semapv:UnspecifiedMatching Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching @@ -22537,6 +26348,8 @@ Orphanet:442 Congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.0 semapv:Un Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref UMLS:C5204115 semapv:UnspecifiedMatching +Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref icd11:5D00.Y semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:301058 semapv:UnspecifiedMatching Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:614558 semapv:UnspecifiedMatching @@ -22604,17 +26417,23 @@ Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0268323 semapv:UnspecifiedMatching Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref icd11:5C58.10 semapv:UnspecifiedMatching Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching +Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref UMLS:C2349425 semapv:UnspecifiedMatching +Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref icd11:8A82 semapv:UnspecifiedMatching +Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref OMIM:616155 semapv:UnspecifiedMatching Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref UMLS:C4015349 semapv:UnspecifiedMatching Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref ICD10:H35.7 semapv:UnspecifiedMatching +Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref ICD10:H35.7 semapv:UnspecifiedMatching Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref MESH:D056833 semapv:UnspecifiedMatching Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref MedDRA:10086644 semapv:UnspecifiedMatching Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref UMLS:C0730328 semapv:UnspecifiedMatching Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref icd11:9B75.2 semapv:UnspecifiedMatching Orphanet:443084 Baroreflex failure oboInOwl:hasDbXref ICD10:G90.4 semapv:UnspecifiedMatching +Orphanet:443084 Baroreflex failure oboInOwl:hasDbXref ICD10:G90.4 semapv:UnspecifiedMatching Orphanet:443084 Baroreflex failure oboInOwl:hasDbXref UMLS:C1959798 semapv:UnspecifiedMatching +Orphanet:443084 Baroreflex failure oboInOwl:hasDbXref icd11:8D89.3 semapv:UnspecifiedMatching Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref OMIM:614279 semapv:UnspecifiedMatching @@ -22636,13 +26455,18 @@ Orphanet:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref ICD10:Q04.8 Orphanet:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref OMIM:605013 semapv:UnspecifiedMatching Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref MedDRA:10078295 semapv:UnspecifiedMatching Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref UMLS:C1707291 semapv:UnspecifiedMatching Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref ICD10:F53.1 semapv:UnspecifiedMatching +Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref ICD10:F53.1 semapv:UnspecifiedMatching Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref UMLS:C0520678 semapv:UnspecifiedMatching Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref icd11:6E21 semapv:UnspecifiedMatching Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref ICD10:G96.0 semapv:UnspecifiedMatching +Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref ICD10:G96.0 semapv:UnspecifiedMatching Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref UMLS:C0751731 semapv:UnspecifiedMatching +Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref icd11:8D61.0 semapv:UnspecifiedMatching +Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref UMLS:C5680058 semapv:UnspecifiedMatching @@ -22653,11 +26477,17 @@ Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref MESH:C Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C2677889 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.1 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.1 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.2 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.2 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.3 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.3 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref MESH:D010284 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref UMLS:C0030528 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref icd11:1A08 semapv:UnspecifiedMatching +Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref ICD10:I95.1 semapv:UnspecifiedMatching Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref ICD10:I95.1 semapv:UnspecifiedMatching Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref OMIM:604715 semapv:UnspecifiedMatching Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref UMLS:C5680060 semapv:UnspecifiedMatching @@ -22665,6 +26495,7 @@ Orphanet:443291 HIV-associated cancer oboInOwl:hasDbXref ICD10:B21.8 semapv:Unsp Orphanet:443291 HIV-associated cancer oboInOwl:hasDbXref ICD10:B21.8 semapv:UnspecifiedMatching Orphanet:443291 HIV-associated cancer oboInOwl:hasDbXref UMLS:C5680059 semapv:UnspecifiedMatching Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref MedDRA:10079359 semapv:UnspecifiedMatching Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -22673,6 +26504,7 @@ Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatchi Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref UMLS:C4014371 semapv:UnspecifiedMatching Orphanet:443909 Hereditary nonpolyposis colon cancer oboInOwl:hasDbXref UMLS:C1333990 semapv:UnspecifiedMatching Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C5569053 semapv:UnspecifiedMatching Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching @@ -22681,6 +26513,7 @@ Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref MESH:C Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref OMIM:219730 semapv:UnspecifiedMatching Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref UMLS:C1857423 semapv:UnspecifiedMatching Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref OMIM:616367 semapv:UnspecifiedMatching Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref UMLS:C4225349 semapv:UnspecifiedMatching Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching @@ -22698,6 +26531,7 @@ Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDb Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref OMIM:616198 semapv:UnspecifiedMatching Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref UMLS:C5567743 semapv:UnspecifiedMatching Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching +Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref OMIM:616185 semapv:UnspecifiedMatching Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref UMLS:C4015409 semapv:UnspecifiedMatching Orphanet:444051 20q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -22724,18 +26558,23 @@ Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref UMLS:C5568981 semapv:UnspecifiedMatching +Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref MESH:D028226 semapv:UnspecifiedMatching Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref MedDRA:10016202 semapv:UnspecifiedMatching Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref UMLS:C0740340 semapv:UnspecifiedMatching +Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref icd11:5D00.2 semapv:UnspecifiedMatching +Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref OMIM:616295 semapv:UnspecifiedMatching Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref UMLS:C4225381 semapv:UnspecifiedMatching Orphanet:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref UMLS:C5680064 semapv:UnspecifiedMatching Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref OMIM:616239 semapv:UnspecifiedMatching Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref UMLS:C4015643 semapv:UnspecifiedMatching +Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619220 semapv:UnspecifiedMatching @@ -22752,6 +26591,7 @@ Orphanet:444916 Pseudohypoaldosteronism oboInOwl:hasDbXref MedDRA:10080593 semap Orphanet:444916 Pseudohypoaldosteronism oboInOwl:hasDbXref UMLS:C0033805 semapv:UnspecifiedMatching Orphanet:444941 Caudal regression-sirenomelia spectrum oboInOwl:hasDbXref UMLS:C5681198 semapv:UnspecifiedMatching Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref OMIM:614700 semapv:UnspecifiedMatching Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref UMLS:C3553512 semapv:UnspecifiedMatching Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching @@ -22766,10 +26606,13 @@ Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodeg Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref OMIM:616192 semapv:UnspecifiedMatching Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref UMLS:C4015436 semapv:UnspecifiedMatching Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref OMIM:616094 semapv:UnspecifiedMatching Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref UMLS:C4015184 semapv:UnspecifiedMatching +Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:445197 Secondary vasculitis oboInOwl:hasDbXref UMLS:C5681200 semapv:UnspecifiedMatching Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref MESH:C536394 semapv:UnspecifiedMatching Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref MedDRA:10078355 semapv:UnspecifiedMatching Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching @@ -22784,11 +26627,15 @@ Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0024790 semapv:UnspecifiedMatching Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref icd11:3A21.0 semapv:UnspecifiedMatching Orphanet:447731 NIK deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:447731 NIK deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:447731 NIK deficiency oboInOwl:hasDbXref OMIM:620449 semapv:UnspecifiedMatching Orphanet:447731 NIK deficiency oboInOwl:hasDbXref UMLS:C5680065 semapv:UnspecifiedMatching +Orphanet:447731 NIK deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref OMIM:616433 semapv:UnspecifiedMatching Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref UMLS:C4225328 semapv:UnspecifiedMatching +Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref UMLS:C5681199 semapv:UnspecifiedMatching @@ -22796,13 +26643,17 @@ Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref OMIM:601162 semapv:UnspecifiedMatching Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref UMLS:C5568978 semapv:UnspecifiedMatching +Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref UMLS:C5568979 semapv:UnspecifiedMatching +Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref OMIM:616586 semapv:UnspecifiedMatching Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref UMLS:C5568980 semapv:UnspecifiedMatching +Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching +Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref UMLS:C4302109 semapv:UnspecifiedMatching Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching @@ -22810,17 +26661,21 @@ Orphanet:447771 Sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:Un Orphanet:447771 Sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10008609 semapv:UnspecifiedMatching Orphanet:447771 Sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0008313 semapv:UnspecifiedMatching Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0400978 semapv:UnspecifiedMatching Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref icd11:DC13 semapv:UnspecifiedMatching Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref UMLS:C1708604 semapv:UnspecifiedMatching Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref icd11:2E83.1 semapv:UnspecifiedMatching +Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref icd11:2E83.Z semapv:UnspecifiedMatching +Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 semapv:UnspecifiedMatching Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref UMLS:C3553607 semapv:UnspecifiedMatching Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref icd11:5C53.0Y semapv:UnspecifiedMatching Orphanet:447788 Cerebral visual impairment oboInOwl:hasDbXref ICD10:H47.6 semapv:UnspecifiedMatching +Orphanet:447788 Cerebral visual impairment oboInOwl:hasDbXref ICD10:H47.6 semapv:UnspecifiedMatching Orphanet:447788 Cerebral visual impairment oboInOwl:hasDbXref UMLS:C3810365 semapv:UnspecifiedMatching Orphanet:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -22835,32 +26690,39 @@ Orphanet:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref ICD10:G72.8 Orphanet:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching Orphanet:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref UMLS:C5680066 semapv:UnspecifiedMatching Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref UMLS:C5681201 semapv:UnspecifiedMatching Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref UMLS:C5680067 semapv:UnspecifiedMatching Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref OMIM:616430 semapv:UnspecifiedMatching Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref UMLS:C5567742 semapv:UnspecifiedMatching +Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref ICD10:D04.8 semapv:UnspecifiedMatching Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref ICD10:D04.8 semapv:UnspecifiedMatching Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref OMIM:618373 semapv:UnspecifiedMatching Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref UMLS:C5681108 semapv:UnspecifiedMatching Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref OMIM:616491 semapv:UnspecifiedMatching Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref UMLS:C5569050 semapv:UnspecifiedMatching Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching +Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616549 semapv:UnspecifiedMatching Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4225285 semapv:UnspecifiedMatching Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref OMIM:616852 semapv:UnspecifiedMatching Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref UMLS:C4225181 semapv:UnspecifiedMatching Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C5679996 semapv:UnspecifiedMatching Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref OMIM:616657 semapv:UnspecifiedMatching Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref UMLS:C4225254 semapv:UnspecifiedMatching Orphanet:448 Hemophilia oboInOwl:hasDbXref MedDRA:10061992 semapv:UnspecifiedMatching @@ -22874,15 +26736,19 @@ Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:Unspeci Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:UnspecifiedMatching Orphanet:448237 Zika virus disease oboInOwl:hasDbXref MESH:D000071243 semapv:UnspecifiedMatching Orphanet:448237 Zika virus disease oboInOwl:hasDbXref UMLS:C0276289 semapv:UnspecifiedMatching +Orphanet:448237 Zika virus disease oboInOwl:hasDbXref icd11:1D48 semapv:UnspecifiedMatching +Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref UMLS:C4760908 semapv:UnspecifiedMatching +Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:616291 semapv:UnspecifiedMatching Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C4225383 semapv:UnspecifiedMatching Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:613000 semapv:UnspecifiedMatching Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:616400 semapv:UnspecifiedMatching Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5681107 semapv:UnspecifiedMatching @@ -22895,6 +26761,7 @@ Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref ICD10:Q24.8 semapv:Unspecified Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref MESH:D054083 semapv:UnspecifiedMatching Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref MedDRA:10014144 semapv:UnspecifiedMatching Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref UMLS:C0013580 semapv:UnspecifiedMatching +Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref icd11:LA80.3 semapv:UnspecifiedMatching Orphanet:448426 Genetic primary orthostatic hypotension oboInOwl:hasDbXref UMLS:C5681106 semapv:UnspecifiedMatching Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10:C26.9 semapv:UnspecifiedMatching Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10:C26.9 semapv:UnspecifiedMatching @@ -22906,6 +26773,7 @@ Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C0238198 s Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref icd11:2B5B semapv:UnspecifiedMatching Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref icd11:XH9HQ1 semapv:UnspecifiedMatching Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref ICD10:C22.2 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref ICD10:C22.2 semapv:UnspecifiedMatching Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref MESH:D018197 semapv:UnspecifiedMatching Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref MedDRA:10062001 semapv:UnspecifiedMatching Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching @@ -22914,6 +26782,7 @@ Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref icd11:2C12.01 semapv:UnspecifiedM Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref ICD10:J86.9 semapv:UnspecifiedMatching +Orphanet:449266 Pleural empyema oboInOwl:hasDbXref ICD10:J86.9 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref MESH:D016724 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref UMLS:C0014013 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref icd11:CA44 semapv:UnspecifiedMatching @@ -22924,12 +26793,15 @@ Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref MedDRA:10059045 semapv:Unspeci Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref UMLS:C1142170 semapv:UnspecifiedMatching Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref icd11:1F2H semapv:UnspecifiedMatching Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref ICD10:T63.0 semapv:UnspecifiedMatching +Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref ICD10:T63.0 semapv:UnspecifiedMatching Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref MESH:D012909 semapv:UnspecifiedMatching Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref UMLS:C0037379 semapv:UnspecifiedMatching Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching +Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref UMLS:C5681104 semapv:UnspecifiedMatching Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching +Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref UMLS:C5392056 semapv:UnspecifiedMatching Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching @@ -22937,6 +26809,7 @@ Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref ICD10:I77.6 semapv:Unsp Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref UMLS:C5681105 semapv:UnspecifiedMatching Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching +Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching @@ -22952,12 +26825,14 @@ Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref MedDRA:100 Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref UMLS:C5578050 semapv:UnspecifiedMatching Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref MESH:C538234 semapv:UnspecifiedMatching Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:612874 semapv:UnspecifiedMatching Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:615511 semapv:UnspecifiedMatching Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref UMLS:C2931781 semapv:UnspecifiedMatching Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching Orphanet:450 Heterotaxia oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching Orphanet:450 Heterotaxia oboInOwl:hasDbXref MESH:D059446 semapv:UnspecifiedMatching Orphanet:450 Heterotaxia oboInOwl:hasDbXref MedDRA:10067265 semapv:UnspecifiedMatching Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching @@ -22973,13 +26848,18 @@ Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:618948 semapv:UnspecifiedMatchi Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:619702 semapv:UnspecifiedMatching Orphanet:450 Heterotaxia oboInOwl:hasDbXref UMLS:C3178805 semapv:UnspecifiedMatching Orphanet:450322 Polyclonal hyperviscosity syndrome oboInOwl:hasDbXref ICD10:D89.0 semapv:UnspecifiedMatching +Orphanet:450322 Polyclonal hyperviscosity syndrome oboInOwl:hasDbXref ICD10:D89.0 semapv:UnspecifiedMatching Orphanet:450322 Polyclonal hyperviscosity syndrome oboInOwl:hasDbXref UMLS:C5681102 semapv:UnspecifiedMatching Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching +Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref UMLS:C4736227 semapv:UnspecifiedMatching +Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref icd11:EK91.2 semapv:UnspecifiedMatching +Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref UMLS:C0311220 semapv:UnspecifiedMatching Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref ICD10:Q10.5 semapv:UnspecifiedMatching +Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref ICD10:Q10.5 semapv:UnspecifiedMatching Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref OMIM:149700 semapv:UnspecifiedMatching Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref UMLS:C5681101 semapv:UnspecifiedMatching Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref icd11:LA14.14 semapv:UnspecifiedMatching @@ -22988,6 +26868,7 @@ Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref I Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref MESH:C564563 semapv:UnspecifiedMatching Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref OMIM:300215 semapv:UnspecifiedMatching Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref UMLS:C1846171 semapv:UnspecifiedMatching +Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:453 IBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching Orphanet:453 IBIDS syndrome oboInOwl:hasDbXref UMLS:C1866505 semapv:UnspecifiedMatching Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -23009,6 +26890,7 @@ Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref ICD10:E Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref OMIM:616113 semapv:UnspecifiedMatching Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref UMLS:C4015261 semapv:UnspecifiedMatching Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref MESH:C580012 semapv:UnspecifiedMatching Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:135700 semapv:UnspecifiedMatching Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:600638 semapv:UnspecifiedMatching @@ -23018,6 +26900,8 @@ Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMI Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609612 semapv:UnspecifiedMatching Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref UMLS:C1302995 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref icd11:9C82.2 semapv:UnspecifiedMatching +Orphanet:45360 NON RARE IN EUROPE: Menière disease oboInOwl:hasDbXref ICD10:H81.0 semapv:UnspecifiedMatching Orphanet:45360 NON RARE IN EUROPE: Menière disease oboInOwl:hasDbXref ICD10:H81.0 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching @@ -23025,13 +26909,16 @@ Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref MESH:C538175 semapv:Unspecif Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref UMLS:C0263386 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref icd11:ED50.0 semapv:UnspecifiedMatching Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref MESH:C537480 semapv:UnspecifiedMatching Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:254130 semapv:UnspecifiedMatching Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:613318 semapv:UnspecifiedMatching Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref UMLS:C5553104 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref ICD10:P29.1 semapv:UnspecifiedMatching Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref ICD10:P29.1 semapv:UnspecifiedMatching Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref UMLS:C4275090 semapv:UnspecifiedMatching +Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref icd11:BC81.20 semapv:UnspecifiedMatching Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref UMLS:C0340487 semapv:UnspecifiedMatching @@ -23041,8 +26928,11 @@ Orphanet:454700 Acquired Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C5681 Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref UMLS:C0917981 semapv:UnspecifiedMatching +Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref icd11:8B60.3 semapv:UnspecifiedMatching +Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref UMLS:C5681099 semapv:UnspecifiedMatching +Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref icd11:EB41.Y semapv:UnspecifiedMatching Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref ICD10:C90.1 semapv:UnspecifiedMatching Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref ICD10:C90.1 semapv:UnspecifiedMatching Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref MESH:D007952 semapv:UnspecifiedMatching @@ -23056,11 +26946,15 @@ Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:Unspe Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 semapv:UnspecifiedMatching Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref icd11:9B01.1 semapv:UnspecifiedMatching Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref UMLS:C0346163 semapv:UnspecifiedMatching +Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching +Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref UMLS:C4303527 semapv:UnspecifiedMatching Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref icd11:8E03 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref MESH:D007729 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref OMIM:245300 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref UMLS:C0022802 semapv:UnspecifiedMatching @@ -23072,25 +26966,32 @@ Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref MedDRA:100 Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref UMLS:C0040588 semapv:UnspecifiedMatching Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref icd11:LB12.2 semapv:UnspecifiedMatching Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching +Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref MESH:C563250 semapv:UnspecifiedMatching Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref ICD10:T66 semapv:UnspecifiedMatching +Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref ICD10:T66 semapv:UnspecifiedMatching Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref MESH:D054508 semapv:UnspecifiedMatching Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref UMLS:C0520799 semapv:UnspecifiedMatching Orphanet:454836 Avian influenza oboInOwl:hasDbXref ICD10:J09 semapv:UnspecifiedMatching +Orphanet:454836 Avian influenza oboInOwl:hasDbXref ICD10:J09 semapv:UnspecifiedMatching Orphanet:454836 Avian influenza oboInOwl:hasDbXref MESH:D005585 semapv:UnspecifiedMatching Orphanet:454836 Avian influenza oboInOwl:hasDbXref MedDRA:10064097 semapv:UnspecifiedMatching Orphanet:454836 Avian influenza oboInOwl:hasDbXref UMLS:C0016627 semapv:UnspecifiedMatching +Orphanet:454836 Avian influenza oboInOwl:hasDbXref icd11:1E31 semapv:UnspecifiedMatching Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref MESH:D000088282 semapv:UnspecifiedMatching Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref UMLS:C0393570 semapv:UnspecifiedMatching Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref MESH:D053560 semapv:UnspecifiedMatching Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:146800 semapv:UnspecifiedMatching Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0432306 semapv:UnspecifiedMatching +Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching Orphanet:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5679992 semapv:UnspecifiedMatching @@ -23109,8 +27010,10 @@ Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOw Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300219 semapv:UnspecifiedMatching Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref UMLS:C1846169 semapv:UnspecifiedMatching Orphanet:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref ICD10:C17.9 semapv:UnspecifiedMatching +Orphanet:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref ICD10:C17.9 semapv:UnspecifiedMatching Orphanet:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref UMLS:C5679993 semapv:UnspecifiedMatching Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref OMIM:616199 semapv:UnspecifiedMatching Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref UMLS:C4015452 semapv:UnspecifiedMatching Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref ICD10:Q80.4 semapv:UnspecifiedMatching @@ -23119,13 +27022,18 @@ Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref MESH:C538424 semapv:Unspeci Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref MedDRA:10019163 semapv:UnspecifiedMatching Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref OMIM:242500 semapv:UnspecifiedMatching Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref UMLS:C0239849 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching +Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref OMIM:616209 semapv:UnspecifiedMatching Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref UMLS:C4015513 semapv:UnspecifiedMatching Orphanet:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C5681125 semapv:UnspecifiedMatching Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C5681126 semapv:UnspecifiedMatching Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref UMLS:C4552543 semapv:UnspecifiedMatching +Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref icd11:4A4Y semapv:UnspecifiedMatching +Orphanet:457083 Isolated splenogonadal fusion oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching Orphanet:457083 Isolated splenogonadal fusion oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching Orphanet:457083 Isolated splenogonadal fusion oboInOwl:hasDbXref UMLS:C5680001 semapv:UnspecifiedMatching Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching @@ -23138,12 +27046,19 @@ Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.0 semapv:UnspecifiedM Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.1 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.1 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.2 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.2 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.7 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.7 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.8 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.8 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref MESH:D000196 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref MedDRA:10000620 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref UMLS:C0001261 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10.0 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10.1 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10.2 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10.3 semapv:UnspecifiedMatching Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10.Y semapv:UnspecifiedMatching Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -23174,12 +27089,14 @@ Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 semapv Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref MedDRA:10009253 semapv:UnspecifiedMatching Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref UMLS:C0334488 semapv:UnspecifiedMatching Orphanet:457252 Squamous cell carcinoma of the oral tongue oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching +Orphanet:457252 Squamous cell carcinoma of the oral tongue oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref OMIM:300958 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref UMLS:C5681121 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref OMIM:616540 semapv:UnspecifiedMatching Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref UMLS:C4225289 semapv:UnspecifiedMatching Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -23191,15 +27108,19 @@ Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability- Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616362 semapv:UnspecifiedMatching Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4225352 semapv:UnspecifiedMatching Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref OMIM:616577 semapv:UnspecifiedMatching Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref UMLS:C4225276 semapv:UnspecifiedMatching Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref OMIM:617011 semapv:UnspecifiedMatching Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref UMLS:C5681123 semapv:UnspecifiedMatching +Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5681124 semapv:UnspecifiedMatching Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref OMIM:616647 semapv:UnspecifiedMatching Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref UMLS:C4225256 semapv:UnspecifiedMatching Orphanet:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching @@ -23255,6 +27176,7 @@ Orphanet:458833 Common cystic lymphatic malformation oboInOwl:hasDbXref UMLS:C56 Orphanet:458837 Rare combined vascular malformation oboInOwl:hasDbXref UMLS:C5681115 semapv:UnspecifiedMatching Orphanet:458844 Rare vascular malformation of major vessels oboInOwl:hasDbXref UMLS:C5681117 semapv:UnspecifiedMatching Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref OMIM:616267 semapv:UnspecifiedMatching Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref UMLS:C4225397 semapv:UnspecifiedMatching Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching @@ -23276,6 +27198,7 @@ Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo- Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C5681118 semapv:UnspecifiedMatching Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome oboInOwl:hasDbXref UMLS:C5679998 semapv:UnspecifiedMatching Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency oboInOwl:hasDbXref UMLS:C5681110 semapv:UnspecifiedMatching Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency oboInOwl:hasDbXref UMLS:C5681111 semapv:UnspecifiedMatching @@ -23298,12 +27221,15 @@ Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspecified Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref MESH:C537880 semapv:UnspecifiedMatching Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref OMIM:607330 semapv:UnspecifiedMatching Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref UMLS:C1846421 semapv:UnspecifiedMatching +Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref icd11:5C52.10 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:300001 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C2720163 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref icd11:EC20.01 semapv:UnspecifiedMatching +Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref MedDRA:10036685 semapv:UnspecifiedMatching Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref UMLS:C0280803 semapv:UnspecifiedMatching @@ -23311,11 +27237,14 @@ Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref icd11: Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref MedDRA:10081856 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS:C1833661 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref icd11:8E43.Y semapv:UnspecifiedMatching Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref ICD10:Q82.3 semapv:UnspecifiedMatching Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref ICD10:Q82.3 semapv:UnspecifiedMatching Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching @@ -23337,10 +27266,12 @@ Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXr Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5568143 semapv:UnspecifiedMatching +Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref UMLS:C5679991 semapv:UnspecifiedMatching +Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref UMLS:C0334540 semapv:UnspecifiedMatching @@ -23352,14 +27283,17 @@ Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref ICD10:D18.1 sema Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref UMLS:C5681097 semapv:UnspecifiedMatching Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref icd11:2E81.10 semapv:UnspecifiedMatching Orphanet:464336 BENTA disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:464336 BENTA disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:464336 BENTA disease oboInOwl:hasDbXref OMIM:616452 semapv:UnspecifiedMatching Orphanet:464336 BENTA disease oboInOwl:hasDbXref UMLS:C4551967 semapv:UnspecifiedMatching Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C3662487 semapv:UnspecifiedMatching Orphanet:464359 Benign metanephric tumor oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching +Orphanet:464359 Benign metanephric tumor oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching Orphanet:464359 Benign metanephric tumor oboInOwl:hasDbXref UMLS:C5681098 semapv:UnspecifiedMatching Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref OMIM:617022 semapv:UnspecifiedMatching Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref UMLS:C5568141 semapv:UnspecifiedMatching Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 semapv:UnspecifiedMatching @@ -23376,6 +27310,7 @@ Orphanet:464443 COG6-CGD oboInOwl:hasDbXref UMLS:C3553230 semapv:UnspecifiedMatc Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref ICD10:D74.8 semapv:UnspecifiedMatching Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref ICD10:D74.8 semapv:UnspecifiedMatching Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref UMLS:C0271905 semapv:UnspecifiedMatching +Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref icd11:3A93 semapv:UnspecifiedMatching Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref UMLS:C0237963 semapv:UnspecifiedMatching @@ -23397,6 +27332,7 @@ Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching +Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:616483 semapv:UnspecifiedMatching Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:618641 semapv:UnspecifiedMatching Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref UMLS:C5681094 semapv:UnspecifiedMatching @@ -23405,8 +27341,10 @@ Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref ICD10:Q Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref OMIM:616449 semapv:UnspecifiedMatching Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref UMLS:C4225323 semapv:UnspecifiedMatching Orphanet:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching Orphanet:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5681095 semapv:UnspecifiedMatching Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref OMIM:611543 semapv:UnspecifiedMatching Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref UMLS:C1969063 semapv:UnspecifiedMatching Orphanet:464764 Immune-mediated acquired neuromuscular junction disease oboInOwl:hasDbXref UMLS:C5681096 semapv:UnspecifiedMatching @@ -23425,6 +27363,7 @@ Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref MedDRA:1005650 Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS:C0079293 semapv:UnspecifiedMatching Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref icd11:EB43 semapv:UnspecifiedMatching Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref MESH:D062027 semapv:UnspecifiedMatching Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref MedDRA:10024515 semapv:UnspecifiedMatching Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref UMLS:C0406650 semapv:UnspecifiedMatching @@ -23444,6 +27383,7 @@ Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndr Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0271994 semapv:UnspecifiedMatching Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref icd11:3A50.4 semapv:UnspecifiedMatching Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref OMIM:235200 semapv:UnspecifiedMatching Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref UMLS:C5679990 semapv:UnspecifiedMatching Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -23451,10 +27391,13 @@ Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv: Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref OMIM:613630 semapv:UnspecifiedMatching Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref UMLS:C3150891 semapv:UnspecifiedMatching Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref MESH:D034062 semapv:UnspecifiedMatching Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref MedDRA:10072077 semapv:UnspecifiedMatching Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref OMIM:600072 semapv:UnspecifiedMatching Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref UMLS:C0206042 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref icd11:8E02.2 semapv:UnspecifiedMatching +Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:300908 semapv:UnspecifiedMatching Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5680005 semapv:UnspecifiedMatching @@ -23466,6 +27409,8 @@ Orphanet:46627 Char syndrome oboInOwl:hasDbXref MESH:C566815 semapv:UnspecifiedM Orphanet:46627 Char syndrome oboInOwl:hasDbXref OMIM:169100 semapv:UnspecifiedMatching Orphanet:46627 Char syndrome oboInOwl:hasDbXref UMLS:C1868570 semapv:UnspecifiedMatching Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref UMLS:C4544037 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref icd11:NF06.0 semapv:UnspecifiedMatching @@ -23473,9 +27418,13 @@ Orphanet:466658 Rare disease with malignant hyperthermia oboInOwl:hasDbXref UMLS Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref ICD10:T65.0 semapv:UnspecifiedMatching +Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref ICD10:T65.0 semapv:UnspecifiedMatching Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref UMLS:C0238080 semapv:UnspecifiedMatching +Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching +Orphanet:466673 NON RARE IN EUROPE: Post-herpetic neuralgia oboInOwl:hasDbXref ICD10:G53.0 semapv:UnspecifiedMatching Orphanet:466673 NON RARE IN EUROPE: Post-herpetic neuralgia oboInOwl:hasDbXref ICD10:G53.0 semapv:UnspecifiedMatching Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref ICD10:T63.2 semapv:UnspecifiedMatching +Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref ICD10:T63.2 semapv:UnspecifiedMatching Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref MESH:D065008 semapv:UnspecifiedMatching Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref UMLS:C0238417 semapv:UnspecifiedMatching Orphanet:466682 Euthyroid Graves orbitopathy oboInOwl:hasDbXref ICD10:H05.2 semapv:UnspecifiedMatching @@ -23486,6 +27435,7 @@ Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial d Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:616819 semapv:UnspecifiedMatching Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref UMLS:C4225193 semapv:UnspecifiedMatching Orphanet:466695 Supratip dysplasia oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching +Orphanet:466695 Supratip dysplasia oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching Orphanet:466695 Supratip dysplasia oboInOwl:hasDbXref UMLS:C5681127 semapv:UnspecifiedMatching Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -23506,9 +27456,11 @@ Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:617035 sem Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:617039 semapv:UnspecifiedMatching Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref UMLS:C5568140 semapv:UnspecifiedMatching Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref OMIM:616688 semapv:UnspecifiedMatching Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref UMLS:C5569025 semapv:UnspecifiedMatching Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref OMIM:616668 semapv:UnspecifiedMatching Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref UMLS:C5569024 semapv:UnspecifiedMatching Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -23520,6 +27472,7 @@ Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compac Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref OMIM:300967 semapv:UnspecifiedMatching Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref UMLS:C5569083 semapv:UnspecifiedMatching Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref OMIM:616719 semapv:UnspecifiedMatching Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref UMLS:C5569084 semapv:UnspecifiedMatching Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching @@ -23528,6 +27481,7 @@ Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defe Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:619130 semapv:UnspecifiedMatching Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref UMLS:C5568864 semapv:UnspecifiedMatching Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref UMLS:C5568863 semapv:UnspecifiedMatching Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -23553,6 +27507,7 @@ Orphanet:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref ICD10:Q04.8 Orphanet:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref UMLS:C5568850 semapv:UnspecifiedMatching Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref OMIM:616816 semapv:UnspecifiedMatching Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref UMLS:C5568849 semapv:UnspecifiedMatching Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching @@ -23566,12 +27521,14 @@ Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOw Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref OMIM:617171 semapv:UnspecifiedMatching Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref UMLS:C5568848 semapv:UnspecifiedMatching Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref OMIM:614833 semapv:UnspecifiedMatching Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref UMLS:C3553831 semapv:UnspecifiedMatching Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref OMIM:618372 semapv:UnspecifiedMatching Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref UMLS:C4302263 semapv:UnspecifiedMatching +Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref icd11:DA94.02 semapv:UnspecifiedMatching Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref UMLS:C5568838 semapv:UnspecifiedMatching @@ -23580,6 +27537,7 @@ Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXre Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref OMIM:616451 semapv:UnspecifiedMatching Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref UMLS:C5568837 semapv:UnspecifiedMatching Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref OMIM:106190 semapv:UnspecifiedMatching Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref UMLS:C5568836 semapv:UnspecifiedMatching Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching @@ -23600,12 +27558,15 @@ Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMat Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref OMIM:616721 semapv:UnspecifiedMatching Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref UMLS:C4225234 semapv:UnspecifiedMatching Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching +Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref OMIM:602079 semapv:UnspecifiedMatching Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref UMLS:C5575503 semapv:UnspecifiedMatching Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref MESH:D005633 semapv:UnspecifiedMatching Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref MedDRA:10019878 semapv:UnspecifiedMatching Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref OMIM:229600 semapv:UnspecifiedMatching @@ -23625,12 +27586,14 @@ Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref MESH:C562687 semap Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref MedDRA:10058300 semapv:UnspecifiedMatching Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref OMIM:222700 semapv:UnspecifiedMatching Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref UMLS:C0268647 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 semapv:UnspecifiedMatching Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MedDRA:10067943 semapv:UnspecifiedMatching Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C0879257 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref MedDRA:10064570 semapv:UnspecifiedMatching @@ -23651,6 +27614,7 @@ Orphanet:472 Isosporiasis oboInOwl:hasDbXref MedDRA:10023076 semapv:UnspecifiedM Orphanet:472 Isosporiasis oboInOwl:hasDbXref UMLS:C0311386 semapv:UnspecifiedMatching Orphanet:472 Isosporiasis oboInOwl:hasDbXref icd11:1A33 semapv:UnspecifiedMatching Orphanet:474 Jeune syndrome oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:474 Jeune syndrome oboInOwl:hasDbXref MESH:C537571 semapv:UnspecifiedMatching Orphanet:474 Jeune syndrome oboInOwl:hasDbXref MedDRA:10057621 semapv:UnspecifiedMatching Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:208500 semapv:UnspecifiedMatching @@ -23664,6 +27628,7 @@ Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:616300 semapv:UnspecifiedMat Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:617088 semapv:UnspecifiedMatching Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:619479 semapv:UnspecifiedMatching Orphanet:474 Jeune syndrome oboInOwl:hasDbXref UMLS:C0265275 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref icd11:LD24.B1 semapv:UnspecifiedMatching Orphanet:474347 Rare congenital anomaly of ventricular septum oboInOwl:hasDbXref UMLS:C5680111 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -23704,6 +27669,8 @@ Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619476 semapv:UnspecifiedM Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619562 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619582 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref UMLS:C0431399 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref icd11:LD20.00 semapv:UnspecifiedMatching +Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:616812 semapv:UnspecifiedMatching Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C5568138 semapv:UnspecifiedMatching @@ -23711,6 +27678,7 @@ Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar m Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref UMLS:C5568137 semapv:UnspecifiedMatching Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:615821 semapv:UnspecifiedMatching Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C5568136 semapv:UnspecifiedMatching Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching @@ -23720,12 +27688,15 @@ Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMI Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref UMLS:C5568804 semapv:UnspecifiedMatching Orphanet:476109 Axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680107 semapv:UnspecifiedMatching Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref OMIM:616740 semapv:UnspecifiedMatching Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref UMLS:C5568133 semapv:UnspecifiedMatching Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680106 semapv:UnspecifiedMatching Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C5681262 semapv:UnspecifiedMatching Orphanet:47612 Felty syndrome oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching Orphanet:47612 Felty syndrome oboInOwl:hasDbXref MESH:D005258 semapv:UnspecifiedMatching Orphanet:47612 Felty syndrome oboInOwl:hasDbXref MedDRA:10016386 semapv:UnspecifiedMatching Orphanet:47612 Felty syndrome oboInOwl:hasDbXref OMIM:134750 semapv:UnspecifiedMatching @@ -23738,12 +27709,15 @@ Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref OMIM:617061 semapv:UnspecifiedMatching Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5568801 semapv:UnspecifiedMatching Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:618279 semapv:UnspecifiedMatching Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C5567891 semapv:UnspecifiedMatching Orphanet:476403 Hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref UMLS:C5681263 semapv:UnspecifiedMatching Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref UMLS:C5567789 semapv:UnspecifiedMatching Orphanet:477 KID syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:477 KID syndrome oboInOwl:hasDbXref MESH:C536168 semapv:UnspecifiedMatching Orphanet:477 KID syndrome oboInOwl:hasDbXref MedDRA:10048786 semapv:UnspecifiedMatching Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:148210 semapv:UnspecifiedMatching @@ -23753,6 +27727,7 @@ Orphanet:477 KID syndrome oboInOwl:hasDbXref UMLS:C0265336 semapv:UnspecifiedMat Orphanet:477 KID syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching Orphanet:477647 Type 1 interferonopathy oboInOwl:hasDbXref UMLS:C5681258 semapv:UnspecifiedMatching Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref ICD10:M06.4 semapv:UnspecifiedMatching +Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref ICD10:M06.4 semapv:UnspecifiedMatching Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref UMLS:C1302753 semapv:UnspecifiedMatching Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref icd11:FB51.3 semapv:UnspecifiedMatching Orphanet:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching @@ -23768,11 +27743,14 @@ Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDb Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref OMIM:616539 semapv:UnspecifiedMatching Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref UMLS:C5567741 semapv:UnspecifiedMatching Orphanet:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching +Orphanet:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching Orphanet:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref UMLS:C5568571 semapv:UnspecifiedMatching Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching +Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref MedDRA:10065988 semapv:UnspecifiedMatching Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref UMLS:C0410005 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref OMIM:618564 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref UMLS:C5231411 semapv:UnspecifiedMatching Orphanet:477754 Genetic cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5681259 semapv:UnspecifiedMatching @@ -23798,6 +27776,7 @@ Orphanet:477805 Genetic cardiac malformation oboInOwl:hasDbXref UMLS:C5681255 se Orphanet:477808 Other genetic dermis disorder oboInOwl:hasDbXref UMLS:C5681256 semapv:UnspecifiedMatching Orphanet:477811 Rare hypercholesterolemia oboInOwl:hasDbXref UMLS:C5681254 semapv:UnspecifiedMatching Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref OMIM:616632 semapv:UnspecifiedMatching Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5567650 semapv:UnspecifiedMatching Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching @@ -23805,9 +27784,11 @@ Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXr Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref OMIM:616652 semapv:UnspecifiedMatching Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref UMLS:C4225255 semapv:UnspecifiedMatching Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref MedDRA:10081313 semapv:UnspecifiedMatching Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref OMIM:616592 semapv:UnspecifiedMatching Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref UMLS:C4225270 semapv:UnspecifiedMatching +Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref OMIM:616622 semapv:UnspecifiedMatching @@ -23817,6 +27798,7 @@ Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-develop Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref OMIM:616728 semapv:UnspecifiedMatching Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5567644 semapv:UnspecifiedMatching Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref MedDRA:10053142 semapv:UnspecifiedMatching Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching @@ -23857,34 +27839,45 @@ Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasD Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref OMIM:616488 semapv:UnspecifiedMatching Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref UMLS:C4225308 semapv:UnspecifiedMatching Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref ICD10:Q55.4 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref ICD10:Q55.4 semapv:UnspecifiedMatching Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MESH:C535984 semapv:UnspecifiedMatching Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MedDRA:10010670 semapv:UnspecifiedMatching Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:277180 semapv:UnspecifiedMatching Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:300985 semapv:UnspecifiedMatching Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref UMLS:C0403814 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref icd11:LB57 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 semapv:UnspecifiedMatching Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MedDRA:10048804 semapv:UnspecifiedMatching Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 semapv:UnspecifiedMatching Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS:C0022541 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref icd11:9C82.0 semapv:UnspecifiedMatching +Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619868 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C5680100 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref ICD10:Q44.4 semapv:UnspecifiedMatching +Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref ICD10:Q44.4 semapv:UnspecifiedMatching Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref MESH:D015529 semapv:UnspecifiedMatching Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref UMLS:C0008340 semapv:UnspecifiedMatching +Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref icd11:LB20.20 semapv:UnspecifiedMatching +Orphanet:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref ICD10:K80.3 semapv:UnspecifiedMatching Orphanet:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref ICD10:K80.3 semapv:UnspecifiedMatching Orphanet:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref UMLS:C5576557 semapv:UnspecifiedMatching Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref ICD10:K83.8 semapv:UnspecifiedMatching Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref ICD10:K83.8 semapv:UnspecifiedMatching Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref UMLS:C0022230 semapv:UnspecifiedMatching Orphanet:480520 Caroli syndrome oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:480520 Caroli syndrome oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref ICD10:K76.4 semapv:UnspecifiedMatching Orphanet:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref ICD10:K76.4 semapv:UnspecifiedMatching Orphanet:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref UMLS:C5680101 semapv:UnspecifiedMatching @@ -23894,9 +27887,12 @@ Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome oboInOwl:ha Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref ICD10:Q26.5 semapv:UnspecifiedMatching Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref ICD10:Q26.5 semapv:UnspecifiedMatching Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref UMLS:C1290495 semapv:UnspecifiedMatching +Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref icd11:DB98.Y semapv:UnspecifiedMatching Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching +Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref UMLS:C5681249 semapv:UnspecifiedMatching Orphanet:480549 Non-severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C5680098 semapv:UnspecifiedMatching @@ -23907,12 +27903,15 @@ Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref UMLS:C0152244 semapv:Uns Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref icd11:FB80.6 semapv:UnspecifiedMatching Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref icd11:XH23E0 semapv:UnspecifiedMatching Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref OMIM:617394 semapv:UnspecifiedMatching Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref UMLS:C5681248 semapv:UnspecifiedMatching Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref OMIM:617232 semapv:UnspecifiedMatching Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref UMLS:C4310660 semapv:UnspecifiedMatching Orphanet:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref UMLS:C5567526 semapv:UnspecifiedMatching Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching @@ -23975,15 +27974,19 @@ Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:Un Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref UMLS:C2931870 semapv:UnspecifiedMatching Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref icd11:LA05.61 semapv:UnspecifiedMatching Orphanet:482 Kimura disease oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:482 Kimura disease oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching Orphanet:482 Kimura disease oboInOwl:hasDbXref MESH:D000082242 semapv:UnspecifiedMatching Orphanet:482 Kimura disease oboInOwl:hasDbXref MedDRA:10048640 semapv:UnspecifiedMatching Orphanet:482 Kimura disease oboInOwl:hasDbXref UMLS:C0033838 semapv:UnspecifiedMatching +Orphanet:482 Kimura disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching Orphanet:482072 HTRA1-related cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5680099 semapv:UnspecifiedMatching Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref OMIM:616779 semapv:UnspecifiedMatching Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5568568 semapv:UnspecifiedMatching Orphanet:482092 Rare idiopathic macular telangiectasia oboInOwl:hasDbXref UMLS:C5681247 semapv:UnspecifiedMatching Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref OMIM:617030 semapv:UnspecifiedMatching Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref UMLS:C5567521 semapv:UnspecifiedMatching Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome oboInOwl:hasDbXref UMLS:C5567520 semapv:UnspecifiedMatching @@ -23991,12 +27994,15 @@ Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasD Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref UMLS:C5681236 semapv:UnspecifiedMatching +Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref icd11:3B15 semapv:UnspecifiedMatching +Orphanet:48372 Nodular regenerative hyperplasia of the liver oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:48372 Nodular regenerative hyperplasia of the liver oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:48372 Nodular regenerative hyperplasia of the liver oboInOwl:hasDbXref icd11:DB98.2 semapv:UnspecifiedMatching Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10:L13.1 semapv:UnspecifiedMatching Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10:L13.1 semapv:UnspecifiedMatching Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref MedDRA:10042342 semapv:UnspecifiedMatching Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS:C0600336 semapv:UnspecifiedMatching +Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref icd11:EB2Y semapv:UnspecifiedMatching Orphanet:484 NON RARE IN EUROPE: Klinefelter syndrome oboInOwl:hasDbXref ICD10:Q98.0 semapv:UnspecifiedMatching Orphanet:484 NON RARE IN EUROPE: Klinefelter syndrome oboInOwl:hasDbXref ICD10:Q98.0 semapv:UnspecifiedMatching Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -24011,6 +28017,7 @@ Orphanet:48435 Postinfectious vasculitis oboInOwl:hasDbXref UMLS:C4510302 semapv Orphanet:48471 Lissencephaly oboInOwl:hasDbXref MESH:D054082 semapv:UnspecifiedMatching Orphanet:48471 Lissencephaly oboInOwl:hasDbXref MedDRA:10048911 semapv:UnspecifiedMatching Orphanet:48471 Lissencephaly oboInOwl:hasDbXref UMLS:C0266463 semapv:UnspecifiedMatching +Orphanet:48471 Lissencephaly oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 semapv:UnspecifiedMatching @@ -24033,6 +28040,7 @@ Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref ICD10:Q06.8 Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref UMLS:C5567519 semapv:UnspecifiedMatching Orphanet:485382 Genetic premature ovarian failure oboInOwl:hasDbXref UMLS:C5681245 semapv:UnspecifiedMatching Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref ICD10:Q93.7 semapv:UnspecifiedMatching +Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref ICD10:Q93.7 semapv:UnspecifiedMatching Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref UMLS:C5680097 semapv:UnspecifiedMatching Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching @@ -24040,6 +28048,8 @@ Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref UM Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching +Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref icd11:5C5Y semapv:UnspecifiedMatching +Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref UMLS:C5680096 semapv:UnspecifiedMatching Orphanet:485631 Congenital bile acid synthesis defect oboInOwl:hasDbXref UMLS:C5680095 semapv:UnspecifiedMatching @@ -24065,14 +28075,18 @@ Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone frac Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616867 semapv:UnspecifiedMatching Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref UMLS:C5567518 semapv:UnspecifiedMatching Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref OMIM:617066 semapv:UnspecifiedMatching Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref UMLS:C4310736 semapv:UnspecifiedMatching Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching +Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MESH:D054685 semapv:UnspecifiedMatching Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MedDRA:10065857 semapv:UnspecifiedMatching Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref UMLS:C1292753 semapv:UnspecifiedMatching +Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref icd11:2A81.9 semapv:UnspecifiedMatching Orphanet:486955 Rare pediatric rheumatologic disease oboInOwl:hasDbXref UMLS:C5681264 semapv:UnspecifiedMatching Orphanet:487 Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:487 Krabbe disease oboInOwl:hasDbXref MESH:D007965 semapv:UnspecifiedMatching Orphanet:487 Krabbe disease oboInOwl:hasDbXref MedDRA:10023492 semapv:UnspecifiedMatching Orphanet:487 Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching @@ -24080,6 +28094,7 @@ Orphanet:487 Krabbe disease oboInOwl:hasDbXref OMIM:611722 semapv:UnspecifiedMat Orphanet:487 Krabbe disease oboInOwl:hasDbXref UMLS:C0023521 semapv:UnspecifiedMatching Orphanet:487 Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching Orphanet:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref OMIM:616737 semapv:UnspecifiedMatching @@ -24088,6 +28103,7 @@ Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 s Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref UMLS:C5680109 semapv:UnspecifiedMatching Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref UMLS:C5567515 semapv:UnspecifiedMatching Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -24095,6 +28111,7 @@ Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref MESH:C566559 semapv:Unspeci Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref OMIM:602342 semapv:UnspecifiedMatching Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref UMLS:C1865644 semapv:UnspecifiedMatching Orphanet:488 Urachal cyst oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:488 Urachal cyst oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching Orphanet:488 Urachal cyst oboInOwl:hasDbXref MESH:D014496 semapv:UnspecifiedMatching Orphanet:488 Urachal cyst oboInOwl:hasDbXref MedDRA:10065375 semapv:UnspecifiedMatching Orphanet:488 Urachal cyst oboInOwl:hasDbXref UMLS:C0041915 semapv:UnspecifiedMatching @@ -24104,9 +28121,12 @@ Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrom Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref OMIM:616834 semapv:UnspecifiedMatching Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref UMLS:C5567510 semapv:UnspecifiedMatching Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref MESH:C536004 semapv:UnspecifiedMatching Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref OMIM:604290 semapv:UnspecifiedMatching Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref UMLS:C0878682 semapv:UnspecifiedMatching +Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref icd11:3A00.Y semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:616780 semapv:UnspecifiedMatching Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:617743 semapv:UnspecifiedMatching @@ -24120,18 +28140,24 @@ Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref OMIM:616722 semapv:UnspecifiedMatching Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref UMLS:C5567488 semapv:UnspecifiedMatching Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:616890 semapv:UnspecifiedMatching Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C5567487 semapv:UnspecifiedMatching Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref MedDRA:10086444 semapv:UnspecifiedMatching Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref UMLS:C5200735 semapv:UnspecifiedMatching +Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref OMIM:607278 semapv:UnspecifiedMatching @@ -24141,6 +28167,7 @@ Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref ICD10:D47.1 semapv Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref OMIM:616604 semapv:UnspecifiedMatching Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref UMLS:C4225449 semapv:UnspecifiedMatching Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref OMIM:616625 semapv:UnspecifiedMatching Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref UMLS:C5567486 semapv:UnspecifiedMatching Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -24149,6 +28176,7 @@ Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref ME Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref OMIM:611929 semapv:UnspecifiedMatching Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref UMLS:C2677809 semapv:UnspecifiedMatching Orphanet:488437 SIX2-related frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:488437 SIX2-related frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:488437 SIX2-related frontonasal dysplasia oboInOwl:hasDbXref UMLS:C5567484 semapv:UnspecifiedMatching Orphanet:488586 Congenital amyoplasia oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:488586 Congenital amyoplasia oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching @@ -24184,15 +28212,20 @@ Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorde Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref OMIM:616954 semapv:UnspecifiedMatching Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref UMLS:C4310778 semapv:UnspecifiedMatching Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching +Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref OMIM:616871 semapv:UnspecifiedMatching Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref UMLS:C5567478 semapv:UnspecifiedMatching Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref UMLS:C3280443 semapv:UnspecifiedMatching Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching +Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref UMLS:C0751357 semapv:UnspecifiedMatching +Orphanet:48918 Focal myositis oboInOwl:hasDbXref icd11:4A41.Y semapv:UnspecifiedMatching +Orphanet:49 Penile agenesis oboInOwl:hasDbXref ICD10:Q55.5 semapv:UnspecifiedMatching Orphanet:49 Penile agenesis oboInOwl:hasDbXref ICD10:Q55.5 semapv:UnspecifiedMatching Orphanet:49 Penile agenesis oboInOwl:hasDbXref MESH:C536649 semapv:UnspecifiedMatching Orphanet:49 Penile agenesis oboInOwl:hasDbXref MedDRA:10087156 semapv:UnspecifiedMatching @@ -24201,6 +28234,7 @@ Orphanet:49 Penile agenesis oboInOwl:hasDbXref icd11:LB50 semapv:UnspecifiedMatc Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref ICD10:Q43.0 semapv:UnspecifiedMatching Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref ICD10:Q43.0 semapv:UnspecifiedMatching Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref UMLS:C0266180 semapv:UnspecifiedMatching +Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref icd11:LB03.Y semapv:UnspecifiedMatching Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref ICD10:K66.2 semapv:UnspecifiedMatching Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref ICD10:K66.2 semapv:UnspecifiedMatching Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref MESH:D012185 semapv:UnspecifiedMatching @@ -24218,12 +28252,15 @@ Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref ICD10:L72.1 sema Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref ICD10:L72.1 semapv:UnspecifiedMatching Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref UMLS:C2959585 semapv:UnspecifiedMatching Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref MESH:C536150 semapv:UnspecifiedMatching +Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref icd11:2C31.1 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref UMLS:C0157743 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref icd11:EB01.Y semapv:UnspecifiedMatching Orphanet:49382 Achromatopsia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:49382 Achromatopsia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:49382 Achromatopsia oboInOwl:hasDbXref MedDRA:10000454 semapv:UnspecifiedMatching @@ -24234,6 +28271,8 @@ Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613093 semapv:UnspecifiedMa Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613856 semapv:UnspecifiedMatching Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:616517 semapv:UnspecifiedMatching Orphanet:49382 Achromatopsia oboInOwl:hasDbXref UMLS:C0152200 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref MESH:C536457 semapv:UnspecifiedMatching Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref OMIM:124500 semapv:UnspecifiedMatching @@ -24243,15 +28282,21 @@ Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref ICD1 Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref UMLS:C5567477 semapv:UnspecifiedMatching Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref OMIM:617068 semapv:UnspecifiedMatching Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref UMLS:C0677055 semapv:UnspecifiedMatching +Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref icd11:2C70 semapv:UnspecifiedMatching +Orphanet:494421 Sacrococcygeal teratoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching Orphanet:494421 Sacrococcygeal teratoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching Orphanet:494421 Sacrococcygeal teratoma oboInOwl:hasDbXref UMLS:C0559459 semapv:UnspecifiedMatching Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching +Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref UMLS:C0340639 semapv:UnspecifiedMatching Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref icd11:BD51.0 semapv:UnspecifiedMatching Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis oboInOwl:hasDbXref UMLS:C5567467 semapv:UnspecifiedMatching Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching @@ -24262,20 +28307,25 @@ Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature- Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617763 semapv:UnspecifiedMatching Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5567466 semapv:UnspecifiedMatching Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref MESH:C565121 semapv:UnspecifiedMatching Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:124900 semapv:UnspecifiedMatching Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C1852282 semapv:UnspecifiedMatching Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref MedDRA:10041875 semapv:UnspecifiedMatching Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref icd11:2C70.2 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref MedDRA:10082639 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref icd11:2C70.0 semapv:UnspecifiedMatching Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref MedDRA:10063536 semapv:UnspecifiedMatching Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref UMLS:C1336975 semapv:UnspecifiedMatching Orphanet:494457 Rare hyperkinetic movement disorder oboInOwl:hasDbXref UMLS:C5681221 semapv:UnspecifiedMatching Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref OMIM:616921 semapv:UnspecifiedMatching Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref UMLS:C5567464 semapv:UnspecifiedMatching Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching @@ -24283,7 +28333,10 @@ Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref OMIM:616922 semapv:UnspecifiedMatching Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref UMLS:C5567463 semapv:UnspecifiedMatching Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C12 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C12 semapv:UnspecifiedMatching Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.0 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.0 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.2 semapv:UnspecifiedMatching Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.2 semapv:UnspecifiedMatching Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.8 semapv:UnspecifiedMatching Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.8 semapv:UnspecifiedMatching @@ -24297,12 +28350,15 @@ Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref MedDRA: Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref UMLS:C0280324 semapv:UnspecifiedMatching Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1851480 semapv:UnspecifiedMatching Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref UMLS:C4015635 semapv:UnspecifiedMatching Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref ICD10:D65 semapv:UnspecifiedMatching +Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref ICD10:D65 semapv:UnspecifiedMatching Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref MedDRA:10037556 semapv:UnspecifiedMatching Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref UMLS:C4510896 semapv:UnspecifiedMatching Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref icd11:3B20 semapv:UnspecifiedMatching @@ -24317,6 +28373,7 @@ Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5567455 semapv:UnspecifiedMatching Orphanet:495879 Congenital agenesis of the scrotum oboInOwl:hasDbXref ICD10:Q55.2 semapv:UnspecifiedMatching +Orphanet:495879 Congenital agenesis of the scrotum oboInOwl:hasDbXref ICD10:Q55.2 semapv:UnspecifiedMatching Orphanet:495879 Congenital agenesis of the scrotum oboInOwl:hasDbXref UMLS:C1387020 semapv:UnspecifiedMatching Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching @@ -24324,11 +28381,14 @@ Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:252270 sema Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:619041 semapv:UnspecifiedMatching Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref UMLS:C5681220 semapv:UnspecifiedMatching Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617193 semapv:UnspecifiedMatching Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref UMLS:C5567454 semapv:UnspecifiedMatching Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref OMIM:617114 semapv:UnspecifiedMatching Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref UMLS:C5567453 semapv:UnspecifiedMatching Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching @@ -24354,12 +28414,15 @@ Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome Orphanet:496916 Rare genetic hyperkinetic movement disorder oboInOwl:hasDbXref UMLS:C5681226 semapv:UnspecifiedMatching Orphanet:496924 Non-inflammatory vasculopathy oboInOwl:hasDbXref UMLS:C5681227 semapv:UnspecifiedMatching Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching +Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref MESH:D000080443 semapv:UnspecifiedMatching Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref UMLS:C2986658 semapv:UnspecifiedMatching Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect oboInOwl:hasDbXref UMLS:C5680089 semapv:UnspecifiedMatching Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref UMLS:C1302848 semapv:UnspecifiedMatching +Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref icd11:LC00.Y semapv:UnspecifiedMatching +Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref UMLS:C5567450 semapv:UnspecifiedMatching @@ -24367,12 +28430,14 @@ Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref ICD10:G11.2 se Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref UMLS:C4310763 semapv:UnspecifiedMatching +Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref OMIM:617054 semapv:UnspecifiedMatching Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref UMLS:C4310743 semapv:UnspecifiedMatching Orphanet:498 Keratosis pilaris atrophicans oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching @@ -24380,16 +28445,20 @@ Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref ICD10:C61 sem Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref UMLS:C1335409 semapv:UnspecifiedMatching Orphanet:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref ICD10:N94.8 semapv:UnspecifiedMatching +Orphanet:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref ICD10:N94.8 semapv:UnspecifiedMatching Orphanet:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref UMLS:C3553418 semapv:UnspecifiedMatching Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:D53.1 semapv:UnspecifiedMatching +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:D53.1 semapv:UnspecifiedMatching Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 semapv:UnspecifiedMatching Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 semapv:UnspecifiedMatching Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C0342287 semapv:UnspecifiedMatching +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref icd11:5C63.Y semapv:UnspecifiedMatching Orphanet:498345 Biliary atresia and associated disorders oboInOwl:hasDbXref UMLS:C5681238 semapv:UnspecifiedMatching Orphanet:498350 Syndromic biliary atresia oboInOwl:hasDbXref UMLS:C5681237 semapv:UnspecifiedMatching Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L85.1 semapv:UnspecifiedMatching Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L85.1 semapv:UnspecifiedMatching Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C4087301 semapv:UnspecifiedMatching +Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref icd11:EK5Y semapv:UnspecifiedMatching Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy oboInOwl:hasDbXref UMLS:C5681235 semapv:UnspecifiedMatching Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement oboInOwl:hasDbXref UMLS:C5681234 semapv:UnspecifiedMatching Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations oboInOwl:hasDbXref UMLS:C5681233 semapv:UnspecifiedMatching @@ -24400,27 +28469,38 @@ Orphanet:498464 Non-syndromic preaxial polydactyly oboInOwl:hasDbXref UMLS:C5681 Orphanet:498467 Non-syndromic postaxial polydactyly oboInOwl:hasDbXref UMLS:C5681228 semapv:UnspecifiedMatching Orphanet:498470 Non-syndromic complex polydactyly oboInOwl:hasDbXref UMLS:C5681241 semapv:UnspecifiedMatching Orphanet:498474 Hyaline fibromatosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:498474 Hyaline fibromatosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:498474 Hyaline fibromatosis syndrome oboInOwl:hasDbXref UMLS:C5574677 semapv:UnspecifiedMatching Orphanet:498477 Ectrodactyly with and without other manifestations oboInOwl:hasDbXref UMLS:C5681242 semapv:UnspecifiedMatching Orphanet:498481 LRP5-related primary osteoporosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:498481 LRP5-related primary osteoporosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:498481 LRP5-related primary osteoporosis oboInOwl:hasDbXref UMLS:C5567241 semapv:UnspecifiedMatching Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref MESH:C537355 semapv:UnspecifiedMatching Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref OMIM:608811 semapv:UnspecifiedMatching Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref UMLS:C1837316 semapv:UnspecifiedMatching +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref UMLS:C5567236 semapv:UnspecifiedMatching +Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:498491 Complete hemimelia oboInOwl:hasDbXref UMLS:C5681243 semapv:UnspecifiedMatching Orphanet:498494 Mirror-image polydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:498494 Mirror-image polydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref UMLS:C5681240 semapv:UnspecifiedMatching Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref OMIM:272150 semapv:UnspecifiedMatching Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref UMLS:C5399870 semapv:UnspecifiedMatching Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref UMLS:C5680092 semapv:UnspecifiedMatching Orphanet:499 Kerion celsi oboInOwl:hasDbXref ICD10:B35.0 semapv:UnspecifiedMatching +Orphanet:499 Kerion celsi oboInOwl:hasDbXref ICD10:B35.0 semapv:UnspecifiedMatching Orphanet:499 Kerion celsi oboInOwl:hasDbXref UMLS:C0276742 semapv:UnspecifiedMatching Orphanet:499 Kerion celsi oboInOwl:hasDbXref icd11:1F28.4 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.0 semapv:UnspecifiedMatching @@ -24434,10 +28514,13 @@ Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.3 semapv:Unspec Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.4 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.4 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.5 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.5 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.6 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.6 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref MESH:D013590 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref MedDRA:10010641 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref UMLS:C0039131 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref icd11:1A60 semapv:UnspecifiedMatching Orphanet:499047 Autoimmune/inflammatory optic neuropathy oboInOwl:hasDbXref UMLS:C5681239 semapv:UnspecifiedMatching Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching @@ -24446,20 +28529,27 @@ Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:Unsp Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref MedDRA:10030942 semapv:UnspecifiedMatching Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref UMLS:C0022023 semapv:UnspecifiedMatching +Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref icd11:9C40.1 semapv:UnspecifiedMatching Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref UMLS:C5680094 semapv:UnspecifiedMatching +Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref icd11:9C40.2 semapv:UnspecifiedMatching Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref ICD10:H05.0 semapv:UnspecifiedMatching Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref ICD10:H05.0 semapv:UnspecifiedMatching Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref UMLS:C5680093 semapv:UnspecifiedMatching Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref icd11:9C40.3 semapv:UnspecifiedMatching Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching +Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching +Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.4 semapv:UnspecifiedMatching Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.4 semapv:UnspecifiedMatching Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref MedDRA:10075614 semapv:UnspecifiedMatching Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref UMLS:C0585475 semapv:UnspecifiedMatching Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609016 semapv:UnspecifiedMatching Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3711645 semapv:UnspecifiedMatching +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref MedDRA:10054935 semapv:UnspecifiedMatching @@ -24467,6 +28557,7 @@ Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMa Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref UMLS:C0175713 semapv:UnspecifiedMatching Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:D044542 semapv:UnspecifiedMatching Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MedDRA:10062901 semapv:UnspecifiedMatching Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:151100 semapv:UnspecifiedMatching @@ -24482,8 +28573,10 @@ Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref OMIM:617099 semapv:UnspecifiedMatching Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref UMLS:C4310614 semapv:UnspecifiedMatching Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617107 semapv:UnspecifiedMatching Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref UMLS:C4310715 semapv:UnspecifiedMatching +Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref OMIM:236500 semapv:UnspecifiedMatching @@ -24528,11 +28621,14 @@ Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref OMI Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref UMLS:C0280313 semapv:UnspecifiedMatching Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref icd11:2B6A.0 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref MESH:C567020 semapv:UnspecifiedMatching Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref OMIM:611087 semapv:UnspecifiedMatching Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref UMLS:C1970203 semapv:UnspecifiedMatching @@ -24541,13 +28637,16 @@ Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-ste Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref OMIM:617393 semapv:UnspecifiedMatching Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref UMLS:C5568106 semapv:UnspecifiedMatching Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref OMIM:615198 semapv:UnspecifiedMatching Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C3554665 semapv:UnspecifiedMatching Orphanet:501 Lafora disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:501 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching Orphanet:501 Lafora disease oboInOwl:hasDbXref MedDRA:10054030 semapv:UnspecifiedMatching Orphanet:501 Lafora disease oboInOwl:hasDbXref OMIM:254780 semapv:UnspecifiedMatching Orphanet:501 Lafora disease oboInOwl:hasDbXref UMLS:C0751783 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching @@ -24559,16 +28658,20 @@ Orphanet:502305 Cochleovestibular malformation oboInOwl:hasDbXref ICD10:Q16.5 se Orphanet:502305 Cochleovestibular malformation oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching Orphanet:502305 Cochleovestibular malformation oboInOwl:hasDbXref UMLS:C5681225 semapv:UnspecifiedMatching Orphanet:502318 Cochlear nerve deficiency oboInOwl:hasDbXref ICD10:H93.3 semapv:UnspecifiedMatching +Orphanet:502318 Cochlear nerve deficiency oboInOwl:hasDbXref ICD10:H93.3 semapv:UnspecifiedMatching Orphanet:502318 Cochlear nerve deficiency oboInOwl:hasDbXref UMLS:C5568535 semapv:UnspecifiedMatching Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching +Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref MedDRA:10041857 semapv:UnspecifiedMatching Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref UMLS:C0585362 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 semapv:UnspecifiedMatching +Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref UMLS:C0280302 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref icd11:2B60.1 semapv:UnspecifiedMatching Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref OMIM:617675 semapv:UnspecifiedMatching Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref UMLS:C4540096 semapv:UnspecifiedMatching Orphanet:502430 Weiss-Kruszka Syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -24583,16 +28686,20 @@ Orphanet:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 s Orphanet:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref UMLS:C5680087 semapv:UnspecifiedMatching Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref OMIM:617762 semapv:UnspecifiedMatching Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref UMLS:C4540358 semapv:UnspecifiedMatching Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref ICD10:L51.8 semapv:UnspecifiedMatching Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref ICD10:L51.8 semapv:UnspecifiedMatching Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref UMLS:C3241919 semapv:UnspecifiedMatching Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref ICD10:C45.0 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref ICD10:C45.0 semapv:UnspecifiedMatching Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref MESH:D008654 semapv:UnspecifiedMatching Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref MedDRA:10059518 semapv:UnspecifiedMatching Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref OMIM:156240 semapv:UnspecifiedMatching Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref UMLS:C1377913 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref icd11:2C26.0 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:503 Larsen syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:503 Larsen syndrome oboInOwl:hasDbXref MESH:C580241 semapv:UnspecifiedMatching Orphanet:503 Larsen syndrome oboInOwl:hasDbXref MedDRA:10073856 semapv:UnspecifiedMatching @@ -24600,6 +28707,7 @@ Orphanet:503 Larsen syndrome oboInOwl:hasDbXref OMIM:150250 semapv:UnspecifiedMa Orphanet:503 Larsen syndrome oboInOwl:hasDbXref UMLS:C0175778 semapv:UnspecifiedMatching Orphanet:503 Larsen syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching Orphanet:504 Creeping myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:504 Creeping myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:504 Creeping myiasis oboInOwl:hasDbXref MESH:D007815 semapv:UnspecifiedMatching Orphanet:504 Creeping myiasis oboInOwl:hasDbXref MedDRA:10059547 semapv:UnspecifiedMatching Orphanet:504 Creeping myiasis oboInOwl:hasDbXref UMLS:C1562462 semapv:UnspecifiedMatching @@ -24615,11 +28723,14 @@ Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl: Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref UMLS:C4479588 semapv:UnspecifiedMatching Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref OMIM:300988 semapv:UnspecifiedMatching Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref UMLS:C5568123 semapv:UnspecifiedMatching +Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref UMLS:C4273658 semapv:UnspecifiedMatching +Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref icd11:EA91.2 semapv:UnspecifiedMatching Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching @@ -24631,13 +28742,16 @@ Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:61769 Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref UMLS:C4540171 semapv:UnspecifiedMatching Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref OMIM:617827 semapv:UnspecifiedMatching Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref UMLS:C5568132 semapv:UnspecifiedMatching +Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref OMIM:617452 semapv:UnspecifiedMatching Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5568770 semapv:UnspecifiedMatching Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref OMIM:617595 semapv:UnspecifiedMatching Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref UMLS:C5568771 semapv:UnspecifiedMatching Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -24648,6 +28762,7 @@ Orphanet:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref Orphanet:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref ICD10:J95.8 semapv:UnspecifiedMatching Orphanet:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref UMLS:C5680083 semapv:UnspecifiedMatching Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref MESH:C564064 semapv:UnspecifiedMatching Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref MedDRA:10083005 semapv:UnspecifiedMatching Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching @@ -24656,6 +28771,8 @@ Orphanet:506 Leigh syndrome oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMa Orphanet:506 Leigh syndrome oboInOwl:hasDbXref MedDRA:10062950 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref UMLS:C0023264 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching +Orphanet:506052 Neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref MESH:C536126 semapv:UnspecifiedMatching @@ -24665,6 +28782,7 @@ Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas oboInOwl:ha Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref UMLS:C2205506 semapv:UnspecifiedMatching +Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref UMLS:C5568577 semapv:UnspecifiedMatching @@ -24697,15 +28815,23 @@ Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref OMIM:617557 semapv Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref UMLS:C4479652 semapv:UnspecifiedMatching Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref icd11:EB13.2 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.1 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.1 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.2 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.2 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.9 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.9 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref MESH:D007896 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref MedDRA:10024198 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref UMLS:C0023281 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref icd11:1F54 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref icd11:1F54.0 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref icd11:1F54.1 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref icd11:1F54.2 semapv:UnspecifiedMatching Orphanet:508 Leprechaunism oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:508 Leprechaunism oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:508 Leprechaunism oboInOwl:hasDbXref MESH:D056731 semapv:UnspecifiedMatching @@ -24714,6 +28840,7 @@ Orphanet:508 Leprechaunism oboInOwl:hasDbXref OMIM:246200 semapv:UnspecifiedMatc Orphanet:508 Leprechaunism oboInOwl:hasDbXref UMLS:C0265344 semapv:UnspecifiedMatching Orphanet:508 Leprechaunism oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref OMIM:609655 semapv:UnspecifiedMatching Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref UMLS:C4509954 semapv:UnspecifiedMatching Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching @@ -24728,14 +28855,17 @@ Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl: Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref OMIM:608154 semapv:UnspecifiedMatching Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref UMLS:C4302920 semapv:UnspecifiedMatching +Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref UMLS:C4305104 semapv:UnspecifiedMatching Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref MESH:C564332 semapv:UnspecifiedMatching Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref OMIM:607812 semapv:UnspecifiedMatching Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS:C1843042 semapv:UnspecifiedMatching +Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref icd11:LB70.Y semapv:UnspecifiedMatching Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref MESH:C563780 semapv:UnspecifiedMatching @@ -24746,6 +28876,7 @@ Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboI Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref OMIM:607944 semapv:UnspecifiedMatching Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref UMLS:C1842763 semapv:UnspecifiedMatching Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref UMLS:C4302550 semapv:UnspecifiedMatching Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome oboInOwl:hasDbXref ICD10:G56.0 semapv:UnspecifiedMatching Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome oboInOwl:hasDbXref ICD10:G56.0 semapv:UnspecifiedMatching @@ -24756,6 +28887,7 @@ Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref MedDRA:10007729 semapv:Uns Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref UMLS:C0007361 semapv:UnspecifiedMatching Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref icd11:1B98 semapv:UnspecifiedMatching Orphanet:508410 Familial intestinal malrotation oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching +Orphanet:508410 Familial intestinal malrotation oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref UMLS:C5568767 semapv:UnspecifiedMatching @@ -24790,6 +28922,7 @@ Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficien Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:618116 semapv:UnspecifiedMatching Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C5567897 semapv:UnspecifiedMatching Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.0 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.0 semapv:UnspecifiedMatching Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.8 semapv:UnspecifiedMatching Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.8 semapv:UnspecifiedMatching Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.9 semapv:UnspecifiedMatching @@ -24797,10 +28930,13 @@ Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.9 semapv:UnspecifiedMatc Orphanet:509 Leptospirosis oboInOwl:hasDbXref MESH:D007922 semapv:UnspecifiedMatching Orphanet:509 Leptospirosis oboInOwl:hasDbXref MedDRA:10024238 semapv:UnspecifiedMatching Orphanet:509 Leptospirosis oboInOwl:hasDbXref UMLS:C0023364 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref icd11:1B91 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref MESH:D020042 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref UMLS:C0398367 semapv:UnspecifiedMatching +Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:607654 semapv:UnspecifiedMatching @@ -24808,11 +28944,13 @@ Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:612908 s Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C4707237 semapv:UnspecifiedMatching Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching +Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref MESH:C536155 semapv:UnspecifiedMatching Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref OMIM:148370 semapv:UnspecifiedMatching Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref UMLS:C0406756 semapv:UnspecifiedMatching Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref MESH:C565607 semapv:UnspecifiedMatching Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 semapv:UnspecifiedMatching Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS:C1857069 semapv:UnspecifiedMatching @@ -24837,6 +28975,7 @@ Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615846 semapv:Un Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:619486 semapv:UnspecifiedMatching Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:619487 semapv:UnspecifiedMatching Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref UMLS:C0393591 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref icd11:5C55.2 semapv:UnspecifiedMatching Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10:E79.1 semapv:UnspecifiedMatching Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10:E79.1 semapv:UnspecifiedMatching Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 semapv:UnspecifiedMatching @@ -24846,13 +28985,17 @@ Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:308950 semapv:Unspecif Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS:C0023374 semapv:UnspecifiedMatching Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref icd11:5C55.01 semapv:UnspecifiedMatching Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609620 semapv:UnspecifiedMatching Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609621 semapv:UnspecifiedMatching Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609622 semapv:UnspecifiedMatching Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:620231 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref icd11:BC65.2 semapv:UnspecifiedMatching +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref OMIM:613600 semapv:UnspecifiedMatching Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref UMLS:C3150851 semapv:UnspecifiedMatching +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref icd11:BC71.01 semapv:UnspecifiedMatching Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching @@ -24868,6 +29011,7 @@ Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref OMIM:602473 semapv Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS:C1865349 semapv:UnspecifiedMatching Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MedDRA:10067609 semapv:UnspecifiedMatching Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:156310 semapv:UnspecifiedMatching @@ -24876,15 +29020,21 @@ Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv: Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C0023522 semapv:UnspecifiedMatching Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching +Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref UMLS:C1512709 semapv:UnspecifiedMatching +Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref icd11:2A90.2 semapv:UnspecifiedMatching Orphanet:512034 Large granular lymphocyte leukemia oboInOwl:hasDbXref MESH:D054066 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref UMLS:C0268609 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref icd11:3A02.Y semapv:UnspecifiedMatching Orphanet:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C5437635 semapv:UnspecifiedMatching +Orphanet:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching +Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref OMIM:620208 semapv:UnspecifiedMatching Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref UMLS:C5567894 semapv:UnspecifiedMatching @@ -24904,43 +29054,54 @@ Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphis Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617616 semapv:UnspecifiedMatching Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4539927 semapv:UnspecifiedMatching Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching +Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref UMLS:C3831784 semapv:UnspecifiedMatching +Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref icd11:2A60.34 semapv:UnspecifiedMatching Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C5680208 semapv:UnspecifiedMatching Orphanet:514980 ATP13A2-related parkinsonism oboInOwl:hasDbXref UMLS:C5681397 semapv:UnspecifiedMatching Orphanet:51577 Cobblestone lissencephaly oboInOwl:hasDbXref MESH:D054222 semapv:UnspecifiedMatching Orphanet:51577 Cobblestone lissencephaly oboInOwl:hasDbXref UMLS:C0431376 semapv:UnspecifiedMatching +Orphanet:51577 Cobblestone lissencephaly oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref UMLS:C1859727 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref icd11:BD52.Y semapv:UnspecifiedMatching +Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching +Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref icd11:4A00.Y semapv:UnspecifiedMatching +Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015479 semapv:UnspecifiedMatching Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10000890 semapv:UnspecifiedMatching Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023479 semapv:UnspecifiedMatching +Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref icd11:2A60.33 semapv:UnspecifiedMatching Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref MESH:D007947 semapv:UnspecifiedMatching Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref MedDRA:10000860 semapv:UnspecifiedMatching Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref UMLS:C0023462 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref icd11:2A60.36 semapv:UnspecifiedMatching Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref icd11:XH4750 semapv:UnspecifiedMatching Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G58.0 semapv:UnspecifiedMatching Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G58.0 semapv:UnspecifiedMatching Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref UMLS:C0393899 semapv:UnspecifiedMatching +Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref icd11:8E43.Y semapv:UnspecifiedMatching Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref MedDRA:10000880 semapv:UnspecifiedMatching Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref UMLS:C0023467 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref icd11:2A60 semapv:UnspecifiedMatching Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system oboInOwl:hasDbXref UMLS:C5681386 semapv:UnspecifiedMatching Orphanet:519266 Rare disorder of the ocular adnexa oboInOwl:hasDbXref UMLS:C5681387 semapv:UnspecifiedMatching Orphanet:519268 Rare disorder with ectropion oboInOwl:hasDbXref UMLS:C5681384 semapv:UnspecifiedMatching @@ -24988,10 +29149,13 @@ Orphanet:519351 Rare optic nerve disorder oboInOwl:hasDbXref UMLS:C5681355 semap Orphanet:519353 Rare trochlear nerve disorder oboInOwl:hasDbXref UMLS:C5681356 semapv:UnspecifiedMatching Orphanet:519355 Rare ocular motility/alignment disorder oboInOwl:hasDbXref UMLS:C5681357 semapv:UnspecifiedMatching Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref ICD10:Q11.0 semapv:UnspecifiedMatching +Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref ICD10:Q11.0 semapv:UnspecifiedMatching Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref UMLS:C5680174 semapv:UnspecifiedMatching Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref icd11:LA10.Y semapv:UnspecifiedMatching Orphanet:519386 Isolated congenital entropion oboInOwl:hasDbXref ICD10:Q10.2 semapv:UnspecifiedMatching +Orphanet:519386 Isolated congenital entropion oboInOwl:hasDbXref ICD10:Q10.2 semapv:UnspecifiedMatching Orphanet:519386 Isolated congenital entropion oboInOwl:hasDbXref UMLS:C5681344 semapv:UnspecifiedMatching +Orphanet:519386 Isolated congenital entropion oboInOwl:hasDbXref icd11:LA14.02 semapv:UnspecifiedMatching Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching @@ -24999,20 +29163,28 @@ Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXr Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref ICD10:H02.3 semapv:UnspecifiedMatching Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref ICD10:H02.3 semapv:UnspecifiedMatching Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref UMLS:C5681341 semapv:UnspecifiedMatching +Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref icd11:9A06.8 semapv:UnspecifiedMatching Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref UMLS:C5681340 semapv:UnspecifiedMatching +Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref icd11:LA11.61 semapv:UnspecifiedMatching +Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref ICD10:Q12.4 semapv:UnspecifiedMatching Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref ICD10:Q12.4 semapv:UnspecifiedMatching Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref UMLS:C5681342 semapv:UnspecifiedMatching Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref icd11:LA12.3 semapv:UnspecifiedMatching Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref MESH:C565005 semapv:UnspecifiedMatching Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref UMLS:C1850993 semapv:UnspecifiedMatching Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref UMLS:C5681346 semapv:UnspecifiedMatching Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref icd11:LA13.7Y semapv:UnspecifiedMatching Orphanet:519402 Isolated megalopapilla oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:519402 Isolated megalopapilla oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:519402 Isolated megalopapilla oboInOwl:hasDbXref UMLS:C5681347 semapv:UnspecifiedMatching +Orphanet:519402 Isolated megalopapilla oboInOwl:hasDbXref icd11:LA13.74 semapv:UnspecifiedMatching +Orphanet:519404 Optic disc pit oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:519404 Optic disc pit oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:519404 Optic disc pit oboInOwl:hasDbXref MedDRA:10079967 semapv:UnspecifiedMatching Orphanet:519404 Optic disc pit oboInOwl:hasDbXref UMLS:C0338504 semapv:UnspecifiedMatching @@ -25020,14 +29192,19 @@ Orphanet:519404 Optic disc pit oboInOwl:hasDbXref icd11:LA13.7Y semapv:Unspecifi Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref ICD10:H16.1 semapv:UnspecifiedMatching Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref ICD10:H16.1 semapv:UnspecifiedMatching Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref UMLS:C4551636 semapv:UnspecifiedMatching +Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref icd11:9A78.Z semapv:UnspecifiedMatching Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref ICD10:H16.0 semapv:UnspecifiedMatching Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref ICD10:H16.0 semapv:UnspecifiedMatching Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref UMLS:C0155072 semapv:UnspecifiedMatching +Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref icd11:9A76 semapv:UnspecifiedMatching +Orphanet:519410 Terrien marginal degeneration oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching Orphanet:519410 Terrien marginal degeneration oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching Orphanet:519410 Terrien marginal degeneration oboInOwl:hasDbXref UMLS:C0271283 semapv:UnspecifiedMatching Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref MedDRA:10062353 semapv:UnspecifiedMatching Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref UMLS:C1262117 semapv:UnspecifiedMatching +Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref icd11:9A71 semapv:UnspecifiedMatching Orphanet:52 Alagille syndrome oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:52 Alagille syndrome oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:52 Alagille syndrome oboInOwl:hasDbXref MESH:D016738 semapv:UnspecifiedMatching @@ -25035,6 +29212,7 @@ Orphanet:52 Alagille syndrome oboInOwl:hasDbXref MedDRA:10053870 semapv:Unspecif Orphanet:52 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching Orphanet:52 Alagille syndrome oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching Orphanet:52 Alagille syndrome oboInOwl:hasDbXref UMLS:C0085280 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref icd11:LB20.0Y semapv:UnspecifiedMatching Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref ICD10:C92.4 semapv:UnspecifiedMatching Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref ICD10:C92.4 semapv:UnspecifiedMatching Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MESH:D015473 semapv:UnspecifiedMatching @@ -25048,6 +29226,7 @@ Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:Un Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:UnspecifiedMatching Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS:C1832588 semapv:UnspecifiedMatching +Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref icd11:LD44.B1 semapv:UnspecifiedMatching Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref OMIM:608406 semapv:UnspecifiedMatching @@ -25061,27 +29240,34 @@ Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-microgn Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref OMIM:300472 semapv:UnspecifiedMatching Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref UMLS:C4302679 semapv:UnspecifiedMatching Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref OMIM:608571 semapv:UnspecifiedMatching Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref UMLS:C4304397 semapv:UnspecifiedMatching Orphanet:520814 Rare disorder of the visual organs oboInOwl:hasDbXref UMLS:C5681453 semapv:UnspecifiedMatching Orphanet:520817 Isolated inherited retinal disorder oboInOwl:hasDbXref UMLS:C5681452 semapv:UnspecifiedMatching Orphanet:520820 Progressive external ophthalmoplegia oboInOwl:hasDbXref MedDRA:10036802 semapv:UnspecifiedMatching +Orphanet:520820 Progressive external ophthalmoplegia oboInOwl:hasDbXref icd11:9C82.0 semapv:UnspecifiedMatching Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.1 semapv:UnspecifiedMatching Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.1 semapv:UnspecifiedMatching Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10009013 semapv:UnspecifiedMatching Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0023473 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref icd11:2B33.2 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref icd11:XH4XG8 semapv:UnspecifiedMatching +Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref UMLS:C5681446 semapv:UnspecifiedMatching Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref icd11:8B91.Y semapv:UnspecifiedMatching Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref UMLS:C1290728 semapv:UnspecifiedMatching +Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref icd11:DA06.0 semapv:UnspecifiedMatching Orphanet:521132 Radiation-induced disorder oboInOwl:hasDbXref UMLS:C1527225 semapv:UnspecifiedMatching Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref MESH:D057792 semapv:UnspecifiedMatching Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref UMLS:C0267878 semapv:UnspecifiedMatching +Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref icd11:DC11.Y semapv:UnspecifiedMatching Orphanet:521232 Genetic primary orthostatic disorder oboInOwl:hasDbXref UMLS:C5681448 semapv:UnspecifiedMatching Orphanet:521236 Primary orthostatic disorder oboInOwl:hasDbXref UMLS:C5681449 semapv:UnspecifiedMatching Orphanet:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching @@ -25101,13 +29287,16 @@ Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syn Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref OMIM:617296 semapv:UnspecifiedMatching Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref UMLS:C4284592 semapv:UnspecifiedMatching Orphanet:521399 NON RARE IN EUROPE: Non rare obesity oboInOwl:hasDbXref ICD10:E66.0 semapv:UnspecifiedMatching +Orphanet:521399 NON RARE IN EUROPE: Non rare obesity oboInOwl:hasDbXref ICD10:E66.0 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:617013 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref UMLS:C4310765 semapv:UnspecifiedMatching Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref UMLS:C5569051 semapv:UnspecifiedMatching Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref OMIM:618036 semapv:UnspecifiedMatching Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref UMLS:C4747974 semapv:UnspecifiedMatching Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -25115,6 +29304,7 @@ Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref I Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref OMIM:617527 semapv:UnspecifiedMatching Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref UMLS:C4479631 semapv:UnspecifiedMatching Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5681444 semapv:UnspecifiedMatching Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -25126,8 +29316,10 @@ Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congen Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C5681443 semapv:UnspecifiedMatching Orphanet:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching +Orphanet:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching Orphanet:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref UMLS:C5681442 semapv:UnspecifiedMatching Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref UMLS:C5681441 semapv:UnspecifiedMatching @@ -25180,12 +29372,14 @@ Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref MESH:C535516 semapv:UnspecifiedMatching Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref OMIM:150800 semapv:UnspecifiedMatching Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref UMLS:C1708350 semapv:UnspecifiedMatching +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching Orphanet:523000 Pediatric-onset glaucoma oboInOwl:hasDbXref UMLS:C5681400 semapv:UnspecifiedMatching Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref MESH:C535808 semapv:UnspecifiedMatching Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref UMLS:C0796074 semapv:UnspecifiedMatching +Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref icd11:8A02.12 semapv:UnspecifiedMatching Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref ICD10:C97 semapv:UnspecifiedMatching Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref ICD10:C97 semapv:UnspecifiedMatching Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 semapv:UnspecifiedMatching @@ -25193,11 +29387,14 @@ Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MedDRA:10066795 semapv:Unsp Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:151623 semapv:UnspecifiedMatching Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:609265 semapv:UnspecifiedMatching Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS:C0085390 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref icd11:2B51.Y semapv:UnspecifiedMatching Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref ICD10:C83.1 semapv:UnspecifiedMatching Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref ICD10:C83.1 semapv:UnspecifiedMatching Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref MESH:D020522 semapv:UnspecifiedMatching Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref MedDRA:10061275 semapv:UnspecifiedMatching Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref UMLS:C4721414 semapv:UnspecifiedMatching +Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref icd11:2A85.5 semapv:UnspecifiedMatching +Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref ICD10:C88.4 semapv:UnspecifiedMatching Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref ICD10:C88.4 semapv:UnspecifiedMatching Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref MedDRA:10060707 semapv:UnspecifiedMatching Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref OMIM:137245 semapv:UnspecifiedMatching @@ -25206,6 +29403,8 @@ Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 semap Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref UMLS:C1405854 semapv:UnspecifiedMatching +Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1847759 semapv:UnspecifiedMatching @@ -25224,26 +29423,31 @@ Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemp Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615422 semapv:UnspecifiedMatching Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615424 semapv:UnspecifiedMatching Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref UMLS:C1833662 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref icd11:4A41.21 semapv:UnspecifiedMatching Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref MESH:C535892 semapv:UnspecifiedMatching Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref MedDRA:10081142 semapv:UnspecifiedMatching Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref UMLS:C0023645 semapv:UnspecifiedMatching +Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref icd11:EA91.2 semapv:UnspecifiedMatching Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref MESH:C535598 semapv:UnspecifiedMatching Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref OMIM:300352 semapv:UnspecifiedMatching Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref UMLS:C1845862 semapv:UnspecifiedMatching +Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref icd11:5C53.4 semapv:UnspecifiedMatching Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref MESH:C536458 semapv:UnspecifiedMatching Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref OMIM:177820 semapv:UnspecifiedMatching Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref UMLS:C1280798 semapv:UnspecifiedMatching +Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:525677 Genetic congenital malformation of the eye with glaucoma as a major feature oboInOwl:hasDbXref UMLS:C5681398 semapv:UnspecifiedMatching Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref ICD10:E05.0 semapv:UnspecifiedMatching Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref ICD10:E05.0 semapv:UnspecifiedMatching Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref UMLS:C5680179 semapv:UnspecifiedMatching Orphanet:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching +Orphanet:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching Orphanet:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref UMLS:C5568567 semapv:UnspecifiedMatching Orphanet:526 Liddle syndrome oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching Orphanet:526 Liddle syndrome oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching @@ -25264,6 +29468,8 @@ Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defe Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:614388 semapv:UnspecifiedMatching Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref UMLS:C5681458 semapv:UnspecifiedMatching +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref icd11:5C5Y semapv:UnspecifiedMatching +Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref OMIM:617662 semapv:UnspecifiedMatching Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref UMLS:C4540020 semapv:UnspecifiedMatching @@ -25271,6 +29477,7 @@ Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasD Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref UMLS:C5681454 semapv:UnspecifiedMatching Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:617560 semapv:UnspecifiedMatching Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C4479653 semapv:UnspecifiedMatching Orphanet:52759 Vasculitis oboInOwl:hasDbXref MESH:D014657 semapv:UnspecifiedMatching @@ -25278,6 +29485,7 @@ Orphanet:52759 Vasculitis oboInOwl:hasDbXref MedDRA:10047115 semapv:UnspecifiedM Orphanet:52759 Vasculitis oboInOwl:hasDbXref UMLS:C0042384 semapv:UnspecifiedMatching Orphanet:52759 Vasculitis oboInOwl:hasDbXref icd11:4A44 semapv:UnspecifiedMatching Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref MESH:D052497 semapv:UnspecifiedMatching Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref MedDRA:10024603 semapv:UnspecifiedMatching Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:269700 semapv:UnspecifiedMatching @@ -25340,11 +29548,15 @@ Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ic Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref OMIM:617671 semapv:UnspecifiedMatching Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref UMLS:C4522164 semapv:UnspecifiedMatching Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref UMLS:C4552294 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref UMLS:C1960459 semapv:UnspecifiedMatching +Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:528663 Acquired angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:528663 Acquired angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref UMLS:C4274284 semapv:UnspecifiedMatching Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching @@ -25352,6 +29564,8 @@ Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXr Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref MESH:C537070 semapv:UnspecifiedMatching Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref OMIM:229070 semapv:UnspecifiedMatching Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C1856716 semapv:UnspecifiedMatching +Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching Orphanet:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching Orphanet:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref UMLS:C4267893 semapv:UnspecifiedMatching Orphanet:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching @@ -25369,19 +29583,24 @@ Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C5575229 semapv:UnspecifiedMatching Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref UMLS:C5681461 semapv:UnspecifiedMatching Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0221287 semapv:UnspecifiedMatching Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref icd11:2C12.00 semapv:UnspecifiedMatching Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref UMLS:C0543820 semapv:UnspecifiedMatching +Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref icd11:EG00 semapv:UnspecifiedMatching Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref ICD10:D31.6 semapv:UnspecifiedMatching Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref ICD10:D31.6 semapv:UnspecifiedMatching Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref UMLS:C4305000 semapv:UnspecifiedMatching +Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref icd11:2F36.Y semapv:UnspecifiedMatching Orphanet:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5680185 semapv:UnspecifiedMatching @@ -25402,13 +29621,16 @@ Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections sy Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome oboInOwl:hasDbXref UMLS:C5568532 semapv:UnspecifiedMatching Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref OMIM:166600 semapv:UnspecifiedMatching Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref UMLS:C3179239 semapv:UnspecifiedMatching +Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref MESH:D008065 semapv:UnspecifiedMatching Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref OMIM:247100 semapv:UnspecifiedMatching Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref UMLS:C0023795 semapv:UnspecifiedMatching +Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref UMLS:C5680190 semapv:UnspecifiedMatching @@ -25421,14 +29643,17 @@ Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl: Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C5680143 semapv:UnspecifiedMatching Orphanet:530313 PIK3CA-related overgrowth syndrome oboInOwl:hasDbXref MedDRA:10081236 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref MedDRA:10013003 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref OMIM:600643 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref icd11:LB20.00 semapv:UnspecifiedMatching Orphanet:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching +Orphanet:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching Orphanet:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref UMLS:C4289581 semapv:UnspecifiedMatching Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref UMLS:C5680142 semapv:UnspecifiedMatching Orphanet:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching @@ -25443,12 +29668,14 @@ Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref ICD10:C95.0 se Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref UMLS:C2826025 semapv:UnspecifiedMatching +Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref icd11:2A61 semapv:UnspecifiedMatching Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref MedDRA:10068361 semapv:UnspecifiedMatching Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref OMIM:247200 semapv:UnspecifiedMatching Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref UMLS:C0265219 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5681312 semapv:UnspecifiedMatching @@ -25458,6 +29685,7 @@ Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref MESH:C537369 semapv:Unspecifie Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref MedDRA:10088781 semapv:UnspecifiedMatching Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref UMLS:C1864436 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref ICD10:L94.8 semapv:UnspecifiedMatching Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref ICD10:L94.8 semapv:UnspecifiedMatching Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref MESH:C562925 semapv:UnspecifiedMatching @@ -25467,6 +29695,8 @@ Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref icd11:LC2Y sema Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.0 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.0 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.1 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.1 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.7 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.7 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.8 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.8 semapv:UnspecifiedMatching @@ -25475,6 +29705,9 @@ Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.9 semapv:UnspecifiedMatchi Orphanet:533 Listeriosis oboInOwl:hasDbXref MESH:D008088 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref MedDRA:10024641 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref UMLS:C0023860 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref icd11:1C1A semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref icd11:1C1A.0 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref icd11:1C1A.1 semapv:UnspecifiedMatching Orphanet:533 Listeriosis oboInOwl:hasDbXref icd11:1C1A.Y semapv:UnspecifiedMatching Orphanet:53347 Brody myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:53347 Brody myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching @@ -25487,6 +29720,7 @@ Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 sem Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref MESH:C564048 semapv:UnspecifiedMatching Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref OMIM:314250 semapv:UnspecifiedMatching Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1839130 semapv:UnspecifiedMatching +Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref icd11:8A00.20 semapv:UnspecifiedMatching Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref MESH:C537682 semapv:UnspecifiedMatching @@ -25498,6 +29732,7 @@ Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MESH:D009800 Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MedDRA:10051707 semapv:UnspecifiedMatching Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref UMLS:C0028860 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref icd11:5C60.0 semapv:UnspecifiedMatching Orphanet:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10056509 semapv:UnspecifiedMatching Orphanet:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C5680424 semapv:UnspecifiedMatching Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -25505,6 +29740,7 @@ Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:Uns Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref MESH:C564835 semapv:UnspecifiedMatching Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref OMIM:268100 semapv:UnspecifiedMatching Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref UMLS:C0339541 semapv:UnspecifiedMatching +Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref OMIM:246650 semapv:UnspecifiedMatching @@ -25512,6 +29748,7 @@ Orphanet:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semap Orphanet:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref MESH:C563401 semapv:UnspecifiedMatching Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref UMLS:C1832855 semapv:UnspecifiedMatching @@ -25521,6 +29758,8 @@ Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv: Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 semapv:UnspecifiedMatching Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref MedDRA:10042945 semapv:UnspecifiedMatching @@ -25532,16 +29771,19 @@ Orphanet:536391 RASopathy oboInOwl:hasDbXref UMLS:C5555857 semapv:UnspecifiedMat Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching +Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130070 semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:612350 semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5680154 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:616471 semapv:UnspecifiedMatching Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5680153 semapv:UnspecifiedMatching +Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref OMIM:618000 semapv:UnspecifiedMatching @@ -25550,11 +29792,14 @@ Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536198 semapv:UnspecifiedMatching Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C4551497 semapv:UnspecifiedMatching +Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref MESH:C536210 semapv:UnspecifiedMatching Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref OMIM:214700 semapv:UnspecifiedMatching Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref UMLS:C0267662 semapv:UnspecifiedMatching +Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref icd11:DA90.1 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref ICD10:E73.0 semapv:UnspecifiedMatching Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref ICD10:E73.0 semapv:UnspecifiedMatching Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref MESH:C562600 semapv:UnspecifiedMatching Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref MedDRA:10086148 semapv:UnspecifiedMatching @@ -25562,8 +29807,10 @@ Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 sema Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref UMLS:C0268179 semapv:UnspecifiedMatching Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref icd11:5C61.61 semapv:UnspecifiedMatching Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching +Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:121400 semapv:UnspecifiedMatching Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:217300 semapv:UnspecifiedMatching +Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref icd11:LA11.1 semapv:UnspecifiedMatching Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 semapv:UnspecifiedMatching @@ -25577,10 +29824,12 @@ Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDb Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref UMLS:C2678471 semapv:UnspecifiedMatching Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:166260 semapv:UnspecifiedMatching Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1833736 semapv:UnspecifiedMatching Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref UMLS:C5681316 semapv:UnspecifiedMatching @@ -25589,24 +29838,29 @@ Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref ICD10:L51.2 semapv:Un Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref MedDRA:10044223 semapv:UnspecifiedMatching Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref UMLS:C0014518 semapv:UnspecifiedMatching +Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref icd11:EB13.1 semapv:UnspecifiedMatching Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref UMLS:C5680155 semapv:UnspecifiedMatching +Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref MedDRA:10059364 semapv:UnspecifiedMatching Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref UMLS:C0263628 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref icd11:5C64.5 semapv:UnspecifiedMatching Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MESH:C536752 semapv:UnspecifiedMatching Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MedDRA:10048661 semapv:UnspecifiedMatching Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref UMLS:C0265321 semapv:UnspecifiedMatching +Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref MedDRA:10068841 semapv:UnspecifiedMatching Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref UMLS:C0346068 semapv:UnspecifiedMatching +Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:53739 Distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C0393541 semapv:UnspecifiedMatching Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching @@ -25614,14 +29868,18 @@ Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MESH:D018192 semapv:Uns Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MedDRA:10049459 semapv:UnspecifiedMatching Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS:C0751674 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref icd11:CB07 semapv:UnspecifiedMatching +Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref MESH:C565773 semapv:UnspecifiedMatching Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref OMIM:604431 semapv:UnspecifiedMatching Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref UMLS:C1858353 semapv:UnspecifiedMatching Orphanet:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref UMLS:C5681314 semapv:UnspecifiedMatching Orphanet:538238 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect oboInOwl:hasDbXref UMLS:C5681315 semapv:UnspecifiedMatching Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:148360 semapv:UnspecifiedMatching Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref UMLS:C1835671 semapv:UnspecifiedMatching Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching @@ -25645,24 +29903,31 @@ Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 sem Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C5680158 semapv:UnspecifiedMatching Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref UMLS:C5399825 semapv:UnspecifiedMatching Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref MESH:C564469 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref UMLS:C1845076 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref OMIM:618261 semapv:UnspecifiedMatching Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref UMLS:C5568559 semapv:UnspecifiedMatching Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref OMIM:613011 semapv:UnspecifiedMatching Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref UMLS:C3552634 semapv:UnspecifiedMatching Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref MESH:C537863 semapv:UnspecifiedMatching Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref OMIM:300500 semapv:UnspecifiedMatching Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref UMLS:C0342684 semapv:UnspecifiedMatching +Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref icd11:9E1Y semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MedDRA:10070904 semapv:UnspecifiedMatching Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:267700 semapv:UnspecifiedMatching @@ -25678,14 +29943,19 @@ Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref ICD10:D50.1 semapv:Uns Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MESH:D011004 semapv:UnspecifiedMatching Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MedDRA:10040664 semapv:UnspecifiedMatching Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref UMLS:C0032249 semapv:UnspecifiedMatching +Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref icd11:3A00.Y semapv:UnspecifiedMatching Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MedDRA:10043648 semapv:UnspecifiedMatching Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0034155 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref icd11:3B64.14 semapv:UnspecifiedMatching +Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref UMLS:C5679826 semapv:UnspecifiedMatching +Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref icd11:2B03 semapv:UnspecifiedMatching +Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref OMIM:617093 semapv:UnspecifiedMatching Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref UMLS:C5568558 semapv:UnspecifiedMatching @@ -25699,15 +29969,19 @@ Orphanet:541478 Anomalous aortic origin of coronary artery oboInOwl:hasDbXref UM Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref UMLS:C4023252 semapv:UnspecifiedMatching +Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref icd11:LA8C.0 semapv:UnspecifiedMatching Orphanet:542 Primary cutaneous lymphoma oboInOwl:hasDbXref MedDRA:10051708 semapv:UnspecifiedMatching Orphanet:542 Primary cutaneous lymphoma oboInOwl:hasDbXref UMLS:C1302772 semapv:UnspecifiedMatching Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref UMLS:C5568557 semapv:UnspecifiedMatching Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref OMIM:617173 semapv:UnspecifiedMatching Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref UMLS:C5568877 semapv:UnspecifiedMatching Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref MESH:C000598644 semapv:UnspecifiedMatching Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref MedDRA:10084766 semapv:UnspecifiedMatching Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref OMIM:614561 semapv:UnspecifiedMatching @@ -25716,8 +29990,11 @@ Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref UMLS:C5680162 semapv:UnspecifiedMatching Orphanet:54238 Myotonic dystrophy type 3 oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:54238 Myotonic dystrophy type 3 oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 semapv:UnspecifiedMatching Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 semapv:UnspecifiedMatching Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref UMLS:C4275079 semapv:UnspecifiedMatching +Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref icd11:8A21.0 semapv:UnspecifiedMatching Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref UMLS:C4303863 semapv:UnspecifiedMatching @@ -25730,6 +30007,7 @@ Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref IC Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617717 semapv:UnspecifiedMatching Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref UMLS:C4521678 semapv:UnspecifiedMatching Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref ICD10:L92.1 semapv:UnspecifiedMatching +Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref ICD10:L92.1 semapv:UnspecifiedMatching Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref MESH:D009335 semapv:UnspecifiedMatching Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref UMLS:C0027538 semapv:UnspecifiedMatching Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref icd11:EE80.1 semapv:UnspecifiedMatching @@ -25753,6 +30031,7 @@ Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref MESH:D000090122 semapv: Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref UMLS:C0343081 semapv:UnspecifiedMatching Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref icd11:EF50 semapv:UnspecifiedMatching Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref UMLS:C1840437 semapv:UnspecifiedMatching Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching @@ -25760,14 +30039,18 @@ Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref ICD10:D13.4 semapv:Unsp Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref MESH:D018248 semapv:UnspecifiedMatching Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref MedDRA:10019827 semapv:UnspecifiedMatching Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref UMLS:C0206669 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref icd11:2E92.7 semapv:UnspecifiedMatching Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref icd11:XH68V1 semapv:UnspecifiedMatching Orphanet:542822 Anomaly of the coronary ostia oboInOwl:hasDbXref UMLS:C5681322 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C83.7 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C83.7 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C91.8 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C91.8 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10006595 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0006413 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref icd11:2A85.6 semapv:UnspecifiedMatching Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref icd11:XH4KA9 semapv:UnspecifiedMatching Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -25779,6 +30062,7 @@ Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref MedDRA:10039483 semapv:Unspecifi Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref UMLS:C0036231 semapv:UnspecifiedMatching Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref icd11:1A34 semapv:UnspecifiedMatching Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MedDRA:10018370 semapv:UnspecifiedMatching Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching @@ -25786,10 +30070,14 @@ Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXr Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0017662 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref icd11:MF8Y semapv:UnspecifiedMatching +Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MESH:D016403 semapv:UnspecifiedMatching Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10012818 semapv:UnspecifiedMatching Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref UMLS:C0079744 semapv:UnspecifiedMatching +Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref icd11:2A81 semapv:UnspecifiedMatching +Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5680163 semapv:UnspecifiedMatching Orphanet:544458 Hemolytic uremic syndrome oboInOwl:hasDbXref MESH:D006463 semapv:UnspecifiedMatching @@ -25812,6 +30100,8 @@ Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormal Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C5680165 semapv:UnspecifiedMatching +Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref icd11:3A21.Y semapv:UnspecifiedMatching +Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref OMIM:619075 semapv:UnspecifiedMatching Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref UMLS:C5436741 semapv:UnspecifiedMatching @@ -25819,6 +30109,7 @@ Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome ob Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C5680164 semapv:UnspecifiedMatching Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618379 semapv:UnspecifiedMatching Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5193065 semapv:UnspecifiedMatching Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching @@ -25826,6 +30117,7 @@ Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form obo Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form oboInOwl:hasDbXref UMLS:C5681326 semapv:UnspecifiedMatching Orphanet:544590 Collagen-related glomerular basement membrane disease oboInOwl:hasDbXref UMLS:C5681325 semapv:UnspecifiedMatching Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref OMIM:618414 semapv:UnspecifiedMatching Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref UMLS:C5193081 semapv:UnspecifiedMatching Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching @@ -25841,18 +30133,26 @@ Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.2 semapv:Unspecifi Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.3 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.3 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.4 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.4 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.5 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.5 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.7 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.7 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.9 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.9 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MESH:D008224 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MedDRA:10085128 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref OMIM:613024 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref UMLS:C0024301 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.0 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.1 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.2 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.4 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.5 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.6 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.Y semapv:UnspecifiedMatching Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref ICD10:D44.4 semapv:UnspecifiedMatching Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref ICD10:D44.4 semapv:UnspecifiedMatching Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching @@ -25869,9 +30169,14 @@ Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.1 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.2 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.2 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.3 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.3 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.4 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.4 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.5 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.5 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.8 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.8 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.9 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.9 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref MESH:D007918 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref MedDRA:10024229 semapv:UnspecifiedMatching @@ -25884,6 +30189,10 @@ Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref UMLS:C0023343 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20 semapv:UnspecifiedMatching Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20.0 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20.1 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20.2 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20.3 semapv:UnspecifiedMatching +Orphanet:549 Legionnaires disease oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching Orphanet:549 Legionnaires disease oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MESH:D007877 semapv:UnspecifiedMatching Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MedDRA:10035718 semapv:UnspecifiedMatching @@ -25893,15 +30202,19 @@ Orphanet:55 Oculocutaneous albinism oboInOwl:hasDbXref MESH:D016115 semapv:Unspe Orphanet:55 Oculocutaneous albinism oboInOwl:hasDbXref UMLS:C0078918 semapv:UnspecifiedMatching Orphanet:55 Oculocutaneous albinism oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:550 MELAS oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:550 MELAS oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching Orphanet:550 MELAS oboInOwl:hasDbXref MedDRA:10053872 semapv:UnspecifiedMatching Orphanet:550 MELAS oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching Orphanet:550 MELAS oboInOwl:hasDbXref UMLS:C0162671 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:551 MERRF oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:551 MERRF oboInOwl:hasDbXref MESH:D017243 semapv:UnspecifiedMatching Orphanet:551 MERRF oboInOwl:hasDbXref MedDRA:10069825 semapv:UnspecifiedMatching Orphanet:551 MERRF oboInOwl:hasDbXref OMIM:545000 semapv:UnspecifiedMatching Orphanet:551 MERRF oboInOwl:hasDbXref UMLS:C0162672 semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching Orphanet:552 MODY oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:552 MODY oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:552 MODY oboInOwl:hasDbXref MESH:C562772 semapv:UnspecifiedMatching @@ -25919,6 +30232,8 @@ Orphanet:552 MODY oboInOwl:hasDbXref OMIM:613375 semapv:UnspecifiedMatching Orphanet:552 MODY oboInOwl:hasDbXref OMIM:616329 semapv:UnspecifiedMatching Orphanet:552 MODY oboInOwl:hasDbXref OMIM:616511 semapv:UnspecifiedMatching Orphanet:552 MODY oboInOwl:hasDbXref UMLS:C0342276 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref icd11:5A13.6 semapv:UnspecifiedMatching +Orphanet:555 NON RARE IN EUROPE: Celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching Orphanet:555 NON RARE IN EUROPE: Celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching Orphanet:555 NON RARE IN EUROPE: Celiac disease oboInOwl:hasDbXref MedDRA:10009839 semapv:UnspecifiedMatching Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -25930,8 +30245,10 @@ Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref ICD10:E88.8 sem Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref OMIM:617186 semapv:UnspecifiedMatching Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref UMLS:C4310675 semapv:UnspecifiedMatching Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching +Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref UMLS:C5681328 semapv:UnspecifiedMatching Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching +Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref UMLS:C5680170 semapv:UnspecifiedMatching Orphanet:555874 Congenital tricuspid valve dysplasia oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching Orphanet:555874 Congenital tricuspid valve dysplasia oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching @@ -25941,11 +30258,16 @@ Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:has Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref UMLS:C0262436 semapv:UnspecifiedMatching Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref UMLS:C1274167 semapv:UnspecifiedMatching +Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref icd11:EB40.Y semapv:UnspecifiedMatching +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref MESH:C564242 semapv:UnspecifiedMatching Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref OMIM:608423 semapv:UnspecifiedMatching Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref UMLS:C1842062 semapv:UnspecifiedMatching +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref icd11:8C70.40 semapv:UnspecifiedMatching +Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref MESH:C563794 semapv:UnspecifiedMatching Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref OMIM:609115 semapv:UnspecifiedMatching @@ -25953,19 +30275,25 @@ Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbX Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N28.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N28.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref MESH:D008287 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref UMLS:C0024525 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref icd11:EL3Y semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref icd11:GC01.Y semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref icd11:GC0Y semapv:UnspecifiedMatching Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref UMLS:C5680171 semapv:UnspecifiedMatching +Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref icd11:5A73 semapv:UnspecifiedMatching Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref UMLS:C5680172 semapv:UnspecifiedMatching +Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref icd11:5A73 semapv:UnspecifiedMatching Orphanet:556508 Rare disorder due to poisoning oboInOwl:hasDbXref UMLS:C5681335 semapv:UnspecifiedMatching Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref MESH:C537160 semapv:UnspecifiedMatching Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:278150 semapv:UnspecifiedMatching Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:604379 semapv:UnspecifiedMatching @@ -25990,6 +30318,7 @@ Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXre Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref OMIM:618500 semapv:UnspecifiedMatching Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref UMLS:C5681334 semapv:UnspecifiedMatching Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref OMIM:618476 semapv:UnspecifiedMatching Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref UMLS:C5681333 semapv:UnspecifiedMatching Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref MESH:C537771 semapv:UnspecifiedMatching @@ -26012,6 +30341,7 @@ Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref UMLS:C5193030 semapv:UnspecifiedMatching Orphanet:557866 Rare disorder with Hirschsprung disease as a major feature oboInOwl:hasDbXref UMLS:C5681269 semapv:UnspecifiedMatching Orphanet:558 Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:558 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching Orphanet:558 Marfan syndrome oboInOwl:hasDbXref MedDRA:10026829 semapv:UnspecifiedMatching Orphanet:558 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching @@ -26019,7 +30349,10 @@ Orphanet:558 Marfan syndrome oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMa Orphanet:558 Marfan syndrome oboInOwl:hasDbXref UMLS:C0024796 semapv:UnspecifiedMatching Orphanet:558 Marfan syndrome oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref ICD10:K31.8 semapv:UnspecifiedMatching +Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref ICD10:K31.8 semapv:UnspecifiedMatching Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref UMLS:C0267171 semapv:UnspecifiedMatching +Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref icd11:DA41.00 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatching Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref MedDRA:10008734 semapv:UnspecifiedMatching @@ -26027,9 +30360,11 @@ Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedM Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref UMLS:C0008479 semapv:UnspecifiedMatching Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref icd11:2B50 semapv:UnspecifiedMatching Orphanet:55881 Adamantinoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching Orphanet:55881 Adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching Orphanet:55881 Adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching Orphanet:55881 Adamantinoma oboInOwl:hasDbXref UMLS:C0334556 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref icd11:2B5J semapv:UnspecifiedMatching Orphanet:55881 Adamantinoma oboInOwl:hasDbXref icd11:XH8F52 semapv:UnspecifiedMatching Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching @@ -26042,6 +30377,7 @@ Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatch Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MedDRA:10001689 semapv:UnspecifiedMatching Orphanet:56 Alkaptonuria oboInOwl:hasDbXref OMIM:203500 semapv:UnspecifiedMatching Orphanet:56 Alkaptonuria oboInOwl:hasDbXref UMLS:C0002066 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref icd11:5C50.10 semapv:UnspecifiedMatching Orphanet:560 Marshall syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:560 Marshall syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:560 Marshall syndrome oboInOwl:hasDbXref MESH:C536025 semapv:UnspecifiedMatching @@ -26051,15 +30387,19 @@ Orphanet:560 Marshall syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:Unspecifi Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref MedDRA:10007426 semapv:UnspecifiedMatching Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5566557 semapv:UnspecifiedMatching Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref MESH:C536026 semapv:UnspecifiedMatching Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref OMIM:602535 semapv:UnspecifiedMatching Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref UMLS:C0265211 semapv:UnspecifiedMatching +Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref UMLS:C3150705 semapv:UnspecifiedMatching Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching +Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref UMLS:C0242292 semapv:UnspecifiedMatching +Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref icd11:FB80.0 semapv:UnspecifiedMatching Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref MESH:C564200 semapv:UnspecifiedMatching @@ -26090,9 +30430,11 @@ Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref MedDRA:10049430 semapv Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref UMLS:C0877208 semapv:UnspecifiedMatching Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref icd11:JB44.3 semapv:UnspecifiedMatching Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching +Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref MESH:C535395 semapv:UnspecifiedMatching Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref OMIM:256050 semapv:UnspecifiedMatching Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref UMLS:C1850554 semapv:UnspecifiedMatching +Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref icd11:LD24.03 semapv:UnspecifiedMatching Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref MESH:C579928 semapv:UnspecifiedMatching @@ -26111,18 +30453,29 @@ Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref MedDRA:10002320 semapv:UnspecifiedMatching +Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref icd11:LA00.0 semapv:UnspecifiedMatching Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref icd11:LA00.0Y semapv:UnspecifiedMatching +Orphanet:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref OMIM:270420 semapv:UnspecifiedMatching @@ -26130,12 +30483,15 @@ Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C56 Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref MedDRA:10001501 semapv:UnspecifiedMatching +Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref icd11:LA31.1 semapv:UnspecifiedMatching Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref icd11:LA31.1 semapv:UnspecifiedMatching Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref ICD10:M92.6 semapv:UnspecifiedMatching Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref ICD10:M92.6 semapv:UnspecifiedMatching Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref UMLS:C0022765 semapv:UnspecifiedMatching Orphanet:564 Meckel syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:249000 semapv:UnspecifiedMatching Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:603194 semapv:UnspecifiedMatching @@ -26151,12 +30507,15 @@ Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:616258 semapv:UnspecifiedMa Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:617562 semapv:UnspecifiedMatching Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:619879 semapv:UnspecifiedMatching Orphanet:564 Meckel syndrome oboInOwl:hasDbXref UMLS:C0265215 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref icd11:LD2F.13 semapv:UnspecifiedMatching Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref ICD10:M92.7 semapv:UnspecifiedMatching Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref ICD10:M92.7 semapv:UnspecifiedMatching Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref MESH:C535636 semapv:UnspecifiedMatching Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref UMLS:C0264099 semapv:UnspecifiedMatching +Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:564127 Genetic nephrotic syndrome oboInOwl:hasDbXref UMLS:C5680119 semapv:UnspecifiedMatching Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618314 semapv:UnspecifiedMatching Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5681271 semapv:UnspecifiedMatching Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching @@ -26177,6 +30536,8 @@ Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDb Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref OMIM:618397 semapv:UnspecifiedMatching Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref UMLS:C5193075 semapv:UnspecifiedMatching +Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching +Orphanet:565641 Primary desmosis coli oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:565641 Primary desmosis coli oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:565641 Primary desmosis coli oboInOwl:hasDbXref UMLS:C5680125 semapv:UnspecifiedMatching Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation oboInOwl:hasDbXref UMLS:C5681283 semapv:UnspecifiedMatching @@ -26188,6 +30549,7 @@ Orphanet:565788 Infantile inflammatory bowel disease with neurological involveme Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref OMIM:618213 semapv:UnspecifiedMatching Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref UMLS:C5568565 semapv:UnspecifiedMatching Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref OMIM:618138 semapv:UnspecifiedMatching Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref UMLS:C5680122 semapv:UnspecifiedMatching Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -26195,9 +30557,11 @@ Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disabilit Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref OMIM:618265 semapv:UnspecifiedMatching Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4748872 semapv:UnspecifiedMatching Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref OMIM:618135 semapv:UnspecifiedMatching Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref UMLS:C5680123 semapv:UnspecifiedMatching Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref OMIM:618129 semapv:UnspecifiedMatching Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref UMLS:C4748295 semapv:UnspecifiedMatching Orphanet:566 Congenital microcoria oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching @@ -26210,6 +30574,7 @@ Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dy Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref UMLS:C5568564 semapv:UnspecifiedMatching Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref MedDRA:10085728 semapv:UnspecifiedMatching Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref OMIM:226300 semapv:UnspecifiedMatching Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref UMLS:C4538570 semapv:UnspecifiedMatching @@ -26218,15 +30583,19 @@ Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia o Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref UMLS:C5680129 semapv:UnspecifiedMatching Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref UMLS:C5680127 semapv:UnspecifiedMatching Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching +Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref UMLS:C5680128 semapv:UnspecifiedMatching Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref icd11:2A21.00 semapv:UnspecifiedMatching Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching +Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref UMLS:C5680130 semapv:UnspecifiedMatching Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref icd11:2A21.00 semapv:UnspecifiedMatching Orphanet:566841 Liver adenomatosis oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching @@ -26235,14 +30604,20 @@ Orphanet:566841 Liver adenomatosis oboInOwl:hasDbXref UMLS:C5680136 semapv:Unspe Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref UMLS:C5680135 semapv:UnspecifiedMatching +Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref icd11:LA05.Y semapv:UnspecifiedMatching Orphanet:566852 Atelencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:566852 Atelencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:566852 Atelencephaly oboInOwl:hasDbXref UMLS:C0431348 semapv:UnspecifiedMatching +Orphanet:566852 Atelencephaly oboInOwl:hasDbXref icd11:LA05.Y semapv:UnspecifiedMatching Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref UMLS:C0431349 semapv:UnspecifiedMatching +Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref icd11:LA05.Y semapv:UnspecifiedMatching +Orphanet:566862 Left sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching Orphanet:566862 Left sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching Orphanet:566862 Left sided atrial isomerism oboInOwl:hasDbXref UMLS:C0344694 semapv:UnspecifiedMatching +Orphanet:566862 Left sided atrial isomerism oboInOwl:hasDbXref icd11:LA8Y semapv:UnspecifiedMatching +Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref MedDRA:10082326 semapv:UnspecifiedMatching Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref UMLS:C4761149 semapv:UnspecifiedMatching @@ -26253,12 +30628,14 @@ Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:125520 semapv:Uns Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:192430 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref UMLS:C0012236 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref icd11:LD44.N0 semapv:UnspecifiedMatching Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref MESH:C563745 semapv:UnspecifiedMatching Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref OMIM:609296 semapv:UnspecifiedMatching Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref UMLS:C1836437 semapv:UnspecifiedMatching Orphanet:567544 Idiopathic non-lupus full-house nephropathy oboInOwl:hasDbXref ICD10:N05 semapv:UnspecifiedMatching +Orphanet:567544 Idiopathic non-lupus full-house nephropathy oboInOwl:hasDbXref ICD10:N05 semapv:UnspecifiedMatching Orphanet:567544 Idiopathic non-lupus full-house nephropathy oboInOwl:hasDbXref UMLS:C5680132 semapv:UnspecifiedMatching Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching @@ -26281,13 +30658,16 @@ Orphanet:567560 Systemic vasculitis associated with glomerulopathy oboInOwl:hasD Orphanet:567562 Disorder with multisystemic involvement and glomerulopathy oboInOwl:hasDbXref UMLS:C5681301 semapv:UnspecifiedMatching Orphanet:567564 Nephrotic syndrome without extrarenal manifestations oboInOwl:hasDbXref UMLS:C5681299 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref UMLS:C3274301 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref icd11:DB99.60 semapv:UnspecifiedMatching Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref MESH:C537464 semapv:UnspecifiedMatching Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref OMIM:309800 semapv:UnspecifiedMatching Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref UMLS:C0796016 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching Orphanet:568041 Primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681302 semapv:UnspecifiedMatching Orphanet:568044 Primary lymphedema with systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681304 semapv:UnspecifiedMatching Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema oboInOwl:hasDbXref UMLS:C5681303 semapv:UnspecifiedMatching @@ -26307,6 +30687,7 @@ Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXr Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref OMIM:617300 semapv:UnspecifiedMatching Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref UMLS:C5680140 semapv:UnspecifiedMatching Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref ICD10:G43.1 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref ICD10:G43.1 semapv:UnspecifiedMatching Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:141500 semapv:UnspecifiedMatching Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:602481 semapv:UnspecifiedMatching Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:607516 semapv:UnspecifiedMatching @@ -26318,6 +30699,7 @@ Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref ICD10:D21.9 Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref MESH:C563181 semapv:UnspecifiedMatching Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref UMLS:C1266127 semapv:UnspecifiedMatching Orphanet:569248 Microcystic stromal tumor oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:569248 Microcystic stromal tumor oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:569248 Microcystic stromal tumor oboInOwl:hasDbXref UMLS:C3838965 semapv:UnspecifiedMatching Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -26345,6 +30727,7 @@ Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref OMIM: Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref UMLS:C5680138 semapv:UnspecifiedMatching Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref MESH:C562718 semapv:UnspecifiedMatching Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref OMIM:611881 semapv:UnspecifiedMatching Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref UMLS:C0272066 semapv:UnspecifiedMatching @@ -26357,6 +30740,7 @@ Orphanet:570 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 semapv:UnspecifiedM Orphanet:570 Moebius syndrome oboInOwl:hasDbXref UMLS:C0221060 semapv:UnspecifiedMatching Orphanet:570 Moebius syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref OMIM:300971 semapv:UnspecifiedMatching Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref UMLS:C5680366 semapv:UnspecifiedMatching Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching @@ -26367,16 +30751,20 @@ Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref UMLS:C5394377 Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref UMLS:C5197664 semapv:UnspecifiedMatching +Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref icd11:2A81.Y semapv:UnspecifiedMatching Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref icd11:XH5HJ5 semapv:UnspecifiedMatching Orphanet:570470 Ricin poisoning oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching +Orphanet:570470 Ricin poisoning oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching Orphanet:570470 Ricin poisoning oboInOwl:hasDbXref UMLS:C1443942 semapv:UnspecifiedMatching Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:618835 semapv:UnspecifiedMatching Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref UMLS:C5394232 semapv:UnspecifiedMatching +Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref ICD10:I33.0 semapv:UnspecifiedMatching Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref ICD10:I33.0 semapv:UnspecifiedMatching Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref MedDRA:10014678 semapv:UnspecifiedMatching @@ -26387,12 +30775,14 @@ Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedM Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref MESH:D050798 semapv:UnspecifiedMatching Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref MedDRA:10061981 semapv:UnspecifiedMatching Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref UMLS:C1262087 semapv:UnspecifiedMatching +Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref icd11:8A82 semapv:UnspecifiedMatching Orphanet:57146 Rare hepatic disease oboInOwl:hasDbXref UMLS:C5681272 semapv:UnspecifiedMatching Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref ICD10:M85.3 semapv:UnspecifiedMatching Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref ICD10:M85.3 semapv:UnspecifiedMatching Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref UMLS:C5396729 semapv:UnspecifiedMatching Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref icd11:LB72.Y semapv:UnspecifiedMatching Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref ICD10:D81.7 semapv:UnspecifiedMatching +Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref ICD10:D81.7 semapv:UnspecifiedMatching Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref MESH:C537079 semapv:UnspecifiedMatching Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref OMIM:209920 semapv:UnspecifiedMatching Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref UMLS:C2931418 semapv:UnspecifiedMatching @@ -26401,35 +30791,48 @@ Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla- Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref OMIM:618325 semapv:UnspecifiedMatching Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref UMLS:C5193029 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref UMLS:C5437588 semapv:UnspecifiedMatching +Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref icd11:LD44.30 semapv:UnspecifiedMatching +Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref UMLS:C5680365 semapv:UnspecifiedMatching +Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching +Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref UMLS:C5680363 semapv:UnspecifiedMatching +Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching +Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref MESH:C566196 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref OMIM:618042 semapv:UnspecifiedMatching Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C5680364 semapv:UnspecifiedMatching Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching +Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching +Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref OMIM:617604 semapv:UnspecifiedMatching Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref UMLS:C5681722 semapv:UnspecifiedMatching Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref MESH:C565382 semapv:UnspecifiedMatching Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref OMIM:251230 semapv:UnspecifiedMatching Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref UMLS:C1855079 semapv:UnspecifiedMatching Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref OMIM:617604 semapv:UnspecifiedMatching Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -26453,6 +30856,7 @@ Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref ICD10:Q93.0 semapv:Unspeci Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref MESH:C537108 semapv:UnspecifiedMatching Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref UMLS:C0795875 semapv:UnspecifiedMatching +Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref icd11:LD44.M semapv:UnspecifiedMatching Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref OMIM:616345 semapv:UnspecifiedMatching @@ -26462,31 +30866,41 @@ Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial di Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref UMLS:C5680361 semapv:UnspecifiedMatching Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref MedDRA:10064569 semapv:UnspecifiedMatching Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref OMIM:191900 semapv:UnspecifiedMatching Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS:C0268390 semapv:UnspecifiedMatching +Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref icd11:4A60.1 semapv:UnspecifiedMatching +Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref UMLS:C5680354 semapv:UnspecifiedMatching Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref MESH:C538602 semapv:UnspecifiedMatching Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref MedDRA:10072928 semapv:UnspecifiedMatching Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref OMIM:252500 semapv:UnspecifiedMatching Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref UMLS:C0020725 semapv:UnspecifiedMatching Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref ICD10:B34.2 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref ICD10:B34.2 semapv:UnspecifiedMatching Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref MESH:D065207 semapv:UnspecifiedMatching Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref MedDRA:10075271 semapv:UnspecifiedMatching Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref UMLS:C3694279 semapv:UnspecifiedMatching Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref icd11:1D64 semapv:UnspecifiedMatching Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref icd11:XN3BD semapv:UnspecifiedMatching Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680353 semapv:UnspecifiedMatching Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680351 semapv:UnspecifiedMatching Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680352 semapv:UnspecifiedMatching Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref UMLS:C4023291 semapv:UnspecifiedMatching +Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref icd11:LA87.42 semapv:UnspecifiedMatching Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref MedDRA:10083270 semapv:UnspecifiedMatching @@ -26499,18 +30913,21 @@ Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:h Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616115 semapv:UnspecifiedMatching Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C4015276 semapv:UnspecifiedMatching +Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref icd11:4A60.1 semapv:UnspecifiedMatching Orphanet:576356 Sporadic human prion disease oboInOwl:hasDbXref UMLS:C5680356 semapv:UnspecifiedMatching Orphanet:576360 Acquired human prion disease oboInOwl:hasDbXref UMLS:C5680357 semapv:UnspecifiedMatching Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref MedDRA:10064199 semapv:UnspecifiedMatching Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0376329 semapv:UnspecifiedMatching +Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E01.2 semapv:UnspecifiedMatching Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C2349757 semapv:UnspecifiedMatching Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E01.0 semapv:UnspecifiedMatching Orphanet:576742 Genetic hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C5680355 semapv:UnspecifiedMatching Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref MedDRA:10072929 semapv:UnspecifiedMatching Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching @@ -26524,10 +30941,14 @@ Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref ICD10:M85.0 semapv:Unspecif Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref MedDRA:10081724 semapv:UnspecifiedMatching Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref UMLS:C3697137 semapv:UnspecifiedMatching +Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref icd11:FB80.0 semapv:UnspecifiedMatching +Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref MedDRA:10072930 semapv:UnspecifiedMatching Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref OMIM:252650 semapv:UnspecifiedMatching Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref UMLS:C0238286 semapv:UnspecifiedMatching +Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MedDRA:10056886 semapv:UnspecifiedMatching @@ -26537,12 +30958,14 @@ Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607016 semapv: Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref UMLS:C0023786 semapv:UnspecifiedMatching Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref MedDRA:10083059 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref UMLS:C0270726 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref icd11:8A44.2 semapv:UnspecifiedMatching Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MedDRA:10056889 semapv:UnspecifiedMatching Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching @@ -26569,9 +30992,11 @@ Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.6 semapv:UnspecifiedMa Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.7 semapv:UnspecifiedMatching Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.7 semapv:UnspecifiedMatching Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.8 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.8 semapv:UnspecifiedMatching Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref MESH:D018215 semapv:UnspecifiedMatching Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref MedDRA:10004430 semapv:UnspecifiedMatching Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref UMLS:C0029417 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref icd11:2E83.Z semapv:UnspecifiedMatching Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref UMLS:C2987189 semapv:UnspecifiedMatching @@ -26583,7 +31008,10 @@ Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref OMIM:617982 semapv:UnspecifiedMatching Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref UMLS:C4693824 semapv:UnspecifiedMatching Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref ICD10:H31.0 semapv:UnspecifiedMatching +Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref ICD10:H31.0 semapv:UnspecifiedMatching Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref UMLS:C0730321 semapv:UnspecifiedMatching +Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MedDRA:10056890 semapv:UnspecifiedMatching @@ -26592,9 +31020,12 @@ Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252920 semapv: Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref UMLS:C0026706 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref UMLS:C0751381 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MedDRA:10028095 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:252300 semapv:UnspecifiedMatching @@ -26603,6 +31034,8 @@ Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253010 semapv: Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref UMLS:C0026707 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching Orphanet:58208 NON RARE IN EUROPE: Pericarditis oboInOwl:hasDbXref ICD10:I30 semapv:UnspecifiedMatching +Orphanet:58208 NON RARE IN EUROPE: Pericarditis oboInOwl:hasDbXref ICD10:I30 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MedDRA:10056892 semapv:UnspecifiedMatching @@ -26610,7 +31043,9 @@ Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref OMIM:253200 semapv: Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref UMLS:C0026709 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref icd11:5C56.33 semapv:UnspecifiedMatching Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref UMLS:C5680341 semapv:UnspecifiedMatching +Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref icd11:EF02.1 semapv:UnspecifiedMatching Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:601815 semapv:UnspecifiedMatching @@ -26622,29 +31057,38 @@ Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase defici Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref OMIM:616038 semapv:UnspecifiedMatching Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref UMLS:C5680335 semapv:UnspecifiedMatching +Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5680336 semapv:UnspecifiedMatching +Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref UMLS:C5680338 semapv:UnspecifiedMatching +Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref UMLS:C5681680 semapv:UnspecifiedMatching +Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref icd11:DB98.4 semapv:UnspecifiedMatching Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref ICD10:K55.0 semapv:UnspecifiedMatching Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref ICD10:K55.0 semapv:UnspecifiedMatching Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref UMLS:C5681682 semapv:UnspecifiedMatching Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref icd11:DD30.2 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MESH:D016538 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MedDRA:10056893 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref UMLS:C0085132 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref MESH:D052517 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref OMIM:272200 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref UMLS:C0268263 semapv:UnspecifiedMatching +Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref UMLS:C5680318 semapv:UnspecifiedMatching Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching @@ -26656,20 +31100,31 @@ Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboI Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:2A70.1 semapv:UnspecifiedMatching Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching +Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref icd11:XH8GG0 semapv:UnspecifiedMatching Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching +Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref icd11:XH4KA2 semapv:UnspecifiedMatching Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref icd11:XH4ZL2 semapv:UnspecifiedMatching Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref UMLS:C5680320 semapv:UnspecifiedMatching +Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching +Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref icd11:XH3GU8 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.0 semapv:UnspecifiedMatching Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.0 semapv:UnspecifiedMatching Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.1 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.1 semapv:UnspecifiedMatching Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref MESH:D003550 semapv:UnspecifiedMatching @@ -26678,13 +31133,17 @@ Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref OMIM:219700 semapv:UnspecifiedMa Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref UMLS:C0010674 semapv:UnspecifiedMatching Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref icd11:CA25 semapv:UnspecifiedMatching Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref ICD10:A81.9 semapv:UnspecifiedMatching +Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref ICD10:A81.9 semapv:UnspecifiedMatching Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref UMLS:C5567889 semapv:UnspecifiedMatching +Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref icd11:6D85.5 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MedDRA:10063042 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref icd11:2C31.1 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:253280 semapv:UnspecifiedMatching @@ -26704,6 +31163,7 @@ Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:159400 semapv:Unspecified Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:607085 semapv:UnspecifiedMatching Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref UMLS:C0026896 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref icd11:8C60 semapv:UnspecifiedMatching Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:618961 semapv:UnspecifiedMatching @@ -26719,45 +31179,64 @@ Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref ICD10:G11.8 se Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref OMIM:617770 semapv:UnspecifiedMatching Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref UMLS:C4540404 semapv:UnspecifiedMatching +Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref OMIM:617769 semapv:UnspecifiedMatching Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref UMLS:C4540400 semapv:UnspecifiedMatching +Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching +Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref UMLS:C5680315 semapv:UnspecifiedMatching +Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:2A61 semapv:UnspecifiedMatching +Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:XH97B7 semapv:UnspecifiedMatching Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref UMLS:C5229383 semapv:UnspecifiedMatching Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref icd11:2A22 semapv:UnspecifiedMatching Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref OMIM:616139 semapv:UnspecifiedMatching Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref UMLS:C5681638 semapv:UnspecifiedMatching Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching +Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref UMLS:C5680314 semapv:UnspecifiedMatching +Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref icd11:2A61 semapv:UnspecifiedMatching Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref OMIM:618727 semapv:UnspecifiedMatching Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref UMLS:C5680313 semapv:UnspecifiedMatching Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref OMIM:617284 semapv:UnspecifiedMatching Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref UMLS:C4310633 semapv:UnspecifiedMatching Orphanet:589746 Inherited gynecological cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5681634 semapv:UnspecifiedMatching Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680305 semapv:UnspecifiedMatching +Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching +Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680307 semapv:UnspecifiedMatching +Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching +Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680306 semapv:UnspecifiedMatching +Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching +Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680309 semapv:UnspecifiedMatching +Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching +Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680308 semapv:UnspecifiedMatching +Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref OMIM:620186 semapv:UnspecifiedMatching @@ -26774,6 +31253,7 @@ Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 semapv: Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref UMLS:C0795889 semapv:UnspecifiedMatching Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 semapv:UnspecifiedMatching Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MedDRA:10083942 semapv:UnspecifiedMatching Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254190 semapv:UnspecifiedMatching @@ -26807,14 +31287,18 @@ Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617143 semap Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617239 semapv:UnspecifiedMatching Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:619461 semapv:UnspecifiedMatching Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref UMLS:C0751882 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref icd11:8C61 semapv:UnspecifiedMatching Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref UMLS:C5680304 semapv:UnspecifiedMatching +Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref icd11:2A02.1Y semapv:UnspecifiedMatching +Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref MESH:C538194 semapv:UnspecifiedMatching Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref UMLS:C2931766 semapv:UnspecifiedMatching Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref OMIM:160500 semapv:UnspecifiedMatching Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref UMLS:C4552004 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -26823,11 +31307,13 @@ Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref MES Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:136900 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:264420 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref UMLS:C1850938 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref icd11:9B61 semapv:UnspecifiedMatching Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref MESH:C537829 semapv:UnspecifiedMatching Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref UMLS:C2931639 semapv:UnspecifiedMatching Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref OMIM:617493 semapv:UnspecifiedMatching Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref UMLS:C5680303 semapv:UnspecifiedMatching Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -26842,9 +31328,11 @@ Orphanet:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref UMLS:C5681632 semapv: Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref UMLS:C5680295 semapv:UnspecifiedMatching +Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref icd11:8A43.0 semapv:UnspecifiedMatching Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680296 semapv:UnspecifiedMatching +Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref icd11:8A41.1 semapv:UnspecifiedMatching Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref UMLS:C5680297 semapv:UnspecifiedMatching @@ -26872,6 +31360,8 @@ Orphanet:59298 Schilder disease oboInOwl:hasDbXref icd11:8A40.Y semapv:Unspecifi Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref MESH:C580316 semapv:UnspecifiedMatching Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref MedDRA:10087101 semapv:UnspecifiedMatching Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref UMLS:C2678065 semapv:UnspecifiedMatching +Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref icd11:8C76 semapv:UnspecifiedMatching +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref MESH:C564365 semapv:UnspecifiedMatching Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref OMIM:607626 semapv:UnspecifiedMatching @@ -26881,20 +31371,29 @@ Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MedDRA:1006 Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref MedDRA:10081507 semapv:UnspecifiedMatching Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref UMLS:C4510408 semapv:UnspecifiedMatching +Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref UMLS:C1866130 semapv:UnspecifiedMatching +Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref icd11:LA06.Y semapv:UnspecifiedMatching Orphanet:595 Centronuclear myopathy oboInOwl:hasDbXref UMLS:C0175709 semapv:UnspecifiedMatching Orphanet:595 Centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching Orphanet:595098 Timothy syndrome type 1 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:595098 Timothy syndrome type 1 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:595098 Timothy syndrome type 1 oboInOwl:hasDbXref UMLS:C5574939 semapv:UnspecifiedMatching +Orphanet:595098 Timothy syndrome type 1 oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching +Orphanet:595105 Timothy syndrome type 2 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:595105 Timothy syndrome type 2 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:595105 Timothy syndrome type 2 oboInOwl:hasDbXref UMLS:C4304347 semapv:UnspecifiedMatching +Orphanet:595105 Timothy syndrome type 2 oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching +Orphanet:595109 Atypical Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:595109 Atypical Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:595109 Atypical Timothy syndrome oboInOwl:hasDbXref UMLS:C5575746 semapv:UnspecifiedMatching +Orphanet:595109 Atypical Timothy syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref MESH:D054973 semapv:UnspecifiedMatching @@ -26907,29 +31406,36 @@ Orphanet:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref IC Orphanet:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching Orphanet:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0474885 semapv:UnspecifiedMatching Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410203 semapv:UnspecifiedMatching Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching +Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone oboInOwl:hasDbXref UMLS:C5681621 semapv:UnspecifiedMatching Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref UMLS:C4087124 semapv:UnspecifiedMatching Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref MESH:C000721467 semapv:UnspecifiedMatching Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref MedDRA:10085860 semapv:UnspecifiedMatching Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 semapv:UnspecifiedMatching Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref UMLS:C5435753 semapv:UnspecifiedMatching Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref UMLS:C5680288 semapv:UnspecifiedMatching Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref UMLS:C5680289 semapv:UnspecifiedMatching Orphanet:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching Orphanet:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching Orphanet:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref UMLS:C0544815 semapv:UnspecifiedMatching Orphanet:597 Central core disease oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:597 Central core disease oboInOwl:hasDbXref MESH:D020512 semapv:UnspecifiedMatching Orphanet:597 Central core disease oboInOwl:hasDbXref MedDRA:10057620 semapv:UnspecifiedMatching Orphanet:597 Central core disease oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching @@ -26943,12 +31449,15 @@ Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia- Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref OMIM:618088 semapv:UnspecifiedMatching Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref UMLS:C5681583 semapv:UnspecifiedMatching Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref OMIM:619165 semapv:UnspecifiedMatching Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref UMLS:C5436929 semapv:UnspecifiedMatching Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref OMIM:616831 semapv:UnspecifiedMatching Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref UMLS:C4085873 semapv:UnspecifiedMatching +Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref OMIM:620157 semapv:UnspecifiedMatching @@ -26964,10 +31473,13 @@ Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epi Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5681586 semapv:UnspecifiedMatching +Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref icd11:DD7Y semapv:UnspecifiedMatching +Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref OMIM:145680 semapv:UnspecifiedMatching Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref UMLS:C5680265 semapv:UnspecifiedMatching Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching @@ -26979,16 +31491,19 @@ Orphanet:598164 FOXG1 syndrome due to intragenic alteration oboInOwl:hasDbXref U Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C65 semapv:UnspecifiedMatching Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C65 semapv:UnspecifiedMatching Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C66 semapv:UnspecifiedMatching +Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C66 semapv:UnspecifiedMatching Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref UMLS:C0220648 semapv:UnspecifiedMatching Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref ICD10:U10.9 semapv:UnspecifiedMatching Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref ICD10:U10.9 semapv:UnspecifiedMatching Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref UMLS:C5680268 semapv:UnspecifiedMatching +Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref icd11:RA03 semapv:UnspecifiedMatching Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref OMIM:618381 semapv:UnspecifiedMatching Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref UMLS:C5193066 semapv:UnspecifiedMatching Orphanet:599 Distal myopathy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching Orphanet:599 Distal myopathy oboInOwl:hasDbXref UMLS:C0751336 semapv:UnspecifiedMatching +Orphanet:599 Distal myopathy oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:618205 semapv:UnspecifiedMatching @@ -26998,10 +31513,12 @@ Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref ICD10:G93.8 sem Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref UMLS:C5681600 semapv:UnspecifiedMatching Orphanet:599376 Hypomyelination of early myelinating structures oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:599376 Hypomyelination of early myelinating structures oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching Orphanet:599376 Hypomyelination of early myelinating structures oboInOwl:hasDbXref UMLS:C5680278 semapv:UnspecifiedMatching Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref UMLS:C5681601 semapv:UnspecifiedMatching +Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref MESH:C536392 semapv:UnspecifiedMatching @@ -27017,16 +31534,20 @@ Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref ICD10:D68.4 sema Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref MedDRA:10086006 semapv:UnspecifiedMatching Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref UMLS:C4329256 semapv:UnspecifiedMatching +Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref UMLS:C4331989 semapv:UnspecifiedMatching +Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref UMLS:C0272328 semapv:UnspecifiedMatching +Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref MedDRA:10082746 semapv:UnspecifiedMatching Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref UMLS:C4329257 semapv:UnspecifiedMatching +Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref UMLS:C0238120 semapv:UnspecifiedMatching @@ -27047,19 +31568,25 @@ Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:2 Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref UMLS:C4551505 semapv:UnspecifiedMatching Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 semapv:UnspecifiedMatching Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MedDRA:10001806 semapv:UnspecifiedMatching Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C0221757 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref icd11:5C5A semapv:UnspecifiedMatching +Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref MESH:C565262 semapv:UnspecifiedMatching Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref OMIM:606070 semapv:UnspecifiedMatching Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref UMLS:C1853723 semapv:UnspecifiedMatching +Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching Orphanet:60014 Argyria oboInOwl:hasDbXref ICD10:T56.8 semapv:UnspecifiedMatching Orphanet:60014 Argyria oboInOwl:hasDbXref ICD10:T56.8 semapv:UnspecifiedMatching Orphanet:60014 Argyria oboInOwl:hasDbXref MESH:D001129 semapv:UnspecifiedMatching Orphanet:60014 Argyria oboInOwl:hasDbXref MedDRA:10003094 semapv:UnspecifiedMatching Orphanet:60014 Argyria oboInOwl:hasDbXref UMLS:C0003782 semapv:UnspecifiedMatching +Orphanet:60014 Argyria oboInOwl:hasDbXref icd11:ED6Y semapv:UnspecifiedMatching +Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:168500 semapv:UnspecifiedMatching Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:609566 semapv:UnspecifiedMatching @@ -27070,15 +31597,18 @@ Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref ICD10:D68. Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref UMLS:C5681543 semapv:UnspecifiedMatching Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref MESH:C562405 semapv:UnspecifiedMatching Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref MedDRA:10037315 semapv:UnspecifiedMatching Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 semapv:UnspecifiedMatching Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C0155912 semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref icd11:CB06 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref OMIM:178610 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref UMLS:C1334969 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref MESH:D055947 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref MedDRA:10081284 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching @@ -27088,10 +31618,13 @@ Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:614816 semapv:Unspec Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:615582 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:619656 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C2697932 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref icd11:BD50.Z semapv:UnspecifiedMatching +Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MESH:C535297 semapv:UnspecifiedMatching Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MedDRA:10059314 semapv:UnspecifiedMatching Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref UMLS:C1168198 semapv:UnspecifiedMatching +Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref icd11:2F00.1 semapv:UnspecifiedMatching Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref ICD10:J47 semapv:UnspecifiedMatching Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref ICD10:J47 semapv:UnspecifiedMatching Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching @@ -27100,10 +31633,12 @@ Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613071 semapv:U Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref UMLS:C0339985 semapv:UnspecifiedMatching Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref icd11:CA24 semapv:UnspecifiedMatching Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref MESH:D060545 semapv:UnspecifiedMatching Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref UMLS:C1997249 semapv:UnspecifiedMatching Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref icd11:GA34.0Y semapv:UnspecifiedMatching Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref MESH:C536142 semapv:UnspecifiedMatching Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:602501 semapv:UnspecifiedMatching Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref UMLS:C1865285 semapv:UnspecifiedMatching @@ -27114,6 +31649,7 @@ Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:Uns Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MedDRA:10019263 semapv:UnspecifiedMatching Orphanet:60041 Congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching Orphanet:60041 Congenital heart block oboInOwl:hasDbXref UMLS:C0149530 semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref icd11:LA8Y semapv:UnspecifiedMatching Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref OMIM:614325 semapv:UnspecifiedMatching @@ -27131,49 +31667,61 @@ Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref MESH:C536208 semapv: Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref OMIM:617752 semapv:UnspecifiedMatching Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2931130 semapv:UnspecifiedMatching Orphanet:600832 Legionella infection oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching +Orphanet:600832 Legionella infection oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching Orphanet:600832 Legionella infection oboInOwl:hasDbXref MESH:D007876 semapv:UnspecifiedMatching Orphanet:600832 Legionella infection oboInOwl:hasDbXref UMLS:C0023240 semapv:UnspecifiedMatching +Orphanet:600832 Legionella infection oboInOwl:hasDbXref icd11:1C19 semapv:UnspecifiedMatching Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref UMLS:C5680241 semapv:UnspecifiedMatching Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref UMLS:C5680240 semapv:UnspecifiedMatching Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref UMLS:C5680243 semapv:UnspecifiedMatching Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref UMLS:C5680242 semapv:UnspecifiedMatching Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref UMLS:C5680237 semapv:UnspecifiedMatching Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref UMLS:C5680238 semapv:UnspecifiedMatching Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:600998 Non-syndromic cloacal malformation oboInOwl:hasDbXref ICD10:Q43.7 semapv:UnspecifiedMatching +Orphanet:600998 Non-syndromic cloacal malformation oboInOwl:hasDbXref ICD10:Q43.7 semapv:UnspecifiedMatching Orphanet:600998 Non-syndromic cloacal malformation oboInOwl:hasDbXref UMLS:C5681533 semapv:UnspecifiedMatching Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching +Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref UMLS:C5680239 semapv:UnspecifiedMatching Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching +Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref UMLS:C5680233 semapv:UnspecifiedMatching Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref UMLS:C5680234 semapv:UnspecifiedMatching Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching @@ -27187,11 +31735,13 @@ Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis oboInO Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref UMLS:C5680231 semapv:UnspecifiedMatching Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref UMLS:C5680232 semapv:UnspecifiedMatching Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching Orphanet:602 GNE myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching @@ -27201,10 +31751,13 @@ Orphanet:602 GNE myopathy oboInOwl:hasDbXref MedDRA:10077945 semapv:UnspecifiedM Orphanet:602 GNE myopathy oboInOwl:hasDbXref OMIM:605820 semapv:UnspecifiedMatching Orphanet:602 GNE myopathy oboInOwl:hasDbXref OMIM:617158 semapv:UnspecifiedMatching Orphanet:602 GNE myopathy oboInOwl:hasDbXref UMLS:C1853926 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching +Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref MedDRA:10078052 semapv:UnspecifiedMatching Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref OMIM:604454 semapv:UnspecifiedMatching Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref UMLS:C0221054 semapv:UnspecifiedMatching +Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref OMIM:619273 semapv:UnspecifiedMatching @@ -27228,16 +31781,23 @@ Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboIn Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboInOwl:hasDbXref UMLS:C5680211 semapv:UnspecifiedMatching Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref UMLS:C5680221 semapv:UnspecifiedMatching Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref OMIM:602668 semapv:UnspecifiedMatching Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref UMLS:C2931689 semapv:UnspecifiedMatching +Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref icd11:8C71.0 semapv:UnspecifiedMatching Orphanet:607 Nemaline myopathy oboInOwl:hasDbXref MESH:D017696 semapv:UnspecifiedMatching Orphanet:607 Nemaline myopathy oboInOwl:hasDbXref UMLS:C0206157 semapv:UnspecifiedMatching +Orphanet:607 Nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching +Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 semapv:UnspecifiedMatching Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1450052 semapv:UnspecifiedMatching +Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 semapv:UnspecifiedMatching Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref MedDRA:10083855 semapv:UnspecifiedMatching @@ -27245,6 +31805,7 @@ Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 semapv:Unspecified Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref UMLS:C0024748 semapv:UnspecifiedMatching Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref MESH:C535436 semapv:UnspecifiedMatching Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref OMIM:616471 semapv:UnspecifiedMatching @@ -27266,6 +31827,7 @@ Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref MESH:D018979 semapv:Unsp Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref MedDRA:10066407 semapv:UnspecifiedMatching Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref OMIM:147421 semapv:UnspecifiedMatching Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref UMLS:C0238190 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref icd11:4A41.20 semapv:UnspecifiedMatching Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:619318 semapv:UnspecifiedMatching @@ -27279,10 +31841,12 @@ Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInO Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref OMIM:619151 semapv:UnspecifiedMatching Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref UMLS:C5436906 semapv:UnspecifiedMatching Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref OMIM:619217 semapv:UnspecifiedMatching Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref OMIM:619218 semapv:UnspecifiedMatching Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref UMLS:C5680225 semapv:UnspecifiedMatching Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref OMIM:619279 semapv:UnspecifiedMatching Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref UMLS:C5543299 semapv:UnspecifiedMatching Orphanet:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -27311,19 +31875,24 @@ Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref OMIM:61930 Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref UMLS:C5543322 semapv:UnspecifiedMatching Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref MedDRA:10028655 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:160800 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref UMLS:C0027127 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref MESH:C538262 semapv:UnspecifiedMatching Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref OMIM:255960 semapv:UnspecifiedMatching Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref UMLS:C1850635 semapv:UnspecifiedMatching +Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref icd11:2F01 semapv:UnspecifiedMatching +Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref OMIM:619338 semapv:UnspecifiedMatching Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref UMLS:C5543440 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 semapv:UnspecifiedMatching +Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref MedDRA:C0239495 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref UMLS:C0239495 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref icd11:EF40.20 semapv:UnspecifiedMatching @@ -27333,9 +31902,11 @@ Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insuffic Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref UMLS:C5680387 semapv:UnspecifiedMatching Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref OMIM:618384 semapv:UnspecifiedMatching Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref UMLS:C5193068 semapv:UnspecifiedMatching Orphanet:615970 Chronic intervillositis of unknown etiology oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching +Orphanet:615970 Chronic intervillositis of unknown etiology oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching Orphanet:615970 Chronic intervillositis of unknown etiology oboInOwl:hasDbXref UMLS:C5680386 semapv:UnspecifiedMatching Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching @@ -27348,27 +31919,34 @@ Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insuffic Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref UMLS:C5680385 semapv:UnspecifiedMatching Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching Orphanet:616 Medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:616 Medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching Orphanet:616 Medulloblastoma oboInOwl:hasDbXref MedDRA:10027107 semapv:UnspecifiedMatching Orphanet:616 Medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching Orphanet:616 Medulloblastoma oboInOwl:hasDbXref UMLS:C0025149 semapv:UnspecifiedMatching Orphanet:616 Medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref ICD10:R69 semapv:UnspecifiedMatching +Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref ICD10:R69 semapv:UnspecifiedMatching Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref UMLS:C5680389 semapv:UnspecifiedMatching Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref icd11:MG48 semapv:UnspecifiedMatching Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref UMLS:C4273898 semapv:UnspecifiedMatching +Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref icd11:LB31.1 semapv:UnspecifiedMatching +Orphanet:617294 Twin anemia-polycythemia sequence oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching Orphanet:617294 Twin anemia-polycythemia sequence oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching Orphanet:617294 Twin anemia-polycythemia sequence oboInOwl:hasDbXref UMLS:C5576360 semapv:UnspecifiedMatching Orphanet:617297 Twin-reversed arterial perfusion sequence oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching +Orphanet:617297 Twin-reversed arterial perfusion sequence oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching Orphanet:617297 Twin-reversed arterial perfusion sequence oboInOwl:hasDbXref UMLS:C5575500 semapv:UnspecifiedMatching Orphanet:617301 Selective intrauterine growth restriction oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching +Orphanet:617301 Selective intrauterine growth restriction oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching Orphanet:617301 Selective intrauterine growth restriction oboInOwl:hasDbXref UMLS:C5681824 semapv:UnspecifiedMatching Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref ICD10:O88.1 semapv:UnspecifiedMatching Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref ICD10:O88.1 semapv:UnspecifiedMatching Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref MESH:D004619 semapv:UnspecifiedMatching Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref UMLS:C0013927 semapv:UnspecifiedMatching +Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref icd11:JB42.1 semapv:UnspecifiedMatching Orphanet:617307 Rare disorder related to monochorionic twin pregnancy oboInOwl:hasDbXref UMLS:C5681821 semapv:UnspecifiedMatching Orphanet:617310 Rare disorder due to unbalanced inter-twin blood transfusion oboInOwl:hasDbXref UMLS:C5681823 semapv:UnspecifiedMatching Orphanet:617313 Rare disorder due to inadequate sharing of the placenta oboInOwl:hasDbXref UMLS:C5681822 semapv:UnspecifiedMatching @@ -27376,13 +31954,16 @@ Orphanet:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref IC Orphanet:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching Orphanet:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref UMLS:C0406305 semapv:UnspecifiedMatching Orphanet:617440 Painful legs and moving toes syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:617440 Painful legs and moving toes syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:617440 Painful legs and moving toes syndrome oboInOwl:hasDbXref UMLS:C5680388 semapv:UnspecifiedMatching Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref UMLS:C5681820 semapv:UnspecifiedMatching Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref ICD10:C69.0 semapv:UnspecifiedMatching +Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref ICD10:C69.0 semapv:UnspecifiedMatching Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref MedDRA:10066384 semapv:UnspecifiedMatching Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref UMLS:C0346360 semapv:UnspecifiedMatching +Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref icd11:2D00.0 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref UMLS:C1333291 semapv:UnspecifiedMatching @@ -27391,11 +31972,19 @@ Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5681829 semapv:UnspecifiedMatching Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref icd11:3B11.Y semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching @@ -27413,6 +32002,8 @@ Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:613972 semapv:Unspecified Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:615134 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:615848 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref UMLS:C1512419 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref icd11:QC61.Y semapv:UnspecifiedMatching +Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C5539139 semapv:UnspecifiedMatching Orphanet:618899 Acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C5243927 semapv:UnspecifiedMatching @@ -27431,6 +32022,7 @@ Orphanet:619340 Inherited hematologic cancer-predisposing syndrome oboInOwl:hasD Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref UMLS:C5680418 semapv:UnspecifiedMatching Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching @@ -27448,13 +32040,18 @@ Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref OMIM:618982 semapv:UnspecifiedMatching Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref UMLS:C5680415 semapv:UnspecifiedMatching Orphanet:619972 CADINS disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:619972 CADINS disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:619972 CADINS disease oboInOwl:hasDbXref OMIM:617638 semapv:UnspecifiedMatching Orphanet:619972 CADINS disease oboInOwl:hasDbXref UMLS:C5680417 semapv:UnspecifiedMatching Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref OMIM:617744 semapv:UnspecifiedMatching Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref UMLS:C5681830 semapv:UnspecifiedMatching Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref OMIM:608099 semapv:UnspecifiedMatching +Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching +Orphanet:620 NON RARE IN EUROPE: Common mesentery oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching Orphanet:620 NON RARE IN EUROPE: Common mesentery oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching Orphanet:620096 Non-syndromic unisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680403 semapv:UnspecifiedMatching Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching @@ -27464,62 +32061,79 @@ Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref icd Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref UMLS:C5680402 semapv:UnspecifiedMatching +Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref UMLS:C5680399 semapv:UnspecifiedMatching +Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref UMLS:C5680400 semapv:UnspecifiedMatching +Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620152 Non-syndromic multisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680397 semapv:UnspecifiedMatching Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680398 semapv:UnspecifiedMatching +Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref UMLS:C5680395 semapv:UnspecifiedMatching +Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680396 semapv:UnspecifiedMatching +Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680393 semapv:UnspecifiedMatching +Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref UMLS:C5680394 semapv:UnspecifiedMatching +Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680391 semapv:UnspecifiedMatching +Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref UMLS:C5680392 semapv:UnspecifiedMatching +Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref icd11:LB70.0Y semapv:UnspecifiedMatching +Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref MESH:C537652 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref MESH:C537651 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref OMIM:616418 semapv:UnspecifiedMatching Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref UMLS:C5681826 semapv:UnspecifiedMatching Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref UMLS:C5681825 semapv:UnspecifiedMatching Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref UMLS:C5680390 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref MESH:C580280 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref MedDRA:10010543 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250700 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250790 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250800 semapv:UnspecifiedMatching Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref UMLS:C0272087 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref icd11:3A92 semapv:UnspecifiedMatching Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref OMIM:618278 semapv:UnspecifiedMatching Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref UMLS:C4748939 semapv:UnspecifiedMatching Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching @@ -27530,17 +32144,21 @@ Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref ICD10:K31 Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref MESH:D013478 semapv:UnspecifiedMatching Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref MedDRA:10054156 semapv:UnspecifiedMatching Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref UMLS:C0038828 semapv:UnspecifiedMatching +Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref icd11:DA52.Y semapv:UnspecifiedMatching Orphanet:622720 Genetic autoinflammatory syndrome with skin involvement oboInOwl:hasDbXref UMLS:C5681827 semapv:UnspecifiedMatching Orphanet:622914 Rare genetic nevus oboInOwl:hasDbXref UMLS:C5681828 semapv:UnspecifiedMatching Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref ICD10:I71.1 semapv:UnspecifiedMatching +Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref ICD10:I71.1 semapv:UnspecifiedMatching Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref OMIM:300989 semapv:UnspecifiedMatching Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref UMLS:C4310811 semapv:UnspecifiedMatching Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5680412 semapv:UnspecifiedMatching +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref MESH:C531729 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref UMLS:C2930824 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching @@ -27560,6 +32178,7 @@ Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref ICD10:F45.2 semapv:U Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref UMLS:C4546282 semapv:UnspecifiedMatching Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref icd11:6C21 semapv:UnspecifiedMatching Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref MESH:C000629404 semapv:UnspecifiedMatching Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref MedDRA:10082097 semapv:UnspecifiedMatching Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref UMLS:C4290000 semapv:UnspecifiedMatching @@ -27569,16 +32188,22 @@ Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref MESH:C535816 sema Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref MedDRA:10067193 semapv:UnspecifiedMatching Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref OMIM:163000 semapv:UnspecifiedMatching Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref UMLS:C2931029 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref icd11:LC50 semapv:UnspecifiedMatching +Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies oboInOwl:hasDbXref UMLS:C5680408 semapv:UnspecifiedMatching Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies oboInOwl:hasDbXref UMLS:C5680409 semapv:UnspecifiedMatching Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref UMLS:C5680406 semapv:UnspecifiedMatching Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies oboInOwl:hasDbXref UMLS:C5680405 semapv:UnspecifiedMatching Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies oboInOwl:hasDbXref UMLS:C5680407 semapv:UnspecifiedMatching Orphanet:624244 Postinfectious cerebellitis oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:624244 Postinfectious cerebellitis oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching @@ -27604,14 +32229,18 @@ Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref OMIM:302350 semapv:Unspecif Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref UMLS:C0796085 semapv:UnspecifiedMatching Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref MESH:C536170 semapv:UnspecifiedMatching Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref MedDRA:10081228 semapv:UnspecifiedMatching Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref UMLS:C0220726 semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref icd11:LD24.03 semapv:UnspecifiedMatching +Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref MESH:C537505 semapv:UnspecifiedMatching Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref OMIM:262650 semapv:UnspecifiedMatching Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref UMLS:C1849779 semapv:UnspecifiedMatching +Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:63 Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:63 Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:63 Alport syndrome oboInOwl:hasDbXref MESH:D009394 semapv:UnspecifiedMatching @@ -27620,6 +32249,8 @@ Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMat Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching Orphanet:63 Alport syndrome oboInOwl:hasDbXref UMLS:C1567741 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref MedDRA:10035083 semapv:UnspecifiedMatching Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching @@ -27629,45 +32260,56 @@ Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C5679572 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref OMIM:618418 semapv:UnspecifiedMatching Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref UMLS:C5193084 semapv:UnspecifiedMatching +Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref OMIM:618770 semapv:UnspecifiedMatching Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref UMLS:C5394037 semapv:UnspecifiedMatching +Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref OMIM:619027 semapv:UnspecifiedMatching Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref UMLS:C5436637 semapv:UnspecifiedMatching +Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref OMIM:619621 semapv:UnspecifiedMatching Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref UMLS:C5562025 semapv:UnspecifiedMatching +Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref OMIM:619686 semapv:UnspecifiedMatching Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref UMLS:C5562053 semapv:UnspecifiedMatching +Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref OMIM:619735 semapv:UnspecifiedMatching Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref UMLS:C5676910 semapv:UnspecifiedMatching +Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref UMLS:C5774182 semapv:UnspecifiedMatching +Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref OMIM:617691 semapv:UnspecifiedMatching Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref UMLS:C4521563 semapv:UnspecifiedMatching +Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref OMIM:618093 semapv:UnspecifiedMatching Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref UMLS:C4748158 semapv:UnspecifiedMatching +Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref OMIM:619806 semapv:UnspecifiedMatching Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref UMLS:C5676950 semapv:UnspecifiedMatching +Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref OMIM:618960 semapv:UnspecifiedMatching @@ -27676,12 +32318,16 @@ Orphanet:631251 Cancer of unknown primary site oboInOwl:hasDbXref ICD10:C80.0 se Orphanet:631251 Cancer of unknown primary site oboInOwl:hasDbXref ICD10:C80.0 semapv:UnspecifiedMatching Orphanet:631251 Cancer of unknown primary site oboInOwl:hasDbXref UMLS:C0027667 semapv:UnspecifiedMatching Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C0472813 semapv:UnspecifiedMatching Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching Orphanet:63259 Iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching +Orphanet:63259 Iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching Orphanet:63259 Iniencephaly oboInOwl:hasDbXref MedDRA:10022034 semapv:UnspecifiedMatching Orphanet:63259 Iniencephaly oboInOwl:hasDbXref UMLS:C0152234 semapv:UnspecifiedMatching +Orphanet:63259 Iniencephaly oboInOwl:hasDbXref icd11:LA00.1 semapv:UnspecifiedMatching +Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref ICD10:Q00.1 semapv:UnspecifiedMatching Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref ICD10:Q00.1 semapv:UnspecifiedMatching Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref MedDRA:10011321 semapv:UnspecifiedMatching Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref UMLS:C0152426 semapv:UnspecifiedMatching @@ -27695,31 +32341,40 @@ Orphanet:63261 HERNS syndrome oboInOwl:hasDbXref ICD10:I67.3 semapv:UnspecifiedM Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref OMIM:201750 semapv:UnspecifiedMatching +Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref OMIM:614065 semapv:UnspecifiedMatching Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref UMLS:C4518807 semapv:UnspecifiedMatching +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatching +Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 semapv:UnspecifiedMatching Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref MedDRA:10019939 semapv:UnspecifiedMatching Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref UMLS:C0019343 semapv:UnspecifiedMatching +Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref icd11:JA65.10 semapv:UnspecifiedMatching Orphanet:633 Laron syndrome oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:633 Laron syndrome oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:633 Laron syndrome oboInOwl:hasDbXref MESH:D046150 semapv:UnspecifiedMatching Orphanet:633 Laron syndrome oboInOwl:hasDbXref MedDRA:10075492 semapv:UnspecifiedMatching Orphanet:633 Laron syndrome oboInOwl:hasDbXref OMIM:262500 semapv:UnspecifiedMatching Orphanet:633 Laron syndrome oboInOwl:hasDbXref UMLS:C0271568 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref OMIM:618846 semapv:UnspecifiedMatching Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref UMLS:C5394263 semapv:UnspecifiedMatching Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619080 semapv:UnspecifiedMatching +Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619083 semapv:UnspecifiedMatching +Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -27736,7 +32391,10 @@ Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref UMLS:C1291561 semapv:Unspeci Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:633228 Proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:633228 Proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:634 Netherton syndrome oboInOwl:hasDbXref MESH:D056770 semapv:UnspecifiedMatching Orphanet:634 Netherton syndrome oboInOwl:hasDbXref MedDRA:10062909 semapv:UnspecifiedMatching @@ -27749,6 +32407,7 @@ Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref MES Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10066017 semapv:UnspecifiedMatching Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref OMIM:105835 semapv:UnspecifiedMatching Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C1739384 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:63443 Rare epithelial tumor of stomach oboInOwl:hasDbXref MedDRA:10017758 semapv:UnspecifiedMatching Orphanet:63443 Rare epithelial tumor of stomach oboInOwl:hasDbXref UMLS:C5680118 semapv:UnspecifiedMatching Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching @@ -27756,6 +32415,7 @@ Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref MESH:C564334 semapv:UnspecifiedMatching Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref OMIM:607778 semapv:UnspecifiedMatching Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref UMLS:C1843096 semapv:UnspecifiedMatching +Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching @@ -27767,6 +32427,7 @@ Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:Uns Orphanet:63454 Pattern dystrophy oboInOwl:hasDbXref MESH:C536309 semapv:UnspecifiedMatching Orphanet:63454 Pattern dystrophy oboInOwl:hasDbXref UMLS:C1868569 semapv:UnspecifiedMatching Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref MedDRA:10057056 semapv:UnspecifiedMatching Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref UMLS:C1112570 semapv:UnspecifiedMatching Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref icd11:EB40.2 semapv:UnspecifiedMatching @@ -27783,6 +32444,7 @@ Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613017 semapv:UnspecifiedMatc Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:616792 semapv:UnspecifiedMatching Orphanet:635 Neuroblastoma oboInOwl:hasDbXref UMLS:C0027819 semapv:UnspecifiedMatching Orphanet:635 Neuroblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref icd11:XH85Z0 semapv:UnspecifiedMatching Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MESH:D009456 semapv:UnspecifiedMatching @@ -27791,6 +32453,7 @@ Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162200 semapv:Unsp Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref UMLS:C0027831 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref icd11:LD2D.10 semapv:UnspecifiedMatching Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:618343 semapv:UnspecifiedMatching @@ -27820,10 +32483,13 @@ Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MESH:D016518 se Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref UMLS:C0027832 semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref icd11:LD2D.11 semapv:UnspecifiedMatching Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619293 semapv:UnspecifiedMatching Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching +Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching +Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref icd11:1C80 semapv:UnspecifiedMatching Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref MESH:C563492 semapv:UnspecifiedMatching @@ -27833,6 +32499,7 @@ Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 sema Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref icd11:LA13.71 semapv:UnspecifiedMatching Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS:C2931482 semapv:UnspecifiedMatching @@ -27856,11 +32523,14 @@ Orphanet:64 Alström syndrome oboInOwl:hasDbXref MESH:D056769 semapv:Unspecified Orphanet:64 Alström syndrome oboInOwl:hasDbXref MedDRA:10068783 semapv:UnspecifiedMatching Orphanet:64 Alström syndrome oboInOwl:hasDbXref OMIM:203800 semapv:UnspecifiedMatching Orphanet:64 Alström syndrome oboInOwl:hasDbXref UMLS:C0268425 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MESH:C536965 semapv:UnspecifiedMatching Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MedDRA:10069382 semapv:UnspecifiedMatching Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref OMIM:162500 semapv:UnspecifiedMatching Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS:C0393814 semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref MedDRA:10065579 semapv:UnspecifiedMatching @@ -27871,25 +32541,35 @@ Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac con Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref UMLS:C5562005 semapv:UnspecifiedMatching Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:618282 semapv:UnspecifiedMatching Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching +Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching +Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:641380 PAPASH syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:641385 PASS syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:641390 PsAPASH syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.0+ semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.0+ semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.1+ semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.1+ semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.8+ semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.8+ semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G05.0* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G05.0* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G63.0* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G63.0* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref UMLS:C0275904 semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref icd11:1B11 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching @@ -27923,6 +32603,7 @@ Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref icd11:8A03.1Y Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref OMIM:617537 semapv:UnspecifiedMatching Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref UMLS:C4479637 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:600131 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:607681 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611136 semapv:UnspecifiedMatching @@ -27937,6 +32618,7 @@ Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:Unspe Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref MESH:D056768 semapv:UnspecifiedMatching Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref OMIM:256850 semapv:UnspecifiedMatching Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref UMLS:C5200933 semapv:UnspecifiedMatching +Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref icd11:8C2Y semapv:UnspecifiedMatching Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref OMIM:617602 semapv:UnspecifiedMatching Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref UMLS:C4539857 semapv:UnspecifiedMatching Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching @@ -27948,19 +32630,24 @@ Orphanet:644 NARP syndrome oboInOwl:hasDbXref MESH:C537396 semapv:UnspecifiedMat Orphanet:644 NARP syndrome oboInOwl:hasDbXref MedDRA:10062940 semapv:UnspecifiedMatching Orphanet:644 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching Orphanet:644 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref icd11:8C73.1 semapv:UnspecifiedMatching Orphanet:645188 Spinal dermal sinus oboInOwl:hasDbXref UMLS:C0011599 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref MedDRA:10041525 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref UMLS:C0080174 semapv:UnspecifiedMatching +Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref icd11:LB73.0 semapv:UnspecifiedMatching Orphanet:645276 Spinal cord lipoma oboInOwl:hasDbXref UMLS:C0347446 semapv:UnspecifiedMatching Orphanet:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref UMLS:C4751188 semapv:UnspecifiedMatching Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref MedDRA:10086467 semapv:UnspecifiedMatching Orphanet:645398 Myeloschisis oboInOwl:hasDbXref UMLS:C0266507 semapv:UnspecifiedMatching +Orphanet:645398 Myeloschisis oboInOwl:hasDbXref icd11:LA02.Y semapv:UnspecifiedMatching +Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref UMLS:C4304094 semapv:UnspecifiedMatching Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref UMLS:C5575230 semapv:UnspecifiedMatching Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching @@ -27973,12 +32660,17 @@ Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref MedDRA:1001056 Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref UMLS:C1963580 semapv:UnspecifiedMatching Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref icd11:LB12.3 semapv:UnspecifiedMatching Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref UMLS:C3897004 semapv:UnspecifiedMatching +Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref icd11:KB84 semapv:UnspecifiedMatching Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref UMLS:C0041316 semapv:UnspecifiedMatching +Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref icd11:1B12.6 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.0 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.0 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.1 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.1 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.2 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.2 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.3 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.3 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.4 semapv:UnspecifiedMatching @@ -27992,6 +32684,8 @@ Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.7 se Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.8 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.8 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.0 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.0 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.1 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.1 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.2 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.2 semapv:UnspecifiedMatching @@ -28008,7 +32702,9 @@ Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.8 se Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref UMLS:C0041327 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref icd11:1B10 semapv:UnspecifiedMatching Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref ICD10:A18.0, semapv:UnspecifiedMatching +Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref ICD10:A18.0, semapv:UnspecifiedMatching Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref UMLS:C0041324 semapv:UnspecifiedMatching +Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref icd11:1B12.4 semapv:UnspecifiedMatching Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref UMLS:C0041309 semapv:UnspecifiedMatching @@ -28023,14 +32719,18 @@ Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref UMLS:C0041333 semapv:UnspecifiedMatching +Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref icd11:1B12.5 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref MESH:D052556 semapv:UnspecifiedMatching Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:257220 semapv:UnspecifiedMatching Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:607625 semapv:UnspecifiedMatching Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref UMLS:C0220756 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching @@ -28040,17 +32740,22 @@ Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref icd11:LD24.1 Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4479246 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching +Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:D020333 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MedDRA:10051526 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref UMLS:C0040381 semapv:UnspecifiedMatching +Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref icd11:8A85 semapv:UnspecifiedMatching +Orphanet:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching Orphanet:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching Orphanet:64692 Oroya fever oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching Orphanet:64692 Oroya fever oboInOwl:hasDbXref UMLS:C0029307 semapv:UnspecifiedMatching Orphanet:64692 Oroya fever oboInOwl:hasDbXref icd11:1C11.00 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 semapv:UnspecifiedMatching +Orphanet:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref MESH:D014205 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref MedDRA:10044582 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref UMLS:C0040830 semapv:UnspecifiedMatching +Orphanet:64694 Trench fever oboInOwl:hasDbXref icd11:1C11.1 semapv:UnspecifiedMatching Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching @@ -28059,10 +32764,12 @@ Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:Un Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS:C0398791 semapv:UnspecifiedMatching Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref MedDRA:10024189 semapv:UnspecifiedMatching Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref UMLS:C0023269 semapv:UnspecifiedMatching Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref ICD10:N61 semapv:UnspecifiedMatching +Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref ICD10:N61 semapv:UnspecifiedMatching Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref MESH:D058890 semapv:UnspecifiedMatching Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref UMLS:C0405469 semapv:UnspecifiedMatching Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref ICD10:H21.1 semapv:UnspecifiedMatching @@ -28081,9 +32788,13 @@ Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 semapv:UnspecifiedMatching Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref icd11:GA32.0 semapv:UnspecifiedMatching Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis oboInOwl:hasDbXref ICD10:K85 semapv:UnspecifiedMatching +Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis oboInOwl:hasDbXref ICD10:K85 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching @@ -28091,8 +32802,12 @@ Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:Unspecif Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref MESH:D018202 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref UMLS:C0206629 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref icd11:XH5VH1 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching @@ -28103,6 +32818,7 @@ Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref MedDRA:10080682 semap Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref UMLS:C1266144 semapv:UnspecifiedMatching Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref icd11:XH2FY9 semapv:UnspecifiedMatching Orphanet:64743 Hepatoportal sclerosis oboInOwl:hasDbXref ICD10:K74.1 semapv:UnspecifiedMatching Orphanet:64743 Hepatoportal sclerosis oboInOwl:hasDbXref ICD10:K74.1 semapv:UnspecifiedMatching Orphanet:64743 Hepatoportal sclerosis oboInOwl:hasDbXref UMLS:C4273756 semapv:UnspecifiedMatching @@ -28122,31 +32838,39 @@ Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:ha Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:64747 X-linked Charcot-Marie-Tooth disease oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:145900 semapv:UnspecifiedMatching Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:618184 semapv:UnspecifiedMatching Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref UMLS:C0011195 semapv:UnspecifiedMatching +Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching Orphanet:64749 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C4082197 semapv:UnspecifiedMatching Orphanet:64749 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref OMIM:600361 semapv:UnspecifiedMatching Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref UMLS:C4721916 semapv:UnspecifiedMatching +Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 semapv:UnspecifiedMatching Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0020075 semapv:UnspecifiedMatching Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref icd11:8C21.3 semapv:UnspecifiedMatching Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:606002 semapv:UnspecifiedMatching Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:615217 semapv:UnspecifiedMatching +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref icd11:9C82.4 semapv:UnspecifiedMatching Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref OMIM:617025 semapv:UnspecifiedMatching Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref UMLS:C0265987 semapv:UnspecifiedMatching +Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref MESH:C565735 semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref OMIM:604919 semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref UMLS:C1858042 semapv:UnspecifiedMatching +Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref icd11:LC02 semapv:UnspecifiedMatching Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref OMIM:619127 semapv:UnspecifiedMatching Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref UMLS:C5436867 semapv:UnspecifiedMatching Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref OMIM:617719 semapv:UnspecifiedMatching @@ -28170,6 +32894,7 @@ Orphanet:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref OMIM:606069 s Orphanet:647916 Conjoined twins oboInOwl:hasDbXref MedDRA:10010688 semapv:UnspecifiedMatching Orphanet:647916 Conjoined twins oboInOwl:hasDbXref UMLS:C0041428 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref MedDRA:10029748 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:163950 semapv:UnspecifiedMatching @@ -28187,6 +32912,7 @@ Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:618624 semapv:UnspecifiedMa Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:619087 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:619745 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref UMLS:C0028326 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref icd11:LD2F.15 semapv:UnspecifiedMatching Orphanet:648562 Ferroportin disease oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching Orphanet:648581 Digenic hemochromatosis oboInOwl:hasDbXref UMLS:C3150862 semapv:UnspecifiedMatching Orphanet:648681 Immune-mediated scleritis oboInOwl:hasDbXref MedDRA:10087281 semapv:UnspecifiedMatching @@ -28197,6 +32923,7 @@ Orphanet:649 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMa Orphanet:649 Norrie disease oboInOwl:hasDbXref MedDRA:10069760 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref UMLS:C0266526 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching Orphanet:649029 Isolated left bronchial isomerism oboInOwl:hasDbXref UMLS:C3164781 semapv:UnspecifiedMatching Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -28222,6 +32949,7 @@ Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:614186 semapv:Uns Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:615360 semapv:UnspecifiedMatching Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:618513 semapv:UnspecifiedMatching Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref UMLS:C0339527 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:650 LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:650 LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:650 LCAT deficiency oboInOwl:hasDbXref MESH:D007863 semapv:UnspecifiedMatching @@ -28229,8 +32957,10 @@ Orphanet:650 LCAT deficiency oboInOwl:hasDbXref MedDRA:10077917 semapv:Unspecifi Orphanet:650 LCAT deficiency oboInOwl:hasDbXref OMIM:136120 semapv:UnspecifiedMatching Orphanet:650 LCAT deficiency oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching Orphanet:650 LCAT deficiency oboInOwl:hasDbXref UMLS:C0023195 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref icd11:5C81.0 semapv:UnspecifiedMatching Orphanet:650097 Genetic central precocious puberty in male oboInOwl:hasDbXref OMIM:176400 semapv:UnspecifiedMatching Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus oboInOwl:hasDbXref ICD10:H81.1 semapv:UnspecifiedMatching +Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus oboInOwl:hasDbXref ICD10:H81.1 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 semapv:UnspecifiedMatching @@ -28244,21 +32974,26 @@ Orphanet:65250 Perineural cyst oboInOwl:hasDbXref UMLS:C0520720 semapv:Unspecifi Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation oboInOwl:hasDbXref OMIM:600987 semapv:UnspecifiedMatching Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:150550 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref MESH:C535581 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:605676 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:615821 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref UMLS:C1854063 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref icd11:BC43.6 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref MESH:C536962 semapv:UnspecifiedMatching Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref MedDRA:10079205 semapv:UnspecifiedMatching Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref OMIM:601005 semapv:UnspecifiedMatching Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref UMLS:C1832916 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref MESH:C537658 semapv:UnspecifiedMatching Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref UMLS:C1843807 semapv:UnspecifiedMatching +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref icd11:5C63.Y semapv:UnspecifiedMatching Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching @@ -28269,6 +33004,7 @@ Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref MESH:C567184 semapv:UnspecifiedMatching Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref OMIM:609425 semapv:UnspecifiedMatching Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2674949 semapv:UnspecifiedMatching +Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.30 semapv:UnspecifiedMatching Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref MESH:C563210 semapv:UnspecifiedMatching @@ -28280,6 +33016,7 @@ Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar ag Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref MESH:C563796 semapv:UnspecifiedMatching Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref OMIM:609069 semapv:UnspecifiedMatching Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref UMLS:C1836780 semapv:UnspecifiedMatching +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref icd11:KB60.2Y semapv:UnspecifiedMatching Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref MedDRA:10028191 semapv:UnspecifiedMatching @@ -28304,6 +33041,8 @@ Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601363 semapv:UnspecifiedMat Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601583 semapv:UnspecifiedMatching Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:616806 semapv:UnspecifiedMatching Orphanet:654 Nephroblastoma oboInOwl:hasDbXref UMLS:C0027708 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:655 Nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching @@ -28318,8 +33057,11 @@ Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedM Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615862 semapv:UnspecifiedMatching Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching Orphanet:655 Nephronophthisis oboInOwl:hasDbXref UMLS:C0687120 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref icd11:GB83 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:256370 semapv:UnspecifiedMatching @@ -28348,6 +33090,7 @@ Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMI Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619155 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619201 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C4273714 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref icd11:GB41 semapv:UnspecifiedMatching Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome oboInOwl:hasDbXref OMIM:617641 semapv:UnspecifiedMatching Orphanet:656135 Intellectual disability-cupped ears syndrome oboInOwl:hasDbXref OMIM:618604 semapv:UnspecifiedMatching Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching @@ -28361,6 +33104,7 @@ Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref MedDRA:10046879 semapv:Unspeci Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref UMLS:C1321884 semapv:UnspecifiedMatching Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref icd11:LB42.5 semapv:UnspecifiedMatching Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref MedDRA:10087038 semapv:UnspecifiedMatching Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching @@ -28385,6 +33129,7 @@ Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref ICD10 Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref MESH:C563791 semapv:UnspecifiedMatching Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref OMIM:609128 semapv:UnspecifiedMatching Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref UMLS:C1836756 semapv:UnspecifiedMatching +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref MESH:C566739 semapv:UnspecifiedMatching @@ -28395,6 +33140,7 @@ Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref ICD Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref ICD10:D48.5 semapv:UnspecifiedMatching Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref OMIM:132800 semapv:UnspecifiedMatching Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref UMLS:C0546476 semapv:UnspecifiedMatching +Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref icd11:2C31.1 semapv:UnspecifiedMatching Orphanet:65753 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0751036 semapv:UnspecifiedMatching Orphanet:65753 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -28404,11 +33150,13 @@ Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref MedDRA:10081310 semapv:Unsp Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref OMIM:201000 semapv:UnspecifiedMatching Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref OMIM:614976 semapv:UnspecifiedMatching Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref UMLS:C1275078 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref OMIM:201020 semapv:UnspecifiedMatching Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref UMLS:C0265303 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MedDRA:10068842 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:300918 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:614594 semapv:UnspecifiedMatching @@ -28416,11 +33164,13 @@ Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic pl Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref UMLS:C0406761 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref MedDRA:10030308 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref OMIM:310980 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref icd11:LB01 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref MESH:C536209 semapv:UnspecifiedMatching @@ -28436,8 +33186,12 @@ Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MESH:D056684 semapv:Unspeci Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MedDRA:10048244 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref icd11:EE11.1 semapv:UnspecifiedMatching +Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 semapv:UnspecifiedMatching +Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref icd11:9C82.0 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MedDRA:10052450 semapv:UnspecifiedMatching @@ -28454,6 +33208,8 @@ Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:U Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref MESH:D054549 semapv:UnspecifiedMatching Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref MedDRA:10066286 semapv:UnspecifiedMatching Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref UMLS:C1739395 semapv:UnspecifiedMatching +Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref icd11:BC43.5 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref MedDRA:10031243 semapv:UnspecifiedMatching @@ -28511,12 +33267,15 @@ Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref OMI Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref UMLS:C0265565 semapv:UnspecifiedMatching Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref icd11:LB72.Y semapv:UnspecifiedMatching Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref MESH:C537943 semapv:UnspecifiedMatching Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref OMIM:609528 semapv:UnspecifiedMatching Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836033 semapv:UnspecifiedMatching Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref UMLS:C4510044 semapv:UnspecifiedMatching +Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref MESH:C565706 semapv:UnspecifiedMatching @@ -28528,20 +33287,27 @@ Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv: Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref MESH:C564305 semapv:UnspecifiedMatching Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref OMIM:608022 semapv:UnspecifiedMatching Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref UMLS:C1842691 semapv:UnspecifiedMatching +Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:66646 Cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching Orphanet:66646 Cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C1136033 semapv:UnspecifiedMatching Orphanet:66646 Cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.1 semapv:UnspecifiedMatching Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref MESH:D012515 semapv:UnspecifiedMatching Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref UMLS:C0036221 semapv:UnspecifiedMatching +Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref icd11:2A21.2 semapv:UnspecifiedMatching +Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0272202 semapv:UnspecifiedMatching +Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref icd11:2A21.3 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:259700 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:259710 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:611490 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:615085 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref UMLS:C1318518 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref MESH:D012516 semapv:UnspecifiedMatching @@ -28552,6 +33318,8 @@ Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51 semapv:UnspecifiedMatchi Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.0 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.1 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.2 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.Y semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.0 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.0 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.1 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.1 semapv:UnspecifiedMatching @@ -28573,6 +33341,8 @@ Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06 Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.9 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref MESH:C531613 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref UMLS:C2930799 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.0 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.01 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.10 semapv:UnspecifiedMatching Orphanet:670 PIBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching @@ -28598,18 +33368,23 @@ Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref icd11:2A82 Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref UMLS:C3698531 semapv:UnspecifiedMatching +Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref icd11:DA07.3 semapv:UnspecifiedMatching +Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref MESH:C563209 semapv:UnspecifiedMatching Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref OMIM:601492 semapv:UnspecifiedMatching Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref UMLS:C1291490 semapv:UnspecifiedMatching +Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref MESH:C565309 semapv:UnspecifiedMatching Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref OMIM:605670 semapv:UnspecifiedMatching Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref UMLS:C1854065 semapv:UnspecifiedMatching +Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:B60.1+ semapv:UnspecifiedMatching Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:B60.1+ semapv:UnspecifiedMatching Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:H19.2* semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:H19.2* semapv:UnspecifiedMatching Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref MESH:D015823 semapv:UnspecifiedMatching Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref MedDRA:10069408 semapv:UnspecifiedMatching Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref UMLS:C0000880 semapv:UnspecifiedMatching @@ -28619,9 +33394,11 @@ Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOw Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatching Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C4302508 semapv:UnspecifiedMatching Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref MESH:C564712 semapv:UnspecifiedMatching Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C1848068 semapv:UnspecifiedMatching +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref MESH:C562801 semapv:UnspecifiedMatching @@ -28641,6 +33418,7 @@ Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref OMIM:250951 Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref UMLS:C1855126 semapv:UnspecifiedMatching Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:671 Primary cutis verticis gyrata oboInOwl:hasDbXref UMLS:C0263417 semapv:UnspecifiedMatching +Orphanet:671 Primary cutis verticis gyrata oboInOwl:hasDbXref icd11:EE7Y semapv:UnspecifiedMatching Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:UnspecifiedMatching @@ -28650,19 +33428,25 @@ Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:Uns Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.9 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.9 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.9 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.9 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.8 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.9 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.9 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.1 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.1 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.8 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.8 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B54 semapv:UnspecifiedMatching @@ -28672,34 +33456,49 @@ Orphanet:673 Malaria oboInOwl:hasDbXref MedDRA:10025487 semapv:UnspecifiedMatchi Orphanet:673 Malaria oboInOwl:hasDbXref OMIM:611162 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref UMLS:C0024530 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F40 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F41 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F42 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F43 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F44 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F45 semapv:UnspecifiedMatching +Orphanet:674 Accessory pancreas oboInOwl:hasDbXref ICD10:Q45.3 semapv:UnspecifiedMatching Orphanet:674 Accessory pancreas oboInOwl:hasDbXref ICD10:Q45.3 semapv:UnspecifiedMatching Orphanet:674 Accessory pancreas oboInOwl:hasDbXref MESH:C536003 semapv:UnspecifiedMatching Orphanet:674 Accessory pancreas oboInOwl:hasDbXref UMLS:C0266268 semapv:UnspecifiedMatching +Orphanet:674 Accessory pancreas oboInOwl:hasDbXref icd11:LB21.2 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref ICD10:Q45.1 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref ICD10:Q45.1 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref MedDRA:10071757 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref UMLS:C0149955 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref icd11:LB21.0 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref UMLS:C0238339 semapv:UnspecifiedMatching +Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref icd11:DC32.2 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MedDRA:10073367 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref UMLS:C0334489 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref icd11:XH27L5 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MESH:D010214 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MedDRA:10082856 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref OMIM:245000 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref UMLS:C0030360 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref MESH:D054853 semapv:UnspecifiedMatching Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref MedDRA:10064281 semapv:UnspecifiedMatching Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref OMIM:602248 semapv:UnspecifiedMatching Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref UMLS:C0221011 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref icd11:EF5Y semapv:UnspecifiedMatching Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.1 semapv:UnspecifiedMatching Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.1 semapv:UnspecifiedMatching Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.2 semapv:UnspecifiedMatching @@ -28707,17 +33506,22 @@ Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.2 Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref UMLS:C5681222 semapv:UnspecifiedMatching Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref icd11:1A36.11 semapv:UnspecifiedMatching Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref icd11:1A36.12 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref icd11:1A36.1Y semapv:UnspecifiedMatching Orphanet:680 Normokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170600 semapv:UnspecifiedMatching Orphanet:680 Normokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0268445 semapv:UnspecifiedMatching Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref MESH:D020514 semapv:UnspecifiedMatching Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238358 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref icd11:8C74.10 semapv:UnspecifiedMatching +Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semapv:UnspecifiedMatching Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 semapv:UnspecifiedMatching Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 semapv:UnspecifiedMatching +Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref icd11:8C74.11 semapv:UnspecifiedMatching Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref MESH:D013494 semapv:UnspecifiedMatching @@ -28727,6 +33531,7 @@ Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:601104 semap Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref UMLS:C0038868 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:68329 Rare maxillo-facial surgical disease oboInOwl:hasDbXref UMLS:C5680147 semapv:UnspecifiedMatching Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect oboInOwl:hasDbXref UMLS:C5680146 semapv:UnspecifiedMatching Orphanet:68335 Rare chromosomal anomaly oboInOwl:hasDbXref MESH:D002869 semapv:UnspecifiedMatching @@ -28740,6 +33545,7 @@ Orphanet:68354 Rare sleep disorder oboInOwl:hasDbXref MedDRA:10040984 semapv:Uns Orphanet:68354 Rare sleep disorder oboInOwl:hasDbXref UMLS:C5681308 semapv:UnspecifiedMatching Orphanet:68356 Leukodystrophy oboInOwl:hasDbXref MedDRA:10024381 semapv:UnspecifiedMatching Orphanet:68356 Leukodystrophy oboInOwl:hasDbXref UMLS:C0023520 semapv:UnspecifiedMatching +Orphanet:68356 Leukodystrophy oboInOwl:hasDbXref icd11:8A44 semapv:UnspecifiedMatching Orphanet:68361 Rare deafness oboInOwl:hasDbXref UMLS:C5680167 semapv:UnspecifiedMatching Orphanet:68362 Rare vascular disease oboInOwl:hasDbXref UMLS:C5681327 semapv:UnspecifiedMatching Orphanet:68363 Rare dystonia oboInOwl:hasDbXref UMLS:C5680168 semapv:UnspecifiedMatching @@ -28762,9 +33568,11 @@ Orphanet:68383 Rare constitutional aplastic anemia oboInOwl:hasDbXref ICD10:D61. Orphanet:68383 Rare constitutional aplastic anemia oboInOwl:hasDbXref UMLS:C5681331 semapv:UnspecifiedMatching Orphanet:68385 Neurometabolic disease oboInOwl:hasDbXref UMLS:C5681332 semapv:UnspecifiedMatching Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MedDRA:10088318 semapv:UnspecifiedMatching Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 semapv:UnspecifiedMatching Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C0221055 semapv:UnspecifiedMatching +Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref icd11:8C74.0 semapv:UnspecifiedMatching Orphanet:68402 Rare parkinsonian disorder oboInOwl:hasDbXref UMLS:C5680173 semapv:UnspecifiedMatching Orphanet:68411 Rare bone tumor oboInOwl:hasDbXref UMLS:C5681337 semapv:UnspecifiedMatching Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly oboInOwl:hasDbXref UMLS:C5681339 semapv:UnspecifiedMatching @@ -28777,17 +33585,21 @@ Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref MedDRA:10019903 se Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0037773 semapv:UnspecifiedMatching Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref icd11:8B44.0 semapv:UnspecifiedMatching Orphanet:69 Amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:69 Amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:69 Amyloidosis oboInOwl:hasDbXref MESH:D000686 semapv:UnspecifiedMatching Orphanet:69 Amyloidosis oboInOwl:hasDbXref MedDRA:10002022 semapv:UnspecifiedMatching Orphanet:69 Amyloidosis oboInOwl:hasDbXref UMLS:C0002726 semapv:UnspecifiedMatching Orphanet:69 Amyloidosis oboInOwl:hasDbXref icd11:5D00 semapv:UnspecifiedMatching Orphanet:69028 Dysostosis with brachydactyly oboInOwl:hasDbXref UMLS:C5681270 semapv:UnspecifiedMatching Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching +Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref OMIM:615861 semapv:UnspecifiedMatching Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref UMLS:C0403396 semapv:UnspecifiedMatching +Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref icd11:GB41 semapv:UnspecifiedMatching Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref ICD10:P96.0 semapv:UnspecifiedMatching Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref ICD10:P96.0 semapv:UnspecifiedMatching Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref UMLS:C4511239 semapv:UnspecifiedMatching +Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref icd11:GB41 semapv:UnspecifiedMatching Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref MedDRA:10073689 semapv:UnspecifiedMatching @@ -28795,16 +33607,22 @@ Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref OMIM:233100 semapv:U Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref UMLS:C3245525 semapv:UnspecifiedMatching Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref icd11:5C61.5 semapv:UnspecifiedMatching Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref MESH:D018335 semapv:UnspecifiedMatching Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref MedDRA:10073334 semapv:UnspecifiedMatching Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref UMLS:C0206743 semapv:UnspecifiedMatching Orphanet:69078 Liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:69078 Liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching Orphanet:69078 Liposarcoma oboInOwl:hasDbXref MedDRA:10024627 semapv:UnspecifiedMatching Orphanet:69078 Liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching Orphanet:69078 Liposarcoma oboInOwl:hasDbXref UMLS:C0023827 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref icd11:2B59 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref icd11:2B59.0 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref icd11:2B59.1 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref icd11:2B59.2 semapv:UnspecifiedMatching Orphanet:69078 Liposarcoma oboInOwl:hasDbXref icd11:2B59.Y semapv:UnspecifiedMatching Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching @@ -28819,6 +33637,7 @@ Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:ha Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref UMLS:C1832444 semapv:UnspecifiedMatching Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref MESH:C566592 semapv:UnspecifiedMatching Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:602032 semapv:UnspecifiedMatching Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614927 semapv:UnspecifiedMatching @@ -28840,6 +33659,7 @@ Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM: Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS:C0343111 semapv:UnspecifiedMatching Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C4303737 semapv:UnspecifiedMatching @@ -28856,6 +33676,7 @@ Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref MESH:C536253 semapv:UnspecifiedM Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref MedDRA:10072222 semapv:UnspecifiedMatching Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref OMIM:604416 semapv:UnspecifiedMatching Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref UMLS:C1858361 semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref icd11:4A60.Y semapv:UnspecifiedMatching Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency oboInOwl:hasDbXref ICD10:D80.2 semapv:UnspecifiedMatching Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency oboInOwl:hasDbXref ICD10:D80.2 semapv:UnspecifiedMatching Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching @@ -28863,6 +33684,7 @@ Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref ICD Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref MedDRA:10068936 semapv:UnspecifiedMatching Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref OMIM:600803 semapv:UnspecifiedMatching Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref UMLS:C2609268 semapv:UnspecifiedMatching +Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref icd11:DC11.Y semapv:UnspecifiedMatching Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 semapv:UnspecifiedMatching @@ -28883,24 +33705,32 @@ Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome obo Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref UMLS:C4304058 semapv:UnspecifiedMatching +Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref icd11:9A90.1 semapv:UnspecifiedMatching Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref UMLS:C1832216 semapv:UnspecifiedMatching +Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1832215 semapv:UnspecifiedMatching +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:69744 Circumscribed palmoplantar hypokeratosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:69744 Circumscribed palmoplantar hypokeratosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:69744 Circumscribed palmoplantar hypokeratosis oboInOwl:hasDbXref UMLS:C0406762 semapv:UnspecifiedMatching Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref MedDRA:10068856 semapv:UnspecifiedMatching Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref UMLS:C0334063 semapv:UnspecifiedMatching Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref icd11:2F21.Y semapv:UnspecifiedMatching +Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref icd11:XH65S7 semapv:UnspecifiedMatching +Orphanet:699 Pearson syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:699 Pearson syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:699 Pearson syndrome oboInOwl:hasDbXref MedDRA:10062941 semapv:UnspecifiedMatching Orphanet:699 Pearson syndrome oboInOwl:hasDbXref OMIM:557000 semapv:UnspecifiedMatching Orphanet:699 Pearson syndrome oboInOwl:hasDbXref UMLS:C0342784 semapv:UnspecifiedMatching +Orphanet:699 Pearson syndrome oboInOwl:hasDbXref icd11:3A72.01 semapv:UnspecifiedMatching Orphanet:7 3C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:7 3C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:7 3C syndrome oboInOwl:hasDbXref MESH:C535313 semapv:UnspecifiedMatching @@ -28926,6 +33756,7 @@ Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedM Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:300042 semapv:UnspecifiedMatching Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching Orphanet:700 Alopecia totalis oboInOwl:hasDbXref UMLS:C0263504 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref icd11:ED70.21 semapv:UnspecifiedMatching Orphanet:701 Alopecia universalis oboInOwl:hasDbXref ICD10:L63.1 semapv:UnspecifiedMatching Orphanet:701 Alopecia universalis oboInOwl:hasDbXref ICD10:L63.1 semapv:UnspecifiedMatching Orphanet:701 Alopecia universalis oboInOwl:hasDbXref MESH:C537055 semapv:UnspecifiedMatching @@ -28936,6 +33767,7 @@ Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:610753 semapv:Unspecif Orphanet:701 Alopecia universalis oboInOwl:hasDbXref UMLS:C0263505 semapv:UnspecifiedMatching Orphanet:701 Alopecia universalis oboInOwl:hasDbXref icd11:ED70.2Y semapv:UnspecifiedMatching Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MedDRA:10067610 semapv:UnspecifiedMatching Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:213900 semapv:UnspecifiedMatching @@ -28960,12 +33792,14 @@ Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:220111 semapv:UnspecifiedMatching Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:619065 semapv:UnspecifiedMatching Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref UMLS:C1857355 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618252 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref UMLS:C5680116 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref MedDRA:10037766 semapv:UnspecifiedMatching @@ -28975,6 +33809,7 @@ Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10081000 semapv:UnspecifiedMatching Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0022577 semapv:UnspecifiedMatching +Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref icd11:9A60.5 semapv:UnspecifiedMatching Orphanet:70482 Carcinoma of esophagus oboInOwl:hasDbXref MedDRA:10030155 semapv:UnspecifiedMatching Orphanet:70482 Carcinoma of esophagus oboInOwl:hasDbXref UMLS:C0152018 semapv:UnspecifiedMatching Orphanet:705 Pendred syndrome oboInOwl:hasDbXref ICD10:E07.1 semapv:UnspecifiedMatching @@ -28983,7 +33818,10 @@ Orphanet:705 Pendred syndrome oboInOwl:hasDbXref MESH:C536648 semapv:Unspecified Orphanet:705 Pendred syndrome oboInOwl:hasDbXref MedDRA:10080398 semapv:UnspecifiedMatching Orphanet:705 Pendred syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching Orphanet:705 Pendred syndrome oboInOwl:hasDbXref UMLS:C0271829 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref icd11:5A00.02 semapv:UnspecifiedMatching Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching @@ -29003,6 +33841,7 @@ Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref ICD10:C34.9 semapv:Unsp Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref MedDRA:10041067 semapv:UnspecifiedMatching Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref OMIM:182280 semapv:UnspecifiedMatching Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref UMLS:C0149925 semapv:UnspecifiedMatching +Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref icd11:2C25.1 semapv:UnspecifiedMatching Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:J80 semapv:UnspecifiedMatching Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:J80 semapv:UnspecifiedMatching Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C5680115 semapv:UnspecifiedMatching @@ -29013,12 +33852,15 @@ Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref MES Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref MedDRA:10028974 semapv:UnspecifiedMatching Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref OMIM:267450 semapv:UnspecifiedMatching Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0035220 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref icd11:KB23.0 semapv:UnspecifiedMatching +Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref ICD10:P24.0 semapv:UnspecifiedMatching Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref ICD10:P24.0 semapv:UnspecifiedMatching Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MedDRA:10076496 semapv:UnspecifiedMatching Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref UMLS:C0025048 semapv:UnspecifiedMatching Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref icd11:KB26.0 semapv:UnspecifiedMatching Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10:P27.1 semapv:UnspecifiedMatching +Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10:P27.1 semapv:UnspecifiedMatching Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MESH:D001997 semapv:UnspecifiedMatching Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MedDRA:10006475 semapv:UnspecifiedMatching Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref UMLS:C0006287 semapv:UnspecifiedMatching @@ -29033,6 +33875,7 @@ Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref MedDRA:10068739 semapv:UnspecifiedMatching Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref OMIM:612862 semapv:UnspecifiedMatching Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref UMLS:C2363973 semapv:UnspecifiedMatching +Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref icd11:BB01.3 semapv:UnspecifiedMatching Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref MESH:C564352 semapv:UnspecifiedMatching @@ -29040,7 +33883,9 @@ Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase- Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref UMLS:C1843256 semapv:UnspecifiedMatching Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref UMLS:C0398712 semapv:UnspecifiedMatching +Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref icd11:4A01.02 semapv:UnspecifiedMatching Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref MESH:C562657 semapv:UnspecifiedMatching @@ -29048,6 +33893,7 @@ Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS:C0268468 semapv:UnspecifiedMatching Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref MESH:C537583 semapv:UnspecifiedMatching Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref UMLS:C1843851 semapv:UnspecifiedMatching @@ -29055,6 +33901,8 @@ Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ob Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref UMLS:C4274357 semapv:UnspecifiedMatching +Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref icd11:KA62.1 semapv:UnspecifiedMatching +Orphanet:706 NON RARE IN EUROPE: Patent arterial duct oboInOwl:hasDbXref ICD10:Q25.0 semapv:UnspecifiedMatching Orphanet:706 NON RARE IN EUROPE: Patent arterial duct oboInOwl:hasDbXref ICD10:Q25.0 semapv:UnspecifiedMatching Orphanet:706 NON RARE IN EUROPE: Patent arterial duct oboInOwl:hasDbXref MedDRA:10034130 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.0 semapv:UnspecifiedMatching @@ -29062,9 +33910,13 @@ Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.0 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.1 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.1 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.2 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.2 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.3 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.3 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.7 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.7 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.8 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.8 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.9 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.9 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching @@ -29072,20 +33924,24 @@ Orphanet:707 Plague oboInOwl:hasDbXref MedDRA:10035148 semapv:UnspecifiedMatchin Orphanet:707 Plague oboInOwl:hasDbXref UMLS:C0032064 semapv:UnspecifiedMatching Orphanet:707 Plague oboInOwl:hasDbXref icd11:1B93 semapv:UnspecifiedMatching Orphanet:708 Peters anomaly oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching Orphanet:708 Peters anomaly oboInOwl:hasDbXref MESH:C537884 semapv:UnspecifiedMatching Orphanet:708 Peters anomaly oboInOwl:hasDbXref MedDRA:10059202 semapv:UnspecifiedMatching Orphanet:708 Peters anomaly oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching Orphanet:708 Peters anomaly oboInOwl:hasDbXref OMIM:612968 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref icd11:9C61.42 semapv:UnspecifiedMatching Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref MESH:C537617 semapv:UnspecifiedMatching Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref OMIM:261540 semapv:UnspecifiedMatching Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref UMLS:C0796012 semapv:UnspecifiedMatching +Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref MESH:C535460 semapv:UnspecifiedMatching Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref OMIM:246700 semapv:UnspecifiedMatching Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref UMLS:C0795956 semapv:UnspecifiedMatching +Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref icd11:5C81.1 semapv:UnspecifiedMatching Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref MESH:C538582 semapv:UnspecifiedMatching @@ -29099,8 +33955,10 @@ Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboIn Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref UMLS:C2752015 semapv:UnspecifiedMatching Orphanet:71198 Rare pulmonary hypertension oboInOwl:hasDbXref UMLS:C5681268 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref UMLS:C5680791 semapv:UnspecifiedMatching +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly oboInOwl:hasDbXref UMLS:C5680114 semapv:UnspecifiedMatching Orphanet:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref MedDRA:10050245 semapv:UnspecifiedMatching Orphanet:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C0242584 semapv:UnspecifiedMatching @@ -29110,20 +33968,28 @@ Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref ICD10:G Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MESH:D009471 semapv:UnspecifiedMatching Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MedDRA:10029322 semapv:UnspecifiedMatching Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref UMLS:C0027873 semapv:UnspecifiedMatching +Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref icd11:8A43 semapv:UnspecifiedMatching +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231530 semapv:UnspecifiedMatching Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609975 semapv:UnspecifiedMatching Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C4303473 semapv:UnspecifiedMatching +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref UMLS:C5681267 semapv:UnspecifiedMatching +Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref icd11:LD23 semapv:UnspecifiedMatching Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4303592 semapv:UnspecifiedMatching +Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref MESH:C565647 semapv:UnspecifiedMatching Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref UMLS:C1857344 semapv:UnspecifiedMatching +Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref MESH:C537234 semapv:UnspecifiedMatching Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref MedDRA:10066142 semapv:UnspecifiedMatching @@ -29133,6 +33999,7 @@ Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref ICD10:Q27.8 semapv:U Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref MESH:D059228 semapv:UnspecifiedMatching Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref UMLS:C3178770 semapv:UnspecifiedMatching Orphanet:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref ICD10:D20.1 semapv:UnspecifiedMatching +Orphanet:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref ICD10:D20.1 semapv:UnspecifiedMatching Orphanet:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref UMLS:C0267785 semapv:UnspecifiedMatching Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching @@ -29140,10 +34007,13 @@ Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref MESH:C562717 semapv:Uns Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:268150 semapv:UnspecifiedMatching Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:617970 semapv:UnspecifiedMatching Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref UMLS:C0272052 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching +Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref UMLS:C3698095 semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref icd11:CA0B semapv:UnspecifiedMatching Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref OMIM:606777 semapv:UnspecifiedMatching Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref UMLS:C1847501 semapv:UnspecifiedMatching Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref icd11:5C61.5 semapv:UnspecifiedMatching @@ -29151,6 +34021,7 @@ Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficienc Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref OMIM:610015 semapv:UnspecifiedMatching Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref UMLS:C5680112 semapv:UnspecifiedMatching +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref icd11:5C50.Y semapv:UnspecifiedMatching Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref MESH:C537980 semapv:UnspecifiedMatching @@ -29159,9 +34030,11 @@ Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref UMLS:C2931684 semapv:Unspecif Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching Orphanet:71281 Rare central nervous system and retinal vascular disease oboInOwl:hasDbXref UMLS:C5681266 semapv:UnspecifiedMatching Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:605432 semapv:UnspecifiedMatching Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:616738 semapv:UnspecifiedMatching Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C4303670 semapv:UnspecifiedMatching +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref icd11:3B64.01 semapv:UnspecifiedMatching Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref MESH:C563324 semapv:UnspecifiedMatching @@ -29171,12 +34044,15 @@ Orphanet:71290 Familial platelet disorder with associated myeloid malignancy obo Orphanet:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS:C5568976 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C5680790 semapv:UnspecifiedMatching +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching @@ -29185,20 +34061,24 @@ Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:614521 semapv:Uns Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref UMLS:C4303761 semapv:UnspecifiedMatching Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref icd11:3B63.0 semapv:UnspecifiedMatching Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref MESH:C564485 semapv:UnspecifiedMatching Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:300559 semapv:UnspecifiedMatching Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C1845151 semapv:UnspecifiedMatching Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref MESH:D059545 semapv:UnspecifiedMatching Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref MedDRA:10065311 semapv:UnspecifiedMatching Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref UMLS:C0730307 semapv:UnspecifiedMatching +Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref icd11:9B71.4 semapv:UnspecifiedMatching Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref MESH:C538001 semapv:UnspecifiedMatching Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref MedDRA:10083658 semapv:UnspecifiedMatching Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:128235 semapv:UnspecifiedMatching Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1868681 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref icd11:8A02.12 semapv:UnspecifiedMatching Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref ICD10:G24.3 semapv:UnspecifiedMatching Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref ICD10:G24.3 semapv:UnspecifiedMatching Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref UMLS:C3494934 semapv:UnspecifiedMatching @@ -29207,6 +34087,7 @@ Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref ICD10:F44.4 sem Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref ICD10:F44.4 semapv:UnspecifiedMatching Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref MedDRA:10072376 semapv:UnspecifiedMatching Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref UMLS:C0752208 semapv:UnspecifiedMatching +Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref icd11:8A0Y semapv:UnspecifiedMatching Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref MESH:C565726 semapv:UnspecifiedMatching @@ -29239,6 +34120,7 @@ Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semap Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref MESH:D010855 semapv:UnspecifiedMatching Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref OMIM:261800 semapv:UnspecifiedMatching Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C0031900 semapv:UnspecifiedMatching +Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref icd11:LA56 semapv:UnspecifiedMatching Orphanet:71859 Rare genetic neurological disorder oboInOwl:hasDbXref UMLS:C5681307 semapv:UnspecifiedMatching Orphanet:71862 Inherited retinal disorder oboInOwl:hasDbXref MESH:D058499 semapv:UnspecifiedMatching Orphanet:71862 Inherited retinal disorder oboInOwl:hasDbXref MedDRA:10038857 semapv:UnspecifiedMatching @@ -29252,27 +34134,35 @@ Orphanet:72 Angelman syndrome oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedM Orphanet:72 Angelman syndrome oboInOwl:hasDbXref UMLS:C0162635 semapv:UnspecifiedMatching Orphanet:72 Angelman syndrome oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching Orphanet:720 Pili bifurcati oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:720 Pili bifurcati oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:720 Pili bifurcati oboInOwl:hasDbXref UMLS:C5574653 semapv:UnspecifiedMatching +Orphanet:720 Pili bifurcati oboInOwl:hasDbXref icd11:ED73.Y semapv:UnspecifiedMatching Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref icd11:3B62.00 semapv:UnspecifiedMatching Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref OMIM:217090 semapv:UnspecifiedMatching Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref UMLS:C0398621 semapv:UnspecifiedMatching +Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref icd11:DA0D.3 semapv:UnspecifiedMatching Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:B48.5+ semapv:UnspecifiedMatching Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:B48.5+ semapv:UnspecifiedMatching Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:J17.2* semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:J17.2* semapv:UnspecifiedMatching Orphanet:723 Pneumocystosis oboInOwl:hasDbXref MESH:D011020 semapv:UnspecifiedMatching Orphanet:723 Pneumocystosis oboInOwl:hasDbXref MedDRA:10035662 semapv:UnspecifiedMatching Orphanet:723 Pneumocystosis oboInOwl:hasDbXref UMLS:C1535939 semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref icd11:1F2G semapv:UnspecifiedMatching +Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C4518469 semapv:UnspecifiedMatching Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref icd11:CB02.10 semapv:UnspecifiedMatching Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref MedDRA:10078827 semapv:UnspecifiedMatching Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref UMLS:C5552731 semapv:UnspecifiedMatching @@ -29284,6 +34174,7 @@ Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv: Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS:C0205710 semapv:UnspecifiedMatching Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref ICD10:M31.7 semapv:UnspecifiedMatching +Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref ICD10:M31.7 semapv:UnspecifiedMatching Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref MESH:D055953 semapv:UnspecifiedMatching Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref MedDRA:10063344 semapv:UnspecifiedMatching Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref UMLS:C2347126 semapv:UnspecifiedMatching @@ -29295,10 +34186,13 @@ Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref MedDRA:10038304 semapv: Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref UMLS:C0032453 semapv:UnspecifiedMatching Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref icd11:FB82.3 semapv:UnspecifiedMatching Orphanet:729 Polycythemia vera oboInOwl:hasDbXref ICD10:D45 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref ICD10:D45 semapv:UnspecifiedMatching Orphanet:729 Polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching Orphanet:729 Polycythemia vera oboInOwl:hasDbXref MedDRA:10036057 semapv:UnspecifiedMatching Orphanet:729 Polycythemia vera oboInOwl:hasDbXref OMIM:263300 semapv:UnspecifiedMatching Orphanet:729 Polycythemia vera oboInOwl:hasDbXref UMLS:C0032463 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref icd11:2A20.4 semapv:UnspecifiedMatching +Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref MedDRA:10071283 semapv:UnspecifiedMatching Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref OMIM:123880 semapv:UnspecifiedMatching @@ -29314,6 +34208,7 @@ Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMI Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:618061 semapv:UnspecifiedMatching Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:620056 semapv:UnspecifiedMatching Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085413 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref icd11:GB81 semapv:UnspecifiedMatching Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.1 semapv:UnspecifiedMatching Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.1 semapv:UnspecifiedMatching Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 semapv:UnspecifiedMatching @@ -29331,6 +34226,7 @@ Orphanet:732 Polymyositis oboInOwl:hasDbXref icd11:4A41.1 semapv:UnspecifiedMatc Orphanet:73217 Müllerian aplasia oboInOwl:hasDbXref MESH:C537371 semapv:UnspecifiedMatching Orphanet:73217 Müllerian aplasia oboInOwl:hasDbXref UMLS:C0431637 semapv:UnspecifiedMatching Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -29339,6 +34235,7 @@ Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDb Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C4304399 semapv:UnspecifiedMatching Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref ICD10:I99 semapv:UnspecifiedMatching +Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref ICD10:I99 semapv:UnspecifiedMatching Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref MESH:C567088 semapv:UnspecifiedMatching Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref OMIM:611773 semapv:UnspecifiedMatching Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref UMLS:C2673195 semapv:UnspecifiedMatching @@ -29354,21 +34251,34 @@ Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmen Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4304402 semapv:UnspecifiedMatching Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching +Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching +Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref icd11:DA24.1 semapv:UnspecifiedMatching +Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref UMLS:C0206719 semapv:UnspecifiedMatching +Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref icd11:2A00.3 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.0 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.0 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.7 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.7 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.8 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.8 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.9 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.9 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MedDRA:10061906 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref UMLS:C0030409 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref icd11:1F2E semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref icd11:1F2E.0 semapv:UnspecifiedMatching Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref icd11:1F2E.1 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref icd11:1F2E.Y semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.0 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.0 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.1 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.1 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.2 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.2 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.3 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.3 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.4 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.4 semapv:UnspecifiedMatching @@ -29381,6 +34291,7 @@ Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.9 semapv:UnspecifiedMatc Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MESH:D020096 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MedDRA:10061418 semapv:UnspecifiedMatching Orphanet:73263 Zygomycosis oboInOwl:hasDbXref UMLS:C0043541 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref icd11:1F2C semapv:UnspecifiedMatching Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref UMLS:C5545668 semapv:UnspecifiedMatching @@ -29390,16 +34301,19 @@ Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:has Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref UMLS:C5190736 semapv:UnspecifiedMatching +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref MESH:C563867 semapv:UnspecifiedMatching Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref OMIM:608747 semapv:UnspecifiedMatching Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref UMLS:C1837475 semapv:UnspecifiedMatching +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref MESH:C564816 semapv:UnspecifiedMatching Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref OMIM:270450 semapv:UnspecifiedMatching Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref UMLS:C1849157 semapv:UnspecifiedMatching +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref MESH:D011125 semapv:UnspecifiedMatching @@ -29409,19 +34323,24 @@ Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semap Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C0032580 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref OMIM:185050 semapv:UnspecifiedMatching Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref UMLS:C5680090 semapv:UnspecifiedMatching Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref icd11:3B62.4 semapv:UnspecifiedMatching Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching +Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref UMLS:C0274888 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175800 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref UMLS:C0949506 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref icd11:ED52 semapv:UnspecifiedMatching Orphanet:736 Palmoplantar porokeratosis of Mantoux oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:736 Palmoplantar porokeratosis of Mantoux oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref OMIM:175850 semapv:UnspecifiedMatching Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref UMLS:C0162838 semapv:UnspecifiedMatching @@ -29433,12 +34352,15 @@ Orphanet:738 Porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:738 Porphyria oboInOwl:hasDbXref MESH:D011164 semapv:UnspecifiedMatching Orphanet:738 Porphyria oboInOwl:hasDbXref MedDRA:10036181 semapv:UnspecifiedMatching Orphanet:738 Porphyria oboInOwl:hasDbXref UMLS:C0032708 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref icd11:5C58.1 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:UnspecifiedMatching Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref MedDRA:10036476 semapv:UnspecifiedMatching Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref UMLS:C0032897 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B81.3 semapv:UnspecifiedMatching Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B81.3 semapv:UnspecifiedMatching Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B83.2 semapv:UnspecifiedMatching @@ -29448,12 +34370,15 @@ Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref MedDRA:10069517 semapv:Unspeci Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref UMLS:C0392662 semapv:UnspecifiedMatching Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref icd11:1F60 semapv:UnspecifiedMatching Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref icd11:1F60.0 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref icd11:1F60.1 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref icd11:1F60.Y semapv:UnspecifiedMatching Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MESH:D011371 semapv:UnspecifiedMatching Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MedDRA:10036794 semapv:UnspecifiedMatching Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref OMIM:176670 semapv:UnspecifiedMatching Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref UMLS:C0033300 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref ICD10:I34.1 semapv:UnspecifiedMatching Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref ICD10:I34.1 semapv:UnspecifiedMatching Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:157700 semapv:UnspecifiedMatching @@ -29472,10 +34397,12 @@ Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficie Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:614514 semapv:UnspecifiedMatching Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching Orphanet:744 Proteus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:744 Proteus syndrome oboInOwl:hasDbXref MESH:D016715 semapv:UnspecifiedMatching Orphanet:744 Proteus syndrome oboInOwl:hasDbXref MedDRA:10074067 semapv:UnspecifiedMatching Orphanet:744 Proteus syndrome oboInOwl:hasDbXref OMIM:176920 semapv:UnspecifiedMatching Orphanet:744 Proteus syndrome oboInOwl:hasDbXref UMLS:C0085261 semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:176860 semapv:UnspecifiedMatching @@ -29483,9 +34410,12 @@ Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficie Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref UMLS:C5679824 semapv:UnspecifiedMatching Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:C566945 semapv:UnspecifiedMatching Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 semapv:UnspecifiedMatching +Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching +Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610910 semapv:UnspecifiedMatching Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C1970472 semapv:UnspecifiedMatching @@ -29496,6 +34426,7 @@ Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref ICD10:D68.8 Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref MESH:C562725 semapv:UnspecifiedMatching Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref OMIM:612423 semapv:UnspecifiedMatching Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref UMLS:C0272339 semapv:UnspecifiedMatching +Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref icd11:3B15 semapv:UnspecifiedMatching Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 semapv:UnspecifiedMatching @@ -29503,13 +34434,18 @@ Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 semapv:Unspecif Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref UMLS:C0410538 semapv:UnspecifiedMatching Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref icd11:LD24.60 semapv:UnspecifiedMatching Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref MedDRA:10028586 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref UMLS:C0027030 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.0 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.1 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.2 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.Y semapv:UnspecifiedMatching Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref MESH:C537805 semapv:UnspecifiedMatching @@ -29522,11 +34458,13 @@ Orphanet:75233 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:Unspecified Orphanet:75233 Wolman disease oboInOwl:hasDbXref MedDRA:10053687 semapv:UnspecifiedMatching Orphanet:75233 Wolman disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching Orphanet:75233 Wolman disease oboInOwl:hasDbXref UMLS:C0043208 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref MESH:D015217 semapv:UnspecifiedMatching Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref UMLS:C0008384 semapv:UnspecifiedMatching +Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref ICD10:I42.5 semapv:UnspecifiedMatching Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref ICD10:I42.5 semapv:UnspecifiedMatching Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching @@ -29536,6 +34474,7 @@ Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref O Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:617047 semapv:UnspecifiedMatching Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:619433 semapv:UnspecifiedMatching Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C5680139 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref icd11:BC43.2Y semapv:UnspecifiedMatching Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref MESH:C535830 semapv:UnspecifiedMatching @@ -29544,6 +34483,7 @@ Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 defi Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref UMLS:C0268297 semapv:UnspecifiedMatching Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref MESH:C536064 semapv:UnspecifiedMatching Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref OMIM:609993 semapv:UnspecifiedMatching Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref UMLS:C4302815 semapv:UnspecifiedMatching @@ -29555,11 +34495,13 @@ Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 s Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 semapv:UnspecifiedMatching Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref OMIM:136550 semapv:UnspecifiedMatching Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS:C0730294 semapv:UnspecifiedMatching +Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref icd11:9B75.Y semapv:UnspecifiedMatching Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref MESH:C535356 semapv:UnspecifiedMatching Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref OMIM:600790 semapv:UnspecifiedMatching Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1833321 semapv:UnspecifiedMatching +Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:75374 Bradyopsia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:75374 Bradyopsia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:75374 Bradyopsia oboInOwl:hasDbXref MESH:C564243 semapv:UnspecifiedMatching @@ -29572,6 +34514,7 @@ Orphanet:75376 Familial drusen oboInOwl:hasDbXref MESH:C535602 semapv:Unspecifie Orphanet:75376 Familial drusen oboInOwl:hasDbXref OMIM:126600 semapv:UnspecifiedMatching Orphanet:75376 Familial drusen oboInOwl:hasDbXref OMIM:126700 semapv:UnspecifiedMatching Orphanet:75376 Familial drusen oboInOwl:hasDbXref UMLS:C1832174 semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref MESH:C535358 semapv:UnspecifiedMatching @@ -29579,8 +34522,11 @@ Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:21550 Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613105 semapv:UnspecifiedMatching Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613144 semapv:UnspecifiedMatching Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref UMLS:C1536451 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref icd11:9B61 semapv:UnspecifiedMatching +Orphanet:75378 Oligocone trichromacy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:75378 Oligocone trichromacy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:75378 Oligocone trichromacy oboInOwl:hasDbXref UMLS:C4302876 semapv:UnspecifiedMatching +Orphanet:75378 Oligocone trichromacy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref OMIM:153880 semapv:UnspecifiedMatching @@ -29591,6 +34537,7 @@ Orphanet:75382 Oguchi disease oboInOwl:hasDbXref MESH:C537743 semapv:Unspecified Orphanet:75382 Oguchi disease oboInOwl:hasDbXref OMIM:258100 semapv:UnspecifiedMatching Orphanet:75382 Oguchi disease oboInOwl:hasDbXref OMIM:613411 semapv:UnspecifiedMatching Orphanet:75382 Oguchi disease oboInOwl:hasDbXref UMLS:C1306122 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C4303545 semapv:UnspecifiedMatching @@ -29604,6 +34551,7 @@ Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C56262 Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130080 semapv:UnspecifiedMatching Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617174 semapv:UnspecifiedMatching Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268347 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv:UnspecifiedMatching @@ -29615,11 +34563,14 @@ Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOw Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536201 semapv:UnspecifiedMatching Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130070 semapv:UnspecifiedMatching Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5680137 semapv:UnspecifiedMatching +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536197 semapv:UnspecifiedMatching Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268341 semapv:UnspecifiedMatching +Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref MESH:C562567 semapv:UnspecifiedMatching Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref MedDRA:10024406 semapv:UnspecifiedMatching @@ -29627,11 +34578,15 @@ Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref OMIM:238320 semapv:Unspec Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref UMLS:C0860158 semapv:UnspecifiedMatching Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching Orphanet:75508 Angioosteohypotrophic syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:75508 Angioosteohypotrophic syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:75508 Angioosteohypotrophic syndrome oboInOwl:hasDbXref UMLS:C4707561 semapv:UnspecifiedMatching Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref MESH:C536761 semapv:UnspecifiedMatching Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref OMIM:300751 semapv:UnspecifiedMatching Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref UMLS:C4551511 semapv:UnspecifiedMatching +Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref icd11:3A72.00 semapv:UnspecifiedMatching +Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.3 semapv:UnspecifiedMatching Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.3 semapv:UnspecifiedMatching Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref UMLS:C4016601 semapv:UnspecifiedMatching Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref icd11:2A33 semapv:UnspecifiedMatching @@ -29647,6 +34602,7 @@ Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref icd11:BC43.20 semapv:Uns Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref UMLS:C4275078 semapv:UnspecifiedMatching +Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref icd11:8A0Y semapv:UnspecifiedMatching Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching @@ -29663,14 +34619,19 @@ Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614496 semap Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref UMLS:C1449844 semapv:UnspecifiedMatching Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching Orphanet:75789 SIBIDS syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:75789 SIBIDS syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MedDRA:10037150 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:177850 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C0033847 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref icd11:EC40 semapv:UnspecifiedMatching +Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref OMIM:616470 semapv:UnspecifiedMatching @@ -29685,8 +34646,11 @@ Orphanet:75858 MORM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMa Orphanet:75858 MORM syndrome oboInOwl:hasDbXref MESH:C536984 semapv:UnspecifiedMatching Orphanet:75858 MORM syndrome oboInOwl:hasDbXref OMIM:610156 semapv:UnspecifiedMatching Orphanet:75858 MORM syndrome oboInOwl:hasDbXref UMLS:C1857802 semapv:UnspecifiedMatching +Orphanet:75858 MORM syndrome oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:759 NON RARE IN EUROPE: Central precocious puberty oboInOwl:hasDbXref icd11:5A60.3 semapv:UnspecifiedMatching Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.0 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.0 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.1 semapv:UnspecifiedMatching Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.1 semapv:UnspecifiedMatching Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.7 semapv:UnspecifiedMatching Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.7 semapv:UnspecifiedMatching @@ -29697,10 +34661,13 @@ Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref MedDRA:10042254 semapv:Unspecifi Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref UMLS:C0038463 semapv:UnspecifiedMatching Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref icd11:1F6B semapv:UnspecifiedMatching Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10:D81.5 semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10:D81.5 semapv:UnspecifiedMatching Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref MESH:C562587 semapv:UnspecifiedMatching Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10086665 semapv:UnspecifiedMatching Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref OMIM:613179 semapv:UnspecifiedMatching Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0268125 semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref ICD10:D69.0 semapv:UnspecifiedMatching Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref ICD10:D69.0 semapv:UnspecifiedMatching Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref MESH:D011695 semapv:UnspecifiedMatching Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref MedDRA:10082960 semapv:UnspecifiedMatching @@ -29712,10 +34679,14 @@ Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref MESH:D058631 semapv:UnspecifiedM Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref MedDRA:10082973 semapv:UnspecifiedMatching Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref OMIM:265800 semapv:UnspecifiedMatching Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref UMLS:C0238402 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref icd11:5C56.Y semapv:UnspecifiedMatching +Orphanet:764 Pyomyositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:764 Pyomyositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching Orphanet:764 Pyomyositis oboInOwl:hasDbXref MESH:D052880 semapv:UnspecifiedMatching Orphanet:764 Pyomyositis oboInOwl:hasDbXref MedDRA:10037652 semapv:UnspecifiedMatching Orphanet:764 Pyomyositis oboInOwl:hasDbXref UMLS:C0041188 semapv:UnspecifiedMatching +Orphanet:764 Pyomyositis oboInOwl:hasDbXref icd11:FB30 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MESH:D015325 semapv:UnspecifiedMatching Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10084109 semapv:UnspecifiedMatching @@ -29726,15 +34697,19 @@ Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:312170 se Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0034345 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref MESH:C564858 semapv:UnspecifiedMatching Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref OMIM:266200 semapv:UnspecifiedMatching Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref UMLS:C0340968 semapv:UnspecifiedMatching +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref MESH:D010488 semapv:UnspecifiedMatching Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref MedDRA:10036024 semapv:UnspecifiedMatching Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0031036 semapv:UnspecifiedMatching +Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref icd11:4A44.4 semapv:UnspecifiedMatching Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref MedDRA:10057926 semapv:UnspecifiedMatching Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching @@ -29754,6 +34729,7 @@ Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:616247 semapv:Uns Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref UMLS:C1141890 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref OMIM:262190 semapv:UnspecifiedMatching @@ -29764,11 +34740,13 @@ Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.0 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.1 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.1 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.9 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.9 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref MESH:D011818 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref MedDRA:10037742 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref UMLS:C0034494 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref icd11:1C82 semapv:UnspecifiedMatching Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.0 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.0 semapv:UnspecifiedMatching Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.3 semapv:UnspecifiedMatching @@ -29780,6 +34758,7 @@ Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51 Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching @@ -29793,64 +34772,86 @@ Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614885 semapv:Unsp Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching Orphanet:77240 Primary lymphedema oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref OMIM:614103 semapv:UnspecifiedMatching Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref OMIM:190350 semapv:UnspecifiedMatching Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref OMIM:190351 semapv:UnspecifiedMatching Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref MedDRA:10075697 semapv:UnspecifiedMatching Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref UMLS:C1961835 semapv:UnspecifiedMatching +Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref MedDRA:10075698 semapv:UnspecifiedMatching Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref UMLS:C0268250 semapv:UnspecifiedMatching +Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref MedDRA:10075699 semapv:UnspecifiedMatching Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref UMLS:C0268251 semapv:UnspecifiedMatching +Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MESH:D052536 semapv:UnspecifiedMatching Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref OMIM:257200 semapv:UnspecifiedMatching Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C0268242 semapv:UnspecifiedMatching +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MESH:D052537 semapv:UnspecifiedMatching Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref OMIM:607616 semapv:UnspecifiedMatching Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C0268243 semapv:UnspecifiedMatching +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching +Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref MESH:C564344 semapv:UnspecifiedMatching Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref UMLS:C3502054 semapv:UnspecifiedMatching +Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref icd11:8A44 semapv:UnspecifiedMatching Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref MESH:D006957 semapv:UnspecifiedMatching Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref MedDRA:10081545 semapv:UnspecifiedMatching Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref OMIM:144800 semapv:UnspecifiedMatching Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref UMLS:C0020494 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref icd11:FB80.3 semapv:UnspecifiedMatching Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref MESH:C537839 semapv:UnspecifiedMatching Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref MedDRA:10072223 semapv:UnspecifiedMatching Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref OMIM:609628 semapv:UnspecifiedMatching Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref UMLS:C1864997 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref icd11:4A00.Y semapv:UnspecifiedMatching Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref MESH:C565948 semapv:UnspecifiedMatching Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref OMIM:206900 semapv:UnspecifiedMatching Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref UMLS:C1859773 semapv:UnspecifiedMatching +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching +Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref MESH:C566985 semapv:UnspecifiedMatching Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref OMIM:611222 semapv:UnspecifiedMatching Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref UMLS:C1970013 semapv:UnspecifiedMatching +Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:773 Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:773 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatching Orphanet:773 Refsum disease oboInOwl:hasDbXref MedDRA:10038275 semapv:UnspecifiedMatching Orphanet:773 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching Orphanet:773 Refsum disease oboInOwl:hasDbXref OMIM:614879 semapv:UnspecifiedMatching Orphanet:773 Refsum disease oboInOwl:hasDbXref UMLS:C0034960 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref UMLS:C4518478 semapv:UnspecifiedMatching @@ -29872,6 +34873,7 @@ Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:60110 Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:610655 semapv:UnspecifiedMatching Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:615506 semapv:UnspecifiedMatching Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS:C0039445 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref icd11:LA90.00 semapv:UnspecifiedMatching Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref MESH:C537724 semapv:UnspecifiedMatching @@ -29925,20 +34927,27 @@ Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref O Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:309530 semapv:UnspecifiedMatching Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:309549 semapv:UnspecifiedMatching Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C2931498 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching Orphanet:778 Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching Orphanet:778 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching Orphanet:778 Rett syndrome oboInOwl:hasDbXref MedDRA:10039000 semapv:UnspecifiedMatching Orphanet:778 Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching Orphanet:778 Rett syndrome oboInOwl:hasDbXref UMLS:C0035372 semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref icd11:LD90.4 semapv:UnspecifiedMatching Orphanet:77828 Genetic obesity oboInOwl:hasDbXref UMLS:C5681294 semapv:UnspecifiedMatching Orphanet:77830 Rare genetic odontologic disease oboInOwl:hasDbXref UMLS:C5681298 semapv:UnspecifiedMatching Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref MedDRA:10070953 semapv:UnspecifiedMatching Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref OMIM:613471 semapv:UnspecifiedMatching Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref UMLS:C0748397 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref icd11:4A43.Y semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.0 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.0 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.1 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.1 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.8 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.8 semapv:UnspecifiedMatching @@ -29947,20 +34956,28 @@ Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMat Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D000724 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10002255 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref UMLS:C0002831 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.0 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.1 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.2 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10039022 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0035412 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55.0 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55.1 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55.2 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching Orphanet:781 Q fever oboInOwl:hasDbXref ICD10:A78 semapv:UnspecifiedMatching Orphanet:781 Q fever oboInOwl:hasDbXref ICD10:A78 semapv:UnspecifiedMatching Orphanet:781 Q fever oboInOwl:hasDbXref MESH:D011778 semapv:UnspecifiedMatching Orphanet:781 Q fever oboInOwl:hasDbXref MedDRA:10037688 semapv:UnspecifiedMatching Orphanet:781 Q fever oboInOwl:hasDbXref UMLS:C0034362 semapv:UnspecifiedMatching +Orphanet:781 Q fever oboInOwl:hasDbXref icd11:DB98.3 semapv:UnspecifiedMatching Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching @@ -29971,6 +34988,7 @@ Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:602482 semapv:Unsp Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS:C3495488 semapv:UnspecifiedMatching Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MESH:D012415 semapv:UnspecifiedMatching Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MedDRA:10039281 semapv:UnspecifiedMatching Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching @@ -29982,10 +35000,12 @@ Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref ICD10:E30.8 semapv: Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref ICD10:E30.8 semapv:UnspecifiedMatching Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref OMIM:615363 semapv:UnspecifiedMatching Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref UMLS:C4510972 semapv:UnspecifiedMatching +Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref icd11:5A90 semapv:UnspecifiedMatching Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref OMIM:615962 semapv:UnspecifiedMatching Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref UMLS:C5231034 semapv:UnspecifiedMatching +Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref icd11:5A71.00 semapv:UnspecifiedMatching Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref OMIM:262850 semapv:UnspecifiedMatching @@ -29997,6 +35017,7 @@ Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMa Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MedDRA:10038916 semapv:UnspecifiedMatching Orphanet:790 Retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching Orphanet:790 Retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref icd11:2D02.2 semapv:UnspecifiedMatching Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref OMIM:300209 semapv:UnspecifiedMatching @@ -30006,52 +35027,67 @@ Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref ICD10:D12.6 sema Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref UMLS:C5445164 semapv:UnspecifiedMatching +Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref ICD10:K11.8 semapv:UnspecifiedMatching Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref ICD10:K11.8 semapv:UnspecifiedMatching Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MESH:D008882 semapv:UnspecifiedMatching Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MedDRA:10051457 semapv:UnspecifiedMatching Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref UMLS:C0026103 semapv:UnspecifiedMatching Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref OMIM:608600 semapv:UnspecifiedMatching Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C5680134 semapv:UnspecifiedMatching Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0271693 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref MESH:C562448 semapv:UnspecifiedMatching Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref OMIM:608709 semapv:UnspecifiedMatching Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref UMLS:C0220989 semapv:UnspecifiedMatching +Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref icd11:EF01.0 semapv:UnspecifiedMatching Orphanet:79088 Localized lipodystrophy oboInOwl:hasDbXref UMLS:C4329999 semapv:UnspecifiedMatching Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref UMLS:C4510610 semapv:UnspecifiedMatching +Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref icd11:4A41.21 semapv:UnspecifiedMatching Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref ICD10:G37.4 semapv:UnspecifiedMatching Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref ICD10:G37.4 semapv:UnspecifiedMatching Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref UMLS:C2062694 semapv:UnspecifiedMatching +Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref icd11:8A45.21 semapv:UnspecifiedMatching Orphanet:79094 Grange syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:79094 Grange syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:79094 Grange syndrome oboInOwl:hasDbXref MESH:C566529 semapv:UnspecifiedMatching Orphanet:79094 Grange syndrome oboInOwl:hasDbXref OMIM:602531 semapv:UnspecifiedMatching Orphanet:79094 Grange syndrome oboInOwl:hasDbXref UMLS:C1865267 semapv:UnspecifiedMatching +Orphanet:79094 Grange syndrome oboInOwl:hasDbXref icd11:LD28.Y semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:614307 semapv:UnspecifiedMatching Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref UMLS:C3280428 semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref icd11:5C52.11 semapv:UnspecifiedMatching Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref MESH:C566449 semapv:UnspecifiedMatching Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref UMLS:C1864723 semapv:UnspecifiedMatching +Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref icd11:5C63.Y semapv:UnspecifiedMatching +Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref UMLS:C4273952 semapv:UnspecifiedMatching Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref icd11:5C59.Y semapv:UnspecifiedMatching @@ -30060,6 +35096,8 @@ Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref ICD10:H44.1 semapv:Unsp Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 semapv:UnspecifiedMatching Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MedDRA:10042742 semapv:UnspecifiedMatching Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref UMLS:C0029077 semapv:UnspecifiedMatching +Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching +Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref UMLS:C4751206 semapv:UnspecifiedMatching Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching @@ -30164,6 +35202,7 @@ Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:619845 semapv:Unspecif Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:620102 semapv:UnspecifiedMatching Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:620228 semapv:UnspecifiedMatching Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0035334 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref ICD10:L66.4 semapv:UnspecifiedMatching Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref ICD10:L66.4 semapv:UnspecifiedMatching Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 semapv:UnspecifiedMatching @@ -30171,21 +35210,27 @@ Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:604093 semapv:Un Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref UMLS:C0263429 semapv:UnspecifiedMatching Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 semapv:UnspecifiedMatching Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MedDRA:10058514 semapv:UnspecifiedMatching Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 semapv:UnspecifiedMatching Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref UMLS:C2931835 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref icd11:5C50.8 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref MedDRA:10043788 semapv:UnspecifiedMatching Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:188580 semapv:UnspecifiedMatching Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:613239 semapv:UnspecifiedMatching Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:614834 semapv:UnspecifiedMatching Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref UMLS:C0268446 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref icd11:5A02.Y semapv:UnspecifiedMatching +Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref MedDRA:10066948 semapv:UnspecifiedMatching Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref UMLS:C3714524 semapv:UnspecifiedMatching Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref icd11:2B53.0 semapv:UnspecifiedMatching Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref MESH:C564010 semapv:UnspecifiedMatching Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref UMLS:C1838779 semapv:UnspecifiedMatching @@ -30194,6 +35239,7 @@ Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:h Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref OMIM:607371 semapv:UnspecifiedMatching Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref UMLS:C4303590 semapv:UnspecifiedMatching +Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref MESH:C537405 semapv:UnspecifiedMatching @@ -30210,23 +35256,29 @@ Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4510630 semapv:UnspecifiedMatching Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref icd11:4A01.33 semapv:UnspecifiedMatching Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref MedDRA:10066728 semapv:UnspecifiedMatching Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref UMLS:C1279945 semapv:UnspecifiedMatching +Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref icd11:CB03.0 semapv:UnspecifiedMatching Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref ICD10:J68.4 semapv:UnspecifiedMatching Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref ICD10:J68.4 semapv:UnspecifiedMatching Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref MedDRA:10066393 semapv:UnspecifiedMatching Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref UMLS:C1735355 semapv:UnspecifiedMatching +Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref icd11:CB03.6 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref MESH:C562489 semapv:UnspecifiedMatching Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref MedDRA:10062997 semapv:UnspecifiedMatching Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref OMIM:247610 semapv:UnspecifiedMatching Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref UMLS:C0264511 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref icd11:CB03.5 semapv:UnspecifiedMatching Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C4304344 semapv:UnspecifiedMatching Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref OMIM:136500 semapv:UnspecifiedMatching Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref UMLS:C5235196 semapv:UnspecifiedMatching Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching @@ -30234,22 +35286,27 @@ Orphanet:79134 DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMa Orphanet:79134 DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:79134 DEND syndrome oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching Orphanet:79134 DEND syndrome oboInOwl:hasDbXref UMLS:C4303593 semapv:UnspecifiedMatching +Orphanet:79134 DEND syndrome oboInOwl:hasDbXref icd11:KB60.2Y semapv:UnspecifiedMatching Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref MESH:C564697 semapv:UnspecifiedMatching Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref OMIM:606554 semapv:UnspecifiedMatching Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref UMLS:C1847839 semapv:UnspecifiedMatching +Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref MESH:C564698 semapv:UnspecifiedMatching Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref OMIM:606552 semapv:UnspecifiedMatching Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref UMLS:C1847843 semapv:UnspecifiedMatching +Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref MESH:C563719 semapv:UnspecifiedMatching Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref OMIM:609446 semapv:UnspecifiedMatching Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1836173 semapv:UnspecifiedMatching Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref MedDRA:10076985 semapv:UnspecifiedMatching Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref UMLS:C1960543 semapv:UnspecifiedMatching Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching @@ -30260,11 +35317,14 @@ Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref MedDRA:10014596 semapv:U Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref UMLS:C0014057 semapv:UnspecifiedMatching Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref icd11:1C85 semapv:UnspecifiedMatching Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.6 semapv:UnspecifiedMatching Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.6 semapv:UnspecifiedMatching Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.7 semapv:UnspecifiedMatching Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.7 semapv:UnspecifiedMatching Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C0007129 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C34 semapv:UnspecifiedMatching +Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref MESH:C566180 semapv:UnspecifiedMatching Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref OMIM:114140 semapv:UnspecifiedMatching @@ -30281,6 +35341,7 @@ Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:614149 sema Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref UMLS:C0265998 semapv:UnspecifiedMatching Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching +Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref OMIM:605779 semapv:UnspecifiedMatching Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref UMLS:C1274658 semapv:UnspecifiedMatching Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching @@ -30306,25 +35367,32 @@ Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref ICD Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref MESH:C565687 semapv:UnspecifiedMatching Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref OMIM:216700 semapv:UnspecifiedMatching Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref UMLS:C1857624 semapv:UnspecifiedMatching +Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref icd11:EE70.Y semapv:UnspecifiedMatching Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref ICD10:L87.2 semapv:UnspecifiedMatching Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref ICD10:L87.2 semapv:UnspecifiedMatching Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MESH:C536202 semapv:UnspecifiedMatching Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MedDRA:10014338 semapv:UnspecifiedMatching Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref OMIM:130100 semapv:UnspecifiedMatching Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref UMLS:C0221271 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref icd11:EE70.Y semapv:UnspecifiedMatching +Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref MESH:C535375 semapv:UnspecifiedMatching Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref OMIM:221800 semapv:UnspecifiedMatching Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref UMLS:C0432288 semapv:UnspecifiedMatching +Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref icd11:EC4Y semapv:UnspecifiedMatching Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref OMIM:614323 semapv:UnspecifiedMatching Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref UMLS:C1304501 semapv:UnspecifiedMatching Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref MedDRA:10069445 semapv:UnspecifiedMatching Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref OMIM:101900 semapv:UnspecifiedMatching Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref UMLS:C0265971 semapv:UnspecifiedMatching +Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref icd11:EC20.Y semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref MedDRA:10085766 semapv:UnspecifiedMatching Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching @@ -30342,14 +35410,17 @@ Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref OMIM:161050 semapv:Un Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref UMLS:C5681288 semapv:UnspecifiedMatching Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref OMIM:204750 semapv:UnspecifiedMatching Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref UMLS:C1859817 semapv:UnspecifiedMatching Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref MESH:C536081 semapv:UnspecifiedMatching Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref OMIM:236800 semapv:UnspecifiedMatching Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref UMLS:C0268474 semapv:UnspecifiedMatching Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref OMIM:236900 semapv:UnspecifiedMatching Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref UMLS:C4510221 semapv:UnspecifiedMatching Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching @@ -30374,6 +35445,8 @@ Orphanet:79163 Classic organic aciduria oboInOwl:hasDbXref icd11:5C50.E0 semapv: Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref UMLS:C0268641 semapv:UnspecifiedMatching +Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref icd11:5C60 semapv:UnspecifiedMatching +Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification oboInOwl:hasDbXref UMLS:C5681290 semapv:UnspecifiedMatching Orphanet:79169 Disorder of neurotransmitter metabolism and transport oboInOwl:hasDbXref UMLS:C5681289 semapv:UnspecifiedMatching @@ -30382,16 +35455,20 @@ Orphanet:79171 Disorder of cobalamin metabolism and transport oboInOwl:hasDbXref Orphanet:79172 Creatine deficiency syndrome oboInOwl:hasDbXref MedDRA:10084104 semapv:UnspecifiedMatching Orphanet:79172 Creatine deficiency syndrome oboInOwl:hasDbXref UMLS:C5244016 semapv:UnspecifiedMatching Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref UMLS:C5680126 semapv:UnspecifiedMatching Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref UMLS:C5681281 semapv:UnspecifiedMatching +Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism oboInOwl:hasDbXref icd11:5C59.1 semapv:UnspecifiedMatching Orphanet:79178 Glucose transport disorder oboInOwl:hasDbXref UMLS:C5389835 semapv:UnspecifiedMatching Orphanet:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref UMLS:C0342762 semapv:UnspecifiedMatching Orphanet:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching Orphanet:79181 Disorder of histidine metabolism oboInOwl:hasDbXref UMLS:C0268512 semapv:UnspecifiedMatching Orphanet:79181 Disorder of histidine metabolism oboInOwl:hasDbXref icd11:5C50.2 semapv:UnspecifiedMatching Orphanet:79183 Disorder of ketolysis oboInOwl:hasDbXref UMLS:C5681845 semapv:UnspecifiedMatching +Orphanet:79183 Disorder of ketolysis oboInOwl:hasDbXref icd11:5C52.02 semapv:UnspecifiedMatching Orphanet:79185 Disorder of ornithine or proline metabolism oboInOwl:hasDbXref UMLS:C5681278 semapv:UnspecifiedMatching Orphanet:79186 Disorder of pentose phosphate metabolism oboInOwl:hasDbXref UMLS:C5681279 semapv:UnspecifiedMatching Orphanet:79186 Disorder of pentose phosphate metabolism oboInOwl:hasDbXref icd11:5C51.0 semapv:UnspecifiedMatching @@ -30422,11 +35499,13 @@ Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614886 sem Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref UMLS:C1832200 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref icd11:5C57.0 semapv:UnspecifiedMatching Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism oboInOwl:hasDbXref UMLS:C5681284 semapv:UnspecifiedMatching Orphanet:79191 Disorder of purine metabolism oboInOwl:hasDbXref MedDRA:10061476 semapv:UnspecifiedMatching Orphanet:79191 Disorder of purine metabolism oboInOwl:hasDbXref UMLS:C0268104 semapv:UnspecifiedMatching Orphanet:79191 Disorder of purine metabolism oboInOwl:hasDbXref icd11:5C55.0 semapv:UnspecifiedMatching Orphanet:79192 Disorder of pyridoxine metabolism oboInOwl:hasDbXref UMLS:C5681285 semapv:UnspecifiedMatching +Orphanet:79192 Disorder of pyridoxine metabolism oboInOwl:hasDbXref icd11:5C59.2 semapv:UnspecifiedMatching Orphanet:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref MedDRA:10070969 semapv:UnspecifiedMatching Orphanet:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref UMLS:C0268127 semapv:UnspecifiedMatching Orphanet:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching @@ -30437,11 +35516,13 @@ Orphanet:79196 Disorder of the gamma-glutamyl cycle oboInOwl:hasDbXref icd11:5C5 Orphanet:79197 Disorder of branched-chain amino acid metabolism oboInOwl:hasDbXref UMLS:C0342712 semapv:UnspecifiedMatching Orphanet:79197 Disorder of branched-chain amino acid metabolism oboInOwl:hasDbXref icd11:5C50.D semapv:UnspecifiedMatching Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching +Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref OMIM:312700 semapv:UnspecifiedMatching Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref UMLS:C0271091 semapv:UnspecifiedMatching Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref icd11:9B73.11 semapv:UnspecifiedMatching Orphanet:79200 Disorder of energy metabolism oboInOwl:hasDbXref UMLS:C5681282 semapv:UnspecifiedMatching Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref MESH:D006008 semapv:UnspecifiedMatching Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref MedDRA:10061990 semapv:UnspecifiedMatching Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref UMLS:C0017919 semapv:UnspecifiedMatching @@ -30454,6 +35535,7 @@ Orphanet:79212 Mucolipidosis oboInOwl:hasDbXref icd11:5C56.20 semapv:Unspecified Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:UnspecifiedMatching Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MedDRA:10028093 semapv:UnspecifiedMatching Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref UMLS:C0026703 semapv:UnspecifiedMatching +Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref icd11:5C56.3 semapv:UnspecifiedMatching Orphanet:79214 Disorder of biogenic amine metabolism and transport oboInOwl:hasDbXref UMLS:C5681274 semapv:UnspecifiedMatching Orphanet:79215 Oligosaccharidosis oboInOwl:hasDbXref UMLS:C5547641 semapv:UnspecifiedMatching Orphanet:79215 Oligosaccharidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching @@ -30467,6 +35549,7 @@ Orphanet:79225 Sphingolipidosis oboInOwl:hasDbXref UMLS:C0037899 semapv:Unspecif Orphanet:79225 Sphingolipidosis oboInOwl:hasDbXref icd11:5C56.0 semapv:UnspecifiedMatching Orphanet:79226 Sterol metabolism disorder oboInOwl:hasDbXref UMLS:C5681277 semapv:UnspecifiedMatching Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref MESH:C537247 semapv:UnspecifiedMatching Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref OMIM:602390 semapv:UnspecifiedMatching Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref OMIM:613313 semapv:UnspecifiedMatching @@ -30479,29 +35562,35 @@ Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref UMLS:C0268117 semapv:UnspecifiedMatching Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching +Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref MedDRA:10057034 semapv:UnspecifiedMatching Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref UMLS:C0010324 semapv:UnspecifiedMatching Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref icd11:5C58.00 semapv:UnspecifiedMatching Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MESH:C536213 semapv:UnspecifiedMatching Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MedDRA:10011387 semapv:UnspecifiedMatching Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref OMIM:606785 semapv:UnspecifiedMatching Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref UMLS:C2931132 semapv:UnspecifiedMatching Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref icd11:5C58.00 semapv:UnspecifiedMatching Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref UMLS:C0268155 semapv:UnspecifiedMatching Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref icd11:5C51.41 semapv:UnspecifiedMatching Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref UMLS:C0751161 semapv:UnspecifiedMatching Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref UMLS:C0268151 semapv:UnspecifiedMatching Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref icd11:5C51.40 semapv:UnspecifiedMatching Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref MESH:C563008 semapv:UnspecifiedMatching Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:261750 semapv:UnspecifiedMatching Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0543514 semapv:UnspecifiedMatching @@ -30520,17 +35609,23 @@ Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253 Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS:C0268581 semapv:UnspecifiedMatching Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref MESH:C564071 semapv:UnspecifiedMatching Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref UMLS:C1839413 semapv:UnspecifiedMatching +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref MESH:C565448 semapv:UnspecifiedMatching Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref UMLS:C1855565 semapv:UnspecifiedMatching +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref MESH:C536258 semapv:UnspecifiedMatching Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref UMLS:C1837429 semapv:UnspecifiedMatching +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref icd11:5C53.02 semapv:UnspecifiedMatching Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching @@ -30541,32 +35636,41 @@ Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:Uns Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref MedDRA:10034875 semapv:UnspecifiedMatching Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref UMLS:C0751434 semapv:UnspecifiedMatching +Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref icd11:5C50.00 semapv:UnspecifiedMatching +Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref UMLS:C0268272 semapv:UnspecifiedMatching Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref UMLS:C0268273 semapv:UnspecifiedMatching Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref UMLS:C5680202 semapv:UnspecifiedMatching Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref MESH:C562594 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref UMLS:C0268146 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref UMLS:C0342749 semapv:UnspecifiedMatching Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref UMLS:C0342750 semapv:UnspecifiedMatching Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:162350 semapv:UnspecifiedMatching Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204300 semapv:UnspecifiedMatching Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching @@ -30575,9 +35679,13 @@ Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:6101 Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022797 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0268281 semapv:UnspecifiedMatching +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10052073 semapv:UnspecifiedMatching Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching @@ -30587,29 +35695,40 @@ Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:6 Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:609055 semapv:UnspecifiedMatching Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0751383 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching +Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref UMLS:C0086647 semapv:UnspecifiedMatching +Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref UMLS:C0086648 semapv:UnspecifiedMatching +Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref UMLS:C0086649 semapv:UnspecifiedMatching +Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref UMLS:C0086650 semapv:UnspecifiedMatching +Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 semapv:UnspecifiedMatching Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref MedDRA:10019866 semapv:UnspecifiedMatching Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref UMLS:C0162531 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref UMLS:C0162565 semapv:UnspecifiedMatching +Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching @@ -30624,15 +35743,18 @@ Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:1 Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C0162568 semapv:UnspecifiedMatching Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref icd11:5C58.12 semapv:UnspecifiedMatching Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref MESH:C536631 semapv:UnspecifiedMatching Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref UMLS:C1836544 semapv:UnspecifiedMatching Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref UMLS:C1836522 semapv:UnspecifiedMatching Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref UMLS:C5437471 semapv:UnspecifiedMatching Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching @@ -30641,25 +35763,30 @@ Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:ha Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref MESH:C564743 semapv:UnspecifiedMatching Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref UMLS:C1848552 semapv:UnspecifiedMatching Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref MESH:C564747 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref UMLS:C1848578 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref UMLS:C0268247 semapv:UnspecifiedMatching Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref OMIM:136120 semapv:UnspecifiedMatching Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref UMLS:C0342895 semapv:UnspecifiedMatching +Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref icd11:5C81.0 semapv:UnspecifiedMatching Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref UMLS:C4087498 semapv:UnspecifiedMatching +Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref icd11:5C81.0 semapv:UnspecifiedMatching Orphanet:79298 Diazoxide-resistant focal hyperinsulinism oboInOwl:hasDbXref UMLS:C5680204 semapv:UnspecifiedMatching Orphanet:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching Orphanet:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching @@ -30670,29 +35797,39 @@ Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMat Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref MESH:D020083 semapv:UnspecifiedMatching Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref MedDRA:10051316 semapv:UnspecifiedMatching Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref UMLS:C0263859 semapv:UnspecifiedMatching +Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref icd11:4A61 semapv:UnspecifiedMatching +Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref OMIM:607765 semapv:UnspecifiedMatching Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref UMLS:C1843116 semapv:UnspecifiedMatching +Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref icd11:5C52.11 semapv:UnspecifiedMatching +Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref OMIM:613812 semapv:UnspecifiedMatching Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref UMLS:C4304715 semapv:UnspecifiedMatching +Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref icd11:5C52.11 semapv:UnspecifiedMatching +Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref MESH:C535443 semapv:UnspecifiedMatching Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref OMIM:235555 semapv:UnspecifiedMatching Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref UMLS:C1856127 semapv:UnspecifiedMatching +Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref icd11:5C52.11 semapv:UnspecifiedMatching +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref UMLS:C3489789 semapv:UnspecifiedMatching Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref UMLS:C1865643 semapv:UnspecifiedMatching Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref MESH:C535933 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching @@ -30813,17 +35950,23 @@ Orphanet:79333 COG7-CDG oboInOwl:hasDbXref OMIM:608779 semapv:UnspecifiedMatchin Orphanet:79333 COG7-CDG oboInOwl:hasDbXref UMLS:C2931010 semapv:UnspecifiedMatching Orphanet:79333 COG7-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref MESH:C000705207 semapv:UnspecifiedMatching Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302950 semapv:UnspecifiedMatching Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:602497 semapv:UnspecifiedMatching Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C1844853 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref MESH:C562961 semapv:UnspecifiedMatching Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref OMIM:118651 semapv:UnspecifiedMatching Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref UMLS:C0432224 semapv:UnspecifiedMatching +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching +Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref UMLS:C4275076 semapv:UnspecifiedMatching +Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:614023 semapv:UnspecifiedMatching @@ -30854,6 +35997,7 @@ Orphanet:79362 Epidermal appendage anomaly oboInOwl:hasDbXref UMLS:C5681487 sema Orphanet:79363 Hair anomaly oboInOwl:hasDbXref UMLS:C0265991 semapv:UnspecifiedMatching Orphanet:79364 Alopecia oboInOwl:hasDbXref MESH:D000505 semapv:UnspecifiedMatching Orphanet:79364 Alopecia oboInOwl:hasDbXref UMLS:C0002170 semapv:UnspecifiedMatching +Orphanet:79364 Alopecia oboInOwl:hasDbXref icd11:ED70 semapv:UnspecifiedMatching Orphanet:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MESH:D006983 semapv:UnspecifiedMatching Orphanet:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MedDRA:10020864 semapv:UnspecifiedMatching Orphanet:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref UMLS:C5681488 semapv:UnspecifiedMatching @@ -30899,6 +36043,8 @@ Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615 Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615023 semapv:UnspecifiedMatching Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615024 semapv:UnspecifiedMatching Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C0079154 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref OMIM:604117 semapv:UnspecifiedMatching Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref UMLS:C1858805 semapv:UnspecifiedMatching @@ -30925,6 +36071,7 @@ Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:Unsp Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:101400 semapv:UnspecifiedMatching Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS:C0175699 semapv:UnspecifiedMatching +Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:131800 semapv:UnspecifiedMatching @@ -30938,6 +36085,7 @@ Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without e Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref UMLS:C0432317 semapv:UnspecifiedMatching Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619783 semapv:UnspecifiedMatching Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619785 semapv:UnspecifiedMatching @@ -30945,6 +36093,7 @@ Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOw Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619816 semapv:UnspecifiedMatching Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C5680200 semapv:UnspecifiedMatching Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref MESH:C535377 semapv:UnspecifiedMatching Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:226730 semapv:UnspecifiedMatching Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:619817 semapv:UnspecifiedMatching @@ -30957,10 +36106,12 @@ Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasD Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079683 semapv:UnspecifiedMatching Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref UMLS:C2673609 semapv:UnspecifiedMatching Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619787 semapv:UnspecifiedMatching Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C4304724 semapv:UnspecifiedMatching Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching @@ -30991,6 +36142,8 @@ Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref ICD10:D23.4 semapv:Unspecifi Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref OMIM:162900 semapv:UnspecifiedMatching Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref UMLS:C0343114 semapv:UnspecifiedMatching +Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref icd11:LC01 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MESH:D022861 semapv:UnspecifiedMatching Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MedDRA:10071775 semapv:UnspecifiedMatching @@ -31008,40 +36161,52 @@ Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:619172 semapv:U Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS:C0079504 semapv:UnspecifiedMatching Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref UMLS:C4551504 semapv:UnspecifiedMatching Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref MESH:C537730 semapv:UnspecifiedMatching Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref OMIM:203200 semapv:UnspecifiedMatching Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref UMLS:C0268495 semapv:UnspecifiedMatching Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MESH:C537189 semapv:UnspecifiedMatching Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref OMIM:203290 semapv:UnspecifiedMatching Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref UMLS:C0342683 semapv:UnspecifiedMatching Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref MESH:C537729 semapv:UnspecifiedMatching Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref UMLS:C1847024 semapv:UnspecifiedMatching Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref MESH:C564696 semapv:UnspecifiedMatching Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref OMIM:606574 semapv:UnspecifiedMatching Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref UMLS:C1847836 semapv:UnspecifiedMatching Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref OMIM:103580 semapv:UnspecifiedMatching Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref UMLS:C3494506 semapv:UnspecifiedMatching +Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching +Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref MESH:C548076 semapv:UnspecifiedMatching Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref UMLS:C2932716 semapv:UnspecifiedMatching +Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching +Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 semapv:UnspecifiedMatching +Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching +Orphanet:79446 Multiple pterygium syndrome, Aslan type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:79446 Multiple pterygium syndrome, Aslan type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching @@ -31063,10 +36228,12 @@ Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref ICD10:Q82.2 semapv:Unspe Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref MESH:D054705 semapv:UnspecifiedMatching Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0343115 semapv:UnspecifiedMatching +Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref icd11:2A21.1Y semapv:UnspecifiedMatching Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10012812 semapv:UnspecifiedMatching Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0024901 semapv:UnspecifiedMatching +Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.1Y semapv:UnspecifiedMatching Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref icd11:XH2RG8 semapv:UnspecifiedMatching Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching @@ -31076,12 +36243,15 @@ Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref OMIM:1548 Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0042111 semapv:UnspecifiedMatching Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching Orphanet:79458 Oley syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:79458 Oley syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref UMLS:C0473574 semapv:UnspecifiedMatching +Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref icd11:LC00.Y semapv:UnspecifiedMatching Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref UMLS:C0362030 semapv:UnspecifiedMatching +Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref icd11:LC00.Y semapv:UnspecifiedMatching Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref UMLS:C5681486 semapv:UnspecifiedMatching @@ -31094,19 +36264,25 @@ Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref icd11:5C58.13 semapv:Unspe Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref UMLS:C4275075 semapv:UnspecifiedMatching +Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching +Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS:C1859194 semapv:UnspecifiedMatching +Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching +Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref MESH:C537302 semapv:UnspecifiedMatching Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref UMLS:C1868679 semapv:UnspecifiedMatching Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref MESH:C537303 semapv:UnspecifiedMatching Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS:C1836573 semapv:UnspecifiedMatching +Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref ICD10:L10.1 semapv:UnspecifiedMatching Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref ICD10:L10.1 semapv:UnspecifiedMatching Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref MedDRA:10057053 semapv:UnspecifiedMatching @@ -31123,14 +36299,21 @@ Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref MedDRA:10057069 semapv:Uns Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263313 semapv:UnspecifiedMatching Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref icd11:EB40.1 semapv:UnspecifiedMatching Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:304200 semapv:UnspecifiedMatching Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0795848 semapv:UnspecifiedMatching Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref UMLS:C3838883 semapv:UnspecifiedMatching +Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching +Orphanet:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref UMLS:C3839296 semapv:UnspecifiedMatching +Orphanet:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching +Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref UMLS:C3839763 semapv:UnspecifiedMatching +Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching @@ -31141,9 +36324,12 @@ Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref icd11:LA90. Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref UMLS:C4738056 semapv:UnspecifiedMatching +Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref icd11:LA90.11 semapv:UnspecifiedMatching +Orphanet:79492 Pili gemini oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:79492 Pili gemini oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:79492 Pili gemini oboInOwl:hasDbXref MESH:C537188 semapv:UnspecifiedMatching Orphanet:79492 Pili gemini oboInOwl:hasDbXref UMLS:C0019571 semapv:UnspecifiedMatching +Orphanet:79492 Pili gemini oboInOwl:hasDbXref icd11:ED73.Y semapv:UnspecifiedMatching Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching @@ -31154,6 +36340,7 @@ Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:601606 semapv:Un Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:612099 semapv:UnspecifiedMatching Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS:C1857941 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref icd11:2F22 semapv:UnspecifiedMatching Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref MESH:C538388 semapv:UnspecifiedMatching @@ -31176,20 +36363,24 @@ Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedM Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref UMLS:C0795934 semapv:UnspecifiedMatching Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref MESH:C536161 semapv:UnspecifiedMatching Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:148600 semapv:UnspecifiedMatching Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:614936 semapv:UnspecifiedMatching Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref UMLS:C1835662 semapv:UnspecifiedMatching Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref icd11:EC20.32 semapv:UnspecifiedMatching Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref MESH:C536338 semapv:UnspecifiedMatching Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref OMIM:175860 semapv:UnspecifiedMatching Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref UMLS:C1867982 semapv:UnspecifiedMatching Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref icd11:EC20.32 semapv:UnspecifiedMatching Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref MESH:C536088 semapv:UnspecifiedMatching Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref OMIM:146590 semapv:UnspecifiedMatching Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref UMLS:C1840296 semapv:UnspecifiedMatching +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref MESH:C536087 semapv:UnspecifiedMatching @@ -31205,6 +36396,7 @@ Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbX Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref OMIM:614037 semapv:UnspecifiedMatching Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3279662 semapv:UnspecifiedMatching Orphanet:796 Sandhoff disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:796 Sandhoff disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:796 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching Orphanet:796 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching Orphanet:796 Sandhoff disease oboInOwl:hasDbXref UMLS:C0036161 semapv:UnspecifiedMatching @@ -31231,8 +36423,12 @@ Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref UMLS:C0017097 semapv:Unspecif Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref icd11:LD2D.3 semapv:UnspecifiedMatching Orphanet:79669 Autoimmune bullous skin disease oboInOwl:hasDbXref UMLS:C5681494 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.0 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.0 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.1 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.1 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.2 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.2 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.3 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.3 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.8 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.8 semapv:UnspecifiedMatching @@ -31248,6 +36444,8 @@ Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20 semapv:UnspecifiedMatchin Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.1 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.2 semapv:UnspecifiedMatching Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.3 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.4 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.5 semapv:UnspecifiedMatching Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref MESH:C536632 semapv:UnspecifiedMatching @@ -31263,9 +36461,11 @@ Orphanet:799 Schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMat Orphanet:799 Schizencephaly oboInOwl:hasDbXref UMLS:C0266484 semapv:UnspecifiedMatching Orphanet:799 Schizencephaly oboInOwl:hasDbXref icd11:LA05.61 semapv:UnspecifiedMatching Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref ICD10:Q98.5 semapv:UnspecifiedMatching +Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref ICD10:Q98.5 semapv:UnspecifiedMatching Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref MESH:C535317 semapv:UnspecifiedMatching Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref MedDRA:10056894 semapv:UnspecifiedMatching Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref UMLS:C3266843 semapv:UnspecifiedMatching +Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref icd11:LD52.1 semapv:UnspecifiedMatching Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref MESH:D016736 semapv:UnspecifiedMatching @@ -31273,14 +36473,17 @@ Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref MedDRA:10002817 semapv: Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C0085278 semapv:UnspecifiedMatching Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref icd11:4A45 semapv:UnspecifiedMatching Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref MedDRA:10082378 semapv:UnspecifiedMatching Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref OMIM:255800 semapv:UnspecifiedMatching Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref UMLS:C0036391 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref icd11:8C71.1 semapv:UnspecifiedMatching Orphanet:801 Scleroderma oboInOwl:hasDbXref MedDRA:10039710 semapv:UnspecifiedMatching Orphanet:801 Scleroderma oboInOwl:hasDbXref UMLS:C0011644 semapv:UnspecifiedMatching Orphanet:802 NON RARE IN EUROPE: Multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching +Orphanet:802 NON RARE IN EUROPE: Multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching @@ -31310,6 +36513,7 @@ Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617921 semapv Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619141 semapv:UnspecifiedMatching Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C0002736 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref icd11:8B60.0 semapv:UnspecifiedMatching Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref ICD10:Q85.1 semapv:UnspecifiedMatching Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref ICD10:Q85.1 semapv:UnspecifiedMatching Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref MESH:D014402 semapv:UnspecifiedMatching @@ -31323,12 +36527,14 @@ Orphanet:806 Scott syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMat Orphanet:806 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMatching Orphanet:806 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching Orphanet:806 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 semapv:UnspecifiedMatching +Orphanet:806 Scott syndrome oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref MESH:C537531 semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref UMLS:C1854520 semapv:UnspecifiedMatching Orphanet:808 Seckel syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:808 Seckel syndrome oboInOwl:hasDbXref MESH:C537533 semapv:UnspecifiedMatching Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:210600 semapv:UnspecifiedMatching Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:606744 semapv:UnspecifiedMatching @@ -31348,19 +36554,26 @@ Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MedDRA:10027754 Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref UMLS:C0026272 semapv:UnspecifiedMatching Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref icd11:1A30 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MESH:C537778 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MedDRA:10068801 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref UMLS:C2609059 semapv:UnspecifiedMatching +Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref icd11:4A43.Y semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.0 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.0 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.1 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.1 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.2 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.2 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.3 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.3 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.8 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.8 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.9 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.9 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref MedDRA:10054178 semapv:UnspecifiedMatching Orphanet:810 Shigellosis oboInOwl:hasDbXref UMLS:C0013371 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref icd11:1A02 semapv:UnspecifiedMatching Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref MESH:D000081003 semapv:UnspecifiedMatching @@ -31368,11 +36581,14 @@ Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref MedDRA:10067940 semap Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 semapv:UnspecifiedMatching Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:617941 semapv:UnspecifiedMatching Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref UMLS:C0272170 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref icd11:3A70.0 semapv:UnspecifiedMatching +Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref UMLS:C0023806 semapv:UnspecifiedMatching Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 semapv:UnspecifiedMatching Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref MedDRA:10062282 semapv:UnspecifiedMatching Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 semapv:UnspecifiedMatching @@ -31381,18 +36597,22 @@ Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:616489 semapv:Unspe Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref UMLS:C0175693 semapv:UnspecifiedMatching Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 semapv:UnspecifiedMatching Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MedDRA:10048676 semapv:UnspecifiedMatching Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 semapv:UnspecifiedMatching Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref UMLS:C0037231 semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref icd11:5C52.03 semapv:UnspecifiedMatching Orphanet:817 Peeling skin syndrome oboInOwl:hasDbXref MESH:C564818 semapv:UnspecifiedMatching Orphanet:817 Peeling skin syndrome oboInOwl:hasDbXref UMLS:C1849193 semapv:UnspecifiedMatching Orphanet:817 Peeling skin syndrome oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MESH:D019082 semapv:UnspecifiedMatching Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MedDRA:10078573 semapv:UnspecifiedMatching Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref OMIM:270400 semapv:UnspecifiedMatching Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS:C0175694 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref icd11:5C52.10 semapv:UnspecifiedMatching Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref MESH:D058496 semapv:UnspecifiedMatching @@ -31406,19 +36626,24 @@ Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency o Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref UMLS:C5679844 semapv:UnspecifiedMatching Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MedDRA:10053841 semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref icd11:4A44.6 semapv:UnspecifiedMatching Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref UMLS:C1845235 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref MedDRA:10064387 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref OMIM:117550 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref OMIM:617169 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref UMLS:C0175695 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref ICD10:D58.0 semapv:UnspecifiedMatching Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref ICD10:D58.0 semapv:UnspecifiedMatching Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MESH:D013103 semapv:UnspecifiedMatching Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MedDRA:10019904 semapv:UnspecifiedMatching @@ -31428,12 +36653,14 @@ Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612653 semapv:Unsp Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612690 semapv:UnspecifiedMatching Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:616649 semapv:UnspecifiedMatching Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref UMLS:C0037889 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MESH:D016135 semapv:UnspecifiedMatching Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MedDRA:10041524 semapv:UnspecifiedMatching Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:182940 semapv:UnspecifiedMatching Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref UMLS:C5680973 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref icd11:LA02 semapv:UnspecifiedMatching Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref ICD10:D47.4 semapv:UnspecifiedMatching Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref ICD10:D47.4 semapv:UnspecifiedMatching Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref MESH:D055728 semapv:UnspecifiedMatching @@ -31446,6 +36673,8 @@ Orphanet:825 NON RARE IN EUROPE: Ankylosing spondylitis oboInOwl:hasDbXref ICD10 Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.0 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.0 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.1 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.1 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.7 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.7 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.8 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.8 semapv:UnspecifiedMatching @@ -31458,6 +36687,8 @@ Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J semapv:UnspecifiedMatc Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.0 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.1 semapv:UnspecifiedMatching Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.2 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.3 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.Y semapv:UnspecifiedMatching Orphanet:827 Stargardt disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:827 Stargardt disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:827 Stargardt disease oboInOwl:hasDbXref MESH:D000080362 semapv:UnspecifiedMatching @@ -31466,6 +36697,7 @@ Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:248200 semapv:Unspecified Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:600110 semapv:UnspecifiedMatching Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:603786 semapv:UnspecifiedMatching Orphanet:827 Stargardt disease oboInOwl:hasDbXref UMLS:C0271093 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:828 Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:828 Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:828 Stickler syndrome oboInOwl:hasDbXref MedDRA:10063402 semapv:UnspecifiedMatching @@ -31477,6 +36709,7 @@ Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614284 semapv:Unspecified Orphanet:828 Stickler syndrome oboInOwl:hasDbXref UMLS:C0265253 semapv:UnspecifiedMatching Orphanet:828 Stickler syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref ICD10:M06.1 semapv:UnspecifiedMatching +Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref ICD10:M06.1 semapv:UnspecifiedMatching Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MESH:D016706 semapv:UnspecifiedMatching Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MedDRA:10064056 semapv:UnspecifiedMatching Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref UMLS:C0085253 semapv:UnspecifiedMatching @@ -31487,15 +36720,19 @@ Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref MESH:D054882 semapv:Unspec Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref MedDRA:10083864 semapv:UnspecifiedMatching Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref UMLS:C5234850 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref UMLS:C4749275 semapv:UnspecifiedMatching Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref MESH:C537527 semapv:UnspecifiedMatching Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref OMIM:245050 semapv:UnspecifiedMatching Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref UMLS:C0342792 semapv:UnspecifiedMatching +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref icd11:5C52.02 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching @@ -31504,18 +36741,23 @@ Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref UMLS:C4275019 semapv:UnspecifiedMatching Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref ICD10:A77.0 semapv:UnspecifiedMatching +Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref ICD10:A77.0 semapv:UnspecifiedMatching Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MESH:D012373 semapv:UnspecifiedMatching Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MedDRA:10039207 semapv:UnspecifiedMatching Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref UMLS:C0035793 semapv:UnspecifiedMatching +Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref icd11:1C31.0 semapv:UnspecifiedMatching +Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref ICD10:A79.1 semapv:UnspecifiedMatching Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref ICD10:A79.1 semapv:UnspecifiedMatching Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref MedDRA:10039137 semapv:UnspecifiedMatching Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref UMLS:C0035597 semapv:UnspecifiedMatching Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref icd11:1C32 semapv:UnspecifiedMatching Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching +Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref MESH:D001907 semapv:UnspecifiedMatching Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref MedDRA:10006045 semapv:UnspecifiedMatching Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref UMLS:C0006060 semapv:UnspecifiedMatching +Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref icd11:1C31.1 semapv:UnspecifiedMatching Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching @@ -31523,20 +36765,25 @@ Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref MedDRA:10014979 semapv:Unspeci Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref UMLS:C0041473 semapv:UnspecifiedMatching Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref icd11:1C30.0 semapv:UnspecifiedMatching Orphanet:83315 Murine typhus oboInOwl:hasDbXref ICD10:A75.2 semapv:UnspecifiedMatching +Orphanet:83315 Murine typhus oboInOwl:hasDbXref ICD10:A75.2 semapv:UnspecifiedMatching Orphanet:83315 Murine typhus oboInOwl:hasDbXref MESH:D014437 semapv:UnspecifiedMatching Orphanet:83315 Murine typhus oboInOwl:hasDbXref MedDRA:10028282 semapv:UnspecifiedMatching Orphanet:83315 Murine typhus oboInOwl:hasDbXref UMLS:C0041472 semapv:UnspecifiedMatching +Orphanet:83315 Murine typhus oboInOwl:hasDbXref icd11:1C30.2 semapv:UnspecifiedMatching Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref ICD10:A79.8 semapv:UnspecifiedMatching Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref ICD10:A79.8 semapv:UnspecifiedMatching Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref UMLS:C4706680 semapv:UnspecifiedMatching Orphanet:83317 Scrub typhus oboInOwl:hasDbXref ICD10:A75.3 semapv:UnspecifiedMatching +Orphanet:83317 Scrub typhus oboInOwl:hasDbXref ICD10:A75.3 semapv:UnspecifiedMatching Orphanet:83317 Scrub typhus oboInOwl:hasDbXref MESH:D012612 semapv:UnspecifiedMatching Orphanet:83317 Scrub typhus oboInOwl:hasDbXref MedDRA:10039766 semapv:UnspecifiedMatching Orphanet:83317 Scrub typhus oboInOwl:hasDbXref UMLS:C0036472 semapv:UnspecifiedMatching +Orphanet:83317 Scrub typhus oboInOwl:hasDbXref icd11:1C30.3 semapv:UnspecifiedMatching Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref UMLS:C0043116 semapv:UnspecifiedMatching +Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref icd11:8B61.0 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MESH:C538523 semapv:UnspecifiedMatching @@ -31545,49 +36792,63 @@ Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067531 Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref UMLS:C2931872 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref icd11:5C56.4 semapv:UnspecifiedMatching Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref UMLS:C0393538 semapv:UnspecifiedMatching +Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref icd11:8B61.1 semapv:UnspecifiedMatching Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C0152109 semapv:UnspecifiedMatching +Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref icd11:8B61.2 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref MESH:C563948 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS:C1838230 semapv:UnspecifiedMatching +Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref icd11:8B61.3 semapv:UnspecifiedMatching +Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref UMLS:C0206554 semapv:UnspecifiedMatching +Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref icd11:DA07.3 semapv:UnspecifiedMatching Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref MESH:C537063 semapv:UnspecifiedMatching Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref UMLS:C0555197 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref icd11:DA07.3 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref MESH:D020918 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref MedDRA:10064332 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref UMLS:C0458219 semapv:UnspecifiedMatching Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref icd11:MG30.04 semapv:UnspecifiedMatching Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref UMLS:C3873472 semapv:UnspecifiedMatching +Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref icd11:EA91.3 semapv:UnspecifiedMatching Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref MESH:C536827 semapv:UnspecifiedMatching Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref MedDRA:10018381 semapv:UnspecifiedMatching Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref OMIM:138000 semapv:UnspecifiedMatching Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref UMLS:C1841984 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref icd11:LC51 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref ICD10:Q12.3 semapv:UnspecifiedMatching Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref ICD10:Q12.3 semapv:UnspecifiedMatching Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref MESH:C537786 semapv:UnspecifiedMatching Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref MedDRA:10002947 semapv:UnspecifiedMatching Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref UMLS:C1853230 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref icd11:LA12.2 semapv:UnspecifiedMatching Orphanet:83463 Microtia oboInOwl:hasDbXref ICD10:Q17.2 semapv:UnspecifiedMatching Orphanet:83463 Microtia oboInOwl:hasDbXref ICD10:Q17.2 semapv:UnspecifiedMatching Orphanet:83463 Microtia oboInOwl:hasDbXref MESH:D065817 semapv:UnspecifiedMatching @@ -31595,6 +36856,7 @@ Orphanet:83463 Microtia oboInOwl:hasDbXref MedDRA:10027555 semapv:UnspecifiedMat Orphanet:83463 Microtia oboInOwl:hasDbXref OMIM:128800 semapv:UnspecifiedMatching Orphanet:83463 Microtia oboInOwl:hasDbXref OMIM:600674 semapv:UnspecifiedMatching Orphanet:83463 Microtia oboInOwl:hasDbXref UMLS:C0152423 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref icd11:LA22.0 semapv:UnspecifiedMatching Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref UMLS:C1456240 semapv:UnspecifiedMatching @@ -31614,6 +36876,7 @@ Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MESH:D0584 Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MedDRA:10064581 semapv:UnspecifiedMatching Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref UMLS:C0281508 semapv:UnspecifiedMatching Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref ICD10:D81.4 semapv:UnspecifiedMatching +Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref ICD10:D81.4 semapv:UnspecifiedMatching Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref MESH:C536288 semapv:UnspecifiedMatching Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref OMIM:242700 semapv:UnspecifiedMatching Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref UMLS:C0152094 semapv:UnspecifiedMatching @@ -31632,10 +36895,12 @@ Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref ICD10:A92.3 semapv:Unsp Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref OMIM:610379 semapv:UnspecifiedMatching Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref UMLS:C0751583 semapv:UnspecifiedMatching +Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref icd11:1C80 semapv:UnspecifiedMatching Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref ICD10:B96.0 semapv:UnspecifiedMatching Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref ICD10:B96.0 semapv:UnspecifiedMatching Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref UMLS:C4707240 semapv:UnspecifiedMatching Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref ICD10:A83.5 semapv:UnspecifiedMatching +Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref ICD10:A83.5 semapv:UnspecifiedMatching Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref MESH:D004670 semapv:UnspecifiedMatching Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref MedDRA:10014584 semapv:UnspecifiedMatching Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref UMLS:C0276379 semapv:UnspecifiedMatching @@ -31669,15 +36934,20 @@ Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref ICD10:G04 Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref MESH:D004673 semapv:UnspecifiedMatching Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref MedDRA:10000709 semapv:UnspecifiedMatching Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS:C0014059 semapv:UnspecifiedMatching +Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref icd11:8A42 semapv:UnspecifiedMatching +Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref MedDRA:10052369 semapv:UnspecifiedMatching Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref UMLS:C0014040 semapv:UnspecifiedMatching +Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref icd11:1C80 semapv:UnspecifiedMatching +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref MESH:C535841 semapv:UnspecifiedMatching Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref MedDRA:10069432 semapv:UnspecifiedMatching Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref UMLS:C0393639 semapv:UnspecifiedMatching Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:B06.0+ semapv:UnspecifiedMatching +Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:B06.0+ semapv:UnspecifiedMatching Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref UMLS:C0238099 semapv:UnspecifiedMatching @@ -31687,10 +36957,12 @@ Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatiti Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref UMLS:C4302680 semapv:UnspecifiedMatching Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref UMLS:C4509840 semapv:UnspecifiedMatching Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref MESH:C563673 semapv:UnspecifiedMatching Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref OMIM:610370 semapv:UnspecifiedMatching Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref UMLS:C1835888 semapv:UnspecifiedMatching @@ -31700,6 +36972,7 @@ Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspecified Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref UMLS:C4510867 semapv:UnspecifiedMatching Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:300232 semapv:UnspecifiedMatching Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4304743 semapv:UnspecifiedMatching Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -31708,9 +36981,12 @@ Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol d Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref UMLS:C4510605 semapv:UnspecifiedMatching Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching +Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref MESH:C567144 semapv:UnspecifiedMatching Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref OMIM:206100 semapv:UnspecifiedMatching Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref UMLS:C2673913 semapv:UnspecifiedMatching +Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref icd11:3A00.Y semapv:UnspecifiedMatching +Orphanet:838 Susac syndrome oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching Orphanet:838 Susac syndrome oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching Orphanet:838 Susac syndrome oboInOwl:hasDbXref MESH:D055955 semapv:UnspecifiedMatching Orphanet:838 Susac syndrome oboInOwl:hasDbXref MedDRA:10071573 semapv:UnspecifiedMatching @@ -31747,6 +37023,7 @@ Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617244 semapv:UnspecifiedMatc Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617247 semapv:UnspecifiedMatching Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617883 semapv:UnspecifiedMatching Orphanet:84 Fanconi anemia oboInOwl:hasDbXref UMLS:C0015625 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref icd11:3A70.0 semapv:UnspecifiedMatching Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref MedDRA:10042926 semapv:UnspecifiedMatching @@ -31758,16 +37035,21 @@ Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref MESH:C565627 semapv:Unspeci Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:222470 semapv:UnspecifiedMatching Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:614602 semapv:UnspecifiedMatching Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref UMLS:C1857276 semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref icd11:DA90.0 semapv:UnspecifiedMatching Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref UMLS:C4274509 semapv:UnspecifiedMatching +Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref icd11:DA96.02 semapv:UnspecifiedMatching +Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:613550 semapv:UnspecifiedMatching Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:616217 semapv:UnspecifiedMatching Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref UMLS:C4274018 semapv:UnspecifiedMatching Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref icd11:GB8Y semapv:UnspecifiedMatching Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching +Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref UMLS:C1997362 semapv:UnspecifiedMatching +Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref icd11:GC01.Y semapv:UnspecifiedMatching Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref UMLS:C3872695 semapv:UnspecifiedMatching @@ -31777,20 +37059,26 @@ Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref MESH:C536826 semapv Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:137950 semapv:UnspecifiedMatching Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:601894 semapv:UnspecifiedMatching Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref UMLS:C3888104 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref icd11:MF81 semapv:UnspecifiedMatching +Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref MESH:C566575 semapv:UnspecifiedMatching Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref OMIM:602107 semapv:UnspecifiedMatching Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref UMLS:C1865856 semapv:UnspecifiedMatching +Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref MESH:D062685 semapv:UnspecifiedMatching Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref MedDRA:10048905 semapv:UnspecifiedMatching Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref OMIM:184500 semapv:UnspecifiedMatching Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref UMLS:C0259771 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref icd11:2F22 semapv:UnspecifiedMatching Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref UMLS:C4275073 semapv:UnspecifiedMatching +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref icd11:4A41.21 semapv:UnspecifiedMatching +Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref MESH:D020386 semapv:UnspecifiedMatching Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref UMLS:C0242287 semapv:UnspecifiedMatching @@ -31800,6 +37088,8 @@ Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref ICD10:C6 Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C5551428 semapv:UnspecifiedMatching Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref icd11:2C80.2 semapv:UnspecifiedMatching +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching @@ -31808,6 +37098,8 @@ Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MESH:D008151 semapv: Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MedDRA:10024984 semapv:UnspecifiedMatching Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 semapv:UnspecifiedMatching Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C0024054 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref icd11:BC81.Y semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 semapv:UnspecifiedMatching Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref MedDRA:10043147 semapv:UnspecifiedMatching @@ -31815,12 +37107,14 @@ Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:Unspecified Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C0039373 semapv:UnspecifiedMatching Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MedDRA:10043390 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref UMLS:C0002312 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref icd11:3A50.0 semapv:UnspecifiedMatching Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref MESH:C538258 semapv:UnspecifiedMatching Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10082291 semapv:UnspecifiedMatching Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching @@ -31828,6 +37122,7 @@ Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOw Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1845055 semapv:UnspecifiedMatching Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref icd11:3A50.1 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MedDRA:10043391 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching @@ -31841,6 +37136,7 @@ Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:619267 semapv:Unsp Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref UMLS:C0040015 semapv:UnspecifiedMatching Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref MedDRA:10081457 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching @@ -31850,20 +37146,25 @@ Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:613673 s Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:619789 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C0002876 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref icd11:3B64.01 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:188025 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:617443 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref UMLS:C1956093 semapv:UnspecifiedMatching +Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref icd11:3B64.01 semapv:UnspecifiedMatching Orphanet:85102 Perineurioma oboInOwl:hasDbXref UMLS:C0751691 semapv:UnspecifiedMatching Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref MESH:C536841 semapv:UnspecifiedMatching Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 semapv:UnspecifiedMatching Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C1858680 semapv:UnspecifiedMatching +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching +Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref OMIM:610644 semapv:UnspecifiedMatching Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref UMLS:C5680209 semapv:UnspecifiedMatching @@ -31872,10 +37173,13 @@ Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:U Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref MESH:C564392 semapv:UnspecifiedMatching Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref OMIM:607475 semapv:UnspecifiedMatching Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref UMLS:C1843816 semapv:UnspecifiedMatching +Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref MESH:C567845 semapv:UnspecifiedMatching Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref OMIM:612951 semapv:UnspecifiedMatching Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref UMLS:C2751843 semapv:UnspecifiedMatching +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref icd11:5C55.2 semapv:UnspecifiedMatching Orphanet:85138 Addison disease oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching Orphanet:85138 Addison disease oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching Orphanet:85138 Addison disease oboInOwl:hasDbXref MESH:D000224 semapv:UnspecifiedMatching @@ -31885,23 +37189,28 @@ Orphanet:85138 Addison disease oboInOwl:hasDbXref OMIM:240200 semapv:Unspecified Orphanet:85138 Addison disease oboInOwl:hasDbXref UMLS:C0001403 semapv:UnspecifiedMatching Orphanet:85138 Addison disease oboInOwl:hasDbXref icd11:5A74.0 semapv:UnspecifiedMatching Orphanet:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref MESH:C566695 semapv:UnspecifiedMatching Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref OMIM:181400 semapv:UnspecifiedMatching Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref UMLS:C1867005 semapv:UnspecifiedMatching Orphanet:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref UMLS:C4509818 semapv:UnspecifiedMatching Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref MESH:C567166 semapv:UnspecifiedMatching Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref OMIM:610532 semapv:UnspecifiedMatching Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref UMLS:C1864663 semapv:UnspecifiedMatching Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref MESH:C537975 semapv:UnspecifiedMatching Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 semapv:UnspecifiedMatching Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS:C1864852 semapv:UnspecifiedMatching Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching +Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref MedDRA:10082381 semapv:UnspecifiedMatching Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:616482 semapv:UnspecifiedMatching Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2674173 semapv:UnspecifiedMatching @@ -31910,18 +37219,21 @@ Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref ICD10: Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref MESH:C563627 semapv:UnspecifiedMatching Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref OMIM:151210 semapv:UnspecifiedMatching Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref UMLS:C1835437 semapv:UnspecifiedMatching +Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref OMIM:608940 semapv:UnspecifiedMatching Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref UMLS:C4304887 semapv:UnspecifiedMatching Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching Orphanet:85168 Craniofacial conodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:85168 Craniofacial conodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:85168 Craniofacial conodysplasia oboInOwl:hasDbXref UMLS:C4303862 semapv:UnspecifiedMatching Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref ICD10:M06.8 semapv:UnspecifiedMatching Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref ICD10:M06.8 semapv:UnspecifiedMatching Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref MESH:C564656 semapv:UnspecifiedMatching Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref OMIM:606835 semapv:UnspecifiedMatching Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref UMLS:C1847406 semapv:UnspecifiedMatching +Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref MESH:C565349 semapv:UnspecifiedMatching @@ -31934,9 +37246,11 @@ Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOw Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref UMLS:C4509877 semapv:UnspecifiedMatching Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref MESH:C564543 semapv:UnspecifiedMatching Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref UMLS:C1846009 semapv:UnspecifiedMatching +Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref MESH:C535826 semapv:UnspecifiedMatching @@ -31944,12 +37258,17 @@ Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref OMIM:264180 semapv Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref UMLS:C0432206 semapv:UnspecifiedMatching Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref MESH:C535392 semapv:UnspecifiedMatching Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref UMLS:C1300228 semapv:UnspecifiedMatching +Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:600329 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref UMLS:C4510764 semapv:UnspecifiedMatching +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref MESH:C536169 semapv:UnspecifiedMatching Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref OMIM:112250 semapv:UnspecifiedMatching @@ -31967,6 +37286,7 @@ Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDb Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref UMLS:C3280644 semapv:UnspecifiedMatching Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref MESH:C565271 semapv:UnspecifiedMatching Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref OMIM:605946 semapv:UnspecifiedMatching Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref UMLS:C1853825 semapv:UnspecifiedMatching @@ -31977,10 +37297,13 @@ Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref MESH:C537343 semapv Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref OMIM:182250 semapv:UnspecifiedMatching Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref OMIM:616298 semapv:UnspecifiedMatching Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref UMLS:C0432254 semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref MESH:C565089 semapv:UnspecifiedMatching Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref OMIM:126550 semapv:UnspecifiedMatching Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref UMLS:C1852022 semapv:UnspecifiedMatching +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD10:M81.5 semapv:UnspecifiedMatching Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD10:M81.5 semapv:UnspecifiedMatching Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref MESH:C537700 semapv:UnspecifiedMatching @@ -31990,19 +37313,25 @@ Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:615221 s Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS:C0264080 semapv:UnspecifiedMatching Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref icd11:FB83.1Y semapv:UnspecifiedMatching Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref OMIM:605822 semapv:UnspecifiedMatching Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref UMLS:C4225412 semapv:UnspecifiedMatching +Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching +Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref UMLS:C5438970 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref UMLS:C4302548 semapv:UnspecifiedMatching Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -32019,6 +37348,7 @@ Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref UMLS:C4274732 semapv:UnspecifiedMatching +Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref MESH:C565255 semapv:UnspecifiedMatching @@ -32038,9 +37368,11 @@ Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref OMIM:605967 semapv:Unspe Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref UMLS:C1853812 semapv:UnspecifiedMatching Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref icd11:LB73.13 semapv:UnspecifiedMatching Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref MESH:C564306 semapv:UnspecifiedMatching Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref UMLS:C1842704 semapv:UnspecifiedMatching +Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref MESH:C535556 semapv:UnspecifiedMatching @@ -32054,7 +37386,9 @@ Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref O Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS:C1846170 semapv:UnspecifiedMatching Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1844948 semapv:UnspecifiedMatching +Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD21.0 semapv:UnspecifiedMatching Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref OMIM:300261 semapv:UnspecifiedMatching @@ -32153,6 +37487,7 @@ Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref ICD10:G25.5 semap Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref UMLS:C5680206 semapv:UnspecifiedMatching +Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref icd11:5C52.01 semapv:UnspecifiedMatching Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref MESH:C537315 semapv:UnspecifiedMatching @@ -32180,6 +37515,7 @@ Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type obo Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref MESH:C564495 semapv:UnspecifiedMatching Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref OMIM:300519 semapv:UnspecifiedMatching Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref UMLS:C1845285 semapv:UnspecifiedMatching +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref UMLS:C4305026 semapv:UnspecifiedMatching @@ -32187,6 +37523,7 @@ Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref icd Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref UMLS:C4305088 semapv:UnspecifiedMatching +Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref MESH:C567474 semapv:UnspecifiedMatching @@ -32236,6 +37573,7 @@ Orphanet:85335 Fried syndrome oboInOwl:hasDbXref UMLS:C4305134 semapv:Unspecifie Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref UMLS:C4305135 semapv:UnspecifiedMatching +Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching @@ -32246,6 +37584,7 @@ Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref ICD10:I81 semap Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref ICD10:I81 semapv:UnspecifiedMatching Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref MedDRA:10036206 semapv:UnspecifiedMatching Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref UMLS:C0155773 semapv:UnspecifiedMatching +Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref icd11:DB98.3 semapv:UnspecifiedMatching Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.3 semapv:UnspecifiedMatching Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.3 semapv:UnspecifiedMatching Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3890205 semapv:UnspecifiedMatching @@ -32256,26 +37595,33 @@ Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref M Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C2931171 semapv:UnspecifiedMatching Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.0 semapv:UnspecifiedMatching Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.2 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.2 semapv:UnspecifiedMatching Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref MedDRA:10042061 semapv:UnspecifiedMatching Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:618795 semapv:UnspecifiedMatching Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0087031 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.4 semapv:UnspecifiedMatching +Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.0 semapv:UnspecifiedMatching Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.0 semapv:UnspecifiedMatching Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C4048747 semapv:UnspecifiedMatching Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.1 semapv:UnspecifiedMatching Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:L40.5+ semapv:UnspecifiedMatching Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:L40.5+ semapv:UnspecifiedMatching Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M09.0* semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M09.0* semapv:UnspecifiedMatching Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref MedDRA:10076674 semapv:UnspecifiedMatching Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3714758 semapv:UnspecifiedMatching Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.2 semapv:UnspecifiedMatching Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3495919 semapv:UnspecifiedMatching +Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.3 semapv:UnspecifiedMatching +Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref OMIM:262700 semapv:UnspecifiedMatching Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref UMLS:C4303613 semapv:UnspecifiedMatching Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref MESH:D000075363 semapv:UnspecifiedMatching @@ -32284,30 +37630,43 @@ Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedM Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref UMLS:C0268381 semapv:UnspecifiedMatching Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching +Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref MESH:C000718787 semapv:UnspecifiedMatching Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref MedDRA:10039811 semapv:UnspecifiedMatching Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref UMLS:C3536715 semapv:UnspecifiedMatching +Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref icd11:5D00.1 semapv:UnspecifiedMatching +Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref UMLS:C0268405 semapv:UnspecifiedMatching +Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref icd11:5D00.3 semapv:UnspecifiedMatching +Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref OMIM:105120 semapv:UnspecifiedMatching Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref UMLS:C0936273 semapv:UnspecifiedMatching +Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching +Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref UMLS:C0268389 semapv:UnspecifiedMatching +Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching +Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref UMLS:C4275067 semapv:UnspecifiedMatching Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:E85.0+ semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:E85.0+ semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref MESH:C564461 semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C1845050 semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref icd11:5D00.Y semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching @@ -32318,6 +37677,7 @@ Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXre Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching Orphanet:856 NON RARE IN EUROPE: Tourette syndrome oboInOwl:hasDbXref ICD10:F95.2 semapv:UnspecifiedMatching +Orphanet:856 NON RARE IN EUROPE: Tourette syndrome oboInOwl:hasDbXref ICD10:F95.2 semapv:UnspecifiedMatching Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref MESH:C536974 semapv:UnspecifiedMatching @@ -32326,29 +37686,38 @@ Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref OMIM:617466 semapv:Unspec Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref UMLS:C0265246 semapv:UnspecifiedMatching Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref ICD10:P37.1 semapv:UnspecifiedMatching +Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref ICD10:P37.1 semapv:UnspecifiedMatching Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 semapv:UnspecifiedMatching Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref MedDRA:10010652 semapv:UnspecifiedMatching Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref UMLS:C0040560 semapv:UnspecifiedMatching +Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref icd11:KA64.0 semapv:UnspecifiedMatching +Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref ICD10:D51.2 semapv:UnspecifiedMatching Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref ICD10:D51.2 semapv:UnspecifiedMatching Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref MedDRA:10084086 semapv:UnspecifiedMatching Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref OMIM:275350 semapv:UnspecifiedMatching Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref UMLS:C0342701 semapv:UnspecifiedMatching Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref icd11:3A01.0 semapv:UnspecifiedMatching Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref ICD10:I71.4 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref ICD10:I71.4 semapv:UnspecifiedMatching Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 semapv:UnspecifiedMatching Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref UMLS:C4275172 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref icd11:BD50.4Z semapv:UnspecifiedMatching +Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref OMIM:608808 semapv:UnspecifiedMatching Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref OMIM:613854 semapv:UnspecifiedMatching Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref UMLS:C3531771 semapv:UnspecifiedMatching +Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref icd11:LA85.1 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:154500 semapv:UnspecifiedMatching Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:248390 semapv:UnspecifiedMatching Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:613717 semapv:UnspecifiedMatching Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:618939 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching Orphanet:863 Trichinellosis oboInOwl:hasDbXref ICD10:B75 semapv:UnspecifiedMatching @@ -32356,6 +37725,7 @@ Orphanet:863 Trichinellosis oboInOwl:hasDbXref ICD10:B75 semapv:UnspecifiedMatch Orphanet:863 Trichinellosis oboInOwl:hasDbXref MESH:D014235 semapv:UnspecifiedMatching Orphanet:863 Trichinellosis oboInOwl:hasDbXref MedDRA:10044608 semapv:UnspecifiedMatching Orphanet:863 Trichinellosis oboInOwl:hasDbXref UMLS:C0040896 semapv:UnspecifiedMatching +Orphanet:863 Trichinellosis oboInOwl:hasDbXref icd11:1F6E semapv:UnspecifiedMatching Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref MESH:C535748 semapv:UnspecifiedMatching @@ -32376,6 +37746,7 @@ Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.5 Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref OMIM:601606 semapv:UnspecifiedMatching Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref OMIM:612099 semapv:UnspecifiedMatching Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref UMLS:C1275122 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref icd11:2F22 semapv:UnspecifiedMatching Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C564539 semapv:UnspecifiedMatching @@ -32387,22 +37758,29 @@ Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv: Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref MESH:C535568 semapv:UnspecifiedMatching Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref OMIM:168860 semapv:UnspecifiedMatching Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C1868577 semapv:UnspecifiedMatching +Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref icd11:LB95 semapv:UnspecifiedMatching Orphanet:86795 Localized lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref UMLS:C4510874 semapv:UnspecifiedMatching Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref OMIM:615512 semapv:UnspecifiedMatching Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref UMLS:C0398562 semapv:UnspecifiedMatching +Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching +Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref OMIM:609308 semapv:UnspecifiedMatching Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref UMLS:C1836373 semapv:UnspecifiedMatching +Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref MESH:C566236 semapv:UnspecifiedMatching Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref UMLS:C1862382 semapv:UnspecifiedMatching +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:601068 semapv:UnspecifiedMatching Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:607876 semapv:UnspecifiedMatching @@ -32412,18 +37790,24 @@ Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM: Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref UMLS:C4273988 semapv:UnspecifiedMatching Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref icd11:8A61.32 semapv:UnspecifiedMatching Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q10.4 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q10.4 semapv:UnspecifiedMatching Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q38.4 semapv:UnspecifiedMatching Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q38.4 semapv:UnspecifiedMatching Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref MESH:C562407 semapv:UnspecifiedMatching Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS:C0158667 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref icd11:LA14.10 semapv:UnspecifiedMatching +Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref ICD10:R77.0 semapv:UnspecifiedMatching Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref ICD10:R77.0 semapv:UnspecifiedMatching Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref OMIM:616000 semapv:UnspecifiedMatching Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref UMLS:C4305253 semapv:UnspecifiedMatching +Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref icd11:5D0Y semapv:UnspecifiedMatching +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref MESH:C567228 semapv:UnspecifiedMatching Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref OMIM:612631 semapv:UnspecifiedMatching Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref UMLS:C2675459 semapv:UnspecifiedMatching +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref MESH:C564570 semapv:UnspecifiedMatching @@ -32431,22 +37815,27 @@ Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-ellipt Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300990 semapv:UnspecifiedMatching Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref UMLS:C1846242 semapv:UnspecifiedMatching Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching +Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref MESH:C565924 semapv:UnspecifiedMatching Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 semapv:UnspecifiedMatching Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref UMLS:C1859592 semapv:UnspecifiedMatching Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref icd11:EC21.2 semapv:UnspecifiedMatching Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching +Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:608805 semapv:UnspecifiedMatching Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:617383 semapv:UnspecifiedMatching Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref UMLS:C4275066 semapv:UnspecifiedMatching +Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref OMIM:601160 semapv:UnspecifiedMatching Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref UMLS:C4305255 semapv:UnspecifiedMatching +Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref OMIM:601160 semapv:UnspecifiedMatching Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref UMLS:C4305254 semapv:UnspecifiedMatching +Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:86823 Lissencephaly with cerebellar hypoplasia oboInOwl:hasDbXref UMLS:C4274995 semapv:UnspecifiedMatching Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching @@ -32479,16 +37868,21 @@ Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromos Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref MedDRA:10067096 semapv:UnspecifiedMatching Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref OMIM:153550 semapv:UnspecifiedMatching Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref UMLS:C1292779 semapv:UnspecifiedMatching +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref icd11:2A36 semapv:UnspecifiedMatching +Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref ICD10:C94.4 semapv:UnspecifiedMatching Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref ICD10:C94.4 semapv:UnspecifiedMatching Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref MedDRA:10000879 semapv:UnspecifiedMatching Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref UMLS:C0334674 semapv:UnspecifiedMatching Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref icd11:2A60.38 semapv:UnspecifiedMatching Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching +Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref UMLS:C1292773 semapv:UnspecifiedMatching Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref icd11:2A60.1 semapv:UnspecifiedMatching Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C1292776 semapv:UnspecifiedMatching +Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref icd11:2A60.20 semapv:UnspecifiedMatching +Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref MESH:D015471 semapv:UnspecifiedMatching Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref UMLS:C0023437 semapv:UnspecifiedMatching @@ -32503,6 +37897,7 @@ Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref ICD10:C95. Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref UMLS:C1301357 semapv:UnspecifiedMatching +Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref icd11:2A61 semapv:UnspecifiedMatching Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.3 semapv:UnspecifiedMatching Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.3 semapv:UnspecifiedMatching Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D054403 semapv:UnspecifiedMatching @@ -32513,6 +37908,8 @@ Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref ICD10:C83.0 sem Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref MedDRA:10062113 semapv:UnspecifiedMatching Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0349632 semapv:UnspecifiedMatching +Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref icd11:2A82.Y semapv:UnspecifiedMatching +Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref icd11:XH0MV1 semapv:UnspecifiedMatching Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching @@ -32525,6 +37922,8 @@ Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref UMLS:C5394673 semapv:UnspecifiedMatching Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MESH:D006362 semapv:UnspecifiedMatching Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MedDRA:10019350 semapv:UnspecifiedMatching @@ -32538,20 +37937,27 @@ Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref MedDRA:100 Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref UMLS:C0855139 semapv:UnspecifiedMatching Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref icd11:2A85.0 semapv:UnspecifiedMatching Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching +Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MESH:D008230 semapv:UnspecifiedMatching Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MedDRA:10025325 semapv:UnspecifiedMatching Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS:C0024307 semapv:UnspecifiedMatching Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref icd11:2A81.3 semapv:UnspecifiedMatching Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref ICD10:C86.4 semapv:UnspecifiedMatching +Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref ICD10:C86.4 semapv:UnspecifiedMatching Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref UMLS:C1301363 semapv:UnspecifiedMatching Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref icd11:2A60.5 semapv:UnspecifiedMatching Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.6 semapv:UnspecifiedMatching +Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.6 semapv:UnspecifiedMatching Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015461 semapv:UnspecifiedMatching Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MedDRA:10042985 semapv:UnspecifiedMatching Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C2363142 semapv:UnspecifiedMatching +Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref icd11:2A90.0 semapv:UnspecifiedMatching +Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MedDRA:10065862 semapv:UnspecifiedMatching Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref UMLS:C1955861 semapv:UnspecifiedMatching +Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref icd11:2A90.1 semapv:UnspecifiedMatching +Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref MedDRA:10028811 semapv:UnspecifiedMatching Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS:C1292777 semapv:UnspecifiedMatching @@ -32563,16 +37969,19 @@ Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MedDRA:10001413 Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0023493 semapv:UnspecifiedMatching Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref icd11:2A90.5 semapv:UnspecifiedMatching Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref ICD10:C86.0 semapv:UnspecifiedMatching +Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref ICD10:C86.0 semapv:UnspecifiedMatching Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MESH:D054391 semapv:UnspecifiedMatching Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MedDRA:10065855 semapv:UnspecifiedMatching Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref UMLS:C0392788 semapv:UnspecifiedMatching Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref icd11:2A90.6 semapv:UnspecifiedMatching Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 semapv:UnspecifiedMatching +Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 semapv:UnspecifiedMatching Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MESH:D058527 semapv:UnspecifiedMatching Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MedDRA:10022703 semapv:UnspecifiedMatching Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref UMLS:C0456889 semapv:UnspecifiedMatching Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.7 semapv:UnspecifiedMatching Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.1 semapv:UnspecifiedMatching +Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.1 semapv:UnspecifiedMatching Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10066957 semapv:UnspecifiedMatching Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref UMLS:C1333984 semapv:UnspecifiedMatching Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.8 semapv:UnspecifiedMatching @@ -32581,11 +37990,13 @@ Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref UMLS:C0522624 semapv:UnspecifiedMatching Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref icd11:2B00 semapv:UnspecifiedMatching Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MESH:D016411 semapv:UnspecifiedMatching Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MedDRA:10034623 semapv:UnspecifiedMatching Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref UMLS:C0079774 semapv:UnspecifiedMatching Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref icd11:2A90.C semapv:UnspecifiedMatching Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.5 semapv:UnspecifiedMatching +Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.5 semapv:UnspecifiedMatching Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10002449 semapv:UnspecifiedMatching Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS:C0020981 semapv:UnspecifiedMatching Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.9 semapv:UnspecifiedMatching @@ -32601,9 +38012,11 @@ Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref MedDRA:10076876 semapv:Uns Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref UMLS:C0334663 semapv:UnspecifiedMatching Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref icd11:2B31.1 semapv:UnspecifiedMatching Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 semapv:UnspecifiedMatching Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MedDRA:10078782 semapv:UnspecifiedMatching Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS:C1260327 semapv:UnspecifiedMatching +Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref icd11:2B31.3 semapv:UnspecifiedMatching Orphanet:869 Triple A syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:869 Triple A syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching Orphanet:869 Triple A syndrome oboInOwl:hasDbXref MESH:C536008 semapv:UnspecifiedMatching @@ -32611,34 +38024,47 @@ Orphanet:869 Triple A syndrome oboInOwl:hasDbXref MedDRA:10073592 semapv:Unspeci Orphanet:869 Triple A syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching Orphanet:869 Triple A syndrome oboInOwl:hasDbXref OMIM:615510 semapv:UnspecifiedMatching Orphanet:869 Triple A syndrome oboInOwl:hasDbXref UMLS:C0271742 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054739 semapv:UnspecifiedMatching Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MedDRA:10038804 semapv:UnspecifiedMatching Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260326 semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref icd11:2B31.4 semapv:UnspecifiedMatching +Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054740 semapv:UnspecifiedMatching Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MedDRA:10075332 semapv:UnspecifiedMatching Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260325 semapv:UnspecifiedMatching +Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref icd11:2B31.5 semapv:UnspecifiedMatching +Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref UMLS:C1301364 semapv:UnspecifiedMatching +Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref icd11:2B31.Y semapv:UnspecifiedMatching Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref icd11:XH8Q19 semapv:UnspecifiedMatching Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref UMLS:C1334749 semapv:UnspecifiedMatching +Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref icd11:2B32.Y semapv:UnspecifiedMatching Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref UMLS:C4707883 semapv:UnspecifiedMatching Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref MedDRA:10085010 semapv:UnspecifiedMatching Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref UMLS:C0549118 semapv:UnspecifiedMatching Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref icd11:8A62.Y semapv:UnspecifiedMatching Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref UMLS:C0751120 semapv:UnspecifiedMatching +Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref icd11:8A61.1Y semapv:UnspecifiedMatching +Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref UMLS:C0393703 semapv:UnspecifiedMatching Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref icd11:8A61.23 semapv:UnspecifiedMatching Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies oboInOwl:hasDbXref UMLS:C4755298 semapv:UnspecifiedMatching Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching @@ -32651,8 +38077,10 @@ Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref UMLS:C2677167 semapv:UnspecifiedMatching Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref UMLS:C4303588 semapv:UnspecifiedMatching Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref OMIM:148520 semapv:UnspecifiedMatching Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref UMLS:C4510514 semapv:UnspecifiedMatching Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching @@ -32661,6 +38089,7 @@ Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C535 Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 semapv:UnspecifiedMatching Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS:C0406778 semapv:UnspecifiedMatching Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref OMIM:244850 semapv:UnspecifiedMatching Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref UMLS:C4273986 semapv:UnspecifiedMatching Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref icd11:EC20.3 semapv:UnspecifiedMatching @@ -32677,10 +38106,13 @@ Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.1 semapv:UnspecifiedMatc Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.2 semapv:UnspecifiedMatching Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.2 semapv:UnspecifiedMatching Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.9 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.9 semapv:UnspecifiedMatching Orphanet:870 Down syndrome oboInOwl:hasDbXref MESH:D004314 semapv:UnspecifiedMatching Orphanet:870 Down syndrome oboInOwl:hasDbXref MedDRA:10044688 semapv:UnspecifiedMatching Orphanet:870 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching Orphanet:870 Down syndrome oboInOwl:hasDbXref UMLS:C0013080 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref icd11:LD40.0 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref MESH:C566873 semapv:UnspecifiedMatching Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:113900 semapv:UnspecifiedMatching @@ -32689,6 +38121,7 @@ Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref O Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:604559 semapv:UnspecifiedMatching Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref UMLS:C1879286 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref icd11:BC63.Y semapv:UnspecifiedMatching Orphanet:87277 Rare intellectual disability oboInOwl:hasDbXref UMLS:C5681429 semapv:UnspecifiedMatching Orphanet:873 Desmoid tumor oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching Orphanet:873 Desmoid tumor oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching @@ -32699,34 +38132,44 @@ Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:Uns Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref UMLS:C4275152 semapv:UnspecifiedMatching +Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref icd11:2F01 semapv:UnspecifiedMatching Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref UMLS:C4274356 semapv:UnspecifiedMatching +Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref icd11:2F01 semapv:UnspecifiedMatching +Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref OMIM:248300 semapv:UnspecifiedMatching Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref UMLS:C0025221 semapv:UnspecifiedMatching Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref MESH:D018240 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref MedDRA:10048251 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref UMLS:C0014145 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref icd11:2F34 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref icd11:XH09W7 semapv:UnspecifiedMatching Orphanet:877 Neuroendocrine neoplasm oboInOwl:hasDbXref MESH:D018358 semapv:UnspecifiedMatching Orphanet:877 Neuroendocrine neoplasm oboInOwl:hasDbXref MedDRA:10052399 semapv:UnspecifiedMatching Orphanet:877 Neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C0206754 semapv:UnspecifiedMatching Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256150 semapv:UnspecifiedMatching Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref UMLS:C3888317 semapv:UnspecifiedMatching Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref UMLS:C5680182 semapv:UnspecifiedMatching Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref ICD10:B88.1 semapv:UnspecifiedMatching +Orphanet:879 Tungiasis oboInOwl:hasDbXref ICD10:B88.1 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref MESH:D058285 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref UMLS:C0277356 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref icd11:1G05 semapv:UnspecifiedMatching @@ -32738,6 +38181,7 @@ Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:Uns Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614742 semapv:UnspecifiedMatching Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614743 semapv:UnspecifiedMatching Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref UMLS:C0348890 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref icd11:3A70.12 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.0 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.0 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching @@ -32745,17 +38189,23 @@ Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMa Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref MESH:D014424 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref MedDRA:10045181 semapv:UnspecifiedMatching Orphanet:881 Turner syndrome oboInOwl:hasDbXref UMLS:C0041408 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref icd11:LD50.0 semapv:UnspecifiedMatching Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref MedDRA:10069462 semapv:UnspecifiedMatching Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref OMIM:276700 semapv:UnspecifiedMatching Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref UMLS:C0268490 semapv:UnspecifiedMatching +Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref icd11:5C50.11 semapv:UnspecifiedMatching Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching @@ -32767,6 +38217,7 @@ Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref MESH:C538105 semapv:UnspecifiedMat Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref MedDRA:10080297 semapv:UnspecifiedMatching Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref OMIM:601803 semapv:UnspecifiedMatching Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref UMLS:C0265449 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:886 Usher syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:886 Usher syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:886 Usher syndrome oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching @@ -32787,6 +38238,7 @@ Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMat Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching Orphanet:886 Usher syndrome oboInOwl:hasDbXref UMLS:C0271097 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref icd11:LD2H.4 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching @@ -32843,11 +38295,14 @@ Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOw Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618687 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:619931 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5680181 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref OMIM:613752 semapv:UnspecifiedMatching Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref UMLS:C3151058 semapv:UnspecifiedMatching Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref OMIM:608033 semapv:UnspecifiedMatching Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref UMLS:C4509836 semapv:UnspecifiedMatching Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching @@ -32855,6 +38310,8 @@ Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref ICD10:Q07.8 semapv Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref MESH:C535983 semapv:UnspecifiedMatching Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref OMIM:107200 semapv:UnspecifiedMatching Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref UMLS:C0393778 semapv:UnspecifiedMatching +Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref icd11:CA0Y semapv:UnspecifiedMatching +Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref MESH:C536271 semapv:UnspecifiedMatching Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref OMIM:608649 semapv:UnspecifiedMatching @@ -32871,12 +38328,15 @@ Orphanet:88629 Tritanopia oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatch Orphanet:88629 Tritanopia oboInOwl:hasDbXref UMLS:C0155017 semapv:UnspecifiedMatching Orphanet:88629 Tritanopia oboInOwl:hasDbXref icd11:9D44 semapv:UnspecifiedMatching Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref OMIM:300244 semapv:UnspecifiedMatching Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref UMLS:C4509953 semapv:UnspecifiedMatching +Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref MESH:C537775 semapv:UnspecifiedMatching Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:107250 semapv:UnspecifiedMatching Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:617315 semapv:UnspecifiedMatching Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching +Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref icd11:LA11 semapv:UnspecifiedMatching Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10078410 semapv:UnspecifiedMatching @@ -32887,6 +38347,7 @@ Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref UMLS:C4510368 semapv:UnspecifiedMatching Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref icd11:8C7Y semapv:UnspecifiedMatching Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching +Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref MESH:C567313 semapv:UnspecifiedMatching @@ -32942,6 +38403,8 @@ Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 semapv:Uns Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:620104 semapv:UnspecifiedMatching Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0002452 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref icd11:LA30.6 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MESH:D006528 semapv:UnspecifiedMatching Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MedDRA:10049010 semapv:UnspecifiedMatching @@ -32949,8 +38412,11 @@ Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:Un Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C2239176 semapv:UnspecifiedMatching Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref icd11:2C12.02 semapv:UnspecifiedMatching Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref UMLS:C4225671 semapv:UnspecifiedMatching +Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref icd11:LD2F.11 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref MESH:C536528 semapv:UnspecifiedMatching Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:119300 semapv:UnspecifiedMatching @@ -32966,16 +38432,19 @@ Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Un Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref UMLS:C1567742 semapv:UnspecifiedMatching +Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref MESH:C536586 semapv:UnspecifiedMatching Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref UMLS:C1567743 semapv:UnspecifiedMatching +Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref MESH:C536587 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref UMLS:C1567744 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref OMIM:600273 semapv:UnspecifiedMatching @@ -33000,18 +38469,24 @@ Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref OMIM:614492 se Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref UMLS:C1840391 semapv:UnspecifiedMatching Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C536137 semapv:UnspecifiedMatching Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref icd11:GB82 semapv:UnspecifiedMatching +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C548033 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref icd11:GB82 semapv:UnspecifiedMatching Orphanet:88991 Rare congenital non-syndromic heart malformation oboInOwl:hasDbXref UMLS:C5681450 semapv:UnspecifiedMatching Orphanet:88993 Esophageal malformation oboInOwl:hasDbXref UMLS:C5681451 semapv:UnspecifiedMatching +Orphanet:88993 Esophageal malformation oboInOwl:hasDbXref icd11:LB12 semapv:UnspecifiedMatching Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MESH:D006504 semapv:UnspecifiedMatching Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MedDRA:10047216 semapv:UnspecifiedMatching Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref UMLS:C0019156 semapv:UnspecifiedMatching +Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref icd11:DB98.6 semapv:UnspecifiedMatching Orphanet:89043 Rare dementia oboInOwl:hasDbXref UMLS:C5681447 semapv:UnspecifiedMatching Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching @@ -33026,19 +38501,25 @@ Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:617572 Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C0339539 semapv:UnspecifiedMatching Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref icd11:LA13.3 semapv:UnspecifiedMatching Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 semapv:UnspecifiedMatching Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MedDRA:10047716 semapv:UnspecifiedMatching Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 semapv:UnspecifiedMatching Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C0019562 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref icd11:5A75 semapv:UnspecifiedMatching Orphanet:893 WAGR syndrome oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:893 WAGR syndrome oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:893 WAGR syndrome oboInOwl:hasDbXref MESH:D017624 semapv:UnspecifiedMatching Orphanet:893 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching Orphanet:893 WAGR syndrome oboInOwl:hasDbXref OMIM:612469 semapv:UnspecifiedMatching Orphanet:893 WAGR syndrome oboInOwl:hasDbXref UMLS:C0206115 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching +Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching +Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref MESH:C536463 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching @@ -33048,8 +38529,11 @@ Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:608890 semapv:U Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:619947 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref UMLS:C2700265 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching +Orphanet:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching +Orphanet:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref MESH:C536467 semapv:UnspecifiedMatching @@ -33057,6 +38541,7 @@ Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:277580 semapv:Uns Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613265 semapv:UnspecifiedMatching Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613266 semapv:UnspecifiedMatching Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref UMLS:C1848519 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref icd11:LD2H.3 semapv:UnspecifiedMatching Orphanet:898 Wagner disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:898 Wagner disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:898 Wagner disease oboInOwl:hasDbXref MESH:C536075 semapv:UnspecifiedMatching @@ -33066,6 +38551,7 @@ Orphanet:898 Wagner disease oboInOwl:hasDbXref UMLS:C1840452 semapv:UnspecifiedM Orphanet:898 Wagner disease oboInOwl:hasDbXref icd11:9B80 semapv:UnspecifiedMatching Orphanet:89826 Rare skin disease oboInOwl:hasDbXref UMLS:C5681445 semapv:UnspecifiedMatching Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching @@ -33087,6 +38573,8 @@ Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref IC Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref MESH:C537848 semapv:UnspecifiedMatching Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref OMIM:257320 semapv:UnspecifiedMatching Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref UMLS:C0796089 semapv:UnspecifiedMatching +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref MESH:D058494 semapv:UnspecifiedMatching Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching @@ -33105,12 +38593,17 @@ Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:616538 semapv:Unspe Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref UMLS:C0265221 semapv:UnspecifiedMatching Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref OMIM:307800 semapv:UnspecifiedMatching Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref UMLS:C3540852 semapv:UnspecifiedMatching +Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref icd11:5C63.22 semapv:UnspecifiedMatching +Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref MESH:C562791 semapv:UnspecifiedMatching Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:193100 semapv:UnspecifiedMatching Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0342642 semapv:UnspecifiedMatching +Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref icd11:5C63.22 semapv:UnspecifiedMatching +Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching @@ -33124,10 +38617,12 @@ Orphanet:9 Tetrasomy X oboInOwl:hasDbXref MESH:C536502 semapv:UnspecifiedMatchin Orphanet:9 Tetrasomy X oboInOwl:hasDbXref UMLS:C0265496 semapv:UnspecifiedMatching Orphanet:9 Tetrasomy X oboInOwl:hasDbXref icd11:LD50.Y semapv:UnspecifiedMatching Orphanet:90 Argininemia oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:90 Argininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching Orphanet:90 Argininemia oboInOwl:hasDbXref MedDRA:10062695 semapv:UnspecifiedMatching Orphanet:90 Argininemia oboInOwl:hasDbXref OMIM:207800 semapv:UnspecifiedMatching Orphanet:90 Argininemia oboInOwl:hasDbXref UMLS:C0268548 semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref icd11:5C50.A2 semapv:UnspecifiedMatching Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M31.3 semapv:UnspecifiedMatching Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M31.3 semapv:UnspecifiedMatching Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 semapv:UnspecifiedMatching @@ -33140,25 +38635,33 @@ Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref ICD10:L95.1 semapv: Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MedDRA:10056968 semapv:UnspecifiedMatching Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref UMLS:C0263398 semapv:UnspecifiedMatching +Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref icd11:EF40.2Y semapv:UnspecifiedMatching Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref MESH:C564092 semapv:UnspecifiedMatching Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref OMIM:300843 semapv:UnspecifiedMatching Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref UMLS:C3159311 semapv:UnspecifiedMatching +Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref MESH:D000074079 semapv:UnspecifiedMatching Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref MedDRA:10071575 semapv:UnspecifiedMatching Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref UMLS:C0409999 semapv:UnspecifiedMatching +Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref icd11:LD28.Y semapv:UnspecifiedMatching +Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref UMLS:C1333967 semapv:UnspecifiedMatching +Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref icd11:DB99.Y semapv:UnspecifiedMatching Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref UMLS:C0543859 semapv:UnspecifiedMatching +Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref icd11:6D85.Y semapv:UnspecifiedMatching Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref UMLS:C4706614 semapv:UnspecifiedMatching Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref OMIM:610798 semapv:UnspecifiedMatching Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref UMLS:C4305256 semapv:UnspecifiedMatching Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching @@ -33167,23 +38670,29 @@ Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia obo Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref MESH:C565195 semapv:UnspecifiedMatching Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref OMIM:610706 semapv:UnspecifiedMatching Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref UMLS:C1853144 semapv:UnspecifiedMatching +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref ICD10:Q70 semapv:UnspecifiedMatching Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref ICD10:Q70 semapv:UnspecifiedMatching Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MESH:D013576 semapv:UnspecifiedMatching Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MedDRA:10042778 semapv:UnspecifiedMatching Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref UMLS:C5681365 semapv:UnspecifiedMatching +Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref icd11:LB79 semapv:UnspecifiedMatching Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref MESH:D004916 semapv:UnspecifiedMatching Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref UMLS:C0014805 semapv:UnspecifiedMatching +Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref icd11:EG00 semapv:UnspecifiedMatching +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref OMIM:618660 semapv:UnspecifiedMatching Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref UMLS:C5231513 semapv:UnspecifiedMatching Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref OMIM:235700 semapv:UnspecifiedMatching Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref UMLS:C5681378 semapv:UnspecifiedMatching +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref MedDRA:10047822 semapv:UnspecifiedMatching @@ -33202,25 +38711,33 @@ Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10 Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.0 semapv:UnspecifiedMatching Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref MedDRA:10055213 semapv:UnspecifiedMatching Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0391817 semapv:UnspecifiedMatching +Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref icd11:3A20.Y semapv:UnspecifiedMatching Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching +Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref icd11:3A21.Y semapv:UnspecifiedMatching +Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref icd11:XN108 semapv:UnspecifiedMatching Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref MedDRA:10055019 semapv:UnspecifiedMatching Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref UMLS:C0272080 semapv:UnspecifiedMatching +Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref icd11:3A51.6 semapv:UnspecifiedMatching +Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref MedDRA:10053885 semapv:UnspecifiedMatching Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref UMLS:C0541719 semapv:UnspecifiedMatching Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref icd11:3B61.1 semapv:UnspecifiedMatching Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref ICD10:D75.0 semapv:UnspecifiedMatching +Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref ICD10:D75.0 semapv:UnspecifiedMatching Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref MESH:C536842 semapv:UnspecifiedMatching Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref OMIM:133100 semapv:UnspecifiedMatching Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref UMLS:C4551637 semapv:UnspecifiedMatching +Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref icd11:3A80.0 semapv:UnspecifiedMatching Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref OMIM:609153 semapv:UnspecifiedMatching Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref UMLS:C4273970 semapv:UnspecifiedMatching +Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref icd11:3A10.3 semapv:UnspecifiedMatching Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref MESH:C562799 semapv:UnspecifiedMatching @@ -33233,11 +38750,17 @@ Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 semapv Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref MedDRA:10038933 semapv:UnspecifiedMatching Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref UMLS:C0035344 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref icd11:9B71.3 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.0 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.0 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.1 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.1 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.2 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.2 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.3 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.3 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.4 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.4 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.5 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.5 semapv:UnspecifiedMatching Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.8 semapv:UnspecifiedMatching @@ -33268,6 +38791,8 @@ Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.7 semapv:UnspecifiedMatching Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.7 semapv:UnspecifiedMatching Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.8 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.8 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.9 semapv:UnspecifiedMatching Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.9 semapv:UnspecifiedMatching Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref UMLS:C5681362 semapv:UnspecifiedMatching Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref ICD10:T09.3 semapv:UnspecifiedMatching @@ -33275,13 +38800,19 @@ Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref ICD10:T09.3 semapv:Unspecif Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref MESH:D013119 semapv:UnspecifiedMatching Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref MedDRA:10041552 semapv:UnspecifiedMatching Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref UMLS:C0037929 semapv:UnspecifiedMatching +Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref icd11:ND51.2 semapv:UnspecifiedMatching +Orphanet:90059 Sudden sensorineural hearing loss oboInOwl:hasDbXref ICD10:H83.3 semapv:UnspecifiedMatching Orphanet:90059 Sudden sensorineural hearing loss oboInOwl:hasDbXref ICD10:H83.3 semapv:UnspecifiedMatching Orphanet:90059 Sudden sensorineural hearing loss oboInOwl:hasDbXref UMLS:C5681358 semapv:UnspecifiedMatching Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref ICD10:R04.8 semapv:UnspecifiedMatching Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref ICD10:R04.8 semapv:UnspecifiedMatching Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref UMLS:C4476767 semapv:UnspecifiedMatching +Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref icd11:MD23 semapv:UnspecifiedMatching +Orphanet:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching Orphanet:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching Orphanet:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref UMLS:C5396634 semapv:UnspecifiedMatching +Orphanet:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching +Orphanet:90062 Acute liver failure oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching Orphanet:90062 Acute liver failure oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching Orphanet:90062 Acute liver failure oboInOwl:hasDbXref MESH:D017114 semapv:UnspecifiedMatching Orphanet:90062 Acute liver failure oboInOwl:hasDbXref MedDRA:10000804 semapv:UnspecifiedMatching @@ -33298,64 +38829,96 @@ Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:has Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref UMLS:C0920182 semapv:UnspecifiedMatching Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref icd11:CA40.05 semapv:UnspecifiedMatching Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref ICD10:T40.5 semapv:UnspecifiedMatching +Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref ICD10:T40.5 semapv:UnspecifiedMatching Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref UMLS:C0009176 semapv:UnspecifiedMatching +Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref icd11:6C45.3 semapv:UnspecifiedMatching +Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref UMLS:C4707283 semapv:UnspecifiedMatching +Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref icd11:NE61 semapv:UnspecifiedMatching Orphanet:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref ICD10:B18.0 semapv:UnspecifiedMatching Orphanet:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref ICD10:B18.0 semapv:UnspecifiedMatching Orphanet:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref UMLS:C5681345 semapv:UnspecifiedMatching Orphanet:90076 Partial deep dermal and full thickness burns oboInOwl:hasDbXref ICD10:T30.3 semapv:UnspecifiedMatching +Orphanet:90076 Partial deep dermal and full thickness burns oboInOwl:hasDbXref ICD10:T30.3 semapv:UnspecifiedMatching Orphanet:90077 Other acquired skin disease oboInOwl:hasDbXref UMLS:C5681396 semapv:UnspecifiedMatching Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref ICD10:A49.1 semapv:UnspecifiedMatching +Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref ICD10:A49.1 semapv:UnspecifiedMatching Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref MedDRA:10053621 semapv:UnspecifiedMatching Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref UMLS:C5680177 semapv:UnspecifiedMatching Orphanet:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasDbXref ICD10:H59.8 semapv:UnspecifiedMatching +Orphanet:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasDbXref ICD10:H59.8 semapv:UnspecifiedMatching Orphanet:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasDbXref UMLS:C5681395 semapv:UnspecifiedMatching Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref ICD10:B22.2 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref ICD10:B22.2 semapv:UnspecifiedMatching Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref MESH:D019247 semapv:UnspecifiedMatching Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref UMLS:C0343755 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref icd11:1C62.3 semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref MESH:C536693 semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref UMLS:C0343101 semapv:UnspecifiedMatching +Orphanet:901 Wells syndrome oboInOwl:hasDbXref icd11:EB30 semapv:UnspecifiedMatching +Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:214370 semapv:UnspecifiedMatching Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4706301 semapv:UnspecifiedMatching +Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C5680178 semapv:UnspecifiedMatching Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref MESH:C535717 semapv:UnspecifiedMatching Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref UMLS:C1858338 semapv:UnspecifiedMatching +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref icd11:8C20.Y semapv:UnspecifiedMatching +Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref UMLS:C4707897 semapv:UnspecifiedMatching Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref UMLS:C4749729 semapv:UnspecifiedMatching Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref MESH:C562851 semapv:UnspecifiedMatching Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:601152 semapv:UnspecifiedMatching Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:616505 semapv:UnspecifiedMatching Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref UMLS:C0393807 semapv:UnspecifiedMatching Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref MESH:C535705 semapv:UnspecifiedMatching Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref UMLS:C5399785 semapv:UnspecifiedMatching +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref icd11:LD27.6Z semapv:UnspecifiedMatching +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref MESH:C535706 semapv:UnspecifiedMatching Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref UMLS:C1837756 semapv:UnspecifiedMatching +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref icd11:LD27.6Z semapv:UnspecifiedMatching +Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref UMLS:C0406605 semapv:UnspecifiedMatching +Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref icd11:EF01.1 semapv:UnspecifiedMatching +Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref UMLS:C1274983 semapv:UnspecifiedMatching +Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref icd11:EF01.1 semapv:UnspecifiedMatching +Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref UMLS:C0473566 semapv:UnspecifiedMatching +Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref icd11:EF01.1 semapv:UnspecifiedMatching +Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref UMLS:C5190785 semapv:UnspecifiedMatching +Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref icd11:EF01.1 semapv:UnspecifiedMatching +Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref UMLS:C1260961 semapv:UnspecifiedMatching +Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref icd11:EF01.1 semapv:UnspecifiedMatching +Orphanet:90185 Non-hereditary late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90185 Non-hereditary late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching @@ -33368,11 +38931,14 @@ Orphanet:902 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedM Orphanet:902 Werner syndrome oboInOwl:hasDbXref MedDRA:10049429 semapv:UnspecifiedMatching Orphanet:902 Werner syndrome oboInOwl:hasDbXref OMIM:277700 semapv:UnspecifiedMatching Orphanet:902 Werner syndrome oboInOwl:hasDbXref UMLS:C0043119 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref MESH:C535924 semapv:UnspecifiedMatching Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref MedDRA:10025141 semapv:UnspecifiedMatching Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref UMLS:C4551515 semapv:UnspecifiedMatching +Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref icd11:EB51.Y semapv:UnspecifiedMatching +Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref ICD10:L93.0 semapv:UnspecifiedMatching Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref ICD10:L93.0 semapv:UnspecifiedMatching Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MESH:D008179 semapv:UnspecifiedMatching Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MedDRA:10013072 semapv:UnspecifiedMatching @@ -33381,17 +38947,22 @@ Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref icd11:EB51.0 semap Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref UMLS:C1274838 semapv:UnspecifiedMatching +Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref icd11:EB51.Y semapv:UnspecifiedMatching Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref UMLS:C0406636 semapv:UnspecifiedMatching +Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref icd11:EB51.Y semapv:UnspecifiedMatching Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref MESH:D015435 semapv:UnspecifiedMatching Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref UMLS:C0030327 semapv:UnspecifiedMatching +Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref icd11:EB51.Y semapv:UnspecifiedMatching +Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref ICD10:L94.0 semapv:UnspecifiedMatching Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref ICD10:L94.0 semapv:UnspecifiedMatching Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref MedDRA:10039712 semapv:UnspecifiedMatching Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref UMLS:C0036420 semapv:UnspecifiedMatching +Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref icd11:EB61.0 semapv:UnspecifiedMatching Orphanet:90290 CREST syndrome oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching Orphanet:90290 CREST syndrome oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching Orphanet:90290 CREST syndrome oboInOwl:hasDbXref MESH:D017675 semapv:UnspecifiedMatching @@ -33405,6 +38976,8 @@ Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:Unspecif Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.2 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.2 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.9 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.9 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref MESH:D012595 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref MedDRA:10042953 semapv:UnspecifiedMatching @@ -33412,6 +38985,7 @@ Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref OMIM:181750 semapv:Unspecif Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref UMLS:C0036421 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref icd11:4A42 semapv:UnspecifiedMatching Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref MESH:D014842 semapv:UnspecifiedMatching Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref MedDRA:10047715 semapv:UnspecifiedMatching Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching @@ -33425,10 +38999,12 @@ Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlar Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref OMIM:200170 semapv:UnspecifiedMatching Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref UMLS:C4305258 semapv:UnspecifiedMatching Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref UMLS:C5574870 semapv:UnspecifiedMatching Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref icd11:LD26.60 semapv:UnspecifiedMatching Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref MedDRA:10051452 semapv:UnspecifiedMatching Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref icd11:LD26.60 semapv:UnspecifiedMatching @@ -33437,17 +39013,20 @@ Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:Un Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref UMLS:C0751039 semapv:UnspecifiedMatching +Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref UMLS:C0751038 semapv:UnspecifiedMatching +Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216411 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref UMLS:C0751037 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching @@ -33455,6 +39034,7 @@ Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMa Orphanet:90340 Blau syndrome oboInOwl:hasDbXref MedDRA:10071755 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref UMLS:C5201146 semapv:UnspecifiedMatching +Orphanet:90340 Blau syndrome oboInOwl:hasDbXref icd11:4A60.Y semapv:UnspecifiedMatching Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching @@ -33464,33 +39044,41 @@ Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 sema Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref MESH:C536766 semapv:UnspecifiedMatching Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref OMIM:278750 semapv:UnspecifiedMatching Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref UMLS:C1848410 semapv:UnspecifiedMatching +Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref MESH:C562627 semapv:UnspecifiedMatching Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:123700 semapv:UnspecifiedMatching Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:614434 semapv:UnspecifiedMatching Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:616603 semapv:UnspecifiedMatching Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref UMLS:C0268350 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref MESH:C562628 semapv:UnspecifiedMatching Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:219100 semapv:UnspecifiedMatching Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:614437 semapv:UnspecifiedMatching Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref UMLS:C0268351 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching Orphanet:90350 Autosomal recessive cutis laxa type 2 oboInOwl:hasDbXref UMLS:C0432337 semapv:UnspecifiedMatching Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:614170 semapv:UnspecifiedMatching Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref UMLS:C0268344 semapv:UnspecifiedMatching +Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref MESH:C536567 semapv:UnspecifiedMatching Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref OMIM:152800 semapv:UnspecifiedMatching Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C2931241 semapv:UnspecifiedMatching +Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref icd11:LB15.Y semapv:UnspecifiedMatching Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C4273969 semapv:UnspecifiedMatching Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref icd11:BD92.0 semapv:UnspecifiedMatching Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref MESH:C564143 semapv:UnspecifiedMatching Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:146520 semapv:UnspecifiedMatching Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:613981 semapv:UnspecifiedMatching @@ -33501,6 +39089,7 @@ Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref ICD Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref MESH:C000715747 semapv:UnspecifiedMatching Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref MedDRA:10043192 semapv:UnspecifiedMatching Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref UMLS:C0263402 semapv:UnspecifiedMatching +Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref icd11:2A21.1Y semapv:UnspecifiedMatching Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref MESH:C536378 semapv:UnspecifiedMatching @@ -33520,9 +39109,11 @@ Orphanet:90395 Papular mucinosis of infancy oboInOwl:hasDbXref UMLS:C4273966 sem Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref UMLS:C0406660 semapv:UnspecifiedMatching +Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref icd11:EB90.1Y semapv:UnspecifiedMatching Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref UMLS:C5681464 semapv:UnspecifiedMatching +Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref icd11:EB90.1Y semapv:UnspecifiedMatching Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref UMLS:C5681465 semapv:UnspecifiedMatching @@ -33532,6 +39123,7 @@ Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or syst Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref UMLS:C5681466 semapv:UnspecifiedMatching Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching Orphanet:904 Williams syndrome oboInOwl:hasDbXref ICD10:Q93.8 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref ICD10:Q93.8 semapv:UnspecifiedMatching Orphanet:904 Williams syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching Orphanet:904 Williams syndrome oboInOwl:hasDbXref MedDRA:10049644 semapv:UnspecifiedMatching Orphanet:904 Williams syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching @@ -33547,6 +39139,7 @@ Orphanet:905 Wilson disease oboInOwl:hasDbXref MESH:D006527 semapv:UnspecifiedMa Orphanet:905 Wilson disease oboInOwl:hasDbXref MedDRA:10019819 semapv:UnspecifiedMatching Orphanet:905 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching Orphanet:905 Wilson disease oboInOwl:hasDbXref UMLS:C0019202 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref icd11:5C64.00 semapv:UnspecifiedMatching Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10:D82.0 semapv:UnspecifiedMatching Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10:D82.0 semapv:UnspecifiedMatching Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching @@ -33557,12 +39150,14 @@ Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:614493 semapv:Unsp Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS:C0043194 semapv:UnspecifiedMatching Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300030 semapv:UnspecifiedMatching Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300066 semapv:UnspecifiedMatching Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300914 semapv:UnspecifiedMatching Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:304500 semapv:UnspecifiedMatching Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600101 semapv:UnspecifiedMatching Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600652 semapv:UnspecifiedMatching Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600965 semapv:UnspecifiedMatching @@ -33632,6 +39227,7 @@ Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:620227 semapv:UnspecifiedMatching Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:220290 semapv:UnspecifiedMatching Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600060 semapv:UnspecifiedMatching Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600316 semapv:UnspecifiedMatching @@ -33728,21 +39324,27 @@ Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness typ Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:620238 semapv:UnspecifiedMatching Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:221745 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:500008 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:580000 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching Orphanet:90642 Syndromic genetic deafness oboInOwl:hasDbXref icd11:LD2H semapv:UnspecifiedMatching Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:H90.6 semapv:UnspecifiedMatching +Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:H90.6 semapv:UnspecifiedMatching Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref MESH:C564435 semapv:UnspecifiedMatching Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref OMIM:304350 semapv:UnspecifiedMatching Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1844680 semapv:UnspecifiedMatching +Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MedDRA:10057936 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref OMIM:608518 semapv:UnspecifiedMatching @@ -33760,17 +39362,20 @@ Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref OMIM:304120 s Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C1844696 semapv:UnspecifiedMatching Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref MESH:C537492 semapv:UnspecifiedMatching Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref UMLS:C2020284 semapv:UnspecifiedMatching Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref MESH:C537493 semapv:UnspecifiedMatching Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref UMLS:C1858084 semapv:UnspecifiedMatching Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MESH:C537986 semapv:UnspecifiedMatching Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref OMIM:118300 semapv:UnspecifiedMatching Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref UMLS:C2931686 semapv:UnspecifiedMatching @@ -33780,17 +39385,21 @@ Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref I Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref MESH:C576976 semapv:UnspecifiedMatching Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref OMIM:275200 semapv:UnspecifiedMatching Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref UMLS:C3493776 semapv:UnspecifiedMatching +Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref MESH:C000610012 semapv:UnspecifiedMatching Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref OMIM:275100 semapv:UnspecifiedMatching Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C4082174 semapv:UnspecifiedMatching +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:90692 Rare endocrine growth disease oboInOwl:hasDbXref UMLS:C5681460 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref MedDRA:10033662 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:312000 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref UMLS:C5680191 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching Orphanet:90771 Difference of sex development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching @@ -33841,16 +39450,19 @@ Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:3 Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0268301 semapv:UnspecifiedMatching Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref icd11:LD2A.4 semapv:UnspecifiedMatching Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:UnspecifiedMatching Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref MedDRA:10017324 semapv:UnspecifiedMatching Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref UMLS:C0016667 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref icd11:LD55 semapv:UnspecifiedMatching Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS:C0238052 semapv:UnspecifiedMatching +Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref icd11:5C52.11 semapv:UnspecifiedMatching Orphanet:90970 Primary lipodystrophy oboInOwl:hasDbXref UMLS:C5681471 semapv:UnspecifiedMatching Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching @@ -33875,12 +39487,17 @@ Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref icd11:LD27.1 semapv:Unspec Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680194 semapv:UnspecifiedMatching Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref MESH:C536722 semapv:UnspecifiedMatching Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref OMIM:269840 semapv:UnspecifiedMatching Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref UMLS:C2931299 semapv:UnspecifiedMatching +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref ICD10:B34.0 semapv:UnspecifiedMatching Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref ICD10:B34.0 semapv:UnspecifiedMatching Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref UMLS:C5681468 semapv:UnspecifiedMatching Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:610773 semapv:UnspecifiedMatching Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref UMLS:C5681469 semapv:UnspecifiedMatching @@ -33892,6 +39509,7 @@ Orphanet:91131 DK1-CDG oboInOwl:hasDbXref OMIM:610768 semapv:UnspecifiedMatching Orphanet:91131 DK1-CDG oboInOwl:hasDbXref UMLS:C1835849 semapv:UnspecifiedMatching Orphanet:91131 DK1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:602400 semapv:UnspecifiedMatching Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C4510566 semapv:UnspecifiedMatching Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching @@ -33904,16 +39522,21 @@ Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome ob Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome oboInOwl:hasDbXref UMLS:C4510369 semapv:UnspecifiedMatching Orphanet:91137 Immunotactoid or fibrillary glomerulopathy oboInOwl:hasDbXref UMLS:C5680195 semapv:UnspecifiedMatching Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching +Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref MedDRA:10027756 semapv:UnspecifiedMatching Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref OMIM:123550 semapv:UnspecifiedMatching Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C0340992 semapv:UnspecifiedMatching +Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref icd11:4A44.90 semapv:UnspecifiedMatching +Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref UMLS:C4510006 semapv:UnspecifiedMatching Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref icd11:4B22 semapv:UnspecifiedMatching Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C5680196 semapv:UnspecifiedMatching +Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.Y semapv:UnspecifiedMatching Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen oboInOwl:hasDbXref UMLS:C5680197 semapv:UnspecifiedMatching +Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen oboInOwl:hasDbXref icd11:5A71.1 semapv:UnspecifiedMatching Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref MESH:D015211 semapv:UnspecifiedMatching @@ -33932,6 +39555,7 @@ Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614886 semapv:Unspecifie Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref UMLS:C0043459 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref icd11:5C57.0 semapv:UnspecifiedMatching Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10:E16.4 semapv:UnspecifiedMatching Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10:E16.4 semapv:UnspecifiedMatching Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015043 semapv:UnspecifiedMatching @@ -33941,28 +39565,40 @@ Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref icd11:5A43.1 semapv:U Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C0346303 semapv:UnspecifiedMatching +Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref icd11:2F37.Y semapv:UnspecifiedMatching Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref UMLS:C0346304 semapv:UnspecifiedMatching Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0338078 semapv:UnspecifiedMatching +Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref icd11:2F37.0 semapv:UnspecifiedMatching +Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref UMLS:C5190782 semapv:UnspecifiedMatching Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref UMLS:C5190781 semapv:UnspecifiedMatching +Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1333813 semapv:UnspecifiedMatching +Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching +Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref UMLS:C4275064 semapv:UnspecifiedMatching +Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref MedDRA:10036297 semapv:UnspecifiedMatching Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref UMLS:C0242342 semapv:UnspecifiedMatching +Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref UMLS:C0266133 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref icd11:LB12.4 semapv:UnspecifiedMatching Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref UMLS:C3872848 semapv:UnspecifiedMatching Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref icd11:CB04.6 semapv:UnspecifiedMatching Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching @@ -33978,10 +39614,13 @@ Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619361 semapv:Unspe Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619363 semapv:UnspecifiedMatching Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619366 semapv:UnspecifiedMatching Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref UMLS:C0019243 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref MESH:C538173 semapv:UnspecifiedMatching Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref MedDRA:10081035 semapv:UnspecifiedMatching Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref OMIM:300909 semapv:UnspecifiedMatching Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref UMLS:C2931758 semapv:UnspecifiedMatching +Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref icd11:4A00.15 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:132900 semapv:UnspecifiedMatching Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching @@ -34000,8 +39639,11 @@ Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl: Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref UMLS:C4707243 semapv:UnspecifiedMatching Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref icd11:LD28.0Y semapv:UnspecifiedMatching Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref UMLS:C4305274 semapv:UnspecifiedMatching +Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref MESH:C536373 semapv:UnspecifiedMatching Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref UMLS:C1302999 semapv:UnspecifiedMatching @@ -34020,11 +39662,13 @@ Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref MESH:C535908 semapv:Unspe Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref MedDRA:10064583 semapv:UnspecifiedMatching Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref OMIM:154600 semapv:UnspecifiedMatching Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref UMLS:C0266521 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref icd11:9A03.00 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref MESH:C564178 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref UMLS:C1840475 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref icd11:8D8A.1 semapv:UnspecifiedMatching Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching @@ -34035,32 +39679,41 @@ Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedM Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref MedDRA:10035040 semapv:UnspecifiedMatching Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref OMIM:132600 semapv:UnspecifiedMatching Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref UMLS:C0206711 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref icd11:2F22 semapv:UnspecifiedMatching +Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref ICD10:Q10.6 semapv:UnspecifiedMatching Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref ICD10:Q10.6 semapv:UnspecifiedMatching Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:103420 semapv:UnspecifiedMatching Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:601549 semapv:UnspecifiedMatching Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref UMLS:C4273963 semapv:UnspecifiedMatching Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref ICD10:D31.1 semapv:UnspecifiedMatching +Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref ICD10:D31.1 semapv:UnspecifiedMatching Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 semapv:UnspecifiedMatching Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 semapv:UnspecifiedMatching Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref UMLS:C1867155 semapv:UnspecifiedMatching +Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref icd11:2F36.Y semapv:UnspecifiedMatching Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref MedDRA:10059198 semapv:UnspecifiedMatching Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:137600 semapv:UnspecifiedMatching Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref icd11:LA11.2 semapv:UnspecifiedMatching Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref OMIM:309300 semapv:UnspecifiedMatching Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref UMLS:C4518341 semapv:UnspecifiedMatching +Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref icd11:LA11.1 semapv:UnspecifiedMatching +Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref ICD10:Q13.3 semapv:UnspecifiedMatching Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref ICD10:Q13.3 semapv:UnspecifiedMatching Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref OMIM:181700 semapv:UnspecifiedMatching Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref UMLS:C5681467 semapv:UnspecifiedMatching +Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref icd11:LA11.1 semapv:UnspecifiedMatching Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref UMLS:C1303012 semapv:UnspecifiedMatching Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching @@ -34105,25 +39758,31 @@ Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616279 Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref UMLS:C0009691 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref OMIM:216800 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref UMLS:C4302525 semapv:UnspecifiedMatching Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref ICD10:Q14.0 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref ICD10:Q14.0 semapv:UnspecifiedMatching Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref MESH:D054514 semapv:UnspecifiedMatching Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:221900 semapv:UnspecifiedMatching Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:611308 semapv:UnspecifiedMatching Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C0266568 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref icd11:LA13.Y semapv:UnspecifiedMatching Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 semapv:UnspecifiedMatching Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 semapv:UnspecifiedMatching Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C1860405 semapv:UnspecifiedMatching +Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref MESH:C565007 semapv:UnspecifiedMatching Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref OMIM:136480 semapv:UnspecifiedMatching Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref UMLS:C1850996 semapv:UnspecifiedMatching +Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref icd11:9C81.1 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref MESH:C535331 semapv:UnspecifiedMatching Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref MedDRA:10067148 semapv:UnspecifiedMatching @@ -34137,11 +39796,16 @@ Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbX Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MedDRA:10069034 semapv:UnspecifiedMatching Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref OMIM:607665 semapv:UnspecifiedMatching Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref UMLS:C1843273 semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref icd11:9A96.1 semapv:UnspecifiedMatching +Orphanet:91546 Lyme disease oboInOwl:hasDbXref ICD10:A69.2 semapv:UnspecifiedMatching Orphanet:91546 Lyme disease oboInOwl:hasDbXref ICD10:A69.2 semapv:UnspecifiedMatching Orphanet:91546 Lyme disease oboInOwl:hasDbXref MESH:D008193 semapv:UnspecifiedMatching Orphanet:91546 Lyme disease oboInOwl:hasDbXref MedDRA:10025169 semapv:UnspecifiedMatching Orphanet:91546 Lyme disease oboInOwl:hasDbXref UMLS:C0024198 semapv:UnspecifiedMatching +Orphanet:91546 Lyme disease oboInOwl:hasDbXref icd11:1C1G semapv:UnspecifiedMatching Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.0 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.0 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.1 semapv:UnspecifiedMatching Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.1 semapv:UnspecifiedMatching Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.9 semapv:UnspecifiedMatching Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.9 semapv:UnspecifiedMatching @@ -34170,6 +39834,7 @@ Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref OMIM:200110 sema Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS:C1860224 semapv:UnspecifiedMatching Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref OMIM:613217 semapv:UnspecifiedMatching Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref UMLS:C4275062 semapv:UnspecifiedMatching Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching @@ -34179,14 +39844,18 @@ Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MESH:C535559 semapv:Un Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref OMIM:302905 semapv:UnspecifiedMatching Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS:C1844862 semapv:UnspecifiedMatching Orphanet:922 Familial nasal acilia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:922 Familial nasal acilia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:922 Familial nasal acilia oboInOwl:hasDbXref UMLS:C4706505 semapv:UnspecifiedMatching Orphanet:924 NON RARE IN EUROPE: Acanthosis nigricans oboInOwl:hasDbXref ICD10:L83 semapv:UnspecifiedMatching +Orphanet:924 NON RARE IN EUROPE: Acanthosis nigricans oboInOwl:hasDbXref ICD10:L83 semapv:UnspecifiedMatching Orphanet:926 Acatalasemia oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching Orphanet:926 Acatalasemia oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching Orphanet:926 Acatalasemia oboInOwl:hasDbXref MESH:D020642 semapv:UnspecifiedMatching Orphanet:926 Acatalasemia oboInOwl:hasDbXref MedDRA:10086141 semapv:UnspecifiedMatching Orphanet:926 Acatalasemia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching Orphanet:926 Acatalasemia oboInOwl:hasDbXref UMLS:C0268419 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref MESH:C536109 semapv:UnspecifiedMatching Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref MedDRA:10071092 semapv:UnspecifiedMatching @@ -34199,6 +39868,7 @@ Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref MESH:C536010 sem Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref OMIM:200450 semapv:UnspecifiedMatching Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1860212 semapv:UnspecifiedMatching Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MESH:D054880 semapv:UnspecifiedMatching Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MedDRA:10068220 semapv:UnspecifiedMatching Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref OMIM:208400 semapv:UnspecifiedMatching @@ -34212,6 +39882,7 @@ Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref OMIM:200400 semapv:Unspecif Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref UMLS:C0859976 semapv:UnspecifiedMatching Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref icd11:DA21.0 semapv:UnspecifiedMatching Orphanet:931 Acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:931 Acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:931 Acheiropodia oboInOwl:hasDbXref MESH:C536014 semapv:UnspecifiedMatching Orphanet:931 Acheiropodia oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching Orphanet:931 Acheiropodia oboInOwl:hasDbXref UMLS:C0265559 semapv:UnspecifiedMatching @@ -34230,21 +39901,29 @@ Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.5 semapv:Unspecifie Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.5 semapv:UnspecifiedMatching Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref MedDRA:10049102 semapv:UnspecifiedMatching Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref UMLS:C0266295 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref icd11:LB30.0Y semapv:UnspecifiedMatching Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref MedDRA:10038433 semapv:UnspecifiedMatching Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref UMLS:C3536714 semapv:UnspecifiedMatching +Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref icd11:LB30.1 semapv:UnspecifiedMatching +Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref UMLS:C5545379 semapv:UnspecifiedMatching Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref icd11:LB31.Y semapv:UnspecifiedMatching Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref ICD10:Q64.2 semapv:UnspecifiedMatching +Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref ICD10:Q64.2 semapv:UnspecifiedMatching Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref MedDRA:10036369 semapv:UnspecifiedMatching Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref OMIM:618612 semapv:UnspecifiedMatching Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref UMLS:C0238506 semapv:UnspecifiedMatching +Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref icd11:LB31.2 semapv:UnspecifiedMatching +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C535520 semapv:UnspecifiedMatching Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C0431693 semapv:UnspecifiedMatching +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref icd11:5A13.6 semapv:UnspecifiedMatching +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref OMIM:614455 semapv:UnspecifiedMatching Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref UMLS:C4302667 semapv:UnspecifiedMatching @@ -34252,11 +39931,14 @@ Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref UMLS:C0343196 semapv:UnspecifiedMatching +Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref icd11:MF84 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:277440 semapv:UnspecifiedMatching Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:600785 semapv:UnspecifiedMatching Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:619073 semapv:UnspecifiedMatching Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref UMLS:C3536983 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref icd11:5C63.21 semapv:UnspecifiedMatching Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref UMLS:C4273962 semapv:UnspecifiedMatching @@ -34264,16 +39946,21 @@ Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref icd11:GB90.4 Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref UMLS:C0431697 semapv:UnspecifiedMatching +Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref icd11:LB30.1 semapv:UnspecifiedMatching Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref UMLS:C0431698 semapv:UnspecifiedMatching +Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref icd11:LB30.1 semapv:UnspecifiedMatching +Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref UMLS:C5681456 semapv:UnspecifiedMatching Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref icd11:LB31.Y semapv:UnspecifiedMatching Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref UMLS:C5681455 semapv:UnspecifiedMatching Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref icd11:LB31.Y semapv:UnspecifiedMatching Orphanet:932 Achondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching Orphanet:932 Achondrogenesis oboInOwl:hasDbXref MESH:C579878 semapv:UnspecifiedMatching Orphanet:932 Achondrogenesis oboInOwl:hasDbXref MedDRA:10066122 semapv:UnspecifiedMatching Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching @@ -34307,6 +39994,7 @@ Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref MESH:C567382 semapv:UnspecifiedMatching Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2677099 semapv:UnspecifiedMatching +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref MESH:C564611 semapv:UnspecifiedMatching @@ -34314,16 +40002,23 @@ Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl: Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C1846671 semapv:UnspecifiedMatching Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref MESH:C537599 semapv:UnspecifiedMatching Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref OMIM:269860 semapv:UnspecifiedMatching Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref UMLS:C0432198 semapv:UnspecifiedMatching +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref icd11:LD24.B0 semapv:UnspecifiedMatching +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref OMIM:263520 semapv:UnspecifiedMatching Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref UMLS:C0024507 semapv:UnspecifiedMatching +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref icd11:LD24.B0 semapv:UnspecifiedMatching +Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref UMLS:C0036069 semapv:UnspecifiedMatching +Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref icd11:LD24.B0 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref MESH:C537602 semapv:UnspecifiedMatching Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching @@ -34331,30 +40026,37 @@ Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDb Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:615503 semapv:UnspecifiedMatching Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref UMLS:C0432197 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref icd11:LD24.B0 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref MESH:C536508 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:156830 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref UMLS:C1300257 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref icd11:LD24.02 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref MESH:C536506 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref UMLS:C1848865 semapv:UnspecifiedMatching Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching +Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MedDRA:10036120 semapv:UnspecifiedMatching Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref UMLS:C0016065 semapv:UnspecifiedMatching +Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref icd11:FB80.0 semapv:UnspecifiedMatching Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref MESH:D005358 semapv:UnspecifiedMatching Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref UMLS:C0016064 semapv:UnspecifiedMatching +Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref icd11:FB80.0 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref OMIM:604864 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref UMLS:C4275063 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref MESH:C535789 semapv:UnspecifiedMatching Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref UMLS:C1837657 semapv:UnspecifiedMatching Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching @@ -34386,48 +40088,61 @@ Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref OMIM:607323 semapv:Unspecifie Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref UMLS:C1623209 semapv:UnspecifiedMatching Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref MESH:C536017 semapv:UnspecifiedMatching Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref UMLS:C0220685 semapv:UnspecifiedMatching Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref MESH:C563007 semapv:UnspecifiedMatching Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref UMLS:C0542428 semapv:UnspecifiedMatching Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref icd11:LD24.51 semapv:UnspecifiedMatching Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref MESH:C536016 semapv:UnspecifiedMatching Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref OMIM:600972 semapv:UnspecifiedMatching Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref UMLS:C0265274 semapv:UnspecifiedMatching Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref MESH:C536015 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref UMLS:C0265273 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref MESH:C563218 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref UMLS:C5399913 semapv:UnspecifiedMatching +Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching +Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref MESH:C562963 semapv:UnspecifiedMatching Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref OMIM:113500 semapv:UnspecifiedMatching Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref UMLS:C0432227 semapv:UnspecifiedMatching +Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching +Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref MESH:C535504 semapv:UnspecifiedMatching Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref UMLS:C1847593 semapv:UnspecifiedMatching Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref MESH:C535501 semapv:UnspecifiedMatching Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref OMIM:132400 semapv:UnspecifiedMatching Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref UMLS:C1838280 semapv:UnspecifiedMatching Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref MESH:C535505 semapv:UnspecifiedMatching Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref OMIM:607078 semapv:UnspecifiedMatching Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref UMLS:C1846843 semapv:UnspecifiedMatching @@ -34455,6 +40170,7 @@ Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXre Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref MESH:C535798 semapv:UnspecifiedMatching Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref UMLS:C1855229 semapv:UnspecifiedMatching +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref UMLS:C0265583 semapv:UnspecifiedMatching @@ -34462,19 +40178,25 @@ Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref icd11:LB99.3 semapv:Unspecifie Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref UMLS:C0265581 semapv:UnspecifiedMatching +Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref icd11:LB99.2 semapv:UnspecifiedMatching +Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref MESH:C535563 semapv:UnspecifiedMatching Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref OMIM:275220 semapv:UnspecifiedMatching Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref UMLS:C0265633 semapv:UnspecifiedMatching Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref icd11:LB9A.1 semapv:UnspecifiedMatching Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching +Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref UMLS:C0265634 semapv:UnspecifiedMatching +Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref icd11:LB9A.2 semapv:UnspecifiedMatching +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref MESH:C537021 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C1855648 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C5681457 semapv:UnspecifiedMatching Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching @@ -34490,10 +40212,12 @@ Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref MESH:C537746 Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref MESH:C535550 semapv:UnspecifiedMatching Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref OMIM:260660 semapv:UnspecifiedMatching Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref UMLS:C1850040 semapv:UnspecifiedMatching Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:263450 semapv:UnspecifiedMatching Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:602085 semapv:UnspecifiedMatching @@ -34505,26 +40229,33 @@ Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:618498 semap Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref UMLS:C3887487 semapv:UnspecifiedMatching Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref icd11:LB78.2 semapv:UnspecifiedMatching Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref UMLS:C1868120 semapv:UnspecifiedMatching Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref icd11:LB78.2 semapv:UnspecifiedMatching Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching +Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref UMLS:C1868114 semapv:UnspecifiedMatching Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref MESH:C566784 semapv:UnspecifiedMatching Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref OMIM:174600 semapv:UnspecifiedMatching Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref UMLS:C1868113 semapv:UnspecifiedMatching +Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref icd11:LB78.Y semapv:UnspecifiedMatching Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref MedDRA:10063143 semapv:UnspecifiedMatching Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref UMLS:C0265553 semapv:UnspecifiedMatching +Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref icd11:LB78.1 semapv:UnspecifiedMatching +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref MESH:C536332 semapv:UnspecifiedMatching Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref OMIM:174400 semapv:UnspecifiedMatching Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref UMLS:C1395852 semapv:UnspecifiedMatching +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref icd11:LB78.0 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching @@ -34580,27 +40311,33 @@ Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref UMLS:C1863732 semapv:UnspecifiedMatching Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MESH:C537145 semapv:UnspecifiedMatching Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MedDRA:10068704 semapv:UnspecifiedMatching Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref UMLS:C0342637 semapv:UnspecifiedMatching Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref MESH:C537092 semapv:UnspecifiedMatching Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref OMIM:112910 semapv:UnspecifiedMatching Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref UMLS:C1862130 semapv:UnspecifiedMatching Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref UMLS:C1300267 semapv:UnspecifiedMatching Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref UMLS:C1862103 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref MESH:C566194 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref OMIM:113300 semapv:UnspecifiedMatching @@ -34608,6 +40345,7 @@ Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref OMIM:613382 semapv:Unspec Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref UMLS:C4315392 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref MESH:C537088 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:112500 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:607004 semapv:UnspecifiedMatching @@ -34616,33 +40354,42 @@ Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:616849 semapv:Unspe Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref UMLS:C1862151 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref UMLS:C1862138 semapv:UnspecifiedMatching Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref MESH:C537097 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref UMLS:C1862139 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref OMIM:112440 semapv:UnspecifiedMatching Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref UMLS:C1862163 semapv:UnspecifiedMatching Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref MESH:C537089 semapv:UnspecifiedMatching Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref OMIM:112600 semapv:UnspecifiedMatching Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref UMLS:C1832702 semapv:UnspecifiedMatching Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref UMLS:C4303991 semapv:UnspecifiedMatching Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref UMLS:C4511481 semapv:UnspecifiedMatching Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref UMLS:C5681598 semapv:UnspecifiedMatching Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref UMLS:C5681599 semapv:UnspecifiedMatching Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching @@ -34653,6 +40400,7 @@ Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:Unspecifi Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref MESH:C566096 semapv:UnspecifiedMatching Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref UMLS:C1861380 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching @@ -34661,16 +40409,19 @@ Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref MESH:C538153 semapv:Unspecif Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref UMLS:C2699746 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref OMIM:186100 semapv:UnspecifiedMatching Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref UMLS:C1861366 semapv:UnspecifiedMatching +Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref MESH:C566092 semapv:UnspecifiedMatching Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref UMLS:C1861355 semapv:UnspecifiedMatching +Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching @@ -34678,6 +40429,8 @@ Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.2 semapv:Unspecifi Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref MESH:C538155 semapv:UnspecifiedMatching Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref OMIM:186300 semapv:UnspecifiedMatching Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref UMLS:C1861348 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching +Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref OMIM:610713 semapv:UnspecifiedMatching Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref UMLS:C4303990 semapv:UnspecifiedMatching @@ -34692,11 +40445,15 @@ Orphanet:93425 Filamin-related bone disorder oboInOwl:hasDbXref UMLS:C5680280 se Orphanet:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref OMIM:617405 semapv:UnspecifiedMatching Orphanet:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref UMLS:C0432195 semapv:UnspecifiedMatching Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia oboInOwl:hasDbXref UMLS:C5681609 semapv:UnspecifiedMatching +Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia oboInOwl:hasDbXref icd11:LD24.6 semapv:UnspecifiedMatching Orphanet:93430 Multiple metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5681610 semapv:UnspecifiedMatching +Orphanet:93430 Multiple metaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:93434 Spondylodysplastic dysplasia oboInOwl:hasDbXref icd11:LD24.5 semapv:UnspecifiedMatching +Orphanet:93436 Acromelic dysplasia oboInOwl:hasDbXref icd11:LD24.8 semapv:UnspecifiedMatching Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MESH:C535658 semapv:UnspecifiedMatching Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MedDRA:10083866 semapv:UnspecifiedMatching Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref UMLS:C5235036 semapv:UnspecifiedMatching +Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia oboInOwl:hasDbXref UMLS:C5681611 semapv:UnspecifiedMatching Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching @@ -34708,6 +40465,7 @@ Orphanet:93441 Primary bone dysplasia with multiple joint dislocations oboInOwl: Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref MESH:D002806 semapv:UnspecifiedMatching Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref MedDRA:10087150 semapv:UnspecifiedMatching Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0008445 semapv:UnspecifiedMatching +Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:93443 Neonatal osteosclerotic dysplasia oboInOwl:hasDbXref UMLS:C1300205 semapv:UnspecifiedMatching Orphanet:93444 Primary bone dysplasia with increased bone density oboInOwl:hasDbXref UMLS:C5680274 semapv:UnspecifiedMatching Orphanet:93446 Primary bone dysplasia with decreased bone density oboInOwl:hasDbXref UMLS:C5680273 semapv:UnspecifiedMatching @@ -34718,24 +40476,31 @@ Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect Orphanet:93453 Dysostosis with predominant craniofacial involvement oboInOwl:hasDbXref UMLS:C5681592 semapv:UnspecifiedMatching Orphanet:93453 Dysostosis with predominant craniofacial involvement oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching Orphanet:93454 Dysostosis with predominant vertebral and costal involvement oboInOwl:hasDbXref UMLS:C5681591 semapv:UnspecifiedMatching +Orphanet:93454 Dysostosis with predominant vertebral and costal involvement oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching Orphanet:93455 Patellar dysostosis oboInOwl:hasDbXref UMLS:C5681590 semapv:UnspecifiedMatching Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref UMLS:C5680277 semapv:UnspecifiedMatching +Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref icd11:LB99 semapv:UnspecifiedMatching Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref icd11:LB9A semapv:UnspecifiedMatching Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy oboInOwl:hasDbXref UMLS:C5681597 semapv:UnspecifiedMatching Orphanet:93459 Syndrome with synostosis or other joint formation defect oboInOwl:hasDbXref UMLS:C5681596 semapv:UnspecifiedMatching Orphanet:93460 Overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:93460 Overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:93460 Overgrowth syndrome oboInOwl:hasDbXref UMLS:C2986703 semapv:UnspecifiedMatching +Orphanet:93460 Overgrowth syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:93461 Chromosomal disease with overgrowth oboInOwl:hasDbXref UMLS:C5681595 semapv:UnspecifiedMatching Orphanet:93465 Lethal chondrodysplasia oboInOwl:hasDbXref UMLS:C5681594 semapv:UnspecifiedMatching Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref UMLS:C0086795 semapv:UnspecifiedMatching Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref MedDRA:10056916 semapv:UnspecifiedMatching Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref UMLS:C0086431 semapv:UnspecifiedMatching @@ -34756,13 +40521,19 @@ Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C1274834 semapv:UnspecifiedMatching Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref icd11:4A40.0Y semapv:UnspecifiedMatching Orphanet:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching +Orphanet:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching Orphanet:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref UMLS:C5680264 semapv:UnspecifiedMatching +Orphanet:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref icd11:4A44.90 semapv:UnspecifiedMatching +Orphanet:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching Orphanet:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching Orphanet:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref UMLS:C5680263 semapv:UnspecifiedMatching +Orphanet:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref icd11:4A44.90 semapv:UnspecifiedMatching Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref UMLS:C1333947 semapv:UnspecifiedMatching @@ -34776,27 +40547,38 @@ Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 sem Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref UMLS:C0238239 semapv:UnspecifiedMatching Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref icd11:2A83.52 semapv:UnspecifiedMatching Orphanet:93559 C3 deposition glomerulonephritis without proliferation oboInOwl:hasDbXref ICD10:NO3.5 semapv:UnspecifiedMatching +Orphanet:93559 C3 deposition glomerulonephritis without proliferation oboInOwl:hasDbXref ICD10:NO3.5 semapv:UnspecifiedMatching +Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref UMLS:C5680269 semapv:UnspecifiedMatching +Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching +Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref UMLS:C5680270 semapv:UnspecifiedMatching +Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching +Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref UMLS:C5680267 semapv:UnspecifiedMatching +Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref MedDRA:10076673 semapv:UnspecifiedMatching Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref UMLS:C3826988 semapv:UnspecifiedMatching +Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref icd11:4A41.10 semapv:UnspecifiedMatching +Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 semapv:UnspecifiedMatching Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 semapv:UnspecifiedMatching Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MESH:D011111 semapv:UnspecifiedMatching Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MedDRA:10036099 semapv:UnspecifiedMatching Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C0032533 semapv:UnspecifiedMatching Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref icd11:FA22 semapv:UnspecifiedMatching Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching +Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref UMLS:C0268743 semapv:UnspecifiedMatching +Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref icd11:GB40 semapv:UnspecifiedMatching Orphanet:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MESH:D057049 semapv:UnspecifiedMatching Orphanet:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MedDRA:10043645 semapv:UnspecifiedMatching Orphanet:93573 Thrombotic microangiopathy oboInOwl:hasDbXref UMLS:C2717961 semapv:UnspecifiedMatching @@ -34804,34 +40586,44 @@ Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref UMLS:C5680286 semapv:UnspecifiedMatching +Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref icd11:3A21.Y semapv:UnspecifiedMatching Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C1268935 semapv:UnspecifiedMatching +Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref icd11:3B64.14 semapv:UnspecifiedMatching Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:C536901 semapv:UnspecifiedMatching Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C2584778 semapv:UnspecifiedMatching +Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref icd11:3B64.14 semapv:UnspecifiedMatching Orphanet:93587 Genetic cystic renal disease oboInOwl:hasDbXref UMLS:C5680285 semapv:UnspecifiedMatching Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:604387 semapv:UnspecifiedMatching Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:613159 semapv:UnspecifiedMatching Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref UMLS:C5681620 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref icd11:GB83 semapv:UnspecifiedMatching +Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching +Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref icd11:GB83 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref MESH:C537699 semapv:UnspecifiedMatching Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref UMLS:C1855681 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref icd11:GB83 semapv:UnspecifiedMatching Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease oboInOwl:hasDbXref UMLS:C5681622 semapv:UnspecifiedMatching Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS:C0268164 semapv:UnspecifiedMatching +Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref icd11:5C51.20 semapv:UnspecifiedMatching Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref MESH:C536415 semapv:UnspecifiedMatching @@ -34858,14 +40650,17 @@ Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref UMLS:C1863688 semapv:Unspe Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref icd11:5C55.00 semapv:UnspecifiedMatching Orphanet:93603 Rare renal tubular disease oboInOwl:hasDbXref UMLS:C5681624 semapv:UnspecifiedMatching Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref MESH:C537653 semapv:UnspecifiedMatching Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref UMLS:C1846343 semapv:UnspecifiedMatching Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref MESH:C564491 semapv:UnspecifiedMatching Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS:C1845202 semapv:UnspecifiedMatching +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref icd11:5A60.20 semapv:UnspecifiedMatching Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref MESH:C567038 semapv:UnspecifiedMatching @@ -34899,9 +40694,11 @@ Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref UMLS:C1857389 semapv:Unspeci Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref icd11:5C60.2 semapv:UnspecifiedMatching Orphanet:93614 Hematological disorder with renal involvement oboInOwl:hasDbXref UMLS:C5681623 semapv:UnspecifiedMatching Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref MedDRA:10063435 semapv:UnspecifiedMatching Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref OMIM:613978 semapv:UnspecifiedMatching Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref UMLS:C3161174 semapv:UnspecifiedMatching +Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref icd11:3A50.02 semapv:UnspecifiedMatching Orphanet:93618 Rare cause of hypertension oboInOwl:hasDbXref UMLS:C5681618 semapv:UnspecifiedMatching Orphanet:93619 Rare renal tumor oboInOwl:hasDbXref UMLS:C5681619 semapv:UnspecifiedMatching Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching @@ -34926,8 +40723,10 @@ Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:Un Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MedDRA:10008521 semapv:UnspecifiedMatching Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref UMLS:C0263666 semapv:UnspecifiedMatching +Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref icd11:4A41.01 semapv:UnspecifiedMatching Orphanet:93685 Unicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:93685 Unicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:93685 Unicentric Castleman disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching Orphanet:93890 Rare developmental defect during embryogenesis oboInOwl:hasDbXref UMLS:C5680284 semapv:UnspecifiedMatching Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching @@ -34944,12 +40743,14 @@ Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:615670 semapv:Unspec Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref UMLS:C1335929 semapv:UnspecifiedMatching Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref icd11:LD2D.1Y semapv:UnspecifiedMatching Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0431362 semapv:UnspecifiedMatching Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:301043 semapv:UnspecifiedMatching Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching @@ -34957,6 +40758,7 @@ Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:Un Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0431363 semapv:UnspecifiedMatching Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching @@ -34966,6 +40768,7 @@ Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref ICD10:Q64.0 semapv:Unspeci Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref MESH:D004842 semapv:UnspecifiedMatching Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref MedDRA:10015088 semapv:UnspecifiedMatching Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref UMLS:C5681612 semapv:UnspecifiedMatching +Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref icd11:LB55 semapv:UnspecifiedMatching Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref MESH:C537748 semapv:UnspecifiedMatching @@ -34978,6 +40781,7 @@ Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:Unspecifi Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref MESH:D001746 semapv:UnspecifiedMatching Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref UMLS:C0005689 semapv:UnspecifiedMatching +Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref icd11:LB31.3 semapv:UnspecifiedMatching Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref MESH:C537923 semapv:UnspecifiedMatching @@ -34985,13 +40789,17 @@ Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref OMIM:305450 semapv:Unspecif Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref UMLS:C5399762 semapv:UnspecifiedMatching Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching @@ -35001,22 +40809,28 @@ Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXre Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref UMLS:C5681616 semapv:UnspecifiedMatching +Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref UMLS:C5681615 semapv:UnspecifiedMatching +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref UMLS:C5681614 semapv:UnspecifiedMatching +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref UMLS:C5681613 semapv:UnspecifiedMatching +Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref MESH:C564516 semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref UMLS:C1845543 semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching +Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref MESH:C536909 semapv:UnspecifiedMatching Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref OMIM:188455 semapv:UnspecifiedMatching Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref UMLS:C3495590 semapv:UnspecifiedMatching @@ -35027,14 +40841,18 @@ Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref MedDRA:10067954 semapv: Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref UMLS:C2242577 semapv:UnspecifiedMatching Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref MedDRA:10027138 semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref UMLS:C0025183 semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching Orphanet:93968 Meningocele oboInOwl:hasDbXref ICD10:Q05 semapv:UnspecifiedMatching +Orphanet:93968 Meningocele oboInOwl:hasDbXref ICD10:Q05 semapv:UnspecifiedMatching Orphanet:93968 Meningocele oboInOwl:hasDbXref MESH:D008588 semapv:UnspecifiedMatching Orphanet:93968 Meningocele oboInOwl:hasDbXref MedDRA:10027266 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching @@ -35053,20 +40871,28 @@ Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref UMLS:C0025312 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref icd11:LA02.1 semapv:UnspecifiedMatching Orphanet:93970 Holmes-Gang syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93970 Holmes-Gang syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93971 Chudley-Lowry-Hoar syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:93971 Chudley-Lowry-Hoar syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref MESH:C537457 semapv:UnspecifiedMatching Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref UMLS:C0796003 semapv:UnspecifiedMatching Orphanet:93973 Carpenter-Waziri syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93973 Carpenter-Waziri syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref UMLS:C0796159 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.0 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.0 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref MedDRA:10002654 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref OMIM:600674 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref UMLS:C0702139 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref icd11:LA22.1 semapv:UnspecifiedMatching Orphanet:94 Astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching Orphanet:94 Astrocytoma oboInOwl:hasDbXref MedDRA:10003571 semapv:UnspecifiedMatching Orphanet:94 Astrocytoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching @@ -35080,10 +40906,12 @@ Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref ICD10:H40.5 semapv:Unspec Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref MESH:D015355 semapv:UnspecifiedMatching Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref MedDRA:10062891 semapv:UnspecifiedMatching Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref UMLS:C0017609 semapv:UnspecifiedMatching +Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref icd11:9C61.32 semapv:UnspecifiedMatching Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref ICD10:L29.8 semapv:UnspecifiedMatching Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref ICD10:L29.8 semapv:UnspecifiedMatching Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref MedDRA:10060875 semapv:UnspecifiedMatching Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref UMLS:C1262019 semapv:UnspecifiedMatching +Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref icd11:EC90.10 semapv:UnspecifiedMatching Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -35096,6 +40924,7 @@ Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref ICD10:Q93.5 sema Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref MESH:C567010 semapv:UnspecifiedMatching Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref OMIM:611102 semapv:UnspecifiedMatching Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref UMLS:C1970187 semapv:UnspecifiedMatching +Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref MESH:C579849 semapv:UnspecifiedMatching @@ -35118,17 +40947,22 @@ Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref ICD10:D44.7 sema Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref ICD10:D44.7 semapv:UnspecifiedMatching Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref UMLS:C4707263 semapv:UnspecifiedMatching Orphanet:94083 Partington syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:94083 Partington syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:94083 Partington syndrome oboInOwl:hasDbXref MESH:C536300 semapv:UnspecifiedMatching Orphanet:94083 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching Orphanet:94083 Partington syndrome oboInOwl:hasDbXref UMLS:C0796250 semapv:UnspecifiedMatching +Orphanet:94083 Partington syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref UMLS:C1853623 semapv:UnspecifiedMatching Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref MESH:C536239 semapv:UnspecifiedMatching Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref OMIM:211000 semapv:UnspecifiedMatching Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref UMLS:C0268478 semapv:UnspecifiedMatching +Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching +Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref UMLS:C0406594 semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching @@ -35141,30 +40975,39 @@ Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:612076 sema Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref UMLS:C5681580 semapv:UnspecifiedMatching Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref icd11:GB90.4Y semapv:UnspecifiedMatching Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref MESH:C548075 semapv:UnspecifiedMatching Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref OMIM:603233 semapv:UnspecifiedMatching Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref UMLS:C2932715 semapv:UnspecifiedMatching +Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching +Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref MESH:C548077 semapv:UnspecifiedMatching Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref OMIM:203330 semapv:UnspecifiedMatching Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref UMLS:C2932717 semapv:UnspecifiedMatching +Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching Orphanet:94091 Mills syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:94091 Mills syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:94091 Mills syndrome oboInOwl:hasDbXref UMLS:C5191669 semapv:UnspecifiedMatching Orphanet:94091 Mills syndrome oboInOwl:hasDbXref icd11:8B60.Y semapv:UnspecifiedMatching Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10:G21.0 semapv:UnspecifiedMatching +Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10:G21.0 semapv:UnspecifiedMatching Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MESH:D009459 semapv:UnspecifiedMatching Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MedDRA:10029282 semapv:UnspecifiedMatching Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS:C0027849 semapv:UnspecifiedMatching +Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref icd11:8A0Y semapv:UnspecifiedMatching Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref UMLS:C0342765 semapv:UnspecifiedMatching +Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref icd11:5C50.7Y semapv:UnspecifiedMatching +Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref OMIM:601238 semapv:UnspecifiedMatching Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref UMLS:C1832585 semapv:UnspecifiedMatching Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref OMIM:607250 semapv:UnspecifiedMatching Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref UMLS:C4759870 semapv:UnspecifiedMatching Orphanet:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching @@ -35176,6 +41019,7 @@ Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 sema Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref OMIM:164500 semapv:UnspecifiedMatching Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref UMLS:C0752125 semapv:UnspecifiedMatching +Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:94148 Autosomal dominant cerebellar ataxia type III oboInOwl:hasDbXref UMLS:C5680260 semapv:UnspecifiedMatching Orphanet:94149 Autosomal dominant cerebellar ataxia type IV oboInOwl:hasDbXref UMLS:C5680261 semapv:UnspecifiedMatching Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching @@ -35189,8 +41033,10 @@ Orphanet:943 Malonic aciduria oboInOwl:hasDbXref OMIM:248360 semapv:UnspecifiedM Orphanet:943 Malonic aciduria oboInOwl:hasDbXref UMLS:C0342793 semapv:UnspecifiedMatching Orphanet:943 Malonic aciduria oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching Orphanet:945 Acalvaria oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:945 Acalvaria oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:945 Acalvaria oboInOwl:hasDbXref MESH:C535570 semapv:UnspecifiedMatching Orphanet:945 Acalvaria oboInOwl:hasDbXref UMLS:C2930936 semapv:UnspecifiedMatching +Orphanet:945 Acalvaria oboInOwl:hasDbXref icd11:LA00.0Y semapv:UnspecifiedMatching Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref MESH:C536892 semapv:UnspecifiedMatching @@ -35205,19 +41051,24 @@ Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:601992 semapv:UnspecifiedM Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref UMLS:C0016719 semapv:UnspecifiedMatching Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref icd11:8A03.10 semapv:UnspecifiedMatching Orphanet:950 Acrodysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:950 Acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching Orphanet:950 Acrodysostosis oboInOwl:hasDbXref MedDRA:10079856 semapv:UnspecifiedMatching Orphanet:950 Acrodysostosis oboInOwl:hasDbXref OMIM:101800 semapv:UnspecifiedMatching Orphanet:950 Acrodysostosis oboInOwl:hasDbXref OMIM:614613 semapv:UnspecifiedMatching Orphanet:950 Acrodysostosis oboInOwl:hasDbXref UMLS:C0220659 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching Orphanet:95157 Acute hepatic porphyria oboInOwl:hasDbXref MESH:C562618 semapv:UnspecifiedMatching +Orphanet:95157 Acute hepatic porphyria oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162569 semapv:UnspecifiedMatching +Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching Orphanet:95161 Chronic hepatic porphyria oboInOwl:hasDbXref UMLS:C5681578 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref OMIM:193530 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref UMLS:C0457013 semapv:UnspecifiedMatching @@ -35226,11 +41077,13 @@ Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref ICD10:Q04.3 Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref UMLS:C4749301 semapv:UnspecifiedMatching +Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref UMLS:C0151467 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref icd11:5A74.1 semapv:UnspecifiedMatching Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref ICD10:K91.2 semapv:UnspecifiedMatching +Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref ICD10:K91.2 semapv:UnspecifiedMatching Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref UMLS:C5681579 semapv:UnspecifiedMatching Orphanet:95428 COG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:95428 COG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -35249,15 +41102,19 @@ Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref ICD10:Q32.0 semapv:U Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref MESH:C557675 semapv:UnspecifiedMatching Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref MedDRA:10010654 semapv:UnspecifiedMatching Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref UMLS:C0392109 semapv:UnspecifiedMatching +Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref icd11:LA73.1 semapv:UnspecifiedMatching Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:O43.0 semapv:UnspecifiedMatching Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:O43.0 semapv:UnspecifiedMatching Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:P02.3 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:P02.3 semapv:UnspecifiedMatching Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref MESH:D005330 semapv:UnspecifiedMatching Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref MedDRA:10058328 semapv:UnspecifiedMatching Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref UMLS:C2909036 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref icd11:JA8A.0 semapv:UnspecifiedMatching Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref MESH:D018888 semapv:UnspecifiedMatching Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref MedDRA:10081268 semapv:UnspecifiedMatching Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref UMLS:C0282513 semapv:UnspecifiedMatching +Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref icd11:6D83 semapv:UnspecifiedMatching Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref MESH:C537309 semapv:UnspecifiedMatching @@ -35275,6 +41132,7 @@ Orphanet:95443 Mesocardia oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatch Orphanet:95443 Mesocardia oboInOwl:hasDbXref UMLS:C0265865 semapv:UnspecifiedMatching Orphanet:95443 Mesocardia oboInOwl:hasDbXref icd11:LA80.2 semapv:UnspecifiedMatching Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching +Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref MedDRA:10066801 semapv:UnspecifiedMatching Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref UMLS:C0265843 semapv:UnspecifiedMatching Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref icd11:LA8A.23 semapv:UnspecifiedMatching @@ -35284,7 +41142,10 @@ Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboI Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref UMLS:C3658302 semapv:UnspecifiedMatching Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref icd11:EB13 semapv:UnspecifiedMatching Orphanet:95457 Tricuspid valve agenesis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching +Orphanet:95457 Tricuspid valve agenesis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching Orphanet:95457 Tricuspid valve agenesis oboInOwl:hasDbXref UMLS:C0685715 semapv:UnspecifiedMatching +Orphanet:95457 Tricuspid valve agenesis oboInOwl:hasDbXref icd11:LA87.0Y semapv:UnspecifiedMatching +Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref MedDRA:10010656 semapv:UnspecifiedMatching Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref UMLS:C0265836 semapv:UnspecifiedMatching @@ -35292,6 +41153,7 @@ Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref icd11:LA87.01 se Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref UMLS:C5681575 semapv:UnspecifiedMatching +Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref icd11:LA87.0Y semapv:UnspecifiedMatching Orphanet:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching Orphanet:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching Orphanet:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref UMLS:C5566613 semapv:UnspecifiedMatching @@ -35300,10 +41162,12 @@ Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus oboInOwl:hasDbXref Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus oboInOwl:hasDbXref UMLS:C5681574 semapv:UnspecifiedMatching Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis oboInOwl:hasDbXref UMLS:C5681577 semapv:UnspecifiedMatching Orphanet:95465 Cleft mitral valve oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching +Orphanet:95465 Cleft mitral valve oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching Orphanet:95465 Cleft mitral valve oboInOwl:hasDbXref UMLS:C0344772 semapv:UnspecifiedMatching Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref UMLS:C0344770 semapv:UnspecifiedMatching +Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref icd11:LA87.1Y semapv:UnspecifiedMatching Orphanet:95483 Univentricular cardiopathy oboInOwl:hasDbXref UMLS:C5681576 semapv:UnspecifiedMatching Orphanet:95485 Arterial duct anomaly oboInOwl:hasDbXref UMLS:C5680258 semapv:UnspecifiedMatching Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching @@ -35317,6 +41181,7 @@ Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref ICD10:Q24. Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref UMLS:C0340627 semapv:UnspecifiedMatching Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref icd11:LA8C.Y semapv:UnspecifiedMatching Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:613986 semapv:UnspecifiedMatching @@ -35326,11 +41191,13 @@ Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref ICD10:E2 Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref MedDRA:10088621 semapv:UnspecifiedMatching Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref UMLS:C4053775 semapv:UnspecifiedMatching +Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:95498 Congenital anomaly of superior vena cava oboInOwl:hasDbXref UMLS:C0265928 semapv:UnspecifiedMatching Orphanet:95498 Congenital anomaly of superior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:95499 Congenital anomaly of the inferior vena cava oboInOwl:hasDbXref UMLS:C0265932 semapv:UnspecifiedMatching Orphanet:95499 Congenital anomaly of the inferior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D031845 semapv:UnspecifiedMatching Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102400 semapv:UnspecifiedMatching Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching @@ -35346,6 +41213,8 @@ Orphanet:95506 Primary hypophysitis oboInOwl:hasDbXref UMLS:C0342410 semapv:Unsp Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref UMLS:C3163825 semapv:UnspecifiedMatching +Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref icd11:LB20.0Y semapv:UnspecifiedMatching +Orphanet:95510 Atrial appendage anomaly oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:95510 Atrial appendage anomaly oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:95510 Atrial appendage anomaly oboInOwl:hasDbXref UMLS:C5680257 semapv:UnspecifiedMatching Orphanet:95512 Adenohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching @@ -35362,9 +41231,11 @@ Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 semapv:Unspecif Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref MESH:D010899 semapv:UnspecifiedMatching Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref MedDRA:10056447 semapv:UnspecifiedMatching Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref UMLS:C0032001 semapv:UnspecifiedMatching +Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease oboInOwl:hasDbXref UMLS:C5681566 semapv:UnspecifiedMatching Orphanet:95618 Pituitary hormone deficiency secondary to storage disease oboInOwl:hasDbXref UMLS:C5681565 semapv:UnspecifiedMatching Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching +Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref UMLS:C0342400 semapv:UnspecifiedMatching Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching @@ -35377,6 +41248,7 @@ Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduct Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref MESH:C566319 semapv:UnspecifiedMatching Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref OMIM:102510 semapv:UnspecifiedMatching Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref UMLS:C1863307 semapv:UnspecifiedMatching @@ -35385,6 +41257,7 @@ Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hor Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref OMIM:202150 semapv:UnspecifiedMatching Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref UMLS:C5190711 semapv:UnspecifiedMatching +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:202155 semapv:UnspecifiedMatching @@ -35392,17 +41265,24 @@ Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:300 Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref UMLS:C0342482 semapv:UnspecifiedMatching Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref icd11:LC80 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.2 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.2 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.3 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.3 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:146450 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300633 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300758 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300856 semapv:UnspecifiedMatching Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref UMLS:C5231010 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref icd11:LB53.2 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref icd11:LB53.3 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref icd11:LB53.4 semapv:UnspecifiedMatching +Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref UMLS:C5681560 semapv:UnspecifiedMatching Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref icd11:LB50 semapv:UnspecifiedMatching Orphanet:95708 Rare precocious puberty oboInOwl:hasDbXref UMLS:C5681561 semapv:UnspecifiedMatching Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching +Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C4303540 semapv:UnspecifiedMatching Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching @@ -35415,11 +41295,13 @@ Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref ICD10:E03.1 semapv:Unspecified Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref UMLS:C5681563 semapv:UnspecifiedMatching +Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:95713 Athyreosis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95713 Athyreosis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95713 Athyreosis oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching Orphanet:95713 Athyreosis oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching Orphanet:95713 Athyreosis oboInOwl:hasDbXref UMLS:C4305275 semapv:UnspecifiedMatching +Orphanet:95713 Athyreosis oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly oboInOwl:hasDbXref UMLS:C5681562 semapv:UnspecifiedMatching Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching @@ -35435,6 +41317,7 @@ Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274800 Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274900 semapv:UnspecifiedMatching Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref UMLS:C4273748 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref icd11:5A00.00 semapv:UnspecifiedMatching Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref UMLS:C4273913 semapv:UnspecifiedMatching @@ -35445,12 +41328,14 @@ Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:Unspec Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref MedDRA:10077609 semapv:UnspecifiedMatching Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref UMLS:C4023190 semapv:UnspecifiedMatching +Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref MedDRA:10065938 semapv:UnspecifiedMatching Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref UMLS:C0151516 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref MESH:C535665 semapv:UnspecifiedMatching @@ -35458,6 +41343,7 @@ Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref OMIM:200980 semap Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref UMLS:C1860166 semapv:UnspecifiedMatching Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:95854 Levocardia oboInOwl:hasDbXref ICD10:Q24.1 semapv:UnspecifiedMatching +Orphanet:95854 Levocardia oboInOwl:hasDbXref ICD10:Q24.1 semapv:UnspecifiedMatching Orphanet:95854 Levocardia oboInOwl:hasDbXref MESH:D007979 semapv:UnspecifiedMatching Orphanet:95854 Levocardia oboInOwl:hasDbXref MedDRA:10071015 semapv:UnspecifiedMatching Orphanet:95854 Levocardia oboInOwl:hasDbXref UMLS:C0023569 semapv:UnspecifiedMatching @@ -35475,6 +41361,7 @@ Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref icd11:8A03.10 se Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref UMLS:C4707057 semapv:UnspecifiedMatching +Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref UMLS:C4272018 semapv:UnspecifiedMatching @@ -35509,14 +41396,19 @@ Orphanet:96070 Distal duplication 2p oboInOwl:hasDbXref icd11:LD41.11 semapv:Uns Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref UMLS:C4706938 semapv:UnspecifiedMatching +Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref icd11:LD41.21 semapv:UnspecifiedMatching Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C4512053 semapv:UnspecifiedMatching +Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.31 semapv:UnspecifiedMatching Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref UMLS:C4706364 semapv:UnspecifiedMatching +Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref icd11:LD41.61 semapv:UnspecifiedMatching +Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref UMLS:C5681581 semapv:UnspecifiedMatching +Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref OMIM:613458 semapv:UnspecifiedMatching @@ -35524,25 +41416,31 @@ Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C451879 Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref UMLS:C4273676 semapv:UnspecifiedMatching +Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref icd11:LD41.P semapv:UnspecifiedMatching Orphanet:96094 Distal duplication 2q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96094 Distal duplication 2q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96094 Distal duplication 2q oboInOwl:hasDbXref UMLS:C4706361 semapv:UnspecifiedMatching Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref UMLS:C4755319 semapv:UnspecifiedMatching +Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.20 semapv:UnspecifiedMatching Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref UMLS:C4706362 semapv:UnspecifiedMatching +Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref icd11:LD41.30 semapv:UnspecifiedMatching Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref UMLS:C4706363 semapv:UnspecifiedMatching +Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref icd11:LD41.40 semapv:UnspecifiedMatching Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref MESH:C537810 semapv:UnspecifiedMatching Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref UMLS:C0795817 semapv:UnspecifiedMatching +Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref icd11:LD41.50 semapv:UnspecifiedMatching Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref UMLS:C4706365 semapv:UnspecifiedMatching +Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref icd11:LD41.70 semapv:UnspecifiedMatching Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref UMLS:C4706939 semapv:UnspecifiedMatching @@ -35559,9 +41457,11 @@ Orphanet:96103 Distal duplication 11q oboInOwl:hasDbXref UMLS:C2931797 semapv:Un Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref UMLS:C4706933 semapv:UnspecifiedMatching +Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref icd11:LD41.C semapv:UnspecifiedMatching Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref UMLS:C4706934 semapv:UnspecifiedMatching +Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref icd11:LD41.F0 semapv:UnspecifiedMatching Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref UMLS:C4706935 semapv:UnspecifiedMatching @@ -35569,6 +41469,7 @@ Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref icd11:LD41.K0 semapv:Un Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref UMLS:C4706936 semapv:UnspecifiedMatching +Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref icd11:LD41.M semapv:UnspecifiedMatching Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref UMLS:C4707261 semapv:UnspecifiedMatching @@ -35577,6 +41478,7 @@ Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref OMIM:609757 semapv:UnspecifiedMatching Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref UMLS:C4512054 semapv:UnspecifiedMatching +Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.60 semapv:UnspecifiedMatching Orphanet:96123 Monosomy 22 oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching Orphanet:96123 Monosomy 22 oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching Orphanet:96123 Monosomy 22 oboInOwl:hasDbXref UMLS:C0795878 semapv:UnspecifiedMatching @@ -35596,6 +41498,7 @@ Orphanet:96129 Distal deletion 19p oboInOwl:hasDbXref icd11:LD44.K1 semapv:Unspe Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref UMLS:C5190514 semapv:UnspecifiedMatching +Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref icd11:LD44.40 semapv:UnspecifiedMatching Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching @@ -35605,9 +41508,11 @@ Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:Unspeci Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref OMIM:609625 semapv:UnspecifiedMatching Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref UMLS:C4305277 semapv:UnspecifiedMatching +Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref icd11:LD44.A0 semapv:UnspecifiedMatching Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref UMLS:C5680262 semapv:UnspecifiedMatching +Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref icd11:LD44.C0 semapv:UnspecifiedMatching Orphanet:96150 Distal deletion 14q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96150 Distal deletion 14q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96150 Distal deletion 14q oboInOwl:hasDbXref UMLS:C4749276 semapv:UnspecifiedMatching @@ -35619,6 +41524,7 @@ Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:Unsp Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref MESH:C535296 semapv:UnspecifiedMatching Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref OMIM:179613 semapv:UnspecifiedMatching Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref UMLS:C0795822 semapv:UnspecifiedMatching +Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref icd11:LD41.P semapv:UnspecifiedMatching Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref OMIM:619148 semapv:UnspecifiedMatching @@ -35627,12 +41533,14 @@ Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref icd11:LD44.D semapv:Unspecified Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching +Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref ICD10:Q92.6 semapv:UnspecifiedMatching Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref ICD10:Q92.6 semapv:UnspecifiedMatching Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref MESH:C535733 semapv:UnspecifiedMatching Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref MedDRA:10079203 semapv:UnspecifiedMatching Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref OMIM:609029 semapv:UnspecifiedMatching Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref UMLS:C1836929 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref icd11:LD41.Q semapv:UnspecifiedMatching Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref UMLS:C4707448 semapv:UnspecifiedMatching @@ -35670,6 +41578,7 @@ Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref IC Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref UMLS:C4707720 semapv:UnspecifiedMatching Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref UMLS:C5680247 semapv:UnspecifiedMatching Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:96183 Maternal uniparental disomy of chromosome 9 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching @@ -35711,7 +41620,9 @@ Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref IC Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref UMLS:C4707802 semapv:UnspecifiedMatching Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref UMLS:C5680249 semapv:UnspecifiedMatching +Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref UMLS:C4275028 semapv:UnspecifiedMatching @@ -35723,37 +41634,49 @@ Orphanet:96195 Paternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref i Orphanet:96201 X small rings oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96201 X small rings oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96201 X small rings oboInOwl:hasDbXref UMLS:C4707824 semapv:UnspecifiedMatching +Orphanet:96201 X small rings oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:96210 Rare genetic deafness oboInOwl:hasDbXref UMLS:C5680250 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref MESH:D047748 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref MedDRA:10035109 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref OMIM:219090 semapv:UnspecifiedMatching Orphanet:96253 Cushing disease oboInOwl:hasDbXref UMLS:C0221406 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref icd11:5A70.0 semapv:UnspecifiedMatching Orphanet:96256 Somatotropic adenoma oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching +Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref MedDRA:10048228 semapv:UnspecifiedMatching Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref UMLS:C0265498 semapv:UnspecifiedMatching Orphanet:96264 49,XXXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching +Orphanet:96264 49,XXXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching Orphanet:96264 49,XXXXY syndrome oboInOwl:hasDbXref UMLS:C0265499 semapv:UnspecifiedMatching Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching Orphanet:96269 Isolated partial vaginal agenesis oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching Orphanet:96269 Isolated partial vaginal agenesis oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching +Orphanet:96269 Isolated partial vaginal agenesis oboInOwl:hasDbXref icd11:LB42.0 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching Orphanet:963 Acromegaly oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching Orphanet:963 Acromegaly oboInOwl:hasDbXref MESH:D000172 semapv:UnspecifiedMatching Orphanet:963 Acromegaly oboInOwl:hasDbXref MedDRA:10000599 semapv:UnspecifiedMatching Orphanet:963 Acromegaly oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching Orphanet:963 Acromegaly oboInOwl:hasDbXref OMIM:300943 semapv:UnspecifiedMatching Orphanet:963 Acromegaly oboInOwl:hasDbXref UMLS:C0001206 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref icd11:5A60.0 semapv:UnspecifiedMatching +Orphanet:96321 Polyploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching Orphanet:96321 Polyploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching Orphanet:96321 Polyploidy oboInOwl:hasDbXref MESH:D011123 semapv:UnspecifiedMatching Orphanet:96321 Polyploidy oboInOwl:hasDbXref UMLS:C0032578 semapv:UnspecifiedMatching +Orphanet:96321 Polyploidy oboInOwl:hasDbXref icd11:LD42 semapv:UnspecifiedMatching Orphanet:96325 Isochromosome Y oboInOwl:hasDbXref UMLS:C5681538 semapv:UnspecifiedMatching Orphanet:96333 Rare otorhinolaryngological malformation oboInOwl:hasDbXref UMLS:C5681539 semapv:UnspecifiedMatching Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching @@ -35774,16 +41697,19 @@ Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref IC Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref OMIM:201250 semapv:UnspecifiedMatching Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref UMLS:C2930970 semapv:UnspecifiedMatching +Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref MESH:C535662 semapv:UnspecifiedMatching Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref MedDRA:10083854 semapv:UnspecifiedMatching Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref OMIM:102370 semapv:UnspecifiedMatching Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref UMLS:C0265287 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref OMIM:108500 semapv:UnspecifiedMatching Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref UMLS:C1720416 semapv:UnspecifiedMatching +Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:201300 semapv:UnspecifiedMatching @@ -35791,6 +41717,8 @@ Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXr Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:613115 semapv:UnspecifiedMatching Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:614213 semapv:UnspecifiedMatching Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0020072 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref icd11:8C21.Y semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref MESH:C563159 semapv:UnspecifiedMatching Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref OMIM:102520 semapv:UnspecifiedMatching @@ -35806,6 +41734,7 @@ Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:619110 semapv:Unspe Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:620019 semapv:UnspecifiedMatching Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref UMLS:C0265213 semapv:UnspecifiedMatching Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref MESH:C563545 semapv:UnspecifiedMatching Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref UMLS:C1834559 semapv:UnspecifiedMatching @@ -35814,6 +41743,7 @@ Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref ICD10:I27.2 semapv:Unspec Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref ICD10:I27.2 semapv:UnspecifiedMatching Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref MedDRA:10058554 semapv:UnspecifiedMatching Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref UMLS:C0013743 semapv:UnspecifiedMatching +Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref icd11:BB01.0 semapv:UnspecifiedMatching Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref MESH:C537111 semapv:UnspecifiedMatching @@ -35822,21 +41752,25 @@ Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211500 Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref UMLS:C4551777 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref ICD10:L56.3 semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref ICD10:L56.3 semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MESH:D000092130 semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MedDRA:10041307 semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref UMLS:C0263610 semapv:UnspecifiedMatching +Orphanet:97230 Solar urticaria oboInOwl:hasDbXref icd11:EB01.Y semapv:UnspecifiedMatching Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref MedDRA:10071570 semapv:UnspecifiedMatching Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref UMLS:C1274789 semapv:UnspecifiedMatching Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref MESH:C564425 semapv:UnspecifiedMatching Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref OMIM:305550 semapv:UnspecifiedMatching Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref UMLS:C1844560 semapv:UnspecifiedMatching Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:261670 semapv:UnspecifiedMatching Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C0268149 semapv:UnspecifiedMatching Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching @@ -35848,23 +41782,28 @@ Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:606072 semapv:Uns Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref UMLS:C1853698 semapv:UnspecifiedMatching Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref icd11:8C71.Y semapv:UnspecifiedMatching Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300717 semapv:UnspecifiedMatching Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300718 semapv:UnspecifiedMatching Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref UMLS:C0270970 semapv:UnspecifiedMatching Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref UMLS:C0270969 semapv:UnspecifiedMatching Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:97242 Congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C0699743 semapv:UnspecifiedMatching Orphanet:97242 Congenital muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref MESH:C535683 semapv:UnspecifiedMatching Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref UMLS:C0410180 semapv:UnspecifiedMatching Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref MedDRA:10062547 semapv:UnspecifiedMatching Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref UMLS:C0270960 semapv:UnspecifiedMatching +Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref icd11:8C72 semapv:UnspecifiedMatching Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref MESH:C548072 semapv:UnspecifiedMatching @@ -35875,14 +41814,18 @@ Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:Unspeci Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref UMLS:C3164501 semapv:UnspecifiedMatching Orphanet:97253 Neuroendocrine tumor of pancreas oboInOwl:hasDbXref UMLS:C4305467 semapv:UnspecifiedMatching +Orphanet:97253 Neuroendocrine tumor of pancreas oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:97261 GRFoma oboInOwl:hasDbXref UMLS:C5680245 semapv:UnspecifiedMatching +Orphanet:97261 GRFoma oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:97275 Encephalitis oboInOwl:hasDbXref MESH:D004660 semapv:UnspecifiedMatching Orphanet:97275 Encephalitis oboInOwl:hasDbXref MedDRA:10014581 semapv:UnspecifiedMatching Orphanet:97275 Encephalitis oboInOwl:hasDbXref UMLS:C0014038 semapv:UnspecifiedMatching Orphanet:97278 PPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching +Orphanet:97278 PPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching Orphanet:97278 PPoma oboInOwl:hasDbXref UMLS:C0346407 semapv:UnspecifiedMatching +Orphanet:97278 PPoma oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:C25.4 semapv:UnspecifiedMatching Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:C25.4 semapv:UnspecifiedMatching Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D13.7 semapv:UnspecifiedMatching @@ -35892,21 +41835,30 @@ Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D37.7 semapv:UnspecifiedMatch Orphanet:97279 Insulinoma oboInOwl:hasDbXref MESH:D007340 semapv:UnspecifiedMatching Orphanet:97279 Insulinoma oboInOwl:hasDbXref MedDRA:10022498 semapv:UnspecifiedMatching Orphanet:97279 Insulinoma oboInOwl:hasDbXref UMLS:C0021670 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching +Orphanet:97280 Glucagonoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching Orphanet:97280 Glucagonoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching Orphanet:97280 Glucagonoma oboInOwl:hasDbXref MESH:D005935 semapv:UnspecifiedMatching Orphanet:97280 Glucagonoma oboInOwl:hasDbXref MedDRA:10018404 semapv:UnspecifiedMatching Orphanet:97280 Glucagonoma oboInOwl:hasDbXref UMLS:C0017689 semapv:UnspecifiedMatching +Orphanet:97280 Glucagonoma oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching Orphanet:97282 VIPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching Orphanet:97282 VIPoma oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching Orphanet:97282 VIPoma oboInOwl:hasDbXref MedDRA:10047430 semapv:UnspecifiedMatching Orphanet:97282 VIPoma oboInOwl:hasDbXref UMLS:C0011993 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:97282 VIPoma oboInOwl:hasDbXref icd11:XH72E5 semapv:UnspecifiedMatching Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching +Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref MESH:D013005 semapv:UnspecifiedMatching Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref MedDRA:10041329 semapv:UnspecifiedMatching Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref UMLS:C0037661 semapv:UnspecifiedMatching +Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching +Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref UMLS:C1336753 semapv:UnspecifiedMatching +Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref icd11:2B33.5 semapv:UnspecifiedMatching Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref MESH:C564650 semapv:UnspecifiedMatching @@ -35918,19 +41870,25 @@ Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref ICD10:D38.1 sem Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1334452 semapv:UnspecifiedMatching Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5681534 semapv:UnspecifiedMatching +Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref OMIM:605642 semapv:UnspecifiedMatching Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref UMLS:C5680246 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref icd11:2C90.Y semapv:UnspecifiedMatching +Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref ICD10:R57.0 semapv:UnspecifiedMatching Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref ICD10:R57.0 semapv:UnspecifiedMatching Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref MESH:D012770 semapv:UnspecifiedMatching Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref MedDRA:10007625 semapv:UnspecifiedMatching Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref UMLS:C0036980 semapv:UnspecifiedMatching +Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref icd11:MG40.0 semapv:UnspecifiedMatching Orphanet:97293 Rare benign ovarian tumor oboInOwl:hasDbXref UMLS:C5681535 semapv:UnspecifiedMatching Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref MESH:C538192 semapv:UnspecifiedMatching Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref UMLS:C2931764 semapv:UnspecifiedMatching @@ -35945,6 +41903,7 @@ Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilatera Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref OMIM:102650 semapv:UnspecifiedMatching Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MedDRA:10048627 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0039984 semapv:UnspecifiedMatching @@ -35955,16 +41914,21 @@ Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M93.1 semapv:Unspecifie Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M93.1 semapv:UnspecifiedMatching Orphanet:97332 Kienbock disease oboInOwl:hasDbXref MedDRA:10064242 semapv:UnspecifiedMatching Orphanet:97332 Kienbock disease oboInOwl:hasDbXref UMLS:C0022682 semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref icd11:FB81.0 semapv:UnspecifiedMatching Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref MedDRA:10031130 semapv:UnspecifiedMatching Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref UMLS:C0029376 semapv:UnspecifiedMatching +Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching +Orphanet:97336 Panner disease oboInOwl:hasDbXref ICD10:M92.0 semapv:UnspecifiedMatching Orphanet:97336 Panner disease oboInOwl:hasDbXref ICD10:M92.0 semapv:UnspecifiedMatching Orphanet:97336 Panner disease oboInOwl:hasDbXref UMLS:C4759831 semapv:UnspecifiedMatching +Orphanet:97336 Panner disease oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref ICD10:M92.4 semapv:UnspecifiedMatching Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref ICD10:M92.4 semapv:UnspecifiedMatching Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref MedDRA:10063585 semapv:UnspecifiedMatching Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref UMLS:C1504517 semapv:UnspecifiedMatching +Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching @@ -35979,26 +41943,32 @@ Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:Un Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref MESH:C536072 semapv:UnspecifiedMatching Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref OMIM:601379 semapv:UnspecifiedMatching Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref UMLS:C1832408 semapv:UnspecifiedMatching +Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref UMLS:C4304823 semapv:UnspecifiedMatching Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref icd11:9B78.3Y semapv:UnspecifiedMatching Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref MESH:C538208 semapv:UnspecifiedMatching Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref UMLS:C5190835 semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref MESH:C538209 semapv:UnspecifiedMatching Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref UMLS:C1861735 semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref icd11:5D00.2Y semapv:UnspecifiedMatching Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref ICD10:G21.3 semapv:UnspecifiedMatching Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref ICD10:G21.3 semapv:UnspecifiedMatching Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref MESH:D010301 semapv:UnspecifiedMatching Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref UMLS:C0030568 semapv:UnspecifiedMatching +Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref icd11:8A00.22 semapv:UnspecifiedMatching Orphanet:97352 Pellagra oboInOwl:hasDbXref ICD10:E52 semapv:UnspecifiedMatching Orphanet:97352 Pellagra oboInOwl:hasDbXref ICD10:E52 semapv:UnspecifiedMatching Orphanet:97352 Pellagra oboInOwl:hasDbXref MESH:D010383 semapv:UnspecifiedMatching @@ -36009,13 +41979,17 @@ Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref ICD10:F01.8 semapv:Unspec Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref ICD10:F01.8 semapv:UnspecifiedMatching Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref MedDRA:10087801 semapv:UnspecifiedMatching Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref UMLS:C0149843 semapv:UnspecifiedMatching +Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref icd11:8A00.25 semapv:UnspecifiedMatching +Orphanet:97354 NON RARE IN EUROPE: Wernicke encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching Orphanet:97354 NON RARE IN EUROPE: Wernicke encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:F02.3* semapv:UnspecifiedMatching Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:F02.3* semapv:UnspecifiedMatching Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:G20+ semapv:UnspecifiedMatching +Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:G20+ semapv:UnspecifiedMatching Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref UMLS:C4275027 semapv:UnspecifiedMatching Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref MESH:C562492 semapv:UnspecifiedMatching Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref MedDRA:10084325 semapv:UnspecifiedMatching Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching @@ -36026,9 +42000,11 @@ Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:Unspecif Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref UMLS:C0431691 semapv:UnspecifiedMatching +Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref icd11:LB30.0Y semapv:UnspecifiedMatching Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref UMLS:C0431692 semapv:UnspecifiedMatching +Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref icd11:LB30.0Y semapv:UnspecifiedMatching Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1567426 semapv:UnspecifiedMatching @@ -36039,13 +42015,22 @@ Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MESH:C Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1840451 semapv:UnspecifiedMatching Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref icd11:LB30.9 semapv:UnspecifiedMatching Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst oboInOwl:hasDbXref ICD10:N28.1 semapv:UnspecifiedMatching +Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst oboInOwl:hasDbXref ICD10:N28.1 semapv:UnspecifiedMatching +Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref UMLS:C0431719 semapv:UnspecifiedMatching Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref icd11:LB30.3 semapv:UnspecifiedMatching +Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref icd11:LB30.3 semapv:UnspecifiedMatching +Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref OMIM:267430 semapv:UnspecifiedMatching Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref UMLS:C5681536 semapv:UnspecifiedMatching +Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref icd11:LB30.3 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref MESH:C538225 semapv:UnspecifiedMatching Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref MedDRA:10079369 semapv:UnspecifiedMatching @@ -36058,11 +42043,16 @@ Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616589 semapv:Unspeci Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref UMLS:C0265268 semapv:UnspecifiedMatching Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching +Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref MedDRA:10068335 semapv:UnspecifiedMatching Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref UMLS:C3178806 semapv:UnspecifiedMatching +Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref icd11:LA8Y semapv:UnspecifiedMatching +Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref OMIM:614692 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0086445 semapv:UnspecifiedMatching @@ -36071,18 +42061,26 @@ Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria oboInOwl:hasDbXref Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref UMLS:C5680254 semapv:UnspecifiedMatching +Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref icd11:MF84 semapv:UnspecifiedMatching Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref UMLS:C5680253 semapv:UnspecifiedMatching +Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref icd11:MF84 semapv:UnspecifiedMatching +Orphanet:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching Orphanet:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching Orphanet:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref UMLS:C4273674 semapv:UnspecifiedMatching Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching +Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref MedDRA:10067871 semapv:UnspecifiedMatching Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref UMLS:C2242534 semapv:UnspecifiedMatching +Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref icd11:5D00.Y semapv:UnspecifiedMatching +Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011547 semapv:UnspecifiedMatching Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MedDRA:10037126 semapv:UnspecifiedMatching Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033806 semapv:UnspecifiedMatching +Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching +Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref ICD10:Q27.1 semapv:UnspecifiedMatching Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref ICD10:Q27.1 semapv:UnspecifiedMatching Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref UMLS:C0495523 semapv:UnspecifiedMatching Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref icd11:LA90.40 semapv:UnspecifiedMatching @@ -36107,6 +42105,8 @@ Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref ICD10:E27.4 semapv:Unspecifie Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref MESH:C538051 semapv:UnspecifiedMatching Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref OMIM:300270 semapv:UnspecifiedMatching Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref UMLS:C1846044 semapv:UnspecifiedMatching +Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref icd11:5A74.Y semapv:UnspecifiedMatching +Orphanet:978 ADULT syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:978 ADULT syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:978 ADULT syndrome oboInOwl:hasDbXref MESH:C538052 semapv:UnspecifiedMatching Orphanet:978 ADULT syndrome oboInOwl:hasDbXref OMIM:103285 semapv:UnspecifiedMatching @@ -36132,6 +42132,7 @@ Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:h Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref UMLS:C0265905 semapv:UnspecifiedMatching +Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref icd11:LA8B.1 semapv:UnspecifiedMatching Orphanet:98004 Rare immune disease oboInOwl:hasDbXref UMLS:C5681541 semapv:UnspecifiedMatching Orphanet:98006 Rare neurologic disease oboInOwl:hasDbXref UMLS:C5680252 semapv:UnspecifiedMatching Orphanet:98010 Infectious disease of the nervous system oboInOwl:hasDbXref UMLS:C0597039 semapv:UnspecifiedMatching @@ -36178,10 +42179,13 @@ Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia oboInOwl:hasDbXre Orphanet:981 Internal carotid absence oboInOwl:hasDbXref ICD10:Q28.1 semapv:UnspecifiedMatching Orphanet:981 Internal carotid absence oboInOwl:hasDbXref ICD10:Q28.1 semapv:UnspecifiedMatching Orphanet:981 Internal carotid absence oboInOwl:hasDbXref UMLS:C4302907 semapv:UnspecifiedMatching +Orphanet:981 Internal carotid absence oboInOwl:hasDbXref icd11:LA90.4Y semapv:UnspecifiedMatching Orphanet:98127 Autosomal anomaly oboInOwl:hasDbXref UMLS:C5681496 semapv:UnspecifiedMatching Orphanet:98130 Autosomal trisomy oboInOwl:hasDbXref UMLS:C0041107 semapv:UnspecifiedMatching Orphanet:98131 Total autosomal trisomy oboInOwl:hasDbXref UMLS:C5681498 semapv:UnspecifiedMatching Orphanet:98141 Total autosomal monosomy oboInOwl:hasDbXref UMLS:C5681502 semapv:UnspecifiedMatching +Orphanet:98141 Total autosomal monosomy oboInOwl:hasDbXref icd11:LD43.0 semapv:UnspecifiedMatching +Orphanet:98142 Partial autosomal deletion oboInOwl:hasDbXref icd11:LD44 semapv:UnspecifiedMatching Orphanet:98152 Autosomal uniparental disomy oboInOwl:hasDbXref UMLS:C5681500 semapv:UnspecifiedMatching Orphanet:98153 Maternal uniparental disomy oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching Orphanet:98154 Paternal uniparental disomy oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching @@ -36190,6 +42194,8 @@ Orphanet:98155 Sex-chromosome anomaly oboInOwl:hasDbXref UMLS:C0036868 semapv:Un Orphanet:98156 Sex-chromosome number anomaly oboInOwl:hasDbXref UMLS:C5680212 semapv:UnspecifiedMatching Orphanet:98157 Sex-chromosome structural anomaly oboInOwl:hasDbXref UMLS:C5680213 semapv:UnspecifiedMatching Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref icd11:LD53 semapv:UnspecifiedMatching Orphanet:98159 Chromosome X structural anomaly oboInOwl:hasDbXref UMLS:C5681501 semapv:UnspecifiedMatching Orphanet:98196 Malformation syndrome with hamartosis oboInOwl:hasDbXref UMLS:C5680230 semapv:UnspecifiedMatching Orphanet:98203 Combined dystonia oboInOwl:hasDbXref UMLS:C5680244 semapv:UnspecifiedMatching @@ -36209,6 +42215,7 @@ Orphanet:98259 Childhood-onset epilepsy syndrome oboInOwl:hasDbXref UMLS:C568152 Orphanet:98260 Adolescent-onset epilepsy syndrome oboInOwl:hasDbXref UMLS:C5681525 semapv:UnspecifiedMatching Orphanet:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching Orphanet:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0751778 semapv:UnspecifiedMatching +Orphanet:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref icd11:8A61.41 semapv:UnspecifiedMatching Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref UMLS:C5680229 semapv:UnspecifiedMatching @@ -36224,6 +42231,7 @@ Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref MESH:D054219 semapv:Unspecif Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref UMLS:C1959632 semapv:UnspecifiedMatching Orphanet:98288 Macrophage or histiocytic tumor oboInOwl:hasDbXref UMLS:C5681531 semapv:UnspecifiedMatching Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref UMLS:C5681852 semapv:UnspecifiedMatching Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease oboInOwl:hasDbXref UMLS:C5681530 semapv:UnspecifiedMatching Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease oboInOwl:hasDbXref icd11:2B32 semapv:UnspecifiedMatching @@ -36237,12 +42245,15 @@ Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref MESH:D006689 semapv:Unspecifi Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0019829 semapv:UnspecifiedMatching Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref icd11:2B30 semapv:UnspecifiedMatching Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching +Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref OMIM:273250 semapv:UnspecifiedMatching Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref UMLS:C0266427 semapv:UnspecifiedMatching +Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref icd11:LD2A.Y semapv:UnspecifiedMatching Orphanet:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref MESH:D054988 semapv:UnspecifiedMatching Orphanet:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS:C2350236 semapv:UnspecifiedMatching Orphanet:98301 Laminopathy oboInOwl:hasDbXref MESH:D000083083 semapv:UnspecifiedMatching Orphanet:98305 Genetic lipodystrophy oboInOwl:hasDbXref UMLS:C4511302 semapv:UnspecifiedMatching +Orphanet:98305 Genetic lipodystrophy oboInOwl:hasDbXref icd11:LD27.6 semapv:UnspecifiedMatching Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MedDRA:10087377 semapv:UnspecifiedMatching Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C0271694 semapv:UnspecifiedMatching @@ -36257,29 +42268,38 @@ Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma obo Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5680347 semapv:UnspecifiedMatching Orphanet:98360 Constitutional anemia due to iron metabolism disorder oboInOwl:hasDbXref UMLS:C5681718 semapv:UnspecifiedMatching Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref UMLS:C0221018 semapv:UnspecifiedMatching Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref icd11:3A72.0 semapv:UnspecifiedMatching Orphanet:98363 Rare hemolytic anemia oboInOwl:hasDbXref UMLS:C5681717 semapv:UnspecifiedMatching Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly oboInOwl:hasDbXref UMLS:C5681716 semapv:UnspecifiedMatching Orphanet:98365 Hereditary stomatocytosis oboInOwl:hasDbXref MedDRA:10053589 semapv:UnspecifiedMatching Orphanet:98365 Hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C1262483 semapv:UnspecifiedMatching +Orphanet:98365 Hereditary stomatocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis oboInOwl:hasDbXref UMLS:C0687751 semapv:UnspecifiedMatching +Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder oboInOwl:hasDbXref UMLS:C5681715 semapv:UnspecifiedMatching Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies oboInOwl:hasDbXref UMLS:C5681714 semapv:UnspecifiedMatching Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies oboInOwl:hasDbXref icd11:3A10.0 semapv:UnspecifiedMatching Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref UMLS:C5681713 semapv:UnspecifiedMatching +Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching +Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref UMLS:C5680359 semapv:UnspecifiedMatching +Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MedDRA:10002046 semapv:UnspecifiedMatching Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0002880 semapv:UnspecifiedMatching Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref icd11:3A20 semapv:UnspecifiedMatching Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder oboInOwl:hasDbXref UMLS:C5681709 semapv:UnspecifiedMatching Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref ICD10:Q33.3 semapv:UnspecifiedMatching +Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref ICD10:Q33.3 semapv:UnspecifiedMatching Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref MESH:C562992 semapv:UnspecifiedMatching Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref MedDRA:10037322 semapv:UnspecifiedMatching Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref UMLS:C0265780 semapv:UnspecifiedMatching +Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref icd11:LA75.1 semapv:UnspecifiedMatching Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder oboInOwl:hasDbXref UMLS:C5681711 semapv:UnspecifiedMatching Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia oboInOwl:hasDbXref UMLS:C5681710 semapv:UnspecifiedMatching Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia oboInOwl:hasDbXref icd11:3A03.Y semapv:UnspecifiedMatching @@ -36289,6 +42309,7 @@ Orphanet:98427 Polycythemia oboInOwl:hasDbXref MESH:D011086 semapv:UnspecifiedMa Orphanet:98427 Polycythemia oboInOwl:hasDbXref MedDRA:10036051 semapv:UnspecifiedMatching Orphanet:98427 Polycythemia oboInOwl:hasDbXref UMLS:C0032461 semapv:UnspecifiedMatching Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref MedDRA:10036062 semapv:UnspecifiedMatching Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref UMLS:C1318533 semapv:UnspecifiedMatching Orphanet:98429 Rare coagulation disorder oboInOwl:hasDbXref UMLS:C5681721 semapv:UnspecifiedMatching @@ -36297,18 +42318,23 @@ Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting fa Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:277450 semapv:UnspecifiedMatching Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:607473 semapv:UnspecifiedMatching Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS:C4510617 semapv:UnspecifiedMatching +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref icd11:3B14.2 semapv:UnspecifiedMatching Orphanet:98455 Alpha granule disease oboInOwl:hasDbXref UMLS:C5681720 semapv:UnspecifiedMatching +Orphanet:98455 Alpha granule disease oboInOwl:hasDbXref icd11:3B62.00 semapv:UnspecifiedMatching Orphanet:98456 Dense granule disease oboInOwl:hasDbXref UMLS:C5680362 semapv:UnspecifiedMatching Orphanet:98456 Dense granule disease oboInOwl:hasDbXref icd11:3B62.3 semapv:UnspecifiedMatching Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref MESH:D009135 semapv:UnspecifiedMatching Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref MedDRA:10028641 semapv:UnspecifiedMatching Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref UMLS:C1533847 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref MESH:D009136 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref MedDRA:10028356 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref UMLS:C0026850 semapv:UnspecifiedMatching +Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref icd11:8C70 semapv:UnspecifiedMatching Orphanet:98482 Idiopathic inflammatory myopathy oboInOwl:hasDbXref MedDRA:10085970 semapv:UnspecifiedMatching Orphanet:98482 Idiopathic inflammatory myopathy oboInOwl:hasDbXref UMLS:C0751356 semapv:UnspecifiedMatching +Orphanet:98482 Idiopathic inflammatory myopathy oboInOwl:hasDbXref icd11:4A41 semapv:UnspecifiedMatching Orphanet:98486 Metabolic myopathy oboInOwl:hasDbXref MedDRA:10068836 semapv:UnspecifiedMatching Orphanet:98486 Metabolic myopathy oboInOwl:hasDbXref UMLS:C0270984 semapv:UnspecifiedMatching Orphanet:98491 Neuromuscular junction disease oboInOwl:hasDbXref MESH:D020511 semapv:UnspecifiedMatching @@ -36322,6 +42348,7 @@ Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:Unspec Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref MedDRA:10028003 semapv:UnspecifiedMatching Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref UMLS:C0085084 semapv:UnspecifiedMatching +Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref icd11:8B60 semapv:UnspecifiedMatching Orphanet:98505 Genetic motor neuron disease oboInOwl:hasDbXref UMLS:C5680368 semapv:UnspecifiedMatching Orphanet:98506 Acquired motor neuron disease oboInOwl:hasDbXref UMLS:C5680367 semapv:UnspecifiedMatching Orphanet:98514 Malformation of the cerebellar vermis oboInOwl:hasDbXref UMLS:C5681737 semapv:UnspecifiedMatching @@ -36345,11 +42372,13 @@ Orphanet:98557 Syndromic aniridia oboInOwl:hasDbXref UMLS:C5681658 semapv:Unspec Orphanet:98560 Rare palpebral disorder oboInOwl:hasDbXref UMLS:C5681654 semapv:UnspecifiedMatching Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref MedDRA:10011497 semapv:UnspecifiedMatching Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref UMLS:C0311249 semapv:UnspecifiedMatching +Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching Orphanet:98563 Microblepharon-ablephara syndrome oboInOwl:hasDbXref UMLS:C5681656 semapv:UnspecifiedMatching Orphanet:98564 Eyelid border anomaly oboInOwl:hasDbXref UMLS:C5681655 semapv:UnspecifiedMatching Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum oboInOwl:hasDbXref UMLS:C5680329 semapv:UnspecifiedMatching Orphanet:98566 Syndromic eyelid coloboma oboInOwl:hasDbXref UMLS:C5680328 semapv:UnspecifiedMatching Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching +Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref UMLS:C0266578 semapv:UnspecifiedMatching Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching Orphanet:98571 Secondary ectropion oboInOwl:hasDbXref ICD10:H02.1 semapv:UnspecifiedMatching @@ -36366,12 +42395,14 @@ Orphanet:98604 Congenital alacrima oboInOwl:hasDbXref MESH:C566307 semapv:Unspec Orphanet:98604 Congenital alacrima oboInOwl:hasDbXref UMLS:C1863199 semapv:UnspecifiedMatching Orphanet:98605 Lacrimal drainage system anomaly oboInOwl:hasDbXref UMLS:C5680325 semapv:UnspecifiedMatching Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref ICD10:Q10.7 semapv:UnspecifiedMatching +Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref ICD10:Q10.7 semapv:UnspecifiedMatching Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref OMIM:165600 semapv:UnspecifiedMatching Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref UMLS:C4273912 semapv:UnspecifiedMatching Orphanet:98609 EEC syndrome and related disorders oboInOwl:hasDbXref UMLS:C5680323 semapv:UnspecifiedMatching Orphanet:98610 Rare disorder with conjunctival involvement as a major feature oboInOwl:hasDbXref UMLS:C5681650 semapv:UnspecifiedMatching Orphanet:98618 Rare refraction anomaly oboInOwl:hasDbXref UMLS:C5681677 semapv:UnspecifiedMatching Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref ICD10:H52.1 semapv:UnspecifiedMatching +Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref ICD10:H52.1 semapv:UnspecifiedMatching Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:608908 semapv:UnspecifiedMatching Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:614292 semapv:UnspecifiedMatching Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:615431 semapv:UnspecifiedMatching @@ -36431,8 +42462,11 @@ Orphanet:98685 Rare oculomotor nerve disorder oboInOwl:hasDbXref UMLS:C5681697 s Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref UMLS:C5680340 semapv:UnspecifiedMatching +Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref icd11:9C81.1 semapv:UnspecifiedMatching Orphanet:98687 Supranuclear eye movement disorder oboInOwl:hasDbXref UMLS:C5681698 semapv:UnspecifiedMatching Orphanet:98688 Oculomotor apraxia oboInOwl:hasDbXref UMLS:C3489733 semapv:UnspecifiedMatching +Orphanet:98688 Oculomotor apraxia oboInOwl:hasDbXref icd11:9C82.4 semapv:UnspecifiedMatching +Orphanet:98706 Oculocutaneous or ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:98706 Oculocutaneous or ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:98706 Oculocutaneous or ocular albinism oboInOwl:hasDbXref UMLS:C5681694 semapv:UnspecifiedMatching Orphanet:98715 Uveitis oboInOwl:hasDbXref MESH:D014605 semapv:UnspecifiedMatching @@ -36445,6 +42479,7 @@ Orphanet:98719 Pulmonary artery or pulmonary branch anomaly oboInOwl:hasDbXref U Orphanet:98720 Atrioventricular valve anomaly oboInOwl:hasDbXref UMLS:C5681693 semapv:UnspecifiedMatching Orphanet:98721 Congenital tricuspid malformation oboInOwl:hasDbXref UMLS:C5681691 semapv:UnspecifiedMatching Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref MESH:C562831 semapv:UnspecifiedMatching Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref MedDRA:10063836 semapv:UnspecifiedMatching Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:600309 semapv:UnspecifiedMatching @@ -36454,6 +42489,8 @@ Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:614430 sem Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:614474 semapv:UnspecifiedMatching Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref UMLS:C1389018 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref icd11:LA87.4 semapv:UnspecifiedMatching +Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref MedDRA:10064962 semapv:UnspecifiedMatching Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS:C0344963 semapv:UnspecifiedMatching @@ -36479,76 +42516,93 @@ Orphanet:98748 Neurological channelopathy of the central nervous system due to a Orphanet:98749 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect oboInOwl:hasDbXref UMLS:C5681702 semapv:UnspecifiedMatching Orphanet:98750 Autoimmune neurological channelopathy oboInOwl:hasDbXref UMLS:C5681703 semapv:UnspecifiedMatching Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref UMLS:C5680343 semapv:UnspecifiedMatching +Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref OMIM:164400 semapv:UnspecifiedMatching Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref UMLS:C0752120 semapv:UnspecifiedMatching +Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref OMIM:183090 semapv:UnspecifiedMatching Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref UMLS:C0752121 semapv:UnspecifiedMatching +Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref MESH:D017827 semapv:UnspecifiedMatching Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref UMLS:C0024408 semapv:UnspecifiedMatching +Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref OMIM:183086 semapv:UnspecifiedMatching Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref UMLS:C0752124 semapv:UnspecifiedMatching +Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref MESH:C564616 semapv:UnspecifiedMatching Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref OMIM:607136 semapv:UnspecifiedMatching Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref UMLS:C1846707 semapv:UnspecifiedMatching +Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref MESH:C537307 semapv:UnspecifiedMatching Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref OMIM:608768 semapv:UnspecifiedMatching Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref UMLS:C1837454 semapv:UnspecifiedMatching +Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref MESH:C566874 semapv:UnspecifiedMatching Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref OMIM:603516 semapv:UnspecifiedMatching Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref UMLS:C1963674 semapv:UnspecifiedMatching +Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref MESH:C565790 semapv:UnspecifiedMatching Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref OMIM:604326 semapv:UnspecifiedMatching Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref UMLS:C1858501 semapv:UnspecifiedMatching +Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref MESH:C537196 semapv:UnspecifiedMatching Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref OMIM:605361 semapv:UnspecifiedMatching Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref UMLS:C1854369 semapv:UnspecifiedMatching +Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref MESH:C537204 semapv:UnspecifiedMatching Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref OMIM:193003 semapv:UnspecifiedMatching Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref UMLS:C1836383 semapv:UnspecifiedMatching +Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:600223 semapv:UnspecifiedMatching Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C0752122 semapv:UnspecifiedMatching +Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref OMIM:600224 semapv:UnspecifiedMatching Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref UMLS:C0752123 semapv:UnspecifiedMatching +Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref MESH:C565772 semapv:UnspecifiedMatching Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref OMIM:604432 semapv:UnspecifiedMatching Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref UMLS:C1858351 semapv:UnspecifiedMatching +Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref MESH:C537195 semapv:UnspecifiedMatching Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref OMIM:605259 semapv:UnspecifiedMatching Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref UMLS:C1854488 semapv:UnspecifiedMatching +Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching +Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching @@ -36557,16 +42611,20 @@ Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 sem Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref MESH:C537197 semapv:UnspecifiedMatching Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref OMIM:607458 semapv:UnspecifiedMatching Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref UMLS:C1843884 semapv:UnspecifiedMatching +Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref MESH:C537198 semapv:UnspecifiedMatching Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref UMLS:C5235656 semapv:UnspecifiedMatching +Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref MESH:C537200 semapv:UnspecifiedMatching Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref OMIM:607454 semapv:UnspecifiedMatching Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref UMLS:C1843891 semapv:UnspecifiedMatching +Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref MESH:C579932 semapv:UnspecifiedMatching Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:600513 semapv:UnspecifiedMatching @@ -36581,12 +42639,15 @@ Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv: Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref UMLS:C0796117 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref MESH:C563050 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref OMIM:141750 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref UMLS:C0795917 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref icd11:3A50.1 semapv:UnspecifiedMatching Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref UMLS:C5681699 semapv:UnspecifiedMatching +Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching @@ -36596,10 +42657,13 @@ Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosom Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref UMLS:C5680342 semapv:UnspecifiedMatching Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching Orphanet:98797 Isochromosomy Yp oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98797 Isochromosomy Yp oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching Orphanet:98797 Isochromosomy Yp oboInOwl:hasDbXref UMLS:C4707793 semapv:UnspecifiedMatching Orphanet:98798 Isochromosomy Yq oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98798 Isochromosomy Yq oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching Orphanet:98798 Isochromosomy Yq oboInOwl:hasDbXref UMLS:C4749291 semapv:UnspecifiedMatching Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref MESH:C535564 semapv:UnspecifiedMatching Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref UMLS:C4707180 semapv:UnspecifiedMatching @@ -36625,37 +42689,48 @@ Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref IC Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:619911 semapv:UnspecifiedMatching +Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref icd11:8A02.11 semapv:UnspecifiedMatching +Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:128200 semapv:UnspecifiedMatching Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611031 semapv:UnspecifiedMatching Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C1868682 semapv:UnspecifiedMatching Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MESH:C537181 semapv:UnspecifiedMatching Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:118800 semapv:UnspecifiedMatching Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611147 semapv:UnspecifiedMatching Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C5680312 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref MESH:C564288 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref UMLS:C1842534 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref UMLS:C0393777 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref MESH:C536181 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref UMLS:C1846006 semapv:UnspecifiedMatching Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MedDRA:10052075 semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS:C0282512 semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref icd11:8A62.2 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref MESH:C536956 semapv:UnspecifiedMatching Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:608096 semapv:UnspecifiedMatching @@ -36663,6 +42738,7 @@ Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611631 se Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C1842564 semapv:UnspecifiedMatching Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:604364 semapv:UnspecifiedMatching Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617116 semapv:UnspecifiedMatching Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617118 semapv:UnspecifiedMatching @@ -36681,6 +42757,7 @@ Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10054 Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C1292772 semapv:UnspecifiedMatching Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref icd11:2A41 semapv:UnspecifiedMatching Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref ICD10:C94.6 semapv:UnspecifiedMatching +Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref ICD10:C94.6 semapv:UnspecifiedMatching Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref UMLS:C1328061 semapv:UnspecifiedMatching Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref icd11:2A44 semapv:UnspecifiedMatching Orphanet:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching @@ -36692,47 +42769,63 @@ Orphanet:98826 Refractory anemia oboInOwl:hasDbXref icd11:2A30 semapv:Unspecifie Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C5681636 semapv:UnspecifiedMatching +Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref icd11:2A37 semapv:UnspecifiedMatching +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref UMLS:C5395080 semapv:UnspecifiedMatching Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching +Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref UMLS:C1292775 semapv:UnspecifiedMatching Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref icd11:XH1E41 semapv:UnspecifiedMatching Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS:C0522631 semapv:UnspecifiedMatching +Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref icd11:2A60.30 semapv:UnspecifiedMatching Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref icd11:XH90G0 semapv:UnspecifiedMatching Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref UMLS:C0026998 semapv:UnspecifiedMatching +Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref icd11:2A60.31 semapv:UnspecifiedMatching Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref UMLS:C1879321 semapv:UnspecifiedMatching +Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref icd11:2A60.32 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref MedDRA:10045516 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref UMLS:C0280141 semapv:UnspecifiedMatching +Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref icd11:2A60.30 semapv:UnspecifiedMatching Orphanet:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10036710 semapv:UnspecifiedMatching Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1292754 semapv:UnspecifiedMatching +Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref icd11:2A81.0 semapv:UnspecifiedMatching +Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10069643 semapv:UnspecifiedMatching Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref UMLS:C0334660 semapv:UnspecifiedMatching Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref icd11:2A81.1 semapv:UnspecifiedMatching Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref MESH:D017728 semapv:UnspecifiedMatching Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C0206180 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:2A90.A semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:2A90.B semapv:UnspecifiedMatching +Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MESH:D017731 semapv:UnspecifiedMatching Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MedDRA:10056670 semapv:UnspecifiedMatching Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref UMLS:C0206182 semapv:UnspecifiedMatching +Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref icd11:2B03.1 semapv:UnspecifiedMatching Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref MedDRA:10020244 semapv:UnspecifiedMatching @@ -36742,6 +42835,7 @@ Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXr Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref MedDRA:10020242 semapv:UnspecifiedMatching Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref UMLS:C0152266 semapv:UnspecifiedMatching +Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref icd11:2B30.12 semapv:UnspecifiedMatching Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref MedDRA:10020231 semapv:UnspecifiedMatching @@ -36751,35 +42845,49 @@ Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDb Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref MedDRA:10020219 semapv:UnspecifiedMatching Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref UMLS:C0152267 semapv:UnspecifiedMatching +Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref icd11:2B30.13 semapv:UnspecifiedMatching +Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056452 semapv:UnspecifiedMatching Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref UMLS:C0272203 semapv:UnspecifiedMatching Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref icd11:XH2Y59 semapv:UnspecifiedMatching Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref UMLS:C1301365 semapv:UnspecifiedMatching Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching +Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref icd11:XH5195 semapv:UnspecifiedMatching +Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056453 semapv:UnspecifiedMatching Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref UMLS:C1112486 semapv:UnspecifiedMatching Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching +Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref icd11:XH10N1 semapv:UnspecifiedMatching +Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref MedDRA:10056450 semapv:UnspecifiedMatching Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref UMLS:C0023461 semapv:UnspecifiedMatching Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref icd11:2A21.00 semapv:UnspecifiedMatching Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref OMIM:263000 semapv:UnspecifiedMatching Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS:C0238378 semapv:UnspecifiedMatching +Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref icd11:CB03.3 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612998 semapv:UnspecifiedMatching Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 semapv:UnspecifiedMatching Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410190 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref icd11:8C70.2 semapv:UnspecifiedMatching +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C1450051 semapv:UnspecifiedMatching +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref icd11:8C70.2 semapv:UnspecifiedMatching +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537990 semapv:UnspecifiedMatching Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 semapv:UnspecifiedMatching @@ -36790,10 +42898,12 @@ Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref IC Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref UMLS:C0022521 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D000083143 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0751337 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref icd11:8C70.2 semapv:UnspecifiedMatching Orphanet:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching Orphanet:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching Orphanet:98865 Homozygous hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching @@ -36806,14 +42916,19 @@ Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 semap Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref OMIM:166900 semapv:UnspecifiedMatching Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref UMLS:C1862322 semapv:UnspecifiedMatching +Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching +Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref UMLS:C0271933 semapv:UnspecifiedMatching +Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching +Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:619789 semapv:UnspecifiedMatching Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS:C0271934 semapv:UnspecifiedMatching +Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref ICD10:D60.1 semapv:UnspecifiedMatching Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref ICD10:D60.1 semapv:UnspecifiedMatching Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref MESH:C536980 semapv:UnspecifiedMatching @@ -36823,9 +42938,13 @@ Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref icd1 Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref ICD10:D60.0 semapv:UnspecifiedMatching Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref ICD10:D60.0 semapv:UnspecifiedMatching Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref UMLS:C4707560 semapv:UnspecifiedMatching +Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref icd11:3A61 semapv:UnspecifiedMatching +Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS:C1306589 semapv:UnspecifiedMatching +Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:98878 Hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:98878 Hemophilia A oboInOwl:hasDbXref MESH:D006467 semapv:UnspecifiedMatching Orphanet:98878 Hemophilia A oboInOwl:hasDbXref MedDRA:10010468 semapv:UnspecifiedMatching @@ -36833,6 +42952,7 @@ Orphanet:98878 Hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMat Orphanet:98878 Hemophilia A oboInOwl:hasDbXref UMLS:C0019069 semapv:UnspecifiedMatching Orphanet:98878 Hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching Orphanet:98879 Hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching Orphanet:98879 Hemophilia B oboInOwl:hasDbXref MESH:D002836 semapv:UnspecifiedMatching Orphanet:98879 Hemophilia B oboInOwl:hasDbXref MedDRA:10010467 semapv:UnspecifiedMatching Orphanet:98879 Hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching @@ -36842,17 +42962,21 @@ Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:Un Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref UMLS:C2584774 semapv:UnspecifiedMatching +Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref icd11:3B14.0 semapv:UnspecifiedMatching Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref UMLS:C5681639 semapv:UnspecifiedMatching +Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref icd11:3B14.0 semapv:UnspecifiedMatching Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref UMLS:C3280114 semapv:UnspecifiedMatching +Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:98888 X-linked complex spastic paraplegia oboInOwl:hasDbXref UMLS:C5680316 semapv:UnspecifiedMatching Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -36878,24 +43002,32 @@ Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:61720 Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:618185 semapv:UnspecifiedMatching Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:618918 semapv:UnspecifiedMatching Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1868720 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref icd11:LA05.5Y semapv:UnspecifiedMatching +Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref MESH:C565748 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:604801 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1858118 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref UMLS:C1837229 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref MedDRA:10059117 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:159050 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C0917713 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref icd11:8C70.0 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 semapv:UnspecifiedMatching Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MedDRA:10013801 semapv:UnspecifiedMatching Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref OMIM:310200 semapv:UnspecifiedMatching Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS:C0013264 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref icd11:8C70.1 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref MESH:C563508 semapv:UnspecifiedMatching Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:164310 semapv:UnspecifiedMatching @@ -36903,19 +43035,25 @@ Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:618940 semap Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:619473 semapv:UnspecifiedMatching Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:619790 semapv:UnspecifiedMatching Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref UMLS:C1834014 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref icd11:9C82.1 semapv:UnspecifiedMatching +Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref MESH:C535629 semapv:UnspecifiedMatching Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref OMIM:103300 semapv:UnspecifiedMatching Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref UMLS:C0595985 semapv:UnspecifiedMatching Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref icd11:LD25.0Y semapv:UnspecifiedMatching Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref OMIM:605355 semapv:UnspecifiedMatching Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref UMLS:C1854380 semapv:UnspecifiedMatching +Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref icd11:8C72.00 semapv:UnspecifiedMatching +Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref UMLS:C3711389 semapv:UnspecifiedMatching Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref MESH:C564969 semapv:UnspecifiedMatching Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850674 semapv:UnspecifiedMatching @@ -36942,12 +43080,14 @@ Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:Unspe Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref UMLS:C4707358 semapv:UnspecifiedMatching +Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref icd11:8C76 semapv:UnspecifiedMatching Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref MESH:C563718 semapv:UnspecifiedMatching Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref OMIM:609452 semapv:UnspecifiedMatching Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref UMLS:C1836155 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:254300 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:601462 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:605809 semapv:UnspecifiedMatching @@ -36965,6 +43105,8 @@ Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref O Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref icd11:8C61 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:254210 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching @@ -36977,22 +43119,29 @@ Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OM Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618198 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618323 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref UMLS:C0751884 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref icd11:8C61 semapv:UnspecifiedMatching +Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:603034 semapv:UnspecifiedMatching Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref UMLS:C5681640 semapv:UnspecifiedMatching +Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref icd11:8C61 semapv:UnspecifiedMatching +Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref OMIM:139393 semapv:UnspecifiedMatching Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C4551910 semapv:UnspecifiedMatching Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref MedDRA:10076657 semapv:UnspecifiedMatching Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref UMLS:C3900111 semapv:UnspecifiedMatching Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref MedDRA:10076658 semapv:UnspecifiedMatching Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref UMLS:C3890941 semapv:UnspecifiedMatching Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 semapv:UnspecifiedMatching Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref MedDRA:10049567 semapv:UnspecifiedMatching Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref UMLS:C0393799 semapv:UnspecifiedMatching @@ -37002,15 +43151,21 @@ Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref MESH:C536880 semapv:UnspecifiedMatching Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref UMLS:C1858517 semapv:UnspecifiedMatching +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref icd11:8B61.0 semapv:UnspecifiedMatching +Orphanet:98922 Blake pouch cyst oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:98922 Blake pouch cyst oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:98922 Blake pouch cyst oboInOwl:hasDbXref UMLS:C3662124 semapv:UnspecifiedMatching Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref UMLS:C5554235 semapv:UnspecifiedMatching +Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref icd11:8D87.01 semapv:UnspecifiedMatching +Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref MESH:C564708 semapv:UnspecifiedMatching Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref OMIM:606438 semapv:UnspecifiedMatching Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref UMLS:C1847987 semapv:UnspecifiedMatching +Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref icd11:8A01.11 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:251505 semapv:UnspecifiedMatching Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:300345 semapv:UnspecifiedMatching @@ -37023,12 +43178,17 @@ Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:614497 semapv Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:615145 semapv:UnspecifiedMatching Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:616428 semapv:UnspecifiedMatching Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref UMLS:C4255043 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref icd11:LA10.0 semapv:UnspecifiedMatching Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref UMLS:C4708599 semapv:UnspecifiedMatching +Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref icd11:LA13.1 semapv:UnspecifiedMatching +Orphanet:98943 Coloboma of eye lens oboInOwl:hasDbXref ICD10:Q12.2 semapv:UnspecifiedMatching Orphanet:98943 Coloboma of eye lens oboInOwl:hasDbXref ICD10:Q12.2 semapv:UnspecifiedMatching Orphanet:98943 Coloboma of eye lens oboInOwl:hasDbXref UMLS:C0344516 semapv:UnspecifiedMatching +Orphanet:98943 Coloboma of eye lens oboInOwl:hasDbXref icd11:LA12.0 semapv:UnspecifiedMatching +Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref ICD10:Q13.0 semapv:UnspecifiedMatching Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref ICD10:Q13.0 semapv:UnspecifiedMatching Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref MedDRA:10052642 semapv:UnspecifiedMatching Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching @@ -37041,18 +43201,30 @@ Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref OMIM:120300 semapv:Unspecif Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref UMLS:C1852767 semapv:UnspecifiedMatching Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref icd11:LA13.2 semapv:UnspecifiedMatching Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref UMLS:C0521573 semapv:UnspecifiedMatching +Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref icd11:LA14.00 semapv:UnspecifiedMatching +Orphanet:98947 Coloboma of optic disc oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:98947 Coloboma of optic disc oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching Orphanet:98947 Coloboma of optic disc oboInOwl:hasDbXref UMLS:C0155299 semapv:UnspecifiedMatching +Orphanet:98947 Coloboma of optic disc oboInOwl:hasDbXref icd11:LA13.76 semapv:UnspecifiedMatching +Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref UMLS:C0152454 semapv:UnspecifiedMatching +Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching +Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching +Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching +Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref UMLS:C5681641 semapv:UnspecifiedMatching +Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref UMLS:C5548210 semapv:UnspecifiedMatching +Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref icd11:9A03.00 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref MESH:D053559 semapv:UnspecifiedMatching Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:122100 semapv:UnspecifiedMatching @@ -37060,87 +43232,105 @@ Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:618767 semapv: Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS:C0339277 semapv:UnspecifiedMatching Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref MESH:C567588 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:300778 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749050 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref MESH:C535477 semapv:UnspecifiedMatching Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref OMIM:121820 semapv:UnspecifiedMatching Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref UMLS:C0521723 semapv:UnspecifiedMatching Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS:C0339273 semapv:UnspecifiedMatching Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching +Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref UMLS:C0339300 semapv:UnspecifiedMatching Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref MESH:C567547 semapv:UnspecifiedMatching Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 semapv:UnspecifiedMatching Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748503 semapv:UnspecifiedMatching Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 semapv:UnspecifiedMatching Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 semapv:UnspecifiedMatching Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS:C1562894 semapv:UnspecifiedMatching Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 semapv:UnspecifiedMatching Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 semapv:UnspecifiedMatching Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref UMLS:C0339278 semapv:UnspecifiedMatching Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref MESH:C537304 semapv:UnspecifiedMatching Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref OMIM:121900 semapv:UnspecifiedMatching Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1641846 semapv:UnspecifiedMatching Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref MESH:C535474 semapv:UnspecifiedMatching Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref OMIM:607541 semapv:UnspecifiedMatching Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref UMLS:C1275685 semapv:UnspecifiedMatching Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref MESH:C537881 semapv:UnspecifiedMatching Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:122200 semapv:UnspecifiedMatching Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:608471 semapv:UnspecifiedMatching Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1690006 semapv:UnspecifiedMatching Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98968 Central discoid corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98968 Central discoid corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref MedDRA:10025406 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref UMLS:C0024439 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref MESH:C563256 semapv:UnspecifiedMatching Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 semapv:UnspecifiedMatching Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS:C1562113 semapv:UnspecifiedMatching Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref MESH:C567546 semapv:UnspecifiedMatching Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref OMIM:612868 semapv:UnspecifiedMatching Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748502 semapv:UnspecifiedMatching Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref MESH:C563262 semapv:UnspecifiedMatching Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref OMIM:217600 semapv:UnspecifiedMatching Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref UMLS:C1622427 semapv:UnspecifiedMatching Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609140 semapv:UnspecifiedMatching Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609141 semapv:UnspecifiedMatching Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:618031 semapv:UnspecifiedMatching Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C0339284 semapv:UnspecifiedMatching Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref icd11:LA11.5 semapv:UnspecifiedMatching Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref MESH:D005642 semapv:UnspecifiedMatching Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:136800 semapv:UnspecifiedMatching Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:610158 semapv:UnspecifiedMatching @@ -37151,17 +43341,22 @@ Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:61327 Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613271 semapv:UnspecifiedMatching Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:615523 semapv:UnspecifiedMatching Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C0016781 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref icd11:9A70.0 semapv:UnspecifiedMatching +Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref OMIM:122000 semapv:UnspecifiedMatching Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref UMLS:C1562945 semapv:UnspecifiedMatching Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref icd11:LA11.5 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:600975 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613085 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613086 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:617272 semapv:UnspecifiedMatching Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref UMLS:C0020302 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref icd11:9C61.40 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref MedDRA:10064032 semapv:UnspecifiedMatching Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching @@ -37171,11 +43366,14 @@ Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608696 semapv:Unspecifi Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedMatching Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref UMLS:C2981140 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref icd11:9C61.41 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref MedDRA:10058653 semapv:UnspecifiedMatching Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref UMLS:C0266548 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref icd11:LA11.2 semapv:UnspecifiedMatching Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref MedDRA:10057487 semapv:UnspecifiedMatching @@ -37188,28 +43386,40 @@ Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref UMLS:C1168173 semapv:Unsp Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref icd11:LA11.Y semapv:UnspecifiedMatching Orphanet:98981 Essential iris atrophy oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching Orphanet:98981 Essential iris atrophy oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98981 Essential iris atrophy oboInOwl:hasDbXref icd11:9A90.2 semapv:UnspecifiedMatching +Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref MESH:C563426 semapv:UnspecifiedMatching Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref UMLS:C1833118 semapv:UnspecifiedMatching +Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref MESH:C565301 semapv:UnspecifiedMatching Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref UMLS:C1854021 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref MESH:C538282 semapv:UnspecifiedMatching Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref UMLS:C1855179 semapv:UnspecifiedMatching +Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref MESH:C537955 semapv:UnspecifiedMatching Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref UMLS:C0344523 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref UMLS:C1392104 semapv:UnspecifiedMatching +Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching @@ -37218,6 +43428,8 @@ Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:609376 semap Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref UMLS:C5681644 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching @@ -37231,17 +43443,23 @@ Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:610019 semap Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref UMLS:C5681643 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:619593 semapv:UnspecifiedMatching Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref UMLS:C0858617 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref MESH:C535341 semapv:UnspecifiedMatching Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:618415 semapv:UnspecifiedMatching Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref UMLS:C0266539 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref MESH:C535342 semapv:UnspecifiedMatching Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching @@ -37251,6 +43469,7 @@ Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:609376 semap Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref UMLS:C5681642 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching Orphanet:99 Autosomal dominant cerebellar ataxia oboInOwl:hasDbXref UMLS:C4087347 semapv:UnspecifiedMatching Orphanet:99 Autosomal dominant cerebellar ataxia oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -37264,12 +43483,14 @@ Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616151 semapv:UnspecifiedMatching Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616152 semapv:UnspecifiedMatching Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref UMLS:C1842914 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:169150 semapv:UnspecifiedMatching Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:608970 semapv:UnspecifiedMatching Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref UMLS:C4511237 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref MESH:C566721 semapv:UnspecifiedMatching @@ -37277,35 +43498,45 @@ Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:ha Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:267800 semapv:UnspecifiedMatching Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:617175 semapv:UnspecifiedMatching Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref UMLS:C1867332 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref UMLS:C4509881 semapv:UnspecifiedMatching +Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref UMLS:C4749286 semapv:UnspecifiedMatching +Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref MESH:C580457 semapv:UnspecifiedMatching Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref OMIM:607259 semapv:UnspecifiedMatching Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref UMLS:C3711370 semapv:UnspecifiedMatching +Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref OMIM:311070 semapv:UnspecifiedMatching Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref UMLS:C1839566 semapv:UnspecifiedMatching +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref MESH:C536857 semapv:UnspecifiedMatching Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref OMIM:312920 semapv:UnspecifiedMatching Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref UMLS:C1839264 semapv:UnspecifiedMatching +Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref MESH:C566813 semapv:UnspecifiedMatching Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref OMIM:169500 semapv:UnspecifiedMatching Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref UMLS:C1868512 semapv:UnspecifiedMatching Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref icd11:8A44.1 semapv:UnspecifiedMatching Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation oboInOwl:hasDbXref UMLS:C5680321 semapv:UnspecifiedMatching Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching +Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref UMLS:C1956411 semapv:UnspecifiedMatching @@ -37320,6 +43551,7 @@ Orphanet:99047 Double outlet right ventricle with doubly committed ventricular s Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C0344644 semapv:UnspecifiedMatching Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching +Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref UMLS:C5191313 semapv:UnspecifiedMatching Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching @@ -37328,12 +43560,19 @@ Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta oboInOwl:hasDbXref UMLS:C5680322 semapv:UnspecifiedMatching Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching +Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref UMLS:C5681646 semapv:UnspecifiedMatching +Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref icd11:LA8A.5 semapv:UnspecifiedMatching +Orphanet:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref UMLS:C5681645 semapv:UnspecifiedMatching +Orphanet:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref icd11:LA8A.5 semapv:UnspecifiedMatching +Orphanet:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref UMLS:C5681647 semapv:UnspecifiedMatching +Orphanet:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref icd11:LA8A.Y semapv:UnspecifiedMatching +Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MedDRA:10037450 semapv:UnspecifiedMatching @@ -37345,17 +43584,26 @@ Orphanet:99056 Parachute tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:U Orphanet:99056 Parachute tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching Orphanet:99056 Parachute tricuspid valve oboInOwl:hasDbXref UMLS:C0344755 semapv:UnspecifiedMatching Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching +Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref UMLS:C0158618 semapv:UnspecifiedMatching Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref icd11:LA87.11 semapv:UnspecifiedMatching Orphanet:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching +Orphanet:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching Orphanet:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref UMLS:C3165203 semapv:UnspecifiedMatching +Orphanet:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref icd11:LA87.1Y semapv:UnspecifiedMatching +Orphanet:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching Orphanet:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching Orphanet:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref UMLS:C5681648 semapv:UnspecifiedMatching +Orphanet:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref icd11:LA87.1Y semapv:UnspecifiedMatching +Orphanet:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching Orphanet:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching Orphanet:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref UMLS:C0344769 semapv:UnspecifiedMatching +Orphanet:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref icd11:LA87.1Y semapv:UnspecifiedMatching Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref UMLS:C5681649 semapv:UnspecifiedMatching +Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref icd11:LA87.1Y semapv:UnspecifiedMatching +Orphanet:99062 Mitral valve agenesis oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching Orphanet:99062 Mitral valve agenesis oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching Orphanet:99062 Mitral valve agenesis oboInOwl:hasDbXref UMLS:C0685721 semapv:UnspecifiedMatching Orphanet:99063 Shone complex oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching @@ -37366,44 +43614,58 @@ Orphanet:99063 Shone complex oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedM Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref UMLS:C5681625 semapv:UnspecifiedMatching +Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref icd11:LA87.1Y semapv:UnspecifiedMatching +Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680290 semapv:UnspecifiedMatching Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref icd11:LA87.45 semapv:UnspecifiedMatching Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref UMLS:C0345055 semapv:UnspecifiedMatching +Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref icd11:LA8A.Y semapv:UnspecifiedMatching +Orphanet:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref UMLS:C0345054 semapv:UnspecifiedMatching +Orphanet:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref icd11:LA8A.Y semapv:UnspecifiedMatching Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref UMLS:C4706391 semapv:UnspecifiedMatching +Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref icd11:LA8B.Y semapv:UnspecifiedMatching Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref UMLS:C4706940 semapv:UnspecifiedMatching +Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref icd11:LA8B.Y semapv:UnspecifiedMatching Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref UMLS:C0345066 semapv:UnspecifiedMatching +Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref UMLS:C0265885 semapv:UnspecifiedMatching +Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref UMLS:C4707820 semapv:UnspecifiedMatching Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref UMLS:C0345065 semapv:UnspecifiedMatching +Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99081 Right aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99081 Right aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99081 Right aortic arch oboInOwl:hasDbXref MedDRA:10067407 semapv:UnspecifiedMatching Orphanet:99081 Right aortic arch oboInOwl:hasDbXref UMLS:C0035615 semapv:UnspecifiedMatching +Orphanet:99081 Right aortic arch oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref UMLS:C0267073 semapv:UnspecifiedMatching Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref UMLS:C0265910 semapv:UnspecifiedMatching +Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref icd11:LA8B.1 semapv:UnspecifiedMatching Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref UMLS:C3531782 semapv:UnspecifiedMatching @@ -37429,43 +43691,63 @@ Orphanet:99095 Congenital Gerbode defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:U Orphanet:99095 Congenital Gerbode defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching Orphanet:99095 Congenital Gerbode defect oboInOwl:hasDbXref UMLS:C0344947 semapv:UnspecifiedMatching Orphanet:99098 Cor triatriatum dexter oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching +Orphanet:99098 Cor triatriatum dexter oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching Orphanet:99098 Cor triatriatum dexter oboInOwl:hasDbXref UMLS:C0344697 semapv:UnspecifiedMatching +Orphanet:99098 Cor triatriatum dexter oboInOwl:hasDbXref icd11:LA8F semapv:UnspecifiedMatching +Orphanet:99099 Cor triatriatum sinister oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching Orphanet:99099 Cor triatriatum sinister oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching Orphanet:99099 Cor triatriatum sinister oboInOwl:hasDbXref UMLS:C0344712 semapv:UnspecifiedMatching +Orphanet:99099 Cor triatriatum sinister oboInOwl:hasDbXref icd11:LA8G.0 semapv:UnspecifiedMatching Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref OMIM:202660 semapv:UnspecifiedMatching Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref UMLS:C1859967 semapv:UnspecifiedMatching Orphanet:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref UMLS:C1290478 semapv:UnspecifiedMatching +Orphanet:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref icd11:LA8F semapv:UnspecifiedMatching +Orphanet:99101 Ectasia of the right atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99101 Ectasia of the right atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99101 Ectasia of the right atrial appendage oboInOwl:hasDbXref UMLS:C4749283 semapv:UnspecifiedMatching Orphanet:99102 Ectasia of the left atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99102 Ectasia of the left atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99102 Ectasia of the left atrial appendage oboInOwl:hasDbXref UMLS:C4749282 semapv:UnspecifiedMatching Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref MedDRA:10031303 semapv:UnspecifiedMatching Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref UMLS:C0344724 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref icd11:LA8E.1 semapv:UnspecifiedMatching +Orphanet:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref UMLS:C0344733 semapv:UnspecifiedMatching +Orphanet:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref icd11:LA8E.3 semapv:UnspecifiedMatching +Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref MESH:C548009 semapv:UnspecifiedMatching Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref UMLS:C0344730 semapv:UnspecifiedMatching +Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref icd11:LA8E.2 semapv:UnspecifiedMatching +Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref MESH:C548006 semapv:UnspecifiedMatching Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref UMLS:C5680294 semapv:UnspecifiedMatching +Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref icd11:LA87.40 semapv:UnspecifiedMatching +Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref UMLS:C0521533 semapv:UnspecifiedMatching Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref icd11:LA8E.Y semapv:UnspecifiedMatching Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref UMLS:C5680293 semapv:UnspecifiedMatching Orphanet:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref UMLS:C0344658 semapv:UnspecifiedMatching Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching +Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium oboInOwl:hasDbXref UMLS:C5680292 semapv:UnspecifiedMatching Orphanet:99112 Absence of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:99112 Absence of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching @@ -37478,9 +43760,11 @@ Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref ICD10:Q26.8 Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref UMLS:C0265929 semapv:UnspecifiedMatching Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref UMLS:C0344684 semapv:UnspecifiedMatching Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref UMLS:C0344683 semapv:UnspecifiedMatching Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:99119 Right inferior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching @@ -37494,6 +43778,7 @@ Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref UMLS:C1859772 semapv:UnspecifiedMatching Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.0 semapv:UnspecifiedMatching +Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.0 semapv:UnspecifiedMatching Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref UMLS:C0265934 semapv:UnspecifiedMatching Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:99123 Inferior vena cava interruption without azygos continuation oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching @@ -37504,6 +43789,7 @@ Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDb Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C0158634 semapv:UnspecifiedMatching Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref icd11:LA86.21 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.2 semapv:UnspecifiedMatching +Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.2 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C5681626 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref icd11:LA86.20 semapv:UnspecifiedMatching @@ -37521,15 +43807,18 @@ Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref ICD10:Q24.8 semapv:Uns Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref UMLS:C5681627 semapv:UnspecifiedMatching Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref icd11:LA8D semapv:UnspecifiedMatching Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:619199 semapv:UnspecifiedMatching Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5543091 semapv:UnspecifiedMatching Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching +Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref UMLS:C0340960 semapv:UnspecifiedMatching Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref icd11:3A10.1 semapv:UnspecifiedMatching Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref UMLS:C0272006 semapv:UnspecifiedMatching +Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref icd11:3A51.Y semapv:UnspecifiedMatching Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref OMIM:613611 semapv:UnspecifiedMatching @@ -37540,26 +43829,33 @@ Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 s Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref MedDRA:10069495 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS:C0272362 semapv:UnspecifiedMatching +Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99169 Epiblepharon oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref MedDRA:10056531 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref UMLS:C0344503 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching Orphanet:99170 Tarsal kink syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99170 Tarsal kink syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:99170 Tarsal kink syndrome oboInOwl:hasDbXref UMLS:C5681629 semapv:UnspecifiedMatching Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching +Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref UMLS:C5681630 semapv:UnspecifiedMatching Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching Orphanet:99172 Euryblepharon oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching +Orphanet:99172 Euryblepharon oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching Orphanet:99172 Euryblepharon oboInOwl:hasDbXref UMLS:C1303001 semapv:UnspecifiedMatching Orphanet:99172 Euryblepharon oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref UMLS:C4274470 semapv:UnspecifiedMatching Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref icd11:LA14.05 semapv:UnspecifiedMatching Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref MedDRA:10066128 semapv:UnspecifiedMatching Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref OMIM:126300 semapv:UnspecifiedMatching Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref UMLS:C0423848 semapv:UnspecifiedMatching @@ -37569,9 +43865,13 @@ Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref ICD10:H35.5 semapv:Unspec Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref MESH:C562701 semapv:UnspecifiedMatching Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref OMIM:228990 semapv:UnspecifiedMatching Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref UMLS:C0271257 semapv:UnspecifiedMatching +Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:99226 Monosomy X oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching Orphanet:99226 Monosomy X oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching Orphanet:99226 Monosomy X oboInOwl:hasDbXref icd11:LD50.00 semapv:UnspecifiedMatching Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref UMLS:C5681628 semapv:UnspecifiedMatching Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref icd11:LD50.03 semapv:UnspecifiedMatching @@ -37626,6 +43926,7 @@ Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXr Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref UMLS:C3150545 semapv:UnspecifiedMatching Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1300227 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching @@ -37657,6 +43958,7 @@ Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.5 Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.7 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.7 semapv:UnspecifiedMatching Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching @@ -37667,13 +43969,16 @@ Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref UMLS:C0795919 semapv:Uns Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref UMLS:C4749367 semapv:UnspecifiedMatching Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref UMLS:C3151303 semapv:UnspecifiedMatching Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref UMLS:C5681635 semapv:UnspecifiedMatching Orphanet:99715 MASS syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:99715 MASS syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:99715 MASS syndrome oboInOwl:hasDbXref MESH:C536030 semapv:UnspecifiedMatching Orphanet:99715 MASS syndrome oboInOwl:hasDbXref OMIM:604308 semapv:UnspecifiedMatching Orphanet:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching @@ -37681,44 +43986,60 @@ Orphanet:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 semapv:Unspecif Orphanet:99718 Leber plus disease oboInOwl:hasDbXref OMIM:165200 semapv:UnspecifiedMatching Orphanet:99718 Leber plus disease oboInOwl:hasDbXref OMIM:500001 semapv:UnspecifiedMatching Orphanet:99718 Leber plus disease oboInOwl:hasDbXref UMLS:C4304725 semapv:UnspecifiedMatching +Orphanet:99718 Leber plus disease oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref MESH:D005877 semapv:UnspecifiedMatching Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref MedDRA:10018265 semapv:UnspecifiedMatching Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref UMLS:C0017547 semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref icd11:5A60.0 semapv:UnspecifiedMatching +Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref MESH:C538141 semapv:UnspecifiedMatching Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref MESH:C535811 semapv:UnspecifiedMatching Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref UMLS:C0752355 semapv:UnspecifiedMatching +Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching +Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching +Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching +Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref UMLS:C4275008 semapv:UnspecifiedMatching +Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D024741 semapv:UnspecifiedMatching Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680311 semapv:UnspecifiedMatching Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref MESH:C536883 semapv:UnspecifiedMatching Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref OMIM:619542 semapv:UnspecifiedMatching Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref UMLS:C1840365 semapv:UnspecifiedMatching Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref MESH:C538247 semapv:UnspecifiedMatching Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref OMIM:607196 semapv:UnspecifiedMatching Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref UMLS:C1846648 semapv:UnspecifiedMatching Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref icd11:LA05.0 semapv:UnspecifiedMatching Orphanet:99745 Typhoid oboInOwl:hasDbXref ICD10:A01.0 semapv:UnspecifiedMatching +Orphanet:99745 Typhoid oboInOwl:hasDbXref ICD10:A01.0 semapv:UnspecifiedMatching Orphanet:99745 Typhoid oboInOwl:hasDbXref MESH:D014435 semapv:UnspecifiedMatching Orphanet:99745 Typhoid oboInOwl:hasDbXref UMLS:C0041466 semapv:UnspecifiedMatching +Orphanet:99745 Typhoid oboInOwl:hasDbXref icd11:1A07 semapv:UnspecifiedMatching +Orphanet:99748 Pontiac fever oboInOwl:hasDbXref ICD10:A48.2 semapv:UnspecifiedMatching Orphanet:99748 Pontiac fever oboInOwl:hasDbXref ICD10:A48.2 semapv:UnspecifiedMatching Orphanet:99748 Pontiac fever oboInOwl:hasDbXref MedDRA:10054161 semapv:UnspecifiedMatching Orphanet:99748 Pontiac fever oboInOwl:hasDbXref UMLS:C0343528 semapv:UnspecifiedMatching @@ -37734,11 +44055,16 @@ Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXr Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref MESH:C537240 semapv:UnspecifiedMatching Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref UMLS:C5548371 semapv:UnspecifiedMatching +Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10065867 semapv:UnspecifiedMatching Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206655 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55.1 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref icd11:XH7099 semapv:UnspecifiedMatching +Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018233 semapv:UnspecifiedMatching Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10065868 semapv:UnspecifiedMatching @@ -37747,10 +44073,13 @@ Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206656 semap Orphanet:99771 Bifid uvula oboInOwl:hasDbXref ICD10:Q35.7 semapv:UnspecifiedMatching Orphanet:99771 Bifid uvula oboInOwl:hasDbXref ICD10:Q35.7 semapv:UnspecifiedMatching Orphanet:99771 Bifid uvula oboInOwl:hasDbXref UMLS:C4551488 semapv:UnspecifiedMatching +Orphanet:99771 Bifid uvula oboInOwl:hasDbXref icd11:LA42.2 semapv:UnspecifiedMatching +Orphanet:99772 Cleft velum oboInOwl:hasDbXref ICD10:Q35.3 semapv:UnspecifiedMatching Orphanet:99772 Cleft velum oboInOwl:hasDbXref ICD10:Q35.3 semapv:UnspecifiedMatching Orphanet:99772 Cleft velum oboInOwl:hasDbXref MESH:C562950 semapv:UnspecifiedMatching Orphanet:99772 Cleft velum oboInOwl:hasDbXref OMIM:119570 semapv:UnspecifiedMatching Orphanet:99772 Cleft velum oboInOwl:hasDbXref UMLS:C0432098 semapv:UnspecifiedMatching +Orphanet:99772 Cleft velum oboInOwl:hasDbXref icd11:LA42.1 semapv:UnspecifiedMatching Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref MESH:C535454 semapv:UnspecifiedMatching @@ -37780,12 +44109,14 @@ Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:300067 semap Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:600348 semapv:UnspecifiedMatching Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref UMLS:C1848201 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:99797 Anodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching Orphanet:99797 Anodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching Orphanet:99797 Anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching Orphanet:99797 Anodontia oboInOwl:hasDbXref MedDRA:10002583 semapv:UnspecifiedMatching Orphanet:99797 Anodontia oboInOwl:hasDbXref OMIM:206780 semapv:UnspecifiedMatching Orphanet:99797 Anodontia oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref icd11:LA30.0 semapv:UnspecifiedMatching Orphanet:99798 Oligodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching Orphanet:99798 Oligodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching Orphanet:99798 Oligodontia oboInOwl:hasDbXref MedDRA:10088239 semapv:UnspecifiedMatching @@ -37798,10 +44129,13 @@ Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:616724 semapv:UnspecifiedMatc Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:617073 semapv:UnspecifiedMatching Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:620173 semapv:UnspecifiedMatching Orphanet:99798 Oligodontia oboInOwl:hasDbXref UMLS:C4082304 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref icd11:LA30.2 semapv:UnspecifiedMatching +Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref MESH:C537042 semapv:UnspecifiedMatching Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref OMIM:300700 semapv:UnspecifiedMatching Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref UMLS:C1845068 semapv:UnspecifiedMatching +Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref MESH:D065705 semapv:UnspecifiedMatching @@ -37817,6 +44151,7 @@ Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref ICD10:K07.8 semapv:Uns Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:UnspecifiedMatching Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref UMLS:C2750325 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:617507 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref UMLS:C1850056 semapv:UnspecifiedMatching @@ -37828,34 +44163,44 @@ Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:614483 semapv:Unspe Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref UMLS:C1867983 semapv:UnspecifiedMatching Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref icd11:LA05.60 semapv:UnspecifiedMatching Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref MESH:C537394 semapv:UnspecifiedMatching Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:243185 semapv:UnspecifiedMatching Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C1855733 semapv:UnspecifiedMatching +Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref icd11:DA90.2 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref MESH:C564694 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref OMIM:606593 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref UMLS:C1847827 semapv:UnspecifiedMatching +Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:99817 Non-polyposis Turcot syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching Orphanet:99817 Non-polyposis Turcot syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref UMLS:C5681818 semapv:UnspecifiedMatching +Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:O99.2 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:O99.2 semapv:UnspecifiedMatching Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref MESH:C566384 semapv:UnspecifiedMatching Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref OMIM:603373 semapv:UnspecifiedMatching Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref UMLS:C1863959 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref icd11:5A02.Y semapv:UnspecifiedMatching Orphanet:99824 Lassa fever oboInOwl:hasDbXref ICD10:A96.2 semapv:UnspecifiedMatching Orphanet:99824 Lassa fever oboInOwl:hasDbXref ICD10:A96.2 semapv:UnspecifiedMatching Orphanet:99824 Lassa fever oboInOwl:hasDbXref MESH:D007835 semapv:UnspecifiedMatching Orphanet:99824 Lassa fever oboInOwl:hasDbXref MedDRA:10023927 semapv:UnspecifiedMatching Orphanet:99824 Lassa fever oboInOwl:hasDbXref UMLS:C0023092 semapv:UnspecifiedMatching +Orphanet:99824 Lassa fever oboInOwl:hasDbXref icd11:1D61.2 semapv:UnspecifiedMatching Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref ICD10:A98.8 semapv:UnspecifiedMatching Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref ICD10:A98.8 semapv:UnspecifiedMatching Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref UMLS:C1320202 semapv:UnspecifiedMatching Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref icd11:1D63 semapv:UnspecifiedMatching Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.3 semapv:UnspecifiedMatching +Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.3 semapv:UnspecifiedMatching Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref MESH:D008379 semapv:UnspecifiedMatching Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref MedDRA:10026822 semapv:UnspecifiedMatching Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS:C0024788 semapv:UnspecifiedMatching @@ -37864,11 +44209,13 @@ Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.0 se Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.0 semapv:UnspecifiedMatching Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref MESH:D006479 semapv:UnspecifiedMatching Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019099 semapv:UnspecifiedMatching +Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref icd11:1D49 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.0 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.0 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.1 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.1 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.2 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.2 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.9 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.9 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref MESH:D003715 semapv:UnspecifiedMatching @@ -37876,18 +44223,23 @@ Orphanet:99828 Dengue fever oboInOwl:hasDbXref MedDRA:10012310 semapv:Unspecifie Orphanet:99828 Dengue fever oboInOwl:hasDbXref OMIM:614371 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref UMLS:C0011311 semapv:UnspecifiedMatching Orphanet:99828 Dengue fever oboInOwl:hasDbXref icd11:1D20 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref icd11:1D21 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref icd11:1D22 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.0 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.0 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.1 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.1 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.9 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.9 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref MESH:D015004 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref MedDRA:10048240 semapv:UnspecifiedMatching Orphanet:99829 Yellow fever oboInOwl:hasDbXref UMLS:C0043395 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref icd11:1D47 semapv:UnspecifiedMatching Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref OMIM:618573 semapv:UnspecifiedMatching Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref UMLS:C4511136 semapv:UnspecifiedMatching +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref icd11:5A00.01 semapv:UnspecifiedMatching Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref MESH:C535887 semapv:UnspecifiedMatching @@ -37911,24 +44263,30 @@ Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 se Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:268200 semapv:UnspecifiedMatching Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:550500 semapv:UnspecifiedMatching Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref UMLS:C4274324 semapv:UnspecifiedMatching +Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref icd11:5C5Y semapv:UnspecifiedMatching Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref MESH:C563546 semapv:UnspecifiedMatching Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref OMIM:160010 semapv:UnspecifiedMatching Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref UMLS:C1834567 semapv:UnspecifiedMatching +Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref icd11:5C5Y semapv:UnspecifiedMatching +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref OMIM:612932 semapv:UnspecifiedMatching Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref UMLS:C5566614 semapv:UnspecifiedMatching Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref UMLS:C4275006 semapv:UnspecifiedMatching Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref UMLS:C1847967 semapv:UnspecifiedMatching Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching @@ -37936,9 +44294,11 @@ Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:Unspe Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref UMLS:C1299627 semapv:UnspecifiedMatching Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref icd11:LA07.3 semapv:UnspecifiedMatching Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching +Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref UMLS:C4749399 semapv:UnspecifiedMatching Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref icd11:8D66.1 semapv:UnspecifiedMatching Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching +Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref UMLS:C4511700 semapv:UnspecifiedMatching Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref icd11:8D66.0 semapv:UnspecifiedMatching Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching @@ -37946,16 +44306,20 @@ Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MedDRA:10066109 semapv:UnspecifiedMatching Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:615545 semapv:UnspecifiedMatching Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0349636 semapv:UnspecifiedMatching +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref icd11:2A70 semapv:UnspecifiedMatching Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MESH:D054218 semapv:UnspecifiedMatching Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MedDRA:10066110 semapv:UnspecifiedMatching Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1961099 semapv:UnspecifiedMatching +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref icd11:2A71 semapv:UnspecifiedMatching Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref MedDRA:10073118 semapv:UnspecifiedMatching Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref UMLS:C0334517 semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref icd11:2C80.Y semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref icd11:XH80D1 semapv:UnspecifiedMatching Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D38.4 semapv:UnspecifiedMatching @@ -37966,10 +44330,15 @@ Orphanet:99867 Thymoma oboInOwl:hasDbXref OMIM:274230 semapv:UnspecifiedMatching Orphanet:99867 Thymoma oboInOwl:hasDbXref UMLS:C0040100 semapv:UnspecifiedMatching Orphanet:99867 Thymoma oboInOwl:hasDbXref icd11:2C27.Y semapv:UnspecifiedMatching Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref MedDRA:10061031 semapv:UnspecifiedMatching Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref UMLS:C0205969 semapv:UnspecifiedMatching +Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref icd11:2C27.0 semapv:UnspecifiedMatching +Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C2210965 semapv:UnspecifiedMatching +Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MESH:C564166 semapv:UnspecifiedMatching Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MedDRA:10080773 semapv:UnspecifiedMatching @@ -37979,9 +44348,12 @@ Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:610 Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:617343 semapv:UnspecifiedMatching Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:618883 semapv:UnspecifiedMatching Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref UMLS:C4551961 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref icd11:5A51.0 semapv:UnspecifiedMatching +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref UMLS:C1704981 semapv:UnspecifiedMatching +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref icd11:5A51.0 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching @@ -37989,6 +44361,7 @@ Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618857 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618858 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C5680384 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref icd11:KB60.2Y semapv:UnspecifiedMatching Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:601410 semapv:UnspecifiedMatching @@ -37998,10 +44371,14 @@ Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C034 Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref icd11:KB60.20 semapv:UnspecifiedMatching Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref icd11:2A60.41 semapv:UnspecifiedMatching +Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref UMLS:C0001231 semapv:UnspecifiedMatching +Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref icd11:5A70.1 semapv:UnspecifiedMatching +Orphanet:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching Orphanet:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching Orphanet:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref UMLS:C0342442 semapv:UnspecifiedMatching Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching @@ -38011,19 +44388,26 @@ Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complet Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref UMLS:C4011949 semapv:UnspecifiedMatching Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:999 Ermine phenotype oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:999 Ermine phenotype oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:999 Ermine phenotype oboInOwl:hasDbXref MESH:C535508 semapv:UnspecifiedMatching Orphanet:999 Ermine phenotype oboInOwl:hasDbXref OMIM:227010 semapv:UnspecifiedMatching Orphanet:999 Ermine phenotype oboInOwl:hasDbXref UMLS:C1856899 semapv:UnspecifiedMatching +Orphanet:999 Ermine phenotype oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535690 semapv:UnspecifiedMatching Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220711 semapv:UnspecifiedMatching Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref MESH:C567006 semapv:UnspecifiedMatching Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref MedDRA:10081518 semapv:UnspecifiedMatching Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref OMIM:611126 semapv:UnspecifiedMatching Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref UMLS:C1970173 semapv:UnspecifiedMatching Orphanet:99903 Spirillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching +Orphanet:99903 Spirillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching Orphanet:99903 Spirillary rat-bite fever oboInOwl:hasDbXref UMLS:C0152062 semapv:UnspecifiedMatching +Orphanet:99903 Spirillary rat-bite fever oboInOwl:hasDbXref icd11:1B90.0 semapv:UnspecifiedMatching +Orphanet:99905 Streptobacillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching Orphanet:99905 Streptobacillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching Orphanet:99905 Streptobacillary rat-bite fever oboInOwl:hasDbXref icd11:1B90.1 semapv:UnspecifiedMatching Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref ICD10:J67.0 semapv:UnspecifiedMatching @@ -38031,8 +44415,11 @@ Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref ICD10:J67.0 semapv:Unspe Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref MedDRA:10016221 semapv:UnspecifiedMatching Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref UMLS:C0015634 semapv:UnspecifiedMatching +Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref icd11:CA70.0 semapv:UnspecifiedMatching +Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref ICD10:J67.8 semapv:UnspecifiedMatching Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref ICD10:J67.8 semapv:UnspecifiedMatching Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref UMLS:C4511048 semapv:UnspecifiedMatching +Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref icd11:CA70.Y semapv:UnspecifiedMatching Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref ICD10:J67.2 semapv:UnspecifiedMatching Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref ICD10:J67.2 semapv:UnspecifiedMatching Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MESH:D001716 semapv:UnspecifiedMatching @@ -38042,53 +44429,71 @@ Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref UMLS:C0005592 sema Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref icd11:CA70.2 semapv:UnspecifiedMatching Orphanet:99909 Occupational allergic alveolitis oboInOwl:hasDbXref UMLS:C5681816 semapv:UnspecifiedMatching Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref UMLS:C0346185 semapv:UnspecifiedMatching Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref icd11:2C73.1 semapv:UnspecifiedMatching Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C5681817 semapv:UnspecifiedMatching Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref UMLS:C0018413 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref icd11:2F96 semapv:UnspecifiedMatching Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref icd11:XH0Q64 semapv:UnspecifiedMatching Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref MESH:D006106 semapv:UnspecifiedMatching Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0334401 semapv:UnspecifiedMatching Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref icd11:2C73.2 semapv:UnspecifiedMatching Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref UMLS:C5574973 semapv:UnspecifiedMatching +Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching +Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref UMLS:C4274494 semapv:UnspecifiedMatching +Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044251 semapv:UnspecifiedMatching Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref UMLS:C0343532 semapv:UnspecifiedMatching +Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref icd11:1C45.0 semapv:UnspecifiedMatching Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044250 semapv:UnspecifiedMatching Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref UMLS:C3714602 semapv:UnspecifiedMatching +Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref icd11:1C45.1 semapv:UnspecifiedMatching +Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref MedDRA:10066260 semapv:UnspecifiedMatching Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref UMLS:C0856825 semapv:UnspecifiedMatching +Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref icd11:4B24.0 semapv:UnspecifiedMatching +Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref MedDRA:10066261 semapv:UnspecifiedMatching Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref UMLS:C0867389 semapv:UnspecifiedMatching +Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref icd11:4B24.1 semapv:UnspecifiedMatching Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:H13.3* semapv:UnspecifiedMatching Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:H13.3* semapv:UnspecifiedMatching Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:L12+ semapv:UnspecifiedMatching Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:L12+ semapv:UnspecifiedMatching Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref MedDRA:10067776 semapv:UnspecifiedMatching Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C1282359 semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref icd11:9A62 semapv:UnspecifiedMatching Orphanet:99925 Invasive mole oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching Orphanet:99925 Invasive mole oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching Orphanet:99925 Invasive mole oboInOwl:hasDbXref MESH:D002820 semapv:UnspecifiedMatching Orphanet:99925 Invasive mole oboInOwl:hasDbXref UMLS:C0008493 semapv:UnspecifiedMatching +Orphanet:99925 Invasive mole oboInOwl:hasDbXref icd11:2F76 semapv:UnspecifiedMatching +Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C0349557 semapv:UnspecifiedMatching Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.9 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.9 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref MESH:D006828 semapv:UnspecifiedMatching @@ -38096,27 +44501,41 @@ Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref MedDRA:10020481 semapv:Unspe Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref UMLS:C0020217 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref icd11:JA02 semapv:UnspecifiedMatching Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref MESH:D018245 semapv:UnspecifiedMatching Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref UMLS:C0206666 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref icd11:2F31.2 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref icd11:2F76 semapv:UnspecifiedMatching Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref icd11:2F96 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref icd11:XH1RM5 semapv:UnspecifiedMatching Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C4274326 semapv:UnspecifiedMatching Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref icd11:CB05.5 semapv:UnspecifiedMatching Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 semapv:UnspecifiedMatching Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 semapv:UnspecifiedMatching Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C0020807 semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref icd11:CB04.30 semapv:UnspecifiedMatching Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref icd11:CB05.5 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching @@ -38124,7 +44543,10 @@ Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.9 se Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref UMLS:C5681813 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching @@ -38133,8 +44555,11 @@ Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.9 se Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref UMLS:C5681814 semapv:UnspecifiedMatching Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching @@ -38142,110 +44567,133 @@ Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.9 se Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref UMLS:C5681815 semapv:UnspecifiedMatching Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref MESH:C537989 semapv:UnspecifiedMatching Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref OMIM:600882 semapv:UnspecifiedMatching Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref UMLS:C1833219 semapv:UnspecifiedMatching Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref MESH:C565261 semapv:UnspecifiedMatching Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref OMIM:606071 semapv:UnspecifiedMatching Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref UMLS:C1853710 semapv:UnspecifiedMatching Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref MESH:C537993 semapv:UnspecifiedMatching Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref OMIM:601472 semapv:UnspecifiedMatching Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref UMLS:C1832274 semapv:UnspecifiedMatching Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref MESH:C537994 semapv:UnspecifiedMatching Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 semapv:UnspecifiedMatching Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref UMLS:C1843225 semapv:UnspecifiedMatching Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref MESH:C535413 semapv:UnspecifiedMatching Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref OMIM:606595 semapv:UnspecifiedMatching Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref UMLS:C1847823 semapv:UnspecifiedMatching Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref UMLS:C1837805 semapv:UnspecifiedMatching Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref MESH:C535416 semapv:UnspecifiedMatching Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref OMIM:607677 semapv:UnspecifiedMatching Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref UMLS:C3888087 semapv:UnspecifiedMatching Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref MESH:C535417 semapv:UnspecifiedMatching Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref OMIM:607736 semapv:UnspecifiedMatching Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref UMLS:C1843153 semapv:UnspecifiedMatching Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref MESH:C564325 semapv:UnspecifiedMatching Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref UMLS:C1842984 semapv:UnspecifiedMatching Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref OMIM:608673 semapv:UnspecifiedMatching Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref UMLS:C4304673 semapv:UnspecifiedMatching Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref MESH:C566138 semapv:UnspecifiedMatching Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref OMIM:118210 semapv:UnspecifiedMatching Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref UMLS:C1861678 semapv:UnspecifiedMatching Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref OMIM:609260 semapv:UnspecifiedMatching Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref UMLS:C4721887 semapv:UnspecifiedMatching Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MESH:C535419 semapv:UnspecifiedMatching Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 semapv:UnspecifiedMatching Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref UMLS:C1859198 semapv:UnspecifiedMatching Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref MESH:C535423 semapv:UnspecifiedMatching Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref OMIM:601596 semapv:UnspecifiedMatching Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref UMLS:C1866636 semapv:UnspecifiedMatching Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref MESH:C535716 semapv:UnspecifiedMatching Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref OMIM:601455 semapv:UnspecifiedMatching Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref UMLS:C1832334 semapv:UnspecifiedMatching Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref MESH:C535301 semapv:UnspecifiedMatching Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref OMIM:605253 semapv:UnspecifiedMatching Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref UMLS:C4721437 semapv:UnspecifiedMatching Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref OMIM:614895 semapv:UnspecifiedMatching Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref UMLS:C2608082 semapv:UnspecifiedMatching Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref MESH:C535813 semapv:UnspecifiedMatching Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref OMIM:605285 semapv:UnspecifiedMatching Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref UMLS:C1854449 semapv:UnspecifiedMatching Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref MESH:C563740 semapv:UnspecifiedMatching Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref OMIM:609311 semapv:UnspecifiedMatching Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref UMLS:C1836336 semapv:UnspecifiedMatching Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MESH:C535420 semapv:UnspecifiedMatching Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref OMIM:601382 semapv:UnspecifiedMatching Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref UMLS:C1832399 semapv:UnspecifiedMatching Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 semapv:UnspecifiedMatching Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 semapv:UnspecifiedMatching Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref UMLS:C1858278 semapv:UnspecifiedMatching Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref icd11:5C58.04 semapv:UnspecifiedMatching Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref UMLS:C2608083 semapv:UnspecifiedMatching Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref icd11:5C58.04 semapv:UnspecifiedMatching @@ -38254,19 +44702,25 @@ Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv: Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref MedDRA:10069682 semapv:UnspecifiedMatching Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref UMLS:C2721741 semapv:UnspecifiedMatching Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS:C1266184 semapv:UnspecifiedMatching +Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching +Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref UMLS:C0206634 semapv:UnspecifiedMatching Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref MedDRA:10073138 semapv:UnspecifiedMatching Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref UMLS:C0205825 semapv:UnspecifiedMatching Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref MedDRA:10073135 semapv:UnspecifiedMatching Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref UMLS:C0205824 semapv:UnspecifiedMatching Orphanet:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref UMLS:C1370889 semapv:UnspecifiedMatching Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching @@ -38278,6 +44732,7 @@ Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref OMIM:614266 se Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279628 semapv:UnspecifiedMatching Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref icd11:2B70.0 semapv:UnspecifiedMatching Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching @@ -38289,11 +44744,15 @@ Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref OMIM: Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279626 semapv:UnspecifiedMatching Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref icd11:2B70.1 semapv:UnspecifiedMatching Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref MESH:D018285 semapv:UnspecifiedMatching Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref UMLS:C0206702 semapv:UnspecifiedMatching +Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref icd11:2C18.0 semapv:UnspecifiedMatching Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref UMLS:C0475715 semapv:UnspecifiedMatching +Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref icd11:7A40.2 semapv:UnspecifiedMatching +Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref UMLS:C0027031 semapv:UnspecifiedMatching Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching @@ -38303,14 +44762,18 @@ Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref UMLS:C5680423 semap Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref UMLS:C0006181 semapv:UnspecifiedMatching +Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref icd11:1C30.1 semapv:UnspecifiedMatching Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref UMLS:C5681812 semapv:UnspecifiedMatching +Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref icd11:1C30.1 semapv:UnspecifiedMatching +Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref MedDRA:10064335 semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref UMLS:C0007462 semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref icd11:MG30.04 semapv:UnspecifiedMatching Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching +Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref MedDRA:10064334 semapv:UnspecifiedMatching Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref UMLS:C0034931 semapv:UnspecifiedMatching diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index bc18c4e5..7948dd13 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-02-04") +Annotation(owl:versionInfo "2024-02-09") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 2eb17e92..1c43e88d 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-02-04") +Annotation(owl:versionInfo "2024-02-09") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 920bc50d..b10f2a6e 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,8 +3,8 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 206 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 127 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 210 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 130 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 38 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 38 * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1933 @@ -19,33 +19,33 @@ * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 44 * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 26 * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 23 - * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 20 - * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 18 - * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 128 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 128 + * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 5 + * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 4 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 123 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 123 * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 28 * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 21 * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 903 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 903 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 120 + * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 14 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 110 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 75 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 132 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 68 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 929 - * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 8 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 14 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6008 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 91 * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 72 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1934 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6008 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 57 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 653 * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 242 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 246 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 1015 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 13 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 31 * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1217 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 24 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 6 + * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 6 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 7c539ba6..32dbd82d 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -1,832 +1,6 @@ subject_id predicate_id object_id subject_label object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID >A oboInOwl:source A oboInOwl:hasDbXref -MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty -MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata -MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis -MONDO:0000397 MONDO:equivalentTo ICD10WHO:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy -MONDO:0000495 MONDO:equivalentTo ICD10WHO:F91.3 oppositional defiant disorder Oppositional defiant disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oppositional defiant disorder -MONDO:0000665 MONDO:equivalentTo ICD10WHO:R48.2 apraxia Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia -MONDO:0000745 MONDO:equivalentTo ICD10WHO:I46 cardiac arrest Cardiac arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest -MONDO:0000754 MONDO:equivalentTo ICD10WHO:K60.3 anal fistula Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula -MONDO:0000755 MONDO:equivalentTo ICD10WHO:O00 ectopic pregnancy Ectopic pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic pregnancy -MONDO:0000819 MONDO:equivalentTo ICD10WHO:Q00.0 anencephaly Anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anencephaly -MONDO:0000859 MONDO:equivalentTo ICD10WHO:Q76.0 spina bifida occulta Spina bifida occulta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida occulta -MONDO:0000889 MONDO:equivalentTo ICD10WHO:G00.0 haemophilus meningitis Haemophilus meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haemophilus meningitis -MONDO:0000923 MONDO:equivalentTo ICD10WHO:J98.2 interstitial emphysema Interstitial emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial emphysema -MONDO:0000924 MONDO:equivalentTo ICD10WHO:J98.3 compensatory emphysema Compensatory emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label compensatory emphysema -MONDO:0000927 MONDO:equivalentTo ICD10WHO:A52.2 asymptomatic neurosyphilis Asymptomatic neurosyphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asymptomatic neurosyphilis -MONDO:0000983 MONDO:equivalentTo ICD10WHO:F65.2 exhibitionism Exhibitionism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exhibitionism -MONDO:0000986 MONDO:equivalentTo ICD10WHO:R09.1 pleurisy Pleurisy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleurisy -MONDO:0000987 MONDO:equivalentTo ICD10WHO:K82.4 cholesterolosis of gallbladder Cholesterolosis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterolosis of gallbladder -MONDO:0000990 MONDO:equivalentTo ICD10WHO:I21.4 acute subendocardial myocardial infarction Acute subendocardial myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute subendocardial myocardial infarction -MONDO:0001007 MONDO:equivalentTo ICD10WHO:G03.1 chronic meningitis Chronic meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic meningitis -MONDO:0001009 MONDO:equivalentTo ICD10WHO:N60.0 solitary cyst of breast Solitary cyst of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary cyst of breast -MONDO:0001024 MONDO:equivalentTo ICD10WHO:A20.2 pneumonic plague Pneumonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonic plague -MONDO:0001029 MONDO:equivalentTo ICD10WHO:Q76.1 Klippel-Feil syndrome Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil syndrome -MONDO:0001042 MONDO:equivalentTo ICD10WHO:M76.5 patellar tendinitis Patellar tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar tendinitis -MONDO:0001049 MONDO:equivalentTo ICD10WHO:I24.1 Dressler syndrome Dressler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dressler syndrome -MONDO:0001050 MONDO:equivalentTo ICD10WHO:H60.2 malignant otitis externa Malignant otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant otitis externa -MONDO:0001078 MONDO:equivalentTo ICD10WHO:K90.1 tropical sprue Tropical sprue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical sprue -MONDO:0001100 MONDO:equivalentTo ICD10WHO:N62 hypertrophy of breast Hypertrophy of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of breast -MONDO:0001101 MONDO:equivalentTo ICD10WHO:N64.1 fat necrosis of breast Fat necrosis of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fat necrosis of breast -MONDO:0001109 MONDO:equivalentTo ICD10WHO:H70.2 petrositis Petrositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label petrositis -MONDO:0001112 MONDO:equivalentTo ICD10WHO:A20.0 bubonic plague Bubonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bubonic plague -MONDO:0001120 MONDO:equivalentTo ICD10WHO:J32.1 chronic frontal sinusitis Chronic frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic frontal sinusitis -MONDO:0001122 MONDO:equivalentTo ICD10WHO:J32.0 chronic maxillary sinusitis Chronic maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic maxillary sinusitis -MONDO:0001123 MONDO:equivalentTo ICD10WHO:J32.3 chronic sphenoidal sinusitis Chronic sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic sphenoidal sinusitis -MONDO:0001126 MONDO:equivalentTo ICD10WHO:K25 gastric ulcer Gastric ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric ulcer -MONDO:0001135 MONDO:equivalentTo ICD10WHO:F65.3 voyeurism Voyeurism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label voyeurism -MONDO:0001143 MONDO:equivalentTo ICD10WHO:H49 paralytic strabismus Paralytic strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic strabismus -MONDO:0001149 MONDO:equivalentTo ICD10WHO:Q02 microcephaly Microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly -MONDO:0001150 MONDO:equivalentTo ICD10WHO:G91 hydrocephalus Hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus -MONDO:0001155 MONDO:equivalentTo ICD10WHO:K28 gastrojejunal ulcer Gastrojejunal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrojejunal ulcer -MONDO:0001157 MONDO:equivalentTo ICD10WHO:F60.7 dependent personality disorder Dependent personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dependent personality disorder -MONDO:0001161 MONDO:equivalentTo ICD10WHO:F60.1 schizoid personality disorder Schizoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizoid personality disorder -MONDO:0001163 MONDO:equivalentTo ICD10WHO:F60.0 paranoid personality disorder Paranoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid personality disorder -MONDO:0001168 MONDO:equivalentTo ICD10WHO:G81.1 spastic hemiplegia Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia -MONDO:0001170 MONDO:equivalentTo ICD10WHO:G81 hemiplegia Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia -MONDO:0001180 MONDO:equivalentTo ICD10WHO:H18.1 bullous keratopathy Bullous keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous keratopathy -MONDO:0001185 MONDO:equivalentTo ICD10WHO:F44.0 dissociative amnesia Dissociative amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissociative amnesia -MONDO:0001200 MONDO:equivalentTo ICD10WHO:I15 secondary hypertension Secondary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension -MONDO:0001208 MONDO:equivalentTo ICD10WHO:J96.0 acute respiratory failure Acute respiratory failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute respiratory failure -MONDO:0001210 MONDO:equivalentTo ICD10WHO:H05.4 enophthalmos Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos -MONDO:0001216 MONDO:equivalentTo ICD10WHO:K04.2 pulp degeneration Pulp degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration -MONDO:0001218 MONDO:equivalentTo ICD10WHO:J06.0 acute laryngopharyngitis Acute laryngopharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngopharyngitis -MONDO:0001220 MONDO:equivalentTo ICD10WHO:E20 hypoparathyroidism Hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoparathyroidism -MONDO:0001241 MONDO:equivalentTo ICD10WHO:P61.5 transient neonatal neutropenia Transient neonatal neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal neutropenia -MONDO:0001249 MONDO:equivalentTo ICD10WHO:A71 trachoma Trachoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trachoma -MONDO:0001251 MONDO:equivalentTo ICD10WHO:K04.5 chronic apical periodontitis Chronic apical periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic apical periodontitis -MONDO:0001260 MONDO:equivalentTo ICD10WHO:B65.3 cercarial dermatitis Cercarial dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cercarial dermatitis -MONDO:0001266 MONDO:equivalentTo ICD10WHO:A46 erysipelas Erysipelas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erysipelas -MONDO:0001268 MONDO:equivalentTo ICD10WHO:K06.0 gingival recession Gingival recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession -MONDO:0001274 MONDO:equivalentTo ICD10WHO:K59.4 anal spasm Anal spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal spasm -MONDO:0001276 MONDO:equivalentTo ICD10WHO:F80.1 expressive language disorder Expressive language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label expressive language disorder -MONDO:0001284 MONDO:equivalentTo ICD10WHO:N80.5 endometriosis of intestine Endometriosis of intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of intestine -MONDO:0001285 MONDO:equivalentTo ICD10WHO:N80.3 endometriosis of pelvic peritoneum Endometriosis of pelvic peritoneum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of pelvic peritoneum -MONDO:0001287 MONDO:equivalentTo ICD10WHO:N80.6 endometriosis in cutaneous scar Endometriosis in cutaneous scar semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis in cutaneous scar -MONDO:0001288 MONDO:equivalentTo ICD10WHO:N80.4 endometriosis of rectovaginal septum and vagina Endometriosis of rectovaginal septum and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of rectovaginal septum and vagina -MONDO:0001294 MONDO:equivalentTo ICD10WHO:G90.2 Horner syndrome Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horner syndrome -MONDO:0001295 MONDO:equivalentTo ICD10WHO:G90.0 idiopathic peripheral autonomic neuropathy Idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peripheral autonomic neuropathy -MONDO:0001302 MONDO:equivalentTo ICD10WHO:I11 hypertensive heart disease Hypertensive heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disease -MONDO:0001312 MONDO:equivalentTo ICD10WHO:H65.0 acute serous otitis media Acute serous otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute serous otitis media -MONDO:0001316 MONDO:equivalentTo ICD10WHO:G00.2 streptococcal meningitis Streptococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal meningitis -MONDO:0001330 MONDO:equivalentTo ICD10WHO:H52.4 presbyopia Presbyopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbyopia -MONDO:0001332 MONDO:equivalentTo ICD10WHO:M12.3 palindromic rheumatism Palindromic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palindromic rheumatism -MONDO:0001339 MONDO:equivalentTo ICD10WHO:I81 portal vein thrombosis Portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal vein thrombosis -MONDO:0001349 MONDO:equivalentTo ICD10WHO:K02.4 odontoclasia Odontoclasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoclasia -MONDO:0001367 MONDO:equivalentTo ICD10WHO:D73.2 chronic congestive splenomegaly Chronic congestive splenomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic congestive splenomegaly -MONDO:0001369 MONDO:equivalentTo ICD10WHO:J37.0 chronic laryngitis Chronic laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic laryngitis -MONDO:0001382 MONDO:equivalentTo ICD10WHO:K76.7 hepatorenal syndrome Hepatorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatorenal syndrome -MONDO:0001383 MONDO:equivalentTo ICD10WHO:H44.2 degenerative myopia Degenerative myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degenerative myopia -MONDO:0001384 MONDO:equivalentTo ICD10WHO:H52.1 myopia Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia -MONDO:0001391 MONDO:equivalentTo ICD10WHO:A30.0 indeterminate leprosy Indeterminate leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate leprosy -MONDO:0001410 MONDO:equivalentTo ICD10WHO:N95.2 postmenopausal atrophic vaginitis Postmenopausal atrophic vaginitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal atrophic vaginitis -MONDO:0001415 MONDO:equivalentTo ICD10WHO:N50.0 atrophy of testis Atrophy of testis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophy of testis -MONDO:0001443 MONDO:equivalentTo ICD10WHO:H74.0 tympanosclerosis Tympanosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tympanosclerosis -MONDO:0001444 MONDO:equivalentTo ICD10WHO:B57 Chagas disease Chagas disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chagas disease -MONDO:0001449 MONDO:equivalentTo ICD10WHO:A87.2 lymphocytic choriomeningitis Lymphocytic choriomeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic choriomeningitis -MONDO:0001451 MONDO:equivalentTo ICD10WHO:H35.4 peripheral retinal degeneration Peripheral retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral retinal degeneration -MONDO:0001461 MONDO:equivalentTo ICD10WHO:B35.4 tinea corporis Tinea corporis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea corporis -MONDO:0001479 MONDO:equivalentTo ICD10WHO:A36.3 cutaneous diphtheria Cutaneous diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous diphtheria -MONDO:0001484 MONDO:equivalentTo ICD10WHO:F20.0 paranoid schizophrenia Paranoid schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid schizophrenia -MONDO:0001492 MONDO:equivalentTo ICD10WHO:I27.1 kyphoscoliotic heart disease Kyphoscoliotic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic heart disease -MONDO:0001505 MONDO:equivalentTo ICD10WHO:K70.1 alcoholic hepatitis Alcoholic hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic hepatitis -MONDO:0001506 MONDO:equivalentTo ICD10WHO:N41.3 prostatocystitis Prostatocystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostatocystitis -MONDO:0001508 MONDO:equivalentTo ICD10WHO:H69.0 patulous eustachian tube Patulous Eustachian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patulous eustachian tube -MONDO:0001515 MONDO:equivalentTo ICD10WHO:H18.4 corneal degeneration Corneal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal degeneration -MONDO:0001540 MONDO:equivalentTo ICD10WHO:J67.1 bagassosis Bagassosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bagassosis -MONDO:0001543 MONDO:equivalentTo ICD10WHO:G57.0 lesion of sciatic nerve Lesion of sciatic nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesion of sciatic nerve -MONDO:0001551 MONDO:equivalentTo ICD10WHO:N76.6 ulceration of vulva Ulceration of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulceration of vulva -MONDO:0001557 MONDO:equivalentTo ICD10WHO:M70.2 olecranon bursitis Olecranon bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olecranon bursitis -MONDO:0001583 MONDO:equivalentTo ICD10WHO:G63.2 diabetic polyneuropathy Diabetic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic polyneuropathy -MONDO:0001600 MONDO:equivalentTo ICD10WHO:K11.6 mucocele of salivary gland Mucocele of salivary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocele of salivary gland -MONDO:0001601 MONDO:equivalentTo ICD10WHO:B53.0 Plasmodium ovale malaria Plasmodium ovale malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium ovale malaria -MONDO:0001604 MONDO:equivalentTo ICD10WHO:H02.2 lagophthalmos Lagophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lagophthalmos -MONDO:0001616 MONDO:equivalentTo ICD10WHO:B48.0 lobomycosis Lobomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobomycosis -MONDO:0001617 MONDO:equivalentTo ICD10WHO:G45.4 transient global amnesia Transient global amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient global amnesia -MONDO:0001618 MONDO:equivalentTo ICD10WHO:N48.1 balanoposthitis Balanoposthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balanoposthitis -MONDO:0001620 MONDO:equivalentTo ICD10WHO:A68.0 louse-borne relapsing fever Louse-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label louse-borne relapsing fever -MONDO:0001621 MONDO:equivalentTo ICD10WHO:A68.1 tick-borne relapsing fever Tick-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne relapsing fever -MONDO:0001624 MONDO:equivalentTo ICD10WHO:J01.3 acute sphenoidal sinusitis Acute sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sphenoidal sinusitis -MONDO:0001625 MONDO:equivalentTo ICD10WHO:N83.1 corpus luteum cyst Corpus luteum cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst -MONDO:0001628 MONDO:equivalentTo ICD10WHO:B35.1 tinea unguium Tinea unguium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea unguium -MONDO:0001633 MONDO:equivalentTo ICD10WHO:H34.1 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion -MONDO:0001641 MONDO:equivalentTo ICD10WHO:O14.1 severe pre-eclampsia Severe pre-eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe pre-eclampsia -MONDO:0001650 MONDO:equivalentTo ICD10WHO:N30.0 acute cystitis Acute cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cystitis -MONDO:0001687 MONDO:equivalentTo ICD10WHO:H28.0 diabetic cataract Diabetic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic cataract -MONDO:0001689 MONDO:equivalentTo ICD10WHO:K14.3 hypertrophy of tongue papillae Hypertrophy of tongue papillae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of tongue papillae -MONDO:0001699 MONDO:equivalentTo ICD10WHO:B35.2 tinea manuum Tinea manuum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea manuum -MONDO:0001701 MONDO:equivalentTo ICD10WHO:A22.2 gastrointestinal anthrax Gastrointestinal anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal anthrax -MONDO:0001710 MONDO:equivalentTo ICD10WHO:K83.2 perforation of bile duct Perforation of bile duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perforation of bile duct -MONDO:0001718 MONDO:equivalentTo ICD10WHO:H15.0 scleritis Scleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleritis -MONDO:0001719 MONDO:equivalentTo ICD10WHO:M73.0 gonococcal bursitis Gonococcal bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal bursitis -MONDO:0001732 MONDO:equivalentTo ICD10WHO:N30.3 trigonitis Trigonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonitis -MONDO:0001734 MONDO:equivalentTo ICD10WHO:Q85.1 tuberous sclerosis Tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberous sclerosis -MONDO:0001736 MONDO:equivalentTo ICD10WHO:P39.0 neonatal infective mastitis Neonatal infective mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal infective mastitis -MONDO:0001737 MONDO:equivalentTo ICD10WHO:A33 tetanus neonatorum Tetanus neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus neonatorum -MONDO:0001753 MONDO:equivalentTo ICD10WHO:N97.2 female infertility of uterine origin Female infertility of uterine origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility of uterine origin -MONDO:0001754 MONDO:equivalentTo ICD10WHO:O15 eclampsia Eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eclampsia -MONDO:0001772 MONDO:equivalentTo ICD10WHO:K62.6 ulcer of anus and rectum Ulcer of anus and rectum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcer of anus and rectum -MONDO:0001780 MONDO:equivalentTo ICD10WHO:F52.4 premature ejaculation Premature ejaculation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ejaculation -MONDO:0001797 MONDO:equivalentTo ICD10WHO:A57 chancroid Chancroid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chancroid -MONDO:0001798 MONDO:equivalentTo ICD10WHO:M35.7 hypermobility syndrome Hypermobility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypermobility syndrome -MONDO:0001823 MONDO:equivalentTo ICD10WHO:I49.5 sick sinus syndrome Sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sick sinus syndrome -MONDO:0001827 MONDO:equivalentTo ICD10WHO:B36.2 white piedra White piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white piedra -MONDO:0001830 MONDO:equivalentTo ICD10WHO:F45.0 somatization disorder Somatization disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatization disorder -MONDO:0001859 MONDO:equivalentTo ICD10WHO:M89.0 algoneurodystrophy Algoneurodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label algoneurodystrophy -MONDO:0001868 MONDO:equivalentTo ICD10WHO:H40.2 primary angle-closure glaucoma Primary angle-closure glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary angle-closure glaucoma -MONDO:0001873 MONDO:equivalentTo ICD10WHO:G51.1 geniculate ganglionitis Geniculate ganglionitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geniculate ganglionitis -MONDO:0001880 MONDO:equivalentTo ICD10WHO:K14.2 median rhomboid glossitis Median rhomboid glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median rhomboid glossitis -MONDO:0001881 MONDO:equivalentTo ICD10WHO:A48.3 toxic shock syndrome Toxic shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic shock syndrome -MONDO:0001889 MONDO:equivalentTo ICD10WHO:E28 ovarian dysfunction Ovarian dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian dysfunction -MONDO:0001896 MONDO:equivalentTo ICD10WHO:G91.1 obstructive hydrocephalus Obstructive hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive hydrocephalus -MONDO:0001903 MONDO:equivalentTo ICD10WHO:M65.2 calcific tendinitis Calcific tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calcific tendinitis -MONDO:0001912 MONDO:equivalentTo ICD10WHO:J01.1 acute frontal sinusitis Acute frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute frontal sinusitis -MONDO:0001927 MONDO:equivalentTo ICD10WHO:I37.1 pulmonary valve insufficiency Pulmonary valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve insufficiency -MONDO:0001942 MONDO:equivalentTo ICD10WHO:F41.1 generalized anxiety disorder Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized anxiety disorder -MONDO:0001943 MONDO:equivalentTo ICD10WHO:B52 Plasmodium malariae malaria Plasmodium malariae malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium malariae malaria -MONDO:0001949 MONDO:equivalentTo ICD10WHO:E06.0 acute thyroiditis Acute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute thyroiditis -MONDO:0001954 MONDO:equivalentTo ICD10WHO:I82.1 thrombophlebitis migrans Thrombophlebitis migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophlebitis migrans -MONDO:0001964 MONDO:equivalentTo ICD10WHO:H66.1 chronic tubotympanic suppurative otitis media Chronic tubotympanic suppurative otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic tubotympanic suppurative otitis media -MONDO:0001999 MONDO:equivalentTo ICD10WHO:I27.0 primary pulmonary hypertension Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension -MONDO:0002008 MONDO:equivalentTo ICD10WHO:H83.0 labyrinthitis Labyrinthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label labyrinthitis -MONDO:0002026 MONDO:equivalentTo ICD10WHO:B37 candidiasis Candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label candidiasis -MONDO:0002045 MONDO:equivalentTo ICD10WHO:G91.0 communicating hydrocephalus Communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating hydrocephalus -MONDO:0002070 MONDO:equivalentTo ICD10WHO:Q21.0 ventricular septal defect Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect -MONDO:0002075 MONDO:equivalentTo ICD10WHO:J93.0 spontaneous tension pneumothorax Spontaneous tension pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous tension pneumothorax -MONDO:0002076 MONDO:equivalentTo ICD10WHO:J93 pneumothorax Pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumothorax -MONDO:0002125 MONDO:equivalentTo ICD10WHO:G41 status epilepticus Status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status epilepticus -MONDO:0002127 MONDO:equivalentTo ICD10WHO:N35 urethral stricture Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture -MONDO:0002128 MONDO:equivalentTo ICD10WHO:G58.7 mononeuritis multiplex Mononeuritis multiplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononeuritis multiplex -MONDO:0002133 MONDO:equivalentTo ICD10WHO:I09.2 chronic rheumatic pericarditis Chronic rheumatic pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rheumatic pericarditis -MONDO:0002137 MONDO:equivalentTo ICD10WHO:H01.1 noninfectious dermatoses of eyelid Noninfectious dermatoses of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noninfectious dermatoses of eyelid -MONDO:0002153 MONDO:equivalentTo ICD10WHO:L65.0 telogen effluvium Telogen effluvium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telogen effluvium -MONDO:0002154 MONDO:equivalentTo ICD10WHO:A59 trichomoniasis Trichomoniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomoniasis -MONDO:0002155 MONDO:equivalentTo ICD10WHO:K81 cholecystitis Cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholecystitis -MONDO:0002175 MONDO:equivalentTo ICD10WHO:H35.3 degeneration of macula and posterior pole Degeneration of macula and posterior pole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degeneration of macula and posterior pole -MONDO:0002186 MONDO:equivalentTo ICD10WHO:J01.0 acute maxillary sinusitis Acute maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute maxillary sinusitis -MONDO:0002196 MONDO:equivalentTo ICD10WHO:P78.0 perinatal intestinal perforation Perinatal intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal intestinal perforation -MONDO:0002253 MONDO:equivalentTo ICD10WHO:M47 spondylosis Spondylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylosis -MONDO:0002307 MONDO:equivalentTo ICD10WHO:H10.5 blepharoconjunctivitis Blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoconjunctivitis -MONDO:0002314 MONDO:equivalentTo ICD10WHO:H10.4 chronic conjunctivitis Chronic conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic conjunctivitis -MONDO:0002342 MONDO:equivalentTo ICD10WHO:M94.2 chondromalacia Chondromalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia -MONDO:0002419 MONDO:equivalentTo ICD10WHO:F95.0 transient tic disorder Transient tic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tic disorder -MONDO:0002473 MONDO:equivalentTo ICD10WHO:Q61 cystic kidney disease Cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic kidney disease -MONDO:0002594 MONDO:equivalentTo ICD10WHO:B04 monkeypox Monkeypox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monkeypox -MONDO:0002613 MONDO:equivalentTo ICD10WHO:F60.4 histrionic personality disorder Histrionic personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histrionic personality disorder -MONDO:0002660 MONDO:equivalentTo ICD10WHO:H02.3 blepharochalasis Blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharochalasis -MONDO:0002679 MONDO:equivalentTo ICD10WHO:I63 cerebral infarction Cerebral infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral infarction -MONDO:0002754 MONDO:equivalentTo ICD10WHO:C90.2 extramedullary plasmacytoma Extramedullary plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary plasmacytoma -MONDO:0002815 MONDO:equivalentTo ICD10WHO:I40 acute myocarditis Acute myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocarditis -MONDO:0002885 MONDO:equivalentTo ICD10WHO:L08.1 erythrasma Erythrasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrasma -MONDO:0002922 MONDO:equivalentTo ICD10WHO:L08.0 pyoderma Pyoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma -MONDO:0002959 MONDO:equivalentTo ICD10WHO:M54.1 radiculopathy Radiculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiculopathy -MONDO:0003009 MONDO:equivalentTo ICD10WHO:E26 hyperaldosteronism Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism -MONDO:0003040 MONDO:equivalentTo ICD10WHO:R41.2 retrograde amnesia Retrograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia -MONDO:0003085 MONDO:equivalentTo ICD10WHO:H16 keratitis Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratitis -MONDO:0003231 MONDO:equivalentTo ICD10WHO:A80.4 acute nonparalytic poliomyelitis Acute nonparalytic poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute nonparalytic poliomyelitis -MONDO:0003233 MONDO:equivalentTo ICD10WHO:G25.0 essential tremor Essential tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential tremor -MONDO:0003398 MONDO:equivalentTo ICD10WHO:R41.1 anterograde amnesia Anterograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterograde amnesia -MONDO:0003417 MONDO:equivalentTo ICD10WHO:H51.2 internuclear ophthalmoplegia Internuclear ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internuclear ophthalmoplegia -MONDO:0003608 MONDO:equivalentTo ICD10WHO:H47.2 optic atrophy Optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy -MONDO:0003709 MONDO:equivalentTo ICD10WHO:F40.0 agoraphobia Agoraphobia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agoraphobia -MONDO:0003799 MONDO:equivalentTo ICD10WHO:H10 conjunctivitis Conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjunctivitis -MONDO:0004126 MONDO:equivalentTo ICD10WHO:E06 thyroiditis Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroiditis -MONDO:0004215 MONDO:equivalentTo ICD10WHO:A22.0 cutaneous anthrax Cutaneous anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous anthrax -MONDO:0004223 MONDO:equivalentTo ICD10WHO:H74.4 polyp of middle ear Polyp of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of middle ear -MONDO:0004514 MONDO:equivalentTo ICD10WHO:J31.0 chronic rhinitis Chronic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rhinitis -MONDO:0004522 MONDO:equivalentTo ICD10WHO:K65 peritonitis Peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonitis -MONDO:0004525 MONDO:equivalentTo ICD10WHO:B86 scabies Scabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scabies -MONDO:0004568 MONDO:equivalentTo ICD10WHO:K56.0 paralytic ileus Paralytic ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic ileus -MONDO:0004577 MONDO:equivalentTo ICD10WHO:H16.0 corneal ulcer Corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal ulcer -MONDO:0004582 MONDO:equivalentTo ICD10WHO:I09.0 rheumatic myocarditis Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis -MONDO:0004585 MONDO:equivalentTo ICD10WHO:O40 polyhydramnios Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios -MONDO:0004586 MONDO:equivalentTo ICD10WHO:J99.0 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease -MONDO:0004586 MONDO:equivalentTo ICD10WHO:M05.1 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease -MONDO:0004588 MONDO:equivalentTo ICD10WHO:H53.6 night blindness Night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness -MONDO:0004592 MONDO:equivalentTo ICD10WHO:L01 impetigo Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo -MONDO:0004619 MONDO:equivalentTo ICD10WHO:B05 measles Measles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label measles -MONDO:0004627 MONDO:equivalentTo ICD10WHO:K29.8 duodenitis Duodenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenitis -MONDO:0004640 MONDO:equivalentTo ICD10WHO:K29.2 alcoholic gastritis Alcoholic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic gastritis -MONDO:0004648 MONDO:equivalentTo ICD10WHO:F01 vascular dementia Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia -MONDO:0004651 MONDO:equivalentTo ICD10WHO:B03 smallpox Smallpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smallpox -MONDO:0004665 MONDO:equivalentTo ICD10WHO:C81.1 nodular sclerosis classical Hodgkin lymphoma Nodular sclerosis classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular sclerosis classical hodgkin lymphoma -MONDO:0004668 MONDO:equivalentTo ICD10WHO:B66.3 fascioliasis Fascioliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fascioliasis -MONDO:0004670 MONDO:equivalentTo ICD10WHO:L93 lupus erythematosus Lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus -MONDO:0004672 MONDO:equivalentTo ICD10WHO:B66.5 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis -MONDO:0004677 MONDO:equivalentTo ICD10WHO:B36.1 tinea nigra Tinea nigra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea nigra -MONDO:0004678 MONDO:equivalentTo ICD10WHO:B35 dermatophytosis Dermatophytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatophytosis -MONDO:0004679 MONDO:equivalentTo ICD10WHO:N89.4 leukoplakia of vagina Leukoplakia of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of vagina -MONDO:0004717 MONDO:equivalentTo ICD10WHO:K76.4 peliosis hepatis Peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peliosis hepatis -MONDO:0004745 MONDO:equivalentTo ICD10WHO:N48.3 priapism Priapism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label priapism -MONDO:0004747 MONDO:equivalentTo ICD10WHO:Q36 cleft lip Cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip -MONDO:0004753 MONDO:equivalentTo ICD10WHO:H50.6 mechanical strabismus Mechanical strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mechanical strabismus -MONDO:0004754 MONDO:equivalentTo ICD10WHO:K62.3 rectal prolapse Rectal prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal prolapse -MONDO:0004757 MONDO:equivalentTo ICD10WHO:J32.2 chronic ethmoidal sinusitis Chronic ethmoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic ethmoidal sinusitis -MONDO:0004766 MONDO:equivalentTo ICD10WHO:J46 status asthmaticus Status asthmaticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status asthmaticus -MONDO:0004768 MONDO:equivalentTo ICD10WHO:H16.2 keratoconjunctivitis Keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconjunctivitis -MONDO:0004773 MONDO:equivalentTo ICD10WHO:H20 iridocyclitis Iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocyclitis -MONDO:0004775 MONDO:equivalentTo ICD10WHO:H20.2 lens-induced iridocyclitis Lens-induced iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lens-induced iridocyclitis -MONDO:0004777 MONDO:equivalentTo ICD10WHO:J04.0 acute laryngitis Acute laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngitis -MONDO:0004781 MONDO:equivalentTo ICD10WHO:I21 acute myocardial infarction Acute myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocardial infarction -MONDO:0004782 MONDO:equivalentTo ICD10WHO:E23.2 diabetes insipidus Diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes insipidus -MONDO:0004785 MONDO:equivalentTo ICD10WHO:H01.0 blepharitis Blepharitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharitis -MONDO:0004789 MONDO:equivalentTo ICD10WHO:K83.0 cholangitis Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangitis -MONDO:0004795 MONDO:equivalentTo ICD10WHO:H60 otitis externa Otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa -MONDO:0004804 MONDO:equivalentTo ICD10WHO:H04.0 dacryoadenitis Dacryoadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryoadenitis -MONDO:0004808 MONDO:equivalentTo ICD10WHO:N60 benign mammary dysplasia Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign mammary dysplasia -MONDO:0004822 MONDO:equivalentTo ICD10WHO:J47 bronchiectasis Bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiectasis -MONDO:0004824 MONDO:equivalentTo ICD10WHO:P37.5 neonatal candidiasis Neonatal candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal candidiasis -MONDO:0004835 MONDO:equivalentTo ICD10WHO:M72.6 necrotizing fasciitis Necrotizing fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing fasciitis -MONDO:0004847 MONDO:equivalentTo ICD10WHO:H25 senile cataract Senile cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senile cataract -MONDO:0004859 MONDO:equivalentTo ICD10WHO:K82.1 hydrops of gallbladder Hydrops of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops of gallbladder -MONDO:0004863 MONDO:equivalentTo ICD10WHO:H44.0 purulent endophthalmitis Purulent endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purulent endophthalmitis -MONDO:0004869 MONDO:equivalentTo ICD10WHO:I86.2 pelvic varices Pelvic varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic varices -MONDO:0004877 MONDO:equivalentTo ICD10WHO:P61.0 transient neonatal thrombocytopenia Transient neonatal thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal thrombocytopenia -MONDO:0004911 MONDO:equivalentTo ICD10WHO:A52.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis -MONDO:0004911 MONDO:equivalentTo ICD10WHO:I98.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis -MONDO:0004919 MONDO:equivalentTo ICD10WHO:N43.1 infected hydrocele Infected hydrocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infected hydrocele -MONDO:0004933 MONDO:equivalentTo ICD10WHO:Q23.4 hypoplastic left heart syndrome Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome -MONDO:0004937 MONDO:equivalentTo ICD10WHO:E67.3 hypervitaminosis D Hypervitaminosis D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis d -MONDO:0004975 MONDO:equivalentTo ICD10WHO:G30 Alzheimer disease Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alzheimer disease -MONDO:0004977 MONDO:equivalentTo ICD10WHO:C86.5 angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma -MONDO:0004979 MONDO:equivalentTo ICD10WHO:J45 asthma Asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asthma -MONDO:0004994 MONDO:equivalentTo ICD10WHO:I42 cardiomyopathy Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy -MONDO:0005009 MONDO:equivalentTo ICD10WHO:I50.0 congestive heart failure Congestive heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congestive heart failure -MONDO:0005015 MONDO:equivalentTo ICD10WHO:E10-E14 diabetes mellitus Diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes mellitus -MONDO:0005021 MONDO:equivalentTo ICD10WHO:I42.0 dilated cardiomyopathy Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy -MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma -MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40-H42 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma -MONDO:0005052 MONDO:equivalentTo ICD10WHO:K58 irritable bowel syndrome Irritable bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irritable bowel syndrome -MONDO:0005065 MONDO:equivalentTo ICD10WHO:C45 mesothelioma Mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesothelioma -MONDO:0005080 MONDO:equivalentTo ICD10WHO:K76.6 portal hypertension Portal hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal hypertension -MONDO:0005083 MONDO:equivalentTo ICD10WHO:L40 psoriasis Psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis -MONDO:0005085 MONDO:equivalentTo ICD10WHO:H11.0 pterygium Pterygium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium -MONDO:0005090 MONDO:equivalentTo ICD10WHO:F20 schizophrenia Schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizophrenia -MONDO:0005100 MONDO:equivalentTo ICD10WHO:M34 systemic sclerosis Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis -MONDO:0005101 MONDO:equivalentTo ICD10WHO:K51 ulcerative colitis Ulcerative colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcerative colitis -MONDO:0005125 MONDO:equivalentTo ICD10WHO:A30.3 borderline leprosy Borderline leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borderline leprosy -MONDO:0005126 MONDO:equivalentTo ICD10WHO:A30.1 tuberculoid leprosy Tuberculoid leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculoid leprosy -MONDO:0005127 MONDO:equivalentTo ICD10WHO:A30.5 lepromatous leprosy Lepromatous leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lepromatous leprosy -MONDO:0005133 MONDO:equivalentTo ICD10WHO:N80 endometriosis Endometriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis -MONDO:0005146 MONDO:equivalentTo ICD10WHO:F43.1 post-traumatic stress disorder Post-traumatic stress disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-traumatic stress disorder -MONDO:0005147 MONDO:equivalentTo ICD10WHO:E10 type 1 diabetes mellitus Type 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 diabetes mellitus -MONDO:0005148 MONDO:equivalentTo ICD10WHO:E11 type 2 diabetes mellitus Type 2 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 2 diabetes mellitus -MONDO:0005152 MONDO:equivalentTo ICD10WHO:E23.0 hypopituitarism Hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopituitarism -MONDO:0005173 MONDO:equivalentTo ICD10WHO:L57.0 actinic keratosis Actinic keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic keratosis -MONDO:0005180 MONDO:equivalentTo ICD10WHO:G20 Parkinson disease Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinson disease -MONDO:0005181 MONDO:equivalentTo ICD10WHO:H49.4 progressive external ophthalmoplegia Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia -MONDO:0005230 MONDO:equivalentTo ICD10WHO:L03 cellulitis Cellulitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cellulitis -MONDO:0005246 MONDO:equivalentTo ICD10WHO:M86 osteomyelitis Osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomyelitis -MONDO:0005252 MONDO:equivalentTo ICD10WHO:I50 heart failure Heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart failure -MONDO:0005259 MONDO:equivalentTo ICD10WHO:F84.5 Asperger syndrome Asperger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asperger syndrome -MONDO:0005266 MONDO:equivalentTo ICD10WHO:H36.0 diabetic retinopathy Diabetic retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic retinopathy -MONDO:0005276 MONDO:equivalentTo ICD10WHO:K02 dental caries Dental caries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dental caries -MONDO:0005279 MONDO:equivalentTo ICD10WHO:I26 pulmonary embolism Pulmonary embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary embolism -MONDO:0005300 MONDO:equivalentTo ICD10WHO:N18 chronic kidney disease Chronic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic kidney disease -MONDO:0005301 MONDO:equivalentTo ICD10WHO:G35 multiple sclerosis Multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis -MONDO:0005306 MONDO:equivalentTo ICD10WHO:M45 ankylosing spondylitis Ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosing spondylitis -MONDO:0005311 MONDO:equivalentTo ICD10WHO:I70 atherosclerosis Atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis -MONDO:0005326 MONDO:equivalentTo ICD10WHO:L55 sunburn Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn -MONDO:0005340 MONDO:equivalentTo ICD10WHO:L63 alopecia areata Alopecia areata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia areata -MONDO:0005345 MONDO:equivalentTo ICD10WHO:Q54 hypospadias Hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias -MONDO:0005349 MONDO:equivalentTo ICD10WHO:H80 otosclerosis Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis -MONDO:0005351 MONDO:equivalentTo ICD10WHO:F50.0 anorexia nervosa Anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorexia nervosa -MONDO:0005372 MONDO:equivalentTo ICD10WHO:N46 male infertility Male infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility -MONDO:0005373 MONDO:equivalentTo ICD10WHO:A39 meningococcal infection Meningococcal infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal infection -MONDO:0005377 MONDO:equivalentTo ICD10WHO:N04 nephrotic syndrome Nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome -MONDO:0005380 MONDO:equivalentTo ICD10WHO:M87 osteonecrosis Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis -MONDO:0005387 MONDO:equivalentTo ICD10WHO:E28.3 primary ovarian failure Primary ovarian failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ovarian failure -MONDO:0005392 MONDO:equivalentTo ICD10WHO:M41 scoliosis Scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scoliosis -MONDO:0005393 MONDO:equivalentTo ICD10WHO:M10 gout Gout semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gout -MONDO:0005412 MONDO:equivalentTo ICD10WHO:K26 duodenal ulcer Duodenal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal ulcer -MONDO:0005445 MONDO:equivalentTo ICD10WHO:B55.0 visceral leishmaniasis Visceral leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral leishmaniasis -MONDO:0005446 MONDO:equivalentTo ICD10WHO:B55.1 cutaneous leishmaniasis Cutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis -MONDO:0005452 MONDO:equivalentTo ICD10WHO:F50.2 bulimia nervosa Bulimia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulimia nervosa -MONDO:0005469 MONDO:equivalentTo ICD10WHO:I95.1 orthostatic hypotension Orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension -MONDO:0005477 MONDO:equivalentTo ICD10WHO:I47.2 ventricular tachycardia Ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular tachycardia -MONDO:0005492 MONDO:equivalentTo ICD10WHO:L50 urticaria Urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urticaria -MONDO:0005498 MONDO:equivalentTo ICD10WHO:A05.1 botulism Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism -MONDO:0005504 MONDO:equivalentTo ICD10WHO:A36 diphtheria Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria -MONDO:0005527 MONDO:equivalentTo ICD10WHO:G92 toxic encephalopathy Toxic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic encephalopathy -MONDO:0005541 MONDO:equivalentTo ICD10WHO:M43.0 spondylolysis Spondylolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolysis -MONDO:0005546 MONDO:equivalentTo ICD10WHO:M79.7 fibromyalgia Fibromyalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibromyalgia -MONDO:0005593 MONDO:equivalentTo ICD10WHO:K05.3 chronic periodontitis Chronic periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic periodontitis -MONDO:0005619 MONDO:equivalentTo ICD10WHO:A01.0 typhoid fever Typhoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typhoid fever -MONDO:0005620 MONDO:equivalentTo ICD10WHO:I68.0 cerebral amyloid angiopathy Cerebral amyloid angiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy -MONDO:0005631 MONDO:equivalentTo ICD10WHO:A42 actinomycosis Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis -MONDO:0005638 MONDO:equivalentTo ICD10WHO:R48.1 agnosia Agnosia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agnosia -MONDO:0005645 MONDO:equivalentTo ICD10WHO:B76.0 ancylostomiasis Ancylostomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ancylostomiasis -MONDO:0005654 MONDO:equivalentTo ICD10WHO:B77 ascariasis Ascariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascariasis -MONDO:0005657 MONDO:equivalentTo ICD10WHO:B44 aspergillosis Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis -MONDO:0005661 MONDO:equivalentTo ICD10WHO:B60.0 babesiosis Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis -MONDO:0005662 MONDO:equivalentTo ICD10WHO:A07.0 balantidiasis Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis -MONDO:0005664 MONDO:equivalentTo ICD10WHO:A44 bartonellosis Bartonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartonellosis -MONDO:0005669 MONDO:equivalentTo ICD10WHO:B36.3 black piedra Black piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label black piedra -MONDO:0005672 MONDO:equivalentTo ICD10WHO:B40 blastomycosis Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis -MONDO:0005683 MONDO:equivalentTo ICD10WHO:A23 brucellosis Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis -MONDO:0005692 MONDO:equivalentTo ICD10WHO:A28.1 cat-scratch disease Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease -MONDO:0005693 MONDO:equivalentTo ICD10WHO:G83.4 cauda equina syndrome Cauda equina syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cauda equina syndrome -MONDO:0005699 MONDO:equivalentTo ICD10WHO:A42.2 cervicofacial actinomycosis Cervicofacial actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial actinomycosis -MONDO:0005705 MONDO:equivalentTo ICD10WHO:B66.1 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis -MONDO:0005706 MONDO:equivalentTo ICD10WHO:B38 coccidioidomycosis Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis -MONDO:0005708 MONDO:equivalentTo ICD10WHO:A93.2 Colorado tick fever Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever -MONDO:0005711 MONDO:equivalentTo ICD10WHO:Q79.0 congenital diaphragmatic hernia Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia -MONDO:0005714 MONDO:equivalentTo ICD10WHO:A50 congenital syphilis Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis -MONDO:0005715 MONDO:equivalentTo ICD10WHO:P37.1 congenital toxoplasmosis Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis -MONDO:0005724 MONDO:equivalentTo ICD10WHO:B45 cryptococcosis Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis -MONDO:0005729 MONDO:equivalentTo ICD10WHO:B66.2 dicrocoeliasis Dicrocoeliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicrocoeliasis -MONDO:0005736 MONDO:equivalentTo ICD10WHO:A83.2 eastern equine encephalitis Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis -MONDO:0005738 MONDO:equivalentTo ICD10WHO:B67 echinococcosis Echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label echinococcosis -MONDO:0005746 MONDO:equivalentTo ICD10WHO:B80 enterobiasis Enterobiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enterobiasis -MONDO:0005767 MONDO:equivalentTo ICD10WHO:A48.0 gas gangrene Gas gangrene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gas gangrene -MONDO:0005771 MONDO:equivalentTo ICD10WHO:K14.1 geographic tongue Geographic tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geographic tongue -MONDO:0005772 MONDO:equivalentTo ICD10WHO:B48.3 geotrichosis Geotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geotrichosis -MONDO:0005774 MONDO:equivalentTo ICD10WHO:A24.0 glanders Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders -MONDO:0005777 MONDO:equivalentTo ICD10WHO:A58 granuloma inguinale Granuloma inguinale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma inguinale -MONDO:0005802 MONDO:equivalentTo ICD10WHO:B71.0 hymenolepiasis Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis -MONDO:0005810 MONDO:equivalentTo ICD10WHO:B27 infectious mononucleosis Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis -MONDO:0005820 MONDO:equivalentTo ICD10WHO:A96.2 Lassa fever Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever -MONDO:0005825 MONDO:equivalentTo ICD10WHO:A27 leptospirosis Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis -MONDO:0005828 MONDO:equivalentTo ICD10WHO:A32 listeriosis Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis -MONDO:0005832 MONDO:equivalentTo ICD10WHO:I89.1 lymphangitis Lymphangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangitis -MONDO:0005838 MONDO:equivalentTo ICD10WHO:B74.4 mansonelliasis Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis -MONDO:0005844 MONDO:equivalentTo ICD10WHO:H00.1 chalazion Chalazion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chalazion -MONDO:0005848 MONDO:equivalentTo ICD10WHO:A19 miliary tuberculosis Miliary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliary tuberculosis -MONDO:0005855 MONDO:equivalentTo ICD10WHO:B08.1 molluscum contagiosum Molluscum contagiosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label molluscum contagiosum -MONDO:0005859 MONDO:equivalentTo ICD10WHO:B55.2 mucocutaneous leishmaniasis Mucocutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous leishmaniasis -MONDO:0005870 MONDO:equivalentTo ICD10WHO:B76.1 necatoriasis Necatoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necatoriasis -MONDO:0005881 MONDO:equivalentTo ICD10WHO:O41.0 oligohydramnios Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios -MONDO:0005884 MONDO:equivalentTo ICD10WHO:B66.0 opisthorchiasis Opisthorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opisthorchiasis -MONDO:0005885 MONDO:equivalentTo ICD10WHO:H46 optic neuritis Optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic neuritis -MONDO:0005894 MONDO:equivalentTo ICD10WHO:B41 paracoccidioidomycosis Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis -MONDO:0005895 MONDO:equivalentTo ICD10WHO:B66.4 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis -MONDO:0005901 MONDO:equivalentTo ICD10WHO:A28.0 pasteurellosis Pasteurellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pasteurellosis -MONDO:0005906 MONDO:equivalentTo ICD10WHO:J36 peritonsillar abscess Peritonsillar abscess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonsillar abscess -MONDO:0005915 MONDO:equivalentTo ICD10WHO:B36.0 pityriasis versicolor Pityriasis versicolor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis versicolor -MONDO:0005918 MONDO:equivalentTo ICD10WHO:O44 placenta praevia Placenta praevia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placenta praevia -MONDO:0005920 MONDO:equivalentTo ICD10WHO:B50 Plasmodium falciparum malaria Plasmodium falciparum malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium falciparum malaria -MONDO:0005921 MONDO:equivalentTo ICD10WHO:B51 Plasmodium vivax malaria Plasmodium vivax malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium vivax malaria -MONDO:0005942 MONDO:equivalentTo ICD10WHO:G93.7 Reye syndrome Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome -MONDO:0005946 MONDO:equivalentTo ICD10WHO:B48.1 rhinosporidiosis Rhinosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinosporidiosis -MONDO:0005952 MONDO:equivalentTo ICD10WHO:A38 scarlet fever Scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarlet fever -MONDO:0005963 MONDO:equivalentTo ICD10WHO:B70.1 sparganosis Sparganosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sparganosis -MONDO:0005965 MONDO:equivalentTo ICD10WHO:M48.0 spinal stenosis Spinal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis -MONDO:0005968 MONDO:equivalentTo ICD10WHO:B42 sporotrichosis Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis -MONDO:0005974 MONDO:equivalentTo ICD10WHO:B78 strongyloidiasis Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis -MONDO:0005984 MONDO:equivalentTo ICD10WHO:B35.3 tinea pedis Tinea pedis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea pedis -MONDO:0005989 MONDO:equivalentTo ICD10WHO:B58 toxoplasmosis Toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxoplasmosis -MONDO:0005991 MONDO:equivalentTo ICD10WHO:A79.0 trench fever Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever -MONDO:0005996 MONDO:equivalentTo ICD10WHO:B79 trichuriasis Trichuriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichuriasis -MONDO:0006000 MONDO:equivalentTo ICD10WHO:K67.3 tuberculous peritonitis Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculous peritonitis -MONDO:0006004 MONDO:equivalentTo ICD10WHO:J30.0 vasomotor rhinitis Vasomotor rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasomotor rhinitis -MONDO:0006008 MONDO:equivalentTo ICD10WHO:H81.2 vestibular neuronitis Vestibular neuronitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vestibular neuronitis -MONDO:0006011 MONDO:equivalentTo ICD10WHO:B15-B19 viral hepatitis Viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hepatitis -MONDO:0006015 MONDO:equivalentTo ICD10WHO:A39.1 Waterhouse-Friderichsen syndrome Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome -MONDO:0006019 MONDO:equivalentTo ICD10WHO:A66 yaws Yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yaws -MONDO:0006032 MONDO:equivalentTo ICD10WHO:N30 cystitis Cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystitis -MONDO:0006038 MONDO:equivalentTo ICD10WHO:K52.3 indeterminate colitis Indeterminate colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate colitis -MONDO:0006248 MONDO:equivalentTo ICD10WHO:O01 hydatidiform mole Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole -MONDO:0006497 MONDO:equivalentTo ICD10WHO:G80 cerebral palsy Cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral palsy -MONDO:0006515 MONDO:equivalentTo ICD10WHO:K85 acute pancreatitis Acute pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pancreatitis -MONDO:0006524 MONDO:equivalentTo ICD10WHO:L90.4 acrodermatitis chronica atrophicans Acrodermatitis chronica atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis chronica atrophicans -MONDO:0006525 MONDO:equivalentTo ICD10WHO:L23 allergic contact dermatitis Allergic contact dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic contact dermatitis -MONDO:0006526 MONDO:equivalentTo ICD10WHO:L50.0 allergic urticaria Allergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic urticaria -MONDO:0006527 MONDO:equivalentTo ICD10WHO:L74.4 anhidrosis Anhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrosis -MONDO:0006532 MONDO:equivalentTo ICD10WHO:H60.4 cholesteatoma of external ear Cholesteatoma of external ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of external ear -MONDO:0006533 MONDO:equivalentTo ICD10WHO:H71 cholesteatoma of middle ear Cholesteatoma of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of middle ear -MONDO:0006534 MONDO:equivalentTo ICD10WHO:L50.5 cholinergic urticaria Cholinergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholinergic urticaria -MONDO:0006541 MONDO:equivalentTo ICD10WHO:Q81 epidermolysis bullosa Epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa -MONDO:0006543 MONDO:equivalentTo ICD10WHO:Q81.2 epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa dystrophica -MONDO:0006545 MONDO:equivalentTo ICD10WHO:L51 erythema multiforme Erythema multiforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme -MONDO:0006551 MONDO:equivalentTo ICD10WHO:L65.2 alopecia mucinosa Alopecia mucinosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia mucinosa -MONDO:0006554 MONDO:equivalentTo ICD10WHO:L92.0 granuloma annulare Granuloma annulare semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma annulare -MONDO:0006559 MONDO:equivalentTo ICD10WHO:L73.2 hidradenitis suppurativa Hidradenitis suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa -MONDO:0006567 MONDO:equivalentTo ICD10WHO:P57.0 kernicterus due to isoimmunization Kernicterus due to isoimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kernicterus due to isoimmunization -MONDO:0006571 MONDO:equivalentTo ICD10WHO:L44.1 lichen nitidus Lichen nitidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen nitidus -MONDO:0006572 MONDO:equivalentTo ICD10WHO:L43 lichen planus Lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus -MONDO:0006581 MONDO:equivalentTo ICD10WHO:L74.0 miliaria rubra Miliaria rubra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria rubra -MONDO:0006592 MONDO:equivalentTo ICD10WHO:L41 parapsoriasis Parapsoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parapsoriasis -MONDO:0006594 MONDO:equivalentTo ICD10WHO:L10 pemphigus Pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus -MONDO:0006601 MONDO:equivalentTo ICD10WHO:L42 pityriasis rosea Pityriasis rosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rosea -MONDO:0006604 MONDO:equivalentTo ICD10WHO:L71 rosacea Rosacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rosacea -MONDO:0006618 MONDO:equivalentTo ICD10WHO:L50.4 vibratory urticaria Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria -MONDO:0006643 MONDO:equivalentTo ICD10WHO:I42.6 alcoholic cardiomyopathy Alcoholic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic cardiomyopathy -MONDO:0006645 MONDO:equivalentTo ICD10WHO:G62.1 alcoholic polyneuropathy Alcoholic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic polyneuropathy -MONDO:0006664 MONDO:equivalentTo ICD10WHO:Q21.1 atrial septal defect Atrial septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect -MONDO:0006665 MONDO:equivalentTo ICD10WHO:K29.4 chronic atrophic gastritis Chronic atrophic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic atrophic gastritis -MONDO:0006676 MONDO:equivalentTo ICD10WHO:E51.1 beriberi Beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beriberi -MONDO:0006688 MONDO:equivalentTo ICD10WHO:J66.0 byssinosis Byssinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label byssinosis -MONDO:0006692 MONDO:equivalentTo ICD10WHO:G37.2 central pontine myelinolysis Central pontine myelinolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central pontine myelinolysis -MONDO:0006694 MONDO:equivalentTo ICD10WHO:I67.2 cerebral atherosclerosis Cerebral atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral atherosclerosis -MONDO:0006713 MONDO:equivalentTo ICD10WHO:H16.4 corneal neovascularization Corneal neovascularization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal neovascularization -MONDO:0006771 MONDO:equivalentTo ICD10WHO:K14.0 glossitis Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis -MONDO:0006790 MONDO:equivalentTo ICD10WHO:K03.4 hypercementosis Hypercementosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercementosis -MONDO:0006795 MONDO:equivalentTo ICD10WHO:D73.1 hypersplenism Hypersplenism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersplenism -MONDO:0006796 MONDO:equivalentTo ICD10WHO:I67.4 hypertensive encephalopathy Hypertensive encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive encephalopathy -MONDO:0006798 MONDO:equivalentTo ICD10WHO:E67.0 hypervitaminosis A Hypervitaminosis A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis a -MONDO:0006826 MONDO:equivalentTo ICD10WHO:E40 kwashiorkor Kwashiorkor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kwashiorkor -MONDO:0006830 MONDO:equivalentTo ICD10WHO:N48.0 leukoplakia of penis Leukoplakia of penis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of penis -MONDO:0006844 MONDO:equivalentTo ICD10WHO:E61.2 magnesium deficiency Magnesium deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magnesium deficiency -MONDO:0006861 MONDO:equivalentTo ICD10WHO:C92.3 myeloid sarcoma Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma -MONDO:0006913 MONDO:equivalentTo ICD10WHO:G00.1 pneumococcal meningitis Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis -MONDO:0006916 MONDO:equivalentTo ICD10WHO:K91.5 postcholecystectomy syndrome Postcholecystectomy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postcholecystectomy syndrome -MONDO:0006936 MONDO:equivalentTo ICD10WHO:I37.0 pulmonary valve stenosis Pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve stenosis -MONDO:0006937 MONDO:equivalentTo ICD10WHO:K04.0 pulpitis Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis -MONDO:0006946 MONDO:equivalentTo ICD10WHO:N25.0 renal osteodystrophy Renal osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy -MONDO:0006947 MONDO:equivalentTo ICD10WHO:I15.0 renovascular hypertension Renovascular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension -MONDO:0006952 MONDO:equivalentTo ICD10WHO:H35.1 retinopathy of prematurity Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity -MONDO:0006970 MONDO:equivalentTo ICD10WHO:K11.5 sialolithiasis Sialolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialolithiasis -MONDO:0006977 MONDO:equivalentTo ICD10WHO:N43.4 spermatocele Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele -MONDO:0006982 MONDO:equivalentTo ICD10WHO:E06.1 subacute thyroiditis Subacute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis -MONDO:0006994 MONDO:equivalentTo ICD10WHO:G57.5 tarsal tunnel syndrome Tarsal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal tunnel syndrome -MONDO:0007015 MONDO:equivalentTo ICD10WHO:A87 viral meningitis Viral meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral meningitis -MONDO:0007016 MONDO:equivalentTo ICD10WHO:E50 vitamin A deficiency Vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin a deficiency -MONDO:0007020 MONDO:equivalentTo ICD10WHO:E51.2 Wernicke encephalopathy Wernicke encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wernicke encephalopathy -MONDO:0007032 MONDO:equivalentTo ICD10WHO:Q79.4 prune belly syndrome Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome -MONDO:0007035 MONDO:equivalentTo ICD10WHO:L83 acanthosis nigricans Acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans -MONDO:0007037 MONDO:equivalentTo ICD10WHO:Q77.4 Achondroplasia Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia -MONDO:0007074 MONDO:equivalentTo ICD10WHO:L94.6 ainhum Ainhum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ainhum -MONDO:0007125 MONDO:equivalentTo ICD10WHO:Q38.1 ankyloglossia Ankyloglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloglossia -MONDO:0007243 MONDO:equivalentTo ICD10WHO:C83.7 Burkitt lymphoma Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma -MONDO:0007275 MONDO:equivalentTo ICD10WHO:G56.0 carpal tunnel syndrome Carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome -MONDO:0007338 MONDO:equivalentTo ICD10WHO:Q35.3 cleft soft palate Cleft soft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft soft palate -MONDO:0007416 MONDO:equivalentTo ICD10WHO:N15.0 Balkan nephropathy Balkan nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balkan nephropathy -MONDO:0007529 MONDO:equivalentTo ICD10WHO:L87.2 elastosis perforans serpiginosa Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa -MONDO:0007603 MONDO:equivalentTo ICD10WHO:M05.0 Felty syndrome Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome -MONDO:0007713 MONDO:equivalentTo ICD10WHO:G51.3 clonic hemifacial spasm Clonic hemifacial spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonic hemifacial spasm -MONDO:0007739 MONDO:equivalentTo ICD10WHO:G10 Huntington disease Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease -MONDO:0007741 MONDO:equivalentTo ICD10WHO:Q62.0 congenital hydronephrosis Congenital hydronephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydronephrosis -MONDO:0007745 MONDO:equivalentTo ICD10WHO:E80.4 Gilbert syndrome Gilbert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gilbert syndrome -MONDO:0007835 MONDO:equivalentTo ICD10WHO:K56.1 intussusception Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception -MONDO:0007865 MONDO:equivalentTo ICD10WHO:M72.1 knuckle pads Knuckle pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads -MONDO:0007878 MONDO:equivalentTo ICD10WHO:Q31.5 congenital laryngomalacia Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia -MONDO:0007899 MONDO:equivalentTo ICD10WHO:L90.0 lichen sclerosus et atrophicus Lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen sclerosus et atrophicus -MONDO:0007915 MONDO:equivalentTo ICD10WHO:M32 systemic lupus erythematosus Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus -MONDO:0007921 MONDO:equivalentTo ICD10WHO:L60.5 yellow nail syndrome Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome -MONDO:0007947 MONDO:equivalentTo ICD10WHO:Q87.4 Marfan syndrome Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome -MONDO:0007955 MONDO:equivalentTo ICD10WHO:Q43.0 Meckel diverticulum Meckel diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel diverticulum -MONDO:0008015 MONDO:equivalentTo ICD10WHO:T75.3 motion sickness Motion sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness -MONDO:0008054 MONDO:equivalentTo ICD10WHO:M33.0 juvenile dermatomyositis Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis -MONDO:0008114 MONDO:equivalentTo ICD10WHO:F42 obsessive-compulsive disorder Obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obsessive-compulsive disorder -MONDO:0008159 MONDO:equivalentTo ICD10WHO:M81.0 postmenopausal osteoporosis Postmenopausal osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal osteoporosis -MONDO:0008183 MONDO:equivalentTo ICD10WHO:Q45.1 annular pancreas Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas -MONDO:0008207 MONDO:equivalentTo ICD10WHO:M22.4 chondromalacia patellae Chondromalacia patellae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia patellae -MONDO:0008213 MONDO:equivalentTo ICD10WHO:Q67.6 pectus excavatum Pectus excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum -MONDO:0008219 MONDO:equivalentTo ICD10WHO:L10.0 pemphigus vulgaris Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris -MONDO:0008274 MONDO:equivalentTo ICD10WHO:Q78.1 polyostotic fibrous dysplasia Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia -MONDO:0008320 MONDO:equivalentTo ICD10WHO:M24.7 Protrusio acetabuli Protrusio acetabuli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protrusio acetabuli -MONDO:0008449 MONDO:equivalentTo ICD10WHO:Q05 spina bifida Spina bifida semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida -MONDO:0008475 MONDO:equivalentTo ICD10WHO:M43.1 spondylolisthesis Spondylolisthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolisthesis -MONDO:0008542 MONDO:equivalentTo ICD10WHO:Q21.3 tetralogy of fallot Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot -MONDO:0008585 MONDO:equivalentTo ICD10WHO:O14.2 HELLP syndrome HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome -MONDO:0008599 MONDO:equivalentTo ICD10WHO:G50.0 trigeminal neuralgia Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia -MONDO:0008608 MONDO:equivalentTo ICD10WHO:Q90 Down syndrome Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome -MONDO:0008661 MONDO:equivalentTo ICD10WHO:L80 vitiligo Vitiligo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitiligo -MONDO:0008797 MONDO:equivalentTo ICD10WHO:K00.0 anodontia Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia -MONDO:0009044 MONDO:equivalentTo ICD10WHO:E80.5 Crigler-Najjar syndrome Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome -MONDO:0009061 MONDO:equivalentTo ICD10WHO:E84 cystic fibrosis Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis -MONDO:0009106 MONDO:equivalentTo ICD10WHO:Q06.2 diastematomyelia Diastematomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastematomyelia -MONDO:0009115 MONDO:equivalentTo ICD10WHO:E73.0 congenital lactase deficiency Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency -MONDO:0009144 MONDO:equivalentTo ICD10WHO:Q22.5 Ebstein anomaly Ebstein anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebstein anomaly -MONDO:0009169 MONDO:equivalentTo ICD10WHO:I42.4 endocardial fibroelastosis Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis -MONDO:0009264 MONDO:equivalentTo ICD10WHO:Q79.3 gastroschisis Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis -MONDO:0009326 MONDO:equivalentTo ICD10WHO:Q24.6 congenital heart block Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block -MONDO:0009451 MONDO:equivalentTo ICD10WHO:D81.4 Nezelof syndrome Nezelof syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nezelof syndrome -MONDO:0009688 MONDO:equivalentTo ICD10WHO:G70.0 myasthenia gravis Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis -MONDO:0009691 MONDO:equivalentTo ICD10WHO:C84.0 mycosis fungoides Mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides -MONDO:0009835 MONDO:equivalentTo ICD10WHO:A81.1 subacute sclerosing panencephalitis Subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute sclerosing panencephalitis -MONDO:0010029 MONDO:equivalentTo ICD10WHO:Q89.3 situs inversus Situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label situs inversus -MONDO:0010149 MONDO:equivalentTo ICD10WHO:D51.2 transcobalamin II deficiency Transcobalamin II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin ii deficiency -MONDO:0010298 MONDO:equivalentTo ICD10WHO:E79.1 Lesch-Nyhan syndrome Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome -MONDO:0010518 MONDO:equivalentTo ICD10WHO:D82.0 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome -MONDO:0010528 MONDO:equivalentTo ICD10WHO:R43.0 anosmia Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia -MONDO:0010631 MONDO:equivalentTo ICD10WHO:Q82.3 incontinentia pigmenti Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti -MONDO:0010726 MONDO:equivalentTo ICD10WHO:F84.2 Rett syndrome Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome -MONDO:0010837 MONDO:equivalentTo ICD10WHO:E21.0 primary hyperparathyroidism Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperparathyroidism -MONDO:0010920 MONDO:equivalentTo ICD10WHO:Q17.2 microtia Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia -MONDO:0010947 MONDO:equivalentTo ICD10WHO:I82.0 Budd-Chiari syndrome Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome -MONDO:0011284 MONDO:equivalentTo ICD10WHO:H52.2 astigmatism Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism -MONDO:0011438 MONDO:equivalentTo ICD10WHO:L70 acne Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne -MONDO:0011662 MONDO:equivalentTo ICD10WHO:F63.0 pathological gambling Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling -MONDO:0011827 MONDO:equivalentTo ICD10WHO:Q25.0 patent ductus arteriosus Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus -MONDO:0011989 MONDO:equivalentTo ICD10WHO:B55 leishmaniasis Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis -MONDO:0012155 MONDO:equivalentTo ICD10WHO:Q30.0 choanal atresia Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia -MONDO:0012328 MONDO:equivalentTo ICD10WHO:L72.1 trichilemmal cyst Trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichilemmal cyst -MONDO:0012672 MONDO:equivalentTo ICD10WHO:K80 cholelithiasis Cholelithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholelithiasis -MONDO:0012865 MONDO:equivalentTo ICD10WHO:L73.1 Pseudofolliculitis barbae Pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudofolliculitis barbae -MONDO:0013189 MONDO:equivalentTo ICD10WHO:F63.3 trichotillomania Trichotillomania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichotillomania -MONDO:0015092 MONDO:equivalentTo ICD10WHO:Q35.1 cleft hard palate Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate -MONDO:0015104 MONDO:equivalentTo ICD10WHO:E80.1 porphyria cutanea tarda Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda -MONDO:0015168 MONDO:equivalentTo ICD10WHO:Q74.3 arthrogryposis multiplex congenita Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita -MONDO:0015200 MONDO:equivalentTo ICD10WHO:B81.0 anisakiasis Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis -MONDO:0015260 MONDO:equivalentTo ICD10WHO:B70.0 diphyllobothriasis Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis -MONDO:0015358 MONDO:equivalentTo ICD10WHO:G60.0 hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy -MONDO:0015395 MONDO:equivalentTo ICD10WHO:Q31.1 congenital subglottic stenosis Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis -MONDO:0015469 MONDO:equivalentTo ICD10WHO:Q75.0 craniosynostosis Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis -MONDO:0015474 MONDO:equivalentTo ICD10WHO:A07.2 cryptosporidiosis Cryptosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptosporidiosis -MONDO:0015483 MONDO:equivalentTo ICD10WHO:Q75.4 mandibulofacial dysostosis Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis -MONDO:0015484 MONDO:equivalentTo ICD10WHO:B69 cysticercosis Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis -MONDO:0015486 MONDO:equivalentTo ICD10WHO:H18.6 keratoconus Keratoconus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconus -MONDO:0015496 MONDO:equivalentTo ICD10WHO:Q38.2 macroglossia Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia -MONDO:0015517 MONDO:equivalentTo ICD10WHO:D83 common variable immunodeficiency Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency -MONDO:0015573 MONDO:equivalentTo ICD10WHO:L93.1 subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus -MONDO:0015597 MONDO:equivalentTo ICD10WHO:L40.3 pustulosis palmaris et plantaris Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris -MONDO:0015614 MONDO:equivalentTo ICD10WHO:L13.0 dermatitis herpetiformis Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis -MONDO:0015622 MONDO:equivalentTo ICD10WHO:B87.1 wound myiasis Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis -MONDO:0015661 MONDO:equivalentTo ICD10WHO:Q24.0 dextrocardia Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia -MONDO:0015766 MONDO:equivalentTo ICD10WHO:A00 cholera Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera -MONDO:0016008 MONDO:equivalentTo ICD10WHO:Q86.1 fetal hydantoin syndrome Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome -MONDO:0016020 MONDO:equivalentTo ICD10WHO:Q01.0 frontal encephalocele Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele -MONDO:0016035 MONDO:equivalentTo ICD10WHO:E24.1 Nelson syndrome Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome -MONDO:0016052 MONDO:equivalentTo ICD10WHO:F84.1 atypical autism Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism -MONDO:0016064 MONDO:equivalentTo ICD10WHO:Q35 cleft palate Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate -MONDO:0016075 MONDO:equivalentTo ICD10WHO:B74 filariasis Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis -MONDO:0016122 MONDO:equivalentTo ICD10WHO:G72.3 periodic paralysis Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis -MONDO:0016215 MONDO:equivalentTo ICD10WHO:G80.0 spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic quadriplegic cerebral palsy -MONDO:0016264 MONDO:equivalentTo ICD10WHO:K75.4 autoimmune hepatitis Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis -MONDO:0016295 MONDO:equivalentTo ICD10WHO:E75.4 neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis -MONDO:0016296 MONDO:equivalentTo ICD10WHO:Q04.2 holoprosencephaly Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly -MONDO:0016318 MONDO:equivalentTo ICD10WHO:A81.2 progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy -MONDO:0016349 MONDO:equivalentTo ICD10WHO:Q03 congenital hydrocephalus Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus -MONDO:0016380 MONDO:equivalentTo ICD10WHO:L68.1 acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa -MONDO:0016383 MONDO:equivalentTo ICD10WHO:N25.1 nephrogenic diabetes insipidus Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus -MONDO:0016391 MONDO:equivalentTo ICD10WHO:P70.2 neonatal diabetes mellitus Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus -MONDO:0016472 MONDO:equivalentTo ICD10WHO:B72 dracunculiasis Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis -MONDO:0016530 MONDO:equivalentTo ICD10WHO:Q31.3 laryngocele Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele -MONDO:0016566 MONDO:equivalentTo ICD10WHO:B74.3 loiasis Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis -MONDO:0016567 MONDO:equivalentTo ICD10WHO:G83.5 locked-in syndrome Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome -MONDO:0016608 MONDO:equivalentTo ICD10WHO:Q04.5 megalencephaly Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly -MONDO:0016761 MONDO:equivalentTo ICD10WHO:Q77.7 spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia -MONDO:0016820 MONDO:equivalentTo ICD10WHO:I67.5 Moyamoya disease Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease -MONDO:0016823 MONDO:equivalentTo ICD10WHO:B47 mycetoma Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma -MONDO:0017080 MONDO:equivalentTo ICD10WHO:Q01.2 occipital encephalocele Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele -MONDO:0017137 MONDO:equivalentTo ICD10WHO:B73 onchocerciasis Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis -MONDO:0017178 MONDO:equivalentTo ICD10WHO:M93.2 osteochondritis dissecans Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans -MONDO:0017198 MONDO:equivalentTo ICD10WHO:Q78.2 osteopetrosis Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopetrosis -MONDO:0017319 MONDO:equivalentTo ICD10WHO:D58.1 hereditary elliptocytosis Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis -MONDO:0017361 MONDO:equivalentTo ICD10WHO:P35.0 congenital rubella syndrome Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome -MONDO:0017362 MONDO:equivalentTo ICD10WHO:G54.5 neuralgic amyotrophy Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy -MONDO:0017441 MONDO:equivalentTo ICD10WHO:Q71.1 congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present -MONDO:0017442 MONDO:equivalentTo ICD10WHO:Q72.1 congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present -MONDO:0017443 MONDO:equivalentTo ICD10WHO:Q71.2 congenital absence of both forearm and hand Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand -MONDO:0017444 MONDO:equivalentTo ICD10WHO:Q72.2 congenital absence of both lower leg and foot Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot -MONDO:0017450 MONDO:equivalentTo ICD10WHO:Q72.7 split foot Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot -MONDO:0017610 MONDO:equivalentTo ICD10WHO:Q81.0 epidermolysis bullosa simplex Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex -MONDO:0017776 MONDO:equivalentTo ICD10WHO:A43 nocardiosis Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis -MONDO:0017778 MONDO:equivalentTo ICD10WHO:Q80.2 lamellar ichthyosis Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis -MONDO:0017783 MONDO:equivalentTo ICD10WHO:Q45.2 congenital pancreatic cyst Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst -MONDO:0017865 MONDO:equivalentTo ICD10WHO:Q22.1 congenital pulmonary valve stenosis Congenital pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary valve stenosis -MONDO:0017880 MONDO:equivalentTo ICD10WHO:A92.4 Rift valley fever Rift Valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever -MONDO:0017881 MONDO:equivalentTo ICD10WHO:A98.2 Kyasanur forest disease Kyasanur Forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease -MONDO:0018015 MONDO:equivalentTo ICD10WHO:M12.4 intermittent hydrarthrosis Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis -MONDO:0018056 MONDO:equivalentTo ICD10WHO:L43.1 bullous lichen planus Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus -MONDO:0018059 MONDO:equivalentTo ICD10WHO:A39.0 meningococcal meningitis Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis -MONDO:0018076 MONDO:equivalentTo ICD10WHO:A15-A19 tuberculosis Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis -MONDO:0018089 MONDO:equivalentTo ICD10WHO:Q20.1 double outlet right ventricle Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle -MONDO:0018090 MONDO:equivalentTo ICD10WHO:Q20.2 double outlet left ventricle Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle -MONDO:0018166 MONDO:equivalentTo ICD10WHO:K13.5 oral submucous fibrosis Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis -MONDO:0018181 MONDO:equivalentTo ICD10WHO:L00 staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome -MONDO:0018309 MONDO:equivalentTo ICD10WHO:Q43.1 Hirschsprung disease Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease -MONDO:0018312 MONDO:equivalentTo ICD10WHO:B39 histoplasmosis Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis -MONDO:0018326 MONDO:equivalentTo ICD10WHO:P94.0 transient neonatal myasthenia gravis Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis -MONDO:0018683 MONDO:equivalentTo ICD10WHO:L85.0 acquired ichthyosis Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis -MONDO:0018747 MONDO:equivalentTo ICD10WHO:L12.3 acquired epidermolysis bullosa Acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired epidermolysis bullosa -MONDO:0018769 MONDO:equivalentTo ICD10WHO:A07.3 isosporiasis Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis -MONDO:0018815 MONDO:equivalentTo ICD10WHO:M85.5 aneurysmal bone cyst Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst -MONDO:0018824 MONDO:equivalentTo ICD10WHO:L88 pyoderma gangrenosum Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum -MONDO:0018876 MONDO:equivalentTo ICD10WHO:C83.1 mantle cell lymphoma Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma -MONDO:0018879 MONDO:equivalentTo ICD10WHO:L66.1 lichen planopilaris Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris -MONDO:0018905 MONDO:equivalentTo ICD10WHO:C83.3 diffuse large B-cell lymphoma Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma -MONDO:0018906 MONDO:equivalentTo ICD10WHO:C82 follicular lymphoma Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma -MONDO:0018912 MONDO:equivalentTo ICD10WHO:E24 Cushing syndrome Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cushing syndrome -MONDO:0018968 MONDO:equivalentTo ICD10WHO:Q00.2 iniencephaly Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly -MONDO:0018969 MONDO:equivalentTo ICD10WHO:Q00.1 craniorachischisis Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis -MONDO:0019019 MONDO:equivalentTo ICD10WHO:Q78.0 osteogenesis imperfecta Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta -MONDO:0019064 MONDO:equivalentTo ICD10WHO:G11.4 hereditary spastic paraplegia Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia -MONDO:0019065 MONDO:equivalentTo ICD10WHO:E85 amyloidosis Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis -MONDO:0019082 MONDO:equivalentTo ICD10WHO:L12.0 bullous pemphigoid Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid -MONDO:0019084 MONDO:equivalentTo ICD10WHO:K62.7 radiation proctitis Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis -MONDO:0019095 MONDO:equivalentTo ICD10WHO:A20 plague Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague -MONDO:0019121 MONDO:equivalentTo ICD10WHO:B48.5 pneumocystosis Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis -MONDO:0019124 MONDO:equivalentTo ICD10WHO:M31.7 microscopic polyangiitis Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis -MONDO:0019125 MONDO:equivalentTo ICD10WHO:M94.1 relapsing polychondritis Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis -MONDO:0019127 MONDO:equivalentTo ICD10WHO:M33.2 polymyositis Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis -MONDO:0019136 MONDO:equivalentTo ICD10WHO:B46 Zygomycosis Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis -MONDO:0019147 MONDO:equivalentTo ICD10WHO:B87 myiasis Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis -MONDO:0019170 MONDO:equivalentTo ICD10WHO:M30.0 polyarteritis nodosa Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa -MONDO:0019173 MONDO:equivalentTo ICD10WHO:A82 rabies Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies -MONDO:0019186 MONDO:equivalentTo ICD10WHO:A78 Q fever Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever -MONDO:0019209 MONDO:equivalentTo ICD10WHO:A83.0 Japanese encephalitis Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis -MONDO:0019280 MONDO:equivalentTo ICD10WHO:L68 hypertrichosis Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis -MONDO:0019322 MONDO:equivalentTo ICD10WHO:L10.1 pemphigus vegetans Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans -MONDO:0019323 MONDO:equivalentTo ICD10WHO:L10.4 pemphigus erythematosus Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus -MONDO:0019324 MONDO:equivalentTo ICD10WHO:L10.2 pemphigus foliaceus Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus -MONDO:0019338 MONDO:equivalentTo ICD10WHO:D86 sarcoidosis Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis -MONDO:0019345 MONDO:equivalentTo ICD10WHO:A03 shigellosis Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis -MONDO:0019350 MONDO:equivalentTo ICD10WHO:D58.0 hereditary spherocytosis Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis -MONDO:0019355 MONDO:equivalentTo ICD10WHO:M06.1 adult-onset Still disease Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease -MONDO:0019372 MONDO:equivalentTo ICD10WHO:M85.4 solitary bone cyst Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst -MONDO:0019380 MONDO:equivalentTo ICD10WHO:A83.1 western equine encephalitis Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis -MONDO:0019444 MONDO:equivalentTo ICD10WHO:B75 trichinellosis Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis -MONDO:0019455 MONDO:equivalentTo ICD10WHO:C94.4 acute panmyelosis with myelofibrosis Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis -MONDO:0019474 MONDO:equivalentTo ICD10WHO:C86.1 hepatosplenic T-cell lymphoma Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma -MONDO:0019475 MONDO:equivalentTo ICD10WHO:C86.3 subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma -MONDO:0019479 MONDO:equivalentTo ICD10WHO:C96.8 histiocytic sarcoma Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma -MONDO:0019499 MONDO:equivalentTo ICD10WHO:Q96 Turner syndrome Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome -MONDO:0019514 MONDO:equivalentTo ICD10WHO:K76.5 hepatic veno-occlusive disease Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease -MONDO:0019526 MONDO:equivalentTo ICD10WHO:L95.1 erythema elevatum diutinum Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum -MONDO:0019558 MONDO:equivalentTo ICD10WHO:L93.0 discoid lupus erythematosus Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus -MONDO:0019600 MONDO:equivalentTo ICD10WHO:Q82.1 xeroderma pigmentosum Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum -MONDO:0019632 MONDO:equivalentTo ICD10WHO:A69.2 Lyme disease Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease -MONDO:0019636 MONDO:equivalentTo ICD10WHO:Q60.0 renal agenesis, unilateral Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral -MONDO:0019638 MONDO:equivalentTo ICD10WHO:Q61.4 renal dysplasia Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia -MONDO:0019648 MONDO:equivalentTo ICD10WHO:Q77.0 achondrogenesis Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis -MONDO:0019701 MONDO:equivalentTo ICD10WHO:Q77.3 chondrodysplasia punctata Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata -MONDO:0019735 MONDO:equivalentTo ICD10WHO:M35.3 polymyalgia rheumatica Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica -MONDO:0019737 MONDO:equivalentTo ICD10WHO:M31.1 thrombotic microangiopathy Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy -MONDO:0019759 MONDO:equivalentTo ICD10WHO:Q64.0 epispadias Epispadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epispadias -MONDO:0019813 MONDO:equivalentTo ICD10WHO:Q22.4 congenital tricuspid stenosis Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis -MONDO:0019945 MONDO:equivalentTo ICD10WHO:L56.3 solar urticaria Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria -MONDO:0019979 MONDO:equivalentTo ICD10WHO:Q60.3 renal hypoplasia, unilateral Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral -MONDO:0019980 MONDO:equivalentTo ICD10WHO:Q60.4 renal hypoplasia, bilateral Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral -MONDO:0019992 MONDO:equivalentTo ICD10WHO:E20.1 pseudohypoparathyroidism Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism -MONDO:0019993 MONDO:equivalentTo ICD10WHO:Q27.1 congenital renal artery stenosis Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis -MONDO:0020066 MONDO:equivalentTo ICD10WHO:Q79.6 Ehlers-Danlos syndrome Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome -MONDO:0020121 MONDO:equivalentTo ICD10WHO:G71.0 muscular dystrophy Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy -MONDO:0020159 MONDO:equivalentTo ICD10WHO:Q10.2 congenital entropion Congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital entropion -MONDO:0020161 MONDO:equivalentTo ICD10WHO:Q10.1 congenital ectropion Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion -MONDO:0020291 MONDO:equivalentTo ICD10WHO:Q22.6 hypoplastic right heart syndrome Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome -MONDO:0020356 MONDO:equivalentTo ICD10WHO:Q13.0 coloboma of iris Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris -MONDO:0020366 MONDO:equivalentTo ICD10WHO:Q15.0 congenital glaucoma Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma -MONDO:0020398 MONDO:equivalentTo ICD10WHO:Q23.2 congenital mitral stenosis Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis -MONDO:0020502 MONDO:equivalentTo ICD10WHO:A95 yellow fever Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever -MONDO:0020548 MONDO:equivalentTo ICD10WHO:H13.3 ocular pemphigoid Ocular pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular pemphigoid -MONDO:0020568 MONDO:equivalentTo ICD10WHO:B87.0 cutaneous myiasis Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis -MONDO:0020599 MONDO:equivalentTo ICD10WHO:D68.4 acquired coagulation factor deficiency Acquired coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired coagulation factor deficiency -MONDO:0020600 MONDO:equivalentTo ICD10WHO:J02 acute pharyngitis Acute pharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pharyngitis -MONDO:0020601 MONDO:equivalentTo ICD10WHO:A83 mosquito-borne viral encephalitis Mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosquito-borne viral encephalitis -MONDO:0020655 MONDO:equivalentTo ICD10WHO:M08.1 juvenile ankylosing spondylitis Juvenile ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile ankylosing spondylitis -MONDO:0020680 MONDO:equivalentTo ICD10WHO:J21 acute bronchiolitis Acute bronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bronchiolitis -MONDO:0020686 MONDO:equivalentTo ICD10WHO:J03 acute tonsillitis Acute tonsillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tonsillitis -MONDO:0020782 MONDO:equivalentTo ICD10WHO:K05.1 chronic gingivitis Chronic gingivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic gingivitis -MONDO:0020863 MONDO:equivalentTo ICD10WHO:A36.2 laryngeal diphtheria Laryngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal diphtheria -MONDO:0020866 MONDO:equivalentTo ICD10WHO:A36.1 nasopharyngeal diphtheria Nasopharyngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal diphtheria -MONDO:0021002 MONDO:equivalentTo ICD10WHO:Q70 syndactyly Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly -MONDO:0021003 MONDO:equivalentTo ICD10WHO:Q69 polydactyly Polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly -MONDO:0021124 MONDO:equivalentTo ICD10WHO:N97 female infertility Female infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility -MONDO:0021377 MONDO:equivalentTo ICD10WHO:L43.0 hypertrophic lichen planus Hypertrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic lichen planus -MONDO:0021394 MONDO:equivalentTo ICD10WHO:N84.2 polyp of vagina Polyp of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vagina -MONDO:0021396 MONDO:equivalentTo ICD10WHO:N84.3 polyp of vulva Polyp of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vulva -MONDO:0021400 MONDO:equivalentTo ICD10WHO:K63.5 polyp of colon Polyp of colon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of colon -MONDO:0021527 MONDO:equivalentTo ICD10WHO:D32 benign neoplasm of meninges Benign neoplasm of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign neoplasm of meninges -MONDO:0021642 MONDO:equivalentTo ICD10WHO:I86.3 vulval varices Vulval varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulval varices -MONDO:0021723 MONDO:equivalentTo ICD10WHO:N94.2 vaginismus Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus -MONDO:0021750 MONDO:equivalentTo ICD10WHO:N13.6 pyonephrosis Pyonephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyonephrosis -MONDO:0022096 MONDO:equivalentTo ICD10WHO:L98.0 pyogenic granuloma Pyogenic granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic granuloma -MONDO:0022103 MONDO:equivalentTo ICD10WHO:N41.1 chronic prostatitis Chronic prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic prostatitis -MONDO:0022171 MONDO:equivalentTo ICD10WHO:L75.1 chromhidrosis Chromhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromhidrosis -MONDO:0023011 MONDO:equivalentTo ICD10WHO:P27.0 Wilson-Mikity syndrome Wilson-Mikity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-mikity syndrome -MONDO:0023297 MONDO:equivalentTo ICD10WHO:L40.4 guttate psoriasis Guttate psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttate psoriasis -MONDO:0024228 MONDO:equivalentTo ICD10WHO:L74.2 miliaria profunda Miliaria profunda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria profunda -MONDO:0024229 MONDO:equivalentTo ICD10WHO:L74.1 miliaria crystallina Miliaria crystallina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria crystallina -MONDO:0024302 MONDO:equivalentTo ICD10WHO:B83.4 internal hirudiniasis Internal hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internal hirudiniasis -MONDO:0024303 MONDO:equivalentTo ICD10WHO:B88.3 external hirudiniasis External hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external hirudiniasis -MONDO:0024304 MONDO:equivalentTo ICD10WHO:Q80.0 ichthyosis vulgaris Ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris -MONDO:0024333 MONDO:equivalentTo ICD10WHO:M54.3 sciatica Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica -MONDO:0024349 MONDO:equivalentTo ICD10WHO:L30.5 pityriasis alba Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba -MONDO:0024647 MONDO:equivalentTo ICD10WHO:N20-N23 urolithiasis Urolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urolithiasis -MONDO:0024650 MONDO:equivalentTo ICD10WHO:M81.4 drug-induced osteoporosis Drug-induced osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced osteoporosis -MONDO:0024652 MONDO:equivalentTo ICD10WHO:Q50.4 embryonic cyst of fallopian tube Embryonic cyst of fallopian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonic cyst of fallopian tube -MONDO:0026045 MONDO:equivalentTo ICD10WHO:L28.1 prurigo nodularis Prurigo nodularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prurigo nodularis -MONDO:0040925 MONDO:equivalentTo ICD10WHO:A66.8 latent yaws Latent yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label latent yaws -MONDO:0041086 MONDO:equivalentTo ICD10WHO:F41.2 mixed anxiety and depressive disorder Mixed anxiety and depressive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed anxiety and depressive disorder -MONDO:0041366 MONDO:equivalentTo ICD10WHO:J05.1 acute epiglottitis Acute epiglottitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute epiglottitis -MONDO:0042484 MONDO:equivalentTo ICD10WHO:B42.7 disseminated sporotrichosis Disseminated sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated sporotrichosis -MONDO:0043209 MONDO:equivalentTo ICD10WHO:E70.3 albinism Albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label albinism -MONDO:0043224 MONDO:equivalentTo ICD10WHO:F01.1 multi-infarct dementia Multi-infarct dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multi-infarct dementia -MONDO:0043233 MONDO:equivalentTo ICD10WHO:L26 exfoliative dermatitis Exfoliative dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative dermatitis -MONDO:0043237 MONDO:equivalentTo ICD10WHO:K14.6 glossodynia Glossodynia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossodynia -MONDO:0043267 MONDO:equivalentTo ICD10WHO:M05.2 rheumatoid vasculitis Rheumatoid vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid vasculitis -MONDO:0043294 MONDO:equivalentTo ICD10WHO:L94.1 linear scleroderma Linear scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear scleroderma -MONDO:0043310 MONDO:equivalentTo ICD10WHO:G45.3 amaurosis fugax Amaurosis fugax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis fugax -MONDO:0043327 MONDO:equivalentTo ICD10WHO:G96.0 cerebrospinal fluid leak Cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrospinal fluid leak -MONDO:0043468 MONDO:equivalentTo ICD10WHO:L73.0 acne keloid Acne keloid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne keloid -MONDO:0043537 MONDO:equivalentTo ICD10WHO:G44.0 cluster headache syndrome Cluster headache syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cluster headache syndrome -MONDO:0043541 MONDO:equivalentTo ICD10WHO:B30 viral conjunctivitis Viral conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral conjunctivitis -MONDO:0043762 MONDO:equivalentTo ICD10WHO:O00.1 tubal pregnancy Tubal pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubal pregnancy -MONDO:0043765 MONDO:equivalentTo ICD10WHO:H91.1 presbycusis Presbycusis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbycusis -MONDO:0043771 MONDO:equivalentTo ICD10WHO:L58 radiodermatitis Radiodermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiodermatitis -MONDO:0043777 MONDO:equivalentTo ICD10WHO:L71.1 rhinophyma Rhinophyma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinophyma -MONDO:0043783 MONDO:equivalentTo ICD10WHO:P83.0 sclerema neonatorum Sclerema neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerema neonatorum -MONDO:0043975 MONDO:equivalentTo ICD10WHO:G90.4 autonomic dysreflexia Autonomic dysreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autonomic dysreflexia -MONDO:0043994 MONDO:equivalentTo ICD10WHO:K81.0 acute cholecystitis Acute cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cholecystitis -MONDO:0044014 MONDO:equivalentTo ICD10WHO:O90.5 postpartum thyroiditis Postpartum thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum thyroiditis -MONDO:0044211 MONDO:equivalentTo ICD10WHO:L50.1 idiopathic urticaria Idiopathic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic urticaria -MONDO:0044778 MONDO:equivalentTo ICD10WHO:C81.0 nodular lymphocyte predominant Hodgkin lymphoma Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma -MONDO:0044983 MONDO:equivalentTo ICD10WHO:D17 benign lipomatous neoplasm Benign lipomatous neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign lipomatous neoplasm -MONDO:0060766 MONDO:equivalentTo ICD10WHO:K62.0 anal polyp Anal polyp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal polyp -MONDO:0100017 MONDO:equivalentTo ICD10WHO:L44.0 pityriasis rubra pilaris Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris -MONDO:0100076 MONDO:equivalentTo ICD10WHO:M41.1 juvenile idiopathic scoliosis Juvenile idiopathic scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic scoliosis -MONDO:0100309 MONDO:equivalentTo ICD10WHO:G11 hereditary ataxia Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia -MONDO:0100345 MONDO:equivalentTo ICD10WHO:E73 lactose intolerance Lactose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactose intolerance -MONDO:0100347 MONDO:equivalentTo ICD10WHO:E34.0 carcinoid syndrome Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome -MONDO:0100471 MONDO:equivalentTo ICD10WHO:E55 vitamin D deficiency Vitamin D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin d deficiency -MONDO:0100491 MONDO:equivalentTo ICD10WHO:L40.1 generalized pustular psoriasis Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis -MONDO:0400003 MONDO:equivalentTo ICD10WHO:M85.1 skeletal fluorosis Skeletal fluorosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal fluorosis -MONDO:0800175 MONDO:equivalentTo ICD10WHO:R57.0 cardiogenic shock Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock -MONDO:0800177 MONDO:equivalentTo ICD10WHO:T33-T35 frostbite Frostbite semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frostbite -MONDO:0800198 MONDO:equivalentTo ICD10WHO:L63.1 alopecia universalis Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis -MONDO:0850046 MONDO:equivalentTo ICD10WHO:O88.1 amniotic fluid embolism Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism -MONDO:0850231 MONDO:equivalentTo ICD10WHO:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum -MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid -MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0000158 MONDO:equivalentTo DOID:0060930 developmental dysplasia of the hip developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:142700 -MONDO:0007628 MONDO:equivalentTo DOID:0070530 foveal hypoplasia 1 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136520 -MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c537835 -MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 -MONDO:0007729 MONDO:equivalentTo DOID:0060931 developmental dysplasia of the hip 1 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:142700 -MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:149730 -MONDO:0007909 MONDO:equivalentTo DOID:0070518 familial multiple lipomatosis familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:d000071070 -MONDO:0007909 MONDO:equivalentTo DOID:0070518 familial multiple lipomatosis familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:151900 -MONDO:0008164 MONDO:equivalentTo DOID:0060920 otosclerosis 1 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:166800 -MONDO:0008672 MONDO:equivalentTo DOID:0070483 Watson syndrome Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 -MONDO:0009726 MONDO:equivalentTo DOID:0060913 proteosome-associated autoinflammatory syndrome proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:256040 -MONDO:0010209 MONDO:equivalentTo DOID:0070452 xanthinuria type I xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 -MONDO:0010857 MONDO:equivalentTo DOID:0081391 semantic dementia semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia -MONDO:0011346 MONDO:equivalentTo DOID:0070453 xanthinuria type II xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 -MONDO:0011586 MONDO:equivalentTo DOID:0060921 otosclerosis 2 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605727 -MONDO:0011937 MONDO:equivalentTo DOID:0070523 peeling skin syndrome 4 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c564309 -MONDO:0011937 MONDO:equivalentTo DOID:0070523 peeling skin syndrome 4 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607936 -MONDO:0011999 MONDO:equivalentTo DOID:0060922 otosclerosis 3 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608244 -MONDO:0012121 MONDO:equivalentTo DOID:0060924 otosclerosis 5 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608787 -MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c567020 -MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611087 -MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c548032 -MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 -MONDO:0012696 MONDO:equivalentTo DOID:0060923 otosclerosis 4 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611571 -MONDO:0012697 MONDO:equivalentTo DOID:0060925 otosclerosis 7 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611572 -MONDO:0012797 MONDO:equivalentTo DOID:0060926 otosclerosis 8 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:612096 -MONDO:0014264 MONDO:equivalentTo DOID:0060927 otosclerosis 10 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615589 -MONDO:0014277 MONDO:equivalentTo DOID:0060932 developmental dysplasia of the hip 2 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615612 -MONDO:0014299 MONDO:equivalentTo DOID:0070481 schwannomatosis 2 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 -MONDO:0014923 MONDO:equivalentTo DOID:0070524 peeling skin syndrome 5 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617115 -MONDO:0014946 MONDO:equivalentTo DOID:0070529 Sifrim-Hitz-Weiss syndrome Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617159 -MONDO:0014958 MONDO:equivalentTo DOID:0081395 Harel-Yoon syndrome Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617183 -MONDO:0015059 MONDO:equivalentTo DOID:0081390 progressive non-fluent aphasia progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia -MONDO:0016644 MONDO:equivalentTo DOID:0081389 logopenic progressive aphasia logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia -MONDO:0018808 MONDO:equivalentTo DOID:0081394 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome -MONDO:0019806 MONDO:equivalentTo DOID:0081388 primary progressive aphasia primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia -MONDO:0020310 MONDO:equivalentTo DOID:0081420 familial focal epilepsy with variable foci familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:604364 -MONDO:0020730 MONDO:equivalentTo DOID:0070466 carpal tunnel syndrome 1 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 -MONDO:0024507 MONDO:equivalentTo DOID:0070532 aniridia 1 aniridia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:106210 -MONDO:0024517 MONDO:equivalentTo DOID:0070480 schwannomatosis 1 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 -MONDO:0024548 MONDO:equivalentTo DOID:0070520 peeling skin syndrome 1 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:270300 -MONDO:0030020 MONDO:equivalentTo DOID:0070424 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 -MONDO:0030073 MONDO:equivalentTo DOID:0070516 Mitchell syndrome Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618960 -MONDO:0030311 MONDO:equivalentTo DOID:0070425 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 -MONDO:0030378 MONDO:equivalentTo DOID:0070426 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 -MONDO:0030543 MONDO:equivalentTo DOID:0070427 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 -MONDO:0030883 MONDO:equivalentTo DOID:0070467 carpal tunnel syndrome 2 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161 -MONDO:0032815 MONDO:equivalentTo DOID:0070448 mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 -MONDO:0032932 MONDO:equivalentTo DOID:0070449 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 -MONDO:0033545 MONDO:equivalentTo DOID:0070450 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 -MONDO:0033618 MONDO:equivalentTo DOID:0081397 Vissers-Bodmer syndrome Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619033 -MONDO:0044315 MONDO:equivalentTo DOID:0060912 craniosynostosis 7 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617439 -MONDO:0054560 MONDO:equivalentTo DOID:0050640 anauxetic dysplasia 1 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 -MONDO:0054699 MONDO:equivalentTo DOID:0060916 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617591 -MONDO:0054835 MONDO:equivalentTo DOID:0070489 classic dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613135 -MONDO:0054852 MONDO:equivalentTo DOID:0070525 peeling skin syndrome 6 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618084 -MONDO:0060596 MONDO:equivalentTo DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617755 -MONDO:0700200 MONDO:equivalentTo DOID:0070488 atypical dopamine transporter deficiency syndrome atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome -MONDO:0859152 MONDO:equivalentTo DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 -MONDO:0859179 MONDO:equivalentTo DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 -MONDO:0859209 MONDO:equivalentTo DOID:0070473 Zaki syndrome Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619648 -MONDO:0859221 MONDO:equivalentTo DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 -MONDO:0859228 MONDO:equivalentTo DOID:0070428 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 -MONDO:0859256 MONDO:equivalentTo DOID:0070444 neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 -MONDO:0859295 MONDO:equivalentTo DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 -MONDO:0859323 MONDO:equivalentTo DOID:0070429 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 -MONDO:0859337 MONDO:equivalentTo DOID:0070430 combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 -MONDO:0859355 MONDO:equivalentTo DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620199 -MONDO:0859577 MONDO:equivalentTo DOID:0081371 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 -MONDO:0859578 MONDO:equivalentTo DOID:0081372 lacrimoauriculodentodigital syndrome 3 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 -MONDO:0957215 MONDO:equivalentTo DOID:0081352 congenital myopathy 20 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 -MONDO:0957248 MONDO:equivalentTo DOID:0070376 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 -MONDO:0957386 MONDO:equivalentTo DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620428 -MONDO:0957583 MONDO:equivalentTo DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620489 -MONDO:0957870 MONDO:equivalentTo DOID:0070373 leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620312 -MONDO:0957871 MONDO:equivalentTo DOID:0070372 leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620313 -MONDO:0957872 MONDO:equivalentTo DOID:0070371 leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620314 -MONDO:0957873 MONDO:equivalentTo DOID:0070367 leukoencephalopathy with vanishing white matter 5 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620315 -MONDO:0957928 MONDO:equivalentTo DOID:0060928 otosclerosis 11 otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620576 -MONDO:0001633 MONDO:equivalentTo Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion -MONDO:0004672 MONDO:equivalentTo Orphanet:658909 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis -MONDO:0005705 MONDO:equivalentTo Orphanet:658917 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis -MONDO:0005895 MONDO:equivalentTo Orphanet:658913 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis -MONDO:0008136 MONDO:equivalentTo Orphanet:637061 isolated optic nerve hypoplasia Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia -MONDO:0014563 MONDO:equivalentTo Orphanet:653880 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency -MONDO:0041186 MONDO:equivalentTo Orphanet:658584 Rowell syndrome Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome +MONDO:0018875 MONDO:equivalentTo OMIMPS:151623 Li-Fraumeni syndrome Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome MONDO:0000022 MONDO:equivalentTo ICD10CM:N39.44 nocturnal enuresis Nocturnal enuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocturnal enuresis MONDO:0000190 MONDO:equivalentTo ICD10CM:I49.01 ventricular fibrillation Ventricular fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular fibrillation MONDO:0000397 MONDO:equivalentTo ICD10CM:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy @@ -1227,8 +401,13 @@ MONDO:0800198 MONDO:equivalentTo ICD10CM:L63.1 alopecia universalis Alopecia uni MONDO:0850231 MONDO:equivalentTo ICD10CM:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0002010 MONDO:equivalentTo OMIMPS:305450 FG syndrome FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome -MONDO:0018875 MONDO:equivalentTo OMIMPS:151623 Li-Fraumeni syndrome Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0001633 MONDO:equivalentTo Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion +MONDO:0004672 MONDO:equivalentTo Orphanet:658909 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis +MONDO:0005705 MONDO:equivalentTo Orphanet:658917 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis +MONDO:0005895 MONDO:equivalentTo Orphanet:658913 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis +MONDO:0008136 MONDO:equivalentTo Orphanet:637061 isolated optic nerve hypoplasia Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia +MONDO:0014563 MONDO:equivalentTo Orphanet:653880 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency +MONDO:0041186 MONDO:equivalentTo Orphanet:658584 Rowell syndrome Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis MONDO:0017289 MONDO:equivalentTo NCIT:C190105 fetal lung interstitial tumor Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor @@ -1271,3 +450,824 @@ MONDO:0859598 MONDO:equivalentTo NCIT:C7152 erythroleukemia Erythroleukemia sema MONDO:0859747 MONDO:equivalentTo NCIT:C7931 grade I lymphomatoid granulomatosis Grade I Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade i lymphomatoid granulomatosis MONDO:0859748 MONDO:equivalentTo NCIT:C7932 grade II lymphomatoid granulomatosis Grade II Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade ii lymphomatoid granulomatosis MONDO:0859749 MONDO:equivalentTo NCIT:C7933 grade III lymphomatoid granulomatosis Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade iii lymphomatoid granulomatosis +MONDO:0000158 MONDO:equivalentTo DOID:0060930 developmental dysplasia of the hip developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:142700 +MONDO:0007628 MONDO:equivalentTo DOID:0070530 foveal hypoplasia 1 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136520 +MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c537835 +MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 +MONDO:0007729 MONDO:equivalentTo DOID:0060931 developmental dysplasia of the hip 1 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:142700 +MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:149730 +MONDO:0007909 MONDO:equivalentTo DOID:0070518 familial multiple lipomatosis familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:d000071070 +MONDO:0007909 MONDO:equivalentTo DOID:0070518 familial multiple lipomatosis familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:151900 +MONDO:0008164 MONDO:equivalentTo DOID:0060920 otosclerosis 1 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:166800 +MONDO:0008672 MONDO:equivalentTo DOID:0070483 Watson syndrome Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 +MONDO:0009726 MONDO:equivalentTo DOID:0060913 proteosome-associated autoinflammatory syndrome proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:256040 +MONDO:0010209 MONDO:equivalentTo DOID:0070452 xanthinuria type I xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 +MONDO:0010857 MONDO:equivalentTo DOID:0081391 semantic dementia semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia +MONDO:0011346 MONDO:equivalentTo DOID:0070453 xanthinuria type II xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 +MONDO:0011586 MONDO:equivalentTo DOID:0060921 otosclerosis 2 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605727 +MONDO:0011937 MONDO:equivalentTo DOID:0070523 peeling skin syndrome 4 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c564309 +MONDO:0011937 MONDO:equivalentTo DOID:0070523 peeling skin syndrome 4 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607936 +MONDO:0011999 MONDO:equivalentTo DOID:0060922 otosclerosis 3 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608244 +MONDO:0012121 MONDO:equivalentTo DOID:0060924 otosclerosis 5 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608787 +MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c567020 +MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611087 +MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c548032 +MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 +MONDO:0012696 MONDO:equivalentTo DOID:0060923 otosclerosis 4 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611571 +MONDO:0012697 MONDO:equivalentTo DOID:0060925 otosclerosis 7 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611572 +MONDO:0012797 MONDO:equivalentTo DOID:0060926 otosclerosis 8 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:612096 +MONDO:0014264 MONDO:equivalentTo DOID:0060927 otosclerosis 10 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615589 +MONDO:0014277 MONDO:equivalentTo DOID:0060932 developmental dysplasia of the hip 2 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615612 +MONDO:0014299 MONDO:equivalentTo DOID:0070481 schwannomatosis 2 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 +MONDO:0014923 MONDO:equivalentTo DOID:0070524 peeling skin syndrome 5 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617115 +MONDO:0014946 MONDO:equivalentTo DOID:0070529 Sifrim-Hitz-Weiss syndrome Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617159 +MONDO:0014958 MONDO:equivalentTo DOID:0081395 Harel-Yoon syndrome Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617183 +MONDO:0015059 MONDO:equivalentTo DOID:0081390 progressive non-fluent aphasia progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia +MONDO:0016644 MONDO:equivalentTo DOID:0081389 logopenic progressive aphasia logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia +MONDO:0018808 MONDO:equivalentTo DOID:0081394 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome +MONDO:0019806 MONDO:equivalentTo DOID:0081388 primary progressive aphasia primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia +MONDO:0020310 MONDO:equivalentTo DOID:0081420 familial focal epilepsy with variable foci familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:604364 +MONDO:0020730 MONDO:equivalentTo DOID:0070466 carpal tunnel syndrome 1 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 +MONDO:0024507 MONDO:equivalentTo DOID:0070532 aniridia 1 aniridia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:106210 +MONDO:0024517 MONDO:equivalentTo DOID:0070480 schwannomatosis 1 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 +MONDO:0024548 MONDO:equivalentTo DOID:0070520 peeling skin syndrome 1 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:270300 +MONDO:0030020 MONDO:equivalentTo DOID:0070424 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 +MONDO:0030073 MONDO:equivalentTo DOID:0070516 Mitchell syndrome Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618960 +MONDO:0030311 MONDO:equivalentTo DOID:0070425 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 +MONDO:0030378 MONDO:equivalentTo DOID:0070426 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 +MONDO:0030543 MONDO:equivalentTo DOID:0070427 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 +MONDO:0030883 MONDO:equivalentTo DOID:0070467 carpal tunnel syndrome 2 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161 +MONDO:0032815 MONDO:equivalentTo DOID:0070448 mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 +MONDO:0032932 MONDO:equivalentTo DOID:0070449 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 +MONDO:0033545 MONDO:equivalentTo DOID:0070450 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 +MONDO:0033618 MONDO:equivalentTo DOID:0081397 Vissers-Bodmer syndrome Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619033 +MONDO:0044315 MONDO:equivalentTo DOID:0060912 craniosynostosis 7 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617439 +MONDO:0054560 MONDO:equivalentTo DOID:0050640 anauxetic dysplasia 1 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 +MONDO:0054699 MONDO:equivalentTo DOID:0060916 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617591 +MONDO:0054835 MONDO:equivalentTo DOID:0070489 classic dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613135 +MONDO:0054852 MONDO:equivalentTo DOID:0070525 peeling skin syndrome 6 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618084 +MONDO:0060596 MONDO:equivalentTo DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617755 +MONDO:0700200 MONDO:equivalentTo DOID:0070488 atypical dopamine transporter deficiency syndrome atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome +MONDO:0859152 MONDO:equivalentTo DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 +MONDO:0859179 MONDO:equivalentTo DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 +MONDO:0859209 MONDO:equivalentTo DOID:0070473 Zaki syndrome Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619648 +MONDO:0859221 MONDO:equivalentTo DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 +MONDO:0859228 MONDO:equivalentTo DOID:0070428 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 +MONDO:0859256 MONDO:equivalentTo DOID:0070444 neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 +MONDO:0859295 MONDO:equivalentTo DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 +MONDO:0859323 MONDO:equivalentTo DOID:0070429 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 +MONDO:0859337 MONDO:equivalentTo DOID:0070430 combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 +MONDO:0859355 MONDO:equivalentTo DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620199 +MONDO:0859577 MONDO:equivalentTo DOID:0081371 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 +MONDO:0859578 MONDO:equivalentTo DOID:0081372 lacrimoauriculodentodigital syndrome 3 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 +MONDO:0957215 MONDO:equivalentTo DOID:0081352 congenital myopathy 20 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 +MONDO:0957248 MONDO:equivalentTo DOID:0070376 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 +MONDO:0957386 MONDO:equivalentTo DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620428 +MONDO:0957583 MONDO:equivalentTo DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620489 +MONDO:0957870 MONDO:equivalentTo DOID:0070373 leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620312 +MONDO:0957871 MONDO:equivalentTo DOID:0070372 leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620313 +MONDO:0957872 MONDO:equivalentTo DOID:0070371 leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620314 +MONDO:0957873 MONDO:equivalentTo DOID:0070367 leukoencephalopathy with vanishing white matter 5 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620315 +MONDO:0957928 MONDO:equivalentTo DOID:0060928 otosclerosis 11 otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620576 +MONDO:0958184 MONDO:equivalentTo DOID:0081359 epidermolytic hyperkeratosis 2 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620150 +MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty +MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata +MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis +MONDO:0000397 MONDO:equivalentTo ICD10WHO:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy +MONDO:0000495 MONDO:equivalentTo ICD10WHO:F91.3 oppositional defiant disorder Oppositional defiant disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oppositional defiant disorder +MONDO:0000665 MONDO:equivalentTo ICD10WHO:R48.2 apraxia Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia +MONDO:0000745 MONDO:equivalentTo ICD10WHO:I46 cardiac arrest Cardiac arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest +MONDO:0000754 MONDO:equivalentTo ICD10WHO:K60.3 anal fistula Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula +MONDO:0000755 MONDO:equivalentTo ICD10WHO:O00 ectopic pregnancy Ectopic pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic pregnancy +MONDO:0000819 MONDO:equivalentTo ICD10WHO:Q00.0 anencephaly Anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anencephaly +MONDO:0000859 MONDO:equivalentTo ICD10WHO:Q76.0 spina bifida occulta Spina bifida occulta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida occulta +MONDO:0000889 MONDO:equivalentTo ICD10WHO:G00.0 haemophilus meningitis Haemophilus meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haemophilus meningitis +MONDO:0000923 MONDO:equivalentTo ICD10WHO:J98.2 interstitial emphysema Interstitial emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial emphysema +MONDO:0000924 MONDO:equivalentTo ICD10WHO:J98.3 compensatory emphysema Compensatory emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label compensatory emphysema +MONDO:0000927 MONDO:equivalentTo ICD10WHO:A52.2 asymptomatic neurosyphilis Asymptomatic neurosyphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asymptomatic neurosyphilis +MONDO:0000983 MONDO:equivalentTo ICD10WHO:F65.2 exhibitionism Exhibitionism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exhibitionism +MONDO:0000986 MONDO:equivalentTo ICD10WHO:R09.1 pleurisy Pleurisy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleurisy +MONDO:0000987 MONDO:equivalentTo ICD10WHO:K82.4 cholesterolosis of gallbladder Cholesterolosis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterolosis of gallbladder +MONDO:0000990 MONDO:equivalentTo ICD10WHO:I21.4 acute subendocardial myocardial infarction Acute subendocardial myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute subendocardial myocardial infarction +MONDO:0001007 MONDO:equivalentTo ICD10WHO:G03.1 chronic meningitis Chronic meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic meningitis +MONDO:0001009 MONDO:equivalentTo ICD10WHO:N60.0 solitary cyst of breast Solitary cyst of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary cyst of breast +MONDO:0001024 MONDO:equivalentTo ICD10WHO:A20.2 pneumonic plague Pneumonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonic plague +MONDO:0001029 MONDO:equivalentTo ICD10WHO:Q76.1 Klippel-Feil syndrome Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil syndrome +MONDO:0001042 MONDO:equivalentTo ICD10WHO:M76.5 patellar tendinitis Patellar tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar tendinitis +MONDO:0001049 MONDO:equivalentTo ICD10WHO:I24.1 Dressler syndrome Dressler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dressler syndrome +MONDO:0001050 MONDO:equivalentTo ICD10WHO:H60.2 malignant otitis externa Malignant otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant otitis externa +MONDO:0001078 MONDO:equivalentTo ICD10WHO:K90.1 tropical sprue Tropical sprue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical sprue +MONDO:0001100 MONDO:equivalentTo ICD10WHO:N62 hypertrophy of breast Hypertrophy of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of breast +MONDO:0001101 MONDO:equivalentTo ICD10WHO:N64.1 fat necrosis of breast Fat necrosis of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fat necrosis of breast +MONDO:0001109 MONDO:equivalentTo ICD10WHO:H70.2 petrositis Petrositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label petrositis +MONDO:0001112 MONDO:equivalentTo ICD10WHO:A20.0 bubonic plague Bubonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bubonic plague +MONDO:0001120 MONDO:equivalentTo ICD10WHO:J32.1 chronic frontal sinusitis Chronic frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic frontal sinusitis +MONDO:0001122 MONDO:equivalentTo ICD10WHO:J32.0 chronic maxillary sinusitis Chronic maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic maxillary sinusitis +MONDO:0001123 MONDO:equivalentTo ICD10WHO:J32.3 chronic sphenoidal sinusitis Chronic sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic sphenoidal sinusitis +MONDO:0001126 MONDO:equivalentTo ICD10WHO:K25 gastric ulcer Gastric ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric ulcer +MONDO:0001135 MONDO:equivalentTo ICD10WHO:F65.3 voyeurism Voyeurism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label voyeurism +MONDO:0001143 MONDO:equivalentTo ICD10WHO:H49 paralytic strabismus Paralytic strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic strabismus +MONDO:0001149 MONDO:equivalentTo ICD10WHO:Q02 microcephaly Microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly +MONDO:0001150 MONDO:equivalentTo ICD10WHO:G91 hydrocephalus Hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus +MONDO:0001155 MONDO:equivalentTo ICD10WHO:K28 gastrojejunal ulcer Gastrojejunal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrojejunal ulcer +MONDO:0001157 MONDO:equivalentTo ICD10WHO:F60.7 dependent personality disorder Dependent personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dependent personality disorder +MONDO:0001161 MONDO:equivalentTo ICD10WHO:F60.1 schizoid personality disorder Schizoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizoid personality disorder +MONDO:0001163 MONDO:equivalentTo ICD10WHO:F60.0 paranoid personality disorder Paranoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid personality disorder +MONDO:0001168 MONDO:equivalentTo ICD10WHO:G81.1 spastic hemiplegia Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia +MONDO:0001170 MONDO:equivalentTo ICD10WHO:G81 hemiplegia Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia +MONDO:0001180 MONDO:equivalentTo ICD10WHO:H18.1 bullous keratopathy Bullous keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous keratopathy +MONDO:0001185 MONDO:equivalentTo ICD10WHO:F44.0 dissociative amnesia Dissociative amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissociative amnesia +MONDO:0001200 MONDO:equivalentTo ICD10WHO:I15 secondary hypertension Secondary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension +MONDO:0001208 MONDO:equivalentTo ICD10WHO:J96.0 acute respiratory failure Acute respiratory failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute respiratory failure +MONDO:0001210 MONDO:equivalentTo ICD10WHO:H05.4 enophthalmos Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos +MONDO:0001216 MONDO:equivalentTo ICD10WHO:K04.2 pulp degeneration Pulp degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration +MONDO:0001218 MONDO:equivalentTo ICD10WHO:J06.0 acute laryngopharyngitis Acute laryngopharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngopharyngitis +MONDO:0001220 MONDO:equivalentTo ICD10WHO:E20 hypoparathyroidism Hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoparathyroidism +MONDO:0001241 MONDO:equivalentTo ICD10WHO:P61.5 transient neonatal neutropenia Transient neonatal neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal neutropenia +MONDO:0001249 MONDO:equivalentTo ICD10WHO:A71 trachoma Trachoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trachoma +MONDO:0001251 MONDO:equivalentTo ICD10WHO:K04.5 chronic apical periodontitis Chronic apical periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic apical periodontitis +MONDO:0001260 MONDO:equivalentTo ICD10WHO:B65.3 cercarial dermatitis Cercarial dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cercarial dermatitis +MONDO:0001266 MONDO:equivalentTo ICD10WHO:A46 erysipelas Erysipelas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erysipelas +MONDO:0001268 MONDO:equivalentTo ICD10WHO:K06.0 gingival recession Gingival recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession +MONDO:0001274 MONDO:equivalentTo ICD10WHO:K59.4 anal spasm Anal spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal spasm +MONDO:0001276 MONDO:equivalentTo ICD10WHO:F80.1 expressive language disorder Expressive language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label expressive language disorder +MONDO:0001284 MONDO:equivalentTo ICD10WHO:N80.5 endometriosis of intestine Endometriosis of intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of intestine +MONDO:0001285 MONDO:equivalentTo ICD10WHO:N80.3 endometriosis of pelvic peritoneum Endometriosis of pelvic peritoneum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of pelvic peritoneum +MONDO:0001287 MONDO:equivalentTo ICD10WHO:N80.6 endometriosis in cutaneous scar Endometriosis in cutaneous scar semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis in cutaneous scar +MONDO:0001288 MONDO:equivalentTo ICD10WHO:N80.4 endometriosis of rectovaginal septum and vagina Endometriosis of rectovaginal septum and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of rectovaginal septum and vagina +MONDO:0001294 MONDO:equivalentTo ICD10WHO:G90.2 Horner syndrome Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horner syndrome +MONDO:0001295 MONDO:equivalentTo ICD10WHO:G90.0 idiopathic peripheral autonomic neuropathy Idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peripheral autonomic neuropathy +MONDO:0001302 MONDO:equivalentTo ICD10WHO:I11 hypertensive heart disease Hypertensive heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disease +MONDO:0001312 MONDO:equivalentTo ICD10WHO:H65.0 acute serous otitis media Acute serous otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute serous otitis media +MONDO:0001316 MONDO:equivalentTo ICD10WHO:G00.2 streptococcal meningitis Streptococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal meningitis +MONDO:0001330 MONDO:equivalentTo ICD10WHO:H52.4 presbyopia Presbyopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbyopia +MONDO:0001332 MONDO:equivalentTo ICD10WHO:M12.3 palindromic rheumatism Palindromic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palindromic rheumatism +MONDO:0001339 MONDO:equivalentTo ICD10WHO:I81 portal vein thrombosis Portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal vein thrombosis +MONDO:0001349 MONDO:equivalentTo ICD10WHO:K02.4 odontoclasia Odontoclasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoclasia +MONDO:0001367 MONDO:equivalentTo ICD10WHO:D73.2 chronic congestive splenomegaly Chronic congestive splenomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic congestive splenomegaly +MONDO:0001369 MONDO:equivalentTo ICD10WHO:J37.0 chronic laryngitis Chronic laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic laryngitis +MONDO:0001382 MONDO:equivalentTo ICD10WHO:K76.7 hepatorenal syndrome Hepatorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatorenal syndrome +MONDO:0001383 MONDO:equivalentTo ICD10WHO:H44.2 degenerative myopia Degenerative myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degenerative myopia +MONDO:0001384 MONDO:equivalentTo ICD10WHO:H52.1 myopia Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia +MONDO:0001391 MONDO:equivalentTo ICD10WHO:A30.0 indeterminate leprosy Indeterminate leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate leprosy +MONDO:0001410 MONDO:equivalentTo ICD10WHO:N95.2 postmenopausal atrophic vaginitis Postmenopausal atrophic vaginitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal atrophic vaginitis +MONDO:0001415 MONDO:equivalentTo ICD10WHO:N50.0 atrophy of testis Atrophy of testis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophy of testis +MONDO:0001443 MONDO:equivalentTo ICD10WHO:H74.0 tympanosclerosis Tympanosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tympanosclerosis +MONDO:0001444 MONDO:equivalentTo ICD10WHO:B57 Chagas disease Chagas disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chagas disease +MONDO:0001449 MONDO:equivalentTo ICD10WHO:A87.2 lymphocytic choriomeningitis Lymphocytic choriomeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic choriomeningitis +MONDO:0001451 MONDO:equivalentTo ICD10WHO:H35.4 peripheral retinal degeneration Peripheral retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral retinal degeneration +MONDO:0001461 MONDO:equivalentTo ICD10WHO:B35.4 tinea corporis Tinea corporis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea corporis +MONDO:0001479 MONDO:equivalentTo ICD10WHO:A36.3 cutaneous diphtheria Cutaneous diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous diphtheria +MONDO:0001484 MONDO:equivalentTo ICD10WHO:F20.0 paranoid schizophrenia Paranoid schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid schizophrenia +MONDO:0001492 MONDO:equivalentTo ICD10WHO:I27.1 kyphoscoliotic heart disease Kyphoscoliotic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic heart disease +MONDO:0001505 MONDO:equivalentTo ICD10WHO:K70.1 alcoholic hepatitis Alcoholic hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic hepatitis +MONDO:0001506 MONDO:equivalentTo ICD10WHO:N41.3 prostatocystitis Prostatocystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostatocystitis +MONDO:0001508 MONDO:equivalentTo ICD10WHO:H69.0 patulous eustachian tube Patulous Eustachian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patulous eustachian tube +MONDO:0001515 MONDO:equivalentTo ICD10WHO:H18.4 corneal degeneration Corneal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal degeneration +MONDO:0001540 MONDO:equivalentTo ICD10WHO:J67.1 bagassosis Bagassosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bagassosis +MONDO:0001543 MONDO:equivalentTo ICD10WHO:G57.0 lesion of sciatic nerve Lesion of sciatic nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesion of sciatic nerve +MONDO:0001551 MONDO:equivalentTo ICD10WHO:N76.6 ulceration of vulva Ulceration of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulceration of vulva +MONDO:0001557 MONDO:equivalentTo ICD10WHO:M70.2 olecranon bursitis Olecranon bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olecranon bursitis +MONDO:0001583 MONDO:equivalentTo ICD10WHO:G63.2 diabetic polyneuropathy Diabetic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic polyneuropathy +MONDO:0001600 MONDO:equivalentTo ICD10WHO:K11.6 mucocele of salivary gland Mucocele of salivary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocele of salivary gland +MONDO:0001601 MONDO:equivalentTo ICD10WHO:B53.0 Plasmodium ovale malaria Plasmodium ovale malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium ovale malaria +MONDO:0001604 MONDO:equivalentTo ICD10WHO:H02.2 lagophthalmos Lagophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lagophthalmos +MONDO:0001616 MONDO:equivalentTo ICD10WHO:B48.0 lobomycosis Lobomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobomycosis +MONDO:0001617 MONDO:equivalentTo ICD10WHO:G45.4 transient global amnesia Transient global amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient global amnesia +MONDO:0001618 MONDO:equivalentTo ICD10WHO:N48.1 balanoposthitis Balanoposthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balanoposthitis +MONDO:0001620 MONDO:equivalentTo ICD10WHO:A68.0 louse-borne relapsing fever Louse-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label louse-borne relapsing fever +MONDO:0001621 MONDO:equivalentTo ICD10WHO:A68.1 tick-borne relapsing fever Tick-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne relapsing fever +MONDO:0001624 MONDO:equivalentTo ICD10WHO:J01.3 acute sphenoidal sinusitis Acute sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sphenoidal sinusitis +MONDO:0001625 MONDO:equivalentTo ICD10WHO:N83.1 corpus luteum cyst Corpus luteum cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst +MONDO:0001628 MONDO:equivalentTo ICD10WHO:B35.1 tinea unguium Tinea unguium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea unguium +MONDO:0001633 MONDO:equivalentTo ICD10WHO:H34.1 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion +MONDO:0001641 MONDO:equivalentTo ICD10WHO:O14.1 severe pre-eclampsia Severe pre-eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe pre-eclampsia +MONDO:0001650 MONDO:equivalentTo ICD10WHO:N30.0 acute cystitis Acute cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cystitis +MONDO:0001687 MONDO:equivalentTo ICD10WHO:H28.0 diabetic cataract Diabetic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic cataract +MONDO:0001689 MONDO:equivalentTo ICD10WHO:K14.3 hypertrophy of tongue papillae Hypertrophy of tongue papillae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of tongue papillae +MONDO:0001699 MONDO:equivalentTo ICD10WHO:B35.2 tinea manuum Tinea manuum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea manuum +MONDO:0001701 MONDO:equivalentTo ICD10WHO:A22.2 gastrointestinal anthrax Gastrointestinal anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal anthrax +MONDO:0001710 MONDO:equivalentTo ICD10WHO:K83.2 perforation of bile duct Perforation of bile duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perforation of bile duct +MONDO:0001718 MONDO:equivalentTo ICD10WHO:H15.0 scleritis Scleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleritis +MONDO:0001719 MONDO:equivalentTo ICD10WHO:M73.0 gonococcal bursitis Gonococcal bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal bursitis +MONDO:0001732 MONDO:equivalentTo ICD10WHO:N30.3 trigonitis Trigonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonitis +MONDO:0001734 MONDO:equivalentTo ICD10WHO:Q85.1 tuberous sclerosis Tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberous sclerosis +MONDO:0001736 MONDO:equivalentTo ICD10WHO:P39.0 neonatal infective mastitis Neonatal infective mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal infective mastitis +MONDO:0001737 MONDO:equivalentTo ICD10WHO:A33 tetanus neonatorum Tetanus neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus neonatorum +MONDO:0001753 MONDO:equivalentTo ICD10WHO:N97.2 female infertility of uterine origin Female infertility of uterine origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility of uterine origin +MONDO:0001754 MONDO:equivalentTo ICD10WHO:O15 eclampsia Eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eclampsia +MONDO:0001772 MONDO:equivalentTo ICD10WHO:K62.6 ulcer of anus and rectum Ulcer of anus and rectum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcer of anus and rectum +MONDO:0001780 MONDO:equivalentTo ICD10WHO:F52.4 premature ejaculation Premature ejaculation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ejaculation +MONDO:0001797 MONDO:equivalentTo ICD10WHO:A57 chancroid Chancroid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chancroid +MONDO:0001798 MONDO:equivalentTo ICD10WHO:M35.7 hypermobility syndrome Hypermobility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypermobility syndrome +MONDO:0001823 MONDO:equivalentTo ICD10WHO:I49.5 sick sinus syndrome Sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sick sinus syndrome +MONDO:0001827 MONDO:equivalentTo ICD10WHO:B36.2 white piedra White piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white piedra +MONDO:0001830 MONDO:equivalentTo ICD10WHO:F45.0 somatization disorder Somatization disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatization disorder +MONDO:0001859 MONDO:equivalentTo ICD10WHO:M89.0 algoneurodystrophy Algoneurodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label algoneurodystrophy +MONDO:0001868 MONDO:equivalentTo ICD10WHO:H40.2 primary angle-closure glaucoma Primary angle-closure glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary angle-closure glaucoma +MONDO:0001873 MONDO:equivalentTo ICD10WHO:G51.1 geniculate ganglionitis Geniculate ganglionitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geniculate ganglionitis +MONDO:0001880 MONDO:equivalentTo ICD10WHO:K14.2 median rhomboid glossitis Median rhomboid glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median rhomboid glossitis +MONDO:0001881 MONDO:equivalentTo ICD10WHO:A48.3 toxic shock syndrome Toxic shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic shock syndrome +MONDO:0001889 MONDO:equivalentTo ICD10WHO:E28 ovarian dysfunction Ovarian dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian dysfunction +MONDO:0001896 MONDO:equivalentTo ICD10WHO:G91.1 obstructive hydrocephalus Obstructive hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive hydrocephalus +MONDO:0001903 MONDO:equivalentTo ICD10WHO:M65.2 calcific tendinitis Calcific tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calcific tendinitis +MONDO:0001912 MONDO:equivalentTo ICD10WHO:J01.1 acute frontal sinusitis Acute frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute frontal sinusitis +MONDO:0001927 MONDO:equivalentTo ICD10WHO:I37.1 pulmonary valve insufficiency Pulmonary valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve insufficiency +MONDO:0001942 MONDO:equivalentTo ICD10WHO:F41.1 generalized anxiety disorder Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized anxiety disorder +MONDO:0001943 MONDO:equivalentTo ICD10WHO:B52 Plasmodium malariae malaria Plasmodium malariae malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium malariae malaria +MONDO:0001949 MONDO:equivalentTo ICD10WHO:E06.0 acute thyroiditis Acute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute thyroiditis +MONDO:0001954 MONDO:equivalentTo ICD10WHO:I82.1 thrombophlebitis migrans Thrombophlebitis migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophlebitis migrans +MONDO:0001964 MONDO:equivalentTo ICD10WHO:H66.1 chronic tubotympanic suppurative otitis media Chronic tubotympanic suppurative otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic tubotympanic suppurative otitis media +MONDO:0001999 MONDO:equivalentTo ICD10WHO:I27.0 primary pulmonary hypertension Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension +MONDO:0002008 MONDO:equivalentTo ICD10WHO:H83.0 labyrinthitis Labyrinthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label labyrinthitis +MONDO:0002026 MONDO:equivalentTo ICD10WHO:B37 candidiasis Candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label candidiasis +MONDO:0002045 MONDO:equivalentTo ICD10WHO:G91.0 communicating hydrocephalus Communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating hydrocephalus +MONDO:0002070 MONDO:equivalentTo ICD10WHO:Q21.0 ventricular septal defect Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect +MONDO:0002075 MONDO:equivalentTo ICD10WHO:J93.0 spontaneous tension pneumothorax Spontaneous tension pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous tension pneumothorax +MONDO:0002076 MONDO:equivalentTo ICD10WHO:J93 pneumothorax Pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumothorax +MONDO:0002125 MONDO:equivalentTo ICD10WHO:G41 status epilepticus Status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status epilepticus +MONDO:0002127 MONDO:equivalentTo ICD10WHO:N35 urethral stricture Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture +MONDO:0002128 MONDO:equivalentTo ICD10WHO:G58.7 mononeuritis multiplex Mononeuritis multiplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononeuritis multiplex +MONDO:0002133 MONDO:equivalentTo ICD10WHO:I09.2 chronic rheumatic pericarditis Chronic rheumatic pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rheumatic pericarditis +MONDO:0002137 MONDO:equivalentTo ICD10WHO:H01.1 noninfectious dermatoses of eyelid Noninfectious dermatoses of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noninfectious dermatoses of eyelid +MONDO:0002153 MONDO:equivalentTo ICD10WHO:L65.0 telogen effluvium Telogen effluvium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telogen effluvium +MONDO:0002154 MONDO:equivalentTo ICD10WHO:A59 trichomoniasis Trichomoniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomoniasis +MONDO:0002155 MONDO:equivalentTo ICD10WHO:K81 cholecystitis Cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholecystitis +MONDO:0002175 MONDO:equivalentTo ICD10WHO:H35.3 degeneration of macula and posterior pole Degeneration of macula and posterior pole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degeneration of macula and posterior pole +MONDO:0002186 MONDO:equivalentTo ICD10WHO:J01.0 acute maxillary sinusitis Acute maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute maxillary sinusitis +MONDO:0002196 MONDO:equivalentTo ICD10WHO:P78.0 perinatal intestinal perforation Perinatal intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal intestinal perforation +MONDO:0002253 MONDO:equivalentTo ICD10WHO:M47 spondylosis Spondylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylosis +MONDO:0002307 MONDO:equivalentTo ICD10WHO:H10.5 blepharoconjunctivitis Blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoconjunctivitis +MONDO:0002314 MONDO:equivalentTo ICD10WHO:H10.4 chronic conjunctivitis Chronic conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic conjunctivitis +MONDO:0002342 MONDO:equivalentTo ICD10WHO:M94.2 chondromalacia Chondromalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia +MONDO:0002419 MONDO:equivalentTo ICD10WHO:F95.0 transient tic disorder Transient tic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tic disorder +MONDO:0002473 MONDO:equivalentTo ICD10WHO:Q61 cystic kidney disease Cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic kidney disease +MONDO:0002594 MONDO:equivalentTo ICD10WHO:B04 monkeypox Monkeypox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monkeypox +MONDO:0002613 MONDO:equivalentTo ICD10WHO:F60.4 histrionic personality disorder Histrionic personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histrionic personality disorder +MONDO:0002660 MONDO:equivalentTo ICD10WHO:H02.3 blepharochalasis Blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharochalasis +MONDO:0002679 MONDO:equivalentTo ICD10WHO:I63 cerebral infarction Cerebral infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral infarction +MONDO:0002754 MONDO:equivalentTo ICD10WHO:C90.2 extramedullary plasmacytoma Extramedullary plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary plasmacytoma +MONDO:0002815 MONDO:equivalentTo ICD10WHO:I40 acute myocarditis Acute myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocarditis +MONDO:0002885 MONDO:equivalentTo ICD10WHO:L08.1 erythrasma Erythrasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrasma +MONDO:0002922 MONDO:equivalentTo ICD10WHO:L08.0 pyoderma Pyoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma +MONDO:0002959 MONDO:equivalentTo ICD10WHO:M54.1 radiculopathy Radiculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiculopathy +MONDO:0003009 MONDO:equivalentTo ICD10WHO:E26 hyperaldosteronism Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism +MONDO:0003040 MONDO:equivalentTo ICD10WHO:R41.2 retrograde amnesia Retrograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia +MONDO:0003085 MONDO:equivalentTo ICD10WHO:H16 keratitis Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratitis +MONDO:0003231 MONDO:equivalentTo ICD10WHO:A80.4 acute nonparalytic poliomyelitis Acute nonparalytic poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute nonparalytic poliomyelitis +MONDO:0003233 MONDO:equivalentTo ICD10WHO:G25.0 essential tremor Essential tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential tremor +MONDO:0003398 MONDO:equivalentTo ICD10WHO:R41.1 anterograde amnesia Anterograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterograde amnesia +MONDO:0003417 MONDO:equivalentTo ICD10WHO:H51.2 internuclear ophthalmoplegia Internuclear ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internuclear ophthalmoplegia +MONDO:0003608 MONDO:equivalentTo ICD10WHO:H47.2 optic atrophy Optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy +MONDO:0003709 MONDO:equivalentTo ICD10WHO:F40.0 agoraphobia Agoraphobia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agoraphobia +MONDO:0003799 MONDO:equivalentTo ICD10WHO:H10 conjunctivitis Conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjunctivitis +MONDO:0004126 MONDO:equivalentTo ICD10WHO:E06 thyroiditis Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroiditis +MONDO:0004215 MONDO:equivalentTo ICD10WHO:A22.0 cutaneous anthrax Cutaneous anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous anthrax +MONDO:0004223 MONDO:equivalentTo ICD10WHO:H74.4 polyp of middle ear Polyp of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of middle ear +MONDO:0004514 MONDO:equivalentTo ICD10WHO:J31.0 chronic rhinitis Chronic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rhinitis +MONDO:0004522 MONDO:equivalentTo ICD10WHO:K65 peritonitis Peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonitis +MONDO:0004525 MONDO:equivalentTo ICD10WHO:B86 scabies Scabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scabies +MONDO:0004568 MONDO:equivalentTo ICD10WHO:K56.0 paralytic ileus Paralytic ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic ileus +MONDO:0004577 MONDO:equivalentTo ICD10WHO:H16.0 corneal ulcer Corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal ulcer +MONDO:0004582 MONDO:equivalentTo ICD10WHO:I09.0 rheumatic myocarditis Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis +MONDO:0004585 MONDO:equivalentTo ICD10WHO:O40 polyhydramnios Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios +MONDO:0004586 MONDO:equivalentTo ICD10WHO:J99.0 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease +MONDO:0004586 MONDO:equivalentTo ICD10WHO:M05.1 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease +MONDO:0004588 MONDO:equivalentTo ICD10WHO:H53.6 night blindness Night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness +MONDO:0004592 MONDO:equivalentTo ICD10WHO:L01 impetigo Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo +MONDO:0004619 MONDO:equivalentTo ICD10WHO:B05 measles Measles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label measles +MONDO:0004627 MONDO:equivalentTo ICD10WHO:K29.8 duodenitis Duodenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenitis +MONDO:0004640 MONDO:equivalentTo ICD10WHO:K29.2 alcoholic gastritis Alcoholic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic gastritis +MONDO:0004648 MONDO:equivalentTo ICD10WHO:F01 vascular dementia Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia +MONDO:0004651 MONDO:equivalentTo ICD10WHO:B03 smallpox Smallpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smallpox +MONDO:0004665 MONDO:equivalentTo ICD10WHO:C81.1 nodular sclerosis classical Hodgkin lymphoma Nodular sclerosis classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular sclerosis classical hodgkin lymphoma +MONDO:0004668 MONDO:equivalentTo ICD10WHO:B66.3 fascioliasis Fascioliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fascioliasis +MONDO:0004670 MONDO:equivalentTo ICD10WHO:L93 lupus erythematosus Lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus +MONDO:0004672 MONDO:equivalentTo ICD10WHO:B66.5 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis +MONDO:0004677 MONDO:equivalentTo ICD10WHO:B36.1 tinea nigra Tinea nigra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea nigra +MONDO:0004678 MONDO:equivalentTo ICD10WHO:B35 dermatophytosis Dermatophytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatophytosis +MONDO:0004679 MONDO:equivalentTo ICD10WHO:N89.4 leukoplakia of vagina Leukoplakia of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of vagina +MONDO:0004717 MONDO:equivalentTo ICD10WHO:K76.4 peliosis hepatis Peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peliosis hepatis +MONDO:0004745 MONDO:equivalentTo ICD10WHO:N48.3 priapism Priapism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label priapism +MONDO:0004747 MONDO:equivalentTo ICD10WHO:Q36 cleft lip Cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip +MONDO:0004753 MONDO:equivalentTo ICD10WHO:H50.6 mechanical strabismus Mechanical strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mechanical strabismus +MONDO:0004754 MONDO:equivalentTo ICD10WHO:K62.3 rectal prolapse Rectal prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal prolapse +MONDO:0004757 MONDO:equivalentTo ICD10WHO:J32.2 chronic ethmoidal sinusitis Chronic ethmoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic ethmoidal sinusitis +MONDO:0004766 MONDO:equivalentTo ICD10WHO:J46 status asthmaticus Status asthmaticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status asthmaticus +MONDO:0004768 MONDO:equivalentTo ICD10WHO:H16.2 keratoconjunctivitis Keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconjunctivitis +MONDO:0004773 MONDO:equivalentTo ICD10WHO:H20 iridocyclitis Iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocyclitis +MONDO:0004775 MONDO:equivalentTo ICD10WHO:H20.2 lens-induced iridocyclitis Lens-induced iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lens-induced iridocyclitis +MONDO:0004777 MONDO:equivalentTo ICD10WHO:J04.0 acute laryngitis Acute laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngitis +MONDO:0004781 MONDO:equivalentTo ICD10WHO:I21 acute myocardial infarction Acute myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocardial infarction +MONDO:0004782 MONDO:equivalentTo ICD10WHO:E23.2 diabetes insipidus Diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes insipidus +MONDO:0004785 MONDO:equivalentTo ICD10WHO:H01.0 blepharitis Blepharitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharitis +MONDO:0004789 MONDO:equivalentTo ICD10WHO:K83.0 cholangitis Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangitis +MONDO:0004795 MONDO:equivalentTo ICD10WHO:H60 otitis externa Otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa +MONDO:0004804 MONDO:equivalentTo ICD10WHO:H04.0 dacryoadenitis Dacryoadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryoadenitis +MONDO:0004808 MONDO:equivalentTo ICD10WHO:N60 benign mammary dysplasia Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign mammary dysplasia +MONDO:0004822 MONDO:equivalentTo ICD10WHO:J47 bronchiectasis Bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiectasis +MONDO:0004824 MONDO:equivalentTo ICD10WHO:P37.5 neonatal candidiasis Neonatal candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal candidiasis +MONDO:0004835 MONDO:equivalentTo ICD10WHO:M72.6 necrotizing fasciitis Necrotizing fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing fasciitis +MONDO:0004847 MONDO:equivalentTo ICD10WHO:H25 senile cataract Senile cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senile cataract +MONDO:0004859 MONDO:equivalentTo ICD10WHO:K82.1 hydrops of gallbladder Hydrops of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops of gallbladder +MONDO:0004863 MONDO:equivalentTo ICD10WHO:H44.0 purulent endophthalmitis Purulent endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purulent endophthalmitis +MONDO:0004869 MONDO:equivalentTo ICD10WHO:I86.2 pelvic varices Pelvic varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic varices +MONDO:0004877 MONDO:equivalentTo ICD10WHO:P61.0 transient neonatal thrombocytopenia Transient neonatal thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal thrombocytopenia +MONDO:0004911 MONDO:equivalentTo ICD10WHO:A52.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis +MONDO:0004911 MONDO:equivalentTo ICD10WHO:I98.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis +MONDO:0004919 MONDO:equivalentTo ICD10WHO:N43.1 infected hydrocele Infected hydrocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infected hydrocele +MONDO:0004933 MONDO:equivalentTo ICD10WHO:Q23.4 hypoplastic left heart syndrome Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome +MONDO:0004937 MONDO:equivalentTo ICD10WHO:E67.3 hypervitaminosis D Hypervitaminosis D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis d +MONDO:0004975 MONDO:equivalentTo ICD10WHO:G30 Alzheimer disease Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alzheimer disease +MONDO:0004977 MONDO:equivalentTo ICD10WHO:C86.5 angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma +MONDO:0004979 MONDO:equivalentTo ICD10WHO:J45 asthma Asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asthma +MONDO:0004994 MONDO:equivalentTo ICD10WHO:I42 cardiomyopathy Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy +MONDO:0005009 MONDO:equivalentTo ICD10WHO:I50.0 congestive heart failure Congestive heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congestive heart failure +MONDO:0005015 MONDO:equivalentTo ICD10WHO:E10-E14 diabetes mellitus Diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes mellitus +MONDO:0005021 MONDO:equivalentTo ICD10WHO:I42.0 dilated cardiomyopathy Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy +MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma +MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40-H42 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma +MONDO:0005052 MONDO:equivalentTo ICD10WHO:K58 irritable bowel syndrome Irritable bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irritable bowel syndrome +MONDO:0005065 MONDO:equivalentTo ICD10WHO:C45 mesothelioma Mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesothelioma +MONDO:0005080 MONDO:equivalentTo ICD10WHO:K76.6 portal hypertension Portal hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal hypertension +MONDO:0005083 MONDO:equivalentTo ICD10WHO:L40 psoriasis Psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis +MONDO:0005085 MONDO:equivalentTo ICD10WHO:H11.0 pterygium Pterygium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium +MONDO:0005090 MONDO:equivalentTo ICD10WHO:F20 schizophrenia Schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizophrenia +MONDO:0005100 MONDO:equivalentTo ICD10WHO:M34 systemic sclerosis Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis +MONDO:0005101 MONDO:equivalentTo ICD10WHO:K51 ulcerative colitis Ulcerative colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcerative colitis +MONDO:0005125 MONDO:equivalentTo ICD10WHO:A30.3 borderline leprosy Borderline leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borderline leprosy +MONDO:0005126 MONDO:equivalentTo ICD10WHO:A30.1 tuberculoid leprosy Tuberculoid leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculoid leprosy +MONDO:0005127 MONDO:equivalentTo ICD10WHO:A30.5 lepromatous leprosy Lepromatous leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lepromatous leprosy +MONDO:0005133 MONDO:equivalentTo ICD10WHO:N80 endometriosis Endometriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis +MONDO:0005146 MONDO:equivalentTo ICD10WHO:F43.1 post-traumatic stress disorder Post-traumatic stress disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-traumatic stress disorder +MONDO:0005147 MONDO:equivalentTo ICD10WHO:E10 type 1 diabetes mellitus Type 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 diabetes mellitus +MONDO:0005148 MONDO:equivalentTo ICD10WHO:E11 type 2 diabetes mellitus Type 2 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 2 diabetes mellitus +MONDO:0005152 MONDO:equivalentTo ICD10WHO:E23.0 hypopituitarism Hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopituitarism +MONDO:0005173 MONDO:equivalentTo ICD10WHO:L57.0 actinic keratosis Actinic keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic keratosis +MONDO:0005180 MONDO:equivalentTo ICD10WHO:G20 Parkinson disease Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinson disease +MONDO:0005181 MONDO:equivalentTo ICD10WHO:H49.4 progressive external ophthalmoplegia Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia +MONDO:0005230 MONDO:equivalentTo ICD10WHO:L03 cellulitis Cellulitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cellulitis +MONDO:0005246 MONDO:equivalentTo ICD10WHO:M86 osteomyelitis Osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomyelitis +MONDO:0005252 MONDO:equivalentTo ICD10WHO:I50 heart failure Heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart failure +MONDO:0005259 MONDO:equivalentTo ICD10WHO:F84.5 Asperger syndrome Asperger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asperger syndrome +MONDO:0005266 MONDO:equivalentTo ICD10WHO:H36.0 diabetic retinopathy Diabetic retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic retinopathy +MONDO:0005276 MONDO:equivalentTo ICD10WHO:K02 dental caries Dental caries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dental caries +MONDO:0005279 MONDO:equivalentTo ICD10WHO:I26 pulmonary embolism Pulmonary embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary embolism +MONDO:0005300 MONDO:equivalentTo ICD10WHO:N18 chronic kidney disease Chronic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic kidney disease +MONDO:0005301 MONDO:equivalentTo ICD10WHO:G35 multiple sclerosis Multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis +MONDO:0005306 MONDO:equivalentTo ICD10WHO:M45 ankylosing spondylitis Ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosing spondylitis +MONDO:0005311 MONDO:equivalentTo ICD10WHO:I70 atherosclerosis Atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis +MONDO:0005326 MONDO:equivalentTo ICD10WHO:L55 sunburn Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn +MONDO:0005340 MONDO:equivalentTo ICD10WHO:L63 alopecia areata Alopecia areata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia areata +MONDO:0005345 MONDO:equivalentTo ICD10WHO:Q54 hypospadias Hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias +MONDO:0005349 MONDO:equivalentTo ICD10WHO:H80 otosclerosis Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis +MONDO:0005351 MONDO:equivalentTo ICD10WHO:F50.0 anorexia nervosa Anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorexia nervosa +MONDO:0005372 MONDO:equivalentTo ICD10WHO:N46 male infertility Male infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility +MONDO:0005373 MONDO:equivalentTo ICD10WHO:A39 meningococcal infection Meningococcal infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal infection +MONDO:0005377 MONDO:equivalentTo ICD10WHO:N04 nephrotic syndrome Nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome +MONDO:0005380 MONDO:equivalentTo ICD10WHO:M87 osteonecrosis Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis +MONDO:0005387 MONDO:equivalentTo ICD10WHO:E28.3 primary ovarian failure Primary ovarian failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ovarian failure +MONDO:0005392 MONDO:equivalentTo ICD10WHO:M41 scoliosis Scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scoliosis +MONDO:0005393 MONDO:equivalentTo ICD10WHO:M10 gout Gout semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gout +MONDO:0005412 MONDO:equivalentTo ICD10WHO:K26 duodenal ulcer Duodenal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal ulcer +MONDO:0005445 MONDO:equivalentTo ICD10WHO:B55.0 visceral leishmaniasis Visceral leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral leishmaniasis +MONDO:0005446 MONDO:equivalentTo ICD10WHO:B55.1 cutaneous leishmaniasis Cutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis +MONDO:0005452 MONDO:equivalentTo ICD10WHO:F50.2 bulimia nervosa Bulimia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulimia nervosa +MONDO:0005469 MONDO:equivalentTo ICD10WHO:I95.1 orthostatic hypotension Orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension +MONDO:0005477 MONDO:equivalentTo ICD10WHO:I47.2 ventricular tachycardia Ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular tachycardia +MONDO:0005492 MONDO:equivalentTo ICD10WHO:L50 urticaria Urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urticaria +MONDO:0005498 MONDO:equivalentTo ICD10WHO:A05.1 botulism Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism +MONDO:0005504 MONDO:equivalentTo ICD10WHO:A36 diphtheria Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria +MONDO:0005527 MONDO:equivalentTo ICD10WHO:G92 toxic encephalopathy Toxic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic encephalopathy +MONDO:0005541 MONDO:equivalentTo ICD10WHO:M43.0 spondylolysis Spondylolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolysis +MONDO:0005546 MONDO:equivalentTo ICD10WHO:M79.7 fibromyalgia Fibromyalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibromyalgia +MONDO:0005593 MONDO:equivalentTo ICD10WHO:K05.3 chronic periodontitis Chronic periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic periodontitis +MONDO:0005619 MONDO:equivalentTo ICD10WHO:A01.0 typhoid fever Typhoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typhoid fever +MONDO:0005620 MONDO:equivalentTo ICD10WHO:I68.0 cerebral amyloid angiopathy Cerebral amyloid angiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy +MONDO:0005631 MONDO:equivalentTo ICD10WHO:A42 actinomycosis Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis +MONDO:0005638 MONDO:equivalentTo ICD10WHO:R48.1 agnosia Agnosia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agnosia +MONDO:0005645 MONDO:equivalentTo ICD10WHO:B76.0 ancylostomiasis Ancylostomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ancylostomiasis +MONDO:0005654 MONDO:equivalentTo ICD10WHO:B77 ascariasis Ascariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascariasis +MONDO:0005657 MONDO:equivalentTo ICD10WHO:B44 aspergillosis Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis +MONDO:0005661 MONDO:equivalentTo ICD10WHO:B60.0 babesiosis Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis +MONDO:0005662 MONDO:equivalentTo ICD10WHO:A07.0 balantidiasis Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis +MONDO:0005664 MONDO:equivalentTo ICD10WHO:A44 bartonellosis Bartonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartonellosis +MONDO:0005669 MONDO:equivalentTo ICD10WHO:B36.3 black piedra Black piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label black piedra +MONDO:0005672 MONDO:equivalentTo ICD10WHO:B40 blastomycosis Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis +MONDO:0005683 MONDO:equivalentTo ICD10WHO:A23 brucellosis Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis +MONDO:0005692 MONDO:equivalentTo ICD10WHO:A28.1 cat-scratch disease Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease +MONDO:0005693 MONDO:equivalentTo ICD10WHO:G83.4 cauda equina syndrome Cauda equina syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cauda equina syndrome +MONDO:0005699 MONDO:equivalentTo ICD10WHO:A42.2 cervicofacial actinomycosis Cervicofacial actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial actinomycosis +MONDO:0005705 MONDO:equivalentTo ICD10WHO:B66.1 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis +MONDO:0005706 MONDO:equivalentTo ICD10WHO:B38 coccidioidomycosis Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis +MONDO:0005708 MONDO:equivalentTo ICD10WHO:A93.2 Colorado tick fever Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever +MONDO:0005711 MONDO:equivalentTo ICD10WHO:Q79.0 congenital diaphragmatic hernia Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia +MONDO:0005714 MONDO:equivalentTo ICD10WHO:A50 congenital syphilis Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis +MONDO:0005715 MONDO:equivalentTo ICD10WHO:P37.1 congenital toxoplasmosis Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis +MONDO:0005724 MONDO:equivalentTo ICD10WHO:B45 cryptococcosis Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis +MONDO:0005729 MONDO:equivalentTo ICD10WHO:B66.2 dicrocoeliasis Dicrocoeliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicrocoeliasis +MONDO:0005736 MONDO:equivalentTo ICD10WHO:A83.2 eastern equine encephalitis Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis +MONDO:0005738 MONDO:equivalentTo ICD10WHO:B67 echinococcosis Echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label echinococcosis +MONDO:0005746 MONDO:equivalentTo ICD10WHO:B80 enterobiasis Enterobiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enterobiasis +MONDO:0005767 MONDO:equivalentTo ICD10WHO:A48.0 gas gangrene Gas gangrene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gas gangrene +MONDO:0005771 MONDO:equivalentTo ICD10WHO:K14.1 geographic tongue Geographic tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geographic tongue +MONDO:0005772 MONDO:equivalentTo ICD10WHO:B48.3 geotrichosis Geotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geotrichosis +MONDO:0005774 MONDO:equivalentTo ICD10WHO:A24.0 glanders Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders +MONDO:0005777 MONDO:equivalentTo ICD10WHO:A58 granuloma inguinale Granuloma inguinale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma inguinale +MONDO:0005802 MONDO:equivalentTo ICD10WHO:B71.0 hymenolepiasis Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis +MONDO:0005810 MONDO:equivalentTo ICD10WHO:B27 infectious mononucleosis Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis +MONDO:0005820 MONDO:equivalentTo ICD10WHO:A96.2 Lassa fever Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever +MONDO:0005825 MONDO:equivalentTo ICD10WHO:A27 leptospirosis Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis +MONDO:0005828 MONDO:equivalentTo ICD10WHO:A32 listeriosis Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis +MONDO:0005832 MONDO:equivalentTo ICD10WHO:I89.1 lymphangitis Lymphangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangitis +MONDO:0005838 MONDO:equivalentTo ICD10WHO:B74.4 mansonelliasis Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis +MONDO:0005844 MONDO:equivalentTo ICD10WHO:H00.1 chalazion Chalazion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chalazion +MONDO:0005848 MONDO:equivalentTo ICD10WHO:A19 miliary tuberculosis Miliary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliary tuberculosis +MONDO:0005855 MONDO:equivalentTo ICD10WHO:B08.1 molluscum contagiosum Molluscum contagiosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label molluscum contagiosum +MONDO:0005859 MONDO:equivalentTo ICD10WHO:B55.2 mucocutaneous leishmaniasis Mucocutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous leishmaniasis +MONDO:0005870 MONDO:equivalentTo ICD10WHO:B76.1 necatoriasis Necatoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necatoriasis +MONDO:0005881 MONDO:equivalentTo ICD10WHO:O41.0 oligohydramnios Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios +MONDO:0005884 MONDO:equivalentTo ICD10WHO:B66.0 opisthorchiasis Opisthorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opisthorchiasis +MONDO:0005885 MONDO:equivalentTo ICD10WHO:H46 optic neuritis Optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic neuritis +MONDO:0005894 MONDO:equivalentTo ICD10WHO:B41 paracoccidioidomycosis Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis +MONDO:0005895 MONDO:equivalentTo ICD10WHO:B66.4 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis +MONDO:0005901 MONDO:equivalentTo ICD10WHO:A28.0 pasteurellosis Pasteurellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pasteurellosis +MONDO:0005906 MONDO:equivalentTo ICD10WHO:J36 peritonsillar abscess Peritonsillar abscess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonsillar abscess +MONDO:0005915 MONDO:equivalentTo ICD10WHO:B36.0 pityriasis versicolor Pityriasis versicolor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis versicolor +MONDO:0005918 MONDO:equivalentTo ICD10WHO:O44 placenta praevia Placenta praevia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placenta praevia +MONDO:0005920 MONDO:equivalentTo ICD10WHO:B50 Plasmodium falciparum malaria Plasmodium falciparum malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium falciparum malaria +MONDO:0005921 MONDO:equivalentTo ICD10WHO:B51 Plasmodium vivax malaria Plasmodium vivax malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium vivax malaria +MONDO:0005942 MONDO:equivalentTo ICD10WHO:G93.7 Reye syndrome Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome +MONDO:0005946 MONDO:equivalentTo ICD10WHO:B48.1 rhinosporidiosis Rhinosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinosporidiosis +MONDO:0005952 MONDO:equivalentTo ICD10WHO:A38 scarlet fever Scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarlet fever +MONDO:0005963 MONDO:equivalentTo ICD10WHO:B70.1 sparganosis Sparganosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sparganosis +MONDO:0005965 MONDO:equivalentTo ICD10WHO:M48.0 spinal stenosis Spinal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis +MONDO:0005968 MONDO:equivalentTo ICD10WHO:B42 sporotrichosis Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis +MONDO:0005974 MONDO:equivalentTo ICD10WHO:B78 strongyloidiasis Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis +MONDO:0005984 MONDO:equivalentTo ICD10WHO:B35.3 tinea pedis Tinea pedis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea pedis +MONDO:0005989 MONDO:equivalentTo ICD10WHO:B58 toxoplasmosis Toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxoplasmosis +MONDO:0005991 MONDO:equivalentTo ICD10WHO:A79.0 trench fever Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever +MONDO:0005996 MONDO:equivalentTo ICD10WHO:B79 trichuriasis Trichuriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichuriasis +MONDO:0006000 MONDO:equivalentTo ICD10WHO:K67.3 tuberculous peritonitis Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculous peritonitis +MONDO:0006004 MONDO:equivalentTo ICD10WHO:J30.0 vasomotor rhinitis Vasomotor rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasomotor rhinitis +MONDO:0006008 MONDO:equivalentTo ICD10WHO:H81.2 vestibular neuronitis Vestibular neuronitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vestibular neuronitis +MONDO:0006011 MONDO:equivalentTo ICD10WHO:B15-B19 viral hepatitis Viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hepatitis +MONDO:0006015 MONDO:equivalentTo ICD10WHO:A39.1 Waterhouse-Friderichsen syndrome Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome +MONDO:0006019 MONDO:equivalentTo ICD10WHO:A66 yaws Yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yaws +MONDO:0006032 MONDO:equivalentTo ICD10WHO:N30 cystitis Cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystitis +MONDO:0006038 MONDO:equivalentTo ICD10WHO:K52.3 indeterminate colitis Indeterminate colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate colitis +MONDO:0006248 MONDO:equivalentTo ICD10WHO:O01 hydatidiform mole Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole +MONDO:0006497 MONDO:equivalentTo ICD10WHO:G80 cerebral palsy Cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral palsy +MONDO:0006515 MONDO:equivalentTo ICD10WHO:K85 acute pancreatitis Acute pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pancreatitis +MONDO:0006524 MONDO:equivalentTo ICD10WHO:L90.4 acrodermatitis chronica atrophicans Acrodermatitis chronica atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis chronica atrophicans +MONDO:0006525 MONDO:equivalentTo ICD10WHO:L23 allergic contact dermatitis Allergic contact dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic contact dermatitis +MONDO:0006526 MONDO:equivalentTo ICD10WHO:L50.0 allergic urticaria Allergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic urticaria +MONDO:0006527 MONDO:equivalentTo ICD10WHO:L74.4 anhidrosis Anhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrosis +MONDO:0006532 MONDO:equivalentTo ICD10WHO:H60.4 cholesteatoma of external ear Cholesteatoma of external ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of external ear +MONDO:0006533 MONDO:equivalentTo ICD10WHO:H71 cholesteatoma of middle ear Cholesteatoma of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of middle ear +MONDO:0006534 MONDO:equivalentTo ICD10WHO:L50.5 cholinergic urticaria Cholinergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholinergic urticaria +MONDO:0006541 MONDO:equivalentTo ICD10WHO:Q81 epidermolysis bullosa Epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa +MONDO:0006543 MONDO:equivalentTo ICD10WHO:Q81.2 epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa dystrophica +MONDO:0006545 MONDO:equivalentTo ICD10WHO:L51 erythema multiforme Erythema multiforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme +MONDO:0006551 MONDO:equivalentTo ICD10WHO:L65.2 alopecia mucinosa Alopecia mucinosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia mucinosa +MONDO:0006554 MONDO:equivalentTo ICD10WHO:L92.0 granuloma annulare Granuloma annulare semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma annulare +MONDO:0006559 MONDO:equivalentTo ICD10WHO:L73.2 hidradenitis suppurativa Hidradenitis suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa +MONDO:0006567 MONDO:equivalentTo ICD10WHO:P57.0 kernicterus due to isoimmunization Kernicterus due to isoimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kernicterus due to isoimmunization +MONDO:0006571 MONDO:equivalentTo ICD10WHO:L44.1 lichen nitidus Lichen nitidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen nitidus +MONDO:0006572 MONDO:equivalentTo ICD10WHO:L43 lichen planus Lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus +MONDO:0006581 MONDO:equivalentTo ICD10WHO:L74.0 miliaria rubra Miliaria rubra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria rubra +MONDO:0006592 MONDO:equivalentTo ICD10WHO:L41 parapsoriasis Parapsoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parapsoriasis +MONDO:0006594 MONDO:equivalentTo ICD10WHO:L10 pemphigus Pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus +MONDO:0006601 MONDO:equivalentTo ICD10WHO:L42 pityriasis rosea Pityriasis rosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rosea +MONDO:0006604 MONDO:equivalentTo ICD10WHO:L71 rosacea Rosacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rosacea +MONDO:0006618 MONDO:equivalentTo ICD10WHO:L50.4 vibratory urticaria Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria +MONDO:0006643 MONDO:equivalentTo ICD10WHO:I42.6 alcoholic cardiomyopathy Alcoholic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic cardiomyopathy +MONDO:0006645 MONDO:equivalentTo ICD10WHO:G62.1 alcoholic polyneuropathy Alcoholic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic polyneuropathy +MONDO:0006664 MONDO:equivalentTo ICD10WHO:Q21.1 atrial septal defect Atrial septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect +MONDO:0006665 MONDO:equivalentTo ICD10WHO:K29.4 chronic atrophic gastritis Chronic atrophic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic atrophic gastritis +MONDO:0006676 MONDO:equivalentTo ICD10WHO:E51.1 beriberi Beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beriberi +MONDO:0006688 MONDO:equivalentTo ICD10WHO:J66.0 byssinosis Byssinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label byssinosis +MONDO:0006692 MONDO:equivalentTo ICD10WHO:G37.2 central pontine myelinolysis Central pontine myelinolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central pontine myelinolysis +MONDO:0006694 MONDO:equivalentTo ICD10WHO:I67.2 cerebral atherosclerosis Cerebral atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral atherosclerosis +MONDO:0006713 MONDO:equivalentTo ICD10WHO:H16.4 corneal neovascularization Corneal neovascularization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal neovascularization +MONDO:0006771 MONDO:equivalentTo ICD10WHO:K14.0 glossitis Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis +MONDO:0006790 MONDO:equivalentTo ICD10WHO:K03.4 hypercementosis Hypercementosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercementosis +MONDO:0006795 MONDO:equivalentTo ICD10WHO:D73.1 hypersplenism Hypersplenism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersplenism +MONDO:0006796 MONDO:equivalentTo ICD10WHO:I67.4 hypertensive encephalopathy Hypertensive encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive encephalopathy +MONDO:0006798 MONDO:equivalentTo ICD10WHO:E67.0 hypervitaminosis A Hypervitaminosis A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis a +MONDO:0006826 MONDO:equivalentTo ICD10WHO:E40 kwashiorkor Kwashiorkor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kwashiorkor +MONDO:0006830 MONDO:equivalentTo ICD10WHO:N48.0 leukoplakia of penis Leukoplakia of penis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of penis +MONDO:0006844 MONDO:equivalentTo ICD10WHO:E61.2 magnesium deficiency Magnesium deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magnesium deficiency +MONDO:0006861 MONDO:equivalentTo ICD10WHO:C92.3 myeloid sarcoma Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma +MONDO:0006913 MONDO:equivalentTo ICD10WHO:G00.1 pneumococcal meningitis Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis +MONDO:0006916 MONDO:equivalentTo ICD10WHO:K91.5 postcholecystectomy syndrome Postcholecystectomy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postcholecystectomy syndrome +MONDO:0006936 MONDO:equivalentTo ICD10WHO:I37.0 pulmonary valve stenosis Pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve stenosis +MONDO:0006937 MONDO:equivalentTo ICD10WHO:K04.0 pulpitis Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis +MONDO:0006946 MONDO:equivalentTo ICD10WHO:N25.0 renal osteodystrophy Renal osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy +MONDO:0006947 MONDO:equivalentTo ICD10WHO:I15.0 renovascular hypertension Renovascular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension +MONDO:0006952 MONDO:equivalentTo ICD10WHO:H35.1 retinopathy of prematurity Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity +MONDO:0006970 MONDO:equivalentTo ICD10WHO:K11.5 sialolithiasis Sialolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialolithiasis +MONDO:0006977 MONDO:equivalentTo ICD10WHO:N43.4 spermatocele Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele +MONDO:0006982 MONDO:equivalentTo ICD10WHO:E06.1 subacute thyroiditis Subacute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis +MONDO:0006994 MONDO:equivalentTo ICD10WHO:G57.5 tarsal tunnel syndrome Tarsal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal tunnel syndrome +MONDO:0007015 MONDO:equivalentTo ICD10WHO:A87 viral meningitis Viral meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral meningitis +MONDO:0007016 MONDO:equivalentTo ICD10WHO:E50 vitamin A deficiency Vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin a deficiency +MONDO:0007020 MONDO:equivalentTo ICD10WHO:E51.2 Wernicke encephalopathy Wernicke encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wernicke encephalopathy +MONDO:0007032 MONDO:equivalentTo ICD10WHO:Q79.4 prune belly syndrome Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome +MONDO:0007035 MONDO:equivalentTo ICD10WHO:L83 acanthosis nigricans Acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans +MONDO:0007037 MONDO:equivalentTo ICD10WHO:Q77.4 Achondroplasia Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia +MONDO:0007074 MONDO:equivalentTo ICD10WHO:L94.6 ainhum Ainhum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ainhum +MONDO:0007125 MONDO:equivalentTo ICD10WHO:Q38.1 ankyloglossia Ankyloglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloglossia +MONDO:0007243 MONDO:equivalentTo ICD10WHO:C83.7 Burkitt lymphoma Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma +MONDO:0007275 MONDO:equivalentTo ICD10WHO:G56.0 carpal tunnel syndrome Carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome +MONDO:0007338 MONDO:equivalentTo ICD10WHO:Q35.3 cleft soft palate Cleft soft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft soft palate +MONDO:0007416 MONDO:equivalentTo ICD10WHO:N15.0 Balkan nephropathy Balkan nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balkan nephropathy +MONDO:0007529 MONDO:equivalentTo ICD10WHO:L87.2 elastosis perforans serpiginosa Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa +MONDO:0007603 MONDO:equivalentTo ICD10WHO:M05.0 Felty syndrome Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome +MONDO:0007713 MONDO:equivalentTo ICD10WHO:G51.3 clonic hemifacial spasm Clonic hemifacial spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonic hemifacial spasm +MONDO:0007739 MONDO:equivalentTo ICD10WHO:G10 Huntington disease Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease +MONDO:0007741 MONDO:equivalentTo ICD10WHO:Q62.0 congenital hydronephrosis Congenital hydronephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydronephrosis +MONDO:0007745 MONDO:equivalentTo ICD10WHO:E80.4 Gilbert syndrome Gilbert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gilbert syndrome +MONDO:0007835 MONDO:equivalentTo ICD10WHO:K56.1 intussusception Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception +MONDO:0007865 MONDO:equivalentTo ICD10WHO:M72.1 knuckle pads Knuckle pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads +MONDO:0007878 MONDO:equivalentTo ICD10WHO:Q31.5 congenital laryngomalacia Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia +MONDO:0007899 MONDO:equivalentTo ICD10WHO:L90.0 lichen sclerosus et atrophicus Lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen sclerosus et atrophicus +MONDO:0007915 MONDO:equivalentTo ICD10WHO:M32 systemic lupus erythematosus Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus +MONDO:0007921 MONDO:equivalentTo ICD10WHO:L60.5 yellow nail syndrome Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome +MONDO:0007947 MONDO:equivalentTo ICD10WHO:Q87.4 Marfan syndrome Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome +MONDO:0007955 MONDO:equivalentTo ICD10WHO:Q43.0 Meckel diverticulum Meckel diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel diverticulum +MONDO:0008015 MONDO:equivalentTo ICD10WHO:T75.3 motion sickness Motion sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness +MONDO:0008054 MONDO:equivalentTo ICD10WHO:M33.0 juvenile dermatomyositis Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis +MONDO:0008114 MONDO:equivalentTo ICD10WHO:F42 obsessive-compulsive disorder Obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obsessive-compulsive disorder +MONDO:0008159 MONDO:equivalentTo ICD10WHO:M81.0 postmenopausal osteoporosis Postmenopausal osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal osteoporosis +MONDO:0008183 MONDO:equivalentTo ICD10WHO:Q45.1 annular pancreas Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas +MONDO:0008207 MONDO:equivalentTo ICD10WHO:M22.4 chondromalacia patellae Chondromalacia patellae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia patellae +MONDO:0008213 MONDO:equivalentTo ICD10WHO:Q67.6 pectus excavatum Pectus excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum +MONDO:0008219 MONDO:equivalentTo ICD10WHO:L10.0 pemphigus vulgaris Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris +MONDO:0008274 MONDO:equivalentTo ICD10WHO:Q78.1 polyostotic fibrous dysplasia Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia +MONDO:0008320 MONDO:equivalentTo ICD10WHO:M24.7 Protrusio acetabuli Protrusio acetabuli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protrusio acetabuli +MONDO:0008449 MONDO:equivalentTo ICD10WHO:Q05 spina bifida Spina bifida semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida +MONDO:0008475 MONDO:equivalentTo ICD10WHO:M43.1 spondylolisthesis Spondylolisthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolisthesis +MONDO:0008542 MONDO:equivalentTo ICD10WHO:Q21.3 tetralogy of fallot Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot +MONDO:0008585 MONDO:equivalentTo ICD10WHO:O14.2 HELLP syndrome HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome +MONDO:0008599 MONDO:equivalentTo ICD10WHO:G50.0 trigeminal neuralgia Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia +MONDO:0008608 MONDO:equivalentTo ICD10WHO:Q90 Down syndrome Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome +MONDO:0008661 MONDO:equivalentTo ICD10WHO:L80 vitiligo Vitiligo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitiligo +MONDO:0008797 MONDO:equivalentTo ICD10WHO:K00.0 anodontia Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia +MONDO:0009044 MONDO:equivalentTo ICD10WHO:E80.5 Crigler-Najjar syndrome Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome +MONDO:0009061 MONDO:equivalentTo ICD10WHO:E84 cystic fibrosis Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis +MONDO:0009106 MONDO:equivalentTo ICD10WHO:Q06.2 diastematomyelia Diastematomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastematomyelia +MONDO:0009115 MONDO:equivalentTo ICD10WHO:E73.0 congenital lactase deficiency Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency +MONDO:0009144 MONDO:equivalentTo ICD10WHO:Q22.5 Ebstein anomaly Ebstein anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebstein anomaly +MONDO:0009169 MONDO:equivalentTo ICD10WHO:I42.4 endocardial fibroelastosis Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis +MONDO:0009264 MONDO:equivalentTo ICD10WHO:Q79.3 gastroschisis Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis +MONDO:0009326 MONDO:equivalentTo ICD10WHO:Q24.6 congenital heart block Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block +MONDO:0009451 MONDO:equivalentTo ICD10WHO:D81.4 Nezelof syndrome Nezelof syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nezelof syndrome +MONDO:0009688 MONDO:equivalentTo ICD10WHO:G70.0 myasthenia gravis Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis +MONDO:0009691 MONDO:equivalentTo ICD10WHO:C84.0 mycosis fungoides Mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides +MONDO:0009835 MONDO:equivalentTo ICD10WHO:A81.1 subacute sclerosing panencephalitis Subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute sclerosing panencephalitis +MONDO:0010029 MONDO:equivalentTo ICD10WHO:Q89.3 situs inversus Situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label situs inversus +MONDO:0010149 MONDO:equivalentTo ICD10WHO:D51.2 transcobalamin II deficiency Transcobalamin II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin ii deficiency +MONDO:0010298 MONDO:equivalentTo ICD10WHO:E79.1 Lesch-Nyhan syndrome Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome +MONDO:0010518 MONDO:equivalentTo ICD10WHO:D82.0 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome +MONDO:0010528 MONDO:equivalentTo ICD10WHO:R43.0 anosmia Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia +MONDO:0010631 MONDO:equivalentTo ICD10WHO:Q82.3 incontinentia pigmenti Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti +MONDO:0010726 MONDO:equivalentTo ICD10WHO:F84.2 Rett syndrome Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome +MONDO:0010837 MONDO:equivalentTo ICD10WHO:E21.0 primary hyperparathyroidism Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperparathyroidism +MONDO:0010920 MONDO:equivalentTo ICD10WHO:Q17.2 microtia Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia +MONDO:0010947 MONDO:equivalentTo ICD10WHO:I82.0 Budd-Chiari syndrome Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome +MONDO:0011284 MONDO:equivalentTo ICD10WHO:H52.2 astigmatism Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism +MONDO:0011438 MONDO:equivalentTo ICD10WHO:L70 acne Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne +MONDO:0011662 MONDO:equivalentTo ICD10WHO:F63.0 pathological gambling Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling +MONDO:0011827 MONDO:equivalentTo ICD10WHO:Q25.0 patent ductus arteriosus Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus +MONDO:0011989 MONDO:equivalentTo ICD10WHO:B55 leishmaniasis Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis +MONDO:0012155 MONDO:equivalentTo ICD10WHO:Q30.0 choanal atresia Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia +MONDO:0012328 MONDO:equivalentTo ICD10WHO:L72.1 trichilemmal cyst Trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichilemmal cyst +MONDO:0012672 MONDO:equivalentTo ICD10WHO:K80 cholelithiasis Cholelithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholelithiasis +MONDO:0012865 MONDO:equivalentTo ICD10WHO:L73.1 Pseudofolliculitis barbae Pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudofolliculitis barbae +MONDO:0013189 MONDO:equivalentTo ICD10WHO:F63.3 trichotillomania Trichotillomania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichotillomania +MONDO:0015092 MONDO:equivalentTo ICD10WHO:Q35.1 cleft hard palate Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate +MONDO:0015104 MONDO:equivalentTo ICD10WHO:E80.1 porphyria cutanea tarda Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda +MONDO:0015168 MONDO:equivalentTo ICD10WHO:Q74.3 arthrogryposis multiplex congenita Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita +MONDO:0015200 MONDO:equivalentTo ICD10WHO:B81.0 anisakiasis Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis +MONDO:0015260 MONDO:equivalentTo ICD10WHO:B70.0 diphyllobothriasis Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis +MONDO:0015358 MONDO:equivalentTo ICD10WHO:G60.0 hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy +MONDO:0015395 MONDO:equivalentTo ICD10WHO:Q31.1 congenital subglottic stenosis Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis +MONDO:0015469 MONDO:equivalentTo ICD10WHO:Q75.0 craniosynostosis Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis +MONDO:0015474 MONDO:equivalentTo ICD10WHO:A07.2 cryptosporidiosis Cryptosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptosporidiosis +MONDO:0015483 MONDO:equivalentTo ICD10WHO:Q75.4 mandibulofacial dysostosis Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis +MONDO:0015484 MONDO:equivalentTo ICD10WHO:B69 cysticercosis Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis +MONDO:0015486 MONDO:equivalentTo ICD10WHO:H18.6 keratoconus Keratoconus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconus +MONDO:0015496 MONDO:equivalentTo ICD10WHO:Q38.2 macroglossia Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015517 MONDO:equivalentTo ICD10WHO:D83 common variable immunodeficiency Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency +MONDO:0015573 MONDO:equivalentTo ICD10WHO:L93.1 subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus +MONDO:0015597 MONDO:equivalentTo ICD10WHO:L40.3 pustulosis palmaris et plantaris Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris +MONDO:0015614 MONDO:equivalentTo ICD10WHO:L13.0 dermatitis herpetiformis Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis +MONDO:0015622 MONDO:equivalentTo ICD10WHO:B87.1 wound myiasis Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis +MONDO:0015661 MONDO:equivalentTo ICD10WHO:Q24.0 dextrocardia Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia +MONDO:0015766 MONDO:equivalentTo ICD10WHO:A00 cholera Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera +MONDO:0016008 MONDO:equivalentTo ICD10WHO:Q86.1 fetal hydantoin syndrome Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome +MONDO:0016020 MONDO:equivalentTo ICD10WHO:Q01.0 frontal encephalocele Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele +MONDO:0016035 MONDO:equivalentTo ICD10WHO:E24.1 Nelson syndrome Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome +MONDO:0016052 MONDO:equivalentTo ICD10WHO:F84.1 atypical autism Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism +MONDO:0016064 MONDO:equivalentTo ICD10WHO:Q35 cleft palate Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate +MONDO:0016075 MONDO:equivalentTo ICD10WHO:B74 filariasis Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis +MONDO:0016122 MONDO:equivalentTo ICD10WHO:G72.3 periodic paralysis Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis +MONDO:0016215 MONDO:equivalentTo ICD10WHO:G80.0 spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic quadriplegic cerebral palsy +MONDO:0016264 MONDO:equivalentTo ICD10WHO:K75.4 autoimmune hepatitis Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis +MONDO:0016295 MONDO:equivalentTo ICD10WHO:E75.4 neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis +MONDO:0016296 MONDO:equivalentTo ICD10WHO:Q04.2 holoprosencephaly Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly +MONDO:0016318 MONDO:equivalentTo ICD10WHO:A81.2 progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy +MONDO:0016349 MONDO:equivalentTo ICD10WHO:Q03 congenital hydrocephalus Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus +MONDO:0016380 MONDO:equivalentTo ICD10WHO:L68.1 acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa +MONDO:0016383 MONDO:equivalentTo ICD10WHO:N25.1 nephrogenic diabetes insipidus Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus +MONDO:0016391 MONDO:equivalentTo ICD10WHO:P70.2 neonatal diabetes mellitus Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus +MONDO:0016472 MONDO:equivalentTo ICD10WHO:B72 dracunculiasis Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis +MONDO:0016530 MONDO:equivalentTo ICD10WHO:Q31.3 laryngocele Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele +MONDO:0016566 MONDO:equivalentTo ICD10WHO:B74.3 loiasis Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis +MONDO:0016567 MONDO:equivalentTo ICD10WHO:G83.5 locked-in syndrome Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome +MONDO:0016608 MONDO:equivalentTo ICD10WHO:Q04.5 megalencephaly Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly +MONDO:0016761 MONDO:equivalentTo ICD10WHO:Q77.7 spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia +MONDO:0016820 MONDO:equivalentTo ICD10WHO:I67.5 Moyamoya disease Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease +MONDO:0016823 MONDO:equivalentTo ICD10WHO:B47 mycetoma Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma +MONDO:0017080 MONDO:equivalentTo ICD10WHO:Q01.2 occipital encephalocele Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele +MONDO:0017137 MONDO:equivalentTo ICD10WHO:B73 onchocerciasis Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis +MONDO:0017178 MONDO:equivalentTo ICD10WHO:M93.2 osteochondritis dissecans Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans +MONDO:0017198 MONDO:equivalentTo ICD10WHO:Q78.2 osteopetrosis Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopetrosis +MONDO:0017319 MONDO:equivalentTo ICD10WHO:D58.1 hereditary elliptocytosis Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis +MONDO:0017361 MONDO:equivalentTo ICD10WHO:P35.0 congenital rubella syndrome Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome +MONDO:0017362 MONDO:equivalentTo ICD10WHO:G54.5 neuralgic amyotrophy Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy +MONDO:0017441 MONDO:equivalentTo ICD10WHO:Q71.1 congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present +MONDO:0017442 MONDO:equivalentTo ICD10WHO:Q72.1 congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present +MONDO:0017443 MONDO:equivalentTo ICD10WHO:Q71.2 congenital absence of both forearm and hand Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand +MONDO:0017444 MONDO:equivalentTo ICD10WHO:Q72.2 congenital absence of both lower leg and foot Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot +MONDO:0017450 MONDO:equivalentTo ICD10WHO:Q72.7 split foot Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot +MONDO:0017610 MONDO:equivalentTo ICD10WHO:Q81.0 epidermolysis bullosa simplex Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex +MONDO:0017776 MONDO:equivalentTo ICD10WHO:A43 nocardiosis Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis +MONDO:0017778 MONDO:equivalentTo ICD10WHO:Q80.2 lamellar ichthyosis Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis +MONDO:0017783 MONDO:equivalentTo ICD10WHO:Q45.2 congenital pancreatic cyst Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst +MONDO:0017865 MONDO:equivalentTo ICD10WHO:Q22.1 congenital pulmonary valve stenosis Congenital pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary valve stenosis +MONDO:0017880 MONDO:equivalentTo ICD10WHO:A92.4 Rift valley fever Rift Valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever +MONDO:0017881 MONDO:equivalentTo ICD10WHO:A98.2 Kyasanur forest disease Kyasanur Forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease +MONDO:0018015 MONDO:equivalentTo ICD10WHO:M12.4 intermittent hydrarthrosis Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis +MONDO:0018056 MONDO:equivalentTo ICD10WHO:L43.1 bullous lichen planus Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus +MONDO:0018059 MONDO:equivalentTo ICD10WHO:A39.0 meningococcal meningitis Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis +MONDO:0018076 MONDO:equivalentTo ICD10WHO:A15-A19 tuberculosis Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis +MONDO:0018089 MONDO:equivalentTo ICD10WHO:Q20.1 double outlet right ventricle Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle +MONDO:0018090 MONDO:equivalentTo ICD10WHO:Q20.2 double outlet left ventricle Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle +MONDO:0018166 MONDO:equivalentTo ICD10WHO:K13.5 oral submucous fibrosis Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis +MONDO:0018181 MONDO:equivalentTo ICD10WHO:L00 staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome +MONDO:0018309 MONDO:equivalentTo ICD10WHO:Q43.1 Hirschsprung disease Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease +MONDO:0018312 MONDO:equivalentTo ICD10WHO:B39 histoplasmosis Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis +MONDO:0018326 MONDO:equivalentTo ICD10WHO:P94.0 transient neonatal myasthenia gravis Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis +MONDO:0018683 MONDO:equivalentTo ICD10WHO:L85.0 acquired ichthyosis Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis +MONDO:0018747 MONDO:equivalentTo ICD10WHO:L12.3 acquired epidermolysis bullosa Acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired epidermolysis bullosa +MONDO:0018769 MONDO:equivalentTo ICD10WHO:A07.3 isosporiasis Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis +MONDO:0018815 MONDO:equivalentTo ICD10WHO:M85.5 aneurysmal bone cyst Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst +MONDO:0018824 MONDO:equivalentTo ICD10WHO:L88 pyoderma gangrenosum Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum +MONDO:0018876 MONDO:equivalentTo ICD10WHO:C83.1 mantle cell lymphoma Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma +MONDO:0018879 MONDO:equivalentTo ICD10WHO:L66.1 lichen planopilaris Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris +MONDO:0018905 MONDO:equivalentTo ICD10WHO:C83.3 diffuse large B-cell lymphoma Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma +MONDO:0018906 MONDO:equivalentTo ICD10WHO:C82 follicular lymphoma Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma +MONDO:0018912 MONDO:equivalentTo ICD10WHO:E24 Cushing syndrome Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cushing syndrome +MONDO:0018968 MONDO:equivalentTo ICD10WHO:Q00.2 iniencephaly Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly +MONDO:0018969 MONDO:equivalentTo ICD10WHO:Q00.1 craniorachischisis Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis +MONDO:0019019 MONDO:equivalentTo ICD10WHO:Q78.0 osteogenesis imperfecta Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta +MONDO:0019064 MONDO:equivalentTo ICD10WHO:G11.4 hereditary spastic paraplegia Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia +MONDO:0019065 MONDO:equivalentTo ICD10WHO:E85 amyloidosis Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis +MONDO:0019082 MONDO:equivalentTo ICD10WHO:L12.0 bullous pemphigoid Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid +MONDO:0019084 MONDO:equivalentTo ICD10WHO:K62.7 radiation proctitis Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis +MONDO:0019095 MONDO:equivalentTo ICD10WHO:A20 plague Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague +MONDO:0019121 MONDO:equivalentTo ICD10WHO:B48.5 pneumocystosis Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis +MONDO:0019124 MONDO:equivalentTo ICD10WHO:M31.7 microscopic polyangiitis Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis +MONDO:0019125 MONDO:equivalentTo ICD10WHO:M94.1 relapsing polychondritis Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis +MONDO:0019127 MONDO:equivalentTo ICD10WHO:M33.2 polymyositis Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis +MONDO:0019136 MONDO:equivalentTo ICD10WHO:B46 Zygomycosis Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis +MONDO:0019147 MONDO:equivalentTo ICD10WHO:B87 myiasis Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis +MONDO:0019170 MONDO:equivalentTo ICD10WHO:M30.0 polyarteritis nodosa Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa +MONDO:0019173 MONDO:equivalentTo ICD10WHO:A82 rabies Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies +MONDO:0019186 MONDO:equivalentTo ICD10WHO:A78 Q fever Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever +MONDO:0019209 MONDO:equivalentTo ICD10WHO:A83.0 Japanese encephalitis Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis +MONDO:0019280 MONDO:equivalentTo ICD10WHO:L68 hypertrichosis Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis +MONDO:0019322 MONDO:equivalentTo ICD10WHO:L10.1 pemphigus vegetans Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans +MONDO:0019323 MONDO:equivalentTo ICD10WHO:L10.4 pemphigus erythematosus Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus +MONDO:0019324 MONDO:equivalentTo ICD10WHO:L10.2 pemphigus foliaceus Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus +MONDO:0019338 MONDO:equivalentTo ICD10WHO:D86 sarcoidosis Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis +MONDO:0019345 MONDO:equivalentTo ICD10WHO:A03 shigellosis Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis +MONDO:0019350 MONDO:equivalentTo ICD10WHO:D58.0 hereditary spherocytosis Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis +MONDO:0019355 MONDO:equivalentTo ICD10WHO:M06.1 adult-onset Still disease Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease +MONDO:0019372 MONDO:equivalentTo ICD10WHO:M85.4 solitary bone cyst Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst +MONDO:0019380 MONDO:equivalentTo ICD10WHO:A83.1 western equine encephalitis Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis +MONDO:0019444 MONDO:equivalentTo ICD10WHO:B75 trichinellosis Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis +MONDO:0019455 MONDO:equivalentTo ICD10WHO:C94.4 acute panmyelosis with myelofibrosis Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis +MONDO:0019474 MONDO:equivalentTo ICD10WHO:C86.1 hepatosplenic T-cell lymphoma Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma +MONDO:0019475 MONDO:equivalentTo ICD10WHO:C86.3 subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma +MONDO:0019479 MONDO:equivalentTo ICD10WHO:C96.8 histiocytic sarcoma Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma +MONDO:0019499 MONDO:equivalentTo ICD10WHO:Q96 Turner syndrome Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome +MONDO:0019514 MONDO:equivalentTo ICD10WHO:K76.5 hepatic veno-occlusive disease Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease +MONDO:0019526 MONDO:equivalentTo ICD10WHO:L95.1 erythema elevatum diutinum Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum +MONDO:0019558 MONDO:equivalentTo ICD10WHO:L93.0 discoid lupus erythematosus Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus +MONDO:0019600 MONDO:equivalentTo ICD10WHO:Q82.1 xeroderma pigmentosum Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum +MONDO:0019632 MONDO:equivalentTo ICD10WHO:A69.2 Lyme disease Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease +MONDO:0019636 MONDO:equivalentTo ICD10WHO:Q60.0 renal agenesis, unilateral Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral +MONDO:0019638 MONDO:equivalentTo ICD10WHO:Q61.4 renal dysplasia Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia +MONDO:0019648 MONDO:equivalentTo ICD10WHO:Q77.0 achondrogenesis Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis +MONDO:0019701 MONDO:equivalentTo ICD10WHO:Q77.3 chondrodysplasia punctata Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata +MONDO:0019735 MONDO:equivalentTo ICD10WHO:M35.3 polymyalgia rheumatica Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica +MONDO:0019737 MONDO:equivalentTo ICD10WHO:M31.1 thrombotic microangiopathy Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy +MONDO:0019759 MONDO:equivalentTo ICD10WHO:Q64.0 epispadias Epispadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epispadias +MONDO:0019813 MONDO:equivalentTo ICD10WHO:Q22.4 congenital tricuspid stenosis Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis +MONDO:0019945 MONDO:equivalentTo ICD10WHO:L56.3 solar urticaria Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria +MONDO:0019979 MONDO:equivalentTo ICD10WHO:Q60.3 renal hypoplasia, unilateral Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral +MONDO:0019980 MONDO:equivalentTo ICD10WHO:Q60.4 renal hypoplasia, bilateral Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral +MONDO:0019992 MONDO:equivalentTo ICD10WHO:E20.1 pseudohypoparathyroidism Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism +MONDO:0019993 MONDO:equivalentTo ICD10WHO:Q27.1 congenital renal artery stenosis Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis +MONDO:0020066 MONDO:equivalentTo ICD10WHO:Q79.6 Ehlers-Danlos syndrome Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome +MONDO:0020121 MONDO:equivalentTo ICD10WHO:G71.0 muscular dystrophy Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy +MONDO:0020159 MONDO:equivalentTo ICD10WHO:Q10.2 congenital entropion Congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital entropion +MONDO:0020161 MONDO:equivalentTo ICD10WHO:Q10.1 congenital ectropion Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion +MONDO:0020291 MONDO:equivalentTo ICD10WHO:Q22.6 hypoplastic right heart syndrome Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome +MONDO:0020356 MONDO:equivalentTo ICD10WHO:Q13.0 coloboma of iris Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris +MONDO:0020366 MONDO:equivalentTo ICD10WHO:Q15.0 congenital glaucoma Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma +MONDO:0020398 MONDO:equivalentTo ICD10WHO:Q23.2 congenital mitral stenosis Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis +MONDO:0020502 MONDO:equivalentTo ICD10WHO:A95 yellow fever Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever +MONDO:0020548 MONDO:equivalentTo ICD10WHO:H13.3 ocular pemphigoid Ocular pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular pemphigoid +MONDO:0020568 MONDO:equivalentTo ICD10WHO:B87.0 cutaneous myiasis Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis +MONDO:0020599 MONDO:equivalentTo ICD10WHO:D68.4 acquired coagulation factor deficiency Acquired coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired coagulation factor deficiency +MONDO:0020600 MONDO:equivalentTo ICD10WHO:J02 acute pharyngitis Acute pharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pharyngitis +MONDO:0020601 MONDO:equivalentTo ICD10WHO:A83 mosquito-borne viral encephalitis Mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosquito-borne viral encephalitis +MONDO:0020655 MONDO:equivalentTo ICD10WHO:M08.1 juvenile ankylosing spondylitis Juvenile ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile ankylosing spondylitis +MONDO:0020680 MONDO:equivalentTo ICD10WHO:J21 acute bronchiolitis Acute bronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bronchiolitis +MONDO:0020686 MONDO:equivalentTo ICD10WHO:J03 acute tonsillitis Acute tonsillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tonsillitis +MONDO:0020782 MONDO:equivalentTo ICD10WHO:K05.1 chronic gingivitis Chronic gingivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic gingivitis +MONDO:0020863 MONDO:equivalentTo ICD10WHO:A36.2 laryngeal diphtheria Laryngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal diphtheria +MONDO:0020866 MONDO:equivalentTo ICD10WHO:A36.1 nasopharyngeal diphtheria Nasopharyngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal diphtheria +MONDO:0021002 MONDO:equivalentTo ICD10WHO:Q70 syndactyly Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly +MONDO:0021003 MONDO:equivalentTo ICD10WHO:Q69 polydactyly Polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly +MONDO:0021124 MONDO:equivalentTo ICD10WHO:N97 female infertility Female infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility +MONDO:0021377 MONDO:equivalentTo ICD10WHO:L43.0 hypertrophic lichen planus Hypertrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic lichen planus +MONDO:0021394 MONDO:equivalentTo ICD10WHO:N84.2 polyp of vagina Polyp of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vagina +MONDO:0021396 MONDO:equivalentTo ICD10WHO:N84.3 polyp of vulva Polyp of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vulva +MONDO:0021400 MONDO:equivalentTo ICD10WHO:K63.5 polyp of colon Polyp of colon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of colon +MONDO:0021527 MONDO:equivalentTo ICD10WHO:D32 benign neoplasm of meninges Benign neoplasm of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign neoplasm of meninges +MONDO:0021642 MONDO:equivalentTo ICD10WHO:I86.3 vulval varices Vulval varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulval varices +MONDO:0021723 MONDO:equivalentTo ICD10WHO:N94.2 vaginismus Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus +MONDO:0021750 MONDO:equivalentTo ICD10WHO:N13.6 pyonephrosis Pyonephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyonephrosis +MONDO:0022096 MONDO:equivalentTo ICD10WHO:L98.0 pyogenic granuloma Pyogenic granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic granuloma +MONDO:0022103 MONDO:equivalentTo ICD10WHO:N41.1 chronic prostatitis Chronic prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic prostatitis +MONDO:0022171 MONDO:equivalentTo ICD10WHO:L75.1 chromhidrosis Chromhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromhidrosis +MONDO:0023011 MONDO:equivalentTo ICD10WHO:P27.0 Wilson-Mikity syndrome Wilson-Mikity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-mikity syndrome +MONDO:0023297 MONDO:equivalentTo ICD10WHO:L40.4 guttate psoriasis Guttate psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttate psoriasis +MONDO:0024228 MONDO:equivalentTo ICD10WHO:L74.2 miliaria profunda Miliaria profunda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria profunda +MONDO:0024229 MONDO:equivalentTo ICD10WHO:L74.1 miliaria crystallina Miliaria crystallina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria crystallina +MONDO:0024302 MONDO:equivalentTo ICD10WHO:B83.4 internal hirudiniasis Internal hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internal hirudiniasis +MONDO:0024303 MONDO:equivalentTo ICD10WHO:B88.3 external hirudiniasis External hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external hirudiniasis +MONDO:0024304 MONDO:equivalentTo ICD10WHO:Q80.0 ichthyosis vulgaris Ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris +MONDO:0024333 MONDO:equivalentTo ICD10WHO:M54.3 sciatica Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica +MONDO:0024349 MONDO:equivalentTo ICD10WHO:L30.5 pityriasis alba Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba +MONDO:0024647 MONDO:equivalentTo ICD10WHO:N20-N23 urolithiasis Urolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urolithiasis +MONDO:0024650 MONDO:equivalentTo ICD10WHO:M81.4 drug-induced osteoporosis Drug-induced osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced osteoporosis +MONDO:0024652 MONDO:equivalentTo ICD10WHO:Q50.4 embryonic cyst of fallopian tube Embryonic cyst of fallopian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonic cyst of fallopian tube +MONDO:0026045 MONDO:equivalentTo ICD10WHO:L28.1 prurigo nodularis Prurigo nodularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prurigo nodularis +MONDO:0040925 MONDO:equivalentTo ICD10WHO:A66.8 latent yaws Latent yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label latent yaws +MONDO:0041086 MONDO:equivalentTo ICD10WHO:F41.2 mixed anxiety and depressive disorder Mixed anxiety and depressive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed anxiety and depressive disorder +MONDO:0041366 MONDO:equivalentTo ICD10WHO:J05.1 acute epiglottitis Acute epiglottitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute epiglottitis +MONDO:0042484 MONDO:equivalentTo ICD10WHO:B42.7 disseminated sporotrichosis Disseminated sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated sporotrichosis +MONDO:0043209 MONDO:equivalentTo ICD10WHO:E70.3 albinism Albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label albinism +MONDO:0043224 MONDO:equivalentTo ICD10WHO:F01.1 multi-infarct dementia Multi-infarct dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multi-infarct dementia +MONDO:0043233 MONDO:equivalentTo ICD10WHO:L26 exfoliative dermatitis Exfoliative dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative dermatitis +MONDO:0043237 MONDO:equivalentTo ICD10WHO:K14.6 glossodynia Glossodynia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossodynia +MONDO:0043267 MONDO:equivalentTo ICD10WHO:M05.2 rheumatoid vasculitis Rheumatoid vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid vasculitis +MONDO:0043294 MONDO:equivalentTo ICD10WHO:L94.1 linear scleroderma Linear scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear scleroderma +MONDO:0043310 MONDO:equivalentTo ICD10WHO:G45.3 amaurosis fugax Amaurosis fugax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis fugax +MONDO:0043327 MONDO:equivalentTo ICD10WHO:G96.0 cerebrospinal fluid leak Cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrospinal fluid leak +MONDO:0043468 MONDO:equivalentTo ICD10WHO:L73.0 acne keloid Acne keloid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne keloid +MONDO:0043537 MONDO:equivalentTo ICD10WHO:G44.0 cluster headache syndrome Cluster headache syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cluster headache syndrome +MONDO:0043541 MONDO:equivalentTo ICD10WHO:B30 viral conjunctivitis Viral conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral conjunctivitis +MONDO:0043762 MONDO:equivalentTo ICD10WHO:O00.1 tubal pregnancy Tubal pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubal pregnancy +MONDO:0043765 MONDO:equivalentTo ICD10WHO:H91.1 presbycusis Presbycusis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbycusis +MONDO:0043771 MONDO:equivalentTo ICD10WHO:L58 radiodermatitis Radiodermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiodermatitis +MONDO:0043777 MONDO:equivalentTo ICD10WHO:L71.1 rhinophyma Rhinophyma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinophyma +MONDO:0043783 MONDO:equivalentTo ICD10WHO:P83.0 sclerema neonatorum Sclerema neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerema neonatorum +MONDO:0043975 MONDO:equivalentTo ICD10WHO:G90.4 autonomic dysreflexia Autonomic dysreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autonomic dysreflexia +MONDO:0043994 MONDO:equivalentTo ICD10WHO:K81.0 acute cholecystitis Acute cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cholecystitis +MONDO:0044014 MONDO:equivalentTo ICD10WHO:O90.5 postpartum thyroiditis Postpartum thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum thyroiditis +MONDO:0044211 MONDO:equivalentTo ICD10WHO:L50.1 idiopathic urticaria Idiopathic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic urticaria +MONDO:0044778 MONDO:equivalentTo ICD10WHO:C81.0 nodular lymphocyte predominant Hodgkin lymphoma Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma +MONDO:0044983 MONDO:equivalentTo ICD10WHO:D17 benign lipomatous neoplasm Benign lipomatous neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign lipomatous neoplasm +MONDO:0060766 MONDO:equivalentTo ICD10WHO:K62.0 anal polyp Anal polyp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal polyp +MONDO:0100017 MONDO:equivalentTo ICD10WHO:L44.0 pityriasis rubra pilaris Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris +MONDO:0100076 MONDO:equivalentTo ICD10WHO:M41.1 juvenile idiopathic scoliosis Juvenile idiopathic scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic scoliosis +MONDO:0100309 MONDO:equivalentTo ICD10WHO:G11 hereditary ataxia Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia +MONDO:0100345 MONDO:equivalentTo ICD10WHO:E73 lactose intolerance Lactose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactose intolerance +MONDO:0100347 MONDO:equivalentTo ICD10WHO:E34.0 carcinoid syndrome Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome +MONDO:0100471 MONDO:equivalentTo ICD10WHO:E55 vitamin D deficiency Vitamin D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin d deficiency +MONDO:0100491 MONDO:equivalentTo ICD10WHO:L40.1 generalized pustular psoriasis Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis +MONDO:0400003 MONDO:equivalentTo ICD10WHO:M85.1 skeletal fluorosis Skeletal fluorosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal fluorosis +MONDO:0800175 MONDO:equivalentTo ICD10WHO:R57.0 cardiogenic shock Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock +MONDO:0800177 MONDO:equivalentTo ICD10WHO:T33-T35 frostbite Frostbite semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frostbite +MONDO:0800198 MONDO:equivalentTo ICD10WHO:L63.1 alopecia universalis Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis +MONDO:0850046 MONDO:equivalentTo ICD10WHO:O88.1 amniotic fluid embolism Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism +MONDO:0850231 MONDO:equivalentTo ICD10WHO:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum +MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid +MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 86f48e9a..a4a9df1a 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -1,11 +1,9 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated OMIMPS:610799 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0000169 microphthalmia, isolated, with cataract OMIMPS:156850 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0000204 obsolete skin creases, congenital symmetric circumferential OMIMPS:156610 MONDO:equivalentTo Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO:0000218 obsolete preimplantation embryonic lethality OMIMPS:616814 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T OMIM:613740 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0002010 FG syndrome OMIMPS:305400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007061 obsolete acylase, cobalt-activated OMIM:102590 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007139 obsolete Antipyrine metabolism OMIM:107290 MONDO:equivalentTo antipyrine metabolism semapv:UnspecifiedMatching MONDO:0007331 obsolete cleft chin OMIM:119000 MONDO:equivalentTo cleft chin semapv:UnspecifiedMatching @@ -66,7 +64,6 @@ MONDO:0014763 obsolete Bombay phenotype OMIM:616754 MONDO:equivalentTo bombay ph MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency OMIM:616903 MONDO:equivalentTo thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 OMIM:616958 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014978 obsolete preimplantation embryonic lethality 2 OMIM:617234 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching -MONDO:0017138 Opitz G/BBB syndrome OMIMPS:300000 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency OMIM:615057 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss OMIM:103470 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia OMIM:300537 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -84,13 +81,11 @@ MONDO:0020621 obsolete blood group--scianna system OMIM:111750 MONDO:equivalentT MONDO:0020622 obsolete blood group--stoltzfus system OMIM:111800 MONDO:equivalentTo blood group--stoltzfus system semapv:UnspecifiedMatching MONDO:0020625 obsolete blood group--wright antigen OMIM:112050 MONDO:equivalentTo blood group--wright antigen semapv:UnspecifiedMatching MONDO:0020626 obsolete yt blood group antigen OMIM:112100 MONDO:equivalentTo yt blood group antigen semapv:UnspecifiedMatching -MONDO:0020627 epileptic encephalopathy, infantile or early childhood OMIMPS:617711 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0020668 obsolete spastic paraplegia 5B OMIM:600146 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome OMIM:163955 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 OMIM:175020 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0024996 obsolete Usher syndrome, type 2b OMIM:276905 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0027416 obsolete retinal cone dystrophy 2 OMIM:601251 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in OMIMPS:227220 MONDO:equivalentTo Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 OMIM:618979 MONDO:equivalentTo high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO:0033552 obsolete blood group, lewis system OMIM:618983 MONDO:equivalentTo blood group, lewis system semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index 5efc4360..cbe842af 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -4,6 +4,8 @@ MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 de MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:142700 LEXMATCH MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d000082602 LEXMATCH MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:142700 LEXMATCH +MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:142700 LEXMATCH +MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:142700 LEXMATCH MONDO:0002601 teratoma skos:closeMatch DOID:0080602 benign teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9080/1 LEXMATCH MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020031 LEXMATCH MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d020031 LEXMATCH @@ -15,6 +17,8 @@ MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:136520 LEXMATCH MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract LEXMATCH MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136520 LEXMATCH +MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:136520 LEXMATCH +MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:136520 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9179 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 LEXMATCH @@ -23,15 +27,21 @@ MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 Nort MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:136550 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c537835 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136550 LEXMATCH +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:136550 LEXMATCH +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:136550 LEXMATCH MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch DOID:0080763 diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse gastric cancer LEXMATCH MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142700 LEXMATCH MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:142700 LEXMATCH MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142700 LEXMATCH +MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:142700 LEXMATCH +MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:142700 LEXMATCH MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym ichthyosis exfoliativa LEXMATCH MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym ichthyosis exfoliativa LEXMATCH MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:149730 LEXMATCH MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:149730 LEXMATCH MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:149730 LEXMATCH +MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:149730 LEXMATCH +MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:149730 LEXMATCH MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12925 LEXMATCH MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000071070 LEXMATCH MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 LEXMATCH @@ -40,19 +50,29 @@ MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familia MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:151900 LEXMATCH MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d000071070 LEXMATCH MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151900 LEXMATCH +MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:151900 LEXMATCH +MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:151900 LEXMATCH MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 LEXMATCH MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:162210 LEXMATCH MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162210 LEXMATCH +MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:162210 LEXMATCH +MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:162210 LEXMATCH MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166800 LEXMATCH MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:166800 LEXMATCH MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166800 LEXMATCH +MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:166800 LEXMATCH +MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:166800 LEXMATCH MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193520 LEXMATCH MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:193520 LEXMATCH MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193520 LEXMATCH +MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:193520 LEXMATCH +MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:193520 LEXMATCH MONDO:0008978 chordoma skos:closeMatch DOID:0081417 poorly differentiated chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9370/3 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:220110 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220110 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:220110 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:220110 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:48 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated cytochrome c oxidase deficiency LEXMATCH MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch DOID:0080400 orofacial cleft 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft 7 LEXMATCH @@ -62,9 +82,13 @@ MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:clo MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 2 LEXMATCH MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 LEXMATCH MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239300 LEXMATCH +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:239300 LEXMATCH +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:239300 LEXMATCH MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:256040 LEXMATCH MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:256040 LEXMATCH MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:256040 LEXMATCH +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:256040 LEXMATCH +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:256040 LEXMATCH MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency LEXMATCH MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:117 LEXMATCH MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536632 LEXMATCH @@ -77,6 +101,8 @@ MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Gi MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel giedion syndrome LEXMATCH MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536632 LEXMATCH MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269150 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:269150 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:269150 LEXMATCH MONDO:0010033 generalized peeling skin syndrome skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome 1 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5621 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562584 LEXMATCH @@ -84,6 +110,8 @@ MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:278300 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562584 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278300 LEXMATCH +MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:278300 LEXMATCH +MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:278300 LEXMATCH MONDO:0010857 semantic dementia skos:closeMatch DOID:0081391 semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10792 LEXMATCH MONDO:0010913 Caroli disease skos:closeMatch DOID:0081394 Caroli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:6002 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5620 LEXMATCH @@ -92,9 +120,13 @@ MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:603592 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566358 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603592 LEXMATCH +MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:603592 LEXMATCH +MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:603592 LEXMATCH MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605727 LEXMATCH MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:605727 LEXMATCH MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605727 LEXMATCH +MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:605727 LEXMATCH +MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:605727 LEXMATCH MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia 1 LEXMATCH MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564309 LEXMATCH MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 LEXMATCH @@ -103,15 +135,21 @@ MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis bullosa of siemens-like LEXMATCH MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c564309 LEXMATCH MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607936 LEXMATCH +MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:607936 LEXMATCH +MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:607936 LEXMATCH MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562746 LEXMATCH MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608051 LEXMATCH MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c562746 LEXMATCH MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608051 LEXMATCH MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562746 LEXMATCH MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608051 LEXMATCH +MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608051 LEXMATCH +MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608051 LEXMATCH MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608244 LEXMATCH MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608244 LEXMATCH MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608244 LEXMATCH +MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608244 LEXMATCH +MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608244 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9842 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535754 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 LEXMATCH @@ -119,23 +157,33 @@ MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:007 MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c535754 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608779 LEXMATCH +MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608779 LEXMATCH +MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608779 LEXMATCH MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608787 LEXMATCH MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608787 LEXMATCH MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608787 LEXMATCH +MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608787 LEXMATCH +MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608787 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608850 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608850 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608850 LEXMATCH +MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608850 LEXMATCH +MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608850 LEXMATCH MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 LEXMATCH MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609218 LEXMATCH MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasExactSynonym oio:hasNarrowSynonym fhonda syndrome LEXMATCH MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis LEXMATCH MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label foveal hypoplasia 2 LEXMATCH MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609218 LEXMATCH +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609218 LEXMATCH +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609218 LEXMATCH MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609446 LEXMATCH MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609446 LEXMATCH MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia LEXMATCH MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609446 LEXMATCH +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609446 LEXMATCH +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609446 LEXMATCH MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12863 LEXMATCH MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536316 LEXMATCH MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 LEXMATCH @@ -145,6 +193,8 @@ MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling s MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome 2 LEXMATCH MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536316 LEXMATCH MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609796 LEXMATCH +MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609796 LEXMATCH +MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609796 LEXMATCH MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12913 LEXMATCH MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567020 LEXMATCH MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 LEXMATCH @@ -154,6 +204,8 @@ MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:clos MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pretzel syndrome LEXMATCH MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567020 LEXMATCH MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611087 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611087 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611087 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10714 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 LEXMATCH @@ -163,21 +215,31 @@ MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semap MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c548032 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611431 LEXMATCH +MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611431 LEXMATCH +MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611431 LEXMATCH MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611571 LEXMATCH MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611571 LEXMATCH MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611571 LEXMATCH +MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611571 LEXMATCH +MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611571 LEXMATCH MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611572 LEXMATCH MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611572 LEXMATCH MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611572 LEXMATCH +MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611572 LEXMATCH +MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611572 LEXMATCH MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10740 LEXMATCH MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 LEXMATCH MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10740 LEXMATCH MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611913 LEXMATCH MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome 16p11.2 deletion syndrome, 593-kb LEXMATCH MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611913 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611913 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611913 LEXMATCH MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612096 LEXMATCH MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:612096 LEXMATCH MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612096 LEXMATCH +MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:612096 LEXMATCH +MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:612096 LEXMATCH MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10484 LEXMATCH MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567730 LEXMATCH MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10484 LEXMATCH @@ -188,76 +250,116 @@ MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:clo MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 8 LEXMATCH MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 LEXMATCH MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614207 LEXMATCH +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614207 LEXMATCH +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614207 LEXMATCH MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614749 LEXMATCH MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614749 LEXMATCH MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 6 LEXMATCH MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs2 LEXMATCH MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614749 LEXMATCH +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614749 LEXMATCH +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614749 LEXMATCH MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615228 LEXMATCH MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615228 LEXMATCH MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615228 LEXMATCH +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615228 LEXMATCH +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615228 LEXMATCH MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615589 LEXMATCH MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615589 LEXMATCH MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615589 LEXMATCH +MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615589 LEXMATCH +MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615589 LEXMATCH MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615612 LEXMATCH MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615612 LEXMATCH MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615612 LEXMATCH +MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615612 LEXMATCH +MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615612 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615670 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis 2 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615670 LEXMATCH +MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615670 LEXMATCH +MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615670 LEXMATCH MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615716 LEXMATCH MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615716 LEXMATCH MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615716 LEXMATCH +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615716 LEXMATCH +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615716 LEXMATCH MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 LEXMATCH MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 LEXMATCH MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615889 LEXMATCH MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615889 LEXMATCH +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615889 LEXMATCH +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615889 LEXMATCH MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 LEXMATCH MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615919 LEXMATCH MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcna-related progressive neurodegenerative photosensitivity syndrome LEXMATCH MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615919 LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615919 LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615919 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616025 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 11 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs5 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616025 LEXMATCH +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616025 LEXMATCH +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616025 LEXMATCH MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 LEXMATCH MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616265 LEXMATCH MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome 3 LEXMATCH MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616265 LEXMATCH +MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616265 LEXMATCH +MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616265 LEXMATCH MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13111 LEXMATCH MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 LEXMATCH MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616267 LEXMATCH MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616267 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616267 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616267 LEXMATCH MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 LEXMATCH MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616295 LEXMATCH MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads LEXMATCH MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616295 LEXMATCH +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616295 LEXMATCH +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616295 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616809 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616809 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616809 LEXMATCH +MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616809 LEXMATCH +MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616809 LEXMATCH MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617115 LEXMATCH MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617115 LEXMATCH MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617115 LEXMATCH +MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617115 LEXMATCH +MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617115 LEXMATCH MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617116 LEXMATCH MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617116 LEXMATCH MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617116 LEXMATCH +MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617116 LEXMATCH +MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617116 LEXMATCH MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617118 LEXMATCH MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617118 LEXMATCH MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617118 LEXMATCH +MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617118 LEXMATCH +MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617118 LEXMATCH MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617159 LEXMATCH MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617159 LEXMATCH MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome LEXMATCH MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617159 LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617159 LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617159 LEXMATCH MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 LEXMATCH MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617183 LEXMATCH MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617183 LEXMATCH +MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617183 LEXMATCH +MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617183 LEXMATCH MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13488 LEXMATCH MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617282 LEXMATCH MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617282 LEXMATCH MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia 29, childhood-onset LEXMATCH MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617282 LEXMATCH +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617282 LEXMATCH +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617282 LEXMATCH MONDO:0015059 progressive non-fluent aphasia skos:closeMatch DOID:0081390 progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10793 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8815/1 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH @@ -267,6 +369,8 @@ MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch DOID MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:239300 LEXMATCH MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:239300 LEXMATCH MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:239300 LEXMATCH +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:239300 LEXMATCH +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:239300 LEXMATCH MONDO:0016644 logopenic progressive aphasia skos:closeMatch DOID:0081389 logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10791 LEXMATCH MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH MONDO:0016695 oligodendroglioma skos:closeMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9450/3 LEXMATCH @@ -278,377 +382,635 @@ MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMat MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13594 LEXMATCH MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618049 LEXMATCH MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618049 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618049 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618049 LEXMATCH MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13423 LEXMATCH MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 LEXMATCH MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616878 LEXMATCH MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616878 LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616878 LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616878 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:151623 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151623 LEXMATCH +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:151623 LEXMATCH +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:151623 LEXMATCH MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 LEXMATCH MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:117550 LEXMATCH MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos1 LEXMATCH MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117550 LEXMATCH +MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:117550 LEXMATCH +MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:117550 LEXMATCH MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9400/3 LEXMATCH MONDO:0019806 primary progressive aphasia skos:closeMatch DOID:0081388 primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8541 LEXMATCH MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13295 LEXMATCH MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:604364 LEXMATCH MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:604364 LEXMATCH MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:604364 LEXMATCH +MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:604364 LEXMATCH +MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:604364 LEXMATCH MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree leukoencephalopathy LEXMATCH MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115430 LEXMATCH MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:115430 LEXMATCH MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115430 LEXMATCH +MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:115430 LEXMATCH +MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:115430 LEXMATCH MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 LEXMATCH MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:266100 LEXMATCH MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency LEXMATCH MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266100 LEXMATCH +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:266100 LEXMATCH +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:266100 LEXMATCH MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618387 LEXMATCH MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618387 LEXMATCH MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618387 LEXMATCH +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618387 LEXMATCH +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618387 LEXMATCH MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618120 LEXMATCH MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618120 LEXMATCH MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618120 LEXMATCH +MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618120 LEXMATCH +MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618120 LEXMATCH MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 LEXMATCH MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:106210 LEXMATCH MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106210 LEXMATCH +MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:106210 LEXMATCH +MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:106210 LEXMATCH MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 LEXMATCH MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:162091 LEXMATCH MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis 1 LEXMATCH MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162091 LEXMATCH +MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:162091 LEXMATCH +MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:162091 LEXMATCH MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 LEXMATCH MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:270300 LEXMATCH MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270300 LEXMATCH +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:270300 LEXMATCH +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:270300 LEXMATCH MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604364 LEXMATCH MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:604364 LEXMATCH MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604364 LEXMATCH +MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:604364 LEXMATCH +MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:604364 LEXMATCH MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 LEXMATCH MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:604391 LEXMATCH MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604391 LEXMATCH +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:604391 LEXMATCH +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:604391 LEXMATCH MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618832 LEXMATCH MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618832 LEXMATCH MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618832 LEXMATCH +MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618832 LEXMATCH +MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618832 LEXMATCH MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618855 LEXMATCH MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618855 LEXMATCH MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618855 LEXMATCH +MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618855 LEXMATCH +MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618855 LEXMATCH MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618912 LEXMATCH MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618912 LEXMATCH MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618912 LEXMATCH +MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618912 LEXMATCH +MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618912 LEXMATCH MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618960 LEXMATCH MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618960 LEXMATCH MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618960 LEXMATCH +MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618960 LEXMATCH +MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618960 LEXMATCH MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619386 LEXMATCH MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619386 LEXMATCH MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619386 LEXMATCH +MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619386 LEXMATCH +MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619386 LEXMATCH MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619425 LEXMATCH MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619425 LEXMATCH MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619425 LEXMATCH +MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619425 LEXMATCH +MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619425 LEXMATCH MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619477 LEXMATCH MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619477 LEXMATCH MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619477 LEXMATCH +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619477 LEXMATCH +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619477 LEXMATCH MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619478 LEXMATCH MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619478 LEXMATCH MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619478 LEXMATCH +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619478 LEXMATCH +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619478 LEXMATCH MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619423 LEXMATCH MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619423 LEXMATCH MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619423 LEXMATCH +MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619423 LEXMATCH +MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619423 LEXMATCH MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619737 LEXMATCH MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619737 LEXMATCH MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619737 LEXMATCH +MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619737 LEXMATCH +MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619737 LEXMATCH MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619780 LEXMATCH MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619780 LEXMATCH MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619780 LEXMATCH +MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619780 LEXMATCH +MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619780 LEXMATCH MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619112 LEXMATCH MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619112 LEXMATCH MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619112 LEXMATCH +MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619112 LEXMATCH +MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619112 LEXMATCH MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619161 LEXMATCH MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619161 LEXMATCH MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619161 LEXMATCH +MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619161 LEXMATCH +MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619161 LEXMATCH MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 LEXMATCH MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619133 LEXMATCH MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619133 LEXMATCH +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619133 LEXMATCH +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619133 LEXMATCH MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 LEXMATCH MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619175 LEXMATCH MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619175 LEXMATCH +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619175 LEXMATCH +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619175 LEXMATCH MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619183 LEXMATCH MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619183 LEXMATCH MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619183 LEXMATCH +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619183 LEXMATCH +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619183 LEXMATCH MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 LEXMATCH MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619216 LEXMATCH MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619216 LEXMATCH +MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619216 LEXMATCH +MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619216 LEXMATCH MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 LEXMATCH MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619216 LEXMATCH MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619216 LEXMATCH +MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619216 LEXMATCH +MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619216 LEXMATCH MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619966 LEXMATCH MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619966 LEXMATCH MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619966 LEXMATCH +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619966 LEXMATCH +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619966 LEXMATCH MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:136550 LEXMATCH MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:136550 LEXMATCH MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:136550 LEXMATCH +MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:136550 LEXMATCH +MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:136550 LEXMATCH MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:616901 LEXMATCH MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:616901 LEXMATCH MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:616901 LEXMATCH +MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:616901 LEXMATCH +MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:616901 LEXMATCH MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 LEXMATCH MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618500 LEXMATCH MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618500 LEXMATCH +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618500 LEXMATCH +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618500 LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618528 LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618528 LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome 16 (hepatic type) LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618528 LEXMATCH +MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618528 LEXMATCH +MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618528 LEXMATCH MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618567 LEXMATCH MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618567 LEXMATCH MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 17 LEXMATCH MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618567 LEXMATCH +MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618567 LEXMATCH +MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618567 LEXMATCH MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 LEXMATCH MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618810 LEXMATCH MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome LEXMATCH MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618810 LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618810 LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618810 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618811 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618811 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 18 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618811 LEXMATCH +MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618811 LEXMATCH +MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618811 LEXMATCH MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618815 LEXMATCH MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618815 LEXMATCH MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant LEXMATCH MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618815 LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618815 LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618815 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618972 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 19 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618972 LEXMATCH +MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618972 LEXMATCH +MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618972 LEXMATCH MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619033 LEXMATCH MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619033 LEXMATCH MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619033 LEXMATCH +MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619033 LEXMATCH +MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619033 LEXMATCH MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619046 LEXMATCH MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619046 LEXMATCH MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619046 LEXMATCH +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619046 LEXMATCH +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619046 LEXMATCH MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619048 LEXMATCH MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619048 LEXMATCH MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619048 LEXMATCH +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619048 LEXMATCH +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619048 LEXMATCH MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619051 LEXMATCH MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619051 LEXMATCH MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619051 LEXMATCH +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619051 LEXMATCH +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619051 LEXMATCH MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619052 LEXMATCH MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619052 LEXMATCH MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619052 LEXMATCH +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619052 LEXMATCH +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619052 LEXMATCH MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619053 LEXMATCH MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619053 LEXMATCH MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619053 LEXMATCH +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619053 LEXMATCH +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619053 LEXMATCH MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619054 LEXMATCH MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619054 LEXMATCH MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619054 LEXMATCH +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619054 LEXMATCH +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619054 LEXMATCH MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619055 LEXMATCH MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619055 LEXMATCH MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619055 LEXMATCH +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619055 LEXMATCH +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619055 LEXMATCH MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619058 LEXMATCH MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619058 LEXMATCH MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619058 LEXMATCH +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619058 LEXMATCH +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619058 LEXMATCH MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619059 LEXMATCH MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619059 LEXMATCH MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619059 LEXMATCH +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619059 LEXMATCH +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619059 LEXMATCH MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619060 LEXMATCH MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619060 LEXMATCH MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619060 LEXMATCH +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619060 LEXMATCH +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619060 LEXMATCH MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619061 LEXMATCH MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619061 LEXMATCH MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619061 LEXMATCH +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619061 LEXMATCH +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619061 LEXMATCH MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619062 LEXMATCH MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619062 LEXMATCH MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619062 LEXMATCH +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619062 LEXMATCH +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619062 LEXMATCH MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619063 LEXMATCH MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619063 LEXMATCH MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619063 LEXMATCH +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619063 LEXMATCH +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619063 LEXMATCH MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619064 LEXMATCH MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619064 LEXMATCH MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619064 LEXMATCH +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619064 LEXMATCH +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619064 LEXMATCH MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619065 LEXMATCH MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619065 LEXMATCH MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619065 LEXMATCH +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619065 LEXMATCH +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619065 LEXMATCH MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617439 LEXMATCH MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617439 LEXMATCH MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617439 LEXMATCH +MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617439 LEXMATCH +MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617439 LEXMATCH MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13658 LEXMATCH MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 LEXMATCH MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13658 LEXMATCH MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617672 LEXMATCH MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617672 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617672 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617672 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:607095 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607095 LEXMATCH +MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:607095 LEXMATCH +MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:607095 LEXMATCH MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 LEXMATCH MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617591 LEXMATCH MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617591 LEXMATCH +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617591 LEXMATCH +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617591 LEXMATCH MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 LEXMATCH MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618048 LEXMATCH MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618048 LEXMATCH +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618048 LEXMATCH +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618048 LEXMATCH MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 LEXMATCH MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617892 LEXMATCH MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617892 LEXMATCH +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617892 LEXMATCH +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617892 LEXMATCH MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617935 LEXMATCH MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617935 LEXMATCH MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617935 LEXMATCH +MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617935 LEXMATCH +MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617935 LEXMATCH MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 LEXMATCH MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:613135 LEXMATCH MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613135 LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613135 LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:613135 LEXMATCH MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618084 LEXMATCH MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618084 LEXMATCH MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618084 LEXMATCH +MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618084 LEXMATCH +MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618084 LEXMATCH MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 LEXMATCH MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617755 LEXMATCH MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617755 LEXMATCH +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617755 LEXMATCH +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617755 LEXMATCH MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617921 LEXMATCH MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617921 LEXMATCH MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617921 LEXMATCH +MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617921 LEXMATCH +MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617921 LEXMATCH MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620062 LEXMATCH MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620062 LEXMATCH MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620062 LEXMATCH +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620062 LEXMATCH +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620062 LEXMATCH MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 LEXMATCH MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616901 LEXMATCH MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome LEXMATCH MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616901 LEXMATCH +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616901 LEXMATCH +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616901 LEXMATCH MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym ovarioleukodystrophy LEXMATCH MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619333 LEXMATCH MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619333 LEXMATCH MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619333 LEXMATCH +MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619333 LEXMATCH +MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619333 LEXMATCH MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619355 LEXMATCH MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619355 LEXMATCH MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619355 LEXMATCH +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619355 LEXMATCH +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619355 LEXMATCH MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619480 LEXMATCH MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619480 LEXMATCH MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619480 LEXMATCH +MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619480 LEXMATCH +MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619480 LEXMATCH MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619648 LEXMATCH MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619648 LEXMATCH MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619648 LEXMATCH +MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619648 LEXMATCH +MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619648 LEXMATCH MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619681 LEXMATCH MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619681 LEXMATCH MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619681 LEXMATCH +MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619681 LEXMATCH +MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619681 LEXMATCH MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619701 LEXMATCH MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619701 LEXMATCH MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619701 LEXMATCH +MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619701 LEXMATCH +MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619701 LEXMATCH MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619743 LEXMATCH MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619743 LEXMATCH MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619743 LEXMATCH +MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619743 LEXMATCH +MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619743 LEXMATCH MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619908 LEXMATCH MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619908 LEXMATCH MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619908 LEXMATCH +MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619908 LEXMATCH +MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619908 LEXMATCH MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620011 LEXMATCH MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620011 LEXMATCH MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620011 LEXMATCH +MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620011 LEXMATCH +MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620011 LEXMATCH MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620070 LEXMATCH MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620070 LEXMATCH MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620070 LEXMATCH +MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620070 LEXMATCH +MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620070 LEXMATCH MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620080 LEXMATCH MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620080 LEXMATCH MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620080 LEXMATCH +MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620080 LEXMATCH +MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620080 LEXMATCH MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620106 LEXMATCH MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620106 LEXMATCH MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620106 LEXMATCH +MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620106 LEXMATCH +MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620106 LEXMATCH MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620139 LEXMATCH MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620139 LEXMATCH MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620139 LEXMATCH +MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620139 LEXMATCH +MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620139 LEXMATCH MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620167 LEXMATCH MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620167 LEXMATCH MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620167 LEXMATCH +MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620167 LEXMATCH +MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620167 LEXMATCH MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620199 LEXMATCH MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620199 LEXMATCH MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620199 LEXMATCH +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620199 LEXMATCH +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620199 LEXMATCH MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620221 LEXMATCH MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620221 LEXMATCH MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620221 LEXMATCH +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620221 LEXMATCH +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620221 LEXMATCH MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620275 LEXMATCH MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620275 LEXMATCH MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620275 LEXMATCH +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620275 LEXMATCH +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620275 LEXMATCH MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620285 LEXMATCH MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620285 LEXMATCH MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620285 LEXMATCH +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620285 LEXMATCH +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620285 LEXMATCH MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619977 LEXMATCH MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619977 LEXMATCH MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619977 LEXMATCH +MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619977 LEXMATCH +MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619977 LEXMATCH MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620192 LEXMATCH MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620192 LEXMATCH MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620192 LEXMATCH +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620192 LEXMATCH +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620192 LEXMATCH MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620193 LEXMATCH MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620193 LEXMATCH MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620193 LEXMATCH +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620193 LEXMATCH +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620193 LEXMATCH MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301107 LEXMATCH MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301107 LEXMATCH MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301107 LEXMATCH +MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301107 LEXMATCH +MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301107 LEXMATCH MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620310 LEXMATCH MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620310 LEXMATCH MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620310 LEXMATCH +MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620310 LEXMATCH +MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620310 LEXMATCH MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620323 LEXMATCH MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620323 LEXMATCH MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620323 LEXMATCH +MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620323 LEXMATCH +MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620323 LEXMATCH MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620326 LEXMATCH MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620326 LEXMATCH MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620326 LEXMATCH +MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620326 LEXMATCH +MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620326 LEXMATCH MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620351 LEXMATCH MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620351 LEXMATCH MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620351 LEXMATCH +MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620351 LEXMATCH +MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620351 LEXMATCH MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620352 LEXMATCH MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620352 LEXMATCH MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620352 LEXMATCH +MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620352 LEXMATCH +MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620352 LEXMATCH MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620358 LEXMATCH MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620358 LEXMATCH MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620358 LEXMATCH +MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620358 LEXMATCH +MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620358 LEXMATCH MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620359 LEXMATCH MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620359 LEXMATCH MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620359 LEXMATCH +MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620359 LEXMATCH +MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620359 LEXMATCH MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620369 LEXMATCH MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620369 LEXMATCH MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620369 LEXMATCH +MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620369 LEXMATCH +MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620369 LEXMATCH MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620379 LEXMATCH MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620379 LEXMATCH MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620379 LEXMATCH +MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620379 LEXMATCH +MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620379 LEXMATCH MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620386 LEXMATCH MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620386 LEXMATCH MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620386 LEXMATCH +MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620386 LEXMATCH +MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620386 LEXMATCH MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620389 LEXMATCH MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620389 LEXMATCH MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620389 LEXMATCH +MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620389 LEXMATCH +MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620389 LEXMATCH MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620416 LEXMATCH MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620416 LEXMATCH MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620416 LEXMATCH +MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620416 LEXMATCH +MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620416 LEXMATCH MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620417 LEXMATCH MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620417 LEXMATCH MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620417 LEXMATCH +MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620417 LEXMATCH +MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620417 LEXMATCH MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620428 LEXMATCH MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620428 LEXMATCH MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620428 LEXMATCH +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620428 LEXMATCH +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620428 LEXMATCH MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620452 LEXMATCH MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620452 LEXMATCH MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620452 LEXMATCH +MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620452 LEXMATCH +MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620452 LEXMATCH MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620455 LEXMATCH MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620455 LEXMATCH MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620455 LEXMATCH +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620455 LEXMATCH +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620455 LEXMATCH MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620482 LEXMATCH MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620482 LEXMATCH MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620482 LEXMATCH +MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620482 LEXMATCH +MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620482 LEXMATCH MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620489 LEXMATCH MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620489 LEXMATCH MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620489 LEXMATCH +MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620489 LEXMATCH +MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620489 LEXMATCH MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620312 LEXMATCH MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620312 LEXMATCH MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620312 LEXMATCH +MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620312 LEXMATCH +MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620312 LEXMATCH MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620313 LEXMATCH MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620313 LEXMATCH MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620313 LEXMATCH +MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620313 LEXMATCH +MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620313 LEXMATCH MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620314 LEXMATCH MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620314 LEXMATCH MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620314 LEXMATCH +MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620314 LEXMATCH +MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620314 LEXMATCH MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620315 LEXMATCH MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620315 LEXMATCH MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620315 LEXMATCH +MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620315 LEXMATCH +MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620315 LEXMATCH MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620402 LEXMATCH MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620402 LEXMATCH MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620402 LEXMATCH +MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620402 LEXMATCH +MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620402 LEXMATCH MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620528 LEXMATCH MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620528 LEXMATCH MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620528 LEXMATCH +MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620528 LEXMATCH +MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620528 LEXMATCH MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620542 LEXMATCH MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620542 LEXMATCH MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620542 LEXMATCH +MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620542 LEXMATCH +MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620542 LEXMATCH MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620576 LEXMATCH MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620576 LEXMATCH MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620576 LEXMATCH +MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620576 LEXMATCH +MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620576 LEXMATCH +MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620150 LEXMATCH +MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620150 LEXMATCH +MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620150 LEXMATCH +MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620150 LEXMATCH +MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620150 LEXMATCH +MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620343 LEXMATCH +MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620343 LEXMATCH +MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620343 LEXMATCH +MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620343 LEXMATCH +MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620343 LEXMATCH +MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620344 LEXMATCH +MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620344 LEXMATCH +MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620344 LEXMATCH +MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620344 LEXMATCH +MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620344 LEXMATCH +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620465 LEXMATCH +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620465 LEXMATCH +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620465 LEXMATCH +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620465 LEXMATCH +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620465 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv index 03329648..1a595949 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv @@ -1,76 +1,15 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0070365 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:377 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:377 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch umls:c0004779 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0070365 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:7166 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0070365 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:377 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0070365 LEXMATCH -MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:169147 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11719 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:270 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:11719 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:7245 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11719 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:270 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:11719 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3534 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:501 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:501 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch umls:c0751783 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:3534 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:8214 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, 2a LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disease LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melf LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3534 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:501 LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:3534 LEXMATCH MONDO:0009697 Lafora disease skos:closeMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, 2b LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060645 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:324964 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:324964 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch umls:c0410422 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0060645 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:6108 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, chronic multifocal LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060645 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:324964 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0060645 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:104 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:104 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:9268 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:407 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:9268 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:7219 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, nonketotic LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, transient neonatal LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:9268 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:407 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:9268 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0070363 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:75374 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0070363 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:12299 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0070363 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:75374 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch OMIM:608415 prolonged electroretinal response suppression 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0070363 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0111277 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:746 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:746 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0111277 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:3684 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0111277 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:746 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0111277 LEXMATCH -MONDO:0013343 C1Q deficiency skos:closeMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12958 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:289863 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:17334 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:289863 LEXMATCH -MONDO:0015397 craniofacial microsomia skos:closeMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:2907 LEXMATCH -MONDO:0015397 craniofacial microsomia skos:closeMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:2907 LEXMATCH -MONDO:0015397 craniofacial microsomia skos:closeMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculovertebral sequence LEXMATCH -MONDO:0015397 craniofacial microsomia skos:closeMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fav sequence LEXMATCH -MONDO:0015397 craniofacial microsomia skos:closeMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:2907 LEXMATCH -MONDO:0015397 craniofacial microsomia skos:closeMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:2907 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:169147 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:15025 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:169147 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:289857 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:17332 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:289857 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:289860 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:17333 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:289860 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv index 8c15cdfe..187f6962 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv @@ -1,9 +1,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIMPS:305450 FG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018875 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:0018875 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:3012 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch OMIMPS:601104 Supranuclear palsy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supranuclear palsy, progressive LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index 35a768c1..8d4baf6a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -9,30 +9,40 @@ MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Kerato MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria LEXMATCH MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148200 LEXMATCH MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c1835697 LEXMATCH +MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:148200 LEXMATCH MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150550 LEXMATCH MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150550 LEXMATCH +MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:150550 LEXMATCH MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch Orphanet:34145 Immunoglobulin A nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berger disease LEXMATCH MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:658602 Transplant-related bronchiolitis obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176400 LEXMATCH +MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:176400 LEXMATCH MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600987 LEXMATCH MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600987 LEXMATCH +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:600987 LEXMATCH MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 LEXMATCH MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606069 LEXMATCH +MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606069 LEXMATCH MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616277 LEXMATCH MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency LEXMATCH MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616277 LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616277 LEXMATCH MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565736 LEXMATCH MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604916 LEXMATCH MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c565736 LEXMATCH MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 LEXMATCH MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616863 LEXMATCH +MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616863 LEXMATCH MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617159 LEXMATCH MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617159 LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617159 LEXMATCH MONDO:0015999 primary pigmented nodular adrenocortical disease skos:closeMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4304832 LEXMATCH MONDO:0015999 primary pigmented nodular adrenocortical disease skos:closeMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4304832 LEXMATCH MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphocytic mastopathy LEXMATCH @@ -40,30 +50,43 @@ MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic ma MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic mastitis LEXMATCH MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:158810 LEXMATCH MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:158810 LEXMATCH MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301082 LEXMATCH MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301082 LEXMATCH +MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301082 LEXMATCH MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:closeMatch Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618944 LEXMATCH MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:closeMatch Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618944 LEXMATCH +MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:closeMatch Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618944 LEXMATCH MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619751 LEXMATCH MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619751 LEXMATCH +MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619751 LEXMATCH MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:closeMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619127 LEXMATCH MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:closeMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619127 LEXMATCH +MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:closeMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619127 LEXMATCH MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618493 LEXMATCH MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618493 LEXMATCH +MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618493 LEXMATCH MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:closeMatch Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618523 LEXMATCH MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:closeMatch Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618523 LEXMATCH +MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:closeMatch Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618523 LEXMATCH MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618604 LEXMATCH MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-fisher syndrome LEXMATCH MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618604 LEXMATCH +MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618604 LEXMATCH MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch Orphanet:658595 DNMT3A-related microcephalic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heyn-sproul-jackson syndrome LEXMATCH MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:closeMatch Orphanet:653709 Cone rod dystrophy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617547 LEXMATCH MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:closeMatch Orphanet:653709 Cone rod dystrophy-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617547 LEXMATCH +MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:closeMatch Orphanet:653709 Cone rod dystrophy-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617547 LEXMATCH MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617641 LEXMATCH MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617641 LEXMATCH +MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617641 LEXMATCH MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch Orphanet:658813 Methylenetetrahydrofolate dehydrogenase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylenetetrahydrofolate dehydrogenase 1 deficiency LEXMATCH MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:closeMatch Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619752 LEXMATCH MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:closeMatch Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619752 LEXMATCH +MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:closeMatch Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619752 LEXMATCH MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:closeMatch Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620375 LEXMATCH MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:closeMatch Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620375 LEXMATCH +MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:closeMatch Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620375 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index bde00789..c4e019a7 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -241,3 +241,7 @@ MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos: MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620528 LEXMATCH MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620542 LEXMATCH MONDO:0957928 otosclerosis 11 skos:exactMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620576 LEXMATCH +MONDO:0958184 epidermolytic hyperkeratosis 2 skos:exactMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620150 LEXMATCH +MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620343 LEXMATCH +MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620344 LEXMATCH +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620465 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index c11a698d..b70a4a6f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -2,8 +2,6 @@ subject_id subject_label predicate_id object_id object_label mapping_justificati MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:377 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch OMIM:109400 basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch umls:c0004779 LEXMATCH MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -16,7 +14,6 @@ MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch O MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy, oculopharyngeal LEXMATCH MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -26,8 +23,8 @@ MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:2 MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:324964 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIM:259680 chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch umls:c0410422 LEXMATCH +MONDO:0009697 Lafora disease skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:501 LEXMATCH +MONDO:0009697 Lafora disease skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch umls:c0751783 LEXMATCH MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -48,15 +45,12 @@ MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:746 LEXMATCH MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013343 C1Q deficiency skos:exactMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym c1q deficiency LEXMATCH -MONDO:0013343 C1Q deficiency skos:exactMatch OMIM:613652 c1q deficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym c1q deficiency LEXMATCH MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -68,11 +62,6 @@ MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay pheno MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015397 craniofacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldenhar syndrome LEXMATCH -MONDO:0015397 craniofacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemifacial microsomia LEXMATCH -MONDO:0015397 craniofacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oav dysplasia LEXMATCH -MONDO:0015397 craniofacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculoauriculovertebral dysplasia LEXMATCH -MONDO:0015397 craniofacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculoauriculovertebral spectrum LEXMATCH MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -130,4 +119,3 @@ MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 b MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800306 epilepsy, progressive myoclonic, 2b skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, 2b LEXMATCH -MONDO:0800331 hyperglycinemia, transient neonatal skos:exactMatch OMIM:605899 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperglycinemia, transient neonatal LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv index ea3aa4bf..cf5434b3 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -1,15 +1,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000169 microphthalmia, isolated, with cataract skos:exactMatch OMIMPS:156850 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000204 obsolete skin creases, congenital symmetric circumferential skos:exactMatch OMIMPS:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002010 FG syndrome skos:exactMatch OMIMPS:305400 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002010 FG syndrome skos:exactMatch OMIMPS:305450 FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome LEXMATCH -MONDO:0009697 Lafora disease skos:exactMatch OMIMPS:254780 Myoclonic epilepsy of Lafora semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic epilepsy of lafora LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIMPS:601104 Supranuclear palsy, progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supranuclear palsy, progressive LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIMPS:300000 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome LEXMATCH -MONDO:0020627 epileptic encephalopathy, infantile or early childhood skos:exactMatch OMIMPS:617711 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch OMIMPS:105500 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 2697c738..6b8c1edd 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -126,3 +126,6 @@ MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impair MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 DOID:0081428 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620402 MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 DOID:0081400 MONDO:equivalentTo autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620528 MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 DOID:0081429 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620542 +MONDO:0958189 basal cell nevus syndrome 2 DOID:0070366 MONDO:equivalentTo nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620343 +MONDO:0958190 prolonged electroretinal response suppression 2 DOID:0070364 MONDO:equivalentTo bradyopsia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620344 +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay DOID:0070472 MONDO:equivalentTo early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620465 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index 96394354..d0195763 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -79,3 +79,4 @@ MONDO:0957871 leukoencephalopathy with vanishing white matter 3 DOID:0070372 MON MONDO:0957872 leukoencephalopathy with vanishing white matter 4 DOID:0070371 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620314 MONDO:0957873 leukoencephalopathy with vanishing white matter 5 DOID:0070367 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620315 MONDO:0957928 otosclerosis 11 DOID:0060928 MONDO:equivalentTo otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620576 +MONDO:0958184 epidermolytic hyperkeratosis 2 DOID:0081359 MONDO:equivalentTo epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620150 diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 0e09037e..6f19bf24 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -1,19 +1,5 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0007187 nevoid basal cell carcinoma syndrome OMIM:109400 MONDO:equivalentTo basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:377 -MONDO:0007187 nevoid basal cell carcinoma syndrome OMIM:109400 MONDO:equivalentTo basal cell nevus syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch umls:c0004779 -MONDO:0008116 oculopharyngeal muscular dystrophy OMIM:164300 MONDO:equivalentTo oculopharyngeal muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy, oculopharyngeal -MONDO:0009697 Lafora disease OMIMPS:254780 MONDO:equivalentTo Myoclonic epilepsy of Lafora semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic epilepsy of lafora -MONDO:0009813 chronic recurrent multifocal osteomyelitis OMIM:259680 MONDO:equivalentTo chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:324964 -MONDO:0009813 chronic recurrent multifocal osteomyelitis OMIM:259680 MONDO:equivalentTo chronic recurrent multifocal osteomyelitis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch umls:c0410422 -MONDO:0010997 supranuclear palsy, progressive, 1 OMIMPS:601104 MONDO:equivalentTo Supranuclear palsy, progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supranuclear palsy, progressive -MONDO:0012172 mitochondrial trifunctional protein deficiency OMIM:609015 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:746 -MONDO:0013343 C1Q deficiency OMIM:613652 MONDO:equivalentTo c1q deficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym c1q deficiency -MONDO:0013343 C1Q deficiency OMIM:613652 MONDO:equivalentTo c1q deficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym c1q deficiency -MONDO:0015397 craniofacial microsomia OMIM:164210 MONDO:equivalentTo craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldenhar syndrome -MONDO:0015397 craniofacial microsomia OMIM:164210 MONDO:equivalentTo craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemifacial microsomia -MONDO:0015397 craniofacial microsomia OMIM:164210 MONDO:equivalentTo craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oav dysplasia -MONDO:0015397 craniofacial microsomia OMIM:164210 MONDO:equivalentTo craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculoauriculovertebral dysplasia -MONDO:0015397 craniofacial microsomia OMIM:164210 MONDO:equivalentTo craniofacial microsomia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculoauriculovertebral spectrum +MONDO:0009697 Lafora disease OMIM:254780 MONDO:equivalentTo myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch orphanet:501 +MONDO:0009697 Lafora disease OMIM:254780 MONDO:equivalentTo myoclonic epilepsy of lafora 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch umls:c0751783 MONDO:0800306 epilepsy, progressive myoclonic, 2b OMIM:620681 MONDO:equivalentTo myoclonic epilepsy of lafora 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, 2b -MONDO:0800331 hyperglycinemia, transient neonatal OMIM:605899 MONDO:equivalentTo glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperglycinemia, transient neonatal diff --git a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv index 2dc73690..8e18c48f 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv @@ -1,4 +1,3 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0002010 FG syndrome OMIMPS:305450 MONDO:equivalentTo FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome MONDO:0018875 Li-Fraumeni syndrome OMIMPS:151623 MONDO:equivalentTo Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 514941d2..dc474708 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 2, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 286a6d90..fbfd5859 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index b95f50db..3cd2e84f 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 3642ddc8..75001b7e 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 366b5366..6a9667e5 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index b6027eee..9eea9e4f 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -2,12 +2,12 @@ "metrics": { "abox_axiom_count": 0, "abox_axiom_count_incl": 0, - "annotation_property_count": 13, - "annotation_property_count_incl": 13, - "axiom_count": 320535, - "axiom_count_incl": 320535, - "class_count": 19392, - "class_count_incl": 19392, + "annotation_property_count": 16, + "annotation_property_count_incl": 16, + "axiom_count": 344611, + "axiom_count_incl": 344611, + "class_count": 19399, + "class_count_incl": 19399, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 19160, - "logical_axiom_count_incl": 19160, - "obj_property_count": 6, - "obj_property_count_incl": 6, + "logical_axiom_count": 22561, + "logical_axiom_count_incl": 22561, + "obj_property_count": 7, + "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 19413, - "signature_entity_count_incl": 19413, + "signature_entity_count": 19424, + "signature_entity_count_incl": 19424, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 19160, - "tbox_axiom_count_incl": 19160, - "tboxrbox_axiom_count": 19160, - "tboxrbox_axiom_count_incl": 19160, + "tbox_axiom_count": 22561, + "tbox_axiom_count_incl": 22561, + "tboxrbox_axiom_count": 22561, + "tboxrbox_axiom_count_incl": 22561, "axiom_types": [ "AnnotationAssertion", "Declaration", @@ -63,22 +63,22 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 281968, - "Declaration": 19407, - "SubClassOf": 19160 + "AnnotationAssertion": 302632, + "Declaration": 19418, + "SubClassOf": 22561 }, "axiom_type_count_incl": { - "AnnotationAssertion": 281968, - "Declaration": 19407, - "SubClassOf": 19160 + "AnnotationAssertion": 302632, + "Declaration": 19418, + "SubClassOf": 22561 }, "class_expression_count": { - "Class": 57706, - "ObjectSomeValuesFrom": 14306 + "Class": 64513, + "ObjectSomeValuesFrom": 17706 }, "class_expression_count_incl": { - "Class": 57706, - "ObjectSomeValuesFrom": 14306 + "Class": 64513, + "ObjectSomeValuesFrom": 17706 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -94,33 +94,33 @@ "RO": "http://purl.obolibrary.org/obo/RO_" }, "namespace_axiom_count": { - "prefix_unknown": 50159, - "oboInOwl": 91167, - "MONDO": 18970, - "rdf": 7146, + "prefix_unknown": 87276, + "oboInOwl": 91178, + "MONDO": 18971, + "rdf": 20852, "owl": 1359, "IAO": 55201, - "skos": 60014, - "rdfs": 36423, - "biolink": 33235, - "CHR": 7547, - "RO": 14312 + "skos": 80655, + "rdfs": 39824, + "biolink": 36637, + "CHR": 7550, + "RO": 17713 }, "namespace_axiom_count_incl": { - "prefix_unknown": 50159, - "oboInOwl": 91167, - "MONDO": 18970, - "rdf": 7146, + "prefix_unknown": 87276, + "oboInOwl": 91178, + "MONDO": 18971, + "rdf": 20852, "owl": 1359, "IAO": 55201, - "skos": 60014, - "rdfs": 36423, - "biolink": 33235, - "CHR": 7547, - "RO": 14312 + "skos": 80655, + "rdfs": 39824, + "biolink": 36637, + "CHR": 7550, + "RO": 17713 }, "namespace_entity_count": { - "prefix_unknown": 17946, + "prefix_unknown": 17956, "MONDO": 1, "oboInOwl": 3, "owl": 2, @@ -131,10 +131,10 @@ "rdfs": 2, "CHR": 1446, "biolink": 2, - "RO": 6 + "RO": 7 }, "namespace_entity_count_incl": { - "prefix_unknown": 17946, + "prefix_unknown": 17956, "MONDO": 1, "oboInOwl": 3, "owl": 2, @@ -145,7 +145,7 @@ "rdfs": 2, "CHR": 1446, "biolink": 2, - "RO": 6 + "RO": 7 }, "owl2dl_profile_violation": {} } diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 85b54bf2..b1989872 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -4,8 +4,8 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 8, "annotation_property_count_incl": 8, - "axiom_count": 155842, - "axiom_count_incl": 155842, + "axiom_count": 162312, + "axiom_count_incl": 162312, "class_count": 14917, "class_count_incl": 14917, "dataproperty_count": 0, @@ -26,7 +26,7 @@ "obj_property_count_incl": 3, "ontology_anno_count": 0, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-04/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-02-09/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -63,12 +63,12 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 98435, + "AnnotationAssertion": 104905, "Declaration": 14926, "SubClassOf": 42481 }, "axiom_type_count_incl": { - "AnnotationAssertion": 98435, + "AnnotationAssertion": 104905, "Declaration": 14926, "SubClassOf": 42481 }, @@ -91,7 +91,7 @@ }, "namespace_axiom_count": { "prefix_unknown": 99879, - "oboInOwl": 115766, + "oboInOwl": 122236, "rdf": 36280, "owl": 1391, "IAO": 6833, @@ -100,7 +100,7 @@ }, "namespace_axiom_count_incl": { "prefix_unknown": 99879, - "oboInOwl": 115766, + "oboInOwl": 122236, "rdf": 36280, "owl": 1391, "IAO": 6833, diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index b7254d78..07a22b16 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -3566,6 +3566,7 @@ + @@ -6905,6 +6906,7 @@ + @@ -7024,6 +7026,7 @@ + @@ -9491,6 +9494,7 @@ + @@ -10073,6 +10077,7 @@ + @@ -12169,7 +12174,6 @@ - @@ -14155,6 +14159,7 @@ + @@ -17755,7 +17760,584 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -18239,6 +18821,7 @@ + @@ -18787,7 +19370,6 @@ - @@ -18816,575 +19398,3 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index f7c73fc6..74fd1dac 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -994,8 +994,6 @@ MONDO:0007700 hawkinsinuria MONDO:0000426 DOID:0111362 DOID:0050736 autosomal do MONDO:0007701 progressive familial heart block type II MONDO:0000426 DOID:0111075 DOID:0050736 autosomal dominant disease MONDO:0007705 Heinz body anemia MONDO:0000426 DOID:0111363 DOID:0050736 autosomal dominant disease MONDO:0007705 Heinz body anemia MONDO:0006506 DOID:0111363 DOID:2861 congenital nonspherocytic hemolytic anemia -MONDO:0007709 hematuria, benign familial, 1 MONDO:0000426 DOID:0111365 DOID:0050736 autosomal dominant disease -MONDO:0007709 hematuria, benign familial, 1 MONDO:0002118 DOID:0111365 DOID:18 urinary system disorder MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0011399 DOID:0110029 DOID:1099 alpha thalassemia MONDO:0007718 hepatic adenomas, familial MONDO:0006025 DOID:0111366 DOID:0050737 autosomal recessive disease MONDO:0007726 hip dysplasia, Beukes type MONDO:0000426 DOID:0111367 DOID:0050736 autosomal dominant disease @@ -2251,7 +2249,6 @@ MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0000426 DOID:01 MONDO:0012024 retinitis pigmentosa 26 MONDO:0006025 DOID:0110368 DOID:0050737 autosomal recessive disease MONDO:0012031 platelet-type bleeding disorder 10 MONDO:0006025 DOID:0111046 DOID:0050737 autosomal recessive disease MONDO:0012033 bradyopsia MONDO:0006025 DOID:0050335 DOID:0050737 autosomal recessive disease -MONDO:0012033 bradyopsia MONDO:0012033 DOID:0070363 DOID:0050335 bradyopsia MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0006025 DOID:0080563 DOID:0050737 autosomal recessive disease MONDO:0012054 schizophrenia 12 MONDO:0000426 DOID:0070088 DOID:0050736 autosomal dominant disease MONDO:0012056 Leber congenital amaurosis 9 MONDO:0006025 DOID:0110005 DOID:0050737 autosomal recessive disease @@ -3581,7 +3578,6 @@ MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0000426 DOID:0081268 DOID: MONDO:0020716 familial thyroid dyshormonogenesis 1 MONDO:0006025 DOID:0112185 DOID:0050737 autosomal recessive disease MONDO:0020717 autosomal dominant wooly hair MONDO:0000426 DOID:0111573 DOID:0050736 autosomal dominant disease MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0020605 DOID:0060063 DOID:0080012 X-linked recessive disease -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0008171 DOID:0080652 DOID:585 nephrolithiasis MONDO:0020723 vitamin D-dependent rickets, type 1A MONDO:0006025 DOID:0080886 DOID:0050737 autosomal recessive disease MONDO:0020727 combined oxidative phosphorylation deficiency 22 MONDO:0006025 DOID:0111498 DOID:0050737 autosomal recessive disease MONDO:0020729 autosomal recessive agammaglobulinemia 1 MONDO:0006025 DOID:0081136 DOID:0050737 autosomal recessive disease @@ -4200,6 +4196,8 @@ MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0006025 DOID:0081345 D MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0006025 DOID:0081339 DOID:0050737 autosomal recessive disease MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0006025 DOID:0070403 DOID:0050737 autosomal recessive disease MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0000426 DOID:0081340 DOID:0050736 autosomal dominant disease +MONDO:0957317 hematuria, benign familial MONDO:0000426 DOID:0111365 DOID:0050736 autosomal dominant disease +MONDO:0957317 hematuria, benign familial MONDO:0002118 DOID:0111365 DOID:18 urinary system disorder MONDO:8000006 WHIM syndrome 1 MONDO:0000426 DOID:0060591 DOID:0050736 autosomal dominant disease MONDO:8000006 WHIM syndrome 1 MONDO:0003778 DOID:0060591 DOID:612 inborn error of immunity MONDO:8000008 Martsolf syndrome 1 MONDO:0006025 DOID:0111586 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index fd6235e7..0373461f 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -7968,6 +7968,7 @@ MONDO:0859690 malignant cystadenoma MONDO:0850125 DOID:60004 DOID:0080364 malign MONDO:0859747 grade I lymphomatoid granulomatosis MONDO:0019466 DOID:0081308 DOID:0081307 lymphomatoid granulomatosis MONDO:0859748 grade II lymphomatoid granulomatosis MONDO:0019466 DOID:0081309 DOID:0081307 lymphomatoid granulomatosis MONDO:0859749 grade III lymphomatoid granulomatosis MONDO:0019466 DOID:0081310 DOID:0081307 lymphomatoid granulomatosis +MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID:0070363 DOID:0050335 bradyopsia MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 3b1c98d5..e3abdc59 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -43449,6 +43449,34 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index fafb424f..57631972 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -1,4 +1,1450 @@ ?term + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 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cleft MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0021094 OMIM:608957 OMIMPS:300755 immunodeficiency disease MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0019625 OMIM:609192 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection -MONDO:0012316 Majeed syndrome MONDO:0009813 OMIM:609628 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0023961 OMIM:609629 OMIMPS:243180 visceral neuropathy, familial MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 OMIM:609750 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0012339 celiac disease, susceptibility to, 4 MONDO:0005130 OMIM:609753 OMIMPS:212750 celiac disease @@ -149,7 +148,6 @@ MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to MONDO:0005 MONDO:0012959 psoriasis 11, susceptibility to MONDO:0005083 OMIM:612599 OMIMPS:177900 psoriasis MONDO:0012990 Leber congenital amaurosis 13 MONDO:0019200 OMIM:612712 OMIMPS:268000 retinitis pigmentosa MONDO:0013020 narcolepsy 5, susceptibility to MONDO:0021107 OMIM:612851 OMIMPS:161400 narcolepsy -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0009813 OMIM:612852 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:0005579 OMIM:612899 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0013057 psoriasis 12, susceptibility to MONDO:0005083 OMIM:612950 OMIMPS:177900 psoriasis MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0005579 OMIM:613060 OMIMPS:600669 epilepsy, idiopathic generalized @@ -238,13 +236,11 @@ MONDO:0014786 IgA nephropathy, susceptibility to, 3 MONDO:0005342 OMIM:616818 OM MONDO:0014838 Coffin-Siris syndrome 5 MONDO:0100172 OMIM:616938 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014883 hypertrophic cardiomyopathy 26 MONDO:0016340 OMIM:617047 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 MONDO:0015244 OMIM:617133 OMIMPS:213200 autosomal recessive cerebellar ataxia -MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent MONDO:0957599 OMIM:617290 OMIMPS:617290 epilepsy, early-onset MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0005500 OMIM:219200 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0019200 retinitis pigmentosa MONDO:0019200 OMIM:268000 OMIMPS:268000 retinitis pigmentosa MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 MONDO:0100062 OMIM:617711 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 MONDO:0100062 OMIM:617829 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 MONDO:0100062 OMIM:618012 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0957318 OMIM:167030 OMIMPS:167030 nephrolithiasis, calcium oxalate MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 MONDO:0010826 OMIM:600131 OMIMPS:600131 childhood absence epilepsy MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 MONDO:0011876 OMIM:607631 OMIMPS:607631 juvenile absence epilepsy MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0021094 OMIM:618042 OMIMPS:300755 immunodeficiency disease @@ -255,7 +251,6 @@ MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 MONDO:0000166 OM MONDO:0026730 Basilicata-Akhtar syndrome MONDO:0020119 OMIM:301032 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0027407 Kleefstra syndrome 1 MONDO:0100172 OMIM:610253 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 MONDO:0100062 OMIM:618143 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0957599 OMIM:618832 OMIMPS:617290 epilepsy, early-onset MONDO:0030071 retinitis pigmentosa 89 MONDO:0019200 OMIM:618955 OMIMPS:268000 retinitis pigmentosa MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 MONDO:0000166 OMIM:619396 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0000166 OMIM:619441 OMIMPS:610551 encephalopathy, acute, infection-induced diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 74851557..d21e7a0b 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -392,7 +392,6 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009681 Ullrich congenital muscular dystrophy 1 MONDO:0000355 OMIM:254090 OMIMPS:254090 Ullrich congenital muscular dystrophy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0015152 OMIM:254110 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 OMIM:254210 OMIMPS:601462 congenital myasthenic syndrome -MONDO:0009697 Lafora disease MONDO:0020074 OMIM:254780 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 OMIM:254800 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 OMIM:254900 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0019952 OMIM:255160 OMIMPS:117000 congenital myopathy @@ -505,6 +504,7 @@ MONDO:0010289 intellectual disability, X-linked 72 MONDO:0019181 OMIM:300271 OMI MONDO:0010290 goiter, multinodular 2 MONDO:0000334 OMIM:300273 OMIMPS:138800 multinodular goiter MONDO:0010294 X-linked severe congenital neutropenia MONDO:0018542 OMIM:300299 OMIMPS:202700 severe congenital neutropenia MONDO:0010296 immunodeficiency 61 MONDO:0015977 OMIM:300310 OMIMPS:601495 agammaglobulinemia +MONDO:0010297 FG syndrome 2 MONDO:0002010 OMIM:300321 OMIMPS:305450 FG syndrome MONDO:0010300 intellectual disability, X-linked 53 MONDO:0019181 OMIM:300324 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010305 creatine transporter deficiency MONDO:0000456 OMIM:300352 OMIMPS:300352 cerebral creatine deficiency syndrome MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0020119 OMIM:300354 OMIMPS:309510 X-linked syndromic intellectual disability @@ -512,7 +512,9 @@ MONDO:0010307 intellectual disability, X-linked 73 MONDO:0019181 OMIM:300355 OMI MONDO:0010309 intellectual disability, X-linked 42 MONDO:0019181 OMIM:300372 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010313 intellectual disability, X-linked 63 MONDO:0019181 OMIM:300387 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0031520 OMIM:300400 OMIMPS:601457 familial severe combined immunodeficiency +MONDO:0010316 FG syndrome 3 MONDO:0002010 OMIM:300406 OMIMPS:305450 FG syndrome MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 OMIM:300419 OMIMPS:309530 non-syndromic X-linked intellectual disability +MONDO:0010318 FG syndrome 4 MONDO:0002010 OMIM:300422 OMIMPS:305450 FG syndrome MONDO:0010320 retinitis pigmentosa 23 MONDO:0019200 OMIM:300424 OMIMPS:268000 retinitis pigmentosa MONDO:0010321 autism, susceptibility to, X-linked 1 MONDO:0020836 OMIM:300425 OMIMPS:209850 autism, susceptiblity to MONDO:0010322 intellectual disability, X-linked 2 MONDO:0019181 OMIM:300428 OMIMPS:309530 non-syndromic X-linked intellectual disability @@ -537,6 +539,7 @@ MONDO:0010359 Dent disease type 2 MONDO:0015612 OMIM:300555 OMIMPS:300009 Dent d MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 OMIM:300558 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010362 glycogen storage disease IXd MONDO:0002412 OMIM:300559 OMIMPS:232200 disorder of glycogen metabolism MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 OMIM:300577 OMIMPS:309530 non-syndromic X-linked intellectual disability +MONDO:0010366 FG syndrome 5 MONDO:0002010 OMIM:300581 OMIMPS:305450 FG syndrome MONDO:0010369 nystagmus 5, congenital, X-linked MONDO:0005712 OMIM:300589 OMIMPS:310700 congenital nystagmus MONDO:0010370 Cornelia de Lange syndrome 2 MONDO:0016033 OMIM:300590 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0010373 premature ovarian failure 2B MONDO:0019852 OMIM:300604 OMIMPS:311360 inherited primary ovarian failure @@ -622,6 +625,7 @@ MONDO:0010542 dilated cardiomyopathy 3B MONDO:0016333 OMIM:302045 OMIMPS:115200 MONDO:0010543 Barth syndrome MONDO:0017359 OMIM:302060 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020119 OMIM:304340 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO:0019516 OMIM:305390 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0010590 FG syndrome 1 MONDO:0002010 OMIM:305450 OMIMPS:305450 FG syndrome MONDO:0010600 granulomatous disease, chronic, X-linked MONDO:0018305 OMIM:306400 OMIMPS:306400 chronic granulomatous disease MONDO:0010606 hernia, anterior diaphragmatic MONDO:0005711 OMIM:306950 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0010607 heterotaxy, visceral, 1, X-linked MONDO:0018677 OMIM:306955 OMIMPS:306955 visceral heterotaxy @@ -704,6 +708,7 @@ MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 OMIM MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0021944 OMIM:601071 OMIMPS:609129 auditory neuropathy MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 OMIM:601072 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MONDO:0019180 OMIM:601101 OMIMPS:187300 hereditary hemorrhagic telangiectasia +MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 OMIM:601104 OMIMPS:601104 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 OMIM:601110 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 OMIM:601144 OMIMPS:601144 Brugada syndrome MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A MONDO:0015626 OMIM:601152 OMIMPS:118220 Charcot-Marie-Tooth disease @@ -1113,6 +1118,7 @@ MONDO:0012270 Tukel syndrome MONDO:0007614 OMIM:609428 OMIMPS:135700 congenital MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 MONDO:0019588 OMIM:609439 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012274 acromesomelic dysplasia 3 MONDO:0019696 OMIM:609441 OMIMPS:602875 acromesomelic dysplasia MONDO:0012277 myofibrillar myopathy 4 MONDO:0018943 OMIM:609452 OMIMPS:601419 myofibrillar myopathy +MONDO:0012278 supranuclear palsy, progressive, 2 MONDO:0019037 OMIM:609454 OMIMPS:601104 progressive supranuclear palsy MONDO:0012285 left ventricular noncompaction 2 MONDO:0018901 OMIM:609470 OMIMPS:604169 left ventricular noncompaction MONDO:0012289 myofibrillar myopathy 5 MONDO:0018943 OMIM:609524 OMIMPS:601419 myofibrillar myopathy MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 MONDO:0019588 OMIM:609533 OMIMPS:220290 hearing loss, autosomal recessive @@ -1128,6 +1134,7 @@ MONDO:0012309 parietal foramina 2 MONDO:0018953 OMIM:609597 OMIMPS:168500 pariet MONDO:0012312 short QT syndrome type 1 MONDO:0000453 OMIM:609620 OMIMPS:609620 short QT syndrome MONDO:0012313 short QT syndrome type 2 MONDO:0000453 OMIM:609621 OMIMPS:609620 short QT syndrome MONDO:0012314 short QT syndrome type 3 MONDO:0000453 OMIM:609622 OMIMPS:609620 short QT syndrome +MONDO:0012316 Majeed syndrome MONDO:0009813 OMIM:609628 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0012320 migraine, familial hemiplegic, 3 MONDO:0000700 OMIM:609634 OMIMPS:141500 familial hemiplegic migraine MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 MONDO:0019588 OMIM:609646 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 MONDO:0019588 OMIM:609647 OMIMPS:220290 hearing loss, autosomal recessive @@ -1244,6 +1251,7 @@ MONDO:0012567 autism, susceptibility to, 12 MONDO:0020836 OMIM:610838 OMIMPS:209 MONDO:0012569 mitral valve prolapse, myxomatous 3 MONDO:0008004 OMIM:610840 OMIMPS:157700 familial mitral valve prolapse MONDO:0012571 primary ciliary dyskinesia 6 MONDO:0016575 OMIM:610852 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012573 vesicoureteral reflux 2 MONDO:0017329 OMIM:610878 OMIMPS:193000 familial vesicoureteral reflux +MONDO:0012576 supranuclear palsy, progressive, 3 MONDO:0019037 OMIM:610898 OMIMPS:601104 progressive supranuclear palsy MONDO:0012578 autism, susceptibility to, 13 MONDO:0020836 OMIM:610908 OMIMPS:209850 autism, susceptiblity to MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0012580 OMIM:610921 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0012583 tooth agenesis, selective, 5 MONDO:0005486 OMIM:610926 OMIMPS:106600 tooth agenesis @@ -1444,6 +1452,7 @@ MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 MONDO:0019588 OMI MONDO:0013011 atrial septal defect 5 MONDO:0006664 OMIM:612794 OMIMPS:108800 atrial septal defect MONDO:0013012 inflammatory bowel disease 27 MONDO:0005265 OMIM:612796 OMIMPS:266600 inflammatory bowel disease MONDO:0013015 Brugada syndrome 5 MONDO:0015263 OMIM:612838 OMIMPS:601144 Brugada syndrome +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0009813 OMIM:612852 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0013022 restless legs syndrome, susceptibility to, 7 MONDO:0100170 OMIM:612853 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0013023 orofacial cleft 12 MONDO:0000358 OMIM:612858 OMIMPS:119530 orofacial cleft MONDO:0013029 cerebellar ataxia type 9 MONDO:0020380 OMIM:612876 OMIMPS:164400 autosomal dominant cerebellar ataxia @@ -2469,6 +2478,7 @@ MONDO:0015001 atrial fibrillation, familial, 18 MONDO:0018054 OMIM:617280 OMIMPS MONDO:0015002 developmental and epileptic encephalopathy, 49 MONDO:0100062 OMIM:617281 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0044807 OMIM:617282 OMIMPS:128100 inherited dystonia MONDO:0015004 dystonia 28, childhood-onset MONDO:0044807 OMIM:617284 OMIMPS:128100 inherited dystonia +MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent MONDO:0957599 OMIM:617290 OMIMPS:617290 epilepsy, early-onset MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0017610 OMIM:617294 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0015009 lymphatic malformation 7 MONDO:0019313 OMIM:617300 OMIMPS:153100 lymphatic malformation MONDO:0015011 optic atrophy 11 MONDO:0043878 OMIM:617302 OMIMPS:165500 hereditary optic atrophy @@ -2503,6 +2513,7 @@ MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid e MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 OMIM:400044 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0009937 OMIM:265450 OMIMPS:265450 pulmonary venoocclusive disease MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0020099 OMIM:300751 OMIMPS:300751 inherited sideroblastic anemia +MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0957318 OMIM:167030 OMIMPS:167030 nephrolithiasis, calcium oxalate MONDO:0020724 cerebral cavernous malformation 1 MONDO:0031037 OMIM:116860 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:0000608 OMIM:174000 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0020730 carpal tunnel syndrome 1 MONDO:0007275 OMIM:115430 OMIMPS:115430 carpal tunnel syndrome @@ -2671,6 +2682,7 @@ MONDO:0029147 spermatogenic failure 33 MONDO:0004983 OMIM:618152 OMIMPS:258150 s MONDO:0029148 spermatogenic failure 34 MONDO:0004983 OMIM:618153 OMIMPS:258150 spermatogenic failure MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 MONDO:0100172 OMIM:617863 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030004 autism, susceptibility to, 20 MONDO:0020836 OMIM:618830 OMIMPS:209850 autism, susceptiblity to +MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0957599 OMIM:618832 OMIMPS:617290 epilepsy, early-onset MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 OMIM:618835 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 OMIM:618838 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030008 combined oxidative phosphorylation deficiency 42 MONDO:0000732 OMIM:618839 OMIMPS:609060 combined oxidative phosphorylation deficiency @@ -3683,6 +3695,32 @@ MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant MONDO:00185 MONDO:0958018 leukodystrophy, hypomyelinating, 27 MONDO:0019046 OMIM:620675 OMIMPS:312080 leukodystrophy MONDO:0958022 lipodystrophy, familial partial, type 8 MONDO:0020088 OMIM:620679 OMIMPS:151660 familial partial lipodystrophy MONDO:0958023 lipodystrophy, congenital generalized, type 5 MONDO:0006536 OMIM:620680 OMIMPS:608594 congenital generalized lipodystrophy +MONDO:0958030 immunodeficiency 118 MONDO:0021094 OMIM:301115 OMIMPS:300755 immunodeficiency disease +MONDO:0958035 premature ovarian failure 23 MONDO:0019852 OMIM:620686 OMIMPS:311360 inherited primary ovarian failure +MONDO:0958174 basal cell nevus syndrome 1 MONDO:0007187 OMIM:109400 OMIMPS:109400 nevoid basal cell carcinoma syndrome +MONDO:0958175 craniofacial microsomia 1 MONDO:0015397 OMIM:164210 OMIMPS:164210 craniofacial microsomia +MONDO:0958176 oculopharyngeal muscular dystrophy 1 MONDO:0008116 OMIM:164300 OMIMPS:164300 oculopharyngeal muscular dystrophy +MONDO:0958177 chronic recurrent multifocal osteomyelitis 3 MONDO:0009813 OMIM:259680 OMIMPS:609628 chronic recurrent multifocal osteomyelitis +MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 MONDO:0957400 OMIM:301108 OMIMPS:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +MONDO:0958179 glycine encephalopathy 1 MONDO:0011612 OMIM:605899 OMIMPS:605899 glycine encephalopathy +MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 OMIM:608415 OMIMPS:608415 bradyopsia +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 MONDO:0012172 OMIM:609015 OMIMPS:609015 mitochondrial trifunctional protein deficiency +MONDO:0958182 C1Q deficiency 1 MONDO:0013343 OMIM:613652 OMIMPS:613652 C1Q deficiency +MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0030309 OMIM:619382 OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive +MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0957316 OMIM:620150 OMIMPS:113800 epidermolytic hyperkeratosis +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 MONDO:0012172 OMIM:620300 OMIMPS:609015 mitochondrial trifunctional protein deficiency +MONDO:0958186 hematuria, benign familial, 2 MONDO:0957317 OMIM:620320 OMIMPS:141200 hematuria, benign familial +MONDO:0958187 C1Q deficiency 2 MONDO:0013343 OMIM:620321 OMIMPS:613652 C1Q deficiency +MONDO:0958188 C1Q deficiency 3 MONDO:0013343 OMIM:620322 OMIMPS:613652 C1Q deficiency +MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 OMIM:620343 OMIMPS:109400 nevoid basal cell carcinoma syndrome +MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 OMIM:620344 OMIMPS:608415 bradyopsia +MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis MONDO:0957318 OMIM:620374 OMIMPS:167030 nephrolithiasis, calcium oxalate +MONDO:0958192 glycine encephalopathy 2 MONDO:0011612 OMIM:620398 OMIMPS:605899 glycine encephalopathy +MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 MONDO:0957400 OMIM:620425 OMIMPS:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +MONDO:0958194 craniofacial microsomia 2 MONDO:0015397 OMIM:620444 OMIMPS:164210 craniofacial microsomia +MONDO:0958195 oculopharyngeal muscular dystrophy 2 MONDO:0008116 OMIM:620460 OMIMPS:164300 oculopharyngeal muscular dystrophy +MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0957599 OMIM:620465 OMIMPS:617290 epilepsy, early-onset +MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 MONDO:0030309 OMIM:620569 OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index 13df27f9..2af08d66 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17447,6 +17447,8 @@ OMIM:620637 MONDO:excludeGene OMIM:620638 MONDO:excludeGene OMIM:620640 MONDO:excludeGene OMIM:620643 MONDO:excludeGene +OMIM:620644 MONDO:excludeGene +OMIM:620645 MONDO:excludeGene OMIM:620648 MONDO:excludeGene OMIM:620649 MONDO:excludeGene OMIM:620650 MONDO:excludeGene @@ -17468,6 +17470,16 @@ OMIM:620684 MONDO:excludeGene OMIM:620685 MONDO:excludeGene OMIM:620689 MONDO:excludeGene OMIM:620691 MONDO:excludeGene +OMIM:620692 MONDO:excludeGene +OMIM:620693 MONDO:excludeGene +OMIM:620694 MONDO:excludeGene +OMIM:620695 MONDO:excludeGene +OMIM:620696 MONDO:excludeGene +OMIM:620697 MONDO:excludeGene +OMIM:620701 MONDO:excludeGene +OMIM:620702 MONDO:excludeGene +OMIM:620706 MONDO:excludeGene +OMIM:620708 MONDO:excludeGene OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease OMIM:100670 MONDO:excludeNonDisease @@ -18249,7 +18261,6 @@ OMIM:163910 MONDO:excludeNonDisease OMIM:163920 MONDO:excludeNonDisease OMIM:163980 MONDO:excludeNonDisease OMIM:164013 MONDO:excludeNonDisease -OMIM:164020 MONDO:excludeNonDisease OMIM:164031 MONDO:excludeNonDisease OMIM:164035 MONDO:excludeNonDisease OMIM:164060 MONDO:excludeNonDisease @@ -19191,7 +19202,6 @@ OMIM:300899 MONDO:excludeNonDisease OMIM:300901 MONDO:excludeNonDisease OMIM:300902 MONDO:excludeNonDisease OMIM:300903 MONDO:excludeNonDisease -OMIM:300907 MONDO:excludeNonDisease OMIM:300916 MONDO:excludeNonDisease OMIM:300917 MONDO:excludeNonDisease OMIM:300920 MONDO:excludeNonDisease @@ -21447,7 +21457,6 @@ OMIM:604085 MONDO:excludeNonDisease OMIM:604086 MONDO:excludeNonDisease OMIM:604087 MONDO:excludeNonDisease OMIM:604089 MONDO:excludeNonDisease -OMIM:604090 MONDO:excludeNonDisease OMIM:604092 MONDO:excludeNonDisease OMIM:604097 MONDO:excludeNonDisease OMIM:604098 MONDO:excludeNonDisease @@ -22231,7 +22240,6 @@ OMIM:605451 MONDO:excludeNonDisease OMIM:605453 MONDO:excludeNonDisease OMIM:605454 MONDO:excludeNonDisease OMIM:605455 MONDO:excludeNonDisease -OMIM:605456 MONDO:excludeNonDisease OMIM:605457 MONDO:excludeNonDisease OMIM:605458 MONDO:excludeNonDisease OMIM:605464 MONDO:excludeNonDisease @@ -24870,6 +24878,7 @@ OMIM:610182 MONDO:excludeNonDisease OMIM:610183 MONDO:excludeNonDisease OMIM:610184 MONDO:excludeNonDisease OMIM:610186 MONDO:excludeNonDisease +OMIM:610190 MONDO:excludeNonDisease OMIM:610191 MONDO:excludeNonDisease OMIM:610195 MONDO:excludeNonDisease OMIM:610196 MONDO:excludeNonDisease @@ -26911,7 +26920,6 @@ OMIM:614197 MONDO:excludeNonDisease OMIM:614206 MONDO:excludeNonDisease OMIM:614214 MONDO:excludeNonDisease OMIM:614216 MONDO:excludeNonDisease -OMIM:614217 MONDO:excludeNonDisease OMIM:614234 MONDO:excludeNonDisease OMIM:614236 MONDO:excludeNonDisease OMIM:614239 MONDO:excludeNonDisease @@ -29754,6 +29762,8 @@ OMIM:620637 MONDO:excludeNonDisease OMIM:620638 MONDO:excludeNonDisease OMIM:620640 MONDO:excludeNonDisease OMIM:620643 MONDO:excludeNonDisease +OMIM:620644 MONDO:excludeNonDisease +OMIM:620645 MONDO:excludeNonDisease OMIM:620648 MONDO:excludeNonDisease OMIM:620649 MONDO:excludeNonDisease OMIM:620650 MONDO:excludeNonDisease @@ -29775,6 +29785,16 @@ OMIM:620684 MONDO:excludeNonDisease OMIM:620685 MONDO:excludeNonDisease OMIM:620689 MONDO:excludeNonDisease OMIM:620691 MONDO:excludeNonDisease +OMIM:620692 MONDO:excludeNonDisease +OMIM:620693 MONDO:excludeNonDisease +OMIM:620694 MONDO:excludeNonDisease +OMIM:620695 MONDO:excludeNonDisease +OMIM:620696 MONDO:excludeNonDisease +OMIM:620697 MONDO:excludeNonDisease +OMIM:620701 MONDO:excludeNonDisease +OMIM:620702 MONDO:excludeNonDisease +OMIM:620706 MONDO:excludeNonDisease +OMIM:620708 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -30862,7 +30882,6 @@ OMIM:252320 MONDO:excludeTrait OMIM:253320 MONDO:excludeTrait OMIM:253590 MONDO:excludeTrait OMIM:254000 MONDO:excludeTrait -OMIM:254100 MONDO:excludeTrait OMIM:254120 MONDO:excludeTrait OMIM:254190 MONDO:excludeTrait OMIM:254200 MONDO:excludeTrait @@ -48768,6 +48787,8 @@ OMIM:620637 MONDO:nonDisease OMIM:620638 MONDO:nonDisease OMIM:620640 MONDO:nonDisease OMIM:620643 MONDO:nonDisease +OMIM:620644 MONDO:nonDisease +OMIM:620645 MONDO:nonDisease OMIM:620648 MONDO:nonDisease OMIM:620649 MONDO:nonDisease OMIM:620650 MONDO:nonDisease @@ -48789,3 +48810,13 @@ OMIM:620684 MONDO:nonDisease OMIM:620685 MONDO:nonDisease OMIM:620689 MONDO:nonDisease OMIM:620691 MONDO:nonDisease +OMIM:620692 MONDO:nonDisease +OMIM:620693 MONDO:nonDisease +OMIM:620694 MONDO:nonDisease +OMIM:620695 MONDO:nonDisease +OMIM:620696 MONDO:nonDisease +OMIM:620697 MONDO:nonDisease +OMIM:620701 MONDO:nonDisease +OMIM:620702 MONDO:nonDisease +OMIM:620706 MONDO:nonDisease +OMIM:620708 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 5db8bd09..15dc3327 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,37 +1,13 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:109400 basal cell nevus syndrome 1 False False False -OMIM:164210 craniofacial microsomia 1 False False False -OMIM:164300 oculopharyngeal muscular dystrophy 1 False False False -OMIM:259680 chronic recurrent multifocal osteomyelitis 3 False False False -OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 False False False -OMIM:301115 immunodeficiency 118 False False False -OMIM:605899 glycine encephalopathy 1 False False False -OMIM:608415 prolonged electroretinal response suppression 1 False False False -OMIM:609015 mitochondrial trifunctional protein deficiency 1 False False False -OMIM:613652 c1q deficiency 1 False False False -OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 False False False -OMIM:620150 epidermolytic hyperkeratosis 2 False False False -OMIM:620300 mitochondrial trifunctional protein deficiency 2 False False False -OMIM:620320 hematuria, benign familial, 2 False False False -OMIM:620321 c1q deficiency 2 False False False -OMIM:620322 c1q deficiency 3 False False False -OMIM:620343 basal cell nevus syndrome 2 False False False -OMIM:620344 prolonged electroretinal response suppression 2 False False False -OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis False False False -OMIM:620398 glycine encephalopathy 2 False False False -OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 False False False -OMIM:620444 craniofacial microsomia 2 False False False -OMIM:620460 oculopharyngeal muscular dystrophy 2 False False False -OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay False False False -OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 False False False +OMIM:254780 myoclonic epilepsy of lafora 1 False False False +OMIM:301116 intellectual developmental disorder, X-linked 113 False False False OMIM:620681 myoclonic epilepsy of lafora 2 False False False -OMIM:620683 lipodystrophy, familial partial, iia 9 False False False -OMIM:620686 premature ovarian failure 23 False False False -OMIM:620690 developmental dysplasia of the hip 3 False False False +OMIM:620687 moyamoya disease 7 False False False +OMIM:620688 intellectual developmental disorder, autosomal dominant 74 False False False +OMIM:620700 intellectual developmental disorder, autosomal recessive 81 False False False +OMIM:620703 yuksel-vogel-bauer syndrome False False False +OMIM:620705 spermatogenic failure 89 False False False OMIMPS:151623 Li-Fraumeni syndrome False False False -OMIMPS:254780 Myoclonic epilepsy of Lafora False False False -OMIMPS:305450 FG syndrome False False False -OMIMPS:601104 Supranuclear palsy, progressive False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -18879,6 +18855,8 @@ OMIM:620637 CPED1 False True False OMIM:620638 KCTD4 False True False OMIM:620640 RNF145 False True False OMIM:620643 MIR1323 False True False +OMIM:620644 MIR1283-1 False True False +OMIM:620645 MIR283-2 False True False OMIM:620648 BTNL9 False True False OMIM:620649 PLA2G4E False True False OMIM:620650 GLOD4 False True False @@ -18900,6 +18878,16 @@ OMIM:620684 HGH1 False True False OMIM:620685 C19ORF53 False True False OMIM:620689 LSM14B False True False OMIM:620691 BUD13 False True False +OMIM:620692 NANOGNB False True False +OMIM:620693 ASTE1 False True False +OMIM:620694 TTLL11 False True False +OMIM:620695 NOTO False True False +OMIM:620696 RITA1 False True False +OMIM:620697 ZCCHC14 False True False +OMIM:620701 TTC36 False True False +OMIM:620702 MCUB False True False +OMIM:620706 DBX2 False True False +OMIM:620708 LRRC23 False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False OMIM:100100 prune belly syndrome True False False @@ -19002,6 +18990,7 @@ OMIM:109150 machado-joseph disease True False False OMIM:109160 azotemia, familial True False False OMIM:109200 alopecia, androgenetic, 1 True False False OMIM:109350 gastroesophageal reflux True False False +OMIM:109400 basal cell nevus syndrome 1 True False False OMIM:109500 basilar impression, primary True False False OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 True False False OMIM:109650 Behcet syndrome True False False @@ -19623,9 +19612,11 @@ OMIM:164100 nystagmus 2, congenital, autosomal dominant True False False OMIM:164150 nystagmus, hereditary vertical True False False OMIM:164170 nystagmus, voluntary True False False OMIM:164200 oculodentodigital dysplasia True False False +OMIM:164210 craniofacial microsomia 1 True False False OMIM:164220 schilbach-rott syndrome True False False OMIM:164230 obsessive-compulsive disorder True False False OMIM:164280 feingold syndrome 1 True False False +OMIM:164300 oculopharyngeal muscular dystrophy 1 True False False OMIM:164310 oculopharyngodistal myopathy 1 True False False OMIM:164400 spinocerebellar ataxia 1 True False False OMIM:164500 spinocerebellar ataxia 7 True False False @@ -19687,7 +19678,7 @@ OMIM:169150 macular dystrophy, patterned, 1 True False False OMIM:169400 pelger-huet anomaly True False False OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant True False False OMIM:169545 pelvic lipomatosis with crossed renal ectopia True False False -OMIM:169600 benign chronic pemphigus True False False +OMIM:169600 hailey-hailey disease True False False OMIM:170100 prolidase deficiency True False False OMIM:170390 andersen cardiodysrhythmic periodic paralysis True False False OMIM:170400 hypokalemic periodic paralysis, iia 1 True False False @@ -20580,6 +20571,7 @@ OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 True False Fa OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 True False False OMIM:253800 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 4 True False False OMIM:254090 ullrich congenital muscular dystrophy 1 True False False +OMIM:254100 muscular dystrophy, congenital, with rapid progression True False False OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 True False False OMIM:254130 miyoshi muscular dystrophy 1 True False False OMIM:254150 musk, inability to smell True False False @@ -20589,7 +20581,6 @@ OMIM:254450 myelofibrosis True False False OMIM:254500 myeloma, multiple True False False OMIM:254600 myeloperoxidase deficiency True False False OMIM:254770 epilepsy, myoclonic juvenile True False False -OMIM:254780 myoclonic epilepsy of lafora 1 True False False OMIM:254800 myoclonic epilepsy of unverricht and lundborg True False False OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure True False False OMIM:254940 carey-fineman-ziter syndrome 1 True False False @@ -20669,6 +20660,7 @@ OMIM:259440 osteogenesis imperfecta, iia 9 True False False OMIM:259450 bruck syndrome 1 True False False OMIM:259500 osteogenic sarcoma True False False OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy True False False +OMIM:259680 chronic recurrent multifocal osteomyelitis 3 True False False OMIM:259700 osteopetrosis, autosomal recessive 1 True False False OMIM:259710 osteopetrosis, autosomal recessive 2 True False False OMIM:259720 osteopetrosis, autosomal recessive 5 True False False @@ -20972,7 +20964,7 @@ OMIM:300219 myotubular myopathy with abnormal genital development True False Fal OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal True False False OMIM:300228 testicular germ cell tumor 1 True False False OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy True False False -OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 True False False +OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi iia True False False OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia True False False OMIM:300244 terminal osseous dysplasia True False False OMIM:300245 ptosis, hereditary congenital 2 True False False @@ -21251,10 +21243,12 @@ OMIM:301099 spermatogenic failure, x-linked, 5 True False False OMIM:301101 spermatogenic failure, x-linked, 6 True False False OMIM:301106 spermatogenic failure, x-linked, 7 True False False OMIM:301107 intellectual developmental disorder, X-linked 111 True False False +OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 True False False OMIM:301109 autoinflammatory disease, multisystem, with immune dysregulation, X-linked True False False OMIM:301110 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature True False False OMIM:301111 intellectual developmental disorder, X-linked 112 True False False OMIM:301114 lui-jee-baron syndrome True False False +OMIM:301115 immunodeficiency 118 True False False OMIM:301200 amelogenesis imperfecta, iia 1e True False False OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 True False False OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked True False False @@ -21347,7 +21341,7 @@ OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia True False Fals OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 True False False OMIM:309548 intellectual developmental disorder, X-linked 109 True False False OMIM:309549 intellectual developmental disorder, X-linked 9 True False False -OMIM:309555 mental retardation with optic atrophy, deafness, and seizures True False False +OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson iia True False False OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis True False False OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 True False False OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia True False False @@ -22043,6 +22037,7 @@ OMIM:605844 dermatitis, atopic, 5 True False False OMIM:605845 dermatitis, atopic, 6 True False False OMIM:605850 dimethylglycine dehydrogenase deficiency True False False OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting True False False +OMIM:605899 glycine encephalopathy 1 True False False OMIM:605909 parkinson disease 6, autosomal recessive early-onset True False False OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency True False False OMIM:605913 bleeding disorder, east texas iia True False False @@ -22411,6 +22406,7 @@ OMIM:608392 autoimmune disease, susceptibility to, 3 True False False OMIM:608393 microcephaly 6, primary, autosomal recessive True False False OMIM:608394 deafness, autosomal dominant 43 True False False OMIM:608404 platelet glycoprotein 4 deficiency True False False +OMIM:608415 prolonged electroretinal response suppression 1 True False False OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 True False False OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 True False False OMIM:608443 intellectual developmental disorder, autosomal recessive 3 True False False @@ -22534,6 +22530,7 @@ OMIM:608988 atrial fibrillation, familial, 2 True False False OMIM:608995 dyslexia, susceptibility to, 8 True False False OMIM:608996 premature ovarian failure 3 True False False OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement True False False +OMIM:609015 mitochondrial trifunctional protein deficiency 1 True False False OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency True False False OMIM:609021 peripheral cone dystrophy True False False OMIM:609026 cataract 28 True False False @@ -23643,6 +23640,7 @@ OMIM:613642 cardiomyopathy, dilated, 1gg True False False OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to True False False OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect True False False OMIM:613647 spastic paraplegia 48, autosomal recessive True False False +OMIM:613652 c1q deficiency 1 True False False OMIM:613656 migraine with aura, susceptibility to, 13 True False False OMIM:613657 d-2-hydroxyglutaric aciduria 2 True False False OMIM:613658 rajab interstitial lung disease with brain calcifications 1 True False False @@ -23789,7 +23787,7 @@ OMIM:613916 deafness, autosomal recessive 89 True False False OMIM:613925 megalencephalic leukoencephalopathy with subcortical cysts 2a True False False OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development True False False OMIM:613930 alopecia-intellectual disability syndrome 3 True False False -OMIM:613933 acetyl-coa carboxylase deficiency True False False +OMIM:613933 acetyl-coa carboxylase-alpha deficiency True False False OMIM:613938 parasomnia, sleepwalking iia True False False OMIM:613943 ichthyosis, congenital, autosomal recessive 8 True False False OMIM:613944 iga nephropathy, susceptibility to, 2 True False False @@ -26342,6 +26340,7 @@ OMIM:619377 osteootohepatoenteric syndrome True False False OMIM:619379 spermatogenic failure 54 True False False OMIM:619380 spermatogenic failure 55 True False False OMIM:619381 immunodeficiency 82 with systemic inflammation True False False +OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 True False False OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities True False False OMIM:619386 combined oxidative phosphorylation deficiency 52 True False False OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 True False False @@ -26717,6 +26716,7 @@ OMIM:620141 developmental delay, language impairment, and ocular abnormalities T OMIM:620145 developmental and epileptic encephalopathy 109 True False False OMIM:620148 ichthyosis, annular epidermolytic, 2 True False False OMIM:620149 developmental and epileptic encephalopathy 110 True False False +OMIM:620150 epidermolytic hyperkeratosis 2 True False False OMIM:620151 wolman disease True False False OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy True False False OMIM:620153 mosaic variegated aneuploidy syndrome 4 True False False @@ -26792,6 +26792,7 @@ OMIM:620286 myopathy, sarcoplasmic body True False False OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures True False False OMIM:620294 congenital heart defects, multiple types, 9 True False False OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis True False False +OMIM:620300 mitochondrial trifunctional protein deficiency 2 True False False OMIM:620303 pituitary hormone deficiency, combined or isolated, 8 True False False OMIM:620305 neurooculorenal syndrome True False False OMIM:620306 neurodegeneration and seizures due to copper transport defect True False False @@ -26804,6 +26805,9 @@ OMIM:620315 leukoencephalopathy with vanishing white matter 5 True False False OMIM:620316 cortical dysplasia, complex, with other brain malformations 12 True False False OMIM:620317 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities True False False OMIM:620319 oocyte/zygote/embryo maturation arrest 17 True False False +OMIM:620320 hematuria, benign familial, 2 True False False +OMIM:620321 c1q deficiency 2 True False False +OMIM:620322 c1q deficiency 3 True False False OMIM:620323 spastic paraplegia 70, autosomal recessive True False False OMIM:620326 congenital myopathy 21 with early respiratory failure True False False OMIM:620327 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities True False False @@ -26812,6 +26816,8 @@ OMIM:620331 hatipoglu immunodeficiency syndrome True False False OMIM:620332 oocyte/zygote/embryo maturation arrest 18 True False False OMIM:620333 oocyte/zygote/embryo maturation arrest 19 True False False OMIM:620342 cone-rod dystrophy 24 True False False +OMIM:620343 basal cell nevus syndrome 2 True False False +OMIM:620344 prolonged electroretinal response suppression 2 True False False OMIM:620351 congenital myopathy 22a, classic True False False OMIM:620352 developmental and epileptic encephalopathy 31b True False False OMIM:620353 spermatogenic failure 82 True False False @@ -26829,6 +26835,7 @@ OMIM:620369 congenital myopathy 22b, severe fetal True False False OMIM:620370 recon progeroid syndrome True False False OMIM:620371 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity True False False OMIM:620372 hypersulfaturia True False False +OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis True False False OMIM:620375 muscular dystrophy, limb-girdle, autosomal recessive 28 True False False OMIM:620376 autoinflammatory disease, systemic, with vasculitis True False False OMIM:620378 charcot-marie-tooth disease, dominant intermediate a True False False @@ -26838,6 +26845,7 @@ OMIM:620384 auditory neuropathy, autosomal dominant 2 True False False OMIM:620386 nemaline myopathy 5b, autosomal recessive, childhood-onset True False False OMIM:620389 nemaline myopathy 5c, autosomal dominant True False False OMIM:620393 intellectual developmental disorder, autosomal recessive 79 True False False +OMIM:620398 glycine encephalopathy 2 True False False OMIM:620400 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 True False False OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 True False False OMIM:620409 spermatogenic failure 84 True False False @@ -26847,6 +26855,7 @@ OMIM:620416 spastic paraplegia 90a, autosomal dominant True False False OMIM:620417 spastic paraplegia 90b, autosomal recessive True False False OMIM:620422 retinitis pigmentosa 97 True False False OMIM:620423 multiple mitochondrial dysfunctions syndrome 7 True False False +OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 True False False OMIM:620427 dystonia 37, early-onset, with striatal lesions True False False OMIM:620428 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities True False False OMIM:620430 autoimmune disease, multisystem, infantile-onset, 3 True False False @@ -26854,6 +26863,7 @@ OMIM:620438 ciliary dyskinesia, primary, 51 True False False OMIM:620439 intellectual developmental disorder, autosomal dominant 72 True False False OMIM:620442 breast-ovarian cancer, familial, susceptibility to, 5 True False False OMIM:620443 disabling pansclerotic morphea of childhood True False False +OMIM:620444 craniofacial microsomia 2 True False False OMIM:620445 neurodevelopmental disorder with microcephaly and movement abnormalities True False False OMIM:620447 megalencephalic leukoencephalopathy with subcortical cysts 3 True False False OMIM:620448 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting True False False @@ -26868,8 +26878,10 @@ OMIM:620456 dystonia 22, adult-onset True False False OMIM:620457 auriculocondylar syndrome 4 True False False OMIM:620458 auriculocondylar syndrome 2b True False False OMIM:620459 birt-hogg-dube syndrome 2 True False False +OMIM:620460 oculopharyngeal muscular dystrophy 2 True False False OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 True False False OMIM:620462 cardiomyopathy, dilated, 2i True False False +OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay True False False OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay True False False OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy True False False OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay True False False @@ -26912,6 +26924,7 @@ OMIM:620551 deafness, autosomal recessive 121 True False False OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia True False False OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation True False False OMIM:620568 cornelia lange lange syndrome 6 True False False +OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 True False False OMIM:620570 ciliary dyskinesia, primary, 52 True False False OMIM:620576 otosclerosis 11 True False False OMIM:620583 optic atrophy 15 True False False @@ -26944,6 +26957,9 @@ OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant True False Fa OMIM:620675 leukodystrophy, hypomyelinating, 27 True False False OMIM:620679 lipodystrophy, familial partial, iia 8 True False False OMIM:620680 lipodystrophy, congenital generalized, iia 5 True False False +OMIM:620683 lipodystrophy, familial partial, iia 9 True False False +OMIM:620686 premature ovarian failure 23 True False False +OMIM:620690 developmental dysplasia of the hip 3 True False False OMIMPS:100070 Aortic aneurysm, familial abdominal True False False OMIMPS:100300 Adams-Oliver syndrome True False False OMIMPS:101800 Acrodysostosis True False False @@ -26954,6 +26970,7 @@ OMIMPS:104290 Alternating hemiplegia of childhood True False False OMIMPS:104500 Amelogenesis imperfecta True False False OMIMPS:105250 Amyloidosis, primary localized cutaneous True False False OMIMPS:105400 Amyotrophic lateral sclerosis True False False +OMIMPS:105500 True False False OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis True False False OMIMPS:105650 Diamond-Blackfan anemia True False False OMIMPS:105800 Aneurysm, intracranial berry True False False @@ -27065,6 +27082,7 @@ OMIMPS:154500 Treacher Collins syndrome True False False OMIMPS:155600 Melanoma, cutaneous malignant True False False OMIMPS:156200 Intellectual developmental disorder, autosomal dominant True False False OMIMPS:156610 Skin creases, congenital symmetric circumferential True False False +OMIMPS:156850 True False False OMIMPS:157300 Migraine with or without aura, susceptibility to True False False OMIMPS:157600 Mirror movements True False False OMIMPS:157640 Progressive external ophthalmoplegia with mtDNA deletions True False False @@ -27269,6 +27287,7 @@ OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive True False Fa OMIMPS:254090 Ullrich congenital muscular dystrophy True False False OMIMPS:254130 Miyoshi muscular dystrophy True False False OMIMPS:254770 Epilepsy, myoclonic juvenile True False False +OMIMPS:254780 Myoclonic epilepsy of Lafora True False False OMIMPS:254800 Epilepsy, progressive myoclonic True False False OMIMPS:254940 Carey-Fineman-Ziter syndrome True False False OMIMPS:256040 Proteosome-associated autoinflammatory syndrome True False False @@ -27319,6 +27338,7 @@ OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of True OMIMPS:277600 Weill-Marchesani syndrome True False False OMIMPS:278000 Lysosomal acid lipase deficiency True False False OMIMPS:278300 Xanthinuria True False False +OMIMPS:300000 True False False OMIMPS:300009 Dent disease True False False OMIMPS:300049 Periventricular nodular heterotopia True False False OMIMPS:300291 Ectodermal dysplasia and immune deficiency True False False @@ -27334,6 +27354,7 @@ OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolit OMIMPS:303350 Spastic paraplegia True False False OMIMPS:304500 Deafness, X-linked True False False OMIMPS:305100 Ectodermal dysplasia (select examples) True False False +OMIMPS:305450 FG syndrome True False False OMIMPS:305620 Frontometaphyseal dysplasia True False False OMIMPS:306400 Granulomatous disease, chronic True False False OMIMPS:306955 Heterotaxy, visceral True False False @@ -27367,6 +27388,7 @@ OMIMPS:600669 Epilepsy, idiopathic generalized True False False OMIMPS:600721 D-2-hydroxyglutaric aciduria True False False OMIMPS:600803 Gallbladder disease True False False OMIMPS:601068 Epilepsy, familial adult myoclonic True False False +OMIMPS:601104 Supranuclear palsy, progressive True False False OMIMPS:601144 Brugada syndrome True False False OMIMPS:601198 Hypocalcemia True False False OMIMPS:601228 Polyposis syndrome, hereditary mixed True False False @@ -27455,6 +27477,7 @@ OMIMPS:610460 Thiopurines, poor metabolism of True False False OMIMPS:610489 Pigmented nodular adrenocortical disease, primary True False False OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates True False False OMIMPS:610551 Encephalopathy/encephalitis, acute, infection-induced True False False +OMIMPS:610799 True False False OMIMPS:610805 Congenital anomalies of kidney and urinary tract True False False OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts True False False OMIMPS:612286 Nephrolithiasis/osteoporosis, hypophosphatemic True False False @@ -27493,6 +27516,7 @@ OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infant OMIMPS:616355 Houge-Janssens syndrome True False False OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation True False False OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like True False False +OMIMPS:616814 True False False OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures True False False OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair True False False OMIMPS:617068 Portal hypertension, noncirrhotic True False False @@ -27501,6 +27525,7 @@ OMIMPS:617236 Cone-rod dystrophy and hearing loss True False False OMIMPS:617290 Epilepsy, early-onset True False False OMIMPS:617468 Arthrogryposis multiplex congenita True False False OMIMPS:617660 Vertebral, cardiac, renal, and limb defects syndrome True False False +OMIMPS:617711 True False False OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies True False False OMIMPS:618005 Congenital disorder of glycosylation with defective fucosylation True False False OMIMPS:618332 Menke-Hennekam syndrome True False False @@ -28553,7 +28578,6 @@ OMIM:252320 motor neuropathy, peripheral, with dysautonomia True True False OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism True True False OMIM:253590 muscular dystrophy, adult-onset, with leukoencephalopathy True True False OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism True True False -OMIM:254100 muscular dystrophy, congenital, with rapid progression True True False OMIM:254120 muscular hypertonia, lethal True True False OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors True True False OMIM:254200 myasthenia gravis True True False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 8358c0bc..ebb2a94b 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -3467,7 +3467,6 @@ OMIM:252800 OMIM:253320 OMIM:253590 OMIM:254000 -OMIM:254100 OMIM:254120 OMIM:254190 OMIM:254200 @@ -19151,6 +19150,8 @@ OMIM:620637 OMIM:620638 OMIM:620640 OMIM:620643 +OMIM:620644 +OMIM:620645 OMIM:620648 OMIM:620649 OMIM:620650 @@ -19172,3 +19173,13 @@ OMIM:620684 OMIM:620685 OMIM:620689 OMIM:620691 +OMIM:620692 +OMIM:620693 +OMIM:620694 +OMIM:620695 +OMIM:620696 +OMIM:620697 +OMIM:620701 +OMIM:620702 +OMIM:620706 +OMIM:620708 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 115cbb17..32ee7428 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,34 +1,10 @@ subject_id subject_label -OMIMPS:305450 FG syndrome OMIMPS:151623 Li-Fraumeni syndrome -OMIMPS:254780 Myoclonic epilepsy of Lafora -OMIMPS:601104 Supranuclear palsy, progressive -OMIM:109400 basal cell nevus syndrome 1 -OMIM:620343 basal cell nevus syndrome 2 -OMIM:613652 c1q deficiency 1 -OMIM:620321 c1q deficiency 2 -OMIM:620322 c1q deficiency 3 -OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 -OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 -OMIM:259680 chronic recurrent multifocal osteomyelitis 3 -OMIM:164210 craniofacial microsomia 1 -OMIM:620444 craniofacial microsomia 2 -OMIM:620690 developmental dysplasia of the hip 3 -OMIM:620150 epidermolytic hyperkeratosis 2 -OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay -OMIM:605899 glycine encephalopathy 1 -OMIM:620398 glycine encephalopathy 2 -OMIM:620320 hematuria, benign familial, 2 -OMIM:301115 immunodeficiency 118 -OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 -OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 -OMIM:620683 lipodystrophy, familial partial, iia 9 -OMIM:609015 mitochondrial trifunctional protein deficiency 1 -OMIM:620300 mitochondrial trifunctional protein deficiency 2 +OMIM:301116 intellectual developmental disorder, X-linked 113 +OMIM:620688 intellectual developmental disorder, autosomal dominant 74 +OMIM:620700 intellectual developmental disorder, autosomal recessive 81 +OMIM:620687 moyamoya disease 7 +OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:620681 myoclonic epilepsy of lafora 2 -OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis -OMIM:164300 oculopharyngeal muscular dystrophy 1 -OMIM:620460 oculopharyngeal muscular dystrophy 2 -OMIM:620686 premature ovarian failure 23 -OMIM:608415 prolonged electroretinal response suppression 1 -OMIM:620344 prolonged electroretinal response suppression 2 +OMIM:620705 spermatogenic failure 89 +OMIM:620703 yuksel-vogel-bauer syndrome diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 451931ba..e3125295 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -1,18813 +1,18848 @@ -subject_id object_id in_any_source subject_label object_label in_doid in_icd10who in_omim in_ordo in_ncit in_gard in_icd10cm -MONDO:0000004 MONDO:0002816 True adrenocortical insufficiency adrenal cortex disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000062 MONDO:0021129 True isolated microphthalmia microphthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000110 MONDO:0015411 True bifid nose facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000127 MONDO:0019695 True geleophysic dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000133 MONDO:0006025 True immunodeficiency-centromeric instability-facial anomalies syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000136 MONDO:0018855 True keratosis follicularis spinulosa decalvans keratosis pilaris atrophicans SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000141 MONDO:0015356 True mosaic variegated aneuploidy syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000141 MONDO:0019040 True mosaic variegated aneuploidy syndrome chromosomal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000147 MONDO:0021075 True polyposis neoplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000153 MONDO:0019512 True transposition of the great arteries congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000170 MONDO:0016764 True microphthalmia, isolated, with coloboma isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000171 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000172 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0015148 True Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0015159 True Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000193 MONDO:0015898 True cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000208 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000209 MONDO:0015168 True prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000209 MONDO:0024257 True prenatal-onset spinal muscular atrophy with congenital bone fractures hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000214 MONDO:0019052 True hypermanganesemia with dystonia inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000222 MONDO:0001027 True seminal vesicle acute gonorrhea gonococcal seminal vesiculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000225 MONDO:0016003 True human monocytic ehrlichiosis ehrlichiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000226 MONDO:0005066 True mineral metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000227 MONDO:0001195 True African tick-bite fever spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000232 MONDO:0001195 True Flinders island spotted fever spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000233 MONDO:0001195 True Japanese spotted fever spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000234 MONDO:0001195 True Rickettsia parkeri spotted fever spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000236 MONDO:0001701 True oropharyngeal anthrax gastrointestinal anthrax SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000239 MONDO:0000308 True adiaspiromycosis primary systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000241 MONDO:0006873 True Keshan disease nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000242 MONDO:0004678 True tinea barbae dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000243 MONDO:0004678 True ectothrix infectious disease dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000244 MONDO:0004678 True endothrix infectious disease dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000245 MONDO:0001461 True tinea imbricata tinea corporis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000249 MONDO:0001673 True secretory diarrhea diarrheal disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000252 MONDO:0001673 True inflammatory diarrhea diarrheal disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000254 MONDO:0002041 True cutaneous mycosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000256 MONDO:0002041 True systemic mycosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000257 MONDO:0001673 True acute diarrhea diarrheal disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000259 MONDO:0005502 True asymptomatic dengue dengue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000262 MONDO:0004795 True otomycosis otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000265 MONDO:0005275 True aspiration pneumonia lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000266 MONDO:0005657 True pulmonary aspergilloma aspergillosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000270 MONDO:0005087 True lower respiratory tract disorder respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000271 MONDO:0006002 True tuberculous salpingitis urogenital tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000273 MONDO:0019376 True Kunjin virus infectous disease West-Nile encephalitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000282 MONDO:0005108 True Whitewater Arroyo hemorrhagic fever viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000283 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type hantavirus hemorrhagic fever with renal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000284 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type hantavirus hemorrhagic fever with renal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000286 MONDO:0006011 True Epstein-Barr virus hepatitis viral hepatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000288 MONDO:0005154 True polycystic echinococcosis liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000288 MONDO:0005738 True polycystic echinococcosis echinococcosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000290 MONDO:0002428 True primary amebic meningoencephalitis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000291 MONDO:0002428 True granulomatous amebic encephalitis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000295 MONDO:0004664 True acanthocephaliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000303 MONDO:0000255 True conidiobolomycosis subcutaneous mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000307 MONDO:0005135 True parasitic Ichthyosporea infectious disease parasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000308 MONDO:0000256 True primary systemic mycosis systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000309 MONDO:0004892 True aniseikonia refractive error SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000310 MONDO:0017881 True Alkhurma hemorrhagic fever Kyasanur forest disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000313 MONDO:0002319 True hypophosphatemia phosphorus metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000314 MONDO:0005113 True primary bacterial infectious disease bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000315 MONDO:0005113 True commensal bacterial infectious disease bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000316 MONDO:0005113 True opportunistic bacterial infectious disease bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000320 MONDO:0018077 True glandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000321 MONDO:0018077 True typhoidal tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000327 MONDO:0000314 True Buruli ulcer disease primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000328 MONDO:0002319 True hyperphosphatemia phosphorus metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000330 MONDO:0001246 True endemic typhus typhus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000331 MONDO:0001195 True Rickettsia helvetica spotted fever spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000332 MONDO:0000314 True sennetsu fever primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000333 MONDO:0005714 True early congenital syphilis congenital syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000335 MONDO:0004944 True parenchymatous neurosyphilis neurosyphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000336 MONDO:0004944 True meningovascular neurosyphilis neurosyphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000337 MONDO:0005108 True exanthema subitum viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000338 MONDO:0004651 True variola major infectious disease smallpox SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000339 MONDO:0000341 True spinal polio paralytic poliomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000340 MONDO:0000341 True bulbospinal polio paralytic poliomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000341 MONDO:0017373 True paralytic poliomyelitis poliomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000346 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type hantavirus hemorrhagic fever with renal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000351 MONDO:0004736 True disorder of methionine catabolism inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000355 MONDO:0019950 True Ullrich congenital muscular dystrophy congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000359 MONDO:0000812 True spondylocostal dysostosis vertebral column disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000359 MONDO:0018234 True spondylocostal dysostosis dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000363 MONDO:0004497 True gummatous syphilis tertiary syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000368 MONDO:0018076 True extrapulmonary tuberculosis tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000369 MONDO:0000368 True abdominal tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000371 MONDO:0004647 True oral cavity carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000371 MONDO:0044925 True oral cavity carcinoma in situ oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000372 MONDO:0004647 True pharynx carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000372 MONDO:0021345 True pharynx carcinoma in situ carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000373 MONDO:0004647 True gall bladder carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000376 MONDO:0004992 True respiratory system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000376 MONDO:0005087 True respiratory system cancer respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000377 MONDO:0006266 True malignant Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000378 MONDO:0002696 True malignant Sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000380 MONDO:0020669 True paranasal sinus carcinoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000380 MONDO:0056819 True paranasal sinus carcinoma nasal cavity and paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000381 MONDO:0005221 True infiltrating renal pelvis transitional cell carcinoma renal pelvis urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000382 MONDO:0005087 True respiratory system benign neoplasm respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000382 MONDO:0005165 True respiratory system benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000383 MONDO:0005165 True benign reproductive system neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000383 MONDO:0006054 True benign reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000384 MONDO:0004180 True bladder benign neoplasm benign urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000384 MONDO:0004987 True bladder benign neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000385 MONDO:0004335 True benign digestive system neoplasm digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000385 MONDO:0005165 True benign digestive system neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000385 MONDO:0021223 True benign digestive system neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000386 MONDO:0024503 True digestive system neuroendocrine tumor, grade 1/2 digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000387 MONDO:0001245 True hypochromic microcytic anemia microcytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000389 MONDO:0005516 True atelosteogenesis osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000390 MONDO:0003004 True vitelliform macular dystrophy macular degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000393 MONDO:0000408 True partial fetal alcohol syndrome fetal alcohol spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000395 MONDO:0000408 True alcohol-related birth defect fetal alcohol spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000396 MONDO:0006497 True spastic cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000397 MONDO:0006497 True ataxic cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000400 MONDO:0006497 True mixed cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000402 MONDO:0002120 True small cell carcinoma neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000405 MONDO:0005814 True anal canal cancer intestinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000407 MONDO:0006294 True malignant pleural solitary fibrous tumor pleural cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000408 MONDO:0000592 True fetal alcohol spectrum disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000411 MONDO:0005027 True electroclinical syndrome epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000412 MONDO:0000411 True neonatal period electroclinical syndrome electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000413 MONDO:0000411 True infancy electroclinical syndrome electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000414 MONDO:0000411 True childhood electroclinical syndrome electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000415 MONDO:0000411 True adolescence-adult electroclinical syndrome electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000417 MONDO:0000414 True early onset absence epilepsy childhood electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000417 MONDO:0850093 True early onset absence epilepsy absence epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000424 MONDO:0005528 True inborn vitamin B12 deficiency inborn vitamin metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000426 MONDO:0000429 True autosomal dominant disease autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000428 MONDO:0003847 True Y-linked disease hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000429 MONDO:0003847 True autosomal genetic disease hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000430 MONDO:0005169 True mature T-cell and NK-cell non-Hodgkin lymphoma neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000430 MONDO:0015760 True mature T-cell and NK-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000432 MONDO:0004095 True lymphoplasmacytic lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000437 MONDO:0002427 True cerebellar ataxia cerebellar disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000446 MONDO:0005516 True midface dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000447 MONDO:0000426 True autosomal dominant polycystic liver disease autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000447 MONDO:0005154 True autosomal dominant polycystic liver disease liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000448 MONDO:0002366 True paraganglioma autonomic nervous system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000448 MONDO:0003847 True paraganglioma hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000448 MONDO:0019496 True paraganglioma neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000453 MONDO:0000992 True short QT syndrome heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0004736 True cerebral creatine deficiency syndrome inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0019243 True cerebral creatine deficiency syndrome inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000457 MONDO:0018177 True classical glioblastoma glioblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000458 MONDO:0018177 True proneural glioblastoma glioblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000459 MONDO:0018177 True mesenchymal glioblastoma glioblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000460 MONDO:0018177 True neural glioblastoma glioblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000463 MONDO:0006025 True Ochoa syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000465 MONDO:0000992 True atrioventricular block heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000466 MONDO:0000465 True first-degree atrioventricular block atrioventricular block SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000467 MONDO:0000465 True second-degree atrioventricular block atrioventricular block SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000468 MONDO:0000465 True third-degree atrioventricular block atrioventricular block SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000469 MONDO:0000992 True sinoatrial node disorder heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000470 MONDO:0005267 True endocardium disorder heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000471 MONDO:0002869 True tricuspid valve disorder heart valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000473 MONDO:0005385 True arterial disorder vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000476 MONDO:0015494 True generalized dystonia isolated dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000477 MONDO:0003441 True focal dystonia dystonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000478 MONDO:0003441 True multifocal dystonia dystonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000479 MONDO:0003441 True segmental dystonia dystonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000480 MONDO:0000477 True anismus focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000481 MONDO:0000477 True cervical dystonia focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000482 MONDO:0000477 True focal hand dystonia focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000483 MONDO:0000477 True oculogyric crisis focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000485 MONDO:0000477 True spasmodic dystonia focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000486 MONDO:0000477 True craniofacial dystonia focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000487 MONDO:0000478 True hemidystonia multifocal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000489 MONDO:0005560 True diabetic encephalopathy brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000491 MONDO:0005053 True limb ischemia ischemic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000492 MONDO:0000945 True chronic venous insufficiency venous insufficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000495 MONDO:0000592 True oppositional defiant disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000496 MONDO:0006032 True hemorrhagic cystitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000497 MONDO:0002654 True pyometritis uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000498 MONDO:0006649 True arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000499 MONDO:0006649 True non-arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000500 MONDO:0004631 True tongue squamous cell carcinoma tongue cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000500 MONDO:0004958 True tongue squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000502 MONDO:0004972 True villous adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000503 MONDO:0003218 True lung adenocarcinoma in situ adenocarcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000503 MONDO:0004660 True lung adenocarcinoma in situ lung carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000503 MONDO:0005061 True lung adenocarcinoma in situ lung adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000507 MONDO:0002254 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000507 MONDO:0016112 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000508 MONDO:0001071 True syndromic intellectual disability intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000509 MONDO:0001071 True non-syndromic intellectual disability intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000513 MONDO:0000631 True bone ameloblastoma bone benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000514 MONDO:0002415 True bone squamous cell carcinoma bone carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000514 MONDO:0005096 True bone squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000515 MONDO:0002129 True bone chondrosarcoma bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000515 MONDO:0008977 True bone chondrosarcoma chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000516 MONDO:0000631 True phalanx chondroma bone benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000516 MONDO:0002360 True phalanx chondroma chondroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000517 MONDO:0007959 True brain stem medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000518 MONDO:0000812 True sacrum chordoma vertebral column disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000518 MONDO:0002894 True sacrum chordoma spinal chordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000519 MONDO:0002544 True corpus callosum oligodendroglioma brain oligodendroglioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000520 MONDO:0001952 True parietal lobe ependymal tumor parietal lobe cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000521 MONDO:0004669 True salivary gland carcinoma salivary gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000524 MONDO:0015864 True mixed extragonadal germ cell cancer mixed germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000525 MONDO:0005694 True cecum villous adenoma cecal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000525 MONDO:0021271 True cecum villous adenoma villous adenoma of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000527 MONDO:0005484 True colon adenoma colorectal adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000530 MONDO:0005484 True rectum adenoma colorectal adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000532 MONDO:0003438 True lung combined type small cell adenocarcinoma combined small cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000534 MONDO:0003036 True trachea mucoepidermoid carcinoma mucoepidermoid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000536 MONDO:0005517 True pharyngeal squamous cell carcinoma pharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000536 MONDO:0010150 True pharyngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000536 MONDO:0021345 True pharyngeal squamous cell carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000539 MONDO:0003939 True striated muscle rhabdoid tumor muscle tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000539 MONDO:0005864 True striated muscle rhabdoid tumor muscle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000540 MONDO:0002995 True small intestinal neuroendocrine tumor G1 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000540 MONDO:0021533 True small intestinal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000541 MONDO:0003198 True jejunal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000541 MONDO:0006815 True jejunal adenocarcinoma jejunal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000543 MONDO:0021068 True ovarian melanoma ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000544 MONDO:0006320 True mucosal melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000548 MONDO:0018364 True ovarian clear cell cancer malignant epithelial tumor of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000548 MONDO:0021144 True ovarian clear cell cancer ovarian clear cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000549 MONDO:0002749 True cervical neuroblastoma extracranial neuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000550 MONDO:0021072 True extra-adrenal sympathetic paraganglioma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000552 MONDO:0004988 True breast lobular carcinoma breast adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000553 MONDO:0006003 True uterine corpus endometrial carcinoma uterine corpus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000554 MONDO:0004259 True endocervical adenocarcinoma endocervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000554 MONDO:0005153 True endocervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000563 MONDO:0020380 True GRID2-related autosomal dominant spinocerebellar ataxia autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000565 MONDO:0005025 True infective endocarditis endocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000565 MONDO:0005550 True infective endocarditis infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000568 MONDO:0002602 True autoimmune disorder of central nervous system central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000568 MONDO:0002977 True autoimmune disorder of central nervous system autoimmune disorder of the nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000569 MONDO:0005151 True autoimmune disorder of endocrine system endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000569 MONDO:0007179 True autoimmune disorder of endocrine system autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000572 MONDO:0015974 True recombinase activating gene 1 deficiency severe combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000573 MONDO:0015974 True recombinase activating gene 2 deficiency severe combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000583 MONDO:0002211 True immunoglobulin beta deficiency B cell deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000584 MONDO:0015977 True B cell linker protein deficiency agammaglobulinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000586 MONDO:0007179 True autoimmune disorder of exocrine system autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000587 MONDO:0007179 True autoimmune disease of ear, nose and throat autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000588 MONDO:0004335 True autoimmune disorder of gastrointestinal tract digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000588 MONDO:0007179 True autoimmune disorder of gastrointestinal tract autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000589 MONDO:0002081 True autoimmune disorder of musculoskeletal system musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000589 MONDO:0007179 True autoimmune disorder of musculoskeletal system autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000590 MONDO:0002977 True autoimmune disorder of peripheral nervous system autoimmune disorder of the nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000590 MONDO:0003620 True autoimmune disorder of peripheral nervous system peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000591 MONDO:0004994 True intrinsic cardiomyopathy cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000592 MONDO:0005503 True specific developmental disorder developmental disorder of mental health SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000594 MONDO:0005503 True pervasive developmental disorder developmental disorder of mental health SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000595 MONDO:0002025 True sexual and gender identity disorders psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000597 MONDO:0002103 True Munchausen by proxy factitious disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000598 MONDO:0004750 True aphasia language disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000599 MONDO:0004681 True writing disorder learning disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000600 MONDO:0012000 True nosophobia specific phobia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000602 MONDO:0007179 True autoimmune disorder of blood autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000603 MONDO:0004995 True autoimmune disorder of cardiovascular system cardiovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000603 MONDO:0007179 True autoimmune disorder of cardiovascular system autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000605 MONDO:0005046 True hypersensitivity reaction disease immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000607 MONDO:0018898 True primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000610 MONDO:0005025 True marantic endocarditis endocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000611 MONDO:0005070 True pre-malignant neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000612 MONDO:0000621 True lymphatic system cancer immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000612 MONDO:0005833 True lymphatic system cancer lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000620 MONDO:0000634 True breast benign neoplasm thoracic benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000620 MONDO:0021100 True breast benign neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000621 MONDO:0004992 True immune system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000621 MONDO:0005046 True immune system cancer immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000624 MONDO:0000383 True benign female reproductive system neoplasm benign reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000624 MONDO:0021148 True benign female reproductive system neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000625 MONDO:0000383 True benign male reproductive system neoplasm benign reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000625 MONDO:0003150 True benign male reproductive system neoplasm male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000627 MONDO:0002082 True benign endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000627 MONDO:0005165 True benign endocrine neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000628 MONDO:0000648 True central nervous system organ benign neoplasm nervous system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000629 MONDO:0005165 True cardiovascular organ benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000630 MONDO:0005165 True immune system organ benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000631 MONDO:0000654 True bone benign neoplasm benign connective and soft tissue neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000631 MONDO:0019060 True bone benign neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000632 MONDO:0000624 True uterine benign neoplasm benign female reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000632 MONDO:0021353 True uterine benign neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000633 MONDO:0000648 True sensory organ benign neoplasm nervous system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000634 MONDO:0005165 True thoracic benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000634 MONDO:0021350 True thoracic benign neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000636 MONDO:0002081 True musculoskeletal system benign neoplasm musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000636 MONDO:0005165 True musculoskeletal system benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000637 MONDO:0002081 True musculoskeletal system cancer musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000637 MONDO:0004992 True musculoskeletal system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000640 MONDO:0002714 True central nervous system primitive neuroectodermal neoplasm central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000642 MONDO:0016642 True brain meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000643 MONDO:0000624 True vulvar benign neoplasm benign female reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000643 MONDO:0021049 True vulvar benign neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000644 MONDO:0000632 True cervical benign neoplasm uterine benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000644 MONDO:0021230 True cervical benign neoplasm uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000645 MONDO:0000624 True fallopian tube benign neoplasm benign female reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000645 MONDO:0021092 True fallopian tube benign neoplasm fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000646 MONDO:0000624 True ovarian benign neoplasm benign female reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000646 MONDO:0021068 True ovarian benign neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000647 MONDO:0000624 True benign vaginal neoplasm benign female reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000647 MONDO:0021050 True benign vaginal neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000648 MONDO:0005165 True nervous system benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000648 MONDO:0021248 True nervous system benign neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000649 MONDO:0005872 True sensory system cancer nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000650 MONDO:0005165 True peritoneal benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000650 MONDO:0006901 True peritoneal benign neoplasm peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000652 MONDO:0002051 True integumentary system benign neoplasm integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000652 MONDO:0005165 True integumentary system benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000653 MONDO:0002051 True integumentary system cancer integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000653 MONDO:0004992 True integumentary system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000654 MONDO:0000636 True benign connective and soft tissue neoplasm musculoskeletal system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000654 MONDO:0003900 True benign connective and soft tissue neoplasm connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000654 MONDO:0044334 True benign connective and soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000659 MONDO:0019464 True delta-heavy chain disease heavy chain disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000660 MONDO:0005638 True akinetopsia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000661 MONDO:0005638 True alexithymia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000662 MONDO:0005638 True amusia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000663 MONDO:0005638 True anosognosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000667 MONDO:0005638 True auditory agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000668 MONDO:0005638 True autotopagnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000671 MONDO:0005638 True finger agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000673 MONDO:0005638 True integrative agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000674 MONDO:0005638 True mirror agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000675 MONDO:0005638 True pain agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000676 MONDO:0005638 True phonagnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000677 MONDO:0005638 True semantic agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000678 MONDO:0005638 True simultanagnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000679 MONDO:0005638 True social emotional agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000680 MONDO:0005638 True astereognosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000681 MONDO:0005638 True tactile agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000682 MONDO:0005638 True time agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000683 MONDO:0000685 True topographical agnosia visual agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000685 MONDO:0005638 True visual agnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000686 MONDO:0000685 True alexia without agraphia visual agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000687 MONDO:0005340 True diffuse alopecia areata alopecia areata SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000688 MONDO:0004736 True inborn organic aciduria inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000690 MONDO:0003117 True body dysmorphic disorder somatoform disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000693 MONDO:0004985 True bipolar II disorder bipolar disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000694 MONDO:0002050 True seasonal affective disorder depressive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000698 MONDO:0004736 True gamma-amino butyric acid metabolism disorder inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000701 MONDO:0005292 True ischemic colitis colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000702 MONDO:0005292 True microscopic colitis colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000703 MONDO:0000702 True collagenous colitis microscopic colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000704 MONDO:0000702 True lymphocytic colitis microscopic colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000706 MONDO:0005292 True chemical colitis colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000707 MONDO:0005292 True diversion colitis colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000715 MONDO:0001082 True lymph node adenoid cystic carcinoma lymph node cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000716 MONDO:0000599 True agraphia writing disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000723 MONDO:0004730 True stutter disorder speech disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000724 MONDO:0004750 True specific language impairment language disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000726 MONDO:0005392 True idiopathic scoliosis scoliosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000728 MONDO:0005328 True ptosis eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000733 MONDO:0000942 True cornea plana corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000736 MONDO:0019289 True dyschromatosis universalis hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000739 MONDO:0004867 True uvulitis upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000740 MONDO:0004867 True adenoid hypertrophy upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000741 MONDO:0002102 True angular cheilitis cheilitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000743 MONDO:0006858 True oral hairy leukoplakia mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000744 MONDO:0005275 True lung abscess lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000748 MONDO:0002614 True mastoiditis bone inflammation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000749 MONDO:0002657 True breast abscess breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000750 MONDO:0006999 True dental abscess tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000751 MONDO:0002256 True cervical polyp cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000754 MONDO:0001593 True anal fistula rectal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000755 MONDO:0002263 True ectopic pregnancy female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000756 MONDO:0009993 True parameningeal embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000758 MONDO:0005664 True bacillary angiomatosis bartonellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000761 MONDO:0019040 True syndrome caused by partial chromosomal deletion chromosomal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000762 MONDO:0019040 True syndrome caused by partial chromosomal duplication chromosomal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000763 MONDO:0018102 True epithelial and subepithelial corneal dystrophy corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000764 MONDO:0018102 True epithelial-stromal TGFBI dystrophy corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000766 MONDO:0018102 True corneal endothelial dystrophy corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000771 MONDO:0005271 True allergic respiratory disease allergic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000774 MONDO:0000590 True autoimmune neuropathy autoimmune disorder of peripheral nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000775 MONDO:0005271 True drug allergy allergic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000777 MONDO:0005271 True gastrointestinal allergy allergic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000807 MONDO:0005271 True latex allergy allergic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000809 MONDO:0002610 True purpura fulminans purpura SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000811 MONDO:0001389 True anomalous left coronary artery from the pulmonary artery congenital coronary artery anomaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000813 MONDO:0005267 True cardiac tuberculosis heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000814 MONDO:0003541 True B-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000814 MONDO:0020511 True B-cell adult acute lymphocytic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000815 MONDO:0000592 True fetal nicotine spectrum disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000816 MONDO:0002254 True abdominal obesity-metabolic syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000819 MONDO:0002320 True anencephaly congenital nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000824 MONDO:0001673 True congenital diarrhea diarrheal disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000827 MONDO:0000314 True salmonellosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000828 MONDO:0017279 True juvenile-onset Parkinson disease young-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000831 MONDO:0005385 True thrombotic disease vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000833 MONDO:0005381 True bone remodeling disease bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000836 MONDO:0005381 True disease of bone structure bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000837 MONDO:0000833 True bone resorption disease bone remodeling disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000845 MONDO:0000833 True fibrous dysplasia bone remodeling disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000849 MONDO:0002254 True fibrogenesis imperfecta ossium syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000858 MONDO:0003409 True neuronal intestinal dysplasia colonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000863 MONDO:0009637 True myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000863 MONDO:0016387 True myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000863 MONDO:0020099 True myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000866 MONDO:0005336 True hereditary myoglobinuria myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000870 MONDO:0004355 True childhood acute lymphoblastic leukemia childhood leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000871 MONDO:0000870 True T-cell childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000871 MONDO:0004403 True T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000871 MONDO:0004963 True T-cell childhood acute lymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000872 MONDO:0000621 True B-cell childhood acute lymphoblastic leukemia immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000872 MONDO:0000870 True B-cell childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000872 MONDO:0020511 True B-cell childhood acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000873 MONDO:0003538 True lymphoblastic lymphoma precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000873 MONDO:0018908 True lymphoblastic lymphoma non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000874 MONDO:0000873 True T-cell childhood lymphoblastic lymphoma lymphoblastic lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000874 MONDO:0003659 True T-cell childhood lymphoblastic lymphoma pediatric lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000874 MONDO:0004403 True T-cell childhood lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000875 MONDO:0007896 True adult acute monocytic leukemia acute monocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000878 MONDO:0002708 True cytomegalovirus retinitis retinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000879 MONDO:0002026 True cutaneous candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000884 MONDO:0015688 True myeloid and lymphoid neoplasms associated with FGFR1 abnormalities myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000888 MONDO:0004335 True gastrointestinal mucositis digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000889 MONDO:0006670 True haemophilus meningitis bacterial meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000891 MONDO:0006210 True mixed fibrolamellar hepatocellular carcinoma fibrolamellar hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000892 MONDO:0002271 True colon medullary carcinoma colon adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000892 MONDO:0020794 True colon medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000893 MONDO:0004991 True mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000894 MONDO:0004991 True mucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000895 MONDO:0004991 True nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000901 MONDO:0018905 True relapsed/refractory diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000903 MONDO:0020065 True myoclonus-dystonia syndrome combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000904 MONDO:0003847 True complex cortical dysplasia with other brain malformations hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000904 MONDO:0005560 True complex cortical dysplasia with other brain malformations brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000908 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 13 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000910 MONDO:0019200 True retinitis pigmentosa 6 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 5 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000913 MONDO:0019350 True hereditary spherocytosis type 2 hereditary spherocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000914 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000918 MONDO:0000931 True endometritis endometrial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000919 MONDO:0000920 True ampulla of vater cancer duodenum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000919 MONDO:0000921 True ampulla of vater cancer ampulla of vater neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000920 MONDO:0000956 True duodenum cancer small intestine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000920 MONDO:0021375 True duodenum cancer tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000922 MONDO:0002263 True pelvic inflammatory disease female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000923 MONDO:0004849 True interstitial emphysema pulmonary emphysema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000924 MONDO:0004849 True compensatory emphysema pulmonary emphysema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000926 MONDO:0005328 True eye accommodation disease eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000927 MONDO:0004944 True asymptomatic neurosyphilis neurosyphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000928 MONDO:0005012 True eyelid melanoma cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000928 MONDO:0006325 True eyelid melanoma ocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000928 MONDO:0021313 True eyelid melanoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000929 MONDO:0005012 True balloon cell malignant melanoma cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000930 MONDO:0005012 True nodular malignant melanoma cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000931 MONDO:0002654 True endometrial disorder uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000933 MONDO:0021071 True subglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000934 MONDO:0001572 True laryngeal leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000934 MONDO:0002354 True laryngeal leiomyoma benign laryngeal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000935 MONDO:0001825 True larynx squamous papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000935 MONDO:0002354 True larynx squamous papilloma benign laryngeal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000938 MONDO:0001572 True gastric leiomyoma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000938 MONDO:0021449 True gastric leiomyoma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +subject_id object_id in_any_source subject_label object_label in_icd10cm in_ordo in_ncit in_icd10who in_gard in_omim in_doid +MONDO:0000004 MONDO:0002816 True adrenocortical insufficiency adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000062 MONDO:0021129 True isolated microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000110 MONDO:0015411 True bifid nose facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000127 MONDO:0019695 True geleophysic dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000133 MONDO:0006025 True immunodeficiency-centromeric instability-facial anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000136 MONDO:0018855 True keratosis follicularis spinulosa decalvans keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000141 MONDO:0015356 True mosaic variegated aneuploidy syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000141 MONDO:0019040 True mosaic variegated aneuploidy syndrome chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000147 MONDO:0021075 True polyposis neoplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000153 MONDO:0019512 True transposition of the great arteries congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000170 MONDO:0016764 True microphthalmia, isolated, with coloboma isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000171 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000172 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000179 MONDO:0015148 True Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0015159 True Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000193 MONDO:0015898 True cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000208 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0000209 MONDO:0015168 True prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000209 MONDO:0024257 True prenatal-onset spinal muscular atrophy with congenital bone fractures hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000214 MONDO:0019052 True hypermanganesemia with dystonia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000222 MONDO:0001027 True seminal vesicle acute gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000225 MONDO:0016003 True human monocytic ehrlichiosis ehrlichiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000226 MONDO:0005066 True mineral metabolism disease metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000227 MONDO:0001195 True African tick-bite fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000232 MONDO:0001195 True Flinders island spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000233 MONDO:0001195 True Japanese spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000234 MONDO:0001195 True Rickettsia parkeri spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000236 MONDO:0001701 True oropharyngeal anthrax gastrointestinal anthrax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000239 MONDO:0000308 True adiaspiromycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000241 MONDO:0006873 True Keshan disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000242 MONDO:0004678 True tinea barbae dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000243 MONDO:0004678 True ectothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000244 MONDO:0004678 True endothrix infectious disease dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000245 MONDO:0001461 True tinea imbricata tinea corporis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000249 MONDO:0001673 True secretory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000252 MONDO:0001673 True inflammatory diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000254 MONDO:0002041 True cutaneous mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000256 MONDO:0002041 True systemic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000257 MONDO:0001673 True acute diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000259 MONDO:0005502 True asymptomatic dengue dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000262 MONDO:0004795 True otomycosis otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000265 MONDO:0005275 True aspiration pneumonia lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000266 MONDO:0005657 True pulmonary aspergilloma aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000270 MONDO:0005087 True lower respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000271 MONDO:0006002 True tuberculous salpingitis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000273 MONDO:0019376 True Kunjin virus infectous disease West-Nile encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000282 MONDO:0005108 True Whitewater Arroyo hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000283 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000284 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000286 MONDO:0006011 True Epstein-Barr virus hepatitis viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000288 MONDO:0005154 True polycystic echinococcosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000288 MONDO:0005738 True polycystic echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000290 MONDO:0002428 True primary amebic meningoencephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000291 MONDO:0002428 True granulomatous amebic encephalitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000295 MONDO:0004664 True acanthocephaliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000303 MONDO:0000255 True conidiobolomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000307 MONDO:0005135 True parasitic Ichthyosporea infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000308 MONDO:0000256 True primary systemic mycosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000309 MONDO:0004892 True aniseikonia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000310 MONDO:0017881 True Alkhurma hemorrhagic fever Kyasanur forest disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000313 MONDO:0002319 True hypophosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000314 MONDO:0005113 True primary bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000315 MONDO:0005113 True commensal bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000316 MONDO:0005113 True opportunistic bacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000320 MONDO:0018077 True glandular tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000321 MONDO:0018077 True typhoidal tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000327 MONDO:0000314 True Buruli ulcer disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000328 MONDO:0002319 True hyperphosphatemia phosphorus metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000330 MONDO:0001246 True endemic typhus typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000331 MONDO:0001195 True Rickettsia helvetica spotted fever spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000332 MONDO:0000314 True sennetsu fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000333 MONDO:0005714 True early congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000335 MONDO:0004944 True parenchymatous neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000336 MONDO:0004944 True meningovascular neurosyphilis neurosyphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000337 MONDO:0005108 True exanthema subitum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000338 MONDO:0004651 True variola major infectious disease smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000339 MONDO:0000341 True spinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000340 MONDO:0000341 True bulbospinal polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000341 MONDO:0017373 True paralytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000346 MONDO:0005784 True Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000351 MONDO:0004736 True disorder of methionine catabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000355 MONDO:0019950 True Ullrich congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000359 MONDO:0000812 True spondylocostal dysostosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000359 MONDO:0018234 True spondylocostal dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000363 MONDO:0004497 True gummatous syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000368 MONDO:0018076 True extrapulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000369 MONDO:0000368 True abdominal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000371 MONDO:0004647 True oral cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000371 MONDO:0044925 True oral cavity carcinoma in situ oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000372 MONDO:0004647 True pharynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000372 MONDO:0021345 True pharynx carcinoma in situ carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000373 MONDO:0004647 True gall bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000376 MONDO:0004992 True respiratory system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000376 MONDO:0005087 True respiratory system cancer respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000377 MONDO:0006266 True malignant Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000378 MONDO:0002696 True malignant Sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000380 MONDO:0020669 True paranasal sinus carcinoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000380 MONDO:0056819 True paranasal sinus carcinoma nasal cavity and paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000381 MONDO:0005221 True infiltrating renal pelvis transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000382 MONDO:0005087 True respiratory system benign neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000382 MONDO:0005165 True respiratory system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000383 MONDO:0005165 True benign reproductive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000383 MONDO:0006054 True benign reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000384 MONDO:0004180 True bladder benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000384 MONDO:0004987 True bladder benign neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000385 MONDO:0004335 True benign digestive system neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000385 MONDO:0005165 True benign digestive system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000385 MONDO:0021223 True benign digestive system neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000386 MONDO:0024503 True digestive system neuroendocrine tumor, grade 1/2 digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000387 MONDO:0001245 True hypochromic microcytic anemia microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000389 MONDO:0005516 True atelosteogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000390 MONDO:0003004 True vitelliform macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000393 MONDO:0000408 True partial fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000395 MONDO:0000408 True alcohol-related birth defect fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000396 MONDO:0006497 True spastic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000397 MONDO:0006497 True ataxic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000400 MONDO:0006497 True mixed cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000402 MONDO:0002120 True small cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000405 MONDO:0005814 True anal canal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000407 MONDO:0006294 True malignant pleural solitary fibrous tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000408 MONDO:0000592 True fetal alcohol spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000411 MONDO:0005027 True electroclinical syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000412 MONDO:0000411 True neonatal period electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000413 MONDO:0000411 True infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000414 MONDO:0000411 True childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000415 MONDO:0000411 True adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000417 MONDO:0000414 True early onset absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000417 MONDO:0850093 True early onset absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000424 MONDO:0005528 True inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000426 MONDO:0000429 True autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000428 MONDO:0003847 True Y-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000429 MONDO:0003847 True autosomal genetic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000430 MONDO:0005169 True mature T-cell and NK-cell non-Hodgkin lymphoma neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000430 MONDO:0015760 True mature T-cell and NK-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000432 MONDO:0004095 True lymphoplasmacytic lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000437 MONDO:0002427 True cerebellar ataxia cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000446 MONDO:0005516 True midface dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000447 MONDO:0000426 True autosomal dominant polycystic liver disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000447 MONDO:0005154 True autosomal dominant polycystic liver disease liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000448 MONDO:0002366 True paraganglioma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000448 MONDO:0003847 True paraganglioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000448 MONDO:0019496 True paraganglioma neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000453 MONDO:0000992 True short QT syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000456 MONDO:0004736 True cerebral creatine deficiency syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000456 MONDO:0019243 True cerebral creatine deficiency syndrome inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000457 MONDO:0018177 True classical glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000458 MONDO:0018177 True proneural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000459 MONDO:0018177 True mesenchymal glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000460 MONDO:0018177 True neural glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000463 MONDO:0006025 True Ochoa syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000465 MONDO:0000992 True atrioventricular block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000466 MONDO:0000465 True first-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000467 MONDO:0000465 True second-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000468 MONDO:0000465 True third-degree atrioventricular block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000469 MONDO:0000992 True sinoatrial node disorder heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000470 MONDO:0005267 True endocardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000471 MONDO:0002869 True tricuspid valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000473 MONDO:0005385 True arterial disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000476 MONDO:0015494 True generalized dystonia isolated dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000477 MONDO:0003441 True focal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000478 MONDO:0003441 True multifocal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000479 MONDO:0003441 True segmental dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000480 MONDO:0000477 True anismus focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000481 MONDO:0000477 True cervical dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000482 MONDO:0000477 True focal hand dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000483 MONDO:0000477 True oculogyric crisis focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000485 MONDO:0000477 True spasmodic dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000486 MONDO:0000477 True craniofacial dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000487 MONDO:0000478 True hemidystonia multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000489 MONDO:0005560 True diabetic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000491 MONDO:0005053 True limb ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000492 MONDO:0000945 True chronic venous insufficiency venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000495 MONDO:0000592 True oppositional defiant disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000496 MONDO:0006032 True hemorrhagic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000497 MONDO:0002654 True pyometritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000498 MONDO:0006649 True arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000499 MONDO:0006649 True non-arteritic anterior ischemic optic neuropathy anterior ischemic optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000500 MONDO:0004631 True tongue squamous cell carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000500 MONDO:0004958 True tongue squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000502 MONDO:0004972 True villous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000503 MONDO:0003218 True lung adenocarcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000503 MONDO:0004660 True lung adenocarcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000503 MONDO:0005061 True lung adenocarcinoma in situ lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000507 MONDO:0002254 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000507 MONDO:0016112 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000508 MONDO:0001071 True syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000509 MONDO:0001071 True non-syndromic intellectual disability intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000513 MONDO:0000631 True bone ameloblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000514 MONDO:0002415 True bone squamous cell carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000514 MONDO:0005096 True bone squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000515 MONDO:0002129 True bone chondrosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000515 MONDO:0008977 True bone chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000516 MONDO:0000631 True phalanx chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000516 MONDO:0002360 True phalanx chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000517 MONDO:0007959 True brain stem medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000518 MONDO:0000812 True sacrum chordoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000518 MONDO:0002894 True sacrum chordoma spinal chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000519 MONDO:0002544 True corpus callosum oligodendroglioma brain oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000520 MONDO:0001952 True parietal lobe ependymal tumor parietal lobe cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000521 MONDO:0004669 True salivary gland carcinoma salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000524 MONDO:0015864 True mixed extragonadal germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000525 MONDO:0005694 True cecum villous adenoma cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000525 MONDO:0021271 True cecum villous adenoma villous adenoma of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000527 MONDO:0005484 True colon adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000530 MONDO:0005484 True rectum adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000532 MONDO:0003438 True lung combined type small cell adenocarcinoma combined small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000534 MONDO:0003036 True trachea mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000536 MONDO:0005517 True pharyngeal squamous cell carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000536 MONDO:0010150 True pharyngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000536 MONDO:0021345 True pharyngeal squamous cell carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000539 MONDO:0003939 True striated muscle rhabdoid tumor muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000539 MONDO:0005864 True striated muscle rhabdoid tumor muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000540 MONDO:0002995 True small intestinal neuroendocrine tumor G1 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000540 MONDO:0021533 True small intestinal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000541 MONDO:0003198 True jejunal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000541 MONDO:0006815 True jejunal adenocarcinoma jejunal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000543 MONDO:0021068 True ovarian melanoma ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000544 MONDO:0006320 True mucosal melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000548 MONDO:0018364 True ovarian clear cell cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000548 MONDO:0021144 True ovarian clear cell cancer ovarian clear cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000549 MONDO:0002749 True cervical neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000550 MONDO:0021072 True extra-adrenal sympathetic paraganglioma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000552 MONDO:0004988 True breast lobular carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000553 MONDO:0006003 True uterine corpus endometrial carcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000554 MONDO:0004259 True endocervical adenocarcinoma endocervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000554 MONDO:0005153 True endocervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000563 MONDO:0020380 True GRID2-related autosomal dominant spinocerebellar ataxia autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000565 MONDO:0005025 True infective endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000565 MONDO:0005550 True infective endocarditis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000568 MONDO:0002602 True autoimmune disorder of central nervous system central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000568 MONDO:0002977 True autoimmune disorder of central nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000569 MONDO:0005151 True autoimmune disorder of endocrine system endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000569 MONDO:0007179 True autoimmune disorder of endocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000572 MONDO:0015974 True recombinase activating gene 1 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000573 MONDO:0015974 True recombinase activating gene 2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000583 MONDO:0002211 True immunoglobulin beta deficiency B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000584 MONDO:0015977 True B cell linker protein deficiency agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000586 MONDO:0007179 True autoimmune disorder of exocrine system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000587 MONDO:0007179 True autoimmune disease of ear, nose and throat autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000588 MONDO:0004335 True autoimmune disorder of gastrointestinal tract digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000588 MONDO:0007179 True autoimmune disorder of gastrointestinal tract autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000589 MONDO:0002081 True autoimmune disorder of musculoskeletal system musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000589 MONDO:0007179 True autoimmune disorder of musculoskeletal system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000590 MONDO:0002977 True autoimmune disorder of peripheral nervous system autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000590 MONDO:0003620 True autoimmune disorder of peripheral nervous system peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000591 MONDO:0004994 True intrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000592 MONDO:0005503 True specific developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000594 MONDO:0005503 True pervasive developmental disorder developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000595 MONDO:0002025 True sexual and gender identity disorders psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000597 MONDO:0002103 True Munchausen by proxy factitious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000598 MONDO:0004750 True aphasia language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000599 MONDO:0004681 True writing disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000600 MONDO:0012000 True nosophobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000602 MONDO:0007179 True autoimmune disorder of blood autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000603 MONDO:0004995 True autoimmune disorder of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000603 MONDO:0007179 True autoimmune disorder of cardiovascular system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000605 MONDO:0005046 True hypersensitivity reaction disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000607 MONDO:0018898 True primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000610 MONDO:0005025 True marantic endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000611 MONDO:0005070 True pre-malignant neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000612 MONDO:0000621 True lymphatic system cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000612 MONDO:0005833 True lymphatic system cancer lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000620 MONDO:0000634 True breast benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000620 MONDO:0021100 True breast benign neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000621 MONDO:0004992 True immune system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000621 MONDO:0005046 True immune system cancer immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000624 MONDO:0000383 True benign female reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000624 MONDO:0021148 True benign female reproductive system neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000625 MONDO:0000383 True benign male reproductive system neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000625 MONDO:0003150 True benign male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000627 MONDO:0002082 True benign endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000627 MONDO:0005165 True benign endocrine neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000628 MONDO:0000648 True central nervous system organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000629 MONDO:0005165 True cardiovascular organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000630 MONDO:0005165 True immune system organ benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000631 MONDO:0000654 True bone benign neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000631 MONDO:0019060 True bone benign neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000632 MONDO:0000624 True uterine benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000632 MONDO:0021353 True uterine benign neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000633 MONDO:0000648 True sensory organ benign neoplasm nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000634 MONDO:0005165 True thoracic benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000634 MONDO:0021350 True thoracic benign neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000636 MONDO:0002081 True musculoskeletal system benign neoplasm musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000636 MONDO:0005165 True musculoskeletal system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000637 MONDO:0002081 True musculoskeletal system cancer musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000637 MONDO:0004992 True musculoskeletal system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000640 MONDO:0002714 True central nervous system primitive neuroectodermal neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000642 MONDO:0016642 True brain meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000643 MONDO:0000624 True vulvar benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000643 MONDO:0021049 True vulvar benign neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000644 MONDO:0000632 True cervical benign neoplasm uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000644 MONDO:0021230 True cervical benign neoplasm uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000645 MONDO:0000624 True fallopian tube benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000645 MONDO:0021092 True fallopian tube benign neoplasm fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000646 MONDO:0000624 True ovarian benign neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000646 MONDO:0021068 True ovarian benign neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000647 MONDO:0000624 True benign vaginal neoplasm benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000647 MONDO:0021050 True benign vaginal neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000648 MONDO:0005165 True nervous system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000648 MONDO:0021248 True nervous system benign neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000649 MONDO:0005872 True sensory system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000650 MONDO:0005165 True peritoneal benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000650 MONDO:0006901 True peritoneal benign neoplasm peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000652 MONDO:0002051 True integumentary system benign neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000652 MONDO:0005165 True integumentary system benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000653 MONDO:0002051 True integumentary system cancer integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000653 MONDO:0004992 True integumentary system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000654 MONDO:0000636 True benign connective and soft tissue neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000654 MONDO:0003900 True benign connective and soft tissue neoplasm connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000654 MONDO:0044334 True benign connective and soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000659 MONDO:0019464 True delta-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000660 MONDO:0005638 True akinetopsia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000661 MONDO:0005638 True alexithymia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000662 MONDO:0005638 True amusia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000663 MONDO:0005638 True anosognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000667 MONDO:0005638 True auditory agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000668 MONDO:0005638 True autotopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000671 MONDO:0005638 True finger agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000673 MONDO:0005638 True integrative agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000674 MONDO:0005638 True mirror agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000675 MONDO:0005638 True pain agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000676 MONDO:0005638 True phonagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000677 MONDO:0005638 True semantic agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000678 MONDO:0005638 True simultanagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000679 MONDO:0005638 True social emotional agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000680 MONDO:0005638 True astereognosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000681 MONDO:0005638 True tactile agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000682 MONDO:0005638 True time agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000683 MONDO:0000685 True topographical agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000685 MONDO:0005638 True visual agnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000686 MONDO:0000685 True alexia without agraphia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000687 MONDO:0005340 True diffuse alopecia areata alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000688 MONDO:0004736 True inborn organic aciduria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000690 MONDO:0003117 True body dysmorphic disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000693 MONDO:0004985 True bipolar II disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000694 MONDO:0002050 True seasonal affective disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000698 MONDO:0004736 True gamma-amino butyric acid metabolism disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000701 MONDO:0005292 True ischemic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000702 MONDO:0005292 True microscopic colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000703 MONDO:0000702 True collagenous colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000704 MONDO:0000702 True lymphocytic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000706 MONDO:0005292 True chemical colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000707 MONDO:0005292 True diversion colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000715 MONDO:0001082 True lymph node adenoid cystic carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000716 MONDO:0000599 True agraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000723 MONDO:0004730 True stutter disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000724 MONDO:0004750 True specific language impairment language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000726 MONDO:0005392 True idiopathic scoliosis scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000728 MONDO:0005328 True ptosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000733 MONDO:0000942 True cornea plana corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000736 MONDO:0019289 True dyschromatosis universalis hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000739 MONDO:0004867 True uvulitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000740 MONDO:0004867 True adenoid hypertrophy upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000741 MONDO:0002102 True angular cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000743 MONDO:0006858 True oral hairy leukoplakia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000744 MONDO:0005275 True lung abscess lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000748 MONDO:0002614 True mastoiditis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000749 MONDO:0002657 True breast abscess breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000750 MONDO:0006999 True dental abscess tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000751 MONDO:0002256 True cervical polyp cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000754 MONDO:0001593 True anal fistula rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000755 MONDO:0002263 True ectopic pregnancy female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000756 MONDO:0009993 True parameningeal embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000758 MONDO:0005664 True bacillary angiomatosis bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000761 MONDO:0019040 True syndrome caused by partial chromosomal deletion chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000762 MONDO:0019040 True syndrome caused by partial chromosomal duplication chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000763 MONDO:0018102 True epithelial and subepithelial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000764 MONDO:0018102 True epithelial-stromal TGFBI dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000766 MONDO:0018102 True corneal endothelial dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000771 MONDO:0005271 True allergic respiratory disease allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000774 MONDO:0000590 True autoimmune neuropathy autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000775 MONDO:0005271 True drug allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000777 MONDO:0005271 True gastrointestinal allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000807 MONDO:0005271 True latex allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000809 MONDO:0002610 True purpura fulminans purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000811 MONDO:0001389 True anomalous left coronary artery from the pulmonary artery congenital coronary artery anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000813 MONDO:0005267 True cardiac tuberculosis heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000814 MONDO:0003541 True B-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000814 MONDO:0020511 True B-cell adult acute lymphocytic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000815 MONDO:0000592 True fetal nicotine spectrum disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000816 MONDO:0002254 True abdominal obesity-metabolic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000819 MONDO:0002320 True anencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000824 MONDO:0001673 True congenital diarrhea diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000827 MONDO:0000314 True salmonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000828 MONDO:0017279 True juvenile-onset Parkinson disease young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000831 MONDO:0005385 True thrombotic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000833 MONDO:0005381 True bone remodeling disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000836 MONDO:0005381 True disease of bone structure bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000837 MONDO:0000833 True bone resorption disease bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000845 MONDO:0000833 True fibrous dysplasia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000849 MONDO:0002254 True fibrogenesis imperfecta ossium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000858 MONDO:0003409 True neuronal intestinal dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000863 MONDO:0009637 True myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000863 MONDO:0016387 True myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000863 MONDO:0020099 True myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000866 MONDO:0005336 True hereditary myoglobinuria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000870 MONDO:0004355 True childhood acute lymphoblastic leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000871 MONDO:0000870 True T-cell childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000871 MONDO:0004403 True T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000871 MONDO:0004963 True T-cell childhood acute lymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000872 MONDO:0000621 True B-cell childhood acute lymphoblastic leukemia immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000872 MONDO:0000870 True B-cell childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000872 MONDO:0020511 True B-cell childhood acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000873 MONDO:0003538 True lymphoblastic lymphoma precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000873 MONDO:0018908 True lymphoblastic lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000874 MONDO:0000873 True T-cell childhood lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000874 MONDO:0003659 True T-cell childhood lymphoblastic lymphoma pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000874 MONDO:0004403 True T-cell childhood lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000875 MONDO:0007896 True adult acute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000878 MONDO:0002708 True cytomegalovirus retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000879 MONDO:0002026 True cutaneous candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000884 MONDO:0015688 True myeloid and lymphoid neoplasms associated with FGFR1 abnormalities myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000888 MONDO:0004335 True gastrointestinal mucositis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000889 MONDO:0006670 True haemophilus meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000891 MONDO:0006210 True mixed fibrolamellar hepatocellular carcinoma fibrolamellar hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000892 MONDO:0002271 True colon medullary carcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000892 MONDO:0020794 True colon medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000893 MONDO:0004991 True mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000894 MONDO:0004991 True mucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000895 MONDO:0004991 True nonmucinous bronchioloalveolar adenocarcinoma minimally invasive lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000901 MONDO:0018905 True relapsed/refractory diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000903 MONDO:0020065 True myoclonus-dystonia syndrome combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000904 MONDO:0003847 True complex cortical dysplasia with other brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000904 MONDO:0005560 True complex cortical dysplasia with other brain malformations brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000908 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 13 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0000910 MONDO:0019200 True retinitis pigmentosa 6 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0000912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 5 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0000913 MONDO:0019350 True hereditary spherocytosis type 2 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000914 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0000918 MONDO:0000931 True endometritis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000919 MONDO:0000920 True ampulla of vater cancer duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000919 MONDO:0000921 True ampulla of vater cancer ampulla of vater neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000920 MONDO:0000956 True duodenum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000920 MONDO:0021375 True duodenum cancer tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000922 MONDO:0002263 True pelvic inflammatory disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000923 MONDO:0004849 True interstitial emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000924 MONDO:0004849 True compensatory emphysema pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000926 MONDO:0005328 True eye accommodation disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000927 MONDO:0004944 True asymptomatic neurosyphilis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000928 MONDO:0005012 True eyelid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000928 MONDO:0006325 True eyelid melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000928 MONDO:0021313 True eyelid melanoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000929 MONDO:0005012 True balloon cell malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000930 MONDO:0005012 True nodular malignant melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000931 MONDO:0002654 True endometrial disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000933 MONDO:0021071 True subglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000934 MONDO:0001572 True laryngeal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000934 MONDO:0002354 True laryngeal leiomyoma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000935 MONDO:0001825 True larynx squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000935 MONDO:0002354 True larynx squamous papilloma benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000938 MONDO:0001572 True gastric leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000938 MONDO:0021449 True gastric leiomyoma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000940 MONDO:0002428 True trypanosomiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000942 MONDO:0005328 True corneal disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000943 MONDO:0015486 True acute hydrops keratoconus keratoconus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000944 MONDO:0011057 True cerebral artery occlusion cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000945 MONDO:0004634 True venous insufficiency vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000946 MONDO:0000947 True psychologic vaginismus psychosexual disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000947 MONDO:0000595 True psychosexual disorder sexual and gender identity disorders SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000948 MONDO:0006733 True xerophthalmia dry eye syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000949 MONDO:0006170 True conjunctival degeneration conjunctival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000951 MONDO:0002586 True thymus lymphoma thymus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000951 MONDO:0004021 True thymus lymphoma mediastinal malignant lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000952 MONDO:0024311 True cancer of long bone of lower limb cancer affecting bone of limb skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000953 MONDO:0002129 True cancer of short bone of lower limb bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000954 MONDO:0000955 True Meckel diverticulum cancer ileum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000955 MONDO:0000956 True ileum cancer small intestine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000956 MONDO:0004251 True small intestine cancer small intestine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000956 MONDO:0005814 True small intestine cancer intestinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000957 MONDO:0001854 True lacrimal passage granuloma lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000960 MONDO:0005294 True diabetic peripheral angiopathy peripheral vascular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000961 MONDO:0000382 True endobronchial lipoma respiratory system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000961 MONDO:0002807 True endobronchial lipoma bronchial neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000961 MONDO:0005106 True endobronchial lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000961 MONDO:0044335 True endobronchial lipoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000962 MONDO:0005106 True spindle cell lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000963 MONDO:0005106 True esophageal lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000963 MONDO:0021459 True esophageal lipoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000964 MONDO:0005106 True skin lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000964 MONDO:0021440 True skin lipoma benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0000385 True liver lipoma benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0000627 True liver lipoma benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0005106 True liver lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000965 MONDO:0024477 True liver lipoma liver and intrahepatic bile duct neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000966 MONDO:0005106 True pleomorphic lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000967 MONDO:0005106 True conventional lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000968 MONDO:0002513 True kidney lipoma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000968 MONDO:0005106 True kidney lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000969 MONDO:0005106 True pleural lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000969 MONDO:0021457 True pleural lipoma benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000970 MONDO:0000620 True breast lipoma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000970 MONDO:0005106 True breast lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000971 MONDO:0005106 True chest wall lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000971 MONDO:0021529 True chest wall lipoma benign neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000972 MONDO:0005106 True gallbladder lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000972 MONDO:0021503 True gallbladder lipoma benign neoplasm of gallbladder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000973 MONDO:0005106 True external ear lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000973 MONDO:0021235 True external ear lipoma external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000973 MONDO:0021474 True external ear lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000974 MONDO:0005106 True axillary lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000974 MONDO:0036781 True axillary lipoma benign axillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000975 MONDO:0000625 True lipoma of spermatic cord benign male reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000975 MONDO:0000976 True lipoma of spermatic cord paratesticular lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000975 MONDO:0024582 True lipoma of spermatic cord male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000976 MONDO:0000383 True paratesticular lipoma benign reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000976 MONDO:0005106 True paratesticular lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000977 MONDO:0005106 True chondroid lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000978 MONDO:0021385 True extrahepatic bile duct lipoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000979 MONDO:0000314 True pinta disease primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000980 MONDO:0005311 True aortic atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000981 MONDO:0005904 True Histoplasma pericarditis pericarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000983 MONDO:0000596 True exhibitionism paraphilic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000986 MONDO:0002037 True pleurisy pleural disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000942 MONDO:0005328 True corneal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000943 MONDO:0015486 True acute hydrops keratoconus keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000944 MONDO:0011057 True cerebral artery occlusion cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000945 MONDO:0004634 True venous insufficiency vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000946 MONDO:0000947 True psychologic vaginismus psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000947 MONDO:0000595 True psychosexual disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000948 MONDO:0006733 True xerophthalmia dry eye syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000949 MONDO:0006170 True conjunctival degeneration conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000951 MONDO:0002586 True thymus lymphoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000951 MONDO:0004021 True thymus lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000952 MONDO:0024311 True cancer of long bone of lower limb cancer affecting bone of limb skeleton SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000953 MONDO:0002129 True cancer of short bone of lower limb bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000954 MONDO:0000955 True Meckel diverticulum cancer ileum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000955 MONDO:0000956 True ileum cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000956 MONDO:0004251 True small intestine cancer small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000956 MONDO:0005814 True small intestine cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000957 MONDO:0001854 True lacrimal passage granuloma lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000960 MONDO:0005294 True diabetic peripheral angiopathy peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0000382 True endobronchial lipoma respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0002807 True endobronchial lipoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0005106 True endobronchial lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000961 MONDO:0044335 True endobronchial lipoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000962 MONDO:0005106 True spindle cell lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000963 MONDO:0005106 True esophageal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000963 MONDO:0021459 True esophageal lipoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000964 MONDO:0005106 True skin lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000964 MONDO:0021440 True skin lipoma benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000965 MONDO:0000385 True liver lipoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0000627 True liver lipoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0005106 True liver lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000965 MONDO:0024477 True liver lipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000966 MONDO:0005106 True pleomorphic lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000967 MONDO:0005106 True conventional lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000968 MONDO:0002513 True kidney lipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000968 MONDO:0005106 True kidney lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000969 MONDO:0005106 True pleural lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000969 MONDO:0021457 True pleural lipoma benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000970 MONDO:0000620 True breast lipoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000970 MONDO:0005106 True breast lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000971 MONDO:0005106 True chest wall lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000971 MONDO:0021529 True chest wall lipoma benign neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000972 MONDO:0005106 True gallbladder lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000972 MONDO:0021503 True gallbladder lipoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000973 MONDO:0005106 True external ear lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000973 MONDO:0021235 True external ear lipoma external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000973 MONDO:0021474 True external ear lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000974 MONDO:0005106 True axillary lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000974 MONDO:0036781 True axillary lipoma benign axillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000975 MONDO:0000625 True lipoma of spermatic cord benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000975 MONDO:0000976 True lipoma of spermatic cord paratesticular lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000975 MONDO:0024582 True lipoma of spermatic cord male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000976 MONDO:0000383 True paratesticular lipoma benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000976 MONDO:0005106 True paratesticular lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000977 MONDO:0005106 True chondroid lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000978 MONDO:0021385 True extrahepatic bile duct lipoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000979 MONDO:0000314 True pinta disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000980 MONDO:0005311 True aortic atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000981 MONDO:0005904 True Histoplasma pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000983 MONDO:0000596 True exhibitionism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000986 MONDO:0002037 True pleurisy pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000987 MONDO:0005281 True cholesterolosis of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000988 MONDO:0002409 True discharging ear auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000990 MONDO:0004781 True acute subendocardial myocardial infarction acute myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000992 MONDO:0005267 True heart conduction disease heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000993 MONDO:0005096 True prostate squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000993 MONDO:0005159 True prostate squamous cell carcinoma prostate carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000994 MONDO:0008315 True malignant prostate phyllodes tumor prostate cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000994 MONDO:0021102 True malignant prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000994 MONDO:0037003 True malignant prostate phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000995 MONDO:0004689 True familial periodic paralysis inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000996 MONDO:0005062 True prostate lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000996 MONDO:0008315 True prostate lymphoma prostate cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000997 MONDO:0004896 True monocular esotropia esotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001000 MONDO:0015926 True mixed mineral dust pneumoconiosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001001 MONDO:0015926 True baritosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001003 MONDO:0015926 True pneumoconiosis due to talc pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001004 MONDO:0015926 True slate pneumoconiosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001006 MONDO:0003608 True glaucomatous atrophy of optic disk optic atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001008 MONDO:0003382 True blepharophimosis eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001009 MONDO:0001011 True solitary cyst of breast breast cyst SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001011 MONDO:0000620 True breast cyst breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001014 MONDO:0005059 True chronic leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001015 MONDO:0001007 True eosinophilic meningitis chronic meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001016 MONDO:0003283 True epididymis cancer epididymal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001016 MONDO:0005836 True epididymis cancer male reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001017 MONDO:0001016 True epididymal adenocarcinoma epididymis cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001017 MONDO:0004970 True epididymal adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001019 MONDO:0001020 True suppression amblyopia amblyopia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001021 MONDO:0001020 True ametropic amblyopia amblyopia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001022 MONDO:0001020 True disuse amblyopia amblyopia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001023 MONDO:0001014 True prolymphocytic leukemia chronic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001024 MONDO:0005275 True pneumonic plague lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000988 MONDO:0002409 True discharging ear auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000990 MONDO:0004781 True acute subendocardial myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000992 MONDO:0005267 True heart conduction disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000993 MONDO:0005096 True prostate squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000993 MONDO:0005159 True prostate squamous cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000994 MONDO:0008315 True malignant prostate phyllodes tumor prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000994 MONDO:0021102 True malignant prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000994 MONDO:0037003 True malignant prostate phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000995 MONDO:0004689 True familial periodic paralysis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000996 MONDO:0005062 True prostate lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000996 MONDO:0008315 True prostate lymphoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0000997 MONDO:0004896 True monocular esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001000 MONDO:0015926 True mixed mineral dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001001 MONDO:0015926 True baritosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001003 MONDO:0015926 True pneumoconiosis due to talc pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001004 MONDO:0015926 True slate pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001006 MONDO:0003608 True glaucomatous atrophy of optic disk optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001008 MONDO:0003382 True blepharophimosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001009 MONDO:0001011 True solitary cyst of breast breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001011 MONDO:0000620 True breast cyst breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001014 MONDO:0005059 True chronic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001015 MONDO:0001007 True eosinophilic meningitis chronic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001016 MONDO:0003283 True epididymis cancer epididymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001016 MONDO:0005836 True epididymis cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001017 MONDO:0001016 True epididymal adenocarcinoma epididymis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001017 MONDO:0004970 True epididymal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001019 MONDO:0001020 True suppression amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001021 MONDO:0001020 True ametropic amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001022 MONDO:0001020 True disuse amblyopia amblyopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001023 MONDO:0001014 True prolymphocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001024 MONDO:0005275 True pneumonic plague lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001024 MONDO:0019095 True pneumonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001025 MONDO:0001027 True seminal vesicle chronic gonorrhea gonococcal seminal vesiculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001027 MONDO:0004277 True gonococcal seminal vesiculitis gonorrhea SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001027 MONDO:0004767 True gonococcal seminal vesiculitis vesiculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001028 MONDO:0005076 True acute pericementitis periodontitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001029 MONDO:0002081 True Klippel-Feil syndrome musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001030 MONDO:0015486 True keratoconus, stable condition keratoconus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001031 MONDO:0005975 True purulent acute otitis media suppurative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001032 MONDO:0004577 True Mooren ulcer corneal ulcer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001033 MONDO:0004577 True mycotic corneal ulcer corneal ulcer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001034 MONDO:0004577 True marginal corneal ulcer corneal ulcer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001035 MONDO:0001036 True hypopyon ulcer hypopyon SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001037 MONDO:0004577 True ring corneal ulcer corneal ulcer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001038 MONDO:0004577 True perforated corneal ulcer corneal ulcer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001039 MONDO:0004867 True tonsillitis upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001040 MONDO:0004821 True nasopharyngitis nasopharyngeal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001041 MONDO:0005276 True dentin caries dental caries SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001042 MONDO:0004857 True patellar tendinitis tendinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001044 MONDO:0003749 True esophageal atresia esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001045 MONDO:0005020 True intestinal atresia intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001046 MONDO:0002519 True imperforate anus anus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001048 MONDO:0001849 True orbital granuloma chronic orbital inflammation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001049 MONDO:0005904 True Dressler syndrome pericarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001025 MONDO:0001027 True seminal vesicle chronic gonorrhea gonococcal seminal vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001027 MONDO:0004277 True gonococcal seminal vesiculitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001027 MONDO:0004767 True gonococcal seminal vesiculitis vesiculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001028 MONDO:0005076 True acute pericementitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001029 MONDO:0002081 True Klippel-Feil syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001030 MONDO:0015486 True keratoconus, stable condition keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001031 MONDO:0005975 True purulent acute otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001032 MONDO:0004577 True Mooren ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001033 MONDO:0004577 True mycotic corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001034 MONDO:0004577 True marginal corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001035 MONDO:0001036 True hypopyon ulcer hypopyon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001037 MONDO:0004577 True ring corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001038 MONDO:0004577 True perforated corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001039 MONDO:0004867 True tonsillitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001040 MONDO:0004821 True nasopharyngitis nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001041 MONDO:0005276 True dentin caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001042 MONDO:0004857 True patellar tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001044 MONDO:0003749 True esophageal atresia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001045 MONDO:0005020 True intestinal atresia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001046 MONDO:0002519 True imperforate anus anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001048 MONDO:0001849 True orbital granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001049 MONDO:0005904 True Dressler syndrome pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001050 MONDO:0004795 True malignant otitis externa otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001051 MONDO:0004795 True acute otitis externa otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001052 MONDO:0000262 True chronic fungal otitis externa otomycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001054 MONDO:0005085 True double pterygium pterygium SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001055 MONDO:0005085 True conjunctival pterygium pterygium SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001056 MONDO:0002516 True gastric cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0001056 MONDO:0021085 True gastric cancer gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001057 MONDO:0001056 True malignant gastric granular cell tumor gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001057 MONDO:0003252 True malignant gastric granular cell tumor granular cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001059 MONDO:0001056 True gastric lymphoma gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001059 MONDO:0004699 True gastric lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001060 MONDO:0005036 True microinvasive gastric cancer gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001061 MONDO:0001056 True pylorus cancer gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001062 MONDO:0001061 True pyloric antrum cancer pylorus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001063 MONDO:0001056 True cardia cancer gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001064 MONDO:0002172 True acute eustachian salpingitis otosalpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001066 MONDO:0006019 True late yaws yaws SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001067 MONDO:0006019 True early yaws yaws SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001068 MONDO:0000833 True osteomalacia bone remodeling disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001071 MONDO:0005503 True intellectual disability developmental disorder of mental health SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001072 MONDO:0005081 True mild pre-eclampsia preeclampsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001073 MONDO:0001824 True idiopathic progressive polyneuropathy polyneuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001074 MONDO:0002420 True chronic tic disorder tic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001076 MONDO:0002908 True glucose intolerance glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001079 MONDO:0002356 True pancreatic steatorrhea pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001080 MONDO:0001081 True acute gonococcal cervicitis acute cervicitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001081 MONDO:0002345 True acute cervicitis cervicitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001082 MONDO:0000612 True lymph node cancer lymphatic system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001082 MONDO:0024339 True lymph node cancer lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001083 MONDO:0006510 True Fanconi renotubular syndrome renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001084 MONDO:0003608 True primary optic atrophy optic atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001085 MONDO:0001166 True interstitial nephritis nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001086 MONDO:0003608 True partial optic atrophy optic atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001087 MONDO:0002028 True schizotypal personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001088 MONDO:0004781 True acute inferoposterior infarction acute myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001089 MONDO:0004781 True acute inferolateral myocardial infarction acute myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001090 MONDO:0004781 True acute anterolateral myocardial infarction acute myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001091 MONDO:0002278 True lipoma of colon benign colon neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001091 MONDO:0003885 True lipoma of colon colorectal lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001092 MONDO:0002278 True colon leiomyoma benign colon neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001092 MONDO:0003299 True colon leiomyoma colorectal leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001093 MONDO:0002013 True colonic lymphangioma lymphangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001093 MONDO:0002278 True colonic lymphangioma benign colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001094 MONDO:0005338 True residual stage of open angle glaucoma open-angle glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001095 MONDO:0003098 True mediastinum neuroblastoma mediastinal neural neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001095 MONDO:0005072 True mediastinum neuroblastoma neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001095 MONDO:0005843 True mediastinum neuroblastoma mediastinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001095 MONDO:0021089 True mediastinum neuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001096 MONDO:0003327 True mediastinum ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001098 MONDO:0005618 True separation anxiety disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001099 MONDO:0001011 True lactocele breast cyst SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001100 MONDO:0002657 True hypertrophy of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001101 MONDO:0002657 True fat necrosis of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001103 MONDO:0002428 True giardiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001104 MONDO:0004425 True toxic diffuse goiter hyperthyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001105 MONDO:0001200 True renal hypertension secondary hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001105 MONDO:0005240 True renal hypertension kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001106 MONDO:0005240 True kidney failure kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001108 MONDO:0001351 True broad ligament malignant neoplasm uterine adnexa cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001109 MONDO:0005246 True petrositis osteomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001110 MONDO:0006939 True chronic pyelonephritis pyelonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001112 MONDO:0005833 True bubonic plague lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001051 MONDO:0004795 True acute otitis externa otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001052 MONDO:0000262 True chronic fungal otitis externa otomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001054 MONDO:0005085 True double pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001055 MONDO:0005085 True conjunctival pterygium pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001056 MONDO:0002516 True gastric cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001056 MONDO:0021085 True gastric cancer gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001057 MONDO:0001056 True malignant gastric granular cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001057 MONDO:0003252 True malignant gastric granular cell tumor granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001059 MONDO:0001056 True gastric lymphoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001059 MONDO:0004699 True gastric lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001060 MONDO:0005036 True microinvasive gastric cancer gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001061 MONDO:0001056 True pylorus cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001062 MONDO:0001061 True pyloric antrum cancer pylorus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001063 MONDO:0001056 True cardia cancer gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001064 MONDO:0002172 True acute eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001066 MONDO:0006019 True late yaws yaws SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001067 MONDO:0006019 True early yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001068 MONDO:0000833 True osteomalacia bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001071 MONDO:0005503 True intellectual disability developmental disorder of mental health UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001072 MONDO:0005081 True mild pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001073 MONDO:0001824 True idiopathic progressive polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001074 MONDO:0002420 True chronic tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001076 MONDO:0002908 True glucose intolerance glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001079 MONDO:0002356 True pancreatic steatorrhea pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001080 MONDO:0001081 True acute gonococcal cervicitis acute cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001081 MONDO:0002345 True acute cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001082 MONDO:0000612 True lymph node cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001082 MONDO:0024339 True lymph node cancer lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001083 MONDO:0006510 True Fanconi renotubular syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001084 MONDO:0003608 True primary optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001085 MONDO:0001166 True interstitial nephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001086 MONDO:0003608 True partial optic atrophy optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001087 MONDO:0002028 True schizotypal personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001088 MONDO:0004781 True acute inferoposterior infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001089 MONDO:0004781 True acute inferolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001090 MONDO:0004781 True acute anterolateral myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001091 MONDO:0002278 True lipoma of colon benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001091 MONDO:0003885 True lipoma of colon colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001092 MONDO:0002278 True colon leiomyoma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001092 MONDO:0003299 True colon leiomyoma colorectal leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001093 MONDO:0002013 True colonic lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001093 MONDO:0002278 True colonic lymphangioma benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001094 MONDO:0005338 True residual stage of open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001095 MONDO:0003098 True mediastinum neuroblastoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001095 MONDO:0005072 True mediastinum neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001095 MONDO:0005843 True mediastinum neuroblastoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001095 MONDO:0021089 True mediastinum neuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001096 MONDO:0003327 True mediastinum ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001098 MONDO:0005618 True separation anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001099 MONDO:0001011 True lactocele breast cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001100 MONDO:0002657 True hypertrophy of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001101 MONDO:0002657 True fat necrosis of breast breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001103 MONDO:0002428 True giardiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001104 MONDO:0004425 True toxic diffuse goiter hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001105 MONDO:0001200 True renal hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001105 MONDO:0005240 True renal hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001106 MONDO:0005240 True kidney failure kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001108 MONDO:0001351 True broad ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001109 MONDO:0005246 True petrositis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001110 MONDO:0006939 True chronic pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001112 MONDO:0005833 True bubonic plague lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001112 MONDO:0019095 True bubonic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001113 MONDO:0004496 True Fiedler's myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001114 MONDO:0004496 True bacterial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001115 MONDO:0005571 True familial polycythemia polycythemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001116 MONDO:0002052 True mesenteric lymphadenitis lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001118 MONDO:0001195 True Queensland tick typhus spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001119 MONDO:0001889 True premature menopause ovarian dysfunction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001120 MONDO:0001121 True chronic frontal sinusitis frontal sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001121 MONDO:0005961 True frontal sinusitis sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001122 MONDO:0005842 True chronic maxillary sinusitis maxillary sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001123 MONDO:0005964 True chronic sphenoidal sinusitis sphenoid sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001126 MONDO:0004247 True gastric ulcer peptic ulcer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001127 MONDO:0004857 True tibialis tendinitis tendinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001128 MONDO:0000376 True nasal cavity cancer respiratory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001128 MONDO:0004756 True nasal cavity cancer nasal cavity neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001128 MONDO:0005627 True nasal cavity cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001129 MONDO:0001128 True nasal cavity olfactory neuroblastoma nasal cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001129 MONDO:0006329 True nasal cavity olfactory neuroblastoma olfactory neuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001130 MONDO:0001128 True nasal cavity lymphoma nasal cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001130 MONDO:0005062 True nasal cavity lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001132 MONDO:0000595 True sexual sadism disorder sexual and gender identity disorders SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001133 MONDO:0001134 True malignant essential hypertension essential hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001134 MONDO:0005044 True essential hypertension hypertensive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001135 MONDO:0000596 True voyeurism paraphilic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001138 MONDO:0002322 True angiodysplasia of intestine angiodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001138 MONDO:0005020 True angiodysplasia of intestine intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001139 MONDO:0000595 True sexual masochism disorder sexual and gender identity disorders SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001141 MONDO:0005441 True middle ear cholesterol granuloma otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001142 MONDO:0006858 True salivary gland disorder mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001143 MONDO:0003432 True paralytic strabismus strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001148 MONDO:0002800 True iliac vein thrombophlebitis thrombophlebitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001150 MONDO:0005560 True hydrocephalus brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001151 MONDO:0001134 True benign essential hypertension essential hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001152 MONDO:0002039 True amnestic disorder cognitive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001154 MONDO:0001195 True Siberian tick typhus spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001155 MONDO:0004247 True gastrojejunal ulcer peptic ulcer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001156 MONDO:0002028 True borderline personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001157 MONDO:0002028 True dependent personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001158 MONDO:0002028 True obsessive-compulsive personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001159 MONDO:0001160 True multiple personality disorder dissociative disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001160 MONDO:0002025 True dissociative disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001161 MONDO:0002028 True schizoid personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001162 MONDO:0002025 True impulse control disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001163 MONDO:0002028 True paranoid personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001164 MONDO:0002028 True antisocial personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001165 MONDO:0006858 True tongue disorder mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001166 MONDO:0005240 True nephritis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001167 MONDO:0000396 True spastic diplegia spastic cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001168 MONDO:0000396 True spastic hemiplegia spastic cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001169 MONDO:0000396 True spastic monoplegia spastic cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001171 MONDO:0001172 True acute salpingo-oophoritis salpingo-oophoritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001172 MONDO:0006877 True salpingo-oophoritis oophoritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001173 MONDO:0003619 True acute salpingitis salpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001174 MONDO:0006170 True conjunctival vascular disorder conjunctival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001175 MONDO:0005129 True immature cataract cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001176 MONDO:0005328 True lens disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001177 MONDO:0002519 True anorectal stricture anus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001178 MONDO:0000942 True pseudopterygium corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001179 MONDO:0000949 True pinguecula conjunctival degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001180 MONDO:0006712 True bullous keratopathy corneal edema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001181 MONDO:0006712 True secondary corneal edema corneal edema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001182 MONDO:0006712 True idiopathic corneal edema corneal edema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001183 MONDO:0006712 True contact lens corneal edema corneal edema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001185 MONDO:0001160 True dissociative amnesia dissociative disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001186 MONDO:0001160 True depersonalization disorder dissociative disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001187 MONDO:0004987 True urinary bladder cancer urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001187 MONDO:0006295 True urinary bladder cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001188 MONDO:0004699 True esophagus lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001188 MONDO:0007576 True esophagus lymphoma esophageal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001190 MONDO:0005683 True Brucella suis brucellosis brucellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001191 MONDO:0005550 True hirudiniasis infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001192 MONDO:0007576 True esophageal melanoma esophageal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001192 MONDO:0045070 True esophageal melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001196 MONDO:0000947 True psychologic dyspareunia psychosexual disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001198 MONDO:0002049 True acquired thrombocytopenia thrombocytopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001199 MONDO:0002409 True dislocation of ear ossicle auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001200 MONDO:0005044 True secondary hypertension hypertensive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001202 MONDO:0003105 True prostatic cyst prostate disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001204 MONDO:0007576 True esophagus sarcoma esophageal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001204 MONDO:0018078 True esophagus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001205 MONDO:0005041 True hypersecretion glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001206 MONDO:0005041 True aqueous misdirection glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001209 MONDO:0005108 True common wart viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001209 MONDO:0024666 True common wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001210 MONDO:0004751 True enophthalmos disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001211 MONDO:0000926 True total internal ophthalmoplegia eye accommodation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001211 MONDO:0002285 True total internal ophthalmoplegia pupil disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001212 MONDO:0005441 True non-suppurative otitis media otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001214 MONDO:0003799 True acute conjunctivitis conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001215 MONDO:0000308 True allescheriosis primary systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001216 MONDO:0003394 True pulp degeneration dental pulp disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001217 MONDO:0001214 True pseudomembranous conjunctivitis acute conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001218 MONDO:0004867 True acute laryngopharyngitis upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001219 MONDO:0001214 True serous conjunctivitis except viral acute conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001220 MONDO:0001223 True hypoparathyroidism parathyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001221 MONDO:0003749 True esophageal varices esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001223 MONDO:0005151 True parathyroid gland disorder endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001224 MONDO:0005642 True Angelucci syndrome atopic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001225 MONDO:0002491 True opioid abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001226 MONDO:0001214 True acute contagious conjunctivitis acute conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001228 MONDO:0001214 True conjunctival folliculosis acute conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001229 MONDO:0004235 True small intestine diverticulitis diverticulitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001230 MONDO:0004751 True acute orbital inflammation disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001231 MONDO:0001230 True orbital periostitis acute orbital inflammation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001232 MONDO:0001230 True orbital osteomyelitis acute orbital inflammation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001233 MONDO:0001230 True orbital tenonitis acute orbital inflammation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001114 MONDO:0004496 True bacterial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001115 MONDO:0005571 True familial polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001116 MONDO:0002052 True mesenteric lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001118 MONDO:0001195 True Queensland tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001119 MONDO:0001889 True premature menopause ovarian dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001120 MONDO:0001121 True chronic frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001121 MONDO:0005961 True frontal sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001122 MONDO:0005842 True chronic maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001123 MONDO:0005964 True chronic sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001126 MONDO:0004247 True gastric ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001127 MONDO:0004857 True tibialis tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001128 MONDO:0000376 True nasal cavity cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001128 MONDO:0004756 True nasal cavity cancer nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001128 MONDO:0005627 True nasal cavity cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001129 MONDO:0001128 True nasal cavity olfactory neuroblastoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001129 MONDO:0006329 True nasal cavity olfactory neuroblastoma olfactory neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001130 MONDO:0001128 True nasal cavity lymphoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001130 MONDO:0005062 True nasal cavity lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001132 MONDO:0000595 True sexual sadism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001133 MONDO:0001134 True malignant essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001134 MONDO:0005044 True essential hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001135 MONDO:0000596 True voyeurism paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001138 MONDO:0002322 True angiodysplasia of intestine angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001138 MONDO:0005020 True angiodysplasia of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001139 MONDO:0000595 True sexual masochism disorder sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001141 MONDO:0005441 True middle ear cholesterol granuloma otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001142 MONDO:0006858 True salivary gland disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001143 MONDO:0003432 True paralytic strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001148 MONDO:0002800 True iliac vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001150 MONDO:0005560 True hydrocephalus brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001151 MONDO:0001134 True benign essential hypertension essential hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001152 MONDO:0002039 True amnestic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001154 MONDO:0001195 True Siberian tick typhus spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001155 MONDO:0004247 True gastrojejunal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001156 MONDO:0002028 True borderline personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001157 MONDO:0002028 True dependent personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001158 MONDO:0002028 True obsessive-compulsive personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001159 MONDO:0001160 True multiple personality disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001160 MONDO:0002025 True dissociative disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001161 MONDO:0002028 True schizoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001162 MONDO:0002025 True impulse control disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001163 MONDO:0002028 True paranoid personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001164 MONDO:0002028 True antisocial personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001165 MONDO:0006858 True tongue disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001166 MONDO:0005240 True nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001167 MONDO:0000396 True spastic diplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001168 MONDO:0000396 True spastic hemiplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001169 MONDO:0000396 True spastic monoplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001171 MONDO:0001172 True acute salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001172 MONDO:0006877 True salpingo-oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001173 MONDO:0003619 True acute salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001174 MONDO:0006170 True conjunctival vascular disorder conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001175 MONDO:0005129 True immature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001176 MONDO:0005328 True lens disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001177 MONDO:0002519 True anorectal stricture anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001178 MONDO:0000942 True pseudopterygium corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001179 MONDO:0000949 True pinguecula conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001180 MONDO:0006712 True bullous keratopathy corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001181 MONDO:0006712 True secondary corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001182 MONDO:0006712 True idiopathic corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001183 MONDO:0006712 True contact lens corneal edema corneal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001185 MONDO:0001160 True dissociative amnesia dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001186 MONDO:0001160 True depersonalization disorder dissociative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001187 MONDO:0004987 True urinary bladder cancer urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001187 MONDO:0006295 True urinary bladder cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001188 MONDO:0004699 True esophagus lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001188 MONDO:0007576 True esophagus lymphoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001190 MONDO:0005683 True Brucella suis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001191 MONDO:0005550 True hirudiniasis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001192 MONDO:0007576 True esophageal melanoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001192 MONDO:0045070 True esophageal melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001196 MONDO:0000947 True psychologic dyspareunia psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001198 MONDO:0002049 True acquired thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001199 MONDO:0002409 True dislocation of ear ossicle auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001200 MONDO:0005044 True secondary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001202 MONDO:0003105 True prostatic cyst prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001204 MONDO:0007576 True esophagus sarcoma esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001204 MONDO:0018078 True esophagus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001205 MONDO:0005041 True hypersecretion glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001206 MONDO:0005041 True aqueous misdirection glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001209 MONDO:0005108 True common wart viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001209 MONDO:0024666 True common wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001210 MONDO:0004751 True enophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001211 MONDO:0000926 True total internal ophthalmoplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001211 MONDO:0002285 True total internal ophthalmoplegia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001212 MONDO:0005441 True non-suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001214 MONDO:0003799 True acute conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001215 MONDO:0000308 True allescheriosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001216 MONDO:0003394 True pulp degeneration dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001217 MONDO:0001214 True pseudomembranous conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001218 MONDO:0004867 True acute laryngopharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001219 MONDO:0001214 True serous conjunctivitis except viral acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001220 MONDO:0001223 True hypoparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001221 MONDO:0003749 True esophageal varices esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001223 MONDO:0005151 True parathyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001224 MONDO:0005642 True Angelucci syndrome atopic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001225 MONDO:0002491 True opioid abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001226 MONDO:0001214 True acute contagious conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001228 MONDO:0001214 True conjunctival folliculosis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001229 MONDO:0004235 True small intestine diverticulitis diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001230 MONDO:0004751 True acute orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001231 MONDO:0001230 True orbital periostitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001232 MONDO:0001230 True orbital osteomyelitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001233 MONDO:0001230 True orbital tenonitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001234 MONDO:0002409 True adhesive otitis media auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001235 MONDO:0001236 True appendix cancer appendiceal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001237 MONDO:0001235 True appendix lymphoma appendix cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001238 MONDO:0005571 True polycythemia neonatorum polycythemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001239 MONDO:0001240 True anemia of prematurity neonatal anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001240 MONDO:0002280 True neonatal anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001241 MONDO:0001475 True transient neonatal neutropenia neutropenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001242 MONDO:0001243 True disseminated intravascular coagulation in newborn disseminated intravascular coagulation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001243 MONDO:0002305 True disseminated intravascular coagulation thrombophilia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001245 MONDO:0002280 True microcytic anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001247 MONDO:0003699 True social phobia phobic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001250 MONDO:0005328 True keratomalacia eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001251 MONDO:0004508 True chronic apical periodontitis periapical periodontitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001252 MONDO:0004425 True Plummer disease hyperthyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001255 MONDO:0017853 True ventilation pneumonitis hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001256 MONDO:0006500 True arteriovenous hemangioma/malformation hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001257 MONDO:0002311 True retinal microaneurysm retinal vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001258 MONDO:0003718 True vertebral artery occlusion occlusion precerebral artery SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001259 MONDO:0002721 True pituitary gland infarction necrosis of pituitary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001260 MONDO:0015254 True cercarial dermatitis schistosomiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001261 MONDO:0000467 True Mobitz type II atrioventricular block second-degree atrioventricular block SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001263 MONDO:0002708 True histoplasmosis retinitis retinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001265 MONDO:0005485 True schizophreniform disorder psychotic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001268 MONDO:0002021 True gingival recession gingival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001269 MONDO:0005328 True scleral disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001270 MONDO:0007197 True stone in bladder diverticulum bladder diverticulum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001271 MONDO:0001176 True lens subluxation lens disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001272 MONDO:0003409 True functional diarrhea colonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001273 MONDO:0003409 True megacolon colonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001274 MONDO:0002519 True anal spasm anus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001275 MONDO:0001279 True spinal meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001275 MONDO:0021234 True spinal meningioma spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001276 MONDO:0004750 True expressive language disorder language disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001277 MONDO:0011057 True cerebral arteritis cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001279 MONDO:0016642 True intraspinal meningioma meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001280 MONDO:0001898 True choroiditis optic choroid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001235 MONDO:0001236 True appendix cancer appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001237 MONDO:0001235 True appendix lymphoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001238 MONDO:0005571 True polycythemia neonatorum polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001239 MONDO:0001240 True anemia of prematurity neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001240 MONDO:0002280 True neonatal anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001241 MONDO:0001475 True transient neonatal neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001242 MONDO:0001243 True disseminated intravascular coagulation in newborn disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001243 MONDO:0002305 True disseminated intravascular coagulation thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001245 MONDO:0002280 True microcytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001247 MONDO:0003699 True social phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001250 MONDO:0005328 True keratomalacia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001251 MONDO:0004508 True chronic apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001252 MONDO:0004425 True Plummer disease hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001255 MONDO:0017853 True ventilation pneumonitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001256 MONDO:0006500 True arteriovenous hemangioma/malformation hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001257 MONDO:0002311 True retinal microaneurysm retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001258 MONDO:0003718 True vertebral artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001259 MONDO:0002721 True pituitary gland infarction necrosis of pituitary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001260 MONDO:0015254 True cercarial dermatitis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001261 MONDO:0000467 True Mobitz type II atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001263 MONDO:0002708 True histoplasmosis retinitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001265 MONDO:0005485 True schizophreniform disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001268 MONDO:0002021 True gingival recession gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001269 MONDO:0005328 True scleral disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001270 MONDO:0007197 True stone in bladder diverticulum bladder diverticulum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001271 MONDO:0001176 True lens subluxation lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001272 MONDO:0003409 True functional diarrhea colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001273 MONDO:0003409 True megacolon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001274 MONDO:0002519 True anal spasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001275 MONDO:0001279 True spinal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001275 MONDO:0021234 True spinal meningioma spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001276 MONDO:0004750 True expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001277 MONDO:0011057 True cerebral arteritis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001279 MONDO:0016642 True intraspinal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001280 MONDO:0001898 True choroiditis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001281 MONDO:0001286 True alternating exotropia exotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001282 MONDO:0002156 True fallopian tube endometriosis fallopian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001282 MONDO:0005133 True fallopian tube endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001283 MONDO:0002263 True endosalpingiosis female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001284 MONDO:0005020 True endometriosis of intestine intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001282 MONDO:0002156 True fallopian tube endometriosis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001282 MONDO:0005133 True fallopian tube endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001283 MONDO:0002263 True endosalpingiosis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001284 MONDO:0005020 True endometriosis of intestine intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001284 MONDO:0005133 True endometriosis of intestine endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001285 MONDO:0005133 True endometriosis of pelvic peritoneum endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001286 MONDO:0003432 True exotropia strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001286 MONDO:0003432 True exotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001287 MONDO:0005133 True endometriosis in cutaneous scar endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001288 MONDO:0005133 True endometriosis of rectovaginal septum and vagina endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001290 MONDO:0006794 True allergic cutaneous vasculitis hypersensitivity vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001291 MONDO:0005560 True brain compression brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001292 MONDO:0003620 True autonomic nervous system disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001293 MONDO:0000933 True subglottis cancer subglottis neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001293 MONDO:0002352 True subglottis cancer larynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001294 MONDO:0001300 True Horner syndrome autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001295 MONDO:0001292 True idiopathic peripheral autonomic neuropathy autonomic nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001296 MONDO:0004588 True acquired night blindness night blindness UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001296 MONDO:0006873 True acquired night blindness nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001297 MONDO:0001370 True cardiac tamponade pericardial effusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001300 MONDO:0001292 True autonomic neuropathy autonomic nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001301 MONDO:0005451 True rumination disorder eating disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001302 MONDO:0005267 True hypertensive heart disease heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001303 MONDO:0002285 True abnormal pupillary function pupil disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001305 MONDO:0004382 True laryngostenosis laryngeal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001307 MONDO:0004903 True corneal abscess deep keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001308 MONDO:0000942 True corneal deposit corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001309 MONDO:0002782 True oculomotor nerve paralysis cranial nerve palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001309 MONDO:0003546 True oculomotor nerve paralysis third cranial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001310 MONDO:0000942 True Bowman's membrane folds or rupture corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001312 MONDO:0002738 True acute serous otitis media acute transudative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001313 MONDO:0001312 True acute allergic serous otitis media acute serous otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001314 MONDO:0005578 True chondrocalcinosis arthritic joint disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001315 MONDO:0003117 True neurocirculatory asthenia somatoform disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001316 MONDO:0006670 True streptococcal meningitis bacterial meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001317 MONDO:0004768 True phlyctenulosis keratoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001318 MONDO:0004298 True functional gastric disease stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001319 MONDO:0001187 True bladder lateral wall cancer urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001320 MONDO:0001269 True ring staphyloma scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001322 MONDO:0001340 True pericardium cancer heart cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001322 MONDO:0021381 True pericardium cancer neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001325 MONDO:0005836 True penile cancer male reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001325 MONDO:0006895 True penile cancer penile neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001326 MONDO:0003394 True dental pulp necrosis dental pulp disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001288 MONDO:0005133 True endometriosis of rectovaginal septum and vagina endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001290 MONDO:0006794 True allergic cutaneous vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001291 MONDO:0005560 True brain compression brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001292 MONDO:0003620 True autonomic nervous system disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001293 MONDO:0000933 True subglottis cancer subglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001293 MONDO:0002352 True subglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001294 MONDO:0001300 True Horner syndrome autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001295 MONDO:0001292 True idiopathic peripheral autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001296 MONDO:0004588 True acquired night blindness night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001296 MONDO:0006873 True acquired night blindness nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001297 MONDO:0001370 True cardiac tamponade pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001300 MONDO:0001292 True autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001301 MONDO:0005451 True rumination disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001302 MONDO:0005267 True hypertensive heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001303 MONDO:0002285 True abnormal pupillary function pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001305 MONDO:0004382 True laryngostenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001307 MONDO:0004903 True corneal abscess deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001308 MONDO:0000942 True corneal deposit corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001309 MONDO:0002782 True oculomotor nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001309 MONDO:0003546 True oculomotor nerve paralysis third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001310 MONDO:0000942 True Bowman's membrane folds or rupture corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001312 MONDO:0002738 True acute serous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001313 MONDO:0001312 True acute allergic serous otitis media acute serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001314 MONDO:0005578 True chondrocalcinosis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001315 MONDO:0003117 True neurocirculatory asthenia somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001316 MONDO:0006670 True streptococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001317 MONDO:0004768 True phlyctenulosis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001318 MONDO:0004298 True functional gastric disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001319 MONDO:0001187 True bladder lateral wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001320 MONDO:0001269 True ring staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001322 MONDO:0001340 True pericardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001322 MONDO:0021381 True pericardium cancer neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001325 MONDO:0005836 True penile cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001325 MONDO:0006895 True penile cancer penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001326 MONDO:0003394 True dental pulp necrosis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001327 MONDO:0001592 True pelvic muscle wasting prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001329 MONDO:0000926 True accommodative spasm eye accommodation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001330 MONDO:0000926 True presbyopia eye accommodation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001331 MONDO:0006170 True conjunctival deposit conjunctival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001334 MONDO:0003382 True hypertrichosis of eyelid eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001334 MONDO:0019280 True hypertrichosis of eyelid hypertrichosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001335 MONDO:0003037 True hypotrichosis of eyelid hypotrichosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001335 MONDO:0003382 True hypotrichosis of eyelid eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001336 MONDO:0002525 True familial hyperlipidemia inherited lipid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001329 MONDO:0000926 True accommodative spasm eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001330 MONDO:0000926 True presbyopia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001331 MONDO:0006170 True conjunctival deposit conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001334 MONDO:0003382 True hypertrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001334 MONDO:0019280 True hypertrichosis of eyelid hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001335 MONDO:0003037 True hypotrichosis of eyelid hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001335 MONDO:0003382 True hypotrichosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001336 MONDO:0002525 True familial hyperlipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001337 MONDO:0008420 True inflamed seborrheic keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001338 MONDO:0004508 True acute apical periodontitis periapical periodontitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001339 MONDO:0002405 True portal vein thrombosis hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001339 MONDO:0004634 True portal vein thrombosis vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001340 MONDO:0003274 True heart cancer thoracic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001340 MONDO:0021209 True heart cancer heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001341 MONDO:0001342 True selective IgA deficiency disease dysgammaglobulinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001342 MONDO:0003739 True dysgammaglobulinemia selective immunoglobulin deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001345 MONDO:0002491 True antidepressant type abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001347 MONDO:0016106 True facioscapulohumeral muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001349 MONDO:0005276 True odontoclasia dental caries SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001351 MONDO:0002715 True uterine adnexa cancer uterine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001352 MONDO:0001351 True round ligament malignant neoplasm uterine adnexa cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001355 MONDO:0005328 True ocular siderosis eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001356 MONDO:0006873 True iron deficiency anemia nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001358 MONDO:0000270 True bronchial disorder lower respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001360 MONDO:0004390 True blind hypotensive eye ocular hypotension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001361 MONDO:0004843 True spontaneous ocular nystagmus pathologic nystagmus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001364 MONDO:0011284 True regular astigmatism astigmatism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001366 MONDO:0002332 True splenic sequestration splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001368 MONDO:0001515 True phthisical cornea corneal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001369 MONDO:0002647 True chronic laryngitis laryngitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001370 MONDO:0000474 True pericardial effusion pericardium disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001371 MONDO:0006873 True protein-energy malnutrition nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001372 MONDO:0001187 True bladder neck cancer urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001373 MONDO:0001187 True urinary bladder posterior wall cancer urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001374 MONDO:0001187 True bladder sarcoma urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001374 MONDO:0018078 True bladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001376 MONDO:0001187 True urinary bladder anterior wall cancer urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001377 MONDO:0004860 True vitreous syneresis vitreous disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001378 MONDO:0001187 True urachus cancer urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001380 MONDO:0001187 True bladder dome cancer urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001381 MONDO:0001187 True bladder lymphoma urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001381 MONDO:0005062 True bladder lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001382 MONDO:0005154 True hepatorenal syndrome liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001383 MONDO:0001384 True degenerative myopia myopia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001384 MONDO:0004892 True myopia refractive error SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001385 MONDO:0003584 True cortical blindness visual cortex disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001387 MONDO:0001325 True penile sarcoma penile cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001387 MONDO:0018078 True penile sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001388 MONDO:0001325 True glans penis cancer penile cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001389 MONDO:0005010 True congenital coronary artery anomaly coronary artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001390 MONDO:0004892 True transient refractive change refractive error SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001338 MONDO:0004508 True acute apical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001339 MONDO:0002405 True portal vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001339 MONDO:0004634 True portal vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001340 MONDO:0003274 True heart cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001340 MONDO:0021209 True heart cancer heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001341 MONDO:0001342 True selective IgA deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001342 MONDO:0003739 True dysgammaglobulinemia selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001345 MONDO:0002491 True antidepressant type abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001347 MONDO:0016106 True facioscapulohumeral muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001349 MONDO:0005276 True odontoclasia dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001351 MONDO:0002715 True uterine adnexa cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001352 MONDO:0001351 True round ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001355 MONDO:0005328 True ocular siderosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001356 MONDO:0006873 True iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001358 MONDO:0000270 True bronchial disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001360 MONDO:0004390 True blind hypotensive eye ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001361 MONDO:0004843 True spontaneous ocular nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001364 MONDO:0011284 True regular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001366 MONDO:0002332 True splenic sequestration splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001368 MONDO:0001515 True phthisical cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001369 MONDO:0002647 True chronic laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001370 MONDO:0000474 True pericardial effusion pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001371 MONDO:0006873 True protein-energy malnutrition nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001372 MONDO:0001187 True bladder neck cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001373 MONDO:0001187 True urinary bladder posterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001374 MONDO:0001187 True bladder sarcoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001374 MONDO:0018078 True bladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001376 MONDO:0001187 True urinary bladder anterior wall cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001377 MONDO:0004860 True vitreous syneresis vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001378 MONDO:0001187 True urachus cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001380 MONDO:0001187 True bladder dome cancer urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001381 MONDO:0001187 True bladder lymphoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001381 MONDO:0005062 True bladder lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001382 MONDO:0005154 True hepatorenal syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001383 MONDO:0001384 True degenerative myopia myopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001384 MONDO:0004892 True myopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001385 MONDO:0003584 True cortical blindness visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001387 MONDO:0001325 True penile sarcoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001387 MONDO:0018078 True penile sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001388 MONDO:0001325 True glans penis cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001389 MONDO:0005010 True congenital coronary artery anomaly coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001390 MONDO:0004892 True transient refractive change refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001391 MONDO:0005124 True indeterminate leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001392 MONDO:0001286 True monocular exotropia exotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001393 MONDO:0002164 True peripheral focal chorioretinitis focal chorioretinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001395 MONDO:0003085 True macular keratitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001392 MONDO:0001286 True monocular exotropia exotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001393 MONDO:0002164 True peripheral focal chorioretinitis focal chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001395 MONDO:0003085 True macular keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001396 MONDO:0004588 True abnormal threshold of rods night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001397 MONDO:0005244 True mononeuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001398 MONDO:0004180 True ureter benign neoplasm benign urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001398 MONDO:0021111 True ureter benign neoplasm ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001399 MONDO:0001398 True ureter leiomyoma ureter benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001399 MONDO:0001572 True ureter leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001400 MONDO:0001398 True schwannoma of ureter ureter benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001400 MONDO:0004820 True schwannoma of ureter peripheral nerve schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001401 MONDO:0004379 True female breast nipple and areola cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001402 MONDO:0001416 True vaginal cancer female reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001402 MONDO:0021050 True vaginal cancer vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001403 MONDO:0001528 True labium majus cancer vulva cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001404 MONDO:0004592 True ecthyma impetigo SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001405 MONDO:0004678 True dermatophytosis of groin and perianal area dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001406 MONDO:0003620 True peripheral nervous system neoplasm peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001406 MONDO:0021248 True peripheral nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001407 MONDO:0000376 True tracheal cancer respiratory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001407 MONDO:0021210 True tracheal cancer trachea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001408 MONDO:0005244 True ischemic neuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001409 MONDO:0003749 True esophagitis esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001410 MONDO:0002234 True postmenopausal atrophic vaginitis vaginitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001411 MONDO:0018234 True synostosis dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001412 MONDO:0001331 True conjunctival concretion conjunctival deposit SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001397 MONDO:0005244 True mononeuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001398 MONDO:0004180 True ureter benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001398 MONDO:0021111 True ureter benign neoplasm ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001399 MONDO:0001398 True ureter leiomyoma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001399 MONDO:0001572 True ureter leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001400 MONDO:0001398 True schwannoma of ureter ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001400 MONDO:0004820 True schwannoma of ureter peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001401 MONDO:0004379 True female breast nipple and areola cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001402 MONDO:0001416 True vaginal cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001402 MONDO:0021050 True vaginal cancer vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001403 MONDO:0001528 True labium majus cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001404 MONDO:0004592 True ecthyma impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001405 MONDO:0004678 True dermatophytosis of groin and perianal area dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001406 MONDO:0003620 True peripheral nervous system neoplasm peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001406 MONDO:0021248 True peripheral nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001407 MONDO:0000376 True tracheal cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001407 MONDO:0021210 True tracheal cancer trachea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001408 MONDO:0005244 True ischemic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001409 MONDO:0003749 True esophagitis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001410 MONDO:0002234 True postmenopausal atrophic vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001411 MONDO:0018234 True synostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001412 MONDO:0001331 True conjunctival concretion conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001413 MONDO:0018077 True ulceroglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001414 MONDO:0002933 True osteopoikilosis osteosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001415 MONDO:0002329 True atrophy of testis testicular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001416 MONDO:0002149 True female reproductive organ cancer reproductive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001416 MONDO:0021148 True female reproductive organ cancer female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001417 MONDO:0001407 True tracheal lymphoma tracheal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001417 MONDO:0005062 True tracheal lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001418 MONDO:0001407 True trachea sarcoma tracheal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001418 MONDO:0018078 True trachea sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001419 MONDO:0003184 True trachea squamous cell carcinoma trachea carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001419 MONDO:0005096 True trachea squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001420 MONDO:0002633 True trigeminal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001420 MONDO:0003543 True trigeminal nerve neoplasm trigeminal nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001421 MONDO:0021374 True frontal lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001422 MONDO:0005495 True primary aldosteronism adrenal gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001426 MONDO:0003098 True mediastinum neurofibroma mediastinal neural neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001426 MONDO:0016755 True mediastinum neurofibroma neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001427 MONDO:0004298 True Dieulafoy lesion stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001428 MONDO:0004298 True pylorospasm stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001429 MONDO:0006816 True transient arthropathy arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001430 MONDO:0006713 True deep corneal vascularisation corneal neovascularization SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001414 MONDO:0002933 True osteopoikilosis osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001415 MONDO:0002329 True atrophy of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001416 MONDO:0002149 True female reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001416 MONDO:0021148 True female reproductive organ cancer female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001417 MONDO:0001407 True tracheal lymphoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001417 MONDO:0005062 True tracheal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001418 MONDO:0001407 True trachea sarcoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001418 MONDO:0018078 True trachea sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001419 MONDO:0003184 True trachea squamous cell carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001419 MONDO:0005096 True trachea squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001420 MONDO:0002633 True trigeminal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001420 MONDO:0003543 True trigeminal nerve neoplasm trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001421 MONDO:0021374 True frontal lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001422 MONDO:0005495 True primary aldosteronism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001426 MONDO:0003098 True mediastinum neurofibroma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001426 MONDO:0016755 True mediastinum neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001427 MONDO:0004298 True Dieulafoy lesion stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001428 MONDO:0004298 True pylorospasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001429 MONDO:0006816 True transient arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001430 MONDO:0006713 True deep corneal vascularisation corneal neovascularization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001431 MONDO:0005885 True toxic or nutritional optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001433 MONDO:0002263 True vaginal disorder female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001434 MONDO:0003937 True inflammatory spondylopathy spondylitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001435 MONDO:0004579 True bullous retinoschisis retinoschisis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001436 MONDO:0002279 True hemosiderosis iron metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001437 MONDO:0005275 True pulmonary alveolar proteinosis lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001438 MONDO:0002771 True postinflammatory pulmonary fibrosis pulmonary fibrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001439 MONDO:0001269 True episcleritis periodica fugax scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001440 MONDO:0004768 True neurotrophic keratoconjunctivitis keratoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001441 MONDO:0005451 True pica disease eating disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001442 MONDO:0005371 True dysthymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001443 MONDO:0003648 True tympanosclerosis tympanic membrane disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001444 MONDO:0000940 True Chagas disease trypanosomiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001446 MONDO:0006026 True low compliance bladder urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001447 MONDO:0006026 True detrusor sphincter dyssynergia urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001451 MONDO:0004580 True peripheral retinal degeneration retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001452 MONDO:0001451 True pseudoretinitis pigmentosa peripheral retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001453 MONDO:0001451 True senile reticular retinal degeneration peripheral retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001454 MONDO:0001451 True Blessig's cysts peripheral retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001455 MONDO:0001451 True retinal lattice degeneration peripheral retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001456 MONDO:0001451 True cobblestone retinal degeneration peripheral retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001457 MONDO:0001451 True secondary vitreoretinal degeneration peripheral retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001459 MONDO:0001397 True radial neuropathy mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001460 MONDO:0005397 True dyshormonogenic goiter goiter SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001433 MONDO:0002263 True vaginal disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001434 MONDO:0003937 True inflammatory spondylopathy spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001435 MONDO:0004579 True bullous retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001436 MONDO:0002279 True hemosiderosis iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001437 MONDO:0005275 True pulmonary alveolar proteinosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001438 MONDO:0002771 True postinflammatory pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001439 MONDO:0001269 True episcleritis periodica fugax scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001440 MONDO:0004768 True neurotrophic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001441 MONDO:0005451 True pica disease eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001442 MONDO:0005371 True dysthymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001443 MONDO:0003648 True tympanosclerosis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001444 MONDO:0000940 True Chagas disease trypanosomiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001446 MONDO:0006026 True low compliance bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001447 MONDO:0006026 True detrusor sphincter dyssynergia urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001451 MONDO:0004580 True peripheral retinal degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001452 MONDO:0001451 True pseudoretinitis pigmentosa peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001453 MONDO:0001451 True senile reticular retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001454 MONDO:0001451 True Blessig's cysts peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001455 MONDO:0001451 True retinal lattice degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001456 MONDO:0001451 True cobblestone retinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001457 MONDO:0001451 True secondary vitreoretinal degeneration peripheral retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001459 MONDO:0001397 True radial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001460 MONDO:0005397 True dyshormonogenic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001461 MONDO:0004678 True tinea corporis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001462 MONDO:0021063 True descending colon cancer malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001463 MONDO:0001462 True splenic flexure cancer descending colon cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001464 MONDO:0021063 True sigmoid colon cancer malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001465 MONDO:0003085 True superficial keratitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001466 MONDO:0004768 True punctate epithelial keratoconjunctivitis keratoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001468 MONDO:0006816 True synovial plica syndrome arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001469 MONDO:0004298 True cascade stomach stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001470 MONDO:0002529 True anal margin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001470 MONDO:0002941 True anal margin squamous cell carcinoma anal margin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001470 MONDO:0006082 True anal margin squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001471 MONDO:0006764 True histoplasmosis meningitis fungal meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001472 MONDO:0005447 True testicular lymphoma testicular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001473 MONDO:0005495 True medulloadrenal hyperfunction adrenal gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001474 MONDO:0001172 True chronic salpingo-oophoritis salpingo-oophoritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001475 MONDO:0001609 True neutropenia agranulocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001476 MONDO:0005328 True coloboma eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001478 MONDO:0004892 True anisometropia refractive error SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001479 MONDO:0002922 True cutaneous diphtheria pyoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001480 MONDO:0005447 True malignant tumor of undescended testis testicular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001481 MONDO:0002800 True femoral vein thrombophlebitis thrombophlebitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001482 MONDO:0005059 True testicular leukemia leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001482 MONDO:0005447 True testicular leukemia testicular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001484 MONDO:0005090 True paranoid schizophrenia schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001485 MONDO:0005371 True atypical depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001488 MONDO:0001308 True anterior corneal pigmentation corneal deposit SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001490 MONDO:0000764 True corneal granular dystrophy epithelial-stromal TGFBI dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001462 MONDO:0021063 True descending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001463 MONDO:0001462 True splenic flexure cancer descending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001464 MONDO:0021063 True sigmoid colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001465 MONDO:0003085 True superficial keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001466 MONDO:0004768 True punctate epithelial keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001468 MONDO:0006816 True synovial plica syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001469 MONDO:0004298 True cascade stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001470 MONDO:0002529 True anal margin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001470 MONDO:0002941 True anal margin squamous cell carcinoma anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001470 MONDO:0006082 True anal margin squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001471 MONDO:0006764 True histoplasmosis meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001472 MONDO:0005447 True testicular lymphoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001473 MONDO:0005495 True medulloadrenal hyperfunction adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001474 MONDO:0001172 True chronic salpingo-oophoritis salpingo-oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001475 MONDO:0001609 True neutropenia agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001476 MONDO:0005328 True coloboma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001478 MONDO:0004892 True anisometropia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001479 MONDO:0002922 True cutaneous diphtheria pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001480 MONDO:0005447 True malignant tumor of undescended testis testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001481 MONDO:0002800 True femoral vein thrombophlebitis thrombophlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001482 MONDO:0005059 True testicular leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001482 MONDO:0005447 True testicular leukemia testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001484 MONDO:0005090 True paranoid schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001485 MONDO:0005371 True atypical depressive disorder mood disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001488 MONDO:0001308 True anterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001490 MONDO:0000764 True corneal granular dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001491 MONDO:0004979 True cough variant asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001492 MONDO:0001493 True kyphoscoliotic heart disease chronic pulmonary heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001493 MONDO:0004596 True chronic pulmonary heart disease cor pulmonale SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001495 MONDO:0003150 True hematocele of tunica vaginalis testis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001496 MONDO:0003150 True male genital organ stricture male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001497 MONDO:0003150 True male genital organ vascular disease male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001498 MONDO:0004869 True varicocele pelvic varices SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001499 MONDO:0005062 True retroperitoneal lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001499 MONDO:0005941 True retroperitoneal lymphoma retroperitoneal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001501 MONDO:0005941 True retroperitoneal sarcoma retroperitoneal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001501 MONDO:0018078 True retroperitoneal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001502 MONDO:0004993 True retroperitoneum carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001502 MONDO:0005941 True retroperitoneum carcinoma retroperitoneal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001503 MONDO:0004390 True primary eye hypotony ocular hypotension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001504 MONDO:0000596 True fetishistic disorder paraphilic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001505 MONDO:0002251 True alcoholic hepatitis hepatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001506 MONDO:0006032 True prostatocystitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001507 MONDO:0002008 True viral labyrinthitis labyrinthitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001507 MONDO:0005108 True viral labyrinthitis viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001508 MONDO:0004866 True patulous eustachian tube eustachian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001509 MONDO:0004751 True endocrine exophthalmos disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001510 MONDO:0004751 True lateral displacement of eye disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001511 MONDO:0001509 True thyrotoxic exophthalmos endocrine exophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001512 MONDO:0004751 True intermittent proptosis disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001513 MONDO:0004751 True pulsating exophthalmos disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001492 MONDO:0001493 True kyphoscoliotic heart disease chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001493 MONDO:0004596 True chronic pulmonary heart disease cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001495 MONDO:0003150 True hematocele of tunica vaginalis testis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001496 MONDO:0003150 True male genital organ stricture male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001497 MONDO:0003150 True male genital organ vascular disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001498 MONDO:0004869 True varicocele pelvic varices UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001499 MONDO:0005062 True retroperitoneal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001499 MONDO:0005941 True retroperitoneal lymphoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001501 MONDO:0005941 True retroperitoneal sarcoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001501 MONDO:0018078 True retroperitoneal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001502 MONDO:0004993 True retroperitoneum carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001502 MONDO:0005941 True retroperitoneum carcinoma retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001503 MONDO:0004390 True primary eye hypotony ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001504 MONDO:0000596 True fetishistic disorder paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001505 MONDO:0002251 True alcoholic hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001506 MONDO:0006032 True prostatocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001507 MONDO:0002008 True viral labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001507 MONDO:0005108 True viral labyrinthitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001508 MONDO:0004866 True patulous eustachian tube eustachian tube disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001509 MONDO:0004751 True endocrine exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001510 MONDO:0004751 True lateral displacement of eye disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001511 MONDO:0001509 True thyrotoxic exophthalmos endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001512 MONDO:0004751 True intermittent proptosis disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001513 MONDO:0004751 True pulsating exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001514 MONDO:0001592 True prolapse of urethra prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001514 MONDO:0004184 True prolapse of urethra urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001515 MONDO:0000942 True corneal degeneration corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001516 MONDO:0020128 True spinal muscular atrophy motor neuron disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001517 MONDO:0000916 True dysentery intestinal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001518 MONDO:0001519 True spastic entropion entropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001519 MONDO:0003382 True entropion eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001520 MONDO:0001162 True kleptomania impulse control disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001521 MONDO:0001162 True intermittent explosive disorder impulse control disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001522 MONDO:0001162 True pyromania impulse control disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001523 MONDO:0005328 True luxation of globe eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001525 MONDO:0003240 True thyrocalcitonin secretion disease thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001526 MONDO:0001528 True labia minora cancer vulva cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001526 MONDO:0002898 True labia minora cancer skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001527 MONDO:0003432 True conjugate gaze palsy strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001528 MONDO:0001416 True vulva cancer female reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001528 MONDO:0021049 True vulva cancer vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001529 MONDO:0002280 True pancytopenia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001530 MONDO:0001343 True secondary hyperparathyroidism of renal origin impaired renal function disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001530 MONDO:0006964 True secondary hyperparathyroidism of renal origin secondary hyperparathyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001531 MONDO:0005570 True blood coagulation disease hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001533 MONDO:0002183 True pes anserinus tendinitis or bursitis enthesopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001534 MONDO:0006170 True ocular hyperemia conjunctival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001535 MONDO:0002639 True vagus nerve disorder glossopharyngeal nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001536 MONDO:0000647 True vaginal leiomyoma benign vaginal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001536 MONDO:0001572 True vaginal leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001538 MONDO:0005053 True retinal ischemia ischemic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001538 MONDO:0005283 True retinal ischemia retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001539 MONDO:0008375 True retinal perforation retinal detachment SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001540 MONDO:0017853 True bagassosis hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001542 MONDO:0004797 True common peroneal nerve lesion mononeuritis of lower limb SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001544 MONDO:0004797 True tibial nerve palsy mononeuritis of lower limb SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001546 MONDO:0005095 True hypermobility of coccyx spondyloarthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001547 MONDO:0003648 True atrophic nonflaccid tympanic membrane tympanic membrane disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001548 MONDO:0001711 True hepatic coma hepatic encephalopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001551 MONDO:0002187 True ulceration of vulva vulvar disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001552 MONDO:0004681 True dyscalculia learning disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001553 MONDO:0001554 True phacolytic glaucoma phacogenic glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001554 MONDO:0005041 True phacogenic glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001555 MONDO:0010138 True neonatal thyrotoxicosis thyrotoxicosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001556 MONDO:0004184 True urethral obstruction urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001557 MONDO:0002183 True olecranon bursitis enthesopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001557 MONDO:0002471 True olecranon bursitis bursitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001514 MONDO:0004184 True prolapse of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001515 MONDO:0000942 True corneal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001516 MONDO:0020128 True spinal muscular atrophy motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001517 MONDO:0000916 True dysentery intestinal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001518 MONDO:0001519 True spastic entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001519 MONDO:0003382 True entropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001520 MONDO:0001162 True kleptomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001521 MONDO:0001162 True intermittent explosive disorder impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001522 MONDO:0001162 True pyromania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001523 MONDO:0005328 True luxation of globe eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001525 MONDO:0003240 True thyrocalcitonin secretion disease thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001526 MONDO:0001528 True labia minora cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001526 MONDO:0002898 True labia minora cancer skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001527 MONDO:0003432 True conjugate gaze palsy strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001528 MONDO:0001416 True vulva cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001528 MONDO:0021049 True vulva cancer vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001529 MONDO:0002280 True pancytopenia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001530 MONDO:0001343 True secondary hyperparathyroidism of renal origin impaired renal function disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001530 MONDO:0006964 True secondary hyperparathyroidism of renal origin secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001531 MONDO:0005570 True blood coagulation disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001533 MONDO:0002183 True pes anserinus tendinitis or bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001534 MONDO:0006170 True ocular hyperemia conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001535 MONDO:0002639 True vagus nerve disorder glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001536 MONDO:0000647 True vaginal leiomyoma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001536 MONDO:0001572 True vaginal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001538 MONDO:0005053 True retinal ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001538 MONDO:0005283 True retinal ischemia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001539 MONDO:0008375 True retinal perforation retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001540 MONDO:0017853 True bagassosis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001542 MONDO:0004797 True common peroneal nerve lesion mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001544 MONDO:0004797 True tibial nerve palsy mononeuritis of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001546 MONDO:0005095 True hypermobility of coccyx spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001547 MONDO:0003648 True atrophic nonflaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001548 MONDO:0001711 True hepatic coma hepatic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001551 MONDO:0002187 True ulceration of vulva vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001552 MONDO:0004681 True dyscalculia learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001553 MONDO:0001554 True phacolytic glaucoma phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001554 MONDO:0005041 True phacogenic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001555 MONDO:0010138 True neonatal thyrotoxicosis thyrotoxicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001556 MONDO:0004184 True urethral obstruction urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001557 MONDO:0002183 True olecranon bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001557 MONDO:0002471 True olecranon bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001559 MONDO:0001592 True perineocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001560 MONDO:0001561 True hypertrophic pyloric stenosis pyloric stenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001561 MONDO:0004298 True pyloric stenosis stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001562 MONDO:0007721 True displacement of cardia through esophageal hiatus hiatus hernia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001563 MONDO:0002453 True vestibulocochlear nerve disorder retrocochlear disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001563 MONDO:0003569 True vestibulocochlear nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001563 MONDO:0003620 True vestibulocochlear nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001565 MONDO:0001564 True abnormal retinal correspondence binocular vision disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001566 MONDO:0005557 True hypercalcemia disease calcium metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001567 MONDO:0005240 True nephrocalcinosis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001569 MONDO:0002546 True acoustic neuroma schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001571 MONDO:0002145 True gynecomastia disorder disorder of sexual differentiation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001572 MONDO:0006106 True leiomyoma benign smooth muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001574 MONDO:0005385 True capillary disorder vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001575 MONDO:0003617 True chronic gonococcal salpingitis chronic salpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001576 MONDO:0005294 True telangiectasis peripheral vascular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001579 MONDO:0000942 True corneal staphyloma corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001580 MONDO:0002460 True lacrimal duct cancer lacrimal system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001582 MONDO:0002043 True cicatricial ectropion ectropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001583 MONDO:0006626 True diabetic polyneuropathy diabetic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001584 MONDO:0003569 True ocular motility disease cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001585 MONDO:0002491 True hallucinogen abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001586 MONDO:0019249 True mucopolysaccharidosis type 1 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001588 MONDO:0004804 True chronic lacrimal gland enlargement dacryoadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001591 MONDO:0001519 True senile entropion entropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001592 MONDO:0002263 True prolapse of female genital organ female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001594 MONDO:0002471 True Achilles bursitis bursitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001595 MONDO:0005395 True choreatic disease movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001596 MONDO:0003117 True hypochondriasis somatoform disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001597 MONDO:0001142 True submandibular gland disorder salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001598 MONDO:0001142 True benign lymphoepithelial lesion of salivary gland salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001600 MONDO:0001142 True mucocele of salivary gland salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001560 MONDO:0001561 True hypertrophic pyloric stenosis pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001561 MONDO:0004298 True pyloric stenosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001562 MONDO:0007721 True displacement of cardia through esophageal hiatus hiatus hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001563 MONDO:0002453 True vestibulocochlear nerve disorder retrocochlear disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001563 MONDO:0003569 True vestibulocochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001563 MONDO:0003620 True vestibulocochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001565 MONDO:0001564 True abnormal retinal correspondence binocular vision disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001566 MONDO:0005557 True hypercalcemia disease calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001567 MONDO:0005240 True nephrocalcinosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001569 MONDO:0002546 True acoustic neuroma schwannoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001571 MONDO:0002145 True gynecomastia disorder disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001572 MONDO:0006106 True leiomyoma benign smooth muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001574 MONDO:0005385 True capillary disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001575 MONDO:0003617 True chronic gonococcal salpingitis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001576 MONDO:0005294 True telangiectasis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001579 MONDO:0000942 True corneal staphyloma corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001580 MONDO:0002460 True lacrimal duct cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001582 MONDO:0002043 True cicatricial ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001583 MONDO:0006626 True diabetic polyneuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001584 MONDO:0003569 True ocular motility disease cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001585 MONDO:0002491 True hallucinogen abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001586 MONDO:0019249 True mucopolysaccharidosis type 1 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001588 MONDO:0004804 True chronic lacrimal gland enlargement dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001591 MONDO:0001519 True senile entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001592 MONDO:0002263 True prolapse of female genital organ female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001594 MONDO:0002471 True Achilles bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001595 MONDO:0005395 True choreatic disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001596 MONDO:0003117 True hypochondriasis somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001597 MONDO:0001142 True submandibular gland disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001598 MONDO:0001142 True benign lymphoepithelial lesion of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001600 MONDO:0001142 True mucocele of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001601 MONDO:0005136 True Plasmodium ovale malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001602 MONDO:0001526 True labia minora carcinoma labia minora cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001603 MONDO:0001604 True paralytic lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001604 MONDO:0003382 True lagophthalmos eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001606 MONDO:0003641 True central nervous system leukemia central nervous system hematopoietic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001606 MONDO:0005059 True central nervous system leukemia leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001607 MONDO:0001082 True intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001608 MONDO:0001535 True vagus nerve neoplasm vagus nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001609 MONDO:0003785 True agranulocytosis leukopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001610 MONDO:0004926 True acute dacryocystitis dacryocystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001611 MONDO:0004926 True phlegmonous dacryocystitis dacryocystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001612 MONDO:0005269 True carotid stenosis carotid artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001614 MONDO:0001082 True intra-abdominal lymph node mast cell malignancy lymph node cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001615 MONDO:0004768 True epidemic keratoconjunctivitis keratoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001616 MONDO:0002040 True lobomycosis dermatomycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001617 MONDO:0001152 True transient global amnesia amnestic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001602 MONDO:0001526 True labia minora carcinoma labia minora cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001603 MONDO:0001604 True paralytic lagophthalmos lagophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001604 MONDO:0003382 True lagophthalmos eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001606 MONDO:0003641 True central nervous system leukemia central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001606 MONDO:0005059 True central nervous system leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001607 MONDO:0001082 True intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001608 MONDO:0001535 True vagus nerve neoplasm vagus nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001609 MONDO:0003785 True agranulocytosis leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001610 MONDO:0004926 True acute dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001611 MONDO:0004926 True phlegmonous dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001612 MONDO:0005269 True carotid stenosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001614 MONDO:0001082 True intra-abdominal lymph node mast cell malignancy lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001615 MONDO:0004768 True epidemic keratoconjunctivitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001616 MONDO:0002040 True lobomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001617 MONDO:0001152 True transient global amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001620 MONDO:0019633 True louse-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001621 MONDO:0019633 True tick-borne relapsing fever relapsing fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001622 MONDO:0001604 True mechanical lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001623 MONDO:0001604 True cicatricial lagophthalmos lagophthalmos SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001624 MONDO:0005964 True acute sphenoidal sinusitis sphenoid sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001625 MONDO:0003282 True corpus luteum cyst ovarian cyst SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001626 MONDO:0005041 True traumatic glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001627 MONDO:0002039 True dementia cognitive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001628 MONDO:0004678 True tinea unguium dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001629 MONDO:0007179 True Jaccoud syndrome autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001630 MONDO:0006948 True branch retinal artery occlusion retinal artery occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001631 MONDO:0000473 True vertebral artery insufficiency arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001631 MONDO:0002254 True vertebral artery insufficiency syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001631 MONDO:0005264 True vertebral artery insufficiency transient ischemic attack SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001632 MONDO:0002277 True intracranial arteriosclerosis arteriosclerosis disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001633 MONDO:0006948 True central retinal artery occlusion retinal artery occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001634 MONDO:0000384 True bladder leiomyoma bladder benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001634 MONDO:0001572 True bladder leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001635 MONDO:0001825 True bladder squamous papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001636 MONDO:0001519 True mechanical entropion entropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001637 MONDO:0001519 True cicatricial entropion entropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001638 MONDO:0001639 True protein-deficiency anemia deficiency anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001639 MONDO:0002280 True deficiency anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001640 MONDO:0003937 True gonococcal spondylitis spondylitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001643 MONDO:0003425 True exophthalmic ophthalmoplegia ophthalmoplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001645 MONDO:0001644 True crescentic glomerulonephritis acute proliferative glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001646 MONDO:0001200 True benign secondary hypertension secondary hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001647 MONDO:0001105 True benign renovascular hypertension renal hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001647 MONDO:0001646 True benign renovascular hypertension benign secondary hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001648 MONDO:0002026 True esophageal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001649 MONDO:0001409 True fungal esophagitis esophagitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001649 MONDO:0002041 True fungal esophagitis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001650 MONDO:0006032 True acute cystitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001651 MONDO:0002650 True scrotum squamous cell carcinoma scrotal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001651 MONDO:0005096 True scrotum squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001652 MONDO:0003319 True scrotum melanoma scrotum neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001652 MONDO:0005105 True scrotum melanoma melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001653 MONDO:0002898 True prepuce cancer skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001654 MONDO:0005836 True spermatic cord cancer male reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001655 MONDO:0004843 True dissociated nystagmus pathologic nystagmus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001656 MONDO:0003749 True megaesophagus esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001657 MONDO:0002714 True brain cancer central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001657 MONDO:0021211 True brain cancer brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001658 MONDO:0005397 True nontoxic goiter goiter SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001660 MONDO:0005266 True proliferative diabetic retinopathy diabetic retinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001661 MONDO:0005266 True background diabetic retinopathy diabetic retinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001663 MONDO:0002175 True hole retinal cyst degeneration of macula and posterior pole SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001664 MONDO:0007886 True submucous uterine fibroid uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001624 MONDO:0005964 True acute sphenoidal sinusitis sphenoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001625 MONDO:0003282 True corpus luteum cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001626 MONDO:0005041 True traumatic glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001627 MONDO:0002039 True dementia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001628 MONDO:0004678 True tinea unguium dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001629 MONDO:0007179 True Jaccoud syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001630 MONDO:0006948 True branch retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001631 MONDO:0000473 True vertebral artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001631 MONDO:0002254 True vertebral artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001631 MONDO:0005264 True vertebral artery insufficiency transient ischemic attack UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001632 MONDO:0002277 True intracranial arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001633 MONDO:0006948 True central retinal artery occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001634 MONDO:0000384 True bladder leiomyoma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001634 MONDO:0001572 True bladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001635 MONDO:0001825 True bladder squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001636 MONDO:0001519 True mechanical entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001637 MONDO:0001519 True cicatricial entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001638 MONDO:0001639 True protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001639 MONDO:0002280 True deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001640 MONDO:0003937 True gonococcal spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001643 MONDO:0003425 True exophthalmic ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001645 MONDO:0001644 True crescentic glomerulonephritis acute proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001646 MONDO:0001200 True benign secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001647 MONDO:0001105 True benign renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001647 MONDO:0001646 True benign renovascular hypertension benign secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001648 MONDO:0002026 True esophageal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001649 MONDO:0001409 True fungal esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001649 MONDO:0002041 True fungal esophagitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001650 MONDO:0006032 True acute cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001651 MONDO:0002650 True scrotum squamous cell carcinoma scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001651 MONDO:0005096 True scrotum squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001652 MONDO:0003319 True scrotum melanoma scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001652 MONDO:0005105 True scrotum melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001653 MONDO:0002898 True prepuce cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001654 MONDO:0005836 True spermatic cord cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001655 MONDO:0004843 True dissociated nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001656 MONDO:0003749 True megaesophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001657 MONDO:0002714 True brain cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001657 MONDO:0021211 True brain cancer brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001658 MONDO:0005397 True nontoxic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001660 MONDO:0005266 True proliferative diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001661 MONDO:0005266 True background diabetic retinopathy diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001663 MONDO:0002175 True hole retinal cyst degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001664 MONDO:0007886 True submucous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001665 MONDO:0018077 True oculoglandular tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001666 MONDO:0019118 True retinal dystrophies primarily involving Bruch's membrane inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001668 MONDO:0001670 True internal pathological resorption of tooth tooth resorption SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001670 MONDO:0002220 True tooth resorption tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001671 MONDO:0005020 True mucocele of appendix intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001672 MONDO:0000376 True bronchus cancer respiratory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001673 MONDO:0004335 True diarrheal disease digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001674 MONDO:0003409 True diverticulitis of colon colonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001674 MONDO:0004235 True diverticulitis of colon diverticulitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001676 MONDO:0002520 True erythropoietic protoporphyria hepatic porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001676 MONDO:0019142 True erythropoietic protoporphyria inherited porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001678 MONDO:0005768 True intestinal tuberculosis gastrointestinal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001680 MONDO:0001704 True vaginal mullerian papilloma vaginal glandular neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001680 MONDO:0021078 True vaginal mullerian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001681 MONDO:0006032 True diphtheritic cystitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001682 MONDO:0004522 True diphtheritic peritonitis peritonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001683 MONDO:0002356 True pancreatic mucinous ductal ectasia pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001684 MONDO:0002356 True exocrine pancreatic insufficiency pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001685 MONDO:0002314 True chronic follicular conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001686 MONDO:0004744 True anatomical narrow angle borderline glaucoma borderline glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001687 MONDO:0005129 True diabetic cataract cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001666 MONDO:0019118 True retinal dystrophies primarily involving Bruch's membrane inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001668 MONDO:0001670 True internal pathological resorption of tooth tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001670 MONDO:0002220 True tooth resorption tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001671 MONDO:0005020 True mucocele of appendix intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001672 MONDO:0000376 True bronchus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001673 MONDO:0004335 True diarrheal disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001674 MONDO:0003409 True diverticulitis of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001674 MONDO:0004235 True diverticulitis of colon diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001676 MONDO:0002520 True erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001676 MONDO:0019142 True erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001678 MONDO:0005768 True intestinal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001680 MONDO:0001704 True vaginal mullerian papilloma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001680 MONDO:0021078 True vaginal mullerian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001681 MONDO:0006032 True diphtheritic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001682 MONDO:0004522 True diphtheritic peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001683 MONDO:0002356 True pancreatic mucinous ductal ectasia pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001684 MONDO:0002356 True exocrine pancreatic insufficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001685 MONDO:0002314 True chronic follicular conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001686 MONDO:0004744 True anatomical narrow angle borderline glaucoma borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001687 MONDO:0005129 True diabetic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001688 MONDO:0005885 True toxic optic neuropathy optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001689 MONDO:0001165 True hypertrophy of tongue papillae tongue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001690 MONDO:0002314 True parasitic conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001691 MONDO:0002352 True laryngeal cartilage cancer larynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001692 MONDO:0000596 True pedophilia paraphilic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001694 MONDO:0004902 True diffuse interstitial keratitis interstitial keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001695 MONDO:0002043 True senile ectropion ectropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001697 MONDO:0004681 True reading disorder learning disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001698 MONDO:0004678 True tinea profunda dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001689 MONDO:0001165 True hypertrophy of tongue papillae tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001690 MONDO:0002314 True parasitic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001691 MONDO:0002352 True laryngeal cartilage cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001692 MONDO:0000596 True pedophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001694 MONDO:0004902 True diffuse interstitial keratitis interstitial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001695 MONDO:0002043 True senile ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001697 MONDO:0004681 True reading disorder learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001698 MONDO:0004678 True tinea profunda dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001699 MONDO:0004678 True tinea manuum dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001700 MONDO:0002281 True megaloblastic anemia macrocytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001701 MONDO:0005119 True gastrointestinal anthrax anthrax infection SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001702 MONDO:0001403 True labia majora carcinoma labium majus cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001702 MONDO:0005215 True labia majora carcinoma vulvar carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001703 MONDO:0001941 True color vision disorder blindness (disorder) SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001704 MONDO:0021050 True vaginal glandular neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001704 MONDO:0024276 True vaginal glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001705 MONDO:0002280 True pure red-cell aplasia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001707 MONDO:0019338 True cardiac sarcoidosis sarcoidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001708 MONDO:0019338 True pulmonary sarcoidosis sarcoidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001709 MONDO:0019338 True hypercalcemic sarcoidosis sarcoidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001711 MONDO:0005560 True hepatic encephalopathy brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001713 MONDO:0015909 True inherited aplastic anemia aplastic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001715 MONDO:0003718 True basilar artery occlusion occlusion precerebral artery SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001716 MONDO:0000942 True corneal argyrosis corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001717 MONDO:0001308 True posterior corneal pigmentation corneal deposit SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001718 MONDO:0001269 True scleritis scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001719 MONDO:0002471 True gonococcal bursitis bursitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001720 MONDO:0002400 True gonococcal synovitis synovitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001721 MONDO:0004184 True urethral intrinsic sphincter deficiency urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001722 MONDO:0001723 True central pterygium progressive peripheral pterygium SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001723 MONDO:0001055 True progressive peripheral pterygium conjunctival pterygium SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001724 MONDO:0002352 True supraglottis cancer larynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001724 MONDO:0004427 True supraglottis cancer supraglottis neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001725 MONDO:0006672 True balanitis xerotica obliterans balanitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001727 MONDO:0007972 True active cochleovestibular Meniere disease Meniere disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001728 MONDO:0007972 True active vestibular Meniere disease Meniere disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001729 MONDO:0007972 True active cochlear Meniere disease Meniere disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001730 MONDO:0004184 True urethral syndrome urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001731 MONDO:0000647 True benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001732 MONDO:0006032 True trigonitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001734 MONDO:0000426 True tuberous sclerosis autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001734 MONDO:0015356 True tuberous sclerosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001735 MONDO:0002436 True paranasal sinus disorder nasal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001735 MONDO:0005087 True paranasal sinus disorder respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001736 MONDO:0006849 True neonatal infective mastitis mastitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001737 MONDO:0005526 True tetanus neonatorum tetanus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001739 MONDO:0002008 True purulent labyrinthitis labyrinthitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001740 MONDO:0002466 True cornea squamous cell carcinoma eye carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001740 MONDO:0003802 True cornea squamous cell carcinoma cornea cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001741 MONDO:0001223 True hyperparathyroidism parathyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001742 MONDO:0001868 True interval angle-closure glaucoma primary angle-closure glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001743 MONDO:0020669 True paranasal sinus lymphoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001744 MONDO:0005041 True angle-closure glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001745 MONDO:0007886 True subserous uterine fibroid uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001746 MONDO:0002135 True optic disk drusen optic nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001747 MONDO:0002183 True tibial collateral ligament bursitis enthesopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001748 MONDO:0000380 True maxillary sinus carcinoma paranasal sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001748 MONDO:0006850 True maxillary sinus carcinoma maxillary sinus neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001749 MONDO:0004847 True cortical senile cataract senile cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001751 MONDO:0002887 True cholestasis bile duct disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001752 MONDO:0004934 True alveolar periostitis periostitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001753 MONDO:0002654 True female infertility of uterine origin uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001756 MONDO:0000380 True frontal sinus cancer paranasal sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001756 MONDO:0001757 True frontal sinus cancer frontal sinus neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001757 MONDO:0005289 True frontal sinus neoplasm paranasal sinus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001758 MONDO:0000380 True paranasal sinus sarcoma paranasal sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001758 MONDO:0018078 True paranasal sinus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001760 MONDO:0003085 True photokeratitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001761 MONDO:0005775 True favism G6PD deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001762 MONDO:0002325 True dentine erosion tooth erosion, non-bacterial SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001763 MONDO:0000380 True ethmoid sinus cancer paranasal sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001763 MONDO:0001764 True ethmoid sinus cancer ethmoidal sinus neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001764 MONDO:0005289 True ethmoidal sinus neoplasm paranasal sinus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001765 MONDO:0001824 True polyneuropathy in collagen vascular disease polyneuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001766 MONDO:0001854 True eversion of lacrimal punctum lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001767 MONDO:0001854 True stenosis of lacrimal punctum lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001768 MONDO:0001854 True stenosis of lacrimal passage lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001770 MONDO:0001933 True gastrin secretion abnormality endocrine pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001771 MONDO:0002127 True infective urethral stricture urethral stricture SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001772 MONDO:0001593 True ulcer of anus and rectum rectal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001773 MONDO:0019956 True post-vaccinal encephalitis encephalitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001774 MONDO:0001718 True posterior scleritis scleritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001775 MONDO:0002688 True chronic duodenal ileus duodenal obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001776 MONDO:0003105 True prostate calculus prostate disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001776 MONDO:0004828 True prostate calculus lower urinary tract calculus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001777 MONDO:0001650 True acute gonococcal cystitis acute cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001778 MONDO:0002378 True dermoid cyst of skin dermoid cyst SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001778 MONDO:0002531 True dermoid cyst of skin skin neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001779 MONDO:0000647 True vaginal squamous papilloma benign vaginal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001779 MONDO:0001806 True vaginal squamous papilloma vaginal squamous tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001779 MONDO:0001825 True vaginal squamous papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001780 MONDO:0000595 True premature ejaculation sexual and gender identity disorders SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001781 MONDO:0004230 True uterine corpus adenomatoid tumor adenomatoid tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001781 MONDO:0021525 True uterine corpus adenomatoid tumor benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001782 MONDO:0005129 True mature cataract cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001783 MONDO:0021525 True endometrial stromal nodule benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001783 MONDO:0044335 True endometrial stromal nodule benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001784 MONDO:0001105 True malignant renovascular hypertension renal hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001784 MONDO:0001785 True malignant renovascular hypertension malignant secondary hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001785 MONDO:0001200 True malignant secondary hypertension secondary hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001786 MONDO:0002654 True uterine inflammatory disease uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001787 MONDO:0002405 True hepatic infarction hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001788 MONDO:0002405 True nutmeg liver hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001789 MONDO:0016755 True neurofibroma of spinal cord neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001789 MONDO:0021234 True neurofibroma of spinal cord spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001790 MONDO:0003844 True spinal cord lipoma central nervous system lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001790 MONDO:0021506 True spinal cord lipoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001792 MONDO:0001793 True epiphora due to insufficient drainage excessive tearing SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001793 MONDO:0001854 True excessive tearing lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001794 MONDO:0003472 True Pthirus pubis infestation lice infestation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001795 MONDO:0024666 True plantar wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001797 MONDO:0000314 True chancroid primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001798 MONDO:0006816 True hypermobility syndrome arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001799 MONDO:0001269 True localized anterior staphyloma scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001800 MONDO:0001269 True equatorial staphyloma scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001801 MONDO:0001269 True staphyloma posticum scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001803 MONDO:0003648 True myringitis bullosa hemorrhagica tympanic membrane disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001804 MONDO:0001718 True anterior scleritis scleritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001805 MONDO:0004379 True female breast central part cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001806 MONDO:0002532 True vaginal squamous tumor squamous cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001806 MONDO:0021050 True vaginal squamous tumor vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001808 MONDO:0002654 True chronic subinvolution of uterus uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001809 MONDO:0002654 True adhesions of uterus uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001810 MONDO:0003569 True hypoglossal nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001810 MONDO:0003620 True hypoglossal nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001811 MONDO:0005129 True tetanic cataract cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001812 MONDO:0004785 True parasitic eyelid infestation blepharitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001813 MONDO:0004785 True squamous blepharitis blepharitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001815 MONDO:0005395 True extrapyramidal and movement disease movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001816 MONDO:0001718 True scleroperikeratitis scleritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001817 MONDO:0001868 True acute closed-angle glaucoma primary angle-closure glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001818 MONDO:0002098 True facial neuralgia facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001820 MONDO:0002008 True focal labyrinthitis labyrinthitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001821 MONDO:0000947 True hypoactive sexual desire disorder psychosexual disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001822 MONDO:0002525 True hypolipoproteinemia inherited lipid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001823 MONDO:0000469 True sick sinus syndrome sinoatrial node disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001825 MONDO:0002363 True squamous papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001828 MONDO:0001703 True acquired color blindness color vision disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001830 MONDO:0003117 True somatization disorder somatoform disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001831 MONDO:0011284 True irregular astigmatism astigmatism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001832 MONDO:0001409 True bacterial esophagitis esophagitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001836 MONDO:0002263 True amenorrhea female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001837 MONDO:0001173 True acute gonococcal salpingitis acute salpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001841 MONDO:0007886 True uterine corpus epithelioid leiomyoma uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001842 MONDO:0007886 True uterine corpus dissecting leiomyoma uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001843 MONDO:0007886 True uterus interstitial leiomyoma uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001844 MONDO:0007886 True uterine corpus myxoid leiomyoma uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001845 MONDO:0007886 True uterine corpus lipoleiomyoma uterine corpus leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001846 MONDO:0003288 True uterine corpus bizarre leiomyoma bizarre leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001846 MONDO:0007886 True uterine corpus bizarre leiomyoma uterine corpus leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001847 MONDO:0004847 True nuclear senile cataract senile cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001849 MONDO:0004751 True chronic orbital inflammation disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001850 MONDO:0004379 True female breast lower-outer quadrant cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001851 MONDO:0001854 True primary lacrimal atrophy lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001852 MONDO:0000956 True small intestine lymphoma small intestine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001852 MONDO:0004699 True small intestine lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001853 MONDO:0002307 True contact blepharoconjunctivitis blepharoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001855 MONDO:0005283 True rubeosis iridis retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001856 MONDO:0000473 True splenic artery aneurysm arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001857 MONDO:0005683 True Brucella canis brucellosis brucellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001858 MONDO:0002254 True Tietze syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001859 MONDO:0019369 True algoneurodystrophy complex regional pain syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001860 MONDO:0006873 True folic acid deficiency anemia nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001861 MONDO:0006294 True malignant parietal pleura tumor pleural cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001862 MONDO:0006294 True malignant visceral pleura tumor pleural cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001863 MONDO:0005561 True aorta atresia aortic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001864 MONDO:0001868 True residual stage angle-closure glaucoma primary angle-closure glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001866 MONDO:0004985 True bipolar I disorder bipolar disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001868 MONDO:0001744 True primary angle-closure glaucoma angle-closure glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001870 MONDO:0002462 True acute poststreptococcal glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001871 MONDO:0003137 True acute diffuse glomerulonephritis diffuse glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001700 MONDO:0002281 True megaloblastic anemia macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001701 MONDO:0005119 True gastrointestinal anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001702 MONDO:0001403 True labia majora carcinoma labium majus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001702 MONDO:0005215 True labia majora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001703 MONDO:0001941 True color vision disorder blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001704 MONDO:0021050 True vaginal glandular neoplasm vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001704 MONDO:0024276 True vaginal glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001705 MONDO:0002280 True pure red-cell aplasia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001707 MONDO:0019338 True cardiac sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001708 MONDO:0019338 True pulmonary sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001709 MONDO:0019338 True hypercalcemic sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001711 MONDO:0005560 True hepatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001713 MONDO:0015909 True inherited aplastic anemia aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001715 MONDO:0003718 True basilar artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001716 MONDO:0000942 True corneal argyrosis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001717 MONDO:0001308 True posterior corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001718 MONDO:0001269 True scleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001719 MONDO:0002471 True gonococcal bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001720 MONDO:0002400 True gonococcal synovitis synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001721 MONDO:0004184 True urethral intrinsic sphincter deficiency urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001722 MONDO:0001723 True central pterygium progressive peripheral pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001723 MONDO:0001055 True progressive peripheral pterygium conjunctival pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001724 MONDO:0002352 True supraglottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001724 MONDO:0004427 True supraglottis cancer supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001725 MONDO:0006672 True balanitis xerotica obliterans balanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001727 MONDO:0007972 True active cochleovestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001728 MONDO:0007972 True active vestibular Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001729 MONDO:0007972 True active cochlear Meniere disease Meniere disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001730 MONDO:0004184 True urethral syndrome urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001731 MONDO:0000647 True benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001732 MONDO:0006032 True trigonitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001734 MONDO:0000426 True tuberous sclerosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001734 MONDO:0015356 True tuberous sclerosis hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001735 MONDO:0002436 True paranasal sinus disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001735 MONDO:0005087 True paranasal sinus disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001736 MONDO:0006849 True neonatal infective mastitis mastitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001737 MONDO:0005526 True tetanus neonatorum tetanus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001739 MONDO:0002008 True purulent labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001740 MONDO:0002466 True cornea squamous cell carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001740 MONDO:0003802 True cornea squamous cell carcinoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001741 MONDO:0001223 True hyperparathyroidism parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001742 MONDO:0001868 True interval angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001743 MONDO:0020669 True paranasal sinus lymphoma paranasal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001744 MONDO:0005041 True angle-closure glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001745 MONDO:0007886 True subserous uterine fibroid uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001746 MONDO:0002135 True optic disk drusen optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001747 MONDO:0002183 True tibial collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001748 MONDO:0000380 True maxillary sinus carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001748 MONDO:0006850 True maxillary sinus carcinoma maxillary sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001749 MONDO:0004847 True cortical senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001751 MONDO:0002887 True cholestasis bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001752 MONDO:0004934 True alveolar periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001753 MONDO:0002654 True female infertility of uterine origin uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001756 MONDO:0000380 True frontal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001756 MONDO:0001757 True frontal sinus cancer frontal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001757 MONDO:0005289 True frontal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001758 MONDO:0000380 True paranasal sinus sarcoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001758 MONDO:0018078 True paranasal sinus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001760 MONDO:0003085 True photokeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001761 MONDO:0005775 True favism G6PD deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001762 MONDO:0002325 True dentine erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001763 MONDO:0000380 True ethmoid sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001763 MONDO:0001764 True ethmoid sinus cancer ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001764 MONDO:0005289 True ethmoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001765 MONDO:0001824 True polyneuropathy in collagen vascular disease polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001766 MONDO:0001854 True eversion of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001767 MONDO:0001854 True stenosis of lacrimal punctum lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001768 MONDO:0001854 True stenosis of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001770 MONDO:0001933 True gastrin secretion abnormality endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001771 MONDO:0002127 True infective urethral stricture urethral stricture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001772 MONDO:0001593 True ulcer of anus and rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001773 MONDO:0019956 True post-vaccinal encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001774 MONDO:0001718 True posterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001775 MONDO:0002688 True chronic duodenal ileus duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001776 MONDO:0003105 True prostate calculus prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001776 MONDO:0004828 True prostate calculus lower urinary tract calculus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001777 MONDO:0001650 True acute gonococcal cystitis acute cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001778 MONDO:0002378 True dermoid cyst of skin dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001778 MONDO:0002531 True dermoid cyst of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001779 MONDO:0000647 True vaginal squamous papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001779 MONDO:0001806 True vaginal squamous papilloma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001779 MONDO:0001825 True vaginal squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001780 MONDO:0000595 True premature ejaculation sexual and gender identity disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001781 MONDO:0004230 True uterine corpus adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001781 MONDO:0021525 True uterine corpus adenomatoid tumor benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001782 MONDO:0005129 True mature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001783 MONDO:0021525 True endometrial stromal nodule benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001783 MONDO:0044335 True endometrial stromal nodule benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001784 MONDO:0001105 True malignant renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001784 MONDO:0001785 True malignant renovascular hypertension malignant secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001785 MONDO:0001200 True malignant secondary hypertension secondary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001786 MONDO:0002654 True uterine inflammatory disease uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001787 MONDO:0002405 True hepatic infarction hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001788 MONDO:0002405 True nutmeg liver hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001789 MONDO:0016755 True neurofibroma of spinal cord neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001789 MONDO:0021234 True neurofibroma of spinal cord spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001790 MONDO:0003844 True spinal cord lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001790 MONDO:0021506 True spinal cord lipoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001792 MONDO:0001793 True epiphora due to insufficient drainage excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001793 MONDO:0001854 True excessive tearing lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001794 MONDO:0003472 True Pthirus pubis infestation lice infestation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001795 MONDO:0024666 True plantar wart benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001797 MONDO:0000314 True chancroid primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001798 MONDO:0006816 True hypermobility syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001799 MONDO:0001269 True localized anterior staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001800 MONDO:0001269 True equatorial staphyloma scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001801 MONDO:0001269 True staphyloma posticum scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001803 MONDO:0003648 True myringitis bullosa hemorrhagica tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001804 MONDO:0001718 True anterior scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001805 MONDO:0004379 True female breast central part cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001806 MONDO:0002532 True vaginal squamous tumor squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001806 MONDO:0021050 True vaginal squamous tumor vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001808 MONDO:0002654 True chronic subinvolution of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001809 MONDO:0002654 True adhesions of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001810 MONDO:0003569 True hypoglossal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001810 MONDO:0003620 True hypoglossal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001811 MONDO:0005129 True tetanic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001812 MONDO:0004785 True parasitic eyelid infestation blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001813 MONDO:0004785 True squamous blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001815 MONDO:0005395 True extrapyramidal and movement disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001816 MONDO:0001718 True scleroperikeratitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001817 MONDO:0001868 True acute closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001818 MONDO:0002098 True facial neuralgia facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001820 MONDO:0002008 True focal labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001821 MONDO:0000947 True hypoactive sexual desire disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001822 MONDO:0002525 True hypolipoproteinemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001823 MONDO:0000469 True sick sinus syndrome sinoatrial node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001825 MONDO:0002363 True squamous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001828 MONDO:0001703 True acquired color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001830 MONDO:0003117 True somatization disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001831 MONDO:0011284 True irregular astigmatism astigmatism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001832 MONDO:0001409 True bacterial esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001836 MONDO:0002263 True amenorrhea female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001837 MONDO:0001173 True acute gonococcal salpingitis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001841 MONDO:0007886 True uterine corpus epithelioid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001842 MONDO:0007886 True uterine corpus dissecting leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001843 MONDO:0007886 True uterus interstitial leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001844 MONDO:0007886 True uterine corpus myxoid leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001845 MONDO:0007886 True uterine corpus lipoleiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001846 MONDO:0003288 True uterine corpus bizarre leiomyoma bizarre leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001846 MONDO:0007886 True uterine corpus bizarre leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001847 MONDO:0004847 True nuclear senile cataract senile cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001849 MONDO:0004751 True chronic orbital inflammation disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001850 MONDO:0004379 True female breast lower-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001851 MONDO:0001854 True primary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001852 MONDO:0000956 True small intestine lymphoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001852 MONDO:0004699 True small intestine lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001853 MONDO:0002307 True contact blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001855 MONDO:0005283 True rubeosis iridis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001856 MONDO:0000473 True splenic artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001857 MONDO:0005683 True Brucella canis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001858 MONDO:0002254 True Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001859 MONDO:0019369 True algoneurodystrophy complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001860 MONDO:0006873 True folic acid deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001861 MONDO:0006294 True malignant parietal pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001862 MONDO:0006294 True malignant visceral pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001863 MONDO:0005561 True aorta atresia aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001864 MONDO:0001868 True residual stage angle-closure glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001866 MONDO:0004985 True bipolar I disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001868 MONDO:0001744 True primary angle-closure glaucoma angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001870 MONDO:0002462 True acute poststreptococcal glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001871 MONDO:0003137 True acute diffuse glomerulonephritis diffuse glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001873 MONDO:0002098 True geniculate ganglionitis facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001874 MONDO:0002008 True toxic labyrinthitis labyrinthitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001875 MONDO:0002614 True epicondylitis bone inflammation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001876 MONDO:0002286 True renal artery atheroma renal artery disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001877 MONDO:0005372 True infertility due to extratesticular cause male infertility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001879 MONDO:0003046 True anus cancer anus neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001880 MONDO:0006771 True median rhomboid glossitis glossitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001881 MONDO:0000315 True toxic shock syndrome commensal bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001882 MONDO:0002118 True bacteriuria urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001883 MONDO:0005568 True blue toe syndrome cholesterol embolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001884 MONDO:0002633 True abducens nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001884 MONDO:0020594 True abducens nerve neoplasm abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001874 MONDO:0002008 True toxic labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001875 MONDO:0002614 True epicondylitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001876 MONDO:0002286 True renal artery atheroma renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001877 MONDO:0005372 True infertility due to extratesticular cause male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001879 MONDO:0003046 True anus cancer anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001880 MONDO:0006771 True median rhomboid glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001881 MONDO:0000315 True toxic shock syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001882 MONDO:0002118 True bacteriuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001883 MONDO:0005568 True blue toe syndrome cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001884 MONDO:0002633 True abducens nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001884 MONDO:0020594 True abducens nerve neoplasm abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001885 MONDO:0001592 True lateral cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001886 MONDO:0001592 True midline cystocele prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001887 MONDO:0002263 True Allen-Masters syndrome female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001888 MONDO:0001879 True anus lymphoma anus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001889 MONDO:0005558 True ovarian dysfunction ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001890 MONDO:0002325 True pulp erosion tooth erosion, non-bacterial SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001892 MONDO:0002571 True spinal cord lymphoma primary central nervous system lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001892 MONDO:0003544 True spinal cord lymphoma spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001893 MONDO:0003544 True spinal cord melanoma spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001893 MONDO:0016747 True spinal cord melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001894 MONDO:0002217 True spinal cord sarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001894 MONDO:0003544 True spinal cord sarcoma spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001896 MONDO:0001150 True obstructive hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001897 MONDO:0002467 True bilateral hyperactive labyrinth inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001898 MONDO:0002661 True optic choroid disorder uveal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001899 MONDO:0005009 True rheumatic congestive heart failure congestive heart failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001903 MONDO:0004857 True calcific tendinitis tendinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001905 MONDO:0004855 True bicipital tenosynovitis tenosynovitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001907 MONDO:0016367 True adult dermatomyositis dermatomyositis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001909 MONDO:0006510 True renal tubular acidosis renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001910 MONDO:0003900 True ochronosis disorder connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001911 MONDO:0002567 True tracheal calcification tracheal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001912 MONDO:0001121 True acute frontal sinusitis frontal sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001913 MONDO:0005372 True oligospermia male infertility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001915 MONDO:0004751 True orbital cyst disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001887 MONDO:0002263 True Allen-Masters syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001888 MONDO:0001879 True anus lymphoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001889 MONDO:0005558 True ovarian dysfunction ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001890 MONDO:0002325 True pulp erosion tooth erosion, non-bacterial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001892 MONDO:0002571 True spinal cord lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001892 MONDO:0003544 True spinal cord lymphoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001893 MONDO:0003544 True spinal cord melanoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001893 MONDO:0016747 True spinal cord melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001894 MONDO:0002217 True spinal cord sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001894 MONDO:0003544 True spinal cord sarcoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001896 MONDO:0001150 True obstructive hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001897 MONDO:0002467 True bilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001898 MONDO:0002661 True optic choroid disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001899 MONDO:0005009 True rheumatic congestive heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001903 MONDO:0004857 True calcific tendinitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001905 MONDO:0004855 True bicipital tenosynovitis tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001907 MONDO:0016367 True adult dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001909 MONDO:0006510 True renal tubular acidosis renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001910 MONDO:0003900 True ochronosis disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001911 MONDO:0002567 True tracheal calcification tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001912 MONDO:0001121 True acute frontal sinusitis frontal sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001913 MONDO:0005372 True oligospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001915 MONDO:0004751 True orbital cyst disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001916 MONDO:0018077 True gastrointestinal tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001917 MONDO:0002246 True chronic perichondritis of pinna perichondritis of auricle SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001918 MONDO:0001793 True epiphora due to excess lacrimation excessive tearing SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001919 MONDO:0002175 True cystoid macular retinal degeneration degeneration of macula and posterior pole SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001920 MONDO:0005975 True chronic purulent otitis media suppurative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001921 MONDO:0001920 True chronic atticoantral disease chronic purulent otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001922 MONDO:0001926 True pyoureter ureteral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001917 MONDO:0002246 True chronic perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001918 MONDO:0001793 True epiphora due to excess lacrimation excessive tearing UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001919 MONDO:0002175 True cystoid macular retinal degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001920 MONDO:0005975 True chronic purulent otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001921 MONDO:0001920 True chronic atticoantral disease chronic purulent otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001922 MONDO:0001926 True pyoureter ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001923 MONDO:0019118 True vitreoretinal dystrophy inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001924 MONDO:0019118 True dystrophies primarily involving the retinal pigment epithelium inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001925 MONDO:0019118 True retinal dystrophy in systemic or cerebroretinal lipidoses inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001926 MONDO:0002118 True ureteral disorder urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001927 MONDO:0003628 True pulmonary valve insufficiency pulmonary valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001928 MONDO:0004789 True suppurative cholangitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001929 MONDO:0004789 True ascending cholangitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001930 MONDO:0004789 True acute cholangitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001931 MONDO:0004789 True pericholangitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001933 MONDO:0002356 True endocrine pancreas disorder pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001935 MONDO:0006816 True neurogenic arthropathy arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001936 MONDO:0001804 True brawny scleritis anterior scleritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001938 MONDO:0002187 True vulvar dystrophy vulvar disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001939 MONDO:0003110 True skin epithelioid hemangioma skin hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001939 MONDO:0021169 True skin epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001940 MONDO:0005249 True pleuropneumonia pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001942 MONDO:0005618 True generalized anxiety disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001943 MONDO:0005136 True Plasmodium malariae malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001944 MONDO:0005136 True mixed malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001945 MONDO:0006966 True postencephalitic Parkinson disease secondary Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001947 MONDO:0004126 True suppurative thyroiditis thyroiditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001949 MONDO:0004126 True acute thyroiditis thyroiditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001950 MONDO:0000942 True corneal ectasia corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001951 MONDO:0004525 True Norwegian scabies scabies SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001952 MONDO:0002731 True parietal lobe cancer cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001953 MONDO:0002118 True pyuria urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001954 MONDO:0002800 True thrombophlebitis migrans thrombophlebitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001955 MONDO:0001517 True protozoal dysentery dysentery SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001956 MONDO:0001574 True capillary leak syndrome capillary disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001959 MONDO:0002467 True labyrinthine bilateral reactive loss inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001962 MONDO:0001933 True abnormality of glucagon secretion endocrine pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001964 MONDO:0005975 True chronic tubotympanic suppurative otitis media suppurative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001965 MONDO:0004903 True sclerosing keratitis deep keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001966 MONDO:0001868 True chronic closed-angle glaucoma primary angle-closure glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001971 MONDO:0017853 True farmer's lung disease hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001972 MONDO:0005683 True Brucella melitensis brucellosis brucellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001973 MONDO:0005683 True Brucella abortus brucellosis brucellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001974 MONDO:0006500 True hemangioma of orbit hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001975 MONDO:0003155 True cavernous hemangioma of orbit cavernous hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001976 MONDO:0001595 True chorea gravidarum choreatic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001977 MONDO:0005062 True ureteral lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001977 MONDO:0008627 True ureteral lymphoma ureter cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001978 MONDO:0006481 True regional ureteric cancer ureter carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001979 MONDO:0004566 True dumping syndrome postgastrectomy syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001982 MONDO:0019255 True Niemann-Pick disease sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001983 MONDO:0001515 True peripheral degeneration of cornea corneal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001984 MONDO:0002026 True candidal paronychia candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001985 MONDO:0006948 True partial arterial retinal occlusion retinal artery occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001986 MONDO:0001303 True Argyll Robertson pupil abnormal pupillary function SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001988 MONDO:0001670 True external pathological resorption tooth resorption SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001989 MONDO:0006771 True atrophic glossitis glossitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0001990 MONDO:0003354 True malignant cardiac peripheral nerve sheath neoplasm heart sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001990 MONDO:0017827 True malignant cardiac peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001991 MONDO:0001340 True malignant cardiac germ cell tumor heart cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001991 MONDO:0003113 True malignant cardiac germ cell tumor extragonadal germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001991 MONDO:0020589 True malignant cardiac germ cell tumor cardiac germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001992 MONDO:0003562 True rete testis adenocarcinoma rete testis neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001992 MONDO:0004970 True rete testis adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001993 MONDO:0002790 True seminal vesicle adenocarcinoma seminal vesicle tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001993 MONDO:0004970 True seminal vesicle adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001994 MONDO:0000380 True sphenoidal sinus cancer paranasal sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001994 MONDO:0004047 True sphenoidal sinus cancer sphenoidal sinus neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoidal sinus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001995 MONDO:0044705 True sphenoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001996 MONDO:0004744 True steroid-induced glaucoma - borderline borderline glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001997 MONDO:0001670 True root resorption tooth resorption SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001998 MONDO:0002003 True Foster-Kennedy syndrome papilledema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001999 MONDO:0001493 True primary pulmonary hypertension chronic pulmonary heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002000 MONDO:0006670 True anaerobic meningitis bacterial meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002002 MONDO:0005420 True postsurgical hypothyroidism hypothyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002003 MONDO:0002135 True papilledema optic nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002004 MONDO:0005240 True atheroembolism of kidney kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002004 MONDO:0005568 True atheroembolism of kidney cholesterol embolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002006 MONDO:0002008 True serous labyrinthitis labyrinthitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002008 MONDO:0002467 True labyrinthitis inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002009 MONDO:0002050 True major depressive disorder depressive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002010 MONDO:0002254 True FG syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002010 MONDO:0003847 True FG syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002012 MONDO:0000688 True methylmalonic acidemia inborn organic aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002013 MONDO:0000629 True lymphangioma cardiovascular organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002013 MONDO:0036870 True lymphangioma lymphatic vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002014 MONDO:0006025 True autosomal recessive Ehlers-Danlos syndrome, vascular type autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002016 MONDO:0000412 True benign familial neonatal epilepsy neonatal period electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002017 MONDO:0005559 True olivopontocerebellar atrophy neurodegenerative disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002021 MONDO:0002635 True gingival disorder periodontal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002026 MONDO:0002312 True candidiasis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002027 MONDO:0002028 True avoidant personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002028 MONDO:0002025 True personality disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002029 MONDO:0002030 True chronic gonorrhea of cervix chronic cervicitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002030 MONDO:0002345 True chronic cervicitis cervicitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002032 MONDO:0021063 True colon carcinoma malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002032 MONDO:0024331 True colon carcinoma colorectal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002033 MONDO:0005694 True cecum cancer cecal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002033 MONDO:0021063 True cecum cancer malignant colon neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002034 MONDO:0002033 True cecum lymphoma cecum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002034 MONDO:0002035 True cecum lymphoma colon lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002035 MONDO:0021063 True colon lymphoma malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002035 MONDO:0024656 True colon lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002036 MONDO:0003150 True penile disorder male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002037 MONDO:0000270 True pleural disorder lower respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002038 MONDO:0004993 True head and neck carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002038 MONDO:0005627 True head and neck carcinoma head and neck cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002039 MONDO:0002025 True cognitive disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002040 MONDO:0000254 True dermatomycosis cutaneous mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002041 MONDO:0005550 True fungal infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002042 MONDO:0002043 True mechanical ectropion ectropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002043 MONDO:0003382 True ectropion eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002044 MONDO:0002043 True spastic ectropion ectropion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002045 MONDO:0001150 True communicating hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002046 MONDO:0002491 True alcohol abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002047 MONDO:0005100 True pulmonary systemic sclerosis systemic sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002047 MONDO:0005275 True pulmonary systemic sclerosis lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002048 MONDO:0002049 True thrombocytopenia due to immune destruction thrombocytopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002050 MONDO:0005371 True depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002052 MONDO:0004928 True lymphadenitis lymph node disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002055 MONDO:0000620 True benign eccrine breast spiradenoma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002055 MONDO:0003448 True benign eccrine breast spiradenoma benign spiradenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002056 MONDO:0000620 True breast fibroadenoma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002056 MONDO:0021046 True breast fibroadenoma breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002057 MONDO:0000620 True breast leiomyoma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002057 MONDO:0001572 True breast leiomyoma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002058 MONDO:0000620 True breast adenoma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002058 MONDO:0004972 True breast adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002058 MONDO:0036976 True breast adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002060 MONDO:0002363 True intraductal papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002061 MONDO:0002488 True intraductal papillary breast neoplasm intraductal breast neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002062 MONDO:0000620 True breast myofibroblastoma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002062 MONDO:0040675 True breast myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002064 MONDO:0001574 True breast angiomatosis capillary disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002064 MONDO:0002657 True breast angiomatosis breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002065 MONDO:0000620 True benign breast adenomyoepithelioma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002065 MONDO:0002066 True benign breast adenomyoepithelioma breast adenomyoepithelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002066 MONDO:0002483 True breast adenomyoepithelioma breast myoepithelial tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002067 MONDO:0004379 True female breast upper-inner quadrant cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002068 MONDO:0004379 True female breast lower-inner quadrant cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002069 MONDO:0004379 True female breast axillary tail cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002070 MONDO:0002078 True ventricular septal defect heart septal defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002071 MONDO:0001657 True supratentorial cancer brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002073 MONDO:0003000 True malignant pineal area germ cell neoplasm central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002073 MONDO:0003113 True malignant pineal area germ cell neoplasm extragonadal germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002073 MONDO:0003249 True malignant pineal area germ cell neoplasm pineal gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002074 MONDO:0006816 True Behcet syndrome arthropathy arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002075 MONDO:0002076 True spontaneous tension pneumothorax pneumothorax SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002076 MONDO:0002037 True pneumothorax pleural disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002077 MONDO:0005918 True low implantation of placenta placenta praevia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002078 MONDO:0005453 True heart septal defect congenital heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002082 MONDO:0005070 True endocrine gland neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002082 MONDO:0005151 True endocrine gland neoplasm endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002085 MONDO:0005395 True benign shuddering attacks movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002086 MONDO:0002093 True clear cell acanthoma acanthoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002087 MONDO:0004992 True peritoneum cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002087 MONDO:0006901 True peritoneum cancer peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002088 MONDO:0006951 True partial retinal vein occlusion retinal vein occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002089 MONDO:0002311 True retinal vascular occlusion retinal vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002090 MONDO:0002381 True eccrine sweat gland neoplasm sweat gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002092 MONDO:0001572 True small intestine leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002092 MONDO:0021501 True small intestine leiomyoma benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002093 MONDO:0024666 True acanthoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002095 MONDO:0002100 True vascular cancer cardiovascular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002095 MONDO:0021080 True vascular cancer blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002096 MONDO:0003454 True malignant conjunctival melanoma conjunctival cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002096 MONDO:0006325 True malignant conjunctival melanoma ocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002098 MONDO:0003569 True facial nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002098 MONDO:0003620 True facial nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002099 MONDO:0018312 True Histoplasma capsulatum infectious disease histoplasmosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002100 MONDO:0004992 True cardiovascular cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002100 MONDO:0024757 True cardiovascular cancer cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002101 MONDO:0002098 True facial nerve neoplasm facial nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002101 MONDO:0002633 True facial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002102 MONDO:0004748 True cheilitis lip disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002103 MONDO:0002025 True factitious disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002104 MONDO:0003117 True conversion disorder somatoform disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002105 MONDO:0001273 True toxic megacolon megacolon SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002106 MONDO:0002467 True labyrinthine unilateral reactive loss inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002107 MONDO:0002467 True unilateral hyperactive labyrinth inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002108 MONDO:0015074 True thyroid cancer thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002108 MONDO:0021069 True thyroid cancer malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002109 MONDO:0017611 True pituitary cancer pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002109 MONDO:0021069 True pituitary cancer malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002110 MONDO:0000383 True adrenal rest tumor benign reproductive system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002112 MONDO:0000650 True benign peritoneal mesothelioma peritoneal benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002112 MONDO:0006362 True benign peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002113 MONDO:0002087 True peritoneal carcinoma peritoneum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002113 MONDO:0004993 True peritoneal carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002114 MONDO:0004699 True pancreas lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002114 MONDO:0009831 True pancreas lymphoma malignant pancreatic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002116 MONDO:0009831 True malignant exocrine pancreas neoplasm malignant pancreatic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002116 MONDO:0021076 True malignant exocrine pancreas neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002117 MONDO:0009831 True pancreas sarcoma malignant pancreatic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002117 MONDO:0018078 True pancreas sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002119 MONDO:0000631 True ossifying fibroma bone benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002120 MONDO:0004993 True neuroendocrine carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002120 MONDO:0019496 True neuroendocrine carcinoma neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002120 MONDO:0021069 True neuroendocrine carcinoma malignant endocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002121 MONDO:0001397 True mononeuritis simplex mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002122 MONDO:0005244 True neuritis peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002123 MONDO:0005557 True calcinosis calcium metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002124 MONDO:0001854 True secondary lacrimal atrophy lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002125 MONDO:0005027 True status epilepticus epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002127 MONDO:0001556 True urethral stricture urethral obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002128 MONDO:0003607 True mononeuritis multiplex neuritis of upper limb SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002129 MONDO:0000637 True bone cancer musculoskeletal system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002129 MONDO:0019060 True bone cancer bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002130 MONDO:0002121 True upper limb mononeuronitis mononeuritis simplex SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002130 MONDO:0003607 True upper limb mononeuronitis neuritis of upper limb SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002132 MONDO:0002129 True skull cancer bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002134 MONDO:0005039 True physiological sexual disorder reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002135 MONDO:0003569 True optic nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002136 MONDO:0002137 True eczematous dermatitis of eyelid noninfectious dermatoses of eyelid SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002137 MONDO:0004785 True noninfectious dermatoses of eyelid blepharitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002138 MONDO:0002137 True allergic contact dermatitis of eyelid noninfectious dermatoses of eyelid SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002139 MONDO:0003409 True sigmoid disease colonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002140 MONDO:0001402 True vagina sarcoma vaginal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002140 MONDO:0018078 True vagina sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002141 MONDO:0002142 True cutaneous undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002141 MONDO:0006414 True cutaneous undifferentiated pleomorphic sarcoma skin sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002142 MONDO:0018078 True undifferentiated pleomorphic sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002142 MONDO:0021054 True undifferentiated pleomorphic sarcoma bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002143 MONDO:0005744 True vaginal yolk sac tumor yolk sac tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002145 MONDO:0002259 True disorder of sexual differentiation gonadal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002145 MONDO:0019755 True disorder of sexual differentiation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002146 MONDO:0002259 True hypogonadism gonadal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002149 MONDO:0004992 True reproductive system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002149 MONDO:0006054 True reproductive system cancer reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002152 MONDO:0003432 True intermittent squint strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002153 MONDO:0004907 True telogen effluvium alopecia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002154 MONDO:0002428 True trichomoniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002155 MONDO:0004789 True cholecystitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002156 MONDO:0002263 True fallopian tube disorder female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002158 MONDO:0001416 True fallopian tube cancer female reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002158 MONDO:0021092 True fallopian tube cancer fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002159 MONDO:0002158 True fallopian tube leiomyosarcoma fallopian tube cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002159 MONDO:0005058 True fallopian tube leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002162 MONDO:0002158 True fallopian tube adenosarcoma fallopian tube cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002162 MONDO:0005636 True fallopian tube adenosarcoma adenosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002163 MONDO:0005106 True thymus lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002164 MONDO:0004674 True focal chorioretinitis chorioretinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002165 MONDO:0005335 True rectal neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002166 MONDO:0006519 True rectum lymphoma rectal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002166 MONDO:0024656 True rectum lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002167 MONDO:0006519 True rectum malignant melanoma rectal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002167 MONDO:0045070 True rectum malignant melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002168 MONDO:0005089 True rectum sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002168 MONDO:0006519 True rectum sarcoma rectal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002169 MONDO:0005008 True rectum adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002169 MONDO:0044937 True rectum adenocarcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002170 MONDO:0002172 True chronic eustachian salpingitis otosalpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002171 MONDO:0005070 True giant cell tumor neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001925 MONDO:0019118 True retinal dystrophy in systemic or cerebroretinal lipidoses inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001926 MONDO:0002118 True ureteral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001927 MONDO:0003628 True pulmonary valve insufficiency pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001928 MONDO:0004789 True suppurative cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001929 MONDO:0004789 True ascending cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001930 MONDO:0004789 True acute cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001931 MONDO:0004789 True pericholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001933 MONDO:0002356 True endocrine pancreas disorder pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001935 MONDO:0006816 True neurogenic arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001936 MONDO:0001804 True brawny scleritis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001938 MONDO:0002187 True vulvar dystrophy vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001939 MONDO:0003110 True skin epithelioid hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001939 MONDO:0021169 True skin epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001940 MONDO:0005249 True pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001942 MONDO:0005618 True generalized anxiety disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001943 MONDO:0005136 True Plasmodium malariae malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001944 MONDO:0005136 True mixed malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001945 MONDO:0006966 True postencephalitic Parkinson disease secondary Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001947 MONDO:0004126 True suppurative thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001949 MONDO:0004126 True acute thyroiditis thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001950 MONDO:0000942 True corneal ectasia corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001951 MONDO:0004525 True Norwegian scabies scabies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001952 MONDO:0002731 True parietal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001953 MONDO:0002118 True pyuria urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001954 MONDO:0002800 True thrombophlebitis migrans thrombophlebitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001955 MONDO:0001517 True protozoal dysentery dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001956 MONDO:0001574 True capillary leak syndrome capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001959 MONDO:0002467 True labyrinthine bilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001962 MONDO:0001933 True abnormality of glucagon secretion endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001964 MONDO:0005975 True chronic tubotympanic suppurative otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001965 MONDO:0004903 True sclerosing keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001966 MONDO:0001868 True chronic closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001971 MONDO:0017853 True farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001972 MONDO:0005683 True Brucella melitensis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001973 MONDO:0005683 True Brucella abortus brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001974 MONDO:0006500 True hemangioma of orbit hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001975 MONDO:0003155 True cavernous hemangioma of orbit cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001976 MONDO:0001595 True chorea gravidarum choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001977 MONDO:0005062 True ureteral lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001977 MONDO:0008627 True ureteral lymphoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001978 MONDO:0006481 True regional ureteric cancer ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001979 MONDO:0004566 True dumping syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001982 MONDO:0019255 True Niemann-Pick disease sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001983 MONDO:0001515 True peripheral degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001984 MONDO:0002026 True candidal paronychia candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001985 MONDO:0006948 True partial arterial retinal occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001986 MONDO:0001303 True Argyll Robertson pupil abnormal pupillary function UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001988 MONDO:0001670 True external pathological resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001989 MONDO:0006771 True atrophic glossitis glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001990 MONDO:0003354 True malignant cardiac peripheral nerve sheath neoplasm heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001990 MONDO:0017827 True malignant cardiac peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001991 MONDO:0001340 True malignant cardiac germ cell tumor heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001991 MONDO:0003113 True malignant cardiac germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001991 MONDO:0020589 True malignant cardiac germ cell tumor cardiac germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001992 MONDO:0003562 True rete testis adenocarcinoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001992 MONDO:0004970 True rete testis adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001993 MONDO:0002790 True seminal vesicle adenocarcinoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001993 MONDO:0004970 True seminal vesicle adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001994 MONDO:0000380 True sphenoidal sinus cancer paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001994 MONDO:0004047 True sphenoidal sinus cancer sphenoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoidal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001995 MONDO:0044705 True sphenoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001996 MONDO:0004744 True steroid-induced glaucoma - borderline borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001997 MONDO:0001670 True root resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001998 MONDO:0002003 True Foster-Kennedy syndrome papilledema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001999 MONDO:0001493 True primary pulmonary hypertension chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002000 MONDO:0006670 True anaerobic meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002002 MONDO:0005420 True postsurgical hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002003 MONDO:0002135 True papilledema optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002004 MONDO:0005240 True atheroembolism of kidney kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002004 MONDO:0005568 True atheroembolism of kidney cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002006 MONDO:0002008 True serous labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002008 MONDO:0002467 True labyrinthitis inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002009 MONDO:0002050 True major depressive disorder depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002010 MONDO:0002254 True FG syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002010 MONDO:0003847 True FG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002012 MONDO:0000688 True methylmalonic acidemia inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002013 MONDO:0000629 True lymphangioma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002013 MONDO:0036870 True lymphangioma lymphatic vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002014 MONDO:0006025 True autosomal recessive Ehlers-Danlos syndrome, vascular type autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002016 MONDO:0000412 True benign familial neonatal epilepsy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002017 MONDO:0005559 True olivopontocerebellar atrophy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002021 MONDO:0002635 True gingival disorder periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002026 MONDO:0002312 True candidiasis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002027 MONDO:0002028 True avoidant personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002028 MONDO:0002025 True personality disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002029 MONDO:0002030 True chronic gonorrhea of cervix chronic cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002030 MONDO:0002345 True chronic cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002032 MONDO:0021063 True colon carcinoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002032 MONDO:0024331 True colon carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002033 MONDO:0005694 True cecum cancer cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002033 MONDO:0021063 True cecum cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002034 MONDO:0002033 True cecum lymphoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002034 MONDO:0002035 True cecum lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002035 MONDO:0021063 True colon lymphoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002035 MONDO:0024656 True colon lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002036 MONDO:0003150 True penile disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002037 MONDO:0000270 True pleural disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002038 MONDO:0004993 True head and neck carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002038 MONDO:0005627 True head and neck carcinoma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002039 MONDO:0002025 True cognitive disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002040 MONDO:0000254 True dermatomycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002041 MONDO:0005550 True fungal infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002042 MONDO:0002043 True mechanical ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002043 MONDO:0003382 True ectropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002044 MONDO:0002043 True spastic ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002045 MONDO:0001150 True communicating hydrocephalus hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002046 MONDO:0002491 True alcohol abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002047 MONDO:0005100 True pulmonary systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002047 MONDO:0005275 True pulmonary systemic sclerosis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002048 MONDO:0002049 True thrombocytopenia due to immune destruction thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002050 MONDO:0005371 True depressive disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002052 MONDO:0004928 True lymphadenitis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002055 MONDO:0000620 True benign eccrine breast spiradenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002055 MONDO:0003448 True benign eccrine breast spiradenoma benign spiradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002056 MONDO:0000620 True breast fibroadenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002056 MONDO:0021046 True breast fibroadenoma breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002057 MONDO:0000620 True breast leiomyoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002057 MONDO:0001572 True breast leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002058 MONDO:0000620 True breast adenoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002058 MONDO:0004972 True breast adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002058 MONDO:0036976 True breast adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002060 MONDO:0002363 True intraductal papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002061 MONDO:0002488 True intraductal papillary breast neoplasm intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002062 MONDO:0000620 True breast myofibroblastoma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002062 MONDO:0040675 True breast myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002064 MONDO:0001574 True breast angiomatosis capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002064 MONDO:0002657 True breast angiomatosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002065 MONDO:0000620 True benign breast adenomyoepithelioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002065 MONDO:0002066 True benign breast adenomyoepithelioma breast adenomyoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002066 MONDO:0002483 True breast adenomyoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002067 MONDO:0004379 True female breast upper-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002068 MONDO:0004379 True female breast lower-inner quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002069 MONDO:0004379 True female breast axillary tail cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002070 MONDO:0002078 True ventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002071 MONDO:0001657 True supratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002073 MONDO:0003000 True malignant pineal area germ cell neoplasm central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002073 MONDO:0003113 True malignant pineal area germ cell neoplasm extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002073 MONDO:0003249 True malignant pineal area germ cell neoplasm pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002074 MONDO:0006816 True Behcet syndrome arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002075 MONDO:0002076 True spontaneous tension pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002076 MONDO:0002037 True pneumothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002077 MONDO:0005918 True low implantation of placenta placenta praevia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002078 MONDO:0005453 True heart septal defect congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002082 MONDO:0005070 True endocrine gland neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002082 MONDO:0005151 True endocrine gland neoplasm endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002085 MONDO:0005395 True benign shuddering attacks movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002086 MONDO:0002093 True clear cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002087 MONDO:0004992 True peritoneum cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002087 MONDO:0006901 True peritoneum cancer peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002088 MONDO:0006951 True partial retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002089 MONDO:0002311 True retinal vascular occlusion retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002090 MONDO:0002381 True eccrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002092 MONDO:0001572 True small intestine leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002092 MONDO:0021501 True small intestine leiomyoma benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002093 MONDO:0024666 True acanthoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002095 MONDO:0002100 True vascular cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002095 MONDO:0021080 True vascular cancer blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002096 MONDO:0003454 True malignant conjunctival melanoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002096 MONDO:0006325 True malignant conjunctival melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002098 MONDO:0003569 True facial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002098 MONDO:0003620 True facial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002099 MONDO:0018312 True Histoplasma capsulatum infectious disease histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002100 MONDO:0004992 True cardiovascular cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002100 MONDO:0024757 True cardiovascular cancer cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002101 MONDO:0002098 True facial nerve neoplasm facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002101 MONDO:0002633 True facial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002102 MONDO:0004748 True cheilitis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002103 MONDO:0002025 True factitious disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002104 MONDO:0003117 True conversion disorder somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002105 MONDO:0001273 True toxic megacolon megacolon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002106 MONDO:0002467 True labyrinthine unilateral reactive loss inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002107 MONDO:0002467 True unilateral hyperactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002108 MONDO:0015074 True thyroid cancer thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002108 MONDO:0021069 True thyroid cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002109 MONDO:0017611 True pituitary cancer pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002109 MONDO:0021069 True pituitary cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002110 MONDO:0000383 True adrenal rest tumor benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002112 MONDO:0000650 True benign peritoneal mesothelioma peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002112 MONDO:0006362 True benign peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002113 MONDO:0002087 True peritoneal carcinoma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002113 MONDO:0004993 True peritoneal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002114 MONDO:0004699 True pancreas lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002114 MONDO:0009831 True pancreas lymphoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002116 MONDO:0009831 True malignant exocrine pancreas neoplasm malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002116 MONDO:0021076 True malignant exocrine pancreas neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002117 MONDO:0009831 True pancreas sarcoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002117 MONDO:0018078 True pancreas sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002119 MONDO:0000631 True ossifying fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002120 MONDO:0004993 True neuroendocrine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002120 MONDO:0019496 True neuroendocrine carcinoma neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002120 MONDO:0021069 True neuroendocrine carcinoma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002121 MONDO:0001397 True mononeuritis simplex mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002122 MONDO:0005244 True neuritis peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002123 MONDO:0005557 True calcinosis calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002124 MONDO:0001854 True secondary lacrimal atrophy lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002125 MONDO:0005027 True status epilepticus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002127 MONDO:0001556 True urethral stricture urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002128 MONDO:0003607 True mononeuritis multiplex neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002129 MONDO:0000637 True bone cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002129 MONDO:0019060 True bone cancer bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002130 MONDO:0002121 True upper limb mononeuronitis mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002130 MONDO:0003607 True upper limb mononeuronitis neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002132 MONDO:0002129 True skull cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002134 MONDO:0005039 True physiological sexual disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002135 MONDO:0003569 True optic nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002136 MONDO:0002137 True eczematous dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002137 MONDO:0004785 True noninfectious dermatoses of eyelid blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002138 MONDO:0002137 True allergic contact dermatitis of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002139 MONDO:0003409 True sigmoid disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002140 MONDO:0001402 True vagina sarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002140 MONDO:0018078 True vagina sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002141 MONDO:0002142 True cutaneous undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002141 MONDO:0006414 True cutaneous undifferentiated pleomorphic sarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002142 MONDO:0018078 True undifferentiated pleomorphic sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002142 MONDO:0021054 True undifferentiated pleomorphic sarcoma bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002143 MONDO:0005744 True vaginal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002145 MONDO:0002259 True disorder of sexual differentiation gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002145 MONDO:0019755 True disorder of sexual differentiation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002146 MONDO:0002259 True hypogonadism gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002149 MONDO:0004992 True reproductive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002149 MONDO:0006054 True reproductive system cancer reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002152 MONDO:0003432 True intermittent squint strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002153 MONDO:0004907 True telogen effluvium alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002154 MONDO:0002428 True trichomoniasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002155 MONDO:0004789 True cholecystitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002156 MONDO:0002263 True fallopian tube disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002158 MONDO:0001416 True fallopian tube cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002158 MONDO:0021092 True fallopian tube cancer fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002159 MONDO:0002158 True fallopian tube leiomyosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002159 MONDO:0005058 True fallopian tube leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002162 MONDO:0002158 True fallopian tube adenosarcoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002162 MONDO:0005636 True fallopian tube adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002163 MONDO:0005106 True thymus lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002164 MONDO:0004674 True focal chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002165 MONDO:0005335 True rectal neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002166 MONDO:0006519 True rectum lymphoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002166 MONDO:0024656 True rectum lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002167 MONDO:0006519 True rectum malignant melanoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002167 MONDO:0045070 True rectum malignant melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002168 MONDO:0005089 True rectum sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002168 MONDO:0006519 True rectum sarcoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002169 MONDO:0005008 True rectum adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002169 MONDO:0044937 True rectum adenocarcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002170 MONDO:0002172 True chronic eustachian salpingitis otosalpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002171 MONDO:0005070 True giant cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002172 MONDO:0004866 True otosalpingitis eustachian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002172 MONDO:0005441 True otosalpingitis otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002174 MONDO:0002175 True preretinal fibrosis degeneration of macula and posterior pole SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002175 MONDO:0003004 True degeneration of macula and posterior pole macular degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002177 MONDO:0002908 True hyperinsulinism glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002178 MONDO:0002715 True placenta cancer uterine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002178 MONDO:0021218 True placenta cancer placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002181 MONDO:0002185 True exostosis hyperostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002182 MONDO:0000592 True communication disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002183 MONDO:0002081 True enthesopathy musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002183 MONDO:0003900 True enthesopathy connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002184 MONDO:0002251 True drug-induced hepatitis hepatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002185 MONDO:0000833 True hyperostosis bone remodeling disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002186 MONDO:0005842 True acute maxillary sinusitis maxillary sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002187 MONDO:0002263 True vulvar disease female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002188 MONDO:0000643 True vulvar nodular hidradenoma vulvar benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002188 MONDO:0002189 True vulvar nodular hidradenoma nodular hidradenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002188 MONDO:0021489 True vulvar nodular hidradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002188 MONDO:0024666 True vulvar nodular hidradenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002189 MONDO:0002805 True nodular hidradenoma hidradenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002190 MONDO:0000643 True vulvar syringoma vulvar benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002190 MONDO:0002191 True vulvar syringoma syringoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002190 MONDO:0021489 True vulvar syringoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002191 MONDO:0002381 True syringoma sweat gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002192 MONDO:0000643 True vulvar angiokeratoma vulvar benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002193 MONDO:0000626 True Bartholin gland benign neoplasm vestibular gland benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002194 MONDO:0000643 True vestibular papilloma vulvar benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002194 MONDO:0001825 True vestibular papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002194 MONDO:0002195 True vestibular papilloma vulvar squamous neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002195 MONDO:0002532 True vulvar squamous neoplasm squamous cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002195 MONDO:0021049 True vulvar squamous neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002196 MONDO:0006807 True perinatal intestinal perforation intestinal perforation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002197 MONDO:0000626 True minor vestibular glands adenoma vestibular gland benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002197 MONDO:0002198 True minor vestibular glands adenoma vulvar glandular neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002197 MONDO:0004972 True minor vestibular glands adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002197 MONDO:0036976 True minor vestibular glands adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002198 MONDO:0021049 True vulvar glandular neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002198 MONDO:0024276 True vulvar glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002199 MONDO:0000643 True benign mixed tumor of the vulva vulvar benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002200 MONDO:0002090 True eccrine mixed tumor of skin eccrine sweat gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002200 MONDO:0021043 True eccrine mixed tumor of skin mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002201 MONDO:0000643 True vulvar trichoepithelioma vulvar benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002201 MONDO:0020593 True vulvar trichoepithelioma trichoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002202 MONDO:0002203 True outlet dysfunction constipation constipation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002205 MONDO:0001528 True vulvar melanoma vulva cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002205 MONDO:0006320 True vulvar melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002206 MONDO:0002381 True sweat gland cancer sweat gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002206 MONDO:0002898 True sweat gland cancer skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002207 MONDO:0008177 True vulval Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002207 MONDO:0024336 True vulval Paget disease vulvar adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002209 MONDO:0002181 True heel spur exostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002211 MONDO:0003778 True B cell deficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002212 MONDO:0018077 True pneumonic tularemia tularemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002214 MONDO:0001657 True brain germinoma brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002214 MONDO:0002999 True brain germinoma central nervous system germinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002216 MONDO:0001657 True brain sarcoma brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002216 MONDO:0002217 True brain sarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002217 MONDO:0002714 True central nervous system sarcoma central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002217 MONDO:0018078 True central nervous system sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002218 MONDO:0002731 True temporal lobe cancer cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002220 MONDO:0006999 True tooth hard tissue disease tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002221 MONDO:0004041 True urethral urothelial papilloma urothelial papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002224 MONDO:0008170 True malignant ovarian cyst ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002225 MONDO:0018078 True ovarian sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002226 MONDO:0006002 True tuberculous oophoritis urogenital tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002227 MONDO:0005062 True ovarian lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002227 MONDO:0008170 True ovarian lymphoma ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002229 MONDO:0005626 True ovarian epithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002229 MONDO:0021068 True ovarian epithelial tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002230 MONDO:0006058 True ovarian Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002230 MONDO:0008170 True ovarian Wilms tumor ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002232 MONDO:0002436 True nasal cavity disorder nasal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002232 MONDO:0004867 True nasal cavity disorder upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002233 MONDO:0005276 True enamel caries dental caries SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002234 MONDO:0001433 True vaginitis vaginal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002235 MONDO:0002531 True eyelid neoplasm skin neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002235 MONDO:0003382 True eyelid neoplasm eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002235 MONDO:0021220 True eyelid neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002236 MONDO:0000649 True ocular cancer sensory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002236 MONDO:0021220 True ocular cancer eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002237 MONDO:0002922 True carbuncle pyoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002238 MONDO:0021063 True ascending colon cancer malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002239 MONDO:0001933 True post-surgical hypoinsulinemia endocrine pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002240 MONDO:0002246 True acute perichondritis of pinna perichondritis of auricle SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002243 MONDO:0005570 True hemorrhagic disease hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002246 MONDO:0004795 True perichondritis of auricle otitis externa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002250 MONDO:0000473 True basilar artery insufficiency arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002250 MONDO:0002254 True basilar artery insufficiency syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002251 MONDO:0005154 True hepatitis liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002252 MONDO:0002251 True granulomatous hepatitis hepatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002253 MONDO:0000836 True spondylosis disease of bone structure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002255 MONDO:0002256 True hypertrophic elongation of cervix cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002256 MONDO:0002654 True cervix disorder uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002257 MONDO:0006816 True ankylosis arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002258 MONDO:0004867 True pharyngitis upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002259 MONDO:0005151 True gonadal disorder endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002261 MONDO:0000942 True keratopathy corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002262 MONDO:0001574 True capillary lymphangioma capillary disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002262 MONDO:0002013 True capillary lymphangioma lymphangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002262 MONDO:0024286 True capillary lymphangioma benign blood vessel neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002263 MONDO:0005039 True female reproductive system disorder reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002265 MONDO:0000592 True stereotypic movement disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002266 MONDO:0017853 True malt worker's lung hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002267 MONDO:0005275 True obstructive lung disease lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002270 MONDO:0004966 True viral gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002270 MONDO:0005108 True viral gastritis viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002271 MONDO:0002032 True colon adenocarcinoma colon carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002271 MONDO:0005008 True colon adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002272 MONDO:0002273 True polyclonal hypergammaglobulinemia plasma protein metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002273 MONDO:0019052 True plasma protein metabolism disease inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002274 MONDO:0002273 True monoclonal paraproteinemia disease plasma protein metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002275 MONDO:0005311 True generalized atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002277 MONDO:0000473 True arteriosclerosis disorder arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002278 MONDO:0005401 True benign colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002278 MONDO:0021444 True benign colon neoplasm benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002279 MONDO:0000226 True iron metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002280 MONDO:0005570 True anemia hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002281 MONDO:0002280 True macrocytic anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002287 MONDO:0006030 True glandular cystitis chronic cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002289 MONDO:0002661 True iris disorder uveal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002290 MONDO:0001528 True clitoris cancer vulva cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002291 MONDO:0002300 True cutaneous granular cell tumor dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002291 MONDO:0006235 True cutaneous granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002293 MONDO:0005033 True cutaneous ganglioneuroma ganglioneuroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002295 MONDO:0002300 True skin glomus tumor dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002295 MONDO:0018327 True skin glomus tumor glomus tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002297 MONDO:0002531 True epidermal appendage tumor skin neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002298 MONDO:0002295 True cutaneous glomangioma skin glomus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002298 MONDO:0002299 True cutaneous glomangioma glomangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002299 MONDO:0018327 True glomangioma glomus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002300 MONDO:0002531 True dermis tumor skin neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002301 MONDO:0001756 True frontal sinus squamous cell carcinoma frontal sinus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002301 MONDO:0044705 True frontal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002303 MONDO:0004634 True central retinal vein occlusion vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002303 MONDO:0006951 True central retinal vein occlusion retinal vein occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002304 MONDO:0002305 True protein S deficiency thrombophilia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002305 MONDO:0001531 True thrombophilia blood coagulation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002306 MONDO:0002307 True angular blepharoconjunctivitis blepharoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002307 MONDO:0004785 True blepharoconjunctivitis blepharitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002308 MONDO:0002309 True giant papillary conjunctivitis papillary conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002309 MONDO:0003799 True papillary conjunctivitis conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002310 MONDO:0005328 True anterior dislocation of lens eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002311 MONDO:0005283 True retinal vascular disorder retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002312 MONDO:0002041 True opportunistic mycosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002313 MONDO:0002314 True vernal conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002314 MONDO:0003799 True chronic conjunctivitis conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002316 MONDO:0005244 True motor peripheral neuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002317 MONDO:0005560 True central nervous system origin vertigo brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002318 MONDO:0001572 True trachea leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002318 MONDO:0021517 True trachea leiomyoma benign neoplasm of trachea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002319 MONDO:0000226 True phosphorus metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002320 MONDO:0005071 True congenital nervous system disorder nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002321 MONDO:0005244 True sensory peripheral neuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002322 MONDO:0005385 True angiodysplasia vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002323 MONDO:0002407 True cherry hemangioma capillary hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002323 MONDO:0003110 True cherry hemangioma skin hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002325 MONDO:0006999 True tooth erosion, non-bacterial tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002327 MONDO:0002328 True intracranial cavernous angioma intracranial hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002327 MONDO:0003155 True intracranial cavernous angioma cavernous hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002329 MONDO:0002259 True testicular disorder gonadal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002329 MONDO:0003150 True testicular disorder male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002330 MONDO:0002326 True alcoholic psychosis alcohol-induced mental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002330 MONDO:0005485 True alcoholic psychosis psychotic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002331 MONDO:0005240 True nephrosis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002332 MONDO:0005570 True splenic disorder hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002332 MONDO:0005833 True splenic disorder lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002334 MONDO:0005570 True hematopoietic and lymphoid system neoplasm hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002342 MONDO:0003816 True chondromalacia articular cartilage disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002343 MONDO:0002337 True splenic hemangioma intra-abdominal hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002343 MONDO:0021500 True splenic hemangioma benign neoplasm of spleen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002345 MONDO:0002256 True cervicitis cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002347 MONDO:0005303 True barbiturate dependence drug dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002350 MONDO:0005377 True familial nephrotic syndrome nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002351 MONDO:0002352 True glottis cancer larynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002351 MONDO:0002353 True glottis cancer glottis neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002352 MONDO:0000376 True larynx cancer respiratory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002352 MONDO:0021071 True larynx cancer laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002353 MONDO:0021071 True glottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002354 MONDO:0000382 True benign laryngeal neoplasm respiratory system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002354 MONDO:0021071 True benign laryngeal neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002355 MONDO:0002351 True glottis carcinoma glottis cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002355 MONDO:0002358 True glottis carcinoma laryngeal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002356 MONDO:0005151 True pancreas disorder endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002357 MONDO:0002238 True hepatic flexure cancer ascending colon cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002358 MONDO:0002352 True laryngeal carcinoma larynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002358 MONDO:0004993 True laryngeal carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002359 MONDO:0000631 True periosteal chondroma bone benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002359 MONDO:0002360 True periosteal chondroma chondroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002360 MONDO:0024470 True chondroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002361 MONDO:0021063 True transverse colon cancer malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002362 MONDO:0002363 True serous surface papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002363 MONDO:0021096 True papilloma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002363 MONDO:0036976 True papilloma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002365 MONDO:0005094 True kidney hemangiopericytoma hemangiopericytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002366 MONDO:0001406 True autonomic nervous system neoplasm peripheral nervous system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002367 MONDO:0006295 True kidney cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002367 MONDO:0021163 True kidney cancer kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002368 MONDO:0005074 True papillary serous cystadenocarcinoma papillary cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002368 MONDO:0024621 True papillary serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002369 MONDO:0004972 True cystadenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002369 MONDO:0021077 True cystadenoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002369 MONDO:0024276 True cystadenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002370 MONDO:0002229 True ovarian Brenner tumor ovarian epithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002370 MONDO:0024235 True ovarian Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002371 MONDO:0002056 True breast pericanalicular fibroadenoma breast fibroadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002372 MONDO:0003331 True ovarian monodermal and highly specialized teratoma ovarian monodermal teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002373 MONDO:0005165 True benign mesothelioma benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002375 MONDO:0004972 True sebaceous adenoma adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002375 MONDO:0006963 True sebaceous adenoma sebaceous gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002375 MONDO:0021634 True sebaceous adenoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002376 MONDO:0005966 True spleen angiosarcoma spleen cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002376 MONDO:0016982 True spleen angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002377 MONDO:0002056 True breast intracanalicular fibroadenoma breast fibroadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002378 MONDO:0002379 True dermoid cyst cystic teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002379 MONDO:0002601 True cystic teratoma teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002381 MONDO:0002297 True sweat gland neoplasm epidermal appendage tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002381 MONDO:0006615 True sweat gland neoplasm sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002382 MONDO:0006854 True benign mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002383 MONDO:0016755 True Pacinian tumor neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002385 MONDO:0002513 True benign cystic nephroma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002386 MONDO:0021163 True mixed epithelial stromal tumor of the kidney kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002387 MONDO:0002397 True liver angiosarcoma liver sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002387 MONDO:0002405 True liver angiosarcoma hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002387 MONDO:0016982 True liver angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002395 MONDO:0002513 True renal adenoma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002395 MONDO:0004972 True renal adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002396 MONDO:0002513 True nephrogenic adenofibroma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002396 MONDO:0021045 True nephrogenic adenofibroma fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002397 MONDO:0002691 True liver sarcoma liver cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002397 MONDO:0018078 True liver sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002398 MONDO:0006071 True mucinous adenofibroma adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002398 MONDO:0024338 True mucinous adenofibroma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002399 MONDO:0002522 True tenosynovial giant cell tumor, localized type tenosynovial giant cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002399 MONDO:0024715 True tenosynovial giant cell tumor, localized type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002400 MONDO:0003900 True synovitis connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002401 MONDO:0002402 True malignant tenosynovial giant cell tumor malignant giant cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002401 MONDO:0002403 True malignant tenosynovial giant cell tumor synovium cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002401 MONDO:0002522 True malignant tenosynovial giant cell tumor tenosynovial giant cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002402 MONDO:0004992 True malignant giant cell tumor cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002403 MONDO:0000637 True synovium cancer musculoskeletal system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002403 MONDO:0002528 True synovium cancer synovium neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002404 MONDO:0000385 True liver hemangioma benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002404 MONDO:0000627 True liver hemangioma benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002404 MONDO:0002337 True liver hemangioma intra-abdominal hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002404 MONDO:0024477 True liver hemangioma liver and intrahepatic bile duct neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002405 MONDO:0005154 True hepatic vascular disorder liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002405 MONDO:0005385 True hepatic vascular disorder vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002406 MONDO:0005093 True dermatitis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002407 MONDO:0006500 True capillary hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002410 MONDO:0006938 True pyeloureteritis cystica pyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002411 MONDO:0002028 True narcissistic personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002412 MONDO:0019214 True disorder of glycogen metabolism inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002413 MONDO:0002412 True glycogen storage disease I disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0002414 MONDO:0002337 True gastric hemangioma intra-abdominal hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002414 MONDO:0021449 True gastric hemangioma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002415 MONDO:0002129 True bone carcinoma bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002415 MONDO:0004993 True bone carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002416 MONDO:0001763 True ethmoid sinus squamous cell carcinoma ethmoid sinus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002416 MONDO:0044705 True ethmoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002418 MONDO:0001763 True ethmoid sinus adenocarcinoma ethmoid sinus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002418 MONDO:0004970 True ethmoid sinus adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002419 MONDO:0002420 True transient tic disorder tic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002420 MONDO:0000592 True tic disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002423 MONDO:0006971 True rectosigmoid junction neoplasm sigmoid neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002424 MONDO:0002425 True rectosigmoid carcinoma rectosigmoid junction cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002425 MONDO:0001464 True rectosigmoid junction cancer sigmoid colon cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002425 MONDO:0002423 True rectosigmoid junction cancer rectosigmoid junction neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002426 MONDO:0008903 True lung sarcoma lung cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002426 MONDO:0018078 True lung sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002427 MONDO:0005560 True cerebellar disorder brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002428 MONDO:0005135 True protozoa infectious disease parasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002429 MONDO:0005249 True idiopathic interstitial pneumonia pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002432 MONDO:0002433 True malignant neoplasm of acoustic nerve malignant cranial nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002432 MONDO:0004532 True malignant neoplasm of acoustic nerve auditory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002432 MONDO:0021221 True malignant neoplasm of acoustic nerve vestibulocochlear nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002433 MONDO:0002633 True malignant cranial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002434 MONDO:0002433 True oculomotor nerve cancer malignant cranial nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002434 MONDO:0002435 True oculomotor nerve cancer oculomotor nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002435 MONDO:0002633 True oculomotor nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002435 MONDO:0003546 True oculomotor nerve neoplasm third cranial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002438 MONDO:0005571 True acquired polycythemia polycythemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002441 MONDO:0019171 True Jervell and Lange-Nielsen syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002443 MONDO:0003406 True bruxism sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002447 MONDO:0011962 True endometrial carcinoma endometrial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002448 MONDO:0002352 True laryngeal sarcoma larynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002449 MONDO:0001515 True nodular degeneration of cornea corneal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002450 MONDO:0004972 True prostatic adenoma adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002450 MONDO:0021510 True prostatic adenoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002450 MONDO:0036976 True prostatic adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002451 MONDO:0021102 True benign prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002451 MONDO:0021510 True benign prostate phyllodes tumor benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002451 MONDO:0037002 True benign prostate phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002452 MONDO:0001572 True prostate leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002452 MONDO:0021510 True prostate leiomyoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002453 MONDO:0002409 True retrocochlear disease auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002455 MONDO:0005131 True exocervical carcinoma cervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0000426 True Treacher-Collins syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0002254 True Treacher-Collins syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0015161 True Treacher-Collins syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0015483 True Treacher-Collins syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002457 MONDO:0018751 True Treacher-Collins syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002459 MONDO:0000605 True type IV hypersensitivity disease hypersensitivity reaction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002460 MONDO:0001854 True lacrimal system cancer lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002460 MONDO:0002236 True lacrimal system cancer ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002461 MONDO:0002462 True membranoproliferative glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002462 MONDO:0001166 True glomerulonephritis nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002463 MONDO:0002464 True lacrimal gland carcinoma lacrimal gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002463 MONDO:0002466 True lacrimal gland carcinoma eye carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002464 MONDO:0002460 True lacrimal gland cancer lacrimal system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002464 MONDO:0021222 True lacrimal gland cancer lacrimal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002465 MONDO:0005275 True bronchiolitis lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002466 MONDO:0002236 True eye carcinoma ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002172 MONDO:0005441 True otosalpingitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002174 MONDO:0002175 True preretinal fibrosis degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002175 MONDO:0003004 True degeneration of macula and posterior pole macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002177 MONDO:0002908 True hyperinsulinism glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002178 MONDO:0002715 True placenta cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002178 MONDO:0021218 True placenta cancer placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002181 MONDO:0002185 True exostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002182 MONDO:0000592 True communication disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002183 MONDO:0002081 True enthesopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002183 MONDO:0003900 True enthesopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002184 MONDO:0002251 True drug-induced hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002185 MONDO:0000833 True hyperostosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002186 MONDO:0005842 True acute maxillary sinusitis maxillary sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002187 MONDO:0002263 True vulvar disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002188 MONDO:0000643 True vulvar nodular hidradenoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002188 MONDO:0002189 True vulvar nodular hidradenoma nodular hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002188 MONDO:0021489 True vulvar nodular hidradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002188 MONDO:0024666 True vulvar nodular hidradenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002189 MONDO:0002805 True nodular hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002190 MONDO:0000643 True vulvar syringoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002190 MONDO:0002191 True vulvar syringoma syringoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002190 MONDO:0021489 True vulvar syringoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002191 MONDO:0002381 True syringoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002192 MONDO:0000643 True vulvar angiokeratoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002193 MONDO:0000626 True Bartholin gland benign neoplasm vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002194 MONDO:0000643 True vestibular papilloma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002194 MONDO:0001825 True vestibular papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002194 MONDO:0002195 True vestibular papilloma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002195 MONDO:0002532 True vulvar squamous neoplasm squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002195 MONDO:0021049 True vulvar squamous neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002196 MONDO:0006807 True perinatal intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002197 MONDO:0000626 True minor vestibular glands adenoma vestibular gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002197 MONDO:0002198 True minor vestibular glands adenoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002197 MONDO:0004972 True minor vestibular glands adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002197 MONDO:0036976 True minor vestibular glands adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002198 MONDO:0021049 True vulvar glandular neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002198 MONDO:0024276 True vulvar glandular neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002199 MONDO:0000643 True benign mixed tumor of the vulva vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002200 MONDO:0002090 True eccrine mixed tumor of skin eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002200 MONDO:0021043 True eccrine mixed tumor of skin mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002201 MONDO:0000643 True vulvar trichoepithelioma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002201 MONDO:0020593 True vulvar trichoepithelioma trichoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002202 MONDO:0002203 True outlet dysfunction constipation constipation disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002205 MONDO:0001528 True vulvar melanoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002205 MONDO:0006320 True vulvar melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002206 MONDO:0002381 True sweat gland cancer sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002206 MONDO:0002898 True sweat gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002207 MONDO:0008177 True vulval Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002207 MONDO:0024336 True vulval Paget disease vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002209 MONDO:0002181 True heel spur exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002211 MONDO:0003778 True B cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002212 MONDO:0018077 True pneumonic tularemia tularemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002214 MONDO:0001657 True brain germinoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002214 MONDO:0002999 True brain germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002216 MONDO:0001657 True brain sarcoma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002216 MONDO:0002217 True brain sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002217 MONDO:0002714 True central nervous system sarcoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002217 MONDO:0018078 True central nervous system sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002218 MONDO:0002731 True temporal lobe cancer cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002220 MONDO:0006999 True tooth hard tissue disease tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002221 MONDO:0004041 True urethral urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002224 MONDO:0008170 True malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002225 MONDO:0018078 True ovarian sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002226 MONDO:0006002 True tuberculous oophoritis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002227 MONDO:0005062 True ovarian lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002227 MONDO:0008170 True ovarian lymphoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002229 MONDO:0005626 True ovarian epithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002229 MONDO:0021068 True ovarian epithelial tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002230 MONDO:0006058 True ovarian Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002230 MONDO:0008170 True ovarian Wilms tumor ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002232 MONDO:0002436 True nasal cavity disorder nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002232 MONDO:0004867 True nasal cavity disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002233 MONDO:0005276 True enamel caries dental caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002234 MONDO:0001433 True vaginitis vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002235 MONDO:0002531 True eyelid neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002235 MONDO:0003382 True eyelid neoplasm eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002235 MONDO:0021220 True eyelid neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002236 MONDO:0000649 True ocular cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002236 MONDO:0021220 True ocular cancer eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002237 MONDO:0002922 True carbuncle pyoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002238 MONDO:0021063 True ascending colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002239 MONDO:0001933 True post-surgical hypoinsulinemia endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002240 MONDO:0002246 True acute perichondritis of pinna perichondritis of auricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002243 MONDO:0005570 True hemorrhagic disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002246 MONDO:0004795 True perichondritis of auricle otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002250 MONDO:0000473 True basilar artery insufficiency arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002250 MONDO:0002254 True basilar artery insufficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002251 MONDO:0005154 True hepatitis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002252 MONDO:0002251 True granulomatous hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002253 MONDO:0000836 True spondylosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002255 MONDO:0002256 True hypertrophic elongation of cervix cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002256 MONDO:0002654 True cervix disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002257 MONDO:0006816 True ankylosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002258 MONDO:0004867 True pharyngitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002259 MONDO:0005151 True gonadal disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002261 MONDO:0000942 True keratopathy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002262 MONDO:0001574 True capillary lymphangioma capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002262 MONDO:0002013 True capillary lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002262 MONDO:0024286 True capillary lymphangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002263 MONDO:0005039 True female reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002265 MONDO:0000592 True stereotypic movement disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002266 MONDO:0017853 True malt worker's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002267 MONDO:0005275 True obstructive lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002270 MONDO:0004966 True viral gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002270 MONDO:0005108 True viral gastritis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002271 MONDO:0002032 True colon adenocarcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002271 MONDO:0005008 True colon adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002272 MONDO:0002273 True polyclonal hypergammaglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002273 MONDO:0019052 True plasma protein metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002274 MONDO:0002273 True monoclonal paraproteinemia disease plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002275 MONDO:0005311 True generalized atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002277 MONDO:0000473 True arteriosclerosis disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002278 MONDO:0005401 True benign colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002278 MONDO:0021444 True benign colon neoplasm benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002279 MONDO:0000226 True iron metabolism disease mineral metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002280 MONDO:0005570 True anemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002281 MONDO:0002280 True macrocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002287 MONDO:0006030 True glandular cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002289 MONDO:0002661 True iris disorder uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002290 MONDO:0001528 True clitoris cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002291 MONDO:0002300 True cutaneous granular cell tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002291 MONDO:0006235 True cutaneous granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002293 MONDO:0005033 True cutaneous ganglioneuroma ganglioneuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002295 MONDO:0002300 True skin glomus tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002295 MONDO:0018327 True skin glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002297 MONDO:0002531 True epidermal appendage tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002298 MONDO:0002295 True cutaneous glomangioma skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002298 MONDO:0002299 True cutaneous glomangioma glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002299 MONDO:0018327 True glomangioma glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002300 MONDO:0002531 True dermis tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002301 MONDO:0001756 True frontal sinus squamous cell carcinoma frontal sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002301 MONDO:0044705 True frontal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002303 MONDO:0004634 True central retinal vein occlusion vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002303 MONDO:0006951 True central retinal vein occlusion retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002304 MONDO:0002305 True protein S deficiency thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002305 MONDO:0001531 True thrombophilia blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002306 MONDO:0002307 True angular blepharoconjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002307 MONDO:0004785 True blepharoconjunctivitis blepharitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002308 MONDO:0002309 True giant papillary conjunctivitis papillary conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002309 MONDO:0003799 True papillary conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002310 MONDO:0005328 True anterior dislocation of lens eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002311 MONDO:0005283 True retinal vascular disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002312 MONDO:0002041 True opportunistic mycosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002313 MONDO:0002314 True vernal conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002314 MONDO:0003799 True chronic conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002316 MONDO:0005244 True motor peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002317 MONDO:0005560 True central nervous system origin vertigo brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002318 MONDO:0001572 True trachea leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002318 MONDO:0021517 True trachea leiomyoma benign neoplasm of trachea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002319 MONDO:0000226 True phosphorus metabolism disease mineral metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002320 MONDO:0005071 True congenital nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002321 MONDO:0005244 True sensory peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002322 MONDO:0005385 True angiodysplasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002323 MONDO:0002407 True cherry hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002323 MONDO:0003110 True cherry hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002325 MONDO:0006999 True tooth erosion, non-bacterial tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002327 MONDO:0002328 True intracranial cavernous angioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002327 MONDO:0003155 True intracranial cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002329 MONDO:0002259 True testicular disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002329 MONDO:0003150 True testicular disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002330 MONDO:0002326 True alcoholic psychosis alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002330 MONDO:0005485 True alcoholic psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002331 MONDO:0005240 True nephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002332 MONDO:0005570 True splenic disorder hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002332 MONDO:0005833 True splenic disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002334 MONDO:0005570 True hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002342 MONDO:0003816 True chondromalacia articular cartilage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002343 MONDO:0002337 True splenic hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002343 MONDO:0021500 True splenic hemangioma benign neoplasm of spleen UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002345 MONDO:0002256 True cervicitis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002347 MONDO:0005303 True barbiturate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002350 MONDO:0005377 True familial nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002351 MONDO:0002352 True glottis cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002351 MONDO:0002353 True glottis cancer glottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002352 MONDO:0000376 True larynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002352 MONDO:0021071 True larynx cancer laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002353 MONDO:0021071 True glottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002354 MONDO:0000382 True benign laryngeal neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002354 MONDO:0021071 True benign laryngeal neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002355 MONDO:0002351 True glottis carcinoma glottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002355 MONDO:0002358 True glottis carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002356 MONDO:0005151 True pancreas disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002357 MONDO:0002238 True hepatic flexure cancer ascending colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002358 MONDO:0002352 True laryngeal carcinoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002358 MONDO:0004993 True laryngeal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002359 MONDO:0000631 True periosteal chondroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002359 MONDO:0002360 True periosteal chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002360 MONDO:0024470 True chondroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002361 MONDO:0021063 True transverse colon cancer malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002362 MONDO:0002363 True serous surface papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002363 MONDO:0021096 True papilloma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002363 MONDO:0036976 True papilloma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002365 MONDO:0005094 True kidney hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002366 MONDO:0001406 True autonomic nervous system neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002367 MONDO:0006295 True kidney cancer malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002367 MONDO:0021163 True kidney cancer kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002368 MONDO:0005074 True papillary serous cystadenocarcinoma papillary cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002368 MONDO:0024621 True papillary serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002369 MONDO:0004972 True cystadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002369 MONDO:0021077 True cystadenoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002369 MONDO:0024276 True cystadenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002370 MONDO:0002229 True ovarian Brenner tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002370 MONDO:0024235 True ovarian Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002371 MONDO:0002056 True breast pericanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002372 MONDO:0003331 True ovarian monodermal and highly specialized teratoma ovarian monodermal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002373 MONDO:0005165 True benign mesothelioma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002375 MONDO:0004972 True sebaceous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002375 MONDO:0006963 True sebaceous adenoma sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002375 MONDO:0021634 True sebaceous adenoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002376 MONDO:0005966 True spleen angiosarcoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002376 MONDO:0016982 True spleen angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002377 MONDO:0002056 True breast intracanalicular fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002378 MONDO:0002379 True dermoid cyst cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002379 MONDO:0002601 True cystic teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002381 MONDO:0002297 True sweat gland neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002381 MONDO:0006615 True sweat gland neoplasm sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002382 MONDO:0006854 True benign mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002383 MONDO:0016755 True Pacinian tumor neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002385 MONDO:0002513 True benign cystic nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002386 MONDO:0021163 True mixed epithelial stromal tumor of the kidney kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002387 MONDO:0002397 True liver angiosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002387 MONDO:0002405 True liver angiosarcoma hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002387 MONDO:0016982 True liver angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002395 MONDO:0002513 True renal adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002395 MONDO:0004972 True renal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002396 MONDO:0002513 True nephrogenic adenofibroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002396 MONDO:0021045 True nephrogenic adenofibroma fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002397 MONDO:0002691 True liver sarcoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002397 MONDO:0018078 True liver sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002398 MONDO:0006071 True mucinous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002398 MONDO:0024338 True mucinous adenofibroma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002399 MONDO:0002522 True tenosynovial giant cell tumor, localized type tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002399 MONDO:0024715 True tenosynovial giant cell tumor, localized type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002400 MONDO:0003900 True synovitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002401 MONDO:0002402 True malignant tenosynovial giant cell tumor malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002401 MONDO:0002403 True malignant tenosynovial giant cell tumor synovium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002401 MONDO:0002522 True malignant tenosynovial giant cell tumor tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002402 MONDO:0004992 True malignant giant cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002403 MONDO:0000637 True synovium cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002403 MONDO:0002528 True synovium cancer synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002404 MONDO:0000385 True liver hemangioma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002404 MONDO:0000627 True liver hemangioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002404 MONDO:0002337 True liver hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002404 MONDO:0024477 True liver hemangioma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002405 MONDO:0005154 True hepatic vascular disorder liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002405 MONDO:0005385 True hepatic vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002406 MONDO:0005093 True dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002407 MONDO:0006500 True capillary hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002410 MONDO:0006938 True pyeloureteritis cystica pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002411 MONDO:0002028 True narcissistic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002412 MONDO:0019214 True disorder of glycogen metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002413 MONDO:0002412 True glycogen storage disease I disorder of glycogen metabolism SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002414 MONDO:0002337 True gastric hemangioma intra-abdominal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002414 MONDO:0021449 True gastric hemangioma benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002415 MONDO:0002129 True bone carcinoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002415 MONDO:0004993 True bone carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002416 MONDO:0001763 True ethmoid sinus squamous cell carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002416 MONDO:0044705 True ethmoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002418 MONDO:0001763 True ethmoid sinus adenocarcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002418 MONDO:0004970 True ethmoid sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002419 MONDO:0002420 True transient tic disorder tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002420 MONDO:0000592 True tic disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002423 MONDO:0006971 True rectosigmoid junction neoplasm sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002424 MONDO:0002425 True rectosigmoid carcinoma rectosigmoid junction cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002425 MONDO:0001464 True rectosigmoid junction cancer sigmoid colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002425 MONDO:0002423 True rectosigmoid junction cancer rectosigmoid junction neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002426 MONDO:0008903 True lung sarcoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002426 MONDO:0018078 True lung sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002427 MONDO:0005560 True cerebellar disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002428 MONDO:0005135 True protozoa infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002429 MONDO:0005249 True idiopathic interstitial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002432 MONDO:0002433 True malignant neoplasm of acoustic nerve malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002432 MONDO:0004532 True malignant neoplasm of acoustic nerve auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002432 MONDO:0021221 True malignant neoplasm of acoustic nerve vestibulocochlear nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002433 MONDO:0002633 True malignant cranial nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002434 MONDO:0002433 True oculomotor nerve cancer malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002434 MONDO:0002435 True oculomotor nerve cancer oculomotor nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002435 MONDO:0002633 True oculomotor nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002435 MONDO:0003546 True oculomotor nerve neoplasm third cranial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002438 MONDO:0005571 True acquired polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002441 MONDO:0019171 True Jervell and Lange-Nielsen syndrome familial long QT syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0002443 MONDO:0003406 True bruxism sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002447 MONDO:0011962 True endometrial carcinoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002448 MONDO:0002352 True laryngeal sarcoma larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002449 MONDO:0001515 True nodular degeneration of cornea corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002450 MONDO:0004972 True prostatic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002450 MONDO:0021510 True prostatic adenoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002450 MONDO:0036976 True prostatic adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002451 MONDO:0021102 True benign prostate phyllodes tumor prostate phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002451 MONDO:0021510 True benign prostate phyllodes tumor benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002451 MONDO:0037002 True benign prostate phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002452 MONDO:0001572 True prostate leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002452 MONDO:0021510 True prostate leiomyoma benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002453 MONDO:0002409 True retrocochlear disease auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002455 MONDO:0005131 True exocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002457 MONDO:0000426 True Treacher-Collins syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002457 MONDO:0002254 True Treacher-Collins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002457 MONDO:0015161 True Treacher-Collins syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002457 MONDO:0015483 True Treacher-Collins syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002457 MONDO:0018751 True Treacher-Collins syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002459 MONDO:0000605 True type IV hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002460 MONDO:0001854 True lacrimal system cancer lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002460 MONDO:0002236 True lacrimal system cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002461 MONDO:0002462 True membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002462 MONDO:0001166 True glomerulonephritis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002463 MONDO:0002464 True lacrimal gland carcinoma lacrimal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002463 MONDO:0002466 True lacrimal gland carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002464 MONDO:0002460 True lacrimal gland cancer lacrimal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002464 MONDO:0021222 True lacrimal gland cancer lacrimal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002465 MONDO:0005275 True bronchiolitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002466 MONDO:0002236 True eye carcinoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002467 MONDO:0002409 True inner ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002468 MONDO:0002211 True hyperimmunoglobulin syndrome B cell deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002469 MONDO:0002463 True lacrimal gland carcinoma ex pleomorphic adenoma lacrimal gland carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002469 MONDO:0002472 True lacrimal gland carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002470 MONDO:0018053 True photosensitive trichothiodystrophy trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002471 MONDO:0006816 True bursitis arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002472 MONDO:0004993 True carcinoma ex pleomorphic adenoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002472 MONDO:0005853 True carcinoma ex pleomorphic adenoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002473 MONDO:0005240 True cystic kidney disease kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002474 MONDO:0019214 True primary hyperoxaluria inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002475 MONDO:0002463 True lacrimal gland adenocarcinoma lacrimal gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002475 MONDO:0004970 True lacrimal gland adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002476 MONDO:0005240 True anuria kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002477 MONDO:0019496 True prostate neuroendocrine neoplasm neuroendocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002477 MONDO:0021259 True prostate neuroendocrine neoplasm prostate neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002478 MONDO:0021043 True mixed germ cell-sex cord-stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002480 MONDO:0005626 True endometrioid tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002481 MONDO:0008170 True ovarian neuroendocrine neoplasm ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002481 MONDO:0019496 True ovarian neuroendocrine neoplasm neuroendocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002481 MONDO:0021069 True ovarian neuroendocrine neoplasm malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002482 MONDO:0021100 True nipple neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002483 MONDO:0002380 True breast myoepithelial tumor myoepithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002483 MONDO:0021100 True breast myoepithelial tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002485 MONDO:0019496 True breast neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002485 MONDO:0021100 True breast neuroendocrine neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002486 MONDO:0004658 True lobular neoplasia breast carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002487 MONDO:0006235 True breast granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002487 MONDO:0021100 True breast granular cell tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002488 MONDO:0021100 True intraductal breast neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002489 MONDO:0007254 True malignant breast phyllodes tumor breast cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002489 MONDO:0021047 True malignant breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002489 MONDO:0037003 True malignant breast phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002490 MONDO:0007254 True breast sarcoma breast cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002490 MONDO:0018078 True breast sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002491 MONDO:0002494 True substance abuse substance-related disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002492 MONDO:0001106 True acute kidney failure kidney failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002493 MONDO:0004965 True prostatic acinar adenocarcinoma acinar cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002493 MONDO:0005082 True prostatic acinar adenocarcinoma prostate adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002494 MONDO:0002025 True substance-related disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002495 MONDO:0002271 True colon signet ring cell adenocarcinoma colon adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002495 MONDO:0044336 True colon signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002496 MONDO:0002271 True submucosal invasive colon adenocarcinoma colon adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002496 MONDO:0040677 True submucosal invasive colon adenocarcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002501 MONDO:0005499 True brain glioblastoma brain glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002501 MONDO:0018177 True brain glioblastoma glioblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002503 MONDO:0021636 True adult astrocytic tumor astrocytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002505 MONDO:0021079 True childhood astrocytic tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002505 MONDO:0021636 True childhood astrocytic tumor astrocytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002507 MONDO:0002021 True gingival overgrowth gingival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002508 MONDO:0002021 True gingivitis gingival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002511 MONDO:0001854 True stenosis of lacrimal sac lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002512 MONDO:0004970 True papillary adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002512 MONDO:0006509 True papillary adenocarcinoma papillary carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002513 MONDO:0004180 True kidney benign neoplasm benign urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002513 MONDO:0021163 True kidney benign neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002514 MONDO:0002515 True hepatobiliary neoplasm hepatobiliary disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002514 MONDO:0021223 True hepatobiliary neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002515 MONDO:0004335 True hepatobiliary disorder digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002516 MONDO:0004335 True digestive system cancer digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002516 MONDO:0004992 True digestive system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002516 MONDO:0021223 True digestive system cancer digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002517 MONDO:0004855 True tenosynovitis of foot and ankle tenosynovitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002518 MONDO:0021096 True gallbladder papillary neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002518 MONDO:0021253 True gallbladder papillary neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002519 MONDO:0001593 True anus disorder rectal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002522 MONDO:0002171 True tenosynovial giant cell tumor giant cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002522 MONDO:0002528 True tenosynovial giant cell tumor synovium neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002525 MONDO:0019052 True inherited lipid metabolism disorder inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002526 MONDO:0003155 True dermal unilateral segmental cavernous angioma cavernous hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002527 MONDO:0021634 True keratoacanthoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002528 MONDO:0006424 True synovium neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002529 MONDO:0002656 True skin squamous cell carcinoma skin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002529 MONDO:0005096 True skin squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002531 MONDO:0005070 True skin neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002531 MONDO:0005093 True skin neoplasm skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002532 MONDO:0005626 True squamous cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002533 MONDO:0004972 True papillary adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002533 MONDO:0021096 True papillary adenoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002534 MONDO:0000645 True fallopian tube papilloma fallopian tube benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002534 MONDO:0002363 True fallopian tube papilloma papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002535 MONDO:0002363 True verrucous papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002536 MONDO:0002363 True skin papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002536 MONDO:0024666 True skin papilloma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002537 MONDO:0002363 True inverted papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002540 MONDO:0016695 True childhood oligodendroglioma oligodendroglioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002541 MONDO:0002542 True spinal cord oligodendroglioma spinal cord glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002541 MONDO:0016695 True spinal cord oligodendroglioma oligodendroglioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002542 MONDO:0003544 True spinal cord glioma spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002542 MONDO:0100342 True spinal cord glioma malignant glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002543 MONDO:0016695 True adult oligodendroglioma oligodendroglioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002544 MONDO:0005499 True brain oligodendroglioma brain glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002544 MONDO:0016695 True brain oligodendroglioma oligodendroglioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002545 MONDO:0002602 True spinal cord disorder central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002546 MONDO:0002547 True schwannoma nerve sheath neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002546 MONDO:0016752 True schwannoma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002547 MONDO:0001406 True nerve sheath neoplasm peripheral nervous system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002548 MONDO:0002546 True cellular schwannoma schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002549 MONDO:0002546 True schwannoma of twelfth cranial nerve schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002549 MONDO:0002550 True schwannoma of twelfth cranial nerve hypoglossal nerve neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002550 MONDO:0001810 True hypoglossal nerve neoplasm hypoglossal nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002550 MONDO:0002633 True hypoglossal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002551 MONDO:0002553 True c-P angle neurinoma cerebellopontine angle tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002552 MONDO:0002545 True vascular myelopathy spinal cord disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002553 MONDO:0021211 True cerebellopontine angle tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002554 MONDO:0002366 True sympathetic neurilemmoma autonomic nervous system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002554 MONDO:0002546 True sympathetic neurilemmoma schwannoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002555 MONDO:0001420 True trigeminal schwannoma trigeminal nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002555 MONDO:0002546 True trigeminal schwannoma schwannoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002556 MONDO:0002546 True microcystic/reticular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002558 MONDO:0002546 True melanotic neurilemmoma schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002559 MONDO:0002546 True plexiform schwannoma schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002561 MONDO:0019052 True lysosomal storage disease inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002563 MONDO:0015064 True jejunal somatostatinoma jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002564 MONDO:0004251 True jejunal neoplasm small intestine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002565 MONDO:0002545 True myelitis spinal cord disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002567 MONDO:0004867 True tracheal disorder upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002568 MONDO:0002567 True tracheal stenosis tracheal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002569 MONDO:0004298 True gastric dilatation stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002570 MONDO:0002602 True high pressure neurological syndrome central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0000621 True primary central nervous system lymphoma immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0002714 True primary central nervous system lymphoma central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0003641 True primary central nervous system lymphoma central nervous system hematopoietic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0017207 True primary central nervous system lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0017343 True primary central nervous system lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002574 MONDO:0006389 True prostate embryonal rhabdomyosarcoma prostate rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002574 MONDO:0009993 True prostate embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002576 MONDO:0002577 True embryonal extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002576 MONDO:0009993 True embryonal extrahepatic bile duct rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002577 MONDO:0024658 True extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002578 MONDO:0009993 True botryoid rhabdomyosarcoma embryonal rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002579 MONDO:0002580 True orbit embryonal rhabdomyosarcoma orbit rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002579 MONDO:0009993 True orbit embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002580 MONDO:0004943 True orbit rhabdomyosarcoma orbit sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002580 MONDO:0005212 True orbit rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002581 MONDO:0005212 True spindle cell rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002583 MONDO:0005183 True mucinous ovarian cystadenoma ovarian cystadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002583 MONDO:0006859 True mucinous ovarian cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002585 MONDO:0005219 True breast fibrocystic change, proliferative type breast fibrocystic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002586 MONDO:0000621 True thymus cancer immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002586 MONDO:0005197 True thymus cancer thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002586 MONDO:0021069 True thymus cancer malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002587 MONDO:0006456 True encapsulated thymoma thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002588 MONDO:0006456 True thymoma type A thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002590 MONDO:0006456 True combined thymoma thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002592 MONDO:0006456 True invasive malignant thymoma thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002595 MONDO:0005108 True vaccinia viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002597 MONDO:0005564 True notochordal tumor embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002597 MONDO:0019060 True notochordal tumor bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002599 MONDO:0015864 True teratocarcinoma mixed germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002601 MONDO:0021656 True teratoma nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002602 MONDO:0005071 True central nervous system disorder nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002603 MONDO:0006359 True angiomyolipoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002604 MONDO:0002616 True pericytic neoplasm mesenchymal cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002605 MONDO:0002603 True hepatic angiomyolipoma angiomyolipoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002605 MONDO:0024477 True hepatic angiomyolipoma liver and intrahepatic bile duct neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002606 MONDO:0002603 True epithelioid type angiomyolipoma angiomyolipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002610 MONDO:0002243 True purpura hemorrhagic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002612 MONDO:0005384 True frontal lobe epilepsy focal epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002613 MONDO:0002028 True histrionic personality disorder personality disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002614 MONDO:0005381 True bone inflammation disease bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002615 MONDO:0019245 True xanthomatosis lysosomal lipid storage disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002616 MONDO:0005070 True mesenchymal cell neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002617 MONDO:0016982 True bone angiosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002617 MONDO:0021054 True bone angiosarcoma bone sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002617 MONDO:0024499 True bone angiosarcoma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002618 MONDO:0021054 True undifferentiated high grade pleomorphic sarcoma of bone bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002619 MONDO:0005164 True bone fibrosarcoma fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002619 MONDO:0021054 True bone fibrosarcoma bone sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002620 MONDO:0009807 True localized osteosarcoma osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002621 MONDO:0009807 True extraosseous osteosarcoma osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002621 MONDO:0018078 True extraosseous osteosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002622 MONDO:0009807 True multifocal osteogenic sarcoma osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002623 MONDO:0006517 True pediatric osteosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002623 MONDO:0009807 True pediatric osteosarcoma osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002624 MONDO:0005058 True bone leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002624 MONDO:0021054 True bone leiomyosarcoma bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002625 MONDO:0012817 True Ewing sarcoma of bone Ewing sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002625 MONDO:0021054 True Ewing sarcoma of bone bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002625 MONDO:0021123 True Ewing sarcoma of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002626 MONDO:0002633 True spinal accessory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002626 MONDO:0002636 True spinal accessory nerve neoplasm accessory nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002627 MONDO:0002631 True chondroblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002628 MONDO:0002629 True peripheral osteosarcoma bone osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002629 MONDO:0009807 True bone osteosarcoma osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002629 MONDO:0021054 True bone osteosarcoma bone sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002630 MONDO:0002129 True small cell osteogenic sarcoma bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002630 MONDO:0006974 True small cell osteogenic sarcoma small cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002631 MONDO:0002629 True conventional osteosarcoma bone osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002632 MONDO:0002629 True metachronous osteosarcoma of the bone bone osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002633 MONDO:0003569 True cranial nerve neoplasm cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002634 MONDO:0005060 True liposarcoma of bone liposarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002634 MONDO:0021054 True liposarcoma of bone bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002636 MONDO:0003569 True accessory nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002636 MONDO:0003620 True accessory nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002637 MONDO:0005833 True histiocytosis lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002638 MONDO:0002633 True glossopharyngeal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002638 MONDO:0002639 True glossopharyngeal nerve neoplasm glossopharyngeal nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002639 MONDO:0003569 True glossopharyngeal nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002639 MONDO:0003620 True glossopharyngeal nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002640 MONDO:0002135 True optic nerve neoplasm optic nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002640 MONDO:0002633 True optic nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002640 MONDO:0006130 True optic nerve neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002641 MONDO:0000473 True subclavian artery aneurysm arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002642 MONDO:0002633 True trochlear nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002642 MONDO:0007002 True trochlear nerve neoplasm trochlear nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002643 MONDO:0002467 True vestibular disorder inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002644 MONDO:0021167 True idiopathic granulomatous myositis myositis disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002645 MONDO:0005560 True cerebritis brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002646 MONDO:0004777 True viral laryngitis acute laryngitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002647 MONDO:0004382 True laryngitis laryngeal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002648 MONDO:0004988 True mammary Paget disease breast adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002648 MONDO:0021165 True mammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002649 MONDO:0002650 True scrotum Paget disease scrotal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002649 MONDO:0021165 True scrotum Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002650 MONDO:0004993 True scrotal carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002650 MONDO:0021112 True scrotal carcinoma scrotum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002651 MONDO:0002652 True anal Paget disease anus adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002651 MONDO:0008177 True anal Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002652 MONDO:0003199 True anus adenocarcinoma anal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002653 MONDO:0006360 True Paget disease of the penis penile carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002653 MONDO:0008177 True Paget disease of the penis extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002654 MONDO:0002263 True uterine disorder female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002655 MONDO:0002656 True cutaneous Paget disease skin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002656 MONDO:0002898 True skin carcinoma skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002656 MONDO:0004993 True skin carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002656 MONDO:0021634 True skin carcinoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002658 MONDO:0002659 True iris cancer uveal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002658 MONDO:0021224 True iris cancer iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002659 MONDO:0002236 True uveal cancer ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002659 MONDO:0021225 True uveal cancer uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002660 MONDO:0003382 True blepharochalasis eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002661 MONDO:0005328 True uveal disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002664 MONDO:0002665 True extrahepatic bile duct signet ring cell carcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002664 MONDO:0005092 True extrahepatic bile duct signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002665 MONDO:0003090 True extrahepatic bile duct adenocarcinoma extrahepatic bile duct carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002665 MONDO:0003193 True extrahepatic bile duct adenocarcinoma bile duct adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002666 MONDO:0005092 True pancreatic signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002666 MONDO:0005184 True pancreatic signet ring cell adenocarcinoma pancreatic ductal adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002667 MONDO:0005092 True gallbladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002667 MONDO:0006215 True gallbladder signet ring cell adenocarcinoma gallbladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002669 MONDO:0002670 True ampullary signet ring cell adenocarcinoma ampulla of vater adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002670 MONDO:0017590 True ampulla of vater adenocarcinoma carcinoma of the ampulla of vater SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002671 MONDO:0004988 True signet ring cell breast carcinoma breast adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002671 MONDO:0005092 True signet ring cell breast carcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002671 MONDO:0006256 True signet ring cell breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002672 MONDO:0002493 True acinar prostate adenocarcinoma, signet ring variant prostatic acinar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002672 MONDO:0005092 True acinar prostate adenocarcinoma, signet ring variant signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002674 MONDO:0005240 True stricture or kinking of ureter kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002675 MONDO:0016755 True neurofibrosarcoma neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002677 MONDO:0005164 True conventional fibrosarcoma fibrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002678 MONDO:0005164 True pediatric fibrosarcoma fibrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002678 MONDO:0006517 True pediatric fibrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002679 MONDO:0005394 True cerebral infarction brain infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002681 MONDO:0002682 True choroid plexus cancer cerebral ventricle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002681 MONDO:0016717 True choroid plexus cancer choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002682 MONDO:0001657 True cerebral ventricle cancer brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002683 MONDO:0016717 True adult choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002684 MONDO:0016717 True atypical choroid plexus papilloma choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002685 MONDO:0002071 True childhood choroid plexus carcinoma supratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002685 MONDO:0006517 True childhood choroid plexus carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002685 MONDO:0016718 True childhood choroid plexus carcinoma choroid plexus carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002685 MONDO:0024744 True childhood choroid plexus carcinoma childhood choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002687 MONDO:0002688 True superior mesenteric artery syndrome duodenal obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002688 MONDO:0002866 True duodenal obstruction duodenal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002691 MONDO:0002516 True liver cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002691 MONDO:0021069 True liver cancer malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002691 MONDO:0024477 True liver cancer liver and intrahepatic bile duct neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002692 MONDO:0002907 True intracranial sinus thrombosis intracranial thrombosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002693 MONDO:0002692 True lateral sinus thrombosis intracranial sinus thrombosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002694 MONDO:0002692 True cavernous sinus thrombosis intracranial sinus thrombosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002695 MONDO:0002692 True sagittal sinus thrombosis intracranial sinus thrombosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002696 MONDO:0006055 True Sertoli cell tumor sex cord-stromal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002697 MONDO:0010768 True ovarian gonadoblastoma gonadoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002698 MONDO:0010768 True testicular gonadoblastoma gonadoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002701 MONDO:0002702 True ovarian mucinous cystadenocarcinoma ovarian cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002701 MONDO:0005601 True ovarian mucinous cystadenocarcinoma ovarian mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002701 MONDO:0005858 True ovarian mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002702 MONDO:0002752 True ovarian cystadenocarcinoma ovarian adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002702 MONDO:0005596 True ovarian cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002703 MONDO:0005858 True appendix mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002703 MONDO:0018330 True appendix mucinous cystadenocarcinoma mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002705 MONDO:0004988 True breast mucinous cystadenocarcinoma breast adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002705 MONDO:0005858 True breast mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002706 MONDO:0002256 True cervix endometriosis cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002707 MONDO:0004957 True breast mucinous carcinoma mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002708 MONDO:0005283 True retinitis retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002710 MONDO:0006085 True infiltrating angiolipoma angiolipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002712 MONDO:0002713 True epidural spinal canal angiolipoma epidural spinal canal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002712 MONDO:0006085 True epidural spinal canal angiolipoma angiolipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002713 MONDO:0005070 True epidural spinal canal neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002714 MONDO:0005872 True central nervous system cancer nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002714 MONDO:0006130 True central nervous system cancer central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002715 MONDO:0001416 True uterine cancer female reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002715 MONDO:0021353 True uterine cancer tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002716 MONDO:0021079 True childhood spinal cord tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002716 MONDO:0021234 True childhood spinal cord tumor spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002717 MONDO:0002718 True spinal cord intramedullary teratoma central nervous system teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002718 MONDO:0002601 True central nervous system teratoma teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002718 MONDO:0019500 True central nervous system teratoma extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002718 MONDO:0020574 True central nervous system teratoma central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002719 MONDO:0021234 True conus medullaris neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002720 MONDO:0002785 True sella turcica neoplasm skull base neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002721 MONDO:0003381 True necrosis of pituitary pituitary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002722 MONDO:0002633 True olfactory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002722 MONDO:0002727 True olfactory nerve neoplasm olfactory nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002724 MONDO:0005170 True mast cell neoplasm myeloid neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002726 MONDO:0002724 True cutaneous solitary mastocytoma mast cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002727 MONDO:0003569 True olfactory nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002727 MONDO:0003620 True olfactory nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002728 MONDO:0005564 True rhabdoid tumor embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002728 MONDO:0018078 True rhabdoid tumor soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002729 MONDO:0002728 True rhabdoid tumor of the kidney rhabdoid tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002730 MONDO:0021079 True childhood kidney neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002730 MONDO:0021163 True childhood kidney neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002731 MONDO:0002071 True cerebral hemisphere cancer supratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002731 MONDO:0021374 True cerebral hemisphere cancer neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002732 MONDO:0000382 True lung benign neoplasm respiratory system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002732 MONDO:0000634 True lung benign neoplasm thoracic benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002732 MONDO:0021117 True lung benign neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002734 MONDO:0002652 True anal mucinous adenocarcinoma anus adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002735 MONDO:0002652 True anal canal adenocarcinoma anus adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002735 MONDO:0007108 True anal canal adenocarcinoma anal canal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002736 MONDO:0002670 True ampulla of vater mucinous adenocarcinoma ampulla of vater adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002737 MONDO:0002738 True acute sanguinous otitis media acute transudative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002738 MONDO:0001212 True acute transudative otitis media non-suppurative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002739 MONDO:0002665 True extrahepatic bile duct mucinous adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002739 MONDO:0004957 True extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002740 MONDO:0002741 True uterine ligament mucinous adenocarcinoma uterine ligament adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002741 MONDO:0003612 True uterine ligament adenocarcinoma uterine ligament cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002742 MONDO:0004957 True cervical mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002742 MONDO:0005153 True cervical mucinous adenocarcinoma cervical adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002744 MONDO:0002745 True fallopian tube mucinous adenocarcinoma fallopian tube mucinous tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002744 MONDO:0002746 True fallopian tube mucinous adenocarcinoma fallopian tube adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002744 MONDO:0004957 True fallopian tube mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002745 MONDO:0021092 True fallopian tube mucinous tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002745 MONDO:0024338 True fallopian tube mucinous tumor mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002746 MONDO:0004970 True fallopian tube adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002746 MONDO:0006206 True fallopian tube adenocarcinoma fallopian tube carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002747 MONDO:0004957 True endometrial mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002747 MONDO:0005461 True endometrial mucinous adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002748 MONDO:0002169 True rectum mucinous adenocarcinoma rectum adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002748 MONDO:0004957 True rectum mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002749 MONDO:0005072 True extracranial neuroblastoma neuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002750 MONDO:0002751 True bladder colloid adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002751 MONDO:0004970 True bladder adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002751 MONDO:0004986 True bladder adenocarcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002752 MONDO:0004970 True ovarian adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002752 MONDO:0005140 True ovarian adenocarcinoma ovarian carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002754 MONDO:0005615 True extramedullary plasmacytoma plasmacytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002755 MONDO:0005615 True solitary osseous plasmacytoma plasmacytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002756 MONDO:0000621 True solitary plasmacytoma of chest wall immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002756 MONDO:0005615 True solitary plasmacytoma of chest wall plasmacytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002757 MONDO:0002737 True acute allergic sanguinous otitis media acute sanguinous otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002758 MONDO:0006006 True vulva verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002758 MONDO:0024609 True vulva verrucous carcinoma vulvar squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002759 MONDO:0002760 True bladder verrucous carcinoma bladder squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002759 MONDO:0006006 True bladder verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002760 MONDO:0004986 True bladder squamous cell carcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002760 MONDO:0005096 True bladder squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002761 MONDO:0006006 True cervical verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002761 MONDO:0006143 True cervical verrucous carcinoma cervical squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002762 MONDO:0005580 True esophagus verrucous carcinoma esophageal squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002762 MONDO:0006006 True esophagus verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002763 MONDO:0002764 True urethral verrucous carcinoma urethra squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002763 MONDO:0006006 True urethral verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002764 MONDO:0005096 True urethra squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002764 MONDO:0021327 True urethra squamous cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002765 MONDO:0002529 True plantar verrucous skin carcinoma skin squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002765 MONDO:0006006 True plantar verrucous skin carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002766 MONDO:0005595 True larynx verrucous carcinoma laryngeal squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002766 MONDO:0006006 True larynx verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002768 MONDO:0002145 True true hermaphroditism disorder of sexual differentiation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002769 MONDO:0002770 True leukorrhea vaginal discharge SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002770 MONDO:0001433 True vaginal discharge vaginal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002771 MONDO:0015925 True pulmonary fibrosis interstitial lung disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002772 MONDO:0002682 True intraventricular meningioma cerebral ventricle cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002775 MONDO:0005558 True anovulation ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002468 MONDO:0002211 True hyperimmunoglobulin syndrome B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002469 MONDO:0002463 True lacrimal gland carcinoma ex pleomorphic adenoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002469 MONDO:0002472 True lacrimal gland carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002470 MONDO:0018053 True photosensitive trichothiodystrophy trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002471 MONDO:0006816 True bursitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002472 MONDO:0004993 True carcinoma ex pleomorphic adenoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002472 MONDO:0005853 True carcinoma ex pleomorphic adenoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002473 MONDO:0005240 True cystic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002474 MONDO:0019214 True primary hyperoxaluria inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002475 MONDO:0002463 True lacrimal gland adenocarcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002475 MONDO:0004970 True lacrimal gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002476 MONDO:0005240 True anuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002477 MONDO:0019496 True prostate neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002477 MONDO:0021259 True prostate neuroendocrine neoplasm prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002478 MONDO:0021043 True mixed germ cell-sex cord-stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002480 MONDO:0005626 True endometrioid tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002481 MONDO:0008170 True ovarian neuroendocrine neoplasm ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002481 MONDO:0019496 True ovarian neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002481 MONDO:0021069 True ovarian neuroendocrine neoplasm malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002482 MONDO:0021100 True nipple neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002483 MONDO:0002380 True breast myoepithelial tumor myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002483 MONDO:0021100 True breast myoepithelial tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002485 MONDO:0019496 True breast neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002485 MONDO:0021100 True breast neuroendocrine neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002486 MONDO:0004658 True lobular neoplasia breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002487 MONDO:0006235 True breast granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002487 MONDO:0021100 True breast granular cell tumor breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002488 MONDO:0021100 True intraductal breast neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002489 MONDO:0007254 True malignant breast phyllodes tumor breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002489 MONDO:0021047 True malignant breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002489 MONDO:0037003 True malignant breast phyllodes tumor malignant phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002490 MONDO:0007254 True breast sarcoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002490 MONDO:0018078 True breast sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002491 MONDO:0002494 True substance abuse substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002492 MONDO:0001106 True acute kidney failure kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002493 MONDO:0004965 True prostatic acinar adenocarcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002493 MONDO:0005082 True prostatic acinar adenocarcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002494 MONDO:0002025 True substance-related disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002495 MONDO:0002271 True colon signet ring cell adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002495 MONDO:0044336 True colon signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002496 MONDO:0002271 True submucosal invasive colon adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002496 MONDO:0040677 True submucosal invasive colon adenocarcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002501 MONDO:0005499 True brain glioblastoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002501 MONDO:0018177 True brain glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002503 MONDO:0021636 True adult astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002505 MONDO:0021079 True childhood astrocytic tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002505 MONDO:0021636 True childhood astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002507 MONDO:0002021 True gingival overgrowth gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002508 MONDO:0002021 True gingivitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002511 MONDO:0001854 True stenosis of lacrimal sac lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002512 MONDO:0004970 True papillary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002512 MONDO:0006509 True papillary adenocarcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002513 MONDO:0004180 True kidney benign neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002513 MONDO:0021163 True kidney benign neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002514 MONDO:0002515 True hepatobiliary neoplasm hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002514 MONDO:0021223 True hepatobiliary neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002515 MONDO:0004335 True hepatobiliary disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002516 MONDO:0004335 True digestive system cancer digestive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002516 MONDO:0004992 True digestive system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002516 MONDO:0021223 True digestive system cancer digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002517 MONDO:0004855 True tenosynovitis of foot and ankle tenosynovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002518 MONDO:0021096 True gallbladder papillary neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002518 MONDO:0021253 True gallbladder papillary neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002519 MONDO:0001593 True anus disorder rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002522 MONDO:0002171 True tenosynovial giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002522 MONDO:0002528 True tenosynovial giant cell tumor synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002525 MONDO:0019052 True inherited lipid metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002526 MONDO:0003155 True dermal unilateral segmental cavernous angioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002527 MONDO:0021634 True keratoacanthoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002528 MONDO:0006424 True synovium neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002529 MONDO:0002656 True skin squamous cell carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002529 MONDO:0005096 True skin squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002531 MONDO:0005070 True skin neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002531 MONDO:0005093 True skin neoplasm skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002532 MONDO:0005626 True squamous cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002533 MONDO:0004972 True papillary adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002533 MONDO:0021096 True papillary adenoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002534 MONDO:0000645 True fallopian tube papilloma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002534 MONDO:0002363 True fallopian tube papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002535 MONDO:0002363 True verrucous papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002536 MONDO:0002363 True skin papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002536 MONDO:0024666 True skin papilloma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002537 MONDO:0002363 True inverted papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002540 MONDO:0016695 True childhood oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002541 MONDO:0002542 True spinal cord oligodendroglioma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002541 MONDO:0016695 True spinal cord oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002542 MONDO:0003544 True spinal cord glioma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002542 MONDO:0100342 True spinal cord glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002543 MONDO:0016695 True adult oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002544 MONDO:0005499 True brain oligodendroglioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002544 MONDO:0016695 True brain oligodendroglioma oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002545 MONDO:0002602 True spinal cord disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002546 MONDO:0002547 True schwannoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002546 MONDO:0016752 True schwannoma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002547 MONDO:0001406 True nerve sheath neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002548 MONDO:0002546 True cellular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002549 MONDO:0002546 True schwannoma of twelfth cranial nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002549 MONDO:0002550 True schwannoma of twelfth cranial nerve hypoglossal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002550 MONDO:0001810 True hypoglossal nerve neoplasm hypoglossal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002550 MONDO:0002633 True hypoglossal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002551 MONDO:0002553 True c-P angle neurinoma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002552 MONDO:0002545 True vascular myelopathy spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002553 MONDO:0021211 True cerebellopontine angle tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002554 MONDO:0002366 True sympathetic neurilemmoma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002554 MONDO:0002546 True sympathetic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002555 MONDO:0001420 True trigeminal schwannoma trigeminal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002555 MONDO:0002546 True trigeminal schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002556 MONDO:0002546 True microcystic/reticular schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002558 MONDO:0002546 True melanotic neurilemmoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002559 MONDO:0002546 True plexiform schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002561 MONDO:0019052 True lysosomal storage disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002563 MONDO:0015064 True jejunal somatostatinoma jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002564 MONDO:0004251 True jejunal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002565 MONDO:0002545 True myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002567 MONDO:0004867 True tracheal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002568 MONDO:0002567 True tracheal stenosis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002569 MONDO:0004298 True gastric dilatation stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002570 MONDO:0002602 True high pressure neurological syndrome central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0000621 True primary central nervous system lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0002714 True primary central nervous system lymphoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0003641 True primary central nervous system lymphoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002571 MONDO:0017207 True primary central nervous system lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002571 MONDO:0017343 True primary central nervous system lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002574 MONDO:0006389 True prostate embryonal rhabdomyosarcoma prostate rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002574 MONDO:0009993 True prostate embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002576 MONDO:0002577 True embryonal extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002576 MONDO:0009993 True embryonal extrahepatic bile duct rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002577 MONDO:0024658 True extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002578 MONDO:0009993 True botryoid rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002579 MONDO:0002580 True orbit embryonal rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002579 MONDO:0009993 True orbit embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002580 MONDO:0004943 True orbit rhabdomyosarcoma orbit sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002580 MONDO:0005212 True orbit rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002581 MONDO:0005212 True spindle cell rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002583 MONDO:0005183 True mucinous ovarian cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002583 MONDO:0006859 True mucinous ovarian cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002585 MONDO:0005219 True breast fibrocystic change, proliferative type breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002586 MONDO:0000621 True thymus cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002586 MONDO:0005197 True thymus cancer thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002586 MONDO:0021069 True thymus cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002587 MONDO:0006456 True encapsulated thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002588 MONDO:0006456 True thymoma type A thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002590 MONDO:0006456 True combined thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002592 MONDO:0006456 True invasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002595 MONDO:0005108 True vaccinia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002597 MONDO:0005564 True notochordal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002597 MONDO:0019060 True notochordal tumor bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002599 MONDO:0015864 True teratocarcinoma mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002601 MONDO:0021656 True teratoma nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002602 MONDO:0005071 True central nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002603 MONDO:0006359 True angiomyolipoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002604 MONDO:0002616 True pericytic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002605 MONDO:0002603 True hepatic angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002605 MONDO:0024477 True hepatic angiomyolipoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002606 MONDO:0002603 True epithelioid type angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002610 MONDO:0002243 True purpura hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002612 MONDO:0005384 True frontal lobe epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002613 MONDO:0002028 True histrionic personality disorder personality disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002614 MONDO:0005381 True bone inflammation disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002615 MONDO:0019245 True xanthomatosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002616 MONDO:0005070 True mesenchymal cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002617 MONDO:0016982 True bone angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002617 MONDO:0021054 True bone angiosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002617 MONDO:0024499 True bone angiosarcoma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002618 MONDO:0021054 True undifferentiated high grade pleomorphic sarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002619 MONDO:0005164 True bone fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002619 MONDO:0021054 True bone fibrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002620 MONDO:0009807 True localized osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002621 MONDO:0009807 True extraosseous osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002621 MONDO:0018078 True extraosseous osteosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002622 MONDO:0009807 True multifocal osteogenic sarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002623 MONDO:0006517 True pediatric osteosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002623 MONDO:0009807 True pediatric osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002624 MONDO:0005058 True bone leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002624 MONDO:0021054 True bone leiomyosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002625 MONDO:0012817 True Ewing sarcoma of bone Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002625 MONDO:0021054 True Ewing sarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002625 MONDO:0021123 True Ewing sarcoma of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002626 MONDO:0002633 True spinal accessory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002626 MONDO:0002636 True spinal accessory nerve neoplasm accessory nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002627 MONDO:0002631 True chondroblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002628 MONDO:0002629 True peripheral osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002629 MONDO:0009807 True bone osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002629 MONDO:0021054 True bone osteosarcoma bone sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002630 MONDO:0002129 True small cell osteogenic sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002630 MONDO:0006974 True small cell osteogenic sarcoma small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002631 MONDO:0002629 True conventional osteosarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002632 MONDO:0002629 True metachronous osteosarcoma of the bone bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002633 MONDO:0003569 True cranial nerve neoplasm cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002634 MONDO:0005060 True liposarcoma of bone liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002634 MONDO:0021054 True liposarcoma of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002636 MONDO:0003569 True accessory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002636 MONDO:0003620 True accessory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002637 MONDO:0005833 True histiocytosis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002638 MONDO:0002633 True glossopharyngeal nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002638 MONDO:0002639 True glossopharyngeal nerve neoplasm glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002639 MONDO:0003569 True glossopharyngeal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002639 MONDO:0003620 True glossopharyngeal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002640 MONDO:0002135 True optic nerve neoplasm optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002640 MONDO:0002633 True optic nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002640 MONDO:0006130 True optic nerve neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002641 MONDO:0000473 True subclavian artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002642 MONDO:0002633 True trochlear nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002642 MONDO:0007002 True trochlear nerve neoplasm trochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002643 MONDO:0002467 True vestibular disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002644 MONDO:0021167 True idiopathic granulomatous myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002645 MONDO:0005560 True cerebritis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002646 MONDO:0004777 True viral laryngitis acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002647 MONDO:0004382 True laryngitis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002648 MONDO:0004988 True mammary Paget disease breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002648 MONDO:0021165 True mammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002649 MONDO:0002650 True scrotum Paget disease scrotal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002649 MONDO:0021165 True scrotum Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002650 MONDO:0004993 True scrotal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002650 MONDO:0021112 True scrotal carcinoma scrotum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002651 MONDO:0002652 True anal Paget disease anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002651 MONDO:0008177 True anal Paget disease extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002652 MONDO:0003199 True anus adenocarcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002653 MONDO:0006360 True Paget disease of the penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002653 MONDO:0008177 True Paget disease of the penis extramammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002654 MONDO:0002263 True uterine disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002655 MONDO:0002656 True cutaneous Paget disease skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002656 MONDO:0002898 True skin carcinoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002656 MONDO:0004993 True skin carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002656 MONDO:0021634 True skin carcinoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002658 MONDO:0002659 True iris cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002658 MONDO:0021224 True iris cancer iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002659 MONDO:0002236 True uveal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002659 MONDO:0021225 True uveal cancer uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002660 MONDO:0003382 True blepharochalasis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002661 MONDO:0005328 True uveal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002664 MONDO:0002665 True extrahepatic bile duct signet ring cell carcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002664 MONDO:0005092 True extrahepatic bile duct signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002665 MONDO:0003090 True extrahepatic bile duct adenocarcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002665 MONDO:0003193 True extrahepatic bile duct adenocarcinoma bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002666 MONDO:0005092 True pancreatic signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002666 MONDO:0005184 True pancreatic signet ring cell adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002667 MONDO:0005092 True gallbladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002667 MONDO:0006215 True gallbladder signet ring cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002669 MONDO:0002670 True ampullary signet ring cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002670 MONDO:0017590 True ampulla of vater adenocarcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002671 MONDO:0004988 True signet ring cell breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002671 MONDO:0005092 True signet ring cell breast carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002671 MONDO:0006256 True signet ring cell breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002672 MONDO:0002493 True acinar prostate adenocarcinoma, signet ring variant prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002672 MONDO:0005092 True acinar prostate adenocarcinoma, signet ring variant signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002674 MONDO:0005240 True stricture or kinking of ureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002675 MONDO:0016755 True neurofibrosarcoma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002677 MONDO:0005164 True conventional fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002678 MONDO:0005164 True pediatric fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002678 MONDO:0006517 True pediatric fibrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002679 MONDO:0005394 True cerebral infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002681 MONDO:0002682 True choroid plexus cancer cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002681 MONDO:0016717 True choroid plexus cancer choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002682 MONDO:0001657 True cerebral ventricle cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002683 MONDO:0016717 True adult choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002684 MONDO:0016717 True atypical choroid plexus papilloma choroid plexus neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002685 MONDO:0002071 True childhood choroid plexus carcinoma supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002685 MONDO:0006517 True childhood choroid plexus carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002685 MONDO:0016718 True childhood choroid plexus carcinoma choroid plexus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002685 MONDO:0024744 True childhood choroid plexus carcinoma childhood choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002687 MONDO:0002688 True superior mesenteric artery syndrome duodenal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002688 MONDO:0002866 True duodenal obstruction duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002691 MONDO:0002516 True liver cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002691 MONDO:0021069 True liver cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002691 MONDO:0024477 True liver cancer liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002692 MONDO:0002907 True intracranial sinus thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002693 MONDO:0002692 True lateral sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002694 MONDO:0002692 True cavernous sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002695 MONDO:0002692 True sagittal sinus thrombosis intracranial sinus thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002696 MONDO:0006055 True Sertoli cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002697 MONDO:0010768 True ovarian gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002698 MONDO:0010768 True testicular gonadoblastoma gonadoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002701 MONDO:0002702 True ovarian mucinous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002701 MONDO:0005601 True ovarian mucinous cystadenocarcinoma ovarian mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002701 MONDO:0005858 True ovarian mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002702 MONDO:0002752 True ovarian cystadenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002702 MONDO:0005596 True ovarian cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002703 MONDO:0005858 True appendix mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002703 MONDO:0018330 True appendix mucinous cystadenocarcinoma mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002705 MONDO:0004988 True breast mucinous cystadenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002705 MONDO:0005858 True breast mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002706 MONDO:0002256 True cervix endometriosis cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002707 MONDO:0004957 True breast mucinous carcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002708 MONDO:0005283 True retinitis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002710 MONDO:0006085 True infiltrating angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002712 MONDO:0002713 True epidural spinal canal angiolipoma epidural spinal canal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002712 MONDO:0006085 True epidural spinal canal angiolipoma angiolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002713 MONDO:0005070 True epidural spinal canal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002714 MONDO:0005872 True central nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002714 MONDO:0006130 True central nervous system cancer central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002715 MONDO:0001416 True uterine cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002715 MONDO:0021353 True uterine cancer tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002716 MONDO:0021079 True childhood spinal cord tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002716 MONDO:0021234 True childhood spinal cord tumor spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002717 MONDO:0002718 True spinal cord intramedullary teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002718 MONDO:0002601 True central nervous system teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002718 MONDO:0019500 True central nervous system teratoma extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002718 MONDO:0020574 True central nervous system teratoma central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002719 MONDO:0021234 True conus medullaris neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002720 MONDO:0002785 True sella turcica neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002721 MONDO:0003381 True necrosis of pituitary pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002722 MONDO:0002633 True olfactory nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002722 MONDO:0002727 True olfactory nerve neoplasm olfactory nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002724 MONDO:0005170 True mast cell neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002726 MONDO:0002724 True cutaneous solitary mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002727 MONDO:0003569 True olfactory nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002727 MONDO:0003620 True olfactory nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002728 MONDO:0005564 True rhabdoid tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002728 MONDO:0018078 True rhabdoid tumor soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002729 MONDO:0002728 True rhabdoid tumor of the kidney rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002730 MONDO:0021079 True childhood kidney neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002730 MONDO:0021163 True childhood kidney neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002731 MONDO:0002071 True cerebral hemisphere cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002731 MONDO:0021374 True cerebral hemisphere cancer neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002732 MONDO:0000382 True lung benign neoplasm respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002732 MONDO:0000634 True lung benign neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002732 MONDO:0021117 True lung benign neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002734 MONDO:0002652 True anal mucinous adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002735 MONDO:0002652 True anal canal adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002735 MONDO:0007108 True anal canal adenocarcinoma anal canal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002736 MONDO:0002670 True ampulla of vater mucinous adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002737 MONDO:0002738 True acute sanguinous otitis media acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002738 MONDO:0001212 True acute transudative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002739 MONDO:0002665 True extrahepatic bile duct mucinous adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002739 MONDO:0004957 True extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002740 MONDO:0002741 True uterine ligament mucinous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002741 MONDO:0003612 True uterine ligament adenocarcinoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002742 MONDO:0004957 True cervical mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002742 MONDO:0005153 True cervical mucinous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002744 MONDO:0002745 True fallopian tube mucinous adenocarcinoma fallopian tube mucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002744 MONDO:0002746 True fallopian tube mucinous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002744 MONDO:0004957 True fallopian tube mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002745 MONDO:0021092 True fallopian tube mucinous tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002745 MONDO:0024338 True fallopian tube mucinous tumor mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002746 MONDO:0004970 True fallopian tube adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002746 MONDO:0006206 True fallopian tube adenocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002747 MONDO:0004957 True endometrial mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002747 MONDO:0005461 True endometrial mucinous adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002748 MONDO:0002169 True rectum mucinous adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002748 MONDO:0004957 True rectum mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002749 MONDO:0005072 True extracranial neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002750 MONDO:0002751 True bladder colloid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002751 MONDO:0004970 True bladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002751 MONDO:0004986 True bladder adenocarcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002752 MONDO:0004970 True ovarian adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002752 MONDO:0005140 True ovarian adenocarcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002754 MONDO:0005615 True extramedullary plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002755 MONDO:0005615 True solitary osseous plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002756 MONDO:0000621 True solitary plasmacytoma of chest wall immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002756 MONDO:0005615 True solitary plasmacytoma of chest wall plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002757 MONDO:0002737 True acute allergic sanguinous otitis media acute sanguinous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002758 MONDO:0006006 True vulva verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002758 MONDO:0024609 True vulva verrucous carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002759 MONDO:0002760 True bladder verrucous carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002759 MONDO:0006006 True bladder verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002760 MONDO:0004986 True bladder squamous cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002760 MONDO:0005096 True bladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002761 MONDO:0006006 True cervical verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002761 MONDO:0006143 True cervical verrucous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002762 MONDO:0005580 True esophagus verrucous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002762 MONDO:0006006 True esophagus verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002763 MONDO:0002764 True urethral verrucous carcinoma urethra squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002763 MONDO:0006006 True urethral verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002764 MONDO:0005096 True urethra squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002764 MONDO:0021327 True urethra squamous cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002765 MONDO:0002529 True plantar verrucous skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002765 MONDO:0006006 True plantar verrucous skin carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002766 MONDO:0005595 True larynx verrucous carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002766 MONDO:0006006 True larynx verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002768 MONDO:0002145 True true hermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002769 MONDO:0002770 True leukorrhea vaginal discharge UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002770 MONDO:0001433 True vaginal discharge vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002771 MONDO:0015925 True pulmonary fibrosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002772 MONDO:0002682 True intraventricular meningioma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002775 MONDO:0005558 True anovulation ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002776 MONDO:0002409 True external ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002778 MONDO:0001279 True epidural spinal canal meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002779 MONDO:0000628 True central nervous system chondroma central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002779 MONDO:0006423 True central nervous system chondroma soft tissue chondroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002781 MONDO:0002639 True glossopharyngeal nerve paralysis glossopharyngeal nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002781 MONDO:0002782 True glossopharyngeal nerve paralysis cranial nerve palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002782 MONDO:0003569 True cranial nerve palsy cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002783 MONDO:0018882 True Shwartzman phenomenon vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002785 MONDO:0024653 True skull base neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002786 MONDO:0002071 True diencephalic cancer supratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002787 MONDO:0018907 True adamantinous craniopharyngioma craniopharyngioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002788 MONDO:0018907 True papillary craniopharyngioma craniopharyngioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002789 MONDO:0002604 True hemangiopericytic tumor pericytic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002791 MONDO:0007959 True large cell medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002792 MONDO:0007959 True cerebellar vermis medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002794 MONDO:0003260 True adult medulloblastoma adult cerebellar neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002794 MONDO:0007959 True adult medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002795 MONDO:0000640 True adult central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002796 MONDO:0007959 True melanotic medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002797 MONDO:0003263 True childhood medulloblastoma childhood cerebellar neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002797 MONDO:0007959 True childhood medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002798 MONDO:0000640 True childhood central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002798 MONDO:0006517 True childhood central nervous system primitive neuroectodermal neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002799 MONDO:0007959 True nodular medulloblastoma medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002800 MONDO:0004625 True thrombophlebitis phlebitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002801 MONDO:0002802 True colonic pseudo-obstruction functional colonic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002802 MONDO:0003409 True functional colonic disease colonic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002804 MONDO:0003686 True apocrine adenoma apocrine sweat gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002805 MONDO:0021110 True hidradenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002806 MONDO:0001672 True bronchogenic carcinoma bronchus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002806 MONDO:0005138 True bronchogenic carcinoma lung carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002807 MONDO:0001358 True bronchial neoplasm bronchial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002808 MONDO:0002809 True pancreatic serous cystadenoma pancreatic cystadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002808 MONDO:0005177 True pancreatic serous cystadenoma serous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002809 MONDO:0002369 True pancreatic cystadenoma cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002809 MONDO:0021076 True pancreatic cystadenoma pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002810 MONDO:0021076 True pancreatic serous cystic neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002814 MONDO:0002817 True adrenal carcinoma adrenal gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002815 MONDO:0004496 True acute myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002816 MONDO:0005495 True adrenal cortex disorder adrenal gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002817 MONDO:0005941 True adrenal gland cancer retroperitoneal cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002817 MONDO:0021069 True adrenal gland cancer malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002817 MONDO:0021227 True adrenal gland cancer adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002821 MONDO:0005034 True trabecular follicular adenocarcinoma thyroid gland follicular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002822 MONDO:0004970 True trabecular adenocarcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002824 MONDO:0004994 True extrinsic cardiomyopathy cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002828 MONDO:0002829 True Bartholin gland transitional cell carcinoma bartholin gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002828 MONDO:0006474 True Bartholin gland transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002829 MONDO:0005215 True bartholin gland carcinoma vulvar carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002829 MONDO:0021114 True bartholin gland carcinoma Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002831 MONDO:0044787 True non-keratinizing sinonasal squamous cell carcinoma nasal cavity and paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002832 MONDO:0002447 True endometrial transitional cell carcinoma endometrial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002832 MONDO:0006474 True endometrial transitional cell carcinoma transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002833 MONDO:0006206 True fallopian tube transitional cell carcinoma fallopian tube carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002833 MONDO:0006474 True fallopian tube transitional cell carcinoma transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002834 MONDO:0005159 True primary prostate urothelial carcinoma prostate carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002834 MONDO:0006474 True primary prostate urothelial carcinoma transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002836 MONDO:0021327 True urethra transitional cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002836 MONDO:0040679 True urethra transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002837 MONDO:0006406 True sarcomatoid transitional cell carcinoma sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002839 MONDO:0004298 True leather-bottle stomach stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002842 MONDO:0005113 True bacterial gastritis bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002843 MONDO:0002041 True fungal gastritis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002843 MONDO:0004966 True fungal gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002844 MONDO:0004966 True lymphocytic gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002845 MONDO:0004966 True necrotizing gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002846 MONDO:0004966 True granulomatous gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002847 MONDO:0002848 True skeletal muscle cancer skeletal muscle neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002847 MONDO:0005864 True skeletal muscle cancer muscle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002848 MONDO:0005070 True skeletal muscle neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002849 MONDO:0002397 True liver rhabdomyosarcoma liver sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002849 MONDO:0005212 True liver rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002850 MONDO:0002217 True central nervous system rhabdomyosarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002850 MONDO:0005212 True central nervous system rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002851 MONDO:0002852 True mediastinum rhabdomyosarcoma mediastinum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002851 MONDO:0005212 True mediastinum rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002852 MONDO:0018078 True mediastinum sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002852 MONDO:0037743 True mediastinum sarcoma mediastinal soft tissue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002853 MONDO:0002168 True rectum rhabdomyosarcoma rectum sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002853 MONDO:0005212 True rectum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002854 MONDO:0008315 True prostate sarcoma prostate cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002854 MONDO:0018078 True prostate sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002855 MONDO:0005089 True ectomesenchymoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002855 MONDO:0005872 True ectomesenchymoma nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002856 MONDO:0002857 True gallbladder rhabdomyosarcoma gallbladder sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002856 MONDO:0005212 True gallbladder rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002857 MONDO:0005411 True gallbladder sarcoma gallbladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002857 MONDO:0018078 True gallbladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002858 MONDO:0002225 True ovary rhabdomyosarcoma ovarian sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002858 MONDO:0005212 True ovary rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002859 MONDO:0002490 True breast rhabdomyosarcoma breast sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002859 MONDO:0005212 True breast rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002860 MONDO:0002861 True testis rhabdomyosarcoma testis sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002860 MONDO:0005212 True testis rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002861 MONDO:0005447 True testis sarcoma testicular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002861 MONDO:0018078 True testis sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002862 MONDO:0003059 True bile duct sarcoma bile duct cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002863 MONDO:0005212 True rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002864 MONDO:0002865 True anus rhabdomyosarcoma anus sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002865 MONDO:0001879 True anus sarcoma anus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002865 MONDO:0018078 True anus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002867 MONDO:0005596 True pancreatic cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002867 MONDO:0006047 True pancreatic cystadenocarcinoma pancreatic adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002868 MONDO:0003420 True bile duct mucinous cystic neoplasm with an associated invasive carcinoma bile duct cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002869 MONDO:0005267 True heart valve disorder heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002870 MONDO:0000471 True tricuspid valve insufficiency tricuspid valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002871 MONDO:0002872 True testicular trophoblastic tumor trophoblastic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002871 MONDO:0006447 True testicular trophoblastic tumor testicular non-seminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002872 MONDO:0005070 True trophoblastic neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002874 MONDO:0010108 True testicular pure germ cell tumor testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002876 MONDO:0005636 True cervical adenosarcoma adenosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002876 MONDO:0016277 True cervical adenosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002877 MONDO:0006485 True cervical carcinosarcoma uterine carcinosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002877 MONDO:0016277 True cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002878 MONDO:0002879 True uterine corpus adenosarcoma uterine body mixed cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002878 MONDO:0005636 True uterine corpus adenosarcoma adenosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002879 MONDO:0005853 True uterine body mixed cancer malignant mixed neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002879 MONDO:0006003 True uterine body mixed cancer uterine corpus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002879 MONDO:0016255 True uterine body mixed cancer uterine corpus mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002880 MONDO:0005636 True ovarian adenosarcoma adenosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002880 MONDO:0008170 True ovarian adenosarcoma ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002881 MONDO:0001402 True vaginal adenosarcoma vaginal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002881 MONDO:0005636 True vaginal adenosarcoma adenosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002882 MONDO:0002883 True colon neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002882 MONDO:0005401 True colon neuroendocrine neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002883 MONDO:0021118 True intestinal neuroendocrine neoplasm intestinal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002883 MONDO:0024503 True intestinal neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002884 MONDO:0002051 True nail disorder integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002885 MONDO:0002922 True erythrasma pyoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0002886 MONDO:0002887 True common bile duct disorder bile duct disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002887 MONDO:0004868 True bile duct disorder biliary tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002888 MONDO:0016642 True intraorbital meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002888 MONDO:0024611 True intraorbital meningioma orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002889 MONDO:0024611 True orbital cancer orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002892 MONDO:0002785 True skull base chordoma skull base neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002892 MONDO:0008978 True skull base chordoma chordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002894 MONDO:0008978 True spinal chordoma chordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002896 MONDO:0005976 True primary syphilis syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002897 MONDO:0005976 True secondary syphilis syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002898 MONDO:0000653 True skin cancer integumentary system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002898 MONDO:0002531 True skin cancer skin neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002899 MONDO:0005072 True differentiating neuroblastoma neuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002900 MONDO:0002731 True cerebral neuroblastoma cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002900 MONDO:0005072 True cerebral neuroblastoma neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002901 MONDO:0005570 True blood group incompatibility hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002903 MONDO:0004730 True articulation disorder speech disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002904 MONDO:0004730 True echolalia speech disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002905 MONDO:0004730 True mutism speech disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002907 MONDO:0000831 True intracranial thrombosis thrombotic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002907 MONDO:0011057 True intracranial thrombosis cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002908 MONDO:0005066 True glucose metabolism disease metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002909 MONDO:0002908 True hyperglycemia glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002910 MONDO:0001397 True peroneal neuropathy mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002911 MONDO:0002912 True brain stem glioma brainstem cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002912 MONDO:0003107 True brainstem cancer infratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002912 MONDO:0021228 True brainstem cancer brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002913 MONDO:0002427 True cerebellar neoplasm cerebellar disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002913 MONDO:0021211 True cerebellar neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002914 MONDO:0002912 True childhood brain stem neoplasm brainstem cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002914 MONDO:0002915 True childhood brain stem neoplasm childhood infratentorial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002915 MONDO:0021079 True childhood infratentorial neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002915 MONDO:0037736 True childhood infratentorial neoplasm infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002916 MONDO:0002918 True brainstem intraparenchymal clear cell meningioma clear cell meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002917 MONDO:0002051 True disorder of pilosebaceous unit integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002918 MONDO:0016642 True clear cell meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002919 MONDO:0016642 True posterior cranial fossa meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002920 MONDO:0002370 True malignant ovarian Brenner tumor ovarian Brenner tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002920 MONDO:0018364 True malignant ovarian Brenner tumor malignant epithelial tumor of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002921 MONDO:0019952 True congenital structural myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002922 MONDO:0005093 True pyoderma skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002923 MONDO:0005210 True uterine corpus endometrial stromal sarcoma uterine corpus sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002923 MONDO:0006745 True uterine corpus endometrial stromal sarcoma endometrioid stromal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002924 MONDO:0005864 True smooth muscle cancer muscle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002924 MONDO:0006975 True smooth muscle cancer smooth muscle tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002926 MONDO:0018078 True clear cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002927 MONDO:0005089 True spindle cell sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002928 MONDO:0005853 True carcinosarcoma malignant mixed neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002929 MONDO:0005275 True pulmonary immaturity lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002930 MONDO:0002367 True kidney sarcoma kidney cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002930 MONDO:0018078 True kidney sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002931 MONDO:0006170 True conjunctivochalasis conjunctival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002933 MONDO:0000833 True osteosclerosis bone remodeling disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002934 MONDO:0006646 True intravascular angioleiomyoma angioleiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002935 MONDO:0005341 True penis basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002936 MONDO:0005341 True scrotum basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002937 MONDO:0005341 True nodular basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002938 MONDO:0005341 True metatypical basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002939 MONDO:0005341 True skin pigmented basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002940 MONDO:0005341 True anal margin basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002941 MONDO:0002656 True anal margin carcinoma skin carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002941 MONDO:0003199 True anal margin carcinoma anal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002942 MONDO:0005341 True sebaceous basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002943 MONDO:0005341 True external ear basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002944 MONDO:0002038 True external ear carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002944 MONDO:0003574 True external ear carcinoma external ear cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002945 MONDO:0005341 True micronodular basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002946 MONDO:0002263 True gynatresia female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002947 MONDO:0005341 True adamantinoid basal cell epithelioma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002948 MONDO:0005341 True skin fibroepithelial basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002949 MONDO:0005341 True morpheaform basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002950 MONDO:0005341 True skin clear cell basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002951 MONDO:0005341 True skin adenoid basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002952 MONDO:0005341 True follicular basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002953 MONDO:0005341 True skin infiltrative basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002954 MONDO:0005341 True superficial multifocal basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002955 MONDO:0005341 True vulva basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002956 MONDO:0005341 True skin cystic basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002957 MONDO:0005341 True sarcomatoid basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002958 MONDO:0005341 True signet ring basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002959 MONDO:0003620 True radiculopathy peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002961 MONDO:0002093 True large cell acanthoma acanthoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002962 MONDO:0002093 True epidermolytic acanthoma acanthoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002963 MONDO:0002093 True acantholytic acanthoma acanthoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002966 MONDO:0001023 True splenic manifestation of prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002966 MONDO:0004107 True splenic manifestation of prolymphocytic leukemia splenic manifestation of leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002967 MONDO:0004678 True dermatophytosis of scalp or beard dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002968 MONDO:0005833 True lymphocele lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002969 MONDO:0002658 True ciliary body cancer iris cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002969 MONDO:0021229 True ciliary body cancer ciliary body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002970 MONDO:0002289 True ciliary body disorder iris disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002971 MONDO:0005105 True amelanotic melanoma melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002972 MONDO:0005843 True posterior mediastinum cancer mediastinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002973 MONDO:0005105 True epithelioid cell melanoma melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002974 MONDO:0002715 True cervical cancer uterine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002974 MONDO:0021230 True cervical cancer uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002975 MONDO:0005105 True malignant breast melanoma melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002975 MONDO:0007254 True malignant breast melanoma breast cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002976 MONDO:0004298 True stomach diverticulosis stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002977 MONDO:0005071 True autoimmune disorder of the nervous system nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002977 MONDO:0007179 True autoimmune disorder of the nervous system autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002978 MONDO:0002580 True orbit alveolar rhabdomyosarcoma orbit rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002979 MONDO:0005096 True papillary squamous carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002979 MONDO:0006509 True papillary squamous carcinoma papillary carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002981 MONDO:0002129 True peripheral primitive neuroectodermal tumor of bone bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002981 MONDO:0018271 True peripheral primitive neuroectodermal tumor of bone peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002981 MONDO:0021123 True peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002982 MONDO:0018271 True peripheral primitive neuroectodermal tumor of soft tissues peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002982 MONDO:0021039 True peripheral primitive neuroectodermal tumor of soft tissues extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002984 MONDO:0002637 True reticulohistiocytic granuloma histiocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002987 MONDO:0002406 True spongiotic dermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002988 MONDO:0000544 True cervix melanoma mucosal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002988 MONDO:0002974 True cervix melanoma cervical cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002989 MONDO:0005509 True benign fibrous histiocytoma histiocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002990 MONDO:0002989 True benign deep fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002991 MONDO:0001416 True adenocarcinofibroma female reproductive organ cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002991 MONDO:0005853 True adenocarcinofibroma malignant mixed neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002993 MONDO:0002994 True pancreatic somatostatinoma pancreatic delta cell neuroendocrine tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002994 MONDO:0005626 True pancreatic delta cell neuroendocrine tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002994 MONDO:0019954 True pancreatic delta cell neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002995 MONDO:0000386 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002995 MONDO:0018510 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002996 MONDO:0002998 True cavernous sinus meningioma skull base meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002997 MONDO:0016642 True anterior cranial fossa meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002998 MONDO:0002785 True skull base meningioma skull base neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002998 MONDO:0016642 True skull base meningioma meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002999 MONDO:0002714 True central nervous system germinoma central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002999 MONDO:0003000 True central nervous system germinoma central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003000 MONDO:0006130 True central nervous system germ cell tumor central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003000 MONDO:0018201 True central nervous system germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003001 MONDO:0006290 True seminoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003001 MONDO:0020580 True seminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003003 MONDO:0011655 True cervical alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003004 MONDO:0004580 True macular degeneration retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003005 MONDO:0004037 True macular retinal edema retinal edema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003007 MONDO:0005549 True childhood kidney cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003007 MONDO:0036511 True childhood kidney cell carcinoma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003008 MONDO:0005549 True hereditary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003009 MONDO:0006640 True hyperaldosteronism adrenal gland hyperfunction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003010 MONDO:0005005 True multilocular clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003011 MONDO:0005086 True mucinous tubular and spindle renal cell carcinoma renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003012 MONDO:0005549 True sarcomatoid renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003012 MONDO:0006406 True sarcomatoid renal cell carcinoma sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003014 MONDO:0002232 True rhinitis nasal cavity disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003017 MONDO:0002087 True malignant peritoneal solitary fibrous tumor peritoneum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003021 MONDO:0002217 True central nervous system angiosarcoma central nervous system sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003021 MONDO:0016982 True central nervous system angiosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003022 MONDO:0006517 True pediatric angiosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003022 MONDO:0016982 True pediatric angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003023 MONDO:0016982 True aorta angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003024 MONDO:0002490 True breast angiosarcoma breast sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003024 MONDO:0016982 True breast angiosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003025 MONDO:0016982 True conventional angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003026 MONDO:0002857 True gallbladder angiosarcoma gallbladder sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003026 MONDO:0016982 True gallbladder angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003027 MONDO:0003028 True thyroid gland angiosarcoma thyroid sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003027 MONDO:0016982 True thyroid gland angiosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003028 MONDO:0002108 True thyroid sarcoma thyroid cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003028 MONDO:0018078 True thyroid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003029 MONDO:0006414 True skin angiosarcoma skin sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003029 MONDO:0016982 True skin angiosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003030 MONDO:0003031 True endometrioid stromal sarcoma of the cervix endometrioid stromal and related neoplasms of the cervix SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003031 MONDO:0021148 True endometrioid stromal and related neoplasms of the cervix female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003032 MONDO:0004634 True superior vena cava angiosarcoma vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003032 MONDO:0016982 True superior vena cava angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003033 MONDO:0002854 True prostate angiosarcoma prostate sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003033 MONDO:0016982 True prostate angiosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003034 MONDO:0002852 True mediastinum angiosarcoma mediastinum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003034 MONDO:0016982 True mediastinum angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003035 MONDO:0002225 True ovarian angiosarcoma ovarian sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003035 MONDO:0016982 True ovarian angiosarcoma angiosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003037 MONDO:0002917 True hypotrichosis disorder of pilosebaceous unit SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003038 MONDO:0000599 True dysgraphia writing disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003039 MONDO:0000598 True nominal aphasia aphasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003040 MONDO:0001152 True retrograde amnesia amnestic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003041 MONDO:0006517 True pediatric mesenchymal chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003041 MONDO:0006853 True pediatric mesenchymal chondrosarcoma mesenchymal chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003042 MONDO:0006853 True adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003045 MONDO:0003046 True anal gland neoplasm anus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003046 MONDO:0002519 True anus neoplasm anus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003047 MONDO:0005057 True thymic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003047 MONDO:0020516 True thymic large cell neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003049 MONDO:0002481 True ovarian large-cell neuroendocrine carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003049 MONDO:0005057 True ovarian large-cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003049 MONDO:0005140 True ovarian large-cell neuroendocrine carcinoma ovarian carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003050 MONDO:0005232 True lung large cell carcinoma large cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003050 MONDO:0005233 True lung large cell carcinoma non-small cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003053 MONDO:0002681 True choroid plexus meningioma choroid plexus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003054 MONDO:0016642 True benign meningioma meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003054 MONDO:0021527 True benign meningioma benign neoplasm of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003055 MONDO:0016642 True secretory meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003056 MONDO:0016642 True lymphoplasmacyte-rich meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003057 MONDO:0016642 True pediatric meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003057 MONDO:0021079 True pediatric meningioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003058 MONDO:0016642 True microcystic meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003059 MONDO:0003060 True bile duct cancer biliary tract cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003061 MONDO:0000636 True benign muscle neoplasm musculoskeletal system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003061 MONDO:0021545 True benign muscle neoplasm myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003062 MONDO:0000385 True intestinal benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003062 MONDO:0021118 True intestinal benign neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003064 MONDO:0002537 True inverted transitional cell papilloma inverted papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003064 MONDO:0005605 True inverted transitional cell papilloma transitional cell papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003065 MONDO:0004756 True nasal cavity inverting papilloma nasal cavity neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003066 MONDO:0003067 True submandibular adenitis cervical lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003067 MONDO:0002052 True cervical lymphadenitis lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003068 MONDO:0002052 True postauricular lymphadenitis lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003069 MONDO:0002052 True suppurative lymphadenitis lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003070 MONDO:0002052 True axillary lymphadenitis lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003072 MONDO:0002236 True retinal cancer ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003072 MONDO:0021231 True retinal cancer retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003073 MONDO:0008380 True trilateral retinoblastoma retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003075 MONDO:0008380 True bilateral retinoblastoma retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003076 MONDO:0008380 True unilateral retinoblastoma retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003077 MONDO:0008380 True intraocular retinoblastoma retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003078 MONDO:0008380 True extraocular retinoblastoma retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003079 MONDO:0002724 True mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003081 MONDO:0005560 True thalamic disorder brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003082 MONDO:0003085 True filamentary keratitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003083 MONDO:0006500 True venous hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003084 MONDO:0007008 True uremic neuropathy uremia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003085 MONDO:0000942 True keratitis corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003086 MONDO:0003036 True thymic mucoepidermoid carcinoma mucoepidermoid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003087 MONDO:0003036 True mucoepidermoid breast carcinoma mucoepidermoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003087 MONDO:0006256 True mucoepidermoid breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003088 MONDO:0003096 True intramuscular hemangioma deep hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003089 MONDO:0003036 True extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003090 MONDO:0005496 True extrahepatic bile duct carcinoma bile duct carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003090 MONDO:0021321 True extrahepatic bile duct carcinoma malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003091 MONDO:0002656 True cutaneous mucoepidermoid carcinoma skin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003091 MONDO:0003036 True cutaneous mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003092 MONDO:0003036 True lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003093 MONDO:0003036 True mucoepidermoid esophageal carcinoma mucoepidermoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003095 MONDO:0002358 True laryngeal mucoepidermoid carcinoma laryngeal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003095 MONDO:0003036 True laryngeal mucoepidermoid carcinoma mucoepidermoid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003096 MONDO:0006500 True deep hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003097 MONDO:0003098 True childhood mediastinal neurogenic neoplasm mediastinal neural neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003097 MONDO:0021079 True childhood mediastinal neurogenic neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003098 MONDO:0021386 True mediastinal neural neoplasm neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003100 MONDO:0001406 True nerve plexus neoplasm peripheral nervous system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003103 MONDO:0001406 True nerve root neoplasm peripheral nervous system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003104 MONDO:0001322 True epicardium cancer pericardium cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003104 MONDO:0021379 True epicardium cancer neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003105 MONDO:0003150 True prostate disorder male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003107 MONDO:0001657 True infratentorial cancer brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003108 MONDO:0021234 True cervicomedullary junction neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003109 MONDO:0002998 True foramen magnum meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003110 MONDO:0006500 True skin hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003111 MONDO:0021085 True gastric neuroendocrine neoplasm gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003111 MONDO:0024503 True gastric neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003112 MONDO:0001056 True malignant gastric germ cell tumor gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003112 MONDO:0003113 True malignant gastric germ cell tumor extragonadal germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003113 MONDO:0006290 True extragonadal germ cell cancer malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003113 MONDO:0018201 True extragonadal germ cell cancer extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003115 MONDO:0006500 True subglottic hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003115 MONDO:0021530 True subglottic hemangioma benign neoplasm of subglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003117 MONDO:0002025 True somatoform disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003118 MONDO:0024235 True testicular Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003120 MONDO:0003510 True mixed testicular germ cell cancer malignant testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003120 MONDO:0015864 True mixed testicular germ cell cancer mixed germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003121 MONDO:0016642 True middle cranial fossa meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003122 MONDO:0007803 True striatonigral degeneration multiple system atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003124 MONDO:0003125 True testicular Leydig cell tumor testicular sex cord-stromal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003124 MONDO:0006266 True testicular Leydig cell tumor Leydig cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003125 MONDO:0006055 True testicular sex cord-stromal neoplasm sex cord-stromal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003125 MONDO:0021348 True testicular sex cord-stromal neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003126 MONDO:0000620 True breast hemangioma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003126 MONDO:0006500 True breast hemangioma hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003128 MONDO:0005933 True classic pulmonary blastoma pulmonary blastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003129 MONDO:0005933 True epithelial predominant pulmonary blastoma pulmonary blastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003133 MONDO:0002462 True exudative glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003134 MONDO:0002462 True proliferative glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003135 MONDO:0002462 True focal embolic glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003137 MONDO:0002462 True diffuse glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003138 MONDO:0002462 True subacute glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003139 MONDO:0002462 True mesangial proliferative glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003140 MONDO:0002462 True immune-complex glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003141 MONDO:0002553 True cerebellopontine angle embryonal tumor cerebellopontine angle tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003141 MONDO:0003107 True cerebellopontine angle embryonal tumor infratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003142 MONDO:0000640 True intracranial primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003142 MONDO:0001657 True intracranial primitive neuroectodermal tumor brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003143 MONDO:0003110 True angiokeratoma skin hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003145 MONDO:0002071 True supratentorial primitive neuroectodermal tumor supratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003147 MONDO:0008015 True space motion sickness motion sickness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003150 MONDO:0005039 True male reproductive system disorder reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003152 MONDO:0003153 True adult brainstem gliosarcoma adult brainstem glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003153 MONDO:0002911 True adult brainstem glioma brain stem glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003153 MONDO:0024797 True adult brainstem glioma adult brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003154 MONDO:0056804 True hemangioma of peripheral nerve benign neoplasm of peripheral nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003155 MONDO:0003159 True cavernous hemangioma vascular hemostatic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003155 MONDO:0006500 True cavernous hemangioma hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003157 MONDO:0002254 True disappearing bone disease syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003158 MONDO:0002380 True malignant myoepithelioma myoepithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003158 MONDO:0004993 True malignant myoepithelioma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003159 MONDO:0002243 True vascular hemostatic disease hemorrhagic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003163 MONDO:0003164 True cauda equina intradural extramedullary astrocytoma cauda equina neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003163 MONDO:0019781 True cauda equina intradural extramedullary astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003164 MONDO:0003103 True cauda equina neoplasm nerve root neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003165 MONDO:0002913 True cerebellar astrocytoma cerebellar neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003165 MONDO:0021631 True cerebellar astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003168 MONDO:0003165 True cerebellar pilocytic astrocytoma cerebellar astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003168 MONDO:0016691 True cerebellar pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003168 MONDO:0021499 True cerebellar pilocytic astrocytoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003169 MONDO:0002786 True diencephalic astrocytomas diencephalic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003169 MONDO:0021631 True diencephalic astrocytomas brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003170 MONDO:0021636 True gliofibroma astrocytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003171 MONDO:0003249 True pineal gland astrocytoma pineal gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003172 MONDO:0006500 True glomeruloid hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003173 MONDO:0002911 True brain stem astrocytic neoplasm brain stem glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003173 MONDO:0021631 True brain stem astrocytic neoplasm brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003174 MONDO:0002542 True spinal cord astrocytoma spinal cord glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003174 MONDO:0019781 True spinal cord astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003175 MONDO:0000521 True salivary gland adenoid cystic carcinoma salivary gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003175 MONDO:0004971 True salivary gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003177 MONDO:0004971 True prostate adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003180 MONDO:0004971 True cutaneous adenocystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003180 MONDO:0005524 True cutaneous adenocystic carcinoma sweat gland carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003181 MONDO:0004971 True lung adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003184 MONDO:0001407 True trachea carcinoma tracheal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003184 MONDO:0004993 True trachea carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003185 MONDO:0004971 True adenoid cystic breast carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003185 MONDO:0006256 True adenoid cystic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003186 MONDO:0004971 True esophageal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003187 MONDO:0004971 True Bartholin gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003189 MONDO:0003190 True middle ear adenocarcinoma middle ear carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003189 MONDO:0004970 True middle ear adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003190 MONDO:0002038 True middle ear carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003190 MONDO:0003275 True middle ear carcinoma middle ear cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003191 MONDO:0002752 True rete ovarii adenocarcinoma ovarian adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003191 MONDO:0003192 True rete ovarii adenocarcinoma rete ovarii neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003193 MONDO:0004970 True bile duct adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003193 MONDO:0005496 True bile duct adenocarcinoma bile duct carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003194 MONDO:0002732 True hemangioma of lung lung benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003194 MONDO:0006500 True hemangioma of lung hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003195 MONDO:0002113 True peritoneal serous adenocarcinoma peritoneal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003196 MONDO:0001235 True appendix carcinoma appendix cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003197 MONDO:0004970 True granular cell carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003198 MONDO:0004970 True small intestine adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003198 MONDO:0005522 True small intestine adenocarcinoma small intestine carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003199 MONDO:0001879 True anal carcinoma anus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003200 MONDO:0004970 True urethra adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003200 MONDO:0021327 True urethra adenocarcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003202 MONDO:0017582 True pituitary gland basophilic carcinoma pituitary adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003204 MONDO:0004970 True villous adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003205 MONDO:0005519 True renal pelvis adenocarcinoma renal pelvis carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003206 MONDO:0006500 True acquired hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003209 MONDO:0004970 True thymus gland adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003209 MONDO:0006451 True thymus gland adenocarcinoma thymic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003210 MONDO:0019087 True intrahepatic cholangiocarcinoma cholangiocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003211 MONDO:0003212 True nasal cavity adenocarcinoma nasal cavity carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003211 MONDO:0004970 True nasal cavity adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003212 MONDO:0001128 True nasal cavity carcinoma nasal cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003212 MONDO:0002038 True nasal cavity carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003214 MONDO:0003215 True apocrine adenocarcinoma apocrine sweat gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003214 MONDO:0005524 True apocrine adenocarcinoma sweat gland carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003215 MONDO:0002206 True apocrine sweat gland cancer sweat gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003215 MONDO:0003686 True apocrine sweat gland cancer apocrine sweat gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003216 MONDO:0004970 True ureter adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003216 MONDO:0006481 True ureter adenocarcinoma ureter carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003218 MONDO:0004647 True adenocarcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003218 MONDO:0004970 True adenocarcinoma in situ adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003219 MONDO:0004970 True gastroesophageal junction adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003219 MONDO:0006181 True gastroesophageal junction adenocarcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003220 MONDO:0005411 True gallbladder carcinoma gallbladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003220 MONDO:0006181 True gallbladder carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003222 MONDO:0002714 True central nervous system melanocytic neoplasm central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003222 MONDO:0021143 True central nervous system melanocytic neoplasm melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003223 MONDO:0005094 True meninges hemangiopericytoma hemangiopericytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003225 MONDO:0005570 True bone marrow disorder hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003227 MONDO:0005638 True prosopagnosia agnosia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003231 MONDO:0017373 True acute nonparalytic poliomyelitis poliomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003232 MONDO:0004982 True alcoholic pancreatitis pancreatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003233 MONDO:0005395 True essential tremor movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003234 MONDO:0002433 True optic nerve astrocytoma malignant cranial nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003234 MONDO:0003235 True optic nerve astrocytoma optic nerve glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003234 MONDO:0024649 True optic nerve astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003235 MONDO:0002640 True optic nerve glioma optic nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003235 MONDO:0016167 True optic nerve glioma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003236 MONDO:0005635 True atypical polypoid adenomyoma adenomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003237 MONDO:0005635 True adenomyoma of uterine corpus adenomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003237 MONDO:0021525 True adenomyoma of uterine corpus benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003238 MONDO:0005635 True cervical adenomyoma adenomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003240 MONDO:0005151 True thyroid gland disorder endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003241 MONDO:0000628 True central nervous system hemangioma central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003241 MONDO:0006500 True central nervous system hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003243 MONDO:0005004 True hepatocellular clear cell carcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003243 MONDO:0007256 True hepatocellular clear cell carcinoma hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003244 MONDO:0006424 True central nervous system mesenchymal non-meningothelial tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003245 MONDO:0007256 True aflatoxin-related hepatocellular carcinoma hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003246 MONDO:0007256 True sclerosing hepatic carcinoma hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003248 MONDO:0024890 True adult pineal parenchymal tumor pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003249 MONDO:0021069 True pineal gland cancer malignant endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003249 MONDO:0021232 True pineal gland cancer pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003250 MONDO:0006235 True benign granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003251 MONDO:0006235 True esophageal granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003251 MONDO:0021355 True esophageal granular cell tumor neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003252 MONDO:0006235 True granular cell cancer granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003252 MONDO:0021089 True granular cell cancer peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003253 MONDO:0006235 True vulvar granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003253 MONDO:0021049 True vulvar granular cell tumor vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003255 MONDO:0006235 True mediastinal granular cell myoblastoma granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003255 MONDO:0021386 True mediastinal granular cell myoblastoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003256 MONDO:0003257 True neurohypophysis granular cell tumor posterior pituitary gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003256 MONDO:0006235 True neurohypophysis granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003257 MONDO:0017611 True posterior pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003258 MONDO:0006500 True hobnail hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003260 MONDO:0002913 True adult cerebellar neoplasm cerebellar neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003261 MONDO:0000642 True papillary meningioma of the cerebellum brain meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003261 MONDO:0002913 True papillary meningioma of the cerebellum cerebellar neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003261 MONDO:0021088 True papillary meningioma of the cerebellum papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003262 MONDO:0016642 True rhabdoid meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003263 MONDO:0002913 True childhood cerebellar neoplasm cerebellar neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003263 MONDO:0002915 True childhood cerebellar neoplasm childhood infratentorial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003264 MONDO:0005341 True basosquamous carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003266 MONDO:0021042 True ependymal tumor glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003268 MONDO:0021042 True mixed glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003268 MONDO:0021043 True mixed glioma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003271 MONDO:0005420 True iodine hypothyroidism hypothyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003273 MONDO:0002129 True sternum cancer bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003273 MONDO:0003274 True sternum cancer thoracic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003273 MONDO:0021578 True sternum cancer sternal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003274 MONDO:0004992 True thoracic cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003274 MONDO:0021350 True thoracic cancer neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003275 MONDO:0003277 True middle ear cancer malignant ear neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003275 MONDO:0004532 True middle ear cancer auditory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003275 MONDO:0021366 True middle ear cancer neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002778 MONDO:0001279 True epidural spinal canal meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002779 MONDO:0000628 True central nervous system chondroma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002779 MONDO:0006423 True central nervous system chondroma soft tissue chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002781 MONDO:0002639 True glossopharyngeal nerve paralysis glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002781 MONDO:0002782 True glossopharyngeal nerve paralysis cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002782 MONDO:0003569 True cranial nerve palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002783 MONDO:0018882 True Shwartzman phenomenon vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002785 MONDO:0024653 True skull base neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002786 MONDO:0002071 True diencephalic cancer supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002787 MONDO:0018907 True adamantinous craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002788 MONDO:0018907 True papillary craniopharyngioma craniopharyngioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002789 MONDO:0002604 True hemangiopericytic tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002791 MONDO:0007959 True large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002792 MONDO:0007959 True cerebellar vermis medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002794 MONDO:0003260 True adult medulloblastoma adult cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002794 MONDO:0007959 True adult medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002795 MONDO:0000640 True adult central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002796 MONDO:0007959 True melanotic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002797 MONDO:0003263 True childhood medulloblastoma childhood cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002797 MONDO:0007959 True childhood medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002798 MONDO:0000640 True childhood central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002798 MONDO:0006517 True childhood central nervous system primitive neuroectodermal neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002799 MONDO:0007959 True nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002800 MONDO:0004625 True thrombophlebitis phlebitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002801 MONDO:0002802 True colonic pseudo-obstruction functional colonic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002802 MONDO:0003409 True functional colonic disease colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002804 MONDO:0003686 True apocrine adenoma apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002805 MONDO:0021110 True hidradenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002806 MONDO:0001672 True bronchogenic carcinoma bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002806 MONDO:0005138 True bronchogenic carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002807 MONDO:0001358 True bronchial neoplasm bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002808 MONDO:0002809 True pancreatic serous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002808 MONDO:0005177 True pancreatic serous cystadenoma serous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002809 MONDO:0002369 True pancreatic cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002809 MONDO:0021076 True pancreatic cystadenoma pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002810 MONDO:0021076 True pancreatic serous cystic neoplasm pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002814 MONDO:0002817 True adrenal carcinoma adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002815 MONDO:0004496 True acute myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002816 MONDO:0005495 True adrenal cortex disorder adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002817 MONDO:0005941 True adrenal gland cancer retroperitoneal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002817 MONDO:0021069 True adrenal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002817 MONDO:0021227 True adrenal gland cancer adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002821 MONDO:0005034 True trabecular follicular adenocarcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002822 MONDO:0004970 True trabecular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002824 MONDO:0004994 True extrinsic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002828 MONDO:0002829 True Bartholin gland transitional cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002828 MONDO:0006474 True Bartholin gland transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002829 MONDO:0005215 True bartholin gland carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002829 MONDO:0021114 True bartholin gland carcinoma Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002831 MONDO:0044787 True non-keratinizing sinonasal squamous cell carcinoma nasal cavity and paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002832 MONDO:0002447 True endometrial transitional cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002832 MONDO:0006474 True endometrial transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002833 MONDO:0006206 True fallopian tube transitional cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002833 MONDO:0006474 True fallopian tube transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002834 MONDO:0005159 True primary prostate urothelial carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002834 MONDO:0006474 True primary prostate urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002836 MONDO:0021327 True urethra transitional cell carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002836 MONDO:0040679 True urethra transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002837 MONDO:0006406 True sarcomatoid transitional cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002837 MONDO:0006474 True sarcomatoid transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002839 MONDO:0004298 True leather-bottle stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002840 MONDO:0004966 True eosinophilic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002842 MONDO:0004966 True bacterial gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002842 MONDO:0005113 True bacterial gastritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002843 MONDO:0002041 True fungal gastritis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002843 MONDO:0004966 True fungal gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002844 MONDO:0004966 True lymphocytic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002845 MONDO:0004966 True necrotizing gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002846 MONDO:0004966 True granulomatous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002847 MONDO:0002848 True skeletal muscle cancer skeletal muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002847 MONDO:0005864 True skeletal muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002848 MONDO:0005070 True skeletal muscle neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002849 MONDO:0002397 True liver rhabdomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002849 MONDO:0005212 True liver rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002850 MONDO:0002217 True central nervous system rhabdomyosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002850 MONDO:0005212 True central nervous system rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002851 MONDO:0002852 True mediastinum rhabdomyosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002851 MONDO:0005212 True mediastinum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002852 MONDO:0018078 True mediastinum sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002852 MONDO:0037743 True mediastinum sarcoma mediastinal soft tissue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002853 MONDO:0002168 True rectum rhabdomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002853 MONDO:0005212 True rectum rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002854 MONDO:0008315 True prostate sarcoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002854 MONDO:0018078 True prostate sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002855 MONDO:0005089 True ectomesenchymoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002855 MONDO:0005872 True ectomesenchymoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002856 MONDO:0002857 True gallbladder rhabdomyosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002856 MONDO:0005212 True gallbladder rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002857 MONDO:0005411 True gallbladder sarcoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002857 MONDO:0018078 True gallbladder sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002858 MONDO:0002225 True ovary rhabdomyosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002858 MONDO:0005212 True ovary rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002859 MONDO:0002490 True breast rhabdomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002859 MONDO:0005212 True breast rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002860 MONDO:0002861 True testis rhabdomyosarcoma testis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002860 MONDO:0005212 True testis rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002861 MONDO:0005447 True testis sarcoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002861 MONDO:0018078 True testis sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002862 MONDO:0003059 True bile duct sarcoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002863 MONDO:0005212 True rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002864 MONDO:0002865 True anus rhabdomyosarcoma anus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002865 MONDO:0001879 True anus sarcoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002865 MONDO:0018078 True anus sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002867 MONDO:0005596 True pancreatic cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002867 MONDO:0006047 True pancreatic cystadenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002868 MONDO:0003420 True bile duct mucinous cystic neoplasm with an associated invasive carcinoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002869 MONDO:0005267 True heart valve disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002870 MONDO:0000471 True tricuspid valve insufficiency tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002871 MONDO:0002872 True testicular trophoblastic tumor trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002871 MONDO:0006447 True testicular trophoblastic tumor testicular non-seminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002872 MONDO:0005070 True trophoblastic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002874 MONDO:0010108 True testicular pure germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002876 MONDO:0005636 True cervical adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002876 MONDO:0016277 True cervical adenosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002877 MONDO:0006485 True cervical carcinosarcoma uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002877 MONDO:0016277 True cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002878 MONDO:0002879 True uterine corpus adenosarcoma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002878 MONDO:0005636 True uterine corpus adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002879 MONDO:0005853 True uterine body mixed cancer malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002879 MONDO:0006003 True uterine body mixed cancer uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002879 MONDO:0016255 True uterine body mixed cancer uterine corpus mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002880 MONDO:0005636 True ovarian adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002880 MONDO:0008170 True ovarian adenosarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002881 MONDO:0001402 True vaginal adenosarcoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002881 MONDO:0005636 True vaginal adenosarcoma adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002882 MONDO:0002883 True colon neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002882 MONDO:0005401 True colon neuroendocrine neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002883 MONDO:0021118 True intestinal neuroendocrine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002883 MONDO:0024503 True intestinal neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002884 MONDO:0002051 True nail disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002885 MONDO:0002922 True erythrasma pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002886 MONDO:0002887 True common bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002887 MONDO:0004868 True bile duct disorder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002888 MONDO:0016642 True intraorbital meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002888 MONDO:0024611 True intraorbital meningioma orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002889 MONDO:0024611 True orbital cancer orbit neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002892 MONDO:0002785 True skull base chordoma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002892 MONDO:0008978 True skull base chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002894 MONDO:0008978 True spinal chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002896 MONDO:0005976 True primary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002897 MONDO:0005976 True secondary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002898 MONDO:0000653 True skin cancer integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002898 MONDO:0002531 True skin cancer skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002899 MONDO:0005072 True differentiating neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002900 MONDO:0002731 True cerebral neuroblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002900 MONDO:0005072 True cerebral neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002901 MONDO:0005570 True blood group incompatibility hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002903 MONDO:0004730 True articulation disorder speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002904 MONDO:0004730 True echolalia speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002905 MONDO:0004730 True mutism speech disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002907 MONDO:0000831 True intracranial thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002907 MONDO:0011057 True intracranial thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002908 MONDO:0005066 True glucose metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002909 MONDO:0002908 True hyperglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002910 MONDO:0001397 True peroneal neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002911 MONDO:0002912 True brain stem glioma brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002912 MONDO:0003107 True brainstem cancer infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002912 MONDO:0021228 True brainstem cancer brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002913 MONDO:0002427 True cerebellar neoplasm cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002913 MONDO:0021211 True cerebellar neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002914 MONDO:0002912 True childhood brain stem neoplasm brainstem cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002914 MONDO:0002915 True childhood brain stem neoplasm childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002915 MONDO:0021079 True childhood infratentorial neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002915 MONDO:0037736 True childhood infratentorial neoplasm infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002916 MONDO:0002918 True brainstem intraparenchymal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002917 MONDO:0002051 True disorder of pilosebaceous unit integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002918 MONDO:0016642 True clear cell meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002919 MONDO:0016642 True posterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002920 MONDO:0002370 True malignant ovarian Brenner tumor ovarian Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002920 MONDO:0018364 True malignant ovarian Brenner tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002921 MONDO:0019952 True congenital structural myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002922 MONDO:0005093 True pyoderma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002923 MONDO:0005210 True uterine corpus endometrial stromal sarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002923 MONDO:0006745 True uterine corpus endometrial stromal sarcoma endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002924 MONDO:0005864 True smooth muscle cancer muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002924 MONDO:0006975 True smooth muscle cancer smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002926 MONDO:0018078 True clear cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002927 MONDO:0005089 True spindle cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002928 MONDO:0005853 True carcinosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002929 MONDO:0005275 True pulmonary immaturity lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002930 MONDO:0002367 True kidney sarcoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002930 MONDO:0018078 True kidney sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002931 MONDO:0006170 True conjunctivochalasis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002933 MONDO:0000833 True osteosclerosis bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002934 MONDO:0006646 True intravascular angioleiomyoma angioleiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002935 MONDO:0005341 True penis basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002936 MONDO:0005341 True scrotum basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002937 MONDO:0005341 True nodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002938 MONDO:0005341 True metatypical basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002939 MONDO:0005341 True skin pigmented basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002940 MONDO:0005341 True anal margin basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002941 MONDO:0002656 True anal margin carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002941 MONDO:0003199 True anal margin carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002942 MONDO:0005341 True sebaceous basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002943 MONDO:0005341 True external ear basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002944 MONDO:0002038 True external ear carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002944 MONDO:0003574 True external ear carcinoma external ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002945 MONDO:0005341 True micronodular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002946 MONDO:0002263 True gynatresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002947 MONDO:0005341 True adamantinoid basal cell epithelioma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002948 MONDO:0005341 True skin fibroepithelial basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002949 MONDO:0005341 True morpheaform basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002950 MONDO:0005341 True skin clear cell basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002951 MONDO:0005341 True skin adenoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002952 MONDO:0005341 True follicular basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002953 MONDO:0005341 True skin infiltrative basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002954 MONDO:0005341 True superficial multifocal basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002955 MONDO:0005341 True vulva basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002956 MONDO:0005341 True skin cystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002957 MONDO:0005341 True sarcomatoid basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002958 MONDO:0005341 True signet ring basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002959 MONDO:0003620 True radiculopathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002961 MONDO:0002093 True large cell acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002962 MONDO:0002093 True epidermolytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002963 MONDO:0002093 True acantholytic acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002966 MONDO:0001023 True splenic manifestation of prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002966 MONDO:0004107 True splenic manifestation of prolymphocytic leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002967 MONDO:0004678 True dermatophytosis of scalp or beard dermatophytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002968 MONDO:0005833 True lymphocele lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002969 MONDO:0002658 True ciliary body cancer iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002969 MONDO:0021229 True ciliary body cancer ciliary body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002970 MONDO:0002289 True ciliary body disorder iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002971 MONDO:0005105 True amelanotic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002972 MONDO:0005843 True posterior mediastinum cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002973 MONDO:0005105 True epithelioid cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002974 MONDO:0002715 True cervical cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002974 MONDO:0021230 True cervical cancer uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002975 MONDO:0005105 True malignant breast melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002975 MONDO:0007254 True malignant breast melanoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002976 MONDO:0004298 True stomach diverticulosis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002977 MONDO:0005071 True autoimmune disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002977 MONDO:0007179 True autoimmune disorder of the nervous system autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002978 MONDO:0002580 True orbit alveolar rhabdomyosarcoma orbit rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002979 MONDO:0005096 True papillary squamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002979 MONDO:0006509 True papillary squamous carcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002981 MONDO:0002129 True peripheral primitive neuroectodermal tumor of bone bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002981 MONDO:0018271 True peripheral primitive neuroectodermal tumor of bone peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002981 MONDO:0021123 True peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002982 MONDO:0018271 True peripheral primitive neuroectodermal tumor of soft tissues peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002982 MONDO:0021039 True peripheral primitive neuroectodermal tumor of soft tissues extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002984 MONDO:0002637 True reticulohistiocytic granuloma histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002987 MONDO:0002406 True spongiotic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002988 MONDO:0000544 True cervix melanoma mucosal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002988 MONDO:0002974 True cervix melanoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002989 MONDO:0005509 True benign fibrous histiocytoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002990 MONDO:0002989 True benign deep fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002991 MONDO:0001416 True adenocarcinofibroma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002991 MONDO:0005853 True adenocarcinofibroma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002993 MONDO:0002994 True pancreatic somatostatinoma pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002994 MONDO:0005626 True pancreatic delta cell neuroendocrine tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002994 MONDO:0019954 True pancreatic delta cell neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002995 MONDO:0000386 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002995 MONDO:0018510 True small intestine neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002996 MONDO:0002998 True cavernous sinus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002997 MONDO:0016642 True anterior cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002998 MONDO:0002785 True skull base meningioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002998 MONDO:0016642 True skull base meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002999 MONDO:0002714 True central nervous system germinoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002999 MONDO:0003000 True central nervous system germinoma central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003000 MONDO:0006130 True central nervous system germ cell tumor central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003000 MONDO:0018201 True central nervous system germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003001 MONDO:0006290 True seminoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003001 MONDO:0020580 True seminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003003 MONDO:0011655 True cervical alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003004 MONDO:0004580 True macular degeneration retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003005 MONDO:0004037 True macular retinal edema retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003007 MONDO:0005549 True childhood kidney cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003007 MONDO:0036511 True childhood kidney cell carcinoma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003008 MONDO:0005549 True hereditary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003009 MONDO:0006640 True hyperaldosteronism adrenal gland hyperfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003010 MONDO:0005005 True multilocular clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003011 MONDO:0005086 True mucinous tubular and spindle renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003012 MONDO:0005549 True sarcomatoid renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003012 MONDO:0006406 True sarcomatoid renal cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003014 MONDO:0002232 True rhinitis nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003017 MONDO:0002087 True malignant peritoneal solitary fibrous tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003021 MONDO:0002217 True central nervous system angiosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003021 MONDO:0016982 True central nervous system angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003022 MONDO:0006517 True pediatric angiosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003022 MONDO:0016982 True pediatric angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003023 MONDO:0016982 True aorta angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003024 MONDO:0002490 True breast angiosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003024 MONDO:0016982 True breast angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003025 MONDO:0016982 True conventional angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003026 MONDO:0002857 True gallbladder angiosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003026 MONDO:0016982 True gallbladder angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003027 MONDO:0003028 True thyroid gland angiosarcoma thyroid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003027 MONDO:0016982 True thyroid gland angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003028 MONDO:0002108 True thyroid sarcoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003028 MONDO:0018078 True thyroid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003029 MONDO:0006414 True skin angiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003029 MONDO:0016982 True skin angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003030 MONDO:0003031 True endometrioid stromal sarcoma of the cervix endometrioid stromal and related neoplasms of the cervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003031 MONDO:0021148 True endometrioid stromal and related neoplasms of the cervix female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003032 MONDO:0004634 True superior vena cava angiosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003032 MONDO:0016982 True superior vena cava angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003033 MONDO:0002854 True prostate angiosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003033 MONDO:0016982 True prostate angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003034 MONDO:0002852 True mediastinum angiosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003034 MONDO:0016982 True mediastinum angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003035 MONDO:0002225 True ovarian angiosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003035 MONDO:0016982 True ovarian angiosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003037 MONDO:0002917 True hypotrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003038 MONDO:0000599 True dysgraphia writing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003039 MONDO:0000598 True nominal aphasia aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003040 MONDO:0001152 True retrograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003041 MONDO:0006517 True pediatric mesenchymal chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003041 MONDO:0006853 True pediatric mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003042 MONDO:0006853 True adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003045 MONDO:0003046 True anal gland neoplasm anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003046 MONDO:0002519 True anus neoplasm anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003047 MONDO:0005057 True thymic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003047 MONDO:0020516 True thymic large cell neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003049 MONDO:0002481 True ovarian large-cell neuroendocrine carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003049 MONDO:0005057 True ovarian large-cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003049 MONDO:0005140 True ovarian large-cell neuroendocrine carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003050 MONDO:0005232 True lung large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003050 MONDO:0005233 True lung large cell carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003053 MONDO:0002681 True choroid plexus meningioma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003054 MONDO:0016642 True benign meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003054 MONDO:0021527 True benign meningioma benign neoplasm of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003055 MONDO:0016642 True secretory meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003056 MONDO:0016642 True lymphoplasmacyte-rich meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003057 MONDO:0016642 True pediatric meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003057 MONDO:0021079 True pediatric meningioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003058 MONDO:0016642 True microcystic meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003059 MONDO:0003060 True bile duct cancer biliary tract cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003061 MONDO:0000636 True benign muscle neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003061 MONDO:0021545 True benign muscle neoplasm myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003062 MONDO:0000385 True intestinal benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003062 MONDO:0021118 True intestinal benign neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003064 MONDO:0002537 True inverted transitional cell papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003064 MONDO:0005605 True inverted transitional cell papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003065 MONDO:0004756 True nasal cavity inverting papilloma nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003066 MONDO:0003067 True submandibular adenitis cervical lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003067 MONDO:0002052 True cervical lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003068 MONDO:0002052 True postauricular lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003069 MONDO:0002052 True suppurative lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003070 MONDO:0002052 True axillary lymphadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003072 MONDO:0002236 True retinal cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003072 MONDO:0021231 True retinal cancer retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003073 MONDO:0008380 True trilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003075 MONDO:0008380 True bilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003076 MONDO:0008380 True unilateral retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003077 MONDO:0008380 True intraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003078 MONDO:0008380 True extraocular retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003079 MONDO:0002724 True mastocytoma mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003081 MONDO:0005560 True thalamic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003082 MONDO:0003085 True filamentary keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003083 MONDO:0006500 True venous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003084 MONDO:0007008 True uremic neuropathy uremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003085 MONDO:0000942 True keratitis corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003086 MONDO:0003036 True thymic mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003087 MONDO:0003036 True mucoepidermoid breast carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003087 MONDO:0006256 True mucoepidermoid breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003088 MONDO:0003096 True intramuscular hemangioma deep hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003089 MONDO:0003036 True extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003090 MONDO:0005496 True extrahepatic bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003090 MONDO:0021321 True extrahepatic bile duct carcinoma malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003091 MONDO:0002656 True cutaneous mucoepidermoid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003091 MONDO:0003036 True cutaneous mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003092 MONDO:0003036 True lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003093 MONDO:0003036 True mucoepidermoid esophageal carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003095 MONDO:0002358 True laryngeal mucoepidermoid carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003095 MONDO:0003036 True laryngeal mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003096 MONDO:0006500 True deep hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003097 MONDO:0003098 True childhood mediastinal neurogenic neoplasm mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003097 MONDO:0021079 True childhood mediastinal neurogenic neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003098 MONDO:0021386 True mediastinal neural neoplasm neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003100 MONDO:0001406 True nerve plexus neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003103 MONDO:0001406 True nerve root neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003104 MONDO:0001322 True epicardium cancer pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003104 MONDO:0021379 True epicardium cancer neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003105 MONDO:0003150 True prostate disorder male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003107 MONDO:0001657 True infratentorial cancer brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003108 MONDO:0021234 True cervicomedullary junction neoplasm spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003109 MONDO:0002998 True foramen magnum meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003110 MONDO:0006500 True skin hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003111 MONDO:0021085 True gastric neuroendocrine neoplasm gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003111 MONDO:0024503 True gastric neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003112 MONDO:0001056 True malignant gastric germ cell tumor gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003112 MONDO:0003113 True malignant gastric germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003113 MONDO:0006290 True extragonadal germ cell cancer malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003113 MONDO:0018201 True extragonadal germ cell cancer extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003115 MONDO:0006500 True subglottic hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003115 MONDO:0021530 True subglottic hemangioma benign neoplasm of subglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003117 MONDO:0002025 True somatoform disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003118 MONDO:0024235 True testicular Brenner tumor Brenner tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003120 MONDO:0003510 True mixed testicular germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003120 MONDO:0015864 True mixed testicular germ cell cancer mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003121 MONDO:0016642 True middle cranial fossa meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003122 MONDO:0007803 True striatonigral degeneration multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003124 MONDO:0003125 True testicular Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003124 MONDO:0006266 True testicular Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003125 MONDO:0006055 True testicular sex cord-stromal neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003125 MONDO:0021348 True testicular sex cord-stromal neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003126 MONDO:0000620 True breast hemangioma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003126 MONDO:0006500 True breast hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003128 MONDO:0005933 True classic pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003129 MONDO:0005933 True epithelial predominant pulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003133 MONDO:0002462 True exudative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003134 MONDO:0002462 True proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003135 MONDO:0002462 True focal embolic glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003137 MONDO:0002462 True diffuse glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003138 MONDO:0002462 True subacute glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003139 MONDO:0002462 True mesangial proliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003140 MONDO:0002462 True immune-complex glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003141 MONDO:0002553 True cerebellopontine angle embryonal tumor cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003141 MONDO:0003107 True cerebellopontine angle embryonal tumor infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003142 MONDO:0000640 True intracranial primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003142 MONDO:0001657 True intracranial primitive neuroectodermal tumor brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003143 MONDO:0003110 True angiokeratoma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003145 MONDO:0002071 True supratentorial primitive neuroectodermal tumor supratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003147 MONDO:0008015 True space motion sickness motion sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003150 MONDO:0005039 True male reproductive system disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003152 MONDO:0003153 True adult brainstem gliosarcoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003153 MONDO:0002911 True adult brainstem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003153 MONDO:0024797 True adult brainstem glioma adult brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003154 MONDO:0056804 True hemangioma of peripheral nerve benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003155 MONDO:0003159 True cavernous hemangioma vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003155 MONDO:0006500 True cavernous hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003157 MONDO:0002254 True disappearing bone disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003158 MONDO:0002380 True malignant myoepithelioma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003158 MONDO:0004993 True malignant myoepithelioma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003159 MONDO:0002243 True vascular hemostatic disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003163 MONDO:0003164 True cauda equina intradural extramedullary astrocytoma cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003163 MONDO:0019781 True cauda equina intradural extramedullary astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003164 MONDO:0003103 True cauda equina neoplasm nerve root neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003165 MONDO:0002913 True cerebellar astrocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003165 MONDO:0021631 True cerebellar astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003168 MONDO:0003165 True cerebellar pilocytic astrocytoma cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003168 MONDO:0016691 True cerebellar pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003168 MONDO:0021499 True cerebellar pilocytic astrocytoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003169 MONDO:0002786 True diencephalic astrocytomas diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003169 MONDO:0021631 True diencephalic astrocytomas brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003170 MONDO:0021636 True gliofibroma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003171 MONDO:0003249 True pineal gland astrocytoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003172 MONDO:0006500 True glomeruloid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003173 MONDO:0002911 True brain stem astrocytic neoplasm brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003173 MONDO:0021631 True brain stem astrocytic neoplasm brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003174 MONDO:0002542 True spinal cord astrocytoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003174 MONDO:0019781 True spinal cord astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003175 MONDO:0000521 True salivary gland adenoid cystic carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003175 MONDO:0004971 True salivary gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003177 MONDO:0004971 True prostate adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003180 MONDO:0004971 True cutaneous adenocystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003180 MONDO:0005524 True cutaneous adenocystic carcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003181 MONDO:0004971 True lung adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003184 MONDO:0001407 True trachea carcinoma tracheal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003184 MONDO:0004993 True trachea carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003185 MONDO:0004971 True adenoid cystic breast carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003185 MONDO:0006256 True adenoid cystic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003186 MONDO:0004971 True esophageal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003187 MONDO:0004971 True Bartholin gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003189 MONDO:0003190 True middle ear adenocarcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003189 MONDO:0004970 True middle ear adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003190 MONDO:0002038 True middle ear carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003190 MONDO:0003275 True middle ear carcinoma middle ear cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003191 MONDO:0002752 True rete ovarii adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003191 MONDO:0003192 True rete ovarii adenocarcinoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003193 MONDO:0004970 True bile duct adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003193 MONDO:0005496 True bile duct adenocarcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003194 MONDO:0002732 True hemangioma of lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003194 MONDO:0006500 True hemangioma of lung hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003195 MONDO:0002113 True peritoneal serous adenocarcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003196 MONDO:0001235 True appendix carcinoma appendix cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003197 MONDO:0004970 True granular cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003198 MONDO:0004970 True small intestine adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003198 MONDO:0005522 True small intestine adenocarcinoma small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003199 MONDO:0001879 True anal carcinoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003200 MONDO:0004970 True urethra adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003200 MONDO:0021327 True urethra adenocarcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003202 MONDO:0017582 True pituitary gland basophilic carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003204 MONDO:0004970 True villous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003205 MONDO:0005519 True renal pelvis adenocarcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003206 MONDO:0006500 True acquired hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003209 MONDO:0004970 True thymus gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003209 MONDO:0006451 True thymus gland adenocarcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003210 MONDO:0019087 True intrahepatic cholangiocarcinoma cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003211 MONDO:0003212 True nasal cavity adenocarcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003211 MONDO:0004970 True nasal cavity adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003212 MONDO:0001128 True nasal cavity carcinoma nasal cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003212 MONDO:0002038 True nasal cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003214 MONDO:0003215 True apocrine adenocarcinoma apocrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003214 MONDO:0005524 True apocrine adenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003215 MONDO:0002206 True apocrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003215 MONDO:0003686 True apocrine sweat gland cancer apocrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003216 MONDO:0004970 True ureter adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003216 MONDO:0006481 True ureter adenocarcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003218 MONDO:0004647 True adenocarcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003218 MONDO:0004970 True adenocarcinoma in situ adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003219 MONDO:0004970 True gastroesophageal junction adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003219 MONDO:0006181 True gastroesophageal junction adenocarcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003220 MONDO:0005411 True gallbladder carcinoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003220 MONDO:0006181 True gallbladder carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003222 MONDO:0002714 True central nervous system melanocytic neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003222 MONDO:0021143 True central nervous system melanocytic neoplasm melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003223 MONDO:0005094 True meninges hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003225 MONDO:0005570 True bone marrow disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003227 MONDO:0005638 True prosopagnosia agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003231 MONDO:0017373 True acute nonparalytic poliomyelitis poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003232 MONDO:0004982 True alcoholic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003233 MONDO:0005395 True essential tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003234 MONDO:0002433 True optic nerve astrocytoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003234 MONDO:0003235 True optic nerve astrocytoma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003234 MONDO:0024649 True optic nerve astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003235 MONDO:0002640 True optic nerve glioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003235 MONDO:0016167 True optic nerve glioma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003236 MONDO:0005635 True atypical polypoid adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003237 MONDO:0005635 True adenomyoma of uterine corpus adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003237 MONDO:0021525 True adenomyoma of uterine corpus benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003238 MONDO:0005635 True cervical adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003240 MONDO:0005151 True thyroid gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003241 MONDO:0000628 True central nervous system hemangioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003241 MONDO:0006500 True central nervous system hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003243 MONDO:0005004 True hepatocellular clear cell carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003243 MONDO:0007256 True hepatocellular clear cell carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003244 MONDO:0006424 True central nervous system mesenchymal non-meningothelial tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003245 MONDO:0007256 True aflatoxin-related hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003246 MONDO:0007256 True sclerosing hepatic carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003248 MONDO:0024890 True adult pineal parenchymal tumor pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003249 MONDO:0021069 True pineal gland cancer malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003249 MONDO:0021232 True pineal gland cancer pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003250 MONDO:0006235 True benign granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003251 MONDO:0006235 True esophageal granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003251 MONDO:0021355 True esophageal granular cell tumor neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003252 MONDO:0006235 True granular cell cancer granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003252 MONDO:0021089 True granular cell cancer peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003253 MONDO:0006235 True vulvar granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003253 MONDO:0021049 True vulvar granular cell tumor vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003255 MONDO:0006235 True mediastinal granular cell myoblastoma granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003255 MONDO:0021386 True mediastinal granular cell myoblastoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003256 MONDO:0003257 True neurohypophysis granular cell tumor posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003256 MONDO:0006235 True neurohypophysis granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003257 MONDO:0017611 True posterior pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003258 MONDO:0006500 True hobnail hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003260 MONDO:0002913 True adult cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003261 MONDO:0000642 True papillary meningioma of the cerebellum brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003261 MONDO:0002913 True papillary meningioma of the cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003261 MONDO:0021088 True papillary meningioma of the cerebellum papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003262 MONDO:0016642 True rhabdoid meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003263 MONDO:0002913 True childhood cerebellar neoplasm cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003263 MONDO:0002915 True childhood cerebellar neoplasm childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003264 MONDO:0005341 True basosquamous carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003266 MONDO:0021042 True ependymal tumor glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003268 MONDO:0021042 True mixed glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003268 MONDO:0021043 True mixed glioma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003271 MONDO:0005420 True iodine hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003273 MONDO:0002129 True sternum cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003273 MONDO:0003274 True sternum cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003273 MONDO:0021578 True sternum cancer sternal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003274 MONDO:0004992 True thoracic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003274 MONDO:0021350 True thoracic cancer neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003275 MONDO:0003277 True middle ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003275 MONDO:0004532 True middle ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003275 MONDO:0021366 True middle ear cancer neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003276 MONDO:0002409 True middle ear disorder auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003277 MONDO:0000649 True malignant ear neoplasm sensory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003277 MONDO:0005627 True malignant ear neoplasm head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003277 MONDO:0021233 True malignant ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003278 MONDO:0003277 True inner ear cancer malignant ear neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003278 MONDO:0004532 True inner ear cancer auditory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003279 MONDO:0002329 True testicular infarct testicular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003281 MONDO:0002379 True ovarian cystic teratoma cystic teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003281 MONDO:0011366 True ovarian cystic teratoma ovarian germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003282 MONDO:0005558 True ovarian cyst ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003283 MONDO:0024582 True epididymal neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003284 MONDO:0001572 True mediastinum leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003284 MONDO:0021521 True mediastinum leiomyoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003285 MONDO:0000645 True fallopian tube leiomyoma fallopian tube benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003285 MONDO:0001572 True fallopian tube leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003286 MONDO:0021385 True extrahepatic bile duct leiomyoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003287 MONDO:0000628 True central nervous system leiomyoma central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003287 MONDO:0001572 True central nervous system leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003288 MONDO:0001572 True bizarre leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003289 MONDO:0001572 True deep leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003290 MONDO:0005384 True simple partial epilepsy focal epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003291 MONDO:0001572 True leiomyoma cutis leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003291 MONDO:0002300 True leiomyoma cutis dermis tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003291 MONDO:0021440 True leiomyoma cutis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003292 MONDO:0021469 True anus leiomyoma benign neoplasm of anus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003293 MONDO:0001572 True lung leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003293 MONDO:0002732 True lung leiomyoma lung benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003294 MONDO:0001572 True pericardium leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003294 MONDO:0021514 True pericardium leiomyoma benign neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003295 MONDO:0001572 True leiomyomatosis leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003296 MONDO:0001572 True cellular leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003297 MONDO:0001572 True gallbladder leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003297 MONDO:0021503 True gallbladder leiomyoma benign neoplasm of gallbladder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003298 MONDO:0000643 True vulvar leiomyoma vulvar benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003298 MONDO:0001572 True vulvar leiomyoma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003299 MONDO:0001572 True colorectal leiomyoma leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003299 MONDO:0005335 True colorectal leiomyoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003299 MONDO:0021444 True colorectal leiomyoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003300 MONDO:0021465 True appendix leiomyoma benign neoplasm of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003301 MONDO:0003291 True dartoic leiomyoma leiomyoma cutis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003302 MONDO:0016755 True epithelioid neurofibroma neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003303 MONDO:0005411 True neurofibroma of gallbladder gallbladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003303 MONDO:0016755 True neurofibroma of gallbladder neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003304 MONDO:0016755 True plexiform neurofibroma neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003305 MONDO:0016755 True cellular neurofibroma neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003306 MONDO:0016755 True atypical neurofibroma neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003307 MONDO:0002173 True multiple mucosal neuroma neuroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003308 MONDO:0021065 True pleural mesothelioma pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003310 MONDO:0002277 True Monckeberg arteriosclerosis arteriosclerosis disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003312 MONDO:0021068 True ovarian endometrioid stromal and related neoplasms ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003312 MONDO:0037742 True ovarian endometrioid stromal and related neoplasms endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003313 MONDO:0002140 True endometrioid stromal sarcoma of the vagina vagina sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003314 MONDO:0021050 True endometrioid stromal and related neoplasms of the vagina vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003314 MONDO:0037742 True endometrioid stromal and related neoplasms of the vagina endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003316 MONDO:0019004 True nonanaplastic kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003317 MONDO:0019004 True metachronous kidney Wilms' tumor kidney Wilms tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003318 MONDO:0019004 True mixed cell type kidney Wilms' tumor kidney Wilms tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003320 MONDO:0019004 True blastema predominant kidney Wilms tumor kidney Wilms tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003321 MONDO:0019004 True hereditary Wilms tumor kidney Wilms tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003322 MONDO:0019004 True epithelial predominant Wilms' tumor kidney Wilms tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003325 MONDO:0005035 True nodular ganglioneuroblastoma ganglioneuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003326 MONDO:0005035 True intermixed schwannian stroma-rich ganglioneuroblastoma ganglioneuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003327 MONDO:0001406 True peripheral ganglioneuroblastoma peripheral nervous system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003327 MONDO:0005035 True peripheral ganglioneuroblastoma ganglioneuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003328 MONDO:0000645 True fallopian tube adenomatoid tumor fallopian tube benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003328 MONDO:0004230 True fallopian tube adenomatoid tumor adenomatoid tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003329 MONDO:0001926 True ureteral obstruction ureteral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003329 MONDO:0003330 True ureteral obstruction urinary tract obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003330 MONDO:0002118 True urinary tract obstruction urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003331 MONDO:0005602 True ovarian monodermal teratoma ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003332 MONDO:0006444 True malignant struma ovarii teratoma with malignant transformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003334 MONDO:0001824 True demyelinating polyneuropathy polyneuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003335 MONDO:0001824 True chronic polyneuropathy polyneuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003340 MONDO:0004992 True malignant glomus tumor cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003340 MONDO:0018327 True malignant glomus tumor glomus tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003341 MONDO:0002295 True subungual glomus tumor skin glomus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003342 MONDO:0002604 True benign perivascular tumor pericytic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003342 MONDO:0005165 True benign perivascular tumor benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003343 MONDO:0016748 True retinal hemangioblastoma hemangioblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003345 MONDO:0003210 True hilar cholangiocarcinoma intrahepatic cholangiocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003346 MONDO:0002602 True central nervous system vasculitis central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003346 MONDO:0018882 True central nervous system vasculitis vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003347 MONDO:0005058 True inflammatory leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003348 MONDO:0005058 True conventional leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003349 MONDO:0002217 True central nervous system leiomyosarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003349 MONDO:0005058 True central nervous system leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003349 MONDO:0037740 True central nervous system leiomyosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003351 MONDO:0003352 True colon leiomyosarcoma colon sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003351 MONDO:0005058 True colon leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003352 MONDO:0005089 True colon sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003352 MONDO:0021063 True colon sarcoma malignant colon neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003353 MONDO:0003354 True heart leiomyosarcoma heart sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003353 MONDO:0005058 True heart leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003354 MONDO:0001340 True heart sarcoma heart cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003354 MONDO:0018078 True heart sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003355 MONDO:0002225 True ovary leiomyosarcoma ovarian sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003355 MONDO:0005058 True ovary leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003356 MONDO:0005058 True epithelioid leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003357 MONDO:0002426 True lung leiomyosarcoma lung sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003357 MONDO:0005058 True lung leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003358 MONDO:0002865 True anus leiomyosarcoma anus sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003359 MONDO:0005058 True myxoid leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003360 MONDO:0003361 True small intestine leiomyosarcoma small intestinal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003360 MONDO:0005058 True small intestine leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003360 MONDO:0018506 True small intestine leiomyosarcoma mesenchymal tumor of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003361 MONDO:0000956 True small intestinal sarcoma small intestine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003361 MONDO:0018078 True small intestinal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003362 MONDO:0006414 True cutaneous leiomyosarcoma skin sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003363 MONDO:0002300 True malignant dermis tumor dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003363 MONDO:0002898 True malignant dermis tumor skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003364 MONDO:0002857 True gallbladder leiomyosarcoma gallbladder sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003364 MONDO:0005058 True gallbladder leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003365 MONDO:0001204 True esophagus leiomyosarcoma esophagus sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003365 MONDO:0005058 True esophagus leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003366 MONDO:0006816 True hydrarthrosis arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003367 MONDO:0001056 True gastric leiomyosarcoma gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003367 MONDO:0005058 True gastric leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003368 MONDO:0002854 True prostate leiomyosarcoma prostate sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003368 MONDO:0005058 True prostate leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003369 MONDO:0002140 True vagina leiomyosarcoma vagina sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003369 MONDO:0005058 True vagina leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003370 MONDO:0001501 True retroperitoneal leiomyosarcoma retroperitoneal sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003370 MONDO:0005058 True retroperitoneal leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003371 MONDO:0002490 True breast leiomyosarcoma breast sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003371 MONDO:0005058 True breast leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003372 MONDO:0005058 True vulvar leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003372 MONDO:0005214 True vulvar leiomyosarcoma vulva sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003373 MONDO:0002930 True kidney leiomyosarcoma kidney sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003373 MONDO:0005058 True kidney leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003374 MONDO:0002448 True laryngeal leiomyosarcoma laryngeal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003374 MONDO:0005058 True laryngeal leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003376 MONDO:0002852 True mediastinum leiomyosarcoma mediastinum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003376 MONDO:0005058 True mediastinum leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003377 MONDO:0003090 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003377 MONDO:0024658 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003378 MONDO:0002397 True liver leiomyosarcoma liver sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003378 MONDO:0005058 True liver leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003379 MONDO:0002168 True rectum leiomyosarcoma rectum sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003379 MONDO:0005058 True rectum leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003381 MONDO:0005151 True pituitary gland disorder endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003383 MONDO:0002746 True fallopian tube clear cell adenocarcinoma fallopian tube adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003383 MONDO:0005004 True fallopian tube clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003384 MONDO:0002741 True uterine ligament clear cell adenocarcinoma uterine ligament adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003386 MONDO:0002751 True bladder clear cell adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003386 MONDO:0005004 True bladder clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003387 MONDO:0003200 True urethra clear cell adenocarcinoma urethra adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003387 MONDO:0005004 True urethra clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003388 MONDO:0002670 True ampulla of vater clear cell adenocarcinoma ampulla of vater adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003389 MONDO:0004993 True epithelial-myoepithelial carcinoma carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003390 MONDO:0004953 True glycogen-rich clear cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003390 MONDO:0005004 True glycogen-rich clear cell breast carcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003390 MONDO:0045055 True glycogen-rich clear cell breast carcinoma glycogen-rich carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003391 MONDO:0005214 True vulvar alveolar soft part sarcoma vulva sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003391 MONDO:0011655 True vulvar alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003392 MONDO:0005040 True fallopian tube germ cell tumor germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003392 MONDO:0021092 True fallopian tube germ cell tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003393 MONDO:0005046 True thymus gland disorder immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003394 MONDO:0006999 True dental pulp disorder tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003395 MONDO:0003125 True testicular granulosa cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003395 MONDO:0006036 True testicular granulosa cell tumor granulosa cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003396 MONDO:0002507 True epulis gingival overgrowth SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003397 MONDO:0002507 True gingival hypertrophy gingival overgrowth SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003398 MONDO:0001152 True anterograde amnesia amnestic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003399 MONDO:0002073 True pineal region yolk sac tumor malignant pineal area germ cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003400 MONDO:0004479 True childhood endodermal sinus tumor malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003400 MONDO:0005744 True childhood endodermal sinus tumor yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003401 MONDO:0002714 True central nervous system endodermal sinus tumor central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003401 MONDO:0003400 True central nervous system endodermal sinus tumor childhood endodermal sinus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003401 MONDO:0003750 True central nervous system endodermal sinus tumor childhood central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003401 MONDO:0016739 True central nervous system endodermal sinus tumor yolk sac tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003401 MONDO:0020574 True central nervous system endodermal sinus tumor central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003402 MONDO:0002874 True testicular yolk sac tumor testicular pure germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003402 MONDO:0003403 True testicular yolk sac tumor testicular non-seminomatous germ cell cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003402 MONDO:0005744 True testicular yolk sac tumor yolk sac tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003403 MONDO:0003510 True testicular non-seminomatous germ cell cancer malignant testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003403 MONDO:0006447 True testicular non-seminomatous germ cell cancer testicular non-seminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003404 MONDO:0005744 True adult yolk sac tumor yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003404 MONDO:0044878 True adult yolk sac tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003405 MONDO:0003000 True adult central nervous system germ cell tumor central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003405 MONDO:0044878 True adult central nervous system germ cell tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003408 MONDO:0018171 True ovarian primitive germ cell tumor malignant germ cell tumor of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003410 MONDO:0005153 True Wolffian duct adenocarcinoma cervical adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003410 MONDO:0005613 True Wolffian duct adenocarcinoma mesonephric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003411 MONDO:0005094 True breast hemangiopericytoma hemangiopericytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003412 MONDO:0005094 True retroperitoneal hemangiopericytoma hemangiopericytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003413 MONDO:0002297 True hair follicle neoplasm epidermal appendage tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003413 MONDO:0002917 True hair follicle neoplasm disorder of pilosebaceous unit UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003414 MONDO:0006973 True skin pilomatrix carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003417 MONDO:0003425 True internuclear ophthalmoplegia ophthalmoplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003417 MONDO:0003432 True internuclear ophthalmoplegia strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003419 MONDO:0002193 True Bartholin gland adenoma Bartholin gland benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003419 MONDO:0002198 True Bartholin gland adenoma vulvar glandular neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003419 MONDO:0004972 True Bartholin gland adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003419 MONDO:0036976 True Bartholin gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003421 MONDO:0004972 True mixed cell adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003421 MONDO:0021043 True mixed cell adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003422 MONDO:0002732 True lung adenoma lung benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003422 MONDO:0004972 True lung adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003422 MONDO:0036976 True lung adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003423 MONDO:0004972 True middle ear adenoma adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003423 MONDO:0021482 True middle ear adenoma benign neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003423 MONDO:0036976 True middle ear adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003424 MONDO:0004972 True oncocytic adenoma adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003424 MONDO:0010795 True oncocytic adenoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003425 MONDO:0001584 True ophthalmoplegia ocular motility disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003426 MONDO:0004972 True clear cell adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003427 MONDO:0002533 True bronchus adenoma papillary adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003427 MONDO:0002807 True bronchus adenoma bronchial neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003427 MONDO:0003422 True bronchus adenoma lung adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003428 MONDO:0002328 True brain hemangioma intracranial hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003429 MONDO:0006373 True functioning pituitary gland adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003431 MONDO:0004972 True lipoadenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003432 MONDO:0001584 True strabismus ocular motility disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003433 MONDO:0004972 True water-clear cell adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003434 MONDO:0001704 True vaginal adenoma vaginal glandular neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003434 MONDO:0004972 True vaginal adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003435 MONDO:0004972 True microcystic adenoma adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003437 MONDO:0008433 True occult small cell lung carcinoma small cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003438 MONDO:0006167 True combined small cell lung carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003438 MONDO:0008433 True combined small cell lung carcinoma small cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003439 MONDO:0004987 True urinary bladder villous adenoma urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003441 MONDO:0005395 True dystonic disorder movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003442 MONDO:0003443 True bladder papillary urothelial neoplasm papillary urothelial neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003442 MONDO:0004987 True bladder papillary urothelial neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003443 MONDO:0021096 True papillary urothelial neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003443 MONDO:0024337 True papillary urothelial neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003444 MONDO:0006108 True intrahepatic bile duct adenoma bile duct adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003445 MONDO:0006108 True extrahepatic bile duct adenoma bile duct adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003445 MONDO:0021385 True extrahepatic bile duct adenoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003446 MONDO:0002805 True papillary hidradenoma hidradenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003447 MONDO:0002805 True clear cell hidradenoma hidradenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003447 MONDO:0003426 True clear cell hidradenoma clear cell adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003448 MONDO:0021489 True benign spiradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003450 MONDO:0002090 True eccrine papillary adenoma eccrine sweat gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003452 MONDO:0002467 True cochlear disorder inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003453 MONDO:0020204 True conjunctival intraepithelial neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003453 MONDO:0024475 True conjunctival intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003454 MONDO:0002236 True conjunctival cancer ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003454 MONDO:0020204 True conjunctival cancer conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003455 MONDO:0000385 True bile duct papillary neoplasm benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003455 MONDO:0021662 True bile duct papillary neoplasm bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003458 MONDO:0006071 True uterine corpus adenofibroma adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003458 MONDO:0021525 True uterine corpus adenofibroma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003459 MONDO:0000644 True cervical adenofibroma cervical benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003460 MONDO:0006071 True clear cell adenofibroma adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003461 MONDO:0000645 True fallopian tube serous adenofibroma fallopian tube benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003461 MONDO:0024886 True fallopian tube serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003462 MONDO:0006071 True papillary adenofibroma adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003463 MONDO:0000646 True ovarian endometrioid adenofibroma ovarian benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003464 MONDO:0006071 True cystadenofibroma adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003465 MONDO:0010434 True fibrous synovial sarcoma synovial sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003466 MONDO:0005067 True spindle cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003467 MONDO:0002852 True mediastinum synovial sarcoma mediastinum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003467 MONDO:0010434 True mediastinum synovial sarcoma synovial sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003468 MONDO:0010434 True biphasic synovial sarcoma synovial sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003469 MONDO:0005067 True epithelioid cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003470 MONDO:0016698 True cellular ependymoma ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003471 MONDO:0003472 True Pediculus humanus capitis infestation lice infestation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003277 MONDO:0000649 True malignant ear neoplasm sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003277 MONDO:0005627 True malignant ear neoplasm head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003277 MONDO:0021233 True malignant ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003278 MONDO:0003277 True inner ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003278 MONDO:0004532 True inner ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003279 MONDO:0002329 True testicular infarct testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003281 MONDO:0002379 True ovarian cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003281 MONDO:0011366 True ovarian cystic teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003282 MONDO:0005558 True ovarian cyst ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003283 MONDO:0024582 True epididymal neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003284 MONDO:0001572 True mediastinum leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003284 MONDO:0021521 True mediastinum leiomyoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003285 MONDO:0000645 True fallopian tube leiomyoma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003285 MONDO:0001572 True fallopian tube leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003286 MONDO:0021385 True extrahepatic bile duct leiomyoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003287 MONDO:0000628 True central nervous system leiomyoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003287 MONDO:0001572 True central nervous system leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003288 MONDO:0001572 True bizarre leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003289 MONDO:0001572 True deep leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003290 MONDO:0005384 True simple partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003291 MONDO:0001572 True leiomyoma cutis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003291 MONDO:0002300 True leiomyoma cutis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003291 MONDO:0021440 True leiomyoma cutis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003292 MONDO:0021469 True anus leiomyoma benign neoplasm of anus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003293 MONDO:0001572 True lung leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003293 MONDO:0002732 True lung leiomyoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003294 MONDO:0001572 True pericardium leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003294 MONDO:0021514 True pericardium leiomyoma benign neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003295 MONDO:0001572 True leiomyomatosis leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003296 MONDO:0001572 True cellular leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003297 MONDO:0001572 True gallbladder leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003297 MONDO:0021503 True gallbladder leiomyoma benign neoplasm of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003298 MONDO:0000643 True vulvar leiomyoma vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003298 MONDO:0001572 True vulvar leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003299 MONDO:0001572 True colorectal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003299 MONDO:0005335 True colorectal leiomyoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003299 MONDO:0021444 True colorectal leiomyoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003300 MONDO:0021465 True appendix leiomyoma benign neoplasm of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003301 MONDO:0003291 True dartoic leiomyoma leiomyoma cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003302 MONDO:0016755 True epithelioid neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003303 MONDO:0005411 True neurofibroma of gallbladder gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003303 MONDO:0016755 True neurofibroma of gallbladder neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003304 MONDO:0016755 True plexiform neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003305 MONDO:0016755 True cellular neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003306 MONDO:0016755 True atypical neurofibroma neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003307 MONDO:0002173 True multiple mucosal neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003308 MONDO:0021065 True pleural mesothelioma pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003310 MONDO:0002277 True Monckeberg arteriosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003312 MONDO:0021068 True ovarian endometrioid stromal and related neoplasms ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003312 MONDO:0037742 True ovarian endometrioid stromal and related neoplasms endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003313 MONDO:0002140 True endometrioid stromal sarcoma of the vagina vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003314 MONDO:0021050 True endometrioid stromal and related neoplasms of the vagina vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003314 MONDO:0037742 True endometrioid stromal and related neoplasms of the vagina endometrioid stromal and related neoplasms UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003316 MONDO:0019004 True nonanaplastic kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003317 MONDO:0019004 True metachronous kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003318 MONDO:0019004 True mixed cell type kidney Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003320 MONDO:0019004 True blastema predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003321 MONDO:0019004 True hereditary Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003322 MONDO:0019004 True epithelial predominant Wilms' tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003325 MONDO:0005035 True nodular ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003326 MONDO:0005035 True intermixed schwannian stroma-rich ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003327 MONDO:0001406 True peripheral ganglioneuroblastoma peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003327 MONDO:0005035 True peripheral ganglioneuroblastoma ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003328 MONDO:0000645 True fallopian tube adenomatoid tumor fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003328 MONDO:0004230 True fallopian tube adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003329 MONDO:0001926 True ureteral obstruction ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003329 MONDO:0003330 True ureteral obstruction urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003330 MONDO:0002118 True urinary tract obstruction urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003331 MONDO:0005602 True ovarian monodermal teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003332 MONDO:0006444 True malignant struma ovarii teratoma with malignant transformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003334 MONDO:0001824 True demyelinating polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003335 MONDO:0001824 True chronic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003340 MONDO:0004992 True malignant glomus tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003340 MONDO:0018327 True malignant glomus tumor glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003341 MONDO:0002295 True subungual glomus tumor skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003342 MONDO:0002604 True benign perivascular tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003342 MONDO:0005165 True benign perivascular tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003343 MONDO:0016748 True retinal hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003345 MONDO:0003210 True hilar cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003346 MONDO:0002602 True central nervous system vasculitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003346 MONDO:0018882 True central nervous system vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003347 MONDO:0005058 True inflammatory leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003348 MONDO:0005058 True conventional leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003349 MONDO:0002217 True central nervous system leiomyosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003349 MONDO:0005058 True central nervous system leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003349 MONDO:0037740 True central nervous system leiomyosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003351 MONDO:0003352 True colon leiomyosarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003351 MONDO:0005058 True colon leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003352 MONDO:0005089 True colon sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003352 MONDO:0021063 True colon sarcoma malignant colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003353 MONDO:0003354 True heart leiomyosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003353 MONDO:0005058 True heart leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003354 MONDO:0001340 True heart sarcoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003354 MONDO:0018078 True heart sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003355 MONDO:0002225 True ovary leiomyosarcoma ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003355 MONDO:0005058 True ovary leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003356 MONDO:0005058 True epithelioid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003357 MONDO:0002426 True lung leiomyosarcoma lung sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003357 MONDO:0005058 True lung leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003358 MONDO:0002865 True anus leiomyosarcoma anus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003359 MONDO:0005058 True myxoid leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003360 MONDO:0003361 True small intestine leiomyosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003360 MONDO:0005058 True small intestine leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003360 MONDO:0018506 True small intestine leiomyosarcoma mesenchymal tumor of small intestine UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003361 MONDO:0000956 True small intestinal sarcoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003361 MONDO:0018078 True small intestinal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003362 MONDO:0006414 True cutaneous leiomyosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003363 MONDO:0002300 True malignant dermis tumor dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003363 MONDO:0002898 True malignant dermis tumor skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003364 MONDO:0002857 True gallbladder leiomyosarcoma gallbladder sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003364 MONDO:0005058 True gallbladder leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003365 MONDO:0001204 True esophagus leiomyosarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003365 MONDO:0005058 True esophagus leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003366 MONDO:0006816 True hydrarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003367 MONDO:0001056 True gastric leiomyosarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003367 MONDO:0005058 True gastric leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003368 MONDO:0002854 True prostate leiomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003368 MONDO:0005058 True prostate leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003369 MONDO:0002140 True vagina leiomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003369 MONDO:0005058 True vagina leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003370 MONDO:0001501 True retroperitoneal leiomyosarcoma retroperitoneal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003370 MONDO:0005058 True retroperitoneal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003371 MONDO:0002490 True breast leiomyosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003371 MONDO:0005058 True breast leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003372 MONDO:0005058 True vulvar leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003372 MONDO:0005214 True vulvar leiomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003373 MONDO:0002930 True kidney leiomyosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003373 MONDO:0005058 True kidney leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003374 MONDO:0002448 True laryngeal leiomyosarcoma laryngeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003374 MONDO:0005058 True laryngeal leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003376 MONDO:0002852 True mediastinum leiomyosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003376 MONDO:0005058 True mediastinum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003377 MONDO:0003090 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003377 MONDO:0024658 True extrahepatic bile duct leiomyosarcoma extrahepatic bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003378 MONDO:0002397 True liver leiomyosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003378 MONDO:0005058 True liver leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003379 MONDO:0002168 True rectum leiomyosarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003379 MONDO:0005058 True rectum leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003381 MONDO:0005151 True pituitary gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003383 MONDO:0002746 True fallopian tube clear cell adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003383 MONDO:0005004 True fallopian tube clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003384 MONDO:0002741 True uterine ligament clear cell adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003386 MONDO:0002751 True bladder clear cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003386 MONDO:0005004 True bladder clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003387 MONDO:0003200 True urethra clear cell adenocarcinoma urethra adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003387 MONDO:0005004 True urethra clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003388 MONDO:0002670 True ampulla of vater clear cell adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003389 MONDO:0004993 True epithelial-myoepithelial carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003390 MONDO:0004953 True glycogen-rich clear cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003390 MONDO:0005004 True glycogen-rich clear cell breast carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003390 MONDO:0045055 True glycogen-rich clear cell breast carcinoma glycogen-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003391 MONDO:0005214 True vulvar alveolar soft part sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003391 MONDO:0011655 True vulvar alveolar soft part sarcoma alveolar soft part sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003392 MONDO:0005040 True fallopian tube germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003392 MONDO:0021092 True fallopian tube germ cell tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003393 MONDO:0005046 True thymus gland disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003394 MONDO:0006999 True dental pulp disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003395 MONDO:0003125 True testicular granulosa cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003395 MONDO:0006036 True testicular granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003396 MONDO:0002507 True epulis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003397 MONDO:0002507 True gingival hypertrophy gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003398 MONDO:0001152 True anterograde amnesia amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003399 MONDO:0002073 True pineal region yolk sac tumor malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003400 MONDO:0004479 True childhood endodermal sinus tumor malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003400 MONDO:0005744 True childhood endodermal sinus tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003401 MONDO:0002714 True central nervous system endodermal sinus tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003401 MONDO:0003400 True central nervous system endodermal sinus tumor childhood endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003401 MONDO:0003750 True central nervous system endodermal sinus tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003401 MONDO:0016739 True central nervous system endodermal sinus tumor yolk sac tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003401 MONDO:0020574 True central nervous system endodermal sinus tumor central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003402 MONDO:0002874 True testicular yolk sac tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003402 MONDO:0003403 True testicular yolk sac tumor testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003402 MONDO:0005744 True testicular yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003403 MONDO:0003510 True testicular non-seminomatous germ cell cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003403 MONDO:0006447 True testicular non-seminomatous germ cell cancer testicular non-seminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003404 MONDO:0005744 True adult yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003404 MONDO:0044878 True adult yolk sac tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003405 MONDO:0003000 True adult central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003405 MONDO:0044878 True adult central nervous system germ cell tumor adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003408 MONDO:0018171 True ovarian primitive germ cell tumor malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003410 MONDO:0005153 True Wolffian duct adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003410 MONDO:0005613 True Wolffian duct adenocarcinoma mesonephric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003411 MONDO:0005094 True breast hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003412 MONDO:0005094 True retroperitoneal hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003413 MONDO:0002297 True hair follicle neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003413 MONDO:0002917 True hair follicle neoplasm disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003414 MONDO:0006973 True skin pilomatrix carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003417 MONDO:0003425 True internuclear ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003417 MONDO:0003432 True internuclear ophthalmoplegia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003419 MONDO:0002193 True Bartholin gland adenoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003419 MONDO:0002198 True Bartholin gland adenoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003419 MONDO:0004972 True Bartholin gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003419 MONDO:0036976 True Bartholin gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003421 MONDO:0004972 True mixed cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003421 MONDO:0021043 True mixed cell adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003422 MONDO:0002732 True lung adenoma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003422 MONDO:0004972 True lung adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003422 MONDO:0036976 True lung adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003423 MONDO:0004972 True middle ear adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003423 MONDO:0021482 True middle ear adenoma benign neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003423 MONDO:0036976 True middle ear adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003424 MONDO:0004972 True oncocytic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003424 MONDO:0010795 True oncocytic adenoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003425 MONDO:0001584 True ophthalmoplegia ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003426 MONDO:0004972 True clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003427 MONDO:0002533 True bronchus adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003427 MONDO:0002807 True bronchus adenoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003427 MONDO:0003422 True bronchus adenoma lung adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003428 MONDO:0002328 True brain hemangioma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003429 MONDO:0006373 True functioning pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003431 MONDO:0004972 True lipoadenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003432 MONDO:0001584 True strabismus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003433 MONDO:0004972 True water-clear cell adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003434 MONDO:0001704 True vaginal adenoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003434 MONDO:0004972 True vaginal adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003435 MONDO:0004972 True microcystic adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003437 MONDO:0008433 True occult small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003438 MONDO:0006167 True combined small cell lung carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003438 MONDO:0008433 True combined small cell lung carcinoma small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003439 MONDO:0004987 True urinary bladder villous adenoma urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003441 MONDO:0005395 True dystonic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003442 MONDO:0003443 True bladder papillary urothelial neoplasm papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003442 MONDO:0004987 True bladder papillary urothelial neoplasm urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003443 MONDO:0021096 True papillary urothelial neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003443 MONDO:0024337 True papillary urothelial neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003444 MONDO:0006108 True intrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003445 MONDO:0006108 True extrahepatic bile duct adenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003445 MONDO:0021385 True extrahepatic bile duct adenoma extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003446 MONDO:0002805 True papillary hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003447 MONDO:0002805 True clear cell hidradenoma hidradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003447 MONDO:0003426 True clear cell hidradenoma clear cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003448 MONDO:0021489 True benign spiradenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003450 MONDO:0002090 True eccrine papillary adenoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003452 MONDO:0002467 True cochlear disorder inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003453 MONDO:0020204 True conjunctival intraepithelial neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003453 MONDO:0024475 True conjunctival intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003454 MONDO:0002236 True conjunctival cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003454 MONDO:0020204 True conjunctival cancer conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003455 MONDO:0000385 True bile duct papillary neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003455 MONDO:0021662 True bile duct papillary neoplasm bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003458 MONDO:0006071 True uterine corpus adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003458 MONDO:0021525 True uterine corpus adenofibroma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003459 MONDO:0000644 True cervical adenofibroma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003460 MONDO:0006071 True clear cell adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003461 MONDO:0000645 True fallopian tube serous adenofibroma fallopian tube benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003461 MONDO:0024886 True fallopian tube serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003462 MONDO:0006071 True papillary adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003463 MONDO:0000646 True ovarian endometrioid adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003464 MONDO:0006071 True cystadenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003465 MONDO:0010434 True fibrous synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003466 MONDO:0005067 True spindle cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003467 MONDO:0002852 True mediastinum synovial sarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003467 MONDO:0010434 True mediastinum synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003468 MONDO:0010434 True biphasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003469 MONDO:0005067 True epithelioid cell synovial sarcoma monophasic synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003470 MONDO:0016698 True cellular ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003471 MONDO:0003472 True Pediculus humanus capitis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003472 MONDO:0002875 True lice infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003473 MONDO:0016698 True spinal cord ependymoma ependymoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003474 MONDO:0016698 True tanycytic ependymoma ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003475 MONDO:0016698 True papillary ependymoma ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003476 MONDO:0016698 True clear cell ependymoma ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003477 MONDO:0002911 True brain stem ependymoma brain stem glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003477 MONDO:0016698 True brain stem ependymoma ependymoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003478 MONDO:0016698 True childhood ependymoma ependymoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003478 MONDO:0021079 True childhood ependymoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003480 MONDO:0002073 True pineal region dysgerminoma malignant pineal area germ cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003481 MONDO:0003002 True dysgerminoma of ovary dysgerminoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003481 MONDO:0003408 True dysgerminoma of ovary ovarian primitive germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003482 MONDO:0003472 True Pediculus humanus corporis infestation lice infestation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003486 MONDO:0005096 True basaloid squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003486 MONDO:0006102 True basaloid squamous cell carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003487 MONDO:0005096 True pseudoglandular squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003490 MONDO:0017590 True ampulla of vater squamous cell carcinoma carcinoma of the ampulla of vater SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003492 MONDO:0002463 True lacrimal gland squamous cell carcinoma lacrimal gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003493 MONDO:0005096 True thymus squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003493 MONDO:0006451 True thymus squamous cell carcinoma thymic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003494 MONDO:0005096 True ovarian squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003494 MONDO:0005140 True ovarian squamous cell carcinoma ovarian carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003497 MONDO:0005096 True renal pelvis squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003497 MONDO:0005519 True renal pelvis squamous cell carcinoma renal pelvis carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003499 MONDO:0002529 True sarcomatoid squamous cell skin carcinoma skin squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003500 MONDO:0005496 True squamous cell bile duct carcinoma bile duct carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003501 MONDO:0002944 True external ear squamous cell carcinoma external ear carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003501 MONDO:0010150 True external ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003502 MONDO:0005096 True ureter squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003502 MONDO:0006481 True ureter squamous cell carcinoma ureter carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003503 MONDO:0005096 True fallopian tube squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003503 MONDO:0006206 True fallopian tube squamous cell carcinoma fallopian tube carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003506 MONDO:0000473 True pulmonary artery choriocarcinoma arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003506 MONDO:0005207 True pulmonary artery choriocarcinoma choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003506 MONDO:0006290 True pulmonary artery choriocarcinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003506 MONDO:0040676 True pulmonary artery choriocarcinoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003507 MONDO:0005207 True choriocarcinoma of ovary choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003507 MONDO:0018171 True choriocarcinoma of ovary malignant germ cell tumor of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003508 MONDO:0002871 True choriocarcinoma of testis testicular trophoblastic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003508 MONDO:0003403 True choriocarcinoma of testis testicular non-seminomatous germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003508 MONDO:0005207 True choriocarcinoma of testis choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003509 MONDO:0002073 True pineal region choriocarcinoma malignant pineal area germ cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003509 MONDO:0016740 True pineal region choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0005447 True malignant testicular germ cell tumor testicular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0006290 True malignant testicular germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003510 MONDO:0010108 True malignant testicular germ cell tumor testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003512 MONDO:0006424 True mediastinal mesenchymal tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003512 MONDO:0021386 True mediastinal mesenchymal tumor neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003513 MONDO:0002601 True gastric teratoma teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003513 MONDO:0021085 True gastric teratoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003514 MONDO:0002601 True malignant teratoma teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003514 MONDO:0006290 True malignant teratoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003515 MONDO:0002601 True fallopian tube teratoma teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003515 MONDO:0003392 True fallopian tube teratoma fallopian tube germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003516 MONDO:0002601 True adult teratoma teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003516 MONDO:0044878 True adult teratoma adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003517 MONDO:0002601 True mature teratoma teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003518 MONDO:0002601 True mediastinum teratoma teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003518 MONDO:0021067 True mediastinum teratoma mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003519 MONDO:0002206 True malignant syringoma sweat gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003522 MONDO:0040674 True male orgasm disorder orgasm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003523 MONDO:0000386 True gastrin-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003524 MONDO:0003523 True gastric gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003524 MONDO:0015062 True gastric gastrin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003525 MONDO:0003523 True pancreatic gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003525 MONDO:0019954 True pancreatic gastrin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003529 MONDO:0006939 True acute pyelonephritis pyelonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003531 MONDO:0002512 True papillary eccrine carcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003531 MONDO:0024240 True papillary eccrine carcinoma eccrine carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003532 MONDO:0002512 True breast papillary carcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003534 MONDO:0002512 True papillary thymic adenocarcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003534 MONDO:0003209 True papillary thymic adenocarcinoma thymus gland adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003535 MONDO:0002746 True fallopian tube papillary adenocarcinoma fallopian tube adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003537 MONDO:0003538 True precursor T-lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003537 MONDO:0024615 True precursor T-lymphoblastic lymphoma/leukemia T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003538 MONDO:0005157 True precursor lymphoblastic lymphoma/leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003539 MONDO:0003540 True T-cell adult acute lymphocytic leukemia acute T cell leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003539 MONDO:0003541 True T-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003540 MONDO:0004967 True acute T cell leukemia acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003541 MONDO:0004967 True adult acute lymphoblastic leukemia acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003542 MONDO:0003394 True dental pulp calcification dental pulp disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003543 MONDO:0003569 True trigeminal nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003543 MONDO:0003620 True trigeminal nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003544 MONDO:0002714 True spinal cord cancer central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003544 MONDO:0021234 True spinal cord cancer spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003546 MONDO:0003569 True third cranial nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003546 MONDO:0003620 True third cranial nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003548 MONDO:0006074 True adenosquamous breast carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003550 MONDO:0006074 True esophageal adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003551 MONDO:0006074 True thymic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003554 MONDO:0006157 True adenosquamous colon carcinoma colorectal adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003555 MONDO:0006074 True Bartholin gland adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003556 MONDO:0006074 True endometrial adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003557 MONDO:0002640 True optic nerve sheath meningioma optic nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003557 MONDO:0016642 True optic nerve sheath meningioma meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003558 MONDO:0006074 True adenosquamous prostate carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003561 MONDO:0002142 True malignant giant cell tumor of soft parts undifferentiated pleomorphic sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003561 MONDO:0002402 True malignant giant cell tumor of soft parts malignant giant cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003563 MONDO:0002771 True diffuse pulmonary fibrosis pulmonary fibrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003564 MONDO:0002771 True localized pulmonary fibrosis pulmonary fibrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003565 MONDO:0021239 True urethral villous adenoma urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003567 MONDO:0002467 True bilateral hypoactive labyrinth inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003569 MONDO:0005071 True cranial nerve neuropathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003570 MONDO:0004993 True lipid-rich carcinoma carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003572 MONDO:0005232 True nasopharyngeal type undifferentiated carcinoma large cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003573 MONDO:0006406 True pleomorphic carcinoma sarcomatoid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003574 MONDO:0003277 True external ear cancer malignant ear neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003574 MONDO:0004532 True external ear cancer auditory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003574 MONDO:0021235 True external ear cancer external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003575 MONDO:0004993 True comedocarcinoma carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003578 MONDO:0003113 True extragonadal nonseminomatous germ cell tumor extragonadal germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003579 MONDO:0001834 True retinal nerve fiber layer disorder visual pathway disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003579 MONDO:0005283 True retinal nerve fiber layer disorder retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003581 MONDO:0005440 True ovarian embryonal carcinoma embryonal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003581 MONDO:0016096 True ovarian embryonal carcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003582 MONDO:0000426 True hereditary breast ovarian cancer syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003584 MONDO:0001834 True visual cortex disorder visual pathway disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003585 MONDO:0005060 True adult liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003586 MONDO:0001204 True esophagus liposarcoma esophagus sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003586 MONDO:0005060 True esophagus liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003587 MONDO:0005060 True pediatric liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003587 MONDO:0006517 True pediatric liposarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003588 MONDO:0002448 True larynx liposarcoma laryngeal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003588 MONDO:0005060 True larynx liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003589 MONDO:0002225 True liposarcoma of the ovary ovarian sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003589 MONDO:0005060 True liposarcoma of the ovary liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003590 MONDO:0005060 True fibroblastic liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003591 MONDO:0002930 True kidney liposarcoma kidney sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003591 MONDO:0005060 True kidney liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003592 MONDO:0001056 True gastric liposarcoma gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003592 MONDO:0005060 True gastric liposarcoma liposarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003593 MONDO:0002490 True breast liposarcoma breast sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003593 MONDO:0005060 True breast liposarcoma liposarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003594 MONDO:0005060 True mixed liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003599 MONDO:0005060 True vulvar liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003599 MONDO:0005214 True vulvar liposarcoma vulva sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003600 MONDO:0005060 True cutaneous liposarcoma liposarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003600 MONDO:0006414 True cutaneous liposarcoma skin sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003601 MONDO:0002852 True mediastinum liposarcoma mediastinum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003601 MONDO:0005060 True mediastinum liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003602 MONDO:0005060 True intracranial liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003606 MONDO:0002817 True adrenal medulla cancer adrenal gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003606 MONDO:0021237 True adrenal medulla cancer adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003608 MONDO:0002135 True optic atrophy optic nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003609 MONDO:0002369 True seminal vesicle cystadenoma cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003609 MONDO:0002790 True seminal vesicle cystadenoma seminal vesicle tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003610 MONDO:0004005 True rete ovarii cystadenoma rete ovarii adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003611 MONDO:0021091 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003611 MONDO:0021629 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003612 MONDO:0021629 True uterine ligament cancer uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003614 MONDO:0003295 True intravenous leiomyomatosis leiomyomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003616 MONDO:0003617 True salpingitis isthmica nodosa chronic salpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003617 MONDO:0003619 True chronic salpingitis salpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003618 MONDO:0003619 True pyosalpinx salpingitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003619 MONDO:0002156 True salpingitis fallopian tube disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003620 MONDO:0005071 True peripheral nervous system disorder nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003621 MONDO:0002995 True small intestinal vasoactive intestinal peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003621 MONDO:0019960 True small intestinal vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003622 MONDO:0019960 True pancreatic vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003624 MONDO:0004965 True acinic cell breast carcinoma acinar cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003626 MONDO:0002741 True uterine ligament serous adenocarcinoma uterine ligament adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003627 MONDO:0000603 True rheumatic pulmonary valve disease autoimmune disorder of cardiovascular system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003627 MONDO:0003628 True rheumatic pulmonary valve disease pulmonary valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003628 MONDO:0002869 True pulmonary valve disorder heart valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003629 MONDO:0006003 True uterine corpus serous adenocarcinoma uterine corpus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003630 MONDO:0002810 True pancreatic serous cystadenocarcinoma pancreatic serous cystic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003630 MONDO:0002867 True pancreatic serous cystadenocarcinoma pancreatic cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003630 MONDO:0024621 True pancreatic serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003631 MONDO:0005153 True cervical serous adenocarcinoma cervical adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003631 MONDO:0005278 True cervical serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003632 MONDO:0002345 True endocervicitis cervicitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003633 MONDO:0004992 True malignant mesenchymoma cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003633 MONDO:0006854 True malignant mesenchymoma mesenchymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003634 MONDO:0005240 True proteinuria kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003635 MONDO:0004988 True sebaceous breast carcinoma breast adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003635 MONDO:0006256 True sebaceous breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003635 MONDO:0006962 True sebaceous breast carcinoma sebaceous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003636 MONDO:0006962 True vulvar sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003636 MONDO:0024336 True vulvar sebaceous carcinoma vulvar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003637 MONDO:0002732 True clear cell-sugar-tumor of the lung lung benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003637 MONDO:0020581 True clear cell-sugar-tumor of the lung benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003637 MONDO:0020588 True clear cell-sugar-tumor of the lung lung PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003638 MONDO:0008903 True lung meningioma lung cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003638 MONDO:0016642 True lung meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003639 MONDO:0021117 True lung hilum neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003641 MONDO:0006130 True central nervous system hematopoietic neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003641 MONDO:0044881 True central nervous system hematopoietic neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003643 MONDO:0003155 True giant hemangioma cavernous hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003644 MONDO:0002278 True cavernous hemangioma of colon benign colon neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003644 MONDO:0003155 True cavernous hemangioma of colon cavernous hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003645 MONDO:0003155 True cavernous hemangioma of face cavernous hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003646 MONDO:0002883 True rectum neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003647 MONDO:0003648 True atrophic flaccid tympanic membrane tympanic membrane disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003648 MONDO:0003276 True tympanic membrane disorder middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003649 MONDO:0000386 True esophageal neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003649 MONDO:0021355 True esophageal neuroendocrine tumor neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003650 MONDO:0018666 True mixed hepatoblastoma hepatoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003651 MONDO:0018666 True macrotrabecular hepatoblastoma hepatoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003652 MONDO:0008171 True acute urate nephropathy nephrolithiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003654 MONDO:0002623 True childhood parosteal osteosarcoma pediatric osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003654 MONDO:0006817 True childhood parosteal osteosarcoma juxtacortical osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003655 MONDO:0002571 True cerebral lymphoma primary central nervous system lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003655 MONDO:0002731 True cerebral lymphoma cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003656 MONDO:0003634 True hemoglobinuria proteinuria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003658 MONDO:0005062 True B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003659 MONDO:0005062 True pediatric lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003659 MONDO:0006517 True pediatric lymphoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003660 MONDO:0005062 True adult lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003661 MONDO:0005062 True breast lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003661 MONDO:0007254 True breast lymphoma breast cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003663 MONDO:0002741 True uterine ligament endometrioid adenocarcinoma uterine ligament adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003664 MONDO:0004139 True hemolytic anemia normocytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003665 MONDO:0005026 True cervical endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003665 MONDO:0005153 True cervical endometrioid adenocarcinoma cervical adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003666 MONDO:0002746 True fallopian tube endometrioid adenocarcinoma fallopian tube adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003666 MONDO:0005026 True fallopian tube endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003668 MONDO:0003001 True extragonadal seminoma seminoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003668 MONDO:0003113 True extragonadal seminoma extragonadal germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003669 MONDO:0002874 True testicular seminoma testicular pure germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003669 MONDO:0003001 True testicular seminoma seminoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003669 MONDO:0003510 True testicular seminoma malignant testicular germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003670 MONDO:0005068 True posteroinferior myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003671 MONDO:0005068 True septal myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003672 MONDO:0005068 True posterior myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003673 MONDO:0005068 True apical myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003674 MONDO:0005068 True subendocardial myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003675 MONDO:0005068 True posterolateral myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003676 MONDO:0005068 True inferolateral myocardial infarct myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003677 MONDO:0005068 True lateral myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003678 MONDO:0005068 True silent myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003679 MONDO:0005068 True anteroseptal myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003680 MONDO:0021054 True periosteal chondrosarcoma bone sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003681 MONDO:0008977 True myxoid chondrosarcoma chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003682 MONDO:0008977 True localized chondrosarcoma chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003684 MONDO:0021054 True clear cell chondrosarcoma bone sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003685 MONDO:0005040 True retroperitoneal germ cell neoplasm germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003685 MONDO:0024645 True retroperitoneal germ cell neoplasm retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003686 MONDO:0002381 True apocrine sweat gland neoplasm sweat gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003687 MONDO:0001340 True endocardium cancer heart cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003687 MONDO:0021378 True endocardium cancer neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003689 MONDO:0003664 True familial hemolytic anemia hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003690 MONDO:0016700 True adult anaplastic ependymoma anaplastic ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003691 MONDO:0003633 True childhood malignant mesenchymoma malignant mesenchymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003692 MONDO:0003633 True adult malignant mesenchymoma malignant mesenchymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003693 MONDO:0003460 True clear cell cystadenofibroma clear cell adenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003693 MONDO:0003464 True clear cell cystadenofibroma cystadenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003694 MONDO:0003693 True ovarian clear cell cystadenofibroma clear cell cystadenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003694 MONDO:0003695 True ovarian clear cell cystadenofibroma ovarian clear cell adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003695 MONDO:0000646 True ovarian clear cell adenofibroma ovarian benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003695 MONDO:0003460 True ovarian clear cell adenofibroma clear cell adenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003697 MONDO:0003698 True non-invasive verrucous carcinoma of the penis penis verrucous carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003698 MONDO:0004433 True penis verrucous carcinoma papillary carcinoma of the penis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003698 MONDO:0006006 True penis verrucous carcinoma verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003699 MONDO:0005618 True phobic disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003700 MONDO:0003100 True brachial plexus neoplasm nerve plexus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003701 MONDO:0005075 True thyroid gland diffuse sclerosing papillary carcinoma thyroid gland papillary carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003702 MONDO:0000632 True uterus intravascular leiomyomatosis uterine benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003702 MONDO:0003614 True uterus intravascular leiomyomatosis intravenous leiomyomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003704 MONDO:0003295 True uterine corpus diffuse leiomyomatosis leiomyomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003704 MONDO:0007886 True uterine corpus diffuse leiomyomatosis uterine corpus leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003705 MONDO:0003153 True adult brainstem mixed glioma adult brainstem glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003706 MONDO:0002503 True adult brainstem astrocytoma adult astrocytic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003706 MONDO:0003153 True adult brainstem astrocytoma adult brainstem glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003706 MONDO:0003173 True adult brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003707 MONDO:0003090 True distal biliary tract carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003708 MONDO:0000402 True extrahepatic bile duct small cell adenocarcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003708 MONDO:0002665 True extrahepatic bile duct small cell adenocarcinoma extrahepatic bile duct adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003709 MONDO:0003699 True agoraphobia phobic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003710 MONDO:0003408 True ovarian mixed germ cell neoplasm ovarian primitive germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003710 MONDO:0015864 True ovarian mixed germ cell neoplasm mixed germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003712 MONDO:0003143 True angiokeratoma of mibelli angiokeratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003714 MONDO:0002760 True bladder urachal squamous cell carcinoma bladder squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003714 MONDO:0003715 True bladder urachal squamous cell carcinoma bladder urachal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003715 MONDO:0004986 True bladder urachal carcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003716 MONDO:0003717 True renal pelvis papillary urothelial carcinoma renal pelvis papillary tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003716 MONDO:0005221 True renal pelvis papillary urothelial carcinoma renal pelvis urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003716 MONDO:0006350 True renal pelvis papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003717 MONDO:0003443 True renal pelvis papillary tumor papillary urothelial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003717 MONDO:0003719 True renal pelvis papillary tumor renal pelvis neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003718 MONDO:0011057 True occlusion precerebral artery cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003719 MONDO:0021163 True renal pelvis neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003720 MONDO:0002930 True kidney fibrosarcoma kidney sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003720 MONDO:0005164 True kidney fibrosarcoma fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003721 MONDO:0002621 True kidney osteogenic sarcoma extraosseous osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003721 MONDO:0002930 True kidney osteogenic sarcoma kidney sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003722 MONDO:0003121 True internal auditory canal meningioma middle cranial fossa meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003724 MONDO:0005219 True non-proliferative fibrocystic change of the breast breast fibrocystic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003725 MONDO:0002657 True breast adenosis breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003726 MONDO:0003724 True apocrine adenosis of breast non-proliferative fibrocystic change of the breast SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003727 MONDO:0012000 True animal phobia specific phobia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003728 MONDO:0002490 True breast fibrosarcoma breast sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003728 MONDO:0005164 True breast fibrosarcoma fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003729 MONDO:0003730 True aleukemic leukemia cutis aleukemic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003730 MONDO:0005059 True aleukemic leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003731 MONDO:0002718 True adult central nervous system teratoma central nervous system teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003731 MONDO:0003405 True adult central nervous system teratoma adult central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003731 MONDO:0003516 True adult central nervous system teratoma adult teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003732 MONDO:0003731 True adult central nervous system mature teratoma adult central nervous system teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003732 MONDO:0003733 True adult central nervous system mature teratoma central nervous system mature teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003733 MONDO:0002718 True central nervous system mature teratoma central nervous system teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003733 MONDO:0003517 True central nervous system mature teratoma mature teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003734 MONDO:0003731 True adult central nervous system immature teratoma adult central nervous system teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003734 MONDO:0003735 True adult central nervous system immature teratoma central nervous system immature teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003735 MONDO:0002718 True central nervous system immature teratoma central nervous system teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003736 MONDO:0000600 True cancerophobia nosophobia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003737 MONDO:0000377 True malignant testicular Leydig cell tumor malignant Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003737 MONDO:0003124 True malignant testicular Leydig cell tumor testicular Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003738 MONDO:0001342 True selective IgE deficiency disease dysgammaglobulinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003739 MONDO:0002211 True selective immunoglobulin deficiency disease B cell deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003740 MONDO:0000600 True AIDS phobia nosophobia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003741 MONDO:0003395 True juvenile type testicular granulosa cell tumor testicular granulosa cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003742 MONDO:0003354 True heart fibrosarcoma heart sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003742 MONDO:0005164 True heart fibrosarcoma fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003743 MONDO:0005094 True heart malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003744 MONDO:0006427 True spindle cell intraocular melanoma spindle cell melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003744 MONDO:0006486 True spindle cell intraocular melanoma uveal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003745 MONDO:0003744 True choroid spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003745 MONDO:0003878 True choroid spindle cell melanoma malignant choroid melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003746 MONDO:0003912 True ciliary body spindle cell melanoma malignant ciliary body melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003747 MONDO:0002298 True telangiectatic glomangioma cutaneous glomangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003748 MONDO:0012000 True flying phobia specific phobia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003749 MONDO:0004335 True esophageal disorder digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003750 MONDO:0003000 True childhood central nervous system germ cell tumor central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003750 MONDO:0003751 True childhood central nervous system germ cell tumor childhood germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003751 MONDO:0005040 True childhood germ cell tumor germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003751 MONDO:0021079 True childhood germ cell tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003752 MONDO:0006353 True frontal sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003752 MONDO:0021483 True frontal sinus Schneiderian papilloma benign neoplasm of frontal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003753 MONDO:0001825 True nasal vestibule squamous papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003753 MONDO:0021475 True nasal vestibule squamous papilloma benign neoplasm of nasal cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003754 MONDO:0003757 True Brown-Sequard syndrome paraplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003755 MONDO:0024337 True urinary tract non-invasive transitional cell neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003756 MONDO:0002229 True ovarian mucinous neoplasm ovarian epithelial tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003758 MONDO:0010108 True childhood testicular germ cell tumor testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003758 MONDO:0020577 True childhood testicular germ cell tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003758 MONDO:0037250 True childhood testicular germ cell tumor childhood testicular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003759 MONDO:0003400 True childhood ovarian yolk sac tumor childhood endodermal sinus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003759 MONDO:0003760 True childhood ovarian yolk sac tumor pediatric ovarian germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003759 MONDO:0006344 True childhood ovarian yolk sac tumor ovarian yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003759 MONDO:0020577 True childhood ovarian yolk sac tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003760 MONDO:0003751 True pediatric ovarian germ cell tumor childhood germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003760 MONDO:0011366 True pediatric ovarian germ cell tumor ovarian germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003761 MONDO:0003762 True leptomeningeal melanoma malignant leptomeningeal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003761 MONDO:0016747 True leptomeningeal melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003762 MONDO:0016642 True malignant leptomeningeal tumor meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003762 MONDO:0021322 True malignant leptomeningeal tumor malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003763 MONDO:0005618 True acute stress disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003764 MONDO:0003761 True pediatric leptomeningeal melanoma leptomeningeal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003765 MONDO:0003761 True adult leptomeningeal melanoma leptomeningeal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003766 MONDO:0002786 True thalamic cancer diencephalic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003767 MONDO:0002869 True mitral valve disorder heart valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003768 MONDO:0002742 True signet ring cell variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003768 MONDO:0005092 True signet ring cell variant cervical mucinous adenocarcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003769 MONDO:0002270 True herpetic gastritis viral gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003770 MONDO:0001279 True thoracic spinal canal and spinal cord meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003771 MONDO:0016642 True jugular foramen meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003772 MONDO:0000642 True cerebral meningioma brain meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003772 MONDO:0002731 True cerebral meningioma cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003773 MONDO:0003772 True intracerebral cystic meningioma cerebral meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003774 MONDO:0003772 True cerebral convexity meningioma cerebral meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003775 MONDO:0002772 True lateral ventricle meningioma intraventricular meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003775 MONDO:0003772 True lateral ventricle meningioma cerebral meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003776 MONDO:0003777 True renal pelvis inverted papilloma renal pelvis urothelial papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003776 MONDO:0021109 True renal pelvis inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003777 MONDO:0003717 True renal pelvis urothelial papilloma renal pelvis papillary tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003777 MONDO:0004041 True renal pelvis urothelial papilloma urothelial papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003777 MONDO:0021467 True renal pelvis urothelial papilloma benign neoplasm of renal pelvis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003781 MONDO:0001358 True bronchitis bronchial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003782 MONDO:0003356 True uterine corpus epithelioid leiomyosarcoma epithelioid leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003782 MONDO:0016262 True uterine corpus epithelioid leiomyosarcoma leiomyosarcoma of the corpus uteri SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003783 MONDO:0003785 True lymphopenia leukopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003784 MONDO:0003212 True nasal cavity carcinoma in situ nasal cavity carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003784 MONDO:0004647 True nasal cavity carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003785 MONDO:0004805 True leukopenia leukocyte disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003786 MONDO:0003508 True childhood testicular choriocarcinoma choriocarcinoma of testis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003786 MONDO:0003758 True childhood testicular choriocarcinoma childhood testicular germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003786 MONDO:0004479 True childhood testicular choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003787 MONDO:0003120 True childhood testicular mixed germ cell cancer mixed testicular germ cell cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003787 MONDO:0003758 True childhood testicular mixed germ cell cancer childhood testicular germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003787 MONDO:0004479 True childhood testicular mixed germ cell cancer malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003788 MONDO:0003758 True childhood embryonal testis carcinoma childhood testicular germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003788 MONDO:0004479 True childhood embryonal testis carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003788 MONDO:0006446 True childhood embryonal testis carcinoma testicular embryonal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003789 MONDO:0003008 True hereditary papillary renal cell carcinoma hereditary renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003789 MONDO:0017884 True hereditary papillary renal cell carcinoma papillary renal cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003790 MONDO:0002834 True prostatic urethra urothelial carcinoma primary prostate urothelial carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003790 MONDO:0002836 True prostatic urethra urothelial carcinoma urethra transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003790 MONDO:0003791 True prostatic urethra urothelial carcinoma prostatic urethral cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003791 MONDO:0004197 True prostatic urethral cancer male urethral cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003792 MONDO:0002928 True ovarian carcinosarcoma carcinosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003792 MONDO:0003812 True ovarian carcinosarcoma ovarian endometrial cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003795 MONDO:0005140 True ovarian small cell carcinoma ovarian carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003796 MONDO:0002168 True rectum Kaposi sarcoma rectum sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003796 MONDO:0024659 True rectum Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003799 MONDO:0006170 True conjunctivitis conjunctival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003800 MONDO:0009330 True conventional malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003801 MONDO:0021238 True corneal intraepithelial neoplasm cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003801 MONDO:0024475 True corneal intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003802 MONDO:0002236 True cornea cancer ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003802 MONDO:0021238 True cornea cancer cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003803 MONDO:0005561 True aortic valve disorder aortic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003806 MONDO:0015074 True thyroid hyalinizing trabecular adenoma thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003808 MONDO:0002621 True mediastinal extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003809 MONDO:0009330 True malignant mediastinum hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003810 MONDO:0003386 True bladder diffuse clear cell adenocarcinoma bladder clear cell adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003811 MONDO:0002229 True ovarian seromucinous tumor ovarian epithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003812 MONDO:0002480 True ovarian endometrial cancer endometrioid tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003812 MONDO:0018364 True ovarian endometrial cancer malignant epithelial tumor of ovary UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003813 MONDO:0002229 True ovarian papillary tumor ovarian epithelial tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003813 MONDO:0021096 True ovarian papillary tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003818 MONDO:0003819 True childhood mature teratoma of the ovary childhood teratoma of the ovary UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003818 MONDO:0003820 True childhood mature teratoma of the ovary mature ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003819 MONDO:0003760 True childhood teratoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003819 MONDO:0005602 True childhood teratoma of the ovary ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003820 MONDO:0003517 True mature ovarian teratoma mature teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003820 MONDO:0003821 True mature ovarian teratoma ovarian biphasic or triphasic teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003821 MONDO:0005602 True ovarian biphasic or triphasic teratoma ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003822 MONDO:0003442 True non-invasive bladder papillary urothelial neoplasm bladder papillary urothelial neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003822 MONDO:0003755 True non-invasive bladder papillary urothelial neoplasm urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003824 MONDO:0003825 True hereditary kidney oncocytoma kidney oncocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003825 MONDO:0002513 True kidney oncocytoma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003825 MONDO:0010795 True kidney oncocytoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003825 MONDO:0036976 True kidney oncocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003826 MONDO:0003668 True mediastinum seminoma extragonadal seminoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003826 MONDO:0006298 True mediastinum seminoma mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003828 MONDO:0002109 True growth hormone-producing pituitary gland carcinoma pituitary cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003829 MONDO:0002395 True chromophil adenoma of the kidney renal adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003829 MONDO:0002533 True chromophil adenoma of the kidney papillary adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003830 MONDO:0003829 True type 1 papillary adenoma of the kidney chromophil adenoma of the kidney SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003831 MONDO:0003829 True type 2 papillary adenoma of the kidney chromophil adenoma of the kidney SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003832 MONDO:0003778 True complement deficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003834 MONDO:0001063 True gastric cardia carcinoma cardia cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003834 MONDO:0004950 True gastric cardia carcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003835 MONDO:0003834 True gastric cardia adenocarcinoma gastric cardia carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003835 MONDO:0005036 True gastric cardia adenocarcinoma gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003836 MONDO:0003837 True malignant thyroid stimulating hormone producing neoplasm of pituitary gland TSH producing pituitary tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003837 MONDO:0003429 True TSH producing pituitary tumor functioning pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003839 MONDO:0002991 True ovarian mucinous adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003839 MONDO:0024282 True ovarian mucinous adenocarcinofibroma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003840 MONDO:0003841 True epicardium lipoma heart lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003840 MONDO:0021508 True epicardium lipoma benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003841 MONDO:0005106 True heart lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003841 MONDO:0021450 True heart lipoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003842 MONDO:0002505 True childhood cerebellar astrocytic neoplasm childhood astrocytic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003842 MONDO:0003165 True childhood cerebellar astrocytic neoplasm cerebellar astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003842 MONDO:0003263 True childhood cerebellar astrocytic neoplasm childhood cerebellar neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003843 MONDO:0003844 True cerebral hemisphere lipoma central nervous system lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003843 MONDO:0021497 True cerebral hemisphere lipoma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003844 MONDO:0000628 True central nervous system lipoma central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003844 MONDO:0005106 True central nervous system lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003845 MONDO:0003843 True corpus callosum lipoma cerebral hemisphere lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003846 MONDO:0001409 True viral esophagitis esophagitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003846 MONDO:0005108 True viral esophagitis viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003848 MONDO:0003393 True ectopic thymus thymus gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003849 MONDO:0002892 True clivus chordoma skull base chordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003850 MONDO:0003849 True clivus chondroid chordoma clivus chordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003850 MONDO:0006145 True clivus chondroid chordoma chondroid chordoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003851 MONDO:0003820 True ovarian fetiform teratoma mature ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003852 MONDO:0003820 True ovarian solid teratoma mature ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003853 MONDO:0002829 True Bartholin gland adenocarcinoma bartholin gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003853 MONDO:0024336 True Bartholin gland adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003856 MONDO:0009330 True adult malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003857 MONDO:0037740 True adult intracranial malignant hemangiopericytoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003858 MONDO:0024648 True anterior optic tract meningioma optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003859 MONDO:0002640 True bilateral meningioma of optic nerve optic nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003859 MONDO:0024648 True bilateral meningioma of optic nerve optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003860 MONDO:0000642 True cerebellopontine angle meningioma brain meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003860 MONDO:0002553 True cerebellopontine angle meningioma cerebellopontine angle tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003861 MONDO:0024240 True vulvar eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003861 MONDO:0024336 True vulvar eccrine adenocarcinoma vulvar adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003862 MONDO:0003863 True melanotic psammomatous malignant peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003863 MONDO:0017827 True malignant melanocytic neoplasm of the peripheral nerve sheath malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003864 MONDO:0004948 True chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003865 MONDO:0005012 True acral lentiginous melanoma cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003866 MONDO:0002397 True liver extraskeletal osteosarcoma liver sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003866 MONDO:0002621 True liver extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003867 MONDO:0003222 True diffuse meningeal melanocytosis central nervous system melanocytic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003868 MONDO:0003109 True anterior foramen magnum meningioma foramen magnum meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003869 MONDO:0002911 True childhood brain stem glioma brain stem glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003869 MONDO:0002914 True childhood brain stem glioma childhood brain stem neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003870 MONDO:0002505 True childhood brainstem astrocytoma childhood astrocytic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003870 MONDO:0003173 True childhood brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003870 MONDO:0003869 True childhood brainstem astrocytoma childhood brain stem glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003872 MONDO:0003813 True ovarian papillary cystadenoma ovarian papillary tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003872 MONDO:0005183 True ovarian papillary cystadenoma ovarian cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003873 MONDO:0000646 True ovarian surface papilloma ovarian benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003873 MONDO:0002362 True ovarian surface papilloma serous surface papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003873 MONDO:0003813 True ovarian surface papilloma ovarian papillary tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003874 MONDO:0002512 True ovarian serous surface papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003874 MONDO:0003813 True ovarian serous surface papillary adenocarcinoma ovarian papillary tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003874 MONDO:0005211 True ovarian serous surface papillary adenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003875 MONDO:0003733 True childhood central nervous system mature teratoma central nervous system mature teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003875 MONDO:0003750 True childhood central nervous system mature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003876 MONDO:0002466 True eyelid carcinoma eye carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003876 MONDO:0002656 True eyelid carcinoma skin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003876 MONDO:0021313 True eyelid carcinoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003878 MONDO:0006486 True malignant choroid melanoma uveal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003878 MONDO:0006700 True malignant choroid melanoma choroid cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003879 MONDO:0008170 True ovarian endometrioid adenocarcinofibroma ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003880 MONDO:0002944 True ceruminous carcinoma external ear carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003880 MONDO:0003214 True ceruminous carcinoma apocrine adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003881 MONDO:0003214 True vulvar apocrine adenocarcinoma apocrine adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003881 MONDO:0024336 True vulvar apocrine adenocarcinoma vulvar adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003882 MONDO:0002217 True central nervous system fibrosarcoma central nervous system sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003882 MONDO:0005164 True central nervous system fibrosarcoma fibrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003884 MONDO:0003885 True lipoma of the rectum colorectal lipoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003884 MONDO:0021462 True lipoma of the rectum benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003885 MONDO:0005106 True colorectal lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003885 MONDO:0021444 True colorectal lipoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003886 MONDO:0002398 True mucinous cystadenofibroma mucinous adenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003886 MONDO:0003464 True mucinous cystadenofibroma cystadenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003887 MONDO:0000646 True ovarian mucinous adenofibroma ovarian benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003887 MONDO:0002229 True ovarian mucinous adenofibroma ovarian epithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003887 MONDO:0002398 True ovarian mucinous adenofibroma mucinous adenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003888 MONDO:0003787 True childhood testicular mixed embryonal carcinoma and teratoma childhood testicular mixed germ cell cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003889 MONDO:0003890 True infiltrating bladder urothelial carcinoma, clear cell variant infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003890 MONDO:0005611 True infiltrating bladder urothelial carcinoma bladder transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003890 MONDO:0040678 True infiltrating bladder urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003891 MONDO:0002751 True bladder signet ring cell adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003891 MONDO:0005092 True bladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003892 MONDO:0005061 True acinar lung adenocarcinoma lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003893 MONDO:0003562 True rete testis adenoma rete testis neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003893 MONDO:0004972 True rete testis adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003894 MONDO:0002558 True mediastinal melanocytic neurilemmoma melanotic neurilemmoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003895 MONDO:0002628 True periosteal osteogenic sarcoma peripheral osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003896 MONDO:0002407 True breast capillary hemangioma capillary hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003896 MONDO:0003126 True breast capillary hemangioma breast hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003897 MONDO:0003126 True breast epithelioid hemangioma breast hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003897 MONDO:0021169 True breast epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003898 MONDO:0003681 True pediatric myxoid chondrosarcoma myxoid chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003898 MONDO:0006517 True pediatric myxoid chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003901 MONDO:0016748 True cerebellar hemangioblastoma hemangioblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003902 MONDO:0016748 True brain stem hemangioblastoma hemangioblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003903 MONDO:0001731 True benign vaginal mixed tumor benign vaginal mixed epithelial and mesenchymal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003904 MONDO:0005097 True lung occult squamous cell carcinoma squamous cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003905 MONDO:0006344 True ovarian yolk sac tumor, glandular pattern ovarian yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003906 MONDO:0006344 True ovarian yolk sac tumor, hepatoid pattern ovarian yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003907 MONDO:0006344 True ovarian yolk sac tumor, polyvesicular vitelline pattern ovarian yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003908 MONDO:0002919 True clivus meningioma posterior cranial fossa meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003908 MONDO:0002998 True clivus meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003909 MONDO:0002193 True Bartholin gland adenomyoma Bartholin gland benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003909 MONDO:0002198 True Bartholin gland adenomyoma vulvar glandular neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003909 MONDO:0036976 True Bartholin gland adenomyoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003910 MONDO:0006486 True mixed cell uveal melanoma uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003911 MONDO:0003910 True ciliary body mixed cell melanoma mixed cell uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003911 MONDO:0003912 True ciliary body mixed cell melanoma malignant ciliary body melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003912 MONDO:0002969 True malignant ciliary body melanoma ciliary body cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003913 MONDO:0003878 True choroid mixed cell melanoma malignant choroid melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003913 MONDO:0003910 True choroid mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003915 MONDO:0016974 True cortical thymoma thymoma type B SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003916 MONDO:0005137 True overnutrition nutritional disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003917 MONDO:0001340 True heart lymphoma heart cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003917 MONDO:0005062 True heart lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003918 MONDO:0016642 True angiomatous meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003921 MONDO:0003109 True posterior foramen magnum meningioma foramen magnum meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003922 MONDO:0000548 True ovarian clear cell malignant adenofibroma ovarian clear cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003923 MONDO:0006353 True ethmoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003923 MONDO:0021515 True ethmoid sinus Schneiderian papilloma benign neoplasm of ethmoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003924 MONDO:0004972 True adrenal cortex adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003924 MONDO:0021511 True adrenal cortex adenoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003924 MONDO:0036591 True adrenal cortex adenoma adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003924 MONDO:0036976 True adrenal cortex adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003925 MONDO:0002537 True ethmoid sinus inverted papilloma inverted papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003925 MONDO:0003923 True ethmoid sinus inverted papilloma ethmoid sinus Schneiderian papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003926 MONDO:0004820 True neurilemmoma of the pleura peripheral nerve schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003927 MONDO:0006486 True posterior uveal melanoma uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003928 MONDO:0003359 True uterine corpus myxoid leiomyosarcoma myxoid leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003928 MONDO:0016262 True uterine corpus myxoid leiomyosarcoma leiomyosarcoma of the corpus uteri SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003929 MONDO:0002194 True vestibular micropapillomatosis vestibular papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003930 MONDO:0005611 True non-invasive bladder urothelial carcinoma bladder transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003931 MONDO:0024649 True childhood optic tract astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003932 MONDO:0003235 True childhood optic nerve glioma optic nerve glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003932 MONDO:0021079 True childhood optic nerve glioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003933 MONDO:0002129 True chest wall bone cancer bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003933 MONDO:0021323 True chest wall bone cancer malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003934 MONDO:0003214 True breast apocrine carcinoma apocrine adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003935 MONDO:0004988 True oncocytic breast carcinoma breast adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003935 MONDO:0006256 True oncocytic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003936 MONDO:0005606 True invasive tubular breast carcinoma tubular adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003938 MONDO:0002751 True bladder colonic type adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003939 MONDO:0002081 True muscle tissue disorder musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003940 MONDO:0005095 True Kummell disease spondyloarthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003941 MONDO:0017885 True classic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003942 MONDO:0017885 True eosinophilic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003943 MONDO:0003844 True central nervous system hibernoma central nervous system lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003943 MONDO:0021168 True central nervous system hibernoma hibernoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003944 MONDO:0003293 True endobronchial leiomyoma lung leiomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003945 MONDO:0021169 True bone epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003946 MONDO:0003434 True vaginal villous adenoma vaginal adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003947 MONDO:0002468 True hyper-IgM syndrome hyperimmunoglobulin syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003948 MONDO:0003428 True cerebral hemangioma brain hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003948 MONDO:0021497 True cerebral hemangioma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003950 MONDO:0002482 True nipple carcinoma nipple neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003950 MONDO:0004989 True nipple carcinoma breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003951 MONDO:0003110 True scrotal hemangioma skin hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003951 MONDO:0021472 True scrotal hemangioma benign neoplasm of scrotum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003952 MONDO:0003405 True adult central nervous system choriocarcinoma adult central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003952 MONDO:0016740 True adult central nervous system choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003953 MONDO:0003750 True pediatric CNS choriocarcinoma childhood central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003953 MONDO:0004479 True pediatric CNS choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003953 MONDO:0016740 True pediatric CNS choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003955 MONDO:0004253 True juvenile breast papillomatosis intraductal breast papillomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003956 MONDO:0005381 True Baastrup syndrome bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003957 MONDO:0003248 True adult pineoblastoma adult pineal parenchymal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003957 MONDO:0016722 True adult pineoblastoma pineoblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003958 MONDO:0003735 True childhood central nervous system immature teratoma central nervous system immature teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003958 MONDO:0003750 True childhood central nervous system immature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003959 MONDO:0002485 True breast large cell neuroendocrine carcinoma breast neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003959 MONDO:0005057 True breast large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003959 MONDO:0006256 True breast large cell neuroendocrine carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003960 MONDO:0003050 True pulmonary large cell neuroendocrine carcinoma lung large cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003960 MONDO:0005057 True pulmonary large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003960 MONDO:0005454 True pulmonary large cell neuroendocrine carcinoma lung neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003962 MONDO:0002150 True Froelich syndrome hypothalamic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003963 MONDO:0002254 True diffuse infiltrative lymphocytosis syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003964 MONDO:0021167 True myositis ossificans myositis disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003965 MONDO:0004359 True Capgras syndrome delusional disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003966 MONDO:0003508 True testicular monophasic choriocarcinoma choriocarcinoma of testis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003967 MONDO:0002622 True synchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003968 MONDO:0002622 True asynchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003969 MONDO:0002491 True amphetamine abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003970 MONDO:0004950 True gastric fundus carcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003971 MONDO:0004950 True gastric pylorus carcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003972 MONDO:0004950 True gastric body carcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003973 MONDO:0003669 True tubular variant testicular seminoma testicular seminoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003975 MONDO:0004197 True Littre gland carcinoma male urethral cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003975 MONDO:0021327 True Littre gland carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003976 MONDO:0016975 True malignant type AB thymoma thymoma type AB SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003978 MONDO:0000402 True colon small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003978 MONDO:0002032 True colon small cell neuroendocrine carcinoma colon carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003978 MONDO:0002882 True colon small cell neuroendocrine carcinoma colon neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003979 MONDO:0003420 True intrahepatic bile duct cystadenoma bile duct cystadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003980 MONDO:0004820 True schwannoma of jugular foramen peripheral nerve schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003982 MONDO:0004989 True bilateral breast carcinoma breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003983 MONDO:0003982 True synchronous bilateral breast carcinoma bilateral breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003984 MONDO:0005106 True internal auditory canal lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003984 MONDO:0021474 True internal auditory canal lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003984 MONDO:0024320 True internal auditory canal lipoma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003985 MONDO:0005062 True chest wall lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003985 MONDO:0021323 True chest wall lymphoma malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003987 MONDO:0005062 True lung lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003987 MONDO:0008903 True lung lymphoma lung cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003988 MONDO:0003273 True sternum lymphoma sternum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003989 MONDO:0015863 True polyembryoma of the ovary polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003989 MONDO:0016096 True polyembryoma of the ovary malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003990 MONDO:0002483 True malignant breast myoepithelioma breast myoepithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003990 MONDO:0003158 True malignant breast myoepithelioma malignant myoepithelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003990 MONDO:0006256 True malignant breast myoepithelioma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003991 MONDO:0003204 True villoglandular endometrial endometrioid adenocarcinoma villous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003991 MONDO:0005461 True villoglandular endometrial endometrioid adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003991 MONDO:0006192 True villoglandular endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003992 MONDO:0002578 True childhood botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003992 MONDO:0006517 True childhood botryoid rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003993 MONDO:0003992 True childhood vagina botryoid rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003993 MONDO:0003994 True childhood vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003994 MONDO:0002578 True botryoid-type embryonal rhabdomyosarcoma of the vagina botryoid rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003994 MONDO:0016095 True botryoid-type embryonal rhabdomyosarcoma of the vagina vaginal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003995 MONDO:0003992 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003995 MONDO:0005214 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulva sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003996 MONDO:0005560 True basal ganglia disorder brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003997 MONDO:0003352 True colon Kaposi sarcoma colon sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003997 MONDO:0024659 True colon Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003999 MONDO:0004000 True juvenile pilocytic astrocytoma childhood pilocytic astrocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004000 MONDO:0002505 True childhood pilocytic astrocytoma childhood astrocytic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004000 MONDO:0016691 True childhood pilocytic astrocytoma pilocytic astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004005 MONDO:0003192 True rete ovarii adenoma rete ovarii neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004005 MONDO:0024276 True rete ovarii adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004006 MONDO:0003192 True rete ovarii cystadenofibroma rete ovarii neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004006 MONDO:0003464 True rete ovarii cystadenofibroma cystadenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004007 MONDO:0002488 True breast intraductal proliferative lesion intraductal breast neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004008 MONDO:0004007 True flat ductal epithelial atypia breast intraductal proliferative lesion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004009 MONDO:0002837 True kidney pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004009 MONDO:0005221 True kidney pelvis sarcomatoid transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004010 MONDO:0040678 True infiltrating renal pelvis/ureter urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004012 MONDO:0002578 True adult botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004013 MONDO:0003994 True adult vagina botryoid embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004013 MONDO:0004012 True adult vagina botryoid embryonal rhabdomyosarcoma adult botryoid rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004014 MONDO:0001764 True ethmoid sinus ectopic meningioma ethmoidal sinus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004015 MONDO:0002718 True pineal region teratoma central nervous system teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004015 MONDO:0021232 True pineal region teratoma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004016 MONDO:0003733 True pineal region mature teratoma central nervous system mature teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004016 MONDO:0004015 True pineal region mature teratoma pineal region teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004017 MONDO:0002073 True pineal region immature teratoma malignant pineal area germ cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004017 MONDO:0003735 True pineal region immature teratoma central nervous system immature teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004017 MONDO:0004015 True pineal region immature teratoma pineal region teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004017 MONDO:0024746 True pineal region immature teratoma immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004019 MONDO:0005461 True oxyphilic endometrial endometrioid adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004019 MONDO:0006192 True oxyphilic endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004020 MONDO:0003658 True mediastinal gray zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004020 MONDO:0004021 True mediastinal gray zone lymphoma mediastinal malignant lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004021 MONDO:0005062 True mediastinal malignant lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004021 MONDO:0005843 True mediastinal malignant lymphoma mediastinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004022 MONDO:0003772 True parasagittal meningioma cerebral meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004024 MONDO:0002749 True spinal cord neuroblastoma extracranial neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004024 MONDO:0003544 True spinal cord neuroblastoma spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004026 MONDO:0006603 True skin tag reactive cutaneous fibrous lesion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004028 MONDO:0003361 True small intestinal fibrosarcoma small intestinal sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004030 MONDO:0020654 True ureter transitional cell carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004031 MONDO:0005140 True ovary mixed epithelial carcinoma ovarian carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004032 MONDO:0003811 True ovarian seromucinous carcinoma ovarian seromucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004032 MONDO:0005853 True ovarian seromucinous carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004032 MONDO:0018364 True ovarian seromucinous carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004037 MONDO:0005283 True retinal edema retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004038 MONDO:0002220 True dental enamel hypoplasia tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004039 MONDO:0002665 True papillary extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004040 MONDO:0021109 True urinary bladder inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004040 MONDO:0044906 True urinary bladder inverted papilloma bladder urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004041 MONDO:0003443 True urothelial papilloma papillary urothelial neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004041 MONDO:0003755 True urothelial papilloma urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004041 MONDO:0004180 True urothelial papilloma benign urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004041 MONDO:0005605 True urothelial papilloma transitional cell papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004042 MONDO:0002221 True urethra inverted papilloma urethral urothelial papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004042 MONDO:0021109 True urethra inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004043 MONDO:0004044 True ureter inverted papilloma ureter urothelial papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004043 MONDO:0021109 True ureter inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004044 MONDO:0001398 True ureter urothelial papilloma ureter benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004044 MONDO:0004041 True ureter urothelial papilloma urothelial papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004045 MONDO:0003077 True pediatric intraocular retinoblastoma intraocular retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004045 MONDO:0006517 True pediatric intraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004046 MONDO:0000642 True childhood brain meningioma brain meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004046 MONDO:0003057 True childhood brain meningioma pediatric meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004047 MONDO:0005289 True sphenoidal sinus neoplasm paranasal sinus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004048 MONDO:0003112 True immature gastric teratoma malignant gastric germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004048 MONDO:0003513 True immature gastric teratoma gastric teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004049 MONDO:0003763 True combat disorder acute stress disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004050 MONDO:0002629 True telangiectatic osteogenic sarcoma bone osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004051 MONDO:0003729 True aleukemic monocytic leukemia cutis aleukemic leukemia cutis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004051 MONDO:0007896 True aleukemic monocytic leukemia cutis acute monocytic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004052 MONDO:0018515 True rectal cloacogenic carcinoma squamous cell carcinoma of rectum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004053 MONDO:0002829 True bartholin gland squamous cell carcinoma bartholin gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004053 MONDO:0024609 True bartholin gland squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004054 MONDO:0004055 True acute canaliculitis acute inflammation of lacrimal passage SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004055 MONDO:0001854 True acute inflammation of lacrimal passage lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004056 MONDO:0003442 True bladder papillary urothelial carcinoma bladder papillary urothelial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004056 MONDO:0005611 True bladder papillary urothelial carcinoma bladder transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004056 MONDO:0006350 True bladder papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004057 MONDO:0003890 True micropapillary variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004058 MONDO:0001933 True pancreatic cholera endocrine pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004059 MONDO:0002220 True dentin sensitivity tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004060 MONDO:0017387 True peripheral epithelioid sarcoma epithelioid sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004062 MONDO:0006486 True intermediate cell type uveal melanoma uveal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004063 MONDO:0004062 True intermediate cell type iris melanoma intermediate cell type uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004063 MONDO:0004064 True intermediate cell type iris melanoma iris melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004064 MONDO:0002658 True iris melanoma iris cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004064 MONDO:0006486 True iris melanoma uveal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004065 MONDO:0003878 True intermediate cell type choroid melanoma malignant choroid melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004065 MONDO:0004062 True intermediate cell type choroid melanoma intermediate cell type uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004066 MONDO:0003912 True intermediate cell type ciliary body melanoma malignant ciliary body melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004067 MONDO:0004957 True gallbladder mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004067 MONDO:0006215 True gallbladder mucinous adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004069 MONDO:0019243 True inborn mitochondrial metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004071 MONDO:0002505 True childhood cerebral astrocytoma childhood astrocytic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004071 MONDO:0002731 True childhood cerebral astrocytoma cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004071 MONDO:0021633 True childhood cerebral astrocytoma cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004074 MONDO:0003886 True ovarian mucinous cystadenofibroma mucinous cystadenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004074 MONDO:0003887 True ovarian mucinous cystadenofibroma ovarian mucinous adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004075 MONDO:0005106 True infiltrating lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004076 MONDO:0005106 True tendon sheath lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004077 MONDO:0005106 True lumbosacral lipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004078 MONDO:0003210 True mucinous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004079 MONDO:0003427 True lung mucous gland adenoma bronchus adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004080 MONDO:0002355 True glottis squamous cell carcinoma glottis carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004080 MONDO:0005595 True glottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004081 MONDO:0002665 True extrahepatic bile duct clear cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004081 MONDO:0005004 True extrahepatic bile duct clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004082 MONDO:0003819 True childhood immature teratoma of ovary childhood teratoma of the ovary UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004082 MONDO:0018369 True childhood immature teratoma of ovary immature ovarian teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004082 MONDO:0020577 True childhood immature teratoma of ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004083 MONDO:0002656 True Borst-Jadassohn intraepidermal carcinoma skin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004085 MONDO:0003878 True choroid epithelioid cell melanoma malignant choroid melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004085 MONDO:0006200 True choroid epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004086 MONDO:0003912 True ciliary body epithelioid cell melanoma malignant ciliary body melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004086 MONDO:0006200 True ciliary body epithelioid cell melanoma epithelioid cell uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004087 MONDO:0003050 True basaloid large cell lung carcinoma lung large cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004087 MONDO:0006102 True basaloid large cell lung carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004088 MONDO:0003486 True cervical basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004088 MONDO:0006143 True cervical basaloid carcinoma cervical squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004089 MONDO:0003486 True basaloid carcinoma of the penis basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004089 MONDO:0020656 True basaloid carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004090 MONDO:0003486 True vulvar basaloid squamous cell carcinoma basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004090 MONDO:0024609 True vulvar basaloid squamous cell carcinoma vulvar squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004091 MONDO:0002529 True skin basaloid carcinoma skin squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004091 MONDO:0003486 True skin basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004091 MONDO:0005056 True skin basaloid carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004092 MONDO:0003486 True thymic basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004092 MONDO:0003493 True thymic basaloid carcinoma thymus squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004093 MONDO:0003486 True esophageal basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004093 MONDO:0005580 True esophageal basaloid carcinoma esophageal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004094 MONDO:0002998 True multiple skull base meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004095 MONDO:0005062 True B-cell neoplasm lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004096 MONDO:0002378 True spinal cord dermoid cyst dermoid cyst SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004096 MONDO:0002718 True spinal cord dermoid cyst central nervous system teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004096 MONDO:0021234 True spinal cord dermoid cyst spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004098 MONDO:0002852 True malignant melanocytic peripheral nerve sheath tumor of mediastinum mediastinum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004098 MONDO:0003863 True malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004099 MONDO:0002379 True adult cystic teratoma cystic teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004099 MONDO:0003516 True adult cystic teratoma adult teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004100 MONDO:0005454 True lung mixed small cell and squamous cell carcinoma lung neuroendocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004101 MONDO:0005075 True multicentric papillary thyroid carcinoma thyroid gland papillary carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004102 MONDO:0005075 True columnar cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004103 MONDO:0005075 True tall cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004104 MONDO:0004107 True splenic manifestation of hairy cell leukemia splenic manifestation of leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004104 MONDO:0018935 True splenic manifestation of hairy cell leukemia hairy cell leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004105 MONDO:0006517 True childhood epithelioid sarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004105 MONDO:0017387 True childhood epithelioid sarcoma epithelioid sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004106 MONDO:0003402 True testicular yolk sac tumor, macrocystic pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004107 MONDO:0005059 True splenic manifestation of leukemia leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004107 MONDO:0005966 True splenic manifestation of leukemia spleen cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004108 MONDO:0002720 True diaphragma sellae meningioma sella turcica neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004108 MONDO:0002998 True diaphragma sellae meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004109 MONDO:0004427 True epiglottis neoplasm supraglottis neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004110 MONDO:0004111 True refractory hairy cell leukemia refractory hematologic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004110 MONDO:0018935 True refractory hairy cell leukemia hairy cell leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004111 MONDO:0044881 True refractory hematologic cancer hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004112 MONDO:0006032 True radiation cystitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004114 MONDO:0000402 True urinary bladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004114 MONDO:0004986 True urinary bladder small cell neuroendocrine carcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004116 MONDO:0000402 True esophageal small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004116 MONDO:0019086 True esophageal small cell neuroendocrine carcinoma carcinoma of esophagus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004117 MONDO:0000402 True ampulla of vater small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004117 MONDO:0017590 True ampulla of vater small cell neuroendocrine carcinoma carcinoma of the ampulla of vater SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004118 MONDO:0006032 True cystitis cystica cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004120 MONDO:0000402 True Bartholin gland small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004120 MONDO:0002829 True Bartholin gland small cell carcinoma bartholin gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004120 MONDO:0056816 True Bartholin gland small cell carcinoma vulvar neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004122 MONDO:0000402 True thymus small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004122 MONDO:0020516 True thymus small cell carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004124 MONDO:0002854 True prostate stromal sarcoma prostate sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004124 MONDO:0044337 True prostate stromal sarcoma stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004125 MONDO:0003299 True rectum leiomyoma colorectal leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004125 MONDO:0021462 True rectum leiomyoma benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004126 MONDO:0003240 True thyroiditis thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004127 MONDO:0005061 True lung occult adenocarcinoma lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004128 MONDO:0003050 True lung occult large cell carcinoma lung large cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004129 MONDO:0007108 True cloacogenic carcinoma anal canal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004130 MONDO:0003486 True anus basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004130 MONDO:0006082 True anus basaloid carcinoma anal squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004131 MONDO:0006082 True anal verrucous carcinoma anal squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004132 MONDO:0006082 True anal canal squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004132 MONDO:0007108 True anal canal squamous cell carcinoma anal canal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004133 MONDO:0006373 True pituitary gland mixed eosinophil-basophil adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004134 MONDO:0002531 True benign dermal neurilemmoma skin neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004136 MONDO:0005183 True ovarian endometrioid cystadenoma ovarian cystadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004139 MONDO:0002280 True normocytic anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004140 MONDO:0003514 True intermediate malignant teratoma malignant teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004141 MONDO:0005105 True melanomatosis melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004142 MONDO:0003960 True lung combined large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004142 MONDO:0006167 True lung combined large cell neuroendocrine carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004143 MONDO:0016642 True psammomatous meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004144 MONDO:0016642 True fibrous meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004145 MONDO:0016642 True meningothelial meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004146 MONDO:0016642 True transitional meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004147 MONDO:0006456 True noninvasive malignant thymoma thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004148 MONDO:0002518 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder papillary neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004148 MONDO:0006215 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004149 MONDO:0006215 True gallbladder pleomorphic giant cell adenocarcinoma gallbladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004150 MONDO:0002056 True breast giant fibroadenoma breast fibroadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004151 MONDO:0003544 True spinal meninges cancer spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004152 MONDO:0003864 True chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation chronic lymphocytic leukemia/small lymphocytic lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004153 MONDO:0003750 True childhood central nervous system embryonal carcinoma childhood central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004153 MONDO:0004479 True childhood central nervous system embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004153 MONDO:0018843 True childhood central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004155 MONDO:0003405 True adult central nervous system embryonal carcinoma adult central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004155 MONDO:0018843 True adult central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004156 MONDO:0002867 True pancreatic mucinous cystadenocarcinoma pancreatic cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004158 MONDO:0004156 True pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004159 MONDO:0004156 True pancreatic non-invasive mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004160 MONDO:0006026 True female stress incontinence urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004161 MONDO:0007886 True uterine corpus apoplectic leiomyoma uterine corpus leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004162 MONDO:0003296 True uterine corpus cellular leiomyoma cellular leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004162 MONDO:0007886 True uterine corpus cellular leiomyoma uterine corpus leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004163 MONDO:0003715 True bladder urachal urothelial carcinoma bladder urachal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004163 MONDO:0005611 True bladder urachal urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004164 MONDO:0002493 True lymphoepithelioma-like acinar prostate adenocarcinoma prostatic acinar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004165 MONDO:0003739 True selective IgD deficiency disease selective immunoglobulin deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004166 MONDO:0006206 True hereditary fallopian tube carcinoma fallopian tube carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004168 MONDO:0003669 True cribriform variant testicular seminoma testicular seminoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004169 MONDO:0002263 True premenstrual tension female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004170 MONDO:0001269 True nodular episcleritis scleral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004172 MONDO:0002879 True uterine corpus adenocarcinofibroma uterine body mixed cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004173 MONDO:0001869 True adenocarcinoma of skene gland origin paraurethral gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004174 MONDO:0005461 True secretory uterine corpus endometrioid adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004174 MONDO:0006192 True secretory uterine corpus endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004175 MONDO:0005461 True mucin-rich endometrial endometrioid adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004176 MONDO:0002621 True childhood extraosseous osteosarcoma extraosseous osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004176 MONDO:0002623 True childhood extraosseous osteosarcoma pediatric osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004177 MONDO:0004180 True benign urethral neoplasm benign urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004177 MONDO:0021239 True benign urethral neoplasm urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004178 MONDO:0003402 True testicular yolk sac tumor, endodermal sinus pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004180 MONDO:0005165 True benign urinary system neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004180 MONDO:0021066 True benign urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004181 MONDO:0003725 True breast adenomyoepithelial adenosis breast adenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004182 MONDO:0004986 True stage IVb bladder cancer urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004183 MONDO:0005244 True axonal neuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004184 MONDO:0002118 True urethral disorder urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004185 MONDO:0003464 True ovarian serous cystadenofibroma cystadenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004185 MONDO:0006340 True ovarian serous cystadenofibroma ovarian serous adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004186 MONDO:0004187 True cranial nodular fasciitis nodular fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004187 MONDO:0004830 True nodular fasciitis fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004187 MONDO:0006209 True nodular fasciitis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004187 MONDO:0006424 True nodular fasciitis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004187 MONDO:0019296 True nodular fasciitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004188 MONDO:0003744 True iris spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004188 MONDO:0004064 True iris spindle cell melanoma iris melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004189 MONDO:0003749 True esophageal tuberculosis esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004189 MONDO:0005768 True esophageal tuberculosis gastrointestinal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004190 MONDO:0000384 True nephrogenic adenoma of urinary bladder bladder benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004191 MONDO:0002513 True nephrogenic adenoma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004192 MONDO:0006295 True urethra cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0004192 MONDO:0021239 True urethra cancer urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004193 MONDO:0003481 True pediatric ovarian dysgerminoma dysgerminoma of ovary UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004193 MONDO:0003760 True pediatric ovarian dysgerminoma pediatric ovarian germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004193 MONDO:0004479 True pediatric ovarian dysgerminoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004193 MONDO:0020577 True pediatric ovarian dysgerminoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004194 MONDO:0005558 True ovarian stromal hyperthecosis ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004195 MONDO:0003393 True thymic dysplasia thymus gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004196 MONDO:0006406 True rectal sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004196 MONDO:0044937 True rectal sarcomatoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004197 MONDO:0004192 True male urethral cancer urethra cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004198 MONDO:0003402 True testicular yolk sac tumor, solid pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004199 MONDO:0005056 True vulvar keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004199 MONDO:0024609 True vulvar keratinizing squamous cell carcinoma vulvar squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004200 MONDO:0004986 True superficial urinary bladder carcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004201 MONDO:0003381 True pituitary hypoplasia pituitary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004202 MONDO:0003606 True adrenal medulla carcinoma adrenal medulla cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004203 MONDO:0004192 True female urethral cancer urethra cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004204 MONDO:0002536 True squamous cell skin papilloma skin papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004205 MONDO:0006407 True lymphohistiocytoid mesothelioma sarcomatoid mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004206 MONDO:0004634 True pulmonary vein leiomyosarcoma vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004206 MONDO:0005058 True pulmonary vein leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004207 MONDO:0000473 True pulmonary artery leiomyosarcoma arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004207 MONDO:0005058 True pulmonary artery leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004208 MONDO:0005058 True superior vena cava leiomyosarcoma leiomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004209 MONDO:0002731 True cerebral primitive neuroectodermal tumor cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004209 MONDO:0003145 True cerebral primitive neuroectodermal tumor supratentorial primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004210 MONDO:0004211 True colonic L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004210 MONDO:0015067 True colonic L-cell glucagon-like peptide producing tumor neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004211 MONDO:0000386 True L-cell glucagon-like peptide-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004212 MONDO:0024609 True vulvar keratoacanthoma-like carcinoma vulvar squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004213 MONDO:0024609 True vulvar non-keratinizing squamous cell carcinoma vulvar squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004214 MONDO:0003463 True ovarian endometrioid cystadenofibroma ovarian endometrioid adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004214 MONDO:0003464 True ovarian endometrioid cystadenofibroma cystadenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004215 MONDO:0005119 True cutaneous anthrax anthrax infection SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004216 MONDO:0002073 True pineal region germinoma malignant pineal area germ cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004216 MONDO:0002214 True pineal region germinoma brain germinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004217 MONDO:0002214 True childhood brain germinoma brain germinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004217 MONDO:0004452 True childhood brain germinoma childhood central nervous system germinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004218 MONDO:0003750 True childhood germ cell brain tumor childhood central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004219 MONDO:0003402 True polyvesicular vitelline pattern testicular yolk sac tumor testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004220 MONDO:0005461 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004220 MONDO:0006192 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004221 MONDO:0006359 True uterine corpus perivascular epithelioid cell tumor neoplasm with perivascular epithelioid cell differentiation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004222 MONDO:0002702 True ovarian clear cell cystadenocarcinoma ovarian cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004222 MONDO:0006045 True ovarian clear cell cystadenocarcinoma ovarian clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004223 MONDO:0005079 True polyp of middle ear polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004223 MONDO:0021366 True polyp of middle ear neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004224 MONDO:0003335 True chronic metabolic polyneuropathy chronic polyneuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004227 MONDO:0004230 True epididymal adenomatoid tumor adenomatoid tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004227 MONDO:0021473 True epididymal adenomatoid tumor benign neoplasm of epididymis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004229 MONDO:0006056 True acantholytic variant squamous cell breast carcinoma squamous cell breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004231 MONDO:0006056 True spindle cell variant squamous cell breast carcinoma squamous cell breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004231 MONDO:0021663 True spindle cell variant squamous cell breast carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004232 MONDO:0005056 True large cell keratinizing variant squamous cell breast carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004232 MONDO:0006056 True large cell keratinizing variant squamous cell breast carcinoma squamous cell breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004233 MONDO:0006517 True childhood pleomorphic rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004233 MONDO:0017386 True childhood pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004234 MONDO:0005169 True chronic lymphoproliferative disorder of NK-cells neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004235 MONDO:0005020 True diverticulitis intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004236 MONDO:0015063 True duodenal somatostatinoma duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004237 MONDO:0003050 True large cell carcinoma with rhabdoid phenotype lung large cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004238 MONDO:0016642 True petrous apex meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004239 MONDO:0005056 True cervical keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004239 MONDO:0006143 True cervical keratinizing squamous cell carcinoma cervical squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004240 MONDO:0004192 True posterior urethra cancer urethra cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004241 MONDO:0002614 True Osgood-Schlatter disease bone inflammation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004241 MONDO:0018381 True Osgood-Schlatter disease osteochondrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004242 MONDO:0004247 True active peptic ulcer disease peptic ulcer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004243 MONDO:0004244 True vulvar proximal-type epithelioid sarcoma proximal-type epithelioid sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004243 MONDO:0005214 True vulvar proximal-type epithelioid sarcoma vulva sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004244 MONDO:0017387 True proximal-type epithelioid sarcoma epithelioid sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004245 MONDO:0005499 True ependymal tumor of brain brain glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004247 MONDO:0004335 True peptic ulcer disease digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004248 MONDO:0002915 True pediatric infratentorial ependymoma childhood infratentorial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004249 MONDO:0003478 True pediatric supratentorial ependymoma childhood ependymoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004250 MONDO:0002533 True extrahepatic bile duct papillary adenoma papillary adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004250 MONDO:0003445 True extrahepatic bile duct papillary adenoma extrahepatic bile duct adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004251 MONDO:0021118 True small intestine neoplasm intestinal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004252 MONDO:0002995 True small intestinal L-cell glucagon-like peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004252 MONDO:0004211 True small intestinal L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004253 MONDO:0021099 True intraductal breast papillomatosis intraductal papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004255 MONDO:0005626 True Wolffian adnexal tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004256 MONDO:0001279 True lumbar spinal canal and spinal cord meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004257 MONDO:0003750 True childhood central nervous system mixed germ cell tumor childhood central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004257 MONDO:0004479 True childhood central nervous system mixed germ cell tumor malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004257 MONDO:0016742 True childhood central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004258 MONDO:0040674 True female orgasmic disorder orgasm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004259 MONDO:0005131 True endocervical carcinoma cervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004260 MONDO:0004247 True peptic ulcer perforation peptic ulcer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004261 MONDO:0004262 True periductal breast myoepitheliosis breast myoepitheliosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004262 MONDO:0002483 True breast myoepitheliosis breast myoepithelial tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004263 MONDO:0002915 True pediatric infratentorial ependymoblastoma childhood infratentorial neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004263 MONDO:0003107 True pediatric infratentorial ependymoblastoma infratentorial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004263 MONDO:0016715 True pediatric infratentorial ependymoblastoma ependymoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004264 MONDO:0004265 True acute gonococcal endometritis acute endometritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004265 MONDO:0000918 True acute endometritis endometritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004266 MONDO:0002652 True anal gland adenocarcinoma anus adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004267 MONDO:0021098 True squamous papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004269 MONDO:0003208 True breast cystic hypersecretory carcinoma breast secretory carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004270 MONDO:0002058 True breast ductal adenoma breast adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004271 MONDO:0002058 True pregnancy adenoma breast adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004272 MONDO:0006002 True urinary bladder tuberculosis urogenital tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004272 MONDO:0006026 True urinary bladder tuberculosis urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004273 MONDO:0002058 True breast apocrine adenoma breast adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004274 MONDO:0006043 True mixed epithelial/mesenchymal metaplastic breast carcinoma metaplastic breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004275 MONDO:0002629 True osteosarcoma arising in bone Paget disease bone osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004276 MONDO:0002804 True ceruminoma apocrine adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004277 MONDO:0000314 True gonorrhea primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004278 MONDO:0002837 True infiltrating bladder urothelial carcinoma sarcomatoid variant sarcomatoid transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004278 MONDO:0003890 True infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004279 MONDO:0002639 True glossopharyngeal motor neuropathy glossopharyngeal nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004280 MONDO:0004004 True asymmetric motor neuropathy motor nerve neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004281 MONDO:0003861 True vulvar eccrine porocarcinoma vulvar eccrine adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004281 MONDO:0006189 True vulvar eccrine porocarcinoma eccrine porocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004283 MONDO:0006245 True vulvar clear cell hidradenocarcinoma hidradenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004283 MONDO:0024336 True vulvar clear cell hidradenocarcinoma vulvar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004285 MONDO:0005192 True pancreatic intraductal papillary-mucinous carcinoma exocrine pancreatic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004286 MONDO:0002116 True pancreatic intraductal papillary-mucinous neoplasm malignant exocrine pancreas neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004287 MONDO:0005184 True pancreatic foamy gland adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004288 MONDO:0004953 True scirrhous breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004289 MONDO:0002766 True glottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004289 MONDO:0004080 True glottis verrucous carcinoma glottis squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004290 MONDO:0002766 True subglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004290 MONDO:0004291 True subglottis verrucous carcinoma subglottis squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004291 MONDO:0004358 True subglottis squamous cell carcinoma subglottis carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004291 MONDO:0005595 True subglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004292 MONDO:0002766 True supraglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004292 MONDO:0004293 True supraglottis verrucous carcinoma supraglottis squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004293 MONDO:0004357 True supraglottis squamous cell carcinoma carcinoma of supraglottis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004293 MONDO:0005595 True supraglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004294 MONDO:0003507 True gestational ovarian choriocarcinoma choriocarcinoma of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004294 MONDO:0020550 True gestational ovarian choriocarcinoma gestational choriocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004295 MONDO:0005138 True asbestos-related lung carcinoma lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004296 MONDO:0003572 True cervical lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004296 MONDO:0006143 True cervical lymphoepithelioma-like carcinoma cervical squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004297 MONDO:0003572 True lymphoepithelioma-like thymic carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004297 MONDO:0006451 True lymphoepithelioma-like thymic carcinoma thymic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004298 MONDO:0004335 True stomach disorder digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004299 MONDO:0003572 True infiltrating bladder lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004299 MONDO:0003890 True infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004301 MONDO:0002631 True fibrosarcomatous osteosarcoma conventional osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004302 MONDO:0006890 True chief cell adenoma parathyroid gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004303 MONDO:0003426 True parathyroid gland clear cell adenoma clear cell adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004303 MONDO:0006890 True parathyroid gland clear cell adenoma parathyroid gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004304 MONDO:0003421 True mixed cell type adenoma of parathyroid mixed cell adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004304 MONDO:0006890 True mixed cell type adenoma of parathyroid parathyroid gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004305 MONDO:0003424 True parathyroid oncocytic adenoma oncocytic adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004305 MONDO:0006890 True parathyroid oncocytic adenoma parathyroid gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004306 MONDO:0002623 True childhood intracortical osteosarcoma pediatric osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004306 MONDO:0002631 True childhood intracortical osteosarcoma conventional osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004307 MONDO:0004308 True sarcomatosis of the meninges meningeal sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004307 MONDO:0004309 True sarcomatosis of the meninges sarcomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004308 MONDO:0002217 True meningeal sarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004308 MONDO:0021322 True meningeal sarcoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004309 MONDO:0005089 True sarcomatosis sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004310 MONDO:0016715 True adult embryonal tumor with multilayered rosettes, c19mc-altered ependymoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004311 MONDO:0005836 True carcinoma of Cowper glands male reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004312 MONDO:0002998 True suprasellar meningioma skull base meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004313 MONDO:0016642 True gasserian ganglion meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004314 MONDO:0002291 True malignant cutaneous granular cell skin tumor cutaneous granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004314 MONDO:0003252 True malignant cutaneous granular cell skin tumor granular cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004314 MONDO:0003363 True malignant cutaneous granular cell skin tumor malignant dermis tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004315 MONDO:0003210 True cholangiolocellular carcinoma intrahepatic cholangiocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004316 MONDO:0002529 True acantholytic squamous cell skin carcinoma skin squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004316 MONDO:0005056 True acantholytic squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004317 MONDO:0001279 True multiple spinal canal and spinal cord meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004318 MONDO:0003795 True pulmonary type ovarian small cell carcinoma ovarian small cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004319 MONDO:0003795 True hypercalcemic type ovarian small cell carcinoma ovarian small cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004320 MONDO:0002503 True adult infiltrating astrocytic neoplasm adult astrocytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004321 MONDO:0005461 True endometrial mixed adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004322 MONDO:0003408 True non-gestational ovarian choriocarcinoma ovarian primitive germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004322 MONDO:0003507 True non-gestational ovarian choriocarcinoma choriocarcinoma of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004323 MONDO:0005336 True muscular atrophy myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004324 MONDO:0003125 True testicular fibroma testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004324 MONDO:0005167 True testicular fibroma fibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004325 MONDO:0003125 True testicular thecoma testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004325 MONDO:0037252 True testicular thecoma thecoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004326 MONDO:0002537 True sphenoid sinus inverted papilloma inverted papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004326 MONDO:0004327 True sphenoid sinus inverted papilloma sphenoid sinus Schneiderian papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004327 MONDO:0006353 True sphenoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004327 MONDO:0021477 True sphenoid sinus Schneiderian papilloma benign neoplasm of sphenoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004328 MONDO:0001748 True maxillary sinus adenocarcinoma maxillary sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004328 MONDO:0004970 True maxillary sinus adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004329 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004329 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004330 MONDO:0003762 True leptomeningeal sarcoma malignant leptomeningeal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004330 MONDO:0004308 True leptomeningeal sarcoma meningeal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004331 MONDO:0001378 True bladder urachal adenocarcinoma urachus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004331 MONDO:0002751 True bladder urachal adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004331 MONDO:0003715 True bladder urachal adenocarcinoma bladder urachal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004332 MONDO:0003639 True lung hilum cancer lung hilum neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004332 MONDO:0008903 True lung hilum cancer lung cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004334 MONDO:0019954 True non-functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004334 MONDO:0021119 True non-functional pancreatic neuroendocrine tumor non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004336 MONDO:0002169 True rectal signet ring cell adenocarcinoma rectum adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004336 MONDO:0044336 True rectal signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004337 MONDO:0002651 True perianal skin Paget disease anal Paget disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004337 MONDO:0002941 True perianal skin Paget disease anal margin carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004338 MONDO:0003072 True retinal cell cancer retinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004339 MONDO:0002720 True tuberculum sellae meningioma sella turcica neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004340 MONDO:0005184 True mixed ductal-endocrine carcinoma of pancreas pancreatic ductal adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004341 MONDO:0004957 True colloid carcinoma of the pancreas mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004341 MONDO:0005184 True colloid carcinoma of the pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004343 MONDO:0002867 True pancreatic acinar cell cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004343 MONDO:0006346 True pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004344 MONDO:0009330 True childhood malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004345 MONDO:0006517 True childhood malignant schwannoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004345 MONDO:0017827 True childhood malignant schwannoma malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004346 MONDO:0003210 True signet ring cell intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004348 MONDO:0002311 True retinal telangiectasia retinal vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004349 MONDO:0003072 True retina lymphoma retinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004349 MONDO:0004034 True retina lymphoma eye lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004350 MONDO:0003078 True pediatric extraocular retinoblastoma extraocular retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004350 MONDO:0006517 True pediatric extraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004351 MONDO:0004034 True intraocular lymphoma eye lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004351 MONDO:0017207 True intraocular lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004352 MONDO:0004245 True adult brain ependymoma ependymal tumor of brain SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004353 MONDO:0003455 True extrahepatic biliary papillomatosis bile duct papillary neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004354 MONDO:0004355 True neonatal leukemia childhood leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004355 MONDO:0005059 True childhood leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004355 MONDO:0006517 True childhood leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004356 MONDO:0002730 True childhood multilocular cystic kidney neoplasm childhood kidney neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004357 MONDO:0001724 True carcinoma of supraglottis supraglottis cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004357 MONDO:0002358 True carcinoma of supraglottis laryngeal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004358 MONDO:0001293 True subglottis carcinoma subglottis cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004358 MONDO:0002358 True subglottis carcinoma laryngeal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004359 MONDO:0005485 True delusional disorder psychotic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004360 MONDO:0002490 True breast extraskeletal osteosarcoma breast sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004360 MONDO:0002621 True breast extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004361 MONDO:0003473 True adult spinal cord ependymoma spinal cord ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004363 MONDO:0002542 True adult spinal cord glioblastoma spinal cord glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004363 MONDO:0020690 True adult spinal cord glioblastoma adult glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004364 MONDO:0003878 True choroid necrotic melanoma malignant choroid melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004364 MONDO:0004365 True choroid necrotic melanoma necrotic uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004365 MONDO:0006486 True necrotic uveal melanoma uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004366 MONDO:0003268 True mixed astrocytoma-ependymoma-oligodendroglioma mixed glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004367 MONDO:0002998 True petroclival meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004368 MONDO:0002998 True sphenoorbital meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004369 MONDO:0005240 True renal infectious disease kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004370 MONDO:0002998 True sphenocavernous meningioma skull base meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004371 MONDO:0002918 True spinal multifocal clear cell meningioma clear cell meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004372 MONDO:0003335 True chronic toxic polyneuropathy chronic polyneuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004373 MONDO:0003262 True adult papillary meningioma rhabdoid meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004373 MONDO:0021088 True adult papillary meningioma papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004374 MONDO:0002129 True adult extraskeletal osteosarcoma bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004374 MONDO:0002621 True adult extraskeletal osteosarcoma extraosseous osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004375 MONDO:0005300 True end stage renal failure chronic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004376 MONDO:0002482 True infiltrating nipple syringomatous adenoma nipple neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004377 MONDO:0002994 True pancreatic non-functioning delta cell tumor pancreatic delta cell neuroendocrine tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004377 MONDO:0004334 True pancreatic non-functioning delta cell tumor non-functional pancreatic neuroendocrine tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004378 MONDO:0002731 True pediatric cerebral ependymoblastoma cerebral hemisphere cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004378 MONDO:0016715 True pediatric cerebral ependymoblastoma ependymoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004379 MONDO:0004989 True female breast carcinoma breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004380 MONDO:0005089 True dendritic cell sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004380 MONDO:0006247 True dendritic cell sarcoma histiocytic and dendritic cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004381 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004382 MONDO:0004867 True laryngeal disorder upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004383 MONDO:0002999 True adult central nervous system germinoma central nervous system germinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004383 MONDO:0003405 True adult central nervous system germinoma adult central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004384 MONDO:0002537 True maxillary sinus inverted papilloma inverted papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004384 MONDO:0004457 True maxillary sinus inverted papilloma maxillary sinus Schneiderian papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004386 MONDO:0003236 True uterine corpus atypical polypoid adenomyoma atypical polypoid adenomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004386 MONDO:0003237 True uterine corpus atypical polypoid adenomyoma adenomyoma of uterine corpus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004387 MONDO:0005558 True luteoma of pregnancy ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004389 MONDO:0002875 True mite infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004390 MONDO:0005328 True ocular hypotension eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004392 MONDO:0002217 True intracranial extraskeletal myxoid chondrosarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004392 MONDO:0012825 True intracranial extraskeletal myxoid chondrosarcoma extraskeletal myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004393 MONDO:0003268 True mixed astrocytoma-ependymoma mixed glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004394 MONDO:0001748 True maxillary sinus squamous cell carcinoma maxillary sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004394 MONDO:0044705 True maxillary sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004396 MONDO:0001279 True cervical spinal canal and spinal cord meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004397 MONDO:0004398 True benign mediastinal psammomatous neurilemmoma mediastinal schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004398 MONDO:0003098 True mediastinal schwannoma mediastinal neural neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004398 MONDO:0004820 True mediastinal schwannoma peripheral nerve schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004398 MONDO:0021521 True mediastinal schwannoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004400 MONDO:0002588 True malignant type A thymoma thymoma type A SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004401 MONDO:0003510 True testis refractory cancer malignant testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004401 MONDO:0036501 True testis refractory cancer refractory malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004402 MONDO:0003402 True testicular yolk sac tumor, glandular-alveolar pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004403 MONDO:0003537 True childhood precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004403 MONDO:0006517 True childhood precursor T-lymphoblastic lymphoma/leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004404 MONDO:0003537 True refractory precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004404 MONDO:0004111 True refractory precursor T-lymphoblastic lymphoma/leukemia refractory hematologic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004405 MONDO:0005028 True Barrett adenocarcinoma esophageal adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004406 MONDO:0003405 True adult central nervous system mixed germ cell tumor adult central nervous system germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004406 MONDO:0016742 True adult central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004407 MONDO:0003325 True stroma-dominant and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004408 MONDO:0003325 True schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004409 MONDO:0003950 True nipple duct carcinoma nipple carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004410 MONDO:0018352 True sarcomatoid penile squamous cell carcinoma squamous cell carcinoma of penis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004410 MONDO:0021663 True sarcomatoid penile squamous cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004411 MONDO:0003523 True duodenal gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004411 MONDO:0015063 True duodenal gastrin-producing neuroendocrine tumor duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004412 MONDO:0024882 True malignant spiradenoma secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004413 MONDO:0006143 True cervical non-keratinizing squamous cell carcinoma cervical squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004414 MONDO:0000931 True tamoxifen-related endometrial lesion endometrial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004415 MONDO:0003890 True lipid-cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004416 MONDO:0003890 True plasmacytoid variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004417 MONDO:0003890 True nested variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004418 MONDO:0003890 True microcystic variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004419 MONDO:0003890 True lymphoma-like variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004420 MONDO:0004412 True breast malignant eccrine spiradenoma malignant spiradenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004421 MONDO:0021097 True sclerosing breast papilloma intraductal breast papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004422 MONDO:0002997 True cerebral falx meningioma anterior cranial fossa meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004423 MONDO:0002217 True central nervous system extraskeletal osteosarcoma central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004423 MONDO:0002621 True central nervous system extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004423 MONDO:0037740 True central nervous system extraskeletal osteosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004425 MONDO:0003240 True hyperthyroidism thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004426 MONDO:0003774 True frontal convexity meningioma cerebral convexity meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004427 MONDO:0021071 True supraglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004428 MONDO:0003422 True alveoli adenoma lung adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004429 MONDO:0002898 True skin meningioma skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004429 MONDO:0016642 True skin meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004430 MONDO:0018352 True penis mixed squamous cell carcinoma squamous cell carcinoma of penis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004431 MONDO:0006816 True hemarthrosis arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004432 MONDO:0003517 True mature pericardial teratoma mature teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004432 MONDO:0021381 True mature pericardial teratoma neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004433 MONDO:0002979 True papillary carcinoma of the penis papillary squamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004433 MONDO:0018352 True papillary carcinoma of the penis squamous cell carcinoma of penis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004435 MONDO:0002397 True liver fibrosarcoma liver sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004435 MONDO:0005164 True liver fibrosarcoma fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004436 MONDO:0003589 True ovarian myxoid liposarcoma liposarcoma of the ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004436 MONDO:0013280 True ovarian myxoid liposarcoma myxoid liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004438 MONDO:0004989 True sporadic breast cancer breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004439 MONDO:0016642 True periocular meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004440 MONDO:0021232 True pineal region meningioma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004441 MONDO:0003581 True childhood ovarian embryonal carcinoma ovarian embryonal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004441 MONDO:0003760 True childhood ovarian embryonal carcinoma pediatric ovarian germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004441 MONDO:0004479 True childhood ovarian embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004441 MONDO:0020577 True childhood ovarian embryonal carcinoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004442 MONDO:0003510 True testis polyembryoma malignant testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004442 MONDO:0015863 True testis polyembryoma polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004443 MONDO:0006351 True chest wall parachordoma parachordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004443 MONDO:0021388 True chest wall parachordoma neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004444 MONDO:0003386 True bladder tubulo-cystic clear cell adenocarcinoma bladder clear cell adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004445 MONDO:0003386 True bladder papillary clear cell adenocarcinoma bladder clear cell adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004446 MONDO:0002997 True olfactory groove meningioma anterior cranial fossa meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004447 MONDO:0002998 True pituitary stalk meningioma skull base meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004448 MONDO:0002537 True frontal sinus inverted papilloma inverted papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004448 MONDO:0003752 True frontal sinus inverted papilloma frontal sinus Schneiderian papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004449 MONDO:0004262 True intraductal breast myoepitheliosis breast myoepitheliosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004450 MONDO:0003718 True carotid artery occlusion occlusion precerebral artery SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004450 MONDO:0005269 True carotid artery occlusion carotid artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004451 MONDO:0003210 True sarcomatous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004452 MONDO:0002999 True childhood central nervous system germinoma central nervous system germinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004452 MONDO:0003750 True childhood central nervous system germinoma childhood central nervous system germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004452 MONDO:0004479 True childhood central nervous system germinoma malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004453 MONDO:0003402 True testicular yolk sac tumor, myxomatous pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004454 MONDO:0017043 True cellular congenital mesoblastic nephroma congenital mesoblastic nephroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004455 MONDO:0017043 True classic congenital mesoblastic nephroma congenital mesoblastic nephroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004456 MONDO:0002491 True cocaine abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004457 MONDO:0006353 True maxillary sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004457 MONDO:0021484 True maxillary sinus Schneiderian papilloma benign neoplasm of maxillary sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004458 MONDO:0002751 True bladder mixed adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004459 MONDO:0002751 True bladder hepatoid adenocarcinoma bladder adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004459 MONDO:0006243 True bladder hepatoid adenocarcinoma hepatoid adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004460 MONDO:0005032 True thyroid gland fetal adenoma follicular thyroid adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004461 MONDO:0003434 True vaginal tubulovillous adenoma vaginal adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004462 MONDO:0003420 True extrahepatic bile duct cystadenoma bile duct cystadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004463 MONDO:0009692 True cellular phase chronic idiopathic myelofibrosis primary myelofibrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004464 MONDO:0004177 True nephrogenic adenoma of the urethra benign urethral neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004464 MONDO:0004191 True nephrogenic adenoma of the urethra nephrogenic adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004465 MONDO:0002670 True periampullary adenocarcinoma ampulla of vater adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004466 MONDO:0005071 True neuronitis nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004467 MONDO:0003513 True mature gastric teratoma gastric teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004467 MONDO:0003517 True mature gastric teratoma mature teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004468 MONDO:0002651 True anal canal Paget disease anal Paget disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004468 MONDO:0002735 True anal canal Paget disease anal canal adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004469 MONDO:0002529 True pseudovascular skin squamous cell carcinoma skin squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004469 MONDO:0005056 True pseudovascular skin squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004472 MONDO:0002707 True breast columnar cell mucinous carcinoma breast mucinous carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004473 MONDO:0004109 True epiglottis cancer epiglottis neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004473 MONDO:0004357 True epiglottis cancer carcinoma of supraglottis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004474 MONDO:0004699 True gallbladder lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004474 MONDO:0005411 True gallbladder lymphoma gallbladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004475 MONDO:0006451 True thymus clear cell carcinoma thymic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004477 MONDO:0003327 True adrenal gland ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004477 MONDO:0021089 True adrenal gland ganglioneuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004478 MONDO:0003864 True pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004479 MONDO:0003751 True malignant childhood germ cell neoplasm childhood germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004479 MONDO:0006290 True malignant childhood germ cell neoplasm malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004479 MONDO:0006517 True malignant childhood germ cell neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004481 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004481 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004481 MONDO:0006047 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004482 MONDO:0044335 True fibroosseous pseudotumor of the digits benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004483 MONDO:0003424 True thyroid gland oncocytic adenoma oncocytic adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004483 MONDO:0005032 True thyroid gland oncocytic adenoma follicular thyroid adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004484 MONDO:0005411 True gallbladder melanoma gallbladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004484 MONDO:0045070 True gallbladder melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004485 MONDO:0004496 True interstitial myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004486 MONDO:0003238 True endocervical type cervical adenomyoma cervical adenomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004487 MONDO:0003238 True endometrial type cervical adenomyoma cervical adenomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004488 MONDO:0003238 True cervical atypical polypoid adenomyoma cervical adenomyoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004489 MONDO:0006206 True fallopian tube gestational choriocarcinoma fallopian tube carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004489 MONDO:0020550 True fallopian tube gestational choriocarcinoma gestational choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004490 MONDO:0004491 True gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004490 MONDO:0020550 True gestational uterine corpus choriocarcinoma gestational choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004491 MONDO:0005207 True uterine corpus choriocarcinoma choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004493 MONDO:0003402 True testicular yolk sac tumor, papillary pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004494 MONDO:0003402 True testicular yolk sac tumor, hepatoid pattern testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004495 MONDO:0005129 True myotonic cataract cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004497 MONDO:0005976 True tertiary syphilis syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004498 MONDO:0001279 True sacral spinal canal and spinal cord meningioma intraspinal meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004499 MONDO:0004332 True lung hilum carcinoma lung hilum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004499 MONDO:0005138 True lung hilum carcinoma lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004500 MONDO:0006883 True lung superior sulcus carcinoma malignant superior sulcus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004501 MONDO:0003461 True fallopian tube cystadenofibroma fallopian tube serous adenofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004501 MONDO:0003464 True fallopian tube cystadenofibroma cystadenofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004502 MONDO:0016642 True parapharyngeal meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004503 MONDO:0003908 True upper clivus meningioma clivus meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004504 MONDO:0004197 True penile urethral cancer male urethral cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004505 MONDO:0021097 True central breast papilloma intraductal breast papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004506 MONDO:0021097 True microscopic breast papilloma intraductal breast papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004507 MONDO:0021097 True atypical breast papilloma intraductal breast papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004508 MONDO:0005076 True periapical periodontitis periodontitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004509 MONDO:0003455 True intrahepatic biliary papillomatosis bile duct papillary neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004510 MONDO:0006097 True inflammatory liposarcoma atypical lipomatous tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004511 MONDO:0003908 True lower clivus meningioma clivus meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004512 MONDO:0004141 True meningeal melanomatosis melanomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004512 MONDO:0016747 True meningeal melanomatosis primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004512 MONDO:0021322 True meningeal melanomatosis malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004513 MONDO:0017386 True adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004514 MONDO:0003014 True chronic rhinitis rhinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004516 MONDO:0004197 True bulbomembranous urethral cancer male urethral cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004517 MONDO:0001926 True ureter tuberculosis ureteral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004517 MONDO:0006002 True ureter tuberculosis urogenital tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004518 MONDO:0004192 True anterior urethra cancer urethra cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004519 MONDO:0006500 True synovial angioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004519 MONDO:0024715 True synovial angioma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004520 MONDO:0006446 True intratubular embryonal carcinoma testicular embryonal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004521 MONDO:0017387 True adult epithelioid sarcoma epithelioid sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004522 MONDO:0004335 True peritonitis digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004523 MONDO:0002529 True clear cell squamous cell skin carcinoma skin squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004523 MONDO:0005056 True clear cell squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004524 MONDO:0005032 True thyroid gland atypical follicular adenoma follicular thyroid adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004525 MONDO:0004389 True scabies mite infestation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004526 MONDO:0006424 True mixed endometrial stromal and smooth muscle tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004526 MONDO:0021254 True mixed endometrial stromal and smooth muscle tumor corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004528 MONDO:0040675 True lymph node palisaded myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004529 MONDO:0037745 True non-ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004530 MONDO:0005153 True early invasive cervical adenocarcinoma cervical adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004531 MONDO:0002585 True sclerosing adenosis of breast breast fibrocystic change, proliferative type SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004532 MONDO:0000649 True auditory system cancer sensory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004532 MONDO:0002409 True auditory system cancer auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004533 MONDO:0003096 True perineural angioma deep hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004534 MONDO:0003725 True microglandular adenosis of breast breast adenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004535 MONDO:0003760 True childhood choriocarcinoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004535 MONDO:0004322 True childhood choriocarcinoma of the ovary non-gestational ovarian choriocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004535 MONDO:0004479 True childhood choriocarcinoma of the ovary malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004535 MONDO:0020577 True childhood choriocarcinoma of the ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004537 MONDO:0002742 True intestinal variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004537 MONDO:0006254 True intestinal variant cervical mucinous adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004538 MONDO:0002742 True endocervical type cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004539 MONDO:0005561 True aortic malignant tumor aortic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004539 MONDO:0040676 True aortic malignant tumor great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004540 MONDO:0017827 True epithelioid malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004541 MONDO:0003669 True pseudoglandular variant testicular seminoma testicular seminoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004542 MONDO:0006134 True cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004543 MONDO:0003402 True enteric pattern testicular yolk sac tumor testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004544 MONDO:0045056 True chordoid meningioma grade II meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004545 MONDO:0017827 True adult malignant schwannoma malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004546 MONDO:0003100 True lumbar plexus neoplasm nerve plexus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004547 MONDO:0003402 True reticular pattern testicular yolk sac tumor testicular yolk sac tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004548 MONDO:0003395 True adult type testicular granulosa cell tumor testicular granulosa cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004549 MONDO:0017853 True cork-handlers' disease hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004550 MONDO:0003802 True malignant cornea melanoma cornea cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004550 MONDO:0006325 True malignant cornea melanoma ocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004552 MONDO:0006143 True microinvasive cervical squamous cell carcinoma cervical squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004554 MONDO:0002730 True childhood kidney angiomyolipoma childhood kidney neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004554 MONDO:0004555 True childhood kidney angiomyolipoma kidney angiomyolipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004555 MONDO:0002513 True kidney angiomyolipoma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004555 MONDO:0002603 True kidney angiomyolipoma angiomyolipoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004556 MONDO:0003212 True carcinoma arising in nasal papillomatosis nasal cavity carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004557 MONDO:0002678 True congenital fibrosarcoma pediatric fibrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004558 MONDO:0005032 True thyroid gland macrofollicular adenoma follicular thyroid adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004559 MONDO:0017827 True malignant glandular tumor of peripheral nerve sheath malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004560 MONDO:0003413 True follicular infundibulum tumor hair follicle neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004561 MONDO:0003072 True retinal melanoma retinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004561 MONDO:0006325 True retinal melanoma ocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004562 MONDO:0004658 True breast apocrine carcinoma in situ breast carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004563 MONDO:0005571 True physiological polycythemia polycythemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004564 MONDO:0003240 True thyroid malformation thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004565 MONDO:0005020 True intestinal obstruction intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004566 MONDO:0001318 True postgastrectomy syndrome functional gastric disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004566 MONDO:0005020 True postgastrectomy syndrome intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004567 MONDO:0004565 True ileus intestinal obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004569 MONDO:0006683 True brachial plexus neuropathy from injury brachial plexus neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004570 MONDO:0004565 True intestinal volvulus intestinal obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004571 MONDO:0004565 True intestinal impaction intestinal obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003473 MONDO:0016698 True spinal cord ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003474 MONDO:0016698 True tanycytic ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003475 MONDO:0016698 True papillary ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003476 MONDO:0016698 True clear cell ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003477 MONDO:0002911 True brain stem ependymoma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003477 MONDO:0016698 True brain stem ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003478 MONDO:0016698 True childhood ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003478 MONDO:0021079 True childhood ependymoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003480 MONDO:0002073 True pineal region dysgerminoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003481 MONDO:0003002 True dysgerminoma of ovary dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003481 MONDO:0003408 True dysgerminoma of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003482 MONDO:0003472 True Pediculus humanus corporis infestation lice infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003486 MONDO:0005096 True basaloid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003486 MONDO:0006102 True basaloid squamous cell carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003487 MONDO:0005096 True pseudoglandular squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003490 MONDO:0017590 True ampulla of vater squamous cell carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003492 MONDO:0002463 True lacrimal gland squamous cell carcinoma lacrimal gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003493 MONDO:0005096 True thymus squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003493 MONDO:0006451 True thymus squamous cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003494 MONDO:0005096 True ovarian squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003494 MONDO:0005140 True ovarian squamous cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003497 MONDO:0005096 True renal pelvis squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003497 MONDO:0005519 True renal pelvis squamous cell carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003499 MONDO:0002529 True sarcomatoid squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003500 MONDO:0005496 True squamous cell bile duct carcinoma bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003501 MONDO:0002944 True external ear squamous cell carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003501 MONDO:0010150 True external ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003502 MONDO:0005096 True ureter squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003502 MONDO:0006481 True ureter squamous cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003503 MONDO:0005096 True fallopian tube squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003503 MONDO:0006206 True fallopian tube squamous cell carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003506 MONDO:0000473 True pulmonary artery choriocarcinoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003506 MONDO:0005207 True pulmonary artery choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003506 MONDO:0006290 True pulmonary artery choriocarcinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003506 MONDO:0040676 True pulmonary artery choriocarcinoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003507 MONDO:0005207 True choriocarcinoma of ovary choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003507 MONDO:0018171 True choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003508 MONDO:0002871 True choriocarcinoma of testis testicular trophoblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003508 MONDO:0003403 True choriocarcinoma of testis testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003508 MONDO:0005207 True choriocarcinoma of testis choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003509 MONDO:0002073 True pineal region choriocarcinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003509 MONDO:0016740 True pineal region choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003510 MONDO:0005447 True malignant testicular germ cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003510 MONDO:0006290 True malignant testicular germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003510 MONDO:0010108 True malignant testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003512 MONDO:0006424 True mediastinal mesenchymal tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003512 MONDO:0021386 True mediastinal mesenchymal tumor neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003513 MONDO:0002601 True gastric teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003513 MONDO:0021085 True gastric teratoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003514 MONDO:0002601 True malignant teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003514 MONDO:0006290 True malignant teratoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003515 MONDO:0002601 True fallopian tube teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003515 MONDO:0003392 True fallopian tube teratoma fallopian tube germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003516 MONDO:0002601 True adult teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003516 MONDO:0044878 True adult teratoma adult germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003517 MONDO:0002601 True mature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003518 MONDO:0002601 True mediastinum teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003518 MONDO:0021067 True mediastinum teratoma mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003519 MONDO:0002206 True malignant syringoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003522 MONDO:0040674 True male orgasm disorder orgasm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003523 MONDO:0000386 True gastrin-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003524 MONDO:0003523 True gastric gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003524 MONDO:0015062 True gastric gastrin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003525 MONDO:0003523 True pancreatic gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003525 MONDO:0019954 True pancreatic gastrin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003529 MONDO:0006939 True acute pyelonephritis pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003531 MONDO:0002512 True papillary eccrine carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003531 MONDO:0024240 True papillary eccrine carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003532 MONDO:0002512 True breast papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003534 MONDO:0002512 True papillary thymic adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003534 MONDO:0003209 True papillary thymic adenocarcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003535 MONDO:0002746 True fallopian tube papillary adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003537 MONDO:0003538 True precursor T-lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003537 MONDO:0024615 True precursor T-lymphoblastic lymphoma/leukemia T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003538 MONDO:0005157 True precursor lymphoblastic lymphoma/leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003539 MONDO:0003540 True T-cell adult acute lymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003539 MONDO:0003541 True T-cell adult acute lymphocytic leukemia adult acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003540 MONDO:0004967 True acute T cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003541 MONDO:0004967 True adult acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003542 MONDO:0003394 True dental pulp calcification dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003543 MONDO:0003569 True trigeminal nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003543 MONDO:0003620 True trigeminal nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003544 MONDO:0002714 True spinal cord cancer central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003544 MONDO:0021234 True spinal cord cancer spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003546 MONDO:0003569 True third cranial nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003546 MONDO:0003620 True third cranial nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003548 MONDO:0006074 True adenosquamous breast carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003550 MONDO:0006074 True esophageal adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003551 MONDO:0006074 True thymic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003554 MONDO:0006157 True adenosquamous colon carcinoma colorectal adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003555 MONDO:0006074 True Bartholin gland adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003556 MONDO:0006074 True endometrial adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003557 MONDO:0002640 True optic nerve sheath meningioma optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003557 MONDO:0016642 True optic nerve sheath meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003558 MONDO:0006074 True adenosquamous prostate carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003561 MONDO:0002142 True malignant giant cell tumor of soft parts undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003561 MONDO:0002402 True malignant giant cell tumor of soft parts malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003563 MONDO:0002771 True diffuse pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003564 MONDO:0002771 True localized pulmonary fibrosis pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003565 MONDO:0021239 True urethral villous adenoma urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003567 MONDO:0002467 True bilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003569 MONDO:0005071 True cranial nerve neuropathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003570 MONDO:0004993 True lipid-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003572 MONDO:0005232 True nasopharyngeal type undifferentiated carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003573 MONDO:0006406 True pleomorphic carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003574 MONDO:0003277 True external ear cancer malignant ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003574 MONDO:0004532 True external ear cancer auditory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003574 MONDO:0021235 True external ear cancer external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003575 MONDO:0004993 True comedocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003578 MONDO:0003113 True extragonadal nonseminomatous germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003579 MONDO:0001834 True retinal nerve fiber layer disorder visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003579 MONDO:0005283 True retinal nerve fiber layer disorder retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003581 MONDO:0005440 True ovarian embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003581 MONDO:0016096 True ovarian embryonal carcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003582 MONDO:0000426 True hereditary breast ovarian cancer syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003584 MONDO:0001834 True visual cortex disorder visual pathway disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003585 MONDO:0005060 True adult liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003586 MONDO:0001204 True esophagus liposarcoma esophagus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003586 MONDO:0005060 True esophagus liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003587 MONDO:0005060 True pediatric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003587 MONDO:0006517 True pediatric liposarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003588 MONDO:0002448 True larynx liposarcoma laryngeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003588 MONDO:0005060 True larynx liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003589 MONDO:0002225 True liposarcoma of the ovary ovarian sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003589 MONDO:0005060 True liposarcoma of the ovary liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003590 MONDO:0005060 True fibroblastic liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003591 MONDO:0002930 True kidney liposarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003591 MONDO:0005060 True kidney liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003592 MONDO:0001056 True gastric liposarcoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003592 MONDO:0005060 True gastric liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003593 MONDO:0002490 True breast liposarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003593 MONDO:0005060 True breast liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003594 MONDO:0005060 True mixed liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003599 MONDO:0005060 True vulvar liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003599 MONDO:0005214 True vulvar liposarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003600 MONDO:0005060 True cutaneous liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003600 MONDO:0006414 True cutaneous liposarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003601 MONDO:0002852 True mediastinum liposarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003601 MONDO:0005060 True mediastinum liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003602 MONDO:0005060 True intracranial liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003606 MONDO:0002817 True adrenal medulla cancer adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003606 MONDO:0021237 True adrenal medulla cancer adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003608 MONDO:0002135 True optic atrophy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003609 MONDO:0002369 True seminal vesicle cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003609 MONDO:0002790 True seminal vesicle cystadenoma seminal vesicle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003610 MONDO:0004005 True rete ovarii cystadenoma rete ovarii adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003611 MONDO:0021091 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003611 MONDO:0021629 True uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003612 MONDO:0021629 True uterine ligament cancer uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003614 MONDO:0003295 True intravenous leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003616 MONDO:0003617 True salpingitis isthmica nodosa chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003617 MONDO:0003619 True chronic salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003618 MONDO:0003619 True pyosalpinx salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003619 MONDO:0002156 True salpingitis fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003620 MONDO:0005071 True peripheral nervous system disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003621 MONDO:0002995 True small intestinal vasoactive intestinal peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003621 MONDO:0019960 True small intestinal vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003622 MONDO:0019960 True pancreatic vasoactive intestinal peptide producing tumor VIPoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003624 MONDO:0004965 True acinic cell breast carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003626 MONDO:0002741 True uterine ligament serous adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003627 MONDO:0000603 True rheumatic pulmonary valve disease autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003627 MONDO:0003628 True rheumatic pulmonary valve disease pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003628 MONDO:0002869 True pulmonary valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003629 MONDO:0006003 True uterine corpus serous adenocarcinoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003630 MONDO:0002810 True pancreatic serous cystadenocarcinoma pancreatic serous cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003630 MONDO:0002867 True pancreatic serous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003630 MONDO:0024621 True pancreatic serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003631 MONDO:0005153 True cervical serous adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003631 MONDO:0005278 True cervical serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003632 MONDO:0002345 True endocervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003633 MONDO:0004992 True malignant mesenchymoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003633 MONDO:0006854 True malignant mesenchymoma mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003634 MONDO:0005240 True proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003635 MONDO:0004988 True sebaceous breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003635 MONDO:0006256 True sebaceous breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003635 MONDO:0006962 True sebaceous breast carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003636 MONDO:0006962 True vulvar sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003636 MONDO:0024336 True vulvar sebaceous carcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003637 MONDO:0002732 True clear cell-sugar-tumor of the lung lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003637 MONDO:0020581 True clear cell-sugar-tumor of the lung benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003637 MONDO:0020588 True clear cell-sugar-tumor of the lung lung PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003638 MONDO:0008903 True lung meningioma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003638 MONDO:0016642 True lung meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003639 MONDO:0021117 True lung hilum neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003641 MONDO:0006130 True central nervous system hematopoietic neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003641 MONDO:0044881 True central nervous system hematopoietic neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003643 MONDO:0003155 True giant hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003644 MONDO:0002278 True cavernous hemangioma of colon benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003644 MONDO:0003155 True cavernous hemangioma of colon cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003645 MONDO:0003155 True cavernous hemangioma of face cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003646 MONDO:0002883 True rectum neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003647 MONDO:0003648 True atrophic flaccid tympanic membrane tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003648 MONDO:0003276 True tympanic membrane disorder middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003649 MONDO:0000386 True esophageal neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003649 MONDO:0021355 True esophageal neuroendocrine tumor neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003650 MONDO:0018666 True mixed hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003651 MONDO:0018666 True macrotrabecular hepatoblastoma hepatoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003652 MONDO:0008171 True acute urate nephropathy nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003654 MONDO:0002623 True childhood parosteal osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003654 MONDO:0006817 True childhood parosteal osteosarcoma juxtacortical osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003655 MONDO:0002571 True cerebral lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003655 MONDO:0002731 True cerebral lymphoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003656 MONDO:0003634 True hemoglobinuria proteinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003658 MONDO:0005062 True B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003659 MONDO:0005062 True pediatric lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003659 MONDO:0006517 True pediatric lymphoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003660 MONDO:0005062 True adult lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003661 MONDO:0005062 True breast lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003661 MONDO:0007254 True breast lymphoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003663 MONDO:0002741 True uterine ligament endometrioid adenocarcinoma uterine ligament adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003664 MONDO:0004139 True hemolytic anemia normocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003665 MONDO:0005026 True cervical endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003665 MONDO:0005153 True cervical endometrioid adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003666 MONDO:0002746 True fallopian tube endometrioid adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003666 MONDO:0005026 True fallopian tube endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003668 MONDO:0003001 True extragonadal seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003668 MONDO:0003113 True extragonadal seminoma extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003669 MONDO:0002874 True testicular seminoma testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003669 MONDO:0003001 True testicular seminoma seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003669 MONDO:0003510 True testicular seminoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003670 MONDO:0005068 True posteroinferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003671 MONDO:0005068 True septal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003672 MONDO:0005068 True posterior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003673 MONDO:0005068 True apical myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003674 MONDO:0005068 True subendocardial myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003675 MONDO:0005068 True posterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003676 MONDO:0005068 True inferolateral myocardial infarct myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003677 MONDO:0005068 True lateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003678 MONDO:0005068 True silent myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003679 MONDO:0005068 True anteroseptal myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003680 MONDO:0021054 True periosteal chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003681 MONDO:0008977 True myxoid chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003682 MONDO:0008977 True localized chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003684 MONDO:0021054 True clear cell chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003685 MONDO:0005040 True retroperitoneal germ cell neoplasm germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003685 MONDO:0024645 True retroperitoneal germ cell neoplasm retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003686 MONDO:0002381 True apocrine sweat gland neoplasm sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003687 MONDO:0001340 True endocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003687 MONDO:0021378 True endocardium cancer neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003689 MONDO:0003664 True familial hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003690 MONDO:0016700 True adult anaplastic ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003691 MONDO:0003633 True childhood malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003692 MONDO:0003633 True adult malignant mesenchymoma malignant mesenchymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003693 MONDO:0003460 True clear cell cystadenofibroma clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003693 MONDO:0003464 True clear cell cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003694 MONDO:0003693 True ovarian clear cell cystadenofibroma clear cell cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003694 MONDO:0003695 True ovarian clear cell cystadenofibroma ovarian clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003695 MONDO:0000646 True ovarian clear cell adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003695 MONDO:0003460 True ovarian clear cell adenofibroma clear cell adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003697 MONDO:0003698 True non-invasive verrucous carcinoma of the penis penis verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003698 MONDO:0004433 True penis verrucous carcinoma papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003698 MONDO:0006006 True penis verrucous carcinoma verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003699 MONDO:0005618 True phobic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003700 MONDO:0003100 True brachial plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003701 MONDO:0005075 True thyroid gland diffuse sclerosing papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003702 MONDO:0000632 True uterus intravascular leiomyomatosis uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003702 MONDO:0003614 True uterus intravascular leiomyomatosis intravenous leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003704 MONDO:0003295 True uterine corpus diffuse leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003704 MONDO:0007886 True uterine corpus diffuse leiomyomatosis uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003705 MONDO:0003153 True adult brainstem mixed glioma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003706 MONDO:0002503 True adult brainstem astrocytoma adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003706 MONDO:0003153 True adult brainstem astrocytoma adult brainstem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003706 MONDO:0003173 True adult brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003707 MONDO:0003090 True distal biliary tract carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003708 MONDO:0000402 True extrahepatic bile duct small cell adenocarcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003708 MONDO:0002665 True extrahepatic bile duct small cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003709 MONDO:0003699 True agoraphobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003710 MONDO:0003408 True ovarian mixed germ cell neoplasm ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003710 MONDO:0015864 True ovarian mixed germ cell neoplasm mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003712 MONDO:0003143 True angiokeratoma of mibelli angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003714 MONDO:0002760 True bladder urachal squamous cell carcinoma bladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003714 MONDO:0003715 True bladder urachal squamous cell carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003715 MONDO:0004986 True bladder urachal carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003716 MONDO:0003717 True renal pelvis papillary urothelial carcinoma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003716 MONDO:0005221 True renal pelvis papillary urothelial carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003716 MONDO:0006350 True renal pelvis papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003717 MONDO:0003443 True renal pelvis papillary tumor papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003717 MONDO:0003719 True renal pelvis papillary tumor renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003718 MONDO:0011057 True occlusion precerebral artery cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003719 MONDO:0021163 True renal pelvis neoplasm kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003720 MONDO:0002930 True kidney fibrosarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003720 MONDO:0005164 True kidney fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003721 MONDO:0002621 True kidney osteogenic sarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003721 MONDO:0002930 True kidney osteogenic sarcoma kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003722 MONDO:0003121 True internal auditory canal meningioma middle cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003724 MONDO:0005219 True non-proliferative fibrocystic change of the breast breast fibrocystic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003725 MONDO:0002657 True breast adenosis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003726 MONDO:0003724 True apocrine adenosis of breast non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003727 MONDO:0012000 True animal phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003728 MONDO:0002490 True breast fibrosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003728 MONDO:0005164 True breast fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003729 MONDO:0003730 True aleukemic leukemia cutis aleukemic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003730 MONDO:0005059 True aleukemic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003731 MONDO:0002718 True adult central nervous system teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003731 MONDO:0003405 True adult central nervous system teratoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003731 MONDO:0003516 True adult central nervous system teratoma adult teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003732 MONDO:0003731 True adult central nervous system mature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003732 MONDO:0003733 True adult central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003733 MONDO:0002718 True central nervous system mature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003733 MONDO:0003517 True central nervous system mature teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003734 MONDO:0003731 True adult central nervous system immature teratoma adult central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003734 MONDO:0003735 True adult central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003735 MONDO:0002718 True central nervous system immature teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003736 MONDO:0000600 True cancerophobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003737 MONDO:0000377 True malignant testicular Leydig cell tumor malignant Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003737 MONDO:0003124 True malignant testicular Leydig cell tumor testicular Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003738 MONDO:0001342 True selective IgE deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003739 MONDO:0002211 True selective immunoglobulin deficiency disease B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003740 MONDO:0000600 True AIDS phobia nosophobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003741 MONDO:0003395 True juvenile type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003742 MONDO:0003354 True heart fibrosarcoma heart sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003742 MONDO:0005164 True heart fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003743 MONDO:0005094 True heart malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003744 MONDO:0006427 True spindle cell intraocular melanoma spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003744 MONDO:0006486 True spindle cell intraocular melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003745 MONDO:0003744 True choroid spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003745 MONDO:0003878 True choroid spindle cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003746 MONDO:0003912 True ciliary body spindle cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003747 MONDO:0002298 True telangiectatic glomangioma cutaneous glomangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003748 MONDO:0012000 True flying phobia specific phobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003749 MONDO:0004335 True esophageal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003750 MONDO:0003000 True childhood central nervous system germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003750 MONDO:0003751 True childhood central nervous system germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003751 MONDO:0005040 True childhood germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003751 MONDO:0021079 True childhood germ cell tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003752 MONDO:0006353 True frontal sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003752 MONDO:0021483 True frontal sinus Schneiderian papilloma benign neoplasm of frontal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003753 MONDO:0001825 True nasal vestibule squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003753 MONDO:0021475 True nasal vestibule squamous papilloma benign neoplasm of nasal cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003754 MONDO:0003757 True Brown-Sequard syndrome paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003755 MONDO:0024337 True urinary tract non-invasive transitional cell neoplasm urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003756 MONDO:0002229 True ovarian mucinous neoplasm ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003758 MONDO:0010108 True childhood testicular germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003758 MONDO:0020577 True childhood testicular germ cell tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003758 MONDO:0037250 True childhood testicular germ cell tumor childhood testicular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003759 MONDO:0003400 True childhood ovarian yolk sac tumor childhood endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003759 MONDO:0003760 True childhood ovarian yolk sac tumor pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003759 MONDO:0006344 True childhood ovarian yolk sac tumor ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003759 MONDO:0020577 True childhood ovarian yolk sac tumor childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003760 MONDO:0003751 True pediatric ovarian germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003760 MONDO:0011366 True pediatric ovarian germ cell tumor ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003761 MONDO:0003762 True leptomeningeal melanoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003761 MONDO:0016747 True leptomeningeal melanoma primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003762 MONDO:0016642 True malignant leptomeningeal tumor meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003762 MONDO:0021322 True malignant leptomeningeal tumor malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003763 MONDO:0005618 True acute stress disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003764 MONDO:0003761 True pediatric leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003765 MONDO:0003761 True adult leptomeningeal melanoma leptomeningeal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003766 MONDO:0002786 True thalamic cancer diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003767 MONDO:0002869 True mitral valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003768 MONDO:0002742 True signet ring cell variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003768 MONDO:0005092 True signet ring cell variant cervical mucinous adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003769 MONDO:0002270 True herpetic gastritis viral gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003770 MONDO:0001279 True thoracic spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003771 MONDO:0016642 True jugular foramen meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003772 MONDO:0000642 True cerebral meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003772 MONDO:0002731 True cerebral meningioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003773 MONDO:0003772 True intracerebral cystic meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003774 MONDO:0003772 True cerebral convexity meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003775 MONDO:0002772 True lateral ventricle meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003775 MONDO:0003772 True lateral ventricle meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003776 MONDO:0003777 True renal pelvis inverted papilloma renal pelvis urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003776 MONDO:0021109 True renal pelvis inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003777 MONDO:0003717 True renal pelvis urothelial papilloma renal pelvis papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003777 MONDO:0004041 True renal pelvis urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003777 MONDO:0021467 True renal pelvis urothelial papilloma benign neoplasm of renal pelvis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003781 MONDO:0001358 True bronchitis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003782 MONDO:0003356 True uterine corpus epithelioid leiomyosarcoma epithelioid leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003782 MONDO:0016262 True uterine corpus epithelioid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003783 MONDO:0003785 True lymphopenia leukopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003784 MONDO:0003212 True nasal cavity carcinoma in situ nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003784 MONDO:0004647 True nasal cavity carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003785 MONDO:0004805 True leukopenia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003786 MONDO:0003508 True childhood testicular choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003786 MONDO:0003758 True childhood testicular choriocarcinoma childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003786 MONDO:0004479 True childhood testicular choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003787 MONDO:0003120 True childhood testicular mixed germ cell cancer mixed testicular germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003787 MONDO:0003758 True childhood testicular mixed germ cell cancer childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003787 MONDO:0004479 True childhood testicular mixed germ cell cancer malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003788 MONDO:0003758 True childhood embryonal testis carcinoma childhood testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003788 MONDO:0004479 True childhood embryonal testis carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003788 MONDO:0006446 True childhood embryonal testis carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003789 MONDO:0003008 True hereditary papillary renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003789 MONDO:0017884 True hereditary papillary renal cell carcinoma papillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003790 MONDO:0002834 True prostatic urethra urothelial carcinoma primary prostate urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003790 MONDO:0002836 True prostatic urethra urothelial carcinoma urethra transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003790 MONDO:0003791 True prostatic urethra urothelial carcinoma prostatic urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003791 MONDO:0004197 True prostatic urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003792 MONDO:0002928 True ovarian carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003792 MONDO:0003812 True ovarian carcinosarcoma ovarian endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003795 MONDO:0005140 True ovarian small cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003796 MONDO:0002168 True rectum Kaposi sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003796 MONDO:0024659 True rectum Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003799 MONDO:0006170 True conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003800 MONDO:0009330 True conventional malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003801 MONDO:0021238 True corneal intraepithelial neoplasm cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003801 MONDO:0024475 True corneal intraepithelial neoplasm squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003802 MONDO:0002236 True cornea cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003802 MONDO:0021238 True cornea cancer cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003803 MONDO:0005561 True aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003806 MONDO:0015074 True thyroid hyalinizing trabecular adenoma thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003808 MONDO:0002621 True mediastinal extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003809 MONDO:0009330 True malignant mediastinum hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003810 MONDO:0003386 True bladder diffuse clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003811 MONDO:0002229 True ovarian seromucinous tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003812 MONDO:0002480 True ovarian endometrial cancer endometrioid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003812 MONDO:0018364 True ovarian endometrial cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003813 MONDO:0002229 True ovarian papillary tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003813 MONDO:0021096 True ovarian papillary tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003818 MONDO:0003819 True childhood mature teratoma of the ovary childhood teratoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003818 MONDO:0003820 True childhood mature teratoma of the ovary mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003819 MONDO:0003760 True childhood teratoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003819 MONDO:0005602 True childhood teratoma of the ovary ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003820 MONDO:0003517 True mature ovarian teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003820 MONDO:0003821 True mature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003821 MONDO:0005602 True ovarian biphasic or triphasic teratoma ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003822 MONDO:0003442 True non-invasive bladder papillary urothelial neoplasm bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003822 MONDO:0003755 True non-invasive bladder papillary urothelial neoplasm urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003824 MONDO:0003825 True hereditary kidney oncocytoma kidney oncocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003825 MONDO:0002513 True kidney oncocytoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003825 MONDO:0010795 True kidney oncocytoma oncocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003825 MONDO:0036976 True kidney oncocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003826 MONDO:0003668 True mediastinum seminoma extragonadal seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003826 MONDO:0006298 True mediastinum seminoma mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003828 MONDO:0002109 True growth hormone-producing pituitary gland carcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003829 MONDO:0002395 True chromophil adenoma of the kidney renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003829 MONDO:0002533 True chromophil adenoma of the kidney papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003830 MONDO:0003829 True type 1 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003831 MONDO:0003829 True type 2 papillary adenoma of the kidney chromophil adenoma of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003832 MONDO:0003778 True complement deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003834 MONDO:0001063 True gastric cardia carcinoma cardia cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003834 MONDO:0004950 True gastric cardia carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003835 MONDO:0003834 True gastric cardia adenocarcinoma gastric cardia carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003835 MONDO:0005036 True gastric cardia adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003836 MONDO:0003837 True malignant thyroid stimulating hormone producing neoplasm of pituitary gland TSH producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003837 MONDO:0003429 True TSH producing pituitary tumor functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003839 MONDO:0002991 True ovarian mucinous adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003839 MONDO:0024282 True ovarian mucinous adenocarcinofibroma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003840 MONDO:0003841 True epicardium lipoma heart lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003840 MONDO:0021508 True epicardium lipoma benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003841 MONDO:0005106 True heart lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003841 MONDO:0021450 True heart lipoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003842 MONDO:0002505 True childhood cerebellar astrocytic neoplasm childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003842 MONDO:0003165 True childhood cerebellar astrocytic neoplasm cerebellar astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003842 MONDO:0003263 True childhood cerebellar astrocytic neoplasm childhood cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003843 MONDO:0003844 True cerebral hemisphere lipoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003843 MONDO:0021497 True cerebral hemisphere lipoma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003844 MONDO:0000628 True central nervous system lipoma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003844 MONDO:0005106 True central nervous system lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003845 MONDO:0003843 True corpus callosum lipoma cerebral hemisphere lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003846 MONDO:0001409 True viral esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003846 MONDO:0005108 True viral esophagitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003848 MONDO:0003393 True ectopic thymus thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003849 MONDO:0002892 True clivus chordoma skull base chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003850 MONDO:0003849 True clivus chondroid chordoma clivus chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003850 MONDO:0006145 True clivus chondroid chordoma chondroid chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003851 MONDO:0003820 True ovarian fetiform teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003852 MONDO:0003820 True ovarian solid teratoma mature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003853 MONDO:0002829 True Bartholin gland adenocarcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003853 MONDO:0024336 True Bartholin gland adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003856 MONDO:0009330 True adult malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003857 MONDO:0037740 True adult intracranial malignant hemangiopericytoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003858 MONDO:0024648 True anterior optic tract meningioma optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003859 MONDO:0002640 True bilateral meningioma of optic nerve optic nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003859 MONDO:0024648 True bilateral meningioma of optic nerve optic tract meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003860 MONDO:0000642 True cerebellopontine angle meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003860 MONDO:0002553 True cerebellopontine angle meningioma cerebellopontine angle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003861 MONDO:0024240 True vulvar eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003861 MONDO:0024336 True vulvar eccrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003862 MONDO:0003863 True melanotic psammomatous malignant peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003863 MONDO:0017827 True malignant melanocytic neoplasm of the peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003864 MONDO:0004948 True chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003865 MONDO:0005012 True acral lentiginous melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003866 MONDO:0002397 True liver extraskeletal osteosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003866 MONDO:0002621 True liver extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003867 MONDO:0003222 True diffuse meningeal melanocytosis central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003868 MONDO:0003109 True anterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003869 MONDO:0002911 True childhood brain stem glioma brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003869 MONDO:0002914 True childhood brain stem glioma childhood brain stem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003870 MONDO:0002505 True childhood brainstem astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003870 MONDO:0003173 True childhood brainstem astrocytoma brain stem astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003870 MONDO:0003869 True childhood brainstem astrocytoma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003872 MONDO:0003813 True ovarian papillary cystadenoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003872 MONDO:0005183 True ovarian papillary cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003873 MONDO:0000646 True ovarian surface papilloma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003873 MONDO:0002362 True ovarian surface papilloma serous surface papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003873 MONDO:0003813 True ovarian surface papilloma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003874 MONDO:0002512 True ovarian serous surface papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003874 MONDO:0003813 True ovarian serous surface papillary adenocarcinoma ovarian papillary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003874 MONDO:0005211 True ovarian serous surface papillary adenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003875 MONDO:0003733 True childhood central nervous system mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003875 MONDO:0003750 True childhood central nervous system mature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003876 MONDO:0002466 True eyelid carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003876 MONDO:0002656 True eyelid carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003876 MONDO:0021313 True eyelid carcinoma eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003878 MONDO:0006486 True malignant choroid melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003878 MONDO:0006700 True malignant choroid melanoma choroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003879 MONDO:0008170 True ovarian endometrioid adenocarcinofibroma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003880 MONDO:0002944 True ceruminous carcinoma external ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003880 MONDO:0003214 True ceruminous carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003881 MONDO:0003214 True vulvar apocrine adenocarcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003881 MONDO:0024336 True vulvar apocrine adenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003882 MONDO:0002217 True central nervous system fibrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003882 MONDO:0005164 True central nervous system fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003884 MONDO:0003885 True lipoma of the rectum colorectal lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003884 MONDO:0021462 True lipoma of the rectum benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003885 MONDO:0005106 True colorectal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003885 MONDO:0021444 True colorectal lipoma benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003886 MONDO:0002398 True mucinous cystadenofibroma mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003886 MONDO:0003464 True mucinous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003887 MONDO:0000646 True ovarian mucinous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003887 MONDO:0002229 True ovarian mucinous adenofibroma ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003887 MONDO:0002398 True ovarian mucinous adenofibroma mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003888 MONDO:0003787 True childhood testicular mixed embryonal carcinoma and teratoma childhood testicular mixed germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003889 MONDO:0003890 True infiltrating bladder urothelial carcinoma, clear cell variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003890 MONDO:0005611 True infiltrating bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003890 MONDO:0040678 True infiltrating bladder urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003891 MONDO:0002751 True bladder signet ring cell adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003891 MONDO:0005092 True bladder signet ring cell adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003892 MONDO:0005061 True acinar lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003893 MONDO:0003562 True rete testis adenoma rete testis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003893 MONDO:0004972 True rete testis adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003894 MONDO:0002558 True mediastinal melanocytic neurilemmoma melanotic neurilemmoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003895 MONDO:0002628 True periosteal osteogenic sarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003896 MONDO:0002407 True breast capillary hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003896 MONDO:0003126 True breast capillary hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003897 MONDO:0003126 True breast epithelioid hemangioma breast hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003897 MONDO:0021169 True breast epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003898 MONDO:0003681 True pediatric myxoid chondrosarcoma myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003898 MONDO:0006517 True pediatric myxoid chondrosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003901 MONDO:0016748 True cerebellar hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003902 MONDO:0016748 True brain stem hemangioblastoma hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003903 MONDO:0001731 True benign vaginal mixed tumor benign vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003904 MONDO:0005097 True lung occult squamous cell carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003905 MONDO:0006344 True ovarian yolk sac tumor, glandular pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003906 MONDO:0006344 True ovarian yolk sac tumor, hepatoid pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003907 MONDO:0006344 True ovarian yolk sac tumor, polyvesicular vitelline pattern ovarian yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003908 MONDO:0002919 True clivus meningioma posterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003908 MONDO:0002998 True clivus meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003909 MONDO:0002193 True Bartholin gland adenomyoma Bartholin gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003909 MONDO:0002198 True Bartholin gland adenomyoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003909 MONDO:0036976 True Bartholin gland adenomyoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003910 MONDO:0006486 True mixed cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003911 MONDO:0003910 True ciliary body mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003911 MONDO:0003912 True ciliary body mixed cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003912 MONDO:0002969 True malignant ciliary body melanoma ciliary body cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003913 MONDO:0003878 True choroid mixed cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003913 MONDO:0003910 True choroid mixed cell melanoma mixed cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003915 MONDO:0016974 True cortical thymoma thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003916 MONDO:0005137 True overnutrition nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003917 MONDO:0001340 True heart lymphoma heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003917 MONDO:0005062 True heart lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003918 MONDO:0016642 True angiomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003921 MONDO:0003109 True posterior foramen magnum meningioma foramen magnum meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003922 MONDO:0000548 True ovarian clear cell malignant adenofibroma ovarian clear cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003923 MONDO:0006353 True ethmoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003923 MONDO:0021515 True ethmoid sinus Schneiderian papilloma benign neoplasm of ethmoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003924 MONDO:0004972 True adrenal cortex adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003924 MONDO:0021511 True adrenal cortex adenoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003924 MONDO:0036591 True adrenal cortex adenoma adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003924 MONDO:0036976 True adrenal cortex adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003925 MONDO:0002537 True ethmoid sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003925 MONDO:0003923 True ethmoid sinus inverted papilloma ethmoid sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003926 MONDO:0004820 True neurilemmoma of the pleura peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003927 MONDO:0006486 True posterior uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003928 MONDO:0003359 True uterine corpus myxoid leiomyosarcoma myxoid leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003928 MONDO:0016262 True uterine corpus myxoid leiomyosarcoma leiomyosarcoma of the corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003929 MONDO:0002194 True vestibular micropapillomatosis vestibular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003930 MONDO:0005611 True non-invasive bladder urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003931 MONDO:0024649 True childhood optic tract astrocytoma optic tract astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003932 MONDO:0003235 True childhood optic nerve glioma optic nerve glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003932 MONDO:0021079 True childhood optic nerve glioma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003933 MONDO:0002129 True chest wall bone cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003933 MONDO:0021323 True chest wall bone cancer malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003934 MONDO:0003214 True breast apocrine carcinoma apocrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003935 MONDO:0004988 True oncocytic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003935 MONDO:0006256 True oncocytic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003936 MONDO:0005606 True invasive tubular breast carcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003938 MONDO:0002751 True bladder colonic type adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003939 MONDO:0002081 True muscle tissue disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003940 MONDO:0005095 True Kummell disease spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003941 MONDO:0017885 True classic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003942 MONDO:0017885 True eosinophilic variant of chromophobe renal cell carcinoma chromophobe renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003943 MONDO:0003844 True central nervous system hibernoma central nervous system lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003943 MONDO:0021168 True central nervous system hibernoma hibernoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003944 MONDO:0003293 True endobronchial leiomyoma lung leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003945 MONDO:0021169 True bone epithelioid hemangioma epithelioid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003946 MONDO:0003434 True vaginal villous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003947 MONDO:0002468 True hyper-IgM syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003948 MONDO:0003428 True cerebral hemangioma brain hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003948 MONDO:0021497 True cerebral hemangioma benign neoplasm of cerebrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003950 MONDO:0002482 True nipple carcinoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003950 MONDO:0004989 True nipple carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003951 MONDO:0003110 True scrotal hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003951 MONDO:0021472 True scrotal hemangioma benign neoplasm of scrotum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003952 MONDO:0003405 True adult central nervous system choriocarcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003952 MONDO:0016740 True adult central nervous system choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003953 MONDO:0003750 True pediatric CNS choriocarcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003953 MONDO:0004479 True pediatric CNS choriocarcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003953 MONDO:0016740 True pediatric CNS choriocarcinoma choriocarcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003955 MONDO:0004253 True juvenile breast papillomatosis intraductal breast papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003956 MONDO:0005381 True Baastrup syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003957 MONDO:0003248 True adult pineoblastoma adult pineal parenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003957 MONDO:0016722 True adult pineoblastoma pineoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003958 MONDO:0003735 True childhood central nervous system immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003958 MONDO:0003750 True childhood central nervous system immature teratoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003959 MONDO:0002485 True breast large cell neuroendocrine carcinoma breast neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003959 MONDO:0005057 True breast large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003959 MONDO:0006256 True breast large cell neuroendocrine carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003960 MONDO:0003050 True pulmonary large cell neuroendocrine carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003960 MONDO:0005057 True pulmonary large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003960 MONDO:0005454 True pulmonary large cell neuroendocrine carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003962 MONDO:0002150 True Froelich syndrome hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003963 MONDO:0002254 True diffuse infiltrative lymphocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003964 MONDO:0021167 True myositis ossificans myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003965 MONDO:0004359 True Capgras syndrome delusional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003966 MONDO:0003508 True testicular monophasic choriocarcinoma choriocarcinoma of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003967 MONDO:0002622 True synchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003968 MONDO:0002622 True asynchronous multifocal osteogenic sarcoma multifocal osteogenic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003969 MONDO:0002491 True amphetamine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003970 MONDO:0004950 True gastric fundus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003971 MONDO:0004950 True gastric pylorus carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003972 MONDO:0004950 True gastric body carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003973 MONDO:0003669 True tubular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003975 MONDO:0004197 True Littre gland carcinoma male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003975 MONDO:0021327 True Littre gland carcinoma carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003976 MONDO:0016975 True malignant type AB thymoma thymoma type AB UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003978 MONDO:0000402 True colon small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003978 MONDO:0002032 True colon small cell neuroendocrine carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003978 MONDO:0002882 True colon small cell neuroendocrine carcinoma colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003979 MONDO:0003420 True intrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003980 MONDO:0004820 True schwannoma of jugular foramen peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003982 MONDO:0004989 True bilateral breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003983 MONDO:0003982 True synchronous bilateral breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003984 MONDO:0005106 True internal auditory canal lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003984 MONDO:0021474 True internal auditory canal lipoma benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003984 MONDO:0024320 True internal auditory canal lipoma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003985 MONDO:0005062 True chest wall lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003985 MONDO:0021323 True chest wall lymphoma malignant neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003987 MONDO:0005062 True lung lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003987 MONDO:0008903 True lung lymphoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003988 MONDO:0003273 True sternum lymphoma sternum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003989 MONDO:0015863 True polyembryoma of the ovary polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003989 MONDO:0016096 True polyembryoma of the ovary malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003990 MONDO:0002483 True malignant breast myoepithelioma breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003990 MONDO:0003158 True malignant breast myoepithelioma malignant myoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003990 MONDO:0006256 True malignant breast myoepithelioma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003991 MONDO:0003204 True villoglandular endometrial endometrioid adenocarcinoma villous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003991 MONDO:0005461 True villoglandular endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003991 MONDO:0006192 True villoglandular endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003992 MONDO:0002578 True childhood botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003992 MONDO:0006517 True childhood botryoid rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003993 MONDO:0003992 True childhood vagina botryoid rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003993 MONDO:0003994 True childhood vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003994 MONDO:0002578 True botryoid-type embryonal rhabdomyosarcoma of the vagina botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003994 MONDO:0016095 True botryoid-type embryonal rhabdomyosarcoma of the vagina vaginal rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003995 MONDO:0003992 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma childhood botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003995 MONDO:0005214 True vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003996 MONDO:0005560 True basal ganglia disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003997 MONDO:0003352 True colon Kaposi sarcoma colon sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003997 MONDO:0024659 True colon Kaposi sarcoma colorectal Kaposi sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003999 MONDO:0004000 True juvenile pilocytic astrocytoma childhood pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004000 MONDO:0002505 True childhood pilocytic astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004000 MONDO:0016691 True childhood pilocytic astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004005 MONDO:0003192 True rete ovarii adenoma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004005 MONDO:0024276 True rete ovarii adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004006 MONDO:0003192 True rete ovarii cystadenofibroma rete ovarii neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004006 MONDO:0003464 True rete ovarii cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004007 MONDO:0002488 True breast intraductal proliferative lesion intraductal breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004008 MONDO:0004007 True flat ductal epithelial atypia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004009 MONDO:0002837 True kidney pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004009 MONDO:0005221 True kidney pelvis sarcomatoid transitional cell carcinoma renal pelvis urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004010 MONDO:0040678 True infiltrating renal pelvis/ureter urothelial carcinoma infiltrating urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004012 MONDO:0002578 True adult botryoid rhabdomyosarcoma botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004013 MONDO:0003994 True adult vagina botryoid embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004013 MONDO:0004012 True adult vagina botryoid embryonal rhabdomyosarcoma adult botryoid rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004014 MONDO:0001764 True ethmoid sinus ectopic meningioma ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004015 MONDO:0002718 True pineal region teratoma central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004015 MONDO:0021232 True pineal region teratoma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004016 MONDO:0003733 True pineal region mature teratoma central nervous system mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004016 MONDO:0004015 True pineal region mature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004017 MONDO:0002073 True pineal region immature teratoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004017 MONDO:0003735 True pineal region immature teratoma central nervous system immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004017 MONDO:0004015 True pineal region immature teratoma pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004017 MONDO:0024746 True pineal region immature teratoma immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004019 MONDO:0005461 True oxyphilic endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004019 MONDO:0006192 True oxyphilic endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004020 MONDO:0003658 True mediastinal gray zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004020 MONDO:0004021 True mediastinal gray zone lymphoma mediastinal malignant lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004021 MONDO:0005062 True mediastinal malignant lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004021 MONDO:0005843 True mediastinal malignant lymphoma mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004022 MONDO:0003772 True parasagittal meningioma cerebral meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004024 MONDO:0002749 True spinal cord neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004024 MONDO:0003544 True spinal cord neuroblastoma spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004026 MONDO:0006603 True skin tag reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004028 MONDO:0003361 True small intestinal fibrosarcoma small intestinal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004030 MONDO:0020654 True ureter transitional cell carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004031 MONDO:0005140 True ovary mixed epithelial carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004032 MONDO:0003811 True ovarian seromucinous carcinoma ovarian seromucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004032 MONDO:0005853 True ovarian seromucinous carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004032 MONDO:0018364 True ovarian seromucinous carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004037 MONDO:0005283 True retinal edema retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004038 MONDO:0002220 True dental enamel hypoplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004039 MONDO:0002665 True papillary extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004040 MONDO:0021109 True urinary bladder inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004040 MONDO:0044906 True urinary bladder inverted papilloma bladder urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004041 MONDO:0003443 True urothelial papilloma papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004041 MONDO:0003755 True urothelial papilloma urinary tract non-invasive transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004041 MONDO:0004180 True urothelial papilloma benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004041 MONDO:0005605 True urothelial papilloma transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004042 MONDO:0002221 True urethra inverted papilloma urethral urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004042 MONDO:0021109 True urethra inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004043 MONDO:0004044 True ureter inverted papilloma ureter urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004043 MONDO:0021109 True ureter inverted papilloma inverted urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004044 MONDO:0001398 True ureter urothelial papilloma ureter benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004044 MONDO:0004041 True ureter urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004045 MONDO:0003077 True pediatric intraocular retinoblastoma intraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004045 MONDO:0006517 True pediatric intraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004046 MONDO:0000642 True childhood brain meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004046 MONDO:0003057 True childhood brain meningioma pediatric meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004047 MONDO:0005289 True sphenoidal sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004048 MONDO:0003112 True immature gastric teratoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004048 MONDO:0003513 True immature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004049 MONDO:0003763 True combat disorder acute stress disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004050 MONDO:0002629 True telangiectatic osteogenic sarcoma bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004051 MONDO:0003729 True aleukemic monocytic leukemia cutis aleukemic leukemia cutis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004051 MONDO:0007896 True aleukemic monocytic leukemia cutis acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004052 MONDO:0018515 True rectal cloacogenic carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004053 MONDO:0002829 True bartholin gland squamous cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004053 MONDO:0024609 True bartholin gland squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004054 MONDO:0004055 True acute canaliculitis acute inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004055 MONDO:0001854 True acute inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004056 MONDO:0003442 True bladder papillary urothelial carcinoma bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004056 MONDO:0005611 True bladder papillary urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004056 MONDO:0006350 True bladder papillary urothelial carcinoma papillary transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004057 MONDO:0003890 True micropapillary variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004058 MONDO:0001933 True pancreatic cholera endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004059 MONDO:0002220 True dentin sensitivity tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004060 MONDO:0017387 True peripheral epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004062 MONDO:0006486 True intermediate cell type uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004063 MONDO:0004062 True intermediate cell type iris melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004063 MONDO:0004064 True intermediate cell type iris melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004064 MONDO:0002658 True iris melanoma iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004064 MONDO:0006486 True iris melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004065 MONDO:0003878 True intermediate cell type choroid melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004065 MONDO:0004062 True intermediate cell type choroid melanoma intermediate cell type uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004066 MONDO:0003912 True intermediate cell type ciliary body melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004067 MONDO:0004957 True gallbladder mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004067 MONDO:0006215 True gallbladder mucinous adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004069 MONDO:0019243 True inborn mitochondrial metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004071 MONDO:0002505 True childhood cerebral astrocytoma childhood astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004071 MONDO:0002731 True childhood cerebral astrocytoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004071 MONDO:0021633 True childhood cerebral astrocytoma cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004074 MONDO:0003886 True ovarian mucinous cystadenofibroma mucinous cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004074 MONDO:0003887 True ovarian mucinous cystadenofibroma ovarian mucinous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004075 MONDO:0005106 True infiltrating lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004076 MONDO:0005106 True tendon sheath lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004077 MONDO:0005106 True lumbosacral lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004078 MONDO:0003210 True mucinous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004079 MONDO:0003427 True lung mucous gland adenoma bronchus adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004080 MONDO:0002355 True glottis squamous cell carcinoma glottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004080 MONDO:0005595 True glottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004081 MONDO:0002665 True extrahepatic bile duct clear cell adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004081 MONDO:0005004 True extrahepatic bile duct clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004082 MONDO:0003819 True childhood immature teratoma of ovary childhood teratoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004082 MONDO:0018369 True childhood immature teratoma of ovary immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004082 MONDO:0020577 True childhood immature teratoma of ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004083 MONDO:0002656 True Borst-Jadassohn intraepidermal carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004085 MONDO:0003878 True choroid epithelioid cell melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004085 MONDO:0006200 True choroid epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004086 MONDO:0003912 True ciliary body epithelioid cell melanoma malignant ciliary body melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004086 MONDO:0006200 True ciliary body epithelioid cell melanoma epithelioid cell uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004087 MONDO:0003050 True basaloid large cell lung carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004087 MONDO:0006102 True basaloid large cell lung carcinoma basaloid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004088 MONDO:0003486 True cervical basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004088 MONDO:0006143 True cervical basaloid carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004089 MONDO:0003486 True basaloid carcinoma of the penis basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004089 MONDO:0020656 True basaloid carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004090 MONDO:0003486 True vulvar basaloid squamous cell carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004090 MONDO:0024609 True vulvar basaloid squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004091 MONDO:0002529 True skin basaloid carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004091 MONDO:0003486 True skin basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004091 MONDO:0005056 True skin basaloid carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004092 MONDO:0003486 True thymic basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004092 MONDO:0003493 True thymic basaloid carcinoma thymus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004093 MONDO:0003486 True esophageal basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004093 MONDO:0005580 True esophageal basaloid carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004094 MONDO:0002998 True multiple skull base meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004095 MONDO:0005062 True B-cell neoplasm lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004096 MONDO:0002378 True spinal cord dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004096 MONDO:0002718 True spinal cord dermoid cyst central nervous system teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004096 MONDO:0021234 True spinal cord dermoid cyst spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004098 MONDO:0002852 True malignant melanocytic peripheral nerve sheath tumor of mediastinum mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004098 MONDO:0003863 True malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004099 MONDO:0002379 True adult cystic teratoma cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004099 MONDO:0003516 True adult cystic teratoma adult teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004100 MONDO:0005454 True lung mixed small cell and squamous cell carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004101 MONDO:0005075 True multicentric papillary thyroid carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004102 MONDO:0005075 True columnar cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004103 MONDO:0005075 True tall cell variant thyroid gland papillary carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004104 MONDO:0004107 True splenic manifestation of hairy cell leukemia splenic manifestation of leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004104 MONDO:0018935 True splenic manifestation of hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004105 MONDO:0006517 True childhood epithelioid sarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004105 MONDO:0017387 True childhood epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004106 MONDO:0003402 True testicular yolk sac tumor, macrocystic pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004107 MONDO:0005059 True splenic manifestation of leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004107 MONDO:0005966 True splenic manifestation of leukemia spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004108 MONDO:0002720 True diaphragma sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004108 MONDO:0002998 True diaphragma sellae meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004109 MONDO:0004427 True epiglottis neoplasm supraglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004110 MONDO:0004111 True refractory hairy cell leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004110 MONDO:0018935 True refractory hairy cell leukemia hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004111 MONDO:0044881 True refractory hematologic cancer hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004112 MONDO:0006032 True radiation cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004114 MONDO:0000402 True urinary bladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004114 MONDO:0004986 True urinary bladder small cell neuroendocrine carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004116 MONDO:0000402 True esophageal small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004116 MONDO:0019086 True esophageal small cell neuroendocrine carcinoma carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004117 MONDO:0000402 True ampulla of vater small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004117 MONDO:0017590 True ampulla of vater small cell neuroendocrine carcinoma carcinoma of the ampulla of vater UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004118 MONDO:0006032 True cystitis cystica cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004120 MONDO:0000402 True Bartholin gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004120 MONDO:0002829 True Bartholin gland small cell carcinoma bartholin gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004120 MONDO:0056816 True Bartholin gland small cell carcinoma vulvar neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004122 MONDO:0000402 True thymus small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004122 MONDO:0020516 True thymus small cell carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004124 MONDO:0002854 True prostate stromal sarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004124 MONDO:0044337 True prostate stromal sarcoma stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004125 MONDO:0003299 True rectum leiomyoma colorectal leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004125 MONDO:0021462 True rectum leiomyoma benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004126 MONDO:0003240 True thyroiditis thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004127 MONDO:0005061 True lung occult adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004128 MONDO:0003050 True lung occult large cell carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004129 MONDO:0007108 True cloacogenic carcinoma anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004130 MONDO:0003486 True anus basaloid carcinoma basaloid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004130 MONDO:0006082 True anus basaloid carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004131 MONDO:0006082 True anal verrucous carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004132 MONDO:0006082 True anal canal squamous cell carcinoma anal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004132 MONDO:0007108 True anal canal squamous cell carcinoma anal canal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004133 MONDO:0006373 True pituitary gland mixed eosinophil-basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004134 MONDO:0002531 True benign dermal neurilemmoma skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004136 MONDO:0005183 True ovarian endometrioid cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004139 MONDO:0002280 True normocytic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004140 MONDO:0003514 True intermediate malignant teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004141 MONDO:0005105 True melanomatosis melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004142 MONDO:0003960 True lung combined large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004142 MONDO:0006167 True lung combined large cell neuroendocrine carcinoma combined lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004143 MONDO:0016642 True psammomatous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004144 MONDO:0016642 True fibrous meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004145 MONDO:0016642 True meningothelial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004146 MONDO:0016642 True transitional meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004147 MONDO:0006456 True noninvasive malignant thymoma thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004148 MONDO:0002518 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004148 MONDO:0006215 True gallbladder papillary neoplasm with an associated invasive carcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004149 MONDO:0006215 True gallbladder pleomorphic giant cell adenocarcinoma gallbladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004150 MONDO:0002056 True breast giant fibroadenoma breast fibroadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004151 MONDO:0003544 True spinal meninges cancer spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004152 MONDO:0003864 True chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004153 MONDO:0003750 True childhood central nervous system embryonal carcinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004153 MONDO:0004479 True childhood central nervous system embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004153 MONDO:0018843 True childhood central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004155 MONDO:0003405 True adult central nervous system embryonal carcinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004155 MONDO:0018843 True adult central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004156 MONDO:0002867 True pancreatic mucinous cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004158 MONDO:0004156 True pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004159 MONDO:0004156 True pancreatic non-invasive mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004160 MONDO:0006026 True female stress incontinence urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004161 MONDO:0007886 True uterine corpus apoplectic leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004162 MONDO:0003296 True uterine corpus cellular leiomyoma cellular leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004162 MONDO:0007886 True uterine corpus cellular leiomyoma uterine corpus leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004163 MONDO:0003715 True bladder urachal urothelial carcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004163 MONDO:0005611 True bladder urachal urothelial carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004164 MONDO:0002493 True lymphoepithelioma-like acinar prostate adenocarcinoma prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004165 MONDO:0003739 True selective IgD deficiency disease selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004166 MONDO:0006206 True hereditary fallopian tube carcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004168 MONDO:0003669 True cribriform variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004169 MONDO:0002263 True premenstrual tension female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004170 MONDO:0001269 True nodular episcleritis scleral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004172 MONDO:0002879 True uterine corpus adenocarcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004173 MONDO:0001869 True adenocarcinoma of skene gland origin paraurethral gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004174 MONDO:0005461 True secretory uterine corpus endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004174 MONDO:0006192 True secretory uterine corpus endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004175 MONDO:0005461 True mucin-rich endometrial endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004176 MONDO:0002621 True childhood extraosseous osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004176 MONDO:0002623 True childhood extraosseous osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004177 MONDO:0004180 True benign urethral neoplasm benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004177 MONDO:0021239 True benign urethral neoplasm urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004178 MONDO:0003402 True testicular yolk sac tumor, endodermal sinus pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004180 MONDO:0005165 True benign urinary system neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004180 MONDO:0021066 True benign urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004181 MONDO:0003725 True breast adenomyoepithelial adenosis breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004182 MONDO:0004986 True stage IVb bladder cancer urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004183 MONDO:0005244 True axonal neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004184 MONDO:0002118 True urethral disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004185 MONDO:0003464 True ovarian serous cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004185 MONDO:0006340 True ovarian serous cystadenofibroma ovarian serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004186 MONDO:0004187 True cranial nodular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004187 MONDO:0004830 True nodular fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004187 MONDO:0006209 True nodular fasciitis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004187 MONDO:0006424 True nodular fasciitis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004187 MONDO:0019296 True nodular fasciitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004188 MONDO:0003744 True iris spindle cell melanoma spindle cell intraocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004188 MONDO:0004064 True iris spindle cell melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004189 MONDO:0003749 True esophageal tuberculosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004189 MONDO:0005768 True esophageal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004190 MONDO:0000384 True nephrogenic adenoma of urinary bladder bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004191 MONDO:0002513 True nephrogenic adenoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004192 MONDO:0006295 True urethra cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004192 MONDO:0021239 True urethra cancer urethra neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004193 MONDO:0003481 True pediatric ovarian dysgerminoma dysgerminoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004193 MONDO:0003760 True pediatric ovarian dysgerminoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004193 MONDO:0004479 True pediatric ovarian dysgerminoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004193 MONDO:0020577 True pediatric ovarian dysgerminoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004194 MONDO:0005558 True ovarian stromal hyperthecosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004195 MONDO:0003393 True thymic dysplasia thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004196 MONDO:0006406 True rectal sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004196 MONDO:0044937 True rectal sarcomatoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004197 MONDO:0004192 True male urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004198 MONDO:0003402 True testicular yolk sac tumor, solid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004199 MONDO:0005056 True vulvar keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004199 MONDO:0024609 True vulvar keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004200 MONDO:0004986 True superficial urinary bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004201 MONDO:0003381 True pituitary hypoplasia pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004202 MONDO:0003606 True adrenal medulla carcinoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004203 MONDO:0004192 True female urethral cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004204 MONDO:0002536 True squamous cell skin papilloma skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004205 MONDO:0006407 True lymphohistiocytoid mesothelioma sarcomatoid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004206 MONDO:0004634 True pulmonary vein leiomyosarcoma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004206 MONDO:0005058 True pulmonary vein leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004207 MONDO:0000473 True pulmonary artery leiomyosarcoma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004207 MONDO:0005058 True pulmonary artery leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004208 MONDO:0005058 True superior vena cava leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004209 MONDO:0002731 True cerebral primitive neuroectodermal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004209 MONDO:0003145 True cerebral primitive neuroectodermal tumor supratentorial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004210 MONDO:0004211 True colonic L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004210 MONDO:0015067 True colonic L-cell glucagon-like peptide producing tumor neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004211 MONDO:0000386 True L-cell glucagon-like peptide-producing neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004212 MONDO:0024609 True vulvar keratoacanthoma-like carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004213 MONDO:0024609 True vulvar non-keratinizing squamous cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004214 MONDO:0003463 True ovarian endometrioid cystadenofibroma ovarian endometrioid adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004214 MONDO:0003464 True ovarian endometrioid cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004215 MONDO:0005119 True cutaneous anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004216 MONDO:0002073 True pineal region germinoma malignant pineal area germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004216 MONDO:0002214 True pineal region germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004217 MONDO:0002214 True childhood brain germinoma brain germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004217 MONDO:0004452 True childhood brain germinoma childhood central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004218 MONDO:0003750 True childhood germ cell brain tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004219 MONDO:0003402 True polyvesicular vitelline pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004220 MONDO:0005461 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004220 MONDO:0006192 True endometrial endometrioid adenocarcinoma with spindled epithelial cells endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004221 MONDO:0006359 True uterine corpus perivascular epithelioid cell tumor neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004222 MONDO:0002702 True ovarian clear cell cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004222 MONDO:0006045 True ovarian clear cell cystadenocarcinoma ovarian clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004223 MONDO:0005079 True polyp of middle ear polyp UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004223 MONDO:0021366 True polyp of middle ear neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004224 MONDO:0003335 True chronic metabolic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004227 MONDO:0004230 True epididymal adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004227 MONDO:0021473 True epididymal adenomatoid tumor benign neoplasm of epididymis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004229 MONDO:0006056 True acantholytic variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004231 MONDO:0006056 True spindle cell variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004231 MONDO:0021663 True spindle cell variant squamous cell breast carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004232 MONDO:0005056 True large cell keratinizing variant squamous cell breast carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004232 MONDO:0006056 True large cell keratinizing variant squamous cell breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004233 MONDO:0006517 True childhood pleomorphic rhabdomyosarcoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004233 MONDO:0017386 True childhood pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004234 MONDO:0005169 True chronic lymphoproliferative disorder of NK-cells neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004235 MONDO:0005020 True diverticulitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004236 MONDO:0015063 True duodenal somatostatinoma duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004237 MONDO:0003050 True large cell carcinoma with rhabdoid phenotype lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004238 MONDO:0016642 True petrous apex meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004239 MONDO:0005056 True cervical keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004239 MONDO:0006143 True cervical keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004240 MONDO:0004192 True posterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004241 MONDO:0002614 True Osgood-Schlatter disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004241 MONDO:0018381 True Osgood-Schlatter disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004242 MONDO:0004247 True active peptic ulcer disease peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004243 MONDO:0004244 True vulvar proximal-type epithelioid sarcoma proximal-type epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004243 MONDO:0005214 True vulvar proximal-type epithelioid sarcoma vulva sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004244 MONDO:0017387 True proximal-type epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004245 MONDO:0005499 True ependymal tumor of brain brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004247 MONDO:0004335 True peptic ulcer disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004248 MONDO:0002915 True pediatric infratentorial ependymoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004249 MONDO:0003478 True pediatric supratentorial ependymoma childhood ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004250 MONDO:0002533 True extrahepatic bile duct papillary adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004250 MONDO:0003445 True extrahepatic bile duct papillary adenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004251 MONDO:0021118 True small intestine neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004252 MONDO:0002995 True small intestinal L-cell glucagon-like peptide producing tumor small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004252 MONDO:0004211 True small intestinal L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004253 MONDO:0021099 True intraductal breast papillomatosis intraductal papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004255 MONDO:0005626 True Wolffian adnexal tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004256 MONDO:0001279 True lumbar spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004257 MONDO:0003750 True childhood central nervous system mixed germ cell tumor childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004257 MONDO:0004479 True childhood central nervous system mixed germ cell tumor malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004257 MONDO:0016742 True childhood central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004258 MONDO:0040674 True female orgasmic disorder orgasm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004259 MONDO:0005131 True endocervical carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004260 MONDO:0004247 True peptic ulcer perforation peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004261 MONDO:0004262 True periductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004262 MONDO:0002483 True breast myoepitheliosis breast myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004263 MONDO:0002915 True pediatric infratentorial ependymoblastoma childhood infratentorial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004263 MONDO:0003107 True pediatric infratentorial ependymoblastoma infratentorial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004263 MONDO:0016715 True pediatric infratentorial ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004264 MONDO:0004265 True acute gonococcal endometritis acute endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004265 MONDO:0000918 True acute endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004266 MONDO:0002652 True anal gland adenocarcinoma anus adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004267 MONDO:0021098 True squamous papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004269 MONDO:0003208 True breast cystic hypersecretory carcinoma breast secretory carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004270 MONDO:0002058 True breast ductal adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004271 MONDO:0002058 True pregnancy adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004272 MONDO:0006002 True urinary bladder tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004272 MONDO:0006026 True urinary bladder tuberculosis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004273 MONDO:0002058 True breast apocrine adenoma breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004274 MONDO:0006043 True mixed epithelial/mesenchymal metaplastic breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004275 MONDO:0002629 True osteosarcoma arising in bone Paget disease bone osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004276 MONDO:0002804 True ceruminoma apocrine adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004277 MONDO:0000314 True gonorrhea primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004278 MONDO:0002837 True infiltrating bladder urothelial carcinoma sarcomatoid variant sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004278 MONDO:0003890 True infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004279 MONDO:0002639 True glossopharyngeal motor neuropathy glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004280 MONDO:0004004 True asymmetric motor neuropathy motor nerve neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004281 MONDO:0003861 True vulvar eccrine porocarcinoma vulvar eccrine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004281 MONDO:0006189 True vulvar eccrine porocarcinoma eccrine porocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004283 MONDO:0006245 True vulvar clear cell hidradenocarcinoma hidradenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004283 MONDO:0024336 True vulvar clear cell hidradenocarcinoma vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004285 MONDO:0005192 True pancreatic intraductal papillary-mucinous carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004286 MONDO:0002116 True pancreatic intraductal papillary-mucinous neoplasm malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004287 MONDO:0005184 True pancreatic foamy gland adenocarcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004288 MONDO:0004953 True scirrhous breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004289 MONDO:0002766 True glottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004289 MONDO:0004080 True glottis verrucous carcinoma glottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004290 MONDO:0002766 True subglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004290 MONDO:0004291 True subglottis verrucous carcinoma subglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004291 MONDO:0004358 True subglottis squamous cell carcinoma subglottis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004291 MONDO:0005595 True subglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004292 MONDO:0002766 True supraglottis verrucous carcinoma larynx verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004292 MONDO:0004293 True supraglottis verrucous carcinoma supraglottis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004293 MONDO:0004357 True supraglottis squamous cell carcinoma carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004293 MONDO:0005595 True supraglottis squamous cell carcinoma laryngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004294 MONDO:0003507 True gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004294 MONDO:0020550 True gestational ovarian choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004295 MONDO:0005138 True asbestos-related lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004296 MONDO:0003572 True cervical lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004296 MONDO:0006143 True cervical lymphoepithelioma-like carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004297 MONDO:0003572 True lymphoepithelioma-like thymic carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004297 MONDO:0006451 True lymphoepithelioma-like thymic carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004298 MONDO:0004335 True stomach disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004299 MONDO:0003572 True infiltrating bladder lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004299 MONDO:0003890 True infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004301 MONDO:0002631 True fibrosarcomatous osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004302 MONDO:0006890 True chief cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004303 MONDO:0003426 True parathyroid gland clear cell adenoma clear cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004303 MONDO:0006890 True parathyroid gland clear cell adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004304 MONDO:0003421 True mixed cell type adenoma of parathyroid mixed cell adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004304 MONDO:0006890 True mixed cell type adenoma of parathyroid parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004305 MONDO:0003424 True parathyroid oncocytic adenoma oncocytic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004305 MONDO:0006890 True parathyroid oncocytic adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004306 MONDO:0002623 True childhood intracortical osteosarcoma pediatric osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004306 MONDO:0002631 True childhood intracortical osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004307 MONDO:0004308 True sarcomatosis of the meninges meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004307 MONDO:0004309 True sarcomatosis of the meninges sarcomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004308 MONDO:0002217 True meningeal sarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004308 MONDO:0021322 True meningeal sarcoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004309 MONDO:0005089 True sarcomatosis sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004310 MONDO:0016715 True adult embryonal tumor with multilayered rosettes, c19mc-altered ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004311 MONDO:0005836 True carcinoma of Cowper glands male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004312 MONDO:0002998 True suprasellar meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004313 MONDO:0016642 True gasserian ganglion meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004314 MONDO:0002291 True malignant cutaneous granular cell skin tumor cutaneous granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004314 MONDO:0003252 True malignant cutaneous granular cell skin tumor granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004314 MONDO:0003363 True malignant cutaneous granular cell skin tumor malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004315 MONDO:0003210 True cholangiolocellular carcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004316 MONDO:0002529 True acantholytic squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004316 MONDO:0005056 True acantholytic squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004317 MONDO:0001279 True multiple spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004318 MONDO:0003795 True pulmonary type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004319 MONDO:0003795 True hypercalcemic type ovarian small cell carcinoma ovarian small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004320 MONDO:0002503 True adult infiltrating astrocytic neoplasm adult astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004321 MONDO:0005461 True endometrial mixed adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004322 MONDO:0003408 True non-gestational ovarian choriocarcinoma ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004322 MONDO:0003507 True non-gestational ovarian choriocarcinoma choriocarcinoma of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004323 MONDO:0005336 True muscular atrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004324 MONDO:0003125 True testicular fibroma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004324 MONDO:0005167 True testicular fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004325 MONDO:0003125 True testicular thecoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004325 MONDO:0037252 True testicular thecoma thecoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004326 MONDO:0002537 True sphenoid sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004326 MONDO:0004327 True sphenoid sinus inverted papilloma sphenoid sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004327 MONDO:0006353 True sphenoid sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004327 MONDO:0021477 True sphenoid sinus Schneiderian papilloma benign neoplasm of sphenoidal sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004328 MONDO:0001748 True maxillary sinus adenocarcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004328 MONDO:0004970 True maxillary sinus adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004329 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004329 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004330 MONDO:0003762 True leptomeningeal sarcoma malignant leptomeningeal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004330 MONDO:0004308 True leptomeningeal sarcoma meningeal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004331 MONDO:0001378 True bladder urachal adenocarcinoma urachus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004331 MONDO:0002751 True bladder urachal adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004331 MONDO:0003715 True bladder urachal adenocarcinoma bladder urachal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004332 MONDO:0003639 True lung hilum cancer lung hilum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004332 MONDO:0008903 True lung hilum cancer lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004334 MONDO:0019954 True non-functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004334 MONDO:0021119 True non-functional pancreatic neuroendocrine tumor non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004336 MONDO:0002169 True rectal signet ring cell adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004336 MONDO:0044336 True rectal signet ring cell adenocarcinoma colorectal signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004337 MONDO:0002651 True perianal skin Paget disease anal Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004337 MONDO:0002941 True perianal skin Paget disease anal margin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004338 MONDO:0003072 True retinal cell cancer retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004339 MONDO:0002720 True tuberculum sellae meningioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004340 MONDO:0005184 True mixed ductal-endocrine carcinoma of pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004341 MONDO:0004957 True colloid carcinoma of the pancreas mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004341 MONDO:0005184 True colloid carcinoma of the pancreas pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004343 MONDO:0002867 True pancreatic acinar cell cystadenocarcinoma pancreatic cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004343 MONDO:0006346 True pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004344 MONDO:0009330 True childhood malignant hemangiopericytoma hemangiopericytoma, malignant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004345 MONDO:0006517 True childhood malignant schwannoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004345 MONDO:0017827 True childhood malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004346 MONDO:0003210 True signet ring cell intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004348 MONDO:0002311 True retinal telangiectasia retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004349 MONDO:0003072 True retina lymphoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004349 MONDO:0004034 True retina lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004350 MONDO:0003078 True pediatric extraocular retinoblastoma extraocular retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004350 MONDO:0006517 True pediatric extraocular retinoblastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004351 MONDO:0004034 True intraocular lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004351 MONDO:0017207 True intraocular lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004352 MONDO:0004245 True adult brain ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004353 MONDO:0003455 True extrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004354 MONDO:0004355 True neonatal leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004355 MONDO:0005059 True childhood leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004355 MONDO:0006517 True childhood leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004356 MONDO:0002730 True childhood multilocular cystic kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004357 MONDO:0001724 True carcinoma of supraglottis supraglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004357 MONDO:0002358 True carcinoma of supraglottis laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004358 MONDO:0001293 True subglottis carcinoma subglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004358 MONDO:0002358 True subglottis carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004359 MONDO:0005485 True delusional disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004360 MONDO:0002490 True breast extraskeletal osteosarcoma breast sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004360 MONDO:0002621 True breast extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004361 MONDO:0003473 True adult spinal cord ependymoma spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004363 MONDO:0002542 True adult spinal cord glioblastoma spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004363 MONDO:0020690 True adult spinal cord glioblastoma adult glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004364 MONDO:0003878 True choroid necrotic melanoma malignant choroid melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004364 MONDO:0004365 True choroid necrotic melanoma necrotic uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004365 MONDO:0006486 True necrotic uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004366 MONDO:0003268 True mixed astrocytoma-ependymoma-oligodendroglioma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004367 MONDO:0002998 True petroclival meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004368 MONDO:0002998 True sphenoorbital meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004369 MONDO:0005240 True renal infectious disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004370 MONDO:0002998 True sphenocavernous meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004371 MONDO:0002918 True spinal multifocal clear cell meningioma clear cell meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004372 MONDO:0003335 True chronic toxic polyneuropathy chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004373 MONDO:0003262 True adult papillary meningioma rhabdoid meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004373 MONDO:0021088 True adult papillary meningioma papillary meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004374 MONDO:0002129 True adult extraskeletal osteosarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004374 MONDO:0002621 True adult extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004375 MONDO:0005300 True end stage renal failure chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004376 MONDO:0002482 True infiltrating nipple syringomatous adenoma nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004377 MONDO:0002994 True pancreatic non-functioning delta cell tumor pancreatic delta cell neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004377 MONDO:0004334 True pancreatic non-functioning delta cell tumor non-functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004378 MONDO:0002731 True pediatric cerebral ependymoblastoma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004378 MONDO:0016715 True pediatric cerebral ependymoblastoma ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004379 MONDO:0004989 True female breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004380 MONDO:0005089 True dendritic cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004380 MONDO:0006247 True dendritic cell sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004381 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004382 MONDO:0004867 True laryngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004383 MONDO:0002999 True adult central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004383 MONDO:0003405 True adult central nervous system germinoma adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004384 MONDO:0002537 True maxillary sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004384 MONDO:0004457 True maxillary sinus inverted papilloma maxillary sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004386 MONDO:0003236 True uterine corpus atypical polypoid adenomyoma atypical polypoid adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004386 MONDO:0003237 True uterine corpus atypical polypoid adenomyoma adenomyoma of uterine corpus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004387 MONDO:0005558 True luteoma of pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004389 MONDO:0002875 True mite infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004390 MONDO:0005328 True ocular hypotension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004392 MONDO:0002217 True intracranial extraskeletal myxoid chondrosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004392 MONDO:0012825 True intracranial extraskeletal myxoid chondrosarcoma extraskeletal myxoid chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004393 MONDO:0003268 True mixed astrocytoma-ependymoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004394 MONDO:0001748 True maxillary sinus squamous cell carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004394 MONDO:0044705 True maxillary sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004396 MONDO:0001279 True cervical spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004397 MONDO:0004398 True benign mediastinal psammomatous neurilemmoma mediastinal schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004398 MONDO:0003098 True mediastinal schwannoma mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004398 MONDO:0004820 True mediastinal schwannoma peripheral nerve schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004398 MONDO:0021521 True mediastinal schwannoma benign neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004400 MONDO:0002588 True malignant type A thymoma thymoma type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004401 MONDO:0003510 True testis refractory cancer malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004401 MONDO:0036501 True testis refractory cancer refractory malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004402 MONDO:0003402 True testicular yolk sac tumor, glandular-alveolar pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004403 MONDO:0003537 True childhood precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004403 MONDO:0006517 True childhood precursor T-lymphoblastic lymphoma/leukemia childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004404 MONDO:0003537 True refractory precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004404 MONDO:0004111 True refractory precursor T-lymphoblastic lymphoma/leukemia refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004405 MONDO:0005028 True Barrett adenocarcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004406 MONDO:0003405 True adult central nervous system mixed germ cell tumor adult central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004406 MONDO:0016742 True adult central nervous system mixed germ cell tumor mixed germ cell tumor of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004407 MONDO:0003325 True stroma-dominant and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004408 MONDO:0003325 True schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma nodular ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004409 MONDO:0003950 True nipple duct carcinoma nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004410 MONDO:0018352 True sarcomatoid penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004410 MONDO:0021663 True sarcomatoid penile squamous cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004411 MONDO:0003523 True duodenal gastrin-producing neuroendocrine tumor gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004411 MONDO:0015063 True duodenal gastrin-producing neuroendocrine tumor duodenal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004412 MONDO:0024882 True malignant spiradenoma secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004413 MONDO:0006143 True cervical non-keratinizing squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004414 MONDO:0000931 True tamoxifen-related endometrial lesion endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004415 MONDO:0003890 True lipid-cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004416 MONDO:0003890 True plasmacytoid variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004417 MONDO:0003890 True nested variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004418 MONDO:0003890 True microcystic variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004419 MONDO:0003890 True lymphoma-like variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004420 MONDO:0004412 True breast malignant eccrine spiradenoma malignant spiradenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004421 MONDO:0021097 True sclerosing breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004422 MONDO:0002997 True cerebral falx meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004423 MONDO:0002217 True central nervous system extraskeletal osteosarcoma central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004423 MONDO:0002621 True central nervous system extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004423 MONDO:0037740 True central nervous system extraskeletal osteosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004425 MONDO:0003240 True hyperthyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004426 MONDO:0003774 True frontal convexity meningioma cerebral convexity meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004427 MONDO:0021071 True supraglottis neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004428 MONDO:0003422 True alveoli adenoma lung adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004429 MONDO:0002898 True skin meningioma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004429 MONDO:0016642 True skin meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004430 MONDO:0018352 True penis mixed squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004431 MONDO:0006816 True hemarthrosis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004432 MONDO:0003517 True mature pericardial teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004432 MONDO:0021381 True mature pericardial teratoma neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004433 MONDO:0002979 True papillary carcinoma of the penis papillary squamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004433 MONDO:0018352 True papillary carcinoma of the penis squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004435 MONDO:0002397 True liver fibrosarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004435 MONDO:0005164 True liver fibrosarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004436 MONDO:0003589 True ovarian myxoid liposarcoma liposarcoma of the ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004436 MONDO:0013280 True ovarian myxoid liposarcoma myxoid liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004438 MONDO:0004989 True sporadic breast cancer breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004439 MONDO:0016642 True periocular meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004440 MONDO:0021232 True pineal region meningioma pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004441 MONDO:0003581 True childhood ovarian embryonal carcinoma ovarian embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004441 MONDO:0003760 True childhood ovarian embryonal carcinoma pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004441 MONDO:0004479 True childhood ovarian embryonal carcinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004441 MONDO:0020577 True childhood ovarian embryonal carcinoma childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004442 MONDO:0003510 True testis polyembryoma malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004442 MONDO:0015863 True testis polyembryoma polyembryoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004443 MONDO:0006351 True chest wall parachordoma parachordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004443 MONDO:0021388 True chest wall parachordoma neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004444 MONDO:0003386 True bladder tubulo-cystic clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004445 MONDO:0003386 True bladder papillary clear cell adenocarcinoma bladder clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004446 MONDO:0002997 True olfactory groove meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004447 MONDO:0002998 True pituitary stalk meningioma skull base meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004448 MONDO:0002537 True frontal sinus inverted papilloma inverted papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004448 MONDO:0003752 True frontal sinus inverted papilloma frontal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004449 MONDO:0004262 True intraductal breast myoepitheliosis breast myoepitheliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004450 MONDO:0003718 True carotid artery occlusion occlusion precerebral artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004450 MONDO:0005269 True carotid artery occlusion carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004451 MONDO:0003210 True sarcomatous intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004452 MONDO:0002999 True childhood central nervous system germinoma central nervous system germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004452 MONDO:0003750 True childhood central nervous system germinoma childhood central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004452 MONDO:0004479 True childhood central nervous system germinoma malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004453 MONDO:0003402 True testicular yolk sac tumor, myxomatous pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004454 MONDO:0017043 True cellular congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004455 MONDO:0017043 True classic congenital mesoblastic nephroma congenital mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004456 MONDO:0002491 True cocaine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004457 MONDO:0006353 True maxillary sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004457 MONDO:0021484 True maxillary sinus Schneiderian papilloma benign neoplasm of maxillary sinus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004458 MONDO:0002751 True bladder mixed adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004459 MONDO:0002751 True bladder hepatoid adenocarcinoma bladder adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004459 MONDO:0006243 True bladder hepatoid adenocarcinoma hepatoid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004460 MONDO:0005032 True thyroid gland fetal adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004461 MONDO:0003434 True vaginal tubulovillous adenoma vaginal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004462 MONDO:0003420 True extrahepatic bile duct cystadenoma bile duct cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004463 MONDO:0009692 True cellular phase chronic idiopathic myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004464 MONDO:0004177 True nephrogenic adenoma of the urethra benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004464 MONDO:0004191 True nephrogenic adenoma of the urethra nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004465 MONDO:0002670 True periampullary adenocarcinoma ampulla of vater adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004466 MONDO:0005071 True neuronitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004467 MONDO:0003513 True mature gastric teratoma gastric teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004467 MONDO:0003517 True mature gastric teratoma mature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004468 MONDO:0002651 True anal canal Paget disease anal Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004468 MONDO:0002735 True anal canal Paget disease anal canal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004469 MONDO:0002529 True pseudovascular skin squamous cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004469 MONDO:0005056 True pseudovascular skin squamous cell carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004472 MONDO:0002707 True breast columnar cell mucinous carcinoma breast mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004473 MONDO:0004109 True epiglottis cancer epiglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004473 MONDO:0004357 True epiglottis cancer carcinoma of supraglottis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004474 MONDO:0004699 True gallbladder lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004474 MONDO:0005411 True gallbladder lymphoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004475 MONDO:0006451 True thymus clear cell carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004477 MONDO:0003327 True adrenal gland ganglioneuroblastoma peripheral ganglioneuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004477 MONDO:0021089 True adrenal gland ganglioneuroblastoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004478 MONDO:0003864 True pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004479 MONDO:0003751 True malignant childhood germ cell neoplasm childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004479 MONDO:0006290 True malignant childhood germ cell neoplasm malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004479 MONDO:0006517 True malignant childhood germ cell neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004481 MONDO:0004285 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004481 MONDO:0004286 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004481 MONDO:0006047 True pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004482 MONDO:0044335 True fibroosseous pseudotumor of the digits benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004483 MONDO:0003424 True thyroid gland oncocytic adenoma oncocytic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004483 MONDO:0005032 True thyroid gland oncocytic adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004484 MONDO:0005411 True gallbladder melanoma gallbladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004484 MONDO:0045070 True gallbladder melanoma digestive system melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004485 MONDO:0004496 True interstitial myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004486 MONDO:0003238 True endocervical type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004487 MONDO:0003238 True endometrial type cervical adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004488 MONDO:0003238 True cervical atypical polypoid adenomyoma cervical adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004489 MONDO:0006206 True fallopian tube gestational choriocarcinoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004489 MONDO:0020550 True fallopian tube gestational choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004490 MONDO:0004491 True gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004490 MONDO:0020550 True gestational uterine corpus choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004491 MONDO:0005207 True uterine corpus choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004493 MONDO:0003402 True testicular yolk sac tumor, papillary pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004494 MONDO:0003402 True testicular yolk sac tumor, hepatoid pattern testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004495 MONDO:0005129 True myotonic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004497 MONDO:0005976 True tertiary syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004498 MONDO:0001279 True sacral spinal canal and spinal cord meningioma intraspinal meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004499 MONDO:0004332 True lung hilum carcinoma lung hilum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004499 MONDO:0005138 True lung hilum carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004500 MONDO:0006883 True lung superior sulcus carcinoma malignant superior sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004501 MONDO:0003461 True fallopian tube cystadenofibroma fallopian tube serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004501 MONDO:0003464 True fallopian tube cystadenofibroma cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004502 MONDO:0016642 True parapharyngeal meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004503 MONDO:0003908 True upper clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004504 MONDO:0004197 True penile urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004505 MONDO:0021097 True central breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004506 MONDO:0021097 True microscopic breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004507 MONDO:0021097 True atypical breast papilloma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004508 MONDO:0005076 True periapical periodontitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004509 MONDO:0003455 True intrahepatic biliary papillomatosis bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004510 MONDO:0006097 True inflammatory liposarcoma atypical lipomatous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004511 MONDO:0003908 True lower clivus meningioma clivus meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004512 MONDO:0004141 True meningeal melanomatosis melanomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004512 MONDO:0016747 True meningeal melanomatosis primary melanoma of the central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004512 MONDO:0021322 True meningeal melanomatosis malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004513 MONDO:0017386 True adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004514 MONDO:0003014 True chronic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004516 MONDO:0004197 True bulbomembranous urethral cancer male urethral cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004517 MONDO:0001926 True ureter tuberculosis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004517 MONDO:0006002 True ureter tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004518 MONDO:0004192 True anterior urethra cancer urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004519 MONDO:0006500 True synovial angioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004519 MONDO:0024715 True synovial angioma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004520 MONDO:0006446 True intratubular embryonal carcinoma testicular embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004521 MONDO:0017387 True adult epithelioid sarcoma epithelioid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004522 MONDO:0004335 True peritonitis digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004523 MONDO:0002529 True clear cell squamous cell skin carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004523 MONDO:0005056 True clear cell squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004524 MONDO:0005032 True thyroid gland atypical follicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004525 MONDO:0004389 True scabies mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004526 MONDO:0006424 True mixed endometrial stromal and smooth muscle tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004526 MONDO:0021254 True mixed endometrial stromal and smooth muscle tumor corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004528 MONDO:0040675 True lymph node palisaded myofibroblastoma myofibroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004529 MONDO:0037745 True non-ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004530 MONDO:0005153 True early invasive cervical adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004531 MONDO:0002585 True sclerosing adenosis of breast breast fibrocystic change, proliferative type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004532 MONDO:0000649 True auditory system cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004532 MONDO:0002409 True auditory system cancer auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004533 MONDO:0003096 True perineural angioma deep hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004534 MONDO:0003725 True microglandular adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004535 MONDO:0003760 True childhood choriocarcinoma of the ovary pediatric ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004535 MONDO:0004322 True childhood choriocarcinoma of the ovary non-gestational ovarian choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004535 MONDO:0004479 True childhood choriocarcinoma of the ovary malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004535 MONDO:0020577 True childhood choriocarcinoma of the ovary childhood gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004537 MONDO:0002742 True intestinal variant cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004537 MONDO:0006254 True intestinal variant cervical mucinous adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004538 MONDO:0002742 True endocervical type cervical mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004539 MONDO:0005561 True aortic malignant tumor aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004539 MONDO:0040676 True aortic malignant tumor great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004540 MONDO:0017827 True epithelioid malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004541 MONDO:0003669 True pseudoglandular variant testicular seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004542 MONDO:0006134 True cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004543 MONDO:0003402 True enteric pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004544 MONDO:0045056 True chordoid meningioma grade II meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004545 MONDO:0017827 True adult malignant schwannoma malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004546 MONDO:0003100 True lumbar plexus neoplasm nerve plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004547 MONDO:0003402 True reticular pattern testicular yolk sac tumor testicular yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004548 MONDO:0003395 True adult type testicular granulosa cell tumor testicular granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004549 MONDO:0017853 True cork-handlers' disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004550 MONDO:0003802 True malignant cornea melanoma cornea cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004550 MONDO:0006325 True malignant cornea melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004552 MONDO:0006143 True microinvasive cervical squamous cell carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004554 MONDO:0002730 True childhood kidney angiomyolipoma childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004554 MONDO:0004555 True childhood kidney angiomyolipoma kidney angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004555 MONDO:0002513 True kidney angiomyolipoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004555 MONDO:0002603 True kidney angiomyolipoma angiomyolipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004556 MONDO:0003212 True carcinoma arising in nasal papillomatosis nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004557 MONDO:0002678 True congenital fibrosarcoma pediatric fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004558 MONDO:0005032 True thyroid gland macrofollicular adenoma follicular thyroid adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004559 MONDO:0017827 True malignant glandular tumor of peripheral nerve sheath malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004560 MONDO:0003413 True follicular infundibulum tumor hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004561 MONDO:0003072 True retinal melanoma retinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004561 MONDO:0006325 True retinal melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004562 MONDO:0004658 True breast apocrine carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004563 MONDO:0005571 True physiological polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004564 MONDO:0003240 True thyroid malformation thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004565 MONDO:0005020 True intestinal obstruction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004566 MONDO:0001318 True postgastrectomy syndrome functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004566 MONDO:0005020 True postgastrectomy syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004567 MONDO:0004565 True ileus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004569 MONDO:0006683 True brachial plexus neuropathy from injury brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004570 MONDO:0004565 True intestinal volvulus intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004571 MONDO:0004565 True intestinal impaction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004572 MONDO:0005371 True cyclothymic disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004573 MONDO:0006873 True ariboflavinosis nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004575 MONDO:0006873 True choline deficiency disease nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004577 MONDO:0003085 True corneal ulcer keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004578 MONDO:0004579 True flat retinoschisis retinoschisis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004579 MONDO:0004580 True retinoschisis retinal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004580 MONDO:0005283 True retinal degeneration retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004582 MONDO:0004496 True rheumatic myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal artery occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004584 MONDO:0002312 True maple bark strippers' lung opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004586 MONDO:0005275 True rheumatoid lung disease lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004586 MONDO:0007179 True rheumatoid lung disease autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004587 MONDO:0004588 True hereditary night blindness night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004588 MONDO:0005283 True night blindness retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004591 MONDO:0004592 True impetigo herpetiformis impetigo SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004592 MONDO:0002922 True impetigo pyoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004593 MONDO:0002263 True Bartholin duct cyst female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004594 MONDO:0005279 True puerperal pulmonary embolism pulmonary embolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004596 MONDO:0005009 True cor pulmonale congestive heart failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004598 MONDO:0004596 True acute cor pulmonale cor pulmonale SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004599 MONDO:0002491 True barbiturate abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004600 MONDO:0005059 True monocytic leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004601 MONDO:0004605 True ulcer of lower limbs chronic ulcer of skin SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004604 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic-histiocytic predominance classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004605 MONDO:0005093 True chronic ulcer of skin skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004573 MONDO:0006873 True ariboflavinosis nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004575 MONDO:0006873 True choline deficiency disease nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004577 MONDO:0003085 True corneal ulcer keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004578 MONDO:0004579 True flat retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004579 MONDO:0004580 True retinoschisis retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004580 MONDO:0005283 True retinal degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004582 MONDO:0004496 True rheumatic myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal artery occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004584 MONDO:0002312 True maple bark strippers' lung opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004586 MONDO:0005275 True rheumatoid lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004586 MONDO:0007179 True rheumatoid lung disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004587 MONDO:0004588 True hereditary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004588 MONDO:0005283 True night blindness retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004591 MONDO:0004592 True impetigo herpetiformis impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004592 MONDO:0002922 True impetigo pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004593 MONDO:0002263 True Bartholin duct cyst female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004594 MONDO:0005279 True puerperal pulmonary embolism pulmonary embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004596 MONDO:0005009 True cor pulmonale congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004598 MONDO:0004596 True acute cor pulmonale cor pulmonale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004599 MONDO:0002491 True barbiturate abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004600 MONDO:0005059 True monocytic leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004601 MONDO:0004605 True ulcer of lower limbs chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004604 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic-histiocytic predominance classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004605 MONDO:0005093 True chronic ulcer of skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004607 MONDO:0004608 True vallecula cancer oropharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004608 MONDO:0005517 True oropharynx cancer pharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004608 MONDO:0021364 True oropharynx cancer neoplasm of oropharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004611 MONDO:0004608 True soft palate cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004611 MONDO:0005286 True soft palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004611 MONDO:0005515 True soft palate cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004612 MONDO:0002637 True malignant histiocytosis histiocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004614 MONDO:0004600 True chronic monocytic leukemia monocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004615 MONDO:0005507 True upper gum cancer gingival cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004616 MONDO:0004609 True herpetic whitlow herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004608 MONDO:0005517 True oropharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004608 MONDO:0021364 True oropharynx cancer neoplasm of oropharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004611 MONDO:0004608 True soft palate cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004611 MONDO:0005286 True soft palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004611 MONDO:0005515 True soft palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004612 MONDO:0002637 True malignant histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004614 MONDO:0004600 True chronic monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004615 MONDO:0005507 True upper gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004616 MONDO:0004609 True herpetic whitlow herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004617 MONDO:0003406 True recurrent hypersomnia sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004618 MONDO:0005071 True diplegia of upper limb nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004620 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic depletion classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004621 MONDO:0006834 True upper lip cancer lip cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004622 MONDO:0005020 True chronic intestinal vascular insufficiency intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004624 MONDO:0004611 True uvula cancer soft palate cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004625 MONDO:0004634 True phlebitis vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004630 MONDO:0005485 True substance-induced psychosis psychotic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004631 MONDO:0005515 True tongue cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004631 MONDO:0005627 True tongue cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004631 MONDO:0021240 True tongue cancer tongue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004633 MONDO:0009348 True Hodgkin's lymphoma, mixed cellularity classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004634 MONDO:0005385 True vein disorder vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004635 MONDO:0005806 True postcricoid region cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004636 MONDO:0000371 True lip carcinoma in situ oral cavity carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004636 MONDO:0021333 True lip carcinoma in situ carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004618 MONDO:0005071 True diplegia of upper limb nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004620 MONDO:0009348 True Hodgkin's lymphoma, lymphocytic depletion classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004621 MONDO:0006834 True upper lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004622 MONDO:0005020 True chronic intestinal vascular insufficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004624 MONDO:0004611 True uvula cancer soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004625 MONDO:0004634 True phlebitis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004630 MONDO:0005485 True substance-induced psychosis psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004631 MONDO:0005515 True tongue cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004631 MONDO:0005627 True tongue cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004631 MONDO:0021240 True tongue cancer tongue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004633 MONDO:0009348 True Hodgkin's lymphoma, mixed cellularity classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004634 MONDO:0005385 True vein disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004635 MONDO:0005806 True postcricoid region cancer hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004636 MONDO:0000371 True lip carcinoma in situ oral cavity carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004636 MONDO:0021333 True lip carcinoma in situ carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004637 MONDO:0005806 True aryepiglottic fold cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004640 MONDO:0004966 True alcoholic gastritis gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004641 MONDO:0002656 True skin carcinoma in situ skin carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004641 MONDO:0004647 True skin carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004642 MONDO:0006998 True tonsillar pillar cancer tonsil cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004643 MONDO:0005059 True myeloid leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004645 MONDO:0005515 True cheek mucosa cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004645 MONDO:0005627 True cheek mucosa cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004645 MONDO:0021241 True cheek mucosa cancer buccal mucosa neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004646 MONDO:0004605 True decubitus ulcer chronic ulcer of skin SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004647 MONDO:0004993 True in situ carcinoma carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004647 MONDO:0021074 True in situ carcinoma precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004648 MONDO:0001627 True vascular dementia dementia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004649 MONDO:0004652 True anaerobic pneumonia bacterial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0002095 True malignant carotid body paraganglioma vascular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0005627 True malignant carotid body paraganglioma head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0021053 True malignant carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0021069 True malignant carotid body paraganglioma malignant endocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0021089 True malignant carotid body paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004652 MONDO:0005113 True bacterial pneumonia bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004652 MONDO:0005249 True bacterial pneumonia pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004653 MONDO:0006311 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004653 MONDO:0020077 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004657 MONDO:0004674 True disseminated chorioretinitis chorioretinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004658 MONDO:0004647 True breast carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004658 MONDO:0004989 True breast carcinoma in situ breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004659 MONDO:0004647 True eye carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004660 MONDO:0004647 True lung carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004660 MONDO:0005138 True lung carcinoma in situ lung carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004661 MONDO:0001419 True trachea carcinoma in situ trachea squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004661 MONDO:0004693 True trachea carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004662 MONDO:0004664 True heterophyiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004663 MONDO:0002032 True colon carcinoma in situ colon carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004663 MONDO:0004698 True colon carcinoma in situ intestine carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004664 MONDO:0005135 True helminthiasis parasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004665 MONDO:0009348 True nodular sclerosis classical Hodgkin lymphoma classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004666 MONDO:0004664 True metagonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004667 MONDO:0021242 True sublingual gland cancer sublingual gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004667 MONDO:0044743 True sublingual gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004668 MONDO:0004664 True fascioliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004669 MONDO:0005515 True salivary gland cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004669 MONDO:0005627 True salivary gland cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004669 MONDO:0021357 True salivary gland cancer tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004670 MONDO:0007179 True lupus erythematosus autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004671 MONDO:0004693 True penis carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004671 MONDO:0018352 True penis carcinoma in situ squamous cell carcinoma of penis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004672 MONDO:0004664 True fasciolopsiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004673 MONDO:0006834 True lower lip cancer lip cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004675 MONDO:0009637 True mitochondrial encephalomyopathy inborn mitochondrial myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004677 MONDO:0024268 True tinea nigra superficial mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004679 MONDO:0001433 True leukoplakia of vagina vaginal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004680 MONDO:0000602 True primary thrombocytopenia autoimmune disorder of blood SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004681 MONDO:0000592 True learning disability specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004682 MONDO:0005515 True retromolar area cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004684 MONDO:0016037 True plantar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004685 MONDO:0000621 True Waldeyer's ring cancer immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004685 MONDO:0004608 True Waldeyer's ring cancer oropharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004689 MONDO:0019052 True inborn metal metabolism disorder inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004690 MONDO:0006998 True tonsillar fossa cancer tonsil cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004691 MONDO:0000426 True autosomal dominant polycystic kidney disease autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004691 MONDO:0020642 True autosomal dominant polycystic kidney disease polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004693 MONDO:0004647 True squamous carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004693 MONDO:0005096 True squamous carcinoma in situ squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004640 MONDO:0004966 True alcoholic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004641 MONDO:0002656 True skin carcinoma in situ skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004641 MONDO:0004647 True skin carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004642 MONDO:0006998 True tonsillar pillar cancer tonsil cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004643 MONDO:0005059 True myeloid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004645 MONDO:0005515 True cheek mucosa cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004645 MONDO:0005627 True cheek mucosa cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004645 MONDO:0021241 True cheek mucosa cancer buccal mucosa neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004646 MONDO:0004605 True decubitus ulcer chronic ulcer of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004647 MONDO:0004993 True in situ carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004647 MONDO:0021074 True in situ carcinoma precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004648 MONDO:0001627 True vascular dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004649 MONDO:0004652 True anaerobic pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004650 MONDO:0002095 True malignant carotid body paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004650 MONDO:0005627 True malignant carotid body paraganglioma head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004650 MONDO:0021053 True malignant carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004650 MONDO:0021069 True malignant carotid body paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004650 MONDO:0021089 True malignant carotid body paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004652 MONDO:0005113 True bacterial pneumonia bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004652 MONDO:0005249 True bacterial pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004653 MONDO:0006311 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004653 MONDO:0020077 True atypical chronic myeloid leukemia, BCR-ABL1 negative myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004657 MONDO:0004674 True disseminated chorioretinitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004658 MONDO:0004647 True breast carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004658 MONDO:0004989 True breast carcinoma in situ breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004659 MONDO:0004647 True eye carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004660 MONDO:0004647 True lung carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004660 MONDO:0005138 True lung carcinoma in situ lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004661 MONDO:0001419 True trachea carcinoma in situ trachea squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004661 MONDO:0004693 True trachea carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004662 MONDO:0004664 True heterophyiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004663 MONDO:0002032 True colon carcinoma in situ colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004663 MONDO:0004698 True colon carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004664 MONDO:0005135 True helminthiasis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004665 MONDO:0009348 True nodular sclerosis classical Hodgkin lymphoma classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004666 MONDO:0004664 True metagonimiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004667 MONDO:0021242 True sublingual gland cancer sublingual gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004667 MONDO:0044743 True sublingual gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004668 MONDO:0004664 True fascioliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004669 MONDO:0005515 True salivary gland cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004669 MONDO:0005627 True salivary gland cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004669 MONDO:0021357 True salivary gland cancer tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004670 MONDO:0007179 True lupus erythematosus autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004671 MONDO:0004693 True penis carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004671 MONDO:0018352 True penis carcinoma in situ squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004672 MONDO:0004664 True fasciolopsiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004673 MONDO:0006834 True lower lip cancer lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004675 MONDO:0009637 True mitochondrial encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004677 MONDO:0024268 True tinea nigra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004679 MONDO:0001433 True leukoplakia of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004680 MONDO:0000602 True primary thrombocytopenia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004681 MONDO:0000592 True learning disability specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004682 MONDO:0005515 True retromolar area cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004684 MONDO:0016037 True plantar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004685 MONDO:0000621 True Waldeyer's ring cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004685 MONDO:0004608 True Waldeyer's ring cancer oropharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004689 MONDO:0019052 True inborn metal metabolism disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004690 MONDO:0006998 True tonsillar fossa cancer tonsil cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004691 MONDO:0000426 True autosomal dominant polycystic kidney disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004691 MONDO:0020642 True autosomal dominant polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004693 MONDO:0004647 True squamous carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004693 MONDO:0005096 True squamous carcinoma in situ squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004694 MONDO:0005154 True hepatopulmonary syndrome liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004695 MONDO:0002691 True liver lymphoma liver cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004695 MONDO:0004699 True liver lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004696 MONDO:0002358 True larynx carcinoma in situ laryngeal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004696 MONDO:0004647 True larynx carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004697 MONDO:0003749 True esophageal leukoplakia esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004698 MONDO:0004647 True intestine carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004699 MONDO:0002516 True gastrointestinal lymphoma digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004699 MONDO:0005062 True gastrointestinal lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004700 MONDO:0021243 True parotid gland cancer parotid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004700 MONDO:0044743 True parotid gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004701 MONDO:0002654 True uterine polyp uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004701 MONDO:0005079 True uterine polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004702 MONDO:0002256 True uterine cervix leukoplakia cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004703 MONDO:0003930 True bladder carcinoma in situ non-invasive bladder urothelial carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004703 MONDO:0004647 True bladder carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004703 MONDO:0006111 True bladder carcinoma in situ bladder flat intraepithelial lesion UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004705 MONDO:0016238 True liver solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004705 MONDO:0024477 True liver solitary fibrous tumor liver and intrahepatic bile duct neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004706 MONDO:0002137 True discoid lupus erythematosus of eyelid noninfectious dermatoses of eyelid SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004707 MONDO:0007108 True anal canal carcinoma in situ anal canal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004708 MONDO:0004647 True esophagus carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004708 MONDO:0019086 True esophagus carcinoma in situ carcinoma of esophagus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004709 MONDO:0021374 True occipital lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004710 MONDO:0004647 True uterus carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004695 MONDO:0002691 True liver lymphoma liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004695 MONDO:0004699 True liver lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004696 MONDO:0002358 True larynx carcinoma in situ laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004696 MONDO:0004647 True larynx carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004697 MONDO:0003749 True esophageal leukoplakia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004698 MONDO:0004647 True intestine carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004699 MONDO:0002516 True gastrointestinal lymphoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004699 MONDO:0005062 True gastrointestinal lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004700 MONDO:0021243 True parotid gland cancer parotid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004700 MONDO:0044743 True parotid gland cancer major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004701 MONDO:0002654 True uterine polyp uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004701 MONDO:0005079 True uterine polyp polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004702 MONDO:0002256 True uterine cervix leukoplakia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004703 MONDO:0003930 True bladder carcinoma in situ non-invasive bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004703 MONDO:0004647 True bladder carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004703 MONDO:0006111 True bladder carcinoma in situ bladder flat intraepithelial lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004705 MONDO:0016238 True liver solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004705 MONDO:0024477 True liver solitary fibrous tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004706 MONDO:0002137 True discoid lupus erythematosus of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004707 MONDO:0007108 True anal canal carcinoma in situ anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004708 MONDO:0004647 True esophagus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004708 MONDO:0019086 True esophagus carcinoma in situ carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004709 MONDO:0021374 True occipital lobe neoplasm neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004710 MONDO:0004647 True uterus carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004712 MONDO:0004609 True herpes simplex dermatitis herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004713 MONDO:0005507 True lower gum cancer gingival cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004714 MONDO:0003939 True atrophic muscular disease muscle tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004714 MONDO:0019056 True atrophic muscular disease neuromuscular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004715 MONDO:0004647 True liver carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004716 MONDO:0004647 True stomach carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004716 MONDO:0004950 True stomach carcinoma in situ gastric carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004717 MONDO:0002405 True peliosis hepatis hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004718 MONDO:0002137 True xeroderma of eyelid noninfectious dermatoses of eyelid SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004719 MONDO:0005286 True hard palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004719 MONDO:0005515 True hard palate cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004719 MONDO:0005627 True hard palate cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004720 MONDO:0004651 True variola minor infection smallpox SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004723 MONDO:0000385 True liver leiomyoma benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004723 MONDO:0000627 True liver leiomyoma benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004723 MONDO:0001572 True liver leiomyoma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004723 MONDO:0024477 True liver leiomyoma liver and intrahepatic bile duct neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004724 MONDO:0006284 True submandibular gland cancer major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004724 MONDO:0021244 True submandibular gland cancer submandibular gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004725 MONDO:0044937 True rectum carcinoma in situ rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004726 MONDO:0015798 True liver inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004726 MONDO:0024477 True liver inflammatory myofibroblastic tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004727 MONDO:0005515 True vestibule of mouth cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004728 MONDO:0005266 True diabetic macular edema diabetic retinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004729 MONDO:0003749 True dyskinesia of esophagus esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004730 MONDO:0002182 True speech disorder communication disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004731 MONDO:0005296 True central sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004732 MONDO:0004647 True kidney carcinoma in situ in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004733 MONDO:0005806 True pyriform sinus cancer hypopharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004736 MONDO:0019052 True inborn disorder of amino acid metabolism inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004737 MONDO:0004736 True homocystinuria inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004739 MONDO:0004736 True urea cycle disorder inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004739 MONDO:0019189 True urea cycle disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004744 MONDO:0005041 True borderline glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004745 MONDO:0005294 True priapism peripheral vascular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004746 MONDO:0005336 True myopathy of extraocular muscle myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004747 MONDO:0000358 True cleft lip orofacial cleft SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004748 MONDO:0006858 True lip disorder mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004749 MONDO:0001340 True myocardium cancer heart cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004749 MONDO:0021380 True myocardium cancer neoplasm of myocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004750 MONDO:0002182 True language disorder communication disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004752 MONDO:0016755 True neurofibroma of the heart neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004753 MONDO:0003432 True mechanical strabismus strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004754 MONDO:0001593 True rectal prolapse rectal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004755 MONDO:0004664 True monieziasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004756 MONDO:0002232 True nasal cavity neoplasm nasal cavity disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004756 MONDO:0005586 True nasal cavity neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004757 MONDO:0005756 True chronic ethmoidal sinusitis ethmoid sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004758 MONDO:0005328 True scotoma eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004759 MONDO:0000596 True zoophilia paraphilic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004760 MONDO:0004184 True urethral false passage urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004762 MONDO:0002654 True Taylor syndrome uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004763 MONDO:0005269 True carotid artery dissection carotid artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004764 MONDO:0002183 True fibular collateral ligament bursitis enthesopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004765 MONDO:0004979 True intrinsic asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004766 MONDO:0004979 True status asthmaticus asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004768 MONDO:0003085 True keratoconjunctivitis keratitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004769 MONDO:0001849 True orbital plasma cell granuloma chronic orbital inflammation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004772 MONDO:0004773 True glaucomatocyclitic crisis iridocyclitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004773 MONDO:0006651 True iridocyclitis anterior uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004775 MONDO:0004773 True lens-induced iridocyclitis iridocyclitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004777 MONDO:0002647 True acute laryngitis laryngitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004778 MONDO:0004779 True epididymo-orchitis epididymitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004779 MONDO:0003150 True epididymitis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004780 MONDO:0004781 True strictly posterior acute myocardial infarction acute myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004781 MONDO:0005068 True acute myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004782 MONDO:0005240 True diabetes insipidus kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004784 MONDO:0000771 True allergic asthma allergic respiratory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004784 MONDO:0004979 True allergic asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004785 MONDO:0003382 True blepharitis eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004786 MONDO:0004789 True chronic cholangitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004787 MONDO:0000644 True cervical mullerian papilloma cervical benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004787 MONDO:0002363 True cervical mullerian papilloma papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004788 MONDO:0000644 True cervix squamous papilloma cervical benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004788 MONDO:0001825 True cervix squamous papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004790 MONDO:0005154 True fatty liver disease liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004794 MONDO:0004768 True exposure keratitis keratoconjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004795 MONDO:0002776 True otitis externa external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004797 MONDO:0002121 True mononeuritis of lower limb mononeuritis simplex SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004799 MONDO:0004785 True ulcerative blepharitis blepharitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004800 MONDO:0004804 True chronic dacryoadenitis dacryoadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004801 MONDO:0002467 True unilateral hypoactive labyrinth inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004802 MONDO:0015691 True pulmonary eosinophilia hypereosinophilic syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004803 MONDO:0015691 True disseminated eosinophilic collagen disease hypereosinophilic syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004805 MONDO:0005570 True leukocyte disorder hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004806 MONDO:0005749 True chronic eosinophilic pneumonia eosinophilic pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004808 MONDO:0002657 True benign mammary dysplasia breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004810 MONDO:0005756 True acute ethmoiditis ethmoid sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004811 MONDO:0002314 True simple chronic conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004812 MONDO:0004804 True acute dacryoadenitis dacryoadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004813 MONDO:0002076 True tuberculous pneumothorax pneumothorax SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004815 MONDO:0009693 True osteosclerotic plasma cell myeloma plasma cell myeloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004816 MONDO:0004111 True refractory plasma cell neoplasm refractory hematologic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004816 MONDO:0004959 True refractory plasma cell neoplasm plasma cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004817 MONDO:0009693 True non-secretory plasma cell myeloma plasma cell myeloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004820 MONDO:0002546 True peripheral nerve schwannoma schwannoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004821 MONDO:0004867 True nasopharyngeal disorder upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004822 MONDO:0001358 True bronchiectasis bronchial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004824 MONDO:0002026 True neonatal candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004826 MONDO:0004184 True urethral calculus urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004826 MONDO:0004828 True urethral calculus lower urinary tract calculus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004827 MONDO:0001825 True esophagus squamous cell papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004827 MONDO:0021459 True esophagus squamous cell papilloma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004828 MONDO:0024647 True lower urinary tract calculus urolithiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004829 MONDO:0005092 True Krukenberg carcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004829 MONDO:0024879 True Krukenberg carcinoma metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004830 MONDO:0002081 True fasciitis musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004830 MONDO:0003900 True fasciitis connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004831 MONDO:0004830 True proliferative fasciitis fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004832 MONDO:0001572 True esophagus leiomyoma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004832 MONDO:0021459 True esophagus leiomyoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004833 MONDO:0004830 True plantar fasciitis fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004834 MONDO:0004830 True ischemic fasciitis fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004835 MONDO:0004830 True necrotizing fasciitis fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004836 MONDO:0004187 True intravascular fasciitis nodular fasciitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004837 MONDO:0016755 True neurofibroma of the esophagus neurofibroma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004837 MONDO:0021355 True neurofibroma of the esophagus neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004838 MONDO:0005240 True orthostatic proteinuria kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004840 MONDO:0002473 True non-congenital cyst of kidney cystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004841 MONDO:0005240 True kidney hypertrophy kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004843 MONDO:0001584 True pathologic nystagmus ocular motility disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004845 MONDO:0004842 True aphthous stomatitis stomatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004846 MONDO:0005917 True placental abruption placenta disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004847 MONDO:0005129 True senile cataract cataract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004848 MONDO:0004842 True ulcerative stomatitis stomatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004849 MONDO:0005002 True pulmonary emphysema chronic obstructive pulmonary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004851 MONDO:0002815 True toxic myocarditis acute myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004853 MONDO:0016047 True gonococcal endophthalmia endophthalmitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004855 MONDO:0004857 True tenosynovitis tendinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004855 MONDO:0006816 True tenosynovitis arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004856 MONDO:0003799 True rosacea conjunctivitis conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004857 MONDO:0021167 True tendinitis myositis disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004713 MONDO:0005507 True lower gum cancer gingival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004714 MONDO:0003939 True atrophic muscular disease muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004714 MONDO:0019056 True atrophic muscular disease neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004715 MONDO:0004647 True liver carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004716 MONDO:0004647 True stomach carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004716 MONDO:0004950 True stomach carcinoma in situ gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004717 MONDO:0002405 True peliosis hepatis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004718 MONDO:0002137 True xeroderma of eyelid noninfectious dermatoses of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004719 MONDO:0005286 True hard palate cancer palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004719 MONDO:0005515 True hard palate cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004719 MONDO:0005627 True hard palate cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004720 MONDO:0004651 True variola minor infection smallpox UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004723 MONDO:0000385 True liver leiomyoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004723 MONDO:0000627 True liver leiomyoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004723 MONDO:0001572 True liver leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004723 MONDO:0024477 True liver leiomyoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004724 MONDO:0006284 True submandibular gland cancer major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004724 MONDO:0021244 True submandibular gland cancer submandibular gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004725 MONDO:0044937 True rectum carcinoma in situ rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004726 MONDO:0015798 True liver inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004726 MONDO:0024477 True liver inflammatory myofibroblastic tumor liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004727 MONDO:0005515 True vestibule of mouth cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004728 MONDO:0005266 True diabetic macular edema diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004729 MONDO:0003749 True dyskinesia of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004730 MONDO:0002182 True speech disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004731 MONDO:0005296 True central sleep apnea syndrome sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004732 MONDO:0004647 True kidney carcinoma in situ in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004733 MONDO:0005806 True pyriform sinus cancer hypopharynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004736 MONDO:0019052 True inborn disorder of amino acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004737 MONDO:0004736 True homocystinuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004739 MONDO:0004736 True urea cycle disorder inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004739 MONDO:0019189 True urea cycle disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004744 MONDO:0005041 True borderline glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004745 MONDO:0005294 True priapism peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004746 MONDO:0005336 True myopathy of extraocular muscle myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004747 MONDO:0000358 True cleft lip orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004748 MONDO:0006858 True lip disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004749 MONDO:0001340 True myocardium cancer heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004749 MONDO:0021380 True myocardium cancer neoplasm of myocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004750 MONDO:0002182 True language disorder communication disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004752 MONDO:0016755 True neurofibroma of the heart neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004753 MONDO:0003432 True mechanical strabismus strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004754 MONDO:0001593 True rectal prolapse rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004755 MONDO:0004664 True monieziasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004756 MONDO:0002232 True nasal cavity neoplasm nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004756 MONDO:0005586 True nasal cavity neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004757 MONDO:0005756 True chronic ethmoidal sinusitis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004758 MONDO:0005328 True scotoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004759 MONDO:0000596 True zoophilia paraphilic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004760 MONDO:0004184 True urethral false passage urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004762 MONDO:0002654 True Taylor syndrome uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004763 MONDO:0005269 True carotid artery dissection carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004764 MONDO:0002183 True fibular collateral ligament bursitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004765 MONDO:0004979 True intrinsic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004766 MONDO:0004979 True status asthmaticus asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004768 MONDO:0003085 True keratoconjunctivitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004769 MONDO:0001849 True orbital plasma cell granuloma chronic orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004772 MONDO:0004773 True glaucomatocyclitic crisis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004773 MONDO:0006651 True iridocyclitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004775 MONDO:0004773 True lens-induced iridocyclitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004777 MONDO:0002647 True acute laryngitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004778 MONDO:0004779 True epididymo-orchitis epididymitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004779 MONDO:0003150 True epididymitis male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004780 MONDO:0004781 True strictly posterior acute myocardial infarction acute myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004781 MONDO:0005068 True acute myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004782 MONDO:0005240 True diabetes insipidus kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004784 MONDO:0000771 True allergic asthma allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004784 MONDO:0004979 True allergic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004785 MONDO:0003382 True blepharitis eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004786 MONDO:0004789 True chronic cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004787 MONDO:0000644 True cervical mullerian papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004787 MONDO:0002363 True cervical mullerian papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004788 MONDO:0000644 True cervix squamous papilloma cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004788 MONDO:0001825 True cervix squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004790 MONDO:0005154 True fatty liver disease liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004794 MONDO:0004768 True exposure keratitis keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004795 MONDO:0002776 True otitis externa external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004797 MONDO:0002121 True mononeuritis of lower limb mononeuritis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004799 MONDO:0004785 True ulcerative blepharitis blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004800 MONDO:0004804 True chronic dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004801 MONDO:0002467 True unilateral hypoactive labyrinth inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004802 MONDO:0015691 True pulmonary eosinophilia hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004803 MONDO:0015691 True disseminated eosinophilic collagen disease hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004805 MONDO:0005570 True leukocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004806 MONDO:0005749 True chronic eosinophilic pneumonia eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004808 MONDO:0002657 True benign mammary dysplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004810 MONDO:0005756 True acute ethmoiditis ethmoid sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004811 MONDO:0002314 True simple chronic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004812 MONDO:0004804 True acute dacryoadenitis dacryoadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004813 MONDO:0002076 True tuberculous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004815 MONDO:0009693 True osteosclerotic plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004816 MONDO:0004111 True refractory plasma cell neoplasm refractory hematologic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004816 MONDO:0004959 True refractory plasma cell neoplasm plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004817 MONDO:0009693 True non-secretory plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004820 MONDO:0002546 True peripheral nerve schwannoma schwannoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004821 MONDO:0004867 True nasopharyngeal disorder upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004822 MONDO:0001358 True bronchiectasis bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004824 MONDO:0002026 True neonatal candidiasis candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004826 MONDO:0004184 True urethral calculus urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004826 MONDO:0004828 True urethral calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004827 MONDO:0001825 True esophagus squamous cell papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004827 MONDO:0021459 True esophagus squamous cell papilloma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004828 MONDO:0024647 True lower urinary tract calculus urolithiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004829 MONDO:0005092 True Krukenberg carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004829 MONDO:0024879 True Krukenberg carcinoma metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004830 MONDO:0002081 True fasciitis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004830 MONDO:0003900 True fasciitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004831 MONDO:0004830 True proliferative fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004832 MONDO:0001572 True esophagus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004832 MONDO:0021459 True esophagus leiomyoma benign neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004833 MONDO:0004830 True plantar fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004834 MONDO:0004830 True ischemic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004835 MONDO:0004830 True necrotizing fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004836 MONDO:0004187 True intravascular fasciitis nodular fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004837 MONDO:0016755 True neurofibroma of the esophagus neurofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004837 MONDO:0021355 True neurofibroma of the esophagus neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004838 MONDO:0005240 True orthostatic proteinuria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004840 MONDO:0002473 True non-congenital cyst of kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004841 MONDO:0005240 True kidney hypertrophy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004843 MONDO:0001584 True pathologic nystagmus ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004845 MONDO:0004842 True aphthous stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004846 MONDO:0005917 True placental abruption placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004847 MONDO:0005129 True senile cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004848 MONDO:0004842 True ulcerative stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004849 MONDO:0005002 True pulmonary emphysema chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004851 MONDO:0002815 True toxic myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004853 MONDO:0016047 True gonococcal endophthalmia endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004855 MONDO:0004857 True tenosynovitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004855 MONDO:0006816 True tenosynovitis arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004856 MONDO:0003799 True rosacea conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004857 MONDO:0021167 True tendinitis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004858 MONDO:0005281 True occlusion of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004859 MONDO:0005281 True hydrops of gallbladder gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004861 MONDO:0005328 True ophthalmia nodosa eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004862 MONDO:0004860 True vitreous abscess vitreous disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004862 MONDO:0004863 True vitreous abscess purulent endophthalmitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004863 MONDO:0016047 True purulent endophthalmitis endophthalmitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004864 MONDO:0004865 True acute allergic mucoid otitis media blue drum syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004865 MONDO:0002738 True blue drum syndrome acute transudative otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004861 MONDO:0005328 True ophthalmia nodosa eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004862 MONDO:0004860 True vitreous abscess vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004862 MONDO:0004863 True vitreous abscess purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004863 MONDO:0016047 True purulent endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004864 MONDO:0004865 True acute allergic mucoid otitis media blue drum syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004865 MONDO:0002738 True blue drum syndrome acute transudative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004866 MONDO:0003276 True eustachian tube disorder middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004867 MONDO:0005087 True upper respiratory tract disorder respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004868 MONDO:0002515 True biliary tract disorder hepatobiliary disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004869 MONDO:0008638 True pelvic varices varicose disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004871 MONDO:0004872 True perianal hematoma hemorrhoid SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004872 MONDO:0004869 True hemorrhoid pelvic varices SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004873 MONDO:0004872 True internal hemorrhoid hemorrhoid SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004874 MONDO:0006816 True ganglion or cyst of synovium/tendon/bursa arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004875 MONDO:0002155 True xanthogranulomatous cholecystitis cholecystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004876 MONDO:0005068 True myocardial stunning myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004878 MONDO:0004379 True female breast upper-outer quadrant cancer female breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004879 MONDO:0004885 True senile atrophy of choroid choroidal sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004880 MONDO:0005020 True bowel dysfunction intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004881 MONDO:0021167 True myositis fibrosa myositis disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004882 MONDO:0004885 True angioid streaks of choroid choroidal sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004882 MONDO:0011782 True angioid streaks of choroid angioid streaks SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004883 MONDO:0004885 True hereditary choroidal atrophy choroidal sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004884 MONDO:0005328 True eye degenerative disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004885 MONDO:0001898 True choroidal sclerosis optic choroid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004885 MONDO:0004884 True choroidal sclerosis eye degenerative disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004886 MONDO:0004885 True diffuse secondary choroid atrophy choroidal sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004888 MONDO:0004883 True partial circumpapillary choroid dystrophy hereditary choroidal atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004891 MONDO:0004892 True hyperopia refractive error SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004892 MONDO:0005328 True refractive error eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004893 MONDO:0003432 True hypertropia strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004894 MONDO:0003432 True cyclotropia strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004895 MONDO:0004896 True accommodative esotropia esotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004896 MONDO:0003432 True esotropia strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004897 MONDO:0003432 True hypotropia strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004898 MONDO:0004883 True total circumpapillary dystrophy of choroid hereditary choroidal atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004899 MONDO:0003432 True monofixation syndrome strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004900 MONDO:0002643 True peripheral vertigo vestibular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004901 MONDO:0005395 True lingual-facial-buccal dyskinesia movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004902 MONDO:0003900 True interstitial keratitis connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004903 MONDO:0003085 True deep keratitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004904 MONDO:0002175 True toxic maculopathy degeneration of macula and posterior pole SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004907 MONDO:0019278 True alopecia hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004909 MONDO:0004184 True urethral gland abscess urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004910 MONDO:0003767 True mitral valve prolapse mitral valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004911 MONDO:0004497 True cardiovascular syphilis tertiary syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004913 MONDO:0004896 True alternating esotropia esotropia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004914 MONDO:0002254 True celiac artery stenosis from compression by median arcuate ligament of diaphragm syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004917 MONDO:0005800 True internal hordeolum hordeolum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004918 MONDO:0004577 True central corneal ulcer corneal ulcer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004919 MONDO:0004920 True infected hydrocele hydrocele SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004920 MONDO:0003150 True hydrocele male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004922 MONDO:0000592 True developmental coordination disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004923 MONDO:0001854 True chronic inflammation of lacrimal passage lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004924 MONDO:0004923 True chronic canaliculitis chronic inflammation of lacrimal passage SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004925 MONDO:0004926 True chronic dacryocystitis dacryocystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004927 MONDO:0004923 True dacryocystocele chronic inflammation of lacrimal passage SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004928 MONDO:0005833 True lymph node disorder lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004929 MONDO:0004751 True constant exophthalmos disease of orbital part of eye adnexa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004930 MONDO:0005041 True steroid-induced glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004931 MONDO:0004930 True residual stage corticosteroid-induced glaucoma steroid-induced glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004932 MONDO:0004967 True null-cell leukemia acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004933 MONDO:0005453 True hypoplastic left heart syndrome congenital heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004933 MONDO:0019820 True hypoplastic left heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004934 MONDO:0003900 True periostitis connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004936 MONDO:0002654 True uterine inversion uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004937 MONDO:0003916 True hypervitaminosis D overnutrition SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004938 MONDO:0002494 True substance dependence substance-related disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004939 MONDO:0005303 True hallucinogen dependence drug dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004867 MONDO:0005087 True upper respiratory tract disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004868 MONDO:0002515 True biliary tract disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004869 MONDO:0008638 True pelvic varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004871 MONDO:0004872 True perianal hematoma hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004872 MONDO:0004869 True hemorrhoid pelvic varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004873 MONDO:0004872 True internal hemorrhoid hemorrhoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004874 MONDO:0006816 True ganglion or cyst of synovium/tendon/bursa arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004875 MONDO:0002155 True xanthogranulomatous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004876 MONDO:0005068 True myocardial stunning myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004878 MONDO:0004379 True female breast upper-outer quadrant cancer female breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004879 MONDO:0004885 True senile atrophy of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004880 MONDO:0005020 True bowel dysfunction intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004881 MONDO:0021167 True myositis fibrosa myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004882 MONDO:0004885 True angioid streaks of choroid choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004882 MONDO:0011782 True angioid streaks of choroid angioid streaks UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004883 MONDO:0004885 True hereditary choroidal atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004884 MONDO:0005328 True eye degenerative disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004885 MONDO:0001898 True choroidal sclerosis optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004885 MONDO:0004884 True choroidal sclerosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004886 MONDO:0004885 True diffuse secondary choroid atrophy choroidal sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004888 MONDO:0004883 True partial circumpapillary choroid dystrophy hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004891 MONDO:0004892 True hyperopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004892 MONDO:0005328 True refractive error eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004893 MONDO:0003432 True hypertropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004894 MONDO:0003432 True cyclotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004895 MONDO:0004896 True accommodative esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004896 MONDO:0003432 True esotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004897 MONDO:0003432 True hypotropia strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004898 MONDO:0004883 True total circumpapillary dystrophy of choroid hereditary choroidal atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004899 MONDO:0003432 True monofixation syndrome strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004900 MONDO:0002643 True peripheral vertigo vestibular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004901 MONDO:0005395 True lingual-facial-buccal dyskinesia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004902 MONDO:0003900 True interstitial keratitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004903 MONDO:0003085 True deep keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004904 MONDO:0002175 True toxic maculopathy degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004907 MONDO:0019278 True alopecia hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004909 MONDO:0004184 True urethral gland abscess urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004910 MONDO:0003767 True mitral valve prolapse mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004911 MONDO:0004497 True cardiovascular syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004913 MONDO:0004896 True alternating esotropia esotropia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004914 MONDO:0002254 True celiac artery stenosis from compression by median arcuate ligament of diaphragm syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004917 MONDO:0005800 True internal hordeolum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004918 MONDO:0004577 True central corneal ulcer corneal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004919 MONDO:0004920 True infected hydrocele hydrocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004920 MONDO:0003150 True hydrocele male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004922 MONDO:0000592 True developmental coordination disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004923 MONDO:0001854 True chronic inflammation of lacrimal passage lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004924 MONDO:0004923 True chronic canaliculitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004925 MONDO:0004926 True chronic dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004927 MONDO:0004923 True dacryocystocele chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004928 MONDO:0005833 True lymph node disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004929 MONDO:0004751 True constant exophthalmos disease of orbital part of eye adnexa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004930 MONDO:0005041 True steroid-induced glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004931 MONDO:0004930 True residual stage corticosteroid-induced glaucoma steroid-induced glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004932 MONDO:0004967 True null-cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004933 MONDO:0005453 True hypoplastic left heart syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004933 MONDO:0019820 True hypoplastic left heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004934 MONDO:0003900 True periostitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004936 MONDO:0002654 True uterine inversion uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004937 MONDO:0003916 True hypervitaminosis D overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004938 MONDO:0002494 True substance dependence substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004939 MONDO:0005303 True hallucinogen dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004940 MONDO:0000922 True acute female pelvic peritonitis pelvic inflammatory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004941 MONDO:0015691 True eosinophilia-myalgia syndrome hypereosinophilic syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004942 MONDO:0002889 True orbit lymphoma orbital cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004943 MONDO:0002889 True orbit sarcoma orbital cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004943 MONDO:0005089 True orbit sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004944 MONDO:0004497 True neurosyphilis tertiary syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004946 MONDO:0002908 True hypoglycemia glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004947 MONDO:0004967 True B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004948 MONDO:0001014 True B-cell chronic lymphocytic leukemia chronic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004948 MONDO:0004949 True B-cell chronic lymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004948 MONDO:0017594 True B-cell chronic lymphocytic leukemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004949 MONDO:0004095 True neoplasm of mature B-cells B-cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004950 MONDO:0001056 True gastric carcinoma gastric cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004950 MONDO:0006181 True gastric carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004952 MONDO:0005062 True Hodgkins lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004952 MONDO:0017343 True Hodgkins lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004953 MONDO:0005590 True invasive ductal breast carcinoma breast ductal adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004953 MONDO:0006256 True invasive ductal breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004956 MONDO:0005159 True metastatic prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004957 MONDO:0004970 True mucinous adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004958 MONDO:0044710 True oral cavity squamous cell carcinoma lip and oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004958 MONDO:0044925 True oral cavity squamous cell carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004959 MONDO:0004949 True plasma cell neoplasm neoplasm of mature B-cells SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004963 MONDO:0004967 True T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004964 MONDO:0005062 True peripheral T-cell lymphoma, not otherwise specified lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004964 MONDO:0005169 True peripheral T-cell lymphoma, not otherwise specified neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004965 MONDO:0004970 True acinar cell carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004966 MONDO:0004298 True gastritis stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0003538 True acute lymphoblastic leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0005402 True acute lymphoblastic leukemia lymphoid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0010643 True acute lymphoblastic leukemia acute leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004967 MONDO:0018908 True acute lymphoblastic leukemia non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004970 MONDO:0004993 True adenocarcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004970 MONDO:0024276 True adenocarcinoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004972 MONDO:0005626 True adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004973 MONDO:0006074 True adenosquamous lung carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004974 MONDO:0021072 True adrenal gland pheochromocytoma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004974 MONDO:0021237 True adrenal gland pheochromocytoma adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004975 MONDO:0005574 True Alzheimer disease tauopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004976 MONDO:0020128 True amyotrophic lateral sclerosis motor neuron disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004977 MONDO:0000430 True angioimmunoblastic T-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004979 MONDO:0001358 True asthma bronchial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004980 MONDO:0002406 True atopic eczema dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004980 MONDO:0005271 True atopic eczema allergic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004982 MONDO:0002356 True pancreatitis pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004983 MONDO:0005372 True spermatogenic failure male infertility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004985 MONDO:0005371 True bipolar disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0004986 MONDO:0001187 True urinary bladder carcinoma urinary bladder cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004986 MONDO:0004993 True urinary bladder carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004987 MONDO:0006026 True urinary bladder neoplasm urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004987 MONDO:0021066 True urinary bladder neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004988 MONDO:0004970 True breast adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004988 MONDO:0004989 True breast adenocarcinoma breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004989 MONDO:0004993 True breast carcinoma carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004989 MONDO:0007254 True breast carcinoma breast cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004991 MONDO:0005061 True minimally invasive lung adenocarcinoma lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004992 MONDO:0005070 True cancer neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004993 MONDO:0004992 True carcinoma cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004993 MONDO:0005626 True carcinoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004996 MONDO:0018874 True childhood acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004997 MONDO:0000631 True chondroblastoma bone benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004997 MONDO:0024470 True chondroblastoma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005002 MONDO:0002267 True chronic obstructive pulmonary disease obstructive lung disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005005 MONDO:0005004 True clear cell renal carcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005005 MONDO:0005549 True clear cell renal carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005006 MONDO:0002930 True clear cell sarcoma of kidney kidney sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005007 MONDO:0002271 True colon mucinous adenocarcinoma colon adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005007 MONDO:0004957 True colon mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005008 MONDO:0004970 True colorectal adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005008 MONDO:0024331 True colorectal adenocarcinoma colorectal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005010 MONDO:0000473 True coronary artery disorder arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005011 MONDO:0005265 True Crohn disease inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005012 MONDO:0002898 True cutaneous melanoma skin cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005012 MONDO:0005105 True cutaneous melanoma melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005012 MONDO:0021583 True cutaneous melanoma melanocytic skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005013 MONDO:0021054 True dedifferentiated chondrosarcoma bone sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005015 MONDO:0002908 True diabetes mellitus glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005017 MONDO:0005036 True diffuse gastric adenocarcinoma gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005017 MONDO:0021652 True diffuse gastric adenocarcinoma diffuse type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005019 MONDO:0005100 True diffuse scleroderma systemic sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005020 MONDO:0004335 True intestinal disorder digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005021 MONDO:0000591 True dilated cardiomyopathy intrinsic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005023 MONDO:0003218 True ductal breast carcinoma in situ adenocarcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005023 MONDO:0004007 True ductal breast carcinoma in situ breast intraductal proliferative lesion UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005023 MONDO:0004658 True ductal breast carcinoma in situ breast carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005023 MONDO:0005590 True ductal breast carcinoma in situ breast ductal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005025 MONDO:0000470 True endocarditis endocardium disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005026 MONDO:0004970 True endometrioid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005027 MONDO:0005560 True epilepsy brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005028 MONDO:0004970 True esophageal adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005028 MONDO:0019086 True esophageal adenocarcinoma carcinoma of esophagus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005029 MONDO:0020076 True essential thrombocythemia myeloproliferative neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005031 MONDO:0006209 True fibromatosis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005032 MONDO:0004972 True follicular thyroid adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005032 MONDO:0006107 True follicular thyroid adenoma benign thyroid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005032 MONDO:0036976 True follicular thyroid adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005033 MONDO:0002366 True ganglioneuroma autonomic nervous system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005033 MONDO:0016729 True ganglioneuroma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005034 MONDO:0015447 True thyroid gland follicular carcinoma differentiated thyroid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005034 MONDO:0024622 True thyroid gland follicular carcinoma thyroid gland adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005035 MONDO:0006316 True ganglioneuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005036 MONDO:0004950 True gastric adenocarcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005036 MONDO:0004970 True gastric adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005037 MONDO:0005036 True gastric intestinal type adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005037 MONDO:0006254 True gastric intestinal type adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005040 MONDO:0005070 True germ cell tumor neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005041 MONDO:0005328 True glaucoma eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005044 MONDO:0000473 True hypertensive disorder arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005045 MONDO:0000591 True hypertrophic cardiomyopathy intrinsic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005047 MONDO:0005039 True infertility disorder reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005048 MONDO:0019954 True pancreatic insulin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005050 MONDO:0006306 True invasive ductal and lobular carcinoma mixed lobular and ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005051 MONDO:0000552 True invasive lobular breast carcinoma breast lobular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005051 MONDO:0006256 True invasive lobular breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005052 MONDO:0005020 True irritable bowel syndrome intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005053 MONDO:0005385 True ischemic disease vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005055 MONDO:0005108 True Kaposi's sarcoma viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005055 MONDO:0015157 True Kaposi's sarcoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005056 MONDO:0005096 True keratinizing squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005057 MONDO:0002120 True large cell neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005057 MONDO:0005232 True large cell neuroendocrine carcinoma large cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005058 MONDO:0002924 True leiomyosarcoma smooth muscle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005058 MONDO:0017345 True leiomyosarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005058 MONDO:0018078 True leiomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005059 MONDO:0044881 True leukemia hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005060 MONDO:0018078 True liposarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005061 MONDO:0004970 True lung adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005061 MONDO:0005233 True lung adenocarcinoma non-small cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005062 MONDO:0005157 True lymphoma lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005062 MONDO:0015757 True lymphoma lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005063 MONDO:0004953 True medullary breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005067 MONDO:0010434 True monophasic synovial sarcoma synovial sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005072 MONDO:0006316 True neuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005074 MONDO:0002512 True papillary cystadenocarcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005074 MONDO:0006349 True papillary cystadenocarcinoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005075 MONDO:0002512 True thyroid gland papillary carcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005078 MONDO:0021045 True phyllodes tumor fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005080 MONDO:0002405 True portal hypertension hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005082 MONDO:0004970 True prostate adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005082 MONDO:0005159 True prostate adenocarcinoma prostate carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005083 MONDO:0005046 True psoriasis immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005085 MONDO:0006105 True pterygium benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005086 MONDO:0005206 True renal cell carcinoma renal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005089 MONDO:0004992 True sarcoma cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005090 MONDO:0005485 True schizophrenia psychotic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005091 MONDO:0020753 True severe acute respiratory syndrome Orthocoronavirinae infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005092 MONDO:0004970 True signet ring cell carcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005093 MONDO:0002051 True skin disorder integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005094 MONDO:0002789 True hemangiopericytoma hemangiopericytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005095 MONDO:0006816 True spondyloarthropathy arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005096 MONDO:0002532 True squamous cell carcinoma squamous cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005096 MONDO:0004993 True squamous cell carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005097 MONDO:0005096 True squamous cell lung carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005097 MONDO:0005138 True squamous cell lung carcinoma lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005100 MONDO:0019340 True systemic sclerosis scleroderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005101 MONDO:0005292 True ulcerative colitis colitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005102 MONDO:0002397 True undifferentiated (embryonal) sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005103 MONDO:0005060 True well-differentiated liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005104 MONDO:0005089 True aJCC grade 1 sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005105 MONDO:0021143 True melanoma melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005106 MONDO:0044983 True lipoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005112 MONDO:0003308 True malignant pleural mesothelioma pleural mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005116 MONDO:0005020 True Whipple disease intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005119 MONDO:0000314 True anthrax infection primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005124 MONDO:0000314 True leprosy primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004941 MONDO:0015691 True eosinophilia-myalgia syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004942 MONDO:0002889 True orbit lymphoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004943 MONDO:0002889 True orbit sarcoma orbital cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004943 MONDO:0005089 True orbit sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004944 MONDO:0004497 True neurosyphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004946 MONDO:0002908 True hypoglycemia glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004947 MONDO:0004967 True B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004948 MONDO:0001014 True B-cell chronic lymphocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004948 MONDO:0004949 True B-cell chronic lymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004948 MONDO:0017594 True B-cell chronic lymphocytic leukemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004949 MONDO:0004095 True neoplasm of mature B-cells B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004950 MONDO:0001056 True gastric carcinoma gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004950 MONDO:0006181 True gastric carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004952 MONDO:0005062 True Hodgkins lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004952 MONDO:0017343 True Hodgkins lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004953 MONDO:0005590 True invasive ductal breast carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004953 MONDO:0006256 True invasive ductal breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004956 MONDO:0005159 True metastatic prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004957 MONDO:0004970 True mucinous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004958 MONDO:0044710 True oral cavity squamous cell carcinoma lip and oral cavity squamous cell carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004958 MONDO:0044925 True oral cavity squamous cell carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004959 MONDO:0004949 True plasma cell neoplasm neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004963 MONDO:0004967 True T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004964 MONDO:0005062 True peripheral T-cell lymphoma, not otherwise specified lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004964 MONDO:0005169 True peripheral T-cell lymphoma, not otherwise specified neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004965 MONDO:0004970 True acinar cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004966 MONDO:0004298 True gastritis stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004967 MONDO:0003538 True acute lymphoblastic leukemia precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004967 MONDO:0005402 True acute lymphoblastic leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004967 MONDO:0010643 True acute lymphoblastic leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004967 MONDO:0018908 True acute lymphoblastic leukemia non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004970 MONDO:0004993 True adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004970 MONDO:0024276 True adenocarcinoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004972 MONDO:0005626 True adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004973 MONDO:0006074 True adenosquamous lung carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004974 MONDO:0021072 True adrenal gland pheochromocytoma sympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004974 MONDO:0021237 True adrenal gland pheochromocytoma adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004975 MONDO:0005574 True Alzheimer disease tauopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004976 MONDO:0020128 True amyotrophic lateral sclerosis motor neuron disorder SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004977 MONDO:0000430 True angioimmunoblastic T-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004979 MONDO:0001358 True asthma bronchial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004980 MONDO:0002406 True atopic eczema dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004980 MONDO:0005271 True atopic eczema allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004982 MONDO:0002356 True pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004983 MONDO:0005372 True spermatogenic failure male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004985 MONDO:0005371 True bipolar disorder mood disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004986 MONDO:0001187 True urinary bladder carcinoma urinary bladder cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004986 MONDO:0004993 True urinary bladder carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004987 MONDO:0006026 True urinary bladder neoplasm urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004987 MONDO:0021066 True urinary bladder neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004988 MONDO:0004970 True breast adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004988 MONDO:0004989 True breast adenocarcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004989 MONDO:0004993 True breast carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004989 MONDO:0007254 True breast carcinoma breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004991 MONDO:0005061 True minimally invasive lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004992 MONDO:0005070 True cancer neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004993 MONDO:0004992 True carcinoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004993 MONDO:0005626 True carcinoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0004996 MONDO:0018874 True childhood acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004997 MONDO:0000631 True chondroblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004997 MONDO:0024470 True chondroblastoma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005002 MONDO:0002267 True chronic obstructive pulmonary disease obstructive lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005005 MONDO:0005004 True clear cell renal carcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005005 MONDO:0005549 True clear cell renal carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005006 MONDO:0002930 True clear cell sarcoma of kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005007 MONDO:0002271 True colon mucinous adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005007 MONDO:0004957 True colon mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005008 MONDO:0004970 True colorectal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005008 MONDO:0024331 True colorectal adenocarcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005010 MONDO:0000473 True coronary artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005011 MONDO:0005265 True Crohn disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005012 MONDO:0002898 True cutaneous melanoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005012 MONDO:0005105 True cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005012 MONDO:0021583 True cutaneous melanoma melanocytic skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005013 MONDO:0021054 True dedifferentiated chondrosarcoma bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005015 MONDO:0002908 True diabetes mellitus glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005017 MONDO:0005036 True diffuse gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005017 MONDO:0021652 True diffuse gastric adenocarcinoma diffuse type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005019 MONDO:0005100 True diffuse scleroderma systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005020 MONDO:0004335 True intestinal disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005021 MONDO:0000591 True dilated cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005023 MONDO:0003218 True ductal breast carcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005023 MONDO:0004007 True ductal breast carcinoma in situ breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005023 MONDO:0004658 True ductal breast carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005023 MONDO:0005590 True ductal breast carcinoma in situ breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005025 MONDO:0000470 True endocarditis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005026 MONDO:0004970 True endometrioid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005027 MONDO:0005560 True epilepsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005028 MONDO:0004970 True esophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005028 MONDO:0019086 True esophageal adenocarcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005029 MONDO:0020076 True essential thrombocythemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005031 MONDO:0006209 True fibromatosis fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005032 MONDO:0004972 True follicular thyroid adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005032 MONDO:0006107 True follicular thyroid adenoma benign thyroid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005032 MONDO:0036976 True follicular thyroid adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005033 MONDO:0002366 True ganglioneuroma autonomic nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005033 MONDO:0016729 True ganglioneuroma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005034 MONDO:0015447 True thyroid gland follicular carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005034 MONDO:0024622 True thyroid gland follicular carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005035 MONDO:0006316 True ganglioneuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005036 MONDO:0004950 True gastric adenocarcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005036 MONDO:0004970 True gastric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005037 MONDO:0005036 True gastric intestinal type adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005037 MONDO:0006254 True gastric intestinal type adenocarcinoma intestinal type adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005040 MONDO:0005070 True germ cell tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005041 MONDO:0005328 True glaucoma eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005044 MONDO:0000473 True hypertensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005045 MONDO:0000591 True hypertrophic cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005047 MONDO:0005039 True infertility disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005048 MONDO:0019954 True pancreatic insulin-producing neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005050 MONDO:0006306 True invasive ductal and lobular carcinoma mixed lobular and ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005051 MONDO:0000552 True invasive lobular breast carcinoma breast lobular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005051 MONDO:0006256 True invasive lobular breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005052 MONDO:0005020 True irritable bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005053 MONDO:0005385 True ischemic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005055 MONDO:0005108 True Kaposi's sarcoma viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005055 MONDO:0015157 True Kaposi's sarcoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005056 MONDO:0005096 True keratinizing squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005057 MONDO:0002120 True large cell neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005057 MONDO:0005232 True large cell neuroendocrine carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005058 MONDO:0002924 True leiomyosarcoma smooth muscle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005058 MONDO:0017345 True leiomyosarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005058 MONDO:0018078 True leiomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005059 MONDO:0044881 True leukemia hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005060 MONDO:0018078 True liposarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005061 MONDO:0004970 True lung adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005061 MONDO:0005233 True lung adenocarcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005062 MONDO:0005157 True lymphoma lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005062 MONDO:0015757 True lymphoma lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005063 MONDO:0004953 True medullary breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005067 MONDO:0010434 True monophasic synovial sarcoma synovial sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005072 MONDO:0006316 True neuroblastoma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005074 MONDO:0002512 True papillary cystadenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005074 MONDO:0006349 True papillary cystadenocarcinoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005075 MONDO:0002512 True thyroid gland papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005078 MONDO:0021045 True phyllodes tumor fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005080 MONDO:0002405 True portal hypertension hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005082 MONDO:0004970 True prostate adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005082 MONDO:0005159 True prostate adenocarcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005083 MONDO:0005046 True psoriasis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005085 MONDO:0006105 True pterygium benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005086 MONDO:0005206 True renal cell carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005089 MONDO:0004992 True sarcoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005090 MONDO:0005485 True schizophrenia psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005091 MONDO:0020753 True severe acute respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005092 MONDO:0004970 True signet ring cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005093 MONDO:0002051 True skin disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005094 MONDO:0002789 True hemangiopericytoma hemangiopericytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005095 MONDO:0006816 True spondyloarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005096 MONDO:0002532 True squamous cell carcinoma squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005096 MONDO:0004993 True squamous cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005097 MONDO:0005096 True squamous cell lung carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005097 MONDO:0005138 True squamous cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005100 MONDO:0019340 True systemic sclerosis scleroderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005101 MONDO:0005292 True ulcerative colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005102 MONDO:0002397 True undifferentiated (embryonal) sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005103 MONDO:0005060 True well-differentiated liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005104 MONDO:0005089 True aJCC grade 1 sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005105 MONDO:0021143 True melanoma melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005106 MONDO:0044983 True lipoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005112 MONDO:0003308 True malignant pleural mesothelioma pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005116 MONDO:0005020 True Whipple disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005119 MONDO:0000314 True anthrax infection primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005124 MONDO:0000314 True leprosy primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005125 MONDO:0005124 True borderline leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005126 MONDO:0005124 True tuberculoid leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005127 MONDO:0005124 True lepromatous leprosy leprosy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005129 MONDO:0001176 True cataract lens disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005129 MONDO:0003847 True cataract hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005130 MONDO:0000588 True celiac disease autoimmune disorder of gastrointestinal tract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005131 MONDO:0002974 True cervical carcinoma cervical cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005135 MONDO:0005550 True parasitic infectious disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005136 MONDO:0002428 True malaria protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005138 MONDO:0004993 True lung carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005138 MONDO:0008903 True lung carcinoma lung cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005139 MONDO:0011122 True morbid obesity obesity disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005140 MONDO:0018364 True ovarian carcinoma malignant epithelial tumor of ovary SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005145 MONDO:0004976 True sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005147 MONDO:0000569 True type 1 diabetes mellitus autoimmune disorder of endocrine system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005147 MONDO:0005015 True type 1 diabetes mellitus diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005148 MONDO:0005015 True type 2 diabetes mellitus diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005149 MONDO:0005044 True pulmonary hypertension hypertensive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005150 MONDO:0002175 True age-related macular degeneration degeneration of macula and posterior pole SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005152 MONDO:0003381 True hypopituitarism pituitary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005153 MONDO:0004970 True cervical adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005153 MONDO:0005131 True cervical adenocarcinoma cervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005154 MONDO:0002515 True liver disorder hepatobiliary disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005155 MONDO:0005154 True cirrhosis of liver liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005156 MONDO:0002602 True encephalomyelitis central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005157 MONDO:0044881 True lymphoid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005159 MONDO:0004993 True prostate carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005159 MONDO:0008315 True prostate carcinoma prostate cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005160 MONDO:0005561 True aortic aneurysm aortic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005164 MONDO:0006209 True fibrosarcoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005164 MONDO:0018078 True fibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005165 MONDO:0005070 True benign neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0005166 MONDO:0000631 True osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005167 MONDO:0006209 True fibroma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005169 MONDO:0024615 True neoplasm of mature T-cells or NK-cells T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005170 MONDO:0044881 True myeloid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005173 MONDO:0000611 True actinic keratosis pre-malignant neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005177 MONDO:0002369 True serous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005178 MONDO:0005578 True osteoarthritis arthritic joint disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005181 MONDO:0009637 True progressive external ophthalmoplegia inborn mitochondrial myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005183 MONDO:0002369 True ovarian cystadenoma cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005184 MONDO:0006047 True pancreatic ductal adenocarcinoma pancreatic adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005186 MONDO:0005303 True cocaine dependence drug dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005188 MONDO:0005055 True iatrogenic Kaposi's sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005190 MONDO:0002273 True macroglobulinemia plasma protein metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005191 MONDO:0005105 True metastatic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005192 MONDO:0002116 True exocrine pancreatic carcinoma malignant exocrine pancreas neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005192 MONDO:0006181 True exocrine pancreatic carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005193 MONDO:0021259 True prostate intraepithelial neoplasia prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005193 MONDO:0024474 True prostate intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005197 MONDO:0003393 True thymus neoplasm thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005198 MONDO:0002195 True vulvar intraepithelial neoplasia vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005201 MONDO:0000591 True restrictive cardiomyopathy intrinsic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005206 MONDO:0002367 True renal carcinoma kidney cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005206 MONDO:0004993 True renal carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005207 MONDO:0002872 True choriocarcinoma trophoblastic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005208 MONDO:0002971 True amelanotic skin melanoma amelanotic melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005208 MONDO:0005012 True amelanotic skin melanoma cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005210 MONDO:0005089 True uterine corpus sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005210 MONDO:0006003 True uterine corpus sarcoma uterine corpus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005211 MONDO:0002752 True ovarian serous adenocarcinoma ovarian adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005211 MONDO:0005278 True ovarian serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005211 MONDO:0024885 True ovarian serous adenocarcinoma malignant ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005212 MONDO:0018078 True rhabdomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005214 MONDO:0001528 True vulva sarcoma vulva cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005214 MONDO:0018078 True vulva sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005215 MONDO:0001528 True vulvar carcinoma vulva cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005215 MONDO:0004993 True vulvar carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005216 MONDO:0002038 True hypopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005216 MONDO:0005806 True hypopharyngeal carcinoma hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005216 MONDO:0021345 True hypopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005219 MONDO:0002657 True breast fibrocystic disease breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005220 MONDO:0005086 True collecting duct carcinoma renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005221 MONDO:0005519 True renal pelvis urothelial carcinoma renal pelvis carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005221 MONDO:0020654 True renal pelvis urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005223 MONDO:0015667 True acute myeloid leukemia with minimal differentiation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005224 MONDO:0015667 True acute myeloblastic leukemia without maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005229 MONDO:0005113 True bacterial infectious disease with sepsis bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005232 MONDO:0004993 True large cell carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005233 MONDO:0005138 True non-small cell lung carcinoma lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005235 MONDO:0009693 True smoldering plasma cell myeloma plasma cell myeloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005240 MONDO:0002118 True kidney disorder urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005244 MONDO:0003620 True peripheral neuropathy peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005246 MONDO:0002614 True osteomyelitis bone inflammation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005258 MONDO:0000594 True autism spectrum disorder pervasive developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005259 MONDO:0005258 True Asperger syndrome autism spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005260 MONDO:0005258 True autism autism spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005264 MONDO:0005299 True transient ischemic attack brain ischemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005265 MONDO:0005020 True inflammatory bowel disease intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005266 MONDO:0002311 True diabetic retinopathy retinal vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005267 MONDO:0004995 True heart disorder cardiovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005269 MONDO:0000473 True carotid artery disorder arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005269 MONDO:0011057 True carotid artery disorder cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005272 MONDO:0018881 True myelodysplastic syndrome with single lineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005275 MONDO:0000270 True lung disorder lower respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005276 MONDO:0002220 True dental caries tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005277 MONDO:0005560 True migraine disorder brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005278 MONDO:0004970 True serous adenocarcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005279 MONDO:0000473 True pulmonary embolism arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005280 MONDO:0003105 True prostatitis prostate disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005282 MONDO:0004670 True cutaneous lupus erythematosus lupus erythematosus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005283 MONDO:0005071 True retinal disorder nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005283 MONDO:0005328 True retinal disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005286 MONDO:0005586 True palatal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005286 MONDO:0021245 True palatal neoplasm oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005289 MONDO:0001735 True paranasal sinus neoplasm paranasal sinus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005291 MONDO:0006693 True brain aneurysm cerebral arterial disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005292 MONDO:0005265 True colitis inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005294 MONDO:0005385 True peripheral vascular disease vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005295 MONDO:0002277 True intermittent vascular claudication arteriosclerosis disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005129 MONDO:0001176 True cataract lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005129 MONDO:0003847 True cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005130 MONDO:0000588 True celiac disease autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005131 MONDO:0002974 True cervical carcinoma cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005135 MONDO:0005550 True parasitic infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005136 MONDO:0002428 True malaria protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005138 MONDO:0004993 True lung carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005138 MONDO:0008903 True lung carcinoma lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005139 MONDO:0011122 True morbid obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005140 MONDO:0018364 True ovarian carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005145 MONDO:0004976 True sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005147 MONDO:0000569 True type 1 diabetes mellitus autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005147 MONDO:0005015 True type 1 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005148 MONDO:0005015 True type 2 diabetes mellitus diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005149 MONDO:0005044 True pulmonary hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005150 MONDO:0002175 True age-related macular degeneration degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005152 MONDO:0003381 True hypopituitarism pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005153 MONDO:0004970 True cervical adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005153 MONDO:0005131 True cervical adenocarcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005154 MONDO:0002515 True liver disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005155 MONDO:0005154 True cirrhosis of liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005156 MONDO:0002602 True encephalomyelitis central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005157 MONDO:0044881 True lymphoid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005159 MONDO:0004993 True prostate carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005159 MONDO:0008315 True prostate carcinoma prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005160 MONDO:0005561 True aortic aneurysm aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005164 MONDO:0006209 True fibrosarcoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005164 MONDO:0018078 True fibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005165 MONDO:0005070 True benign neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005166 MONDO:0000631 True osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005167 MONDO:0006209 True fibroma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005169 MONDO:0024615 True neoplasm of mature T-cells or NK-cells T-cell and NK-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005170 MONDO:0044881 True myeloid neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005173 MONDO:0000611 True actinic keratosis pre-malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005177 MONDO:0002369 True serous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005178 MONDO:0005578 True osteoarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005181 MONDO:0009637 True progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005183 MONDO:0002369 True ovarian cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005184 MONDO:0006047 True pancreatic ductal adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005186 MONDO:0005303 True cocaine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005188 MONDO:0005055 True iatrogenic Kaposi's sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005190 MONDO:0002273 True macroglobulinemia plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005191 MONDO:0005105 True metastatic melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005192 MONDO:0002116 True exocrine pancreatic carcinoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005192 MONDO:0006181 True exocrine pancreatic carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005193 MONDO:0021259 True prostate intraepithelial neoplasia prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005193 MONDO:0024474 True prostate intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005197 MONDO:0003393 True thymus neoplasm thymus gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005198 MONDO:0002195 True vulvar intraepithelial neoplasia vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005201 MONDO:0000591 True restrictive cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005206 MONDO:0002367 True renal carcinoma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005206 MONDO:0004993 True renal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005207 MONDO:0002872 True choriocarcinoma trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005208 MONDO:0002971 True amelanotic skin melanoma amelanotic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005208 MONDO:0005012 True amelanotic skin melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005210 MONDO:0005089 True uterine corpus sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005210 MONDO:0006003 True uterine corpus sarcoma uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005211 MONDO:0002752 True ovarian serous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005211 MONDO:0005278 True ovarian serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005211 MONDO:0024885 True ovarian serous adenocarcinoma malignant ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005212 MONDO:0018078 True rhabdomyosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005214 MONDO:0001528 True vulva sarcoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005214 MONDO:0018078 True vulva sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005215 MONDO:0001528 True vulvar carcinoma vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005215 MONDO:0004993 True vulvar carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005216 MONDO:0002038 True hypopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005216 MONDO:0005806 True hypopharyngeal carcinoma hypopharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005216 MONDO:0021345 True hypopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005219 MONDO:0002657 True breast fibrocystic disease breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005220 MONDO:0005086 True collecting duct carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005221 MONDO:0005519 True renal pelvis urothelial carcinoma renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005221 MONDO:0020654 True renal pelvis urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005223 MONDO:0015667 True acute myeloid leukemia with minimal differentiation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005224 MONDO:0015667 True acute myeloblastic leukemia without maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005229 MONDO:0005113 True bacterial infectious disease with sepsis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005232 MONDO:0004993 True large cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005233 MONDO:0005138 True non-small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005235 MONDO:0009693 True smoldering plasma cell myeloma plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005240 MONDO:0002118 True kidney disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005244 MONDO:0003620 True peripheral neuropathy peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005246 MONDO:0002614 True osteomyelitis bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005258 MONDO:0000594 True autism spectrum disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005259 MONDO:0005258 True Asperger syndrome autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005260 MONDO:0005258 True autism autism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005264 MONDO:0005299 True transient ischemic attack brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005265 MONDO:0005020 True inflammatory bowel disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005266 MONDO:0002311 True diabetic retinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005267 MONDO:0004995 True heart disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005269 MONDO:0000473 True carotid artery disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005269 MONDO:0011057 True carotid artery disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005272 MONDO:0018881 True myelodysplastic syndrome with single lineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005275 MONDO:0000270 True lung disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005276 MONDO:0002220 True dental caries tooth hard tissue disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005277 MONDO:0005560 True migraine disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005278 MONDO:0004970 True serous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005279 MONDO:0000473 True pulmonary embolism arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005280 MONDO:0003105 True prostatitis prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005282 MONDO:0004670 True cutaneous lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005283 MONDO:0005071 True retinal disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005283 MONDO:0005328 True retinal disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005286 MONDO:0005586 True palatal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005286 MONDO:0021245 True palatal neoplasm oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005289 MONDO:0001735 True paranasal sinus neoplasm paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005291 MONDO:0006693 True brain aneurysm cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005292 MONDO:0005265 True colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005294 MONDO:0005385 True peripheral vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005295 MONDO:0002277 True intermittent vascular claudication arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005296 MONDO:0003406 True sleep apnea syndrome sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005297 MONDO:0004184 True urethritis urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005298 MONDO:0000837 True osteoporosis bone resorption disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005299 MONDO:0005053 True brain ischemia ischemic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005299 MONDO:0011057 True brain ischemia cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005300 MONDO:0005240 True chronic kidney disease kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005301 MONDO:0000568 True multiple sclerosis autoimmune disorder of central nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005301 MONDO:0002562 True multiple sclerosis demyelinating disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005303 MONDO:0004938 True drug dependence substance dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005304 MONDO:0004868 True biliary tract neoplasm biliary tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005308 MONDO:0003847 True ciliopathy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005311 MONDO:0002277 True atherosclerosis arteriosclerosis disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005314 MONDO:0005301 True relapsing-remitting multiple sclerosis multiple sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005321 MONDO:0000766 True Fuchs' endothelial dystrophy corneal endothelial dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005321 MONDO:0020214 True Fuchs' endothelial dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005333 MONDO:0003240 True hyperthyroxinemia thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005335 MONDO:0021118 True colorectal neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005338 MONDO:0005041 True open-angle glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005341 MONDO:0020804 True skin basal cell carcinoma basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005342 MONDO:0002462 True IgA glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005349 MONDO:0002467 True otosclerosis inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005350 MONDO:0005160 True abdominal aortic aneurysm aortic aneurysm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005351 MONDO:0005451 True anorexia nervosa eating disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005352 MONDO:0000592 True conduct disorder specific developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005355 MONDO:0006715 True coronary restenosis coronary stenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005356 MONDO:0005010 True coronary vasospasm coronary artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005357 MONDO:0005429 True Creutzfeldt Jacob disease prion disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005358 MONDO:0005502 True Dengue hemorrhagic fever dengue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005361 MONDO:0001409 True eosinophilic esophagitis esophagitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005362 MONDO:0002134 True erectile dysfunction physiological sexual disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005367 MONDO:0005530 True heroin dependence opiate dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005369 MONDO:0019496 True carcinoid tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005297 MONDO:0004184 True urethritis urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005298 MONDO:0000837 True osteoporosis bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005299 MONDO:0005053 True brain ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005299 MONDO:0011057 True brain ischemia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005300 MONDO:0005240 True chronic kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005301 MONDO:0000568 True multiple sclerosis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005301 MONDO:0002562 True multiple sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005303 MONDO:0004938 True drug dependence substance dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005304 MONDO:0004868 True biliary tract neoplasm biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005308 MONDO:0003847 True ciliopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005311 MONDO:0002277 True atherosclerosis arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005314 MONDO:0005301 True relapsing-remitting multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005321 MONDO:0000766 True Fuchs' endothelial dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005321 MONDO:0020214 True Fuchs' endothelial dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005333 MONDO:0003240 True hyperthyroxinemia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005335 MONDO:0021118 True colorectal neoplasm intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005338 MONDO:0005041 True open-angle glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005341 MONDO:0020804 True skin basal cell carcinoma basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005342 MONDO:0002462 True IgA glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005349 MONDO:0002467 True otosclerosis inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005350 MONDO:0005160 True abdominal aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005351 MONDO:0005451 True anorexia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005352 MONDO:0000592 True conduct disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005355 MONDO:0006715 True coronary restenosis coronary stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005356 MONDO:0005010 True coronary vasospasm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005357 MONDO:0005429 True Creutzfeldt Jacob disease prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005358 MONDO:0005502 True Dengue hemorrhagic fever dengue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005361 MONDO:0001409 True eosinophilic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005362 MONDO:0002134 True erectile dysfunction physiological sexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005367 MONDO:0005530 True heroin dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005369 MONDO:0019496 True carcinoid tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005372 MONDO:0003150 True male infertility male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005374 MONDO:0002334 True bone marrow neoplasm hematopoietic and lymphoid system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005374 MONDO:0003225 True bone marrow neoplasm bone marrow disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005375 MONDO:0004821 True nasopharyngeal neoplasm nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005375 MONDO:0005586 True nasopharyngeal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005375 MONDO:0021246 True nasopharyngeal neoplasm pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005376 MONDO:0002462 True membranous glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005377 MONDO:0002331 True nephrotic syndrome nephrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005379 MONDO:0005618 True neurotic disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005380 MONDO:0005381 True osteonecrosis bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005382 MONDO:0002185 True bone Paget disease hyperostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005383 MONDO:0005618 True panic disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005384 MONDO:0005027 True focal epilepsy epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005385 MONDO:0004995 True vascular disorder cardiovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005386 MONDO:0000473 True peripheral arterial disease arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005387 MONDO:0005558 True primary ovarian failure ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005391 MONDO:0005071 True restless legs syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005392 MONDO:0000836 True scoliosis disease of bone structure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005394 MONDO:0011057 True brain infarction cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005395 MONDO:0005071 True movement disorder nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005396 MONDO:0005160 True thoracic aortic aneurysm aortic aneurysm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005397 MONDO:0003240 True goiter thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005401 MONDO:0005335 True colonic neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005402 MONDO:0005059 True lymphoid leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005402 MONDO:0005157 True lymphoid leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005404 MONDO:0002254 True myalgic encephalomeyelitis/chronic fatigue syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005405 MONDO:0004979 True childhood onset asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005406 MONDO:0005015 True gestational diabetes diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005411 MONDO:0002516 True gallbladder cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005411 MONDO:0021253 True gallbladder cancer gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005412 MONDO:0004247 True duodenal ulcer peptic ulcer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005420 MONDO:0003240 True hypothyroidism thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005424 MONDO:0019297 True elephantiasis lymphedema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005425 MONDO:0005424 True podoconiosis elephantiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005429 MONDO:0005560 True prion disease brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005438 MONDO:0001082 True metastatic malignant neoplasm in the lymph nodes lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005439 MONDO:0001336 True familial hypercholesterolemia familial hyperlipidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005441 MONDO:0003276 True otitis media middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005445 MONDO:0011989 True visceral leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005446 MONDO:0011989 True cutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005447 MONDO:0005836 True testicular cancer male reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005447 MONDO:0021348 True testicular cancer neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005451 MONDO:0002025 True eating disorder psychiatric disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005452 MONDO:0005451 True bulimia nervosa eating disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005453 MONDO:0005267 True congenital heart disease heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005454 MONDO:0019496 True lung neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005454 MONDO:0021117 True lung neuroendocrine neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005459 MONDO:0000940 True human African trypanosomiasis trypanosomiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005460 MONDO:0005812 True swine influenza influenza SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005461 MONDO:0002447 True endometrium adenocarcinoma endometrial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005461 MONDO:0004970 True endometrium adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005462 MONDO:0005564 True primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005462 MONDO:0021193 True primitive neuroectodermal tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005475 MONDO:0005277 True migraine with aura migraine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005480 MONDO:0002406 True contact dermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005484 MONDO:0005335 True colorectal adenoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005484 MONDO:0006180 True colorectal adenoma digestive system adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005485 MONDO:0002039 True psychotic disorder cognitive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005486 MONDO:0006999 True tooth agenesis tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005487 MONDO:0005485 True schizoaffective disorder psychotic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005489 MONDO:0001697 True dyslexia reading disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005495 MONDO:0005151 True adrenal gland disorder endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005496 MONDO:0003059 True bile duct carcinoma bile duct cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005497 MONDO:0005381 True bone development disease bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005498 MONDO:0000314 True botulism primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005499 MONDO:0001657 True brain glioma brain cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005500 MONDO:0015286 True congenital disorder of glycosylation type I congenital disorder of glycosylation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005501 MONDO:0015286 True congenital disorder of glycosylation type II congenital disorder of glycosylation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005504 MONDO:0000314 True diphtheria primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005505 MONDO:0016729 True dysembryoplastic neuroepithelial tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005505 MONDO:0021211 True dysembryoplastic neuroepithelial tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005506 MONDO:0002090 True eccrine sweat gland cancer eccrine sweat gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005506 MONDO:0002206 True eccrine sweat gland cancer sweat gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005507 MONDO:0005515 True gingival cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005507 MONDO:0005627 True gingival cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005507 MONDO:0021086 True gingival cancer gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0002181 True hereditary multiple osteochondromas exostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0019060 True hereditary multiple osteochondromas bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005511 MONDO:0015974 True janus kinase-3 deficiency severe combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005512 MONDO:0006362 True malignant peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005514 MONDO:0016764 True nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005514 MONDO:0021129 True nanophthalmia microphthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005515 MONDO:0002516 True oral cavity cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005515 MONDO:0021245 True oral cavity cancer oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005516 MONDO:0005497 True osteochondrodysplasia bone development disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005517 MONDO:0002516 True pharynx cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005517 MONDO:0020592 True pharynx cancer disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005517 MONDO:0021246 True pharynx cancer pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005517 MONDO:0021310 True pharynx cancer malignant tumor of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005518 MONDO:0024665 True pseudohermaphroditism indeterminate sex and/or pseudohermaphroditism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005519 MONDO:0005206 True renal pelvis carcinoma renal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005519 MONDO:0044919 True renal pelvis carcinoma malignant renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005520 MONDO:0000833 True rickets bone remodeling disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005522 MONDO:0000956 True small intestine carcinoma small intestine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005522 MONDO:0006181 True small intestine carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005523 MONDO:0002525 True steroid inherited metabolic disorder inherited lipid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005524 MONDO:0002206 True sweat gland carcinoma sweat gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005524 MONDO:0004970 True sweat gland carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005524 MONDO:0006973 True sweat gland carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005526 MONDO:0000314 True tetanus primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005526 MONDO:0020010 True tetanus infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005527 MONDO:0005071 True toxic encephalopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005528 MONDO:0019052 True inborn vitamin metabolic disorder inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005530 MONDO:0005303 True opiate dependence drug dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005531 MONDO:0005530 True morphine dependence opiate dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005532 MONDO:0005011 True Crohn's colitis Crohn disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005541 MONDO:0000836 True spondylolysis disease of bone structure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005543 MONDO:0016264 True autoimmune hepatitis type 1 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005546 MONDO:0002254 True fibromyalgia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005554 MONDO:0003900 True rheumatic disorder connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005555 MONDO:0000926 True cycloplegia eye accommodation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005556 MONDO:0002462 True lupus nephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005558 MONDO:0002259 True ovarian disorder gonadal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005558 MONDO:0002263 True ovarian disorder female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005559 MONDO:0002602 True neurodegenerative disease central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005560 MONDO:0002602 True brain disorder central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005561 MONDO:0000473 True aortic disorder arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005564 MONDO:0005070 True embryonal neoplasm neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005565 MONDO:0004992 True blastoma cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005565 MONDO:0005564 True blastoma embryonal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005566 MONDO:0005567 True neonatal abstinence syndrome substance withdrawal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005567 MONDO:0002494 True substance withdrawal syndrome substance-related disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005568 MONDO:0005385 True cholesterol embolism vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005571 MONDO:0003225 True polycythemia bone marrow disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005574 MONDO:0005559 True tauopathy neurodegenerative disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005575 MONDO:0005335 True colorectal cancer colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005576 MONDO:0002459 True cryoglobulinemia type IV hypersensitivity disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005578 MONDO:0002614 True arthritic joint disease bone inflammation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005586 MONDO:0005070 True head and neck neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005590 MONDO:0004988 True breast ductal adenocarcinoma breast adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005595 MONDO:0002358 True laryngeal squamous cell carcinoma laryngeal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005595 MONDO:0010150 True laryngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005596 MONDO:0004970 True cystadenocarcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005596 MONDO:0021077 True cystadenocarcinoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005599 MONDO:0006292 True malignant epithelioid mesothelioma malignant mesothelioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005601 MONDO:0002752 True ovarian mucinous adenocarcinoma ovarian adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005601 MONDO:0004957 True ovarian mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005601 MONDO:0024282 True ovarian mucinous adenocarcinoma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005602 MONDO:0006233 True ovarian teratoma gonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005602 MONDO:0011366 True ovarian teratoma ovarian germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005605 MONDO:0002363 True transitional cell papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005606 MONDO:0004970 True tubular adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005611 MONDO:0004986 True bladder transitional cell carcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005611 MONDO:0040679 True bladder transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005613 MONDO:0004970 True mesonephric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005614 MONDO:0006074 True pancreatic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005615 MONDO:0004959 True plasmacytoma plasma cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005616 MONDO:0003036 True pulmonary mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005617 MONDO:0004993 True undifferentiated carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005619 MONDO:0000827 True typhoid fever salmonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005620 MONDO:0011057 True cerebral amyloid angiopathy cerebrovascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005620 MONDO:0018634 True cerebral amyloid angiopathy hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005625 MONDO:0005136 True cerebral malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005626 MONDO:0005070 True epithelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005627 MONDO:0004992 True head and neck cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005627 MONDO:0005586 True head and neck cancer head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005628 MONDO:0004989 True male breast carcinoma breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005629 MONDO:0023865 True Acanthamoeba keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005631 MONDO:0000315 True actinomycosis commensal bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005632 MONDO:0005275 True acute chest syndrome lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005635 MONDO:0000624 True adenomyoma benign female reproductive system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005636 MONDO:0001416 True adenosarcoma female reproductive organ cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005636 MONDO:0005853 True adenosarcoma malignant mixed neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005640 MONDO:0005560 True akinetic mutism brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005642 MONDO:0002314 True atopic conjunctivitis chronic conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005644 MONDO:0002428 True amebiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005648 MONDO:0003803 True aortic valve insufficiency aortic valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005649 MONDO:0002031 True appendicitis cecal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005657 MONDO:0002312 True aspergillosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005659 MONDO:0003014 True atrophic rhinitis rhinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005661 MONDO:0002428 True babesiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005662 MONDO:0002428 True balantidiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005663 MONDO:0002254 True Barre-Lieou syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005664 MONDO:0000314 True bartonellosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005665 MONDO:0001835 True Bell's palsy facial paralysis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0005665 MONDO:0002782 True Bell's palsy cranial nerve palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005667 MONDO:0005281 True biliary dyskinesia gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005670 MONDO:0005136 True blackwater fever malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005672 MONDO:0000308 True blastomycosis primary systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005674 MONDO:0021054 True bone giant cell tumor bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005680 MONDO:0019362 True Brill-Zinsser disease epidemic louse-borne typhus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005682 MONDO:0005249 True bronchopneumonia pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005683 MONDO:0000314 True brucellosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005684 MONDO:0000341 True bulbar polio paralytic poliomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005688 MONDO:0002269 True campylobacteriosis gastroenteritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005689 MONDO:0005303 True cannabis dependence drug dependence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005690 MONDO:0015926 True Caplan syndrome pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005692 MONDO:0005664 True cat-scratch disease bartonellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005693 MONDO:0002254 True cauda equina syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005693 MONDO:0003620 True cauda equina syndrome peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005694 MONDO:0002031 True cecal neoplasm cecal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005694 MONDO:0005401 True cecal neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005696 MONDO:0000368 True central nervous system tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005698 MONDO:0002256 True cervical incompetence cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005701 MONDO:0000315 True chlamydia trachomatis infectious disease commensal bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005374 MONDO:0002334 True bone marrow neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005374 MONDO:0003225 True bone marrow neoplasm bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005375 MONDO:0004821 True nasopharyngeal neoplasm nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005375 MONDO:0005586 True nasopharyngeal neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005375 MONDO:0021246 True nasopharyngeal neoplasm pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005376 MONDO:0002462 True membranous glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005377 MONDO:0002331 True nephrotic syndrome nephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005379 MONDO:0005618 True neurotic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005380 MONDO:0005381 True osteonecrosis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005382 MONDO:0002185 True bone Paget disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005383 MONDO:0005618 True panic disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005384 MONDO:0005027 True focal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005385 MONDO:0004995 True vascular disorder cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005386 MONDO:0000473 True peripheral arterial disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005387 MONDO:0005558 True primary ovarian failure ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005391 MONDO:0005071 True restless legs syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005392 MONDO:0000836 True scoliosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005394 MONDO:0011057 True brain infarction cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005395 MONDO:0005071 True movement disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005396 MONDO:0005160 True thoracic aortic aneurysm aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005397 MONDO:0003240 True goiter thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005401 MONDO:0005335 True colonic neoplasm colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005402 MONDO:0005059 True lymphoid leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005402 MONDO:0005157 True lymphoid leukemia lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005404 MONDO:0002254 True myalgic encephalomeyelitis/chronic fatigue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005405 MONDO:0004979 True childhood onset asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005406 MONDO:0005015 True gestational diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005411 MONDO:0002516 True gallbladder cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005411 MONDO:0021253 True gallbladder cancer gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005412 MONDO:0004247 True duodenal ulcer peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005420 MONDO:0003240 True hypothyroidism thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005424 MONDO:0019297 True elephantiasis lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005425 MONDO:0005424 True podoconiosis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005429 MONDO:0005560 True prion disease brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005438 MONDO:0001082 True metastatic malignant neoplasm in the lymph nodes lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005439 MONDO:0001336 True familial hypercholesterolemia familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005441 MONDO:0003276 True otitis media middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005445 MONDO:0011989 True visceral leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005446 MONDO:0011989 True cutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005447 MONDO:0005836 True testicular cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005447 MONDO:0021348 True testicular cancer neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005451 MONDO:0002025 True eating disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005452 MONDO:0005451 True bulimia nervosa eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005453 MONDO:0005267 True congenital heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005454 MONDO:0019496 True lung neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005454 MONDO:0021117 True lung neuroendocrine neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005459 MONDO:0000940 True human African trypanosomiasis trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005460 MONDO:0005812 True swine influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005461 MONDO:0002447 True endometrium adenocarcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005461 MONDO:0004970 True endometrium adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005462 MONDO:0005564 True primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005462 MONDO:0021193 True primitive neuroectodermal tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005475 MONDO:0005277 True migraine with aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005480 MONDO:0002406 True contact dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005484 MONDO:0005335 True colorectal adenoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005484 MONDO:0006180 True colorectal adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005485 MONDO:0002039 True psychotic disorder cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005486 MONDO:0006999 True tooth agenesis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005487 MONDO:0005485 True schizoaffective disorder psychotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005489 MONDO:0001697 True dyslexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005495 MONDO:0005151 True adrenal gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005496 MONDO:0003059 True bile duct carcinoma bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005497 MONDO:0005381 True bone development disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005498 MONDO:0000314 True botulism primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005499 MONDO:0001657 True brain glioma brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005500 MONDO:0015286 True congenital disorder of glycosylation type I congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005501 MONDO:0015286 True congenital disorder of glycosylation type II congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005504 MONDO:0000314 True diphtheria primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005505 MONDO:0016729 True dysembryoplastic neuroepithelial tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005505 MONDO:0021211 True dysembryoplastic neuroepithelial tumor brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005506 MONDO:0002090 True eccrine sweat gland cancer eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005506 MONDO:0002206 True eccrine sweat gland cancer sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005507 MONDO:0005515 True gingival cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005507 MONDO:0005627 True gingival cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005507 MONDO:0021086 True gingival cancer gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005508 MONDO:0002181 True hereditary multiple osteochondromas exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005508 MONDO:0019060 True hereditary multiple osteochondromas bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005511 MONDO:0015974 True janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005512 MONDO:0006362 True malignant peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005514 MONDO:0016764 True nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005514 MONDO:0021129 True nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005515 MONDO:0002516 True oral cavity cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005515 MONDO:0021245 True oral cavity cancer oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005516 MONDO:0005497 True osteochondrodysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005517 MONDO:0002516 True pharynx cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005517 MONDO:0020592 True pharynx cancer disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005517 MONDO:0021246 True pharynx cancer pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005517 MONDO:0021310 True pharynx cancer malignant tumor of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005518 MONDO:0024665 True pseudohermaphroditism indeterminate sex and/or pseudohermaphroditism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005519 MONDO:0005206 True renal pelvis carcinoma renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005519 MONDO:0044919 True renal pelvis carcinoma malignant renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005520 MONDO:0000833 True rickets bone remodeling disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005522 MONDO:0000956 True small intestine carcinoma small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005522 MONDO:0006181 True small intestine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005523 MONDO:0002525 True steroid inherited metabolic disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005524 MONDO:0002206 True sweat gland carcinoma sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005524 MONDO:0004970 True sweat gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005524 MONDO:0006973 True sweat gland carcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005526 MONDO:0000314 True tetanus primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005526 MONDO:0020010 True tetanus infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005527 MONDO:0005071 True toxic encephalopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005528 MONDO:0019052 True inborn vitamin metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005530 MONDO:0005303 True opiate dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005531 MONDO:0005530 True morphine dependence opiate dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005532 MONDO:0005011 True Crohn's colitis Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005541 MONDO:0000836 True spondylolysis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005543 MONDO:0016264 True autoimmune hepatitis type 1 autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005546 MONDO:0002254 True fibromyalgia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005554 MONDO:0003900 True rheumatic disorder connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005555 MONDO:0000926 True cycloplegia eye accommodation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005556 MONDO:0002462 True lupus nephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005558 MONDO:0002259 True ovarian disorder gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005558 MONDO:0002263 True ovarian disorder female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005559 MONDO:0002602 True neurodegenerative disease central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005560 MONDO:0002602 True brain disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005561 MONDO:0000473 True aortic disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005564 MONDO:0005070 True embryonal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005565 MONDO:0004992 True blastoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005565 MONDO:0005564 True blastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005566 MONDO:0005567 True neonatal abstinence syndrome substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005567 MONDO:0002494 True substance withdrawal syndrome substance-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005568 MONDO:0005385 True cholesterol embolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005571 MONDO:0003225 True polycythemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005574 MONDO:0005559 True tauopathy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005575 MONDO:0005335 True colorectal cancer colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005576 MONDO:0002459 True cryoglobulinemia type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005578 MONDO:0002614 True arthritic joint disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005586 MONDO:0005070 True head and neck neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005590 MONDO:0004988 True breast ductal adenocarcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005595 MONDO:0002358 True laryngeal squamous cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005595 MONDO:0010150 True laryngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005596 MONDO:0004970 True cystadenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005596 MONDO:0021077 True cystadenocarcinoma cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005599 MONDO:0006292 True malignant epithelioid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005601 MONDO:0002752 True ovarian mucinous adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005601 MONDO:0004957 True ovarian mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005601 MONDO:0024282 True ovarian mucinous adenocarcinoma mucinous ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005602 MONDO:0006233 True ovarian teratoma gonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005602 MONDO:0011366 True ovarian teratoma ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005605 MONDO:0002363 True transitional cell papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005606 MONDO:0004970 True tubular adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005611 MONDO:0004986 True bladder transitional cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005611 MONDO:0040679 True bladder transitional cell carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005613 MONDO:0004970 True mesonephric adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005614 MONDO:0006074 True pancreatic adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005615 MONDO:0004959 True plasmacytoma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005616 MONDO:0003036 True pulmonary mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005617 MONDO:0004993 True undifferentiated carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005619 MONDO:0000827 True typhoid fever salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005620 MONDO:0011057 True cerebral amyloid angiopathy cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005620 MONDO:0018634 True cerebral amyloid angiopathy hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005625 MONDO:0005136 True cerebral malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005626 MONDO:0005070 True epithelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005627 MONDO:0004992 True head and neck cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005627 MONDO:0005586 True head and neck cancer head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005628 MONDO:0004989 True male breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005629 MONDO:0023865 True Acanthamoeba keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005631 MONDO:0000315 True actinomycosis commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005632 MONDO:0005275 True acute chest syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005635 MONDO:0000624 True adenomyoma benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005636 MONDO:0001416 True adenosarcoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005636 MONDO:0005853 True adenosarcoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005640 MONDO:0005560 True akinetic mutism brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005642 MONDO:0002314 True atopic conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005644 MONDO:0002428 True amebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005648 MONDO:0003803 True aortic valve insufficiency aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005649 MONDO:0002031 True appendicitis cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005657 MONDO:0002312 True aspergillosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005659 MONDO:0003014 True atrophic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005661 MONDO:0002428 True babesiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005662 MONDO:0002428 True balantidiasis protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005663 MONDO:0002254 True Barre-Lieou syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005664 MONDO:0000314 True bartonellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005665 MONDO:0001835 True Bell's palsy facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005665 MONDO:0002782 True Bell's palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005667 MONDO:0005281 True biliary dyskinesia gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005670 MONDO:0005136 True blackwater fever malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005672 MONDO:0000308 True blastomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005674 MONDO:0021054 True bone giant cell tumor bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005680 MONDO:0019362 True Brill-Zinsser disease epidemic louse-borne typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005682 MONDO:0005249 True bronchopneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005683 MONDO:0000314 True brucellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005684 MONDO:0000341 True bulbar polio paralytic poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005688 MONDO:0002269 True campylobacteriosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005689 MONDO:0005303 True cannabis dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005690 MONDO:0015926 True Caplan syndrome pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005692 MONDO:0005664 True cat-scratch disease bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005693 MONDO:0002254 True cauda equina syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005693 MONDO:0003620 True cauda equina syndrome peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005694 MONDO:0002031 True cecal neoplasm cecal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005694 MONDO:0005401 True cecal neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005696 MONDO:0000368 True central nervous system tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005698 MONDO:0002256 True cervical incompetence cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005701 MONDO:0000315 True chlamydia trachomatis infectious disease commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005705 MONDO:0004664 True clonorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005706 MONDO:0000308 True coccidioidomycosis primary systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005707 MONDO:0002428 True coccidiosis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005708 MONDO:0006009 True Colorado tick fever viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005710 MONDO:0005062 True composite lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005711 MONDO:0005728 True congenital diaphragmatic hernia diaphragm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005712 MONDO:0004843 True congenital nystagmus pathologic nystagmus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005714 MONDO:0005976 True congenital syphilis syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005714 MONDO:0016511 True congenital syphilis infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005715 MONDO:0005989 True congenital toxoplasmosis toxoplasmosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005715 MONDO:0016511 True congenital toxoplasmosis infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005717 MONDO:0005108 True contagious pustular dermatitis viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005723 MONDO:0006764 True Cryptococcal meningitis fungal meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005724 MONDO:0002312 True cryptococcosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005725 MONDO:0005707 True cyclosporiasis coccidiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005729 MONDO:0004664 True dicrocoeliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005731 MONDO:0016075 True dipetalonemiasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005736 MONDO:0006009 True eastern equine encephalitis viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005737 MONDO:0018087 True Ebola hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005739 MONDO:0004664 True echinostomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005742 MONDO:0002155 True emphysematous cholecystitis cholecystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005743 MONDO:0005846 True encephalitozoonosis microsporidiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005749 MONDO:0005249 True eosinophilic pneumonia pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005751 MONDO:0005108 True epidemic pleurodynia viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005753 MONDO:0004867 True epiglottitis upper respiratory tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005754 MONDO:0000415 True epilepsy with generalized tonic-clonic seizures adolescence-adult electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005756 MONDO:0005961 True ethmoid sinusitis sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005757 MONDO:0002040 True eumycotic mycetoma dermatomycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005758 MONDO:0002146 True eunuchism hypogonadism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005759 MONDO:0004664 True fascioloidiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005761 MONDO:0016075 True filarial elephantiasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005764 MONDO:0004380 True follicular dendritic cell sarcoma dendritic cell sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005764 MONDO:0017345 True follicular dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005767 MONDO:0000315 True gas gangrene commensal bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005768 MONDO:0000368 True gastrointestinal tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005770 MONDO:0004609 True genital herpes herpes simplex infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005771 MONDO:0001989 True geographic tongue atrophic glossitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005772 MONDO:0002312 True geotrichosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005773 MONDO:0005071 True Gerstmann syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005774 MONDO:0000314 True glanders primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005775 MONDO:0019214 True G6PD deficiency inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005776 MONDO:0004664 True gnathomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005777 MONDO:0000314 True granuloma inguinale primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005778 MONDO:0005994 True haemonchiasis trichostrongyloidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005783 MONDO:0001370 True hemopericardium pericardial effusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005784 MONDO:0005240 True hantavirus hemorrhagic fever with renal syndrome kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005787 MONDO:0000369 True hepatic tuberculosis abdominal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005787 MONDO:0005768 True hepatic tuberculosis gastrointestinal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005791 MONDO:0005108 True herpangina viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005802 MONDO:0004664 True hymenolepiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005803 MONDO:0019214 True hyperinsulinemic hypoglycemia inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005805 MONDO:0019147 True hypodermyiasis myiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005806 MONDO:0005517 True hypopharynx cancer pharynx cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005806 MONDO:0021358 True hypopharynx cancer neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005807 MONDO:0003783 True idiopathic CD4-positive T-lymphocytopenia lymphopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005814 MONDO:0002516 True intestinal cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005814 MONDO:0021118 True intestinal cancer intestinal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005815 MONDO:0001933 True pancreatic neuroendocrine neoplasm endocrine pancreas disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005815 MONDO:0021040 True pancreatic neuroendocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005815 MONDO:0024503 True pancreatic neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005817 MONDO:0001162 True Kluver-Bucy syndrome impulse control disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005819 MONDO:0002647 True laryngeal tuberculosis laryngitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005821 MONDO:0005714 True late congenital syphilis congenital syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005822 MONDO:0005976 True latent syphilis syphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005823 MONDO:0000314 True legionellosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005824 MONDO:0005823 True Legionnaires' disease legionellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005825 MONDO:0000314 True leptospirosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005826 MONDO:0002572 True lipid pneumonia aspiration pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005827 MONDO:0005148 True lipoatrophic diabetes type 2 diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005828 MONDO:0000314 True listeriosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005831 MONDO:0000368 True lymph node tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005831 MONDO:0004928 True lymph node tuberculosis lymph node disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005832 MONDO:0005833 True lymphangitis lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005834 MONDO:0005777 True lymphogranuloma venereum granuloma inguinale SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005835 MONDO:0000426 True Lynch syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005835 MONDO:0018630 True Lynch syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005836 MONDO:0002149 True male reproductive organ cancer reproductive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005836 MONDO:0024582 True male reproductive organ cancer male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005837 MONDO:0002131 True mandibular cancer jaw cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005838 MONDO:0016075 True mansonelliasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005842 MONDO:0005961 True maxillary sinusitis sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005843 MONDO:0003274 True mediastinal cancer thoracic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005843 MONDO:0021386 True mediastinal cancer neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005846 MONDO:0002312 True microsporidiosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005847 MONDO:0005275 True middle lobe syndrome lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005848 MONDO:0000368 True miliary tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005850 MONDO:0005108 True milker's nodule viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005852 MONDO:0003767 True mitral valve stenosis mitral valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005853 MONDO:0004992 True malignant mixed neoplasm cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005853 MONDO:0021043 True malignant mixed neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005854 MONDO:0016663 True mixed connective tissue disease overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005855 MONDO:0005108 True molluscum contagiosum viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005858 MONDO:0004957 True mucinous cystadenocarcinoma mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005864 MONDO:0000637 True muscle cancer musculoskeletal system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005865 MONDO:0017853 True mushroom workers' lung hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005866 MONDO:0000314 True mycobacterium avium complex disease primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005872 MONDO:0004992 True nervous system cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005872 MONDO:0021248 True nervous system cancer nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005873 MONDO:0005657 True neuroaspergillosis aspergillosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005874 MONDO:0015254 True neuroschistosomiasis schistosomiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005875 MONDO:0005108 True Newcastle disease viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005881 MONDO:0005917 True oligohydramnios placenta disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005706 MONDO:0000308 True coccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005707 MONDO:0002428 True coccidiosis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005708 MONDO:0006009 True Colorado tick fever viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005710 MONDO:0005062 True composite lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005711 MONDO:0005728 True congenital diaphragmatic hernia diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005712 MONDO:0004843 True congenital nystagmus pathologic nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005714 MONDO:0005976 True congenital syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005714 MONDO:0016511 True congenital syphilis infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005715 MONDO:0005989 True congenital toxoplasmosis toxoplasmosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005715 MONDO:0016511 True congenital toxoplasmosis infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005717 MONDO:0005108 True contagious pustular dermatitis viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005723 MONDO:0006764 True Cryptococcal meningitis fungal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005724 MONDO:0002312 True cryptococcosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005725 MONDO:0005707 True cyclosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005729 MONDO:0004664 True dicrocoeliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005731 MONDO:0016075 True dipetalonemiasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005736 MONDO:0006009 True eastern equine encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005737 MONDO:0018087 True Ebola hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005739 MONDO:0004664 True echinostomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005742 MONDO:0002155 True emphysematous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005743 MONDO:0005846 True encephalitozoonosis microsporidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005749 MONDO:0005249 True eosinophilic pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005751 MONDO:0005108 True epidemic pleurodynia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005753 MONDO:0004867 True epiglottitis upper respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005754 MONDO:0000415 True epilepsy with generalized tonic-clonic seizures adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005756 MONDO:0005961 True ethmoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005757 MONDO:0002040 True eumycotic mycetoma dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005758 MONDO:0002146 True eunuchism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005759 MONDO:0004664 True fascioloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005761 MONDO:0016075 True filarial elephantiasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005764 MONDO:0004380 True follicular dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005764 MONDO:0017345 True follicular dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005767 MONDO:0000315 True gas gangrene commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005768 MONDO:0000368 True gastrointestinal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005770 MONDO:0004609 True genital herpes herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005771 MONDO:0001989 True geographic tongue atrophic glossitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005772 MONDO:0002312 True geotrichosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005773 MONDO:0005071 True Gerstmann syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005774 MONDO:0000314 True glanders primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005775 MONDO:0019214 True G6PD deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005776 MONDO:0004664 True gnathomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005777 MONDO:0000314 True granuloma inguinale primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005778 MONDO:0005994 True haemonchiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005783 MONDO:0001370 True hemopericardium pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005784 MONDO:0005240 True hantavirus hemorrhagic fever with renal syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005787 MONDO:0000369 True hepatic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005787 MONDO:0005768 True hepatic tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005791 MONDO:0005108 True herpangina viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005802 MONDO:0004664 True hymenolepiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005803 MONDO:0019214 True hyperinsulinemic hypoglycemia inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005805 MONDO:0019147 True hypodermyiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005806 MONDO:0005517 True hypopharynx cancer pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005806 MONDO:0021358 True hypopharynx cancer neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005807 MONDO:0003783 True idiopathic CD4-positive T-lymphocytopenia lymphopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005814 MONDO:0002516 True intestinal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005814 MONDO:0021118 True intestinal cancer intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005815 MONDO:0001933 True pancreatic neuroendocrine neoplasm endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005815 MONDO:0021040 True pancreatic neuroendocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005815 MONDO:0024503 True pancreatic neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005817 MONDO:0001162 True Kluver-Bucy syndrome impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005819 MONDO:0002647 True laryngeal tuberculosis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005821 MONDO:0005714 True late congenital syphilis congenital syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005822 MONDO:0005976 True latent syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005823 MONDO:0000314 True legionellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005824 MONDO:0005823 True Legionnaires' disease legionellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005825 MONDO:0000314 True leptospirosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005826 MONDO:0002572 True lipid pneumonia aspiration pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005827 MONDO:0005148 True lipoatrophic diabetes type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005828 MONDO:0000314 True listeriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005831 MONDO:0000368 True lymph node tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005831 MONDO:0004928 True lymph node tuberculosis lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005832 MONDO:0005833 True lymphangitis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005834 MONDO:0005777 True lymphogranuloma venereum granuloma inguinale UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005835 MONDO:0000426 True Lynch syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005835 MONDO:0018630 True Lynch syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005836 MONDO:0002149 True male reproductive organ cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005836 MONDO:0024582 True male reproductive organ cancer male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005837 MONDO:0002131 True mandibular cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005838 MONDO:0016075 True mansonelliasis filariasis SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005842 MONDO:0005961 True maxillary sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005843 MONDO:0003274 True mediastinal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005843 MONDO:0021386 True mediastinal cancer neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005846 MONDO:0002312 True microsporidiosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005847 MONDO:0005275 True middle lobe syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005848 MONDO:0000368 True miliary tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005850 MONDO:0005108 True milker's nodule viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005852 MONDO:0003767 True mitral valve stenosis mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005853 MONDO:0004992 True malignant mixed neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005853 MONDO:0021043 True malignant mixed neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005854 MONDO:0016663 True mixed connective tissue disease overlapping connective tissue disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005855 MONDO:0005108 True molluscum contagiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005858 MONDO:0004957 True mucinous cystadenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005864 MONDO:0000637 True muscle cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005865 MONDO:0017853 True mushroom workers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005866 MONDO:0000314 True mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005872 MONDO:0004992 True nervous system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005872 MONDO:0021248 True nervous system cancer nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005873 MONDO:0005657 True neuroaspergillosis aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005874 MONDO:0015254 True neuroschistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005875 MONDO:0005108 True Newcastle disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005881 MONDO:0005917 True oligohydramnios placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005884 MONDO:0004664 True opisthorchiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005885 MONDO:0002135 True optic neuritis optic nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005886 MONDO:0002026 True oral candidiasis candidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005886 MONDO:0006858 True oral candidiasis mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005887 MONDO:0005768 True oral tuberculosis gastrointestinal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005887 MONDO:0006858 True oral tuberculosis mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005888 MONDO:0000314 True ornithosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005890 MONDO:0000837 True osteitis fibrosa bone resorption disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005891 MONDO:0005994 True ostertagiasis trichostrongyloidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005893 MONDO:0002120 True pancreatic endocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005893 MONDO:0005815 True pancreatic endocrine carcinoma pancreatic neuroendocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005893 MONDO:0006181 True pancreatic endocrine carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005893 MONDO:0009831 True pancreatic endocrine carcinoma malignant pancreatic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005894 MONDO:0000308 True paracoccidioidomycosis primary systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005895 MONDO:0004664 True paragonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005898 MONDO:0002884 True paronychia nail disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005899 MONDO:0001142 True parotid disorder salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005900 MONDO:0005899 True parotitis parotid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005901 MONDO:0005113 True pasteurellosis bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005903 MONDO:0000368 True pericardial tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005904 MONDO:0000474 True pericarditis pericardium disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005885 MONDO:0002135 True optic neuritis optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005886 MONDO:0002026 True oral candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005886 MONDO:0006858 True oral candidiasis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005887 MONDO:0005768 True oral tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005887 MONDO:0006858 True oral tuberculosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005888 MONDO:0000314 True ornithosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005890 MONDO:0000837 True osteitis fibrosa bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005891 MONDO:0005994 True ostertagiasis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005893 MONDO:0002120 True pancreatic endocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005893 MONDO:0005815 True pancreatic endocrine carcinoma pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005893 MONDO:0006181 True pancreatic endocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005893 MONDO:0009831 True pancreatic endocrine carcinoma malignant pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005894 MONDO:0000308 True paracoccidioidomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005895 MONDO:0004664 True paragonimiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005898 MONDO:0002884 True paronychia nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005899 MONDO:0001142 True parotid disorder salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005900 MONDO:0005899 True parotitis parotid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005901 MONDO:0005113 True pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005903 MONDO:0000368 True pericardial tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005904 MONDO:0000474 True pericarditis pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005905 MONDO:0003406 True periodic limb movement disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005907 MONDO:0002254 True persian gulf syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005910 MONDO:0003778 True phagocyte bactericidal dysfunction inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005911 MONDO:0005108 True pharyngoconjunctival fever viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005912 MONDO:0002491 True phencyclidine abuse substance abuse SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005915 MONDO:0024268 True pityriasis versicolor superficial mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005916 MONDO:0005917 True placenta accreta placenta disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005917 MONDO:0002654 True placenta disorder uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005918 MONDO:0005917 True placenta praevia placenta disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005919 MONDO:0005917 True placental insufficiency placenta disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005920 MONDO:0005136 True Plasmodium falciparum malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005921 MONDO:0005136 True Plasmodium vivax malaria malaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005922 MONDO:0000368 True pleural tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005928 MONDO:0000945 True post-thrombotic syndrome venous insufficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005929 MONDO:0002050 True postpartum depression depressive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005933 MONDO:0005565 True pulmonary blastoma blastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005933 MONDO:0006279 True pulmonary blastoma lung sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005907 MONDO:0002254 True persian gulf syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005910 MONDO:0003778 True phagocyte bactericidal dysfunction inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005911 MONDO:0005108 True pharyngoconjunctival fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005912 MONDO:0002491 True phencyclidine abuse substance abuse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005915 MONDO:0024268 True pityriasis versicolor superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005916 MONDO:0005917 True placenta accreta placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005917 MONDO:0002654 True placenta disorder uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005918 MONDO:0005917 True placenta praevia placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005919 MONDO:0005917 True placental insufficiency placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005920 MONDO:0005136 True Plasmodium falciparum malaria malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005921 MONDO:0005136 True Plasmodium vivax malaria malaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005922 MONDO:0000368 True pleural tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005928 MONDO:0000945 True post-thrombotic syndrome venous insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005929 MONDO:0002050 True postpartum depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005933 MONDO:0005565 True pulmonary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005933 MONDO:0006279 True pulmonary blastoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005937 MONDO:0003406 True REM sleep behavior disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005938 MONDO:0005240 True renal tuberculosis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005938 MONDO:0006002 True renal tuberculosis urogenital tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005941 MONDO:0004992 True retroperitoneal cancer cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005941 MONDO:0024645 True retroperitoneal cancer retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005942 MONDO:0002254 True Reye syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005945 MONDO:0000314 True rhinoscleroma primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005946 MONDO:0000307 True rhinosporidiosis parasitic Ichthyosporea infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005953 MONDO:0004970 True scirrhous adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005954 MONDO:0019147 True screw worm infectious disease myiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005938 MONDO:0005240 True renal tuberculosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005938 MONDO:0006002 True renal tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005941 MONDO:0004992 True retroperitoneal cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005941 MONDO:0024645 True retroperitoneal cancer retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005942 MONDO:0002254 True Reye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005945 MONDO:0000314 True rhinoscleroma primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005946 MONDO:0000307 True rhinosporidiosis parasitic Ichthyosporea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005953 MONDO:0004970 True scirrhous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005954 MONDO:0019147 True screw worm infectious disease myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005956 MONDO:0019095 True septicemic plague plague SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005957 MONDO:0016075 True setariasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005959 MONDO:0017853 True sick building syndrome hypersensitivity pneumonitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005960 MONDO:0015926 True silicosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005961 MONDO:0001735 True sinusitis paranasal sinus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005962 MONDO:0000368 True skeletal tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005964 MONDO:0005961 True sphenoid sinusitis sinusitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005965 MONDO:0000836 True spinal stenosis disease of bone structure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005966 MONDO:0000612 True spleen cancer lymphatic system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005966 MONDO:0002516 True spleen cancer digestive system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005966 MONDO:0036696 True spleen cancer spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005967 MONDO:0000369 True splenic tuberculosis abdominal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005967 MONDO:0002332 True splenic tuberculosis splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005957 MONDO:0016075 True setariasis filariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005959 MONDO:0017853 True sick building syndrome hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005960 MONDO:0015926 True silicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005961 MONDO:0001735 True sinusitis paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005962 MONDO:0000368 True skeletal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005964 MONDO:0005961 True sphenoid sinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005965 MONDO:0000836 True spinal stenosis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005966 MONDO:0000612 True spleen cancer lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005966 MONDO:0002516 True spleen cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005966 MONDO:0036696 True spleen cancer spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005967 MONDO:0000369 True splenic tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005967 MONDO:0002332 True splenic tuberculosis splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005968 MONDO:0002041 True sporotrichosis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005971 MONDO:0000314 True staphyloenterotoxemia primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005972 MONDO:0004652 True streptococcal pneumonia bacterial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005975 MONDO:0005441 True suppurative otitis media otitis media SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005976 MONDO:0000314 True syphilis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005977 MONDO:0004944 True tabes dorsalis neurosyphilis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005978 MONDO:0002428 True theileriasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005979 MONDO:0005385 True thoracic outlet syndrome vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005980 MONDO:0002875 True tick infestation parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005981 MONDO:0005980 True tick paralysis tick infestation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005971 MONDO:0000314 True staphyloenterotoxemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005972 MONDO:0004652 True streptococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005975 MONDO:0005441 True suppurative otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005976 MONDO:0000314 True syphilis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005977 MONDO:0004944 True tabes dorsalis neurosyphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005978 MONDO:0002428 True theileriasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005979 MONDO:0005385 True thoracic outlet syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005980 MONDO:0002875 True tick infestation parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005981 MONDO:0005980 True tick paralysis tick infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005984 MONDO:0004678 True tinea pedis dermatophytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005989 MONDO:0005707 True toxoplasmosis coccidiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005990 MONDO:0002567 True tracheitis tracheal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005991 MONDO:0005664 True trench fever bartonellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005993 MONDO:0002154 True Trichomonas vaginitis urogenital infection trichomoniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005993 MONDO:0021681 True Trichomonas vaginitis urogenital infection sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0005994 MONDO:0004664 True trichostrongyloidiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005995 MONDO:0005994 True trichostrongylosis trichostrongyloidiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005997 MONDO:0000471 True tricuspid valve stenosis tricuspid valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005998 MONDO:0004389 True trombiculiasis mite infestation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005999 MONDO:0018667 True tuberculous empyema pleural empyema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006000 MONDO:0000369 True tuberculous peritonitis abdominal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006000 MONDO:0005768 True tuberculous peritonitis gastrointestinal tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006001 MONDO:0006026 True urinary schistosomiasis urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006001 MONDO:0015254 True urinary schistosomiasis schistosomiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006002 MONDO:0000368 True urogenital tuberculosis extrapulmonary tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006003 MONDO:0002715 True uterine corpus cancer uterine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006003 MONDO:0021254 True uterine corpus cancer corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006006 MONDO:0002979 True verrucous carcinoma papillary squamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006007 MONDO:0001926 True vesicoureteral reflux ureteral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006008 MONDO:0001563 True vestibular neuronitis vestibulocochlear nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006011 MONDO:0002251 True viral hepatitis hepatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006012 MONDO:0005249 True viral pneumonia pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006015 MONDO:0019801 True Waterhouse-Friderichsen syndrome acute adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006018 MONDO:0002254 True Wissler syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006021 MONDO:0005356 True Prinzmetal angina coronary vasospasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006025 MONDO:0000429 True autosomal recessive disease autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006026 MONDO:0002118 True urinary bladder disorder urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006028 MONDO:0002271 True cecum adenocarcinoma colon adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006028 MONDO:0006029 True cecum adenocarcinoma cecum carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006029 MONDO:0002032 True cecum carcinoma colon carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006029 MONDO:0002033 True cecum carcinoma cecum cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006030 MONDO:0006032 True chronic cystitis cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006032 MONDO:0006026 True cystitis urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006034 MONDO:0006074 True gastric adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006035 MONDO:0005036 True gastric tubular adenocarcinoma gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006035 MONDO:0005606 True gastric tubular adenocarcinoma tubular adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006036 MONDO:0006055 True granulosa cell tumor sex cord-stromal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006037 MONDO:0006025 True hydrolethalus syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006041 MONDO:0005369 True lung carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006041 MONDO:0005454 True lung carcinoid tumor lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006043 MONDO:0006256 True metaplastic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006045 MONDO:0000548 True ovarian clear cell adenocarcinoma ovarian clear cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006045 MONDO:0002752 True ovarian clear cell adenocarcinoma ovarian adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006045 MONDO:0005004 True ovarian clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006046 MONDO:0002702 True ovarian serous cystadenocarcinoma ovarian cystadenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006046 MONDO:0005211 True ovarian serous cystadenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006046 MONDO:0024621 True ovarian serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006047 MONDO:0004970 True pancreatic adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006047 MONDO:0005192 True pancreatic adenocarcinoma exocrine pancreatic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006049 MONDO:0002512 True papillary lung adenocarcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006049 MONDO:0005061 True papillary lung adenocarcinoma lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006050 MONDO:0004953 True pleomorphic breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006052 MONDO:0005087 True pulmonary tuberculosis respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006052 MONDO:0018076 True pulmonary tuberculosis tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006053 MONDO:0001572 True renal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006053 MONDO:0002513 True renal leiomyoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006054 MONDO:0005039 True reproductive system neoplasm reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006054 MONDO:0005070 True reproductive system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006055 MONDO:0006054 True sex cord-stromal tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006056 MONDO:0005096 True squamous cell breast carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006056 MONDO:0006043 True squamous cell breast carcinoma metaplastic breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006058 MONDO:0005564 True Wilms tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006058 MONDO:0005853 True Wilms tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006059 MONDO:0003212 True nasal cavity squamous cell carcinoma nasal cavity carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006059 MONDO:0010150 True nasal cavity squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006060 MONDO:0010150 True nasopharyngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006066 MONDO:0002493 True acinar prostate adenocarcinoma, foamy gland variant prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006067 MONDO:0002493 True acinar prostate mucinous adenocarcinoma prostatic acinar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006067 MONDO:0004957 True acinar prostate mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006068 MONDO:0006373 True ACTH-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006069 MONDO:0017582 True ACTH-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006073 MONDO:0021445 True adenomatoid odontogenic tumor benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006074 MONDO:0005096 True adenosquamous carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006076 MONDO:0003606 True adrenal gland neuroblastoma adrenal medulla cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006076 MONDO:0005872 True adrenal gland neuroblastoma nervous system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006078 MONDO:0005062 True AIDS-related primary central nervous system lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006079 MONDO:0002038 True ameloblastic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006079 MONDO:0021192 True ameloblastic carcinoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006081 MONDO:0001879 True anal melanoma anus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006082 MONDO:0003199 True anal squamous cell carcinoma anal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006085 MONDO:0005106 True angiolipoma lipoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006086 MONDO:0044335 True angiomyxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006087 MONDO:0003196 True appendix adenocarcinoma appendix carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006091 MONDO:0015066 True appendix neuroendocrine tumor G1 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006092 MONDO:0006088 True appendix villous adenoma appendix adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006093 MONDO:0006155 True ascending colon neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006094 MONDO:0018271 True Askin tumor peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006095 MONDO:0005369 True atypical carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006097 MONDO:0021354 True atypical lipomatous tumor tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006098 MONDO:0002486 True atypical lobular breast hyperplasia lobular neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006098 MONDO:0005043 True atypical lobular breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006102 MONDO:0004993 True basaloid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0004974 True benign adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006104 MONDO:0021053 True benign carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006105 MONDO:0020204 True benign conjunctival neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006105 MONDO:0021454 True benign conjunctival neoplasm benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006106 MONDO:0003061 True benign smooth muscle neoplasm benign muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006106 MONDO:0006975 True benign smooth muscle neoplasm smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006107 MONDO:0015074 True benign thyroid gland neoplasm thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006108 MONDO:0006180 True bile duct adenoma digestive system adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006108 MONDO:0021662 True bile duct adenoma bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006109 MONDO:0006292 True malignant biphasic mesothelioma malignant mesothelioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006111 MONDO:0004987 True bladder flat intraepithelial lesion urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006112 MONDO:0004987 True bladder inflammatory myofibroblastic tumor urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006112 MONDO:0015798 True bladder inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006115 MONDO:0011996 True blast phase chronic myelogenous leukemia, BCR-ABL1 positive chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006116 MONDO:0004989 True breast carcinoma by gene expression profile breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006117 MONDO:0003661 True breast diffuse large B-cell lymphoma breast lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006117 MONDO:0018905 True breast diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006118 MONDO:0003724 True breast fibrosis non-proliferative fibrocystic change of the breast SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006119 MONDO:0007650 True breast mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006121 MONDO:0005165 True calcifying fibrous tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006123 MONDO:0021450 True cardiac rhabdomyoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006123 MONDO:0036688 True cardiac rhabdomyoma rhabdomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006126 MONDO:0005694 True cecum neuroendocrine tumor G1 cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006126 MONDO:0006155 True cecum neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006128 MONDO:0020325 True central nervous system anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006128 MONDO:0020633 True central nervous system anaplastic large cell lymphoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006128 MONDO:0044887 True central nervous system anaplastic large cell lymphoma central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006130 MONDO:0002602 True central nervous system neoplasm central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006130 MONDO:0021248 True central nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006131 MONDO:0002913 True cerebellar liponeurocytoma cerebellar neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006133 MONDO:0004971 True cervical adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006134 MONDO:0006074 True cervical adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006135 MONDO:0005004 True cervical clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006135 MONDO:0005153 True cervical clear cell adenocarcinoma cervical adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006137 MONDO:0022394 True cervical intraepithelial neoplasia grade 2/3 cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006138 MONDO:0005057 True cervical large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006138 MONDO:0005131 True cervical large cell neuroendocrine carcinoma cervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006140 MONDO:0002742 True cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006141 MONDO:0002742 True cervical villoglandular adenocarcinoma cervical mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006141 MONDO:0003204 True cervical villoglandular adenocarcinoma villous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006142 MONDO:0000402 True cervical small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006142 MONDO:0005131 True cervical small cell carcinoma cervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006143 MONDO:0005096 True cervical squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006143 MONDO:0005131 True cervical squamous cell carcinoma cervical carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006144 MONDO:0002974 True cervical Wilms tumor cervical cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006144 MONDO:0006058 True cervical Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006145 MONDO:0008978 True chondroid chordoma chordoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006149 MONDO:0021091 True clear cell papillary cystadenoma papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006150 MONDO:0002035 True colon Burkitt lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006150 MONDO:0007243 True colon Burkitt lymphoma Burkitt lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006154 MONDO:0002035 True colon mucosa-associated lymphoid tissue lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006155 MONDO:0006162 True colon neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006155 MONDO:0015067 True colon neuroendocrine tumor G1 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006156 MONDO:0000527 True colon sessile serrated adenoma/polyp colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006156 MONDO:0006164 True colon sessile serrated adenoma/polyp colorectal sessile serrated adenoma/polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006156 MONDO:0021400 True colon sessile serrated adenoma/polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006157 MONDO:0006074 True colorectal adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006158 MONDO:0018905 True colorectal diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006158 MONDO:0024656 True colorectal diffuse large B-cell lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006159 MONDO:0005335 True colorectal gastrointestinal stromal tumor colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006162 MONDO:0005335 True colorectal neuroendocrine tumor G1 colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006162 MONDO:0021533 True colorectal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006163 MONDO:0005008 True colorectal serrated adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006164 MONDO:0005484 True colorectal sessile serrated adenoma/polyp colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006165 MONDO:0005096 True colorectal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006165 MONDO:0024331 True colorectal squamous cell carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006166 MONDO:0005043 True columnar cell hyperplasia of the breast hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006167 MONDO:0002120 True combined lung carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006167 MONDO:0005138 True combined lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006167 MONDO:0005454 True combined lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006167 MONDO:0005853 True combined lung carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006170 MONDO:0005328 True conjunctival disorder eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006172 MONDO:0005073 True conjunctival nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006172 MONDO:0006105 True conjunctival nevus benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006173 MONDO:0002466 True conjunctival squamous cell carcinoma eye carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006173 MONDO:0003454 True conjunctival squamous cell carcinoma conjunctival cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006174 MONDO:0003924 True cortisol-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006176 MONDO:0004993 True cribriform carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006178 MONDO:0016238 True dedifferentiated solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006179 MONDO:0017795 True desmoplastic ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006180 MONDO:0004972 True digestive system adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006180 MONDO:0021223 True digestive system adenoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006181 MONDO:0002516 True digestive system carcinoma digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006181 MONDO:0004993 True digestive system carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006182 MONDO:0006181 True digestive system mixed adenoneuroendocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006183 MONDO:0000650 True disseminated peritoneal leiomyomatosis peritoneal benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006183 MONDO:0003295 True disseminated peritoneal leiomyomatosis leiomyomatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006184 MONDO:0004658 True ductal breast carcinoma in situ and lobular carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006186 MONDO:0003198 True duodenal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006186 MONDO:0021335 True duodenal adenocarcinoma carcinoma of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006187 MONDO:0000502 True duodenal villous adenoma villous adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006187 MONDO:0021303 True duodenal villous adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006187 MONDO:0021375 True duodenal villous adenoma tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006188 MONDO:0005169 True EBV-positive T-cell lymphoproliferative disorder of childhood neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006189 MONDO:0024240 True eccrine porocarcinoma eccrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006190 MONDO:0021096 True endolymphatic sac tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006190 MONDO:0024320 True endolymphatic sac tumor inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006191 MONDO:0005004 True endometrial clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006191 MONDO:0005461 True endometrial clear cell adenocarcinoma endometrium adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006192 MONDO:0005026 True endometrial endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006195 MONDO:0004701 True endometrial polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006196 MONDO:0005278 True endometrial serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006197 MONDO:0000402 True endometrial small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006197 MONDO:0002447 True endometrial small cell carcinoma endometrial carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006198 MONDO:0002447 True endometrial squamous cell carcinoma endometrial carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006198 MONDO:0005096 True endometrial squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006199 MONDO:0002447 True endometrial undifferentiated carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006199 MONDO:0005617 True endometrial undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006200 MONDO:0002973 True epithelioid cell uveal melanoma epithelioid cell melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006200 MONDO:0006486 True epithelioid cell uveal melanoma uveal melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006201 MONDO:0001763 True ethmoid sinus adenoid cystic carcinoma ethmoid sinus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006201 MONDO:0006352 True ethmoid sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006203 MONDO:0003090 True extrahepatic bile duct squamous cell carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006206 MONDO:0002158 True fallopian tube carcinoma fallopian tube cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006206 MONDO:0004993 True fallopian tube carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006207 MONDO:0002928 True fallopian tube carcinosarcoma carcinosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006208 MONDO:0002746 True fallopian tube serous adenocarcinoma fallopian tube adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006208 MONDO:0005278 True fallopian tube serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006209 MONDO:0002616 True fibroblastic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006210 MONDO:0007256 True fibrolamellar hepatocellular carcinoma hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006213 MONDO:0021343 True floor of mouth mucoepidermoid carcinoma carcinoma of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006213 MONDO:0044964 True floor of mouth mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006214 MONDO:0004970 True follicular variant thyroid gland papillary carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006215 MONDO:0003220 True gallbladder adenocarcinoma gallbladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006215 MONDO:0004970 True gallbladder adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006216 MONDO:0006180 True gallbladder adenoma digestive system adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006216 MONDO:0021253 True gallbladder adenoma gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006216 MONDO:0021416 True gallbladder adenoma polyp of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006217 MONDO:0006074 True gallbladder adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006218 MONDO:0021253 True gallbladder biliary intraepithelial neoplasia gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006219 MONDO:0000402 True gallbladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006219 MONDO:0003220 True gallbladder small cell neuroendocrine carcinoma gallbladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006219 MONDO:0024502 True gallbladder small cell neuroendocrine carcinoma gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006220 MONDO:0003220 True gallbladder squamous cell carcinoma gallbladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006220 MONDO:0005096 True gallbladder squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006221 MONDO:0006180 True gastric adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006221 MONDO:0008277 True gastric adenoma stomach polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006221 MONDO:0021085 True gastric adenoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006222 MONDO:0003112 True gastric choriocarcinoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006222 MONDO:0003578 True gastric choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006222 MONDO:0005207 True gastric choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006223 MONDO:0018905 True gastric diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006225 MONDO:0018876 True gastric mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006226 MONDO:0007650 True gastric mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006226 MONDO:0042493 True gastric mucosa-associated lymphoid tissue lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006227 MONDO:0005369 True gastric neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006227 MONDO:0015062 True gastric neuroendocrine tumor G1 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006228 MONDO:0002512 True gastric papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006228 MONDO:0005036 True gastric papillary adenocarcinoma gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006229 MONDO:0000402 True gastric small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006229 MONDO:0003111 True gastric small cell neuroendocrine carcinoma gastric neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006229 MONDO:0004950 True gastric small cell neuroendocrine carcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006230 MONDO:0004950 True gastric squamous cell carcinoma gastric carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006230 MONDO:0005096 True gastric squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006233 MONDO:0002601 True gonadal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006234 MONDO:0004647 True grade III prostatic intraepithelial neoplasia in situ carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006234 MONDO:0005159 True grade III prostatic intraepithelial neoplasia prostate carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006234 MONDO:0005193 True grade III prostatic intraepithelial neoplasia prostate intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006235 MONDO:0002547 True granular cell tumor nerve sheath neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006237 MONDO:0006861 True granulocytic sarcoma myeloid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006238 MONDO:0006373 True growth hormone-producing pituitary gland adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006239 MONDO:0000448 True head and neck paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006239 MONDO:0005586 True head and neck paraganglioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006243 MONDO:0004970 True hepatoid adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006244 MONDO:0006116 True HER2 positive breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006245 MONDO:0005004 True hidradenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006245 MONDO:0005524 True hidradenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006246 MONDO:0002628 True high grade surface osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006247 MONDO:0015757 True histiocytic and dendritic cell neoplasm lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006247 MONDO:0044881 True histiocytic and dendritic cell neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006250 MONDO:0000540 True ileal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006250 MONDO:0015065 True ileal neuroendocrine tumor G1 ileal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006254 MONDO:0004970 True intestinal type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006255 MONDO:0002927 True intimal sarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006255 MONDO:0018078 True intimal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006256 MONDO:0004989 True invasive breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006256 MONDO:0040677 True invasive breast carcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006257 MONDO:0000540 True jejunal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006257 MONDO:0015064 True jejunal neuroendocrine tumor G1 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006260 MONDO:0005086 True kidney medullary carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006262 MONDO:0002475 True lacrimal gland adenoid cystic carcinoma lacrimal gland adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006262 MONDO:0004971 True lacrimal gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006264 MONDO:0002358 True laryngeal adenoid cystic carcinoma laryngeal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006264 MONDO:0004971 True laryngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006265 MONDO:0000402 True laryngeal small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006265 MONDO:0002038 True laryngeal small cell carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006265 MONDO:0002358 True laryngeal small cell carcinoma laryngeal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006265 MONDO:0015070 True laryngeal small cell carcinoma laryngeal neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006266 MONDO:0006055 True Leydig cell tumor sex cord-stromal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006267 MONDO:0002404 True liver cavernous hemangioma liver hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006267 MONDO:0003155 True liver cavernous hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006268 MONDO:0004695 True liver diffuse large B-cell lymphoma liver lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006268 MONDO:0018905 True liver diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006270 MONDO:0002486 True lobular breast carcinoma in situ lobular neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006270 MONDO:0003218 True lobular breast carcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006270 MONDO:0004988 True lobular breast carcinoma in situ breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006271 MONDO:0009807 True low grade central osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006272 MONDO:0005164 True low grade fibromyxoid sarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006273 MONDO:0006272 True low grade fibromyxoid sarcoma with giant collagen rosettes low grade fibromyxoid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006274 MONDO:0005198 True low grade vulvar intraepithelial neoplasia vulvar intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006275 MONDO:0006279 True lung giant cell carcinoma lung sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006276 MONDO:0015798 True lung inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006277 MONDO:0011705 True lung lymphangioleiomyomatosis lymphangioleiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006277 MONDO:0020588 True lung lymphangioleiomyomatosis lung PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006278 MONDO:0002363 True lung papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006278 MONDO:0002732 True lung papilloma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006279 MONDO:0006406 True lung sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006281 MONDO:0005061 True lung signet ring cell carcinoma lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006284 MONDO:0000521 True major salivary gland carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006284 MONDO:0044743 True major salivary gland carcinoma major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006285 MONDO:0006284 True major salivary gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006285 MONDO:0006403 True major salivary gland carcinoma ex pleomorphic adenoma salivary gland carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006286 MONDO:0006284 True major salivary gland mucoepidermoid carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006286 MONDO:0021009 True major salivary gland mucoepidermoid carcinoma salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006287 MONDO:0002402 True malignancy in giant cell tumor of bone malignant giant cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006287 MONDO:0021054 True malignancy in giant cell tumor of bone bone sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006288 MONDO:0004974 True malignant adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006288 MONDO:0021089 True malignant adrenal gland pheochromocytoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006290 MONDO:0004992 True malignant germ cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006290 MONDO:0005040 True malignant germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0021064 True malignant jugulotympanic paraganglioma jugulotympanic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0021069 True malignant jugulotympanic paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0021089 True malignant jugulotympanic paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006292 MONDO:0004992 True malignant mesothelioma cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006294 MONDO:0003274 True pleural cancer thoracic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006294 MONDO:0021065 True pleural cancer pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006295 MONDO:0004992 True malignant urinary system neoplasm cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006295 MONDO:0021066 True malignant urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006297 MONDO:0001748 True maxillary sinus adenoid cystic carcinoma maxillary sinus carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006297 MONDO:0006352 True maxillary sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006298 MONDO:0003113 True mediastinal malignant germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006298 MONDO:0005843 True mediastinal malignant germ cell tumor mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006298 MONDO:0021067 True mediastinal malignant germ cell tumor mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006300 MONDO:0007959 True medullomyoblastoma with myogenic differentiation medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006301 MONDO:0002395 True metanephric adenoma renal adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006302 MONDO:0004970 True micropapillary serous carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006303 MONDO:0003190 True middle ear squamous cell carcinoma middle ear carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006303 MONDO:0010150 True middle ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006304 MONDO:0004970 True minor salivary gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006304 MONDO:0045069 True minor salivary gland adenocarcinoma minor salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006306 MONDO:0004988 True mixed lobular and ductal breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006307 MONDO:0004972 True mixed somatotroph-lactotroph pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006309 MONDO:0004957 True mucinous gastric adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006309 MONDO:0005036 True mucinous gastric adenocarcinoma gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006312 MONDO:0003342 True myofibroma benign perivascular tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006316 MONDO:0005462 True neuroblastic tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006317 MONDO:0002547 True neurothekeoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006320 MONDO:0005105 True non-cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006321 MONDO:0003924 True non-functioning adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006321 MONDO:0021119 True non-functioning adrenal cortex adenoma non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006324 MONDO:0006116 True normal breast-like subtype of breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006325 MONDO:0002236 True ocular melanoma ocular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006325 MONDO:0005105 True ocular melanoma melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006326 MONDO:0006325 True ocular melanoma with extraocular extension ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006327 MONDO:0002466 True ocular sebaceous carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006327 MONDO:0006962 True ocular sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006329 MONDO:0002433 True olfactory neuroblastoma malignant cranial nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006329 MONDO:0002722 True olfactory neuroblastoma olfactory nerve neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006329 MONDO:0002749 True olfactory neuroblastoma extracranial neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006330 MONDO:0037745 True ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006335 MONDO:0002752 True ovarian endometrioid adenocarcinoma ovarian adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006335 MONDO:0003812 True ovarian endometrioid adenocarcinoma ovarian endometrial cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006335 MONDO:0005026 True ovarian endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006336 MONDO:0006335 True ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006337 MONDO:0005133 True ovarian endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0006337 MONDO:0005558 True ovarian endometriosis ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006339 MONDO:0024387 True ovarian microcystic stromal tumor benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006340 MONDO:0000646 True ovarian serous adenofibroma ovarian benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006340 MONDO:0024886 True ovarian serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006343 MONDO:0005140 True ovarian transitional cell carcinoma ovarian carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006343 MONDO:0006474 True ovarian transitional cell carcinoma transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006344 MONDO:0005744 True ovarian yolk sac tumor yolk sac tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006344 MONDO:0016096 True ovarian yolk sac tumor malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006345 MONDO:0016037 True palmar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006346 MONDO:0004965 True pancreatic acinar cell carcinoma acinar cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006346 MONDO:0006047 True pancreatic acinar cell carcinoma pancreatic adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006347 MONDO:0005057 True pancreatic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006347 MONDO:0005893 True pancreatic large cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006348 MONDO:0000402 True pancreatic small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006348 MONDO:0005893 True pancreatic small cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006349 MONDO:0021077 True papillary cystic neoplasm cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006349 MONDO:0021096 True papillary cystic neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006350 MONDO:0006474 True papillary transitional cell carcinoma transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006350 MONDO:0006509 True papillary transitional cell carcinoma papillary carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006351 MONDO:0002380 True parachordoma myoepithelial tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006352 MONDO:0000380 True paranasal sinus adenoid cystic carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006352 MONDO:0004971 True paranasal sinus adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006353 MONDO:0005289 True paranasal sinus Schneiderian papilloma paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006353 MONDO:0021078 True paranasal sinus Schneiderian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006355 MONDO:0004965 True parotid gland acinic cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006355 MONDO:0021331 True parotid gland acinic cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006356 MONDO:0021331 True parotid gland adenoid cystic carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006356 MONDO:0045063 True parotid gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006357 MONDO:0006285 True parotid gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006357 MONDO:0021331 True parotid gland carcinoma ex pleomorphic adenoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006358 MONDO:0021331 True parotid gland squamous cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006358 MONDO:0044740 True parotid gland squamous cell carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006359 MONDO:0006424 True neoplasm with perivascular epithelioid cell differentiation soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006360 MONDO:0001325 True penile carcinoma penile cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006360 MONDO:0004993 True penile carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006361 MONDO:0016037 True penile fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006362 MONDO:0006901 True peritoneal mesothelioma peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006363 MONDO:0006362 True peritoneal multicystic mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006364 MONDO:0003688 True peritoneal well differentiated papillary mesothelioma well differentiated papillary mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006364 MONDO:0006362 True peritoneal well differentiated papillary mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006367 MONDO:0002038 True pharyngeal adenoid cystic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006367 MONDO:0004971 True pharyngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006367 MONDO:0005517 True pharyngeal adenoid cystic carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006367 MONDO:0021345 True pharyngeal adenoid cystic carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006368 MONDO:0005070 True phosphaturic mesenchymal tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006369 MONDO:0024890 True pineal parenchymal tumor of intermediate differentiation pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006372 MONDO:0003257 True pituicytoma posterior pituitary gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006372 MONDO:0016685 True pituicytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006373 MONDO:0004972 True pituitary gland adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006373 MONDO:0017611 True pituitary gland adenoma pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006374 MONDO:0002178 True placental choriocarcinoma placenta cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006374 MONDO:0020550 True placental choriocarcinoma gestational choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006375 MONDO:0006500 True placental hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006375 MONDO:0021498 True placental hemangioma benign neoplasm of placenta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006377 MONDO:0006109 True pleural biphasic mesothelioma malignant biphasic mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006378 MONDO:0005112 True pleural epithelioid mesothelioma malignant pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006378 MONDO:0005599 True pleural epithelioid mesothelioma malignant epithelioid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006380 MONDO:0005112 True pleural sarcomatoid mesothelioma malignant pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006380 MONDO:0006407 True pleural sarcomatoid mesothelioma sarcomatoid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006381 MONDO:0017795 True plexiform ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006382 MONDO:0004970 True poorly differentiated thyroid gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006383 MONDO:0018905 True primary cutaneous diffuse large B-cell lymphoma, Leg type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006385 MONDO:0010150 True primary intraosseous squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006386 MONDO:0015686 True primary peritoneal serous adenocarcinoma primary peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006387 MONDO:0018905 True primary pulmonary diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006387 MONDO:0020644 True primary pulmonary diffuse large B-cell lymphoma lung non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006388 MONDO:0017582 True prolactin-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006389 MONDO:0002854 True prostate rhabdomyosarcoma prostate sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006389 MONDO:0005212 True prostate rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006390 MONDO:0000402 True prostate small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006390 MONDO:0002477 True prostate small cell carcinoma prostate neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006390 MONDO:0005159 True prostate small cell carcinoma prostate carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006391 MONDO:0006221 True pyloric gland adenoma gastric adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006393 MONDO:0000530 True rectal traditional serrated adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006394 MONDO:0000530 True rectal tubular adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006394 MONDO:0024660 True rectal tubular adenoma tubular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006395 MONDO:0000530 True rectal tubulovillous adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006395 MONDO:0024662 True rectal tubulovillous adenoma colorectal tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006396 MONDO:0000502 True rectal villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006396 MONDO:0000530 True rectal villous adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006397 MONDO:0005549 True renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006398 MONDO:0015798 True retroperitoneal inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006398 MONDO:0024645 True retroperitoneal inflammatory myofibroblastic tumor retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006400 MONDO:0004965 True salivary gland acinic cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006401 MONDO:0006074 True salivary gland adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006402 MONDO:0004970 True salivary gland basal cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006403 MONDO:0000521 True salivary gland carcinoma ex pleomorphic adenoma salivary gland carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006403 MONDO:0002472 True salivary gland carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006404 MONDO:0000521 True salivary gland large cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006404 MONDO:0005232 True salivary gland large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006405 MONDO:0000402 True salivary gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006405 MONDO:0000521 True salivary gland small cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006406 MONDO:0004993 True sarcomatoid carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006406 MONDO:0020633 True sarcomatoid carcinoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006407 MONDO:0006292 True sarcomatoid mesothelioma malignant mesothelioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006408 MONDO:0003924 True sex hormone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006409 MONDO:0005036 True signet ring cell gastric adenocarcinoma gastric adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006409 MONDO:0005092 True signet ring cell gastric adenocarcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006411 MONDO:0005617 True sinonasal undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006412 MONDO:0015531 True sinus histiocytosis with massive lymphadenopathy non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006414 MONDO:0003363 True skin sarcoma malignant dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006414 MONDO:0018078 True skin sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006416 MONDO:0001852 True small intestinal Burkitt lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006416 MONDO:0007243 True small intestinal Burkitt lymphoma Burkitt lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006417 MONDO:0001852 True small intestinal diffuse large B-cell lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006417 MONDO:0018905 True small intestinal diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006418 MONDO:0001852 True small intestinal enteropathy-associated T-cell lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006418 MONDO:0019473 True small intestinal enteropathy-associated T-cell lymphoma enteropathy-associated T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006419 MONDO:0004251 True small intestinal intraepithelial neoplasia small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006419 MONDO:0024474 True small intestinal intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006420 MONDO:0001852 True small intestinal mucosa-associated lymphoid tissue lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006420 MONDO:0007650 True small intestinal mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006421 MONDO:0021303 True small intestinal tubular adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006421 MONDO:0024660 True small intestinal tubular adenoma tubular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006422 MONDO:0021303 True small intestinal tubulovillous adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006422 MONDO:0024661 True small intestinal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006423 MONDO:0002360 True soft tissue chondroma chondroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006423 MONDO:0044335 True soft tissue chondroma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006424 MONDO:0044334 True soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006426 MONDO:0000640 True spinal cord primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006426 MONDO:0003544 True spinal cord primitive neuroectodermal tumor spinal cord cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006427 MONDO:0005105 True spindle cell melanoma melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006428 MONDO:0018905 True splenic diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006429 MONDO:0004952 True splenic hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006430 MONDO:0018876 True splenic mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006432 MONDO:0019004 True stromal predominant kidney Wilms tumor kidney Wilms tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006435 MONDO:0004724 True submandibular gland adenocarcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006435 MONDO:0004970 True submandibular gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006436 MONDO:0004724 True submandibular gland adenoid cystic carcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006436 MONDO:0045063 True submandibular gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006438 MONDO:0044334 True synovial chondromatosis connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006442 MONDO:0005167 True tendon sheath fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006444 MONDO:0002601 True teratoma with malignant transformation teratoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006446 MONDO:0002874 True testicular embryonal carcinoma testicular pure germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006446 MONDO:0003403 True testicular embryonal carcinoma testicular non-seminomatous germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006446 MONDO:0005440 True testicular embryonal carcinoma embryonal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006446 MONDO:0005564 True testicular embryonal carcinoma embryonal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006447 MONDO:0010108 True testicular non-seminomatous germ cell tumor testicular germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006451 MONDO:0002586 True thymic carcinoma thymus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006451 MONDO:0004993 True thymic carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006451 MONDO:0018079 True thymic carcinoma thymic epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006452 MONDO:0006406 True thymic sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006452 MONDO:0006451 True thymic sarcomatoid carcinoma thymic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006455 MONDO:0005617 True thymic undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006455 MONDO:0006451 True thymic undifferentiated carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006456 MONDO:0018079 True thymoma thymic epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006458 MONDO:0016974 True thymoma type B3 thymoma type B SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006459 MONDO:0016974 True thymoma type B1 thymoma type B SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006462 MONDO:0018905 True thyroid gland diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006462 MONDO:0019962 True thyroid gland diffuse large B-cell lymphoma thyroid lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006463 MONDO:0003036 True thyroid gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006464 MONDO:0007650 True thyroid gland mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006465 MONDO:0004970 True thyroid gland oncocytic follicular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006466 MONDO:0015075 True thyroid gland spindle cell tumor with thymus-like differentiation thyroid gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006467 MONDO:0015075 True thyroid gland squamous cell carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006468 MONDO:0005232 True thyroid gland undifferentiated (anaplastic) carcinoma large cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006468 MONDO:0005617 True thyroid gland undifferentiated (anaplastic) carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006468 MONDO:0015075 True thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006469 MONDO:0002422 True tibial adamantinoma adamantinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006471 MONDO:0003184 True tracheal adenoid cystic carcinoma trachea carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006471 MONDO:0004971 True tracheal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006474 MONDO:0004993 True transitional cell carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006476 MONDO:0003220 True undifferentiated gallbladder carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006476 MONDO:0005617 True undifferentiated gallbladder carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006477 MONDO:0005140 True undifferentiated ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006477 MONDO:0005617 True undifferentiated ovarian carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006478 MONDO:0005184 True undifferentiated pancreatic carcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006479 MONDO:0006478 True undifferentiated pancreatic carcinoma with osteoclast-like giant cells undifferentiated pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006480 MONDO:0002142 True undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006481 MONDO:0004993 True ureter carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006481 MONDO:0008627 True ureter carcinoma ureter cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006482 MONDO:0000402 True ureter small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006482 MONDO:0006481 True ureter small cell carcinoma ureter carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006484 MONDO:0004007 True usual ductal breast hyperplasia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006484 MONDO:0005043 True usual ductal breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006485 MONDO:0002715 True uterine carcinosarcoma uterine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006485 MONDO:0002928 True uterine carcinosarcoma carcinosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006486 MONDO:0002659 True uveal melanoma uveal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006486 MONDO:0006325 True uveal melanoma ocular melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006487 MONDO:0004971 True vaginal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006488 MONDO:0037746 True vaginal carcinosarcoma malignant vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006489 MONDO:0000544 True vaginal melanoma mucosal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006489 MONDO:0021050 True vaginal melanoma vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006490 MONDO:0001806 True vaginal squamous cell carcinoma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006490 MONDO:0005096 True vaginal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006490 MONDO:0015867 True vaginal squamous cell carcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006493 MONDO:0036976 True Warthin tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006497 MONDO:0006496 True cerebral palsy palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006498 MONDO:0000527 True adenomatous colon polyp colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006498 MONDO:0021400 True adenomatous colon polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006500 MONDO:0024286 True hemangioma benign blood vessel neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006504 MONDO:0005066 True acquired metabolic disease metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006505 MONDO:0011057 True basal ganglia cerebrovascular disorder cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006506 MONDO:0003689 True congenital nonspherocytic hemolytic anemia familial hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006507 MONDO:0004689 True hereditary hemochromatosis inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006509 MONDO:0004993 True papillary carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006509 MONDO:0021096 True papillary carcinoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006510 MONDO:0005240 True renal tubular transport disease kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006515 MONDO:0004982 True acute pancreatitis pancreatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006517 MONDO:0004992 True childhood malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006517 MONDO:0021079 True childhood malignant neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006519 MONDO:0002165 True rectal cancer rectal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006519 MONDO:0005575 True rectal cancer colorectal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006520 MONDO:0005093 True Achenbach syndrome skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006521 MONDO:0002406 True acneiform dermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006522 MONDO:0006566 True acquired keratosis keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006523 MONDO:0002406 True acrodermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006524 MONDO:0006523 True acrodermatitis chronica atrophicans acrodermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006525 MONDO:0005480 True allergic contact dermatitis contact dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005989 MONDO:0005707 True toxoplasmosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005990 MONDO:0002567 True tracheitis tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005991 MONDO:0005664 True trench fever bartonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005993 MONDO:0002154 True Trichomonas vaginitis urogenital infection trichomoniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005993 MONDO:0021681 True Trichomonas vaginitis urogenital infection sexually transmitted disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005994 MONDO:0004664 True trichostrongyloidiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005995 MONDO:0005994 True trichostrongylosis trichostrongyloidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005997 MONDO:0000471 True tricuspid valve stenosis tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005998 MONDO:0004389 True trombiculiasis mite infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005999 MONDO:0018667 True tuberculous empyema pleural empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006000 MONDO:0000369 True tuberculous peritonitis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006000 MONDO:0005768 True tuberculous peritonitis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006001 MONDO:0006026 True urinary schistosomiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006001 MONDO:0015254 True urinary schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006002 MONDO:0000368 True urogenital tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006003 MONDO:0002715 True uterine corpus cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006003 MONDO:0021254 True uterine corpus cancer corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006006 MONDO:0002979 True verrucous carcinoma papillary squamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006007 MONDO:0001926 True vesicoureteral reflux ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006008 MONDO:0001563 True vestibular neuronitis vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006011 MONDO:0002251 True viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006012 MONDO:0005249 True viral pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006015 MONDO:0019801 True Waterhouse-Friderichsen syndrome acute adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006018 MONDO:0002254 True Wissler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006021 MONDO:0005356 True Prinzmetal angina coronary vasospasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006025 MONDO:0000429 True autosomal recessive disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006026 MONDO:0002118 True urinary bladder disorder urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006028 MONDO:0002271 True cecum adenocarcinoma colon adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006028 MONDO:0006029 True cecum adenocarcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006029 MONDO:0002032 True cecum carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006029 MONDO:0002033 True cecum carcinoma cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006030 MONDO:0006032 True chronic cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006032 MONDO:0006026 True cystitis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006034 MONDO:0006074 True gastric adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006035 MONDO:0005036 True gastric tubular adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006035 MONDO:0005606 True gastric tubular adenocarcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006036 MONDO:0006055 True granulosa cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006037 MONDO:0006025 True hydrolethalus syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006041 MONDO:0005369 True lung carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006041 MONDO:0005454 True lung carcinoid tumor lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006043 MONDO:0006256 True metaplastic breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006045 MONDO:0000548 True ovarian clear cell adenocarcinoma ovarian clear cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006045 MONDO:0002752 True ovarian clear cell adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006045 MONDO:0005004 True ovarian clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006046 MONDO:0002702 True ovarian serous cystadenocarcinoma ovarian cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006046 MONDO:0005211 True ovarian serous cystadenocarcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006046 MONDO:0024621 True ovarian serous cystadenocarcinoma serous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006047 MONDO:0004970 True pancreatic adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006047 MONDO:0005192 True pancreatic adenocarcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006049 MONDO:0002512 True papillary lung adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006049 MONDO:0005061 True papillary lung adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006050 MONDO:0004953 True pleomorphic breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006052 MONDO:0005087 True pulmonary tuberculosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006052 MONDO:0018076 True pulmonary tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006053 MONDO:0001572 True renal leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006053 MONDO:0002513 True renal leiomyoma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006054 MONDO:0005039 True reproductive system neoplasm reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006054 MONDO:0005070 True reproductive system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006055 MONDO:0006054 True sex cord-stromal tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006056 MONDO:0005096 True squamous cell breast carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006056 MONDO:0006043 True squamous cell breast carcinoma metaplastic breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006058 MONDO:0005564 True Wilms tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006058 MONDO:0005853 True Wilms tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006059 MONDO:0003212 True nasal cavity squamous cell carcinoma nasal cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006059 MONDO:0010150 True nasal cavity squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006060 MONDO:0010150 True nasopharyngeal squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006066 MONDO:0002493 True acinar prostate adenocarcinoma, foamy gland variant prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006067 MONDO:0002493 True acinar prostate mucinous adenocarcinoma prostatic acinar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006067 MONDO:0004957 True acinar prostate mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006068 MONDO:0006373 True ACTH-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006069 MONDO:0017582 True ACTH-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006073 MONDO:0021445 True adenomatoid odontogenic tumor benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006074 MONDO:0005096 True adenosquamous carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006076 MONDO:0003606 True adrenal gland neuroblastoma adrenal medulla cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006076 MONDO:0005872 True adrenal gland neuroblastoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006078 MONDO:0005062 True AIDS-related primary central nervous system lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006079 MONDO:0002038 True ameloblastic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006079 MONDO:0021192 True ameloblastic carcinoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006081 MONDO:0001879 True anal melanoma anus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006082 MONDO:0003199 True anal squamous cell carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006085 MONDO:0005106 True angiolipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006086 MONDO:0044335 True angiomyxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006087 MONDO:0003196 True appendix adenocarcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006091 MONDO:0015066 True appendix neuroendocrine tumor G1 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006092 MONDO:0006088 True appendix villous adenoma appendix adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006093 MONDO:0006155 True ascending colon neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006094 MONDO:0018271 True Askin tumor peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006095 MONDO:0005369 True atypical carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006097 MONDO:0021354 True atypical lipomatous tumor tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006098 MONDO:0002486 True atypical lobular breast hyperplasia lobular neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006098 MONDO:0005043 True atypical lobular breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006102 MONDO:0004993 True basaloid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0004974 True benign adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006104 MONDO:0021053 True benign carotid body paraganglioma carotid body paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006105 MONDO:0020204 True benign conjunctival neoplasm conjunctival tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006105 MONDO:0021454 True benign conjunctival neoplasm benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006106 MONDO:0003061 True benign smooth muscle neoplasm benign muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006106 MONDO:0006975 True benign smooth muscle neoplasm smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006107 MONDO:0015074 True benign thyroid gland neoplasm thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006108 MONDO:0006180 True bile duct adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006108 MONDO:0021662 True bile duct adenoma bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006109 MONDO:0006292 True malignant biphasic mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006111 MONDO:0004987 True bladder flat intraepithelial lesion urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006112 MONDO:0004987 True bladder inflammatory myofibroblastic tumor urinary bladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006112 MONDO:0015798 True bladder inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006115 MONDO:0011996 True blast phase chronic myelogenous leukemia, BCR-ABL1 positive chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006116 MONDO:0004989 True breast carcinoma by gene expression profile breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006117 MONDO:0003661 True breast diffuse large B-cell lymphoma breast lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006117 MONDO:0018905 True breast diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006118 MONDO:0003724 True breast fibrosis non-proliferative fibrocystic change of the breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006119 MONDO:0007650 True breast mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006121 MONDO:0005165 True calcifying fibrous tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006123 MONDO:0021450 True cardiac rhabdomyoma benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006123 MONDO:0036688 True cardiac rhabdomyoma rhabdomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006126 MONDO:0005694 True cecum neuroendocrine tumor G1 cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006126 MONDO:0006155 True cecum neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006128 MONDO:0020325 True central nervous system anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006128 MONDO:0020633 True central nervous system anaplastic large cell lymphoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006128 MONDO:0044887 True central nervous system anaplastic large cell lymphoma central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006130 MONDO:0002602 True central nervous system neoplasm central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006130 MONDO:0021248 True central nervous system neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006131 MONDO:0002913 True cerebellar liponeurocytoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006133 MONDO:0004971 True cervical adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006134 MONDO:0006074 True cervical adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006135 MONDO:0005004 True cervical clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006135 MONDO:0005153 True cervical clear cell adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006137 MONDO:0022394 True cervical intraepithelial neoplasia grade 2/3 cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006138 MONDO:0005057 True cervical large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006138 MONDO:0005131 True cervical large cell neuroendocrine carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006140 MONDO:0002742 True cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006141 MONDO:0002742 True cervical villoglandular adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006141 MONDO:0003204 True cervical villoglandular adenocarcinoma villous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006142 MONDO:0000402 True cervical small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006142 MONDO:0005131 True cervical small cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006143 MONDO:0005096 True cervical squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006143 MONDO:0005131 True cervical squamous cell carcinoma cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006144 MONDO:0002974 True cervical Wilms tumor cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006144 MONDO:0006058 True cervical Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006145 MONDO:0008978 True chondroid chordoma chordoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006149 MONDO:0021091 True clear cell papillary cystadenoma papillary cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006150 MONDO:0002035 True colon Burkitt lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006150 MONDO:0007243 True colon Burkitt lymphoma Burkitt lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006154 MONDO:0002035 True colon mucosa-associated lymphoid tissue lymphoma colon lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006155 MONDO:0006162 True colon neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006155 MONDO:0015067 True colon neuroendocrine tumor G1 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006156 MONDO:0000527 True colon sessile serrated adenoma/polyp colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006156 MONDO:0006164 True colon sessile serrated adenoma/polyp colorectal sessile serrated adenoma/polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006156 MONDO:0021400 True colon sessile serrated adenoma/polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006157 MONDO:0006074 True colorectal adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006158 MONDO:0018905 True colorectal diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006158 MONDO:0024656 True colorectal diffuse large B-cell lymphoma colorectal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006159 MONDO:0005335 True colorectal gastrointestinal stromal tumor colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006162 MONDO:0005335 True colorectal neuroendocrine tumor G1 colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006162 MONDO:0021533 True colorectal neuroendocrine tumor G1 intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006163 MONDO:0005008 True colorectal serrated adenocarcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006164 MONDO:0005484 True colorectal sessile serrated adenoma/polyp colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006165 MONDO:0005096 True colorectal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006165 MONDO:0024331 True colorectal squamous cell carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006166 MONDO:0005043 True columnar cell hyperplasia of the breast hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006167 MONDO:0002120 True combined lung carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006167 MONDO:0005138 True combined lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006167 MONDO:0005454 True combined lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006167 MONDO:0005853 True combined lung carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006170 MONDO:0005328 True conjunctival disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006172 MONDO:0005073 True conjunctival nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006172 MONDO:0006105 True conjunctival nevus benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006173 MONDO:0002466 True conjunctival squamous cell carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006173 MONDO:0003454 True conjunctival squamous cell carcinoma conjunctival cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006174 MONDO:0003924 True cortisol-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006176 MONDO:0004993 True cribriform carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006178 MONDO:0016238 True dedifferentiated solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006179 MONDO:0017795 True desmoplastic ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006180 MONDO:0004972 True digestive system adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006180 MONDO:0021223 True digestive system adenoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006181 MONDO:0002516 True digestive system carcinoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006181 MONDO:0004993 True digestive system carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006182 MONDO:0006181 True digestive system mixed adenoneuroendocrine carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006183 MONDO:0000650 True disseminated peritoneal leiomyomatosis peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006183 MONDO:0003295 True disseminated peritoneal leiomyomatosis leiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006184 MONDO:0004658 True ductal breast carcinoma in situ and lobular carcinoma in situ breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006186 MONDO:0003198 True duodenal adenocarcinoma small intestine adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006186 MONDO:0021335 True duodenal adenocarcinoma carcinoma of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006187 MONDO:0000502 True duodenal villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006187 MONDO:0021303 True duodenal villous adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006187 MONDO:0021375 True duodenal villous adenoma tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006188 MONDO:0005169 True EBV-positive T-cell lymphoproliferative disorder of childhood neoplasm of mature T-cells or NK-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006189 MONDO:0024240 True eccrine porocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006190 MONDO:0021096 True endolymphatic sac tumor papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006190 MONDO:0024320 True endolymphatic sac tumor inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006191 MONDO:0005004 True endometrial clear cell adenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006191 MONDO:0005461 True endometrial clear cell adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006192 MONDO:0005026 True endometrial endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006195 MONDO:0004701 True endometrial polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006196 MONDO:0005278 True endometrial serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006197 MONDO:0000402 True endometrial small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006197 MONDO:0002447 True endometrial small cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006198 MONDO:0002447 True endometrial squamous cell carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006198 MONDO:0005096 True endometrial squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006199 MONDO:0002447 True endometrial undifferentiated carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006199 MONDO:0005617 True endometrial undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006200 MONDO:0002973 True epithelioid cell uveal melanoma epithelioid cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006200 MONDO:0006486 True epithelioid cell uveal melanoma uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006201 MONDO:0001763 True ethmoid sinus adenoid cystic carcinoma ethmoid sinus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006201 MONDO:0006352 True ethmoid sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006203 MONDO:0003090 True extrahepatic bile duct squamous cell carcinoma extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006206 MONDO:0002158 True fallopian tube carcinoma fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006206 MONDO:0004993 True fallopian tube carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006207 MONDO:0002928 True fallopian tube carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006208 MONDO:0002746 True fallopian tube serous adenocarcinoma fallopian tube adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006208 MONDO:0005278 True fallopian tube serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006209 MONDO:0002616 True fibroblastic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006210 MONDO:0007256 True fibrolamellar hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006213 MONDO:0021343 True floor of mouth mucoepidermoid carcinoma carcinoma of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006213 MONDO:0044964 True floor of mouth mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006214 MONDO:0004970 True follicular variant thyroid gland papillary carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006215 MONDO:0003220 True gallbladder adenocarcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006215 MONDO:0004970 True gallbladder adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006216 MONDO:0006180 True gallbladder adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006216 MONDO:0021253 True gallbladder adenoma gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006216 MONDO:0021416 True gallbladder adenoma polyp of gallbladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006217 MONDO:0006074 True gallbladder adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006218 MONDO:0021253 True gallbladder biliary intraepithelial neoplasia gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006219 MONDO:0000402 True gallbladder small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006219 MONDO:0003220 True gallbladder small cell neuroendocrine carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006219 MONDO:0024502 True gallbladder small cell neuroendocrine carcinoma gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006220 MONDO:0003220 True gallbladder squamous cell carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006220 MONDO:0005096 True gallbladder squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006221 MONDO:0006180 True gastric adenoma digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006221 MONDO:0008277 True gastric adenoma stomach polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006221 MONDO:0021085 True gastric adenoma gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006222 MONDO:0003112 True gastric choriocarcinoma malignant gastric germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006222 MONDO:0003578 True gastric choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006222 MONDO:0005207 True gastric choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006223 MONDO:0018905 True gastric diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006225 MONDO:0018876 True gastric mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006226 MONDO:0007650 True gastric mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006226 MONDO:0042493 True gastric mucosa-associated lymphoid tissue lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006227 MONDO:0005369 True gastric neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006227 MONDO:0015062 True gastric neuroendocrine tumor G1 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006228 MONDO:0002512 True gastric papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006228 MONDO:0005036 True gastric papillary adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006229 MONDO:0000402 True gastric small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006229 MONDO:0003111 True gastric small cell neuroendocrine carcinoma gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006229 MONDO:0004950 True gastric small cell neuroendocrine carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006230 MONDO:0004950 True gastric squamous cell carcinoma gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006230 MONDO:0005096 True gastric squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006233 MONDO:0002601 True gonadal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006234 MONDO:0004647 True grade III prostatic intraepithelial neoplasia in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006234 MONDO:0005159 True grade III prostatic intraepithelial neoplasia prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006234 MONDO:0005193 True grade III prostatic intraepithelial neoplasia prostate intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006235 MONDO:0002547 True granular cell tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006237 MONDO:0006861 True granulocytic sarcoma myeloid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006238 MONDO:0006373 True growth hormone-producing pituitary gland adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006239 MONDO:0000448 True head and neck paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006239 MONDO:0005586 True head and neck paraganglioma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006243 MONDO:0004970 True hepatoid adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006244 MONDO:0006116 True HER2 positive breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006245 MONDO:0005004 True hidradenocarcinoma clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006245 MONDO:0005524 True hidradenocarcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006246 MONDO:0002628 True high grade surface osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006247 MONDO:0015757 True histiocytic and dendritic cell neoplasm lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006247 MONDO:0044881 True histiocytic and dendritic cell neoplasm hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006250 MONDO:0000540 True ileal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006250 MONDO:0015065 True ileal neuroendocrine tumor G1 ileal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006254 MONDO:0004970 True intestinal type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006255 MONDO:0002927 True intimal sarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006255 MONDO:0018078 True intimal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006256 MONDO:0004989 True invasive breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006256 MONDO:0040677 True invasive breast carcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006257 MONDO:0000540 True jejunal neuroendocrine tumor G1 small intestinal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006257 MONDO:0015064 True jejunal neuroendocrine tumor G1 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006260 MONDO:0005086 True kidney medullary carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006262 MONDO:0002475 True lacrimal gland adenoid cystic carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006262 MONDO:0004971 True lacrimal gland adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006264 MONDO:0002358 True laryngeal adenoid cystic carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006264 MONDO:0004971 True laryngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006265 MONDO:0000402 True laryngeal small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006265 MONDO:0002038 True laryngeal small cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006265 MONDO:0002358 True laryngeal small cell carcinoma laryngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006265 MONDO:0015070 True laryngeal small cell carcinoma laryngeal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006266 MONDO:0006055 True Leydig cell tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006267 MONDO:0002404 True liver cavernous hemangioma liver hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006267 MONDO:0003155 True liver cavernous hemangioma cavernous hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006268 MONDO:0004695 True liver diffuse large B-cell lymphoma liver lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006268 MONDO:0018905 True liver diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006270 MONDO:0002486 True lobular breast carcinoma in situ lobular neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006270 MONDO:0003218 True lobular breast carcinoma in situ adenocarcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006270 MONDO:0004988 True lobular breast carcinoma in situ breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006271 MONDO:0009807 True low grade central osteosarcoma osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006272 MONDO:0005164 True low grade fibromyxoid sarcoma fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006273 MONDO:0006272 True low grade fibromyxoid sarcoma with giant collagen rosettes low grade fibromyxoid sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006274 MONDO:0005198 True low grade vulvar intraepithelial neoplasia vulvar intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006275 MONDO:0006279 True lung giant cell carcinoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006276 MONDO:0015798 True lung inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006277 MONDO:0011705 True lung lymphangioleiomyomatosis lymphangioleiomyomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006277 MONDO:0020588 True lung lymphangioleiomyomatosis lung PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006278 MONDO:0002363 True lung papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006278 MONDO:0002732 True lung papilloma lung benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006279 MONDO:0006406 True lung sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006281 MONDO:0005061 True lung signet ring cell carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006284 MONDO:0000521 True major salivary gland carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006284 MONDO:0044743 True major salivary gland carcinoma major salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006285 MONDO:0006284 True major salivary gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006285 MONDO:0006403 True major salivary gland carcinoma ex pleomorphic adenoma salivary gland carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006286 MONDO:0006284 True major salivary gland mucoepidermoid carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006286 MONDO:0021009 True major salivary gland mucoepidermoid carcinoma salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006287 MONDO:0002402 True malignancy in giant cell tumor of bone malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006287 MONDO:0021054 True malignancy in giant cell tumor of bone bone sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006288 MONDO:0004974 True malignant adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006288 MONDO:0021089 True malignant adrenal gland pheochromocytoma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006290 MONDO:0004992 True malignant germ cell tumor cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006290 MONDO:0005040 True malignant germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0021064 True malignant jugulotympanic paraganglioma jugulotympanic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0021069 True malignant jugulotympanic paraganglioma malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0021089 True malignant jugulotympanic paraganglioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006292 MONDO:0004992 True malignant mesothelioma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006294 MONDO:0003274 True pleural cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006294 MONDO:0021065 True pleural cancer pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006295 MONDO:0004992 True malignant urinary system neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006295 MONDO:0021066 True malignant urinary system neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006297 MONDO:0001748 True maxillary sinus adenoid cystic carcinoma maxillary sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006297 MONDO:0006352 True maxillary sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006298 MONDO:0003113 True mediastinal malignant germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006298 MONDO:0005843 True mediastinal malignant germ cell tumor mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006298 MONDO:0021067 True mediastinal malignant germ cell tumor mediastinal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006300 MONDO:0007959 True medullomyoblastoma with myogenic differentiation medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006301 MONDO:0002395 True metanephric adenoma renal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006302 MONDO:0004970 True micropapillary serous carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006303 MONDO:0003190 True middle ear squamous cell carcinoma middle ear carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006303 MONDO:0010150 True middle ear squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006304 MONDO:0004970 True minor salivary gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006304 MONDO:0045069 True minor salivary gland adenocarcinoma minor salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006306 MONDO:0004988 True mixed lobular and ductal breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006307 MONDO:0004972 True mixed somatotroph-lactotroph pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006309 MONDO:0004957 True mucinous gastric adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006309 MONDO:0005036 True mucinous gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006312 MONDO:0003342 True myofibroma benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006316 MONDO:0005462 True neuroblastic tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006317 MONDO:0002547 True neurothekeoma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006320 MONDO:0005105 True non-cutaneous melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006321 MONDO:0003924 True non-functioning adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006321 MONDO:0021119 True non-functioning adrenal cortex adenoma non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006324 MONDO:0006116 True normal breast-like subtype of breast carcinoma breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006325 MONDO:0002236 True ocular melanoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006325 MONDO:0005105 True ocular melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006326 MONDO:0006325 True ocular melanoma with extraocular extension ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006327 MONDO:0002466 True ocular sebaceous carcinoma eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006327 MONDO:0006962 True ocular sebaceous carcinoma sebaceous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006329 MONDO:0002433 True olfactory neuroblastoma malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006329 MONDO:0002722 True olfactory neuroblastoma olfactory nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006329 MONDO:0002749 True olfactory neuroblastoma extracranial neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006330 MONDO:0037745 True ossifying fibromyxoid tumor fibromyxoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006335 MONDO:0002752 True ovarian endometrioid adenocarcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006335 MONDO:0003812 True ovarian endometrioid adenocarcinoma ovarian endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006335 MONDO:0005026 True ovarian endometrioid adenocarcinoma endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006336 MONDO:0006335 True ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006337 MONDO:0005133 True ovarian endometriosis endometriosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006337 MONDO:0005558 True ovarian endometriosis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006339 MONDO:0024387 True ovarian microcystic stromal tumor benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006340 MONDO:0000646 True ovarian serous adenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006340 MONDO:0024886 True ovarian serous adenofibroma serous adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006343 MONDO:0005140 True ovarian transitional cell carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006343 MONDO:0006474 True ovarian transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006344 MONDO:0005744 True ovarian yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006344 MONDO:0016096 True ovarian yolk sac tumor malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006345 MONDO:0016037 True palmar fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006346 MONDO:0004965 True pancreatic acinar cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006346 MONDO:0006047 True pancreatic acinar cell carcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006347 MONDO:0005057 True pancreatic large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006347 MONDO:0005893 True pancreatic large cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006348 MONDO:0000402 True pancreatic small cell neuroendocrine carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006348 MONDO:0005893 True pancreatic small cell neuroendocrine carcinoma pancreatic endocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006349 MONDO:0021077 True papillary cystic neoplasm cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006349 MONDO:0021096 True papillary cystic neoplasm papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006350 MONDO:0006474 True papillary transitional cell carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006350 MONDO:0006509 True papillary transitional cell carcinoma papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006351 MONDO:0002380 True parachordoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006352 MONDO:0000380 True paranasal sinus adenoid cystic carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006352 MONDO:0004971 True paranasal sinus adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006353 MONDO:0005289 True paranasal sinus Schneiderian papilloma paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006353 MONDO:0021078 True paranasal sinus Schneiderian papilloma glandular papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006355 MONDO:0004965 True parotid gland acinic cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006355 MONDO:0021331 True parotid gland acinic cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006356 MONDO:0021331 True parotid gland adenoid cystic carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006356 MONDO:0045063 True parotid gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006357 MONDO:0006285 True parotid gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006357 MONDO:0021331 True parotid gland carcinoma ex pleomorphic adenoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006358 MONDO:0021331 True parotid gland squamous cell carcinoma carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006358 MONDO:0044740 True parotid gland squamous cell carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006359 MONDO:0006424 True neoplasm with perivascular epithelioid cell differentiation soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006360 MONDO:0001325 True penile carcinoma penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006360 MONDO:0004993 True penile carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006361 MONDO:0016037 True penile fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006362 MONDO:0006901 True peritoneal mesothelioma peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006363 MONDO:0006362 True peritoneal multicystic mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006364 MONDO:0003688 True peritoneal well differentiated papillary mesothelioma well differentiated papillary mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006364 MONDO:0006362 True peritoneal well differentiated papillary mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006367 MONDO:0002038 True pharyngeal adenoid cystic carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006367 MONDO:0004971 True pharyngeal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006367 MONDO:0005517 True pharyngeal adenoid cystic carcinoma pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006367 MONDO:0021345 True pharyngeal adenoid cystic carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006368 MONDO:0005070 True phosphaturic mesenchymal tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006369 MONDO:0024890 True pineal parenchymal tumor of intermediate differentiation pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006372 MONDO:0003257 True pituicytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006372 MONDO:0016685 True pituicytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006373 MONDO:0004972 True pituitary gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006373 MONDO:0017611 True pituitary gland adenoma pituitary tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006374 MONDO:0002178 True placental choriocarcinoma placenta cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006374 MONDO:0020550 True placental choriocarcinoma gestational choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006375 MONDO:0006500 True placental hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006375 MONDO:0021498 True placental hemangioma benign neoplasm of placenta UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006377 MONDO:0006109 True pleural biphasic mesothelioma malignant biphasic mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006378 MONDO:0005112 True pleural epithelioid mesothelioma malignant pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006378 MONDO:0005599 True pleural epithelioid mesothelioma malignant epithelioid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006380 MONDO:0005112 True pleural sarcomatoid mesothelioma malignant pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006380 MONDO:0006407 True pleural sarcomatoid mesothelioma sarcomatoid mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006381 MONDO:0017795 True plexiform ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006382 MONDO:0004970 True poorly differentiated thyroid gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006383 MONDO:0018905 True primary cutaneous diffuse large B-cell lymphoma, Leg type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006385 MONDO:0010150 True primary intraosseous squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006386 MONDO:0015686 True primary peritoneal serous adenocarcinoma primary peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006387 MONDO:0018905 True primary pulmonary diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006387 MONDO:0020644 True primary pulmonary diffuse large B-cell lymphoma lung non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006388 MONDO:0017582 True prolactin-producing pituitary gland carcinoma pituitary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006389 MONDO:0002854 True prostate rhabdomyosarcoma prostate sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006389 MONDO:0005212 True prostate rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006390 MONDO:0000402 True prostate small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006390 MONDO:0002477 True prostate small cell carcinoma prostate neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006390 MONDO:0005159 True prostate small cell carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006391 MONDO:0006221 True pyloric gland adenoma gastric adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006393 MONDO:0000530 True rectal traditional serrated adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006394 MONDO:0000530 True rectal tubular adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006394 MONDO:0024660 True rectal tubular adenoma tubular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006395 MONDO:0000530 True rectal tubulovillous adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006395 MONDO:0024662 True rectal tubulovillous adenoma colorectal tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006396 MONDO:0000502 True rectal villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006396 MONDO:0000530 True rectal villous adenoma rectum adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006397 MONDO:0005549 True renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006398 MONDO:0015798 True retroperitoneal inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006398 MONDO:0024645 True retroperitoneal inflammatory myofibroblastic tumor retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006400 MONDO:0004965 True salivary gland acinic cell carcinoma acinar cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006401 MONDO:0006074 True salivary gland adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006402 MONDO:0004970 True salivary gland basal cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006403 MONDO:0000521 True salivary gland carcinoma ex pleomorphic adenoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006403 MONDO:0002472 True salivary gland carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006404 MONDO:0000521 True salivary gland large cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006404 MONDO:0005232 True salivary gland large cell carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006405 MONDO:0000402 True salivary gland small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006405 MONDO:0000521 True salivary gland small cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006406 MONDO:0004993 True sarcomatoid carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006406 MONDO:0020633 True sarcomatoid carcinoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006407 MONDO:0006292 True sarcomatoid mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006408 MONDO:0003924 True sex hormone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006409 MONDO:0005036 True signet ring cell gastric adenocarcinoma gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006409 MONDO:0005092 True signet ring cell gastric adenocarcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006411 MONDO:0005617 True sinonasal undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006412 MONDO:0015531 True sinus histiocytosis with massive lymphadenopathy non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006414 MONDO:0003363 True skin sarcoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006414 MONDO:0018078 True skin sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006416 MONDO:0001852 True small intestinal Burkitt lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006416 MONDO:0007243 True small intestinal Burkitt lymphoma Burkitt lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006417 MONDO:0001852 True small intestinal diffuse large B-cell lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006417 MONDO:0018905 True small intestinal diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006418 MONDO:0001852 True small intestinal enteropathy-associated T-cell lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006418 MONDO:0019473 True small intestinal enteropathy-associated T-cell lymphoma enteropathy-associated T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006419 MONDO:0004251 True small intestinal intraepithelial neoplasia small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006419 MONDO:0024474 True small intestinal intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006420 MONDO:0001852 True small intestinal mucosa-associated lymphoid tissue lymphoma small intestine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006420 MONDO:0007650 True small intestinal mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006421 MONDO:0021303 True small intestinal tubular adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006421 MONDO:0024660 True small intestinal tubular adenoma tubular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006422 MONDO:0021303 True small intestinal tubulovillous adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006422 MONDO:0024661 True small intestinal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006423 MONDO:0002360 True soft tissue chondroma chondroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006423 MONDO:0044335 True soft tissue chondroma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006424 MONDO:0044334 True soft tissue neoplasm connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006426 MONDO:0000640 True spinal cord primitive neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006426 MONDO:0003544 True spinal cord primitive neuroectodermal tumor spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006427 MONDO:0005105 True spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006428 MONDO:0018905 True splenic diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006429 MONDO:0004952 True splenic hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006430 MONDO:0018876 True splenic mantle cell lymphoma mantle cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006432 MONDO:0019004 True stromal predominant kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006435 MONDO:0004724 True submandibular gland adenocarcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006435 MONDO:0004970 True submandibular gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006436 MONDO:0004724 True submandibular gland adenoid cystic carcinoma submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006436 MONDO:0045063 True submandibular gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006438 MONDO:0044334 True synovial chondromatosis connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006442 MONDO:0005167 True tendon sheath fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006444 MONDO:0002601 True teratoma with malignant transformation teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006446 MONDO:0002874 True testicular embryonal carcinoma testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006446 MONDO:0003403 True testicular embryonal carcinoma testicular non-seminomatous germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006446 MONDO:0005440 True testicular embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006446 MONDO:0005564 True testicular embryonal carcinoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006447 MONDO:0010108 True testicular non-seminomatous germ cell tumor testicular germ cell tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006451 MONDO:0002586 True thymic carcinoma thymus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006451 MONDO:0004993 True thymic carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006451 MONDO:0018079 True thymic carcinoma thymic epithelial neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006452 MONDO:0006406 True thymic sarcomatoid carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006452 MONDO:0006451 True thymic sarcomatoid carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006455 MONDO:0005617 True thymic undifferentiated carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006455 MONDO:0006451 True thymic undifferentiated carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006456 MONDO:0018079 True thymoma thymic epithelial neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006458 MONDO:0016974 True thymoma type B3 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006459 MONDO:0016974 True thymoma type B1 thymoma type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006462 MONDO:0018905 True thyroid gland diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006462 MONDO:0019962 True thyroid gland diffuse large B-cell lymphoma thyroid lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006463 MONDO:0003036 True thyroid gland mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006464 MONDO:0007650 True thyroid gland mucosa-associated lymphoid tissue lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006465 MONDO:0004970 True thyroid gland oncocytic follicular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006466 MONDO:0015075 True thyroid gland spindle cell tumor with thymus-like differentiation thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006467 MONDO:0015075 True thyroid gland squamous cell carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006468 MONDO:0005232 True thyroid gland undifferentiated (anaplastic) carcinoma large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006468 MONDO:0005617 True thyroid gland undifferentiated (anaplastic) carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006468 MONDO:0015075 True thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006469 MONDO:0002422 True tibial adamantinoma adamantinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006471 MONDO:0003184 True tracheal adenoid cystic carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006471 MONDO:0004971 True tracheal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006474 MONDO:0004993 True transitional cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006476 MONDO:0003220 True undifferentiated gallbladder carcinoma gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006476 MONDO:0005617 True undifferentiated gallbladder carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006477 MONDO:0005140 True undifferentiated ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006477 MONDO:0005617 True undifferentiated ovarian carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006478 MONDO:0005184 True undifferentiated pancreatic carcinoma pancreatic ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006479 MONDO:0006478 True undifferentiated pancreatic carcinoma with osteoclast-like giant cells undifferentiated pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006480 MONDO:0002142 True undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006481 MONDO:0004993 True ureter carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006481 MONDO:0008627 True ureter carcinoma ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006482 MONDO:0000402 True ureter small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006482 MONDO:0006481 True ureter small cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006484 MONDO:0004007 True usual ductal breast hyperplasia breast intraductal proliferative lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006484 MONDO:0005043 True usual ductal breast hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006485 MONDO:0002715 True uterine carcinosarcoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006485 MONDO:0002928 True uterine carcinosarcoma carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006486 MONDO:0002659 True uveal melanoma uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006486 MONDO:0006325 True uveal melanoma ocular melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006487 MONDO:0004971 True vaginal adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006488 MONDO:0037746 True vaginal carcinosarcoma malignant vaginal mixed epithelial and mesenchymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006489 MONDO:0000544 True vaginal melanoma mucosal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006489 MONDO:0021050 True vaginal melanoma vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006490 MONDO:0001806 True vaginal squamous cell carcinoma vaginal squamous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006490 MONDO:0005096 True vaginal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006490 MONDO:0015867 True vaginal squamous cell carcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006493 MONDO:0036976 True Warthin tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006497 MONDO:0006496 True cerebral palsy palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006498 MONDO:0000527 True adenomatous colon polyp colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006498 MONDO:0021400 True adenomatous colon polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006500 MONDO:0024286 True hemangioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006504 MONDO:0005066 True acquired metabolic disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006505 MONDO:0011057 True basal ganglia cerebrovascular disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006506 MONDO:0003689 True congenital nonspherocytic hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006507 MONDO:0004689 True hereditary hemochromatosis inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006509 MONDO:0004993 True papillary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006509 MONDO:0021096 True papillary carcinoma papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006510 MONDO:0005240 True renal tubular transport disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006515 MONDO:0004982 True acute pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006517 MONDO:0004992 True childhood malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006517 MONDO:0021079 True childhood malignant neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006519 MONDO:0002165 True rectal cancer rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006519 MONDO:0005575 True rectal cancer colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006520 MONDO:0005093 True Achenbach syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006521 MONDO:0002406 True acneiform dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006522 MONDO:0006566 True acquired keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006523 MONDO:0002406 True acrodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006524 MONDO:0006523 True acrodermatitis chronica atrophicans acrodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006525 MONDO:0005480 True allergic contact dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006526 MONDO:0005492 True allergic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006527 MONDO:0006615 True anhidrosis sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006528 MONDO:0006547 True bacterial exanthem exanthem SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006530 MONDO:0006566 True cholesteatoma keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006531 MONDO:0006533 True cholesteatoma of attic cholesteatoma of middle ear SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006527 MONDO:0006615 True anhidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006528 MONDO:0006547 True bacterial exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006530 MONDO:0006566 True cholesteatoma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006531 MONDO:0006533 True cholesteatoma of attic cholesteatoma of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006532 MONDO:0002776 True cholesteatoma of external ear external ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006532 MONDO:0006530 True cholesteatoma of external ear cholesteatoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006533 MONDO:0003276 True cholesteatoma of middle ear middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0006533 MONDO:0006530 True cholesteatoma of middle ear cholesteatoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006534 MONDO:0006599 True cholinergic urticaria physical urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006536 MONDO:0027766 True congenital generalized lipodystrophy generalized lipodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006539 MONDO:0006574 True diffuse lipomatosis lipomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006540 MONDO:0006615 True dyshidrosis sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006541 MONDO:0006617 True epidermolysis bullosa vesiculobullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006543 MONDO:0019276 True epidermolysis bullosa dystrophica inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006544 MONDO:0005108 True erythema infectiosum viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006544 MONDO:0006619 True erythema infectiosum viral exanthem SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006545 MONDO:0005093 True erythema multiforme skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006546 MONDO:0005093 True erythematosquamous dermatosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006547 MONDO:0005093 True exanthem skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006548 MONDO:0005093 True facial dermatosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006550 MONDO:0004184 True fibroepithelial polyp of urethra urethral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006551 MONDO:0006607 True alopecia mucinosa sebaceous gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006552 MONDO:0002406 True folliculitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006552 MONDO:0002917 True folliculitis disorder of pilosebaceous unit SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006553 MONDO:0006615 True Fox-Fordyce disease sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006554 MONDO:0002406 True granuloma annulare dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006555 MONDO:0002406 True granulomatous dermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006556 MONDO:0005093 True hand dermatosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006557 MONDO:0000652 True hemangioma of subcutaneous tissue integumentary system benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006557 MONDO:0006500 True hemangioma of subcutaneous tissue hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006558 MONDO:0006594 True pemphigoid gestationis pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006559 MONDO:0002260 True hidradenitis suppurativa hidradenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006561 MONDO:0003382 True eyelid hypopigmentation eyelid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006563 MONDO:0008420 True inverted follicular keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006564 MONDO:0005480 True irritant dermatitis contact dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006565 MONDO:0015614 True juvenile dermatitis herpetiformis dermatitis herpetiformis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006566 MONDO:0005093 True keratosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006569 MONDO:0005093 True leg dermatosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006570 MONDO:0005093 True lichen disease skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006571 MONDO:0006570 True lichen nitidus lichen disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006572 MONDO:0006570 True lichen planus lichen disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006574 MONDO:0044983 True lipomatosis benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006576 MONDO:0005230 True Ludwig's angina cellulitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006577 MONDO:0001735 True maxillary sinus cholesteatoma paranasal sinus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006577 MONDO:0006530 True maxillary sinus cholesteatoma cholesteatoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006578 MONDO:0006574 True mediastinal lipomatosis lipomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006579 MONDO:0008420 True melanoacanthoma seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006580 MONDO:0006615 True miliaria sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006581 MONDO:0006580 True miliaria rubra miliaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006582 MONDO:0005093 True mongolian spot skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006583 MONDO:0021154 True necrobiosis lipoidica dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006585 MONDO:0002406 True neurodermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006586 MONDO:0002406 True neurotic excoriation dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006589 MONDO:0005480 True occupational dermatitis contact dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006591 MONDO:0002051 True panniculitis integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006592 MONDO:0005083 True parapsoriasis psoriasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006594 MONDO:0019337 True pemphigus autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006596 MONDO:0006525 True photoallergic dermatitis allergic contact dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006598 MONDO:0006564 True phototoxic dermatitis irritant dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006599 MONDO:0005492 True physical urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006601 MONDO:0002406 True pityriasis rosea dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006602 MONDO:0006566 True porokeratosis keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006602 MONDO:0019268 True porokeratosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006603 MONDO:0005093 True reactive cutaneous fibrous lesion skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006604 MONDO:0005093 True rosacea skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006605 MONDO:0005093 True scalp dermatosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006607 MONDO:0005093 True sebaceous gland disorder skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006608 MONDO:0002406 True seborrheic dermatitis dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006609 MONDO:0006608 True seborrheic infantile dermatitis seborrheic dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006610 MONDO:0005093 True skin atrophy skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006611 MONDO:0005093 True skin sarcoidosis skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006611 MONDO:0019338 True skin sarcoidosis sarcoidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006612 MONDO:0006574 True steroid lipomatosis lipomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006614 MONDO:0019337 True subcorneal pustular dermatosis autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006615 MONDO:0005093 True sweat gland disorder skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006616 MONDO:0006525 True toxicodendron dermatitis allergic contact dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006617 MONDO:0005093 True vesiculobullous skin disease skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006618 MONDO:0006599 True vibratory urticaria physical urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006619 MONDO:0006547 True viral exanthem exanthem SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006621 MONDO:0006563 True vulvar inverted follicular keratosis inverted follicular keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006621 MONDO:0006622 True vulvar inverted follicular keratosis vulvar seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006622 MONDO:0002195 True vulvar seborrheic keratosis vulvar squamous neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006622 MONDO:0008420 True vulvar seborrheic keratosis seborrheic keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006624 MONDO:0006026 True overactive bladder urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006626 MONDO:0005244 True diabetic neuropathy peripheral neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006633 MONDO:0002155 True acalculous cholecystitis cholecystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006634 MONDO:0006373 True pituitary gland acidophil adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006637 MONDO:0002492 True acute kidney tubular necrosis acute kidney failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006638 MONDO:0002708 True acute retinal necrosis syndrome retinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006639 MONDO:0021312 True adrenal cortex carcinoma malignant tumor of adrenal cortex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006641 MONDO:0004566 True afferent loop syndrome postgastrectomy syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006643 MONDO:0002824 True alcoholic cardiomyopathy extrinsic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006644 MONDO:0005155 True alcoholic liver cirrhosis cirrhosis of liver SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006646 MONDO:0003342 True angioleiomyoma benign perivascular tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006647 MONDO:0002679 True anterior cerebral artery infarction cerebral infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006648 MONDO:0004001 True anterior compartment of tibia syndrome compartment syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006649 MONDO:0002135 True anterior ischemic optic neuropathy optic nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006650 MONDO:0000473 True anterior spinal artery syndrome arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006650 MONDO:0002254 True anterior spinal artery syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006651 MONDO:0020283 True anterior uveitis uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006652 MONDO:0005068 True anterolateral myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006653 MONDO:0015926 True anthracosilicosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006654 MONDO:0015926 True anthracosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006655 MONDO:0003803 True aortic valve prolapse aortic valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006656 MONDO:0005561 True aortitis aortic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006660 MONDO:0007004 True arthus reaction type III hypersensitivity disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006663 MONDO:0005087 True perinatal asphyxia respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006664 MONDO:0002078 True atrial septal defect heart septal defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006668 MONDO:0003799 True bacterial conjunctivitis conjunctivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006668 MONDO:0005113 True bacterial conjunctivitis bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006670 MONDO:0004796 True bacterial meningitis infectious meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006670 MONDO:0005113 True bacterial meningitis bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006672 MONDO:0002036 True balanitis penile disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006673 MONDO:0004805 True pituitary gland basophil adenoma leukocyte disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006673 MONDO:0006373 True pituitary gland basophil adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006677 MONDO:0004868 True bile reflux biliary tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006678 MONDO:0004828 True bladder calculus lower urinary tract calculus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006678 MONDO:0006026 True bladder calculus urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006679 MONDO:0006026 True bladder neck obstruction urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006680 MONDO:0005073 True blue nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006682 MONDO:0002122 True brachial plexus neuritis neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006682 MONDO:0006683 True brachial plexus neuritis brachial plexus neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006684 MONDO:0005560 True brain edema brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006686 MONDO:0005394 True brain stem infarction brain infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006687 MONDO:0006858 True burning mouth syndrome mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006688 MONDO:0015926 True byssinosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006690 MONDO:0002907 True carotid artery thrombosis intracranial thrombosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006690 MONDO:0005269 True carotid artery thrombosis carotid artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006692 MONDO:0002562 True central pontine myelinolysis demyelinating disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006693 MONDO:0006808 True cerebral arterial disease intracranial arterial disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006694 MONDO:0005311 True cerebral atherosclerosis atherosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006696 MONDO:0002256 True cervix erosion cervix disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006698 MONDO:0005281 True cholecystolithiasis gallbladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006699 MONDO:0002886 True choledocholithiasis common bile duct disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006700 MONDO:0002659 True choroid cancer uveal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006700 MONDO:0021258 True choroid cancer choroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006701 MONDO:0006373 True chromophobe adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006710 MONDO:0005384 True complex partial epilepsy focal epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006711 MONDO:0005904 True constrictive pericarditis pericarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006712 MONDO:0000942 True corneal edema corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006713 MONDO:0003085 True corneal neovascularization keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006715 MONDO:0005010 True coronary stenosis coronary artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006716 MONDO:0000831 True coronary thrombosis thrombotic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006716 MONDO:0005010 True coronary thrombosis coronary artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006717 MONDO:0002300 True cutaneous fibrous histiocytoma dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006717 MONDO:0002989 True cutaneous fibrous histiocytoma benign fibrous histiocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006721 MONDO:0006816 True de Quervain disease arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006722 MONDO:0006999 True dental fluorosis tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006723 MONDO:0004842 True denture stomatitis stomatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006726 MONDO:0005728 True diaphragmatic eventration diaphragm disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006727 MONDO:0005009 True diastolic heart failure congestive heart failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006729 MONDO:0006987 True discrete subaortic stenosis subvalvular aortic stenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006730 MONDO:0001423 True drug psychosis drug-induced mental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006730 MONDO:0004630 True drug psychosis substance-induced psychosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006731 MONDO:0005071 True drug-induced akathisia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006733 MONDO:0001854 True dry eye syndrome lacrimal apparatus disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006734 MONDO:0021375 True benign duodenal neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006734 MONDO:0021501 True benign duodenal neoplasm benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006735 MONDO:0002866 True duodenogastric reflux duodenal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006738 MONDO:0021489 True eccrine acrospiroma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006739 MONDO:0004989 True Ehrlich tumor carcinoma breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006740 MONDO:0003381 True empty sella syndrome pituitary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006741 MONDO:0005560 True encephalomalacia brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006742 MONDO:0006873 True endemic goiter nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006744 MONDO:0004900 True endolymphatic hydrops peripheral vertigo SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006745 MONDO:0003311 True endometrioid stromal sarcoma endometrial stromal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006745 MONDO:0005089 True endometrioid stromal sarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006745 MONDO:0011962 True endometrioid stromal sarcoma endometrial cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006746 MONDO:0005201 True endomyocardial fibrosis restrictive cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006749 MONDO:0005105 True mixed epithelioid and spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006754 MONDO:0003749 True esophageal diverticulosis esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006755 MONDO:0003240 True euthyroid sick syndrome thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0006757 MONDO:0001751 True extrahepatic cholestasis cholestasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006759 MONDO:0001397 True femoral neuropathy mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006760 MONDO:0001245 True fetal erythroblastosis microcytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006764 MONDO:0002041 True fungal meningitis fungal infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006764 MONDO:0004796 True fungal meningitis infectious meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006766 MONDO:0000665 True gait apraxia apraxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006767 MONDO:0001574 True gastric antral vascular ectasia capillary disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006769 MONDO:0001318 True gastroparesis functional gastric disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006770 MONDO:0005674 True giant cell reparative granuloma bone giant cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006771 MONDO:0001165 True glossitis tongue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006777 MONDO:0001165 True hairy tongue tongue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006778 MONDO:0005073 True halo nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006779 MONDO:0005267 True heart aneurysm heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006782 MONDO:0002654 True hemometra uterine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006783 MONDO:0002076 True hemopneumothorax pneumothorax SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006786 MONDO:0002405 True hepatic vein thrombosis hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006787 MONDO:0021489 True hidrocystoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006788 MONDO:0000365 True hydrophthalmos primary congenital glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006532 MONDO:0006530 True cholesteatoma of external ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006533 MONDO:0003276 True cholesteatoma of middle ear middle ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006533 MONDO:0006530 True cholesteatoma of middle ear cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006534 MONDO:0006599 True cholinergic urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006536 MONDO:0027766 True congenital generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006539 MONDO:0006574 True diffuse lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006540 MONDO:0006615 True dyshidrosis sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006541 MONDO:0006617 True epidermolysis bullosa vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006543 MONDO:0019276 True epidermolysis bullosa dystrophica inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006544 MONDO:0005108 True erythema infectiosum viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006544 MONDO:0006619 True erythema infectiosum viral exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006545 MONDO:0005093 True erythema multiforme skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006546 MONDO:0005093 True erythematosquamous dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006547 MONDO:0005093 True exanthem skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006548 MONDO:0005093 True facial dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006550 MONDO:0004184 True fibroepithelial polyp of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006551 MONDO:0006607 True alopecia mucinosa sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006552 MONDO:0002406 True folliculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006552 MONDO:0002917 True folliculitis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006553 MONDO:0006615 True Fox-Fordyce disease sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006554 MONDO:0002406 True granuloma annulare dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006555 MONDO:0002406 True granulomatous dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006556 MONDO:0005093 True hand dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006557 MONDO:0000652 True hemangioma of subcutaneous tissue integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006557 MONDO:0006500 True hemangioma of subcutaneous tissue hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006558 MONDO:0006594 True pemphigoid gestationis pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006559 MONDO:0002260 True hidradenitis suppurativa hidradenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006561 MONDO:0003382 True eyelid hypopigmentation eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006563 MONDO:0008420 True inverted follicular keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006564 MONDO:0005480 True irritant dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006565 MONDO:0015614 True juvenile dermatitis herpetiformis dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006566 MONDO:0005093 True keratosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006569 MONDO:0005093 True leg dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006570 MONDO:0005093 True lichen disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006571 MONDO:0006570 True lichen nitidus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006572 MONDO:0006570 True lichen planus lichen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006574 MONDO:0044983 True lipomatosis benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006576 MONDO:0005230 True Ludwig's angina cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006577 MONDO:0001735 True maxillary sinus cholesteatoma paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006577 MONDO:0006530 True maxillary sinus cholesteatoma cholesteatoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006578 MONDO:0006574 True mediastinal lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006579 MONDO:0008420 True melanoacanthoma seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006580 MONDO:0006615 True miliaria sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006581 MONDO:0006580 True miliaria rubra miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006582 MONDO:0005093 True mongolian spot skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006583 MONDO:0021154 True necrobiosis lipoidica dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006585 MONDO:0002406 True neurodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006586 MONDO:0002406 True neurotic excoriation dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006589 MONDO:0005480 True occupational dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006591 MONDO:0002051 True panniculitis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006592 MONDO:0005083 True parapsoriasis psoriasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006594 MONDO:0019337 True pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006596 MONDO:0006525 True photoallergic dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006598 MONDO:0006564 True phototoxic dermatitis irritant dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006599 MONDO:0005492 True physical urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006601 MONDO:0002406 True pityriasis rosea dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006602 MONDO:0006566 True porokeratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006602 MONDO:0019268 True porokeratosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006603 MONDO:0005093 True reactive cutaneous fibrous lesion skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006604 MONDO:0005093 True rosacea skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006605 MONDO:0005093 True scalp dermatosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006607 MONDO:0005093 True sebaceous gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006608 MONDO:0002406 True seborrheic dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006609 MONDO:0006608 True seborrheic infantile dermatitis seborrheic dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006610 MONDO:0005093 True skin atrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006611 MONDO:0005093 True skin sarcoidosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006611 MONDO:0019338 True skin sarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006612 MONDO:0006574 True steroid lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006614 MONDO:0019337 True subcorneal pustular dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006615 MONDO:0005093 True sweat gland disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006616 MONDO:0006525 True toxicodendron dermatitis allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006617 MONDO:0005093 True vesiculobullous skin disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006618 MONDO:0006599 True vibratory urticaria physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006619 MONDO:0006547 True viral exanthem exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006621 MONDO:0006563 True vulvar inverted follicular keratosis inverted follicular keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006621 MONDO:0006622 True vulvar inverted follicular keratosis vulvar seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006622 MONDO:0002195 True vulvar seborrheic keratosis vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006622 MONDO:0008420 True vulvar seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006624 MONDO:0006026 True overactive bladder urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006626 MONDO:0005244 True diabetic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006633 MONDO:0002155 True acalculous cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006634 MONDO:0006373 True pituitary gland acidophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006637 MONDO:0002492 True acute kidney tubular necrosis acute kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006638 MONDO:0002708 True acute retinal necrosis syndrome retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006639 MONDO:0021312 True adrenal cortex carcinoma malignant tumor of adrenal cortex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006641 MONDO:0004566 True afferent loop syndrome postgastrectomy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006643 MONDO:0002824 True alcoholic cardiomyopathy extrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006644 MONDO:0005155 True alcoholic liver cirrhosis cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006646 MONDO:0003342 True angioleiomyoma benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006647 MONDO:0002679 True anterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006648 MONDO:0004001 True anterior compartment of tibia syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006649 MONDO:0002135 True anterior ischemic optic neuropathy optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006650 MONDO:0000473 True anterior spinal artery syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006650 MONDO:0002254 True anterior spinal artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006651 MONDO:0020283 True anterior uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006652 MONDO:0005068 True anterolateral myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006653 MONDO:0015926 True anthracosilicosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006654 MONDO:0015926 True anthracosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006655 MONDO:0003803 True aortic valve prolapse aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006656 MONDO:0005561 True aortitis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006660 MONDO:0007004 True arthus reaction type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006663 MONDO:0005087 True perinatal asphyxia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006664 MONDO:0002078 True atrial septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006668 MONDO:0003799 True bacterial conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006668 MONDO:0005113 True bacterial conjunctivitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006670 MONDO:0004796 True bacterial meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006670 MONDO:0005113 True bacterial meningitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006672 MONDO:0002036 True balanitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006673 MONDO:0004805 True pituitary gland basophil adenoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006673 MONDO:0006373 True pituitary gland basophil adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006677 MONDO:0004868 True bile reflux biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006678 MONDO:0004828 True bladder calculus lower urinary tract calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006678 MONDO:0006026 True bladder calculus urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006679 MONDO:0006026 True bladder neck obstruction urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006680 MONDO:0005073 True blue nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006682 MONDO:0002122 True brachial plexus neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006682 MONDO:0006683 True brachial plexus neuritis brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006684 MONDO:0005560 True brain edema brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006686 MONDO:0005394 True brain stem infarction brain infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006687 MONDO:0006858 True burning mouth syndrome mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006688 MONDO:0015926 True byssinosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006690 MONDO:0002907 True carotid artery thrombosis intracranial thrombosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006690 MONDO:0005269 True carotid artery thrombosis carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006692 MONDO:0002562 True central pontine myelinolysis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006693 MONDO:0006808 True cerebral arterial disease intracranial arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006694 MONDO:0005311 True cerebral atherosclerosis atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006696 MONDO:0002256 True cervix erosion cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006698 MONDO:0005281 True cholecystolithiasis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006699 MONDO:0002886 True choledocholithiasis common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006700 MONDO:0002659 True choroid cancer uveal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006700 MONDO:0021258 True choroid cancer choroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006701 MONDO:0006373 True chromophobe adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006710 MONDO:0005384 True complex partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006711 MONDO:0005904 True constrictive pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006712 MONDO:0000942 True corneal edema corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006713 MONDO:0003085 True corneal neovascularization keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006715 MONDO:0005010 True coronary stenosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006716 MONDO:0000831 True coronary thrombosis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006716 MONDO:0005010 True coronary thrombosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006717 MONDO:0002300 True cutaneous fibrous histiocytoma dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006717 MONDO:0002989 True cutaneous fibrous histiocytoma benign fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006721 MONDO:0006816 True de Quervain disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006722 MONDO:0006999 True dental fluorosis tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006723 MONDO:0004842 True denture stomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006726 MONDO:0005728 True diaphragmatic eventration diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006727 MONDO:0005009 True diastolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006729 MONDO:0006987 True discrete subaortic stenosis subvalvular aortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006730 MONDO:0001423 True drug psychosis drug-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006730 MONDO:0004630 True drug psychosis substance-induced psychosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006731 MONDO:0005071 True drug-induced akathisia nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006733 MONDO:0001854 True dry eye syndrome lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006734 MONDO:0021375 True benign duodenal neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006734 MONDO:0021501 True benign duodenal neoplasm benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006735 MONDO:0002866 True duodenogastric reflux duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006738 MONDO:0021489 True eccrine acrospiroma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006739 MONDO:0004989 True Ehrlich tumor carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006740 MONDO:0003381 True empty sella syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006741 MONDO:0005560 True encephalomalacia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006742 MONDO:0006873 True endemic goiter nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006744 MONDO:0004900 True endolymphatic hydrops peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006745 MONDO:0003311 True endometrioid stromal sarcoma endometrial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006745 MONDO:0005089 True endometrioid stromal sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006745 MONDO:0011962 True endometrioid stromal sarcoma endometrial cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006746 MONDO:0005201 True endomyocardial fibrosis restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006749 MONDO:0005105 True mixed epithelioid and spindle cell melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006754 MONDO:0003749 True esophageal diverticulosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006755 MONDO:0003240 True euthyroid sick syndrome thyroid gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006757 MONDO:0001751 True extrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006759 MONDO:0001397 True femoral neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006760 MONDO:0001245 True fetal erythroblastosis microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006764 MONDO:0002041 True fungal meningitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006764 MONDO:0004796 True fungal meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006766 MONDO:0000665 True gait apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006767 MONDO:0001574 True gastric antral vascular ectasia capillary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006769 MONDO:0001318 True gastroparesis functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006770 MONDO:0005674 True giant cell reparative granuloma bone giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006771 MONDO:0001165 True glossitis tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006777 MONDO:0001165 True hairy tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006778 MONDO:0005073 True halo nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006779 MONDO:0005267 True heart aneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006782 MONDO:0002654 True hemometra uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006783 MONDO:0002076 True hemopneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006786 MONDO:0002405 True hepatic vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006787 MONDO:0021489 True hidrocystoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006788 MONDO:0000365 True hydrophthalmos primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006790 MONDO:0002220 True hypercementosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006792 MONDO:0002610 True hyperglobulinemic purpura purpura SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006794 MONDO:0000605 True hypersensitivity vasculitis hypersensitivity reaction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006795 MONDO:0002332 True hypersplenism splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0006796 MONDO:0006810 True hypertensive encephalopathy intracranial hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006797 MONDO:0005283 True hypertensive retinopathy retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006798 MONDO:0003916 True hypervitaminosis A overnutrition SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006799 MONDO:0002150 True hypothalamic neoplasm hypothalamic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006799 MONDO:0021211 True hypothalamic neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006800 MONDO:0000665 True ideomotor apraxia apraxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006801 MONDO:0004251 True ileal neoplasm small intestine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006802 MONDO:0003381 True inappropriate ADH syndrome pituitary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006803 MONDO:0005068 True inferior myocardial infarction myocardial infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006804 MONDO:0004988 True inflammatory breast carcinoma breast adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006804 MONDO:0006256 True inflammatory breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006805 MONDO:0005010 True intermediate coronary syndrome coronary artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006806 MONDO:0020283 True intermediate uveitis uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006807 MONDO:0005020 True intestinal perforation intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006808 MONDO:0011057 True intracranial arterial disease cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006809 MONDO:0011057 True intracranial embolism cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006810 MONDO:0005560 True intracranial hypertension brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006811 MONDO:0005560 True intracranial hypotension brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006812 MONDO:0011057 True intracranial vasospasm cerebrovascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006813 MONDO:0005073 True intradermal nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006814 MONDO:0002289 True iritis iris disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006815 MONDO:0000956 True jejunal cancer small intestine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006817 MONDO:0002628 True juxtacortical osteosarcoma peripheral osteosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006820 MONDO:0005240 True kidney cortex necrosis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006821 MONDO:0005240 True kidney papillary necrosis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006825 MONDO:0005429 True kuru prion disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006825 MONDO:0018926 True kuru human prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006826 MONDO:0001371 True kwashiorkor protein-energy malnutrition SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006827 MONDO:0006686 True lateral medullary syndrome brain stem infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006828 MONDO:0002436 True nasal cavity and paranasal sinus lethal midline granuloma nasal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006830 MONDO:0002036 True leukoplakia of penis penile disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006831 MONDO:0004805 True leukostasis leukocyte disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006833 MONDO:0005397 True lingual goiter goiter SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006834 MONDO:0005515 True lip cancer oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006834 MONDO:0005627 True lip cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006834 MONDO:0021249 True lip cancer lip neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006836 MONDO:0006670 True Listeria meningitis bacterial meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006837 MONDO:0005338 True low tension glaucoma open-angle glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006839 MONDO:0006664 True Lutembacher syndrome atrial septal defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006841 MONDO:0002013 True lymphangioendothelioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006842 MONDO:0006359 True lymphangiomyoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006843 MONDO:0005283 True macular holes retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006846 MONDO:0005044 True malignant hypertension hypertensive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006848 MONDO:0001371 True marasmus protein-energy malnutrition SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006849 MONDO:0002657 True mastitis breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006850 MONDO:0005289 True maxillary sinus neoplasm paranasal sinus neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006853 MONDO:0006974 True mesenchymal chondrosarcoma small cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006853 MONDO:0008977 True mesenchymal chondrosarcoma chondrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006854 MONDO:0005070 True mesenchymoma neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006855 MONDO:0005294 True mesenteric vascular occlusion peripheral vascular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006856 MONDO:0005070 True mesothelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006857 MONDO:0002679 True middle cerebral artery infarction cerebral infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006859 MONDO:0002369 True mucinous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006859 MONDO:0024338 True mucinous cystadenoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006861 MONDO:0015667 True myeloid sarcoma acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006862 MONDO:0005336 True myofascial pain syndrome myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006863 MONDO:0018078 True myxosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006864 MONDO:0001142 True necrotizing sialometaplasia salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006865 MONDO:0002508 True necrotizing ulcerative gingivitis gingivitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006866 MONDO:0009688 True neonatal myasthenia gravis myasthenia gravis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006868 MONDO:0005020 True neurogenic bowel intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006869 MONDO:0005397 True nodular goiter goiter SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006871 MONDO:0005207 True non-gestational choriocarcinoma choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006873 MONDO:0005137 True nutritional deficiency disease nutritional disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006874 MONDO:0001751 True obstructive jaundice cholestasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006875 MONDO:0005328 True ocular hypertension eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006877 MONDO:0005558 True oophoritis ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006879 MONDO:0005885 True optic papillitis optic neuritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006880 MONDO:0006858 True oral leukoedema mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006881 MONDO:0001230 True orbital cellulitis acute orbital inflammation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006882 MONDO:0002329 True orchitis testicular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006883 MONDO:0024813 True malignant superior sulcus neoplasm pulmonary sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006884 MONDO:0004863 True panophthalmitis purulent endophthalmitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006886 MONDO:0005075 True thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006887 MONDO:0000922 True parametritis pelvic inflammatory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006889 MONDO:0006904 True paraphimosis phimosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006890 MONDO:0021463 True parathyroid gland adenoma benign neoplasm of parathyroid gland SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006890 MONDO:0036976 True parathyroid gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006891 MONDO:0005384 True partial motor epilepsy focal epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006892 MONDO:0005384 True partial sensory epilepsy focal epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006894 MONDO:0006816 True patellofemoral pain syndrome arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006895 MONDO:0002036 True penile neoplasm penile disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006895 MONDO:0024582 True penile neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006896 MONDO:0001409 True peptic esophagitis esophagitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006897 MONDO:0004508 True periapical granuloma periapical periodontitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006898 MONDO:0002471 True periarthritis bursitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006899 MONDO:0002021 True pericoronitis gingival disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006900 MONDO:0005240 True perinephritis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006901 MONDO:0005070 True peritoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006903 MONDO:0003620 True peroneal nerve paralysis peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006904 MONDO:0002036 True phimosis penile disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006905 MONDO:0005073 True pigmented spindle cell nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006907 MONDO:0002093 True pilar sheath acanthoma acanthoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006908 MONDO:0001259 True pituitary apoplexy pituitary gland infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006908 MONDO:0019832 True pituitary apoplexy acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006912 MONDO:0005020 True pneumatosis cystoides intestinalis intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006916 MONDO:0004868 True postcholecystectomy syndrome biliary tract disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006917 MONDO:0002679 True posterior cerebral artery infarction cerebral infarction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006918 MONDO:0020283 True posterior uveitis uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006920 MONDO:0002908 True prediabetes syndrome glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006931 MONDO:0005275 True pulmonary coin lesion lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006933 MONDO:0005275 True pulmonary plasma cell granuloma lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006935 MONDO:0006936 True pulmonary subvalvular stenosis pulmonary valve stenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006936 MONDO:0003628 True pulmonary valve stenosis pulmonary valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006937 MONDO:0003394 True pulpitis dental pulp disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006939 MONDO:0006938 True pyelonephritis pyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006940 MONDO:0001459 True radial nerve lesion radial neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006945 MONDO:0002286 True renal artery obstruction renal artery disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006947 MONDO:0001105 True renovascular hypertension renal hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006948 MONDO:0002089 True retinal artery occlusion retinal vascular occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006949 MONDO:0002175 True retinal drusen degeneration of macula and posterior pole SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006950 MONDO:0002311 True retinal vasculitis retinal vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006950 MONDO:0018882 True retinal vasculitis vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006953 MONDO:0002901 True Rh isoimmunization blood group incompatibility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006960 MONDO:0001397 True sciatic neuropathy mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006961 MONDO:0005429 True scrapie prion disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006962 MONDO:0004970 True sebaceous adenocarcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006962 MONDO:0006973 True sebaceous adenocarcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006962 MONDO:0037735 True sebaceous adenocarcinoma sebaceous gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006963 MONDO:0002297 True sebaceous gland neoplasm epidermal appendage tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006964 MONDO:0001741 True secondary hyperparathyroidism hyperparathyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006965 MONDO:0006816 True secondary hypertrophic osteoarthropathy arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006966 MONDO:0005559 True secondary Parkinson disease neurodegenerative disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006968 MONDO:0006816 True shoulder impingement syndrome arthropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006969 MONDO:0001142 True sialadenitis salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006970 MONDO:0001142 True sialolithiasis salivary gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006972 MONDO:0005275 True silo filler disease lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006973 MONDO:0002297 True skin appendage carcinoma epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006973 MONDO:0002656 True skin appendage carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006974 MONDO:0005089 True small cell sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006975 MONDO:0021545 True smooth muscle tumor myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006976 MONDO:0019954 True somatostatinoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006792 MONDO:0002610 True hyperglobulinemic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006794 MONDO:0000605 True hypersensitivity vasculitis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006795 MONDO:0002332 True hypersplenism splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006796 MONDO:0006810 True hypertensive encephalopathy intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006797 MONDO:0005283 True hypertensive retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006798 MONDO:0003916 True hypervitaminosis A overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006799 MONDO:0002150 True hypothalamic neoplasm hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006799 MONDO:0021211 True hypothalamic neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006800 MONDO:0000665 True ideomotor apraxia apraxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006801 MONDO:0004251 True ileal neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006802 MONDO:0003381 True inappropriate ADH syndrome pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006803 MONDO:0005068 True inferior myocardial infarction myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006804 MONDO:0004988 True inflammatory breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006804 MONDO:0006256 True inflammatory breast carcinoma invasive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006805 MONDO:0005010 True intermediate coronary syndrome coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006806 MONDO:0020283 True intermediate uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006807 MONDO:0005020 True intestinal perforation intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006808 MONDO:0011057 True intracranial arterial disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006809 MONDO:0011057 True intracranial embolism cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006810 MONDO:0005560 True intracranial hypertension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006811 MONDO:0005560 True intracranial hypotension brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006812 MONDO:0011057 True intracranial vasospasm cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006813 MONDO:0005073 True intradermal nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006814 MONDO:0002289 True iritis iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006815 MONDO:0000956 True jejunal cancer small intestine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006817 MONDO:0002628 True juxtacortical osteosarcoma peripheral osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006820 MONDO:0005240 True kidney cortex necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006821 MONDO:0005240 True kidney papillary necrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006825 MONDO:0005429 True kuru prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006825 MONDO:0018926 True kuru human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006826 MONDO:0001371 True kwashiorkor protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006827 MONDO:0006686 True lateral medullary syndrome brain stem infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006828 MONDO:0002436 True nasal cavity and paranasal sinus lethal midline granuloma nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006830 MONDO:0002036 True leukoplakia of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006831 MONDO:0004805 True leukostasis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006833 MONDO:0005397 True lingual goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006834 MONDO:0005515 True lip cancer oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006834 MONDO:0005627 True lip cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006834 MONDO:0021249 True lip cancer lip neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006836 MONDO:0006670 True Listeria meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006837 MONDO:0005338 True low tension glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006839 MONDO:0006664 True Lutembacher syndrome atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006841 MONDO:0002013 True lymphangioendothelioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006842 MONDO:0006359 True lymphangiomyoma neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006843 MONDO:0005283 True macular holes retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006846 MONDO:0005044 True malignant hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006848 MONDO:0001371 True marasmus protein-energy malnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006849 MONDO:0002657 True mastitis breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006850 MONDO:0005289 True maxillary sinus neoplasm paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006853 MONDO:0006974 True mesenchymal chondrosarcoma small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006853 MONDO:0008977 True mesenchymal chondrosarcoma chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006854 MONDO:0005070 True mesenchymoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006855 MONDO:0005294 True mesenteric vascular occlusion peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006856 MONDO:0005070 True mesothelial neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006857 MONDO:0002679 True middle cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006859 MONDO:0002369 True mucinous cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006859 MONDO:0024338 True mucinous cystadenoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006861 MONDO:0015667 True myeloid sarcoma acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006862 MONDO:0005336 True myofascial pain syndrome myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006863 MONDO:0018078 True myxosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006864 MONDO:0001142 True necrotizing sialometaplasia salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006865 MONDO:0002508 True necrotizing ulcerative gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006866 MONDO:0009688 True neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006868 MONDO:0005020 True neurogenic bowel intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006869 MONDO:0005397 True nodular goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006871 MONDO:0005207 True non-gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006873 MONDO:0005137 True nutritional deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006874 MONDO:0001751 True obstructive jaundice cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006875 MONDO:0005328 True ocular hypertension eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006877 MONDO:0005558 True oophoritis ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006879 MONDO:0005885 True optic papillitis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006880 MONDO:0006858 True oral leukoedema mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006881 MONDO:0001230 True orbital cellulitis acute orbital inflammation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006882 MONDO:0002329 True orchitis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006883 MONDO:0024813 True malignant superior sulcus neoplasm pulmonary sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006884 MONDO:0004863 True panophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006886 MONDO:0005075 True thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006887 MONDO:0000922 True parametritis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006889 MONDO:0006904 True paraphimosis phimosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006890 MONDO:0021463 True parathyroid gland adenoma benign neoplasm of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006890 MONDO:0036976 True parathyroid gland adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006891 MONDO:0005384 True partial motor epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006892 MONDO:0005384 True partial sensory epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006894 MONDO:0006816 True patellofemoral pain syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006895 MONDO:0002036 True penile neoplasm penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006895 MONDO:0024582 True penile neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006896 MONDO:0001409 True peptic esophagitis esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006897 MONDO:0004508 True periapical granuloma periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006898 MONDO:0002471 True periarthritis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006899 MONDO:0002021 True pericoronitis gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006900 MONDO:0005240 True perinephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006901 MONDO:0005070 True peritoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006903 MONDO:0003620 True peroneal nerve paralysis peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006904 MONDO:0002036 True phimosis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006905 MONDO:0005073 True pigmented spindle cell nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006907 MONDO:0002093 True pilar sheath acanthoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006908 MONDO:0001259 True pituitary apoplexy pituitary gland infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006908 MONDO:0019832 True pituitary apoplexy acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006912 MONDO:0005020 True pneumatosis cystoides intestinalis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006916 MONDO:0004868 True postcholecystectomy syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006917 MONDO:0002679 True posterior cerebral artery infarction cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006918 MONDO:0020283 True posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006920 MONDO:0002908 True prediabetes syndrome glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006931 MONDO:0005275 True pulmonary coin lesion lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006933 MONDO:0005275 True pulmonary plasma cell granuloma lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006935 MONDO:0006936 True pulmonary subvalvular stenosis pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006936 MONDO:0003628 True pulmonary valve stenosis pulmonary valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006937 MONDO:0003394 True pulpitis dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006939 MONDO:0006938 True pyelonephritis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006940 MONDO:0001459 True radial nerve lesion radial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006945 MONDO:0002286 True renal artery obstruction renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006947 MONDO:0001105 True renovascular hypertension renal hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006948 MONDO:0002089 True retinal artery occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006949 MONDO:0002175 True retinal drusen degeneration of macula and posterior pole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006950 MONDO:0002311 True retinal vasculitis retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006950 MONDO:0018882 True retinal vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006953 MONDO:0002901 True Rh isoimmunization blood group incompatibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006960 MONDO:0001397 True sciatic neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006961 MONDO:0005429 True scrapie prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006962 MONDO:0004970 True sebaceous adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006962 MONDO:0006973 True sebaceous adenocarcinoma skin appendage carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006962 MONDO:0037735 True sebaceous adenocarcinoma sebaceous gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006963 MONDO:0002297 True sebaceous gland neoplasm epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006964 MONDO:0001741 True secondary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006965 MONDO:0006816 True secondary hypertrophic osteoarthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006966 MONDO:0005559 True secondary Parkinson disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006968 MONDO:0006816 True shoulder impingement syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006969 MONDO:0001142 True sialadenitis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006970 MONDO:0001142 True sialolithiasis salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006972 MONDO:0005275 True silo filler disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006973 MONDO:0002297 True skin appendage carcinoma epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006973 MONDO:0002656 True skin appendage carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006974 MONDO:0005089 True small cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006975 MONDO:0021545 True smooth muscle tumor myomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006976 MONDO:0019954 True somatostatinoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006977 MONDO:0003150 True spermatocele male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006978 MONDO:0002332 True splenic infarction splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006980 MONDO:0002372 True struma ovarii ovarian monodermal and highly specialized teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006981 MONDO:0000565 True subacute bacterial endocarditis infective endocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006983 MONDO:0002254 True subclavian steal syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006986 MONDO:0005397 True substernal goiter goiter SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006987 MONDO:0042981 True subvalvular aortic stenosis aortic valve stenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006989 MONDO:0004508 True suppurative periapical periodontitis periapical periodontitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006990 MONDO:0020283 True suppurative uveitis uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006993 MONDO:0005009 True systolic heart failure congestive heart failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006994 MONDO:0006997 True tarsal tunnel syndrome tibial neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006995 MONDO:0002545 True tethered spinal cord syndrome spinal cord disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006997 MONDO:0001397 True tibial neuropathy mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006998 MONDO:0021250 True tonsil cancer tonsil neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006999 MONDO:0006858 True tooth disorder mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007002 MONDO:0003569 True trochlear nerve disorder cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007002 MONDO:0003620 True trochlear nerve disorder peripheral nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007004 MONDO:0000605 True type III hypersensitivity disease hypersensitivity reaction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007006 MONDO:0001397 True ulnar neuropathy mononeuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007008 MONDO:0001106 True uremia kidney failure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007009 MONDO:0001926 True ureterolithiasis ureteral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007011 MONDO:0019338 True uveoparotid fever sarcoidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007012 MONDO:0018686 True variant Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007013 MONDO:0005362 True vasculogenic impotence erectile dysfunction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007015 MONDO:0004796 True viral meningitis infectious meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007017 MONDO:0004860 True vitreous detachment vitreous disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007018 MONDO:0002187 True vulvitis vulvar disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007020 MONDO:0005560 True Wernicke encephalopathy brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007022 MONDO:0001110 True xanthogranulomatous pyelonephritis chronic pyelonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007027 MONDO:0013209 True metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007029 MONDO:0000426 True branchio-oto-renal syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007029 MONDO:0002254 True branchio-oto-renal syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007029 MONDO:0015161 True branchio-oto-renal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007030 MONDO:0000426 True autosomal dominant Aarskog syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007030 MONDO:0021005 True autosomal dominant Aarskog syndrome faciodigitogenital syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007032 MONDO:0002254 True prune belly syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007032 MONDO:0018559 True prune belly syndrome fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007033 MONDO:0002782 True abducens nerve palsy cranial nerve palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007033 MONDO:0020594 True abducens nerve palsy abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007034 MONDO:0018234 True Adams-Oliver syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007034 MONDO:0019054 True Adams-Oliver syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007036 MONDO:0002254 True Achard syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007037 MONDO:0005516 True Achondroplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007037 MONDO:0019685 True Achondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007042 MONDO:0019796 True Saethre-Chotzen syndrome acrocephalosyndactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007044 MONDO:0019797 True Acrodysostosis 1 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007045 MONDO:0015159 True acrofacial dysostosis, Catania type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007045 MONDO:0018237 True acrofacial dysostosis, Catania type acrofacial dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007046 MONDO:0006566 True hereditary papulotranslucent acrokeratoderma keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007047 MONDO:0017675 True punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007048 MONDO:0006566 True acrokeratosis verruciformis keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007052 MONDO:0017824 True growth hormone secreting pituitary adenoma 1 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007053 MONDO:0100170 True restless legs syndrome, susceptibility to, 1 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007055 MONDO:0019695 True Acromicric dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0000426 True Acroosteolysis dominant type autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007058 MONDO:0015929 True Acropectorovertebral dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007059 MONDO:0015161 True acrorenal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007060 MONDO:0004983 True spermatogenic failure 6 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007060 MONDO:0015746 True spermatogenic failure 6 male infertility due to globozoospermia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007062 MONDO:0018234 True adactylia, unilateral dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007062 MONDO:0019713 True adactylia, unilateral non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0019236 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007064 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007068 MONDO:0004736 True adenylosuccinate lyase deficiency inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007068 MONDO:0019236 True adenylosuccinate lyase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007070 MONDO:0006574 True adiposis dolorosa lipomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007070 MONDO:0019296 True adiposis dolorosa subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0000426 True ADULT syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0018234 True ADULT syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0019054 True ADULT syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007072 MONDO:0019287 True ADULT syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007073 MONDO:0017139 True Hypoglossia-hypodactyly syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007073 MONDO:0019054 True Hypoglossia-hypodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007074 MONDO:0003900 True ainhum connective tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007077 MONDO:0019290 True Tietz syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007078 MONDO:0019695 True pseudohypoparathyroidism type 1A acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007078 MONDO:0019992 True pseudohypoparathyroidism type 1A pseudohypoparathyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007080 MONDO:0016525 True glucocorticoid-remediable aldosteronism familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007082 MONDO:0000005 True alopecia areata 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007083 MONDO:0017666 True autosomal dominant palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007083 MONDO:0019287 True autosomal dominant palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007084 MONDO:0000005 True familial focal alopecia alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007086 MONDO:0000426 True autosomal dominant Alport syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007086 MONDO:0018965 True autosomal dominant Alport syndrome Alport syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007087 MONDO:0016241 True alternating hemiplegia of childhood 1 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007092 MONDO:0000426 True amelogenesis imperfecta type 1B autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007093 MONDO:0019507 True hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism amelogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007095 MONDO:0019287 True ameloonychohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0018102 True Finnish type amyloidosis corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0018634 True Finnish type amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0020127 True Finnish type amyloidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007098 MONDO:0005620 True ACys amyloidosis cerebral amyloid angiopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007099 MONDO:0018634 True familial visceral amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007100 MONDO:0018634 True familial amyloid neuropathy hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007100 MONDO:0020127 True familial amyloid neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007101 MONDO:0015301 True familial primary localized cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007103 MONDO:0005144 True amyotrophic lateral sclerosis type 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007105 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007105 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007108 MONDO:0000405 True anal canal carcinoma anal canal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007108 MONDO:0003199 True anal canal carcinoma anal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007108 MONDO:0018516 True anal canal carcinoma epithelial tumor of anal canal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007109 MONDO:0019403 True congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007110 MONDO:0015253 True Diamond-Blackfan anemia 1 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007111 MONDO:0016483 True aneurysm, intracranial berry type 1 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007112 MONDO:0019512 True interventricular septum aneurysm congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007113 MONDO:0002254 True Angelman syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007114 MONDO:0019695 True Angel-shaped phalango-epiphyseal dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007116 MONDO:0019755 True hereditary neurocutaneous angioma developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0006527 True isolated anhidrosis with normal sweat glands anhidrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0019296 True isolated anhidrosis with normal sweat glands subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007118 MONDO:0021154 True isolated anhidrosis with normal sweat glands dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0018234 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0019054 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:0019287 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007125 MONDO:0001165 True ankyloglossia tongue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007126 MONDO:0024512 True spondyloarthropathy, susceptibility to, 1 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007129 MONDO:0005486 True tooth agenesis, selective, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007130 MONDO:0017705 True congenital total pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007131 MONDO:0019287 True anonychia with flexural pigmentation ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007134 MONDO:0018234 True Cooks syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007134 MONDO:0019054 True Cooks syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007137 MONDO:0018751 True isolated congenital anosmia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007138 MONDO:0019503 True anterior segment dysgenesis 1 anterior segment dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0000426 True Townes-Brocks syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0002254 True Townes-Brocks syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0015161 True Townes-Brocks syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007142 MONDO:0019054 True Townes-Brocks syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007143 MONDO:0015159 True aortic arch anomaly-facial dysmorphism-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007145 MONDO:0019294 True aplasia cutis congenita mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007147 MONDO:0005296 True obstructive sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0007150 MONDO:0001515 True arcus senilis corneal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007152 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007157 MONDO:0015240 True arthrogryposis, distal, type 1A digitotalar dysmorphism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007158 MONDO:0019942 True arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007159 MONDO:0019942 True arthrogryposis-like hand anomaly-sensorineural deafness syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007160 MONDO:0019354 True Stickler syndrome type 1 Stickler syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007160 MONDO:0022800 True Stickler syndrome type 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007161 MONDO:0004983 True spermatogenic failure 2 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007163 MONDO:0016227 True episodic ataxia type 2 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007164 MONDO:0017846 True spastic ataxia 1 autosomal dominant spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007165 MONDO:0017846 True spastic ataxia 7 autosomal dominant spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007167 MONDO:0000389 True atelosteogenesis type I atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007167 MONDO:0019690 True atelosteogenesis type I filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007168 MONDO:0000389 True atelosteogenesis type III atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007168 MONDO:0019690 True atelosteogenesis type III filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007172 MONDO:0006664 True atrial septal defect 1 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007173 MONDO:0006664 True atrial septal defect 7 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007174 MONDO:0002254 True Lown-Ganong-Levine syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007179 MONDO:0005046 True autoimmune disease immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007182 MONDO:0015548 True Machado-Joseph disease Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007182 MONDO:0019792 True Machado-Joseph disease autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007184 MONDO:0000005 True alopecia, androgenetic, 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0000426 True nevoid basal cell carcinoma syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0015356 True nevoid basal cell carcinoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0019755 True nevoid basal cell carcinoma syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007193 MONDO:0005388 True primary biliary cholangitis 1 primary biliary cholangitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007194 MONDO:0003803 True familial bicuspid aortic valve aortic valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007197 MONDO:0006026 True bladder diverticulum urinary bladder disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007198 MONDO:0015161 True Ascher syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007200 MONDO:0015159 True blepharonasofacial malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007201 MONDO:0008537 True blepharophimosis, ptosis, and epicanthus inversus syndrome telecanthus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007203 MONDO:0015356 True blue rubber bleb nevus hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007203 MONDO:0019293 True blue rubber bleb nevus skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007204 MONDO:0016085 True Cole-Carpenter syndrome 1 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0018230 True diaphyseal medullary stenosis-bone malignancy syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0019060 True diaphyseal medullary stenosis-bone malignancy syndrome bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007207 MONDO:0019287 True Böök syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007208 MONDO:0005516 True Boomerang dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007208 MONDO:0019690 True Boomerang dysplasia filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007209 MONDO:0019698 True Weismann-Netter syndrome bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007211 MONDO:0002254 True brachydactyly-arterial hypertension syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007211 MONDO:0018234 True brachydactyly-arterial hypertension syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007211 MONDO:0019054 True brachydactyly-arterial hypertension syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007212 MONDO:0016432 True brachydactyly-long thumb syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007213 MONDO:0021004 True Ballard syndrome brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007214 MONDO:0019054 True brachydactyly-preaxial hallux varus syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007215 MONDO:0021004 True brachydactyly type A1 brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007216 MONDO:0021004 True brachydactyly type A2 brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007217 MONDO:0021004 True brachydactyly type A3 brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007218 MONDO:0021004 True brachydactyly type A4 brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007219 MONDO:0019696 True Osebold-Remondini syndrome acromesomelic dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007219 MONDO:0021004 True Osebold-Remondini syndrome brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007220 MONDO:0019676 True brachydactyly type B1 brachydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007221 MONDO:0021004 True brachydactyly type C brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007222 MONDO:0021004 True brachydactyly type D brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007225 MONDO:0018234 True fibular aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007225 MONDO:0019054 True fibular aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007226 MONDO:0015159 True brachydactyly-nystagmus-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007230 MONDO:0019054 True Brachymorphism-onychodysplasia-dysphalangism syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0015161 True brachytelephalangy-dysmorphism-Kallmann syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0015770 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0018234 True brachytelephalangy-dysmorphism-Kallmann syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007231 MONDO:0019054 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007232 MONDO:0015262 True autosomal dominant brachyolmia brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007232 MONDO:0018240 True autosomal dominant brachyolmia TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007233 MONDO:0015476 True second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007235 MONDO:0000426 True branchiooculofacial syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007235 MONDO:0015161 True branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007236 MONDO:0007029 True branchiootorenal syndrome 1 branchio-oto-renal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007239 MONDO:0017266 True epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007243 MONDO:0017343 True Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007243 MONDO:0017595 True Burkitt lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007244 MONDO:0002614 True Caffey disease bone inflammation disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007244 MONDO:0019702 True Caffey disease neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007245 MONDO:0019289 True cafe au lait spots, multiple hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007248 MONDO:0017672 True hereditary painful callosities focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007251 MONDO:0005516 True campomelic dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007251 MONDO:0019698 True campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007252 MONDO:0015161 True Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007254 MONDO:0003274 True breast cancer thoracic cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007254 MONDO:0021100 True breast cancer breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007256 MONDO:0004970 True hepatocellular carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007257 MONDO:0015279 True candidiasis, familial, 1 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007259 MONDO:0015159 True craniofaciofrontodigital syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007265 MONDO:0015280 True cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007266 MONDO:0024573 True hypertrophic cardiomyopathy 2 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007267 MONDO:0024573 True hypertrophic cardiomyopathy 3 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007268 MONDO:0024573 True hypertrophic cardiomyopathy 4 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007269 MONDO:0016333 True dilated cardiomyopathy 1A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007270 MONDO:0016340 True cardiomyopathy, familial restrictive, 1 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007272 MONDO:0017758 True hereditary hypercarotenemia and vitamin A deficiency disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007273 MONDO:0000448 True paragangliomas 4 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007275 MONDO:0003615 True carpal tunnel syndrome nerve compression syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007277 MONDO:0015161 True cataract-aberrant oral frenula-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007281 MONDO:0005129 True cataract 4 multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007282 MONDO:0005129 True cataract 29 cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007285 MONDO:0005129 True cataract 1 multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007293 MONDO:0017570 True leukocyte adhesion deficiency 1 leukocyte adhesion deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007295 MONDO:0000414 True childhood epilepsy with centrotemporal spikes childhood electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007295 MONDO:0017704 True childhood epilepsy with centrotemporal spikes familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007296 MONDO:0019793 True spinocerebellar ataxia type 31 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007297 MONDO:0005620 True ADan amyloidosis cerebral amyloid angiopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007297 MONDO:0018591 True ADan amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007298 MONDO:0019792 True spinocerebellar ataxia type 29 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007301 MONDO:0002254 True cerebrocostomandibular syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007306 MONDO:0001029 True Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007307 MONDO:0019011 True Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007308 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007309 MONDO:0016950 True Charcot-Marie-Tooth disease type 1A partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007309 MONDO:0019011 True Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007311 MONDO:0019011 True Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0000426 True cherubism autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0015161 True cherubism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0019751 True cherubism autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007316 MONDO:0018075 True Chiari malformation type I neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0015161 True Alagille syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007321 MONDO:0000426 True autosomal dominant chondrodysplasia punctata autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007321 MONDO:0002254 True autosomal dominant chondrodysplasia punctata syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007327 MONDO:0018637 True chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase familial chylomicronemia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007330 MONDO:0018234 True congenital pseudoarthrosis of clavicle dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007334 MONDO:0017435 True autosomal dominant popliteal pterygium syndrome popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007335 MONDO:0000358 True orofacial cleft 1 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007336 MONDO:0016064 True isolated cleft palate cleft palate SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007337 MONDO:0015161 True cleft palate-lateral synechia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007338 MONDO:0016064 True cleft soft palate cleft palate SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007339 MONDO:0000426 True blepharocheilodontic syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007339 MONDO:0015161 True blepharocheilodontic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007339 MONDO:0019287 True blepharocheilodontic syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007339 MONDO:0020161 True blepharocheilodontic syndrome congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007340 MONDO:0005516 True cleidocranial dysplasia 1 osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007340 MONDO:0018230 True cleidocranial dysplasia 1 skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007341 MONDO:0018230 True cleidorhizomelic syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007343 MONDO:0019284 True isolated congenital digital clubbing inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007345 MONDO:0021147 True aorta coarctation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007349 MONDO:0018768 True familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007352 MONDO:0000426 True renal coloboma syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007352 MONDO:0002254 True renal coloboma syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007354 MONDO:0001834 True coloboma of optic nerve visual pathway disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007355 MONDO:0003847 True uveal coloboma-cleft lip and palate-intellectual disability hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007355 MONDO:0015159 True uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007356 MONDO:0000426 True Lynch syndrome 1 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007363 MONDO:0017310 True congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007365 MONDO:0016027 True seizures, benign familial neonatal, 1 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007366 MONDO:0016027 True seizures, benign familial neonatal, 2 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007367 MONDO:0000032 True febrile seizures, familial, 1 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007368 MONDO:0017762 True familial benign copper deficiency disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007369 MONDO:0002520 True hereditary coproporphyria hepatic porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007372 MONDO:0000733 True cornea plana 1, autosomal dominant cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007374 MONDO:0003847 True Schnyder corneal dystrophy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007374 MONDO:0020213 True Schnyder corneal dystrophy stromal corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007375 MONDO:0000763 True epithelial basement membrane dystrophy epithelial and subepithelial corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007375 MONDO:0020212 True epithelial basement membrane dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007376 MONDO:0020213 True fleck corneal dystrophy stromal corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007377 MONDO:0000764 True granular corneal dystrophy type I epithelial-stromal TGFBI dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007377 MONDO:0020213 True granular corneal dystrophy type I stromal corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007378 MONDO:0020364 True posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007379 MONDO:0000763 True Meesmann corneal dystrophy epithelial and subepithelial corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007379 MONDO:0020212 True Meesmann corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007381 MONDO:0003847 True epithelial recurrent erosion dystrophy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007381 MONDO:0020212 True epithelial recurrent erosion dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007382 MONDO:0015159 True Ramos-Arroyo syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007383 MONDO:0019287 True Stern-Lubinsky-Durrie syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007384 MONDO:0020127 True congenital trigeminal anesthesia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007387 MONDO:0016033 True Cornelia de Lange syndrome 1 Cornelia de Lange syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007388 MONDO:0015929 True congenitally short costocoracoid ligament thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007389 MONDO:0000359 True spondylocostal dysostosis 5 spondylocostal dysostosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007390 MONDO:0003847 True coumarin resistance hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007395 MONDO:0003847 True craniofacial-deafness-hand syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007395 MONDO:0015161 True craniofacial-deafness-hand syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007397 MONDO:0015465 True craniometaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007401 MONDO:0015704 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome familial scaphocephaly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007401 MONDO:0020022 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007403 MONDO:0024237 True inherited Creutzfeldt-Jakob disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007404 MONDO:0002254 True Cri-du-chat syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007404 MONDO:0016887 True Cri-du-chat syndrome partial deletion of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007405 MONDO:0015338 True Crouzon syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007407 MONDO:0015491 True Cryoglobulinemic vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007409 MONDO:0015161 True cryptomicrotia-brachydactyly-excess fingertip arch syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007410 MONDO:0020153 True isolated cryptophthalmia cryptophthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007411 MONDO:0019571 True cutis laxa, autosomal dominant 1 autosomal dominant cutis laxa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007412 MONDO:0000426 True Beare-Stevenson cutis gyrata syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007412 MONDO:0015161 True Beare-Stevenson cutis gyrata syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007412 MONDO:0015338 True Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007413 MONDO:0015161 True Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007413 MONDO:0020120 True Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007414 MONDO:0002013 True Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007415 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0007417 MONDO:0019268 True Darier disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007420 MONDO:0002254 True autosomal dominant deafness - onychodystrophy syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007420 MONDO:0003847 True autosomal dominant deafness - onychodystrophy syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007422 MONDO:0003847 True keratoderma hereditarium mutilans hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007424 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007428 MONDO:0015161 True deafness-craniofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007434 MONDO:0003847 True primary failure of tooth eruption hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007435 MONDO:0015548 True dentatorubral-pallidoluysian atrophy Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007435 MONDO:0019794 True dentatorubral-pallidoluysian atrophy autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007436 MONDO:0015613 True dentin dysplasia type I dentin dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007437 MONDO:0015613 True dentin dysplasia type II dentin dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007441 MONDO:0018849 True dentinogenesis imperfecta type 2 dentinogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007442 MONDO:0018849 True dentinogenesis imperfecta type 3 dentinogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0017666 True dermatopathia pigmentosa reticularis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0019287 True dermatopathia pigmentosa reticularis ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007445 MONDO:0019289 True dermatopathia pigmentosa reticularis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007446 MONDO:0002406 True dermatosis papulosa nigra dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007448 MONDO:0006599 True familial dermatographia physical urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007449 MONDO:0019287 True dermo-odonto dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007450 MONDO:0000426 True neurohypophyseal diabetes insipidus autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007450 MONDO:0004782 True neurohypophyseal diabetes insipidus diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007450 MONDO:0015790 True neurohypophyseal diabetes insipidus central diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007451 MONDO:0016383 True diabetes insipidus, nephrogenic, autosomal nephrogenic diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007452 MONDO:0018911 True maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007453 MONDO:0018911 True maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007461 MONDO:0015161 True short stature-valvular heart disease-characteristic facies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007471 MONDO:0006949 True Doyne honeycomb retinal dystrophy retinal drusen SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007472 MONDO:0006949 True basal laminar drusen retinal drusen SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007477 MONDO:0002254 True 3-M syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007477 MONDO:0006025 True 3-M syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007477 MONDO:0015161 True 3-M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007478 MONDO:0000426 True autosomal dominant Kenny-Caffey syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007481 MONDO:0005516 True Leri-Weill dyschondrosteosis osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007481 MONDO:0018230 True Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007482 MONDO:0018230 True dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007483 MONDO:0000118 True dyschromatosis symmetrica hereditaria reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007483 MONDO:0019289 True dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007486 MONDO:0020212 True hereditary benign intraepithelial dyskeratosis superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007489 MONDO:0018230 True dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007490 MONDO:0018230 True carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007493 MONDO:0015990 True torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0016812 True dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007496 MONDO:0020065 True dystonia 12 combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007507 MONDO:0019268 True absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007508 MONDO:0000426 True Rapp-Hodgkin syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007508 MONDO:0019287 True Rapp-Hodgkin syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007510 MONDO:0017666 True Clouston syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007510 MONDO:0019287 True Clouston syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007511 MONDO:0019287 True ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007514 MONDO:0003847 True ectopia lentis 1, isolated, autosomal dominant hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007514 MONDO:0015998 True ectopia lentis 1, isolated, autosomal dominant isolated ectopia lentis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007519 MONDO:0043009 True Edinburgh malformation syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007520 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 EEC syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007522 MONDO:0020066 True Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007523 MONDO:0020066 True Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007524 MONDO:0000426 True autosomal dominant Ehlers-Danlos syndrome, vascular type autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007525 MONDO:0020066 True Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007526 MONDO:0015327 True Ehlers-Danlos syndrome, spondylodysplastic type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007526 MONDO:0019052 True Ehlers-Danlos syndrome, spondylodysplastic type inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007526 MONDO:0020066 True Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007527 MONDO:0020066 True Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007534 MONDO:0015356 True Beckwith-Wiedemann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007534 MONDO:0019716 True Beckwith-Wiedemann syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007537 MONDO:0003847 True lateral meningocele syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007537 MONDO:0018075 True lateral meningocele syndrome neural tube defect UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007538 MONDO:0019507 True amelogenesis imperfecta, type 3A amelogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0000426 True multiple endocrine neoplasia type 1 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0016365 True multiple endocrine neoplasia type 1 familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0017169 True multiple endocrine neoplasia type 1 multiple endocrine neoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007540 MONDO:0021227 True multiple endocrine neoplasia type 1 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007542 MONDO:0018230 True Camurati-Engelmann disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007548 MONDO:0006543 True transient bullous dermolysis of the newborn epidermolysis bullosa dystrophica SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007549 MONDO:0006543 True generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007550 MONDO:0017610 True epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007551 MONDO:0017610 True epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007552 MONDO:0006543 True pretibial dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007557 MONDO:0003847 True epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007558 MONDO:0015650 True benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007559 MONDO:0015643 True photoparoxysmal response 1 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007560 MONDO:0017768 True reading seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007562 MONDO:0016648 True multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007562 MONDO:0022800 True multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007565 MONDO:0011512 True familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007568 MONDO:0019625 True aortic aneurysm, familial thoracic 4 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007572 MONDO:0001115 True primary familial polycythemia due to EPO receptor mutation familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007574 MONDO:0019270 True spinocerebellar ataxia type 34 erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007574 MONDO:0019792 True spinocerebellar ataxia type 34 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007576 MONDO:0002516 True esophageal cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007576 MONDO:0021355 True esophageal cancer neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007585 MONDO:0005508 True exostoses, multiple, type 1 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007586 MONDO:0005508 True exostoses, multiple, type 2 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007587 MONDO:0015161 True external auditory canal atresia-vertical talus-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007587 MONDO:0018234 True external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007588 MONDO:0015159 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007588 MONDO:0019289 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007592 MONDO:0020127 True familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0015161 True femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0018234 True femoral-facial syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0019054 True femoral-facial syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007606 MONDO:0003847 True fibrodysplasia ossificans progressiva hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007606 MONDO:0019296 True fibrodysplasia ossificans progressiva subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007608 MONDO:0005031 True desmoid tumor fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007608 MONDO:0006424 True desmoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007609 MONDO:0016070 True fibromatosis, gingival, 1 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007610 MONDO:0019280 True gingival fibromatosis-hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007610 MONDO:0019287 True gingival fibromatosis-hypertrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007614 MONDO:0001584 True congenital fibrosis of extraocular muscles ocular motility disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007614 MONDO:0016106 True congenital fibrosis of extraocular muscles progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007615 MONDO:0019054 True laurin-Sandrow syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007617 MONDO:0000426 True Coffin-Siris syndrome 1 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007617 MONDO:0015452 True Coffin-Siris syndrome 1 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007619 MONDO:0000426 True isolated congenital adermatoglyphia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007620 MONDO:0018999 True fish eye disease LCAT deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007620 MONDO:0019052 True fish eye disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007621 MONDO:0003847 True Floating-Harbor syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007621 MONDO:0015159 True Floating-Harbor syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007624 MONDO:0019303 True Flynn-Aird syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007627 MONDO:0018363 True focal facial dermal dysplasia type I focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007628 MONDO:0044203 True foveal hypoplasia 1 foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007630 MONDO:0031166 True North Carolina macular dystrophy macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007631 MONDO:0003847 True chromosome 16p12.1 deletion syndrome, 520kb hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007635 MONDO:0000426 True Frasier syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007635 MONDO:0002254 True Frasier syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007635 MONDO:0020040 True Frasier syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007636 MONDO:0016643 True frontorhiny frontonasal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007637 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 1 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007640 MONDO:0019118 True Sorsby fundus dystrophy inherited retinal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007646 MONDO:0002254 True Gamstorp-Wohlfart syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007648 MONDO:0005017 True hereditary diffuse gastric adenocarcinoma diffuse gastric adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007648 MONDO:0018502 True hereditary diffuse gastric adenocarcinoma hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007650 MONDO:0004949 True MALT lymphoma neoplasm of mature B-cells UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007650 MONDO:0017604 True MALT lymphoma marginal zone lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007651 MONDO:0019289 True gastrocutaneous syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007652 MONDO:0004966 True gastric mucosal hypertrophy gastritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007655 MONDO:0001165 True fissured tongue tongue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007656 MONDO:0005429 True Gerstmann-Straussler-Scheinker syndrome prion disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007661 MONDO:0002420 True Tourette syndrome tic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007669 MONDO:0018911 True renal cysts and diabetes syndrome maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007670 MONDO:0019175 True hypotrichosis-lymphedema-telangiectasia syndrome (grouping) primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007671 MONDO:0019722 True fibronectin glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007672 MONDO:0003847 True glomuvenous malformation hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007680 MONDO:0015161 True multinodular goiter-cystic kidney-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007681 MONDO:0000334 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007681 MONDO:0015356 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0000009 True gray platelet syndrome inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0020117 True gray platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0015159 True Myhre syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0019695 True Myhre syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007690 MONDO:0005039 True aromatase excess syndrome reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007693 MONDO:0019280 True hypertrichosis cubiti-short stature syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007693 MONDO:0019287 True hypertrichosis cubiti-short stature syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007696 MONDO:0019054 True Emery-Nelson syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0000426 True hand-foot-genital syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0002254 True hand-foot-genital syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0015161 True hand-foot-genital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0018234 True hand-foot-genital syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0019054 True hand-foot-genital syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007700 MONDO:0017307 True hawkinsinuria disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007701 MONDO:0019490 True progressive familial heart block type II progressive familial heart block SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007705 MONDO:0003664 True Heinz body anemia hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007709 MONDO:0957317 True hematuria, benign familial, 1 hematuria, benign familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007710 MONDO:0002098 True facial hemiatrophy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007711 MONDO:0015161 True Bencze syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007712 MONDO:0015161 True oculoauriculovertebral spectrum with radial defects multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007712 MONDO:0018234 True oculoauriculovertebral spectrum with radial defects dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007716 MONDO:0005570 True alpha thalassemia-intellectual disability syndrome type 1 hematologic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007716 MONDO:0016894 True alpha thalassemia-intellectual disability syndrome type 1 partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007718 MONDO:0003847 True hepatic adenomas, familial hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007718 MONDO:0018902 True hepatic adenomas, familial hepatocellular adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007719 MONDO:0005711 True diaphragmatic hernia 1 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007721 MONDO:0004298 True hiatus hernia stomach disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007725 MONDO:0015531 True hereditary progressive mucinous histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007727 MONDO:0005046 True autosomal dominant familial periodic fever immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007727 MONDO:0017953 True autosomal dominant familial periodic fever hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007728 MONDO:0024516 True acne inversa, familial, 1 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007729 MONDO:0000158 True developmental dysplasia of the hip 1 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0000426 True Holt-Oram syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0015161 True Holt-Oram syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0016432 True Holt-Oram syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007733 MONDO:0016296 True holoprosencephaly 3 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007737 MONDO:0001411 True humeroradial synostosis synostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007738 MONDO:0016761 True spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007738 MONDO:0019052 True spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007744 MONDO:0015903 True cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007747 MONDO:0006025 True isolated hyperchlorhidrosis autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007747 MONDO:0021026 True isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007750 MONDO:0005439 True hypercholesterolemia, familial, 1 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007751 MONDO:0005439 True hypercholesterolemia, autosomal dominant, type B familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007753 MONDO:0001292 True Frey syndrome autonomic nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007756 MONDO:0019268 True hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007757 MONDO:0019289 True hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007762 MONDO:0001336 True hyperlipoproteinemia type V familial hyperlipidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007763 MONDO:0005086 True nonpapillary renal cell carcinoma renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007764 MONDO:0002185 True autosomal dominant osteosclerosis, Worth type hyperostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007764 MONDO:0018230 True autosomal dominant osteosclerosis, Worth type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0015356 True hyperparathyroidism 2 with jaw tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0016365 True hyperparathyroidism 2 with jaw tumors familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007772 MONDO:0019162 True pseudohypoaldosteronism type 2A pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007783 MONDO:0800188 True malignant hyperthermia, susceptibility to, 1 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007784 MONDO:0004425 True selective pituitary resistance to thyroid hormone hyperthyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007785 MONDO:0003847 True hyperthyroxinemia, dystransthyretinemic hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007785 MONDO:0005333 True hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007787 MONDO:0016381 True Ambras type hypertrichosis universalis congenita hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007790 MONDO:0015626 True Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007791 MONDO:0018458 True familial hypocalciuric hypercalcemia 1 familial hypocalciuric hypercalcemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007792 MONDO:0018458 True familial hypocalciuric hypercalcemia 2 familial hypocalciuric hypercalcemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007793 MONDO:0005516 True hypochondroplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007793 MONDO:0019685 True hypochondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007795 MONDO:0015161 True mullerian duct anomalies-limb anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007796 MONDO:0016390 True hypoparathyroidism, familial isolated 1 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0003847 True hypoparathyroidism-deafness-renal disease syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0016892 True hypoparathyroidism-deafness-renal disease syndrome partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007800 MONDO:0016880 True chromosome 18p deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007802 MONDO:0005345 True hypospadias 3, autosomal hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007803 MONDO:0000510 True multiple system atrophy synucleinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007804 MONDO:0002254 True Pallister-Hall syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007804 MONDO:0018762 True Pallister-Hall syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007805 MONDO:0003037 True hypotrichosis 2 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007808 MONDO:0859383 True ichthyosis hystrix of Curth-Macklin ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007809 MONDO:0859383 True ichthyosis histrix, Lambert type ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007810 MONDO:0000426 True autosomal dominant ichthyosis vulgaris autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007813 MONDO:0017266 True superficial epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007818 MONDO:0000426 True hyper-IgE recurrent infection syndrome 1, autosomal dominant autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007818 MONDO:0018037 True hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007827 MONDO:0021167 True inclusion body myositis myositis disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007828 MONDO:0003847 True indifference to pain, congenital, autosomal dominant hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007829 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 1 intrahepatic cholestasis of pregnancy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007835 MONDO:0004565 True intussusception intestinal obstruction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007836 MONDO:0003847 True IVIC syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007836 MONDO:0018234 True IVIC syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007836 MONDO:0019054 True IVIC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007837 MONDO:0015159 True Johnson neuroectodermal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007837 MONDO:0019287 True Johnson neuroectodermal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0016910 True Jacobsen syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0018795 True Jacobsen syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007839 MONDO:0015161 True Aase-Smith syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007839 MONDO:0020022 True Aase-Smith syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007843 MONDO:0016512 True Kabuki syndrome 1 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007846 MONDO:0015159 True KBG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007848 MONDO:0000426 True autosomal dominant keratitis autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007848 MONDO:0003085 True autosomal dominant keratitis keratitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007850 MONDO:0000426 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007850 MONDO:0018781 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007851 MONDO:0015486 True keratoconus 1 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007852 MONDO:0017666 True palmoplantar keratoderma-deafness syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007853 MONDO:0017666 True palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007854 MONDO:0019268 True keratolytic winter erythema epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007856 MONDO:0002254 True palmoplantar keratoderma-esophageal carcinoma syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007856 MONDO:0017672 True palmoplantar keratoderma-esophageal carcinoma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007857 MONDO:0017666 True keratosis palmaris et plantaris-clinodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007860 MONDO:0017672 True focal palmoplantar and gingival keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007862 MONDO:0018094 True Waardenburg syndrome type 3 Waardenburg syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007863 MONDO:0004617 True Kleine-Levin syndrome recurrent hypersomnia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0002254 True angioosteohypertrophic syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0019716 True angioosteohypertrophic syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0019755 True angioosteohypertrophic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007866 MONDO:0017666 True Bart-Pumphrey syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007867 MONDO:0019284 True nonsyndromic congenital nail disorder 2 inherited isolated nail anomaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007868 MONDO:0021022 True hyperekplexia 1 hereditary hyperekplexia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007871 MONDO:0018751 True familial congenital nasolacrimal duct obstruction hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007872 MONDO:0000426 True LADD syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007872 MONDO:0015161 True LADD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0000426 True trichorhinophalangeal syndrome type II autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0015159 True trichorhinophalangeal syndrome type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0016907 True trichorhinophalangeal syndrome type II partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007874 MONDO:0017951 True trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0000426 True Larsen syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0019690 True Larsen syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007875 MONDO:0019755 True Larsen syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007881 MONDO:0005486 True tooth agenesis, selective, 4 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007885 MONDO:0018381 True Legg-Calve-Perthes disease osteochondrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007885 MONDO:0022800 True Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007886 MONDO:0001572 True uterine corpus leiomyoma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007886 MONDO:0021525 True uterine corpus leiomyoma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007891 MONDO:0019289 True familial generalized lentiginosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0002254 True Lenz-Majewski hyperostotic dwarfism syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0015159 True Lenz-Majewski hyperostotic dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007892 MONDO:0018230 True Lenz-Majewski hyperostotic dwarfism skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0000426 True Noonan syndrome with multiple lentigines autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0002254 True Noonan syndrome with multiple lentigines syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0015161 True Noonan syndrome with multiple lentigines multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007893 MONDO:0020297 True Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007894 MONDO:0019054 True Leri pleonosteosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007895 MONDO:0019694 True platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007895 MONDO:0022800 True platyspondylic dysplasia, Torrance type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007896 MONDO:0004600 True acute monocytic leukemia monocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007896 MONDO:0018874 True acute monocytic leukemia acute myeloid leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007900 MONDO:0019284 True nonsyndromic congenital nail disorder 3 inherited isolated nail anomaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007904 MONDO:0015161 True median nodule of the upper lip multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007906 MONDO:0020088 True familial partial lipodystrophy, Dunnigan type familial partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007908 MONDO:0006574 True multiple symmetric lipomatosis lipomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007908 MONDO:0019296 True multiple symmetric lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007909 MONDO:0019296 True familial multiple lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007915 MONDO:0004670 True systemic lupus erythematosus lupus erythematosus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007916 MONDO:0018178 True primary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007918 MONDO:0002254 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007918 MONDO:0019118 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007919 MONDO:0019313 True lymphatic malformation 1 lymphatic malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007920 MONDO:0019313 True lymphatic malformation 5 lymphatic malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007921 MONDO:0002254 True yellow nail syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007921 MONDO:0019175 True yellow nail syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007922 MONDO:0002254 True lymphedema-distichiasis syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0000426 True Bannayan-Riley-Ruvalcaba syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0015159 True Bannayan-Riley-Ruvalcaba syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0015185 True Bannayan-Riley-Ruvalcaba syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0017623 True Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0019716 True Bannayan-Riley-Ruvalcaba syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007925 MONDO:0003847 True myelodysplastic syndrome associated with isolated del(5q) hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007925 MONDO:0018881 True myelodysplastic syndrome associated with isolated del(5q) myelodysplastic syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007927 MONDO:0015496 True congenital macroglossia macroglossia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007930 MONDO:0009276 True Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007931 MONDO:0000390 True vitelliform macular dystrophy 2 vitelliform macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007932 MONDO:0005150 True age related macular degeneration 2 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007935 MONDO:0003005 True cystoid macular edema macular retinal edema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007938 MONDO:0010765 True 46,XY sex reversal 4 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007939 MONDO:0800188 True malignant hyperthermia, susceptibility to, 2 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007940 MONDO:0800188 True malignant hyperthermia, susceptibility to, 3 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007943 MONDO:0015161 True Nager acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007944 MONDO:0002457 True Treacher Collins syndrome 1 Treacher-Collins syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007946 MONDO:0003569 True jaw-winking syndrome cranial nerve neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007947 MONDO:0017310 True Marfan syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007949 MONDO:0015161 True Marshall syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007949 MONDO:0019287 True Marshall syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007950 MONDO:0002724 True mastocytosis mast cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007950 MONDO:0004805 True mastocytosis leukocyte disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007953 MONDO:0002232 True Binder syndrome nasal cavity disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007953 MONDO:0015161 True Binder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007956 MONDO:0016643 True Pai syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007958 MONDO:0015277 True familial medullary thyroid carcinoma medullary thyroid gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007959 MONDO:0002913 True medulloblastoma cerebellar neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007959 MONDO:0005564 True medulloblastoma embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007963 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 1 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007964 MONDO:0000426 True melanoma, cutaneous malignant, susceptibility to, 2 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007964 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 2 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007967 MONDO:0015356 True melanoma and neural system tumor syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0002098 True Melkersson-Rosenthal syndrome facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007970 MONDO:0017198 True melorheostosis osteopetrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007971 MONDO:0018230 True delayed membranous cranial ossification skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007972 MONDO:0006744 True Meniere disease endolymphatic hydrops SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007974 MONDO:0100172 True intellectual disability, autosomal dominant 1 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007977 MONDO:0018230 True mesomelic dysplasia, Kantaputra type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007979 MONDO:0003847 True metachondromatosis hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007979 MONDO:0005381 True metachondromatosis bone disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007982 MONDO:0005516 True metaphyseal chondrodysplasia, Jansen type osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007982 MONDO:0018230 True metaphyseal chondrodysplasia, Jansen type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007983 MONDO:0005516 True Schmid metaphyseal chondrodysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007983 MONDO:0018230 True Schmid metaphyseal chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007984 MONDO:0018230 True metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007986 MONDO:0018240 True metatropic dysplasia TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007987 MONDO:0016763 True Kniest dysplasia spondylometaphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007987 MONDO:0022800 True Kniest dysplasia type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007988 MONDO:0000426 True autosomal dominant primary microcephaly autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007988 MONDO:0002320 True autosomal dominant primary microcephaly congenital nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007988 MONDO:0016056 True autosomal dominant primary microcephaly isolated congenital microcephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007989 MONDO:0011119 True congenital microcoria iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007990 MONDO:0005093 True multiple benign circumferential skin creases on limbs skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007991 MONDO:0015159 True microcephaly-deafness-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007999 MONDO:0016296 True holoprosencephaly 2 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008000 MONDO:0100246 True migraine with or without aura, susceptibility to, 1 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008004 MONDO:0019817 True familial mitral valve prolapse congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002098 True Mobius syndrome facial nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008007 MONDO:0002220 True tooth ankylosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008007 MONDO:0002257 True tooth ankylosis ankylosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008009 MONDO:0000426 True monilethrix autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008013 MONDO:0016874 True chromosome 9p deletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008015 MONDO:0002467 True motion sickness inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008016 MONDO:0019942 True trismus-pseudocamptodactyly syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008018 MONDO:0000426 True Muir-Torre syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008019 MONDO:0003847 True mullerian aplasia and hyperandrogenism hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008019 MONDO:0015830 True mullerian aplasia and hyperandrogenism partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008021 MONDO:0016063 True Cowden syndrome 1 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008023 MONDO:0100309 True muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008026 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant childhood-onset proximal spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008029 MONDO:0016106 True Bethlem myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008029 MONDO:0019950 True Bethlem myopathy congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008030 MONDO:0001347 True facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008031 MONDO:0001347 True facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008039 MONDO:0020010 True tropical spastic paraparesis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008040 MONDO:0020076 True transient myeloproliferative syndrome myeloproliferative neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008043 MONDO:0100309 True myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008044 MONDO:0000903 True myoclonic dystonia 11 myoclonus-dystonia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008045 MONDO:0001516 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008045 MONDO:0024257 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008046 MONDO:0019052 True autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008048 MONDO:0000426 True autosomal dominant centronuclear myopathy autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008048 MONDO:0002921 True autosomal dominant centronuclear myopathy congenital structural myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008048 MONDO:0018947 True autosomal dominant centronuclear myopathy centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008049 MONDO:0018949 True myopathy, distal, infantile-onset distal myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008050 MONDO:0016195 True MYH7-related skeletal myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008050 MONDO:0018949 True MYH7-related skeletal myopathy distal myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008051 MONDO:0019952 True tubular aggregate myopathy congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008053 MONDO:0001384 True myopia 2, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008054 MONDO:0016367 True juvenile dermatomyositis dermatomyositis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008054 MONDO:0018010 True juvenile dermatomyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008055 MONDO:0003847 True myotonia congenita, autosomal dominant hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008055 MONDO:0009710 True myotonia congenita, autosomal dominant Thomsen and Becker disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008056 MONDO:0016107 True myotonic dystrophy type 1 myotonic dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008058 MONDO:0019952 True cylindrical spirals myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008059 MONDO:0017666 True Naegeli-Franceschetti-Jadassohn syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008059 MONDO:0019287 True Naegeli-Franceschetti-Jadassohn syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008059 MONDO:0019289 True Naegeli-Franceschetti-Jadassohn syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008060 MONDO:0019284 True nonsyndromic congenital nail disorder 1 inherited isolated nail anomaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008061 MONDO:0000426 True nail-patella syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008061 MONDO:0002254 True nail-patella syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008061 MONDO:0018234 True nail-patella syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008073 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 1 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008073 MONDO:0008264 True familial juvenile hyperuricemic nephropathy type 1 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0002546 True schwannomatosis schwannoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0019289 True schwannomatosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0019755 True schwannomatosis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008076 MONDO:0006683 True amyotrophic neuralgia brachial plexus neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008082 MONDO:0000426 True multiple endocrine neoplasia type 2B autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008082 MONDO:0019003 True multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008086 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1A hereditary sensory and autonomic neuropathy type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008087 MONDO:0020127 True hereditary neuropathy with liability to pressure palsies hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008087 MONDO:0022754 True hereditary neuropathy with liability to pressure palsies chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008090 MONDO:0015134 True cyclic hematopoiesis constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008092 MONDO:0003847 True hereditary neutrophilia hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008092 MONDO:0004805 True hereditary neutrophilia leukocyte disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0016231 True familial multiple nevi flammei capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0019293 True familial multiple nevi flammei skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008097 MONDO:0019755 True linear nevus sebaceous syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008098 MONDO:0018230 True mesomelic dwarfism, Nievergelt type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008099 MONDO:0016293 True congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008102 MONDO:0012061 True sick sinus syndrome 2, autosomal dominant familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008104 MONDO:0018997 True Noonan syndrome 1 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008106 MONDO:0005712 True nystagmus 2, congenital, autosomal dominant congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008111 MONDO:0018230 True oculodentodigital dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008111 MONDO:0019287 True oculodentodigital dysplasia ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008113 MONDO:0015161 True Schilbach-Rott syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008114 MONDO:0005618 True obsessive-compulsive disorder anxiety disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008115 MONDO:0015267 True Feingold syndrome type 1 Feingold syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008116 MONDO:0016106 True oculopharyngeal muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008119 MONDO:0015548 True spinocerebellar ataxia type 1 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008119 MONDO:0019792 True spinocerebellar ataxia type 1 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008123 MONDO:0000426 True autosomal dominant omodysplasia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008123 MONDO:0017136 True autosomal dominant omodysplasia omodysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008125 MONDO:0019284 True nonsyndromic congenital nail disorder 5 inherited isolated nail anomaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008130 MONDO:0015159 True ophthalmoplegia-intellectual disability-lingua scrotalis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008132 MONDO:0020478 True optic atrophy with demyelinating disease of CNS Leber plus disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008133 MONDO:0016387 True optic atrophy 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008133 MONDO:0020250 True optic atrophy 3 autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008134 MONDO:0016387 True autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008134 MONDO:0020250 True autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008135 MONDO:0043878 True optic atrophy 13 with retinal and foveal abnormalities hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008139 MONDO:0019054 True OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008139 MONDO:0019060 True OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008142 MONDO:0018381 True Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008142 MONDO:0018383 True Thiemann disease, familial form osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008145 MONDO:0018230 True Ollier disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008145 MONDO:0019060 True Ollier disease bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008150 MONDO:0002081 True osteoglophonic dwarfism musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008150 MONDO:0003847 True osteoglophonic dwarfism hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008152 MONDO:0019707 True multicentric carpo-tarsal osteolysis with or without nephropathy primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008153 MONDO:0021154 True progressive osseous heteroplasia dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008155 MONDO:0017198 True osteomesopyknosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008156 MONDO:0020645 True autosomal dominant osteopetrosis 2 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008157 MONDO:0002254 True Buschke-Ollendorff syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008161 MONDO:0016910 True otodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008164 MONDO:0005349 True otosclerosis 1 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008165 MONDO:0020102 True southeast Asian ovalocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008167 MONDO:0002378 True dermoid cyst of ovary dermoid cyst SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008167 MONDO:0003281 True dermoid cyst of ovary ovarian cystic teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008168 MONDO:0000646 True ovarian fibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008168 MONDO:0005167 True ovarian fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008170 MONDO:0001416 True ovarian cancer female reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008170 MONDO:0021068 True ovarian cancer ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008171 MONDO:0005240 True nephrolithiasis kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008172 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal dominant primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008173 MONDO:0016471 True pachyonychia congenita 1 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008174 MONDO:0016471 True pachyonychia congenita 2 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008175 MONDO:0019707 True pacman dysplasia primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008176 MONDO:0005382 True Paget disease of bone 3 bone Paget disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008177 MONDO:0021165 True extramammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008178 MONDO:0000507 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008179 MONDO:0003847 True paroxysmal extreme pain disorder hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008182 MONDO:0015161 True nasopalpebral lipoma-coloboma syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008183 MONDO:0002356 True annular pancreas pancreas disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008187 MONDO:0031240 True panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008192 MONDO:0000448 True paragangliomas 1 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008195 MONDO:0016120 True paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0018240 True parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0019698 True parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008197 MONDO:0018953 True parietal foramina 1 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008198 MONDO:0018230 True parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008200 MONDO:0008199 True autosomal dominant Parkinson disease 1 late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008201 MONDO:0002254 True Perry syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008201 MONDO:0003847 True Perry syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008205 MONDO:0018234 True patella aplasia/hypoplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008207 MONDO:0002342 True chondromalacia patellae chondromalacia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008209 MONDO:0011827 True Char syndrome patent ductus arteriosus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008210 MONDO:0020381 True patterned macular dystrophy 1 patterned macular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008214 MONDO:0000426 True Pelger-Huet anomaly autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008215 MONDO:0016956 True adult-onset autosomal dominant demyelinating leukodystrophy partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008215 MONDO:0019046 True adult-onset autosomal dominant demyelinating leukodystrophy leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008217 MONDO:0018234 True pelvis-shoulder dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008217 MONDO:0019054 True pelvis-shoulder dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008218 MONDO:0006594 True Hailey-Hailey disease pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008218 MONDO:0019268 True Hailey-Hailey disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008219 MONDO:0006594 True pemphigus vulgaris pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0008221 MONDO:0019232 True prolidase deficiency inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008222 MONDO:0000995 True Andersen-Tawil syndrome familial periodic paralysis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008222 MONDO:0019119 True Andersen-Tawil syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008222 MONDO:0019171 True Andersen-Tawil syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008223 MONDO:0000995 True hypokalemic periodic paralysis familial periodic paralysis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008224 MONDO:0000995 True hyperkalemic periodic paralysis familial periodic paralysis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008228 MONDO:0006873 True pernicious anemia nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008231 MONDO:0002036 True Peyronie disease penile disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008234 MONDO:0000426 True multiple endocrine neoplasia type 2A autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0018234 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0019054 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008244 MONDO:0000426 True piebaldism autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008244 MONDO:0019290 True piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008245 MONDO:0019290 True piebald trait-neurologic defects syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008250 MONDO:0000050 True isolated growth hormone deficiency type II isolated congenital growth hormone deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008259 MONDO:0002076 True familial spontaneous pneumothorax pneumothorax SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008260 MONDO:0019276 True Kindler syndrome inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008261 MONDO:0016382 True hereditary sclerosing poikiloderma, Weary type hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0015856 True Poland syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0019054 True Poland syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008263 MONDO:0004691 True polycystic kidney disease 1 autosomal dominant polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008264 MONDO:0019741 True autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008265 MONDO:0000447 True polycystic liver disease 1 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008269 MONDO:0017425 True polydactyly of a biphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008270 MONDO:0017425 True polydactyly of a triphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008271 MONDO:0017425 True polydactyly of an index finger preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008272 MONDO:0017425 True polysyndactyly 4 preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008274 MONDO:0000845 True polyostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008275 MONDO:0019707 True familial expansile osteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008276 MONDO:0000426 True generalized juvenile polyposis/juvenile polyposis coli autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008276 MONDO:0017380 True generalized juvenile polyposis/juvenile polyposis coli juvenile polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008280 MONDO:0015185 True Peutz-Jeghers syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0004335 True Cronkhite-Canada syndrome digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0015185 True Cronkhite-Canada syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008283 MONDO:0019287 True Cronkhite-Canada syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008286 MONDO:0019054 True crossed polysyndactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without ocular anomalies familial porencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008292 MONDO:0017675 True punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008294 MONDO:0002520 True acute intermittent porphyria hepatic porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008295 MONDO:0015104 True sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008296 MONDO:0015104 True familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008297 MONDO:0002520 True variegate porphyria hepatic porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008298 MONDO:0018234 True postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008298 MONDO:0019054 True postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0015770 True Prader-Willi syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0019040 True Prader-Willi syndrome chromosomal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008301 MONDO:0002254 True Guttmacher syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008301 MONDO:0003847 True Guttmacher syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008302 MONDO:0019165 True centra precocious puberty 1 central precocious puberty SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008303 MONDO:0003847 True familial male-limited precocious puberty hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008303 MONDO:0015791 True familial male-limited precocious puberty peripheral precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0002254 True Currarino triad syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0018234 True Currarino triad dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008306 MONDO:0005620 True ABri amyloidosis cerebral amyloid angiopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008306 MONDO:0018591 True ABri amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0002254 True Hutchinson-Gilford progeria syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0019707 True Hutchinson-Gilford progeria syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0020732 True Hutchinson-Gilford progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0021106 True Hutchinson-Gilford progeria syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008312 MONDO:0015161 True autosomal dominant prognathism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008315 MONDO:0005836 True prostate cancer male reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008315 MONDO:0021259 True prostate cancer prostate neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008316 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal dominant hereditary thrombophilia due to congenital protein C deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0002254 True Proteus syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0017623 True Proteus syndrome PTEN hamartoma tumor syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0018230 True Proteus syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008318 MONDO:0019716 True Proteus syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008322 MONDO:0005516 True pseudoachondroplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008322 MONDO:0018230 True pseudoachondroplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008323 MONDO:0006510 True Liddle syndrome renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008327 MONDO:0001554 True exfoliation syndrome phacogenic glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008327 MONDO:0002289 True exfoliation syndrome iris disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008329 MONDO:0019161 True autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008332 MONDO:0000009 True platelet-type von Willebrand disease inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008335 MONDO:0015161 True short stature-craniofacial anomalies-genital hypoplasia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008338 MONDO:0000426 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008338 MONDO:0019942 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A distal arthrogryposis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008338 MONDO:0020937 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008339 MONDO:0021154 True antecubital pterygium syndrome dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008340 MONDO:0000728 True ptosis, hereditary congenital, 1 ptosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008343 MONDO:0016581 True pulmonary atresia with ventricular septal defect conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008346 MONDO:0001436 True pulmonary hemosiderosis hemosiderosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008346 MONDO:0015926 True pulmonary hemosiderosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008355 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 1 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008357 MONDO:0015161 True radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008359 MONDO:0018234 True radio-renal syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008359 MONDO:0019054 True radio-renal syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008364 MONDO:0005294 True Raynaud disease peripheral vascular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008368 MONDO:0015827 True autosomal dominant distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008371 MONDO:0017747 True Dowling-Degos disease disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008371 MONDO:0019289 True Dowling-Degos disease hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008373 MONDO:0000473 True retinal arterial tortuosity arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008374 MONDO:0000455 True retinal cone dystrophy type 1 cone dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008375 MONDO:0005283 True retinal detachment retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008377 MONDO:0019200 True retinitis pigmentosa 1 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008378 MONDO:0019200 True retinitis pigmentosa 9 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008379 MONDO:0019200 True retinitis pigmentosa 10 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008380 MONDO:0004338 True retinoblastoma retinal cell cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008381 MONDO:0019200 True dominant pericentral pigmentary retinopathy retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008383 MONDO:0000589 True rheumatoid arthritis autoimmune disorder of musculoskeletal system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008383 MONDO:0005578 True rheumatoid arthritis arthritic joint disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008386 MONDO:0019187 True Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008387 MONDO:0003847 True ring dermoid of cornea hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008388 MONDO:0019278 True ringed hair disease hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008389 MONDO:0019978 True autosomal dominant Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008397 MONDO:0002254 True aplasia of lacrimal and salivary glands syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008397 MONDO:0003847 True aplasia of lacrimal and salivary glands hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008401 MONDO:0000385 True pleomorphic adenoma benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008401 MONDO:0017168 True pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008401 MONDO:0021043 True pleomorphic adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008403 MONDO:0019054 True scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008403 MONDO:0019294 True scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0015161 True scalp-ear-nipple syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0019287 True scalp-ear-nipple syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008404 MONDO:0019294 True scalp-ear-nipple syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008407 MONDO:0016187 True neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008407 MONDO:0024257 True neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008408 MONDO:0000426 True scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008408 MONDO:0024257 True scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0016195 True congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0019952 True congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008411 MONDO:0002254 True ulnar-mammary syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008412 MONDO:0015254 True intestinal schistosomiasis schistosomiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008414 MONDO:0005090 True schizophrenia 1 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008416 MONDO:0017666 True palmoplantar keratoderma-sclerodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008420 MONDO:0006566 True seborrheic keratosis keratosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008421 MONDO:0015161 True flat face-microstomia-ear anomaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008422 MONDO:0000426 True autosomal dominant sideroblastic anemia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008422 MONDO:0020099 True autosomal dominant sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008425 MONDO:0015159 True omphalocele syndrome, Shprintzen-Goldberg type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0015159 True Shprintzen-Goldberg syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0015338 True Shprintzen-Goldberg syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008426 MONDO:0017310 True Shprintzen-Goldberg syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008428 MONDO:0000429 True septooptic dysplasia autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008428 MONDO:0002254 True septooptic dysplasia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008428 MONDO:0013099 True septooptic dysplasia combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008433 MONDO:0000402 True small cell lung carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008433 MONDO:0005138 True small cell lung carcinoma lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008433 MONDO:0005454 True small cell lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008434 MONDO:0000761 True Smith-Magenis syndrome syndrome caused by partial chromosomal deletion SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008434 MONDO:0003847 True Smith-Magenis syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008434 MONDO:0015159 True Smith-Magenis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008436 MONDO:0000473 True Sneddon syndrome arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008437 MONDO:0019064 True hereditary spastic paraplegia 3A hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008438 MONDO:0019064 True hereditary spastic paraplegia 4 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008440 MONDO:0015087 True spastic paraplegia-nephritis-deafness syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008442 MONDO:0015087 True spastic paraplegia-neuropathy-poikiloderma syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008443 MONDO:0015087 True spastic paraplegia-precocious puberty syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008445 MONDO:0015159 True delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008447 MONDO:0019350 True hereditary spherocytosis type 1 hereditary spherocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008451 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008453 MONDO:0001516 True adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008453 MONDO:0024257 True adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008457 MONDO:0019793 True spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0005144 True spinocerebellar ataxia type 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0015548 True spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008458 MONDO:0019792 True spinocerebellar ataxia type 2 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008460 MONDO:0018234 True splenogonadal fusion-limb defects-micrognathia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008460 MONDO:0019054 True splenogonadal fusion-limb defects-micrognathia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008464 MONDO:0016576 True split hand-foot malformation 1 split hand-foot malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008465 MONDO:0018237 True Patterson-Stevenson-Fontaine syndrome acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008466 MONDO:0018234 True Karsch-Neugebauer syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008466 MONDO:0019054 True Karsch-Neugebauer syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008467 MONDO:0015161 True Czeizel-Losonci syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008468 MONDO:0024512 True spondyloarthropathy, susceptibility to, 2 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008470 MONDO:0016761 True spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008471 MONDO:0016761 True spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008471 MONDO:0022800 True spondyloepiphyseal dysplasia congenita type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008473 MONDO:0018240 True spondyloepimetaphyseal dysplasia, Maroteaux type TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008474 MONDO:0000426 True spondyloepiphyseal dysplasia tarda, autosomal dominant autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008474 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008475 MONDO:0000836 True spondylolisthesis disease of bone structure SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008476 MONDO:0016763 True spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008476 MONDO:0022800 True spondyloepimetaphyseal dysplasia, Strudwick type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008476 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008477 MONDO:0016763 True spondylometaphyseal dysplasia, Kozlowski type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008477 MONDO:0018240 True spondylometaphyseal dysplasia, Kozlowski type TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008478 MONDO:0016763 True spondylometaphyseal dysplasia, Schmidt type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008478 MONDO:0022800 True spondylometaphyseal dysplasia, Schmidt type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008479 MONDO:0016763 True spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008479 MONDO:0022800 True spondylometaphyseal dysplasia, 'corner fracture' type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008482 MONDO:0015929 True Sprengel deformity thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008483 MONDO:0000723 True stuttering, familial persistent, 1 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008485 MONDO:0006607 True sebocystomatosis sebaceous gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008487 MONDO:0005151 True polycystic ovary syndrome endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008488 MONDO:0015159 True holoprosencephaly-radial heart renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008490 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal dominant otospondylomegaepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008490 MONDO:0015161 True otospondylomegaepiphyseal dysplasia, autosomal dominant multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008491 MONDO:0005071 True stiff-person syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008493 MONDO:0020102 True overhydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008494 MONDO:0020102 True cryohydrocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008495 MONDO:0018795 True platelet storage pool deficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008497 MONDO:0018795 True Stormorken syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008504 MONDO:0042981 True supravalvular aortic stenosis aortic valve stenosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008510 MONDO:0019054 True symphalangism with multiple anomalies of hands and feet congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008511 MONDO:0000426 True proximal symphalangism autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008511 MONDO:0019054 True proximal symphalangism congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008512 MONDO:0019530 True syndactyly type 1 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008514 MONDO:0019530 True syndactyly type 3 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008515 MONDO:0019530 True syndactyly type 4 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008516 MONDO:0019530 True syndactyly type 5 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008518 MONDO:0001411 True calcaneonavicular coalition synostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008519 MONDO:0017923 True multiple synostoses syndrome 1 multiple synostoses syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008521 MONDO:0019054 True tarsal-carpal coalition syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008534 MONDO:0019293 True generalized essential telangiectasia skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008535 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 1 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008538 MONDO:0003346 True temporal arteritis central nervous system vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008540 MONDO:0019054 True extensor tendons of finger anomalies congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008541 MONDO:0002329 True spermatic cord torsion testicular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008542 MONDO:0005453 True tetralogy of fallot congenital heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008542 MONDO:0016581 True tetralogy of fallot conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008544 MONDO:0018234 True tetramelic monodactyly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008544 MONDO:0019054 True tetramelic monodactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008546 MONDO:0017042 True thanatophoric dysplasia type 1 thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008547 MONDO:0017042 True thanatophoric dysplasia type 2 thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008551 MONDO:0015929 True thoracolaryngopelvic dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008551 MONDO:0019691 True thoracolaryngopelvic dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008552 MONDO:0000009 True platelet-type bleeding disorder 16 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008553 MONDO:0000009 True platelet-type bleeding disorder 17 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008554 MONDO:0019111 True thrombocythemia 1 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008555 MONDO:0100241 True thrombocytopenia 2 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008557 MONDO:0016910 True Paris-Trousseau thrombocytopenia partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008557 MONDO:0020117 True Paris-Trousseau thrombocytopenia alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0004680 True autoimmune thrombocytopenic purpura primary thrombocytopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0019098 True autoimmune thrombocytopenic purpura autoimmune thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008559 MONDO:0100240 True thrombophilia due to thrombin defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008560 MONDO:0100240 True thrombophilia due to activated protein C resistance inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008562 MONDO:0019054 True thumb deformity-alopecia-pigmentation anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008563 MONDO:0019054 True thumb stiffness-brachydactyly-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008565 MONDO:0015476 True familial thyroglossal duct cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008567 MONDO:0017896 True thyroid cancer, nonmedullary, 1 familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008572 MONDO:0018234 True tibia, hypoplasia or aplasia of, with polydactyly dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008572 MONDO:0019054 True tibia, hypoplasia or aplasia of, with polydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008582 MONDO:0019287 True tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008583 MONDO:0005031 True inherited torticollis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008585 MONDO:0001641 True HELLP syndrome severe pre-eclampsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008590 MONDO:0003233 True tremor, hereditary essential, 1 essential tremor SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008592 MONDO:0018230 True tricho-dento-osseous syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008592 MONDO:0019287 True tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008596 MONDO:0000426 True trichorhinophalangeal syndrome type I autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008596 MONDO:0017951 True trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008597 MONDO:0000426 True trichorhinophalangeal syndrome, type III autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008597 MONDO:0017951 True trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008598 MONDO:0019278 True trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008599 MONDO:0003543 True trigeminal neuralgia trigeminal nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008599 MONDO:0016374 True trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008603 MONDO:0018065 True trigonocephaly 1 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008607 MONDO:0019054 True triphalangeal thumbs-brachyectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008610 MONDO:0001703 True blue color blindness color vision disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008610 MONDO:0003847 True blue color blindness hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008611 MONDO:0018234 True humerus trochlea aplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008611 MONDO:0019054 True humerus trochlea aplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008612 MONDO:0001734 True tuberous sclerosis 1 tuberous sclerosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008617 MONDO:0005265 True inflammatory bowel disease 11 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008618 MONDO:0018230 True mesomelic dwarfism, Reinhardt-Pfeiffer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008619 MONDO:0018230 True ulna metaphyseal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008620 MONDO:0018230 True upper limb mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008621 MONDO:0019278 True uncombable hair syndrome hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008622 MONDO:0019287 True tricho-retino-dento-digital syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008627 MONDO:0006295 True ureter cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0008627 MONDO:0021111 True ureter cancer ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008628 MONDO:0001926 True ureterocele ureteral disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008633 MONDO:0000426 True Muckle-Wells syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008633 MONDO:0016168 True Muckle-Wells syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008637 MONDO:0016064 True bifid uvula cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008638 MONDO:0004634 True varicose disease vein disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008642 MONDO:0002254 True VACTERL/vater association syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008645 MONDO:0015161 True ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008647 MONDO:0024573 True hypertrophic cardiomyopathy 1 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008650 MONDO:0015161 True posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008652 MONDO:0003847 True congenital vertical talus hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008652 MONDO:0017427 True congenital vertical talus congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008653 MONDO:0017329 True vesicoureteral reflux 1 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008654 MONDO:0020380 True spinocerebellar ataxia 27A autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008659 MONDO:0019220 True transcobalamin I deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008660 MONDO:0000044 True autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008660 MONDO:0000426 True autosomal dominant hypophosphatemic rickets autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008661 MONDO:0007179 True vitiligo autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008668 MONDO:0019565 True von Willebrand disease 1 hereditary von Willebrand disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008670 MONDO:0018094 True Waardenburg syndrome type 1 Waardenburg syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008673 MONDO:0015161 True acrofacial dysostosis, Weyers type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008673 MONDO:0018237 True acrofacial dysostosis, Weyers type acrofacial dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008673 MONDO:0019287 True acrofacial dysostosis, Weyers type ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0015161 True Freeman-Sheldon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0019942 True Freeman-Sheldon syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008676 MONDO:0015748 True white sponge nevus 1 hereditary mucosal leukokeratosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008678 MONDO:0002254 True Williams syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008678 MONDO:0016906 True Williams syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008679 MONDO:0003321 True Wilms tumor 1 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008680 MONDO:0003321 True Wilms tumor 2 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0015356 True WAGR syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0016893 True WAGR syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008681 MONDO:0020040 True WAGR syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008682 MONDO:0000426 True Denys-Drash syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008682 MONDO:0002254 True Denys-Drash syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008682 MONDO:0020040 True Denys-Drash syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008683 MONDO:0003321 True Wilms tumor 3 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0015159 True Wolf-Hirschhorn syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0022762 True Wolf-Hirschhorn syndrome chromosome 4 short arm deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008685 MONDO:0000992 True Wolff-Parkinson-White syndrome heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008686 MONDO:0019278 True isolated familial wooly hair disorder hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008688 MONDO:0001713 True WT limb-blood syndrome inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008689 MONDO:0017910 True dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0017774 True abetalipoproteinemia hypobetalipoproteinemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0020044 True abetalipoproteinemia autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0020127 True abetalipoproteinemia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008693 MONDO:0002254 True ablepharon macrostomia syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008693 MONDO:0003847 True ablepharon macrostomia syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008694 MONDO:0015159 True pseudoprogeria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0016987 True chorea-acanthocytosis neuroacanthocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0019268 True chorea-acanthocytosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008695 MONDO:0020127 True chorea-acanthocytosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008696 MONDO:0019268 True acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008698 MONDO:0003749 True achalasia esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008699 MONDO:0006025 True achalasia microcephaly syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008700 MONDO:0005516 True acheiropody osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008700 MONDO:0019713 True acheiropody non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008701 MONDO:0019648 True achondrogenesis type IA achondrogenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008702 MONDO:0019648 True achondrogenesis type II achondrogenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008702 MONDO:0022800 True achondrogenesis type II type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008703 MONDO:0019696 True acromesomelic dysplasia 2A acromesomelic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008704 MONDO:0017855 True short-limb skeletal dysplasia with severe combined immunodeficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008705 MONDO:0002561 True lysosomal acid phosphatase deficiency lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008706 MONDO:0015161 True Ackerman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008706 MONDO:0019287 True Ackerman syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008707 MONDO:0015161 True acro-renal-mandibular syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008708 MONDO:0002254 True acrocallosal syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008708 MONDO:0015159 True acrocallosal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008709 MONDO:0015338 True acrocephalopolydactyly syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008710 MONDO:0019012 True RAB23-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008712 MONDO:0015161 True acrocraniofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008712 MONDO:0018237 True acrocraniofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008713 MONDO:0004689 True acrodermatitis enteropathica inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008713 MONDO:0017764 True acrodermatitis enteropathica disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008714 MONDO:0015159 True acrofacial dysostosis Rodriguez type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008714 MONDO:0018237 True acrofacial dysostosis Rodriguez type acrofacial dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008715 MONDO:0018237 True acrofrontofacionasal dysostosis acrofacial dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008716 MONDO:0019303 True acrogeria premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008717 MONDO:0019696 True acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008718 MONDO:0019119 True Morvan syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008721 MONDO:0017714 True medium chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008722 MONDO:0017714 True short chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008723 MONDO:0017713 True very long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008724 MONDO:0015168 True adducted thumbs-arthrogryposis syndrome, Christian type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008725 MONDO:0018479 True congenital lipoid adrenal hyperplasia due to STAR deficency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008725 MONDO:0019852 True congenital lipoid adrenal hyperplasia due to STAR deficency inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008726 MONDO:0008803 True Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008727 MONDO:0018479 True congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008728 MONDO:0018479 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008729 MONDO:0018479 True congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008730 MONDO:0018479 True congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0015129 True familial adrenal hypoplasia with absent pituitary luteinizing hormone chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0015770 True familial adrenal hypoplasia with absent pituitary luteinizing hormone congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008731 MONDO:0020040 True familial adrenal hypoplasia with absent pituitary luteinizing hormone 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008733 MONDO:0015129 True familial glucocorticoid deficiency chronic primary adrenal insufficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008740 MONDO:0015159 True agnathia-otocephaly complex multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008741 MONDO:0015161 True PAGOD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008741 MONDO:0020040 True PAGOD syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008742 MONDO:0000426 True autosomal dominant severe congenital neutropenia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008742 MONDO:0018542 True autosomal dominant severe congenital neutropenia severe congenital neutropenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008743 MONDO:0015159 True Stimmler syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008744 MONDO:0015161 True alar cartilages hypoplasia-coloboma-telecanthus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008745 MONDO:0018135 True oculocutaneous albinism type 1A oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008746 MONDO:0018910 True oculocutaneous albinism type 2 oculocutaneous albinism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008747 MONDO:0018910 True oculocutaneous albinism type 3 oculocutaneous albinism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008749 MONDO:0019992 True pseudohypoparathyroidism type 2 pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008750 MONDO:0015161 True microcephaly-albinism-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008752 MONDO:0019046 True Alexander disease leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008753 MONDO:0017307 True alkaptonuria disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008754 MONDO:0019287 True alopecia - contractures - dwarfism - intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008755 MONDO:0015650 True Moynahan syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008755 MONDO:0019289 True Moynahan syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008756 MONDO:0002254 True alopecia - intellectual disability syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008757 MONDO:0000005 True alopecia universalis congenita alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0020127 True mitochondrial DNA depletion syndrome 4a hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0024237 True mitochondrial DNA depletion syndrome 4a inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0100512 True mitochondrial DNA depletion syndrome 4a mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0016790 True oxoglutaricaciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0020127 True oxoglutaricaciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0006025 True beta-ketothiolase deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0019215 True beta-ketothiolase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008760 MONDO:0019229 True beta-ketothiolase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008762 MONDO:0006025 True autosomal recessive Alport syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008762 MONDO:0018965 True autosomal recessive Alport syndrome Alport syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008763 MONDO:0002254 True Alstrom syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008763 MONDO:0005308 True Alstrom syndrome ciliopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008763 MONDO:0006025 True Alstrom syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008764 MONDO:0018998 True Leber congenital amaurosis 1 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008765 MONDO:0018998 True Leber congenital amaurosis 2 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008766 MONDO:0019118 True amaurosis-hypertrichosis syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008771 MONDO:0019507 True amelogenesis imperfecta type 1G amelogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008774 MONDO:0017351 True 2-aminoadipic 2-oxoadipic aciduria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008777 MONDO:0000763 True gelatinous drop-like corneal dystrophy epithelial and subepithelial corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008777 MONDO:0003847 True gelatinous drop-like corneal dystrophy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008777 MONDO:0020212 True gelatinous drop-like corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008783 MONDO:0001822 True Tangier disease hypolipoproteinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008783 MONDO:0017773 True Tangier disease hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008786 MONDO:0015194 True pyridoxine-responsive sideroblastic anemia sideroblastic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008787 MONDO:0000104 True microcytic anemia with liver iron overload anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008787 MONDO:0016624 True microcytic anemia with liver iron overload inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008787 MONDO:0017763 True microcytic anemia with liver iron overload disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008788 MONDO:0016624 True IRIDA syndrome inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008791 MONDO:0000819 True anencephaly 1 anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008791 MONDO:0015159 True anencephaly 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008792 MONDO:0019296 True familial angiolipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008795 MONDO:0002254 True aniridia-cerebellar ataxia-intellectual disability syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008796 MONDO:0015159 True aniridia-renal agenesis-psychomotor retardation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008797 MONDO:0006999 True anodontia tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008798 MONDO:0019211 True nonsyndromic congenital nail disorder 4 isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008799 MONDO:0016073 True anophthalmia/microphthalmia-esophageal atresia syndrome syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008800 MONDO:0006025 True microphthalmia with limb anomalies autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008803 MONDO:0015338 True Antley-Bixler syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008806 MONDO:0018234 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008806 MONDO:0019054 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008808 MONDO:0019175 True aplasia cutis congenita-intestinal lymphangiectasia syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008808 MONDO:0019294 True aplasia cutis congenita-intestinal lymphangiectasia syndrome mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008810 MONDO:0001336 True familial apolipoprotein C-II deficiency familial hyperlipidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008810 MONDO:0018637 True familial apolipoprotein C-II deficiency familial chylomicronemia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008812 MONDO:0019287 True AREDYLD syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008813 MONDO:0020022 True arachnoid cyst central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008817 MONDO:0018870 True arterial calcification, generalized, of infancy, 1 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008822 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis-renal dysfunction-cholestasis syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008823 MONDO:0015168 True arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008824 MONDO:0002254 True fetal akinesia deformation sequence syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008825 MONDO:0015168 True arthrogryposis multiplex congenita-whistling face syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008826 MONDO:0015168 True arthrogryposis-hyperkeratosis syndrome, lethal form arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008828 MONDO:0006025 True camptodactyly-arthropathy-coxa vara-pericarditis syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008830 MONDO:0019251 True aspartylglucosaminuria oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008830 MONDO:0800088 True aspartylglucosaminuria lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008831 MONDO:0018770 True asphyxiating thoracic dystrophy 1 Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008832 MONDO:0018677 True right atrial isomerism visceral heterotaxy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008833 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 1 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008838 MONDO:0016612 True ataxia - deafness - intellectual disability syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0005071 True ataxia telangiectasia nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0019852 True ataxia telangiectasia inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0004689 True atransferrinemia inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0016624 True atransferrinemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008846 MONDO:0017763 True atransferrinemia disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008847 MONDO:0003847 True atrichia with papular lesions hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008847 MONDO:0004907 True atrichia with papular lesions alopecia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008849 MONDO:0018855 True atrophoderma vermiculata keratosis pilaris atrophicans SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008853 MONDO:0015161 True Barber-Say syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008853 MONDO:0019287 True Barber-Say syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008854 MONDO:0015229 True Bardet-Biedl syndrome 1 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008855 MONDO:0031520 True MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008857 MONDO:0015161 True Beemer-Ertbruggen syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008858 MONDO:0005071 True Behr syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008858 MONDO:0006025 True Behr syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008861 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008862 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008863 MONDO:0015905 True sitosterolemia syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008864 MONDO:0015159 True Biemond syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008867 MONDO:0001751 True biliary atresia cholestasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008869 MONDO:0019342 True Seckel syndrome 1 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008870 MONDO:0015159 True bird headed-dwarfism, Montreal type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008871 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type I osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008872 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type II osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008874 MONDO:0015126 True Bangstad syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008875 MONDO:0015161 True blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0002254 True Bloom syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0005570 True Bloom syndrome hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0006025 True Bloom syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0015951 True Bloom syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0020629 True Bloom syndrome microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008877 MONDO:0019216 True blue diaper syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008878 MONDO:0018230 True bone dysplasia, lethal Holmgren type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008879 MONDO:0006025 True Bowen-Conradi syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008879 MONDO:0015159 True Bowen-Conradi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008881 MONDO:0019698 True kyphomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008884 MONDO:0019287 True oculoosteocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008885 MONDO:0002254 True Elsahy-Waters syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008885 MONDO:0015159 True Elsahy-Waters syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008889 MONDO:0005294 True thromboangiitis obliterans peripheral vascular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008891 MONDO:0024257 True riboflavin transporter deficiency hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008892 MONDO:0015762 True progressive familial intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008893 MONDO:0015159 True C syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008893 MONDO:0015338 True C syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008894 MONDO:0019280 True cataract-hypertrichosis-intellectual disability syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008894 MONDO:0019287 True cataract-hypertrichosis-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008895 MONDO:0003847 True hereditary arterial and articular multiple calcification syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008896 MONDO:0019698 True campomelia, Cumming type bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008898 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 2 dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008899 MONDO:0019054 True camptodactyly syndrome, Guadalajara type 2 congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008900 MONDO:0015159 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008900 MONDO:0018234 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008901 MONDO:0020120 True Tel Hashomer camptodactyly syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008903 MONDO:0000376 True lung cancer respiratory system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008903 MONDO:0003274 True lung cancer thoracic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008903 MONDO:0021117 True lung cancer lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008905 MONDO:0015979 True predisposition to invasive fungal disease due to CARD9 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008907 MONDO:0005500 True PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008907 MONDO:0017740 True PMM2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0005501 True MGAT2-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0015327 True MGAT2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0017740 True MGAT2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008910 MONDO:0003847 True carboxypeptidase N deficiency hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008913 MONDO:0031323 True cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008915 MONDO:0003847 True dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008917 MONDO:0015161 True heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008918 MONDO:0017716 True carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008919 MONDO:0017716 True systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0016801 True Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0018117 True Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0018158 True Sengers syndrome mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008923 MONDO:0017666 True autosomal recessive palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008923 MONDO:0019287 True autosomal recessive palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008926 MONDO:0006025 True COFS syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008926 MONDO:0016073 True COFS syndrome syndromic microphthalmia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008927 MONDO:0003847 True colobomatous optic disc-macular atrophy-chorioretinopathy syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008928 MONDO:0100309 True cataract-ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008931 MONDO:0019054 True Cenani-Lenz syndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008934 MONDO:0019287 True cerebellar ataxia-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008935 MONDO:0015770 True cerebellar ataxia-hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008938 MONDO:0020046 True early-onset cerebellar ataxia with retained tendon reflexes autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008943 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 2 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008944 MONDO:0018772 True Joubert syndrome 1 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008947 MONDO:0003996 True bilateral striopallidodentate calcinosis basal ganglia disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008947 MONDO:0015547 True bilateral striopallidodentate calcinosis hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0002615 True cerebrotendinous xanthomatosis xanthomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0015905 True cerebrotendinous xanthomatosis syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019046 True cerebrotendinous xanthomatosis leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019218 True cerebrotendinous xanthomatosis inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0019296 True cerebrotendinous xanthomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020044 True cerebrotendinous xanthomatosis autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020127 True cerebrotendinous xanthomatosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0020143 True cerebrotendinous xanthomatosis cerebral lipidosis with dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008955 MONDO:0008926 True cerebrooculofacioskeletal syndrome 1 COFS syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008958 MONDO:0001029 True Klippel-Feil syndrome 2, autosomal recessive Klippel-Feil syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008961 MONDO:0018995 True Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008962 MONDO:0018306 True Griscelli syndrome type 1 Griscelli syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0015541 True Chediak-Higashi syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0017305 True Chediak-Higashi syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0017739 True Chediak-Higashi syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0020127 True Chediak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0024237 True Chediak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008965 MONDO:0002254 True CHARGE syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008965 MONDO:0015770 True CHARGE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008966 MONDO:0002254 True Aagenaes syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008966 MONDO:0019175 True Aagenaes syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008967 MONDO:0018841 True congenital bile acid synthesis defect 4 congenital bile acid synthesis defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008970 MONDO:0019702 True chondrodysplasia Blomstrand type neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008972 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008973 MONDO:0015775 True chondrodysplasia punctata, Toriello type non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0019240 True Greenberg dysplasia sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0019701 True Greenberg dysplasia chondrodysplasia punctata UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008977 MONDO:0005089 True chondrosarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008978 MONDO:0002597 True chordoma notochordal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008980 MONDO:0015770 True ataxia-hypogonadism-choroidal dystrophy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008980 MONDO:0100309 True ataxia-hypogonadism-choroidal dystrophy syndrome hereditary ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008988 MONDO:0015991 True citrullinemia type I citrullinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008991 MONDO:0015161 True Verloove Vanhorick-Brubakk syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008992 MONDO:0015161 True Juberg-Hayward syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008995 MONDO:0002254 True Yunis-Varon syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008995 MONDO:0018230 True Yunis-Varon syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008998 MONDO:0016006 True Cockayne syndrome type 3 Cockayne syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0003847 True Cohen syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0015134 True Cohen syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0015159 True Cohen syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009003 MONDO:0018852 True achromatopsia 2 achromatopsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009007 MONDO:0003847 True Jalili syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009008 MONDO:0003847 True heart defect - tongue hamartoma - polysyndactyly syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009008 MONDO:0015161 True heart defect - tongue hamartoma - polysyndactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009010 MONDO:0020292 True aortic arch interruption congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009012 MONDO:0015168 True multiple pterygium-malignant hyperthermia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009014 MONDO:0000733 True cornea plana 2 cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009015 MONDO:0002254 True corneal dystrophy-perceptive deafness syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009015 MONDO:0003847 True corneal dystrophy-perceptive deafness syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009016 MONDO:0001515 True band keratopathy corneal degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009018 MONDO:0020213 True central cloudy dystrophy of François stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009019 MONDO:0000766 True congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009019 MONDO:0003847 True congenital hereditary endothelial dystrophy of cornea hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009019 MONDO:0020214 True congenital hereditary endothelial dystrophy of cornea posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009020 MONDO:0020213 True macular corneal dystrophy stromal corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009024 MONDO:0015159 True cortical blindness-intellectual disability-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009025 MONDO:0005523 True apparent mineralocorticoid excess steroid inherited metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009026 MONDO:0000426 True Costello syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009026 MONDO:0015159 True Costello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009026 MONDO:0020297 True Costello syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015338 True cranioectodermal dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015461 True cranioectodermal dysplasia short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0019287 True cranioectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009033 MONDO:0003847 True temtamy syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009033 MONDO:0015159 True temtamy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009035 MONDO:0006025 True craniometaphyseal dysplasia, autosomal recessive autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009035 MONDO:0015465 True craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009036 MONDO:0015159 True cardiocranial syndrome, Pfeiffer type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009036 MONDO:0015338 True cardiocranial syndrome, Pfeiffer type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009039 MONDO:0015338 True Baller-Gerold syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009042 MONDO:0015338 True craniotelencephalic dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009042 MONDO:0018838 True craniotelencephalic dysplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009044 MONDO:0002408 True Crigler-Najjar syndrome hereditary hyperbilirubinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0002254 True Fraser syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0006025 True Fraser syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0015161 True Fraser syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009046 MONDO:0020153 True Fraser syndrome cryptophthalmia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009050 MONDO:0003429 True Cushing disease due to pituitary adenoma functioning pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009050 MONDO:0017824 True Cushing disease due to pituitary adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009050 MONDO:0020528 True Cushing disease due to pituitary adenoma ACTH-dependent Cushing syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009052 MONDO:0019572 True cutis laxa, autosomal recessive, type 1A autosomal recessive cutis laxa type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009053 MONDO:0017569 True ALDH18A1-related de Barsy syndrome de Barsy syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009053 MONDO:0100237 True ALDH18A1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009055 MONDO:0016231 True cutis marmorata telangiectatica congenita capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009055 MONDO:0019293 True cutis marmorata telangiectatica congenita skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009058 MONDO:0004736 True cystathioninuria inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009058 MONDO:0019222 True cystathioninuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009061 MONDO:0006025 True cystic fibrosis autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009063 MONDO:0003847 True ventriculomegaly-cystic kidney disease hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009064 MONDO:0016239 True ocular cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009067 MONDO:0015962 True cystinuria inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009067 MONDO:0019216 True cystinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009071 MONDO:0015962 True hereditary renal hypouricemia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009072 MONDO:0002427 True Dandy-Walker syndrome cerebellar disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009073 MONDO:0019078 True Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009074 MONDO:0015159 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009074 MONDO:0020022 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009075 MONDO:0020022 True Dandy-Walker malformation-postaxial polydactyly syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009076 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1A hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009079 MONDO:0002254 True DOORS syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009079 MONDO:0003847 True DOORS syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009080 MONDO:0015161 True split hand-foot malformation 1 with sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009080 MONDO:0018234 True split hand-foot malformation 1 with sensorineural hearing loss dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009080 MONDO:0019054 True split hand-foot malformation 1 with sensorineural hearing loss congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009082 MONDO:0002254 True high myopia-sensorineural deafness syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009082 MONDO:0003847 True high myopia-sensorineural deafness syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009084 MONDO:0019287 True conductive deafness-ptosis-skeletal anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009091 MONDO:0013099 True non-acquired combined pituitary hormone deficiency with spine abnormalities combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009091 MONDO:0018762 True non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009092 MONDO:0006025 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009092 MONDO:0019046 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009093 MONDO:0019046 True dermatoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009094 MONDO:0021154 True dermochondrocorneal dystrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009095 MONDO:0019287 True dermatoosteolysis, Kirghizian type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009097 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal recessive persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009099 MONDO:0015962 True nephrogenic diabetes insipidus-intracranial calcification syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009101 MONDO:0003847 True Wolfram syndrome 1 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009101 MONDO:0018105 True Wolfram syndrome 1 Wolfram syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009103 MONDO:0005711 True diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009104 MONDO:0006025 True Donnai-Barrow syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009105 MONDO:0002254 True trichohepatoenteric syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009105 MONDO:0003778 True trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009106 MONDO:0018075 True diastematomyelia neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009107 MONDO:0005516 True diastrophic dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009109 MONDO:0019216 True lysinuric protein intolerance inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009110 MONDO:0019216 True dicarboxylic aminoaciduria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009111 MONDO:0019238 True dihydropyrimidinuria inborn disorder of pyrimidine metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009112 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009113 MONDO:0019052 True hemolytic anemia due to diphosphoglycerate mutase deficiency inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009114 MONDO:0017706 True congenital sucrase-isomaltase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009115 MONDO:0017706 True congenital lactase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009121 MONDO:0015161 True von Voss-Cherstvoy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009123 MONDO:0017759 True orthostatic hypotension 1 disorder of catecholamine synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009123 MONDO:0021272 True orthostatic hypotension 1 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009124 MONDO:0015159 True Dubowitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009124 MONDO:0019287 True Dubowitz syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009126 MONDO:0001045 True duodenal atresia intestinal atresia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009131 MONDO:0005071 True Riley-Day syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009133 MONDO:0002254 True cerebellar ataxia, intellectual disability, and dysequilibrium syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009133 MONDO:0020043 True cerebellar ataxia, intellectual disability, and dysequilibrium autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009134 MONDO:0017749 True congenital dyserythropoietic anemia type 2 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009134 MONDO:0019403 True congenital dyserythropoietic anemia type 2 congenital dyserythropoietic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009135 MONDO:0020337 True anemia, congenital dyserythropoietic, type 1a congenital dyserythropoietic anemia type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009136 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009138 MONDO:0017198 True dysosteosclerosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009141 MONDO:0015990 True torsion dystonia 2 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009143 MONDO:0016817 True Meier-Gorlin syndrome 1 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009144 MONDO:0020289 True Ebstein anomaly congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009145 MONDO:0017666 True SchC6pf-Schulz-Passarge syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009146 MONDO:0019287 True ectodermal dysplasia-sensorineural deafness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009149 MONDO:0019287 True ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009150 MONDO:0019287 True hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009151 MONDO:0000358 True cleft lip/palate-ectodermal dysplasia syndrome orofacial cleft UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009151 MONDO:0006025 True cleft lip/palate-ectodermal dysplasia syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009151 MONDO:0019287 True cleft lip/palate-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009152 MONDO:0003847 True ectopia lentis 2, isolated, autosomal recessive hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009152 MONDO:0015998 True ectopia lentis 2, isolated, autosomal recessive isolated ectopia lentis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009153 MONDO:0003847 True ectopia lentis et pupillae hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009154 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 5 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009155 MONDO:0018234 True EEM syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009155 MONDO:0019287 True EEM syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009156 MONDO:0019054 True ectrodactyly-polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009157 MONDO:0016576 True split hand-foot malformation 6 split hand-foot malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009159 MONDO:0020066 True Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009161 MONDO:0020066 True Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009162 MONDO:0006025 True Ellis-van Creveld syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009162 MONDO:0018770 True Ellis-van Creveld syndrome Jeune syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009162 MONDO:0019287 True Ellis-van Creveld syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009165 MONDO:0018866 True Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009166 MONDO:0020135 True pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009167 MONDO:0015159 True Bonnemann-Meinecke-Reich syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009168 MONDO:0003847 True Fowler syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009169 MONDO:0000470 True endocardial fibroelastosis endocardium disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009173 MONDO:0003847 True congenital enteropathy due to enteropeptidase deficiency hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009173 MONDO:0004335 True congenital enteropathy due to enteropeptidase deficiency digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009174 MONDO:0005020 True protein-losing enteropathy intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009175 MONDO:0020122 True eosinophilic fasciitis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009176 MONDO:0005046 True epidermodysplasia verruciformis immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009177 MONDO:0017612 True late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009179 MONDO:0006543 True recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009180 MONDO:0017612 True junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0002254 True epidermolysis bullosa simplex 5B, with muscular dystrophy syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0016198 True epidermolysis bullosa simplex 5B, with muscular dystrophy qualitative or quantitative defects of plectin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0017610 True epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009182 MONDO:0017612 True junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009183 MONDO:0017612 True junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009185 MONDO:0019287 True amelocerebrohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009188 MONDO:0015159 True epilepsy-telangiectasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009189 MONDO:0016648 True multiple epiphyseal dysplasia type 4 multiple epiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009192 MONDO:0002254 True Wolcott-Rallison syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009192 MONDO:0006025 True Wolcott-Rallison syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009194 MONDO:0003847 True immunodeficiency 32B hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009197 MONDO:0020113 True transient erythroblastopenia of childhood primary acquired red cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009202 MONDO:0043009 True Thakker-Donnai syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009203 MONDO:0018363 True focal facial dermal dysplasia type III focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009204 MONDO:0018234 True lethal faciocardiomelic dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009204 MONDO:0019054 True lethal faciocardiomelic dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009205 MONDO:0015159 True faciocardiorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009209 MONDO:0015161 True autosomal recessive faciodigitogenital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009210 MONDO:0021181 True congenital factor V deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009211 MONDO:0015722 True congenital factor VII deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009212 MONDO:0015722 True congenital factor X deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009216 MONDO:0002412 True glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009217 MONDO:0002254 True Fanconi-like syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009221 MONDO:0018234 True femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009221 MONDO:0019054 True femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0018234 True Gollop-Wolfgang complex dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0019054 True Gollop-Wolfgang complex congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009223 MONDO:0018555 True hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009223 MONDO:0019155 True hypogonadotropic hypogonadism 23 with or without anosmia Leydig cell hypoplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009224 MONDO:0016555 True fetal iodine syndrome transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009224 MONDO:0016677 True fetal iodine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009226 MONDO:0016068 True fibrochondrogenesis 1 fibrochondrogenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009227 MONDO:0016824 True myofibromatosis, infantile, 1 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009228 MONDO:0015161 True gingival fibromatosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009229 MONDO:0019707 True hyaline fibromatosis syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0006025 True acromesomelic dysplasia 2B autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0018234 True acromesomelic dysplasia 2B dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0019054 True acromesomelic dysplasia 2B congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009231 MONDO:0019696 True acromesomelic dysplasia 2B acromesomelic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009232 MONDO:0018234 True Fuhrmann syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009232 MONDO:0019054 True Fuhrmann syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009233 MONDO:0015161 True Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009234 MONDO:0021181 True congenital high-molecular-weight kininogen deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009235 MONDO:0019118 True familial benign flecked retina inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009237 MONDO:0005108 True focal epithelial hyperplasia viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009238 MONDO:0016624 True hereditary folate malabsorption inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009238 MONDO:0017313 True hereditary folate malabsorption disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009239 MONDO:0018555 True hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009240 MONDO:0016624 True formiminoglutamic aciduria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009240 MONDO:0017313 True formiminoglutamic aciduria disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009241 MONDO:0015159 True fountain syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009242 MONDO:0000942 True brittle cornea syndrome corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009242 MONDO:0006025 True brittle cornea syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009242 MONDO:0020066 True brittle cornea syndrome Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009247 MONDO:0015161 True frontofacionasal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009247 MONDO:0016643 True frontofacionasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009249 MONDO:0017689 True hereditary fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009251 MONDO:0019225 True fructose-1,6-bisphosphatase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009252 MONDO:0017689 True essential fructosuria disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009253 MONDO:0015159 True Fryns syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009254 MONDO:0019251 True fucosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009254 MONDO:0800088 True fucosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009255 MONDO:0018116 True galactokinase deficiency galactosemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009257 MONDO:0018116 True galactose epimerase deficiency galactosemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009258 MONDO:0018116 True classic galactosemia galactosemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009258 MONDO:0019852 True classic galactosemia inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009260 MONDO:0018149 True GM1 gangliosidosis type 1 GM1 gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009260 MONDO:0800088 True GM1 gangliosidosis type 1 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009261 MONDO:0018149 True GM1 gangliosidosis type 2 GM1 gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009262 MONDO:0018149 True GM1 gangliosidosis type 3 GM1 gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009263 MONDO:0015159 True GAPO syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009263 MONDO:0019287 True GAPO syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0016340 True Gaucher disease type I familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018150 True Gaucher disease type I Gaucher disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018374 True Gaucher disease type I secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0018383 True Gaucher disease type I osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009265 MONDO:0020143 True Gaucher disease type I cerebral lipidosis with dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009266 MONDO:0018150 True Gaucher disease type II Gaucher disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009267 MONDO:0018150 True Gaucher disease type III Gaucher disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009268 MONDO:0018150 True Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009269 MONDO:0000127 True geleophysic dysplasia 1 geleophysic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009270 MONDO:0015161 True genito-palato-cardiac syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009272 MONDO:0019175 True German syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009274 MONDO:0018230 True ghosal hematodiaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009276 MONDO:0000009 True Bernard-Soulier syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009279 MONDO:0002254 True triple-A syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009279 MONDO:0006025 True triple-A syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009279 MONDO:0015129 True triple-A syndrome chronic primary adrenal insufficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009281 MONDO:0000688 True glutaryl-CoA dehydrogenase deficiency inborn organic aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009282 MONDO:0017714 True multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009284 MONDO:0017909 True glutathione synthetase deficiency without 5-oxoprolinuria inherited glutathione synthetase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009287 MONDO:0002413 True glycogen storage disease due to glucose-6-phosphatase deficiency type IA glycogen storage disease I SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009288 MONDO:0015134 True glycogen storage disease Ib constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0002412 True glycogen storage disease II disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0016340 True glycogen storage disease II familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009290 MONDO:0017738 True glycogen storage disease II lysosomal glycogen storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009291 MONDO:0002412 True glycogen storage disease III disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009292 MONDO:0002412 True glycogen storage disease due to glycogen branching enzyme deficiency disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009293 MONDO:0002412 True glycogen storage disease V disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009294 MONDO:0002412 True glycogen storage disease VI disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009295 MONDO:0002412 True glycogen storage disease VII disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009297 MONDO:0006510 True familial renal glucosuria renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009297 MONDO:0019226 True familial renal glucosuria glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009299 MONDO:0001967 True 46 XX gonadal dysgenesis gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009299 MONDO:0019852 True 46 XX gonadal dysgenesis inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009300 MONDO:0017312 True Perrault syndrome 1 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009301 MONDO:0010765 True 46,XY sex reversal 7 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009302 MONDO:0020040 True XY type gonadal dysgenesis-associated anomalies syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009303 MONDO:0007179 True anti-glomerular basement membrane disease autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009305 MONDO:0003847 True granulocytopenia with immunoglobulin abnormality hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009308 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-negative chronic granulomatous disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009309 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 chronic granulomatous disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009310 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009312 MONDO:0020087 True lipodystrophy due to peptidic growth factors deficiency hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0000429 True congenital factor XII deficiency autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0021181 True congenital factor XII deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009318 MONDO:0019303 True Hallermann-Streiff syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0016987 True pantothenate kinase-associated neurodegeneration neuroacanthocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0018117 True pantothenate kinase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009319 MONDO:0018307 True pantothenate kinase-associated neurodegeneration neurodegeneration with brain iron accumulation SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009320 MONDO:0015159 True Hall-Riggs syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009321 MONDO:0019054 True hallux varus-preaxial polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009324 MONDO:0019216 True Hartnup disease inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009326 MONDO:0000465 True congenital heart block atrioventricular block SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009329 MONDO:0009937 True pulmonary venoocclusive disease 2 pulmonary venoocclusive disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009330 MONDO:0005094 True hemangiopericytoma, malignant hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009331 MONDO:0019716 True isolated hemihyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009333 MONDO:0019175 True mullerian derivatives-lymphangiectasia-polydactyly syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009337 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009338 MONDO:0003778 True hepatic veno-occlusive disease-immunodeficiency syndrome inborn error of immunity UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009339 MONDO:0018841 True congenital bile acid synthesis defect 2 congenital bile acid synthesis defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009341 MONDO:0015159 True Mowat-Wilson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009341 MONDO:0015653 True Mowat-Wilson syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009342 MONDO:0015161 True Hirschsprung disease-hearing loss-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009345 MONDO:0019228 True histidinemia inborn disorder of histidine metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009348 MONDO:0004952 True classic Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009349 MONDO:0016296 True holoprosencephaly 1 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009350 MONDO:0002254 True Holzgreve-Wagner-Rehder syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009350 MONDO:0015161 True Holzgreve-Wagner-Rehder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009351 MONDO:0000698 True homocarnosinosis gamma-amino butyric acid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009352 MONDO:0015327 True classic homocystinuria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009353 MONDO:0017313 True homocystinuria due to methylene tetrahydrofolate reductase deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009353 MONDO:0020127 True homocystinuria due to methylene tetrahydrofolate reductase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009354 MONDO:0018964 True methylcobalamin deficiency type cblE homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009359 MONDO:0002254 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009359 MONDO:0006025 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009359 MONDO:0043009 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009360 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 1 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009363 MONDO:0015161 True hydrocephaly-tall stature-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009364 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009366 MONDO:0002045 True normal pressure hydrocephalus communicating hydrocephalus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009367 MONDO:0003847 True McKusick-Kaufman syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009367 MONDO:0015161 True McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009368 MONDO:0000463 True urofacial syndrome type 1 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009370 MONDO:0016001 True L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009371 MONDO:0019215 True 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009372 MONDO:0017350 True encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009373 MONDO:0017351 True seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009378 MONDO:0019238 True hyper-beta-alaninemia inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009379 MONDO:0002408 True Rotor syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009380 MONDO:0002408 True Dubin-Johnson syndrome hereditary hyperbilirubinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009383 MONDO:0002408 True transient familial neonatal hyperbilirubinemia hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0001336 True familial lipoprotein lipase deficiency familial hyperlipidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0018637 True familial lipoprotein lipase deficiency familial chylomicronemia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009388 MONDO:0004736 True hyperlysinemia inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009388 MONDO:0017351 True hyperlysinemia inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009394 MONDO:0005382 True juvenile Paget disease bone Paget disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009395 MONDO:0002185 True hyperostosis corticalis generalisata hyperostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009395 MONDO:0018230 True hyperostosis corticalis generalisata skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009398 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 1 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009400 MONDO:0023419 True hyperprolinemia type 1 hyperprolinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009401 MONDO:0023419 True hyperprolinemia type 2 hyperprolinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009402 MONDO:0015161 True acrofrontofacionasal dysostosis 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009404 MONDO:0006025 True hypertelorism, microtia, facial clefting syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009404 MONDO:0015159 True hypertelorism, microtia, facial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009405 MONDO:0019280 True cervical hypertrichosis-peripheral neuropathy syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009405 MONDO:0020022 True cervical hypertrichosis-peripheral neuropathy syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009406 MONDO:0005516 True hypertrichotic osteochondrodysplasia Cantu type osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009411 MONDO:0016165 True autoimmune polyendocrine syndrome type 1 hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009411 MONDO:0017278 True autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009413 MONDO:0015517 True immunodeficiency, common variable, 2 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009414 MONDO:0002412 True glycogen storage disorder due to hepatic glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009415 MONDO:0003847 True hypoglycemia, leucine-induced hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009416 MONDO:0003847 True hypoinsulinemic hypoglycemia and body hemihypertrophy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009416 MONDO:0019716 True hypoinsulinemic hypoglycemia and body hemihypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0015770 True Woodhouse-Sakati syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0018307 True Woodhouse-Sakati syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009419 MONDO:0044807 True Woodhouse-Sakati syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009424 MONDO:0015231 True Bartter disease type 2 Bartter syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009426 MONDO:0002254 True hypoparathyroidism-retardation-dysmorphism syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009426 MONDO:0006025 True hypoparathyroidism-retardation-dysmorphism syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009426 MONDO:0015159 True hypoparathyroidism-retardation-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009431 MONDO:0000044 True hereditary hypophosphatemic rickets with hypercalciuria hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009433 MONDO:0004933 True hypoplastic left heart syndrome 1 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009434 MONDO:0021094 True hypoproteinemia, hypercatabolic immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009435 MONDO:0015159 True hypospadias-intellectual disability, Goldblatt type syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009437 MONDO:0005151 True Bamforth-Lazarus syndrome endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009440 MONDO:0018781 True ichthyosiform erythroderma, corneal involvement, and hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009441 MONDO:0017265 True autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009444 MONDO:0019287 True ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009445 MONDO:0100309 True ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009448 MONDO:0019216 True iminoglycinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009451 MONDO:0001222 True Nezelof syndrome congenital T-cell immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009452 MONDO:0002254 True Vici syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009452 MONDO:0006025 True Vici syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009452 MONDO:0015161 True Vici syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009454 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009458 MONDO:0015708 True Schimke immuno-osseous dysplasia immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009461 MONDO:0004983 True spermatogenic failure 5 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009461 MONDO:0018394 True spermatogenic failure 5 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009465 MONDO:0006025 True multiple intestinal atresia autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009468 MONDO:0006810 True pseudotumor cerebri intracranial hypertension SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009469 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 1 benign recurrent intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009470 MONDO:0017579 True Baraitser-Winter syndrome 1 Baraitser-Winter cerebrofrontofacial syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009475 MONDO:0019215 True isovaleric acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0015159 True Stromme syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0016575 True Stromme syndrome primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009477 MONDO:0043009 True Stromme syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009478 MONDO:0018037 True combined immunodeficiency due to DOCK8 deficiency hyper-IgE syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009479 MONDO:0006025 True Johanson-Blizzard syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009479 MONDO:0015159 True Johanson-Blizzard syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009480 MONDO:0015369 True Joubert syndrome with oculorenal defect Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009480 MONDO:0020022 True Joubert syndrome with oculorenal defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009483 MONDO:0015159 True Kapur-Toriello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009484 MONDO:0016575 True primary ciliary dyskinesia 1 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009485 MONDO:0003847 True oculocerebrofacial syndrome, Kaufman type hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009485 MONDO:0015159 True oculocerebrofacial syndrome, Kaufman type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009486 MONDO:0006025 True autosomal recessive Kenny-Caffey syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009486 MONDO:0016516 True autosomal recessive Kenny-Caffey syndrome Kenny-Caffey syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009489 MONDO:0017666 True hereditary palmoplantar keratoderma, Gamborg-Nielsen type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0006025 True Papillon-Lefevre disease autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0015978 True Papillon-Lefevre disease functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0017666 True Papillon-Lefevre disease diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0017739 True Papillon-Lefevre disease disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009491 MONDO:0017666 True Haim-Munk syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009491 MONDO:0017739 True Haim-Munk syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009492 MONDO:0019229 True succinyl-CoA:3-ketoacid CoA transferase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009493 MONDO:0100309 True Richards-Rundle syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0015159 True Keutel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0019701 True Keutel syndrome chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009498 MONDO:0018230 True lethal Kniest-like dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009499 MONDO:0019046 True Krabbe disease leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009499 MONDO:0019255 True Krabbe disease sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009501 MONDO:0020123 True metabolic myopathy due to lactate transporter defect metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009504 MONDO:0016796 True mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009506 MONDO:0015978 True specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009507 MONDO:0015159 True Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0000414 True Landau-Kleffner syndrome childhood electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0020072 True Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0015286 True Larsen-like syndrome, B3GAT3 type congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0015327 True Larsen-like syndrome, B3GAT3 type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0018230 True Larsen-like syndrome, B3GAT3 type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009512 MONDO:0019755 True lethal Larsen-like syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009513 MONDO:0017612 True laryngo-onycho-cutaneous syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0002254 True Laurence-Moon syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0006025 True Laurence-Moon syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0015159 True Laurence-Moon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009514 MONDO:0015770 True Laurence-Moon syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009515 MONDO:0001822 True Norum disease hypolipoproteinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009515 MONDO:0018999 True Norum disease LCAT deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009516 MONDO:0018234 True absence deformity of leg-cataract syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009516 MONDO:0019054 True absence deformity of leg-cataract syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009517 MONDO:0002254 True Donohue syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009517 MONDO:0006025 True Donohue syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009517 MONDO:0015161 True Donohue syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009520 MONDO:0017713 True 3-hydroxy-3-methylglutaric aciduria disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009520 MONDO:0019215 True 3-hydroxy-3-methylglutaric aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009522 MONDO:0019287 True Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009523 MONDO:0015134 True Lichtenstein syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0015159 True intellectual disability-spasticity-ectrodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0018234 True intellectual disability-spasticity-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009524 MONDO:0019054 True intellectual disability-spasticity-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009525 MONDO:0016576 True split hand-foot malformation 3 split hand-foot malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009525 MONDO:0016961 True split hand-foot malformation 3 partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009527 MONDO:0006025 True lipase deficiency, combined autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009527 MONDO:0018637 True lipase deficiency, combined familial chylomicronemia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009528 MONDO:0017774 True chylomicron retention disease hypobetalipoproteinemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009529 MONDO:0009563 True pyruvate dehydrogenase E3 deficiency maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009529 MONDO:0018424 True pyruvate dehydrogenase E3 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009529 MONDO:0019169 True pyruvate dehydrogenase E3 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009530 MONDO:0002525 True lipoid proteinosis inherited lipid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009530 MONDO:0021154 True lipoid proteinosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0002254 True Miller-Dieker lissencephaly syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0015146 True Miller-Dieker lissencephaly syndrome classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009532 MONDO:0022754 True Miller-Dieker lissencephaly syndrome chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0015161 True Dahlberg-Borer-Newcomer syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0019287 True Dahlberg-Borer-Newcomer syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009537 MONDO:0002429 True lymphoid interstitial pneumonia idiopathic interstitial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009543 MONDO:0015159 True prominent glabella-microcephaly-hypogenitalism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009548 MONDO:0017624 True renal hypomagnesemia 5 with ocular involvement familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009550 MONDO:0017624 True renal hypomagnesemia 3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009552 MONDO:0017666 True mal de Meleda diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009554 MONDO:0017398 True 3MC syndrome 3 3MC syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009557 MONDO:0016584 True mandibuloacral dysplasia with type A lipodystrophy mandibuloacral dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009557 MONDO:0021106 True mandibuloacral dysplasia with type A lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009558 MONDO:0002457 True Treacher Collins syndrome 3 Treacher-Collins syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009561 MONDO:0019251 True alpha-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009561 MONDO:0800088 True alpha-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0019251 True beta-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0020127 True beta-mannosidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009562 MONDO:0800088 True beta-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009563 MONDO:0000688 True maple syrup urine disease inborn organic aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009563 MONDO:0019242 True maple syrup urine disease inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0015159 True Marden-Walker syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0015168 True Marden-Walker syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009565 MONDO:0015159 True microcephaly-glomerulonephritis-marfanoid habitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009566 MONDO:0015159 True marfanoid habitus-autosomal recessive intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009567 MONDO:0002254 True Marinesco-Sjogren syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009567 MONDO:0020046 True Marinesco-Sjogren syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009568 MONDO:0019064 True mast syndrome hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009570 MONDO:0015159 True McDonough syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009571 MONDO:0018921 True Meckel syndrome, type 1 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009575 MONDO:0000152 True thiamine-responsive megaloblastic anemia syndrome thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009575 MONDO:0006025 True thiamine-responsive megaloblastic anemia syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009575 MONDO:0020112 True thiamine-responsive megaloblastic anemia syndrome vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009576 MONDO:0000942 True megalocornea corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009576 MONDO:0003847 True megalocornea hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009579 MONDO:0019690 True Frank-Ter Haar syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009580 MONDO:0019502 True intellectual disability, autosomal recessive 1 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009581 MONDO:0015159 True intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009584 MONDO:0015159 True intellectual disability, Buenos-Aires type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009588 MONDO:0018230 True Langer mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009589 MONDO:0015161 True mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009589 MONDO:0018230 True mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009591 MONDO:0018868 True metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009592 MONDO:0018230 True metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009594 MONDO:0018230 True metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0006025 True cartilage-hair hypoplasia autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0015708 True cartilage-hair hypoplasia immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009595 MONDO:0019287 True cartilage-hair hypoplasia ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009597 MONDO:0018230 True metaphyseal chondrodysplasia, Spahr type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009599 MONDO:0018230 True metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009603 MONDO:0019215 True 3-hydroxyisobutyryl-CoA hydrolase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009607 MONDO:0019222 True methionine adenosyltransferase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009609 MONDO:0018964 True methylcobalamin deficiency type cblG homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009610 MONDO:0017359 True 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009611 MONDO:0017359 True 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009612 MONDO:0002012 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009612 MONDO:0019215 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009613 MONDO:0017214 True methylmalonic aciduria, cblA type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009614 MONDO:0017214 True methylmalonic aciduria, cblB type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009617 MONDO:0016660 True microcephaly 1, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009618 MONDO:0015159 True microcephaly-cardiomyopathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009620 MONDO:0003778 True Say-Barber-Miller syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009620 MONDO:0015159 True Say-Barber-Miller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009621 MONDO:0015159 True microcephaly-cervical spine fusion anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009622 MONDO:0015159 True Jawad syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0006025 True Nijmegen breakage syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0015161 True Nijmegen breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009624 MONDO:0000181 True microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009624 MONDO:0002254 True microcephaly and chorioretinopathy 1 syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009624 MONDO:0019118 True microcephaly and chorioretinopathy 1 inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009625 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia syndrome 1 diencephalic-mesencephalic junction dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009626 MONDO:0006025 True pseudo-TORCH syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009627 MONDO:0002254 True Galloway-Mowat syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009629 MONDO:0015426 True Desbuquois dysplasia 1 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009630 MONDO:0000170 True microphthalmia, isolated, with coloboma 4 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009636 MONDO:0019236 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009636 MONDO:0100512 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009646 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 1 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009648 MONDO:0015914 True peripheral motor neuropathy-dysautonomia syndrome primary orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009649 MONDO:0016820 True moyamoya disease 1 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009650 MONDO:0800088 True mucolipidosis type II lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009652 MONDO:0031422 True GNPTG-mucolipidosis familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009652 MONDO:0800088 True GNPTG-mucolipidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009653 MONDO:0031422 True mucolipidosis type IV familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009655 MONDO:0018937 True mucopolysaccharidosis type 3A mucopolysaccharidosis type 3 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009655 MONDO:0800088 True mucopolysaccharidosis type 3A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009656 MONDO:0018937 True mucopolysaccharidosis type 3B mucopolysaccharidosis type 3 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009656 MONDO:0800088 True mucopolysaccharidosis type 3B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009657 MONDO:0018937 True mucopolysaccharidosis type 3C mucopolysaccharidosis type 3 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009657 MONDO:0800088 True mucopolysaccharidosis type 3C lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009658 MONDO:0018937 True mucopolysaccharidosis type 3D mucopolysaccharidosis type 3 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009658 MONDO:0800088 True mucopolysaccharidosis type 3D lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009659 MONDO:0018938 True mucopolysaccharidosis type 4A mucopolysaccharidosis type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009659 MONDO:0800088 True mucopolysaccharidosis type 4A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009660 MONDO:0018938 True mucopolysaccharidosis type 4B mucopolysaccharidosis type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009660 MONDO:0800088 True mucopolysaccharidosis type 4B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009661 MONDO:0019249 True mucopolysaccharidosis type 6 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009661 MONDO:0800088 True mucopolysaccharidosis type 6 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009662 MONDO:0019249 True mucopolysaccharidosis type 7 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009662 MONDO:0800088 True mucopolysaccharidosis type 7 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009664 MONDO:0002254 True mulibrey nanism syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009664 MONDO:0006025 True mulibrey nanism autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009665 MONDO:0015454 True biotinidase deficiency multiple carboxylase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009665 MONDO:0020127 True biotinidase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0015454 True holocarboxylase synthetase deficiency multiple carboxylase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009667 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009668 MONDO:0017415 True lethal multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009669 MONDO:0019079 True spinal muscular atrophy, type 1 proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0002254 True lethal congenital contracture syndrome 1 syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0015161 True lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0015929 True lethal congenital contracture syndrome 1 thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009670 MONDO:0017436 True lethal congenital contracture syndrome 1 lethal congenital contracture syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009671 MONDO:0019952 True intellectual disability-myopathy-short stature-endocrine defect syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009672 MONDO:0019079 True spinal muscular atrophy, type III proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009673 MONDO:0019079 True spinal muscular atrophy, type II proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009675 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009676 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009676 MONDO:0016145 True autosomal recessive limb-girdle muscular dystrophy type 2B qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0016143 True autosomal recessive limb-girdle muscular dystrophy type 2C qualitative or quantitative defects of gamma-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009677 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2C familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009678 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009680 MONDO:0019950 True congenital muscular dystrophy-infantile cataract-hypogonadism syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009681 MONDO:0000355 True Ullrich congenital muscular dystrophy 1 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009683 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009683 MONDO:0016153 True autosomal recessive limb-girdle muscular dystrophy type 2H qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009685 MONDO:0018949 True Miyoshi myopathy distal myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009689 MONDO:0018940 True congenital myasthenic syndrome 6 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009691 MONDO:0000607 True mycosis fungoides primary cutaneous T-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009691 MONDO:0015821 True mycosis fungoides mycosis fungoides and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009692 MONDO:0015610 True primary myelofibrosis acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009693 MONDO:0005170 True plasma cell myeloma myeloid neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009694 MONDO:0015978 True myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0000415 True juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0017704 True juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009704 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, myopathic form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009705 MONDO:0017716 True carnitine palmitoyl transferase 1A deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009706 MONDO:0020123 True hereditary myopathy with lactic acidosis due to ISCU deficiency metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009708 MONDO:0019952 True myopathy, myosin storage, autosomal recessive congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009709 MONDO:0015705 True myopathy, centronuclear, 2 autosomal recessive centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009710 MONDO:0019119 True Thomsen and Becker disease muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009712 MONDO:0018948 True congenital multicore myopathy with external ophthalmoplegia multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009713 MONDO:0001384 True myopia 18, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009717 MONDO:0016151 True Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009720 MONDO:0015161 True Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009722 MONDO:0019952 True Bailey-Bloch congenital myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009723 MONDO:0016387 True Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009723 MONDO:0020127 True Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009726 MONDO:0006025 True proteosome-associated autoinflammatory syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009726 MONDO:0019751 True proteosome-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009727 MONDO:0000389 True atelosteogenesis type II atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009728 MONDO:0005308 True nephronophthisis 1 ciliopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009728 MONDO:0019005 True nephronophthisis 1 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009731 MONDO:0015161 True nephrosis-deafness-urinary tract-digital malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009732 MONDO:0002350 True congenital nephrotic syndrome, Finnish type familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009733 MONDO:0002350 True nephrotic syndrome, type 4 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009734 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0006025 True Netherton syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0015947 True Netherton syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0018037 True Netherton syndrome hyper-IgE syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009736 MONDO:0000179 True Neu-Laxova syndrome 1 Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009737 MONDO:0019251 True galactosialidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009737 MONDO:0800088 True galactosialidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0017734 True sialidosis type 2 sialidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0031422 True sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009738 MONDO:0800088 True sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009740 MONDO:0015159 True neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009747 MONDO:0100512 True mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009748 MONDO:0015150 True hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009748 MONDO:0020127 True hereditary sensory and autonomic neuropathy with spastic paraplegia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009749 MONDO:0000128 True giant axonal neuropathy 1 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009751 MONDO:0015364 True neuropathy, hereditary sensory, atypical hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009755 MONDO:0005073 True neutrophil actin dysfunction melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009758 MONDO:0016293 True congenital stationary night blindness 1B congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009759 MONDO:0000141 True mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009760 MONDO:0015204 True Norman-Roberts syndrome microlissencephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009761 MONDO:0002013 True cystic hygroma lymphangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009762 MONDO:0005712 True nystagmus, congenital, autosomal recessive congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009764 MONDO:0005328 True ocular motor apraxia, Cogan type eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009767 MONDO:0017305 True oculocerebral hypopigmentation syndrome, Cross type syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009769 MONDO:0015159 True oculo-palato-cerebral syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009771 MONDO:0019287 True oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009773 MONDO:0017666 True odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009774 MONDO:0017919 True cloacal exstrophy exstrophy-epispadias complex SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009777 MONDO:0015159 True Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009779 MONDO:0006025 True autosomal recessive omodysplasia autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009779 MONDO:0017136 True autosomal recessive omodysplasia omodysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009780 MONDO:0015159 True lethal omphalocele-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009783 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009786 MONDO:0043878 True optic atrophy 6 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009792 MONDO:0015161 True ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009792 MONDO:0015947 True ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009794 MONDO:0015929 True orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009794 MONDO:0019691 True orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009795 MONDO:0015375 True orofaciodigital syndrome IX orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0001898 True ornithine aminotransferase deficiency optic choroid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0017356 True ornithine aminotransferase deficiency inborn disorder of ornithine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0020127 True ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009797 MONDO:0019238 True orotic aciduria inborn disorder of pyrimidine metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009797 MONDO:0020112 True orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009807 MONDO:0005089 True osteosarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009808 MONDO:0000631 True osteoid osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009808 MONDO:0045052 True osteoid osteoma benign osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009810 MONDO:0019707 True autosomal recessive distal osteolysis syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009813 MONDO:0005246 True chronic recurrent multifocal osteomyelitis osteomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009813 MONDO:0019751 True chronic recurrent multifocal osteomyelitis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009815 MONDO:0019026 True autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009816 MONDO:0019026 True autosomal recessive osteopetrosis 2 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009817 MONDO:0019026 True autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009818 MONDO:0019026 True autosomal recessive osteopetrosis 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009820 MONDO:0002254 True osteoporosis-pseudoglioma syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009820 MONDO:0006025 True osteoporosis-pseudoglioma syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009821 MONDO:0019702 True lethal osteosclerotic bone dysplasia neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009822 MONDO:0015161 True otoonychoperoneal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009822 MONDO:0018234 True otoonychoperoneal syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009823 MONDO:0002474 True primary hyperoxaluria type 1 primary hyperoxaluria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009824 MONDO:0002474 True primary hyperoxaluria type 2 primary hyperoxaluria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009830 MONDO:0005180 True parkinsonian-pyramidal syndrome Parkinson disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009831 MONDO:0002516 True malignant pancreatic neoplasm digestive system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009831 MONDO:0021040 True malignant pancreatic neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009833 MONDO:0002254 True Shwachman-Diamond syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009837 MONDO:0002363 True choroid plexus papilloma papilloma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009837 MONDO:0044764 True choroid plexus papilloma benign choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009839 MONDO:0020488 True progressive supranuclear palsy-parkinsonism syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009839 MONDO:0024237 True progressive supranuclear palsy-parkinsonism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009841 MONDO:0024237 True PEHO syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009843 MONDO:0017226 True hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0018234 True pelviscapular dysplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0019054 True pelviscapular dysplasia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009848 MONDO:0019296 True dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009849 MONDO:0017708 True hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0000424 True hereditary intrinsic factor deficiency inborn vitamin B12 deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0016624 True hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0019220 True hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009853 MONDO:0016624 True Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009853 MONDO:0019220 True Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009855 MONDO:0019233 True d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0002254 True Peters plus syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0015159 True Peters plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0015327 True Peters plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0017747 True Peters plus syndrome disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009857 MONDO:0005518 True persistent Mullerian duct syndrome pseudohermaphroditism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009858 MONDO:0015159 True Pfeiffer-Palm-Teller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009859 MONDO:0015161 True PHAVER syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009861 MONDO:0017306 True phenylketonuria disorder of phenylalanine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009862 MONDO:0016543 True dihydropteridine reductase deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009863 MONDO:0016543 True BH4-deficient hyperphenylalaninemia A hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009865 MONDO:0002412 True glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009867 MONDO:0002412 True lethal congenital glycogen storage disease of heart disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009868 MONDO:0002412 True glycogen storage disease IXb disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009870 MONDO:0019278 True pili torti hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009872 MONDO:0006025 True Bjornstad syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009873 MONDO:0019287 True pilodental dysplasia-refractive errors syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0019280 True Rabson-Mendenhall syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009875 MONDO:0018852 True achromatopsia 3 achromatopsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009876 MONDO:0000050 True isolated growth hormone deficiency type IA isolated congenital growth hormone deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009877 MONDO:0006025 True Laron syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009877 MONDO:0015892 True Laron syndrome growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009879 MONDO:0000050 True short stature due to growth hormone qualitative anomaly isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009880 MONDO:0013099 True short stature-pituitary and cerebellar defects-small sella turcica syndrome combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009880 MONDO:0018762 True short stature-pituitary and cerebellar defects-small sella turcica syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009883 MONDO:0002243 True alpha-2-plasmin inhibitor deficiency hemorrhagic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009883 MONDO:0021181 True alpha-2-plasmin inhibitor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009885 MONDO:0000009 True Scott syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009885 MONDO:0021181 True Scott syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009887 MONDO:0002429 True desquamative interstitial pneumonia idiopathic interstitial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009889 MONDO:0006025 True autosomal recessive polycystic kidney disease autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009889 MONDO:0020642 True autosomal recessive polycystic kidney disease polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009891 MONDO:0005571 True acquired polycythemia vera polycythemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009891 MONDO:0020703 True acquired polycythemia vera erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009892 MONDO:0001115 True Chuvash polycythemia familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009892 MONDO:0016540 True Chuvash polycythemia congenital secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009894 MONDO:0018770 True short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009897 MONDO:0009292 True adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009897 MONDO:0020127 True adult polyglucosan body disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009900 MONDO:0015161 True polysyndactyly-cardiac malformation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0017435 True Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0019287 True Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009901 MONDO:0043009 True Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009903 MONDO:0002254 True postaxial acrofacial dysostosis syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009903 MONDO:0015161 True postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009903 MONDO:0018237 True postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009904 MONDO:0006510 True Gitelman syndrome renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009904 MONDO:0015962 True Gitelman syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009905 MONDO:0015159 True urban-Rogers-Meyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009908 MONDO:0016543 True pterin-4 alpha-carbinolamine dehydratase 1 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0002254 True Wiedemann-Rautenstrauch syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0015159 True Wiedemann-Rautenstrauch syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0020087 True Wiedemann-Rautenstrauch syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0020732 True Wiedemann-Rautenstrauch syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009914 MONDO:0018230 True pseudodiastrophic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009914 MONDO:0019755 True pseudodiastrophic dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009915 MONDO:0017576 True 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009916 MONDO:0003847 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009916 MONDO:0020040 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009917 MONDO:0019161 True autosomal recessive pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009919 MONDO:0019233 True peroxisomal acyl-CoA oxidase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009921 MONDO:0015159 True holoprosencephaly-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0020040 True 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009924 MONDO:0017323 True vitamin D-dependent rickets, type 1 hypocalcemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009925 MONDO:0006025 True autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0015161 True autosomal recessive multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0017415 True autosomal recessive multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009927 MONDO:0017398 True 3MC syndrome 2 3MC syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009928 MONDO:0005275 True pulmonary alveolar microlithiasis lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009929 MONDO:0012580 True neonatal acute respiratory distress due to SP-B deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009931 MONDO:0020291 True pulmonary atresia-intact ventricular septum syndrome hypoplastic right heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009934 MONDO:0017015 True alveolar capillary dysplasia with misalignment of pulmonary veins primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009937 MONDO:0005385 True pulmonary venoocclusive disease vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009940 MONDO:0002561 True pycnodysostosis lysosomal storage disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009940 MONDO:0005516 True pycnodysostosis osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009940 MONDO:0017198 True pycnodysostosis osteopetrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009942 MONDO:0018230 True pyknoachondrogenesis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009943 MONDO:0005516 True Pyle disease osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009943 MONDO:0018230 True Pyle disease skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009945 MONDO:0019237 True pyridoxine-dependent epilepsy inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009946 MONDO:0019238 True hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009947 MONDO:0017909 True glutathione synthetase deficiency with 5-oxoprolinuria inherited glutathione synthetase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009949 MONDO:0019225 True pyruvate carboxylase deficiency disease disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009950 MONDO:0006506 True pyruvate kinase deficiency of red cells congenital nonspherocytic hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009952 MONDO:0015159 True radioulnar synostosis-developmental delay-hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009952 MONDO:0019054 True radioulnar synostosis-developmental delay-hypotonia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009953 MONDO:0005501 True leukocyte adhesion deficiency type II congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009953 MONDO:0017570 True leukocyte adhesion deficiency type II leukocyte adhesion deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009953 MONDO:0017749 True leukocyte adhesion deficiency type II disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0006025 True rapadilino syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0015161 True rapadilino syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0018234 True rapadilino syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0019054 True rapadilino syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009960 MONDO:0005265 True inflammatory bowel disease 1 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009962 MONDO:0017842 True Senior-Loken syndrome 1 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009963 MONDO:0015159 True Ulbright-Hodes syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009964 MONDO:0018770 True short-rib thoracic dysplasia 9 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009965 MONDO:0002254 True Perlman syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009965 MONDO:0019716 True Perlman syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009966 MONDO:0018921 True NPHP3-related Meckel-like syndrome Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009966 MONDO:0020022 True NPHP3-related Meckel-like syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009970 MONDO:0017609 True renal tubular dysgenesis of genetic origin renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009973 MONDO:0017855 True reticular dysgenesis T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009973 MONDO:0031520 True reticular dysgenesis familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009974 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis type 1 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009975 MONDO:0000612 True reticulum cell sarcoma lymphatic system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009975 MONDO:0020082 True reticulum cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009978 MONDO:0019118 True retinal degeneration-nanophthalmos-glaucoma syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009979 MONDO:0018973 True reticular dystrophy of the retinal pigment epithelium patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009984 MONDO:0019200 True late-adult onset retinitis pigmentosa retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009987 MONDO:0019200 True autosomal recessive pericentral pigmentary retinopathy retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009990 MONDO:0015780 True Revesz syndrome dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009990 MONDO:0019118 True Revesz syndrome inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009993 MONDO:0005212 True embryonal rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009994 MONDO:0005212 True alveolar rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009996 MONDO:0018230 True rhizomelic syndrome, Urbach type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009998 MONDO:0015161 True Richieri Costa-Pereira syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009999 MONDO:0006025 True autosomal recessive Robinow syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009999 MONDO:0019978 True autosomal recessive Robinow syndrome Robinow syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010001 MONDO:0019287 True ectodermal dysplasia-blindness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010002 MONDO:0015951 True Rothmund-Thomson syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0000426 True EEC syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0002254 True EEC syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0018234 True EEC syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010005 MONDO:0017351 True saccharopinuria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010006 MONDO:0017720 True Sandhoff disease GM2 gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010006 MONDO:0020127 True Sandhoff disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010006 MONDO:0020143 True Sandhoff disease cerebral lipidosis with dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010007 MONDO:0015159 True microbrachycephaly-ptosis-cleft lip syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010008 MONDO:0019239 True sarcosinemia inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010010 MONDO:0019287 True Schinzel-Giedion syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010011 MONDO:0017103 True schizencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010012 MONDO:0017278 True autoimmune polyendocrinopathy type 2 autoimmune polyendocrinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010013 MONDO:0005516 True schneckenbecken dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010013 MONDO:0015286 True schneckenbecken dysplasia congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010014 MONDO:0018230 True craniometadiaphyseal dysplasia, wormian bone type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010015 MONDO:0019503 True anterior segment dysgenesis 7 anterior segment dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010016 MONDO:0017838 True sclerosteosis 1 sclerosteosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010017 MONDO:0015531 True sea-blue histiocyte syndrome non-Langerhans cell histiocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010017 MONDO:0019255 True sea-blue histiocyte syndrome sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010020 MONDO:0006536 True congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010023 MONDO:0021094 True combined immunodeficiency due to ZAP70 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010024 MONDO:0018770 True Beemer-Langer syndrome Jeune syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0002254 True SHORT syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0020087 True SHORT syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0019366 True free sialic acid storage disease, infantile form free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0800088 True free sialic acid storage disease, infantile form lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010028 MONDO:0017736 True sialuria disorder of sialic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010029 MONDO:0018677 True situs inversus visceral heterotaxy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010030 MONDO:0000586 True Sjogren syndrome autoimmune disorder of exocrine system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0006025 True Sjogren-Larsson syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0018117 True Sjogren-Larsson syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010033 MONDO:0019347 True generalized peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010035 MONDO:0015159 True Smith-Lemli-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010038 MONDO:0015892 True growth delay due to insulin-like growth factor I resistance growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010039 MONDO:0015159 True congenital heart defect-round face-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010041 MONDO:0015244 True Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010041 MONDO:0017847 True Charlevoix-Saguenay spastic ataxia autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010043 MONDO:0015087 True hereditary spastic paraplegia 17 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010043 MONDO:0015362 True hereditary spastic paraplegia 17 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010044 MONDO:0015150 True hereditary spastic paraplegia 15 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010046 MONDO:0015150 True hereditary spastic paraplegia 23 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010047 MONDO:0019064 True hereditary spastic paraplegia 5A hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010049 MONDO:0015150 True spastic paraplegia-glaucoma-intellectual disability syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010052 MONDO:0004983 True spermatogenic failure 4 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010053 MONDO:0019350 True hereditary spherocytosis type 3 hereditary spherocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010056 MONDO:0019079 True spinal muscular atrophy, type IV proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010060 MONDO:0020046 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010060 MONDO:0100512 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010062 MONDO:0100309 True spinocerebellar ataxia-dysmorphism syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010064 MONDO:0017847 True spastic ataxia-corneal dystrophy syndrome autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010066 MONDO:0003778 True familial isolated congenital asplenia inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010068 MONDO:0100510 True spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010072 MONDO:0006025 True spondyloepiphyseal dysplasia tarda, autosomal recessive autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010072 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010073 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, Kohn type spondyloepiphyseal dysplasia tarda SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010075 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010077 MONDO:0100510 True spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010078 MONDO:0022800 True spondyloperipheral dysplasia type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010079 MONDO:0017686 True Canavan disease inborn aminoacylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010079 MONDO:0019046 True Canavan disease leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010080 MONDO:0003122 True familial infantile bilateral striatal necrosis striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010080 MONDO:0015518 True familial infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010083 MONDO:0000698 True succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010087 MONDO:0019054 True Sugarman brachydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0015327 True mucosulfatidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0019255 True mucosulfatidosis sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0800088 True mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010089 MONDO:0019358 True isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010090 MONDO:0015338 True Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010092 MONDO:0015159 True Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0005497 True spondylocarpotarsal synostosis syndrome bone development disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0019690 True spondylocarpotarsal synostosis syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010094 MONDO:0019694 True spondylocarpotarsal synostosis syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010095 MONDO:0100309 True ataxia-tapetoretinal degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010099 MONDO:0017720 True Tay-Sachs disease AB variant GM2 gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010100 MONDO:0017720 True Tay-Sachs disease GM2 gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010100 MONDO:0020127 True Tay-Sachs disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010100 MONDO:0020143 True Tay-Sachs disease cerebral lipidosis with dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010101 MONDO:0019287 True Teebi-Shaltout syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010108 MONDO:0018202 True testicular germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010108 MONDO:0021348 True testicular germ cell tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0015161 True tetraamelia-multiple malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0018234 True tetraamelia-multiple malformations syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0019054 True tetraamelia-multiple malformations syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010111 MONDO:0019287 True odontotrichomelic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010115 MONDO:0015929 True thoracic dysplasia-hydrocephalus syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010116 MONDO:0015929 True thoracomelic dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010116 MONDO:0019691 True thoracomelic dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010117 MONDO:0007477 True 3M syndrome 1 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010120 MONDO:0100241 True thrombocytopenia 3 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0002254 True thrombocytopenia-absent radius syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0018234 True thrombocytopenia-absent radius syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0018795 True thrombocytopenia-absent radius syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0019054 True thrombocytopenia-absent radius syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0018896 True congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0021181 True congenital thrombotic thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010125 MONDO:0015159 True upper limb defect-eye and ear abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010129 MONDO:0015161 True thymic-renal-anal-lung dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010130 MONDO:0019238 True dihydropyrimidine dehydrogenase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010132 MONDO:0018612 True familial thyroid dyshormonogenesis congenital hypothyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010133 MONDO:0010132 True thyroid dyshormonogenesis 2A familial thyroid dyshormonogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010134 MONDO:0002254 True Pendred syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010134 MONDO:0006025 True Pendred syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010134 MONDO:0018612 True Pendred syndrome congenital hypothyroidism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010135 MONDO:0010132 True thyroid dyshormonogenesis 3 familial thyroid dyshormonogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010136 MONDO:0010132 True thyroid dyshormonogenesis 4 familial thyroid dyshormonogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010137 MONDO:0010132 True thyroid dyshormonogenesis 5 familial thyroid dyshormonogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010139 MONDO:0000045 True isolated thyroid-stimulating hormone deficiency hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010139 MONDO:0016410 True isolated thyroid-stimulating hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010139 MONDO:0019824 True isolated thyroid-stimulating hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010142 MONDO:0000045 True hypothyroidism due to TSH receptor mutations hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010144 MONDO:0016240 True tibial hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0000424 True transcobalamin II deficiency inborn vitamin B12 deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0016624 True transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0019220 True transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010152 MONDO:0019287 True trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010153 MONDO:0019287 True trichoodontoonychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010154 MONDO:0015161 True trigonocephaly-bifid nose-acral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010155 MONDO:0015611 True Dorfman-Chanarin disease neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010156 MONDO:0015150 True Troyer syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010159 MONDO:0031219 True mismatch repair cancer syndrome 1 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010160 MONDO:0004741 True tyrosinemia type II tyrosinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010160 MONDO:0017672 True tyrosinemia type II focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010161 MONDO:0004741 True tyrosinemia type I tyrosinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010162 MONDO:0004741 True tyrosinemia type III tyrosinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010164 MONDO:0018234 True phocomelia, Schinzel type dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010164 MONDO:0019054 True phocomelia, Schinzel type congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010165 MONDO:0018234 True ulna hypoplasia-intellectual disability syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010165 MONDO:0019054 True ulna hypoplasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010167 MONDO:0019228 True urocanic aciduria inborn disorder of histidine metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010168 MONDO:0019501 True Usher syndrome type 1 Usher syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010169 MONDO:0016484 True Usher syndrome type 2A Usher syndrome type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010170 MONDO:0016485 True Usher syndrome type 3A Usher syndrome type 3 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010171 MONDO:0010168 True Usher syndrome type 1C Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010173 MONDO:0017771 True Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Kuster-Hauser syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010176 MONDO:0015375 True orofaciodigital syndrome type 6 orofaciodigital syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010176 MONDO:0020022 True orofaciodigital syndrome type 6 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010178 MONDO:0018801 True congenital bilateral aplasia of vas deferens from CFTR mutation congenital bilateral absence of vas deferens SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010179 MONDO:0020291 True isolated right ventricular hypoplasia hypoplastic right heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010180 MONDO:0017747 True autosomal recessive spondylocostal dysostosis disorder of fucoglycosan synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010183 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010184 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010184 MONDO:0020127 True methylmalonic aciduria and homocystinuria type cblC hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010185 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010187 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 1 congenital vitamin K-dependent coagulation factors deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010188 MONDO:0005528 True familial isolated deficiency of vitamin E inborn vitamin metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010188 MONDO:0020044 True familial isolated deficiency of vitamin E autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010188 MONDO:0020127 True familial isolated deficiency of vitamin E hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010190 MONDO:0016759 True pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010191 MONDO:0019565 True von Willebrand disease 3 hereditary von Willebrand disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0002254 True Weaver syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0015159 True Weaver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0018230 True Weaver syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010193 MONDO:0019716 True Weaver syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010194 MONDO:0018096 True Weill-Marchesani syndrome 1 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010196 MONDO:0002254 True Werner syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010196 MONDO:0006025 True Werner syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010196 MONDO:0015333 True Werner syndrome progeroid syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010197 MONDO:0008675 True whistling face syndrome, recessive form Freeman-Sheldon syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010198 MONDO:0006873 True Wernicke-Korsakoff syndrome nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010199 MONDO:0015161 True white forelock with malformations multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010200 MONDO:0004689 True Wilson disease inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010200 MONDO:0017762 True Wilson disease disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010203 MONDO:0015159 True intellectual disability, Wolff type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010206 MONDO:0003037 True hypotrichosis 8 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010208 MONDO:0018163 True wrinkly skin syndrome autosomal recessive cutis laxa type 2A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010209 MONDO:0018106 True xanthinuria type I hereditary xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010210 MONDO:0019600 True xeroderma pigmentosum group A xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010211 MONDO:0019600 True xeroderma pigmentosum group C xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010212 MONDO:0019600 True xeroderma pigmentosum group D xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010213 MONDO:0019600 True xeroderma pigmentosum group E xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010214 MONDO:0019600 True xeroderma pigmentosum variant type xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010215 MONDO:0019600 True xeroderma pigmentosum group F xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010216 MONDO:0019600 True xeroderma pigmentosum group G xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010217 MONDO:0002254 True de Sanctis-Cacchione syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010217 MONDO:0003847 True de Sanctis-Cacchione syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010218 MONDO:0100249 True 46,XX sex reversal 2 46,XX testicular disorder of sex development SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0015159 True CHIME syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0015327 True CHIME syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0017748 True CHIME syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0019287 True CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010224 MONDO:0002254 True corpus callosum agenesis-abnormal genitalia syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010224 MONDO:0003847 True corpus callosum agenesis-abnormal genitalia syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010228 MONDO:0019586 True hearing loss, X-linked 3 X-linked nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010229 MONDO:0000005 True alopecia, congenital alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010230 MONDO:0019181 True intellectual disability, X-linked 23 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010231 MONDO:0019181 True intellectual disability, X-linked 20 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010232 MONDO:0003847 True intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010233 MONDO:0020341 True heterotopia, periventricular, X-linked dominant periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010235 MONDO:0020119 True X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010236 MONDO:0019181 True intellectual disability, X-linked 14 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010237 MONDO:0015159 True X-linked intellectual disability-plagiocephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010237 MONDO:0015338 True X-linked intellectual disability-plagiocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010238 MONDO:0019586 True hearing loss, X-linked 4 X-linked nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010239 MONDO:0015146 True lissencephaly type 1 due to doublecortin gene mutation classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010242 MONDO:0008824 True fetal akinesia syndrome, X-linked fetal akinesia deformation sequence SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010243 MONDO:0003778 True X-linked immunoneurologic disorder inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010246 MONDO:0016160 True developmental and epileptic encephalopathy, 9 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010246 MONDO:0100062 True developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010247 MONDO:0018544 True X-linked cerebral adrenoleukodystrophy adrenoleukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010250 MONDO:0020119 True intellectual disability, X-linked 49 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010251 MONDO:0019181 True intellectual disability, X-linked 50 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010253 MONDO:0100246 True migraine, familial typical, susceptibility to, 2 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010256 MONDO:0019181 True intellectual disability, X-linked 21 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010258 MONDO:0020119 True MEHMO syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010259 MONDO:0019200 True retinitis pigmentosa 24 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010261 MONDO:0016073 True microphthalmia, syndromic 2 syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010263 MONDO:0002254 True Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010264 MONDO:0000425 True X-linked adrenal hypoplasia congenita X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010264 MONDO:0015129 True X-linked adrenal hypoplasia congenita chronic primary adrenal insufficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010264 MONDO:0015770 True X-linked adrenal hypoplasia congenita congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010265 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 2 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010266 MONDO:0019181 True intellectual disability, X-linked 58 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010268 MONDO:0000425 True X-linked lissencephaly with abnormal genitalia X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010268 MONDO:0018838 True X-linked lissencephaly with abnormal genitalia lissencephaly spectrum disorders SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010269 MONDO:0004348 True Coats disease retinal telangiectasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010270 MONDO:0015159 True syndromic X-linked intellectual disability 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010270 MONDO:0020119 True syndromic X-linked intellectual disability 7 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010271 MONDO:0017007 True X-linked myotubular myopathy-abnormal genitalia syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010271 MONDO:0020040 True X-linked myotubular myopathy-abnormal genitalia syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010277 MONDO:0015159 True syndromic X-linked intellectual disability Shashi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010277 MONDO:0020119 True syndromic X-linked intellectual disability Shashi type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010278 MONDO:0003847 True Christianson syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010279 MONDO:0019690 True terminal osseous dysplasia-pigmentary defects syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010279 MONDO:0019695 True terminal osseous dysplasia-pigmentary defects syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010281 MONDO:0002412 True Danon disease disorder of glycogen metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010281 MONDO:0017738 True Danon disease lysosomal glycogen storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0015159 True syndromic X-linked intellectual disability Lubs type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0017010 True syndromic X-linked intellectual disability Lubs type partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0020119 True syndromic X-linked intellectual disability Lubs type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010285 MONDO:0015159 True syndromic X-linked intellectual disability Abidi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010285 MONDO:0020119 True syndromic X-linked intellectual disability Abidi type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010286 MONDO:0015159 True syndromic X-linked intellectual disability Siderius type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010286 MONDO:0020119 True syndromic X-linked intellectual disability Siderius type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010287 MONDO:0019064 True hereditary spastic paraplegia 16 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010289 MONDO:0019181 True intellectual disability, X-linked 72 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010290 MONDO:0000334 True goiter, multinodular 2 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010293 MONDO:0003778 True ectodermal dysplasia and immune deficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010294 MONDO:0000425 True X-linked severe congenital neutropenia X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010294 MONDO:0018542 True X-linked severe congenital neutropenia severe congenital neutropenia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010295 MONDO:0017198 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010295 MONDO:0019287 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010296 MONDO:0015977 True immunodeficiency 61 agammaglobulinemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010298 MONDO:0016088 True Lesch-Nyhan syndrome hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010299 MONDO:0016088 True hypoxanthine guanine phosphoribosyltransferase partial deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010300 MONDO:0019181 True intellectual disability, X-linked 53 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010305 MONDO:0000456 True creatine transporter deficiency cerebral creatine deficiency syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010305 MONDO:0015159 True creatine transporter deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010306 MONDO:0015159 True X-linked intellectual disability, Cabezas type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010306 MONDO:0020119 True X-linked intellectual disability, Cabezas type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010307 MONDO:0019181 True intellectual disability, X-linked 73 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010309 MONDO:0019181 True intellectual disability, X-linked 42 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010310 MONDO:0017198 True osteopathia striata with cranial sclerosis osteopetrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010311 MONDO:0020121 True Becker muscular dystrophy muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010313 MONDO:0019181 True intellectual disability, X-linked 63 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010315 MONDO:0031520 True T-B+ severe combined immunodeficiency due to gamma chain deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010315 MONDO:0044200 True T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or without seizures, arx-related non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010319 MONDO:0016160 True syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010321 MONDO:0020836 True autism, susceptibility to, X-linked 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010326 MONDO:0019181 True intellectual disability, X-linked 46 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010328 MONDO:0002254 True alpha-thalassemia-myelodysplastic syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010328 MONDO:0005570 True alpha-thalassemia-myelodysplastic syndrome hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010329 MONDO:0019181 True intellectual disability, X-linked 77 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010332 MONDO:0015159 True X-linked intellectual disability-cubitus valgus-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010333 MONDO:0020119 True corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010334 MONDO:0044807 True severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010336 MONDO:0015375 True orofaciodigital syndrome VIII orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010337 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010337 MONDO:0020119 True X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010338 MONDO:0000425 True X-linked distal spinal muscular atrophy type 3 X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010338 MONDO:0001516 True X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010338 MONDO:0018894 True X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010339 MONDO:0859390 True epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010341 MONDO:0020836 True autism, susceptibility to, X-linked 2 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010342 MONDO:0020836 True autism, susceptibility to, X-linked 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010350 MONDO:0019852 True premature ovarian failure 2A inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010351 MONDO:0019391 True Fanconi anemia complementation group B Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010352 MONDO:0019181 True intellectual disability, X-linked 82 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010355 MONDO:0015159 True syndromic X-linked intellectual disability Claes-Jensen type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010356 MONDO:0015962 True nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010358 MONDO:0020605 True hypophosphatemic rickets, X-linked recessive X-linked recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010362 MONDO:0002412 True glycogen storage disease IXd disorder of glycogen metabolism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010364 MONDO:0017004 True X-linked intellectual disability-retinitis pigmentosa syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010365 MONDO:0009711 True myopathy, congenital, with fiber-type disproportion, X-linked congenital fiber-type disproportion myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010367 MONDO:0018230 True SHOX-related short stature skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010369 MONDO:0005712 True nystagmus 5, congenital, X-linked congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010370 MONDO:0016033 True Cornelia de Lange syndrome 2 Cornelia de Lange syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010371 MONDO:0000425 True Aland island eye disease X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010373 MONDO:0019852 True premature ovarian failure 2B inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010374 MONDO:0019200 True retinitis pigmentosa 34 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010375 MONDO:0016160 True developmental and epileptic encephalopathy, 8 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010375 MONDO:0100062 True developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010377 MONDO:0001384 True myopia 13, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010378 MONDO:0015364 True X-linked hereditary sensory and autonomic neuropathy with hearing loss hereditary sensory and autonomic neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010378 MONDO:0021944 True X-linked hereditary sensory and autonomic neuropathy with hearing loss auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010379 MONDO:0004736 True Brunner syndrome inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010379 MONDO:0019219 True Brunner syndrome inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010379 MONDO:0020605 True Brunner syndrome X-linked recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010382 MONDO:0016612 True fragile X-associated tremor/ataxia syndrome X-linked cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010383 MONDO:0002254 True fragile X syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010383 MONDO:0003847 True fragile X syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010384 MONDO:0005345 True hypospadias 1, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010385 MONDO:0010627 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010385 MONDO:0020605 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010386 MONDO:0003778 True immunodeficiency 33 inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010389 MONDO:0017905 True X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010390 MONDO:0017304 True ocular albinism with late-onset sensorineural deafness ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010392 MONDO:0002412 True glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycogen metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010393 MONDO:0019181 True intellectual disability, X-linked 93 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010395 MONDO:0019236 True phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010396 MONDO:0100062 True developmental and epileptic encephalopathy, 2 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010397 MONDO:0015653 True severe neonatal-onset encephalopathy with microcephaly monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010397 MONDO:0020070 True severe neonatal-onset encephalopathy with microcephaly neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010398 MONDO:0020119 True syndromic X-linked intellectual disability 14 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010399 MONDO:0010613 True chromosome Xp21 deletion syndrome inborn glycerol kinase deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010399 MONDO:0017004 True chromosome Xp21 deletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010402 MONDO:0020119 True syndromic X-linked intellectual disability 94 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010403 MONDO:0019290 True albinism-hearing loss syndrome hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010404 MONDO:0016612 True X-linked non progressive cerebellar ataxia X-linked cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010406 MONDO:0019181 True chromosome Xp11.22 duplication syndrome non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010407 MONDO:0020119 True intellectual disability, X-linked syndromic, Turner type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010408 MONDO:0002254 True syndactyly-telecanthus-anogenital and renal malformations syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010408 MONDO:0015161 True syndactyly-telecanthus-anogenital and renal malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010408 MONDO:0019054 True syndactyly-telecanthus-anogenital and renal malformations syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010409 MONDO:0020119 True syndromic X-linked intellectual disability Shrimpton type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010410 MONDO:0000005 True alopecia, androgenetic, 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010411 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 4 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010413 MONDO:0019181 True intellectual disability, X-linked 95 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010417 MONDO:0020022 True syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010418 MONDO:0015149 True hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010420 MONDO:0001676 True X-linked erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010421 MONDO:0016462 True Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010424 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 4 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010425 MONDO:0000763 True Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010425 MONDO:0020212 True Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010426 MONDO:0000766 True X-linked endothelial corneal dystrophy corneal endothelial dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010426 MONDO:0020214 True X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010427 MONDO:0020119 True syndromic X-linked intellectual disability Raymond type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010428 MONDO:0015159 True chromosome Xp11.23-p11.22 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010428 MONDO:0017009 True chromosome Xp11.23-p11.22 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010429 MONDO:0019181 True intellectual disability, X-linked 96 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010430 MONDO:0019181 True intellectual disability, X-linked 97 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010431 MONDO:0018772 True Joubert syndrome 10 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010432 MONDO:0100240 True thrombophilia, X-linked, due to factor 9 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010438 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010440 MONDO:0020836 True autism, susceptibility to, X-linked 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010441 MONDO:0003847 True CK syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010442 MONDO:0100249 True 46,XX sex reversal 3 46,XX testicular disorder of sex development SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010444 MONDO:0019403 True X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010448 MONDO:0016820 True moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010449 MONDO:0020836 True autism, susceptibility to, X-linked 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010453 MONDO:0019181 True intellectual disability, X-linked 92 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010454 MONDO:0019181 True intellectual disability, X-linked 88 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010455 MONDO:0015131 True X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010457 MONDO:0015333 True Ogden syndrome progeroid syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010458 MONDO:0005345 True hypospadias 4, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010459 MONDO:0005144 True amyotrophic lateral sclerosis type 15 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010460 MONDO:0020119 True syndromic X-linked intellectual disability 17 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010461 MONDO:0020119 True syndromic X-linked intellectual disability Nascimento type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010462 MONDO:0020119 True syndromic X-linked intellectual disability Chudley-Schwartz type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010463 MONDO:0002254 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010463 MONDO:0003847 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010464 MONDO:0020022 True X-linked cerebral-cerebellar-coloboma syndrome syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010465 MONDO:0016512 True Kabuki syndrome 2 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 2 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0100062 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental and epileptic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010467 MONDO:0017010 True Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010469 MONDO:0020836 True epsilon-trimethyllysine hydroxylase deficiency autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010472 MONDO:0005500 True developmental and epileptic encephalopathy, 36 congenital disorder of glycosylation type I UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010472 MONDO:0017740 True developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010472 MONDO:0100062 True developmental and epileptic encephalopathy, 36 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010473 MONDO:0020119 True X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010474 MONDO:0010672 True linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010475 MONDO:0000425 True X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010475 MONDO:0002254 True X-linked central congenital hypothyroidism with late-onset testicular enlargement syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010475 MONDO:0016410 True X-linked central congenital hypothyroidism with late-onset testicular enlargement central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010476 MONDO:0018307 True neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010478 MONDO:0005501 True SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010478 MONDO:0015327 True SLC35A2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010478 MONDO:0017749 True SLC35A2-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010479 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease type X SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010484 MONDO:0019586 True hearing loss, X-linked 6 X-linked nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010485 MONDO:0000425 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010485 MONDO:0015159 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010485 MONDO:0016073 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010486 MONDO:0031421 True Olmsted syndrome, X-linked Olmsted syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010487 MONDO:0019181 True intellectual disability, X-linked 99 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010488 MONDO:0019181 True intellectual disability, X-linked 100 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010489 MONDO:0019181 True intellectual disability, X-linked 101 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0005500 True SSR4-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0015159 True SSR4-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0017740 True SSR4-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010492 MONDO:0017824 True pituitary adenoma, growth hormone-secreting, 2 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010493 MONDO:0015253 True Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010494 MONDO:0010672 True linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010495 MONDO:0018053 True trichothiodystrophy 5, nonphotosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010496 MONDO:0015159 True X-linked intellectual disability-short stature-overweight syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010496 MONDO:0020119 True X-linked intellectual disability-short stature-overweight syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010498 MONDO:0019240 True MEND syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010499 MONDO:0019078 True Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010500 MONDO:0020119 True intellectual disability, X-linked, syndromic 33 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010501 MONDO:0015159 True syndromic X-linked intellectual disability 34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010501 MONDO:0020119 True syndromic X-linked intellectual disability 34 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010502 MONDO:0020119 True intellectual disability, X-linked 99, syndromic, female-restricted X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010503 MONDO:0015231 True Bartter disease type 5 Bartter syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010504 MONDO:0003778 True immunodeficiency 47 inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010505 MONDO:0015159 True intellectual disability-balding-patella luxation-acromicria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010505 MONDO:0019695 True intellectual disability-balding-patella luxation-acromicria syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010506 MONDO:0019181 True intellectual disability, X-linked 61 non-syndromic X-linked intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010507 MONDO:0017010 True Xq25 microduplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010508 MONDO:0019181 True intellectual disability, X-linked 103 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010509 MONDO:0019181 True intellectual disability, X-linked 104 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010510 MONDO:0019181 True intellectual disability, X-linked 105 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010511 MONDO:0018801 True vas deferens, congenital bilateral aplasia of, X-linked congenital bilateral absence of vas deferens SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010512 MONDO:0020119 True intellectual disability, X-linked, syndromic, Bain type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010514 MONDO:0003778 True combined immunodeficiency due to moesin deficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010514 MONDO:0021094 True combined immunodeficiency due to moesin deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010515 MONDO:0002254 True Meester-Loeys syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010515 MONDO:0003847 True Meester-Loeys syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010516 MONDO:0003847 True midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010517 MONDO:0016575 True ciliary dyskinesia, primary, 36, X-linked primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010518 MONDO:0000425 True Wiskott-Aldrich syndrome X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010518 MONDO:0015356 True Wiskott-Aldrich syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010518 MONDO:0021181 True Wiskott-Aldrich syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010519 MONDO:0020040 True alpha thalassemia-X-linked intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010520 MONDO:0000425 True X-linked Alport syndrome X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010520 MONDO:0018965 True X-linked Alport syndrome Alport syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010522 MONDO:0019507 True X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010524 MONDO:0016612 True X-linked sideroblastic anemia with ataxia X-linked cerebellar ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010524 MONDO:0020099 True X-linked sideroblastic anemia with ataxia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010526 MONDO:0015327 True Fabry disease developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010526 MONDO:0019255 True Fabry disease sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010529 MONDO:0016612 True X-linked spinocerebellar ataxia type 3 X-linked cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010531 MONDO:0019287 True contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010532 MONDO:0001516 True infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010532 MONDO:0015168 True infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010532 MONDO:0024257 True infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010533 MONDO:0003847 True Arts syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010534 MONDO:0016612 True X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010538 MONDO:0019054 True Mononen-Karnes-Senac syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010542 MONDO:0016333 True dilated cardiomyopathy 3B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0009637 True Barth syndrome inborn mitochondrial myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0015134 True Barth syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0016333 True Barth syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0017359 True Barth syndrome 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010543 MONDO:0018117 True Barth syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010545 MONDO:0003847 True Nance-Horan syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010547 MONDO:0016612 True X-linked progressive cerebellar ataxia X-linked cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010548 MONDO:0016612 True spinocerebellar ataxia, X-linked 2 X-linked cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010549 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type X SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010550 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease type X SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010551 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease type X SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010554 MONDO:0002254 True Abruzzo-Erickson syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010554 MONDO:0003847 True Abruzzo-Erickson syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010554 MONDO:0015161 True Abruzzo-Erickson syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010556 MONDO:0000425 True X-linked chondrodysplasia punctata X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010557 MONDO:0001898 True choroideremia optic choroid disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010559 MONDO:0015150 True MASA syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010559 MONDO:0017140 True MASA syndrome L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010560 MONDO:0016064 True cleft palate with or without ankyloglossia, X-linked cleft palate SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010563 MONDO:0018852 True blue cone monochromacy achromatopsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010563 MONDO:0020605 True blue cone monochromacy X-linked recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010565 MONDO:0001703 True red color blindness color vision disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010565 MONDO:0005328 True red color blindness eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010568 MONDO:0002254 True Aicardi syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010569 MONDO:0017140 True X-linked complicated corpus callosum dysgenesis L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010570 MONDO:0002254 True craniofrontonasal syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010572 MONDO:0017762 True occipital horn syndrome disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0015159 True syndromic X-linked intellectual disability 5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0020022 True syndromic X-linked intellectual disability 5 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0020119 True syndromic X-linked intellectual disability 5 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010576 MONDO:0019586 True X-linked mixed hearing loss with perilymphatic gusher X-linked nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010577 MONDO:0019586 True hearing loss, X-linked 1 X-linked nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010578 MONDO:0024237 True deafness dystonia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0003847 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0015126 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0019787 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010581 MONDO:0000425 True diabetes insipidus, nephrogenic, X-linked X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010581 MONDO:0016383 True diabetes insipidus, nephrogenic, X-linked nephrogenic diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010584 MONDO:0000425 True dyskeratosis congenita, X-linked X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010585 MONDO:0000425 True X-linked hypohidrotic ectodermal dysplasia X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010585 MONDO:0016535 True X-linked hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010586 MONDO:0020066 True X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010588 MONDO:0000425 True exudative vitreoretinopathy 2, X-linked X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010588 MONDO:0019516 True exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010589 MONDO:0000425 True Aarskog-Scott syndrome, X-linked X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010589 MONDO:0021005 True Aarskog-Scott syndrome, X-linked faciodigitogenital syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010591 MONDO:0019952 True fingerprint body myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010592 MONDO:0019755 True focal dermal hypoplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010600 MONDO:0018305 True granulomatous disease, chronic, X-linked chronic granulomatous disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010602 MONDO:0000425 True hemophilia A X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010602 MONDO:0018660 True hemophilia A hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010602 MONDO:0021181 True hemophilia A inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010604 MONDO:0018660 True hemophilia B hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010604 MONDO:0021181 True hemophilia B inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010606 MONDO:0005711 True hernia, anterior diaphragmatic congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010607 MONDO:0018677 True heterotaxy, visceral, 1, X-linked visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010610 MONDO:0020022 True holoprosencephaly-hypokinesia-congenital contractures syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010611 MONDO:0016349 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010611 MONDO:0017140 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010613 MONDO:0019052 True inborn glycerol kinase deficiency inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010614 MONDO:0016381 True X-linked congenital generalized hypertrichosis hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010615 MONDO:0000050 True isolated growth hormone deficiency type III isolated congenital growth hormone deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010617 MONDO:0015159 True male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010619 MONDO:0020604 True X-linked dominant hypophosphatemic rickets X-linked dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0015161 True CHILD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0017269 True CHILD syndrome X-linked ichthyosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0019240 True CHILD syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0019701 True CHILD syndrome chondrodysplasia punctata UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010622 MONDO:0015947 True recessive X-linked ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010622 MONDO:0020605 True recessive X-linked ichthyosis X-linked recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010626 MONDO:0000425 True hyper-IgM syndrome type 1 X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0000425 True X-linked lymphoproliferative syndrome X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0015541 True X-linked lymphoproliferative syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0016537 True X-linked lymphoproliferative syndrome lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010631 MONDO:0019287 True incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010637 MONDO:0000136 True keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010641 MONDO:0017007 True X-linked diffuse leiomyomatosis-Alport syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010643 MONDO:0005059 True acute leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010645 MONDO:0002254 True oculocerebrorenal syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010645 MONDO:0015962 True oculocerebrorenal syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010645 MONDO:0019216 True oculocerebrorenal syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010647 MONDO:0004983 True spermatogenic failure, X-linked, 2 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010650 MONDO:0018233 True Melnick-Needles syndrome otopalatodigital syndrome spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010651 MONDO:0004689 True Menkes disease inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010651 MONDO:0017762 True Menkes disease disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010653 MONDO:0020119 True Renpenning syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010654 MONDO:0020119 True Partington syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010655 MONDO:0015159 True X-linked intellectual disability with marfanoid habitus multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010656 MONDO:0019181 True intellectual disability, X-linked 1 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010657 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblX methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010657 MONDO:0019181 True methylmalonic acidemia with homocystinuria, type cblX non-syndromic X-linked intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010658 MONDO:0020119 True syndromic X-linked intellectual disability 12 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010659 MONDO:0019181 True FRAXE intellectual disability non-syndromic X-linked intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010660 MONDO:0019181 True intellectual disability, X-linked 9 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010661 MONDO:0020119 True severe X-linked intellectual disability, Gustavson type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010664 MONDO:0020119 True syndromic X-linked intellectual disability Snyder type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010665 MONDO:0020119 True Wilson-Turner syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010667 MONDO:0020119 True Prieto syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010668 MONDO:0019694 True skeletal dysplasia-intellectual disability syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010669 MONDO:0019530 True syndactyly type 8 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010671 MONDO:0016073 True microphthalmia, syndromic 1 syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010672 MONDO:0016073 True linear skin defects with multiple congenital anomalies syndromic microphthalmia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010672 MONDO:0019294 True linear skin defects with multiple congenital anomalies mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010674 MONDO:0019249 True mucopolysaccharidosis type 2 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010674 MONDO:0800088 True mucopolysaccharidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010679 MONDO:0020121 True Duchenne muscular dystrophy muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010680 MONDO:0016830 True X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010683 MONDO:0018947 True X-linked myotubular myopathy centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010684 MONDO:0016106 True X-linked myopathy with excessive autophagy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010684 MONDO:0016112 True X-linked myopathy with excessive autophagy hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010685 MONDO:0001384 True myopia 1, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010686 MONDO:0015159 True N syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010686 MONDO:0015356 True N syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010688 MONDO:0015364 True hereditary sensory neuropathy X-linked hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010689 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease type X SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010693 MONDO:0005712 True nystagmus 1, congenital, X-linked congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010698 MONDO:0043878 True optic atrophy 2 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010699 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease type X SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010699 MONDO:0019236 True Charcot-Marie-Tooth disease X-linked recessive 5 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010702 MONDO:0002254 True orofaciodigital syndrome I syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010706 MONDO:0019852 True premature ovarian failure 1 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010711 MONDO:0003847 True TARP syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010712 MONDO:0019591 True panhypopituitarism, X-linked panhypopituitarism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010713 MONDO:0003778 True properdin deficiency, X-linked inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010714 MONDO:0019046 True Pelizeaus-Merzbacher spectrum disorder leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010717 MONDO:0019169 True pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010718 MONDO:0018234 True absent radius-anogenital anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010718 MONDO:0019054 True absent radius-anogenital anomalies syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010720 MONDO:0019154 True partial androgen insensitivity syndrome androgen insensitivity syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010723 MONDO:0019200 True retinitis pigmentosa 2 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010725 MONDO:0000425 True X-linked retinoschisis X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010725 MONDO:0004579 True X-linked retinoschisis retinoschisis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010726 MONDO:0000594 True Rett syndrome pervasive developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010731 MONDO:0019716 True Simpson-Golabi-Behmel syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010732 MONDO:0003847 True spastic paraparesis-deafness syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010733 MONDO:0019046 True hereditary spastic paraplegia 2 leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010733 MONDO:0019064 True hereditary spastic paraplegia 2 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010735 MONDO:0024237 True Kennedy disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010736 MONDO:0016576 True split hand-foot malformation 2 split hand-foot malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010737 MONDO:0000425 True spondyloepiphyseal dysplasia tarda, X-linked X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010737 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010738 MONDO:0016763 True spondylometaphyseal dysplasia, Golden type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010741 MONDO:0005486 True tooth agenesis, selective, X-linked, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010742 MONDO:0015161 True pentalogy of Cantrell multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010743 MONDO:0100241 True thrombocytopenia 1 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010745 MONDO:0017145 True beta-thalassemia-X-linked thrombocytopenia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010747 MONDO:0000477 True X-linked dystonia-parkinsonism focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010747 MONDO:0020065 True X-linked dystonia-parkinsonism combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010750 MONDO:0018234 True ulnar hypoplasia-split foot syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010750 MONDO:0019054 True ulnar hypoplasia-split foot syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010752 MONDO:0008642 True VACTERL association, X-linked, with or without hydrocephalus VACTERL/vater association SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010753 MONDO:0003847 True cardiac valvular dysplasia, X-linked hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010758 MONDO:0025445 True Wieacker-Wolff syndrome Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010761 MONDO:0000428 True retinitis pigmentosa Y-linked Y-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010763 MONDO:0010595 True spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010768 MONDO:0002478 True gonadoblastoma mixed germ cell-sex cord-stromal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010771 MONDO:0004069 True histiocytoid cardiomyopathy inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010771 MONDO:0016333 True histiocytoid cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010772 MONDO:0020478 True Leber optic atrophy and dystonia Leber plus disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010775 MONDO:0019501 True retinitis pigmentosa-deafness syndrome Usher syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010779 MONDO:0016387 True mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010782 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010785 MONDO:0015967 True maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010785 MONDO:0016387 True maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010786 MONDO:0016387 True chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0005181 True Kearns-Sayre syndrome progressive external ophthalmoplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0016333 True Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0016387 True Kearns-Sayre syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0020127 True Kearns-Sayre syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0016387 True Leber hereditary optic neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0020249 True Leber hereditary optic neuropathy hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010789 MONDO:0004675 True MELAS syndrome mitochondrial encephalomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0004675 True MERRF syndrome mitochondrial encephalomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0016333 True MERRF syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0020127 True MERRF syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0016387 True NARP syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0020127 True NARP syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010795 MONDO:0024276 True oncocytic neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010800 MONDO:0018105 True Wolfram syndrome, mitochondrial form Wolfram syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010801 MONDO:0019694 True spondylocamptodactyly syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010802 MONDO:0002254 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010802 MONDO:0003847 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010803 MONDO:0018230 True Eiken syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010805 MONDO:0017919 True bladder exstrophy exstrophy-epispadias complex SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010806 MONDO:0019200 True retinitis pigmentosa 13 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010807 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 2 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010808 MONDO:0005429 True fatal familial insomnia prion disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010808 MONDO:0024237 True fatal familial insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010809 MONDO:0011996 True familial chronic myelocytic leukemia-like syndrome chronic myelogenous leukemia, BCR-ABL1 positive SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010811 MONDO:0003105 True benign prostatic hyperplasia prostate disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010814 MONDO:0002254 True chondrodysplasia-pseudohermaphroditism syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010814 MONDO:0020040 True chondrodysplasia-pseudohermaphroditism syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010815 MONDO:0019667 True spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010816 MONDO:0002254 True Qazi Markouizos syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010817 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010818 MONDO:0019200 True retinitis pigmentosa 12 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010820 MONDO:0017279 True autosomal recessive juvenile Parkinson disease 2 young-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010821 MONDO:0016226 True familial developmental dysphasia specific language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010822 MONDO:0016649 True Warburg micro syndrome 1 Warburg micro syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010823 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010824 MONDO:0020040 True disorder of sex development-intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010825 MONDO:0015161 True atrioventricular defect-blepharophimosis-radial and anal defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0000414 True childhood absence epilepsy childhood electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0015653 True childhood absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0020072 True childhood absence epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0850093 True childhood absence epilepsy absence epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010827 MONDO:0019200 True retinitis pigmentosa 14 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010828 MONDO:0019200 True retinitis pigmentosa 11 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010831 MONDO:0018639 True familial caudal dysgenesis caudal regression-sirenomelia spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010832 MONDO:0015229 True Bardet-Biedl syndrome 3 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010835 MONDO:0015159 True pterygium colli-intellectual disability-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010836 MONDO:0005514 True nanophthalmos 1 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010837 MONDO:0001741 True primary hyperparathyroidism hyperparathyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010839 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 8 neuronopathy, distal hereditary motor, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010842 MONDO:0000426 True multiple cutaneous and mucosal venous malformations autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010842 MONDO:0005385 True multiple cutaneous and mucosal venous malformations vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010844 MONDO:0015627 True epiphyseal dysplasia, multiple, 2 multiple epiphyseal dysplasia due to collagen 9 anomaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010846 MONDO:0005508 True exostoses, multiple, type III hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010847 MONDO:0019792 True spinocerebellar ataxia type 4 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010848 MONDO:0019793 True spinocerebellar ataxia type 5 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010849 MONDO:0017666 True palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010851 MONDO:0015159 True Lowry-MacLean syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010851 MONDO:0015338 True Lowry-MacLean syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010854 MONDO:0019287 True Toriello-Lacassie-Droste syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010855 MONDO:0015161 True short tarsus-absence of lower eyelashes syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010856 MONDO:0016894 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010856 MONDO:0019741 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010858 MONDO:0015159 True macrocephaly-spastic paraplegia-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010858 MONDO:0019064 True macrocephaly-spastic paraplegia-dysmorphism syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010860 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 3 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010865 MONDO:0015159 True pseudoaminopterin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010866 MONDO:0017198 True infantile osteopetrosis with neuroaxonal dysplasia osteopetrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010867 MONDO:0015161 True PARC syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010870 MONDO:0016108 True tibial muscular dystrophy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010877 MONDO:0020127 True Charcot-Marie-Tooth disease type 5 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010878 MONDO:0019064 True hereditary spastic paraplegia 6 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010879 MONDO:0002254 True CODAS syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010879 MONDO:0015161 True CODAS syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010880 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 2 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010881 MONDO:0016907 True mesomelia-synostoses syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010881 MONDO:0018230 True mesomelia-synostoses syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010882 MONDO:0018234 True aphalangy-syndactyly-microcephaly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010882 MONDO:0019054 True aphalangy-syndactyly-microcephaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010883 MONDO:0015161 True pectus excavatum-macrocephaly-dysplastic nails syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0016901 True 2q37 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0019054 True 2q37 microdeletion syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010887 MONDO:0019280 True isolated anterior cervical hypertrichosis hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010890 MONDO:0015159 True acrocardiofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010893 MONDO:0800188 True malignant hyperthermia, susceptibility to, 4 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010895 MONDO:0006025 True ABCD syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010896 MONDO:0005328 True pigment dispersion syndrome eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010897 MONDO:0005090 True schizophrenia 3 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010898 MONDO:0005115 True autosomal dominant epilepsy with auditory features temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010899 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 1 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010899 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010907 MONDO:0017350 True familial hypertryptophanemia inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010908 MONDO:0004907 True loose anagen syndrome alopecia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010909 MONDO:0015797 True UV-sensitive syndrome 1 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010912 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement congenital fibrosis of extraocular muscles SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010914 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, severe infantile form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010915 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010916 MONDO:0004691 True polycystic kidney disease 3 with or without polycystic liver disease autosomal dominant polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010920 MONDO:0019755 True microtia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010922 MONDO:0004907 True Satoyoshi syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010922 MONDO:0019852 True Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010924 MONDO:0016001 True D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010925 MONDO:0015161 True velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010930 MONDO:0015161 True anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010933 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010936 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010938 MONDO:0031520 True T-B+ severe combined immunodeficiency due to JAK3 deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010938 MONDO:0044200 True T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010939 MONDO:0700225 True low phospholipid associated cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010945 MONDO:0019200 True retinitis pigmentosa 17 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010946 MONDO:0024573 True hypertrophic cardiomyopathy 6 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010949 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010951 MONDO:0016333 True dilated cardiomyopathy 1B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010952 MONDO:0003847 True hereditary hyperferritinemia with congenital cataracts hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010953 MONDO:0019391 True Fanconi anemia complementation group E Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010958 MONDO:0019171 True cardiac arrhythmia, ankyrin-B-related familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010959 MONDO:0015161 True van den Ende-Gupta syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010959 MONDO:0015168 True van den Ende-Gupta syndrome arthrogryposis multiplex congenita UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010961 MONDO:0015770 True obesity due to prohormone convertase I deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010961 MONDO:0019182 True obesity due to prohormone convertase I deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010962 MONDO:0017666 True diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010963 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010964 MONDO:0015627 True epiphyseal dysplasia, multiple, 3 multiple epiphyseal dysplasia due to collagen 9 anomaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010965 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 6 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010966 MONDO:0019648 True achondrogenesis type IB achondrogenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010967 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 7 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010969 MONDO:0015993 True cone-rod dystrophy 5 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010970 MONDO:0003847 True cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010973 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010976 MONDO:0017610 True epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010977 MONDO:0016199 True Brody myopathy qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010979 MONDO:0000426 True Timothy syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010979 MONDO:0019171 True Timothy syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0015161 True absent tibia-polydactyly-arachnoid cyst syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0018234 True absent tibia-polydactyly-arachnoid cyst syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010981 MONDO:0019054 True absent tibia-polydactyly-arachnoid cyst syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010983 MONDO:0016058 True dystonia 9 paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010984 MONDO:0010168 True Usher syndrome type 1D Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010985 MONDO:0000160 True epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010986 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 9 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010986 MONDO:0021944 True autosomal recessive nonsyndromic hearing loss 9 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010987 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 8 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010989 MONDO:0017771 True Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Kuster-Hauser syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010992 MONDO:0002254 True Ayme-Gripp syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010992 MONDO:0003847 True Ayme-Gripp syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010993 MONDO:0015159 True Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010995 MONDO:0019011 True Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010996 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010997 MONDO:0019037 True supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010997 MONDO:0024237 True supranuclear palsy, progressive, 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010998 MONDO:0017740 True ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010999 MONDO:0015159 True fallot complex-intellectual disability-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011001 MONDO:0015263 True Brugada syndrome 1 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011002 MONDO:0015626 True neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011003 MONDO:0016333 True dilated cardiomyopathy 1E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011004 MONDO:0015148 True lissencephaly type 3-metacarpal bone dysplasia syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011007 MONDO:0015161 True diaphragmatic defect-limb deficiency-skull defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011008 MONDO:0015161 True cleft lip/palate-intestinal malrotation-cardiopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0015161 True Matthew-Wood syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0015929 True Matthew-Wood syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011010 MONDO:0016073 True Matthew-Wood syndrome syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011011 MONDO:0019054 True skeletal dysplasia-epilepsy-short stature syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011012 MONDO:0006507 True African iron overload hereditary hemochromatosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011013 MONDO:0018543 True autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011014 MONDO:0005933 True pleuropulmonary blastoma pulmonary blastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011014 MONDO:0006517 True pleuropulmonary blastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011017 MONDO:0016587 True Naxos disease arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011019 MONDO:0004907 True alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011021 MONDO:0000858 True neuronal intestinal dysplasia, type B neuronal intestinal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011022 MONDO:0002254 True Potocki-Shaffer syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011022 MONDO:0016893 True Potocki-Shaffer syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011023 MONDO:0004335 True hereditary mixed polyposis syndrome digestive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011023 MONDO:0015185 True hereditary mixed polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011025 MONDO:0020043 True Cayman type cerebellar ataxia autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011026 MONDO:0017265 True autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011028 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011028 MONDO:0016144 True autosomal recessive limb-girdle muscular dystrophy type 2F qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011028 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011031 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011032 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011035 MONDO:0019755 True neurofibromatosis-Noonan syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011035 MONDO:0021060 True neurofibromatosis-Noonan syndrome RASopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011038 MONDO:0019792 True cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011041 MONDO:0019287 True ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011045 MONDO:0015159 True MMEP syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011045 MONDO:0016073 True MMEP syndrome syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011048 MONDO:0015159 True epilepsy-microcephaly-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011049 MONDO:0015159 True Fine-Lubinsky syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011050 MONDO:0015161 True microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011051 MONDO:0016357 True lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011053 MONDO:0015159 True intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0018234 True autosomal recessive amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0019054 True autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011055 MONDO:0016892 True distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011056 MONDO:0003321 True Wilms tumor 4 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011058 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011059 MONDO:0015338 True holoprosencephaly-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011062 MONDO:0020022 True aprosencephaly cerebellar dysgenesis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011063 MONDO:0019287 True hidrotic ectodermal dysplasia, Christianson-Fourie type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011066 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011067 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 12 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011070 MONDO:0017813 True van Maldergem syndrome 1 van Maldergem syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011071 MONDO:0015356 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011071 MONDO:0021181 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011074 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011075 MONDO:0019200 True retinitis pigmentosa 18 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0016187 True myofibrillar myopathy 1 qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0016333 True myofibrillar myopathy 1 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0018943 True myofibrillar myopathy 1 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0019056 True myofibrillar myopathy 1 neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011079 MONDO:0018230 True rhizomelic dysplasia, Patterson-Lowry type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011081 MONDO:0015161 True dislocation of the hip-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011082 MONDO:0016643 True oculoauriculofrontonasal syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011083 MONDO:0019287 True trichodental syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011085 MONDO:0018995 True Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011086 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011086 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011087 MONDO:0005265 True inflammatory bowel disease 2 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011091 MONDO:0018993 True Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011093 MONDO:0019249 True mucopolysaccharidosis type 9 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011094 MONDO:0018901 True dilated cardiomyopathy 1C left ventricular noncompaction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011094 MONDO:0024573 True dilated cardiomyopathy 1C familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011095 MONDO:0018901 True dilated cardiomyopathy 1D left ventricular noncompaction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011096 MONDO:0016462 True autosomal agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011097 MONDO:0019187 True Axenfeld-Rieger syndrome type 2 Axenfeld-Rieger syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011099 MONDO:0006025 True human HOXA1 syndromes autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011102 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011103 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011104 MONDO:0005129 True cataract 3 multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011107 MONDO:0003037 True congenital hypotrichosis with juvenile macular dystrophy hypotrichosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011107 MONDO:0019287 True congenital hypotrichosis with juvenile macular dystrophy ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011109 MONDO:0016648 True multiple epiphyseal dysplasia, Lowry type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011112 MONDO:0003321 True Wilms tumor 5 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011113 MONDO:0018995 True Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011114 MONDO:0011512 True familial multiple trichoepithelioma Brooke-Spiegler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011118 MONDO:0019460 True bilineal acute myeloid leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011119 MONDO:0019503 True iridogoniodysgenesis anterior segment dysgenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011121 MONDO:0000448 True paragangliomas 2 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011122 MONDO:0003916 True obesity disorder overnutrition SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011125 MONDO:0002470 True trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011128 MONDO:0019942 True Sheldon-hall syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011132 MONDO:0015974 True T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011133 MONDO:0019290 True deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011134 MONDO:0015338 True Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011136 MONDO:0020117 True Quebec platelet disorder alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011137 MONDO:0019200 True retinitis pigmentosa 19 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0015286 True Ehlers-Danlos syndrome, musculocontractural type congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0015327 True Ehlers-Danlos syndrome, musculocontractural type developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0019942 True Ehlers-Danlos syndrome, musculocontractural type distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011142 MONDO:0020066 True Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011143 MONDO:0015993 True cone-rod dystrophy 6 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011145 MONDO:0015159 True colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0016933 True tetrasomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0019716 True tetrasomy 12p overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011147 MONDO:0016880 True chromosome 18q deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011150 MONDO:0019303 True acroosteolysis-keloid-like lesions-premature aging syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011154 MONDO:0018237 True acrofacial dysostosis, Palagonia type acrofacial dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011156 MONDO:0015762 True progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011157 MONDO:0020022 True Gomez-Lopez-Hernandez syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011159 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011160 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 15 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011163 MONDO:0800188 True malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011164 MONDO:0800188 True malignant hyperthermia, susceptibility to, 6 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011165 MONDO:0007671 True glomerulopathy with fibronectin deposits 2 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011166 MONDO:0019175 True lymphedema-atrial septal defects-facial changes syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011169 MONDO:0019268 True keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011170 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011170 MONDO:0016192 True autosomal recessive limb-girdle muscular dystrophy type 2G qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011171 MONDO:0019287 True odonto-tricho-ungual-digito-palmar syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011173 MONDO:0019111 True thrombocythemia 2 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011175 MONDO:0100339 True Friedreich ataxia 2 Friedreich ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011177 MONDO:0019071 True ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0015427 True infantile convulsions and choreoathetosis paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0015642 True infantile convulsions and choreoathetosis benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011181 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 2 congenital fibrosis of extraocular muscles SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011183 MONDO:0005382 True Paget disease of bone 2, early-onset bone Paget disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011184 MONDO:0003847 True childhood apraxia of speech hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011184 MONDO:0016226 True childhood apraxia of speech specific language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011185 MONDO:0000764 True Thiel-Behnke corneal dystrophy epithelial-stromal TGFBI dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011185 MONDO:0020212 True Thiel-Behnke corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011186 MONDO:0010168 True Usher syndrome type 1F Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011188 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 3 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011189 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 4 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011190 MONDO:0019005 True nephronophthisis 2 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011192 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18A hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011193 MONDO:0015993 True cone dystrophy 3 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011195 MONDO:0010168 True Usher syndrome type 1E Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011198 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011200 MONDO:0000477 True torsion dystonia 7 focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011200 MONDO:0044807 True torsion dystonia 7 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011201 MONDO:0003233 True tremor, hereditary essential, 2 essential tremor SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011208 MONDO:0019293 True malignant atrophic papulosis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011211 MONDO:0016763 True axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011213 MONDO:0003847 True Pierpont syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011213 MONDO:0015159 True Pierpont syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011214 MONDO:0015762 True progressive familial intrahepatic cholestasis type 3 progressive familial intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011216 MONDO:0019257 True hemochromatosis type 2A hemochromatosis type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011217 MONDO:0019702 True desmosterolosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011218 MONDO:0017265 True autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011219 MONDO:0019287 True Fried's tooth and nail syndrome ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011223 MONDO:0005144 True amyotrophic lateral sclerosis type 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011224 MONDO:0020129 True monomelic amyotrophy acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011225 MONDO:0017855 True severe combined immunodeficiency due to DCLRE1C deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011225 MONDO:0031520 True severe combined immunodeficiency due to DCLRE1C deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011226 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011227 MONDO:0015161 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011227 MONDO:0018751 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011231 MONDO:0000032 True febrile seizures, familial, 2 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011232 MONDO:0000700 True migraine, familial hemiplegic, 2 familial hemiplegic migraine SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011233 MONDO:0019187 True Axenfeld-Rieger syndrome type 3 Axenfeld-Rieger syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011234 MONDO:0000107 True auriculocondylar syndrome 1 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011235 MONDO:0018234 True pelvic dysplasia-arthrogryposis of lower limbs syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011236 MONDO:0015624 True hyperinsulinism due to glucokinase deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011236 MONDO:0017688 True hyperinsulinism due to glucokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011243 MONDO:0015161 True grange syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0002254 True Marshall-Smith syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0018230 True Marshall-Smith syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011244 MONDO:0019716 True Marshall-Smith syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011246 MONDO:0018117 True megaconial type congenital muscular dystrophy disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011246 MONDO:0019950 True megaconial type congenital muscular dystrophy congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011248 MONDO:0016911 True distal monosomy 13q partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011253 MONDO:0015338 True craniomicromelic syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011255 MONDO:0015483 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011255 MONDO:0018234 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011257 MONDO:0017740 True MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011262 MONDO:0015161 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011262 MONDO:0018234 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011264 MONDO:0000476 True torsion dystonia 6 generalized dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011265 MONDO:0005486 True tooth agenesis, selective, 2 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011266 MONDO:0016107 True myotonic dystrophy type 2 myotonic dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011269 MONDO:0005083 True psoriasis 2 psoriasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011272 MONDO:0019200 True retinitis pigmentosa 25 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011273 MONDO:0019289 True H syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011274 MONDO:0015338 True Muenke syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011275 MONDO:0019696 True acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011276 MONDO:0000358 True orofacial cleft 2 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011279 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 17 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011281 MONDO:0018940 True congenital myasthenic syndrome 5 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011283 MONDO:0018158 True mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011284 MONDO:0004892 True astigmatism refractive error SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011285 MONDO:0005150 True age related macular degeneration 1 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 13 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011287 MONDO:0015338 True craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011291 MONDO:0017740 True ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011292 MONDO:0004980 True dermatitis, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011294 MONDO:0005090 True schizophrenia 5 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011295 MONDO:0005090 True schizophrenia 7 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011297 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 2 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011297 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011298 MONDO:0005090 True schizophrenia 8 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011299 MONDO:0005429 True Huntington disease-like 1 prion disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011299 MONDO:0024237 True Huntington disease-like 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011300 MONDO:0001384 True myopia 3, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011301 MONDO:0019992 True pseudohypoparathyroidism type 1B pseudohypoparathyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011303 MONDO:0005363 True focal segmental glomerulosclerosis 1 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011304 MONDO:0031037 True cerebral cavernous malformation 2 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011305 MONDO:0031037 True cerebral cavernous malformation 3 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011307 MONDO:0005090 True schizophrenia 2 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011308 MONDO:0003847 True GRACILE syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011309 MONDO:0003847 True familial gestational hyperthyroidism hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011309 MONDO:0004425 True familial gestational hyperthyroidism hyperthyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011313 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011325 MONDO:0019391 True Fanconi anemia complementation group F Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011327 MONDO:0024237 True neuronal intranuclear inclusion disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011330 MONDO:0019794 True spinocerebellar ataxia type 10 autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011331 MONDO:0002037 True congenital chylothorax pleural disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011331 MONDO:0017015 True congenital chylothorax primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011334 MONDO:0019287 True limb-mammary syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011335 MONDO:0000426 True spondyloepimetaphyseal dysplasia with multiple dislocations autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011335 MONDO:0019675 True spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal dysplasia with joint laxity SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011336 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 4 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011337 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011338 MONDO:0031520 True Omenn syndrome familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011342 MONDO:0005501 True SLC35A1-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011342 MONDO:0017749 True SLC35A1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011346 MONDO:0018106 True xanthinuria type II hereditary xanthinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011350 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011351 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 21 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011355 MONDO:0015993 True cone-rod dystrophy 7 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011359 MONDO:0016643 True acromelic frontonasal dysostosis frontonasal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011359 MONDO:0018237 True acromelic frontonasal dysostosis acrofacial dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011360 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 14 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011362 MONDO:0016106 True myopathy, myofibrillar, 9, with early respiratory failure progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011362 MONDO:0016112 True myopathy, myofibrillar, 9, with early respiratory failure hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011364 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 16 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011365 MONDO:0000734 True blepharophimosis - intellectual disability syndrome, SBBYS type Ohdo syndrome and variants SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011365 MONDO:0002254 True blepharophimosis - intellectual disability syndrome, SBBYS type syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011366 MONDO:0005040 True ovarian germ cell tumor germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011366 MONDO:0021068 True ovarian germ cell tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011369 MONDO:0005439 True hypercholesterolemia, autosomal dominant, 3 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011374 MONDO:0019052 True hypercholesterolemia, familial, 4 inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011377 MONDO:0019171 True long QT syndrome 3 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011381 MONDO:0019402 True dominant beta-thalassemia beta thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011382 MONDO:0006025 True sickle cell anemia autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011382 MONDO:0019050 True sickle cell anemia inherited hemoglobinopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011383 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011386 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 1 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011389 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011390 MONDO:0005363 True focal segmental glomerulosclerosis 2 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011391 MONDO:0019046 True megalencephalic leukoencephalopathy with subcortical cysts leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011392 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 20 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011393 MONDO:0019052 True hypoalphalipoproteinemia, primary, 1 inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011395 MONDO:0015993 True cone-rod dystrophy 3 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011396 MONDO:0017666 True loricrin keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011397 MONDO:0019792 True autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011398 MONDO:0006543 True dystrophic epidermolysis bullosa pruriginosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011399 MONDO:0000984 True alpha thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0011400 MONDO:0016333 True dilated cardiomyopathy 1G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0015159 True congenital cataracts-facial dysmorphism-neuropathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0020046 True congenital cataracts-facial dysmorphism-neuropathy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011403 MONDO:0018901 True left ventricular noncompaction 1 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011405 MONDO:0015134 True poikiloderma with neutropenia constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011405 MONDO:0016382 True poikiloderma with neutropenia hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011408 MONDO:0019064 True hereditary spastic paraplegia 10 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011412 MONDO:0020074 True familial encephalopathy with neuroserpin inclusion bodies progressive myoclonus epilepsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011413 MONDO:0005129 True cataract 9 multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011414 MONDO:0000942 True Peters anomaly corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011414 MONDO:0019503 True Peters anomaly anterior segment dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011415 MONDO:0018998 True Leber congenital amaurosis 3 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011416 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011417 MONDO:0006507 True hemochromatosis type 3 hereditary hemochromatosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011420 MONDO:0015892 True short stature due to partial GHR deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011421 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011422 MONDO:0008369 True autosomal recessive proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011422 MONDO:0015962 True autosomal recessive proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0016142 True autosomal recessive limb-girdle muscular dystrophy type 2E qualitative or quantitative defects of beta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011423 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011424 MONDO:0015079 True Carney triad multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011425 MONDO:0016333 True dilated cardiomyopathy 1H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0016624 True aceruloplasminemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0017763 True aceruloplasminemia disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0018307 True aceruloplasminemia neurodegeneration with brain iron accumulation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0019118 True aceruloplasminemia inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011428 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011429 MONDO:0005578 True juvenile idiopathic arthritis arthritic joint disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011430 MONDO:0011060 True pulverulent cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011432 MONDO:0017393 True blepharophimosis - intellectual disability syndrome, Verloes type blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011435 MONDO:0016660 True microcephaly 2, primary, autosomal recessive, with or without cortical malformations autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011436 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 1 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011436 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 1 neuronopathy, distal hereditary motor, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011437 MONDO:0016660 True microcephaly 4, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011438 MONDO:0006607 True acne sebaceous gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011439 MONDO:0019792 True spinocerebellar ataxia type 12 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011441 MONDO:0019369 True complex regional pain syndrome type 1 complex regional pain syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011442 MONDO:0015609 True advanced sleep phase syndrome 1 advanced sleep phase syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011443 MONDO:0000032 True febrile seizures, familial, 4 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011444 MONDO:0007473 True Duane retraction syndrome 2 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011448 MONDO:0020088 True PPARG-related familial partial lipodystrophy familial partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011449 MONDO:0019366 True Salla disease free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011450 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011451 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011452 MONDO:0003037 True hypotrichosis 7 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011454 MONDO:0016432 True patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011456 MONDO:0019005 True nephronophthisis 3 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011458 MONDO:0018998 True Leber congenital amaurosis 4 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011459 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 5 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011460 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 6 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011461 MONDO:0000032 True generalized epilepsy with febrile seizures plus, type 2 febrile seizures, familial UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011461 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011462 MONDO:0019751 True pyogenic arthritis-pyoderma gangrenosum-acne syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011464 MONDO:0019793 True spinocerebellar ataxia type 11 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011465 MONDO:0005341 True infundibulocystic basal cell carcinoma skin basal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011466 MONDO:0016108 True distal myopathy, Welander type autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011468 MONDO:0020127 True hereditary motor and sensory neuropathy, Okinawa type hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011471 MONDO:0005265 True inflammatory bowel disease 3 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011472 MONDO:0019287 True epidermolysis bullosa simplex due to plakophilin deficiency ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011473 MONDO:0018998 True Leber congenital amaurosis 5 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011474 MONDO:0019490 True progressive familial heart block type IB progressive familial heart block SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011475 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011476 MONDO:0015131 True MHC class I deficiency combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011477 MONDO:0005486 True tooth agenesis, selective, 3 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011479 MONDO:0000992 True postural orthostatic tachycardia syndrome heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011480 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011481 MONDO:0015338 True craniosynostosis 2 syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011482 MONDO:0016333 True dilated cardiomyopathy 1I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011484 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011485 MONDO:0017265 True autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011486 MONDO:0019950 True congenital muscular dystrophy 1B congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011487 MONDO:0015548 True Huntington disease-like 3 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011489 MONDO:0015149 True hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011496 MONDO:0022800 True mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011497 MONDO:0015762 True hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011500 MONDO:0019755 True Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011502 MONDO:0003847 True Wolfram syndrome 2 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011502 MONDO:0018105 True Wolfram syndrome 2 Wolfram syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011503 MONDO:0000193 True cortisone reductase deficiency 1 cortisone reductase deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011505 MONDO:0017774 True familial hypobetalipoproteinemia 2 hypobetalipoproteinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011510 MONDO:0015159 True Bohring-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011512 MONDO:0000426 True Brooke-Spiegler syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011514 MONDO:0020289 True tricuspid atresia congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011518 MONDO:0015159 True Wiedemann-Steiner syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011524 MONDO:0016537 True Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011527 MONDO:0018995 True Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011527 MONDO:0033352 True Charcot-Marie-Tooth disease type 4E neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011528 MONDO:0006025 True hyper-IgM syndrome type 2 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011529 MONDO:0019792 True spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011530 MONDO:0018230 True mesomelic dysplasia, Savarirayan type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011531 MONDO:0018997 True Noonan syndrome 2 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011532 MONDO:0019064 True hereditary spastic paraplegia 13 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0002254 True temtamy preaxial brachydactyly syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0006025 True temtamy preaxial brachydactyly syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0015286 True temtamy preaxial brachydactyly syndrome congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0015327 True temtamy preaxial brachydactyly syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011533 MONDO:0019054 True temtamy preaxial brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011534 MONDO:0018995 True Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011535 MONDO:0016576 True split hand-foot malformation 4 split hand-foot malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011536 MONDO:0043878 True optic atrophy 4 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011537 MONDO:0000426 True macrocephaly-autism syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011539 MONDO:0018958 True nemaline myopathy 5 nemaline myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011540 MONDO:0019792 True spinocerebellar ataxia type 14 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011541 MONDO:0016333 True dilated cardiomyopathy 1J familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011544 MONDO:0000448 True paragangliomas 3 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011545 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 3 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011545 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011546 MONDO:0018677 True heterotaxy, visceral, 2, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011549 MONDO:0003037 True hypotrichosis 1 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011551 MONDO:0016812 True TH-deficient dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011551 MONDO:0017307 True TH-deficient dopa-responsive dystonia disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011552 MONDO:0005090 True schizophrenia 10 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011553 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 26 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0018234 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0018795 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011555 MONDO:0019054 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011558 MONDO:0016484 True Usher syndrome type 2C Usher syndrome type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011559 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011562 MONDO:0008199 True autosomal dominant Parkinson disease 4 late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011563 MONDO:0016070 True fibromatosis, gingival, 2 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011564 MONDO:0015993 True cone-rod dystrophy 8 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011565 MONDO:0000816 True metabolic syndrome X abdominal obesity-metabolic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011566 MONDO:0000816 True abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011567 MONDO:0016333 True dilated cardiomyopathy 1K familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011568 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011569 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011569 MONDO:0021106 True Charcot-Marie-Tooth disease type 2B1 laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011570 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011575 MONDO:0015159 True cerebrooculonasal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011576 MONDO:0016525 True familial hyperaldosteronism type II familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011577 MONDO:0019952 True myopathy, proximal, and ophthalmoplegia congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011578 MONDO:0017896 True familial papillary thyroid carcinoma with renal papillary neoplasia familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011579 MONDO:0019118 True late-onset retinal degeneration inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011581 MONDO:0019287 True arrhythmogenic cardiomyopathy with wooly hair and keratoderma ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011582 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 1 fatal multiple mitochondrial dysfunctions syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011583 MONDO:0005620 True cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011584 MONDO:0019391 True Fanconi anemia complementation group D1 Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011585 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 2 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011585 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 2 neuronopathy, distal hereditary motor, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011586 MONDO:0005349 True otosclerosis 2 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011588 MONDO:0000009 True platelet-type bleeding disorder 12 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011589 MONDO:0000170 True microphthalmia with coloboma 2 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011599 MONDO:0006918 True birdshot chorioretinopathy posterior uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011601 MONDO:0016602 True neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0016112 True GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0017749 True GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0018795 True GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011612 MONDO:0004736 True glycine encephalopathy inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011612 MONDO:0019239 True glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011613 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011614 MONDO:0017713 True 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011616 MONDO:0016296 True holoprosencephaly 6 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011620 MONDO:0018230 True metaphyseal dysplasia, Braun-Tinschert type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011621 MONDO:0019054 True acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011624 MONDO:0019231 True transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011627 MONDO:0020836 True autism, susceptibility to, 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011628 MONDO:0019215 True propionic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011629 MONDO:0017740 True MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011630 MONDO:0019200 True retinitis pigmentosa 28 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011631 MONDO:0006507 True hemochromatosis type 4 hereditary hemochromatosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011632 MONDO:0005144 True amyotrophic lateral sclerosis type 21 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011633 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011635 MONDO:0000334 True goiter, multinodular 3 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011636 MONDO:0015253 True Diamond-Blackfan anemia 2 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0015548 True neuroferritinopathy Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0017763 True neuroferritinopathy disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011638 MONDO:0018307 True neuroferritinopathy neurodegeneration with brain iron accumulation SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011639 MONDO:0015253 True Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011640 MONDO:0015159 True genitopatellar syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011640 MONDO:0018234 True genitopatellar syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011644 MONDO:0004674 True pars planitis chorioretinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011652 MONDO:0003847 True Phelan-McDermid syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011652 MONDO:0022760 True Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011658 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 7 young-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011659 MONDO:0018677 True heterotaxy, visceral, 3, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011660 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011661 MONDO:0005265 True inflammatory bowel disease 5 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011662 MONDO:0001162 True pathological gambling impulse control disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011664 MONDO:0021094 True immunodeficiency due to CD25 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011667 MONDO:0018911 True maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011668 MONDO:0018911 True maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0002254 True hypotonia-cystinuria syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0016884 True hypotonia-cystinuria syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0019216 True hypotonia-cystinuria syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011670 MONDO:0020066 True Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011671 MONDO:0016987 True Huntington disease-like 2 neuroacanthocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011672 MONDO:0015757 True persistent polyclonal B-cell lymphocytosis lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011673 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011674 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011675 MONDO:0019548 True Charcot-Marie-Tooth Disease, axonal, type 2GG autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011676 MONDO:0020022 True PHACE syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011681 MONDO:0016227 True episodic ataxia type 4 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011682 MONDO:0016227 True episodic ataxia type 3 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011683 MONDO:0018910 True oculocutaneous albinism type 4 oculocutaneous albinism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011687 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011688 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011691 MONDO:0005144 True amyotrophic lateral sclerosis type 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011694 MONDO:0019792 True spinocerebellar ataxia type 15/16 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011698 MONDO:0000351 True glycine N-methyltransferase deficiency disorder of methionine catabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011699 MONDO:0005265 True inflammatory bowel disease 8 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011700 MONDO:0005265 True inflammatory bowel disease 6 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011701 MONDO:0005265 True inflammatory bowel disease 4 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011702 MONDO:0016333 True dilated cardiomyopathy 1L familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011705 MONDO:0006359 True lymphangioleiomyomatosis neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011706 MONDO:0018307 True Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011711 MONDO:0000724 True specific language impairment 2 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011716 MONDO:0019383 True acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011717 MONDO:0015624 True hyperinsulinism-hyperammonemia syndrome diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011718 MONDO:0016575 True primary ciliary dyskinesia 2 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011719 MONDO:0018506 True gastrointestinal stromal tumor mesenchymal tumor of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011721 MONDO:0016145 True distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011722 MONDO:0015159 True intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011725 MONDO:0009044 True Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011728 MONDO:0000477 True benign essential blepharospasm focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011730 MONDO:0016790 True fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011730 MONDO:0020127 True fumaric aciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011731 MONDO:0019226 True glucose-galactose malabsorption glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011732 MONDO:0018240 True familial digital arthropathy-brachydactyly TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011732 MONDO:0019054 True familial digital arthropathy-brachydactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011738 MONDO:0003847 True bilateral frontoparietal polymicrogyria hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011738 MONDO:0017091 True bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011740 MONDO:0015079 True Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011744 MONDO:0016223 True primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011748 MONDO:0010168 True Usher syndrome type 1G Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011755 MONDO:0017842 True senior-loken syndrome 3 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011756 MONDO:0017842 True Senior-Loken syndrome 4 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011757 MONDO:0021004 True brachydactyly type A1B brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0001586 True Hurler syndrome mucopolysaccharidosis type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0016340 True Hurler syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0800088 True Hurler syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011759 MONDO:0001586 True Hurler-Scheie syndrome mucopolysaccharidosis type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011759 MONDO:0800088 True Hurler-Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011760 MONDO:0001586 True Scheie syndrome mucopolysaccharidosis type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011760 MONDO:0800088 True Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011761 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011762 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 22 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011764 MONDO:0008199 True autosomal dominant Parkinson disease 8 late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011765 MONDO:0016648 True multiple epiphyseal dysplasia type 5 multiple epiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011766 MONDO:0020040 True 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011767 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 31 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011770 MONDO:0019625 True aortic aneurysm, familial thoracic 2 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011771 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 3 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011771 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 3 neuronopathy, distal hereditary motor, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0005501 True B4GALT1-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0015327 True B4GALT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0017749 True B4GALT1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0020022 True B4GALT1-congenital disorder of glycosylation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011774 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 30 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011776 MONDO:0016168 True CINCA syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011778 MONDO:0016648 True multiple epiphyseal dysplasia, Al-Gazali type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011780 MONDO:0000724 True specific language impairment 3 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011781 MONDO:0015548 True spinocerebellar ataxia type 17 Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011781 MONDO:0019792 True spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011782 MONDO:0005283 True angioid streaks retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011783 MONDO:0005500 True ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011783 MONDO:0017740 True ALG12-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011784 MONDO:0016820 True Moyamoya disease 2 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011785 MONDO:0015149 True hereditary spastic paraplegia 19 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011786 MONDO:0000771 True allergic rhinitis allergic respiratory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011786 MONDO:0003014 True allergic rhinitis rhinitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011787 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011787 MONDO:0016156 True autosomal recessive limb-girdle muscular dystrophy type 2I qualitative or quantitative defects of FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011788 MONDO:0015338 True cloverleaf skull-multiple congenital anomalies syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011789 MONDO:0016642 True familial meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011790 MONDO:0000152 True Amish lethal microcephaly thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011792 MONDO:0010132 True thyroid dyshormonogenesis 6 familial thyroid dyshormonogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011795 MONDO:0015161 True anonychia-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011799 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 33 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011800 MONDO:0100242 True glioma susceptibility 4 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011801 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011801 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0016387 True hereditary spastic paraplegia 7 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0019064 True hereditary spastic paraplegia 7 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011803 MONDO:0100309 True hereditary spastic paraplegia 7 hereditary ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011804 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011806 MONDO:0018230 True osteofibrous dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011811 MONDO:0020047 True autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0000426 True Duane-radial ray syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0002254 True Duane-radial ray syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0018234 True Duane-radial ray syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0019054 True Duane-radial ray syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011814 MONDO:0015799 True Smith-McCort dysplasia 1 Smith-McCort dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011818 MONDO:0019009 True isolated focal cortical dysplasia type II isolated focal cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011819 MONDO:0019792 True spinocerebellar ataxia type 19/22 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011823 MONDO:0015161 True developmental malformations-deafness-dystonia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011823 MONDO:0044807 True developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011824 MONDO:0020836 True autism, susceptibility to, 8 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011827 MONDO:0005453 True patent ductus arteriosus congenital heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011829 MONDO:0018151 True coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011830 MONDO:0015146 True lissencephaly due to LIS1 mutation classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011831 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 8 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011832 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011833 MONDO:0019792 True spinocerebellar ataxia type 21 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011834 MONDO:0019792 True spinocerebellar ataxia type 18 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0009637 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis inborn mitochondrial myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0016798 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia neuropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0020127 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011836 MONDO:0005034 True thyroid Hurthle cell carcinoma thyroid gland follicular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011837 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 2 congenital vitamin K-dependent coagulation factors deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011839 MONDO:0015993 True Newfoundland cone-rod dystrophy cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011840 MONDO:0016333 True dilated cardiomyopathy 1M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011841 MONDO:0000152 True biotin-responsive basal ganglia disease thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011841 MONDO:0003996 True biotin-responsive basal ganglia disease basal ganglia disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011842 MONDO:0017276 True GRN-related frontotemporal lobar degeneration with Tdp43 inclusions frontotemporal dementia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011843 MONDO:0024573 True hypertrophic cardiomyopathy 25 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011844 MONDO:0000903 True myoclonic dystonia 15 myoclonus-dystonia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011845 MONDO:0100246 True migraine with or without aura, susceptibility to, 3 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011847 MONDO:0100246 True migraine without aura, susceptibility to, 4 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011850 MONDO:0100246 True migraine with or without aura, susceptibility to, 5 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011851 MONDO:0100246 True migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011852 MONDO:0019284 True nonsyndromic congenital nail disorder 8 inherited isolated nail anomaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011855 MONDO:0000764 True granular corneal dystrophy type II epithelial-stromal TGFBI dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011855 MONDO:0020213 True granular corneal dystrophy type II stromal corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011856 MONDO:0016763 True spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011857 MONDO:0018054 True atrial fibrillation, familial, 3 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011864 MONDO:0015517 True immunodeficiency, common variable, 1 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011866 MONDO:0016396 True pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011868 MONDO:0015161 True lethal congenital contracture syndrome 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011871 MONDO:0017014 True Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011871 MONDO:0020127 True Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015134 True Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015541 True Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011874 MONDO:0015947 True neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011874 MONDO:0018646 True neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011876 MONDO:0015653 True juvenile absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011877 MONDO:0020645 True autosomal dominant osteopetrosis 1 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011880 MONDO:0015279 True candidiasis, familial, 3 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011881 MONDO:0018865 True keratosis palmoplantaris striata 3 striate palmoplantar keratoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011882 MONDO:0017666 True skin fragility-woolly hair-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011883 MONDO:0017666 True Curly hair - acral keratoderma - caries syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011883 MONDO:0019287 True Curly hair - acral keratoderma - caries syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011884 MONDO:0017672 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011884 MONDO:0019287 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011886 MONDO:0015990 True torsion dystonia 13 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011888 MONDO:0015979 True immunodeficiency 67 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011888 MONDO:0021094 True immunodeficiency 67 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011889 MONDO:0018993 True Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011890 MONDO:0019011 True Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011891 MONDO:0010826 True febrile seizures, familial, 8 childhood absence epilepsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011891 MONDO:0018214 True febrile seizures, familial, 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011894 MONDO:0018993 True Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011895 MONDO:0015691 True idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011899 MONDO:0020297 True Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011901 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011902 MONDO:0019011 True Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011903 MONDO:0018993 True Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011904 MONDO:0017615 True seizures, benign familial infantile, 3 benign familial infantile epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011906 MONDO:0018841 True congenital bile acid synthesis defect 1 congenital bile acid synthesis defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011907 MONDO:0005516 True acrocapitofemoral dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011907 MONDO:0019695 True acrocapitofemoral dysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011909 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011911 MONDO:0003847 True craniolenticulosutural dysplasia hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011911 MONDO:0015161 True craniolenticulosutural dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 37 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011915 MONDO:0008004 True mitral valve prolapse, myxomatous 2 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011916 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011920 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011924 MONDO:0031240 True panic disorder 2 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011925 MONDO:0019950 True congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011927 MONDO:0003110 True tufted angioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011929 MONDO:0016883 True chromosome 1p36 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011930 MONDO:0000160 True epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011932 MONDO:0003037 True hypotrichosis 6 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011933 MONDO:0005500 True ALG2-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011933 MONDO:0017740 True ALG2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011934 MONDO:0005164 True dermatofibrosarcoma protuberans fibrosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011935 MONDO:0019200 True retinitis pigmentosa 30 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011936 MONDO:0016073 True microphthalmia with brain and digit anomalies syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011937 MONDO:0019347 True peeling skin syndrome 4 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011938 MONDO:0006664 True atrial septal defect 2 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011939 MONDO:0016763 True Spondyloenchondrodysplasia with immune dysregulation spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011945 MONDO:0018150 True Gaucher disease perinatal lethal Gaucher disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011946 MONDO:0019694 True diaphanospondylodysostosis spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011948 MONDO:0020135 True pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011950 MONDO:0015244 True infantile-onset autosomal recessive nonprogressive cerebellar ataxia autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011951 MONDO:0005144 True amyotrophic lateral sclerosis type 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011956 MONDO:0020836 True autism, susceptibility to, 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011962 MONDO:0021251 True endometrial cancer endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011963 MONDO:0018772 True Joubert syndrome 2 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011964 MONDO:0005500 True DPAGT1-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011964 MONDO:0017740 True DPAGT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011965 MONDO:0005115 True familial temporal lobe epilepsy 2 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011966 MONDO:0020341 True periventricular heterotopia with microcephaly, autosomal recessive periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011967 MONDO:0020341 True heterotopia, periventricular, associated with chromosome 5P anomalies periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0016141 True autosomal recessive limb-girdle muscular dystrophy type 2D qualitative or quantitative defects of alpha-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011968 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011969 MONDO:0005500 True ALG8-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011969 MONDO:0017740 True ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011970 MONDO:0020072 True rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011971 MONDO:0003947 True hyper-IgM syndrome type 5 hyper-IgM syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011972 MONDO:0005558 True ovarian hyperstimulation syndrome ovarian disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011974 MONDO:0019200 True retinitis pigmentosa 7 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011975 MONDO:0016779 True paternal uniparental disomy of chromosome 14 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011976 MONDO:0020087 True lipodystrophy-intellectual disability-deafness syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011977 MONDO:0015161 True 8q22.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011977 MONDO:0016907 True 8q22.1 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011985 MONDO:0003947 True hyper-IgM syndrome type 4 hyper-IgM syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011987 MONDO:0015993 True cone-rod dystrophy 13 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011988 MONDO:0015978 True neutrophil immunodeficiency syndrome functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011989 MONDO:0002428 True leishmaniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0011990 MONDO:0016027 True seizures, benign familial neonatal, 3 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011991 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 38 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011992 MONDO:0015150 True hereditary spastic paraplegia 25 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011994 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011996 MONDO:0004643 True chronic myelogenous leukemia, BCR-ABL1 positive myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0015134 True Hermansky-Pudlak syndrome 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0015541 True Hermansky-Pudlak syndrome 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011997 MONDO:0019312 True Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011999 MONDO:0005349 True otosclerosis 3 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012000 MONDO:0003699 True specific phobia phobic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012002 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 40 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012003 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 39 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012004 MONDO:0004970 True parathyroid gland carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012004 MONDO:0021311 True parathyroid gland carcinoma malignant tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012008 MONDO:0019287 True Lelis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012012 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012013 MONDO:0018096 True Weill-Marchesani syndrome 2, dominant Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012014 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012015 MONDO:0005712 True nystagmus 3, congenital, autosomal dominant congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012016 MONDO:0016231 True capillary malformation-arteriovenous malformation syndrome capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012019 MONDO:0016761 True spondyloepiphyseal dysplasia, Kimberley type spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012020 MONDO:0016972 True chromosome 22q11.2 microduplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012021 MONDO:0001384 True myopia 17, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012032 MONDO:0015161 True Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012033 MONDO:0003847 True bradyopsia hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012033 MONDO:0005283 True bradyopsia retinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012034 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012035 MONDO:0015338 True craniosynostosis-intracranial calcifications syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012037 MONDO:0019502 True intellectual disability, autosomal recessive 3 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012040 MONDO:0005265 True inflammatory bowel disease 9 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012041 MONDO:0006025 True familial adenomatous polyposis 2 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012041 MONDO:0016362 True familial adenomatous polyposis 2 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012041 MONDO:0021055 True familial adenomatous polyposis 2 classic familial adenomatous polyposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012043 MONDO:0000764 True Reis-Bucklers corneal dystrophy epithelial-stromal TGFBI dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012043 MONDO:0020212 True Reis-Bucklers corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012045 MONDO:0001384 True myopia 5, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012048 MONDO:0002009 True endogenous depression major depressive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012049 MONDO:0015375 True orofaciodigital syndrome VII orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012052 MONDO:0005500 True ALG1-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012052 MONDO:0017740 True ALG1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012053 MONDO:0016483 True aneurysm, intracranial berry, 2 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012054 MONDO:0005090 True schizophrenia 12 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012055 MONDO:0018230 True Larsen-like osseous dysplasia-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012056 MONDO:0018998 True Leber congenital amaurosis 9 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012060 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 35 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012062 MONDO:0016333 True dilated cardiomyopathy 1O familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012063 MONDO:0019054 True ulnar/fibula ray defect-brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012064 MONDO:0015161 True choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012066 MONDO:0018054 True atrial fibrillation, familial, 1 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012069 MONDO:0015486 True keratoconus 3 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012071 MONDO:0006536 True congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012072 MONDO:0020088 True familial partial lipodystrophy, Kobberling type familial partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012073 MONDO:0019046 True ribose-5-P isomerase deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012073 MONDO:0019231 True ribose-5-P isomerase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012074 MONDO:0016584 True mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012077 MONDO:0005144 True amyotrophic lateral sclerosis type 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012078 MONDO:0018772 True Joubert syndrome 3 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012079 MONDO:0100440 True asperger syndrome, susceptibility to, 2 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012081 MONDO:0016965 True 15q11q13 microduplication syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012082 MONDO:0100440 True asperger syndrome, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012083 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012084 MONDO:0017759 True aromatic L-amino acid decarboxylase deficiency disorder of catecholamine synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012085 MONDO:0016575 True primary ciliary dyskinesia 3 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012086 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012087 MONDO:0016575 True primary ciliary dyskinesia 4 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012088 MONDO:0016575 True primary ciliary dyskinesia 5 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0015159 True intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0018234 True intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0019054 True intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012096 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012098 MONDO:0019792 True spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012099 MONDO:0019236 True AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012103 MONDO:0019792 True spinocerebellar ataxia type 25 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012104 MONDO:0020089 True acquired partial lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0005046 True granulomatosis with polyangiitis immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0015492 True granulomatosis with polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012106 MONDO:0016660 True microcephaly 5, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012110 MONDO:0015892 True growth delay due to insulin-like growth factor type 1 deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012111 MONDO:0024573 True hypertrophic cardiomyopathy 8 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012112 MONDO:0024573 True hypertrophic cardiomyopathy 10 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012116 MONDO:0019792 True spinocerebellar ataxia type 8 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012117 MONDO:0005500 True ALG9-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012117 MONDO:0017740 True ALG9-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0005501 True COG7-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0015327 True COG7-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012118 MONDO:0017750 True COG7-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012119 MONDO:0100440 True asperger syndrome, susceptibility to, 3 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012120 MONDO:0019169 True pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012121 MONDO:0005349 True otosclerosis 5 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012122 MONDO:0016820 True moyamoya disease 3 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012123 MONDO:0005500 True congenital disorder of glycosylation type 1E congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012123 MONDO:0017749 True congenital disorder of glycosylation type 1E disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012124 MONDO:0020040 True sudden infant death-dysgenesis of the testes syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012125 MONDO:0017226 True hypomyelinating leukodystrophy 2 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012126 MONDO:0018379 True familial avascular necrosis of femoral head primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012126 MONDO:0018383 True familial avascular necrosis of femoral head osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012127 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012130 MONDO:0016108 True myofibrillar myopathy 2 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012135 MONDO:0100170 True restless legs syndrome, susceptibility to, 2 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012136 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, neonatal form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012137 MONDO:0016432 True Carney complex - trismus - pseudocamptodactyly syndrome heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012138 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012139 MONDO:0031166 True macular dystrophy, retinal, 3 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012143 MONDO:0020102 True hereditary cryohydrocytosis with reduced stomatin hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012145 MONDO:0005150 True macular degeneration, age-related, 3 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012146 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 3 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012154 MONDO:0001384 True myopia 6 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012155 MONDO:0002232 True choanal atresia nasal cavity disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012158 MONDO:0015486 True keratoconus 2 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012160 MONDO:0016763 True spondylometaphyseal dysplasia-cone-rod dystrophy syndrome spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012162 MONDO:0020381 True patterned macular dystrophy 2 patterned macular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012163 MONDO:0031520 True immunodeficiency 104 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012164 MONDO:0020040 True Meacham syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0015161 True BNAR syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0018751 True BNAR syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012166 MONDO:0100309 True autosomal dominant sensory ataxia 1 hereditary ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012167 MONDO:0018054 True atrial fibrillation, familial, 2 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012169 MONDO:0019852 True premature ovarian failure 3 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012170 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 36 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012172 MONDO:0002525 True mitochondrial trifunctional protein deficiency inherited lipid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012172 MONDO:0009637 True mitochondrial trifunctional protein deficiency inborn mitochondrial myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012173 MONDO:0017713 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012173 MONDO:0020127 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012175 MONDO:0005129 True cataract 28 cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012180 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 9 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012183 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012184 MONDO:0006025 True Pierson syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012185 MONDO:0016763 True spondylometaphyseal dysplasia, A4 type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012186 MONDO:0019391 True Fanconi anemia complementation group I Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012187 MONDO:0019391 True Fanconi anemia complementation group J Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012190 MONDO:0017610 True epidermolysis bullosa simplex 7, with nephropathy and deafness epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012191 MONDO:0000732 True hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012192 MONDO:0016391 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012192 MONDO:0020022 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012193 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy, limb-girdle, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012194 MONDO:0016483 True aneurysm, intracranial berry, 3 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012195 MONDO:0019942 True arthrogryposis-severe scoliosis syndrome distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012196 MONDO:0019587 True autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012196 MONDO:0021944 True autosomal dominant auditory neuropathy 1 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012197 MONDO:0015610 True idiopathic aplastic anemia acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012198 MONDO:0000426 True PCWH syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012198 MONDO:0002254 True PCWH syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012199 MONDO:0020364 True posterior polymorphous corneal dystrophy 2 posterior polymorphous corneal dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012200 MONDO:0020364 True posterior polymorphous corneal dystrophy 3 posterior polymorphous corneal dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012203 MONDO:0003847 True familial hyperthyroidism due to mutations in TSH receptor hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012203 MONDO:0004425 True familial hyperthyroidism due to mutations in TSH receptor hyperthyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012204 MONDO:0020102 True familial pseudohyperkalemia hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012205 MONDO:0000211 True autosomal dominant striatal neurodegeneration type 1 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012206 MONDO:0022800 True Czech dysplasia, metatarsal type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012208 MONDO:0015947 True congenital reticular ichthyosiform erythroderma inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012210 MONDO:0100246 True migraine with aura, susceptibility to, 7 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012211 MONDO:0005500 True MPDU1-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012211 MONDO:0017749 True MPDU1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012212 MONDO:0018954 True Loeys-Dietz syndrome 1 Loeys-Dietz syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012213 MONDO:0015150 True hereditary spastic paraplegia 26 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012214 MONDO:0008733 True glucocorticoid deficiency 3 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0016108 True myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012216 MONDO:0044203 True foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012219 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012221 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012222 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 2 alpha-N-acetylgalactosaminidase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012224 MONDO:0000032 True febrile seizures, familial, 6 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012225 MONDO:0017842 True Senior-Loken syndrome 5 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012226 MONDO:0000032 True febrile seizures, familial, 5 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012227 MONDO:0001384 True myopia 7 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012228 MONDO:0001384 True myopia 8 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012229 MONDO:0001384 True myopia 9 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012230 MONDO:0001384 True myopia 10 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012231 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012232 MONDO:0000723 True stuttering, familial persistent, 2 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012235 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 7 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012236 MONDO:0015486 True keratoconus 4 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012245 MONDO:0100062 True developmental and epileptic encephalopathy, 3 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012246 MONDO:0019793 True spinocerebellar ataxia type 26 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012247 MONDO:0019792 True spinocerebellar ataxia type 27 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012248 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2K muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012248 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012248 MONDO:0016184 True autosomal recessive limb-girdle muscular dystrophy type 2K qualitative or quantitative defects of protein O-mannosyltransferase 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012249 MONDO:0000426 True Lynch syndrome 2 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012249 MONDO:0018630 True Lynch syndrome 2 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012250 MONDO:0018995 True Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012251 MONDO:0002254 True MEDNIK syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012251 MONDO:0017762 True MEDNIK syndrome disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012251 MONDO:0019270 True MEDNIK syndrome erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012252 MONDO:0016473 True rhabdoid tumor predisposition syndrome 1 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012253 MONDO:0016648 True multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012254 MONDO:0016648 True multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012256 MONDO:0015149 True hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012261 MONDO:0020836 True autism, susceptibility to, 6 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012264 MONDO:0005081 True preeclampsia/eclampsia 2 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012265 MONDO:0005081 True preeclampsia/eclampsia 3 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012266 MONDO:0005081 True preeclampsia/eclampsia 4 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012267 MONDO:0016296 True holoprosencephaly 8 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012268 MONDO:0005109 True AIDS HIV infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012269 MONDO:0016902 True chromosome 3q29 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012270 MONDO:0007614 True Tukel syndrome congenital fibrosis of extraocular muscles SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012271 MONDO:0019530 True mesoaxial synostotic syndactyly with phalangeal reduction non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012273 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 48 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012274 MONDO:0019696 True acromesomelic dysplasia 3 acromesomelic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012275 MONDO:0002254 True fetal valproate syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012275 MONDO:0016677 True fetal valproate syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012276 MONDO:0017704 True generalized epilepsy-paroxysmal dyskinesia syndrome familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0016108 True myofibrillar myopathy 4 autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0016190 True myofibrillar myopathy 4 qualitative or quantitative defects of protein ZASP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0018943 True myofibrillar myopathy 4 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012280 MONDO:0002254 True Goldberg-Shprintzen megacolon syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012280 MONDO:0003847 True Goldberg-Shprintzen megacolon syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012280 MONDO:0015159 True Goldberg-Shprintzen megacolon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012285 MONDO:0018901 True left ventricular noncompaction 2 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012289 MONDO:0016189 True myofibrillar myopathy 5 qualitative or quantitative defects of filamin C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012289 MONDO:0018943 True myofibrillar myopathy 5 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012290 MONDO:0002254 True CEDNIK syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012290 MONDO:0017666 True CEDNIK syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012293 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 23 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012297 MONDO:0015150 True SPOAN syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012299 MONDO:0005514 True nanophthalmos 2 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012301 MONDO:0018158 True mitochondrial DNA depletion syndrome, myopathic form mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012301 MONDO:0019238 True mitochondrial DNA depletion syndrome, myopathic form inborn disorder of pyrimidine metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012302 MONDO:0018953 True parietal foramina 3 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012303 MONDO:0100246 True migraine with or without aura, susceptibility to, 8 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012304 MONDO:0015643 True photoparoxysmal response 2 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012305 MONDO:0015643 True photoparoxysmal response 3 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012306 MONDO:0016340 True cardiomyopathy, familial restrictive, 2 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012307 MONDO:0015704 True familial scaphocephaly syndrome, McGillivray type familial scaphocephaly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012308 MONDO:0018772 True Joubert syndrome with renal defect Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012309 MONDO:0018953 True parietal foramina 2 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012312 MONDO:0000453 True short QT syndrome type 1 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012313 MONDO:0000453 True short QT syndrome type 2 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012314 MONDO:0000453 True short QT syndrome type 3 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012315 MONDO:0016909 True distal 10q deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0005570 True Majeed syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0019751 True Majeed syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012320 MONDO:0000700 True migraine, familial hemiplegic, 3 familial hemiplegic migraine SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012324 MONDO:0015161 True Frias syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012324 MONDO:0016912 True Frias syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012326 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 42 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012327 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 46 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012330 MONDO:0019707 True talo-patello-scaphoid osteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012331 MONDO:0100246 True migraine with aura, susceptibility to, 9 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012333 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 53 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012334 MONDO:0015087 True hereditary spastic paraplegia 29 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012335 MONDO:0019182 True obesity due to pro-opiomelanocortin deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012342 MONDO:0003847 True 7q11.23 microduplication syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012342 MONDO:0016958 True 7q11.23 microduplication syndrome partial duplication of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012343 MONDO:0007031 True aortic aneurysm, familial abdominal, 2 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012345 MONDO:0019347 True acral peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012346 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012348 MONDO:0018911 True maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012351 MONDO:0008512 True zygodactyly type 1 syndactyly type 1 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012353 MONDO:0001115 True erythrocytosis, familial, 3 familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012354 MONDO:0000009 True platelet-type bleeding disorder 8 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012354 MONDO:0021181 True platelet-type bleeding disorder 8 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012355 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 28 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012360 MONDO:0000045 True congenital nongoitrous hypothryoidism 3 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012362 MONDO:0016333 True dilated cardiomyopathy 1P familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012363 MONDO:0019200 True retinitis pigmentosa 32 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012364 MONDO:0016333 True dilated cardiomyopathy 1Q familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012365 MONDO:0700225 True gallbladder disease 2 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012366 MONDO:0700225 True gallbladder disease 3 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012367 MONDO:0019200 True retinitis pigmentosa 31 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012368 MONDO:0017686 True aminoacylase 1 deficiency inborn aminoacylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012370 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 51 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012371 MONDO:0018997 True Noonan syndrome 3 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012375 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 47 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012376 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 55 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012377 MONDO:0100440 True asperger syndrome, susceptibility to, 4 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012378 MONDO:0016070 True fibromatosis, gingival, 3 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012380 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012381 MONDO:0017182 True hyperinsulinism due to INSR deficiency familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012382 MONDO:0015624 True hyperinsulinemic hypoglycemia, familial, 4 diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012383 MONDO:0021094 True primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012384 MONDO:0031240 True panic disorder 3 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012387 MONDO:0019852 True osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012388 MONDO:0001384 True myopia 11, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012389 MONDO:0001384 True myopia 12, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012391 MONDO:0020074 True neuronal ceroid lipofuscinosis 8 northern epilepsy variant progressive myoclonus epilepsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012392 MONDO:0019215 True 2-methylbutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012393 MONDO:0017352 True congenital brain dysgenesis due to glutamine synthetase deficiency disorder of glutamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012394 MONDO:0017923 True multiple synostoses syndrome 2 multiple synostoses syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012395 MONDO:0005129 True cataract 18 cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012396 MONDO:0015624 True exercise-induced hyperinsulinism diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012396 MONDO:0017706 True exercise-induced hyperinsulinism disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012399 MONDO:0000904 True complex cortical dysplasia with other brain malformations 7 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012399 MONDO:0015159 True complex cortical dysplasia with other brain malformations 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012400 MONDO:0003847 True cortical dysplasia-focal epilepsy syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012401 MONDO:0020213 True congenital stromal corneal dystrophy stromal corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012405 MONDO:0011023 True polyposis syndrome, hereditary mixed, 2 hereditary mixed polyposis syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012407 MONDO:0019237 True pyridoxal phosphate-responsive seizures inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012408 MONDO:0000170 True microphthalmia, isolated, with coloboma 3 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012409 MONDO:0000062 True isolated microphthalmia 2 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012410 MONDO:0016108 True Finnish upper limb-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012411 MONDO:0000128 True giant axonal neuropathy 2 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012411 MONDO:0018993 True giant axonal neuropathy 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012413 MONDO:0016073 True syndromic microphthalmia type 5 syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012417 MONDO:0016432 True heart-hand syndrome, Slovenian type heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012418 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 62 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012419 MONDO:0005150 True age related macular degeneration 7 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012420 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 49 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 44 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012425 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 2 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012429 MONDO:0018866 True Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012430 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012431 MONDO:0005711 True diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012433 MONDO:0017842 True Senior-Loken syndrome 6 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012434 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 10 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012435 MONDO:0017359 True 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012436 MONDO:0016391 True neonatal diabetes mellitus with congenital hypothyroidism neonatal diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012438 MONDO:0020135 True pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012439 MONDO:0007318 True Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012440 MONDO:0100246 True migraine with or without aura, susceptibility to, 10 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012441 MONDO:0100246 True migraine with or without aura, susceptibility to, 11 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012442 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 66 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012443 MONDO:0016483 True aneurysm, intracranial berry, 4 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012445 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 59 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012446 MONDO:0019268 True seborrhea-like dermatitis with psoriasiform elements epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012448 MONDO:0019064 True hereditary spastic paraplegia 33 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012449 MONDO:0019792 True spinocerebellar ataxia type 23 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012450 MONDO:0016387 True spinocerebellar ataxia type 28 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012450 MONDO:0019792 True spinocerebellar ataxia type 28 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012452 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 65 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012453 MONDO:0019064 True hereditary spastic paraplegia 31 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012455 MONDO:0015159 True Kleefstra syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012456 MONDO:0001176 True congenital primary aphakia lens disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012456 MONDO:0019503 True congenital primary aphakia anterior segment dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012457 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 2 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012460 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 67 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012463 MONDO:0019200 True retinitis pigmentosa 35 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012464 MONDO:0015993 True cone-rod dystrophy 10 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012465 MONDO:0017748 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012465 MONDO:0021181 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012467 MONDO:0015526 True cold-induced sweating syndrome 2 cold-induced sweating syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012469 MONDO:0001384 True myopia 14 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012471 MONDO:0018866 True Aicardi-Goutieres syndrome 3 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012472 MONDO:0018866 True Aicardi-Goutieres syndrome 4 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012474 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 4 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012474 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012475 MONDO:0000455 True cone dystrophy with supernormal rod response cone dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012476 MONDO:0019064 True hereditary spastic paraplegia 30 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012477 MONDO:0019200 True retinitis pigmentosa 33 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012478 MONDO:0000358 True orofacial cleft 9 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012479 MONDO:0000824 True congenital malabsorptive diarrhea 4 congenital diarrhea SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012481 MONDO:0017708 True mevalonic aciduria mevalonate kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012483 MONDO:0015993 True cone-rod dystrophy 11 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012485 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 68 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012487 MONDO:0008756 True alopecia-intellectual disability syndrome 2 alopecia - intellectual disability syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012491 MONDO:0100280 True macroglobulinemia, Waldenstrom, 2 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012492 MONDO:0100170 True restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012493 MONDO:0100170 True restless legs syndrome, susceptibility to, 4 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012495 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Genevieve type spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012496 MONDO:0015159 True Koolen-de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012497 MONDO:0000426 True congenital stationary night blindness autosomal dominant 3 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012497 MONDO:0016293 True congenital stationary night blindness autosomal dominant 3 congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012498 MONDO:0016293 True congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012500 MONDO:0018827 True chilblain lupus 1 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012502 MONDO:0018891 True normophosphatemic familial tumoral calcinosis familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012503 MONDO:0000210 True thiopurine S-methyltransferase deficiency thiopurine metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012504 MONDO:0000429 True camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012504 MONDO:0019685 True camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012505 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 2 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012506 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 11 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012507 MONDO:0000455 True retinal cone dystrophy 4 cone dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012508 MONDO:0015159 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012508 MONDO:0016463 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012509 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 1 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012511 MONDO:0002263 True preterm premature rupture of the membranes female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012513 MONDO:0018911 True maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012514 MONDO:0019046 True hypomyelinating leukodystrophy 5 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012516 MONDO:0000426 True mandibulofacial dysostosis-microcephaly syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012516 MONDO:0015159 True mandibulofacial dysostosis-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012516 MONDO:0018237 True mandibulofacial dysostosis-microcephaly syndrome acrofacial dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012518 MONDO:0000182 True congenital myasthenic syndrome 12 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012521 MONDO:0006009 True herpes simplex encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012523 MONDO:0019200 True retinitis pigmentosa 36 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012525 MONDO:0018998 True Leber congenital amaurosis 12 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012526 MONDO:0019623 True hereditary angioedema type 3 hereditary angioedema SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012529 MONDO:0015253 True Diamond-Blackfan anemia 3 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012530 MONDO:0017576 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012530 MONDO:0017666 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012532 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 4 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012533 MONDO:0020836 True autism, susceptibility to, 7 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012544 MONDO:0000429 True brachydactyly-syndactyly syndrome autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012545 MONDO:0015611 True neutral lipid storage myopathy neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012547 MONDO:0018997 True Noonan syndrome 4 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012548 MONDO:0015356 True Kostmann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012548 MONDO:0028226 True Kostmann syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012549 MONDO:0015244 True autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012551 MONDO:0000005 True alopecia areata 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012552 MONDO:0000426 True multiple endocrine neoplasia type 4 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012552 MONDO:0017169 True multiple endocrine neoplasia type 4 multiple endocrine neoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012553 MONDO:0008926 True cerebrooculofacioskeletal syndrome 2 COFS syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012554 MONDO:0008926 True cerebrooculofacioskeletal syndrome 4 COFS syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012555 MONDO:0016033 True Cornelia de Lange syndrome 3 Cornelia de Lange syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012556 MONDO:0005500 True DK1-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012556 MONDO:0016333 True DK1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012556 MONDO:0017749 True DK1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012557 MONDO:0016801 True cardiomyopathy-hypotonia-lactic acidosis syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012559 MONDO:0015134 True primary immunodeficiency syndrome due to p14 deficiency constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012566 MONDO:0020836 True autism, susceptibility to, 11 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012567 MONDO:0020836 True autism, susceptibility to, 12 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012569 MONDO:0008004 True mitral valve prolapse, myxomatous 3 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012573 MONDO:0017329 True vesicoureteral reflux 2 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0003847 True Potocki-Lupski syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0016950 True Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012583 MONDO:0005486 True tooth agenesis, selective, 5 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012589 MONDO:0003847 True Pitt-Hopkins syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012589 MONDO:0015159 True Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012590 MONDO:0002254 True XFE progeroid syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012590 MONDO:0003847 True XFE progeroid syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012594 MONDO:0003832 True complement factor I deficiency complement deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012596 MONDO:0018162 True PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012598 MONDO:0016070 True fibromatosis, gingival, 4 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012600 MONDO:0020836 True autism, susceptibility to, 9 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012601 MONDO:0020836 True autism, susceptibility to, 10 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012603 MONDO:0044202 True episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012605 MONDO:0000062 True isolated microphthalmia 5 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012608 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012608 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 4 neuronopathy, distal hereditary motor, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012610 MONDO:0005265 True inflammatory bowel disease 10 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012611 MONDO:0015653 True polyhydramnios, megalencephaly, and symptomatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012612 MONDO:0019502 True intellectual disability, autosomal recessive 12 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012613 MONDO:0019502 True intellectual disability, autosomal recessive 5 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012614 MONDO:0019502 True intellectual disability, autosomal recessive 6 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012615 MONDO:0019502 True intellectual disability, autosomal recessive 7 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012617 MONDO:0019502 True intellectual disability, autosomal recessive 9 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012618 MONDO:0019502 True intellectual disability, autosomal recessive 10 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012619 MONDO:0019502 True intellectual disability, autosomal recessive 11 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012621 MONDO:0016913 True deafness-infertility syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012622 MONDO:0016387 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012622 MONDO:0019046 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012623 MONDO:0019502 True intellectual disability, autosomal recessive 4 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012625 MONDO:0019200 True retinitis pigmentosa 37 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012626 MONDO:0018921 True Meckel syndrome, type 4 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012635 MONDO:0005501 True COG8-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012635 MONDO:0017750 True COG8-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012636 MONDO:0100170 True restless legs syndrome, susceptibility to, 6 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0005501 True COG1-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0015327 True COG1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0017750 True COG1-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012638 MONDO:0016073 True microphthalmia-brain atrophy syndrome syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012638 MONDO:0024237 True microphthalmia-brain atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012640 MONDO:0018995 True Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012641 MONDO:0100170 True restless legs syndrome, susceptibility to, 5 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012643 MONDO:0015150 True hereditary spastic paraplegia 32 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012644 MONDO:0018770 True asphyxiating thoracic dystrophy 2 Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012648 MONDO:0019215 True isobutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012650 MONDO:0031520 True Cernunnos-XLF deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012651 MONDO:0015150 True spastic ataxia 2 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012651 MONDO:0017845 True spastic ataxia 2 spastic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012652 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012653 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal dominant persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012654 MONDO:0006664 True atrial septal defect 4 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012656 MONDO:0015161 True lethal congenital contracture syndrome 3 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012656 MONDO:0017436 True lethal congenital contracture syndrome 3 lethal congenital contracture syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012658 MONDO:0019676 True brachydactyly type B2 brachydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012659 MONDO:0005150 True age related macular degeneration 9 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012662 MONDO:0016484 True Usher syndrome type 2D Usher syndrome type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012664 MONDO:0016387 True spastic ataxia 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012664 MONDO:0017847 True spastic ataxia 3 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012667 MONDO:0016333 True dilated cardiomyopathy 1W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012669 MONDO:0019289 True Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012670 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 63 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012671 MONDO:0003233 True tremor, hereditary essential, 3 essential tremor SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012672 MONDO:0700225 True cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012674 MONDO:0005150 True age related macular degeneration 10 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012675 MONDO:0003847 True corticosteroid-binding globulin deficiency hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012675 MONDO:0005495 True corticosteroid-binding globulin deficiency adrenal gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012676 MONDO:0019026 True autosomal recessive osteopetrosis 4 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012677 MONDO:0018054 True atrial fibrillation, familial, 4 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012678 MONDO:0018054 True atrial fibrillation, familial, 5 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012679 MONDO:0019026 True autosomal recessive osteopetrosis 6 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012680 MONDO:0019005 True nephronophthisis 7 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012681 MONDO:0000032 True febrile seizures, familial, 7 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012682 MONDO:0015979 True immunodeficiency 35 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012683 MONDO:0016387 True pontocerebellar hypoplasia type 6 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012683 MONDO:0020135 True pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012684 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 12 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012689 MONDO:0019852 True premature ovarian failure 5 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012690 MONDO:0018997 True Noonan syndrome 5 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012691 MONDO:0007893 True LEOPARD syndrome 2 Noonan syndrome with multiple lentigines SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012693 MONDO:0002412 True glycogen storage disease due to muscle and heart glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012694 MONDO:0018772 True Joubert syndrome 7 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012695 MONDO:0018921 True Meckel syndrome, type 5 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012696 MONDO:0005349 True otosclerosis 4 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012697 MONDO:0005349 True otosclerosis 7 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012699 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2M muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012699 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012699 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012700 MONDO:0015827 True renal tubular acidosis, distal, 4, with hemolytic anemia distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012701 MONDO:0005129 True cataract 12 multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012704 MONDO:0016333 True dilated cardiomyopathy 1X familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012705 MONDO:0005115 True familial temporal lobe epilepsy 3 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012706 MONDO:0005115 True familial temporal lobe epilepsy 4 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012707 MONDO:0000032 True familial febrile seizures 9 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012709 MONDO:0000170 True microphthalmia, isolated, with coloboma 5 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012713 MONDO:0016763 True spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012714 MONDO:0016333 True early-onset myopathy with fatal cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012714 MONDO:0019056 True early-onset myopathy with fatal cardiomyopathy neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012715 MONDO:0100246 True migraine with or without aura, susceptibility to, 12 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012716 MONDO:0016761 True spondyloepiphyseal dysplasia, Cantu type spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012718 MONDO:0000732 True hypotonia with lactic acidemia and hyperammonemia combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012721 MONDO:0016295 True progressive myoclonic epilepsy type 3 neuronal ceroid lipofuscinosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012721 MONDO:0020074 True progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012723 MONDO:0018998 True Leber congenital amaurosis 10 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012724 MONDO:0018768 True familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012725 MONDO:0015905 True lipoprotein glomerulopathy syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012727 MONDO:0002052 True mucocutaneous lymph node syndrome lymphadenitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012727 MONDO:0018882 True mucocutaneous lymph node syndrome vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012728 MONDO:0015263 True Brugada syndrome 2 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012729 MONDO:0001115 True erythrocytosis, familial, 4 familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012730 MONDO:0019625 True aortic aneurysm, familial thoracic 6 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012733 MONDO:0003004 True autosomal recessive bestrophinopathy macular degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012736 MONDO:0019171 True long QT syndrome 9 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012737 MONDO:0019171 True long QT syndrome 10 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012738 MONDO:0019171 True long QT syndrome 11 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012742 MONDO:0015263 True Brugada syndrome 3 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012743 MONDO:0015263 True Brugada syndrome 4 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012744 MONDO:0018901 True dilated cardiomyopathy 1Y left ventricular noncompaction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012745 MONDO:0016333 True dilated cardiomyopathy 1Z familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012746 MONDO:0016333 True dilated cardiomyopathy 2A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012748 MONDO:0016575 True primary ciliary dyskinesia 7 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012750 MONDO:0015168 True lethal arthrogryposis-anterior horn cell disease syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012751 MONDO:0007031 True aortic aneurysm, familial abdominal, 3 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012752 MONDO:0016483 True aneurysm, intracranial berry, 6 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012753 MONDO:0005144 True amyotrophic lateral sclerosis type 9 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012754 MONDO:0005514 True nanophthalmos 3 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012755 MONDO:0016227 True episodic ataxia type 7 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012756 MONDO:0016894 True proximal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012757 MONDO:0017015 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012757 MONDO:0044200 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012759 MONDO:0015159 True camptodactyly syndrome, Guadalajara type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012759 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 3 dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012761 MONDO:0016954 True chromosome 3q29 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012762 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012764 MONDO:0015244 True RIDDLE syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012765 MONDO:0019313 True lymphatic malformation 2 lymphatic malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012766 MONDO:0015149 True hereditary spastic paraplegia 37 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012767 MONDO:0005150 True age related macular degeneration 11 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012774 MONDO:0015159 True chromosome 15q13.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012774 MONDO:0016913 True chromosome 15q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012775 MONDO:0100241 True thrombocytopenia 4 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0005500 True RFT1-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0015327 True RFT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012783 MONDO:0017740 True RFT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012784 MONDO:0015244 True autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive cerebellar ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012784 MONDO:0018151 True autosomal recessive ataxia due to ubiquinone deficiency coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012785 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 3 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012786 MONDO:0000426 True juvenile cataract-microcornea-renal glucosuria syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012786 MONDO:0017706 True juvenile cataract-microcornea-renal glucosuria syndrome disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0015150 True hereditary spastic paraplegia 39 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0018117 True hereditary spastic paraplegia 39 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012789 MONDO:0000478 True dystonia 16 multifocal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012789 MONDO:0020065 True dystonia 16 combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012790 MONDO:0005144 True amyotrophic lateral sclerosis type 10 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012791 MONDO:0016796 True mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012792 MONDO:0016796 True mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0002254 True ANE syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0015770 True ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0018762 True ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012797 MONDO:0005349 True otosclerosis 8 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012801 MONDO:0020836 True autism, susceptibility to, 15 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012802 MONDO:0016073 True oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012803 MONDO:0017706 True diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012805 MONDO:0000188 True childhood onset GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012805 MONDO:0015427 True childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012808 MONDO:0016333 True dilated cardiomyopathy 1AA familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012810 MONDO:0016483 True aneurysm, intracranial berry, 7 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012811 MONDO:0016483 True aneurysm, intracranial berry, 8 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012812 MONDO:0100062 True developmental and epileptic encephalopathy, 4 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012813 MONDO:0019200 True retinitis pigmentosa 29 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012816 MONDO:0018054 True atrial fibrillation, familial, 6 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012817 MONDO:0005089 True Ewing sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012817 MONDO:0021038 True Ewing sarcoma Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012818 MONDO:0018911 True maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012824 MONDO:0017226 True hypomyelinating leukodystrophy 4 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012825 MONDO:0018078 True extraskeletal myxoid chondrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012828 MONDO:0018054 True atrial fibrillation, familial, 7 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012829 MONDO:0005265 True inflammatory bowel disease 12 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012830 MONDO:0016909 True chromosome 10q23 deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012831 MONDO:0005265 True inflammatory bowel disease 13 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012832 MONDO:0005265 True inflammatory bowel disease 14 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012833 MONDO:0000426 True Crouzon syndrome-acanthosis nigricans syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012833 MONDO:0015338 True Crouzon syndrome-acanthosis nigricans syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012837 MONDO:0005265 True inflammatory bowel disease 15 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012838 MONDO:0005265 True inflammatory bowel disease 16 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012839 MONDO:0015979 True pyogenic bacterial infections due to MyD88 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012840 MONDO:0005265 True inflammatory bowel disease 17 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012841 MONDO:0005265 True inflammatory bowel disease 18 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012842 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 7 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012844 MONDO:0016575 True primary ciliary dyskinesia 8 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012845 MONDO:0005265 True inflammatory bowel disease 19 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012846 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012848 MONDO:0018921 True Meckel syndrome, type 6 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012849 MONDO:0018772 True Joubert syndrome 9 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012850 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 1 nephrolithiasis/osteoporosis, hypophosphatemic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012851 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 2 nephrolithiasis/osteoporosis, hypophosphatemic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012852 MONDO:0005265 True inflammatory bowel disease 20 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012853 MONDO:0015161 True Fontaine progeroid syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012853 MONDO:0019287 True Fontaine progeroid syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012855 MONDO:0018772 True Joubert syndrome 8 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012856 MONDO:0000426 True Birk-Barel syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012858 MONDO:0020127 True primary CD59 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012859 MONDO:0019026 True autosomal recessive osteopetrosis 7 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012860 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal recessive hereditary thrombophilia due to congenital protein C deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012861 MONDO:0019852 True premature ovarian failure 6 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012864 MONDO:0016901 True chromosome 2q32-q33 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012864 MONDO:0100147 True chromosome 2q32-q33 deletion syndrome SATB2 associated disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012866 MONDO:0019064 True hereditary spastic paraplegia 35 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012867 MONDO:0015087 True hereditary spastic paraplegia 38 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012868 MONDO:0000426 True thrombophilia due to protein S deficiency, autosomal dominant autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012869 MONDO:0015802 True intellectual disability, autosomal dominant 22 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012871 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 2 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012872 MONDO:0100240 True thrombophilia, familial, due to decreased release of tissue plasminogen activator inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012875 MONDO:0005265 True inflammatory bowel disease 21 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012876 MONDO:0100240 True heparin cofactor 2 deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012883 MONDO:0018874 True acute promyelocytic leukemia acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012885 MONDO:0005500 True SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012885 MONDO:0017749 True SRD5A3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012886 MONDO:0005265 True inflammatory bowel disease 22 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012887 MONDO:0005265 True inflammatory bowel disease 23 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012890 MONDO:0016759 True pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012891 MONDO:0016759 True pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012892 MONDO:0019755 True bone fragility with contractures, arterial rupture, and deafness developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012895 MONDO:0015990 True torsion dystonia 17 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0000429 True congenital factor XI deficiency autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0021181 True congenital factor XI deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012899 MONDO:0000005 True alopecia, androgenetic, 3 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012900 MONDO:0016340 True cardiomyopathy, familial restrictive, 3 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012901 MONDO:0021181 True inherited prekallikrein deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012902 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012903 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 45 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012904 MONDO:0020074 True epilepsy, progressive myoclonic, 1B progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012905 MONDO:0019046 True hypomyelinating leukodystrophy 6 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012906 MONDO:0016575 True primary ciliary dyskinesia 9 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012907 MONDO:0019755 True blindness - scoliosis - arachnodactyly syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0019695 True pseudohypoparathyroidism type 1C acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0019992 True pseudohypoparathyroidism type 1C pseudohypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012912 MONDO:0019695 True pseudopseudohypoparathyroidism acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012912 MONDO:0019992 True pseudopseudohypoparathyroidism pseudohypoparathyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012914 MONDO:0022756 True chromosome 1q21.1 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012915 MONDO:0016952 True chromosome 1q21.1 duplication syndrome partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012916 MONDO:0016884 True chromosome 2p16.1-p15 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012917 MONDO:0000724 True specific language impairment 4 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012918 MONDO:0016575 True primary ciliary dyskinesia 10 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012922 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 5 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012927 MONDO:0016296 True chromosome 1q41-q42 deletion syndrome holoprosencephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012927 MONDO:0022756 True chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012928 MONDO:0015149 True hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012929 MONDO:0019952 True Compton-North congenital myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012930 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to G6PC3 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012932 MONDO:0001384 True myopia 16, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012933 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012937 MONDO:0015253 True Diamond-Blackfan anemia 6 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012938 MONDO:0015253 True Diamond-Blackfan anemia 7 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012939 MONDO:0015253 True Diamond-Blackfan anemia 8 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012940 MONDO:0005265 True inflammatory bowel disease 24 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012943 MONDO:0019200 True retinitis pigmentosa 46 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012945 MONDO:0005144 True amyotrophic lateral sclerosis type 11 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012946 MONDO:0100172 True intellectual disability, autosomal dominant 3 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012947 MONDO:0100172 True intellectual disability, autosomal dominant 4 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012948 MONDO:0015159 True chromosome 6pter-p24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012948 MONDO:0016888 True chromosome 6pter-p24 deletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012949 MONDO:0016483 True aneurysm, intracranial berry, 9 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012950 MONDO:0016483 True aneurysm, intracranial berry, 10 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012956 MONDO:0007462 True multiple sclerosis, susceptibility to, 2 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012957 MONDO:0007462 True multiple sclerosis, susceptibility to, 3 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012958 MONDO:0007462 True multiple sclerosis, susceptibility to, 4 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012960 MONDO:0100172 True intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012962 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 2 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012963 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 3 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012964 MONDO:0016913 True chromosome 15q26-qter deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012965 MONDO:0017615 True seizures, benign familial infantile, 4 benign familial infantile epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012966 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 4 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012968 MONDO:0010168 True Usher syndrome type 1H Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012969 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 5 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012970 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 6 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012971 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 7 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012972 MONDO:0000032 True febrile seizures, familial, 10 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012973 MONDO:0005265 True inflammatory bowel disease 26 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012974 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012975 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012976 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012977 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1B hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012978 MONDO:0016575 True primary ciliary dyskinesia 11 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012979 MONDO:0016575 True primary ciliary dyskinesia 12 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012980 MONDO:0003847 True endocrine-cerebro-osteodysplasia syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012980 MONDO:0043009 True endocrine-cerebro-osteodysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012981 MONDO:0019350 True hereditary spherocytosis type 4 hereditary spherocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012982 MONDO:0016227 True episodic ataxia type 6 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012983 MONDO:0015993 True cone-rod dystrophy 12 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0006025 True PHARC syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0018117 True PHARC syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0020127 True PHARC syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012985 MONDO:0019350 True hereditary spherocytosis type 5 hereditary spherocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012986 MONDO:0003847 True bilateral parasagittal parieto-occipital polymicrogyria hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012986 MONDO:0017091 True bilateral parasagittal parieto-occipital polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012989 MONDO:0016660 True microcephaly 7, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012990 MONDO:0018998 True Leber congenital amaurosis 13 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012991 MONDO:0006025 True Kahrizi syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012992 MONDO:0016387 True pancreatic insufficiency-anemia-hyperostosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012993 MONDO:0000736 True dyschromatosis universalis hereditaria 2 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012994 MONDO:0016812 True dopa-responsive dystonia due to sepiapterin reductase deficiency dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012994 MONDO:0044807 True dopa-responsive dystonia due to sepiapterin reductase deficiency inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012995 MONDO:0001384 True myopia 15, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013000 MONDO:0002520 True porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013000 MONDO:0019142 True porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013005 MONDO:0015962 True EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013005 MONDO:0100309 True EAST syndrome hereditary ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013006 MONDO:0000050 True isolated growth hormone deficiency type IB isolated congenital growth hormone deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013007 MONDO:0015695 True combined immunodeficiency due to ORAI1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013008 MONDO:0015695 True combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013010 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 71 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013011 MONDO:0006664 True atrial septal defect 5 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013012 MONDO:0005265 True inflammatory bowel disease 27 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013015 MONDO:0015263 True Brugada syndrome 5 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013016 MONDO:0017570 True leukocyte adhesion deficiency 3 leukocyte adhesion deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013018 MONDO:0000136 True keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013021 MONDO:0019751 True sterile multifocal osteomyelitis with periostitis and pustulosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013022 MONDO:0100170 True restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013023 MONDO:0000358 True orofacial cleft 12 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013025 MONDO:0016905 True chromosome 6q24-q25 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013026 MONDO:0000763 True subepithelial mucinous corneal dystrophy epithelial and subepithelial corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013026 MONDO:0020212 True subepithelial mucinous corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013027 MONDO:0020213 True posterior amorphous corneal dystrophy stromal corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013028 MONDO:0009637 True adenosine monophosphate deaminase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013028 MONDO:0019236 True adenosine monophosphate deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013029 MONDO:0020380 True cerebellar ataxia type 9 autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013030 MONDO:0016333 True dilated cardiomyopathy 1BB familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013031 MONDO:0020341 True chromosome 5Q14.3 deletion syndrome, distal periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013033 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 2 spastic quadriplegic cerebral palsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013034 MONDO:0018865 True keratosis palmoplantaris striata 2 striate palmoplantar keratoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013035 MONDO:0015375 True orofaciodigital syndrome XI orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013036 MONDO:0015159 True Zechi-Ceide syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013038 MONDO:0002254 True CLOVES syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013038 MONDO:0019296 True CLOVES syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013039 MONDO:0007477 True 3M syndrome 2 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013046 MONDO:0002412 True glycogen storage disease due to muscle beta-enolase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013047 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013048 MONDO:0019064 True hereditary spastic paraplegia 50 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0005500 True DPM3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0017749 True DPM3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013049 MONDO:0018276 True DPM3-congenital disorder of glycosylation muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013050 MONDO:0043009 True lethal polymalformative syndrome, Boissel type hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013051 MONDO:0019573 True autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013052 MONDO:0019200 True retinitis pigmentosa 42 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013053 MONDO:0015161 True microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013056 MONDO:0016801 True developmental and epileptic encephalopathy, 39 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013058 MONDO:0019046 True cystic leukoencephalopathy without megalencephaly leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013059 MONDO:0018866 True Aicardi-Goutieres syndrome 5 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013060 MONDO:0008199 True autosomal recessive Parkinson disease 14 late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013060 MONDO:0017998 True autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013061 MONDO:0018943 True myofibrillar myopathy 6 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013062 MONDO:0019171 True long QT syndrome 12 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013064 MONDO:0017923 True multiple synostoses syndrome 3 multiple synostoses syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013065 MONDO:0019852 True premature ovarian failure 7 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013066 MONDO:0010765 True 46,XY sex reversal 3 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013067 MONDO:0005129 True cataract 34 multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013069 MONDO:0016387 True autosomal recessive optic atrophy, OPA7 type mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013069 MONDO:0043878 True autosomal recessive optic atrophy, OPA7 type hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013070 MONDO:0004983 True spermatogenic failure 7 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013074 MONDO:0006574 True encephalocraniocutaneous lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013074 MONDO:0019296 True encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013090 MONDO:0015159 True chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013090 MONDO:0016917 True chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013092 MONDO:0100242 True glioma susceptibility 2 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013093 MONDO:0100242 True glioma susceptibility 3 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013094 MONDO:0100242 True glioma susceptibility 5 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013095 MONDO:0100242 True glioma susceptibility 6 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013096 MONDO:0100242 True glioma susceptibility 7 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013097 MONDO:0100242 True glioma susceptibility 8 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013099 MONDO:0015770 True combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013100 MONDO:0018054 True atrial fibrillation, familial, 8 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0005528 True neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0017313 True neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013110 MONDO:0024237 True neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013111 MONDO:0016387 True acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013114 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013116 MONDO:0009637 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013116 MONDO:0016387 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013118 MONDO:0015161 True Nijmegen breakage syndrome-like disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013119 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 77 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013120 MONDO:0010765 True 46,XY sex reversal 5 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013123 MONDO:0006664 True atrial septal defect 6 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013125 MONDO:0019716 True CLAPO syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013127 MONDO:0018770 True asphyxiating thoracic dystrophy 3 Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013128 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013128 MONDO:0015962 True familial juvenile hyperuricemic nephropathy type 2 inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013130 MONDO:0000062 True isolated microphthalmia 4 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013131 MONDO:0004691 True polycystic kidney disease 2 autosomal dominant polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013132 MONDO:0015087 True hereditary spastic paraplegia 36 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013133 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 5 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013135 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 5 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013136 MONDO:0004907 True hereditary hypotrichosis with recurrent skin vesicles alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013137 MONDO:0008982 True choroidal dystrophy, central areolar 2 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013139 MONDO:0008742 True neutropenia, severe congenital, 2, autosomal dominant autosomal dominant severe congenital neutropenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013140 MONDO:0015279 True candidiasis, familial, 4 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013142 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013143 MONDO:0018374 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013143 MONDO:0018383 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013143 MONDO:0100240 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0018374 True hereditary antithrombin deficiency secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0018383 True hereditary antithrombin deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013144 MONDO:0100240 True hereditary antithrombin deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013145 MONDO:0015263 True Brugada syndrome 6 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013146 MONDO:0015263 True Brugada syndrome 7 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013147 MONDO:0016333 True dilated cardiomyopathy 1CC familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013148 MONDO:0015263 True Brugada syndrome 8 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013150 MONDO:0020065 True parkinsonism-dystonia, infantile combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013151 MONDO:0008982 True choroidal dystrophy, central areolar, 3 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013154 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013155 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013156 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013157 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013158 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013159 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013160 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013161 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2O muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013161 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013162 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013162 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013162 MONDO:0016185 True autosomal recessive limb-girdle muscular dystrophy type 2N qualitative or quantitative defects of protein O-mannosyltransferase 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013163 MONDO:0019005 True nephronophthisis-like nephropathy 1 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013164 MONDO:0019238 True beta-ureidopropionase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013166 MONDO:0000698 True GABA aminotransaminase deficiency gamma-amino butyric acid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013166 MONDO:0017684 True GABA aminotransaminase deficiency disorder of beta and omega amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013167 MONDO:0005180 True parkinson disease 16 Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013168 MONDO:0016333 True dilated cardiomyopathy 1DD familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013169 MONDO:0015159 True chromosome 5p13 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013169 MONDO:0016942 True chromosome 5p13 duplication syndrome partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013170 MONDO:0006025 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013170 MONDO:0100237 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013171 MONDO:0019236 True purine nucleoside phosphorylase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013173 MONDO:0019502 True intellectual disability, autosomal recessive 13 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013174 MONDO:0016575 True primary ciliary dyskinesia 13 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013175 MONDO:0019200 True retinitis pigmentosa 50 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013176 MONDO:0018096 True Weill-Marchesani 4 syndrome, recessive Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013177 MONDO:0019950 True congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013178 MONDO:0019950 True congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013179 MONDO:0015150 True hereditary spastic paraplegia 44 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013182 MONDO:0015159 True chromosome 17p13.3 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013182 MONDO:0016950 True chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013188 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013191 MONDO:0005363 True focal segmental glomerulosclerosis 5 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013192 MONDO:0024512 True spondyloarthropathy, susceptibility to, 3 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013195 MONDO:0024573 True hypertrophic cardiomyopathy 13 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013196 MONDO:0018630 True Lynch syndrome 8 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013197 MONDO:0024573 True hypertrophic cardiomyopathy 14 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013198 MONDO:0016333 True dilated cardiomyopathy 1EE familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013199 MONDO:0001734 True tuberous sclerosis 2 tuberous sclerosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013200 MONDO:0024573 True hypertrophic cardiomyopathy 15 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013203 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 3 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013204 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 4 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013205 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 5 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013206 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 6 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013207 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 7 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013208 MONDO:0000214 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome hypermanganesemia with dystonia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013208 MONDO:0017766 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome disorder of manganese transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013209 MONDO:0004790 True metabolic dysfunction-associated steatotic liver disease fatty liver disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013210 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 25 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013211 MONDO:0016333 True dilated cardiomyopathy 1FF familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013212 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013215 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 79 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013216 MONDO:0015253 True Diamond-Blackfan anemia 9 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013217 MONDO:0015253 True Diamond-Blackfan anemia 10 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013220 MONDO:0019257 True hemochromatosis type 2B hemochromatosis type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013221 MONDO:0009685 True Miyoshi muscular dystrophy 2 Miyoshi myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013222 MONDO:0009685 True Miyoshi muscular dystrophy 3 Miyoshi myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013223 MONDO:0016763 True autosomal recessive spondylometaphyseal dysplasia, Megarbane type spondylometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013224 MONDO:0016473 True rhabdoid tumor predisposition syndrome 2 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013225 MONDO:0006536 True congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013226 MONDO:0003778 True combined immunodeficiency with faciooculoskeletal anomalies inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013227 MONDO:0021181 True congenital plasminogen activator inhibitor type 1 deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013230 MONDO:0013229 True epilepsy, hot water, 2 hot water reflex epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013231 MONDO:0018998 True Leber congenital amaurosis 14 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013238 MONDO:0016915 True chromosome 17q23.1-q23.2 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013239 MONDO:0015149 True hereditary spastic paraplegia 41 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013240 MONDO:0018911 True maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013241 MONDO:0019793 True spinocerebellar ataxia type 30 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013242 MONDO:0018911 True maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013245 MONDO:0015159 True syndromic multisystem autoimmune disease due to ITCH deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013248 MONDO:0019391 True Fanconi anemia complementation group O Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013249 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84A hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013250 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 85 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013252 MONDO:0003847 True Warsaw breakage syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013252 MONDO:0015161 True Warsaw breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013253 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 3 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013254 MONDO:0100062 True microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis-renal dysfunction-cholestasis syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013256 MONDO:0003847 True chromosome 15q24 deletion syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013256 MONDO:0015159 True chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013256 MONDO:0016913 True chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013258 MONDO:0020836 True autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013261 MONDO:0018901 True dilated cardiomyopathy 1R left ventricular noncompaction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013262 MONDO:0018901 True dilated cardiomyopathy 1S left ventricular noncompaction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013264 MONDO:0005144 True amyotrophic lateral sclerosis type 12 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013265 MONDO:0020836 True autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013267 MONDO:0016894 True distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013271 MONDO:0016643 True frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome frontonasal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013272 MONDO:0016912 True chromosome 14q11-q22 deletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013273 MONDO:0016949 True chromosome 16p13.3 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013274 MONDO:0019200 True retinitis pigmentosa 51 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013275 MONDO:0017688 True hemolytic anemia due to glucophosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013277 MONDO:0100062 True developmental and epileptic encephalopathy, 5 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013278 MONDO:0019313 True lymphatic malformation 3 lymphatic malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013279 MONDO:0019171 True long QT syndrome 13 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013281 MONDO:0005501 True COG4-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013281 MONDO:0017750 True COG4-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013282 MONDO:0002273 True alpha 1-antitrypsin deficiency plasma protein metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013283 MONDO:0015517 True immunodeficiency, common variable, 3 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013284 MONDO:0015517 True immunodeficiency, common variable, 4 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013292 MONDO:0016903 True chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013298 MONDO:0015159 True chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013298 MONDO:0016967 True chromosome 17q21.31 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013300 MONDO:0015411 True commissural facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013301 MONDO:0019852 True aromatase deficiency inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013302 MONDO:0019005 True nephronophthisis 11 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013304 MONDO:0019565 True von Willebrand disease 2 hereditary von Willebrand disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013305 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013306 MONDO:0000732 True combined oxidative phosphorylation defect type 7 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013307 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013308 MONDO:0021060 True CBL-related disorder RASopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013310 MONDO:0018479 True congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013311 MONDO:0019287 True ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013312 MONDO:0019200 True retinitis pigmentosa 55 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013313 MONDO:0013311 True ectodermal dysplasia-cutaneous syndactyly syndrome ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013314 MONDO:0019200 True retinitis pigmentosa 56 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013315 MONDO:0019200 True retinitis pigmentosa 57 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013316 MONDO:0003004 True occult macular dystrophy macular degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013320 MONDO:0016894 True chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013324 MONDO:0002013 True lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013325 MONDO:0017750 True COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013326 MONDO:0017842 True Senior-Loken syndrome 7 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013327 MONDO:0002474 True primary hyperoxaluria type 3 primary hyperoxaluria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013328 MONDO:0019200 True retinitis pigmentosa 58 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013329 MONDO:0016046 True familial clubfoot due to 17q23.1q23.2 microduplication familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013329 MONDO:0016967 True familial clubfoot due to 17q23.1q23.2 microduplication partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013334 MONDO:0003847 True cocoon syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013334 MONDO:0019054 True cocoon syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013336 MONDO:0015159 True chromosome 19p13.13 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013336 MONDO:0016897 True chromosome 19p13.13 deletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013337 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1C hereditary sensory and autonomic neuropathy type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013338 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013339 MONDO:0016333 True dilated cardiomyopathy 1GG familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013341 MONDO:0002012 True methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013341 MONDO:0019220 True methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013342 MONDO:0002561 True hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013344 MONDO:0100246 True migraine, with or without aura, susceptibility to, 13 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013345 MONDO:0010924 True d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013348 MONDO:0015993 True cone-rod dystrophy 15 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013348 MONDO:0019200 True cone-rod dystrophy 15 retinitis pigmentosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013349 MONDO:0005500 True ALG11-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013349 MONDO:0017740 True ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013350 MONDO:0018158 True mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013351 MONDO:0002602 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly central nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013351 MONDO:0003847 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013352 MONDO:0000508 True intellectual disability-severe speech delay-mild dysmorphism syndrome syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013352 MONDO:0003847 True intellectual disability-severe speech delay-mild dysmorphism syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013354 MONDO:0016387 True spastic ataxia 4 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013354 MONDO:0017847 True spastic ataxia 4 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013355 MONDO:0019403 True congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013356 MONDO:0017329 True vesicoureteral reflux 3 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013357 MONDO:0016915 True chromosome 17q11.2 deletion syndrome, 1.4Mb partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013357 MONDO:0018975 True chromosome 17q11.2 deletion syndrome, 1.4Mb neurofibromatosis type 1 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013358 MONDO:0019342 True Seckel syndrome 4 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013359 MONDO:0016525 True familial hyperaldosteronism type III familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013360 MONDO:0015262 True brachyolmia, Maroteaux type brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013361 MONDO:0006025 True congenital prothrombin deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013361 MONDO:0015722 True congenital prothrombin deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013362 MONDO:0015159 True THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013363 MONDO:0016953 True chromosome 2q31.1 duplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013364 MONDO:0019188 True Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013365 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 83 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013367 MONDO:0019171 True long QT syndrome 2 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013368 MONDO:0018234 True mammary-digital-nail syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013368 MONDO:0019054 True mammary-digital-nail syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013369 MONDO:0024573 True hypertrophic cardiomyopathy 7 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013370 MONDO:0019171 True long QT syndrome 6 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013371 MONDO:0016333 True dilated cardiomyopathy 1U familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013372 MONDO:0019171 True long QT syndrome 5 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013373 MONDO:0016333 True dilated cardiomyopathy 1V familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013375 MONDO:0001029 True Klippel-Feil syndrome 3, autosomal dominant Klippel-Feil syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013376 MONDO:0000170 True microphthalmia, isolated, with coloboma 6 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013377 MONDO:0000062 True isolated microphthalmia 7 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013379 MONDO:0018997 True Noonan syndrome 7 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013380 MONDO:0007893 True LEOPARD syndrome 3 Noonan syndrome with multiple lentigines SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013381 MONDO:0018213 True neuropathy, hereditary sensory, type 1D hereditary sensory and autonomic neuropathy type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013382 MONDO:0000152 True progressive demyelinating neuropathy with bilateral striatal necrosis thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013385 MONDO:0002457 True Treacher Collins syndrome 2 Treacher-Collins syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013386 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 74 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013387 MONDO:0100062 True developmental and epileptic encephalopathy, 7 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013388 MONDO:0100062 True developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013390 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013390 MONDO:0016198 True autosomal recessive limb-girdle muscular dystrophy type 2Q qualitative or quantitative defects of plectin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013391 MONDO:0019046 True sterol carrier protein 2 deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013391 MONDO:0019233 True sterol carrier protein 2 deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013392 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 10 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013393 MONDO:0016906 True distal 7q11.23 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013395 MONDO:0019200 True retinitis pigmentosa 4 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013396 MONDO:0003847 True chromosome 1p32-p31 deletion syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013396 MONDO:0016883 True chromosome 1p32-p31 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013397 MONDO:0024516 True acne inversa, familial, 2 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013398 MONDO:0024516 True acne inversa, familial, 3 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013400 MONDO:0003847 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013400 MONDO:0005495 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency adrenal gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013400 MONDO:0020040 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013401 MONDO:0019064 True hereditary spastic paraplegia 51 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013402 MONDO:0019200 True retinitis pigmentosa 27 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013403 MONDO:0018677 True heterotaxy, visceral, 4, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013404 MONDO:0000351 True hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase disorder of methionine catabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013405 MONDO:0019200 True retinitis pigmentosa 49 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013406 MONDO:0005150 True age related macular degeneration 6 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013407 MONDO:0019200 True retinitis pigmentosa 47 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013408 MONDO:0021094 True FADD-related immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013410 MONDO:0010765 True 46,XY sex reversal 6 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013412 MONDO:0024573 True hypertrophic cardiomyopathy 9 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013413 MONDO:0019200 True retinitis pigmentosa 45 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013414 MONDO:0019200 True retinitis pigmentosa 44 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013416 MONDO:0005150 True age related macular degeneration 8 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013418 MONDO:0019625 True aortic aneurysm, familial thoracic 7 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013420 MONDO:0005150 True age related macular degeneration 12 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013423 MONDO:0044209 True immunodeficiency due to MASP-2 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013424 MONDO:0016885 True 3p- syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013424 MONDO:0017393 True 3p- syndrome blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013425 MONDO:0019200 True retinitis pigmentosa 20 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013426 MONDO:0018954 True aneurysm-osteoarthritis syndrome Loeys-Dietz syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013427 MONDO:0015979 True immunodeficiency 31B hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013428 MONDO:0016817 True Meier-Gorlin syndrome 2 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013429 MONDO:0019200 True retinitis pigmentosa 40 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013430 MONDO:0016817 True Meier-Gorlin syndrome 3 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013431 MONDO:0016817 True Meier-Gorlin syndrome 4 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013432 MONDO:0016817 True Meier-Gorlin syndrome 5 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013433 MONDO:0018646 True primary sclerosing cholangitis sclerosing cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013434 MONDO:0016575 True primary ciliary dyskinesia 14 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013435 MONDO:0016575 True primary ciliary dyskinesia 15 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013436 MONDO:0019200 True retinitis pigmentosa 39 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013437 MONDO:0019200 True retinitis pigmentosa 43 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013438 MONDO:0016759 True pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013439 MONDO:0018841 True congenital bile acid synthesis defect 3 congenital bile acid synthesis defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013440 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2P muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013440 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013441 MONDO:0018770 True asphyxiating thoracic dystrophy 4 Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013442 MONDO:0019005 True nephronophthisis 12 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013443 MONDO:0019342 True Seckel syndrome 5 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013444 MONDO:0019005 True nephronophthisis 9 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013446 MONDO:0018998 True Leber congenital amaurosis 6 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013447 MONDO:0019200 True retinitis pigmentosa 48 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013448 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013449 MONDO:0018998 True Leber congenital amaurosis 7 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013450 MONDO:0016293 True congenital stationary night blindness 1D congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013453 MONDO:0018998 True Leber congenital amaurosis 8 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013454 MONDO:0018998 True Leber congenital amaurosis 11 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013455 MONDO:0024573 True hypertrophic cardiomyopathy 16 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013456 MONDO:0016624 True constitutional megaloblastic anemia with severe neurologic disease inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013456 MONDO:0017313 True constitutional megaloblastic anemia with severe neurologic disease disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013457 MONDO:0018998 True Leber congenital amaurosis 15 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013458 MONDO:0015962 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013458 MONDO:0016387 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013464 MONDO:0016227 True episodic ataxia type 5 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013465 MONDO:0018852 True achromatopsia 4 achromatopsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013466 MONDO:0000358 True orofacial cleft 13 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013467 MONDO:0044209 True immunodeficiency due to ficolin3 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013468 MONDO:0019200 True retinitis pigmentosa 59 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013469 MONDO:0019200 True retinitis pigmentosa 38 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013470 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 7 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013471 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 61 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013472 MONDO:0018943 True fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013474 MONDO:0024573 True hypertrophic cardiomyopathy 17 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013475 MONDO:0024573 True hypertrophic cardiomyopathy 18 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013477 MONDO:0024573 True hypertrophic cardiomyopathy 20 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013478 MONDO:0020088 True PLIN1-related familial partial lipodystrophy familial partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013479 MONDO:0016333 True dilated cardiomyopathy 1HH familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013481 MONDO:0016911 True chromosome 13q14 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013482 MONDO:0018921 True Meckel syndrome, type 8 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013484 MONDO:0005129 True cataract 36 cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013485 MONDO:0019792 True spinocerebellar ataxia type 35 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013486 MONDO:0019792 True spinocerebellar ataxia type 32 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013489 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 89 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013490 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013491 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013492 MONDO:0008756 True alopecia-intellectual disability syndrome 3 alopecia - intellectual disability syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013495 MONDO:0017265 True autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013498 MONDO:0003847 True schizophrenia 15 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013498 MONDO:0005090 True schizophrenia 15 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013499 MONDO:0019391 True Fanconi anemia complementation group P Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013501 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013501 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013502 MONDO:0007101 True amyloidosis, primary localized cutaneous, 2 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013503 MONDO:0015279 True candidiasis, familial, 6 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013504 MONDO:0004983 True spermatogenic failure 8 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013505 MONDO:0004983 True spermatogenic failure 9 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013505 MONDO:0015746 True spermatogenic failure 9 male infertility due to globozoospermia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013506 MONDO:0005090 True schizophrenia 16 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013507 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 chronic granulomatous disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013508 MONDO:0001384 True myopia 19, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013509 MONDO:0100172 True intellectual disability, autosomal dominant 6 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013510 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 6 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013512 MONDO:0011399 True hemoglobin H disease alpha thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013513 MONDO:0018054 True atrial fibrillation, familial, 9 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013514 MONDO:0003037 True hypotrichosis 3 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013516 MONDO:0019200 True retinitis pigmentosa 60 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013518 MONDO:0013099 True pituitary hormone deficiency, combined, 6 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013519 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 2 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013519 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013520 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 3 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013520 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013521 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 2 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013521 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013522 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 3 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013522 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013523 MONDO:0006025 True Nestor-Guillermo progeria syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013523 MONDO:0019707 True Nestor-Guillermo progeria syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013523 MONDO:0020732 True Nestor-Guillermo progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013525 MONDO:0016575 True primary ciliary dyskinesia 16 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013526 MONDO:0020074 True progressive myoclonic epilepsy type 6 progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013527 MONDO:0015204 True lissencephaly 4 microlissencephaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013528 MONDO:0019502 True intellectual disability, autosomal recessive 14 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013529 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013530 MONDO:0018054 True atrial fibrillation, familial, 10 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013531 MONDO:0018162 True PSPH deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013533 MONDO:0015903 True hyperlipidemia due to hepatic triglyceride lipase deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013534 MONDO:0019052 True apolipoprotein c-III deficiency inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013536 MONDO:0017754 True heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013539 MONDO:0019052 True hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013540 MONDO:0005570 True deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013542 MONDO:0016820 True Moyamoya disease 5 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013544 MONDO:0018054 True atrial fibrillation, familial, 11 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013545 MONDO:0018054 True atrial fibrillation, familial, 12 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013547 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial proton-transporting ATP synthase complex deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013550 MONDO:0016108 True distal myopathy with posterior leg and anterior hand involvement autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013551 MONDO:0019064 True hereditary spastic paraplegia 47 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013552 MONDO:0019064 True hereditary spastic paraplegia 52 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013553 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013559 MONDO:0019312 True Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013560 MONDO:0019312 True Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013561 MONDO:0002081 True chondrodysplasia with joint dislocations, gPAPP type musculoskeletal system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 1 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013563 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013565 MONDO:0019391 True Fanconi anemia complementation group G Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013566 MONDO:0019391 True Fanconi anemia complementation group L Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013567 MONDO:0006664 True atrial septal defect 3 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013569 MONDO:0018770 True short-rib thoracic dysplasia 7 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013570 MONDO:0000732 True combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013572 MONDO:0020087 True Keppen-Lubinsky syndrome hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013573 MONDO:0009032 True cranioectodermal dysplasia 3 cranioectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013574 MONDO:0019755 True cutis laxa - Marfanoid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013576 MONDO:0003778 True recurrent infections associated with rare immunoglobulin isotypes deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013578 MONDO:0015159 True DYRK1A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013578 MONDO:0100172 True DYRK1A-related intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013579 MONDO:0019242 True methylmalonate semialdehyde dehydrogenase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013580 MONDO:0019169 True pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013581 MONDO:0100172 True intellectual disability, autosomal dominant 2 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013582 MONDO:0000141 True mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013584 MONDO:0015547 True hereditary sensory neuropathy-deafness-dementia syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013584 MONDO:0024237 True hereditary sensory neuropathy-deafness-dementia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013585 MONDO:0006037 True hydrolethalus syndrome 2 hydrolethalus syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013587 MONDO:0016527 True glycogen storage disease due to lactate dehydrogenase H-subunit deficiency glycogen storage disease due to lactate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013588 MONDO:0017312 True Perrault syndrome 3 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013589 MONDO:0005363 True focal segmental glomerulosclerosis 6 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013590 MONDO:0019354 True Stickler syndrome, type 4 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013591 MONDO:0015627 True epiphyseal dysplasia, multiple, 6 multiple epiphyseal dysplasia due to collagen 9 anomaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013593 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013594 MONDO:0019792 True spinocerebellar ataxia type 36 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013597 MONDO:0000009 True platelet-type bleeding disorder 14 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013598 MONDO:0003939 True myostatin-related muscle hypertrophy muscle tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013599 MONDO:0015126 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013599 MONDO:0015279 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome chronic mucocutaneous candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013599 MONDO:0019787 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013602 MONDO:0000448 True paragangliomas 5 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013603 MONDO:0001384 True myopia 20, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013604 MONDO:0001384 True myopia 21, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013605 MONDO:0009242 True brittle cornea syndrome 2 brittle cornea syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013606 MONDO:0019312 True Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013608 MONDO:0018772 True Joubert syndrome 13 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013609 MONDO:0018921 True Meckel syndrome, type 10 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013610 MONDO:0019200 True retinitis pigmentosa 61 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013615 MONDO:0015338 True craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013616 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 3 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013625 MONDO:0008199 True Parkinson disease 17 late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013626 MONDO:0019268 True psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013627 MONDO:0007477 True 3M syndrome 3 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013628 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 3 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013629 MONDO:0019502 True intellectual disability, autosomal recessive 16 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013630 MONDO:0018921 True Meckel syndrome, type 9 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013632 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013634 MONDO:0019941 True neuropathy, hereditary sensory, type 2C hereditary sensory and autonomic neuropathy type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013635 MONDO:0007034 True Adams-Oliver syndrome 2 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013636 MONDO:0005388 True primary biliary cholangitis 4 primary biliary cholangitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013637 MONDO:0005388 True primary biliary cholangitis 5 primary biliary cholangitis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013638 MONDO:0016649 True Warburg micro syndrome 3 Warburg micro syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013641 MONDO:0016649 True Warburg micro syndrome 2 Warburg micro syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013642 MONDO:0016296 True holoprosencephaly 11 holoprosencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013644 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013645 MONDO:0020047 True autosomal recessive spinocerebellar ataxia 11 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013646 MONDO:0015159 True chromosome 8q21.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013646 MONDO:0016907 True chromosome 8q21.11 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013648 MONDO:0019289 True familial progressive hyperpigmentation hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013649 MONDO:0003037 True hypotrichosis 9 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013650 MONDO:0003037 True hypotrichosis 10 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013651 MONDO:0019502 True intellectual disability, autosomal recessive 18 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013654 MONDO:0016483 True aneurysm, intracranial berry, 11 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013657 MONDO:0100172 True intellectual disability, autosomal dominant 10 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013658 MONDO:0100172 True intellectual disability, autosomal dominant 11 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013661 MONDO:0019215 True combined malonic and methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013662 MONDO:0003749 True Barrett esophagus esophageal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013664 MONDO:0010765 True 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013666 MONDO:0019354 True Stickler syndrome, type 5 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013668 MONDO:0016951 True tetrasomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013669 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 4 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013673 MONDO:0003847 True Wolfram-like syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013674 MONDO:0018307 True neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013675 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 2 fatal multiple mitochondrial dysfunctions syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013679 MONDO:0017838 True sclerosteosis 2 sclerosteosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013682 MONDO:0017329 True vesicoureteral reflux 4 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013683 MONDO:0017329 True vesicoureteral reflux 5 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013684 MONDO:0017329 True vesicoureteral reflux 6 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013686 MONDO:0016108 True distal myopathy, Tateyama type autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013687 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0019289 True linear and whorled nevoid hypermelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013690 MONDO:0003847 True Pitt-Hopkins-like syndrome 2 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013692 MONDO:0015356 True BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013693 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 1 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013695 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013695 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 6 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013697 MONDO:0019502 True intellectual disability, autosomal recessive 29 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013698 MONDO:0015240 True arthrogryposis, distal, type 1B digitotalar dysmorphism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013699 MONDO:0000426 True Lynch syndrome 4 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013699 MONDO:0018630 True Lynch syndrome 4 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013700 MONDO:0002525 True pancreatic triacylglycerol lipase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013702 MONDO:0019502 True intellectual disability, autosomal recessive 27 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013703 MONDO:0019502 True intellectual disability, autosomal recessive 33 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013704 MONDO:0019502 True intellectual disability, autosomal recessive 30 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013706 MONDO:0019502 True intellectual disability, autosomal recessive 23 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013707 MONDO:0019502 True intellectual disability, autosomal recessive 24 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013710 MONDO:0000426 True Lynch syndrome 5 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013710 MONDO:0018630 True Lynch syndrome 5 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0015362 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0016108 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013712 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 5 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013714 MONDO:0044209 True mannose-binding lectin deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013716 MONDO:0007031 True aortic aneurysm, familial abdominal, 4 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013722 MONDO:0020022 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013725 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013725 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 7 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013726 MONDO:0054865 True encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013730 MONDO:0005046 True graft versus host disease immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013731 MONDO:0019952 True MEGF10-related myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013734 MONDO:0016073 True microphthalmia, syndromic 11 syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013735 MONDO:0015159 True microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013737 MONDO:0015150 True hereditary spastic paraplegia 46 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013738 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 96 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013739 MONDO:0018827 True chilblain lupus 2 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013740 MONDO:0015338 True lethal occipital encephalocele-skeletal dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013741 MONDO:0005115 True familial temporal lobe epilepsy 5 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013745 MONDO:0018772 True Joubert syndrome 14 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013746 MONDO:0002070 True ventricular septal defect 1 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013747 MONDO:0020290 True atrioventricular septal defect 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013748 MONDO:0002070 True ventricular septal defect 2 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013749 MONDO:0002070 True ventricular septal defect 3 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013750 MONDO:0006664 True atrial septal defect 8 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013751 MONDO:0019571 True cutis laxa, autosomal dominant 2 autosomal dominant cutis laxa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013752 MONDO:0004933 True hypoplastic left heart syndrome 2 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013753 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013754 MONDO:0019572 True cutis laxa, autosomal recessive, type 1B autosomal recessive cutis laxa type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013755 MONDO:0017569 True PYCR1-related de Barsy syndrome de Barsy syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013755 MONDO:0100237 True PYCR1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013756 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 2 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013757 MONDO:0000045 True congenital nongoitrous hypothryoidism 6 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013758 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate E autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013759 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 8 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013760 MONDO:0018117 True congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013761 MONDO:0000152 True childhood encephalopathy due to thiamine pyrophosphokinase deficiency thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013762 MONDO:0018424 True lipoic acid synthetase deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013762 MONDO:0019169 True lipoic acid synthetase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013763 MONDO:0018772 True Joubert syndrome 15 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013764 MONDO:0018772 True Joubert syndrome 16 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013766 MONDO:0018768 True familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013767 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013768 MONDO:0018870 True arterial calcification, generalized, of infancy, 2 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013769 MONDO:0020290 True atrioventricular septal defect 5 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013770 MONDO:0006664 True atrial septal defect 9 atrial septal defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013773 MONDO:0020496 True porencephaly 2 familial porencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013774 MONDO:0018065 True trigonocephaly 2 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013775 MONDO:0100240 True thrombomodulin-related bleeding disorder inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013776 MONDO:0017847 True spastic ataxia 5 autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013776 MONDO:0018158 True spastic ataxia 5 mitochondrial DNA depletion syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013777 MONDO:0019162 True pseudohypoaldosteronism type 2B pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013778 MONDO:0019162 True pseudohypoaldosteronism type 2C pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013780 MONDO:0019200 True retinitis pigmentosa 63 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013781 MONDO:0019162 True pseudohypoaldosteronism type 2D pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013782 MONDO:0019162 True pseudohypoaldosteronism type 2E pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013783 MONDO:0000170 True microphthalmia, isolated, with coloboma 7 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013785 MONDO:0019502 True intellectual disability, autosomal recessive 34 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013786 MONDO:0015993 True cone-rod dystrophy 16 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013786 MONDO:0019200 True cone-rod dystrophy 16 retinitis pigmentosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013788 MONDO:0016485 True Usher syndrome type 3B Usher syndrome type 3 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013789 MONDO:0005500 True DDOST-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013789 MONDO:0017740 True DDOST-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013790 MONDO:0016558 True mirror movements 2 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013794 MONDO:0019111 True thrombocythemia 3 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013795 MONDO:0016068 True fibrochondrogenesis 2 fibrochondrogenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013796 MONDO:0016967 True chromosome 17q12 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013797 MONDO:0016915 True chromosome 17q12 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013800 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0016790 True infantile cerebellar-retinal degeneration tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0019118 True infantile cerebellar-retinal degeneration inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0024237 True infantile cerebellar-retinal degeneration inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013806 MONDO:0015356 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013806 MONDO:0019293 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013807 MONDO:0016293 True congenital stationary night blindness 1E congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0015356 True Maffucci syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019293 True Maffucci syndrome skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019716 True Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0019755 True Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013810 MONDO:0017750 True COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013813 MONDO:0000476 True dystonia 21 generalized dystonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013815 MONDO:0031615 True bent bone dysplasia syndrome 1 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013817 MONDO:0005081 True preeclampsia/eclampsia 5 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013818 MONDO:0009105 True trichohepatoenteric syndrome 2 trichohepatoenteric syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013819 MONDO:0000426 True intellectual disability, autosomal dominant 14 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013819 MONDO:0015452 True intellectual disability, autosomal dominant 14 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013820 MONDO:0000426 True intellectual disability, autosomal dominant 15 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013820 MONDO:0015452 True intellectual disability, autosomal dominant 15 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013821 MONDO:0000426 True intellectual disability, autosomal dominant 16 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013821 MONDO:0015452 True intellectual disability, autosomal dominant 16 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013822 MONDO:0019797 True acrodysostosis 2 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013823 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013824 MONDO:0018772 True Joubert syndrome 17 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013825 MONDO:0000824 True congenital diarrhea 6 congenital diarrhea SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013826 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 86 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013827 MONDO:0021022 True hyperekplexia 3 hereditary hyperekplexia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013828 MONDO:0021022 True hyperekplexia 2 hereditary hyperekplexia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013829 MONDO:0015797 True UV-sensitive syndrome 2 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013830 MONDO:0015486 True keratoconus 5 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013831 MONDO:0015486 True keratoconus 6 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013832 MONDO:0015486 True keratoconus 8 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013833 MONDO:0015486 True keratoconus 7 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013834 MONDO:0015797 True UV-sensitive syndrome 3 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013835 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013836 MONDO:0018151 True familial steroid-resistant nephrotic syndrome with sensorineural deafness coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013837 MONDO:0018151 True deafness-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013838 MONDO:0018151 True coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013839 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013840 MONDO:0018151 True encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013841 MONDO:0000723 True stuttering, familial persistent, 3 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013842 MONDO:0000193 True cortisone reductase deficiency 2 cortisone reductase deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013844 MONDO:0000723 True stuttering, familial persistent, 4 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013845 MONDO:0000107 True auriculocondylar syndrome 2 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013847 MONDO:0016949 True chromosome 16p11.2 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013848 MONDO:0016333 True dilated cardiomyopathy 2B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013849 MONDO:0016660 True microcephaly 8, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013851 MONDO:0000159 True autosomal dominant aplasia and myelodysplasia bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013851 MONDO:0001713 True autosomal dominant aplasia and myelodysplasia inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013852 MONDO:0024573 True hypertrophic cardiomyopathy 21 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013853 MONDO:0016396 True pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013854 MONDO:0016575 True primary ciliary dyskinesia 17 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013858 MONDO:0020022 True pontine tegmental cap dysplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013862 MONDO:0015517 True immunodeficiency, common variable, 7 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013863 MONDO:0015517 True combined immunodeficiency due to LRBA deficiency common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013864 MONDO:0016033 True Cornelia de Lange syndrome 4 Cornelia de Lange syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013865 MONDO:0000732 True mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013867 MONDO:0008891 True brown-Vialetto-van Laere syndrome 2 riboflavin transporter deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013869 MONDO:0019236 True adenine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013870 MONDO:0005501 True TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013870 MONDO:0017740 True TMEM165-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013871 MONDO:0019342 True Seckel syndrome 6 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013873 MONDO:0002254 True IMAGe syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013874 MONDO:0008733 True glucocorticoid deficiency 4 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013875 MONDO:0004069 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013875 MONDO:0017359 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013875 MONDO:0018117 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013877 MONDO:0004069 True mitochondrial pyruvate carrier deficiency inborn mitochondrial metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013877 MONDO:0006025 True mitochondrial pyruvate carrier deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013877 MONDO:0016789 True mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013878 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013879 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013882 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 2 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013883 MONDO:0000182 True congenital myasthenic syndrome 13 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013885 MONDO:0003847 True Malan overgrowth syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013885 MONDO:0019716 True Malan overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013886 MONDO:0019792 True cerebellar dysfunction with variable cognitive and behavioral abnormalities autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013887 MONDO:0018677 True heterotaxy, visceral, 6, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013888 MONDO:0003233 True tremor, hereditary essential, 4 essential tremor SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013890 MONDO:0018947 True congenital myopathy with internal nuclei and atypical cores centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013891 MONDO:0005144 True amyotrophic lateral sclerosis type 18 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013892 MONDO:0018013 True C3 glomerulonephritis non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013893 MONDO:0007462 True multiple sclerosis, susceptibility to, 5 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013895 MONDO:0007034 True Adams-Oliver syndrome 3 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013896 MONDO:0018772 True Joubert syndrome 18 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013897 MONDO:0018954 True Loeys-Dietz syndrome 4 Loeys-Dietz syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013898 MONDO:0001085 True karyomegalic interstitial nephritis interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013899 MONDO:0018096 True Weill-Marchesani syndrome 3 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013900 MONDO:0016241 True alternating hemiplegia of childhood 2 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013901 MONDO:0004983 True spermatogenic failure 10 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013902 MONDO:0007194 True aortic valve disease 2 familial bicuspid aortic valve SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013903 MONDO:0005712 True nystagmus 7, congenital, autosomal dominant congenital nystagmus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013904 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013905 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013907 MONDO:0017091 True bilateral generalized polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013912 MONDO:0018555 True hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013914 MONDO:0018555 True hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013915 MONDO:0018555 True hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013916 MONDO:0019005 True nephronophthisis 14 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013917 MONDO:0019005 True nephronophthisis 15 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013918 MONDO:0017806 True distal tetrasomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013922 MONDO:0019342 True Seckel syndrome 7 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013923 MONDO:0016660 True microcephaly 9, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013924 MONDO:0019019 True osteogenesis imperfecta type 13 osteogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013925 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013928 MONDO:0000477 True dystonia 23 focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013928 MONDO:0015990 True dystonia 23 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013929 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 98 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013934 MONDO:0015131 True combined immunodeficiency due to STK4 deficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013935 MONDO:0010168 True Usher syndrome type 1J Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013940 MONDO:0016575 True primary ciliary dyskinesia 18 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013944 MONDO:0019751 True autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013947 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 5 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013947 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 5 neuronopathy, distal hereditary motor, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013953 MONDO:0003778 True immunodeficiency 28 inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013954 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013955 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013956 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013957 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013959 MONDO:0018995 True Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013962 MONDO:0015150 True hereditary spastic paraplegia 53 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013963 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 93 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013964 MONDO:0015253 True Diamond-Blackfan anemia 11 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013965 MONDO:0017436 True lethal congenital contracture syndrome 4 lethal congenital contracture syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013966 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013968 MONDO:0005500 True PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013968 MONDO:0016333 True PGM1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013968 MONDO:0017740 True PGM1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013969 MONDO:0000732 True combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013970 MONDO:0006025 True branched-chain keto acid dehydrogenase kinase deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013970 MONDO:0019242 True branched-chain keto acid dehydrogenase kinase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013971 MONDO:0000732 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013971 MONDO:0019046 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013972 MONDO:0017312 True Perrault syndrome 2 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013973 MONDO:0019287 True ectodermal dysplasia 5, hair/nail type ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013974 MONDO:0019071 True ectodermal dysplasia 6, hair/nail type pure hair and nail ectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013975 MONDO:0019071 True ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013976 MONDO:0019071 True ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013977 MONDO:0000732 True combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013978 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 70 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013979 MONDO:0016575 True primary ciliary dyskinesia 19 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013984 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84B hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013985 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18B hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013986 MONDO:0000732 True combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013987 MONDO:0000732 True combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013989 MONDO:0100062 True developmental and epileptic encephalopathy, 14 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013990 MONDO:0020135 True pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013991 MONDO:0015770 True obesity due to congenital leptin deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013991 MONDO:0019182 True obesity due to congenital leptin deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013992 MONDO:0015770 True obesity due to leptin receptor gene deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013992 MONDO:0019182 True obesity due to leptin receptor gene deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013993 MONDO:0020135 True pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013994 MONDO:0018772 True Joubert syndrome 20 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013995 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 3 intrahepatic cholestasis of pregnancy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013997 MONDO:0018363 True focal facial dermal dysplasia type IV focal facial dermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013998 MONDO:0019012 True MEGF8-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014001 MONDO:0010168 True Usher syndrome type 1K Usher syndrome type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014002 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 5 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014002 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nocturnal frontal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014003 MONDO:0100062 True developmental and epileptic encephalopathy, 15 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014004 MONDO:0008947 True basal ganglia calcification, idiopathic, 4 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014005 MONDO:0002350 True immunoglobulin-mediated membranoproliferative glomerulonephritis familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014005 MONDO:0018904 True immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014006 MONDO:0015159 True Schuurs-Hoeijmakers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014006 MONDO:0100172 True Schuurs-Hoeijmakers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014007 MONDO:0018866 True Aicardi-Goutieres syndrome 6 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014012 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014013 MONDO:0017757 True maternal riboflavin deficiency disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014016 MONDO:0015150 True hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014017 MONDO:0020836 True intellectual developmental disorder with autism and macrocephaly autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014018 MONDO:0015150 True hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014019 MONDO:0015990 True dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014020 MONDO:0015150 True hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014020 MONDO:0016387 True hereditary spastic paraplegia 55 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014021 MONDO:0018319 True familial episodic pain syndrome with predominantly upper body involvement familial episodic pain syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014022 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014023 MONDO:0005500 True congenital muscular dystrophy with intellectual disability and severe epilepsy congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014023 MONDO:0017749 True congenital muscular dystrophy with intellectual disability and severe epilepsy disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014023 MONDO:0018276 True congenital muscular dystrophy with intellectual disability and severe epilepsy muscular dystrophy-dystroglycanopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014024 MONDO:0015150 True hereditary spastic paraplegia 43 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014026 MONDO:0016293 True congenital stationary night blindness 1F congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014027 MONDO:0003037 True hypotrichosis 11 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014028 MONDO:0019942 True distal arthrogryposis type 5D distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014030 MONDO:0016575 True primary ciliary dyskinesia 20 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014032 MONDO:0021004 True brachydactyly type A1C brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014033 MONDO:0000478 True dystonia 25 multifocal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014033 MONDO:0015990 True dystonia 25 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014034 MONDO:0015159 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014034 MONDO:0100172 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014035 MONDO:0015159 True severe intellectual disability-progressive spastic diplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014036 MONDO:0004975 True Alzheimer disease 17 Alzheimer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014041 MONDO:0020836 True autism, susceptibility to, 19 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014047 MONDO:0016063 True Cowden syndrome 5 Cowden disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014048 MONDO:0016063 True Cowden syndrome 6 Cowden disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014049 MONDO:0000463 True urofacial syndrome 2 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014050 MONDO:0000062 True isolated microphthalmia 8 isolated microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014051 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014054 MONDO:0016537 True lymphoproliferative syndrome 2 lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014055 MONDO:0000160 True epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014056 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 9 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014057 MONDO:0009563 True maple syrup urine disease, mild variant maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014059 MONDO:0000170 True microphthalmia, isolated, with coloboma 9 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014060 MONDO:0019118 True progressive retinal dystrophy due to retinol transport defect inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014062 MONDO:0000090 True mitochondrial DNA deletion syndrome with progressive myopathy progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014063 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 2 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014064 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 3 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014065 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 4 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014066 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 5 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014067 MONDO:0015159 True short ulna-dysmorphism-hypotonia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014068 MONDO:0015993 True cone-rod dystrophy 17 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014069 MONDO:0019054 True syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014070 MONDO:0018910 True oculocutaneous albinism type 7 oculocutaneous albinism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014071 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014072 MONDO:0016001 True D,L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014073 MONDO:0016333 True dilated cardiomyopathy 1II familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014074 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014076 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 5 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014077 MONDO:0018869 True cobblestone lissencephaly without muscular or ocular involvement cobblestone lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014079 MONDO:0100170 True restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014080 MONDO:0017198 True osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014081 MONDO:0044201 True severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014082 MONDO:0021094 True cryptosporidiosis-chronic cholangitis-liver disease syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014084 MONDO:0015244 True ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014085 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 2 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014089 MONDO:0017666 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014089 MONDO:0020212 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0000104 True severe congenital hypochromic anemia with ringed sideroblasts anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0016624 True severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014094 MONDO:0020099 True severe congenital hypochromic anemia with ringed sideroblasts inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014095 MONDO:0016333 True dilated cardiomyopathy 1JJ familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014098 MONDO:0020088 True CIDEC-related familial partial lipodystrophy familial partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014100 MONDO:0016333 True dilated cardiomyopathy 1KK familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014100 MONDO:0016340 True dilated cardiomyopathy 1KK familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014100 MONDO:0024573 True dilated cardiomyopathy 1KK familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014101 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014104 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014114 MONDO:0015280 True cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014115 MONDO:0019046 True hypomyelination with brain stem and spinal cord involvement and leg spasticity leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014116 MONDO:0000904 True complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014117 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014119 MONDO:0003847 True intellectual disability-strabismus syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014120 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014121 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures autosomal dominant childhood-onset proximal spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014122 MONDO:0016824 True myofibromatosis, infantile, 2 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014123 MONDO:0016575 True primary ciliary dyskinesia 21 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014124 MONDO:0007034 True Adams-Oliver syndrome 4 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014126 MONDO:0017312 True Perrault syndrome 4 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014131 MONDO:0017666 True hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014134 MONDO:0017148 True pulmonary hypertension, primary, 2 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014135 MONDO:0017148 True pulmonary hypertension, primary, 3 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014136 MONDO:0017148 True pulmonary hypertension, primary, 4 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014137 MONDO:0019165 True precocious puberty, central, 2 central precocious puberty SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014140 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014141 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014142 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2T muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014142 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014143 MONDO:0018997 True Noonan syndrome 8 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014144 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014145 MONDO:0018998 True Leber congenital amaurosis 17 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014146 MONDO:0018543 True autosomal dominant hypocalcemia 2 autosomal dominant hypocalcemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014149 MONDO:0017436 True fetal akinesia-cerebral and retinal hemorrhage syndrome lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014149 MONDO:0019952 True fetal akinesia-cerebral and retinal hemorrhage syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014152 MONDO:0018901 True left ventricular noncompaction 8 left ventricular noncompaction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014153 MONDO:0015993 True cone-rod dystrophy 18 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014154 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate C autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014155 MONDO:0018054 True atrial fibrillation, familial, 13 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014156 MONDO:0018054 True atrial fibrillation, familial, 14 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014157 MONDO:0019303 True mandibular hypoplasia-deafness-progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014158 MONDO:0019005 True nephronophthisis 16 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014159 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 14 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014160 MONDO:0018814 True TCR-alpha-beta-positive T-cell deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014161 MONDO:0017329 True vesicoureteral reflux 7 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014162 MONDO:0000732 True infantile hypertrophic cardiomyopathy due to MRPL44 deficiency combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014163 MONDO:0018901 True left ventricular noncompaction 10 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014164 MONDO:0018921 True Meckel syndrome, type 11 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 3 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014165 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014166 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014167 MONDO:0000160 True epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014168 MONDO:0044200 True severe combined immunodeficiency due to CORO1A deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014169 MONDO:0000736 True dyschromatosis universalis hereditaria 3 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014170 MONDO:0000904 True complex cortical dysplasia with other brain malformations 3 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014171 MONDO:0000904 True complex cortical dysplasia with other brain malformations 4 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014172 MONDO:0004983 True spermatogenic failure 12 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014173 MONDO:0016660 True microcephaly 11, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014174 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014175 MONDO:0018158 True mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014176 MONDO:0015159 True hypotonia, infantile, with psychomotor retardation and characteristic facies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014176 MONDO:0024237 True hypotonia, infantile, with psychomotor retardation and characteristic facies inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014177 MONDO:0001384 True myopia 22, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014178 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with Paget disease of bone and frontotemporal dementia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014179 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with Paget disease of bone and frontotemporal dementia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014180 MONDO:0017610 True epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014181 MONDO:0005144 True amyotrophic lateral sclerosis type 20 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014182 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 88 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014183 MONDO:0001384 True myopia 23, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014184 MONDO:0000724 True specific language impairment 5 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014185 MONDO:0016902 True chromosome 3q13.31 deletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014186 MONDO:0019200 True retinitis pigmentosa with or without situs inversus retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014187 MONDO:0019625 True aortic aneurysm, familial thoracic 8 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014190 MONDO:0000732 True combined oxidative phosphorylation defect type 17 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014191 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014192 MONDO:0016575 True primary ciliary dyskinesia 22 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014193 MONDO:0016575 True primary ciliary dyskinesia 23 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014194 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 6 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014196 MONDO:0015159 True Hartsfield-Bixler-Demyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014197 MONDO:0021094 True combined immunodeficiency due to MALT1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014198 MONDO:0016796 True mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014199 MONDO:0100062 True developmental and epileptic encephalopathy, 17 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014200 MONDO:0016525 True aldosterone-producing adenoma with seizures and neurological abnormalities familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014201 MONDO:0100062 True developmental and epileptic encephalopathy, 18 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014202 MONDO:0016575 True primary ciliary dyskinesia 24 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014203 MONDO:0016575 True primary ciliary dyskinesia 25 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014204 MONDO:0008947 True basal ganglia calcification, idiopathic, 5 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014205 MONDO:0003847 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014205 MONDO:0015159 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014207 MONDO:0005150 True age related macular degeneration 14 age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014208 MONDO:0018993 True Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014209 MONDO:0019064 True early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014210 MONDO:0003847 True intellectual disability-hypotonia-spasticity-sleep disorder syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014211 MONDO:0016575 True primary ciliary dyskinesia 26 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014212 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type C sulfite oxidase deficiency due to molybdenum cofactor deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014213 MONDO:0015159 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014213 MONDO:0100172 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014214 MONDO:0018770 True short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014215 MONDO:0016575 True primary ciliary dyskinesia 27 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014216 MONDO:0016575 True primary ciliary dyskinesia 28 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014217 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 5 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014219 MONDO:0006025 True alacrima, achalasia, and intellectual disability syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0002908 True triosephosphate isomerase deficiency glucose metabolism disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0017688 True triosephosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014223 MONDO:0005144 True amyotrophic lateral sclerosis type 19 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014225 MONDO:0006507 True hemochromatosis type 5 hereditary hemochromatosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014226 MONDO:0021094 True idiopathic CD4 lymphocytopenia immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014228 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 8 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014229 MONDO:0016073 True microphthalmia, syndromic 12 syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014230 MONDO:0015279 True candidiasis, familial, 8 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014233 MONDO:0017279 True early-onset Parkinson disease 20 young-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014234 MONDO:0000118 True reticulate acropigmentation of Kitamura reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014234 MONDO:0019289 True reticulate acropigmentation of Kitamura hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014237 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 76 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014238 MONDO:0003847 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014238 MONDO:0015159 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014240 MONDO:0020341 True periventricular nodular heterotopia 6 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014242 MONDO:0017813 True van Maldergem syndrome 2 van Maldergem syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014244 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014245 MONDO:0015253 True Diamond-Blackfan anemia 12 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014246 MONDO:0018319 True episodic pain syndrome, familial, 2 familial episodic pain syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014247 MONDO:0018319 True familial episodic pain syndrome with predominantly lower limb involvement familial episodic pain syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0015327 True autism spectrum disorder - epilepsy - arthrogryposis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0017740 True autism spectrum disorder - epilepsy - arthrogryposis syndrome disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014248 MONDO:0019942 True autism spectrum disorder - epilepsy - arthrogryposis syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014252 MONDO:0017774 True familial hypobetalipoproteinemia 1 hypobetalipoproteinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014254 MONDO:0008163 True otofaciocervical syndrome 2 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014256 MONDO:0019200 True retinitis pigmentosa 67 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014258 MONDO:0019052 True congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014260 MONDO:0015517 True immunodeficiency, common variable, 10 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014261 MONDO:0000732 True growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014262 MONDO:0018954 True Rienhoff syndrome Loeys-Dietz syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014263 MONDO:0015159 True 8q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014263 MONDO:0016907 True 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014264 MONDO:0005349 True otosclerosis 10 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014265 MONDO:0004975 True Alzheimer disease 18 Alzheimer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014267 MONDO:0044201 True severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014268 MONDO:0021094 True combined immunodeficiency due to OX40 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014270 MONDO:0017740 True STT3A-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014271 MONDO:0005500 True STT3B-congenital disorder of glycosylation congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014271 MONDO:0017740 True STT3B-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014272 MONDO:0017666 True palmoplantar keratoderma, Nagashima type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014273 MONDO:0003847 True microcephaly-thin corpus callosum-intellectual disability syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014273 MONDO:0015159 True microcephaly-thin corpus callosum-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014274 MONDO:0005570 True L-ferritin deficiency hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014276 MONDO:0021094 True combined immunodeficiency due to CD3gamma deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014277 MONDO:0000158 True developmental dysplasia of the hip 2 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014278 MONDO:0031520 True immunodeficiency 18 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014280 MONDO:0031520 True immunodeficiency 19 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014282 MONDO:0015149 True hereditary spastic paraplegia 72 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014283 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014284 MONDO:0018770 True short-rib thoracic dysplasia 10 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014285 MONDO:0020337 True congenital dyserythropoietic anemia type type 1B congenital dyserythropoietic anemia type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014286 MONDO:0018213 True neuropathy, hereditary sensory, type 1F hereditary sensory and autonomic neuropathy type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014287 MONDO:0018770 True short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014288 MONDO:0018772 True Joubert syndrome 21 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014289 MONDO:0003847 True macrocephaly-developmental delay syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014289 MONDO:0015159 True macrocephaly-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014290 MONDO:0018307 True neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014291 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014292 MONDO:0019046 True leukoencephalopathy with mild cerebellar ataxia and white matter edema leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014293 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014294 MONDO:0016913 True chromosome 15q11.2 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014295 MONDO:0015150 True hereditary spastic paraplegia 57 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014298 MONDO:0015159 True chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014299 MONDO:0008075 True schwannomatosis 2 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014300 MONDO:0005336 True proximal myopathy with extrapyramidal signs myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014302 MONDO:0015149 True hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014303 MONDO:0015150 True hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014304 MONDO:0015150 True hereditary spastic paraplegia 61 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014305 MONDO:0015150 True hereditary spastic paraplegia 63 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014306 MONDO:0018882 True vasculitis due to ADA2 deficiency vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014308 MONDO:0005115 True familial temporal lobe epilepsy 6 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014309 MONDO:0019182 True obesity due to CEP19 deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014310 MONDO:0016382 True hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014311 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014312 MONDO:0000107 True auriculocondylar syndrome 3 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014313 MONDO:0003778 True autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014314 MONDO:0018075 True sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014316 MONDO:0004975 True Alzheimer disease 19 Alzheimer disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014317 MONDO:0000159 True pancytopenia-developmental delay syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014317 MONDO:0001713 True pancytopenia-developmental delay syndrome inherited aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014318 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 4 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014319 MONDO:0018470 True renal hypodysplasia/aplasia 2 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014320 MONDO:0003847 True Bosch-Boonstra-Schaaf optic atrophy syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014321 MONDO:0019852 True premature ovarian failure 8 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014322 MONDO:0019852 True premature ovarian failure 9 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014323 MONDO:0019200 True retinitis pigmentosa 68 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014324 MONDO:0016471 True pachyonychia congenita 3 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014325 MONDO:0016471 True pachyonychia congenita 4 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014327 MONDO:0019272 True palmoplantar keratoderma, nonepidermolytic, focal or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014328 MONDO:0100062 True developmental and epileptic encephalopathy, 19 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014331 MONDO:0016820 True Moyamoya disease with early-onset achalasia Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014332 MONDO:0019225 True hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014334 MONDO:0017855 True severe combined immunodeficiency due to LCK deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014336 MONDO:0000426 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014336 MONDO:0015159 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014337 MONDO:0000904 True complex cortical dysplasia with other brain malformations 5 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014338 MONDO:0015517 True IL21-related infantile inflammatory bowel disease common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014339 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 16 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014340 MONDO:0018054 True atrial fibrillation, familial, 15 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014341 MONDO:0000904 True complex cortical dysplasia with other brain malformations 6 complex cortical dysplasia with other brain malformations SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014342 MONDO:0014769 True female infertility due to zona pellucida defect inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014343 MONDO:0015426 True Desbuquois dysplasia 2 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014345 MONDO:0019200 True retinitis pigmentosa 69 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014346 MONDO:0015748 True white sponge nevus 2 hereditary mucosal leukokeratosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014349 MONDO:0020135 True pontocerebellar hypoplasia type 10 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014350 MONDO:0019342 True Seckel syndrome 8 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014351 MONDO:0020135 True pontocerebellar hypoplasia type 9 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014353 MONDO:0017749 True immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014353 MONDO:0021094 True immunodeficiency 23 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014356 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014357 MONDO:0100172 True intellectual disability, autosomal dominant 24 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014359 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 4 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014361 MONDO:0015159 True autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014361 MONDO:0100172 True autism spectrum disorder due to AUTS2 deficiency intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014364 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 8 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014365 MONDO:0004983 True spermatogenic failure 13 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014366 MONDO:0004983 True spermatogenic failure 14 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014367 MONDO:0018866 True Aicardi-Goutieres syndrome 7 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014368 MONDO:0024462 True tumor predisposition syndrome 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0000426 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0002254 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0018234 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0018762 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014369 MONDO:0019054 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014370 MONDO:0020135 True pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014371 MONDO:0015159 True developmental and epileptic encephalopathy, 23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014371 MONDO:0100062 True developmental and epileptic encephalopathy, 23 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014372 MONDO:0015993 True cone-rod dystrophy 19 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014374 MONDO:0019005 True nephronophthisis 18 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014375 MONDO:0000824 True congenital diarrhea 7 with exudative enteropathy congenital diarrhea SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014376 MONDO:0000426 True intellectual disability, autosomal dominant 27 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014376 MONDO:0015452 True intellectual disability, autosomal dominant 27 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014378 MONDO:0016575 True primary ciliary dyskinesia 29 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014379 MONDO:0015159 True ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014380 MONDO:0016073 True colobomatous microphthalmia-rhizomelic dysplasia syndrome syndromic microphthalmia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014380 MONDO:0018230 True colobomatous microphthalmia-rhizomelic dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014381 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 4 progressive familial intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014382 MONDO:0015159 True Tatton-Brown-Rahman overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014383 MONDO:0008051 True myopathy, tubular aggregate, 2 tubular aggregate myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014384 MONDO:0003037 True hypotrichosis 12 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014386 MONDO:0000009 True platelet-type bleeding disorder 18 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014386 MONDO:0021181 True platelet-type bleeding disorder 18 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014388 MONDO:0000358 True familial median cleft of the upper and lower lips orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014389 MONDO:0000192 True polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014389 MONDO:0002412 True polyglucosan body myopathy 1 with or without immunodeficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014390 MONDO:0003037 True hypotrichosis 13 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014391 MONDO:0044201 True severe combined immunodeficiency due to CTPS1 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014393 MONDO:0019313 True lymphatic malformation 4 lymphatic malformation SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014394 MONDO:0015253 True Diamond-Blackfan anemia 13 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014395 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014395 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014396 MONDO:0016333 True dilated cardiomyopathy 1NN familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014397 MONDO:0000732 True combined oxidative phosphorylation defect type 20 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014398 MONDO:0000732 True combined oxidative phosphorylation defect type 21 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014399 MONDO:0011457 True ataxia-telangiectasia-like disorder 2 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014400 MONDO:0019200 True retinitis pigmentosa 70 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014401 MONDO:0018230 True tall stature-scoliosis-macrodactyly of the great toes syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014402 MONDO:0020087 True severe neurodegenerative syndrome with lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014402 MONDO:0024237 True severe neurodegenerative syndrome with lipodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014403 MONDO:0019824 True short stature due to GHSR deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014405 MONDO:0019751 True STING-associated vasculopathy with onset in infancy autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014406 MONDO:0009832 True pancreatic agenesis 2 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014407 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014408 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014409 MONDO:0019502 True intellectual disability, autosomal recessive 44 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014410 MONDO:0019792 True spinocerebellar ataxia type 37 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014411 MONDO:0001384 True myopia 24, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0001336 True hyperlipoproteinemia, type 1D familial hyperlipidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0006025 True hyperlipoproteinemia, type 1D autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0018637 True hyperlipoproteinemia, type 1D familial chylomicronemia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014413 MONDO:0015159 True orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014414 MONDO:0000213 True STAT3-related early-onset multisystem autoimmune disease autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014416 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014417 MONDO:0018117 True spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014417 MONDO:0019793 True spinocerebellar ataxia type 38 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014418 MONDO:0015705 True myopathy, centronuclear, 5 autosomal recessive centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014419 MONDO:0020022 True ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014420 MONDO:0015892 True short stature due to primary acid-labile subunit deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014421 MONDO:0015898 True glucocorticoid resistance adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014422 MONDO:0017329 True vesicoureteral reflux 8 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014423 MONDO:0017855 True severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014426 MONDO:0005514 True nanophthalmos 4 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014427 MONDO:0015993 True cone-rod dystrophy 20 cone-rod dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014428 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 102 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014429 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014430 MONDO:0019502 True intellectual disability, autosomal recessive 45 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014431 MONDO:0020088 True LIPE-related familial partial lipodystrophy familial partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014432 MONDO:0015229 True Bardet-Biedl syndrome 2 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014433 MONDO:0015229 True Bardet-Biedl syndrome 4 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014434 MONDO:0015229 True Bardet-Biedl syndrome 5 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014435 MONDO:0015229 True Bardet-Biedl syndrome 7 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014436 MONDO:0015229 True Bardet-Biedl syndrome 8 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014437 MONDO:0015229 True Bardet-Biedl syndrome 9 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014438 MONDO:0015229 True Bardet-Biedl syndrome 10 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014439 MONDO:0015229 True Bardet-Biedl syndrome 11 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014440 MONDO:0015229 True Bardet-Biedl syndrome 12 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014441 MONDO:0015229 True Bardet-Biedl syndrome 13 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014442 MONDO:0015229 True Bardet-Biedl syndrome 14 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014443 MONDO:0015229 True Bardet-Biedl syndrome 15 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014444 MONDO:0015229 True Bardet-Biedl syndrome 16 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014445 MONDO:0015229 True Bardet-Biedl syndrome 17 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014446 MONDO:0015229 True Bardet-Biedl syndrome 18 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014447 MONDO:0015229 True Bardet-Biedl syndrome 19 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014450 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 2 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014451 MONDO:0005363 True focal segmental glomerulosclerosis 7 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014452 MONDO:0018060 True familial dysfibrinogenemia congenital fibrinogen deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014454 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 2 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0015514 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0016387 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014455 MONDO:0020127 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014456 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to JAGN1 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014457 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 5 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014458 MONDO:0100238 True Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014459 MONDO:0007034 True Adams-Oliver syndrome 5 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0017672 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0019287 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014460 MONDO:0019289 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014462 MONDO:0005363 True focal segmental glomerulosclerosis 8 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014464 MONDO:0018117 True progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014464 MONDO:0019046 True progressive encephalopathy with leukodystrophy due to DECR deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014465 MONDO:0016575 True primary ciliary dyskinesia 30 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014466 MONDO:0000179 True Neu-Laxova syndrome 2 Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014467 MONDO:0016387 True Charcot-Marie-Tooth disease recessive intermediate D mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014467 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate D autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014468 MONDO:0018940 True congenital myasthenic syndrome 7 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014469 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 103 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014470 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014472 MONDO:0017953 True periodic fever-infantile enterocolitis-autoinflammatory syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014473 MONDO:0016660 True microcephaly 13, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014474 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2U muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014474 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014475 MONDO:0019792 True spinocerebellar ataxia type 40 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014478 MONDO:0016558 True mirror movements 3 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014481 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 2 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014482 MONDO:0000426 True intellectual disability, autosomal dominant 29 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014483 MONDO:0019118 True retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014485 MONDO:0016396 True pontocerebellar hypoplasia, type 1C pontocerebellar hypoplasia type 1 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014486 MONDO:0000426 True intellectual disability, autosomal dominant 30 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014487 MONDO:0020099 True congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014489 MONDO:0000173 True limb-girdle muscular dystrophy due to POMK deficiency muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014489 MONDO:0015152 True limb-girdle muscular dystrophy due to POMK deficiency autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014489 MONDO:0016155 True limb-girdle muscular dystrophy due to POMK deficiency qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014490 MONDO:0019223 True ketoacidosis due to monocarboxylate transporter-1 deficiency disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014491 MONDO:0003778 True immunodeficiency 37 inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014492 MONDO:0017672 True wooly hair-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014496 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 9 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014497 MONDO:0015770 True polyendocrine-polyneuropathy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014498 MONDO:0018768 True familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014499 MONDO:0019502 True intellectual disability, autosomal recessive 46 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014502 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014503 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 17 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014504 MONDO:0017312 True Perrault syndrome 5 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014505 MONDO:0100062 True developmental and epileptic encephalopathy, 27 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014506 MONDO:0019046 True hypomyelinating leukodystrophy 9 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014507 MONDO:0015159 True Catel-Manzke syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014510 MONDO:0019701 True fatty acyl-CoA reductase 1 deficiency chondrodysplasia punctata SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014511 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014512 MONDO:0000426 True PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014514 MONDO:0019625 True aortic aneurysm, familial thoracic 9 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014516 MONDO:0000181 True microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014516 MONDO:0006025 True microcephaly and chorioretinopathy 2 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014517 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014518 MONDO:0000009 True platelet-type bleeding disorder 19 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014520 MONDO:0019852 True 46,XX ovarian dysgenesis-short stature syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014521 MONDO:0020074 True progressive myoclonic epilepsy type 7 progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014523 MONDO:0100309 True juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014524 MONDO:0019502 True intellectual disability, autosomal recessive 47 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014525 MONDO:0000732 True combined oxidative phosphorylation defect type 23 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014526 MONDO:0000192 True polyglucosan body myopathy type 2 polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014527 MONDO:0015356 True progeroid features-hepatocellular carcinoma predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014528 MONDO:0002254 True chronic atrial and intestinal dysrhythmia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014529 MONDO:0003847 True cerebellar-facial-dental syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014529 MONDO:0015159 True cerebellar-facial-dental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014529 MONDO:0020022 True cerebellar-facial-dental syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014530 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014531 MONDO:0005144 True amyotrophic lateral sclerosis type 22 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0009637 True autosomal dominant mitochondrial myopathy with exercise intolerance inborn mitochondrial myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0016387 True autosomal dominant mitochondrial myopathy with exercise intolerance mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014532 MONDO:0020123 True autosomal dominant mitochondrial myopathy with exercise intolerance metabolic myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014534 MONDO:0015204 True lissencephaly 6 with microcephaly microlissencephaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014536 MONDO:0100241 True thrombocytopenia 5 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014537 MONDO:0019005 True nephronophthisis 19 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014538 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 5 congenital fibrosis of extraocular muscles SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014539 MONDO:0005363 True focal segmental glomerulosclerosis 9 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014541 MONDO:0002254 True motor developmental delay due to 14q32.2 paternally expressed gene defect syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014542 MONDO:0018940 True congenital myasthenic syndrome 15 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014543 MONDO:0000182 True congenital myasthenic syndrome 14 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014545 MONDO:0018117 True progressive myoclonic epilepsy type 8 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014545 MONDO:0020074 True progressive myoclonic epilepsy type 8 progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014546 MONDO:0016199 True myopathy due to calsequestrin and SERCA1 protein overload qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014547 MONDO:0000732 True combined oxidative phosphorylation defect type 24 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014548 MONDO:0019171 True long QT syndrome 14 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014549 MONDO:0017436 True lethal congenital contracture syndrome 6 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014550 MONDO:0019171 True long QT syndrome 15 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0015168 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0018921 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014552 MONDO:0020022 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014555 MONDO:0010033 True peeling skin syndrome type A generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014556 MONDO:0003847 True congenital contractures of the limbs and face, hypotonia, and developmental delay hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0020047 True ataxia - oculomotor apraxia type 4 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0020127 True ataxia - oculomotor apraxia type 4 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014557 MONDO:0044807 True ataxia - oculomotor apraxia type 4 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0015159 True autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014566 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014567 MONDO:0015150 True glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014568 MONDO:0015149 True hereditary spastic paraplegia 73 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014569 MONDO:0017436 True lethal congenital contracture syndrome 7 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014570 MONDO:0017436 True lethal congenital contracture syndrome 8 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014571 MONDO:0043878 True optic atrophy 9 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014572 MONDO:0015244 True Lichtenstein-Knorr syndrome autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014573 MONDO:0016085 True Cole-Carpenter syndrome 2 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014575 MONDO:0008429 True Singleton-Merten syndrome 2 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014576 MONDO:0018424 True lipoyl transferase 1 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014577 MONDO:0018770 True short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014579 MONDO:0017842 True Senior-Loken syndrome 8 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014580 MONDO:0015802 True intellectual disability, autosomal dominant 33 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014589 MONDO:0018911 True maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014590 MONDO:0018940 True congenital myasthenic syndrome 18 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014592 MONDO:0000181 True microcephaly and chorioretinopathy 3 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014597 MONDO:0003778 True immunodeficiency 39 inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014599 MONDO:0015802 True intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014601 MONDO:0015159 True autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014601 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 20 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014601 MONDO:0020022 True autosomal recessive spinocerebellar ataxia 20 central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014602 MONDO:0015159 True intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014603 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014604 MONDO:0008199 True Parkinson disease 21 late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014605 MONDO:0000426 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014605 MONDO:0015159 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014606 MONDO:0015159 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014606 MONDO:0100172 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0002254 True mandibulofacial dysostosis with alopecia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0015483 True mandibulofacial dysostosis with alopecia mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0018234 True mandibulofacial dysostosis with alopecia dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0018751 True mandibulofacial dysostosis with alopecia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014609 MONDO:0015159 True cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014611 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 4 fatal multiple mitochondrial dysfunctions syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014611 MONDO:0019046 True multiple mitochondrial dysfunctions syndrome 4 leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014612 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014613 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014614 MONDO:0006025 True congenital stationary night blindness 1G autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014614 MONDO:0016293 True congenital stationary night blindness 1G congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014615 MONDO:0002470 True trichothiodystrophy 2, photosensitive photosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014617 MONDO:0100172 True intellectual disability, autosomal dominant 38 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014618 MONDO:0019200 True retinitis pigmentosa 71 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014619 MONDO:0002470 True trichothiodystrophy 3, photosensitive photosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014620 MONDO:0000903 True myoclonic dystonia 26 myoclonus-dystonia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014621 MONDO:0015263 True Brugada syndrome 9 Brugada syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014622 MONDO:0017672 True isolated focal non-epidermolytic palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014623 MONDO:0016660 True microcephaly 14, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014624 MONDO:0004753 True Brown syndrome mechanical strabismus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014626 MONDO:0019793 True spinocerebellar ataxia type 41 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014627 MONDO:0000479 True dystonia 27 segmental dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014627 MONDO:0015990 True dystonia 27 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014628 MONDO:0008947 True basal ganglia calcification, idiopathic, 6 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014629 MONDO:0003847 True autoimmune interstitial lung disease-arthritis syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014630 MONDO:0016362 True familial adenomatous polyposis 3 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014630 MONDO:0021055 True familial adenomatous polyposis 3 classic familial adenomatous polyposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014632 MONDO:0019046 True hypomyelinating leukodystrophy 10 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014634 MONDO:0010765 True 46,XY sex reversal 10 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014635 MONDO:0000170 True microphthalmia, isolated, with coloboma 10 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014636 MONDO:0000732 True combined oxidative phosphorylation defect type 25 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014637 MONDO:0021094 True DOCK2 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014638 MONDO:0019391 True Fanconi anemia complementation group T Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014639 MONDO:0005115 True familial temporal lobe epilepsy 7 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014640 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014640 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014641 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014641 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014642 MONDO:0015279 True candidiasis, familial, 9 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014643 MONDO:0015159 True congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014644 MONDO:0015150 True hereditary spastic paraplegia 74 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014645 MONDO:0003778 True BENTA disease inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014646 MONDO:0000200 True Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0017749 True developmental and epileptic encephalopathy, 50 disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0019238 True developmental and epileptic encephalopathy, 50 inborn disorder of pyrimidine metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0100062 True developmental and epileptic encephalopathy, 50 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014649 MONDO:0019502 True intellectual disability, autosomal recessive 50 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014651 MONDO:0018237 True acrofacial dysostosis Cincinnati type acrofacial dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014656 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014658 MONDO:0000426 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014658 MONDO:0019685 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014659 MONDO:0000023 True infantile liver failure syndrome 2 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014660 MONDO:0016660 True microcephaly 15, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014661 MONDO:0017610 True epidermolysis bullosa simplex with nail dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis syndrome hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014663 MONDO:0008394 True Silver-Russell syndrome 3 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014665 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014667 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014668 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014669 MONDO:0015993 True cone-rod dystrophy 21 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014670 MONDO:0017436 True lethal congenital contracture syndrome 9 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014674 MONDO:0018911 True maturity-onset diabetes of the young type 14 maturity-onset diabetes of the young SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014675 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 104 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014676 MONDO:0016830 True Emery-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014677 MONDO:0018852 True achromatopsia 7 achromatopsia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014678 MONDO:0100172 True intellectual disability, autosomal dominant 39 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014683 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014684 MONDO:0000732 True combined oxidative phosphorylation defect type 26 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014685 MONDO:0020074 True progressive myoclonic epilepsy type 9 progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014687 MONDO:0019200 True retinitis pigmentosa 73 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014688 MONDO:0018770 True short-rib thoracic dysplasia 14 with polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014689 MONDO:0001029 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014689 MONDO:0019952 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014690 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 6 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014690 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014691 MONDO:0018997 True Noonan syndrome 9 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014692 MONDO:0019200 True retinitis pigmentosa 74 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014693 MONDO:0018997 True Noonan syndrome 10 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014696 MONDO:0008926 True cerebrooculofacioskeletal syndrome 3 COFS syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014697 MONDO:0015517 True immunodeficiency, common variable, 12 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014700 MONDO:0018681 True Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014701 MONDO:0016761 True spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014701 MONDO:0022800 True spondyloepiphyseal dysplasia, Stanescu type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014702 MONDO:0015150 True autosomal recessive complex spastic paraplegia type 9B complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014703 MONDO:0007034 True Adams-Oliver syndrome 6 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014704 MONDO:0018230 True skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014706 MONDO:0019571 True cutis laxa, autosomal dominant 3 autosomal dominant cutis laxa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014707 MONDO:0016964 True 14q32 duplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014710 MONDO:0019146 True autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014711 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014712 MONDO:0017842 True Senior-Loken syndrome 9 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014715 MONDO:0003778 True primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014716 MONDO:0015159 True macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014717 MONDO:0020074 True early-onset Lafora body disease progressive myoclonus epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0019236 True developmental and epileptic encephalopathy, 35 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0024237 True developmental and epileptic encephalopathy, 35 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014719 MONDO:0100062 True developmental and epileptic encephalopathy, 35 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014720 MONDO:0020250 True autosomal dominant optic atrophy plus syndrome autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014723 MONDO:0016967 True PMP22-RAI1 contiguous gene duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014724 MONDO:0018772 True Joubert syndrome 24 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014725 MONDO:0018162 True spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014726 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014727 MONDO:0021094 True immunodeficiency 45 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014728 MONDO:0000732 True combined oxidative phosphorylation defect type 27 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014729 MONDO:0015150 True hereditary spastic paraplegia 75 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014730 MONDO:0016660 True microcephaly 16, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014731 MONDO:0015286 True seizures-scoliosis-macrocephaly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014732 MONDO:0019046 True hypomyelinating leukodystrophy 12 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014733 MONDO:0016387 True Charcot-Marie-Tooth disease type 4K mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014733 MONDO:0018995 True Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 4 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014735 MONDO:0018993 True Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014736 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014737 MONDO:0017910 True dehydrated hereditary stomatocytosis 2 dehydrated hereditary stomatocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014738 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014739 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 97 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014740 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014741 MONDO:0018760 True DeSanto-Shinawi syndrome due to WAC point mutation DeSanto-Shinawi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014742 MONDO:0008199 True Parkinson disease 22, autosomal dominant late-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014744 MONDO:0020047 True acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0005501 True SLC39A8-CDG congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0015159 True SLC39A8-CDG multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0017740 True SLC39A8-CDG disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0020022 True SLC39A8-CDG central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014748 MONDO:0015159 True progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014749 MONDO:0005486 True tooth agenesis, selective, 7 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014750 MONDO:0016575 True primary ciliary dyskinesia 33 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014751 MONDO:0015159 True palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014754 MONDO:0018151 True primary coenzyme Q10 deficiency 8 coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014755 MONDO:0007990 True skin creases, congenital symmetric circumferential, 2 multiple benign circumferential skin creases on limbs SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014756 MONDO:0003233 True tremor, hereditary essential, 5 essential tremor SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014757 MONDO:0015159 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014757 MONDO:0018795 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014758 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014759 MONDO:0019502 True intellectual disability, autosomal recessive 51 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014760 MONDO:0021094 True TFRC-related combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014762 MONDO:0018677 True heterotaxy, visceral, 7, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015150 True spastic paraplegia-severe developmental delay-epilepsy syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015159 True spastic paraplegia-severe developmental delay-epilepsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014764 MONDO:0015653 True spastic paraplegia-severe developmental delay-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014765 MONDO:0003847 True wooly hair, autosomal recessive 3 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014765 MONDO:0008686 True wooly hair, autosomal recessive 3 isolated familial wooly hair disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014767 MONDO:0019342 True Seckel syndrome 9 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014768 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014770 MONDO:0018772 True Joubert syndrome 25 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014771 MONDO:0018772 True Joubert syndrome 26 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014773 MONDO:0015159 True cardiac anomalies - developmental delay - facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014775 MONDO:0000732 True combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014775 MONDO:0016801 True combined oxidative phosphorylation deficiency 28 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014776 MONDO:0019793 True spinocerebellar ataxia type 42 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014777 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014779 MONDO:0003321 True Wilms tumor 6 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014780 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 6 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014781 MONDO:0000732 True combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014781 MONDO:0006025 True combined oxidative phosphorylation deficiency 29 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014781 MONDO:0024237 True combined oxidative phosphorylation deficiency 29 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014782 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2X autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014784 MONDO:0019952 True severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014785 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014787 MONDO:0015159 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014787 MONDO:0020022 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014788 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2W autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014789 MONDO:0005501 True CCDC115-CDG congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014789 MONDO:0017749 True CCDC115-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014790 MONDO:0005501 True TMEM199-CDG congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014790 MONDO:0017749 True TMEM199-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014792 MONDO:0005382 True Paget disease of bone 6 bone Paget disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014793 MONDO:0019240 True microcephaly-congenital cataract-psoriasiform dermatitis syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014794 MONDO:0016817 True Meier-Gorlin syndrome 6 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014796 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 23 young-onset Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014797 MONDO:0019313 True lymphatic malformation 6 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014798 MONDO:0021004 True brachydactyly type A1D brachydactyly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014800 MONDO:0016106 True progressive scapulohumeroperoneal distal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014801 MONDO:0015161 True even-plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014802 MONDO:0016063 True Cowden syndrome 7 Cowden disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014803 MONDO:0017845 True spasticity-ataxia-gait anomalies syndrome spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014803 MONDO:0018424 True spasticity-ataxia-gait anomalies syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014804 MONDO:0016801 True sideroblastic anemia 3 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014806 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 1 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014807 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 2 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014809 MONDO:0015356 True DDX41-related hematologic malignancy predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014810 MONDO:0015517 True pancytopenia due to IKZF1 mutations common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014813 MONDO:0019046 True hypomyelinating leukodystrophy 13 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014814 MONDO:0015609 True advanced sleep phase syndrome 3 advanced sleep phase syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014815 MONDO:0019502 True intellectual disability, autosomal recessive 52 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0015161 True split-foot malformation-mesoaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0018234 True split-foot malformation-mesoaxial polydactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014816 MONDO:0019054 True split-foot malformation-mesoaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014820 MONDO:0018158 True mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014821 MONDO:0018230 True complex lethal osteochondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014822 MONDO:0016913 True 15q14 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014823 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014827 MONDO:0015150 True autosomal recessive spastic paraplegia type 76 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014828 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014829 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014830 MONDO:0000009 True platelet-type bleeding disorder 20 inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014832 MONDO:0017748 True intellectual disability, autosomal recessive 53 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014835 MONDO:0000211 True striatal degeneration, autosomal dominant 2 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014836 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014837 MONDO:0018795 True thrombocytopenia 6 syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014837 MONDO:0020076 True thrombocytopenia 6 myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014838 MONDO:0015452 True Coffin-Siris syndrome 5 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014841 MONDO:0018053 True trichothiodystrophy 6, nonphotosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014842 MONDO:0015802 True intellectual disability, autosomal dominant 41 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014843 MONDO:0019852 True premature ovarian failure 11 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014844 MONDO:0019852 True premature ovarian failure 12 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014845 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 22 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014846 MONDO:0018446 True spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014847 MONDO:0004983 True spermatogenic failure 15 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014848 MONDO:0015159 True TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014851 MONDO:0000212 True hypercalcemia, infantile, 2 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014855 MONDO:0015802 True intellectual disability, autosomal dominant 42 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014860 MONDO:0000447 True polycystic liver disease 2 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014861 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014864 MONDO:0017766 True hypermanganesemia with dystonia 2 disorder of manganese transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014865 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CSF3R deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014866 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014867 MONDO:0020380 True spinocerebellar ataxia 43 autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014868 MONDO:0100062 True developmental and epileptic encephalopathy, 38 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014869 MONDO:0016387 True hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0015929 True NEK9-related lethal skeletal dysplasia thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0017436 True NEK9-related lethal skeletal dysplasia lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014870 MONDO:0019691 True NEK9-related lethal skeletal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014871 MONDO:0019200 True retinitis pigmentosa 75 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014872 MONDO:0016293 True congenital stationary night blindness 1H congenital stationary night blindness SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014874 MONDO:0016759 True pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014875 MONDO:0016525 True hyperaldosteronism, familial, type IV familial hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014876 MONDO:0019502 True intellectual disability, autosomal recessive 54 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014877 MONDO:0018949 True myopathy, distal, 5 distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014878 MONDO:0011827 True patent ductus arteriosus 2 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014880 MONDO:0007473 True Duane retraction syndrome 3 with or without deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0015159 True transketolase deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0019231 True transketolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014882 MONDO:0016387 True hereditary spastic paraplegia 77 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014882 MONDO:0019064 True hereditary spastic paraplegia 77 hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014883 MONDO:0024573 True hypertrophic cardiomyopathy 26 familial hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014884 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 5 progressive familial intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014885 MONDO:0019312 True Hermansky-Pudlak syndrome 10 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014886 MONDO:0015159 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014886 MONDO:0019289 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014887 MONDO:0000159 True bone marrow failure syndrome 3 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014889 MONDO:0003122 True striatonigral degeneration, childhood-onset striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014889 MONDO:0044807 True striatonigral degeneration, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014890 MONDO:0015526 True PERCHING syndrome cold-induced sweating syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014891 MONDO:0000608 True hyperuricemic nephropathy, familial juvenile type 4 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014892 MONDO:0015159 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014892 MONDO:0100172 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014894 MONDO:0016817 True Meier-Gorlin syndrome 7 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014895 MONDO:0100062 True developmental and epileptic encephalopathy, 40 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014896 MONDO:0019950 True congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014898 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014899 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014900 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014901 MONDO:0005486 True tooth agenesis, selective, 8 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014903 MONDO:0017615 True seizures, benign familial infantile, 5 benign familial infantile epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014904 MONDO:0005500 True congenital disorder of glycosylation, type IAA congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014905 MONDO:0054865 True encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014906 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014907 MONDO:0018770 True short-rib thoracic dysplasia 15 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014908 MONDO:0016660 True microcephaly 17, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014909 MONDO:0016575 True primary ciliary dyskinesia 34 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014910 MONDO:0016575 True primary ciliary dyskinesia 35 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014912 MONDO:0005046 True infantile-onset periodic fever-panniculitis-dermatosis syndrome immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014912 MONDO:0017953 True infantile-onset periodic fever-panniculitis-dermatosis syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014915 MONDO:0018770 True short-rib thoracic dysplasia 16 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014918 MONDO:0015159 True tall stature-intellectual disability-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014920 MONDO:0020381 True patterned macular dystrophy 3 patterned macular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014922 MONDO:0018943 True myofibrillar myopathy 7 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014923 MONDO:0019347 True peeling skin syndrome 5 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014924 MONDO:0020310 True epilepsy, familial focal, with variable foci 2 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014925 MONDO:0020310 True epilepsy, familial focal, with variable foci 3 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014926 MONDO:0015229 True Bardet-Biedl syndrome 22 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014927 MONDO:0018772 True Joubert syndrome 27 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014928 MONDO:0018772 True Joubert syndrome 28 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014929 MONDO:0019200 True retinitis pigmentosa 76 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014932 MONDO:0015375 True orofaciodigital syndrome XV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014936 MONDO:0015159 True ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014937 MONDO:0007119 True aniridia 2 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014938 MONDO:0007119 True aniridia 3 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014939 MONDO:0018940 True congenital myasthenic syndrome 20 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014943 MONDO:0018158 True mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014944 MONDO:0015159 True short stature-brachydactyly-obesity-global developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014944 MONDO:0019695 True short stature-brachydactyly-obesity-global developmental delay syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014945 MONDO:0018949 True myopathy, distal, with rimmed vacuoles distal myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014950 MONDO:0019625 True aortic aneurysm, familial thoracic 10 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014951 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 74 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014953 MONDO:0006025 True gnb5-related intellectual disability-cardiac arrhythmia syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014959 MONDO:0018158 True mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014961 MONDO:0004983 True spermatogenic failure 16 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014962 MONDO:0019502 True intellectual disability, autosomal recessive 57 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014965 MONDO:0017436 True lethal congenital contracture syndrome 11 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014966 MONDO:0020341 True periventricular nodular heterotopia 7 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014967 MONDO:0018677 True heterotaxy, visceral, 8, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014969 MONDO:0019231 True isolated sedoheptulokinase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014970 MONDO:0004983 True spermatogenic failure 17 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014975 MONDO:0006025 True autosomal recessive spastic paraplegia type 78 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014975 MONDO:0015150 True autosomal recessive spastic paraplegia type 78 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014976 MONDO:0000732 True lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014977 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2R1 autosomal recessive limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014977 MONDO:0017741 True autosomal recessive limb-girdle muscular dystrophy type 2R1 disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014981 MONDO:0003778 True immunodeficiency 49 inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014981 MONDO:0031520 True immunodeficiency 49 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014982 MONDO:0001384 True myopia 25, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014983 MONDO:0018940 True congenital myasthenic syndrome 21 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014985 MONDO:0019391 True Fanconi anemia complementation group V Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014986 MONDO:0019391 True Fanconi anemia complementation group R Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014987 MONDO:0019391 True Fanconi anemia complementation group U Fanconi anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014991 MONDO:0019342 True Seckel syndrome 10 Seckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014992 MONDO:0018838 True lissencephaly 8 lissencephaly spectrum disorders SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014993 MONDO:0018943 True myofibrillar myopathy 8 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014996 MONDO:0019502 True intellectual disability, autosomal recessive 58 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014997 MONDO:0019005 True nephronophthisis 20 nephronophthisis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014999 MONDO:0005486 True tooth agenesis, selective, 9 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015000 MONDO:0100062 True developmental and epileptic encephalopathy, 48 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015001 MONDO:0018054 True atrial fibrillation, familial, 18 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015002 MONDO:0100062 True developmental and epileptic encephalopathy, 49 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0018424 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0024237 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015003 MONDO:0044807 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015004 MONDO:0044807 True dystonia 28, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015005 MONDO:0009945 True epilepsy, early-onset, vitamin B6-dependent pyridoxine-dependent epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015006 MONDO:0017610 True epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015007 MONDO:0015087 True spastic paraplegia, intellectual disability, nystagmus, and obesity autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015009 MONDO:0019313 True lymphatic malformation 7 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015010 MONDO:0011612 True atypical glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015011 MONDO:0043878 True optic atrophy 11 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0015159 True mucopolysaccharidosis-plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015013 MONDO:0019200 True retinitis pigmentosa 77 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015015 MONDO:0018841 True congenital bile acid synthesis defect 6 congenital bile acid synthesis defect SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015016 MONDO:0019503 True anterior segment dysgenesis 6 anterior segment dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015017 MONDO:0019503 True anterior segment dysgenesis 8 anterior segment dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015018 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 12 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015020 MONDO:0019502 True intellectual disability, autosomal recessive 59 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015021 MONDO:0003847 True hypotonia, ataxia, and delayed development syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015023 MONDO:0018958 True MYPN-related myopathy nemaline myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015024 MONDO:0019287 True ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015025 MONDO:0100062 True developmental and epileptic encephalopathy, 51 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015026 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 2 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015027 MONDO:0016365 True familial isolated hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015028 MONDO:0017975 True 48,XXYY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015029 MONDO:0015031 True reticular perineurioma extraneural perineurioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015030 MONDO:0015031 True sclerosing perineurioma extraneural perineurioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015031 MONDO:0019404 True extraneural perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015032 MONDO:0019404 True intraneural perineurioma perineurioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015034 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type A lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015035 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type B lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015036 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type C lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015037 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type D lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015038 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type E lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015039 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type F lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015040 MONDO:0019454 True myelodysplastic syndrome with excess blasts-1 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015041 MONDO:0019454 True myelodysplastic syndrome with excess blasts-2 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015042 MONDO:0005615 True primary plasmacytoma of the bone plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015043 MONDO:0005615 True extramedullary soft tissue plasmacytoma plasmacytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015044 MONDO:0019464 True mu-heavy chain disease heavy chain disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015045 MONDO:0019464 True alpha-heavy chain disease heavy chain disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015046 MONDO:0019464 True gamma-heavy chain disease heavy chain disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015047 MONDO:0019507 True amelogenesis imperfecta type 1 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015048 MONDO:0019507 True amelogenesis imperfecta type 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015053 MONDO:0033946 True hereditary angioedema type 1 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015054 MONDO:0033946 True hereditary angioedema type 2 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015055 MONDO:0019624 True acquired angioedema type 2 acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015056 MONDO:0019624 True acquired angioedema type 1 acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015057 MONDO:0019624 True renin-angiotensin-aldosterone system-blocker-induced angioedema acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015061 MONDO:0005979 True neurogenic thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015062 MONDO:0000386 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015062 MONDO:0003111 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015063 MONDO:0002995 True duodenal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015064 MONDO:0002564 True jejunal neuroendocrine tumor, well differentiated, low or intermediate grade jejunal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015064 MONDO:0002995 True jejunal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015065 MONDO:0002995 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015065 MONDO:0006801 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015066 MONDO:0018511 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015066 MONDO:0024501 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade appendix neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015067 MONDO:0000386 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015067 MONDO:0002882 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015068 MONDO:0000386 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015068 MONDO:0003646 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015069 MONDO:0003504 True neuroendocrine tumor of the anal canal anal canal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0005586 True laryngeal neuroendocrine neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0021071 True laryngeal neuroendocrine neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015071 MONDO:0019496 True middle ear neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015072 MONDO:0002120 True liver neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015072 MONDO:0018531 True liver neuroendocrine carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015072 MONDO:0024503 True liver neuroendocrine carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015073 MONDO:0000386 True gallbladder neuroendocrine tumor, grade 1/2 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015073 MONDO:0024502 True gallbladder neuroendocrine tumor, grade 1/2 gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015074 MONDO:0003240 True thyroid tumor thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015075 MONDO:0002108 True thyroid gland carcinoma thyroid cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015075 MONDO:0004993 True thyroid gland carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015079 MONDO:0015126 True multiple polyglandular tumor polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015082 MONDO:0004907 True alopecia antibody deficiency alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015085 MONDO:0017265 True bathing suit ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015086 MONDO:0015338 True cloverleaf skull-asphyxiating thoracic dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015087 MONDO:0015150 True autosomal dominant complex spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015092 MONDO:0016064 True cleft hard palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015093 MONDO:0016292 True sub-cortical nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015094 MONDO:0016292 True subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015097 MONDO:0017735 True aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015099 MONDO:0017092 True unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015100 MONDO:0019453 True aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015101 MONDO:0007946 True Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015103 MONDO:0020064 True pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015104 MONDO:0002520 True porphyria cutanea tarda hepatic porphyria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015109 MONDO:0019817 True congenital anomaly of the mitral subvalvular apparatus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015137 MONDO:0019751 True periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0015547 True early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0024237 True early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015146 MONDO:0018838 True classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015148 MONDO:0018838 True lissencephaly type 3 lissencephaly spectrum disorders SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015149 MONDO:0019064 True pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015150 MONDO:0019064 True complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015151 MONDO:0000426 True muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015151 MONDO:0016971 True muscular dystrophy, limb-girdle, autosomal dominant limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015152 MONDO:0006025 True autosomal recessive limb-girdle muscular dystrophy autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015152 MONDO:0016971 True autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015157 MONDO:0017341 True human herpesvirus 8-related tumor virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015158 MONDO:0015137 True unexplained periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015159 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015161 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome without intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015164 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015165 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015166 MONDO:0018874 True acute myeloid leukemia with t(8;21)(q22;q22) translocation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015167 MONDO:0018234 True amniotic band syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015168 MONDO:0003847 True arthrogryposis multiplex congenita hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015168 MONDO:0015225 True arthrogryposis multiplex congenita arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015169 MONDO:0017706 True chronic diarrhea due to glucoamylase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015175 MONDO:0000569 True autoimmune pancreatitis autoimmune disorder of endocrine system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015177 MONDO:0018230 True metaphyseal anadysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015183 MONDO:0005020 True short bowel syndrome intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015185 MONDO:0015356 True intestinal polyposis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015191 MONDO:0017574 True myopathic intestinal pseudoobstruction chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015193 MONDO:0019755 True hydrops fetalis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015194 MONDO:0002280 True sideroblastic anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015195 MONDO:0018559 True atresia of urethra fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015201 MONDO:0019755 True ankyloblepharon filiforme-imperforate anus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015203 MONDO:0019512 True coronary artery congenital malformation congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015204 MONDO:0018838 True microlissencephaly lissencephaly spectrum disorders SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015205 MONDO:0015146 True isolated lissencephaly type 1 without known genetic defects classic lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015225 MONDO:0019054 True arthrogryposis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015229 MONDO:0002254 True Bardet-Biedl syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015229 MONDO:0005308 True Bardet-Biedl syndrome ciliopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015229 MONDO:0006025 True Bardet-Biedl syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015230 MONDO:0015161 True anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015231 MONDO:0006510 True Bartter syndrome renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015231 MONDO:0015962 True Bartter syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015232 MONDO:0018234 True radial deficiency-tibial hypoplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015232 MONDO:0019054 True radial deficiency-tibial hypoplasia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015233 MONDO:0015159 True caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015234 MONDO:0015159 True arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015236 MONDO:0020292 True aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015238 MONDO:0015161 True arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015239 MONDO:0016581 True abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015240 MONDO:0015161 True digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015240 MONDO:0019942 True digitotalar dysmorphism distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015241 MONDO:0015168 True arthrogryposis-like syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015243 MONDO:0000771 True allergic bronchopulmonary aspergillosis allergic respiratory disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015243 MONDO:0005657 True allergic bronchopulmonary aspergillosis aspergillosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0015244 MONDO:0006025 True autosomal recessive cerebellar ataxia autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015247 MONDO:0018215 True opsoclonus-myoclonus syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015248 MONDO:0015159 True ataxia-photosensitivity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015248 MONDO:0100309 True ataxia-photosensitivity-short stature syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0019817 True mitral atresia disorder congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015250 MONDO:0016113 True spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015252 MONDO:0015159 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015252 MONDO:0100309 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001713 True Diamond-Blackfan anemia inherited aplastic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015254 MONDO:0004664 True schistosomiasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015259 MONDO:0015159 True brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015261 MONDO:0004907 True pseudopelade of Brocq alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015262 MONDO:0005516 True brachyolmia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015262 MONDO:0019694 True brachyolmia spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015263 MONDO:0000992 True Brugada syndrome heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015263 MONDO:0003847 True Brugada syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015264 MONDO:0002429 True cryptogenic organizing pneumonia idiopathic interstitial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015265 MONDO:0015925 True bronchiolitis obliterans syndrome interstitial lung disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015267 MONDO:0000426 True Feingold syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015267 MONDO:0002254 True Feingold syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015270 MONDO:0019253 True butyrylcholinesterase deficiency metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015271 MONDO:0016105 True idiopathic camptocormia acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015272 MONDO:0019054 True camptodactyly-taurinuria syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015273 MONDO:0020290 True complete atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015274 MONDO:0015926 True chronic beryllium disease pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015275 MONDO:0020290 True partial atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015277 MONDO:0002120 True medullary thyroid gland carcinoma neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015278 MONDO:0005192 True familial pancreatic carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015279 MONDO:0003778 True chronic mucocutaneous candidiasis inborn error of immunity UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015280 MONDO:0015159 True cardiofaciocutaneous syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015280 MONDO:0019287 True cardiofaciocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015280 MONDO:0020297 True cardiofaciocutaneous syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015281 MONDO:0016340 True atrial standstill familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015284 MONDO:0015161 True heart-hand syndrome type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015284 MONDO:0016432 True heart-hand syndrome type 2 heart-hand syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015285 MONDO:0000426 True Carney complex autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015286 MONDO:0019052 True congenital disorder of glycosylation inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015289 MONDO:0023865 True infectious epithelial keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015293 MONDO:0017623 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015293 MONDO:0019716 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015301 MONDO:0019065 True primary cutaneous amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015301 MONDO:0021154 True primary cutaneous amyloidosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015302 MONDO:0015301 True nodular cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015303 MONDO:0015301 True macular amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015304 MONDO:0004796 True arachnoiditis infectious meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015306 MONDO:0000315 True Lemierre syndrome commensal bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015307 MONDO:0020128 True Madras motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015312 MONDO:0012155 True choanal atresia, unilateral choanal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015313 MONDO:0012155 True choanal atresia, bilateral choanal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015317 MONDO:0016223 True laryngotracheal angioma infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015324 MONDO:0015159 True cataract-intellectual disability-anal atresia-urinary defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015325 MONDO:0015159 True cataract-deafness-hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015326 MONDO:0015161 True night blindness-skeletal anomalies-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015327 MONDO:0019755 True developmental anomaly of metabolic origin developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015333 MONDO:0019755 True progeroid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015337 MONDO:0015469 True isolated craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015338 MONDO:0015469 True syndromic craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015339 MONDO:0018544 True adrenomyeloneuropathy adrenoleukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015339 MONDO:0020127 True adrenomyeloneuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015340 MONDO:0017396 True drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015344 MONDO:0015342 True idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015345 MONDO:0020072 True perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015346 MONDO:0020072 True Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015347 MONDO:0002254 True multicentric reticulohistiocytosis syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015347 MONDO:0015531 True multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015348 MONDO:0019046 True leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015349 MONDO:0019046 True progressive cavitating leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015350 MONDO:0016967 True 17q11.2 microduplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015351 MONDO:0020127 True neuropathy with hearing impairment hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015352 MONDO:0015362 True distal hereditary motor neuropathy type 2 neuronopathy, distal hereditary motor, autosomal dominant SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015355 MONDO:0015362 True distal hereditary motor neuropathy type 7 neuronopathy, distal hereditary motor, autosomal dominant SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015362 MONDO:0000426 True neuronopathy, distal hereditary motor, autosomal dominant autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015362 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal dominant spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015362 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal dominant distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015363 MONDO:0006025 True neuronopathy, distal hereditary motor, autosomal recessive autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015363 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal recessive distal hereditary motor neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015364 MONDO:0020127 True hereditary sensory and autonomic neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015367 MONDO:0015161 True Charlie M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015367 MONDO:0017139 True Charlie M syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015369 MONDO:0020043 True Joubert syndrome and related disorders autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015371 MONDO:0021154 True linear atrophoderma of Moulin dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015375 MONDO:0015498 True orofaciodigital syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015376 MONDO:0015476 True first branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015377 MONDO:0015476 True third branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015378 MONDO:0015476 True fourth branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015379 MONDO:0015476 True cervical dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015380 MONDO:0015476 True facial dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015381 MONDO:0015476 True commissural lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015382 MONDO:0015476 True lower lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015383 MONDO:0015476 True cervicofacial fibrochondroma cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015384 MONDO:0015476 True digestive duplication cyst of the tongue cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015386 MONDO:0019500 True epignathus extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015391 MONDO:0019500 True nasopharyngeal teratoma extragonadal teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015393 MONDO:0016733 True nasal ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015394 MONDO:0016057 True nasal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015397 MONDO:0002254 True craniofacial microsomia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015399 MONDO:0017139 True glossopalatine ankylosis oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015400 MONDO:0015500 True frontonasal arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015401 MONDO:0015500 True maxillary arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015402 MONDO:0015500 True mandibular arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015406 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015407 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015408 MONDO:0002013 True diffuse lymphatic malformation lymphangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015410 MONDO:0015476 True nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015411 MONDO:0019755 True facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015413 MONDO:0015411 True median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015416 MONDO:0015411 True Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015417 MONDO:0015411 True Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015419 MONDO:0015411 True midline cervical cleft facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015421 MONDO:0015375 True orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015422 MONDO:0015375 True orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015426 MONDO:0019755 True Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015427 MONDO:0016058 True paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015428 MONDO:0019287 True choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015445 MONDO:0007345 True autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015446 MONDO:0007345 True atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015449 MONDO:0019512 True criss-cross heart congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015450 MONDO:0019512 True triatrial heart congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015451 MONDO:0019820 True univentricular heart univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015452 MONDO:0002254 True Coffin-Siris syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015452 MONDO:0003847 True Coffin-Siris syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015452 MONDO:0015159 True Coffin-Siris syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015453 MONDO:0005328 True Cogan syndrome eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015454 MONDO:0019214 True multiple carboxylase deficiency inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015454 MONDO:0019215 True multiple carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015458 MONDO:0015159 True intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015459 MONDO:0002038 True nasopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015459 MONDO:0017344 True nasopharyngeal carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015459 MONDO:0021315 True nasopharyngeal carcinoma malignant tumor of nasopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015459 MONDO:0021345 True nasopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0015929 True short rib-polydactyly syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0019691 True short rib-polydactyly syndrome short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015462 MONDO:0018230 True thin ribs-tubular bones-dysmorphism syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015463 MONDO:0015159 True craniodigital syndrome-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015464 MONDO:0015856 True craniofrontonasal dysplasia-Poland anomaly syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015464 MONDO:0016643 True craniofrontonasal dysplasia-Poland anomaly syndrome frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015466 MONDO:0016620 True cranio-osteoarthropathy primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015467 MONDO:0015338 True craniosynostosis, Philadelphia type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015469 MONDO:0001411 True craniosynostosis synostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015471 MONDO:0020073 True benign focal seizures of adolescence adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015473 MONDO:0015159 True cryptorchidism-arachnodactyly-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015474 MONDO:0005707 True cryptosporidiosis coccidiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015476 MONDO:0019755 True cysts and fistulae of the face and oral cavity developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015477 MONDO:0015476 True pinnae fistula or cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015479 MONDO:0016064 True submucosal cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015480 MONDO:0015411 True coloboma of superior eyelid facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015481 MONDO:0015411 True coloboma of inferior eyelid facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015484 MONDO:0000367 True cysticercosis taeniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015486 MONDO:0000942 True keratoconus corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015487 MONDO:0016387 True fatal infantile encephalocardiomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015491 MONDO:0018882 True immune complex mediated vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015494 MONDO:0044807 True isolated dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015496 MONDO:0019755 True macroglossia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015515 MONDO:0017716 True carnitine palmitoyltransferase II deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015517 MONDO:0015356 True common variable immunodeficiency hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015519 MONDO:0800448 True congenital or early infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015520 MONDO:0800448 True late infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015521 MONDO:0800448 True juvenile or adult CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015523 MONDO:0002095 True epithelioid hemangioendothelioma vascular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015523 MONDO:0021121 True epithelioid hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015524 MONDO:0015185 True hyperplastic polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015525 MONDO:0018234 True congenital pseudoarthrosis of the limbs dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015526 MONDO:0018431 True cold-induced sweating syndrome cold-induced sweating syndrome - hyperthermia spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0003396 True congenital epulis epulis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015529 MONDO:0015530 True paroxysmal Hemicrania trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015531 MONDO:0002637 True non-Langerhans cell histiocytosis histiocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015532 MONDO:0015531 True generalized eruptive histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015533 MONDO:0015531 True benign cephalic histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015534 MONDO:0015531 True juvenile xanthogranuloma non-Langerhans cell histiocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015535 MONDO:0015531 True xanthoma disseminatum non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015536 MONDO:0015531 True papular xanthoma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015537 MONDO:0015531 True necrobiotic xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015538 MONDO:0006247 True indeterminate dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015538 MONDO:0015531 True indeterminate dendritic cell tumor non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015539 MONDO:0015531 True progressive nodular histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015540 MONDO:0005833 True hemophagocytic syndrome lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015541 MONDO:0003778 True hereditary hemophagocytic lymphohistiocytosis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015541 MONDO:0015540 True hereditary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015542 MONDO:0015540 True secondary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015544 MONDO:0015542 True acquired hemophagocytic lymphohistiocytosis associated with malignant disease secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015545 MONDO:0015542 True macrophage activation syndrome secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015546 MONDO:0016909 True non-distal monosomy 10q partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015552 MONDO:0006543 True acral dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015553 MONDO:0006543 True dystrophic epidermolysis bullosa, nails only epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015554 MONDO:0019316 True typical urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015555 MONDO:0019316 True plaque-form urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015556 MONDO:0019316 True nodular urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015562 MONDO:0016915 True distal monosomy 17q partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015564 MONDO:0016537 True Castleman disease lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015566 MONDO:0016901 True 2q24 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015570 MONDO:0015604 True isolated congenital auditory ossicle malformation middle ear anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015571 MONDO:0016904 True deletion 5q35 partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015579 MONDO:0011399 True Hb Bart's hydrops fetalis alpha thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015580 MONDO:0016906 True distal monosomy 7q36 partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015583 MONDO:0016884 True 2p21 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015584 MONDO:0020072 True febrile infection-related epilepsy syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015585 MONDO:0020072 True cryptogenic late-onset epileptic spasms childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015587 MONDO:0020072 True rolandic epilepsy-speech dyspraxia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015588 MONDO:0019956 True limbic encephalitis encephalitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015597 MONDO:0002406 True pustulosis palmaris et plantaris dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015597 MONDO:0019268 True pustulosis palmaris et plantaris epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015601 MONDO:0020119 True X-linked intellectual disability, van Esch type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015604 MONDO:0019755 True middle ear anomaly developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015605 MONDO:0020040 True distal monosomy 9p 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015606 MONDO:0017004 True Xp22.3 microdeletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015608 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to radiation therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015609 MONDO:0003847 True advanced sleep phase syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015610 MONDO:0015909 True acquired aplastic anemia aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015611 MONDO:0018117 True neutral lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015611 MONDO:0019245 True neutral lipid storage disease lysosomal lipid storage disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015612 MONDO:0006510 True Dent disease renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015612 MONDO:0015962 True Dent disease inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015613 MONDO:0002220 True dentin dysplasia tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015614 MONDO:0019337 True dermatitis herpetiformis autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015622 MONDO:0020568 True wound myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015623 MONDO:0019147 True cavitary myiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015624 MONDO:0019010 True diazoxide-sensitive diffuse hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015625 MONDO:0017186 True diazoxide-resistant diffuse hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015626 MONDO:0020127 True Charcot-Marie-Tooth disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015627 MONDO:0016648 True multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015628 MONDO:0013304 True von Willebrand disease type 2A von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015629 MONDO:0013304 True von Willebrand disease type 2B von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015630 MONDO:0013304 True von Willebrand disease type 2M von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015631 MONDO:0013304 True von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015632 MONDO:0016387 True FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015636 MONDO:0016075 True dirofilariasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015637 MONDO:0015642 True benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015638 MONDO:0015637 True benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015639 MONDO:0015637 True benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015640 MONDO:0015642 True benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015641 MONDO:0015642 True benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015642 MONDO:0020071 True benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015644 MONDO:0017768 True audiogenic seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015645 MONDO:0017768 True eating seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015646 MONDO:0017768 True orgasm-induced seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015647 MONDO:0017768 True thinking seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015648 MONDO:0017768 True startle epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015649 MONDO:0017768 True micturation-induced seizures reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015661 MONDO:0005453 True dextrocardia congenital heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015661 MONDO:0018677 True dextrocardia visceral heterotaxy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015664 MONDO:0020292 True idiopathic pulmonary artery dilatation congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015665 MONDO:0018432 True scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015666 MONDO:0019512 True familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015674 MONDO:0002561 True late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015677 MONDO:0019512 True cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015678 MONDO:0018230 True dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015688 MONDO:0015756 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015688 MONDO:0044881 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015689 MONDO:0015688 True myeloid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015690 MONDO:0015688 True myeloid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015691 MONDO:0016345 True hypereosinophilic syndrome non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015692 MONDO:0018881 True refractory anemia with excess blasts in transformation myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015696 MONDO:0017769 True Good syndrome acquired immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015697 MONDO:0003778 True immunoglobulin heavy chain deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015698 MONDO:0003827 True transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015699 MONDO:0003832 True immunodeficiency due to a classical component pathway complement deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015700 MONDO:0003832 True immunodeficiency due to a late component of complement deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015701 MONDO:0044200 True T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015702 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015703 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015704 MONDO:0015338 True familial scaphocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015705 MONDO:0018947 True autosomal recessive centronuclear myopathy centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015708 MONDO:0003778 True immuno-osseous dysplasia inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015712 MONDO:0016961 True non-distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015715 MONDO:0010604 True severe hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015716 MONDO:0010604 True moderately severe hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015717 MONDO:0010604 True mild hemophilia B hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015719 MONDO:0010602 True severe hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015720 MONDO:0010602 True moderately severe hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015721 MONDO:0010602 True mild hemophilia A hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015722 MONDO:0021181 True congenital vitamin K-dependent coagulation factors deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015723 MONDO:0016933 True trisomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015724 MONDO:0022177 True non-distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015726 MONDO:0016964 True distal trisomy 14q partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015728 MONDO:0017806 True distal trisomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0016193 True severe congenital nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0016194 True severe congenital nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015735 MONDO:0018958 True severe congenital nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0016193 True intermediate nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0016194 True intermediate nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015736 MONDO:0017303 True intermediate nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0016193 True typical nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0016194 True typical nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0017303 True typical nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015737 MONDO:0018958 True typical nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0016193 True childhood-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0016194 True childhood-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0017303 True childhood-onset nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015738 MONDO:0018958 True childhood-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0016193 True adult-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0016194 True adult-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015739 MONDO:0018958 True adult-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015740 MONDO:0016951 True trisomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015741 MONDO:0016968 True distal trisomy 18q partial trisomy of the long arm of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015742 MONDO:0006741 True periventricular leukomalacia encephalomalacia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015744 MONDO:0016969 True distal trisomy 19q partial duplication of the long arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015746 MONDO:0018394 True male infertility due to globozoospermia male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015749 MONDO:0016905 True 6q16 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015749 MONDO:0018354 True 6q16 deletion syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015751 MONDO:0015338 True craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015755 MONDO:0019952 True myopathy with hexagonally cross-linked tubular arrays congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015756 MONDO:0005570 True myeloid hemopathy hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015758 MONDO:0015760 True primary cutaneous T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015758 MONDO:0018898 True primary cutaneous T-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015759 MONDO:0004095 True B-cell non-Hodgkin lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015759 MONDO:0018908 True B-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015760 MONDO:0018908 True T-cell non-Hodgkin lymphoma non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015761 MONDO:0016947 True trisomy 10p partial duplication of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0017290 True progressive familial intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0017755 True progressive familial intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015766 MONDO:0000314 True cholera primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015767 MONDO:0016941 True trisomy 4p partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015768 MONDO:0016942 True trisomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015768 MONDO:0019716 True trisomy 5p overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015769 MONDO:0016943 True distal trisomy 6p partial duplication of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015770 MONDO:0019824 True congenital hypogonadotropic hypogonadism non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015772 MONDO:0016959 True trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015773 MONDO:0019054 True fibular dimelia-diplopodia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015775 MONDO:0019701 True non-rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015776 MONDO:0017986 True rhizomelic chondrodysplasia punctata disorder of plasmalogens biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015776 MONDO:0019701 True rhizomelic chondrodysplasia punctata chondrodysplasia punctata SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0015779 MONDO:0001967 True 45,X/46,XY mixed gonadal dysgenesis gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015779 MONDO:0017975 True 45,X/46,XY mixed gonadal dysgenesis sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015780 MONDO:0015356 True dyskeratosis congenita hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015780 MONDO:0019287 True dyskeratosis congenita ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015781 MONDO:0015159 True facial dysmorphism-shawl scrotum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015783 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015784 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015785 MONDO:0008300 True Prader-Willi syndrome due to translocation Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015786 MONDO:0008300 True Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015787 MONDO:0010602 True symptomatic form of hemophilia A in female carriers hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015788 MONDO:0010604 True symptomatic form of hemophilia B in female carriers hemophilia B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015790 MONDO:0015127 True central diabetes insipidus pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015791 MONDO:0000088 True peripheral precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015792 MONDO:0018612 True transient congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015793 MONDO:0018948 True moderate multiminicore disease with hand involvement multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015794 MONDO:0018948 True antenatal multiminicore disease with arthrogryposis multiplex congenita multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015797 MONDO:0006025 True UV-sensitive syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015797 MONDO:0015951 True UV-sensitive syndrome hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015798 MONDO:0006424 True inflammatory myofibroblastic tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015800 MONDO:0015338 True osteosclerosis-developmental delay-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015803 MONDO:0016468 True wound botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015804 MONDO:0015805 True infant botulism intestinal botulism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015805 MONDO:0016468 True intestinal botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015806 MONDO:0015805 True adult intestinal botulism intestinal botulism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015808 MONDO:0045071 True folliculotropic mycosis fungoides mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015809 MONDO:0045071 True localized pagetoid reticulosis mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015810 MONDO:0015816 True primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015811 MONDO:0015758 True primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015812 MONDO:0015758 True primary cutaneous gamma/delta-positive T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015813 MONDO:0015819 True primary cutaneous marginal zone B-cell lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015814 MONDO:0015819 True primary cutaneous follicle center lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015816 MONDO:0015758 True indolent primary cutaneous T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015819 MONDO:0015820 True indolent primary cutaneous B-cell lymphoma primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015819 MONDO:0017594 True indolent primary cutaneous B-cell lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015820 MONDO:0018898 True primary cutaneous B-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015821 MONDO:0015816 True mycosis fungoides and variants indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015824 MONDO:0018234 True oculomaxillofacial dysostosis dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015830 MONDO:0019128 True partial bilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015831 MONDO:0019128 True unilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015832 MONDO:0015831 True true unicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015833 MONDO:0015831 True pseudounicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015834 MONDO:0015842 True didelphys uterus bicornuate uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015835 MONDO:0015834 True Bicervical bicornuate uterus and blind hemivagina didelphys uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015836 MONDO:0015834 True Bicervical bicornuate uterus with patent cervix and vagina didelphys uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015840 MONDO:0015839 True complete septate uterus septate uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015841 MONDO:0015839 True partial septate uterus septate uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015850 MONDO:0021147 True transverse vaginal septum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0015864 MONDO:0006290 True mixed germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015867 MONDO:0001402 True vaginal carcinoma vaginal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015867 MONDO:0004993 True vaginal carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015871 MONDO:0000620 True benign breast phyllodes tumor breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015871 MONDO:0021047 True benign breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015871 MONDO:0037002 True benign breast phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015873 MONDO:0002648 True Paget disease of the nipple mammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015873 MONDO:0003950 True Paget disease of the nipple nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015883 MONDO:0019287 True hidrotic ectodermal dysplasia, Halal type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015884 MONDO:0016535 True autosomal dominant hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015892 MONDO:0015514 True growth hormone insensitivity syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015905 MONDO:0002525 True syndromic dyslipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015908 MONDO:0000255 True chromomycosis subcutaneous mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015909 MONDO:0002280 True aplastic anemia anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015912 MONDO:0000009 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss inherited bleeding disorder, platelet-type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015912 MONDO:0018795 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015925 MONDO:0005275 True interstitial lung disease lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015926 MONDO:0015925 True pneumoconiosis interstitial lung disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015929 MONDO:0020001 True thoracic malformation respiratory or thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015941 MONDO:0015159 True epiphyseal dysplasia-hearing loss-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015942 MONDO:0018233 True frontometaphyseal dysplasia otopalatodigital syndrome spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015947 MONDO:0019269 True inherited ichthyosis ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015974 MONDO:0015131 True severe combined immunodeficiency combined immunodeficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015977 MONDO:0002211 True agammaglobulinemia B cell deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015986 MONDO:0018470 True bilateral renal agenesis renal agenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015987 MONDO:0020292 True scimitar syndrome congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015990 MONDO:0015494 True focal, segmental or multifocal dystonia isolated dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015991 MONDO:0004739 True citrullinemia urea cycle disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015993 MONDO:0019118 True cone-rod dystrophy inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015995 MONDO:0018230 True melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016002 MONDO:0006025 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016003 MONDO:0000314 True ehrlichiosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016004 MONDO:0016677 True aminopterin/methotrexate embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016005 MONDO:0016677 True indomethacin embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0006025 True Cockayne syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0015333 True Cockayne syndrome progeroid syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016007 MONDO:0016677 True cocaine embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016008 MONDO:0016677 True fetal hydantoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016009 MONDO:0016677 True fetal trimethadione syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016010 MONDO:0016677 True vitamin K-antagonist embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0000408 True fetal alcohol syndrome fetal alcohol spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0016677 True fetal alcohol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016012 MONDO:0016677 True diethylstilbestrol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016013 MONDO:0016677 True fetal methylmercury syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016014 MONDO:0016677 True fetal minoxidil syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016015 MONDO:0016677 True phenobarbital embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016016 MONDO:0016677 True toluene embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016017 MONDO:0016677 True methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016020 MONDO:0016057 True frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0000412 True early myoclonic encephalopathy neonatal period electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0016801 True early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0020072 True myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016026 MONDO:0020071 True infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016027 MONDO:0000412 True benign neonatal seizures neonatal period electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016027 MONDO:0020070 True benign neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016029 MONDO:0016713 True esthesioneuroblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0004680 True Evans syndrome primary thrombocytopenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0019098 True Evans syndrome autoimmune thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0020108 True Evans syndrome autoimmune hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016031 MONDO:0015161 True facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016032 MONDO:0018234 True femoral agenesis/hypoplasia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016032 MONDO:0019713 True femoral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0003847 True Cornelia de Lange syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0015159 True Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0018234 True Cornelia de Lange syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0019054 True Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016035 MONDO:0003429 True Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016037 MONDO:0005031 True superficial Fibromatosis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016038 MONDO:0005167 True calcified aponeurotic fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016038 MONDO:0016037 True calcified aponeurotic fibroma superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016039 MONDO:0016037 True infantile digital fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016042 MONDO:0019832 True late-onset isolated ACTH deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016044 MONDO:0021147 True cleft lip/palate disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016045 MONDO:0017975 True tetragametic chimerism sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016046 MONDO:0019054 True familial clubfoot with or without associated lower limb anomalies congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016049 MONDO:0016145 True congenital myopathy, Paradas type qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016049 MONDO:0019950 True congenital myopathy, Paradas type congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016051 MONDO:0015161 True cleft lip-retinopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016052 MONDO:0000594 True atypical autism pervasive developmental disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016053 MONDO:0020022 True isolated cerebellar vermis hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016056 MONDO:0001149 True isolated congenital microcephaly microcephaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016057 MONDO:0017078 True isolated encephalocele cephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016058 MONDO:0020065 True paroxysmal dystonia combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016062 MONDO:0015411 True median cleft lip/mandibule facial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016064 MONDO:0000358 True cleft palate orofacial cleft SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016064 MONDO:0019755 True cleft palate developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016065 MONDO:0015159 True cleft palate-short stature-vertebral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016066 MONDO:0015929 True sternal cleft thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016068 MONDO:0005516 True fibrochondrogenesis osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016068 MONDO:0018230 True fibrochondrogenesis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016070 MONDO:0002507 True hereditary gingival fibromatosis gingival overgrowth SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016071 MONDO:0009229 True juvenile hyaline fibromatosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016073 MONDO:0021129 True syndromic microphthalmia microphthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016075 MONDO:0004664 True filariasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0016077 MONDO:0016581 True congenital aortopulmonary window conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016078 MONDO:0020296 True congenital systemic arteriovenous fistula congenital arteriovenous fistula UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016081 MONDO:0015203 True coronary arterial fistulas coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0015161 True Cole-Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0018230 True Cole-Carpenter syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016086 MONDO:0018381 True osteochondritis of tarsal/metatarsal bone osteochondrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016087 MONDO:0015161 True progressive non-infectious anterior vertebral fusion multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016087 MONDO:0018234 True progressive non-infectious anterior vertebral fusion dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016088 MONDO:0019236 True hypoxanthine-guanine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016089 MONDO:0009499 True infantile Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016090 MONDO:0009499 True late-infantile/juvenile Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016091 MONDO:0009499 True adult Krabbe disease Krabbe disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016091 MONDO:0020143 True adult Krabbe disease cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016093 MONDO:0002229 True borderline epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016095 MONDO:0002140 True vaginal rhabdomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016095 MONDO:0005212 True vaginal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016096 MONDO:0003408 True malignant non-dysgerminomatous germ cell tumor of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016096 MONDO:0021656 True malignant non-dysgerminomatous germ cell tumor of ovary nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016097 MONDO:0016106 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016097 MONDO:0016333 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016098 MONDO:0020122 True immune-mediated necrotizing myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016099 MONDO:0020122 True overlap myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016103 MONDO:0016146 True isolated asymptomatic elevation of creatine phosphokinase caveolinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016103 MONDO:0016147 True isolated asymptomatic elevation of creatine phosphokinase qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016105 MONDO:0020120 True acquired skeletal muscle disease skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016106 MONDO:0020121 True progressive muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016107 MONDO:0016106 True myotonic dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016107 MONDO:0016120 True myotonic dystrophy myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016108 MONDO:0018949 True autosomal dominant distal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016120 MONDO:0020120 True myotonic syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016129 MONDO:0002269 True eosinophilic gastroenteritis gastroenteritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016129 MONDO:0018438 True eosinophilic gastroenteritis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016140 MONDO:0016139 True sarcoglycanopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016141 MONDO:0016140 True qualitative or quantitative defects of alpha-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016142 MONDO:0016140 True qualitative or quantitative defects of beta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016143 MONDO:0016140 True qualitative or quantitative defects of gamma-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016144 MONDO:0016140 True qualitative or quantitative defects of delta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016145 MONDO:0016139 True qualitative or quantitative defects of dysferlin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016146 MONDO:0016139 True caveolinopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016147 MONDO:0016139 True qualitative or quantitative defects of dystrophin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016151 MONDO:0016139 True qualitative or quantitative defects of perlecan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016153 MONDO:0016139 True qualitative or quantitative defects of TRIM32 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016155 MONDO:0018282 True qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan qualitative or quantitative defects of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016156 MONDO:0016155 True qualitative or quantitative defects of FKRP qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016158 MONDO:0021107 True narcolepsy-cataplexy syndrome narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016159 MONDO:0020047 True Gemignani syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016160 MONDO:0015653 True X-linked intellectual disability-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016162 MONDO:0017091 True bilateral frontal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016163 MONDO:0020380 True autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016167 MONDO:0016749 True optic pathway glioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016167 MONDO:0021042 True optic pathway glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016168 MONDO:0017953 True cryopyrin-associated periodic syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016175 MONDO:0002051 True cutis laxa integumentary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016175 MONDO:0019755 True cutis laxa developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016176 MONDO:0015923 True axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016184 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 1 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016185 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 2 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016186 MONDO:0016139 True qualitative or quantitative defects of myofibrillar proteins qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016187 MONDO:0016186 True qualitative or quantitative defects of desmin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016188 MONDO:0016186 True qualitative or quantitative defects of alphaB-cristallin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016189 MONDO:0016186 True qualitative or quantitative defects of filamin C qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016190 MONDO:0016186 True qualitative or quantitative defects of protein ZASP qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016191 MONDO:0016139 True qualitative or quantitative defects of titin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016192 MONDO:0016139 True qualitative or quantitative defects of telethonin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016193 MONDO:0016139 True qualitative or quantitative defects of alpha-actin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016194 MONDO:0016139 True qualitative or quantitative defects of nebulin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016195 MONDO:0016139 True qualitative or quantitative defects of beta-myosin heavy chain (MYH7) qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016197 MONDO:0016139 True qualitative or quantitative defects of selenoprotein N1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016198 MONDO:0016139 True qualitative or quantitative defects of plectin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016199 MONDO:0016139 True qualitative or quantitative defects of protein SERCA1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016203 MONDO:0019218 True hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016207 MONDO:0017634 True phacoanaphylactic uveitis non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016209 MONDO:0016210 True benign familial nocturnal alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016213 MONDO:0019289 True leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016214 MONDO:0015925 True pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016215 MONDO:0000396 True spastic quadriplegic cerebral palsy spastic cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016216 MONDO:0007256 True adult hepatocellular carcinoma hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016218 MONDO:0000590 True Guillain-Barre syndrome autoimmune disorder of peripheral nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016219 MONDO:0015161 True dysmorphism-pectus carinatum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016222 MONDO:0006500 True spindle cell hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016226 MONDO:0016225 True specific language disorder specific learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016227 MONDO:0100309 True hereditary episodic ataxia hereditary ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016236 MONDO:0006424 True kaposiform hemangioendothelioma soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016236 MONDO:0021121 True kaposiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016238 MONDO:0006209 True solitary fibrous tumor fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016239 MONDO:0019246 True cystinosis inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016240 MONDO:0018234 True hemimelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016240 MONDO:0019713 True hemimelia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016241 MONDO:0001170 True alternating hemiplegia of childhood hemiplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016241 MONDO:0016210 True alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016242 MONDO:0002280 True hemoglobin C disease anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016242 MONDO:0019050 True hemoglobin C disease inherited hemoglobinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016243 MONDO:0002280 True hemoglobin E disease anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016243 MONDO:0019050 True hemoglobin E disease inherited hemoglobinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0003832 True atypical hemolytic-uremic syndrome complement deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0019737 True atypical hemolytic-uremic syndrome thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0957097 True atypical hemolytic-uremic syndrome hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016255 MONDO:0021043 True uterine corpus mixed epithelial and mesenchymal neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016255 MONDO:0021254 True uterine corpus mixed epithelial and mesenchymal neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016256 MONDO:0015159 True Hennekam syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016258 MONDO:0002879 True uterine corpus carcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016259 MONDO:0002879 True carcinosarcoma of the corpus uteri uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016259 MONDO:0006485 True carcinosarcoma of the corpus uteri uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016260 MONDO:0005210 True uterine corpus rhabdomyosarcoma uterine corpus sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016260 MONDO:0005212 True uterine corpus rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016262 MONDO:0005058 True leiomyosarcoma of the corpus uteri leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016262 MONDO:0005210 True leiomyosarcoma of the corpus uteri uterine corpus sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016264 MONDO:0000588 True autoimmune hepatitis autoimmune disorder of gastrointestinal tract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016281 MONDO:0002145 True 46,XX ovotesticular disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016282 MONDO:0005212 True rhabdomyosarcoma of the cervix uteri rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016282 MONDO:0016280 True rhabdomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016283 MONDO:0005058 True leiomyosarcoma of the cervix uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016283 MONDO:0016280 True leiomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016284 MONDO:0016280 True primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016290 MONDO:0015159 True Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016291 MONDO:0015338 True craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016293 MONDO:0004587 True congenital stationary night blindness hereditary night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016294 MONDO:0015161 True Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016295 MONDO:0019245 True neuronal ceroid lipofuscinosis lysosomal lipid storage disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016295 MONDO:0024237 True neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0002254 True holoprosencephaly syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0002320 True holoprosencephaly congenital nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0015159 True holoprosencephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0018762 True holoprosencephaly non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016299 MONDO:0020022 True holoprosencephaly-caudal dysgenesis syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016301 MONDO:0000153 True congenitally corrected transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016302 MONDO:0019443 True isolated congenitally uncorrected transposition of the great arteries dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016303 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with cardiac malformation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016304 MONDO:0009319 True classic pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016305 MONDO:0009319 True atypical pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016306 MONDO:0018982 True Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016307 MONDO:0018982 True Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016308 MONDO:0018982 True Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016309 MONDO:0018982 True Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016310 MONDO:0018982 True Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016311 MONDO:0019293 True Bockenheimer syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016315 MONDO:0010674 True mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016316 MONDO:0010674 True mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016319 MONDO:0015364 True congenital insensitivity to pain with hyperhidrosis hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016321 MONDO:0017019 True pulmonary interstitial glycogenosis interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016322 MONDO:0017019 True neuroendocrine cell hyperplasia of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016330 MONDO:0005045 True non-familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016331 MONDO:0009229 True infantile systemic hyalinosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016333 MONDO:0005021 True familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016338 MONDO:0005021 True non-familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016340 MONDO:0005201 True familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016342 MONDO:0016587 True familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016344 MONDO:0000819 True hydranencephaly anencephaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016344 MONDO:0017103 True hydranencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016345 MONDO:0005201 True non-familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0021147 True congenital hydrocephalus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016354 MONDO:0015951 True xeroderma pigmentosum-Cockayne syndrome complex hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016356 MONDO:0005100 True diffuse cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016358 MONDO:0005100 True limited cutaneous systemic sclerosis systemic sclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016359 MONDO:0005100 True limited systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016360 MONDO:0018795 True marcothrombocytopenia with mitral valve insufficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016364 MONDO:0015369 True Joubert syndrome with ocular defect Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016364 MONDO:0020022 True Joubert syndrome with ocular defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016365 MONDO:0016166 True familial primary hyperparathyroidism hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016368 MONDO:0010002 True Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016369 MONDO:0010002 True Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016371 MONDO:0016374 True combined hyperactive dysfunction syndrome of the cranial nerves cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016372 MONDO:0002639 True glossopharyngeal neuralgia glossopharyngeal nerve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016372 MONDO:0016374 True glossopharyngeal neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016374 MONDO:0015923 True cranial neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016380 MONDO:0019280 True acquired hypertrichosis lanuginosa hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016381 MONDO:0019280 True hypertrichosis lanuginosa congenita hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016381 MONDO:0019287 True hypertrichosis lanuginosa congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016382 MONDO:0019268 True hereditary poikiloderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016383 MONDO:0001343 True nephrogenic diabetes insipidus impaired renal function disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016383 MONDO:0004782 True nephrogenic diabetes insipidus diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016383 MONDO:0015962 True nephrogenic diabetes insipidus inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016384 MONDO:0015770 True hypogonadotropic hypogonadism-frontoparietal alopecia syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016386 MONDO:0015770 True hypogonadotropic hypogonadism-retinitis pigmentosa syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016387 MONDO:0004069 True mitochondrial oxidative phosphorylation disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016390 MONDO:0016165 True familial hypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016391 MONDO:0015967 True neonatal diabetes mellitus monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016393 MONDO:0015770 True hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016394 MONDO:0015518 True sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0016113 True pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0020135 True pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0024257 True pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016408 MONDO:0015514 True permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016408 MONDO:0018612 True permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016410 MONDO:0016408 True central congenital hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016411 MONDO:0016410 True hypothyroidism due to deficient transcription factors involved in pituitary development or function central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016413 MONDO:0016555 True congenital hypothyroidism due to maternal intake of antithyroid drugs transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016418 MONDO:0007803 True multiple system atrophy, cerebellar type multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016419 MONDO:0004989 True hereditary breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016422 MONDO:0017278 True autoimmune polyendocrinopathy type 3 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016423 MONDO:0017278 True autoimmune polyendocrinopathy type 4 autoimmune polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016424 MONDO:0005045 True progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016426 MONDO:0002312 True fusariosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016430 MONDO:0002562 True Balo concentric sclerosis demyelinating disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016431 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016432 MONDO:0018234 True heart-hand syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016432 MONDO:0019054 True heart-hand syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016433 MONDO:0015159 True dysmorphism-short stature-deafness-disorder of sex development syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016433 MONDO:0020040 True dysmorphism-short stature-deafness-disorder of sex development syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016440 MONDO:0006209 True elastofibroma dorsi fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016450 MONDO:0020108 True autoimmune hemolytic anemia, cold type autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016453 MONDO:0005498 True foodborne botulism botulism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016456 MONDO:0015159 True 5q14.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016456 MONDO:0016904 True 5q14.3 microdeletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016458 MONDO:0016959 True 8q12 microduplication syndrome partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016459 MONDO:0016901 True 2q23.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016461 MONDO:0016956 True 5q35 microduplication syndrome partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016462 MONDO:0015977 True isolated agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016463 MONDO:0015977 True syndromic agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016466 MONDO:0015926 True asbestosis pneumoconiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016467 MONDO:0016677 True isotretinoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016468 MONDO:0005498 True toxin-mediated infectious botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016471 MONDO:0017672 True pachyonychia congenita focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016472 MONDO:0016075 True dracunculiasis filariasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016473 MONDO:0015356 True familial rhabdoid tumor hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016474 MONDO:0004670 True drug-induced lupus erythematosus lupus erythematosus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016475 MONDO:0007534 True Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016476 MONDO:0007534 True Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016477 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016477 MONDO:0016893 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016478 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016479 MONDO:0008394 True silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016479 MONDO:0016944 True silver-Russell syndrome due to 7p11.2p13 microduplication partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016480 MONDO:0008394 True silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016481 MONDO:0008394 True silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016481 MONDO:0016948 True silver-Russell syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016482 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016483 MONDO:0005291 True intracranial berry aneurysm brain aneurysm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016484 MONDO:0019501 True Usher syndrome type 2 Usher syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016485 MONDO:0019501 True Usher syndrome type 3 Usher syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016489 MONDO:0017145 True delta-beta-thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016490 MONDO:0017145 True hemoglobin C-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016491 MONDO:0017145 True hemoglobin E-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016496 MONDO:0016218 True pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016497 MONDO:0016218 True paraparetic variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016498 MONDO:0016218 True acute pure sensory neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016499 MONDO:0016218 True acute pandysautonomia Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016500 MONDO:0016218 True acute sensory ataxic neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016501 MONDO:0017014 True Hermansky-Pudlak syndrome with pulmonary fibrosis interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016501 MONDO:0019312 True Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016502 MONDO:0019312 True Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016503 MONDO:0019268 True congenital erosive and vesicular dermatosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016505 MONDO:0003924 True aldosterone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016511 MONDO:0019755 True infectious embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016512 MONDO:0002254 True Kabuki syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016512 MONDO:0015159 True Kabuki syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016514 MONDO:0017610 True epidermolysis bullosa simplex with anodontia/hypodontia epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016515 MONDO:0015770 True Kallmann syndrome-heart disease syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016516 MONDO:0002254 True Kenny-Caffey syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016527 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0000414 True Lennox-Gastaut syndrome childhood electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0020072 True Lennox-Gastaut syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016533 MONDO:0007099 True apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016534 MONDO:0019835 True infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016537 MONDO:0003778 True lymphoproliferative syndrome inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016539 MONDO:0011669 True atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016540 MONDO:0020115 True congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016541 MONDO:0020115 True acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016542 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016544 MONDO:0017287 True IgG4-related mesenteritis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016547 MONDO:0007534 True Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016549 MONDO:0018960 True primary megaureter, adult-onset form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016550 MONDO:0018960 True congenital primary megaureter, obstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016551 MONDO:0018960 True congenital primary megaureter, refluxing form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016552 MONDO:0018960 True congenital primary megaureter, nonrefluxing and unobstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016553 MONDO:0015770 True isolated congenital hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016555 MONDO:0015792 True transient congenital hypothyroidism due to maternal factor transient congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016556 MONDO:0015792 True transient congenital hypothyroidism due to neonatal factor transient congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016557 MONDO:0019284 True leukonychia totalis inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016558 MONDO:0005395 True familial congenital mirror movements movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016559 MONDO:0018174 True glaucoma secondary to spherophakia/ectopia lentis and megalocornea hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016561 MONDO:0022756 True 1q44 microdeletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016562 MONDO:0020488 True progressive supranuclear palsy-pure akinesia with gait freezing syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016563 MONDO:0020488 True progressive supranuclear palsy-corticobasal syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016564 MONDO:0020488 True progressive supranuclear palsy-progressive non-fluent aphasia syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016566 MONDO:0016075 True loiasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0016567 MONDO:0005071 True locked-in syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016570 MONDO:0017207 True primary pulmonary lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0015159 True macrocephaly-short stature-paraplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0020022 True macrocephaly-short stature-paraplegia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016574 MONDO:0019288 True hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016575 MONDO:0002254 True primary ciliary dyskinesia syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016575 MONDO:0005308 True primary ciliary dyskinesia ciliopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016576 MONDO:0018234 True split hand-foot malformation dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016581 MONDO:0019512 True conotruncal heart malformations congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016582 MONDO:0019512 True congenital mitral malformation congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0015161 True mandibuloacral dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0019707 True mandibuloacral dysplasia primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0020087 True mandibuloacral dysplasia hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016586 MONDO:0007950 True systemic mastocytosis mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016587 MONDO:0000591 True arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016595 MONDO:0005119 True inhalational anthrax anthrax infection SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0015327 True hyperphosphatasia-intellectual disability syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0017748 True hyperphosphatasia-intellectual disability syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0019054 True hyperphosphatasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016598 MONDO:0016540 True autosomal recessive secondary polycythemia not associated with VHL gene congenital secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016600 MONDO:0008988 True acute neonatal citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016601 MONDO:0008988 True adult-onset citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016602 MONDO:0015991 True citrin deficiency citrullinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016603 MONDO:0016602 True citrullinemia type II citrin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016605 MONDO:0018570 True perinatal lethal hypophosphatasia hypophosphatasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016607 MONDO:0018570 True odontohypophosphatasia hypophosphatasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016609 MONDO:0020122 True inflammatory myopathy with abundant macrophages acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016610 MONDO:0020122 True idiopathic eosinophilic myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016611 MONDO:0044983 True lipoblastoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016612 MONDO:0000425 True X-linked cerebellar ataxia X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016614 MONDO:0020044 True autosomal recessive ataxia due to PEX10 deficiency autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016619 MONDO:0016535 True autosomal recessive hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016620 MONDO:0002254 True primary hypertrophic osteoarthropathy syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016622 MONDO:0018234 True Melhem-Fahl syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016641 MONDO:0018234 True limb transversal defect-cardiac anomaly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016641 MONDO:0019054 True limb transversal defect-cardiac anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016642 MONDO:0016743 True meningioma tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016643 MONDO:0018234 True frontonasal dysplasia dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016644 MONDO:0019806 True logopenic progressive aphasia primary progressive aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016646 MONDO:0016387 True autosomal dominant optic atrophy and peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016646 MONDO:0020250 True autosomal dominant optic atrophy and peripheral neuropathy autosomal dominant optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016648 MONDO:0005516 True multiple epiphyseal dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016648 MONDO:0018230 True multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0006025 True Warburg micro syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0015159 True Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0018838 True Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016652 MONDO:0016901 True 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016653 MONDO:0016901 True 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016655 MONDO:0016888 True 6p22 microdeletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016656 MONDO:0016906 True 7q31 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016657 MONDO:0016890 True 8p11.2 deletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016658 MONDO:0016890 True 8p23.1 microdeletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016659 MONDO:0016945 True 8p23.1 duplication syndrome partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016660 MONDO:0006025 True autosomal recessive primary microcephaly autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016660 MONDO:0016056 True autosomal recessive primary microcephaly isolated congenital microcephaly SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016661 MONDO:0019751 True infantile onset panniculitis with uveitis and systemic granulomatosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016662 MONDO:0019751 True idiopathic recurrent pericarditis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016664 MONDO:0018640 True drug-induced vasculitis secondary vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016668 MONDO:0019050 True sickle cell-beta-thalassemia disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016670 MONDO:0019050 True sickle cell-hemoglobin d disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016671 MONDO:0019050 True sickle cell-hemoglobin E disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016672 MONDO:0019050 True hereditary persistence of fetal hemoglobin-sickle cell disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016674 MONDO:0020040 True 46,XY partial gonadal dysgenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016675 MONDO:0019942 True distal arthrogryposis type 10 distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016676 MONDO:0017764 True recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016677 MONDO:0019755 True toxic or drug-related embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016680 MONDO:0021636 True high grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016680 MONDO:0100342 True high grade astrocytic tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016683 MONDO:0016680 True gliomatosis cerebri high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016684 MONDO:0016680 True anaplastic astrocytoma high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016684 MONDO:0019781 True anaplastic astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016684 MONDO:0020633 True anaplastic astrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016686 MONDO:0016685 True diffuse astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016686 MONDO:0021639 True diffuse astrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016687 MONDO:0016686 True protoplasmic astrocytoma diffuse astrocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016688 MONDO:0016686 True fibrillary astrocytoma diffuse astrocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016689 MONDO:0016686 True gemistocytic astrocytoma diffuse astrocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016690 MONDO:0016685 True pleomorphic xanthoastrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016691 MONDO:0016685 True pilocytic astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016692 MONDO:0016691 True pilomyxoid astrocytoma pilocytic astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016693 MONDO:0007667 True subependymal giant cell astrocytoma subependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016693 MONDO:0016685 True subependymal giant cell astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016695 MONDO:0018744 True oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016695 MONDO:0021639 True oligodendroglioma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016696 MONDO:0018744 True anaplastic oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016696 MONDO:0020633 True anaplastic oligodendroglioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016696 MONDO:0021640 True anaplastic oligodendroglioma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016698 MONDO:0003266 True ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016698 MONDO:0021639 True ependymoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016699 MONDO:0003266 True myxopapillary ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016700 MONDO:0003266 True anaplastic ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016700 MONDO:0020633 True anaplastic ependymoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016700 MONDO:0021640 True anaplastic ependymoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016702 MONDO:0003268 True oligoastrocytoma mixed glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016702 MONDO:0021639 True oligoastrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016703 MONDO:0005853 True anaplastic oligoastrocytoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016703 MONDO:0020633 True anaplastic oligoastrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016703 MONDO:0021640 True anaplastic oligoastrocytoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016705 MONDO:0021637 True angiocentric glioma low grade glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016706 MONDO:0002682 True chordoid glioma of the third ventricle cerebral ventricle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016707 MONDO:0021042 True astroblastoma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016709 MONDO:0007959 True anaplastic/large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016710 MONDO:0007959 True medulloblastoma with extensive nodularity medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016711 MONDO:0007959 True desmoplastic/nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016712 MONDO:0007959 True classic medulloblastoma medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016713 MONDO:0002714 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016713 MONDO:0021038 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016715 MONDO:0000640 True ependymoblastoma central nervous system primitive neuroectodermal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016717 MONDO:0021211 True choroid plexus neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016718 MONDO:0002681 True choroid plexus carcinoma choroid plexus cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016718 MONDO:0004993 True choroid plexus carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016719 MONDO:0015159 True microcephaly-seizures-intellectual disability-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016722 MONDO:0003249 True pineoblastoma pineal gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016722 MONDO:0005564 True pineoblastoma embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016723 MONDO:0000627 True pineocytoma benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016723 MONDO:0021451 True pineocytoma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016723 MONDO:0024890 True pineocytoma pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016724 MONDO:0021193 True papillary tumor of the pineal region neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016724 MONDO:0021232 True papillary tumor of the pineal region pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016727 MONDO:0016729 True extraventricular neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016729 MONDO:0021193 True mixed neuronal-glial tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016730 MONDO:0016729 True gangliocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016731 MONDO:0016729 True desmoplastic infantile astrocytoma/ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016733 MONDO:0016729 True ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016735 MONDO:0016729 True papillary glioneuronal tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016736 MONDO:0016729 True rosette-forming glioneuronal tumor of fourth ventricule mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016739 MONDO:0005744 True yolk sac tumor of central nervous system yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016740 MONDO:0002714 True choriocarcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016740 MONDO:0003578 True choriocarcinoma of the central nervous system extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016740 MONDO:0005207 True choriocarcinoma of the central nervous system choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016740 MONDO:0020574 True choriocarcinoma of the central nervous system central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016742 MONDO:0002714 True mixed germ cell tumor of central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016742 MONDO:0003000 True mixed germ cell tumor of central nervous system central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016743 MONDO:0006130 True tumor of meninges central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016745 MONDO:0016743 True diffuse leptomeningeal melanocytosis tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016746 MONDO:0003222 True meningeal melanocytoma central nervous system melanocytic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016747 MONDO:0003222 True primary melanoma of the central nervous system central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016747 MONDO:0006320 True primary melanoma of the central nervous system non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016750 MONDO:0015159 True microcephaly-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016751 MONDO:0021089 True malignant perineurioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016752 MONDO:0016749 True benign peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016755 MONDO:0002547 True neurofibroma nerve sheath neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016755 MONDO:0016752 True neurofibroma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016759 MONDO:0016113 True pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016759 MONDO:0020135 True pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016759 MONDO:0024257 True pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016760 MONDO:0015159 True microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016761 MONDO:0005516 True spondyloepiphyseal dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016763 MONDO:0018230 True spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016765 MONDO:0016897 True 19p13.12 microdeletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016776 MONDO:0004907 True frontal fibrosing alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016777 MONDO:0005498 True inhalational botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016778 MONDO:0005498 True iatrogenic botulism botulism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016779 MONDO:0015159 True multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016780 MONDO:0014541 True paternal 14q32.2 microdeletion syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016780 MONDO:0016912 True paternal 14q32.2 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016781 MONDO:0016779 True maternal 14q32.2 microdeletion syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016782 MONDO:0014541 True paternal 14q32.2 hypomethylation syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016783 MONDO:0016779 True maternal 14q32.2 hypermethylation syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016785 MONDO:0006248 True complete hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016786 MONDO:0006248 True partial hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016787 MONDO:0018944 True epithelioid trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016789 MONDO:0019243 True pyruvate metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016790 MONDO:0019243 True tricarboxylic acid cycle disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016796 MONDO:0018158 True mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016798 MONDO:0016387 True ataxia neuropathy spectrum mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016800 MONDO:0004069 True mitochondrial membrane transport disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016801 MONDO:0016800 True mitochondrial substrate carrier disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016802 MONDO:0016800 True mitochondrial protein import disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016806 MONDO:0016387 True maternally-inherited mitochondrial dystonia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016810 MONDO:0005181 True autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016817 MONDO:0002254 True Meier-Gorlin syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016819 MONDO:0015770 True Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016820 MONDO:0006693 True Moyamoya disease cerebral arterial disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016823 MONDO:0005550 True mycetoma infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0016824 MONDO:0003342 True infantile myofibromatosis benign perivascular tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016825 MONDO:0009637 True mitochondrial myopathy-lactic acidosis-deafness syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0016624 True methylmalonic aciduria and homocystinuria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0019215 True methylmalonic aciduria and homocystinuria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016826 MONDO:0019220 True methylmalonic aciduria and homocystinuria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016828 MONDO:0020099 True autosomal recessive sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016830 MONDO:0016106 True Emery-Dreifuss muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016830 MONDO:0016333 True Emery-Dreifuss muscular dystrophy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016833 MONDO:0016912 True 14q12 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016834 MONDO:0016949 True 16p11.2p12.2 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016835 MONDO:0016964 True 14q11.2 microduplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016836 MONDO:0016894 True 16p13.11 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016837 MONDO:0016949 True 16p13.11 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016838 MONDO:0016914 True 16q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016839 MONDO:0022754 True distal 17p13.3 microdeletion syndrome chromosome 17p deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016840 MONDO:0016950 True trisomy 17p partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016841 MONDO:0016898 True 20p12.3 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016842 MONDO:0016918 True paternal 20q13.2q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016843 MONDO:0016918 True 20q13.33 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016844 MONDO:0016938 True trisomy 20p partial trisomy of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016845 MONDO:0016919 True 21q22.11q22.12 microdeletion syndrome partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016847 MONDO:0016952 True trisomy 1q partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016850 MONDO:0017004 True atypical Norrie disease due to monosomy Xp11.3 partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016855 MONDO:0009341 True Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016855 MONDO:0016901 True Mowat-Wilson syndrome due to monosomy 2q22 partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016856 MONDO:0009341 True Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016860 MONDO:0016904 True familial adenomatous polyposis due to 5q22.2 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016860 MONDO:0021055 True familial adenomatous polyposis due to 5q22.2 microdeletion classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016861 MONDO:0007318 True Alagille syndrome due to 20p12 microdeletion Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016861 MONDO:0016898 True Alagille syndrome due to 20p12 microdeletion partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016862 MONDO:0007318 True Alagille syndrome due to a JAG1 point mutation Alagille syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016863 MONDO:0011812 True Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016863 MONDO:0016918 True Okihiro syndrome due to 20q13 microdeletion partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016864 MONDO:0011812 True Okihiro syndrome due to a point mutation Duane-radial ray syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016865 MONDO:0012455 True Kleefstra syndrome due to a point mutation Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016877 MONDO:0017277 True partial deletion of the long arm of chromosome 12 partial deletion of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016883 MONDO:0016866 True partial deletion of the short arm of chromosome 1 partial deletion of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016884 MONDO:0016867 True partial deletion of the short arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016885 MONDO:0016868 True partial deletion of the short arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016887 MONDO:0016870 True partial deletion of the short arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016888 MONDO:0016871 True partial deletion of the short arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016889 MONDO:0016872 True partial deletion of the short arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016890 MONDO:0016873 True partial deletion of the short arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016892 MONDO:0016875 True partial deletion of the short arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016893 MONDO:0016876 True partial deletion of the short arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016894 MONDO:0016878 True partial deletion of the short arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016897 MONDO:0016881 True partial deletion of the short arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016898 MONDO:0016882 True partial monosomy of the short arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016901 MONDO:0016867 True partial deletion of the long arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016902 MONDO:0016868 True partial deletion of the long arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016903 MONDO:0016869 True partial deletion of the long arm of chromosome 4 partial deletion of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016904 MONDO:0016870 True partial deletion of the long arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016905 MONDO:0016871 True partial deletion of the long arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016906 MONDO:0016872 True partial deletion of the long arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016907 MONDO:0016873 True partial deletion of the long arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016908 MONDO:0016874 True partial monosomy of the long arm of chromosome 9 partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016909 MONDO:0016875 True partial monosomy of the long arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016910 MONDO:0016876 True partial deletion of the long arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016914 MONDO:0016878 True partial deletion of the long arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016915 MONDO:0016879 True partial deletion of the long arm of chromosome 17 partial deletion of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016917 MONDO:0016881 True partial deletion of the long arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016918 MONDO:0016882 True partial deletion of the long arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016939 MONDO:0016922 True partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016940 MONDO:0016923 True partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016941 MONDO:0016924 True partial duplication of the short arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016942 MONDO:0016925 True partial trisomy/tetrasomy of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016943 MONDO:0016927 True partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016944 MONDO:0016928 True partial duplication of the short arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016945 MONDO:0016929 True partial duplication of the short arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016947 MONDO:0016931 True partial duplication of the short arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016948 MONDO:0016932 True partial duplication of the short arm of chromosome 11 partial duplication of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016949 MONDO:0016934 True partial duplication of the short arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016950 MONDO:0016935 True partial duplication of the short arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016951 MONDO:0016936 True partial trisomy/tetrasomy of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016952 MONDO:0016921 True partial duplication of the long arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016953 MONDO:0016922 True partial duplication of the long arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016954 MONDO:0016923 True partial duplication of the long arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016955 MONDO:0016924 True partial duplication of the long arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016956 MONDO:0016925 True partial trisomy of the long arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016957 MONDO:0016927 True partial duplication of the long arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016958 MONDO:0016928 True partial duplication of the long arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016959 MONDO:0016929 True partial duplication of the long arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016960 MONDO:0016930 True partial trisomy of the long arm of chromosome 9 partial trisomy/tetrasomy of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016961 MONDO:0016931 True partial duplication of the long arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016966 MONDO:0016934 True partial trisomy of the long arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016967 MONDO:0016935 True partial duplication of the long arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016968 MONDO:0016936 True partial trisomy of the long arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016969 MONDO:0016937 True partial duplication of the long arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016970 MONDO:0016938 True partial trisomy of the long arm of chromosome 20 partial trisomy of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016971 MONDO:0016106 True limb-girdle muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016974 MONDO:0006456 True thymoma type B thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016975 MONDO:0006456 True thymoma type AB thymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016976 MONDO:0020516 True well-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016977 MONDO:0020516 True moderately-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016978 MONDO:0020516 True poorly differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016979 MONDO:0019118 True MRCS syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016981 MONDO:0017578 True infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016982 MONDO:0002095 True angiosarcoma vascular cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016982 MONDO:0018078 True angiosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016987 MONDO:0015548 True neuroacanthocytosis Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016988 MONDO:0015624 True hyperinsulinism due to HNF4A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016989 MONDO:0002254 True Fuchs heterochromic iridocyclitis syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016989 MONDO:0017634 True Fuchs heterochromic iridocyclitis non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016995 MONDO:0016743 True familial multiple meningioma tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017004 MONDO:0017003 True partial monosomy of the short arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017007 MONDO:0017003 True partial deletion of the long arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017009 MONDO:0017008 True partial duplication of the short arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017010 MONDO:0017008 True partial duplication of the long arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017012 MONDO:0016921 True partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017013 MONDO:0016945 True trisomy 8p partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017014 MONDO:0015925 True interstitial lung disease specific to childhood interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017015 MONDO:0017014 True primary interstitial lung disease specific to childhood interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017018 MONDO:0015925 True isolated pulmonary capillaritis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017019 MONDO:0017015 True interstitial lung disease specific to infancy primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017025 MONDO:0018310 True Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017026 MONDO:0015925 True interstitial lung disease specific to adulthood interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017029 MONDO:0018310 True Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017039 MONDO:0015925 True drug or radiation exposure-related interstitial lung disease interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017042 MONDO:0005516 True thanatophoric dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017042 MONDO:0019685 True thanatophoric dysplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017043 MONDO:0005564 True congenital mesoblastic nephroma embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017043 MONDO:0036511 True congenital mesoblastic nephroma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017044 MONDO:0019741 True adult familial nephronophthisis-spastic quadriparesia syndrome familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017050 MONDO:0005564 True intraocular medulloepithelioma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017050 MONDO:0021220 True intraocular medulloepithelioma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017051 MONDO:0009563 True classic maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017052 MONDO:0009563 True intermediate maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017053 MONDO:0009563 True intermittent maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017054 MONDO:0009563 True thiamine-responsive maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017055 MONDO:0016677 True mycophenolate mofetil embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017056 MONDO:0013578 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017056 MONDO:0016919 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017058 MONDO:0018778 True autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017060 MONDO:0018968 True open iniencephaly iniencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017061 MONDO:0018968 True closed iniencephaly iniencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017062 MONDO:0019351 True spina bifida aperta isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017069 MONDO:0019351 True spina bifida cystica isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017076 MONDO:0017069 True posterior meningocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017077 MONDO:0017069 True myelocystocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0017078 True meningoencephalocele cephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017080 MONDO:0016057 True occipital encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017081 MONDO:0016057 True parietal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017082 MONDO:0016057 True basal encephalocele isolated encephalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017086 MONDO:0018075 True primary tethered cord syndrome neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017087 MONDO:0018075 True neurenteric cyst neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017088 MONDO:0018075 True isolated amyelia neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017089 MONDO:0016608 True isolated megalencephaly megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017091 MONDO:0000087 True bilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017092 MONDO:0000087 True unilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017093 MONDO:0017092 True unilateral focal polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017095 MONDO:0019009 True isolated focal cortical dysplasia type I isolated focal cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017096 MONDO:0017095 True isolated focal cortical dysplasia type Ia isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017097 MONDO:0017095 True isolated focal cortical dysplasia type Ib isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017098 MONDO:0017095 True isolated focal cortical dysplasia type Ic isolated focal cortical dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017100 MONDO:0015134 True neutropenia-monocytopenia-deafness syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017101 MONDO:0011818 True isolated focal cortical dysplasia type IIa isolated focal cortical dysplasia type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017102 MONDO:0011818 True isolated focal cortical dysplasia type IIb isolated focal cortical dysplasia type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017105 MONDO:0020022 True glioependymal/ependymal cyst central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017107 MONDO:0020022 True isolated cerebellar vermis agenesis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017108 MONDO:0017107 True isolated total cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017109 MONDO:0017107 True isolated partial cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017110 MONDO:0009072 True isolated Dandy-Walker malformation with hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017111 MONDO:0009072 True isolated Dandy-Walker malformation without hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017112 MONDO:0020022 True isolated unilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017113 MONDO:0020022 True isolated bilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017116 MONDO:0016349 True congenital communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017117 MONDO:0016349 True congenital non-communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0002254 True arthrogryposis-renal dysfunction-cholestasis syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0017755 True arthrogryposis-renal dysfunction-cholestasis syndrome inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017124 MONDO:0004848 True noma ulcerative stomatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017134 MONDO:0019287 True odonto-onycho dysplasia-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017136 MONDO:0018230 True omodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017137 MONDO:0016075 True onchocerciasis filariasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017138 MONDO:0002254 True Opitz G/BBB syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017138 MONDO:0003847 True Opitz G/BBB syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017138 MONDO:0008537 True Opitz G/BBB syndrome telecanthus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017138 MONDO:0015159 True Opitz G/BBB syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017139 MONDO:0015498 True oromandibular-limb hypogenesis syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017145 MONDO:0019050 True beta-thalassemia and related diseases inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017147 MONDO:0015924 True idiopathic pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017148 MONDO:0015924 True heritable pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017149 MONDO:0015924 True drug- or toxin-induced pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017160 MONDO:0017276 True behavioral variant of frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017161 MONDO:0015547 True frontotemporal dementia with motor neuron disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017161 MONDO:0024237 True frontotemporal dementia with motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017162 MONDO:0018234 True imperforate oropharynx-costo vetebral anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017165 MONDO:0019218 True bile acid CoA ligase deficiency and defective amidation inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017169 MONDO:0015079 True multiple endocrine neoplasia multiple polyglandular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017171 MONDO:0009661 True mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017172 MONDO:0009661 True mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017174 MONDO:0007182 True Machado-Joseph disease type 1 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017175 MONDO:0007182 True Machado-Joseph disease type 2 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017176 MONDO:0007182 True Machado-Joseph disease type 3 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017177 MONDO:0019716 True hemihyperplasia-multiple lipomatosis syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017177 MONDO:0019755 True hemihyperplasia-multiple lipomatosis syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017180 MONDO:0016961 True 10q22.3q23.3 microduplication syndrome partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017182 MONDO:0005803 True familial hyperinsulinism hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017183 MONDO:0015624 True hyperinsulinism due to UCP2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017184 MONDO:0015624 True autosomal dominant hyperinsulinism due to SUR1 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017185 MONDO:0015624 True autosomal dominant hyperinsulinism due to Kir6.2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017186 MONDO:0019010 True diazoxide-resistant hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017187 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017188 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017189 MONDO:0017182 True adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017194 MONDO:0005516 True Blount disease osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017194 MONDO:0019698 True Blount disease bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017195 MONDO:0002254 True Bruck syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017195 MONDO:0018230 True Bruck syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017197 MONDO:0019289 True osteopathia striata-pigmentary dermopathy-white forelock syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017198 MONDO:0018230 True osteopetrosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017202 MONDO:0004863 True acute endophthalmitis purulent endophthalmitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017203 MONDO:0004863 True chronic endophthalmitis purulent endophthalmitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017205 MONDO:0017207 True primary oculocerebral lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017207 MONDO:0005062 True primary organ-specific lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017209 MONDO:0001280 True infectious posterior uveitis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017210 MONDO:0004773 True infectious anterior uveitis iridocyclitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017211 MONDO:0017255 True infectious panuveitis panuveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017212 MONDO:0001280 True paraneoplastic uveitis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017214 MONDO:0019215 True vitamin B12-responsive methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017214 MONDO:0019220 True vitamin B12-responsive methylmalonic acidemia inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0002123 True calciphylaxis calcinosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017216 MONDO:0017215 True calciphylaxis cutis calciphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017216 MONDO:0019293 True calciphylaxis cutis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017217 MONDO:0017215 True visceral calciphylaxis calciphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017220 MONDO:0016060 True laryngotracheoesophageal cleft type 0 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017221 MONDO:0010714 True Pelizaeus-Merzbacher disease, connatal form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017222 MONDO:0010714 True Pelizaeus-Merzbacher disease, classic form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017223 MONDO:0010714 True Pelizaeus-Merzbacher disease, transitional form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017224 MONDO:0010714 True Pelizaeus-Merzbacher disease in female carriers Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017225 MONDO:0010714 True null syndrome Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017226 MONDO:0019046 True Pelizaeus-Merzbacher-like disease leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017227 MONDO:0015175 True autoimmune pancreatitis type 1 autoimmune pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017228 MONDO:0015175 True autoimmune pancreatitis type 2 autoimmune pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017229 MONDO:0022174 True distal monosomy 12p chromosome 12p deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017230 MONDO:0020088 True autosomal semi-dominant severe lipodystrophic laminopathy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017231 MONDO:0019142 True erythropoietic uroporphyria associated with myeloid malignancy inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017236 MONDO:0002462 True rapidly progressive glomerulonephritis glomerulonephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017238 MONDO:0019050 True hemoglobinopathy Toms River inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017242 MONDO:0019293 True cutaneous collagenous vasculopathy skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017243 MONDO:0019315 True bullous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017244 MONDO:0019315 True pseudoxanthomatous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017245 MONDO:0017843 True intralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017246 MONDO:0017843 True extralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017247 MONDO:0017843 True communicating congenital bronchopulmonary-foregut malformation congenital pulmonary sequestration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017248 MONDO:0016580 True congenital pulmonary airway malformation type 0 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017249 MONDO:0016580 True congenital pulmonary airway malformation type 1 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017250 MONDO:0016580 True congenital pulmonary airway malformation type 2 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017251 MONDO:0016580 True congenital pulmonary airway malformation type 3 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017252 MONDO:0016580 True congenital pulmonary airway malformation type 4 congenital pulmonary airway malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017255 MONDO:0020283 True panuveitis uveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017257 MONDO:0020283 True idiopathic posterior uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017258 MONDO:0017255 True idiopathic panuveitis panuveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017264 MONDO:0017269 True syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017265 MONDO:0015947 True autosomal recessive congenital ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017266 MONDO:0015947 True keratinopathic ichthyosis inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017267 MONDO:0017265 True self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017268 MONDO:0017265 True acral self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017275 MONDO:0015087 True spastic paraplegia-facial-cutaneous lesions syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017276 MONDO:0015547 True frontotemporal dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017276 MONDO:0024237 True frontotemporal dementia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017278 MONDO:0000569 True autoimmune polyendocrinopathy autoimmune disorder of endocrine system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017278 MONDO:0015126 True autoimmune polyendocrinopathy polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017279 MONDO:0005180 True young-onset Parkinson disease Parkinson disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017282 MONDO:0005738 True alveolar echinococcosis echinococcosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017283 MONDO:0016892 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017283 MONDO:0018760 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DeSanto-Shinawi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017284 MONDO:0015159 True Xp22.13p22.2 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017284 MONDO:0017009 True Xp22.13p22.2 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017286 MONDO:0002254 True tempi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017287 MONDO:0007179 True IgG4-related disease autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017289 MONDO:0011014 True fetal lung interstitial tumor pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017292 MONDO:0005061 True well-differentiated fetal adenocarcinoma of the lung lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017292 MONDO:0005606 True well-differentiated fetal adenocarcinoma of the lung tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017295 MONDO:0018459 True glycerol kinase deficiency, juvenile form isolated glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017296 MONDO:0018459 True glycerol kinase deficiency, adult form isolated glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017300 MONDO:0019512 True congenital pericardium anomaly congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017303 MONDO:0016139 True qualitative or quantitative defects of tropomyosin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017304 MONDO:0018134 True ocular albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017305 MONDO:0019290 True syndromic oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017306 MONDO:0019189 True disorder of phenylalanine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017306 MONDO:0019235 True disorder of phenylalanine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017307 MONDO:0019189 True disorder of tyrosine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017307 MONDO:0019235 True disorder of tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0006025 True Perrault syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0016387 True Perrault syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017312 MONDO:0019852 True Perrault syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017313 MONDO:0017758 True disorder of folate metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017314 MONDO:0020066 True Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017315 MONDO:0015159 True short stature-webbed neck-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017317 MONDO:0019755 True phakomatosis pigmentokeratotica developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017318 MONDO:0019289 True phakomatosis pigmentovascularis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017318 MONDO:0019755 True phakomatosis pigmentovascularis developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017319 MONDO:0003664 True hereditary elliptocytosis hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0017320 MONDO:0019225 True phosphoenolpyruvate carboxykinase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017321 MONDO:0019287 True pili torti-onychodysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017323 MONDO:0017322 True hypocalcemic rickets disorders of vitamin D metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017324 MONDO:0000044 True autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017324 MONDO:0006025 True autosomal recessive hypophosphatemic rickets autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017325 MONDO:0020072 True early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017327 MONDO:0018171 True primary non-gestational choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017328 MONDO:0005440 True non-central nervous system-localized embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017332 MONDO:0019751 True pyoderma gangrenosum-acne-suppurative hidradenitis syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017334 MONDO:0016877 True 12q15q21.1 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017335 MONDO:0015159 True microtriplication 11q24.1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017335 MONDO:0022173 True microtriplication 11q24.1 chromosome 11q trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017337 MONDO:0015129 True inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017338 MONDO:0018424 True fatal multiple mitochondrial dysfunctions syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017339 MONDO:0017265 True exfoliative ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017340 MONDO:0005586 True juvenile nasopharyngeal angiofibroma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017342 MONDO:0017341 True Epstein-Barr virus-related tumor virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017343 MONDO:0017342 True Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017344 MONDO:0017342 True Epstein-Barr virus-associated carcinoma Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017345 MONDO:0017342 True Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr virus-related tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017346 MONDO:0017343 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0017343 True plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017348 MONDO:0017344 True lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017349 MONDO:0002604 True myopericytoma pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017349 MONDO:0017345 True myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017350 MONDO:0019189 True inborn disorder of tryptophan metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017352 MONDO:0019189 True disorder of glutamine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017353 MONDO:0011612 True neonatal glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017354 MONDO:0011612 True infantile glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017355 MONDO:0019230 True inborn disorder of proline metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017356 MONDO:0019230 True inborn disorder of ornithine metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017359 MONDO:0019215 True 3-methylglutaconic aciduria classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017360 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut0 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017361 MONDO:0016511 True congenital rubella syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017362 MONDO:0015923 True neuralgic amyotrophy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017363 MONDO:0015927 True idiopathic chronic eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017364 MONDO:0015923 True POEMS syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0016511 True congenital varicella syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017373 MONDO:0020129 True poliomyelitis acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017375 MONDO:0016511 True congenital enterovirus infection infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017376 MONDO:0005578 True reactive arthritis arthritic joint disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017377 MONDO:0015159 True preaxial polydactyly-colobomata-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017380 MONDO:0015185 True juvenile polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017384 MONDO:0017396 True acute generalized exanthematous pustulosis toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017385 MONDO:0020070 True malignant migrating partial seizures of infancy neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017386 MONDO:0005212 True pleomorphic rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017387 MONDO:0018078 True epithelioid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017389 MONDO:0009861 True tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017391 MONDO:0020212 True Grayson-Wilbrandt corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017392 MONDO:0020213 True pre-descemet corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017393 MONDO:0015159 True blepharophimosis - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017395 MONDO:0017396 True fixed pigmented erythema toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017398 MONDO:0003847 True 3MC syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017398 MONDO:0015159 True 3MC syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017401 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017402 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017403 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017405 MONDO:0016883 True 1p21.3 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017406 MONDO:0015770 True hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017407 MONDO:0018762 True deficiency in anterior pituitary function - variable immunodeficiency syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0016511 True fetal cytomegalovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017410 MONDO:0017103 True porencephaly encephaloclastic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0019268 True neonatal inflammatory skin and bowel disease epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0019751 True neonatal inflammatory skin and bowel disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017415 MONDO:0015225 True multiple pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017416 MONDO:0017373 True postpoliomyelitis syndrome poliomyelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017419 MONDO:0018234 True non-syndromic amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017419 MONDO:0019713 True non-syndromic amelia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017435 MONDO:0002254 True popliteal pterygium syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017435 MONDO:0015225 True popliteal pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017436 MONDO:0003847 True lethal congenital contracture syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017436 MONDO:0015225 True lethal congenital contracture syndrome arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017437 MONDO:0017419 True amelia of upper limb non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017438 MONDO:0017419 True amelia of lower limb non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017439 MONDO:0017419 True tetra-amelia non-syndromic amelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017440 MONDO:0019713 True humeral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017441 MONDO:0018234 True congenital absence of upper arm and forearm with hand present dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017442 MONDO:0018234 True congenital absence of thigh and lower leg with foot present dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017443 MONDO:0018234 True congenital absence of both forearm and hand dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017444 MONDO:0018234 True congenital absence of both lower leg and foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017445 MONDO:0018234 True acheiria dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017446 MONDO:0018234 True apodia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017453 MONDO:0016511 True fetal parvovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017455 MONDO:0018234 True hyperphalangy dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017456 MONDO:0011348 True central polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017460 MONDO:0019530 True syndactyly type 6 non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017462 MONDO:0015525 True congenital pseudoarthrosis of the tibia congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017463 MONDO:0015525 True congenital pseudoarthrosis of the femur congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017464 MONDO:0015525 True congenital pseudoarthrosis of the fibula congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017465 MONDO:0015525 True congenital pseudoarthrosis of the radius congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017466 MONDO:0015525 True congenital pseudoarthrosis of the ulna congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017497 MONDO:0017442 True congenital absence of thigh and lower leg with foot present, bilateral congenital absence of thigh and lower leg with foot present UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017499 MONDO:0017443 True congenital absence of both forearm and hand, bilateral congenital absence of both forearm and hand UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017501 MONDO:0017444 True congenital absence of both lower leg and foot, bilateral congenital absence of both lower leg and foot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017543 MONDO:0008512 True zygodactyly type 2 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017544 MONDO:0008512 True zygodactyly type 3 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017545 MONDO:0008512 True zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017546 MONDO:0008652 True congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017547 MONDO:0008652 True congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017552 MONDO:0019782 True humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017553 MONDO:0019782 True humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017554 MONDO:0017985 True radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017555 MONDO:0017985 True radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017558 MONDO:0017469 True congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017559 MONDO:0017469 True congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017560 MONDO:0017470 True congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017561 MONDO:0017470 True congenital genu flexum congenital knee dislocation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017564 MONDO:0017474 True macrodactyly of fingers, unilateral macrodactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017565 MONDO:0017474 True macrodactyly of fingers, bilateral macrodactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017566 MONDO:0017475 True macrodactyly of toes, unilateral macrodactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017567 MONDO:0017475 True macrodactyly of toes, bilateral macrodactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017568 MONDO:0018234 True Prata-Liberal-Goncalves syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017569 MONDO:0006025 True de Barsy syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017569 MONDO:0019303 True de Barsy syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017570 MONDO:0006025 True leukocyte adhesion deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017570 MONDO:0015978 True leukocyte adhesion deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0017623 True Proteus-like syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017572 MONDO:0006009 True tick-borne encephalitis viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017573 MONDO:0017576 True 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0009637 True mitochondrial neurogastrointestinal encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0019238 True mitochondrial neurogastrointestinal encephalomyopathy inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0020127 True mitochondrial neurogastrointestinal encephalomyopathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017576 MONDO:0002145 True 46,XX disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017578 MONDO:0017758 True disorder of thiamine metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0002254 True Baraitser-Winter cerebrofrontofacial syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0015159 True Baraitser-Winter cerebrofrontofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017579 MONDO:0018838 True Baraitser-Winter cerebrofrontofacial syndrome lissencephaly spectrum disorders UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0015159 True 11p15.4 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0016948 True 11p15.4 microduplication syndrome partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017580 MONDO:0019716 True 11p15.4 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017582 MONDO:0002109 True pituitary adenocarcinoma pituitary cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017585 MONDO:0016752 True painful orbital and systemic neurofibromas-marfanoid habitus syndrome benign peripheral nerve sheath tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017586 MONDO:0017588 True onychocytic matricoma nail tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017587 MONDO:0017588 True onychomatricoma nail tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017590 MONDO:0000919 True carcinoma of the ampulla of vater ampulla of vater cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017591 MONDO:0002429 True combined pulmonary fibrosis-emphysema syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017594 MONDO:0015759 True indolent B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017595 MONDO:0015759 True aggressive B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017596 MONDO:0018905 True diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017596 MONDO:0044887 True diffuse large B-cell lymphoma of the central nervous system central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017597 MONDO:0018905 True T-cell/histiocyte rich large B cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017598 MONDO:0000607 True primary cutaneous anaplastic large cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017598 MONDO:0018897 True primary cutaneous anaplastic large cell lymphoma primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017598 MONDO:0020325 True primary cutaneous anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017598 MONDO:0020633 True primary cutaneous anaplastic large cell lymphoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017599 MONDO:0017604 True splenic diffuse red pulp small B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017600 MONDO:0018935 True hairy cell leukemia variant hairy cell leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017601 MONDO:0017343 True diffuse large B-cell lymphoma with chronic inflammation Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017601 MONDO:0018905 True diffuse large B-cell lymphoma with chronic inflammation diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017602 MONDO:0020325 True ALK-positive anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017603 MONDO:0020325 True ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017604 MONDO:0017594 True marginal zone lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017607 MONDO:0018075 True caudal regression sequence neural tube defect UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017610 MONDO:0019276 True epidermolysis bullosa simplex inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017611 MONDO:0002720 True pituitary tumor sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017611 MONDO:0003381 True pituitary tumor pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017612 MONDO:0019276 True junctional epidermolysis bullosa inherited epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017614 MONDO:0015159 True X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017615 MONDO:0000413 True benign familial infantile epilepsy infancy electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017615 MONDO:0015642 True benign familial infantile epilepsy benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017617 MONDO:0017769 True acquired adult-onset immunodeficiency acquired immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017623 MONDO:0019755 True PTEN hamartoma tumor syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017630 MONDO:0017140 True X-linked complicated spastic paraplegia type 1 L1 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017634 MONDO:0006651 True non-infectious anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017659 MONDO:0017658 True sporadic hyperekplexia hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017666 MONDO:0019272 True diffuse palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017668 MONDO:0015159 True intellectual disability-short stature-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017672 MONDO:0019272 True focal palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017675 MONDO:0019272 True punctate palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017677 MONDO:0017675 True focal acral hyperkeratosis punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017681 MONDO:0019270 True erythrokeratoderma variabilis progressiva erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017682 MONDO:0015159 True intellectual disability-polydactyly-uncombable hair syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017683 MONDO:0018964 True methylcobalamin deficiency type cblDv1 homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017684 MONDO:0019189 True disorder of beta and omega amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017685 MONDO:0017214 True vitamin B12-responsive methylmalonic acidemia, type cblDv2 vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017686 MONDO:0019052 True inborn aminoacylase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017687 MONDO:0019216 True disorder of neutral amino acid transport inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017688 MONDO:0019214 True disorder of glycolysis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017689 MONDO:0019214 True disorder of fructose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017690 MONDO:0019214 True disorder of galactose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017691 MONDO:0009257 True erythrocyte galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017692 MONDO:0009257 True generalized galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017694 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017695 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017696 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017697 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017698 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017699 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017700 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017701 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0015653 True familial partial epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0020072 True familial partial epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017704 MONDO:0020073 True familial partial epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017705 MONDO:0020295 True congenital pulmonary venous return anomaly congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017706 MONDO:0019214 True disorder of carbohydrate transmembrane transport and absorption inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0017953 True mevalonate kinase deficiency hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0019240 True mevalonate kinase deficiency sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017713 MONDO:0019223 True disorder of fatty acid oxidation and ketogenesis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017714 MONDO:0017713 True acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017715 MONDO:0017713 True 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017716 MONDO:0019223 True disorder of carnitine cycle and carnitine transport disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017719 MONDO:0019255 True gangliosidosis sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017720 MONDO:0017719 True GM2 gangliosidosis gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017720 MONDO:0024237 True GM2 gangliosidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017721 MONDO:0010006 True Sandhoff disease, infantile form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017722 MONDO:0010006 True Sandhoff disease, juvenile form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017723 MONDO:0010006 True Sandhoff disease, adult form Sandhoff disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017724 MONDO:0010100 True Tay-Sachs disease, b variant, infantile form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017725 MONDO:0010100 True Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017726 MONDO:0010100 True Tay-Sachs disease, B variant, adult form Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017727 MONDO:0020292 True fixed subaortic stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017731 MONDO:0002561 True glycoproteinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017732 MONDO:0009561 True alpha-mannosidosis, infantile form alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017733 MONDO:0009561 True alpha-mannosidosis, adult form alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017734 MONDO:0019251 True sialidosis oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017736 MONDO:0002561 True disorder of sialic acid metabolism lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017737 MONDO:0019366 True intermediate severe Salla disease free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017738 MONDO:0002561 True lysosomal glycogen storage disease lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017739 MONDO:0019052 True disorder of lysosomal-related organelles inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017740 MONDO:0015286 True disorder of protein N-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017741 MONDO:0015286 True disorder of protein O-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017747 MONDO:0017741 True disorder of fucoglycosan synthesis disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017748 MONDO:0015286 True inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017749 MONDO:0015286 True disorder of multiple glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017750 MONDO:0017749 True defect in conserved oligomeric Golgi complex disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017752 MONDO:0017749 True defect in V-ATPase disorder of multiple glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017754 MONDO:0019052 True inborn disorder of porphyrin metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017755 MONDO:0017754 True inborn disorder of bilirubin metabolism inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017757 MONDO:0019052 True disorder of metabolite absorption and transport inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017758 MONDO:0017757 True disorder of vitamin and non-protein cofactor absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017759 MONDO:0019219 True disorder of catecholamine synthesis inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017761 MONDO:0017757 True disorder of mineral absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017762 MONDO:0017761 True disorder of copper metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017763 MONDO:0017761 True disorder of iron metabolism and transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017764 MONDO:0017761 True disorder of zinc metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017765 MONDO:0017761 True disorder of magnesium transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017766 MONDO:0017761 True disorder of manganese transport disorder of mineral absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017768 MONDO:0100036 True reflex epilepsy variable age onset epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017771 MONDO:0002254 True Mayer-Rokitansky-Kuster-Hauser syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017771 MONDO:0015830 True Mayer-Rokitansky-Kuster-Hauser syndrome partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017774 MONDO:0001822 True hypobetalipoproteinemia hypolipoproteinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017775 MONDO:0000314 True melioidosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017776 MONDO:0000316 True nocardiosis opportunistic bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017779 MONDO:0019251 True alpha-N-acetylgalactosaminidase deficiency oligosaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017780 MONDO:0015159 True 20p13 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017780 MONDO:0016898 True 20p13 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017781 MONDO:0022174 True 12p12.1 microdeletion syndrome chromosome 12p deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017784 MONDO:0017344 True Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017786 MONDO:0016953 True 2q23.1 microduplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017788 MONDO:0015161 True contractures - webbed neck - micrognathia - hypoplastic nipples syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017790 MONDO:0018502 True gastric adenocarcinoma and proximal polyposis of the stomach hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017792 MONDO:0015159 True 7p22.1 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017792 MONDO:0016944 True 7p22.1 microduplication syndrome partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017793 MONDO:0019755 True marfanoid habitus-inguinal hernia-advanced bone age syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017794 MONDO:0017010 True Xq12-q13.3 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017795 MONDO:0021192 True ameloblastoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017805 MONDO:0015159 True intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0015159 True 15q overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0016965 True 15q overgrowth syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017806 MONDO:0019716 True 15q overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017810 MONDO:0018590 True variant ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017810 MONDO:0018634 True variant ABeta2M amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017811 MONDO:0016904 True severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017812 MONDO:0019716 True segmental progressive overgrowth syndrome with fibroadipose hyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017813 MONDO:0003847 True van Maldergem syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017813 MONDO:0015159 True van Maldergem syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017814 MONDO:0002129 True primary bone lymphoma bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017814 MONDO:0017207 True primary bone lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017815 MONDO:0017410 True acquired porencephaly porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017816 MONDO:0019438 True primary systemic amyloidosis AL amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017817 MONDO:0019438 True primary localized amyloidosis AL amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017822 MONDO:0003429 True mixed functioning pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017823 MONDO:0017822 True somatomammotropinoma mixed functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017824 MONDO:0006373 True familial isolated pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017825 MONDO:0019613 True silent pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017826 MONDO:0019613 True null pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0002547 True malignant peripheral nerve sheath tumor nerve sheath neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0016749 True malignant peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0021089 True malignant peripheral nerve sheath tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0008369 True autosomal dominant proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0015962 True autosomal dominant proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017830 MONDO:0010079 True severe Canavan disease Canavan disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017831 MONDO:0010079 True mild Canavan disease Canavan disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017833 MONDO:0015691 True primary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017834 MONDO:0015691 True secondary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017835 MONDO:0017834 True lymphocytic hypereosinophilic syndrome secondary hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017836 MONDO:0019270 True erythrokeratoderma en cocardes erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017838 MONDO:0002185 True sclerosteosis hyperostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017839 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017840 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017842 MONDO:0005308 True Senior-Loken syndrome ciliopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017842 MONDO:0006025 True Senior-Loken syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017844 MONDO:0000607 True Sezary syndrome primary cutaneous T-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017845 MONDO:0100309 True spastic ataxia hereditary ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017846 MONDO:0017845 True autosomal dominant spastic ataxia spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017847 MONDO:0017845 True autosomal recessive spastic ataxia spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017851 MONDO:0017666 True erythrokeratodermia variabilis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017853 MONDO:0015925 True hypersensitivity pneumonitis interstitial lung disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017855 MONDO:0015974 True T-B- severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017858 MONDO:0015667 True acute erythroid leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017858 MONDO:0020703 True acute erythroid leukemia erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017865 MONDO:0020292 True congenital pulmonary valve stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017866 MONDO:0017865 True subpulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017867 MONDO:0015159 True distal 17p13.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017869 MONDO:0018230 True chondroectodermal dysplasia with night blindness skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017869 MONDO:0019287 True chondroectodermal dysplasia with night blindness ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017870 MONDO:0017865 True supravalvular pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017871 MONDO:0019801 True bilateral massive adrenal hemorrhage acute adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017872 MONDO:0018087 True Lujo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017875 MONDO:0018087 True Bolivian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017876 MONDO:0018087 True Venezuelan hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017877 MONDO:0018087 True Brazilian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017878 MONDO:0018087 True Chapare hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0005275 True hantavirus pulmonary syndrome lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0018087 True hantavirus pulmonary syndrome viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017880 MONDO:0018087 True Rift valley fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017881 MONDO:0018087 True Kyasanur forest disease viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017882 MONDO:0018087 True Omsk hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017884 MONDO:0002512 True papillary renal cell carcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017884 MONDO:0005549 True papillary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017885 MONDO:0005549 True chromophobe renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017886 MONDO:0005086 True MIT family translocation renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017887 MONDO:0005549 True renal cell carcinoma associated with neuroblastoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017890 MONDO:0005549 True tubulocystic renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017892 MONDO:0015168 True autosomal recessive myogenic arthrogryposis multiplex congenita arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017892 MONDO:0019950 True autosomal recessive myogenic arthrogryposis multiplex congenita congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017893 MONDO:0018874 True inherited acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017894 MONDO:0018874 True acute myeloid leukemia with CEBPA somatic mutations acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017895 MONDO:0015447 True familial papillary or follicular thyroid carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017895 MONDO:0017896 True familial papillary or follicular thyroid carcinoma familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017896 MONDO:0015075 True familial nonmedullary thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017900 MONDO:0019146 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017901 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017902 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017903 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017905 MONDO:0019146 True X-linked Mendelian susceptibility to mycobacterial diseases inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017906 MONDO:0015301 True amyloidosis cutis dyschromia primary cutaneous amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017907 MONDO:0017207 True primary lymphoma of the conjunctiva primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017910 MONDO:0020102 True dehydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017913 MONDO:0019064 True pure or complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017917 MONDO:0015150 True maternally-inherited spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017919 MONDO:0019356 True exstrophy-epispadias complex urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017920 MONDO:0015159 True deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017923 MONDO:0003847 True multiple synostoses syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017923 MONDO:0019054 True multiple synostoses syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017925 MONDO:0003778 True T-cell immunodeficiency with epidermodysplasia verruciformis inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017927 MONDO:0019698 True severe lateral tibial bowing with short stature bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017931 MONDO:0016112 True hereditary inclusion body myopathy type 4 hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017932 MONDO:0015159 True muscular hypertrophy-hepatomegaly-polyhydramnios syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017933 MONDO:0016387 True hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017934 MONDO:0015159 True aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017935 MONDO:0015624 True hyperinsulinism due to HNF1A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017936 MONDO:0019952 True benign Samaritan congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017937 MONDO:0019548 True autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017939 MONDO:0018948 True classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017940 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017941 MONDO:0018093 True chikungunya arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017944 MONDO:0000827 True invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017951 MONDO:0019287 True trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017951 MONDO:0019695 True trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017953 MONDO:0015137 True hereditary periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017958 MONDO:0019751 True magic syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017967 MONDO:0020040 True testicular agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017968 MONDO:0020040 True 46,XY ovotesticular disorder of sex development 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017972 MONDO:0008725 True classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017973 MONDO:0008725 True non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017975 MONDO:0002145 True sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0002459 True autoimmune lymphoproliferative syndrome type IV hypersensitivity disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0016537 True autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017980 MONDO:0018234 True syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017990 MONDO:0000992 True catecholaminergic polymorphic ventricular tachycardia heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0015236 True Takayasu arteritis aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017992 MONDO:0019751 True autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017997 MONDO:0015159 True telecanthus-hypertelorism-strabismus-pes cavus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017998 MONDO:0018307 True PLA2G6-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0015150 True fatty acid hydroxylase-associated neurodegeneration complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0018117 True fatty acid hydroxylase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0018307 True fatty acid hydroxylase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0018234 True hereditary thrombocytosis with transverse limb defect dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0019054 True hereditary thrombocytosis with transverse limb defect congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018000 MONDO:0021181 True hereditary thrombocytosis with transverse limb defect inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018002 MONDO:0009637 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018002 MONDO:0016387 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018004 MONDO:0018872 True acute megakaryoblastic leukemia without down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018005 MONDO:0015087 True spastic paraplegia-Paget disease of bone syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018006 MONDO:0016108 True adult-onset distal myopathy due to VCP mutation autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018010 MONDO:0020122 True juvenile idiopathic inflammatory myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018011 MONDO:0018010 True juvenile overlap myositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018013 MONDO:0018904 True non-immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018014 MONDO:0017714 True transient neonatal multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018016 MONDO:0015066 True classic neuroendocrine tumor of appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0002120 True goblet cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0003196 True goblet cell carcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0015066 True goblet cell carcinoma neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018018 MONDO:0016345 True wild type ATTR amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018018 MONDO:0019065 True wild type ATTR amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018022 MONDO:0017145 True hemoglobin Lepore-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018026 MONDO:0019934 True tetraploidy syndrome polyploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018027 MONDO:0019040 True duplication/inversion 15q11 chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018028 MONDO:0016942 True tetrasomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018031 MONDO:0045071 True granulomatous slack skin disease mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0016677 True thalidomide embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0018234 True thalidomide embryopathy dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0019054 True thalidomide embryopathy congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018037 MONDO:0002468 True hyper-IgE syndrome hyperimmunoglobulin syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018039 MONDO:0001342 True selective IgM deficiency dysgammaglobulinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018043 MONDO:0015161 True Thomas syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018045 MONDO:0020022 True Hoyeraal-Hreidarsson syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018047 MONDO:0021181 True familial thrombomodulin anomalies inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018050 MONDO:0018234 True tibial aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018050 MONDO:0019054 True tibial aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018053 MONDO:0019287 True trichothiodystrophy ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018054 MONDO:0004981 True familial atrial fibrillation atrial fibrillation SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018055 MONDO:0006517 True pediatric hepatocellular carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018055 MONDO:0007256 True pediatric hepatocellular carcinoma hepatocellular carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018056 MONDO:0006572 True bullous lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0018059 MONDO:0006670 True meningococcal meningitis bacterial meningitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018061 MONDO:0019287 True trichodermodysplasia-dental alterations syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018063 MONDO:0006591 True nodular non-suppurative panniculitis panniculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018063 MONDO:0019296 True nodular non-suppurative panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018064 MONDO:0015338 True trigonocephaly-broad thumbs syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018065 MONDO:0015337 True isolated trigonocephaly isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018066 MONDO:0019852 True trisomy X inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018067 MONDO:0019934 True triploidy polyploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018069 MONDO:0016967 True distal trisomy 17q partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018072 MONDO:0016581 True persistent truncus arteriosus conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018075 MONDO:0020022 True neural tube defect central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018076 MONDO:0000314 True tuberculosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018077 MONDO:0000314 True tularemia primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018078 MONDO:0005089 True soft tissue sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018078 MONDO:0024637 True soft tissue sarcoma malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018079 MONDO:0005197 True thymic epithelial neoplasm thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018079 MONDO:0005626 True thymic epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018081 MONDO:0018087 True hemorrhagic fever-renal syndrome viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018082 MONDO:0020292 True aorto-ventricular tunnel congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018084 MONDO:0004994 True Uhl anomaly cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018086 MONDO:0018855 True ulerythema ophryogenesis keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018088 MONDO:0005046 True familial Mediterranean fever immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018088 MONDO:0017953 True familial Mediterranean fever hereditary periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018089 MONDO:0002070 True double outlet right ventricle ventricular septal defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018089 MONDO:0016581 True double outlet right ventricle conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018090 MONDO:0016581 True double outlet left ventricle conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018091 MONDO:0015159 True microcephaly-brachydactyly-kyphoscoliosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018091 MONDO:0019054 True microcephaly-brachydactyly-kyphoscoliosis syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018092 MONDO:0017255 True Vogt-Koyanagi-Harada disease panuveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018094 MONDO:0000426 True Waardenburg syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018094 MONDO:0002254 True Waardenburg syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018094 MONDO:0015161 True Waardenburg syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018095 MONDO:0015159 True Weaver-Williams syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0000429 True Weill-Marchesani syndrome autosomal genetic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0002254 True Weill-Marchesani syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0015161 True Weill-Marchesani syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018096 MONDO:0019695 True Weill-Marchesani syndrome acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018097 MONDO:0000413 True West syndrome infancy electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018100 MONDO:0004689 True familial primary hypomagnesemia inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018102 MONDO:0000942 True corneal dystrophy corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018103 MONDO:0004907 True Quinquaud's folliculitis decalvans alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018105 MONDO:0002254 True Wolfram syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018106 MONDO:0019236 True hereditary xanthinuria inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018116 MONDO:0017690 True galactosemia disorder of galactose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018117 MONDO:0002525 True disorder of phospholipids, sphingolipids and fatty acids biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018121 MONDO:0016387 True mitochondrial DNA maintenance syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018125 MONDO:0015653 True focal epilepsy-intellectual disability-cerebro-cerebellar malformation monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018126 MONDO:0020071 True progressive myoclonic epilepsy with dystonia infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018127 MONDO:0016914 True 16q24.1 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018128 MONDO:0019707 True phalangeal microgeodic syndrome primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018129 MONDO:0019255 True autosomal recessive cerebellar ataxia with late-onset spasticity sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018129 MONDO:0020044 True autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018130 MONDO:0013150 True brain dopamine-serotonin vesicular transport disease parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018130 MONDO:0019219 True brain dopamine-serotonin vesicular transport disease inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018131 MONDO:0016908 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018131 MONDO:0018681 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018133 MONDO:0020127 True attenuated Chédiak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018133 MONDO:0024237 True attenuated Chédiak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018134 MONDO:0019189 True disorder of melanin metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018135 MONDO:0018910 True oculocutaneous albinism type 1 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018136 MONDO:0018135 True minimal pigment oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018137 MONDO:0018135 True temperature-sensitive oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018141 MONDO:0009949 True pyruvate carboxylase deficiency, infantile form pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018142 MONDO:0009949 True pyruvate carboxylase deficiency, severe neonatal type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018143 MONDO:0009949 True pyruvate carboxylase deficiency, benign type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018149 MONDO:0017719 True GM1 gangliosidosis gangliosidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018150 MONDO:0019255 True Gaucher disease sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018151 MONDO:0016387 True coenzyme Q10 deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018151 MONDO:0020127 True coenzyme Q10 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018152 MONDO:0001280 True serpiginous choroiditis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018153 MONDO:0015531 True Erdheim-Chester disease non-Langerhans cell histiocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018156 MONDO:0016902 True 3q26q27 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018158 MONDO:0016387 True mitochondrial DNA depletion syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018160 MONDO:0008380 True hereditary retinoblastoma retinoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018160 MONDO:0015356 True hereditary retinoblastoma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018161 MONDO:0008380 True non-hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018163 MONDO:0019573 True autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018164 MONDO:0005979 True arterial thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018165 MONDO:0005979 True venous thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018166 MONDO:0006858 True oral submucous fibrosis mouth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018167 MONDO:0019033 True primary essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018168 MONDO:0019033 True primary non-essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0006290 True malignant germ cell tumor of ovary malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0011366 True malignant germ cell tumor of ovary ovarian germ cell tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0018202 True malignant germ cell tumor of ovary gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018171 MONDO:0018365 True malignant germ cell tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018172 MONDO:0018365 True malignant sex cord stromal tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018172 MONDO:0021657 True malignant sex cord stromal tumor of ovary ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018177 MONDO:0016680 True glioblastoma high grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018180 MONDO:0017592 True staphylococcal scarlet fever staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018181 MONDO:0000315 True staphylococcal scalded skin syndrome commensal bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018181 MONDO:0017592 True staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018182 MONDO:0017592 True bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018183 MONDO:0017592 True staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018189 MONDO:0019216 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018189 MONDO:0020044 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018193 MONDO:0010108 True testicular teratoma testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018197 MONDO:0015962 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018197 MONDO:0100512 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018198 MONDO:0020072 True acute encephalopathy with biphasic seizures and late reduced diffusion childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018199 MONDO:0020072 True new-onset refractory status epilepticus childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018199 MONDO:0020073 True new-onset refractory status epilepticus adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018201 MONDO:0005040 True extragonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018203 MONDO:0019303 True LMNA-related cardiocutaneous progeria syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018204 MONDO:0015159 True 20q11.2 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018204 MONDO:0016970 True 20q11.2 microduplication syndrome partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018205 MONDO:0022756 True distal monosomy 1q chromosome 1q deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018206 MONDO:0016112 True childhood-onset autosomal recessive myopathy with external ophthalmoplegia hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018207 MONDO:0015159 True 2p13.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018207 MONDO:0016884 True 2p13.2 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018208 MONDO:0018975 True neurofibromatosis type 1 due to NF1 mutation or intragenic deletion neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018209 MONDO:0008752 True Alexander disease type I Alexander disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018210 MONDO:0008752 True Alexander disease type II Alexander disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018213 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018213 MONDO:0018117 True hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018214 MONDO:0015653 True generalized epilepsy with febrile seizures plus monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018216 MONDO:0012496 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018216 MONDO:0016915 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018217 MONDO:0012496 True Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018218 MONDO:0024237 True autosomal recessive cerebral atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018221 MONDO:0015193 True immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0000430 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0000621 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood immune system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0003659 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood pediatric lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0006188 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018223 MONDO:0017343 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018224 MONDO:0006188 True hydroa vacciniforme-like lymphoma EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018224 MONDO:0017343 True hydroa vacciniforme-like lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018225 MONDO:0018905 True ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018226 MONDO:0020065 True infantile epileptic-dyskinetic encephalopathy combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018227 MONDO:0015491 True hypocomplementemic urticarial vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018228 MONDO:0018234 True bipartite talus dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018229 MONDO:0019810 True Stevens-Johnson syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018233 MONDO:0019690 True otopalatodigital syndrome spectrum disorder filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018234 MONDO:0005497 True dysostosis bone development disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018237 MONDO:0018234 True acrofacial dysostosis dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018244 MONDO:0019182 True obesity due to SIM1 deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0015327 True CADDS developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0019046 True CADDS leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018247 MONDO:0019053 True CADDS peroxisomal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018248 MONDO:0015159 True intellectual disability-seizures-macrocephaly-obesity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018250 MONDO:0017666 True diffuse palmoplantar keratoderma with painful fissures diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018252 MONDO:0017672 True focal palmoplantar keratoderma with joint keratoses focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018253 MONDO:0015159 True intellectual disability-facial dysmorphism-hand anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018256 MONDO:0018874 True acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018257 MONDO:0020508 True familial syringomyelia primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018263 MONDO:0016677 True fetal carbamazepine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018264 MONDO:0018910 True oculocutaneous albinism type 6 oculocutaneous albinism SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018266 MONDO:0020065 True ataxia - telangiectasia variant combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018268 MONDO:0020117 True Medich giant platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018269 MONDO:0020117 True white platelet syndrome alpha granule disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018270 MONDO:0012817 True extraskeletal Ewing sarcoma Ewing sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018270 MONDO:0018078 True extraskeletal Ewing sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018270 MONDO:0021039 True extraskeletal Ewing sarcoma extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018271 MONDO:0005462 True peripheral primitive neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018271 MONDO:0021038 True peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018271 MONDO:0021089 True peripheral primitive neuroectodermal tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015159 True XYLT1-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015286 True XYLT1-congenital disorder of glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018273 MONDO:0015327 True XYLT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0006025 True GM3 synthase deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0017748 True GM3 synthase deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018274 MONDO:0018117 True GM3 synthase deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018276 MONDO:0019950 True muscular dystrophy-dystroglycanopathy congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018278 MONDO:0015286 True congenital muscular dystrophy with intellectual disability congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018278 MONDO:0018276 True congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018280 MONDO:0018276 True muscle-eye-brain disease with bilateral multicystic leucodystrophy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018280 MONDO:0018869 True muscle-eye-brain disease with bilateral multicystic leucodystrophy cobblestone lissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018281 MONDO:0019950 True congenital muscular dystrophy with hyperlaxity congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018282 MONDO:0016139 True qualitative or quantitative defects of alpha-dystroglycan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018298 MONDO:0019707 True multicentric osteolysis-nodulosis-arthropathy spectrum primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018301 MONDO:0006030 True interstitial cystitis chronic cystitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018304 MONDO:0019751 True Schnitzler syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018305 MONDO:0005910 True chronic granulomatous disease phagocyte bactericidal dysfunction SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018306 MONDO:0017305 True Griscelli syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0015547 True neurodegeneration with brain iron accumulation hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0024237 True neurodegeneration with brain iron accumulation inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018308 MONDO:0024477 True liver mesenchymal hamartoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018310 MONDO:0002637 True Langerhans cell histiocytosis histiocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018310 MONDO:0020082 True Langerhans cell histiocytosis dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018311 MONDO:0019289 True acromelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018312 MONDO:0000308 True histoplasmosis primary systemic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018314 MONDO:0015653 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018314 MONDO:0020071 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018316 MONDO:0024237 True fatal post-viral neurodegenerative disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018319 MONDO:0020127 True familial episodic pain syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018322 MONDO:0010327 True HSD10 disease, infantile type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018323 MONDO:0010327 True HSD10 disease, neonatal type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018324 MONDO:0009688 True adult-onset myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018325 MONDO:0009688 True juvenile myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018326 MONDO:0009688 True transient neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018326 MONDO:0018356 True transient neonatal myasthenia gravis secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018327 MONDO:0002604 True glomus tumor pericytic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018330 MONDO:0006087 True mucinous adenocarcinoma of the appendix appendix adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018332 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, severe neonatal type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018333 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, mild type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018338 MONDO:0015977 True activated PI3K-delta syndrome agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018341 MONDO:0015159 True 3q27.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018342 MONDO:0015369 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018342 MONDO:0015461 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0000995 True periodic paralysis with later-onset distal motor neuropathy familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0016387 True periodic paralysis with later-onset distal motor neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018343 MONDO:0019056 True periodic paralysis with later-onset distal motor neuropathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018346 MONDO:0019052 True ferro-cerebro-cutaneous syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018346 MONDO:0024237 True ferro-cerebro-cutaneous syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018349 MONDO:0017740 True MAN1B1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018352 MONDO:0005096 True squamous cell carcinoma of penis squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018352 MONDO:0006360 True squamous cell carcinoma of penis penile carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018354 MONDO:0015770 True Prader-Willi-like syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018355 MONDO:0018354 True SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018357 MONDO:0018356 True neonatal antiphospholipid syndrome secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018358 MONDO:0018356 True neonatal autoimmune hemolytic anemia secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018359 MONDO:0018356 True neonatal dermatomyositis secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018360 MONDO:0018356 True neonatal lupus erythematosus secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018361 MONDO:0018356 True neonatal scleroderma secondary neonatal autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018363 MONDO:0019287 True focal facial dermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018364 MONDO:0002229 True malignant epithelial tumor of ovary ovarian epithelial tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018364 MONDO:0004993 True malignant epithelial tumor of ovary carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018364 MONDO:0008170 True malignant epithelial tumor of ovary ovarian cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018365 MONDO:0008170 True malignant non-epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018368 MONDO:0006386 True primary peritoneal serous/papillary carcinoma primary peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018369 MONDO:0003821 True immature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018370 MONDO:0016108 True KLHL9-related early-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018371 MONDO:0018949 True nebulin-related early-onset distal myopathy distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018373 MONDO:0005380 True avascular necrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018374 MONDO:0018373 True secondary avascular necrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018375 MONDO:0018374 True traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018376 MONDO:0018374 True secondary non-traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018378 MONDO:0018374 True osteonecrosis of the jaw secondary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018379 MONDO:0018373 True primary avascular necrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018380 MONDO:0018379 True idiopathic avascular necrosis primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018381 MONDO:0005380 True osteochondrosis osteonecrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018382 MONDO:0005380 True epiphysiolysis of the hip osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018416 MONDO:0015150 True autosomal recessive spastic paraplegia type 59 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018417 MONDO:0015150 True autosomal recessive spastic paraplegia type 60 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018418 MONDO:0015150 True autosomal recessive spastic paraplegia type 66 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018419 MONDO:0015150 True autosomal recessive spastic paraplegia type 67 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018421 MONDO:0015150 True autosomal recessive spastic paraplegia type 69 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018422 MONDO:0015150 True autosomal recessive spastic paraplegia type 70 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018423 MONDO:0015149 True autosomal recessive spastic paraplegia type 71 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018424 MONDO:0004069 True inherited lipoic acid biosynthesis defect inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018426 MONDO:0016362 True AXIN2-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018428 MONDO:0015159 True 9q31.1q31.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018428 MONDO:0016908 True 9q31.1q31.3 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018429 MONDO:0015159 True 14q24.1q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018429 MONDO:0016912 True 14q24.1q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018430 MONDO:0020022 True partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018431 MONDO:0015364 True cold-induced sweating syndrome - hyperthermia spectrum hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018432 MONDO:0021154 True lichen myxedematosus dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018433 MONDO:0018874 True acute myeloid leukemia with t(6;9)(p23;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018434 MONDO:0018874 True acute myeloid leukemia with t(9;11)(p22;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018435 MONDO:0018874 True acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018436 MONDO:0018874 True megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018437 MONDO:0018874 True acute myeloid leukemia with NPM1 somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018440 MONDO:0015827 True autosomal recessive distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018442 MONDO:0016677 True acitretin/etretinate embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018443 MONDO:0015159 True FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018445 MONDO:0019716 True global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018446 MONDO:0015244 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018446 MONDO:0015653 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018447 MONDO:0000631 True chondromyxoid fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018447 MONDO:0024470 True chondromyxoid fibroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018449 MONDO:0005086 True acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018450 MONDO:0024257 True spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018456 MONDO:0011429 True polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0001566 True familial hypocalciuric hypercalcemia hypercalcemia disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0017014 True familial hypocalciuric hypercalcemia interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0019052 True familial hypocalciuric hypercalcemia inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018459 MONDO:0010613 True isolated glycerol kinase deficiency inborn glycerol kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018461 MONDO:0007113 True Angelman syndrome due to a point mutation Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018462 MONDO:0007113 True Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018463 MONDO:0010395 True mild phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018464 MONDO:0010395 True severe phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018465 MONDO:0000569 True insulin autoimmune syndrome autoimmune disorder of endocrine system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018465 MONDO:0005803 True insulin autoimmune syndrome hyperinsulinemic hypoglycemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018468 MONDO:0018438 True proton-pump inhibitor-responsive esophageal eosinophilia eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018473 MONDO:0001336 True hyperlipoproteinemia type 3 familial hyperlipidemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0015159 True 13q12.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0016911 True 13q12.3 microdeletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018474 MONDO:0019268 True 13q12.3 microdeletion syndrome epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018475 MONDO:0015547 True PRKAR1B-related neurodegenerative dementia with intermediate filaments hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018475 MONDO:0024237 True PRKAR1B-related neurodegenerative dementia with intermediate filaments inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018476 MONDO:0020065 True dystonia-aphonia syndrome combined dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018477 MONDO:0005560 True bilirubin encephalopathy brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018477 MONDO:0017755 True bilirubin encephalopathy inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0005523 True congenital adrenal hyperplasia steroid inherited metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0015129 True congenital adrenal hyperplasia chronic primary adrenal insufficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0015514 True congenital adrenal hyperplasia hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018479 MONDO:0015898 True congenital adrenal hyperplasia adrenogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018480 MONDO:0019086 True carcinoma of esophagus, salivary gland type carcinoma of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018481 MONDO:0005617 True undifferentiated carcinoma of esophagus undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018485 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018487 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CXCR2 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018490 MONDO:0015159 True cono-spondylar dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018492 MONDO:0003008 True hereditary clear cell renal cell carcinoma hereditary renal cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018492 MONDO:0005005 True hereditary clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018493 MONDO:0003847 True malignant hyperthermia of anesthesia hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018493 MONDO:0019119 True malignant hyperthermia of anesthesia muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018494 MONDO:0015159 True microcephaly-short stature-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018495 MONDO:0019118 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018495 MONDO:0019236 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018498 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018499 MONDO:0018089 True double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018504 MONDO:0004950 True undifferentiated carcinoma of stomach gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018504 MONDO:0005617 True undifferentiated carcinoma of stomach undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018509 MONDO:0005096 True squamous cell carcinoma of the small intestine squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018509 MONDO:0005522 True squamous cell carcinoma of the small intestine small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018510 MONDO:0002883 True small intestine neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018510 MONDO:0004251 True small intestine neuroendocrine neoplasm small intestine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018513 MONDO:0002032 True squamous cell carcinoma of colon colon carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018513 MONDO:0006165 True squamous cell carcinoma of colon colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018515 MONDO:0006165 True squamous cell carcinoma of rectum colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018515 MONDO:0044937 True squamous cell carcinoma of rectum rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018521 MONDO:0005096 True squamous cell carcinoma of pancreas squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018523 MONDO:0002809 True pancreatic mucinous cystadenoma pancreatic cystadenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018525 MONDO:0005192 True solid pseudopapillary carcinoma of pancreas exocrine pancreatic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018531 MONDO:0002691 True carcinoma of liver and intrahepatic biliary tract liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018531 MONDO:0006181 True carcinoma of liver and intrahepatic biliary tract digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018533 MONDO:0018531 True undifferentiated carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018534 MONDO:0018531 True squamous cell carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018535 MONDO:0018531 True biliary cystadenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018536 MONDO:0018918 True adenocarcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018537 MONDO:0018918 True squamous cell carcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018540 MONDO:0019751 True PFAPA syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018541 MONDO:0015900 True familial hypoaldosteronism hypoaldosteronism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018542 MONDO:0015134 True severe congenital neutropenia constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018543 MONDO:0000426 True autosomal dominant hypocalcemia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018543 MONDO:0016390 True autosomal dominant hypocalcemia familial hypoparathyroidism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018544 MONDO:0000425 True adrenoleukodystrophy X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018544 MONDO:0015547 True adrenoleukodystrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018544 MONDO:0019046 True adrenoleukodystrophy leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018551 MONDO:0018565 True patent urachus congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018552 MONDO:0018565 True urachal sinus congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018553 MONDO:0018565 True urachal diverticulum congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018555 MONDO:0002146 True hypogonadotropic hypogonadism hypogonadism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018556 MONDO:0018215 True Lambert-Eaton myasthenic syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018559 MONDO:0019356 True fetal lower urinary tract obstruction urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018564 MONDO:0016885 True 3p25.3 microdeletion syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018566 MONDO:0018230 True short stature-advanced bone age-early-onset osteoarthritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018567 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018570 MONDO:0015327 True hypophosphatasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018571 MONDO:0016904 True contractures-developmental delay-Pierre Robin syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018572 MONDO:0015159 True severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0016387 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0019046 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018576 MONDO:0020127 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018581 MONDO:0008491 True progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018586 MONDO:0019268 True zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018587 MONDO:0015923 True non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018588 MONDO:0019065 True ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018589 MONDO:0019065 True AApoAIV amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018590 MONDO:0019065 True ABeta2M amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018591 MONDO:0018634 True ITM2B amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018591 MONDO:0024237 True ITM2B amyloidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018592 MONDO:0018593 True cutaneous polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018593 MONDO:0019170 True primary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018594 MONDO:0019170 True secondary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018595 MONDO:0018593 True single-organ polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018596 MONDO:0018593 True systemic polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018604 MONDO:0018630 True familial colorectal cancer type X hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018605 MONDO:0019214 True disorders of pentose/polyol metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018610 MONDO:0020377 True early-onset posterior subcapsular cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018612 MONDO:0005420 True congenital hypothyroidism hypothyroidism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018613 MONDO:0019065 True AH amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0020070 True undetermined early-onset epileptic encephalopathy neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0020071 True undetermined early-onset epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018615 MONDO:0015530 True hemicrania continua trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018621 MONDO:0017594 True lymphoplasmacytic lymphoma without IgM production indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018625 MONDO:0008491 True classic stiff person syndrome stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018626 MONDO:0000827 True paratyphoid fever salmonellosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018628 MONDO:0017341 True HIV-associated cancer virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018629 MONDO:0008491 True focal stiff limb syndrome stiff-person syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018630 MONDO:0015356 True hereditary nonpolyposis colon cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018632 MONDO:0015159 True 11q22.2q22.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018632 MONDO:0016910 True 11q22.2q22.3 microdeletion syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018633 MONDO:0015159 True 20q11.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018633 MONDO:0016918 True 20q11.2 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018635 MONDO:0005380 True idiopathic phalangeal acro-osteolysis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018638 MONDO:0006510 True pseudohypoaldosteronism renal tubular transport disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018639 MONDO:0019054 True caudal regression-sirenomelia spectrum congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018640 MONDO:0018882 True secondary vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018642 MONDO:0018814 True NIK deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018645 MONDO:0017287 True IgG4-related sclerosing cholangitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018645 MONDO:0018646 True IgG4-related sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018646 MONDO:0004789 True sclerosing cholangitis cholangitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018647 MONDO:0018646 True secondary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018653 MONDO:0016362 True Polymerase proofreading-related adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018654 MONDO:0016105 True idiopathic dropped head syndrome acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018656 MONDO:0100309 True tremor-ataxia-central hypomyelination syndrome hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018658 MONDO:0015159 True 19p13.3 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018658 MONDO:0018659 True 19p13.3 microduplication syndrome partial duplication of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018659 MONDO:0016937 True partial duplication of the short arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018662 MONDO:0015262 True autosomal recessive brachyolmia brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018663 MONDO:0016763 True regressive spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018664 MONDO:0019512 True ectopia cordis congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018666 MONDO:0005564 True hepatoblastoma embryonal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018667 MONDO:0002037 True pleural empyema pleural disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018671 MONDO:0017287 True IgG4-related kidney disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018672 MONDO:0017287 True IgG4-related aortitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018673 MONDO:0017287 True IgG4-related pachymeningitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018674 MONDO:0017287 True IgG4-related submandibular gland disease IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018675 MONDO:0017287 True IgG4-related ophthalmic disorder IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018676 MONDO:0017287 True eosinophilic angiocentric fibrosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018677 MONDO:0019512 True visceral heterotaxy congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018678 MONDO:0005570 True polyclonal hyperviscosity syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018679 MONDO:0017287 True primary cutaneous plasmacytosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018680 MONDO:0017287 True cutaneous pseudolymphoma IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018681 MONDO:0015159 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018681 MONDO:0018234 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018683 MONDO:0019269 True acquired ichthyosis ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018688 MONDO:0019337 True anti-p200 pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018689 MONDO:0004959 True plasma cell leukemia plasma cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018690 MONDO:0002254 True Holmes-Adie syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018692 MONDO:0018926 True variably protease-sensitive prionopathy human prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018695 MONDO:0005812 True avian influenza influenza SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018697 MONDO:0015159 True 1p35.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018697 MONDO:0016883 True 1p35.2 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018705 MONDO:0024237 True infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018710 MONDO:0015159 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018710 MONDO:0019716 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018711 MONDO:0015159 True intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018712 MONDO:0021121 True composite hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018713 MONDO:0021121 True retiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018714 MONDO:0021121 True primary intralymphatic angioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018715 MONDO:0006500 True congenital hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018717 MONDO:0002013 True mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018724 MONDO:0015159 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018724 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018725 MONDO:0015159 True corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018733 MONDO:0013578 True intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018735 MONDO:0002013 True multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018746 MONDO:0019337 True mucous membrane pemphigoid autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018747 MONDO:0019337 True acquired epidermolysis bullosa autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018748 MONDO:0019337 True linear IgA Dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018749 MONDO:0017145 True hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018756 MONDO:0007179 True euthyroid Graves orbitopathy autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018759 MONDO:0016106 True childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018760 MONDO:0015159 True DeSanto-Shinawi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018761 MONDO:0018078 True SMARCA4-deficient sarcoma of thorax soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018762 MONDO:0019824 True non-acquired combined pituitary hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018763 MONDO:0020022 True tubulinopathy-associated dysgyria central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018768 MONDO:0016168 True familial cold autoinflammatory syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018769 MONDO:0005707 True isosporiasis coccidiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018770 MONDO:0005308 True Jeune syndrome ciliopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018770 MONDO:0015461 True Jeune syndrome short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018770 MONDO:0015962 True Jeune syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018772 MONDO:0005308 True Joubert syndrome ciliopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018773 MONDO:0015362 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018773 MONDO:0018943 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018774 MONDO:0019270 True erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018776 MONDO:0015626 True demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018777 MONDO:0019280 True autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018778 MONDO:0015626 True intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018781 MONDO:0017666 True KID syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018781 MONDO:0019287 True KID syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018794 MONDO:0021181 True cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018800 MONDO:0018555 True Kallmann syndrome hypogonadotropic hypogonadism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018801 MONDO:0003150 True congenital bilateral absence of vas deferens male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018801 MONDO:0003847 True congenital bilateral absence of vas deferens hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018804 MONDO:0015762 True MYO5B-related progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018805 MONDO:0002887 True bile duct cyst bile duct disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018810 MONDO:0043009 True lethal hydranencephaly-diaphragmatic hernia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018813 MONDO:0017595 True high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018814 MONDO:0015131 True non-SCID combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018815 MONDO:0019060 True aneurysmal bone cyst bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018816 MONDO:0018646 True isolated neonatal sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018818 MONDO:0016218 True facial diplegia with paresthesias Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018820 MONDO:0024237 True recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018822 MONDO:0015159 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018822 MONDO:0020022 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018823 MONDO:0015159 True X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018824 MONDO:0002922 True pyoderma gangrenosum pyoderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018824 MONDO:0019751 True pyoderma gangrenosum autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0018825 MONDO:0015159 True PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018826 MONDO:0006702 True Lewis-Sumner syndrome chronic inflammatory demyelinating polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018828 MONDO:0009626 True pseudo-TORCH syndrome 2 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018829 MONDO:0010011 True familial schizencephaly schizencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018837 MONDO:0018640 True postinfectious vasculitis secondary vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018838 MONDO:0002320 True lissencephaly spectrum disorders congenital nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018839 MONDO:0010011 True acquired schizencephaly schizencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018841 MONDO:0005523 True congenital bile acid synthesis defect steroid inherited metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018842 MONDO:0015157 True primary effusion lymphoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018842 MONDO:0017343 True primary effusion lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018842 MONDO:0018905 True primary effusion lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018843 MONDO:0002714 True embryonal carcinoma of the central nervous system central nervous system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018843 MONDO:0005440 True embryonal carcinoma of the central nervous system embryonal carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018843 MONDO:0020574 True embryonal carcinoma of the central nervous system central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018844 MONDO:0018565 True urachal cyst congenital urachal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018845 MONDO:0020122 True focal myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018846 MONDO:0020040 True penile agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018848 MONDO:0017287 True IgG4-related retroperitoneal fibrosis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018849 MONDO:0006999 True dentinogenesis imperfecta tooth disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018850 MONDO:0003413 True proliferating trichilemmal cyst hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018852 MONDO:0001703 True achromatopsia color vision disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018855 MONDO:0019268 True keratosis pilaris atrophicans epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018856 MONDO:0015301 True lichen amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018857 MONDO:0020568 True creeping myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018858 MONDO:0004907 True Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018861 MONDO:0016387 True Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018865 MONDO:0017672 True striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0002254 True Aicardi-Goutieres syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0003778 True Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0019046 True Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0015547 True metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0019046 True metachromatic leukodystrophy leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0019255 True metachromatic leukodystrophy sphingolipidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018868 MONDO:0020127 True metachromatic leukodystrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018869 MONDO:0018838 True cobblestone lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018870 MONDO:0005385 True arterial calcification of infancy vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018871 MONDO:0015667 True acute myelomonocytic leukemia M4 acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018872 MONDO:0015667 True acute megakaryoblastic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018873 MONDO:0015923 True anterior cutaneous nerve entrapment syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018874 MONDO:0004643 True acute myeloid leukemia myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018874 MONDO:0010643 True acute myeloid leukemia acute leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018875 MONDO:0000426 True Li-Fraumeni syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018875 MONDO:0015356 True Li-Fraumeni syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018876 MONDO:0017595 True mantle cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018878 MONDO:0002254 True branchiootic syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018878 MONDO:0015161 True branchiootic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018879 MONDO:0004907 True lichen planopilaris alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018881 MONDO:0015756 True myelodysplastic syndrome myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018881 MONDO:0021058 True myelodysplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018882 MONDO:0005385 True vasculitis vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018883 MONDO:0020087 True Berardinelli-Seip congenital lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018884 MONDO:0019296 True Roch-Leri mesosomatous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018889 MONDO:0016195 True hyaline body myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018889 MONDO:0019952 True hyaline body myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018890 MONDO:0019810 True Lyell syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018892 MONDO:0015405 True Wyburn-Mason syndrome cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018892 MONDO:0019293 True Wyburn-Mason syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0019293 True Cobb syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018894 MONDO:0020127 True distal hereditary motor neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018894 MONDO:0024257 True distal hereditary motor neuropathy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018895 MONDO:0016625 True Plummer-Vinson syndrome acquired deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018896 MONDO:0002305 True thrombotic thrombocytopenic purpura thrombophilia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018897 MONDO:0015816 True primary cutaneous CD30+ T-cell lymphoproliferative disease indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018898 MONDO:0002898 True primary cutaneous lymphoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018898 MONDO:0017207 True primary cutaneous lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018899 MONDO:0024237 True posterior cortical atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0000591 True left ventricular noncompaction intrinsic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018902 MONDO:0000385 True hepatocellular adenoma benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018902 MONDO:0000627 True hepatocellular adenoma benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018902 MONDO:0004972 True hepatocellular adenoma adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018902 MONDO:0024477 True hepatocellular adenoma liver and intrahepatic bile duct neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018903 MONDO:0005707 True sarcocystosis coccidiosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018905 MONDO:0004949 True diffuse large B-cell lymphoma neoplasm of mature B-cells UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018905 MONDO:0017595 True diffuse large B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018906 MONDO:0004949 True follicular lymphoma neoplasm of mature B-cells UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018906 MONDO:0017594 True follicular lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0000628 True craniopharyngioma central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0002532 True craniopharyngioma squamous cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0002720 True craniopharyngioma sella turcica neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0036976 True craniopharyngioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018908 MONDO:0005062 True non-Hodgkin lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018910 MONDO:0018134 True oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018910 MONDO:0019290 True oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018911 MONDO:0015967 True maturity-onset diabetes of the young monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018914 MONDO:0004907 True hypotrichosis simplex alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018919 MONDO:0002254 True McCune-Albright syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018919 MONDO:0018230 True McCune-Albright syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018920 MONDO:0016338 True peripartum cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018921 MONDO:0002254 True Meckel syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018921 MONDO:0005308 True Meckel syndrome ciliopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018921 MONDO:0043009 True Meckel syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018922 MONDO:0016450 True cold agglutinin disease autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018923 MONDO:0022760 True 22q11.2 deletion syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018924 MONDO:0016073 True microphthalmia, Lenz type syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018927 MONDO:0015530 True SUNCT syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018929 MONDO:0018381 True medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018931 MONDO:0031422 True mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018931 MONDO:0800088 True mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016330 True cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016338 True cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018935 MONDO:0004948 True hairy cell leukemia B-cell chronic lymphocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018938 MONDO:0019249 True mucopolysaccharidosis type 4 mucopolysaccharidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018939 MONDO:0019950 True muscle-eye-brain disease congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018940 MONDO:0020124 True congenital myasthenic syndrome neuromuscular junction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018941 MONDO:0020568 True furuncular myiasis cutaneous myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018942 MONDO:0016105 True macrophagic myofasciitis acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018944 MONDO:0002872 True gestational trophoblastic neoplasm trophoblastic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018944 MONDO:0021148 True gestational trophoblastic neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018945 MONDO:0016987 True McLeod neuroacanthocytosis syndrome neuroacanthocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018946 MONDO:0020022 True rhombencephalosynapsis central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018947 MONDO:0019952 True centronuclear myopathy congenital myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018948 MONDO:0016197 True multiminicore myopathy qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018949 MONDO:0020121 True distal myopathy muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018950 MONDO:0019215 True 3-methylcrotonyl-CoA carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018951 MONDO:0016108 True distal myopathy with vocal cord weakness autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018953 MONDO:0018075 True parietal foramina neural tube defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018953 MONDO:0018230 True parietal foramina skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018954 MONDO:0000426 True Loeys-Dietz syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018954 MONDO:0002254 True Loeys-Dietz syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018954 MONDO:0017310 True Loeys-Dietz syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018955 MONDO:0021098 True recurrent respiratory papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018957 MONDO:0015923 True pudendal neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018959 MONDO:0016120 True potassium-aggravated myotonia myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018961 MONDO:0005105 True familial melanoma melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018963 MONDO:0019050 True hereditary methemoglobinemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018964 MONDO:0016624 True homocystinuria without methylmalonic aciduria inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018964 MONDO:0019220 True homocystinuria without methylmalonic aciduria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018965 MONDO:0002254 True Alport syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018967 MONDO:0010615 True short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia isolated growth hormone deficiency type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018968 MONDO:0018075 True iniencephaly neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018974 MONDO:0019337 True paraneoplastic pemphigus autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018975 MONDO:0019755 True neurofibromatosis type 1 developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018975 MONDO:0021060 True neurofibromatosis type 1 RASopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018975 MONDO:0021061 True neurofibromatosis type 1 neurofibromatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018977 MONDO:0015923 True polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018978 MONDO:0017287 True IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018979 MONDO:0015923 True multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018980 MONDO:0018237 True acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018981 MONDO:0020070 True benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018983 MONDO:0001584 True Tolosa-Hunt syndrome ocular motility disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018992 MONDO:0017287 True IgG4-related thyroid disease IgG4-related disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018993 MONDO:0015626 True Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018994 MONDO:0015626 True Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018995 MONDO:0015626 True Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018996 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018996 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018997 MONDO:0002254 True Noonan syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018997 MONDO:0020297 True Noonan syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018998 MONDO:0019118 True Leber congenital amaurosis inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018999 MONDO:0017773 True LCAT deficiency hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019002 MONDO:0016729 True Lhermitte-Duclos disease mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019002 MONDO:0020022 True Lhermitte-Duclos disease central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019003 MONDO:0015075 True multiple endocrine neoplasia type 2 thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019003 MONDO:0017169 True multiple endocrine neoplasia type 2 multiple endocrine neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019004 MONDO:0002367 True kidney Wilms tumor kidney cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019004 MONDO:0006058 True kidney Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019005 MONDO:0006025 True nephronophthisis autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019008 MONDO:0017290 True benign recurrent intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019008 MONDO:0017755 True benign recurrent intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019009 MONDO:0017094 True isolated focal cortical dysplasia cerebral cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0017182 True congenital isolated hyperinsulinism familial hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019011 MONDO:0015626 True Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019016 MONDO:0009637 True maternally-inherited progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019016 MONDO:0016387 True maternally-inherited progressive external ophthalmoplegia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019018 MONDO:0004994 True Tako-tsubo cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019019 MONDO:0005516 True osteogenesis imperfecta osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019023 MONDO:0007950 True cutaneous mastocytosis mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019024 MONDO:0005089 True mast cell sarcoma sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019024 MONDO:0007950 True mast cell sarcoma mastocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019025 MONDO:0003079 True extracutaneous mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019025 MONDO:0016586 True extracutaneous mastocytoma systemic mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019026 MONDO:0017198 True autosomal recessive osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019031 MONDO:0019403 True thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019033 MONDO:0021154 True primary cutis verticis gyrata dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019035 MONDO:0002116 True pancreatoblastoma malignant exocrine pancreas neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019037 MONDO:0005395 True progressive supranuclear palsy movement disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019037 MONDO:0020257 True progressive supranuclear palsy supranuclear oculomotor palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019042 MONDO:0019755 True multiple congenital anomalies/dysmorphic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019052 MONDO:0003847 True inborn errors of metabolism hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019052 MONDO:0005066 True inborn errors of metabolism metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019053 MONDO:0019052 True peroxisomal disease inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019054 MONDO:0019755 True congenital limb malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019056 MONDO:0005071 True neuromuscular disease nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019064 MONDO:0003757 True hereditary spastic paraplegia paraplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019064 MONDO:0024237 True hereditary spastic paraplegia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019067 MONDO:0018170 True idiopathic steroid-sensitive nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019068 MONDO:0019722 True congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019071 MONDO:0019287 True pure hair and nail ectodermal dysplasia ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019072 MONDO:0001751 True intrahepatic cholestasis cholestasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019074 MONDO:0011119 True bilateral acute depigmentation of the iris iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019077 MONDO:0002093 True warty dyskeratoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0003847 True Ritscher-Schinzel syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0015159 True Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0020022 True Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019079 MONDO:0024257 True proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019080 MONDO:0004907 True alopecia totalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019082 MONDO:0019337 True bullous pemphigoid autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019086 MONDO:0006181 True carcinoma of esophagus digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019086 MONDO:0007576 True carcinoma of esophagus esophageal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019091 MONDO:0005087 True bronchopulmonary dysplasia respiratory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019094 MONDO:0016511 True congenital Epstein-Barr virus infection infectious embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019095 MONDO:0000314 True plague primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019100 MONDO:0005071 True neuromyelitis optica nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019100 MONDO:0044685 True neuromyelitis optica autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019107 MONDO:0020102 True Rh deficiency syndrome hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019109 MONDO:0015923 True CANOMAD syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019112 MONDO:0018215 True cancer-associated retinopathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019113 MONDO:0016058 True benign paroxysmal torticollis of infancy paroxysmal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019115 MONDO:0019182 True obesity due to melanocortin 4 receptor deficiency inherited obesity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019119 MONDO:0019056 True muscular channelopathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019120 MONDO:0019278 True pili bifurcati hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019121 MONDO:0002312 True pneumocystosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019122 MONDO:0015927 True idiopathic acute eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019124 MONDO:0015492 True microscopic polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019125 MONDO:0002342 True relapsing polychondritis chondromalacia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019127 MONDO:0020122 True polymyositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019131 MONDO:0015929 True ossification anomalies-psychomotor developmental delay syndrome thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019132 MONDO:0020022 True spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019133 MONDO:0015159 True visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019134 MONDO:0002682 True central neurocytoma cerebral ventricle cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019134 MONDO:0016729 True central neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019136 MONDO:0002312 True Zygomycosis opportunistic mycosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019137 MONDO:0024361 True non-24-hour sleep-wake syndrome circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019141 MONDO:0006602 True porokeratosis of Mibelli porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019142 MONDO:0015951 True inherited porphyria hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019142 MONDO:0017754 True inherited porphyria inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019143 MONDO:0004664 True angiostrongyliasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019144 MONDO:0002304 True hereditary thrombophilia due to congenital protein S deficiency protein S deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019146 MONDO:0015979 True inherited susceptibility to mycobacterial diseases hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019147 MONDO:0002875 True myiasis parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019148 MONDO:0800449 True Wolman disease lysosomal acid lipase deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019149 MONDO:0800449 True cholesteryl ester storage disease lysosomal acid lipase deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019151 MONDO:0019118 True oligocone trichromacy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019152 MONDO:0019118 True Oguchi disease inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019153 MONDO:0015159 True brain malformation-congenital heart disease-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019154 MONDO:0020040 True androgen insensitivity syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019155 MONDO:0005151 True Leydig cell hypoplasia endocrine system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019157 MONDO:0015194 True myelodysplastic syndrome with ring sideroblasts sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019157 MONDO:0018881 True myelodysplastic syndrome with ring sideroblasts myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019158 MONDO:0016345 True tropical endomyocardial fibrosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019159 MONDO:0016345 True Loeffler endocarditis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019161 MONDO:0015962 True pseudohypoaldosteronism type 1 inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019164 MONDO:0016905 True 6q terminal deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019167 MONDO:0006794 True immunoglobulin A vasculitis hypersensitivity vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019167 MONDO:0015491 True immunoglobulin A vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0016789 True pyruvate dehydrogenase deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0019214 True pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0020127 True pyruvate dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019172 MONDO:0002289 True aniridia iris disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019173 MONDO:0005108 True rabies viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019173 MONDO:0020010 True rabies infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019177 MONDO:0019046 True odontoleukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019178 MONDO:0015161 True auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019179 MONDO:0016908 True monosomy 9q22.3 partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0000426 True hereditary hemorrhagic telangiectasia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0016231 True hereditary hemorrhagic telangiectasia capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0019755 True hereditary hemorrhagic telangiectasia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019181 MONDO:0000509 True non-syndromic X-linked intellectual disability non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019186 MONDO:0000314 True Q fever primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019187 MONDO:0003847 True Axenfeld-Rieger syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019187 MONDO:0015161 True Axenfeld-Rieger syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0015159 True Rubinstein-Taybi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0018234 True Rubinstein-Taybi syndrome dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0019054 True Rubinstein-Taybi syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019189 MONDO:0019052 True inborn disorder of amino acid and other organic acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019190 MONDO:0017380 True juvenile polyposis of infancy juvenile polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019192 MONDO:0020088 True AKT2-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019193 MONDO:0020089 True acquired generalized lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019193 MONDO:0027766 True acquired generalized lipodystrophy generalized lipodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019195 MONDO:0016112 True hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019197 MONDO:0019253 True folinic acid-responsive seizures metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019198 MONDO:0017255 True sympathetic ophthalmia panuveitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019198 MONDO:0017634 True sympathetic ophthalmia non-infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019200 MONDO:0019118 True retinitis pigmentosa inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019202 MONDO:0018078 True myxofibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019203 MONDO:0002429 True acute interstitial pneumonia idiopathic interstitial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019204 MONDO:0002429 True respiratory bronchiolitis-interstitial lung disease syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019205 MONDO:0019287 True trichodysplasia-amelogenesis imperfecta syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0002120 True cutaneous neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0002656 True cutaneous neuroendocrine carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0003363 True cutaneous neuroendocrine carcinoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0017341 True cutaneous neuroendocrine carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019211 MONDO:0019284 True isolated congenital anonychia inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019212 MONDO:0006602 True disseminated superficial actinic porokeratosis porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019214 MONDO:0019052 True inborn carbohydrate metabolic disorder inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019215 MONDO:0000688 True classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019218 MONDO:0019256 True inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019219 MONDO:0019250 True inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019220 MONDO:0017758 True inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019222 MONDO:0019189 True inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019223 MONDO:0019243 True disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019225 MONDO:0019214 True disorder of gluconeogenesis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019226 MONDO:0017706 True glucose transport disorder disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019228 MONDO:0004736 True inborn disorder of histidine metabolism inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019228 MONDO:0019189 True inborn disorder of histidine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019229 MONDO:0019223 True inborn disorder of ketolysis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019230 MONDO:0019189 True inborn disorder of ornithine or proline metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019231 MONDO:0018605 True inborn disorder of pentose phosphate metabolism disorders of pentose/polyol metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0019046 True peroxisome biogenesis disorder leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0019053 True peroxisome biogenesis disorder peroxisomal disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0020127 True peroxisome biogenesis disorder hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019236 MONDO:0019254 True inborn disorder of purine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019237 MONDO:0019250 True inborn disorder of pyridoxine metabolism inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019238 MONDO:0019254 True inborn disorder of pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019239 MONDO:0019189 True inborn disorder of serine family metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019240 MONDO:0015327 True sterol biosynthesis disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019240 MONDO:0019256 True sterol biosynthesis disorder sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019241 MONDO:0019189 True inborn disorder of the gamma-glutamyl cycle inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019242 MONDO:0019189 True inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019243 MONDO:0019052 True inborn disorder of energy metabolism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019245 MONDO:0002561 True lysosomal lipid storage disorder lysosomal storage disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019246 MONDO:0002561 True inborn disorder of lysosomal amino acid transport lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019248 MONDO:0015327 True mucolipidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019248 MONDO:0017731 True mucolipidosis glycoproteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019249 MONDO:0002561 True mucopolysaccharidosis lysosomal storage disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019249 MONDO:0015327 True mucopolysaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019250 MONDO:0019052 True inborn disorder of biogenic amine metabolism and transport inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0015327 True oligosaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0017731 True oligosaccharidosis glycoproteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019253 MONDO:0019250 True metabolic disease involving other neurotransmitter deficiency inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019254 MONDO:0019052 True inborn disorder of purine or pyrimidine metabolism inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019255 MONDO:0019245 True sphingolipidosis lysosomal lipid storage disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019256 MONDO:0002525 True sterol metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019257 MONDO:0006507 True hemochromatosis type 2 hereditary hemochromatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019258 MONDO:0009861 True mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019259 MONDO:0009861 True classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0016295 True adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0020143 True adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0016295 True infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0020143 True infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0016295 True juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0020143 True juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019264 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019265 MONDO:0017186 True diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019266 MONDO:0019751 True SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019267 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019269 MONDO:0019268 True ichthyosis epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019270 MONDO:0019268 True erythrokeratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019272 MONDO:0019268 True hereditary palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019276 MONDO:0019268 True inherited epidermolysis bullosa epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019280 MONDO:0002917 True hypertrichosis disorder of pilosebaceous unit SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019284 MONDO:0002884 True inherited isolated nail anomaly nail disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019287 MONDO:0002254 True ectodermal dysplasia syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019287 MONDO:0021026 True ectodermal dysplasia syndrome hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019288 MONDO:0005093 True skin pigmentation disorder skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019289 MONDO:0019288 True hyperpigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019290 MONDO:0019288 True hypopigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019293 MONDO:0005093 True skin vascular disease skin disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019297 MONDO:0005833 True lymphedema lymphatic system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019306 MONDO:0017265 True congenital non-bullous ichthyosiform erythroderma autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019308 MONDO:0017612 True junctional epidermolysis bullosa inversa junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019309 MONDO:0017612 True late-onset junctional epidermolysis bullosa junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0017305 True Hermansky-Pudlak syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0017739 True Hermansky-Pudlak syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019312 MONDO:0021181 True Hermansky-Pudlak syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019314 MONDO:0019023 True cutaneous mastocytoma cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019315 MONDO:0019023 True diffuse cutaneous mastocytosis cutaneous mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019316 MONDO:0019023 True maculopapular cutaneous mastocytosis cutaneous mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019318 MONDO:0016831 True inflammatory linear verrucous epidermal nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019319 MONDO:0016831 True verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019320 MONDO:0016831 True acanthokeratolytic verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019321 MONDO:0021106 True atypical Werner syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019323 MONDO:0006594 True pemphigus erythematosus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0019324 MONDO:0006594 True pemphigus foliaceus pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019325 MONDO:0017318 True phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019326 MONDO:0017318 True phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019327 MONDO:0017318 True phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019329 MONDO:0002013 True microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019330 MONDO:0019278 True pili gemini hair anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019332 MONDO:0017675 True punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019333 MONDO:0015625 True autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019334 MONDO:0015625 True autosomal recessive hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019335 MONDO:0009861 True mild hyperphenylalaninemia phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019336 MONDO:0021055 True Gardner syndrome classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019337 MONDO:0002406 True autoimmune bullous skin disease dermatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019338 MONDO:0019751 True sarcoidosis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019340 MONDO:0005554 True scleroderma rheumatic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019342 MONDO:0002254 True Seckel syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019342 MONDO:0006025 True Seckel syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019344 MONDO:0020122 True antisynthetase syndrome acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019345 MONDO:0000314 True shigellosis primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019346 MONDO:0017734 True sialidosis type 1 sialidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019347 MONDO:0015947 True peeling skin syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0002254 True Sotos syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0016904 True Sotos syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019349 MONDO:0018230 True Sotos syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019350 MONDO:0003689 True hereditary spherocytosis familial hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019353 MONDO:0005150 True Stargardt disease age-related macular degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019354 MONDO:0002254 True Stickler syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019355 MONDO:0005578 True adult-onset Still disease arthritic joint disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019356 MONDO:0019755 True urogenital tract malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019358 MONDO:0015327 True encephalopathy due to sulfite oxidase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019358 MONDO:0019222 True encephalopathy due to sulfite oxidase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019359 MONDO:0001195 True Rocky mountain spotted fever spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019360 MONDO:0001195 True rickettsialpox spotted fever SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019362 MONDO:0001246 True epidemic louse-borne typhus typhus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019364 MONDO:0001195 True pseudotyphus of California spotted fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019365 MONDO:0001246 True scrub typhus typhus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019366 MONDO:0019246 True free sialic acid storage disease inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019371 MONDO:0021107 True narcolepsy without cataplexy narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019372 MONDO:0019060 True solitary bone cyst bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019373 MONDO:0006974 True desmoplastic small round cell tumor small cell sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019373 MONDO:0018078 True desmoplastic small round cell tumor soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019374 MONDO:0020043 True CAMOS syndrome autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019385 MONDO:0020640 True steroid-responsive encephalopathy associated with autoimmune thyroiditis autoimmune encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019387 MONDO:0015161 True macrostomia-preauricular tags-external ophthalmoplegia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019388 MONDO:0015161 True pelvis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0001713 True Fanconi anemia inherited aplastic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0015161 True Fanconi anemia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0018234 True Fanconi anemia dysostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0019054 True Fanconi anemia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019392 MONDO:0021110 True syringocystadenoma papilliferum sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019393 MONDO:0019218 True idiopathic malabsorption due to bile acid synthesis defects inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019396 MONDO:0019722 True collagen type III glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019398 MONDO:0016112 True desmin-related myopathy with Mallory body-like inclusions hereditary inclusion-body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019399 MONDO:0019119 True Isaac syndrome muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019402 MONDO:0000984 True beta thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019402 MONDO:0017145 True beta thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019403 MONDO:0003689 True congenital dyserythropoietic anemia familial hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019404 MONDO:0002547 True perineurioma nerve sheath neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019404 MONDO:0016749 True perineurioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019405 MONDO:0024237 True facial onset sensory and motor neuronopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019406 MONDO:0019695 True craniofacial conodysplasia acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019407 MONDO:0000426 True microcephalic osteodysplastic dysplasia, Saul-Wilson type autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019407 MONDO:0005497 True microcephalic osteodysplastic dysplasia, Saul-Wilson type bone development disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019408 MONDO:0019701 True Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019412 MONDO:0018230 True dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019413 MONDO:0018234 True ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019416 MONDO:0015159 True X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019418 MONDO:0015159 True X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019420 MONDO:0015159 True X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019422 MONDO:0015159 True X-linked intellectual disability, Stevenson type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019423 MONDO:0015159 True X-linked intellectual disability, Stoll type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019427 MONDO:0024237 True X-linked neurodegenerative syndrome, Bertini type inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019429 MONDO:0024237 True X-linked neurodegenerative syndrome, Hamel type inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019430 MONDO:0016612 True X-linked intellectual disability-ataxia-apraxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019432 MONDO:0018456 True rheumatoid factor-negative juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019433 MONDO:0011429 True oligoarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019434 MONDO:0011429 True systemic-onset juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019435 MONDO:0018456 True rheumatoid factor-positive polyarticular juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019436 MONDO:0011429 True psoriasis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019437 MONDO:0011429 True enthesitis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0016330 True AL amyloidosis non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0016345 True AL amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019439 MONDO:0016345 True AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019440 MONDO:0018590 True wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019441 MONDO:0016340 True ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019443 MONDO:0000153 True dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019443 MONDO:0005453 True dextro-looped transposition of the great arteries congenital heart disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019444 MONDO:0016128 True trichinellosis parasitic myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019446 MONDO:0018432 True localized lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019447 MONDO:0018432 True atypical lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019448 MONDO:0020073 True benign adult familial myoclonic epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019449 MONDO:0015148 True lissencephaly type 3-familial fetal akinesia sequence syndrome lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019450 MONDO:0018838 True lissencephaly with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019451 MONDO:0001014 True chronic neutrophilic leukemia chronic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019451 MONDO:0020076 True chronic neutrophilic leukemia myeloproliferative neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019452 MONDO:0020076 True myeloproliferative neoplasm, unclassifiable myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019453 MONDO:0018881 True myelodysplastic syndrome with multilineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019454 MONDO:0018881 True myelodysplastic syndrome with excess blasts myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019455 MONDO:0015667 True acute panmyelosis with myelofibrosis acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019456 MONDO:0018874 True acute myeloid leukemia with multilineage dysplasia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019457 MONDO:0018874 True therapy related acute myeloid leukemia and myelodysplastic syndrome acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019458 MONDO:0015667 True acute basophilic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019460 MONDO:0018874 True acute leukemia of ambiguous lineage acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019461 MONDO:0001023 True B-cell prolymphocytic leukemia prolymphocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019461 MONDO:0004949 True B-cell prolymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019461 MONDO:0017595 True B-cell prolymphocytic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019462 MONDO:0017604 True splenic marginal zone lymphoma marginal zone lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019463 MONDO:0004959 True non-amyloid monoclonal immunoglobulin deposition disease plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019464 MONDO:0004959 True heavy chain disease plasma cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019465 MONDO:0017604 True nodal marginal zone B-cell lymphoma marginal zone lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019466 MONDO:0017343 True lymphomatoid granulomatosis Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019466 MONDO:0018905 True lymphomatoid granulomatosis diffuse large B-cell lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019467 MONDO:0015760 True CD4+/CD56+ hematodermic neoplasm T-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019468 MONDO:0001023 True T-cell prolymphocytic leukemia prolymphocytic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019469 MONDO:0001014 True T-cell large granular lymphocyte leukemia chronic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019469 MONDO:0005046 True T-cell large granular lymphocyte leukemia immune system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019469 MONDO:0005402 True T-cell large granular lymphocyte leukemia lymphoid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019470 MONDO:0001014 True aggressive NK-cell leukemia chronic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019471 MONDO:0003660 True adult T-cell leukemia/lymphoma adult lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019471 MONDO:0015760 True adult T-cell leukemia/lymphoma T-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019471 MONDO:0017341 True adult T-cell leukemia/lymphoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019472 MONDO:0005062 True extranodal nasal NK/T cell lymphoma lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019472 MONDO:0017343 True extranodal nasal NK/T cell lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019473 MONDO:0015760 True enteropathy-associated T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019474 MONDO:0015760 True hepatosplenic T-cell lymphoma T-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019475 MONDO:0015816 True subcutaneous panniculitis-like T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019476 MONDO:0015758 True primary cutaneous peripheral T-cell lymphoma not otherwise specified primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019478 MONDO:0003660 True adult nodular lymphocyte predominant Hodgkin lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019478 MONDO:0044778 True adult nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019479 MONDO:0006247 True histiocytic sarcoma histiocytic and dendritic cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019480 MONDO:0020082 True Langerhans cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019482 MONDO:0020082 True dendritic cell sarcoma not otherwise specified dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019483 MONDO:0005062 True methotrexate-associated lymphoproliferative disorders lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019483 MONDO:0020083 True methotrexate-associated lymphoproliferative disorders immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0020071 True idiopathic hemiconvulsion-hemiplegia syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0020072 True idiopathic hemiconvulsion-hemiplegia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019487 MONDO:0020072 True epilepsy with myoclonic absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019488 MONDO:0020071 True myoclonic epilepsy in non-progressive encephalopathies infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019489 MONDO:0017666 True diffuse palmoplantar keratoderma - acrocyanosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019490 MONDO:0000992 True progressive familial heart block heart conduction disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019496 MONDO:0002082 True neuroendocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019498 MONDO:0002875 True tungiasis parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0001967 True Turner syndrome gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0017975 True Turner syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0019852 True Turner syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019500 MONDO:0020539 True extragonadal teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019501 MONDO:0002254 True Usher syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019501 MONDO:0006025 True Usher syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019502 MONDO:0006025 True autosomal recessive non-syndromic intellectual disability autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019503 MONDO:0003847 True anterior segment dysgenesis hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019503 MONDO:0005328 True anterior segment dysgenesis eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019507 MONDO:0004038 True amelogenesis imperfecta dental enamel hypoplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019508 MONDO:0002254 True van der Woude syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019508 MONDO:0015161 True van der Woude syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019509 MONDO:0015491 True cutaneous leukocytoclastic angiitis immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019514 MONDO:0002405 True hepatic veno-occlusive disease hepatic vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019516 MONDO:0002311 True exudative vitreoretinopathy retinal vascular disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019517 MONDO:0018094 True Waardenburg syndrome type 2 Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019522 MONDO:0006543 True recessive dystrophic epidermolysis bullosa-generalized other epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019524 MONDO:0015231 True Bartter syndrome type 4 Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019525 MONDO:0019852 True tetrasomy X inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019526 MONDO:0015491 True erythema elevatum diutinum immune complex mediated vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019532 MONDO:0020108 True autoimmune hemolytic anemia, warm type autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019533 MONDO:0016450 True paroxysmal cold hemoglobinuria autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019534 MONDO:0020108 True mixed-type autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019535 MONDO:0020108 True drug-induced autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019536 MONDO:0034103 True Shiga toxin-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019537 MONDO:0002280 True hemoglobin D disease anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019537 MONDO:0019050 True hemoglobin D disease inherited hemoglobinopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019538 MONDO:0016541 True Gaisbock syndrome acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019548 MONDO:0018778 True autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019552 MONDO:0019194 True centrifugal lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019553 MONDO:0019194 True drug-induced localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019554 MONDO:0019194 True idiopathic localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019555 MONDO:0019194 True panniculitis and localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019556 MONDO:0019194 True pressure-induced localized lipoatrophy localized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019557 MONDO:0015574 True chilblain lupus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019557 MONDO:0019293 True chilblain lupus skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019558 MONDO:0015574 True discoid lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019559 MONDO:0015574 True hypertrophic or verrucous lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019560 MONDO:0015574 True lupus erythematosus tumidus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019561 MONDO:0015574 True lupus erythematosus panniculitis chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019562 MONDO:0019340 True localized scleroderma scleroderma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019563 MONDO:0002254 True CREST syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019565 MONDO:0021181 True hereditary von Willebrand disease inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019569 MONDO:0016006 True Cockayne syndrome type 1 Cockayne syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019570 MONDO:0016006 True Cockayne syndrome type 2 Cockayne syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019571 MONDO:0000426 True autosomal dominant cutis laxa autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019572 MONDO:0006025 True autosomal recessive cutis laxa type 1 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019573 MONDO:0017355 True autosomal recessive cutis laxa type 2 inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019573 MONDO:0018230 True autosomal recessive cutis laxa type 2 skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019574 MONDO:0018178 True secondary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019575 MONDO:0004907 True hypotrichosis simplex of the scalp alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019576 MONDO:0019316 True telangiectasia macularis eruptiva perstans maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019577 MONDO:0019211 True anonychia-onychodystrophy syndrome isolated congenital anonychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019578 MONDO:0019446 True nodular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019579 MONDO:0019446 True discrete papular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019580 MONDO:0019446 True papular mucinosis of infancy localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019581 MONDO:0019446 True acral persistent papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019582 MONDO:0019446 True self-healing papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019583 MONDO:0019447 True localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019584 MONDO:0019447 True localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019585 MONDO:0019447 True scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019587 MONDO:0000426 True autosomal dominant nonsyndromic hearing loss autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019588 MONDO:0006025 True hearing loss, autosomal recessive autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019600 MONDO:0015951 True xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019605 MONDO:0019722 True immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019606 MONDO:0015923 True simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019607 MONDO:0011429 True unspecified juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019609 MONDO:0015327 True Zellweger spectrum disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019609 MONDO:0019234 True Zellweger spectrum disorders peroxisome biogenesis disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019612 MONDO:0003429 True functioning gonadotropic adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019613 MONDO:0006373 True non-functioning pituitary adenoma pituitary gland adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019614 MONDO:0015127 True pituitary deficiency due to Rathke's pouch cysts pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019615 MONDO:0021227 True pituitary dermoid and epidermoid cysts adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019617 MONDO:0015127 True pituitary deficiency due to empty sella turcica syndrome pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019621 MONDO:0017019 True chronic pneumonitis of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019622 MONDO:0002429 True non-specific interstitial pneumonia idiopathic interstitial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019623 MONDO:0010481 True hereditary angioedema angioedema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019624 MONDO:0010481 True acquired angioedema angioedema SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019628 MONDO:0011119 True Rieger anomaly iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019629 MONDO:0000942 True sclerocornea corneal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019630 MONDO:0011119 True congenital ectropion uveae iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019631 MONDO:0004860 True persistent hyperplastic primary vitreous vitreous disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019632 MONDO:0000314 True Lyme disease primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019633 MONDO:0000314 True relapsing fever primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019634 MONDO:0018751 True familial nasal acilia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019636 MONDO:0018470 True renal agenesis, unilateral renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019637 MONDO:0005240 True renal hypoplasia kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019640 MONDO:0018559 True posterior urethral valve fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019642 MONDO:0017323 True vitamin D-dependent rickets, type 2 hypocalcemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019643 MONDO:0018638 True transient pseudohypoaldosteronism pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019644 MONDO:0019638 True renal dysplasia, unilateral renal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019645 MONDO:0019638 True renal dysplasia, bilateral renal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019646 MONDO:0019639 True unilateral congenital megacalycosis congenital megacalycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019647 MONDO:0019639 True congenital bilateral megacalycosis congenital megacalycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019648 MONDO:0005516 True achondrogenesis osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019648 MONDO:0019694 True achondrogenesis spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019659 MONDO:0007043 True Pfeiffer syndrome type 1 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019660 MONDO:0007043 True Pfeiffer syndrome type 2 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019661 MONDO:0007043 True Pfeiffer syndrome type 3 Pfeiffer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019662 MONDO:0015461 True short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019665 MONDO:0000845 True monostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019666 MONDO:0100510 True spondyloepimetaphyseal dysplasia, PAPSS2 type spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019667 MONDO:0016761 True spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019669 MONDO:0019648 True hypochondrogenesis achondrogenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019669 MONDO:0022800 True hypochondrogenesis type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019670 MONDO:0016240 True ulnar hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019671 MONDO:0016240 True radial hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019672 MONDO:0016240 True fibular hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019675 MONDO:0100510 True spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019681 MONDO:0009738 True juvenile sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019682 MONDO:0009738 True congenital sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019691 MONDO:0018230 True short rib dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019694 MONDO:0018230 True spondylodysplastic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019695 MONDO:0018230 True acromelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019696 MONDO:0005516 True acromesomelic dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019696 MONDO:0018230 True acromesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019698 MONDO:0018230 True bent bone dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019701 MONDO:0018230 True chondrodysplasia punctata skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019702 MONDO:0018230 True neonatal osteosclerotic dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019707 MONDO:0018230 True primary osteolysis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019719 MONDO:0019755 True congenital anomaly of kidney and urinary tract developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019726 MONDO:0007407 True type II mixed cryoglobulinemia Cryoglobulinemic vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019727 MONDO:0007407 True mixed cryoglobulinemia type III Cryoglobulinemic vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019728 MONDO:0019463 True heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019729 MONDO:0019463 True light and heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019730 MONDO:0019463 True light chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019731 MONDO:0007099 True AApoAI amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019732 MONDO:0007099 True ALys amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019733 MONDO:0007099 True AFib amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019734 MONDO:0018010 True juvenile polymyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019736 MONDO:0018904 True dense deposit disease primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019739 MONDO:0016244 True atypical hemolytic-uremic syndrome with anti-factor H antibodies atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019740 MONDO:0018896 True acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019742 MONDO:0019005 True late-onset nephronophthisis nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019745 MONDO:0009067 True cystinuria type A cystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019746 MONDO:0009067 True cystinuria type B cystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019753 MONDO:0015564 True localized Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019754 MONDO:0015157 True multicentric Castleman disease human herpesvirus 8-related tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019754 MONDO:0015564 True multicentric Castleman disease Castleman disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019756 MONDO:0016296 True lobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019757 MONDO:0016296 True alobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019759 MONDO:0017919 True epispadias exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019761 MONDO:0016060 True laryngotracheoesophageal cleft type 1 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019762 MONDO:0016060 True laryngotracheoesophageal cleft type 2 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019763 MONDO:0016060 True laryngotracheoesophageal cleft type 3 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019764 MONDO:0016060 True laryngotracheoesophageal cleft type 4 laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019766 MONDO:0010653 True X-linked intellectual disability, Porteous type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019767 MONDO:0010653 True hamel cerebro-palato-cardiac syndrome Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019768 MONDO:0010653 True X-linked intellectual disability, Golabi-Ito-hall type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019769 MONDO:0010653 True X-linked intellectual disability, Sutherland-Haan type Renpenning syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019771 MONDO:0000477 True oromandibular dystonia focal dystonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019771 MONDO:0015990 True oromandibular dystonia focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019772 MONDO:0015990 True blepharospasm-oromandibular dystonia syndrome focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019773 MONDO:0017069 True myelomeningocele spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019780 MONDO:0019755 True anotia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019781 MONDO:0021636 True astrocytoma (excluding glioblastoma) astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019783 MONDO:0005041 True neovascular glaucoma glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019784 MONDO:0016877 True 12q14 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019786 MONDO:0015159 True severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019789 MONDO:0019296 True cytophagic histiocytic panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019790 MONDO:0005071 True neuroleptic malignant syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0019791 MONDO:0016798 True recessive mitochondrial ataxia syndrome ataxia neuropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019791 MONDO:0020044 True recessive mitochondrial ataxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019792 MONDO:0020380 True autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019793 MONDO:0020380 True autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019794 MONDO:0020380 True autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0015483 True acrodysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0018234 True acrodysostosis dysostosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0019695 True acrodysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019801 MONDO:0015128 True acute adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019802 MONDO:0015183 True secondary short bowel syndrome short bowel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019803 MONDO:0002300 True angioma serpiginosum dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019803 MONDO:0003110 True angioma serpiginosum skin hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019803 MONDO:0016231 True angioma serpiginosum capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019803 MONDO:0019293 True angioma serpiginosum skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019804 MONDO:0002567 True tracheomalacia tracheal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019805 MONDO:0001240 True twin to twin transfusion syndrome neonatal anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019807 MONDO:0019512 True mesocardia congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019808 MONDO:0017735 True aortic valve atresia congenital aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019810 MONDO:0017396 True toxic epidermal necrolysis toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019811 MONDO:0020289 True tricuspid valve agenesis congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019813 MONDO:0020289 True congenital tricuspid stenosis congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019814 MONDO:0020289 True straddling or overriding tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019815 MONDO:0020289 True accessory tricuspid valve tissue congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019817 MONDO:0016582 True congenital mitral valve insufficiency and/or stenosis congenital mitral malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019818 MONDO:0016582 True cleft mitral valve congenital mitral malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019819 MONDO:0019818 True double-orifice mitral valve cleft mitral valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019820 MONDO:0019512 True univentricular cardiopathy congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019823 MONDO:0020292 True premature closure of the arterial duct congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019824 MONDO:0015127 True non-acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019824 MONDO:0015514 True non-acquired pituitary hormone deficiency hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019825 MONDO:0015203 True congenital coronary artery aneurysm coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019828 MONDO:0019824 True pituitary stalk interruption syndrome non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019832 MONDO:0015127 True acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019835 MONDO:0019832 True primary hypophysitis acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019838 MONDO:0019835 True adenohypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019839 MONDO:0019835 True panhypophysitis primary hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019845 MONDO:0019832 True iatrogenic or traumatic pituitary deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019846 MONDO:0015790 True acquired central diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019857 MONDO:0016555 True congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019858 MONDO:0018612 True idiopathic congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019862 MONDO:0018677 True levocardia visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019870 MONDO:0017012 True distal trisomy 1p36 partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019871 MONDO:0016939 True distal trisomy 2p partial duplication of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019872 MONDO:0016940 True distal trisomy 3p partial duplication of the short arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019873 MONDO:0016941 True 4p16.3 microduplication syndrome partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019873 MONDO:0019716 True 4p16.3 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019874 MONDO:0016944 True distal trisomy 7p partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019875 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019875 MONDO:0016948 True Beckwith-Wiedemann syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019877 MONDO:0016953 True distal trisomy 2q partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019878 MONDO:0016954 True 3q26 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019879 MONDO:0016955 True distal trisomy 4q partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019880 MONDO:0016956 True distal trisomy 5q partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019881 MONDO:0016957 True distal trisomy 6q partial duplication of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019882 MONDO:0016959 True distal trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019883 MONDO:0016960 True distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019884 MONDO:0016961 True distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019885 MONDO:0022173 True distal trisomy 11q chromosome 11q trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019886 MONDO:0022177 True distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019887 MONDO:0016966 True distal trisomy 16q partial trisomy of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019888 MONDO:0016970 True distal trisomy 20q partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019889 MONDO:0016972 True distal trisomy 22q partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019890 MONDO:0016960 True non-distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019892 MONDO:0016889 True distal monosomy 7p partial deletion of the short arm of chromosome 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019893 MONDO:0016897 True distal monosomy 19p13.3 partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019895 MONDO:0016903 True distal monosomy 4q partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019896 MONDO:0016908 True Kleefstra syndrome due to 9q34 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019897 MONDO:0016877 True distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019898 MONDO:0016912 True distal monosomy 14q partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019900 MONDO:0016877 True non-distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019902 MONDO:0016911 True monosomy 13q34 partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019913 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019915 MONDO:0014541 True maternal uniparental disomy of chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019923 MONDO:0007534 True Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019926 MONDO:0019852 True X small rings inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019928 MONDO:0017975 True 48,XXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019929 MONDO:0017975 True 49,XXXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019933 MONDO:0006793 True acromegaly hyperpituitarism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019934 MONDO:0019040 True polyploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019941 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019942 MONDO:0003939 True distal arthrogryposis muscle tissue disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019942 MONDO:0015225 True distal arthrogryposis arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019944 MONDO:0015924 True Eisenmenger syndrome pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019948 MONDO:0019952 True reducing body myopathy congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019950 MONDO:0020121 True congenital muscular dystrophy muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0016187 True rigid spine syndrome qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0016197 True rigid spine syndrome qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019951 MONDO:0019950 True rigid spine syndrome congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019952 MONDO:0005336 True congenital myopathy myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019954 MONDO:0000386 True pancreatic neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019954 MONDO:0005815 True pancreatic neuroendocrine tumor pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019955 MONDO:0019954 True GRFoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019956 MONDO:0005560 True encephalitis brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019957 MONDO:0019954 True PPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019959 MONDO:0019954 True glucagonoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019960 MONDO:0019954 True VIPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019962 MONDO:0002108 True thyroid lymphoma thyroid cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019962 MONDO:0017207 True thyroid lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019963 MONDO:0019496 True bronchial endocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019964 MONDO:0005197 True thymic neuroendocrine tumor thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019964 MONDO:0019496 True thymic neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019967 MONDO:0018381 True Kienbock disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019969 MONDO:0018381 True panner disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019970 MONDO:0018381 True Sinding-Larsen-Johansson disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019975 MONDO:0006873 True pellagra nutritional deficiency disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019978 MONDO:0002254 True Robinow syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019978 MONDO:0018230 True Robinow syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019979 MONDO:0019637 True renal hypoplasia, unilateral renal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019980 MONDO:0019637 True renal hypoplasia, bilateral renal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019981 MONDO:0015988 True unilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019982 MONDO:0015988 True bilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019984 MONDO:0017609 True renal tubular dysgenesis due to twin-twin transfusion renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019985 MONDO:0017609 True drug-related renal tubular dysgenesis renal tubular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019988 MONDO:0019641 True pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019989 MONDO:0019641 True pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019990 MONDO:0019605 True non-amyloid fibrillary glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019991 MONDO:0019605 True immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0004689 True pseudohypoparathyroidism inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0015327 True pseudohypoparathyroidism developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0015962 True pseudohypoparathyroidism inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019992 MONDO:0016165 True pseudohypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020007 MONDO:0020292 True absence of the pulmonary artery congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020022 MONDO:0019755 True central nervous system malformation developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020040 MONDO:0002145 True 46,XY disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020043 MONDO:0015244 True autosomal recessive congenital cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020044 MONDO:0015244 True autosomal recessive metabolic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020046 MONDO:0015244 True autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020047 MONDO:0015244 True autosomal recessive syndromic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020049 MONDO:0019040 True autosomal anomaly chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020058 MONDO:0019040 True gonosome anomaly chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020064 MONDO:0016581 True pulmonary valve agenesis conotruncal heart malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020065 MONDO:0044807 True combined dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020066 MONDO:0019755 True Ehlers-Danlos syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020070 MONDO:0015650 True neonatal epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020071 MONDO:0015650 True infantile epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020072 MONDO:0015650 True childhood-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020073 MONDO:0015650 True adolescent-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0020072 True progressive myoclonus epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0020073 True progressive myoclonus epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0100036 True progressive myoclonus epilepsy variable age onset epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020076 MONDO:0005170 True myeloproliferative neoplasm myeloid neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020076 MONDO:0015756 True myeloproliferative neoplasm myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020076 MONDO:0021138 True myeloproliferative neoplasm bone marrow cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020077 MONDO:0015756 True myelodysplastic/myeloproliferative disease myeloid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020082 MONDO:0006247 True dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020083 MONDO:0015757 True immunodeficiency-associated lymphoproliferative disease lymphoid hemopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0020087 True familial partial lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0027767 True familial partial lipodystrophy partial lipodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020099 MONDO:0015194 True inherited sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020108 MONDO:0000602 True autoimmune hemolytic anemia autoimmune disorder of blood SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020108 MONDO:0003664 True autoimmune hemolytic anemia hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020112 MONDO:0016624 True vitamin B12- and folate-independent constitutional megaloblastic anemia inherited deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020113 MONDO:0015610 True primary acquired red cell aplasia acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020115 MONDO:0005571 True secondary polycythemia polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020119 MONDO:0000508 True X-linked syndromic intellectual disability syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020121 MONDO:0005336 True muscular dystrophy myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020121 MONDO:0019056 True muscular dystrophy neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020122 MONDO:0016105 True acquired idiopathic inflammatory myopathy acquired skeletal muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020124 MONDO:0019056 True neuromuscular junction disease neuromuscular disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020128 MONDO:0005559 True motor neuron disorder neurodegenerative disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020128 MONDO:0019056 True motor neuron disorder neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020129 MONDO:0020128 True acquired motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020135 MONDO:0020022 True pontocerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020143 MONDO:0005560 True cerebral lipidosis with dementia brain disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020143 MONDO:0015547 True cerebral lipidosis with dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020179 MONDO:0005073 True palpebral nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020204 MONDO:0006170 True conjunctival tumor conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020204 MONDO:0021220 True conjunctival tumor eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020212 MONDO:0018102 True superficial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020213 MONDO:0018102 True stromal corneal dystrophy corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020214 MONDO:0018102 True posterior corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020250 MONDO:0020249 True autosomal dominant optic atrophy hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020283 MONDO:0002661 True uveitis uveal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020290 MONDO:0002078 True familial atrioventricular septal defect heart septal defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020291 MONDO:0019820 True hypoplastic right heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020292 MONDO:0019512 True congenital anomaly of the great arteries congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020297 MONDO:0021060 True Noonan syndrome and Noonan-related syndrome RASopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020298 MONDO:0008300 True Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020300 MONDO:0002612 True autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020300 MONDO:0017704 True autosomal dominant nocturnal frontal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020301 MONDO:0008300 True Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020301 MONDO:0016913 True Prader-Willi syndrome due to paternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020302 MONDO:0007113 True Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020302 MONDO:0016913 True Angelman syndrome due to maternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020303 MONDO:0007113 True Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020304 MONDO:0019935 True isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020305 MONDO:0019935 True isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020307 MONDO:0007558 True benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020308 MONDO:0007558 True benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020310 MONDO:0017704 True familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020311 MONDO:0001014 True chronic myelomonocytic leukemia chronic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020311 MONDO:0006311 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020311 MONDO:0020077 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020316 MONDO:0018874 True acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020317 MONDO:0018874 True acute myeloid leukemia with 11q23 abnormalities acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020322 MONDO:0020743 True acute biphenotypic leukemia mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020323 MONDO:0000951 True primary mediastinal large B-cell lymphoma thymus lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020325 MONDO:0000430 True anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020326 MONDO:0018897 True lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020327 MONDO:0009348 True classic Hodgkin lymphoma, nodular sclerosis type classic Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020331 MONDO:0016586 True indolent systemic mastocytosis systemic mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020332 MONDO:0016586 True systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020333 MONDO:0016586 True aggressive systemic mastocytosis systemic mastocytosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020334 MONDO:0005059 True mast cell leukemia leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020334 MONDO:0016586 True mast cell leukemia systemic mastocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020336 MONDO:0016830 True autosomal dominant Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020336 MONDO:0021106 True autosomal dominant Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020337 MONDO:0019403 True congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020338 MONDO:0020113 True adult pure red cell aplasia primary acquired red cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020340 MONDO:0017091 True bilateral perisylvian polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020341 MONDO:0002320 True periventricular nodular heterotopia congenital nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020341 MONDO:0016292 True periventricular nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020344 MONDO:0018940 True postsynaptic congenital myasthenic syndrome congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020347 MONDO:0016218 True acute inflammatory demyelinating polyradiculoneuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020348 MONDO:0016218 True acute motor and sensory axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020349 MONDO:0016218 True acute motor axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020352 MONDO:0007803 True multiple system atrophy, parkinsonian type multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020359 MONDO:0007410 True congenital symblepharon isolated cryptophthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020360 MONDO:0007410 True complete cryptophthalmia isolated cryptophthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020361 MONDO:0007410 True partial cryptophthalmia isolated cryptophthalmia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020362 MONDO:0007946 True inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020363 MONDO:0020212 True honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020364 MONDO:0020214 True posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020365 MONDO:0020214 True congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020367 MONDO:0005338 True juvenile open angle glaucoma open-angle glaucoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020367 MONDO:0018174 True juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020369 MONDO:0018102 True Chandler syndrome corneal dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020369 MONDO:0018988 True Chandler syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020370 MONDO:0018988 True Cogan-Reese syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020371 MONDO:0018988 True essential iris atrophy iridocorneal endothelial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020372 MONDO:0020379 True early-onset sutural cataract early-onset zonular cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020373 MONDO:0020377 True early-onset anterior polar cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020374 MONDO:0020377 True cerulean cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020376 MONDO:0020379 True early-onset nuclear cataract early-onset zonular cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020377 MONDO:0011060 True early-onset partial cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020379 MONDO:0020377 True early-onset zonular cataract early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0000426 True autosomal dominant cerebellar ataxia autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0015547 True autosomal dominant cerebellar ataxia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0024237 True autosomal dominant cerebellar ataxia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020381 MONDO:0003004 True patterned macular dystrophy macular degeneration SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020382 MONDO:0018973 True multifocal pattern dystrophy simulating fundus flavimaculatus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020383 MONDO:0018973 True fundus pulverulentus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020385 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with coarctation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020386 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020387 MONDO:0018089 True double outlet right ventricle with subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020388 MONDO:0018089 True double outlet right ventricle with non-committed subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020389 MONDO:0020064 True pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020390 MONDO:0015239 True pulmonary artery coming from patent ductus arteriosus abnormal origin of the pulmonary artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020391 MONDO:0015239 True pulmonary artery coming from the aorta abnormal origin of the pulmonary artery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020393 MONDO:0017727 True discrete fibromuscular subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020394 MONDO:0017727 True tunnel subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020395 MONDO:0017865 True valvar pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020396 MONDO:0020289 True anomaly of the tricuspid valve chordae congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020397 MONDO:0020289 True parachute tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020398 MONDO:0019817 True congenital mitral stenosis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020399 MONDO:0019817 True congenital hypoplasia of the mitral valve annulus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020400 MONDO:0019817 True congenital supravalvular mitral ring congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020401 MONDO:0019817 True congenital unguarded mitral orifice congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020402 MONDO:0019817 True congenital accessory mitral valve tissue congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020403 MONDO:0019817 True congenital mitral valve agenesis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020404 MONDO:0019817 True shone complex congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020405 MONDO:0019818 True straddling and/or overriding mitral valve cleft mitral valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020407 MONDO:0015273 True complete atrioventricular canal-ventricle hypoplasia syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020408 MONDO:0015273 True complete atrioventricular canal-tetralogy of fallot syndrome complete atrioventricular canal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020410 MONDO:0018082 True aorto-right ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020411 MONDO:0018082 True aorto-left ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020412 MONDO:0020292 True congenital patent ductus arteriosus aneurysm congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020413 MONDO:0015236 True encircling double aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020414 MONDO:0015236 True persistent fifth aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020415 MONDO:0015236 True Kommerell diverticulum aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020416 MONDO:0015236 True Neuhauser anomaly aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020417 MONDO:0015236 True right aortic arch aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020418 MONDO:0015236 True dysphagia lusoria aortic arch defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020419 MONDO:0020292 True pulmonary artery hypoplasia congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020420 MONDO:0020292 True pulmonary branch stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020423 MONDO:0015203 True stenosis or atrophy of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020425 MONDO:0015203 True abnormal number of coronary ostia coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020426 MONDO:0015203 True malposition of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020427 MONDO:0019512 True Laubry-Pezzi syndrome congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020428 MONDO:0019512 True congenital Gerbode defect congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020429 MONDO:0015450 True cor triatriatum dexter triatrial heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020430 MONDO:0015450 True cor triatriatum sinister triatrial heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020431 MONDO:0019512 True juxtaposition of the atrial appendages congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020432 MONDO:0019512 True ectasia of the right atrial appendage congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020433 MONDO:0019512 True ectasia of the left appendage congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020434 MONDO:0006664 True atrial septal defect, ostium secundum type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020435 MONDO:0006664 True atrial septal defect, coronary sinus type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020436 MONDO:0006664 True atrial septal defect, sinus venosus type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020437 MONDO:0006664 True atrial septal defect, ostium primum type atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020438 MONDO:0019512 True atrial septal aneurysm congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020439 MONDO:0006664 True patent foramen ovale atrial septal defect SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020440 MONDO:0019829 True persistent left superior vena cava connecting to the left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020441 MONDO:0019829 True right superior vena cava connecting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020442 MONDO:0019829 True left superior vena cava persisting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020443 MONDO:0019829 True absence of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020444 MONDO:0019829 True subaortic course of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020445 MONDO:0019829 True agenesis of the superior vena cava congenital anomaly of superior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020448 MONDO:0019830 True right inferior vena cava connecting to left-sided atrium congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020449 MONDO:0019830 True persistent eustachian valve congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020450 MONDO:0019830 True azygos continuation of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020451 MONDO:0019830 True congenital stenosis of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020452 MONDO:0019830 True inferior vena cava interruption congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020453 MONDO:0017705 True congenital partial pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020454 MONDO:0017300 True congenital complete agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020455 MONDO:0017300 True congenital partial agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020456 MONDO:0017300 True pleuro-pericardial cyst congenital pericardium anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020458 MONDO:0019236 True hemolytic anemia due to erythrocyte adenosine deaminase overproduction inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020459 MONDO:0019050 True unstable hemoglobin disease inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020463 MONDO:0020161 True isolated congenital ectropion congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020466 MONDO:0019499 True monosomy X Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020470 MONDO:0015161 True 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020472 MONDO:0019499 True Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020474 MONDO:0018230 True cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020475 MONDO:0019287 True dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020476 MONDO:0017704 True mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020478 MONDO:0016387 True Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020480 MONDO:0004689 True sulfite oxidase deficiency due to molybdenum cofactor deficiency inborn metal metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020480 MONDO:0019358 True sulfite oxidase deficiency due to molybdenum cofactor deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020481 MONDO:0018959 True myotonia fluctuans potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020482 MONDO:0018959 True myotonia permanens potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020483 MONDO:0018959 True acetazolamide-responsive myotonia potassium-aggravated myotonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020487 MONDO:0005823 True Pontiac fever legionellosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020488 MONDO:0019037 True atypical progressive supranuclear palsy syndrome progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020491 MONDO:0002320 True subcortical band heterotopia congenital nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020494 MONDO:0016910 True oculootodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020496 MONDO:0017410 True familial porencephaly porencephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020497 MONDO:0021055 True Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020500 MONDO:0018087 True Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020502 MONDO:0018093 True yellow fever arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020504 MONDO:0019052 True hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020505 MONDO:0019046 True ravine syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020507 MONDO:0800448 True leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020508 MONDO:0017987 True primary syringomyelia syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020509 MONDO:0017987 True secondary syringomyelia syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020510 MONDO:0020508 True idiopathic syringomyelia primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020511 MONDO:0004967 True precursor B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020512 MONDO:0004967 True precursor T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020513 MONDO:0003669 True spermatocytic seminoma testicular seminoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020516 MONDO:0006451 True thymic neuroendocrine carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020517 MONDO:0018310 True eosinophilic granuloma Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020519 MONDO:0018310 True hand-Schuller-Christian disease Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020525 MONDO:0016391 True transient neonatal diabetes mellitus neonatal diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020526 MONDO:0018872 True acute megakaryoblastic leukemia in down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020527 MONDO:0020528 True ectopic Cushing syndrome ACTH-dependent Cushing syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020528 MONDO:0006793 True ACTH-dependent Cushing syndrome hyperpituitarism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020528 MONDO:0018912 True ACTH-dependent Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0020530 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020532 MONDO:0000314 True spirillary rat-bite fever primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020532 MONDO:0006941 True spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020533 MONDO:0000314 True streptobacillary rat-bite fever primary bacterial infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020533 MONDO:0006941 True streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020535 MONDO:0017853 True house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020538 MONDO:0018171 True malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020539 MONDO:0018201 True extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020540 MONDO:0021657 True ovarian gynandroblastoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020541 MONDO:0018172 True maligant granulosa cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020541 MONDO:0023283 True maligant granulosa cell tumor of ovary ovarian granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020542 MONDO:0018172 True malignant Sertoli-Leydig cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020543 MONDO:0018172 True theca steroid-producing cell malignant tumor of ovary, not further specified malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020544 MONDO:0001881 True streptococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020545 MONDO:0001881 True staphylococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020545 MONDO:0017592 True staphylococcal toxic-shock syndrome staphylococcal toxemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020546 MONDO:0013730 True acute graft versus host disease graft versus host disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020547 MONDO:0013730 True chronic graft versus host disease graft versus host disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020549 MONDO:0006248 True invasive hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020549 MONDO:0018944 True invasive hydatidiform mole gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020550 MONDO:0001416 True gestational choriocarcinoma female reproductive organ cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020550 MONDO:0005207 True gestational choriocarcinoma choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophoblastic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020552 MONDO:0005207 True placental site trophoblastic tumor choriocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020553 MONDO:0015925 True secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020554 MONDO:0020553 True Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020558 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020560 MONDO:0002728 True atypical teratoid rhabdoid tumor rhabdoid tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020561 MONDO:0005060 True myxoid/round cell liposarcoma liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020562 MONDO:0005060 True pleomorphic liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020563 MONDO:0005060 True dedifferentiated liposarcoma liposarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020568 MONDO:0019147 True cutaneous myiasis myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020571 MONDO:0019362 True relapsing epidemic typhus epidemic louse-borne typhus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020572 MONDO:0019369 True complex regional pain syndrome type 2 complex regional pain syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020574 MONDO:0003000 True central nervous system nongerminomatous germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020577 MONDO:0003751 True childhood gonadal germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020580 MONDO:0005040 True germinomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020581 MONDO:0006359 True benign PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020581 MONDO:0044335 True benign PEComa benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020582 MONDO:0021629 True benign uterine ligament neoplasm uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020588 MONDO:0006359 True lung PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020588 MONDO:0021117 True lung PEComa lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020589 MONDO:0018201 True cardiac germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020589 MONDO:0021209 True cardiac germ cell tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020593 MONDO:0024666 True trichoblastoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020596 MONDO:0004993 True mucin-producing carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020602 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 1 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020604 MONDO:0000425 True X-linked dominant disease X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020605 MONDO:0000425 True X-linked recessive disease X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020607 MONDO:0008323 True Liddle syndrome 1 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020628 MONDO:0020629 True microcephaly, growth restriction, and increased sister chromatid exchange 2 microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020633 MONDO:0004992 True anaplastic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020634 MONDO:0016642 True grade III meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020635 MONDO:0020633 True anaplastic meningioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020635 MONDO:0020634 True anaplastic meningioma grade III meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020635 MONDO:0021322 True anaplastic meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020638 MONDO:0005012 True superficial spreading melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020640 MONDO:0019956 True autoimmune encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020641 MONDO:0005070 True respiratory tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020641 MONDO:0005087 True respiratory tract neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020644 MONDO:0003987 True lung non-Hodgkin lymphoma lung lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020644 MONDO:0018908 True lung non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020646 MONDO:0018908 True ocular adnexal lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020649 MONDO:0020656 True warty carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020653 MONDO:0001704 True vaginal adenocarcinoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020653 MONDO:0004970 True vaginal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020653 MONDO:0015867 True vaginal adenocarcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020654 MONDO:0040679 True renal pelvis/ureter urothelial carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020656 MONDO:0018352 True human papillomavirus-related penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020656 MONDO:0020657 True human papillomavirus-related penile squamous cell carcinoma human papillomavirus-related squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020657 MONDO:0005096 True human papillomavirus-related squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020658 MONDO:0004030 True infiltrating ureter transitional cell carcinoma ureter transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020660 MONDO:0002631 True osteoblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020661 MONDO:0018078 True undifferentiated round cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020662 MONDO:0016093 True borderline ovarian serous tumor borderline epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020662 MONDO:0037255 True borderline ovarian serous tumor ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020663 MONDO:0020664 True malignant spindle cell neoplasm spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020664 MONDO:0005070 True spindle cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020665 MONDO:0004992 True high grade malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020667 MONDO:0008803 True Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020669 MONDO:0005289 True paranasal sinus cancer paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020690 MONDO:0004320 True adult glioblastoma adult infiltrating astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020690 MONDO:0018177 True adult glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020693 MONDO:0002412 True glycogen storage disease due to liver phosphorylase kinase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020694 MONDO:0000521 True salivary gland epithelial myoepithelial carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020694 MONDO:0003389 True salivary gland epithelial myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020697 MONDO:0003389 True lung epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020697 MONDO:0005138 True lung epithelial-myoepithelial carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020712 MONDO:0010765 True 46,XY sex reversal 1 46,XY complete gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020713 MONDO:0009937 True pulmonary venoocclusive disease 1 pulmonary venoocclusive disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020716 MONDO:0010132 True familial thyroid dyshormonogenesis 1 familial thyroid dyshormonogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020717 MONDO:0003847 True autosomal dominant wooly hair hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020717 MONDO:0008686 True autosomal dominant wooly hair isolated familial wooly hair disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020721 MONDO:0000425 True X-linked sideroblastic anemia 1 X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020721 MONDO:0017754 True X-linked sideroblastic anemia 1 inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020721 MONDO:0020099 True X-linked sideroblastic anemia 1 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020724 MONDO:0031037 True cerebral cavernous malformation 1 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020726 MONDO:0000608 True tubulointerstitial kidney disease, autosomal dominant, 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020726 MONDO:0008264 True tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020730 MONDO:0007275 True carpal tunnel syndrome 1 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020735 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020737 MONDO:0043878 True optic atrophy 10 with or without ataxia, intellectual disability, and seizures hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020738 MONDO:0007990 True multiple benign circumferential skin creases on limbs 1 multiple benign circumferential skin creases on limbs SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020739 MONDO:0000212 True hypercalcemia, infantile, 1 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020740 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 1 ectodermal dysplasia and immune deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020746 MONDO:0020937 True contractures, pterygia, and variable skeletal fusions syndrome 1B contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020747 MONDO:0008863 True sitosterolemia 1 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020748 MONDO:0008863 True sitosterolemia 2 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020749 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020750 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020751 MONDO:0021272 True orthostatic hypotension 2 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020756 MONDO:0000700 True migraine, familial hemiplegic, 1 familial hemiplegic migraine SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020760 MONDO:0002529 True skin squamous cell carcinoma in situ skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020760 MONDO:0004641 True skin squamous cell carcinoma in situ skin carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020760 MONDO:0004693 True skin squamous cell carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020761 MONDO:0020760 True Bowen disease of the skin skin squamous cell carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020762 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia syndrome 2 diencephalic-mesencephalic junction dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020763 MONDO:0020774 True Menke-Hennekam syndrome 1 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020765 MONDO:0033352 True neuropathy, congenital hypomyelinating, 2 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020766 MONDO:0033352 True neuropathy, congenital hypomyelinating, 3 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020769 MONDO:0020774 True Menke-Hennekam syndrome 2 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020770 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020775 MONDO:0060720 True congenital disorder of glycosylation with defective fucosylation 1 congenital disorder of glycosylation with defective fucosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020777 MONDO:0060720 True congenital disorder of glycosylation with defective fucosylation 2 congenital disorder of glycosylation with defective fucosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020778 MONDO:0014980 True cone-rod dystrophy and hearing loss 1 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020780 MONDO:0014980 True cone-rod dystrophy and hearing loss 2 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020781 MONDO:0014960 True encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020783 MONDO:0012016 True capillary malformation-arteriovenous malformation 1 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020785 MONDO:0012016 True capillary malformation-arteriovenous malformation 2 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020787 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 1 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020788 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 2 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020789 MONDO:0009626 True pseudo-TORCH syndrome 1 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020790 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis 1 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020791 MONDO:0007379 True corneal dystrophy, Meesmann, 1 Meesmann corneal dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020793 MONDO:0025193 True oculopharyngodistal myopathy 1 oculopharyngodistal myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020794 MONDO:0005008 True colorectal medullary carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020795 MONDO:0008394 True Silver-Russell syndrome 5 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020796 MONDO:0008394 True Silver-Russell syndrome 1 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020798 MONDO:0016390 True hypoparathyroidism, familial isolated, 2 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020799 MONDO:0005626 True basal cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020801 MONDO:0002169 True rectal medullary carcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020801 MONDO:0020794 True rectal medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020804 MONDO:0004993 True basal cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020804 MONDO:0020799 True basal cell carcinoma basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020807 MONDO:0021657 True ovarian sertoli-stromal cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020808 MONDO:0002696 True testicular sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020808 MONDO:0003125 True testicular sertoli cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020809 MONDO:0002696 True benign sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020813 MONDO:0020808 True benign testicular sertoli cell tumor testicular sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020813 MONDO:0020809 True benign testicular sertoli cell tumor benign sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020813 MONDO:0021447 True benign testicular sertoli cell tumor benign neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020820 MONDO:0000426 True distal arthrogryposis type 2B1 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020820 MONDO:0011128 True distal arthrogryposis type 2B1 Sheldon-hall syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020831 MONDO:0015161 True congenital vertebral-cardiac-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020837 MONDO:0014769 True oocyte maturation defect 5 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020845 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020846 MONDO:0019502 True intellectual disability, autosomal recessive 64 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020848 MONDO:0020645 True osteopetrosis, autosomal dominant 3 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020849 MONDO:0021094 True immunodeficiency 57 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020850 MONDO:0019502 True intellectual disability, autosomal recessive 65 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020851 MONDO:0004983 True spermatogenic failure 30 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020852 MONDO:0004983 True spermatogenic failure 31 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020854 MONDO:0008323 True Liddle syndrome 2 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020855 MONDO:0004983 True spermatogenic failure 32 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020856 MONDO:0000159 True bone marrow failure syndrome 4 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020857 MONDO:0009299 True ovarian dysgenesis 7 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021001 MONDO:0006507 True hemochromatosis type 1 hereditary hemochromatosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021005 MONDO:0002254 True faciodigitogenital syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021009 MONDO:0000521 True salivary gland mucoepidermoid carcinoma salivary gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021010 MONDO:0006282 True skin lymphangiosarcoma lymphangiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021010 MONDO:0006414 True skin lymphangiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021013 MONDO:0018053 True trichothiodystrophy 4, nonphotosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021018 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) muscular dystrophy, limb-girdle, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021019 MONDO:0017304 True X-linked recessive ocular albinism ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021020 MONDO:0009044 True Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021022 MONDO:0017658 True hereditary hyperekplexia hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021022 MONDO:0019253 True hereditary hyperekplexia metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021023 MONDO:0019154 True complete androgen insensitivity syndrome androgen insensitivity syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021029 MONDO:0021026 True hereditary sebaceous gland anomaly hereditary epidermal appendage anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021035 MONDO:0008756 True alopecia-intellectual disability syndrome 1 alopecia - intellectual disability syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021038 MONDO:0005564 True Ewing sarcoma/peripheral primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021039 MONDO:0021038 True extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021040 MONDO:0002356 True pancreatic neoplasm pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021040 MONDO:0021223 True pancreatic neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021041 MONDO:0016238 True pleural solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021041 MONDO:0021065 True pleural solitary fibrous tumor pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021042 MONDO:0021193 True glioma neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021043 MONDO:0005070 True mixed neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021045 MONDO:0021043 True fibroepithelial neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021046 MONDO:0021045 True breast fibroepithelial neoplasm fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021046 MONDO:0021100 True breast fibroepithelial neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021047 MONDO:0005078 True breast phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021047 MONDO:0021046 True breast phyllodes tumor breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021048 MONDO:0003079 True benign mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021048 MONDO:0005165 True benign mastocytoma benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021049 MONDO:0002187 True vulvar neoplasm vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021049 MONDO:0021148 True vulvar neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021050 MONDO:0001433 True vaginal neoplasm vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021050 MONDO:0021148 True vaginal neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021052 MONDO:0000448 True parasympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021053 MONDO:0006239 True carotid body paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021053 MONDO:0021052 True carotid body paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021054 MONDO:0002129 True bone sarcoma bone cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021054 MONDO:0005089 True bone sarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021056 MONDO:0021055 True familial adenomatous polyposis 1 classic familial adenomatous polyposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021061 MONDO:0000426 True neurofibromatosis autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021063 MONDO:0005401 True malignant colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021063 MONDO:0005575 True malignant colon neoplasm colorectal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021064 MONDO:0006239 True jugulotympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021064 MONDO:0021052 True jugulotympanic paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021065 MONDO:0002037 True pleural neoplasm pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021066 MONDO:0002118 True urinary system neoplasm urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021066 MONDO:0005070 True urinary system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021067 MONDO:0018201 True mediastinal germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021067 MONDO:0021386 True mediastinal germ cell tumor neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021068 MONDO:0005558 True ovarian neoplasm ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021068 MONDO:0021148 True ovarian neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021069 MONDO:0002082 True malignant endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021069 MONDO:0004992 True malignant endocrine neoplasm cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021070 MONDO:0004667 True sublingual gland carcinoma sublingual gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021070 MONDO:0006284 True sublingual gland carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021071 MONDO:0004382 True laryngeal neoplasm laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021072 MONDO:0000448 True sympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021072 MONDO:0005626 True sympathetic paraganglioma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021075 MONDO:0005079 True neoplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021076 MONDO:0021040 True pancreatic exocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021077 MONDO:0005070 True cystic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021078 MONDO:0002363 True glandular papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021078 MONDO:0024276 True glandular papilloma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021079 MONDO:0005070 True childhood neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021080 MONDO:0005385 True blood vessel neoplasm vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021080 MONDO:0024296 True blood vessel neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021081 MONDO:0019956 True anti-NMDA receptor encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021083 MONDO:0007614 True congenital fibrosis of extraocular muscles type 1 congenital fibrosis of extraocular muscles SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021085 MONDO:0004298 True gastric neoplasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021085 MONDO:0021223 True gastric neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021086 MONDO:0002021 True gingival neoplasm gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021088 MONDO:0016642 True papillary meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021089 MONDO:0001406 True peripheral nervous system cancer peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021089 MONDO:0005872 True peripheral nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021090 MONDO:0003570 True lipid-rich breast carcinoma lipid-rich carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021091 MONDO:0002369 True papillary cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021091 MONDO:0006349 True papillary cystadenoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021092 MONDO:0002156 True fallopian tube neoplasm fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021092 MONDO:0021148 True fallopian tube neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021093 MONDO:0009032 True cranioectodermal dysplasia 1 cranioectodermal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021096 MONDO:0005626 True papillary epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021097 MONDO:0000620 True intraductal breast papilloma breast benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021097 MONDO:0002060 True intraductal breast papilloma intraductal papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021097 MONDO:0002061 True intraductal breast papilloma intraductal papillary breast neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021098 MONDO:0021096 True papillomatosis papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021099 MONDO:0021098 True intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021100 MONDO:0002657 True breast neoplasm breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021101 MONDO:0015066 True appendix L-cell glucagon-like peptide-producing neuroendocrine tumor neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021102 MONDO:0005078 True prostate phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021102 MONDO:0021259 True prostate phyllodes tumor prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021107 MONDO:0003406 True narcolepsy sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021109 MONDO:0003064 True inverted urothelial papilloma inverted transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021109 MONDO:0004041 True inverted urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021110 MONDO:0002381 True sweat gland adenoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021110 MONDO:0004972 True sweat gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021110 MONDO:0021634 True sweat gland adenoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021111 MONDO:0001926 True ureter neoplasm ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021111 MONDO:0021066 True ureter neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021112 MONDO:0003319 True scrotum cancer scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021113 MONDO:0005275 True respiratory failure lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021114 MONDO:0021049 True Bartholin gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021117 MONDO:0005275 True lung neoplasm lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021117 MONDO:0020641 True lung neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021117 MONDO:0021350 True lung neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021118 MONDO:0005020 True intestinal neoplasm intestinal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021118 MONDO:0021223 True intestinal neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021119 MONDO:0002082 True non-functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021120 MONDO:0002082 True functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021121 MONDO:0021080 True hemangioendothelioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021123 MONDO:0019060 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021123 MONDO:0021038 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021129 MONDO:0005328 True microphthalmia eye disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021138 MONDO:0005374 True bone marrow cancer bone marrow neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021143 MONDO:0005070 True melanocytic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021144 MONDO:0002229 True ovarian clear cell tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021148 MONDO:0002263 True female reproductive system neoplasm female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021148 MONDO:0006054 True female reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021162 MONDO:0006504 True carotenemia acquired metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021163 MONDO:0005240 True kidney neoplasm kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021163 MONDO:0021066 True kidney neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021165 MONDO:0004970 True Paget disease adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021167 MONDO:0005336 True myositis disease myopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021168 MONDO:0005106 True hibernoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021169 MONDO:0006500 True epithelioid hemangioma hemangioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021172 MONDO:0010979 True Timothy syndrome, atypical type Timothy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021176 MONDO:0016264 True autoimmune hepatitis type 2 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021187 MONDO:0005066 True hyperlipidemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0021192 MONDO:0005586 True odontogenic neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021192 MONDO:0006999 True odontogenic neoplasm tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021193 MONDO:0021248 True neuroepithelial neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021209 MONDO:0005267 True heart neoplasm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021209 MONDO:0021350 True heart neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021209 MONDO:0024757 True heart neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021210 MONDO:0002567 True trachea neoplasm tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021210 MONDO:0020641 True trachea neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021211 MONDO:0005560 True brain neoplasm brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021211 MONDO:0006130 True brain neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021218 MONDO:0005917 True placenta neoplasm placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021220 MONDO:0005328 True eye neoplasm eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021221 MONDO:0001563 True vestibulocochlear nerve neoplasm vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021221 MONDO:0002633 True vestibulocochlear nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021222 MONDO:0021220 True lacrimal gland neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021223 MONDO:0005070 True digestive system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021224 MONDO:0002289 True iris neoplasm iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021224 MONDO:0021225 True iris neoplasm uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021225 MONDO:0002661 True uvea neoplasm uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021225 MONDO:0021220 True uvea neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021227 MONDO:0005495 True adrenal gland neoplasm adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021228 MONDO:0021211 True brainstem neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021229 MONDO:0002970 True ciliary body neoplasm ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021230 MONDO:0002256 True uterine cervix neoplasm cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021230 MONDO:0021353 True uterine cervix neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021231 MONDO:0005283 True retina neoplasm retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021231 MONDO:0021220 True retina neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021232 MONDO:0021211 True pineal body neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021233 MONDO:0005586 True ear neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021233 MONDO:0021205 True ear neoplasm disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021234 MONDO:0002545 True spinal cord neoplasm spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021234 MONDO:0006130 True spinal cord neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021235 MONDO:0002776 True external ear neoplasm external ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021235 MONDO:0021233 True external ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021237 MONDO:0021227 True adrenal medulla neoplasm adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021238 MONDO:0000942 True cornea neoplasm corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021238 MONDO:0021220 True cornea neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021239 MONDO:0004184 True urethra neoplasm urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021239 MONDO:0021066 True urethra neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021240 MONDO:0001165 True tongue neoplasm tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021240 MONDO:0005586 True tongue neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021241 MONDO:0005586 True buccal mucosa neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021242 MONDO:0021368 True sublingual gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021243 MONDO:0021368 True parotid gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021244 MONDO:0021368 True submandibular gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021245 MONDO:0006858 True oral cavity neoplasm mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021248 MONDO:0005070 True nervous system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021248 MONDO:0005071 True nervous system neoplasm nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021249 MONDO:0004748 True lip neoplasm lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021249 MONDO:0005586 True lip neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021250 MONDO:0005586 True tonsil neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021251 MONDO:0000931 True endometrium neoplasm endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021251 MONDO:0021353 True endometrium neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021253 MONDO:0002514 True gallbladder neoplasm hepatobiliary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021253 MONDO:0005281 True gallbladder neoplasm gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021254 MONDO:0021353 True corpus uteri neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021258 MONDO:0001898 True choroid neoplasm optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021258 MONDO:0021225 True choroid neoplasm uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021259 MONDO:0003105 True prostate neoplasm prostate disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021259 MONDO:0006054 True prostate neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021271 MONDO:0000502 True villous adenoma of colon villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021271 MONDO:0000527 True villous adenoma of colon colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021273 MONDO:0001572 True leiomyoma of ciliary body leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021273 MONDO:0021486 True leiomyoma of ciliary body benign neoplasm of ciliary body UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021275 MONDO:0021605 True papilloma of eyelid benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021276 MONDO:0002363 True papilloma of buccal mucosa papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021276 MONDO:0021524 True papilloma of buccal mucosa benign neoplasm of buccal mucosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021279 MONDO:0004724 True mucoepidermoid carcinoma of submandibular gland submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021279 MONDO:0006286 True mucoepidermoid carcinoma of submandibular gland major salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021280 MONDO:0006286 True mucoepidermoid carcinoma of parotid gland major salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021280 MONDO:0021331 True mucoepidermoid carcinoma of parotid gland carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021283 MONDO:0003518 True malignant teratoma of mediastinum mediastinum teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021284 MONDO:0004647 True carcinoma in situ of ureter in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021284 MONDO:0006481 True carcinoma in situ of ureter ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021285 MONDO:0004647 True carcinoma in situ of urethra in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021285 MONDO:0021327 True carcinoma in situ of urethra carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021287 MONDO:0004473 True carcinoma in situ of epiglottis epiglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021287 MONDO:0004696 True carcinoma in situ of epiglottis larynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021288 MONDO:0000372 True carcinoma in situ of hypopharynx pharynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021288 MONDO:0005216 True carcinoma in situ of hypopharynx hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021289 MONDO:0004663 True carcinoma in situ of cecum colon carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021289 MONDO:0006029 True carcinoma in situ of cecum cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021290 MONDO:0003196 True carcinoma in situ of appendix appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021291 MONDO:0003970 True carcinoma in situ of fundus of stomach gastric fundus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021291 MONDO:0004716 True carcinoma in situ of fundus of stomach stomach carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021292 MONDO:0003972 True carcinoma in situ of gastric body gastric body carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021292 MONDO:0004716 True carcinoma in situ of gastric body stomach carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021294 MONDO:0003834 True carcinoma in situ of gastric cardia gastric cardia carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021294 MONDO:0004716 True carcinoma in situ of gastric cardia stomach carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021296 MONDO:0005519 True carcinoma in situ of renal pelvis renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021297 MONDO:0000372 True carcinoma in situ of nasopharynx pharynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021297 MONDO:0015459 True carcinoma in situ of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021298 MONDO:0000372 True carcinoma in situ of oropharynx pharynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021298 MONDO:0044926 True carcinoma in situ of oropharynx oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021300 MONDO:0004971 True adenoid cystic carcinoma of oropharynx adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021300 MONDO:0044926 True adenoid cystic carcinoma of oropharynx oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021301 MONDO:0002482 True adenoma of nipple nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021303 MONDO:0004251 True adenoma of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021303 MONDO:0006180 True adenoma of small intestine digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021309 MONDO:0002974 True malignant neoplasm of endocervix cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021310 MONDO:0005627 True malignant tumor of neck head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021310 MONDO:0021351 True malignant tumor of neck neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021311 MONDO:0021360 True malignant tumor of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021312 MONDO:0002817 True malignant tumor of adrenal cortex adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021312 MONDO:0036591 True malignant tumor of adrenal cortex adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021313 MONDO:0002235 True eyelid cancer eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021313 MONDO:0002236 True eyelid cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021315 MONDO:0005375 True malignant tumor of nasopharynx nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021315 MONDO:0005517 True malignant tumor of nasopharynx pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021316 MONDO:0004669 True malignant tumor of minor salivary gland salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021316 MONDO:0021370 True malignant tumor of minor salivary gland neoplasm of minor salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021317 MONDO:0001657 True cancer of cerebellum brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021317 MONDO:0002913 True cancer of cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021320 MONDO:0005627 True malignant tumor of floor of mouth head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021320 MONDO:0021383 True malignant tumor of floor of mouth neoplasm of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021321 MONDO:0021385 True malignant tumor of extrahepatic bile duct extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021322 MONDO:0002714 True malignant tumor of meninges central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021322 MONDO:0016743 True malignant tumor of meninges tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021323 MONDO:0003274 True malignant neoplasm of chest wall thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021323 MONDO:0021388 True malignant neoplasm of chest wall neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021324 MONDO:0007576 True malignant neoplasm of abdominal esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021325 MONDO:0007576 True malignant neoplasm of thoracic esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021326 MONDO:0007576 True malignant neoplasm of cervical esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021327 MONDO:0004192 True carcinoma of urethra urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021327 MONDO:0004993 True carcinoma of urethra carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021329 MONDO:0004611 True carcinoma of soft palate soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021329 MONDO:0044925 True carcinoma of soft palate oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021329 MONDO:0044926 True carcinoma of soft palate oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021331 MONDO:0004700 True carcinoma of parotid gland parotid gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021331 MONDO:0006284 True carcinoma of parotid gland major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021333 MONDO:0006834 True carcinoma of lip lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021335 MONDO:0000920 True carcinoma of duodenum duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021335 MONDO:0005522 True carcinoma of duodenum small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021337 MONDO:0006998 True tonsil carcinoma tonsil cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021337 MONDO:0044926 True tonsil carcinoma oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021339 MONDO:0004719 True carcinoma of hard palate hard palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021339 MONDO:0044925 True carcinoma of hard palate oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021343 MONDO:0002038 True carcinoma of floor of mouth head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021343 MONDO:0021320 True carcinoma of floor of mouth malignant tumor of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021345 MONDO:0021246 True carcinoma of pharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021348 MONDO:0002329 True neoplasm of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021348 MONDO:0024582 True neoplasm of testis male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021350 MONDO:0005070 True neoplasm of thorax neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021351 MONDO:0005586 True neoplasm of neck head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021353 MONDO:0002654 True tumor of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021353 MONDO:0021148 True tumor of uterus female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021354 MONDO:0002616 True tumor of adipose tissue mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021355 MONDO:0003749 True neoplasm of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021355 MONDO:0021223 True neoplasm of esophagus digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021357 MONDO:0001142 True tumor of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021357 MONDO:0005586 True tumor of salivary gland head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021358 MONDO:0005586 True neoplasm of hypopharynx head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021358 MONDO:0020592 True neoplasm of hypopharynx disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021358 MONDO:0021246 True neoplasm of hypopharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021360 MONDO:0001223 True tumor of parathyroid gland parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021364 MONDO:0005586 True neoplasm of oropharynx head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021364 MONDO:0020592 True neoplasm of oropharynx disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021364 MONDO:0021246 True neoplasm of oropharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021366 MONDO:0003276 True neoplasm of middle ear middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021366 MONDO:0021233 True neoplasm of middle ear ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021368 MONDO:0021357 True neoplasm of major salivary gland tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021370 MONDO:0021357 True neoplasm of minor salivary gland tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021372 MONDO:0021374 True neoplasm of temporal lobe neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021373 MONDO:0021374 True neoplasm of parietal lobe neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021374 MONDO:0021211 True neoplasm of cerebral hemisphere brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021375 MONDO:0004251 True tumor of duodenum small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021378 MONDO:0021209 True neoplasm of endocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021379 MONDO:0021209 True neoplasm of epicardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021380 MONDO:0021209 True neoplasm of myocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021381 MONDO:0021350 True neoplasm of pericardium neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021381 MONDO:0024757 True neoplasm of pericardium cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021383 MONDO:0005586 True neoplasm of floor of mouth head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021383 MONDO:0006858 True neoplasm of floor of mouth mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021385 MONDO:0021662 True extrahepatic bile duct neoplasm bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021386 MONDO:0021350 True neoplasm of mediastinum neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021388 MONDO:0021350 True neoplasm of chest wall neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021389 MONDO:0021052 True neoplasm of aortic body parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021390 MONDO:0005079 True polyp of ureter polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021390 MONDO:0021111 True polyp of ureter ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021394 MONDO:0005079 True polyp of vagina polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0021396 MONDO:0005079 True polyp of vulva polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0021402 MONDO:0005079 True polyp of external auditory canal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021402 MONDO:0021235 True polyp of external auditory canal external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021424 MONDO:0005094 True hemangiopericytoma of skin hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021427 MONDO:0021333 True squamous cell carcinoma of lip carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021429 MONDO:0004958 True squamous cell carcinoma of floor of mouth oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021429 MONDO:0021343 True squamous cell carcinoma of floor of mouth carcinoma of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021431 MONDO:0004645 True squamous cell carcinoma of buccal mucosa cheek mucosa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021431 MONDO:0004958 True squamous cell carcinoma of buccal mucosa oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021437 MONDO:0005106 True lipoma of stomach lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021437 MONDO:0021449 True lipoma of stomach benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021439 MONDO:0000627 True benign neoplasm of pituitary gland benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021439 MONDO:0017611 True benign neoplasm of pituitary gland pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021439 MONDO:0021451 True benign neoplasm of pituitary gland benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021440 MONDO:0002531 True benign neoplasm of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021441 MONDO:0021076 True benign neoplasm of exocrine pancreas pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021441 MONDO:0021470 True benign neoplasm of exocrine pancreas benign neoplasm of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021443 MONDO:0000630 True benign neoplasm of lymph node immune system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021443 MONDO:0024339 True benign neoplasm of lymph node lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021444 MONDO:0003062 True benign neoplasm of large intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021445 MONDO:0005165 True benign neoplasm of oral cavity benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021445 MONDO:0021245 True benign neoplasm of oral cavity oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021446 MONDO:0002354 True benign neoplasm of epiglottis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021446 MONDO:0004109 True benign neoplasm of epiglottis epiglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021447 MONDO:0000625 True benign neoplasm of testis benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021447 MONDO:0021348 True benign neoplasm of testis neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021449 MONDO:0000385 True benign neoplasm of stomach benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021449 MONDO:0021085 True benign neoplasm of stomach gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021450 MONDO:0000634 True benign neoplasm of heart thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021450 MONDO:0021209 True benign neoplasm of heart heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021451 MONDO:0021211 True benign neoplasm of brain brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021452 MONDO:0021238 True benign neoplasm of cornea cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021452 MONDO:0021454 True benign neoplasm of cornea benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021453 MONDO:0021231 True benign neoplasm of retina retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021453 MONDO:0021454 True benign neoplasm of retina benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021454 MONDO:0021220 True benign neoplasm of eye eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021455 MONDO:0005165 True benign neoplasm of neck benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021455 MONDO:0021351 True benign neoplasm of neck neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021456 MONDO:0000634 True benign neoplasm of sternum thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021456 MONDO:0021578 True benign neoplasm of sternum sternal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021457 MONDO:0021065 True benign neoplasm of pleura pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021458 MONDO:0000625 True benign neoplasm of penis benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021458 MONDO:0006895 True benign neoplasm of penis penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021459 MONDO:0000385 True benign neoplasm of esophagus benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021459 MONDO:0021355 True benign neoplasm of esophagus neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021460 MONDO:0005165 True benign neoplasm of salivary gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021460 MONDO:0021357 True benign neoplasm of salivary gland tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021461 MONDO:0021358 True benign neoplasm of hypopharynx neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021461 MONDO:0021523 True benign neoplasm of hypopharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021462 MONDO:0002165 True benign neoplasm of rectum rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021462 MONDO:0021444 True benign neoplasm of rectum benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021463 MONDO:0000627 True benign neoplasm of parathyroid gland benign endocrine neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021463 MONDO:0021360 True benign neoplasm of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021464 MONDO:0002278 True benign neoplasm of cecum benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021464 MONDO:0005694 True benign neoplasm of cecum cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021465 MONDO:0001236 True benign neoplasm of appendix appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021467 MONDO:0002513 True benign neoplasm of renal pelvis kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021467 MONDO:0003719 True benign neoplasm of renal pelvis renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021468 MONDO:0021237 True benign neoplasm of adrenal medulla adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021468 MONDO:0021511 True benign neoplasm of adrenal medulla benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021469 MONDO:0003046 True benign neoplasm of anus anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021470 MONDO:0000385 True benign neoplasm of pancreas benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021470 MONDO:0021040 True benign neoplasm of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021471 MONDO:0000632 True benign neoplasm of endometrium uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021471 MONDO:0021251 True benign neoplasm of endometrium endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021472 MONDO:0003319 True benign neoplasm of scrotum scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021473 MONDO:0000625 True benign neoplasm of epididymis benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021473 MONDO:0003283 True benign neoplasm of epididymis epididymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021474 MONDO:0021233 True benign neoplasm of ear ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021475 MONDO:0004756 True benign neoplasm of nasal cavity nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021476 MONDO:0021240 True benign neoplasm of tongue tongue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021477 MONDO:0004047 True benign neoplasm of sphenoidal sinus sphenoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021478 MONDO:0005375 True benign neoplasm of nasopharynx nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021478 MONDO:0021523 True benign neoplasm of nasopharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021479 MONDO:0021364 True benign neoplasm of oropharynx neoplasm of oropharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021479 MONDO:0021523 True benign neoplasm of oropharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021480 MONDO:0005286 True benign neoplasm of soft palate palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021481 MONDO:0021244 True benign neoplasm of submandibular gland submandibular gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021481 MONDO:0021492 True benign neoplasm of submandibular gland benign neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021482 MONDO:0021366 True benign neoplasm of middle ear neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021482 MONDO:0021474 True benign neoplasm of middle ear benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021483 MONDO:0001757 True benign neoplasm of frontal sinus frontal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021484 MONDO:0006850 True benign neoplasm of maxillary sinus maxillary sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021485 MONDO:0021224 True benign neoplasm of iris iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021485 MONDO:0021454 True benign neoplasm of iris benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021486 MONDO:0021229 True benign neoplasm of ciliary body ciliary body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021487 MONDO:0021258 True benign neoplasm of choroid choroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021487 MONDO:0021454 True benign neoplasm of choroid benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021488 MONDO:0021222 True benign neoplasm of lacrimal gland lacrimal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021488 MONDO:0021454 True benign neoplasm of lacrimal gland benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021489 MONDO:0002381 True benign neoplasm of sweat gland sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021489 MONDO:0021440 True benign neoplasm of sweat gland benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021490 MONDO:0006963 True benign neoplasm of sebaceous gland sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021490 MONDO:0021440 True benign neoplasm of sebaceous gland benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021491 MONDO:0021086 True benign neoplasm of gum gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021492 MONDO:0021368 True benign neoplasm of major salivary gland neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021492 MONDO:0021460 True benign neoplasm of major salivary gland benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021493 MONDO:0021370 True benign neoplasm of minor salivary gland neoplasm of minor salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021493 MONDO:0021460 True benign neoplasm of minor salivary gland benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021494 MONDO:0021243 True benign neoplasm of parotid gland parotid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021494 MONDO:0021492 True benign neoplasm of parotid gland benign neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021495 MONDO:0021242 True benign neoplasm of sublingual gland sublingual gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021495 MONDO:0021492 True benign neoplasm of sublingual gland benign neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021496 MONDO:0005165 True benign neoplasm of lip benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0021496 MONDO:0021249 True benign neoplasm of lip lip neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021497 MONDO:0021451 True benign neoplasm of cerebrum benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021498 MONDO:0021218 True benign neoplasm of placenta placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021499 MONDO:0002913 True benign neoplasm of cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021499 MONDO:0021451 True benign neoplasm of cerebellum benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021500 MONDO:0036696 True benign neoplasm of spleen spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021501 MONDO:0003062 True benign neoplasm of small intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021501 MONDO:0004251 True benign neoplasm of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021503 MONDO:0000385 True benign neoplasm of gallbladder benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021503 MONDO:0021253 True benign neoplasm of gallbladder gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021505 MONDO:0021378 True benign neoplasm of endocardium neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021505 MONDO:0021450 True benign neoplasm of endocardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021506 MONDO:0021234 True benign neoplasm of spinal cord spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021507 MONDO:0021228 True benign neoplasm of brain stem brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021507 MONDO:0021451 True benign neoplasm of brain stem benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021508 MONDO:0021379 True benign neoplasm of epicardium neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021508 MONDO:0021450 True benign neoplasm of epicardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021509 MONDO:0021380 True benign neoplasm of myocardium neoplasm of myocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021509 MONDO:0021450 True benign neoplasm of myocardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021510 MONDO:0000625 True benign neoplasm of prostate benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021510 MONDO:0021259 True benign neoplasm of prostate prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021511 MONDO:0021227 True benign neoplasm of adrenal gland adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021512 MONDO:0005197 True benign neoplasm of thymus thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021513 MONDO:0021250 True benign neoplasm of tonsil tonsil neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021514 MONDO:0000634 True benign neoplasm of pericardium thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021514 MONDO:0021381 True benign neoplasm of pericardium neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021515 MONDO:0001764 True benign neoplasm of ethmoidal sinus ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021516 MONDO:0002353 True benign neoplasm of glottis glottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021516 MONDO:0002354 True benign neoplasm of glottis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021517 MONDO:0021210 True benign neoplasm of trachea trachea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021518 MONDO:0005286 True benign neoplasm of hard palate palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021518 MONDO:0021445 True benign neoplasm of hard palate benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021520 MONDO:0005165 True benign neoplasm of floor of mouth benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0021520 MONDO:0021383 True benign neoplasm of floor of mouth neoplasm of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021521 MONDO:0000634 True benign neoplasm of mediastinum thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021521 MONDO:0021386 True benign neoplasm of mediastinum neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021522 MONDO:0000631 True benign neoplasm of lower jaw bone bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021523 MONDO:0005165 True benign neoplasm of pharynx benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021523 MONDO:0021246 True benign neoplasm of pharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021524 MONDO:0005165 True benign neoplasm of buccal mucosa benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021524 MONDO:0021241 True benign neoplasm of buccal mucosa buccal mucosa neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021525 MONDO:0000632 True benign neoplasm of corpus uteri uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021525 MONDO:0021254 True benign neoplasm of corpus uteri corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021527 MONDO:0016743 True benign neoplasm of meninges tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021528 MONDO:0000620 True benign neoplasm of male breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021529 MONDO:0000634 True benign neoplasm of chest wall thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021529 MONDO:0021388 True benign neoplasm of chest wall neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021530 MONDO:0000933 True benign neoplasm of subglottis subglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021530 MONDO:0002354 True benign neoplasm of subglottis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021531 MONDO:0005167 True fibroma of lung fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021531 MONDO:0021117 True fibroma of lung lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021532 MONDO:0005167 True fibroma of prostate fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021532 MONDO:0021510 True fibroma of prostate benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021533 MONDO:0000386 True intestinal neuroendocrine tumor G1 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021533 MONDO:0002883 True intestinal neuroendocrine tumor G1 intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021533 MONDO:0005369 True intestinal neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021534 MONDO:0006162 True rectal neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021534 MONDO:0015068 True rectal neuroendocrine tumor G1 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021535 MONDO:0005369 True pancreatic neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021535 MONDO:0019954 True pancreatic neuroendocrine tumor G1 pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021537 MONDO:0015459 True undifferentiated carcinoma of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021538 MONDO:0004958 True verrucous carcinoma of oral cavity oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021538 MONDO:0006006 True verrucous carcinoma of oral cavity verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021540 MONDO:0021117 True hamartoma of lung lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021542 MONDO:0006500 True hemangioma of choroid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021542 MONDO:0021487 True hemangioma of choroid benign neoplasm of choroid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021543 MONDO:0006500 True hemangioma of gingiva hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021543 MONDO:0021491 True hemangioma of gingiva benign neoplasm of gum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021545 MONDO:0002616 True myomatous neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021547 MONDO:0019507 True amelogenesis imperfecta type 3B amelogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021548 MONDO:0011060 True total early-onset cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021553 MONDO:0002565 True transverse myelitis myelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021571 MONDO:0007462 True multiple sclerosis, susceptibility to 1 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021573 MONDO:0014769 True oocyte maturation defect 2 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021574 MONDO:0014769 True oocyte maturation defect 3 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021575 MONDO:0014769 True oocyte maturation defect 4 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021576 MONDO:0021092 True fallopian tube endometrioid tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021578 MONDO:0021350 True sternal neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021583 MONDO:0002531 True melanocytic skin neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021583 MONDO:0021143 True melanocytic skin neoplasm melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021588 MONDO:0003876 True eyelid sebaceous gland carcinoma eyelid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021588 MONDO:0006327 True eyelid sebaceous gland carcinoma ocular sebaceous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021605 MONDO:0002235 True benign eyelid neoplasm eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021605 MONDO:0021454 True benign eyelid neoplasm benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021607 MONDO:0003382 True eyelid seborrheic keratosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021607 MONDO:0008420 True eyelid seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021627 MONDO:0002407 True eyelid capillary hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021627 MONDO:0021605 True eyelid capillary hemangioma benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021631 MONDO:0019781 True brain astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021631 MONDO:0021632 True brain astrocytoma primary brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021632 MONDO:0021211 True primary brain neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021633 MONDO:0021631 True cerebral astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021634 MONDO:0002531 True epithelial skin neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021634 MONDO:0005626 True epithelial skin neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021636 MONDO:0021042 True astrocytic tumor glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021637 MONDO:0021042 True low grade glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021638 MONDO:0021636 True low grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021638 MONDO:0021637 True low grade astrocytic tumor low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021639 MONDO:0021637 True grade II glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021640 MONDO:0100342 True grade III glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021644 MONDO:0001221 True esophageal varices without bleeding esophageal varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0021645 MONDO:0001221 True esophageal varices with bleeding esophageal varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0021650 MONDO:0019496 True uterine corpus neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021650 MONDO:0021254 True uterine corpus neuroendocrine neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021652 MONDO:0004970 True diffuse type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021656 MONDO:0005040 True nongerminomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021657 MONDO:0006055 True ovarian sex cord-stromal tumor sex cord-stromal tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021657 MONDO:0021068 True ovarian sex cord-stromal tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021659 MONDO:0004993 True combined carcinoid and adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021662 MONDO:0002887 True bile duct neoplasm bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021663 MONDO:0005096 True sarcomatoid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021663 MONDO:0006406 True sarcomatoid squamous cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021681 MONDO:0005550 True sexually transmitted disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0021812 MONDO:0021489 True adnexal spiradenoma/cylindroma of a sweat gland benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021879 MONDO:0020325 True small cell variant anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022057 MONDO:0021192 True calcifying epithelial odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022171 MONDO:0024467 True chromhidrosis apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0022173 MONDO:0016932 True chromosome 11q trisomy partial duplication of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022174 MONDO:0017277 True chromosome 12p deletion partial deletion of chromosome 12 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022410 MONDO:0005308 True retinal ciliopathy ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022519 MONDO:0004496 True autoimmune myocarditis myocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022529 MONDO:0005784 True BK-virus nephropathy hantavirus hemorrhagic fever with renal syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022578 MONDO:0004986 True childhood bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022642 MONDO:0005369 True childhood carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022642 MONDO:0021079 True childhood carcinoid tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022697 MONDO:0006497 True athetoid cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0022742 MONDO:0004979 True occupational asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022754 MONDO:0016879 True chromosome 17p deletion partial deletion of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022756 MONDO:0016866 True chromosome 1q deletion partial deletion of chromosome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022762 MONDO:0016869 True chromosome 4 short arm deletion partial deletion of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022772 MONDO:0005055 True classic Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022963 MONDO:0016729 True desmoplastic infantile astrocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022965 MONDO:0016729 True desmoplastic infantile ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022993 MONDO:0004782 True dipsogenic diabetes insipidus diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023069 MONDO:0002467 True enlarged vestibular aqueduct syndrome inner ear disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023122 MONDO:0005159 True familial prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023188 MONDO:0018381 True Freiberg disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023206 MONDO:0019954 True functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023206 MONDO:0021120 True functional pancreatic neuroendocrine tumor functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023227 MONDO:0004782 True gestational diabetes insipidus diabetes insipidus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023273 MONDO:0011934 True pigmented dermatofibrosarcoma protuberans dermatofibrosarcoma protuberans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023283 MONDO:0006036 True ovarian granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023283 MONDO:0021657 True ovarian granulosa cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023297 MONDO:0005083 True guttate psoriasis psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0023597 MONDO:0018955 True laryngeal papillomatosis recurrent respiratory papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023619 MONDO:0005012 True lentigo maligna melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023644 MONDO:0002038 True lip and oral cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023655 MONDO:0021094 True immunodeficiency 14b, autosomal recessive immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023657 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 65 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023659 MONDO:0100062 True developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023660 MONDO:0019623 True angioedema, hereditary, 6 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023662 MONDO:0019313 True lymphatic malformation 10 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023664 MONDO:0004983 True spermatogenic failure 54 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023670 MONDO:0015229 True Bardet-Biedl syndrome 20 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023671 MONDO:0025193 True oculopharyngodistal myopathy 3 oculopharyngodistal myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023682 MONDO:0006239 True tympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023726 MONDO:0005744 True mediastinal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023726 MONDO:0006298 True mediastinal yolk sac tumor mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024182 MONDO:0006676 True dry beriberi beriberi SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024183 MONDO:0006676 True wet beriberi beriberi SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024227 MONDO:0006580 True miliaria pustulosa miliaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024228 MONDO:0006580 True miliaria profunda miliaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024229 MONDO:0006580 True miliaria crystallina miliaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024235 MONDO:0037254 True Brenner tumor transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024240 MONDO:0005506 True eccrine carcinoma eccrine sweat gland cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024240 MONDO:0005524 True eccrine carcinoma sweat gland carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024245 MONDO:0024240 True ductal eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024246 MONDO:0021110 True syringofibroadenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024246 MONDO:0024247 True syringofibroadenoma benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024246 MONDO:0024666 True syringofibroadenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024247 MONDO:0002090 True benign eccrine neoplasm eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024247 MONDO:0021489 True benign eccrine neoplasm benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024252 MONDO:0015653 True global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024257 MONDO:0020128 True hereditary motor neuron disease motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024264 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024265 MONDO:0007473 True Duane syndrome type 1 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024266 MONDO:0011827 True patent ductus arteriosus 3 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024276 MONDO:0005626 True glandular cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024282 MONDO:0003756 True mucinous ovarian cancer ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024282 MONDO:0018364 True mucinous ovarian cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024286 MONDO:0000629 True benign blood vessel neoplasm cardiovascular organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024286 MONDO:0021080 True benign blood vessel neoplasm blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024296 MONDO:0024757 True vascular neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024301 MONDO:0006504 True acquired mineral metabolism disease acquired metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024303 MONDO:0002875 True external hirudiniasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024305 MONDO:0006504 True acquired hyperprolactinemia acquired metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024306 MONDO:0006504 True acquired lactic acidosis acquired metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024309 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2A hereditary sensory and autonomic neuropathy type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024312 MONDO:0024311 True cancer of short bone of upper limb cancer affecting bone of limb skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024320 MONDO:0002467 True inner ear neoplasm inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024320 MONDO:0021233 True inner ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024323 MONDO:0018327 True glomangiomyoma glomus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024326 MONDO:0003308 True pleural adenomatoid tumor pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024326 MONDO:0004230 True pleural adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024326 MONDO:0021457 True pleural adenomatoid tumor benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024331 MONDO:0005575 True colorectal carcinoma colorectal cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024331 MONDO:0006181 True colorectal carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024336 MONDO:0002198 True vulvar adenocarcinoma vulvar glandular neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024336 MONDO:0004970 True vulvar adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024336 MONDO:0005215 True vulvar adenocarcinoma vulvar carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024337 MONDO:0021066 True urothelial neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024337 MONDO:0037254 True urothelial neoplasm transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024338 MONDO:0024276 True mucinous neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024339 MONDO:0002334 True lymph node neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024339 MONDO:0004928 True lymph node neoplasm lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024340 MONDO:0005072 True retinal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024341 MONDO:0021231 True retinal cell neoplasm retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024361 MONDO:0003406 True circadian rhythm sleep disorder sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024377 MONDO:0024361 True circadian rhythm sleep disorder, delayed sleep phase type circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024378 MONDO:0024361 True circadian rhythm sleep disorder, advanced sleep phase type circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024379 MONDO:0024361 True circadian rhythm sleep disorder, irregular sleep wake type circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024381 MONDO:0024361 True circadian rhythm sleep disorder, jet lag type circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024382 MONDO:0024361 True circadian rhythm sleep disorder, shift work type circadian rhythm sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0024386 MONDO:0003050 True large cell lung carcinoma, clear cell variant lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024387 MONDO:0000646 True benign ovarian sex cord-stromal tumor ovarian benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024387 MONDO:0021657 True benign ovarian sex cord-stromal tumor ovarian sex cord-stromal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024387 MONDO:0024988 True benign ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024457 MONDO:0017998 True neurodegeneration with brain iron accumulation 2A PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024457 MONDO:0020127 True neurodegeneration with brain iron accumulation 2A hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024461 MONDO:0024286 True angiomatosis benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024463 MONDO:0009299 True ovarian dysgenesis 1 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024464 MONDO:0013099 True pituitary hormone deficiency, combined, 1 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024465 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 2 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024466 MONDO:0011090 True facial paresis, hereditary congenital, 1 isolated hereditary congenital facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024469 MONDO:0002616 True chondrogenic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024470 MONDO:0005165 True benign chondrogenic neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024470 MONDO:0024469 True benign chondrogenic neoplasm chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024474 MONDO:0005626 True intraepithelial neoplasia epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024474 MONDO:0021074 True intraepithelial neoplasia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024475 MONDO:0002532 True squamous cell intraepithelial neoplasia squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024475 MONDO:0024474 True squamous cell intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024477 MONDO:0002514 True liver and intrahepatic bile duct neoplasm hepatobiliary neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024477 MONDO:0005154 True liver and intrahepatic bile duct neoplasm liver disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024498 MONDO:0100242 True glioma susceptibility 1 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024499 MONDO:0019060 True vascular bone neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024499 MONDO:0024296 True vascular bone neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024501 MONDO:0001236 True appendix neuroendocrine neoplasm appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024502 MONDO:0021253 True gallbladder neuroendocrine neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024502 MONDO:0024503 True gallbladder neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024503 MONDO:0004335 True digestive system neuroendocrine neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024503 MONDO:0019496 True digestive system neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024503 MONDO:0021223 True digestive system neuroendocrine neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024506 MONDO:0007034 True Adams-Oliver syndrome 1 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024507 MONDO:0007119 True aniridia 1 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024517 MONDO:0008075 True schwannomatosis 1 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024519 MONDO:0018470 True renal hypodysplasia/aplasia 1 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024520 MONDO:0018470 True renal hypodysplasia/aplasia 3 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024521 MONDO:0007031 True aortic aneurysm, familial abdominal, 1 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024522 MONDO:0007101 True amyloidosis, primary localized cutaneous, 1 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024523 MONDO:0007194 True aortic valve disease 1 familial bicuspid aortic valve SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024524 MONDO:0000736 True dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024526 MONDO:0000200 True Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024527 MONDO:0007671 True glomerulopathy with fibronectin deposits 1 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024529 MONDO:0008004 True MVP1 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024530 MONDO:0008029 True Bethlem myopathy 1 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024531 MONDO:0008051 True myopathy, tubular aggregate, 1 tubular aggregate myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024532 MONDO:0008163 True otofaciocervical syndrome 1 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024533 MONDO:0017148 True pulmonary hypertension, primary, 1 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024535 MONDO:0008429 True Singleton-Merten syndrome 1 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024536 MONDO:0008733 True glucocorticoid deficiency 1 familial glucocorticoid deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024537 MONDO:0008891 True Brown-Vialetto-van Laere syndrome 1 riboflavin transporter deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024538 MONDO:0008947 True basal ganglia calcification, idiopathic, 1 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024539 MONDO:0008982 True choroidal dystrophy, central areolar, 1 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024540 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024542 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024543 MONDO:0009242 True brittle cornea syndrome 1 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024546 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024547 MONDO:0009832 True pancreatic agenesis 1 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024548 MONDO:0010033 True peeling skin syndrome 1 generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024549 MONDO:0000170 True microphthalmia with coloboma 1 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024550 MONDO:0015942 True frontometaphyseal dysplasia 1 frontometaphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024551 MONDO:0010627 True X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024552 MONDO:0010672 True linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024553 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024554 MONDO:0010924 True D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024555 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024556 MONDO:0020310 True epilepsy, familial focal, with variable foci 1 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024557 MONDO:0011457 True ataxia-telangiectasia-like disorder 1 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024558 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024559 MONDO:0019625 True aortic aneurysm, familial thoracic 1 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024560 MONDO:0011827 True PDA1 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024562 MONDO:0012061 True sick sinus syndrome 1 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024564 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 1 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024565 MONDO:0013311 True ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024566 MONDO:0000032 True febrile seizures, familial, 11 febrile seizures, familial SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024566 MONDO:0005071 True febrile seizures, familial, 11 nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024567 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 1 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile liver failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024582 MONDO:0003150 True male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024582 MONDO:0006054 True male reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024607 MONDO:0019950 True congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024608 MONDO:0002428 True dientamoebiasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024609 MONDO:0002195 True vulvar squamous cell carcinoma vulvar squamous neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024609 MONDO:0005215 True vulvar squamous cell carcinoma vulvar carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024615 MONDO:0005157 True T-cell and NK-cell neoplasm lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024621 MONDO:0005278 True serous cystadenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024621 MONDO:0005596 True serous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024622 MONDO:0004970 True thyroid gland adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024622 MONDO:0015075 True thyroid gland adenocarcinoma thyroid gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024637 MONDO:0004992 True malignant soft tissue neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024637 MONDO:0006424 True malignant soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024638 MONDO:0003525 True pancreatic gastrinoma pancreatic gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024638 MONDO:0023206 True pancreatic gastrinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024639 MONDO:0015062 True gastric enterochromaffin cell serotonin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024642 MONDO:0015062 True gastric neuroendocrine tumor G2 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024645 MONDO:0005070 True retroperitoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024647 MONDO:0002118 True urolithiasis urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024649 MONDO:0016167 True optic tract astrocytoma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024653 MONDO:0005586 True skull neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024653 MONDO:0024654 True skull neoplasm skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024656 MONDO:0004699 True colorectal lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024656 MONDO:0005575 True colorectal lymphoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024658 MONDO:0021321 True extrahepatic bile duct sarcoma malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024659 MONDO:0005055 True colorectal Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024659 MONDO:0005814 True colorectal Kaposi sarcoma intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024660 MONDO:0004972 True tubular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024661 MONDO:0004972 True tubulovillous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024662 MONDO:0005484 True colorectal tubulovillous adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024662 MONDO:0024661 True colorectal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024666 MONDO:0021440 True benign epithelial skin neoplasm benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024666 MONDO:0021634 True benign epithelial skin neoplasm epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024666 MONDO:0036976 True benign epithelial skin neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024673 MONDO:0002013 True skin lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024675 MONDO:0019004 True adult kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024676 MONDO:0019004 True childhood kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024676 MONDO:0036511 True childhood kidney Wilms tumor childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024677 MONDO:0005048 True pancreatic insulinoma pancreatic insulin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024677 MONDO:0023206 True pancreatic insulinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024685 MONDO:0004643 True Philadelphia-positive myelogenous leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024686 MONDO:0002400 True tenosynovial giant cell tumor, diffuse type synovitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024686 MONDO:0002522 True tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024686 MONDO:0024715 True tenosynovial giant cell tumor, diffuse type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024711 MONDO:0002367 True malignant mixed epithelial stromal tumor of the kidney kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024711 MONDO:0002386 True malignant mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024711 MONDO:0005853 True malignant mixed epithelial stromal tumor of the kidney malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024715 MONDO:0002528 True benign synovial neoplasm synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024715 MONDO:0044335 True benign synovial neoplasm benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024744 MONDO:0016717 True childhood choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024744 MONDO:0021079 True childhood choroid plexus neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024746 MONDO:0002601 True immature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024757 MONDO:0004995 True cardiovascular neoplasm cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024757 MONDO:0005070 True cardiovascular neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024770 MONDO:0031384 True autoinflammatory syndrome, familial, X-linked, Behcet-like 2 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024771 MONDO:0018949 True myopathy, distal, 7, adult-onset, X-linked distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024773 MONDO:0004983 True spermatogenic failure, X-linked, 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024777 MONDO:0021094 True immunodeficiency 98 with autoinflammation, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024781 MONDO:0021094 True immunodeficiency 102 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024797 MONDO:0021228 True adult brain stem neoplasm brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024813 MONDO:0021117 True pulmonary sulcus neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024857 MONDO:0024746 True immature extragonadal teratoma immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024861 MONDO:0015864 True mixed teratoma and seminoma mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024868 MONDO:0024879 True metastatic carcinoma in the adrenal medulla metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024873 MONDO:0002290 True clitoral carcinoma clitoris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024873 MONDO:0005215 True clitoral carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024878 MONDO:0004993 True secondary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024878 MONDO:0024881 True secondary carcinoma secondary malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024879 MONDO:0024878 True metastatic carcinoma secondary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024879 MONDO:0024880 True metastatic carcinoma metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024880 MONDO:0024881 True metastatic malignant neoplasm secondary malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024880 MONDO:0024883 True metastatic malignant neoplasm metastatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024881 MONDO:0004992 True secondary malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024881 MONDO:0024882 True secondary malignant neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024884 MONDO:0024879 True metastatic carcinoma in the bone metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024885 MONDO:0018364 True malignant ovarian serous tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024885 MONDO:0037255 True malignant ovarian serous tumor ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024886 MONDO:0006071 True serous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024890 MONDO:0021193 True pineal parenchymal cell neoplasm neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024890 MONDO:0021232 True pineal parenchymal cell neoplasm pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024892 MONDO:0019065 True soft tissue amyloid neoplasm amyloidosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024988 MONDO:0000383 True sex cord-stromal benign neoplasm benign reproductive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025193 MONDO:0016106 True oculopharyngodistal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025193 MONDO:0018949 True oculopharyngodistal myopathy distal myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025353 MONDO:0100062 True developmental and epileptic encephalopathy, 90 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025354 MONDO:0004983 True spermatogenic failure, X-linked, 3 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025514 MONDO:0018882 True livedoid vasculopathy vasculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025556 MONDO:0004784 True isocyanate induced asthma allergic asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025690 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 2 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025691 MONDO:0044807 True dystonia 30 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025699 MONDO:0015452 True Coffin-Siris syndrome 12 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025701 MONDO:0019046 True leukodystrophy, hypomyelinating, 22 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025708 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 2 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025712 MONDO:0019623 True angioedema, hereditary, 4 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025713 MONDO:0019623 True angioedema, hereditary, 7 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026720 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026721 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026722 MONDO:0003847 True Mullegama-Klein-Martinez syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026723 MONDO:0019181 True intellectual developmental disorder, X-linked 108 non-syndromic X-linked intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026724 MONDO:0020119 True Paganini-Miozzo syndrome X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026726 MONDO:0002350 True nephrotic syndrome, type 20 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026727 MONDO:0003847 True Shukla-Vernon syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026729 MONDO:0005500 True congenital disorder of glycosylation, type ICC congenital disorder of glycosylation type I SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026731 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 8 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026732 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 9 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026733 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026762 MONDO:0025445 True Wieacker-Wolff syndrome, female-restricted Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026763 MONDO:0016296 True holoprosencephaly 13, X-linked holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026765 MONDO:0005501 True congenital disorder of glycosylation, type IIr congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026767 MONDO:0021094 True immunodeficiency 74, COVID-19-related, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026777 MONDO:0019751 True VEXAS syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027048 MONDO:0033304 True deafness, Y-linked 2 nonsyndromic deafness, Y-linked SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027069 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 mitochondrial proton-transporting ATP synthase complex deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027353 MONDO:0015780 True autosomal recessive dyskeratosis congenita 4 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027407 MONDO:0012455 True Kleefstra syndrome 1 Kleefstra syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027676 MONDO:0019719 True congenital anomalies of kidney and urinary tract 2 congenital anomaly of kidney and urinary tract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027694 MONDO:0005144 True amyotrophic lateral sclerosis type 23 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027766 MONDO:0006573 True generalized lipodystrophy lipodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027767 MONDO:0006573 True partial lipodystrophy lipodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027772 MONDO:0004957 True lung colloid adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027772 MONDO:0005061 True lung colloid adenocarcinoma lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0028226 MONDO:0018542 True autosomal recessive severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029132 MONDO:0008323 True Liddle syndrome 3 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029133 MONDO:0015151 True muscular dystrophy, limb-girdle, autosomal dominant 4 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029134 MONDO:0006025 True severe combined immunodeficiency due to CARMIL2 deficiency autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029135 MONDO:0000173 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029135 MONDO:0015152 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029136 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 23 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029137 MONDO:0019587 True hearing loss, autosomal dominant 74 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029138 MONDO:0100062 True developmental and epileptic encephalopathy, 67 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029141 MONDO:0019501 True Usher syndrome, type 4 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029142 MONDO:0019588 True hearing loss, autosomal recessive 111 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029465 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030004 MONDO:0020836 True autism, susceptibility to, 20 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030008 MONDO:0000732 True combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030009 MONDO:0008756 True alopecia-intellectual disability syndrome 4 alopecia - intellectual disability syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030010 MONDO:0018555 True hypogonadotropic hypogonadism 25 with anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030013 MONDO:0021094 True immunodeficiency 66 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030014 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 26 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030015 MONDO:0000159 True bone marrow failure syndrome 6 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030017 MONDO:0000732 True combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030019 MONDO:0011773 True anauxetic dysplasia 3 anauxetic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030020 MONDO:0000732 True combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030026 MONDO:0003847 True retinal dystrophy with leukodystrophy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030027 MONDO:0003233 True tremor, hereditary essential, 6 essential tremor SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030031 MONDO:0018838 True lissencephaly 10 lissencephaly spectrum disorders SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030034 MONDO:0020074 True epilepsy, progressive myoclonic, 11 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030043 MONDO:0005501 True congenital disorder of glycosylation, type iit congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030044 MONDO:0009626 True pseudo-TORCH syndrome 3 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030049 MONDO:0003847 True 46,xx sex reversal 5 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030054 MONDO:0100062 True developmental and epileptic encephalopathy, 86 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030055 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 8 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030056 MONDO:0100238 True Fanconi renotubular syndrome 5 inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030061 MONDO:0020341 True periventricular nodular heterotopia 9 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030062 MONDO:0016342 True arrhythmogenic right ventricular dysplasia, familial, 14 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030064 MONDO:0016227 True episodic ataxia, type 9 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030069 MONDO:0018037 True hyper-IgE recurrent infection syndrome 5, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030070 MONDO:0018677 True heterotaxy, visceral, 9, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030071 MONDO:0003847 True retinitis pigmentosa 89 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030072 MONDO:0100062 True developmental and epileptic encephalopathy, 88 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030074 MONDO:0003847 True spondylometaphyseal dysplasia with corneal dystrophy hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030077 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 3 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030087 MONDO:0100164 True diabetes mellitus, permanent neonatal 2 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030088 MONDO:0100164 True diabetes mellitus, permanent neonatal 3 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030089 MONDO:0100164 True diabetes mellitus, permanent neonatal 4 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030116 MONDO:0008394 True silver-russell syndrome 2 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030118 MONDO:0008394 True silver-russell syndrome 4 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030258 MONDO:0020135 True pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030259 MONDO:0020135 True pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030260 MONDO:0020135 True pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030261 MONDO:0020135 True pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030263 MONDO:0019046 True leukodystrophy, hypomyelinating, 21 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030266 MONDO:0021094 True immunodeficiency 80 with or without congenital cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030268 MONDO:0100062 True developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030270 MONDO:0019313 True lymphatic malformation 9 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030281 MONDO:0015168 True arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030293 MONDO:0019623 True angioedema, hereditary, 5 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030294 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 3 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030296 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 4 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030298 MONDO:0019623 True angioedema, hereditary, 8 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030300 MONDO:0016333 True cardiomyopathy, dilated, 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030302 MONDO:0021094 True immunodeficiency 81 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030307 MONDO:0004983 True spermatogenic failure 55 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030308 MONDO:0021094 True immunodeficiency 82 with systemic inflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030311 MONDO:0000732 True combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030312 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 29 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030314 MONDO:0005265 True inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030316 MONDO:0019313 True lymphatic malformation 11 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030317 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 28 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030318 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 30 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030323 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 31 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030326 MONDO:0018158 True mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030329 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 5 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030330 MONDO:0016340 True cardiomyopathy, familial restrictive, 6 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030331 MONDO:0019078 True Ritscher-Schinzel syndrome 4 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030332 MONDO:0016575 True ciliary dyskinesia, primary, 46 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030333 MONDO:0021094 True immunodeficiency 84 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030335 MONDO:0000824 True diarrhea 12, with microvillus atrophy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030337 MONDO:0100237 True cutis laxa, autosomal recessive, type 2E inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030338 MONDO:0000819 True anencephaly 2 anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030339 MONDO:0016660 True microcephaly 28, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030341 MONDO:0018940 True myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030346 MONDO:0016575 True ciliary dyskinesia, primary, 47, and lissencephaly primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030353 MONDO:0018772 True Joubert syndrome 38 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030354 MONDO:0001347 True facioscapulohumeral muscular dystrophy 3, digenic facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030355 MONDO:0001347 True facioscapulohumeral muscular dystrophy 4, digenic facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030356 MONDO:0018770 True short-rib thoracic dysplasia 21 without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030360 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 6 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030361 MONDO:0018866 True Aicardi-Goutieres syndrome 8 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030362 MONDO:0018866 True Aicardi-Goutieres syndrome 9 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030366 MONDO:0016333 True cardiomyopathy, dilated, 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030374 MONDO:0023880 True WHIM syndrome 2 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030375 MONDO:0024189 True neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030376 MONDO:0023910 True Martsolf syndrome 2 Martsolf syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030378 MONDO:0000732 True combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030397 MONDO:0024193 True portal hypertension, noncirrhotic, 2 portal hypertension, noncirrhotic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030399 MONDO:0023961 True visceral neuropathy, familial, 2, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030423 MONDO:0005501 True congenital disorder of glycosylation, type 2v congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030428 MONDO:0021094 True immunodeficiency 85 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030430 MONDO:0004983 True spermatogenic failure 56 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030433 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, type 2FF Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030436 MONDO:0020099 True anemia, sideroblastic, 5 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030437 MONDO:0005501 True congenital disorder of glycosylation, type IIw congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030438 MONDO:0020135 True pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030439 MONDO:0004983 True spermatogenic failure 57 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030440 MONDO:0015993 True cone-rod dystrophy 22 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030448 MONDO:0021094 True immunodeficiency 86 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030449 MONDO:0019588 True hearing loss, autosomal recessive 118, with cochlear aplasia hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030453 MONDO:0100062 True developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030454 MONDO:0018772 True Joubert syndrome 39 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030455 MONDO:0044807 True dystonia 31 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030456 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 27 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030457 MONDO:0021094 True immunodeficiency 87 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030458 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, Type 2HH Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030462 MONDO:0018772 True Joubert syndrome 40 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030463 MONDO:0004983 True spermatogenic failure 58 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030465 MONDO:0005129 True cataract 49 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030471 MONDO:0009627 True Galloway-Mowat syndrome 9 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030472 MONDO:0100062 True developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030473 MONDO:0100062 True developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030474 MONDO:0018677 True heterotaxy, visceral, 10, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030475 MONDO:0018677 True heterotaxy, visceral, 11, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030476 MONDO:0009627 True Galloway-Mowat syndrome 10 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030480 MONDO:0019588 True hearing loss, autosomal recessive 119 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030482 MONDO:0019064 True spastic paraplegia 84, autosomal recessive hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030483 MONDO:0021094 True immunodeficiency 88 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030484 MONDO:0021094 True immunodeficiency 89 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030486 MONDO:0044807 True dystonia 32 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030487 MONDO:0016763 True spondylometaphyseal dysplasia, pagnamenta type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030489 MONDO:0017610 True epidermolysis bullosa simplex 2A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030490 MONDO:0014769 True oocyte maturation defect 11 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030491 MONDO:0021094 True immunodeficiency 91 and hyperinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030498 MONDO:0021094 True immunodeficiency 92 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030500 MONDO:0018954 True Loeys-Dietz syndrome 6 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030503 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 7, with or without hearing loss progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030505 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 8 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030506 MONDO:0009299 True ovarian dysgenesis 9 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030507 MONDO:0004983 True spermatogenic failure 61 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030508 MONDO:0004983 True spermatogenic failure 62 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030512 MONDO:0019064 True spastic paraplegia 85, autosomal recessive hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030513 MONDO:0044807 True dystonia 33 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030514 MONDO:0019046 True leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030515 MONDO:0004983 True spermatogenic failure 63 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030517 MONDO:0018053 True trichothiodystrophy 8, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030518 MONDO:0018053 True trichothiodystrophy 9, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030523 MONDO:0014769 True oocyte maturation defect 12 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030524 MONDO:0019249 True mucopolysaccharidosis, type 10 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030525 MONDO:0017610 True epidermolysis bullosa simplex 2B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030527 MONDO:0017610 True epidermolysis bullosa simplex 2C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030528 MONDO:0021094 True immunodeficiency 93 and hypertrophic cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030529 MONDO:0015977 True agammaglobulinemia 10, autosomal dominant agammaglobulinemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030531 MONDO:0004983 True spermatogenic failure 65 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030533 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 73 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030534 MONDO:0018555 True hypogonadotropic hypogonadism 26 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030535 MONDO:0017610 True epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030537 MONDO:0800031 True central hypoventilation syndrome, congenital, 2, and autonomic dysfunction central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030538 MONDO:0044807 True dystonia 34, myoclonic inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030539 MONDO:0800031 True central hypoventilation syndrome, congenital, 3 central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030543 MONDO:0000732 True combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030549 MONDO:0019587 True hearing loss, autosomal dominant 81 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030553 MONDO:0019696 True acromesomelic dysplasia 4 acromesomelic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030602 MONDO:0004652 True Klebsiella pneumonia bacterial pneumonia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030604 MONDO:0004356 True cystic partially differentiated nephroblastoma childhood multilocular cystic kidney neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030604 MONDO:0024676 True cystic partially differentiated nephroblastoma childhood kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030606 MONDO:0031200 True Bryant-Li-Bhoj neurodevelopmental syndrome 1 Bryant-Li-Bhoj neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030607 MONDO:0031200 True Bryant-Li-Bhoj neurodevelopmental syndrome 2 Bryant-Li-Bhoj neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030608 MONDO:0031199 True interstitial lung disease 1 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030619 MONDO:0019200 True retinitis pigmentosa 92 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030625 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal recessive dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030634 MONDO:0030796 True leukoencephalopathy, hereditary diffuse, with spheroids 2 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030669 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 2 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030673 MONDO:0019064 True spastic paraplegia 86, autosomal recessive hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030674 MONDO:0030639 True Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030676 MONDO:0013150 True parkinsonism-dystonia 3, childhood-onset parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030677 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1I Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030679 MONDO:0018997 True Noonan syndrome 14 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030680 MONDO:0016333 True cardiomyopathy, dilated, 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030684 MONDO:0018555 True hypogonadotropic hypogonadism 27 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030689 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1H Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030690 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030692 MONDO:0021094 True immunodeficiency 95 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030693 MONDO:0021094 True immunodeficiency 96 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030695 MONDO:0100062 True developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030696 MONDO:0018158 True mitochondrial DNA depletion syndrome 20 (mngie type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030697 MONDO:0001384 True myopia 28, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030700 MONDO:0007179 True autoimmune glomerulonephritis autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030701 MONDO:0000603 True autoimmune cardiomyopathy autoimmune disorder of cardiovascular system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030702 MONDO:0000603 True autoimmune atherosclerosis autoimmune disorder of cardiovascular system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030703 MONDO:0000603 True autoimmune vasculitis autoimmune disorder of cardiovascular system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030711 MONDO:0019403 True Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030714 MONDO:0019019 True osteogenesis imperfecta, IIA 22 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030716 MONDO:0004983 True spermatogenic failure 66 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030717 MONDO:0021094 True immunodeficiency 97 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030718 MONDO:0004983 True spermatogenic failure 67 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030719 MONDO:0019587 True hearing loss, autosomal dominant 82 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030721 MONDO:0004983 True spermatogenic failure 68 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030723 MONDO:0019587 True hearing loss, autosomal dominant 83 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030724 MONDO:0019587 True hearing loss, autosomal dominant 84 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030726 MONDO:0018542 True neutropenia, severe congenital, 9, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030729 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 1 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030730 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 2 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030731 MONDO:0019625 True aortic aneurysm, familial thoracic 12 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030732 MONDO:0004983 True spermatogenic failure 69 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030733 MONDO:0004983 True spermatogenic failure 70 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030736 MONDO:0009299 True ovarian dysgenesis 10 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030746 MONDO:0017612 True epidermolysis bullosa, junctional 2A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030747 MONDO:0017612 True epidermolysis bullosa, junctional 2B, severe junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030748 MONDO:0017612 True epidermolysis bullosa, junctional 3A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030749 MONDO:0017612 True epidermolysis bullosa, junctional 3B, severe junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030750 MONDO:0017612 True epidermolysis bullosa, junctional 4, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030756 MONDO:0031280 True Stuve-Wiedemann syndrome 2 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030768 MONDO:0017612 True epidermolysis bullosa, junctional 5A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030770 MONDO:0031376 True congenital disorder of deglycosylation 2 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030787 MONDO:0004983 True spermatogenic failure 71 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030797 MONDO:0019200 True retinitis pigmentosa 93 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030798 MONDO:0021094 True immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030800 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 9 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030801 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 2 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030805 MONDO:0020380 True spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030809 MONDO:0004983 True spermatogenic failure 72 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030810 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 10 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030813 MONDO:0021094 True immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030815 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 11 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030818 MONDO:0004983 True spermatogenic failure 73 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030819 MONDO:0018921 True meckel syndrome 14 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030822 MONDO:0018470 True renal hypodysplasia/aplasia 4 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030827 MONDO:0031447 True macrothrombocytopenia, isolated, 2, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030839 MONDO:0031432 True thyroid hormone metabolism, abnormal, 2 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030840 MONDO:0031219 True mismatch repair cancer syndrome 2 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030841 MONDO:0031219 True mismatch repair cancer syndrome 3 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030843 MONDO:0031219 True mismatch repair cancer syndrome 4 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030844 MONDO:0004983 True spermatogenic failure 47 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030846 MONDO:0004983 True spermatogenic failure 48 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030847 MONDO:0019942 True arthrogryposis, distal, type 1C distal arthrogryposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030854 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030855 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030856 MONDO:0100062 True developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030858 MONDO:0021094 True immunodeficiency 75 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030861 MONDO:0019019 True osteogenesis imperfecta, type 21 osteogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030864 MONDO:0019078 True Ritscher-Schinzel syndrome 3 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030867 MONDO:0100241 True thrombocytopenia 7 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030868 MONDO:0004983 True spermatogenic failure 49 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030869 MONDO:0004983 True spermatogenic failures 50 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030870 MONDO:0019852 True premature ovarian failure 17 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030871 MONDO:0003847 True vertebral hypersegmentation and orofacial anomalies hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030872 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030875 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 5 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030876 MONDO:0031386 True cardioacrofacial dysplasia 1 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030877 MONDO:0031386 True cardioacrofacial dysplasia 2 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030881 MONDO:0100062 True developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030883 MONDO:0007275 True carpal tunnel syndrome 2 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030885 MONDO:0005144 True amyotrophic lateral sclerosis 26 with or without frontotemporal dementia familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030886 MONDO:0016296 True holoprosencephaly 14 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030887 MONDO:0016333 True cardiomyopathy, dilated, 2G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030890 MONDO:0020135 True pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030891 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 66 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030894 MONDO:0000159 True AMED syndrome, digenic bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030895 MONDO:0002350 True nephrotic syndrome, type 22 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030898 MONDO:0021094 True immunodeficiency 76 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030899 MONDO:0018910 True oculocutaneous albinism type 8 oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030902 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 36 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030903 MONDO:0019312 True Hermansky-Pudlak syndrome 11 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030905 MONDO:0019588 True hearing loss, autosomal recessive 117 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030906 MONDO:0002154 True Trichomonas tenax infectious disease trichomoniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030907 MONDO:0019181 True intellectual disability, X-linked 106 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030908 MONDO:0020119 True intellectual disability, X-linked, syndromic, 35 X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030909 MONDO:0020119 True intellectual disability, X-linked, syndromic, Houge type X-linked syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030910 MONDO:0015802 True intellectual disability, autosomal dominant 45 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030911 MONDO:0015802 True intellectual disability, autosomal dominant 46 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030912 MONDO:0015159 True intellectual disability, autosomal dominant 47 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030912 MONDO:0015802 True intellectual disability, autosomal dominant 47 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030913 MONDO:0015159 True intellectual disability, autosomal dominant 48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030913 MONDO:0100172 True intellectual disability, autosomal dominant 48 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030914 MONDO:0015802 True Clark-Baraitser syndrome autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030915 MONDO:0019502 True intellectual disability, autosomal recessive 61 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030916 MONDO:0015802 True intellectual disability, autosomal dominant 50 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030917 MONDO:0015802 True intellectual disability, autosomal dominant 51 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030918 MONDO:0015802 True intellectual disability, autosomal dominant 52 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030919 MONDO:0015802 True intellectual disability, autosomal dominant 53 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030920 MONDO:0015802 True intellectual disability, autosomal dominant 54 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030921 MONDO:0015802 True intellectual disability, autosomal dominant 55, with seizures autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030922 MONDO:0015802 True intellectual disability, autosomal dominant 56 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030924 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 5 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030925 MONDO:0014769 True oocyte maturation defect 10 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030926 MONDO:0004983 True spermatogenic failure 51 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030927 MONDO:0018943 True myofibrillar myopathy 11 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030931 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030933 MONDO:0018772 True Joubert syndrome 37 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030934 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 64 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030935 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 2 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030936 MONDO:0020074 True epilepsy, progressive myoclonic, 12 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030937 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 3 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030938 MONDO:0004983 True spermatogenic failure 52 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030939 MONDO:0019852 True premature ovarian failure 18 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030941 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 7 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030953 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030957 MONDO:0100062 True developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030958 MONDO:0044807 True dystonia 35, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030961 MONDO:0031421 True Olmsted syndrome 2 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030962 MONDO:0002350 True nephrotic syndrome, type 23 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030964 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 67 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030968 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 76 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030969 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030970 MONDO:0021094 True immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030971 MONDO:0021094 True immunodeficiency 78 with autoimmunity and developmental delay immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030972 MONDO:0004983 True spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030973 MONDO:0021094 True immunodeficiency 77 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030974 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030975 MONDO:0019852 True premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030977 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030983 MONDO:0018094 True Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030984 MONDO:0004983 True spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030985 MONDO:0019852 True premature ovarian failure 19 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030993 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030996 MONDO:0000009 True bleeding disorder, platelet-type, 24 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030997 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 37 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030998 MONDO:0019587 True hearing loss, autosomal dominant 80 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031000 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031003 MONDO:0100327 True hypercholanemia, familial, 2 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031009 MONDO:0100326 True Glanzmann thrombasthenia 2 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031010 MONDO:0031169 True odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031012 MONDO:0000587 True autoimmune uveitis autoimmune disease of ear, nose and throat SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031013 MONDO:0000590 True autoimmune optic neuritis autoimmune disorder of peripheral nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031014 MONDO:0000588 True autoimmune gastritis autoimmune disorder of gastrointestinal tract SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031019 MONDO:0019064 True spastic paraplegia 87, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031021 MONDO:0100062 True developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031028 MONDO:0100062 True developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031030 MONDO:0021094 True immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031031 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 77 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031040 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 12 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031043 MONDO:0019313 True lymphatic malformation 12 lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031044 MONDO:0015609 True advance sleep phase syndrome, familial, 4 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031045 MONDO:0019942 True arthrogryposis, distal, IIa 11 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031047 MONDO:0019354 True stickler syndrome, IIa 6 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031052 MONDO:0100062 True developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031054 MONDO:0016575 True ciliary dyskinesia, primary, 48, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031055 MONDO:0100062 True developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031057 MONDO:0015780 True dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031060 MONDO:0016660 True microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031061 MONDO:0002350 True nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031062 MONDO:0020642 True polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031068 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031071 MONDO:0015253 True Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031083 MONDO:0004983 True spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031084 MONDO:0019507 True amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031329 MONDO:0002254 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031332 MONDO:0100326 True Glanzmann thrombasthenia 1 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031421 MONDO:0019272 True Olmsted syndrome hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031446 MONDO:0100327 True hypercholanemia, familial 1 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031481 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 1 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032526 MONDO:0020380 True spinocerebellar ataxia 48 autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032564 MONDO:0016256 True hennekam lymphangiectasia-lymphedema syndrome 3 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032567 MONDO:0000050 True isolated growth hormone deficiency, type 4 isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032570 MONDO:0018772 True Joubert syndrome 35 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032573 MONDO:0000159 True bone marrow failure syndrome 5 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032575 MONDO:0000824 True diarrhea 9 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032577 MONDO:0019200 True retinitis pigmentosa 83 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032578 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 9 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032580 MONDO:0002350 True nephrotic syndrome, type 17 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032581 MONDO:0002350 True nephrotic syndrome, type 18 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032582 MONDO:0002350 True nephrotic syndrome, type 19 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032583 MONDO:0016660 True microcephaly 24, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032584 MONDO:0019287 True ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032586 MONDO:0000824 True diarrhea 10, protein-losing enteropathy type congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032588 MONDO:0020341 True periventricular nodular heterotopia 8 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032590 MONDO:0009299 True ovarian dysgenesis 8 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032591 MONDO:0016166 True hyperparathyroidism, transient neonatal hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032592 MONDO:0016333 True cardiomyopathy, dilated, 2c familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032596 MONDO:0018940 True myasthenic syndrome, congenital, 23, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032597 MONDO:0018940 True myasthenic syndrome, congenital, 24, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032598 MONDO:0100062 True developmental and epileptic encephalopathy, 68 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032599 MONDO:0021094 True immunodeficiency 15a immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032603 MONDO:0020927 True polydactyly, postaxial, type A9 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032604 MONDO:0019200 True retinitis pigmentosa 84 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032605 MONDO:0019502 True intellectual disability, autosomal recessive 66 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032606 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032607 MONDO:0003847 True vertebral anomalies and variable endocrine and T-cell dysfunction hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032608 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032609 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032610 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032611 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032612 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032613 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032614 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 2 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032615 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032616 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032617 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032618 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032619 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032620 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032621 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032622 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032623 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032624 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032625 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032626 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032627 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032628 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032629 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032630 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032631 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032632 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032633 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032634 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032635 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032636 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032637 MONDO:0016575 True ciliary dyskinesia, primary, 39 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032639 MONDO:0019588 True hearing loss, autosomal recessive 112 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032641 MONDO:0016558 True mirror movements 4 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032643 MONDO:0020135 True pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032644 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 3 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032646 MONDO:0019719 True congenital anomalies of kidney and urinary tract 3 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032648 MONDO:0003847 True mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032649 MONDO:0003037 True hypotrichosis 14 hypotrichosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032654 MONDO:0018037 True hyper-IgE recurrent infection syndrome 3, autosomal recessive hyper-IgE syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032655 MONDO:0003847 True visual impairment and progressive phthisis bulbi hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032657 MONDO:0100062 True developmental and epileptic encephalopathy, 69 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032660 MONDO:0018190 True spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032662 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 67 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032663 MONDO:0100062 True developmental and epileptic encephalopathy, 70 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032664 MONDO:0016575 True ciliary dyskinesia, primary, 40 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032665 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 68 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032666 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 4 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032667 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 5 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032668 MONDO:0015253 True Diamond-Blackfan anemia 18 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032669 MONDO:0015253 True Diamond-Blackfan anemia 19 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032670 MONDO:0015253 True Diamond-Blackfan anemia 20 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032673 MONDO:0008947 True basal ganglia calcification, idiopathic, 7, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032675 MONDO:0018940 True myasthenic syndrome, congenital, 25, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032678 MONDO:0100062 True developmental and epileptic encephalopathy, 71 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032679 MONDO:0000732 True combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032686 MONDO:0004983 True spermatogenic failure 35 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032687 MONDO:0003847 True intellectual developmental disorder with abnormal behavior, microcephaly, and short stature hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032689 MONDO:0019200 True retinitis pigmentosa 85 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032691 MONDO:0009627 True Galloway-Mowat syndrome 6 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032692 MONDO:0009627 True Galloway-Mowat syndrome 7 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032693 MONDO:0009627 True Galloway-Mowat syndrome 8 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032694 MONDO:0016660 True microcephaly 25, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032696 MONDO:0014769 True oocyte maturation defect 6 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032702 MONDO:0015452 True Coffin-Siris syndrome 8 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032705 MONDO:0017313 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination disorder of folate metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032705 MONDO:0019046 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032706 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 27 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032710 MONDO:0100062 True developmental and epileptic encephalopathy, 72 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032712 MONDO:0000732 True combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032715 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 69 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032717 MONDO:0019507 True amelogenesis imperfecta, type 3c amelogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032721 MONDO:0016761 True spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032723 MONDO:0021094 True immunodeficiency 60 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032724 MONDO:0006025 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032724 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032725 MONDO:0100062 True developmental and epileptic encephalopathy, 74 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032726 MONDO:0000732 True combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032728 MONDO:0018993 True Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032729 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 70 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032730 MONDO:0019046 True leukodystrophy, hypomyelinating, 18 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032732 MONDO:0019588 True hearing loss, autosomal recessive 113 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032735 MONDO:0005129 True cataract 48 cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032737 MONDO:0019064 True spastic paraplegia 80, autosomal dominant hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032739 MONDO:0004983 True spermatogenic failure 36 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032740 MONDO:0019588 True hearing loss, autosomal recessive 100 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032744 MONDO:0004983 True spermatogenic failure 37 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032746 MONDO:0006248 True hydatidiform mole, recurrent, 3 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032747 MONDO:0006248 True hydatidiform mole, recurrent, 4 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032748 MONDO:0004983 True spermatogenic failure 38 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032749 MONDO:0019588 True hearing loss, autosomal recessive 94 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032750 MONDO:0000426 True arthrogryposis, distal, type 2B2 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032750 MONDO:0011128 True arthrogryposis, distal, type 2B2 Sheldon-hall syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032751 MONDO:0000426 True arthrogryposis, distal, type 2B3 autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032751 MONDO:0011128 True arthrogryposis, distal, type 2B3 Sheldon-hall syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032752 MONDO:0100062 True developmental and epileptic encephalopathy, 75 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032753 MONDO:0017845 True spastic ataxia 9, autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032756 MONDO:0019171 True long qt syndrome 8 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032757 MONDO:0016575 True ciliary dyskinesia, primary, 41 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032761 MONDO:0019588 True hearing loss, autosomal recessive 114 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032762 MONDO:0019588 True hearing loss, autosomal recessive 115 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032763 MONDO:0021094 True immunodeficiency 62 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032765 MONDO:0000009 True bleeding disorder, platelet-type, 22 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032766 MONDO:0003847 True hypoalphalipoproteinemia, primary, 2 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032767 MONDO:0000448 True paragangliomas 6 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032768 MONDO:0100062 True developmental and epileptic encephalopathy, 76 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032771 MONDO:0000448 True paragangliomas 7 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032776 MONDO:0019588 True hearing loss, autosomal recessive 99 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032777 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032778 MONDO:0015168 True arthrogryposis multiplex congenita 3, myogenic type arthrogryposis multiplex congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032782 MONDO:0021094 True immunodeficiency 63 with lymphoproliferation and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032783 MONDO:0007194 True aortic valve disease 3 familial bicuspid aortic valve SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032785 MONDO:0020927 True polydactyly, postaxial, type a10 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032786 MONDO:0018997 True Noonan syndrome 11 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032787 MONDO:0016296 True holoprosencephaly 12 with or without pancreatic agenesis holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032789 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 71 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032791 MONDO:0015452 True Coffin-Siris syndrome 10 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital amaurosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032797 MONDO:0019952 True myopathy, congenital, with tremor congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032799 MONDO:0018158 True mitochondrial DNA depletion syndrome 16 (hepatic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032800 MONDO:0019978 True robinow syndrome, autosomal recessive 2 Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032802 MONDO:0019587 True hearing loss, autosomal dominant 37 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032803 MONDO:0021094 True immunodeficiency 64 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032804 MONDO:0019287 True ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032806 MONDO:0018053 True trichothiodystrophy 7, nonphotosensitive trichothiodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032808 MONDO:0002525 True developmental and epileptic encephalopathy, 77 inherited lipid metabolism disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032808 MONDO:0100062 True developmental and epileptic encephalopathy, 77 developmental and epileptic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032808 MONDO:0100247 True developmental and epileptic encephalopathy, 77 multiple congenital anomalies-hypotonia-seizures syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032810 MONDO:0014769 True oocyte maturation defect 7 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032811 MONDO:0016293 True night blindness, congenital stationary, type1i congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032812 MONDO:0100062 True developmental and epileptic encephalopathy, 78 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032813 MONDO:0100062 True developmental and epileptic encephalopathy, 79 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032815 MONDO:0018158 True mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032819 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 7 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032819 MONDO:0016410 True hypothyroidism, congenital, nongoitrous, 7 central congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032821 MONDO:0019952 True myopathy, congenital, progressive, with scoliosis congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032822 MONDO:0100062 True developmental and epileptic encephalopathy, 80 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032826 MONDO:0002350 True nephrotic syndrome, type 21 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032831 MONDO:0020135 True pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032834 MONDO:0019200 True retinitis pigmentosa 86 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032835 MONDO:0016761 True spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032837 MONDO:0000816 True abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032839 MONDO:0018997 True noonan syndrome 12 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032842 MONDO:0003847 True Siddiqi syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032844 MONDO:0000023 True infantile liver failure syndrome 3 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032845 MONDO:0004983 True spermatogenic failure 39 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032846 MONDO:0019019 True osteogenesis imperfecta, type 20 osteogenesis imperfecta SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032848 MONDO:0021094 True immunodeficiency 65, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032850 MONDO:0003847 True neurooculocardiogenitourinary syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032852 MONDO:0019952 True myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032854 MONDO:0000200 True zimmermann-laband syndrome 3 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032857 MONDO:0000824 True diarrhea 11, malabsorptive, congenital congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032858 MONDO:0100062 True developmental and epileptic encephalopathy, 81 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032859 MONDO:0004983 True spermatogenic failure 40 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032860 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 72 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032863 MONDO:0004983 True spermatogenic failure 41 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032865 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032866 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 10 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032869 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mitochondrial proton-transporting ATP synthase complex deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032870 MONDO:0003847 True intellectual developmental disorder with short stature and behavioral abnormalities hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032871 MONDO:0019046 True leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032872 MONDO:0016575 True ciliary dyskinesia, primary, 42 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032873 MONDO:0019200 True retinitis pigmentosa 87 with choroidal involvement retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032874 MONDO:0016575 True ciliary dyskinesia, primary, 43 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032879 MONDO:0003847 True megabladder, congenital hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032880 MONDO:0100062 True developmental and epileptic encephalopathy, 82 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032881 MONDO:0019852 True premature ovarian failure 16 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial berry aneurysm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032902 MONDO:0018772 True Joubert syndrome 36 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032905 MONDO:0019064 True spastic paraplegia 81, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032906 MONDO:0019064 True spastic paraplegia 82, autosomal recessive hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032907 MONDO:0019313 True lymphatic malformation 8 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032909 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 10 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032910 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032911 MONDO:0019587 True hearing loss, autosomal dominant 75 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032912 MONDO:0015452 True Coffin-Siris syndrome 11 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032914 MONDO:0016575 True ciliary dyskinesia, primary, 44 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032915 MONDO:0017990 True long QT syndrome 16 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032915 MONDO:0019171 True long QT syndrome 16 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032917 MONDO:0019587 True hearing loss, autosomal dominant 76 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032918 MONDO:0100062 True developmental and epileptic encephalopathy, 84 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032923 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 28 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032924 MONDO:0016575 True ciliary dyskinesia, primary, 45 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032926 MONDO:0003847 True sandestig-stefanova syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032932 MONDO:0018158 True mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032936 MONDO:0019952 True myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032937 MONDO:0019952 True myopathy, congenital proximal, with minicore lesions congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032938 MONDO:0008947 True basal ganglia calcification, idiopathic, 8, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032940 MONDO:0019200 True retinitis pigmentosa 88 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032941 MONDO:0001384 True myopia 27 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033004 MONDO:0009889 True polycystic kidney disease 4 autosomal recessive polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033005 MONDO:0009627 True Galloway-Mowat syndrome 1 Galloway-Mowat syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033006 MONDO:0009627 True Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033007 MONDO:0009627 True Galloway-Mowat syndrome 3 Galloway-Mowat syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033008 MONDO:0009627 True Galloway-Mowat syndrome 4 Galloway-Mowat syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033009 MONDO:0009627 True Galloway-Mowat syndrome 5 Galloway-Mowat syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033010 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033012 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033013 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033014 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033015 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033043 MONDO:0017847 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033043 MONDO:0019046 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033044 MONDO:0018921 True Meckel syndrome 13 Meckel syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033045 MONDO:0015375 True orofaciodigital syndrome 16 orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033046 MONDO:0016817 True Meier-Gorlin syndrome 8 Meier-Gorlin syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033047 MONDO:0017312 True Perrault syndrome 6 Perrault syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033091 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 14 autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033092 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 13 autosomal recessive congenital ichthyosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033115 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 25 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033116 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 26 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033123 MONDO:0019516 True exudative vitreoretinopathy 7 exudative vitreoretinopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033135 MONDO:0000426 True Charcot-Marie-Tooth disease, demyelinating, type 1G autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033135 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1G Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033198 MONDO:0019588 True hearing loss, autosomal recessive 106 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033199 MONDO:0019588 True hearing loss, autosomal recessive 107 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033200 MONDO:0019588 True hearing loss, autosomal recessive 108 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033201 MONDO:0019588 True hearing loss, autosomal recessive 57 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033202 MONDO:0019588 True hearing loss, autosomal recessive 109 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033203 MONDO:0002350 True nephrotic syndrome 14 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033203 MONDO:0018117 True nephrotic syndrome 14 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033204 MONDO:0016575 True ciliary dyskinesia, primary, 37 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033258 MONDO:0019587 True hearing loss, autosomal dominant 71 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033259 MONDO:0019587 True hearing loss, autosomal dominant 72 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033260 MONDO:0019587 True hearing loss, autosomal dominant 73 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033261 MONDO:0019587 True hearing loss, autosomal dominant 34, with or without inflammation autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033262 MONDO:0002350 True nephrotic syndrome 15 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033280 MONDO:0002350 True nephrotic syndrome 16 familial nephrotic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033281 MONDO:0009889 True polycystic kidney disease 5 autosomal recessive polycystic kidney disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033282 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 5 fatal multiple mitochondrial dysfunctions syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033304 MONDO:0000428 True nonsyndromic deafness, Y-linked Y-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033304 MONDO:0019497 True nonsyndromic deafness, Y-linked nonsyndromic genetic hearing loss SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033308 MONDO:0018772 True Joubert syndrome 30 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033309 MONDO:0018772 True Joubert syndrome 32 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033310 MONDO:0018772 True Joubert syndrome 31 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033311 MONDO:0018772 True Joubert syndrome 33 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033312 MONDO:0005090 True schizophrenia 19 schizophrenia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033361 MONDO:0100062 True developmental and epileptic encephalopathy, 52 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033362 MONDO:0100062 True developmental and epileptic encephalopathy, 53 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033363 MONDO:0100062 True developmental and epileptic encephalopathy, 54 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033364 MONDO:0100062 True developmental and epileptic encephalopathy, 55 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033365 MONDO:0100062 True developmental and epileptic encephalopathy, 56 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033366 MONDO:0100062 True developmental and epileptic encephalopathy, 57 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033367 MONDO:0100062 True developmental and epileptic encephalopathy, 58 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033368 MONDO:0100062 True developmental and epileptic encephalopathy, 59 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033369 MONDO:0100062 True developmental and epileptic encephalopathy, 60 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033370 MONDO:0100062 True developmental and epileptic encephalopathy, 61 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033371 MONDO:0100062 True developmental and epileptic encephalopathy, 62 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033372 MONDO:0100062 True developmental and epileptic encephalopathy, 63 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033373 MONDO:0100062 True developmental and epileptic encephalopathy, 64 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033374 MONDO:0100062 True developmental and epileptic encephalopathy, 65 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033375 MONDO:0015375 True orofaciodigital syndrome 17 orofaciodigital syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033479 MONDO:0020380 True spinocerebellar ataxia 44 autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033480 MONDO:0019793 True spinocerebellar ataxia 45 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033481 MONDO:0019792 True spinocerebellar ataxia 46 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033482 MONDO:0020380 True spinocerebellar ataxia 47 autosomal dominant cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033483 MONDO:0001115 True erythrocytosis, familial, 5 familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033485 MONDO:0018770 True short-rib thoracic dysplasia 19 with or without polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033486 MONDO:0019046 True leukodystrophy, hypomyelinating, 14 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033492 MONDO:0015802 True Coffin-Siris syndrome 6 autosomal dominant non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033493 MONDO:0016070 True fibromatosis, gingival, 5 hereditary gingival fibromatosis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033533 MONDO:0000732 True combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033534 MONDO:0000732 True combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033537 MONDO:0000732 True combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033541 MONDO:0021094 True immunodeficiency 69 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033542 MONDO:0021094 True immunodeficiency 70 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033545 MONDO:0018158 True mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033548 MONDO:0019952 True myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033549 MONDO:0043878 True optic atrophy 12 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033551 MONDO:0021094 True immunodeficiency 72 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033556 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 muscular dystrophy-dystroglycanopathy, type B SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033560 MONDO:0003847 True mitochondrial complex 1 deficiency, nuclear type 35 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033563 MONDO:0019200 True retinitis pigmentosa 90 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033564 MONDO:0014769 True oocyte maturation defect 8 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033565 MONDO:0014769 True oocyte maturation defect 9 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033566 MONDO:0000732 True combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033569 MONDO:0003847 True combined oxidative phosphorylation deficiency 49 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033570 MONDO:0003847 True combined oxidative phosphorylation deficiency 50 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033614 MONDO:0019064 True spastic paraplegia 83, autosomal recessive hereditary spastic paraplegia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033615 MONDO:0018151 True coenzyme q10 deficiency, primary, 9 coenzyme Q10 deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033620 MONDO:0018943 True myofibrillar myopathy 10 myofibrillar myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033622 MONDO:0004983 True spermatogenic failure 44 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033631 MONDO:0000732 True combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033635 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 3 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033636 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 4 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033637 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 7 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033638 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 8 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033639 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 10 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033643 MONDO:0005265 True inflammatory bowel disease 30 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033645 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 11 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033646 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 12 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033649 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 14 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033650 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 15 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033651 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 16 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033652 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 17 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033653 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 18 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033654 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 19 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033655 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 20 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033656 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 21 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033657 MONDO:0019046 True leukodystrophy, hypomyelinating, 20 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033665 MONDO:0019587 True hearing loss, autosomal dominant 78 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033668 MONDO:0019587 True hearing loss, autosomal dominant 79 autosomal dominant nonsyndromic hearing loss SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033669 MONDO:0018997 True Noonan syndrome 13 Noonan syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033670 MONDO:0019588 True hearing loss, autosomal recessive 116 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033671 MONDO:0004983 True spermatogenic failure 45 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033673 MONDO:0004983 True spermatogenic failure 46 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0015159 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0015708 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033682 MONDO:0019694 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0015159 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0015708 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0018234 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0019054 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033683 MONDO:0019453 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033717 MONDO:0020043 True congenital cerebellar ataxia due to RNU12 mutation autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033810 MONDO:0019503 True isolated iridoschisis anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033821 MONDO:0023865 True fungal keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033838 MONDO:0015923 True radiation-induced plexopathy acquired peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033838 MONDO:0043459 True radiation-induced plexopathy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033850 MONDO:0017762 True autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect disorder of copper metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033862 MONDO:0019787 True primary autoimmune enteropathy autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033946 MONDO:0019623 True hereditary angioedema with C1Inh deficiency hereditary angioedema SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033946 MONDO:0027749 True hereditary angioedema with C1Inh deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033948 MONDO:0019624 True acquired angioedema with C1Inh deficiency acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0005570 True monoclonal mast cell activation syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033968 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033969 MONDO:0003778 True inflammatory bowel disease-recurrent sinopulmonary infections syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033980 MONDO:0003266 True RELA fusion-positive ependymoma ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034021 MONDO:0020066 True spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034022 MONDO:0008029 True Bethlem myopathy 2 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034092 MONDO:0020127 True optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034099 MONDO:0020071 True SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034103 MONDO:0001549 True infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034106 MONDO:0015159 True developmental and epileptic encephalopathy, 73 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034106 MONDO:0100062 True developmental and epileptic encephalopathy, 73 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034109 MONDO:0006025 True congenital myopathy with reduced type 2 muscle fibers autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034109 MONDO:0019952 True congenital myopathy with reduced type 2 muscle fibers congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034121 MONDO:0014960 True NAD(P)HX dehydratase deficiency encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034121 MONDO:0019052 True NAD(P)HX dehydratase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034127 MONDO:0019337 True IgA pemphigus autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034142 MONDO:0015159 True pancreatic agenesis-holoprosencephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034143 MONDO:0017198 True early-onset calcifying leukoencephalopathy-skeletal dysplasia osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034143 MONDO:0019046 True early-onset calcifying leukoencephalopathy-skeletal dysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034145 MONDO:0005308 True oculocerebrodental syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034145 MONDO:0015159 True oculocerebrodental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034146 MONDO:0017847 True spastic ataxia-dysarthria due to glutaminase deficiency autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034186 MONDO:0019222 True autosomal recessive extra-oral halitosis inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034976 MONDO:0018686 True iatrogenic Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035004 MONDO:0018162 True serine biosynthesis pathway deficiency, infantile/juvenile form neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035112 MONDO:0018874 True acute myeloid leukemia with BCR-ABL1 acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035117 MONDO:0015653 True PUM1-associated developmental disability-ataxia-seizure syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035117 MONDO:0019792 True PUM1-associated developmental disability-ataxia-seizure syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035121 MONDO:0015688 True myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035124 MONDO:0019287 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035124 MONDO:0019290 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035133 MONDO:0015159 True PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035151 MONDO:0016915 True 17q24.2 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035153 MONDO:0005372 True male infertility due to acephalic spermatozoa male infertility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035173 MONDO:0016874 True 9q21.13 microdeletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035220 MONDO:0019623 True PLG-related hereditary angioedema with normal C1inh hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035235 MONDO:0018824 True classic pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035236 MONDO:0018824 True pustular pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035237 MONDO:0018824 True bullous pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035238 MONDO:0018824 True vegetative pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035290 MONDO:0016244 True atypical hemolytic uremic syndrome with complement gene abnormality atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035293 MONDO:0034103 True streptococcus pneumoniae-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035295 MONDO:0018960 True congenital primary megaureter, refluxing and obstructed form congenital primary megaureter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035320 MONDO:0018541 True early-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035321 MONDO:0018541 True late-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035349 MONDO:0006543 True localized dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035400 MONDO:0016264 True seronegative autoimmune hepatitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035403 MONDO:0016092 True serous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035404 MONDO:0016092 True mucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035405 MONDO:0016092 True seromucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035406 MONDO:0018941 True furuncular myiasis due to Dermatobia hominis furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035407 MONDO:0018941 True furuncular myiasis due to Cordylobia anthropophaga furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035408 MONDO:0018941 True furuncular myiasis due to Cordylobia rodhaini furuncular myiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035410 MONDO:0013003 True isolated congenital aglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035411 MONDO:0013003 True isolated congenital hypoglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035423 MONDO:0015611 True triglyceride deposit cardiomyovasculopathy neutral lipid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035432 MONDO:0016971 True POMGNT2-related limb-girdle muscular dystrophy R24 limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035433 MONDO:0016971 True calpain-3-related limb-girdle muscular dystrophy D4 limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035437 MONDO:0019751 True CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035444 MONDO:0007950 True acute mast cell leukemia mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035445 MONDO:0007950 True chronic mast cell leukemia mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035459 MONDO:0018170 True idiopathic multidrug-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035460 MONDO:0018170 True idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035472 MONDO:0019175 True GJC2-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035473 MONDO:0019175 True warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035474 MONDO:0019175 True PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035475 MONDO:0019175 True EPHB4-related lymphatic-related hydrops fetalis primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035499 MONDO:0019175 True CELSR1-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035521 MONDO:0016868 True blepharophimosis-ptosis-epicanthus inversus syndrome plus partial deletion of chromosome 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035524 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035525 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035540 MONDO:0021227 True pheochromocytoma-paraganglioma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035562 MONDO:0018926 True acquired human prion disease human prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035605 MONDO:0003538 True B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035614 MONDO:0018926 True sporadic fatal insomnia human prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035639 MONDO:0020743 True mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035642 MONDO:0020743 True mixed phenotype acute leukemia with t(v;11q23.3) mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035646 MONDO:0008056 True congenital-onset Steinert myotonic dystrophy myotonic dystrophy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035647 MONDO:0016107 True childhood-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035648 MONDO:0016107 True juvenile-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035649 MONDO:0016107 True adult-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035650 MONDO:0016107 True late-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035663 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035664 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035665 MONDO:0019100 True neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035666 MONDO:0015342 True acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035667 MONDO:0044688 True isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035668 MONDO:0044688 True isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035669 MONDO:0019383 True acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035670 MONDO:0019383 True acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035694 MONDO:0015131 True combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035696 MONDO:0035357 True incomplete septal cirrhosis portosinusoidal vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035734 MONDO:0019623 True hereditary angioedema with normal C1inh not related to F12 or PLG variant hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035782 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, bulbar type anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035783 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, prostatic type anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035838 MONDO:0015564 True idiopathic multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035892 MONDO:0020129 True Mills syndrome acquired motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035930 MONDO:0000179 True neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035940 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035941 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035942 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035943 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035944 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035945 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036042 MONDO:0015159 True KAT6B-related multiple congenital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036217 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036218 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036482 MONDO:0019200 True retinitis pigmentosa 81 retinitis pigmentosa SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036483 MONDO:0018770 True short-rib thoracic dysplasia 18 with polydactyly Jeune syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036484 MONDO:0018778 True Charcot-Marie-Tooth disease, dominant intermediate G intermediate Charcot-Marie-Tooth disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036501 MONDO:0004992 True refractory malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036511 MONDO:0002367 True childhood malignant kidney neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036511 MONDO:0002730 True childhood malignant kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036511 MONDO:0006517 True childhood malignant kidney neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036591 MONDO:0021227 True adrenal cortex neoplasm adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036595 MONDO:0020807 True ovarian Sertoli-Leydig cell tumor ovarian sertoli-stromal cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036688 MONDO:0003061 True rhabdomyoma benign muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036696 MONDO:0002332 True spleen neoplasm splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036696 MONDO:0002334 True spleen neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036779 MONDO:0021350 True axillary neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036781 MONDO:0000634 True benign axillary neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036781 MONDO:0036779 True benign axillary neoplasm axillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036870 MONDO:0005385 True lymphatic vessel neoplasm vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036870 MONDO:0024296 True lymphatic vessel neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036915 MONDO:0000646 True benign ovarian mucinous tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036915 MONDO:0003756 True benign ovarian mucinous tumor ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036915 MONDO:0036976 True benign ovarian mucinous tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036918 MONDO:0019268 True punctate acrokeratoderma freckle-like pigmentation epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036976 MONDO:0005165 True benign epithelial neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036976 MONDO:0005626 True benign epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036990 MONDO:0006266 True benign Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037002 MONDO:0005078 True benign phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037002 MONDO:0005165 True benign phyllodes tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037003 MONDO:0005078 True malignant phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037003 MONDO:0005853 True malignant phyllodes tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037105 MONDO:0018201 True lung germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037105 MONDO:0021117 True lung germ cell tumor lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037149 MONDO:0010327 True HSD10 disease, atypical type HSD10 mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037250 MONDO:0021079 True childhood testicular neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037250 MONDO:0021348 True childhood testicular neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037252 MONDO:0006055 True thecoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037253 MONDO:0021657 True ovarian thecoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037253 MONDO:0037252 True ovarian thecoma thecoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037254 MONDO:0005626 True transitional cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037255 MONDO:0002229 True ovarian serous tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037255 MONDO:0037256 True ovarian serous tumor serous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037256 MONDO:0024276 True serous neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037735 MONDO:0002898 True sebaceous gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037735 MONDO:0006963 True sebaceous gland cancer sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037736 MONDO:0021211 True infratentorial neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037737 MONDO:0006901 True peritoneal solitary fibrous tumor peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037737 MONDO:0016238 True peritoneal solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037740 MONDO:0002714 True malignant central nervous system mesenchymal, non-meningothelial neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037740 MONDO:0003244 True malignant central nervous system mesenchymal, non-meningothelial neoplasm central nervous system mesenchymal non-meningothelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037740 MONDO:0024637 True malignant central nervous system mesenchymal, non-meningothelial neoplasm malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037743 MONDO:0003512 True mediastinal soft tissue cancer mediastinal mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037743 MONDO:0005843 True mediastinal soft tissue cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037743 MONDO:0024637 True mediastinal soft tissue cancer malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037745 MONDO:0006424 True fibromyxoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037746 MONDO:0001402 True malignant vaginal mixed epithelial and mesenchymal neoplasm vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037746 MONDO:0005853 True malignant vaginal mixed epithelial and mesenchymal neoplasm malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040500 MONDO:0019502 True glycosylphosphatidylinositol biosynthesis defect 16 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040501 MONDO:0020066 True ehlers-danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040502 MONDO:0008733 True glucocorticoid deficiency 5 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040503 MONDO:0007339 True blepharocheilodontic syndrome 2 blepharocheilodontic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040673 MONDO:0002087 True malignant peritoneal germ cell tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040673 MONDO:0003113 True malignant peritoneal germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040675 MONDO:0006209 True myofibroblastoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040677 MONDO:0004993 True invasive carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040678 MONDO:0006295 True infiltrating urothelial carcinoma malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040678 MONDO:0024337 True infiltrating urothelial carcinoma urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040678 MONDO:0040677 True infiltrating urothelial carcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040679 MONDO:0006295 True urothelial carcinoma malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040679 MONDO:0006474 True urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040679 MONDO:0024337 True urothelial carcinoma urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0041447 MONDO:0024880 True metastatic malignant neoplasm in the colon metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042486 MONDO:0011023 True polyposis syndrome, hereditary mixed, 1 hereditary mixed polyposis syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042487 MONDO:0004710 True uterine cervix carcinoma in situ uterus carcinoma in situ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042487 MONDO:0005131 True uterine cervix carcinoma in situ cervical carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042491 MONDO:0021230 True cervical squamous intraepithelial neoplasia uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042491 MONDO:0022394 True cervical squamous intraepithelial neoplasia cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042491 MONDO:0024475 True cervical squamous intraepithelial neoplasia squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042493 MONDO:0001059 True gastric non-hodgkin lymphoma gastric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042493 MONDO:0018908 True gastric non-hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042494 MONDO:0005105 True childhood malignant melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042494 MONDO:0006517 True childhood malignant melanoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042499 MONDO:0017615 True benign familial neonatal-infantile seizures 1 benign familial infantile epilepsy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042727 MONDO:0002601 True sacrococcygeal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042981 MONDO:0003803 True aortic valve stenosis aortic valve disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0015168 True microphthalmia microtia fetal akinesia arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0016073 True microphthalmia microtia fetal akinesia syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043143 MONDO:0043009 True microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043317 MONDO:0016367 True amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044200 MONDO:0015974 True T-B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044201 MONDO:0015974 True T+ B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044202 MONDO:0015427 True episodic kinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044204 MONDO:0009833 True Shwachman-Diamond syndrome 1 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044205 MONDO:0009833 True Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044206 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal recessive otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044207 MONDO:0009506 True specific granule deficiency 1 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044208 MONDO:0009506 True specific granule deficiency 2 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044211 MONDO:0005492 True idiopathic urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0044299 MONDO:0018940 True myasthenic syndrome, congenital, 22 congenital myasthenic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044300 MONDO:0016362 True familial adenomatous polyposis 4 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044300 MONDO:0021055 True familial adenomatous polyposis 4 classic familial adenomatous polyposis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044302 MONDO:0003847 True congenital heart defects, dysmorphic facial features, and intellectual developmental disorder hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044305 MONDO:0019287 True ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044306 MONDO:0015653 True neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044308 MONDO:0015229 True bardet-biedl syndrome 21 Bardet-Biedl syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044309 MONDO:0015253 True Diamond-Blackfan anemia 16 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044310 MONDO:0015253 True Diamond-Blackfan anemia 17 Diamond-Blackfan anemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044311 MONDO:0003847 True brachycephaly, trichomegaly, and developmental delay hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044313 MONDO:0019502 True intellectual disability, autosomal recessive 60 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044314 MONDO:0019200 True retinitis pigmentosa 78 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044317 MONDO:0019852 True premature ovarian failure 13 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044319 MONDO:0015159 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044319 MONDO:0015653 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044320 MONDO:0019200 True retinitis pigmentosa 79 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044325 MONDO:0019391 True Fanconi anemia, complementation group W Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044327 MONDO:0000447 True polycystic liver disease 4 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044328 MONDO:0018770 True short-rib thoracic dysplasia 20 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044332 MONDO:0015548 True childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044334 MONDO:0005070 True connective and soft tissue neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044335 MONDO:0000654 True benign soft tissue neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044335 MONDO:0006424 True benign soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044336 MONDO:0005008 True colorectal signet ring cell carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044336 MONDO:0005092 True colorectal signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044337 MONDO:0018078 True stromal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044406 MONDO:0019287 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044406 MONDO:0019942 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044619 MONDO:0016677 True propylthiouracil embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044621 MONDO:0015159 True 16p12.1p12.3 triplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044621 MONDO:0016949 True 16p12.1p12.3 triplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044622 MONDO:0020127 True EMILIN-1-related connective tissue disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044625 MONDO:0018993 True autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044628 MONDO:0016643 True six2-related frontonasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044629 MONDO:0015225 True congenital amyoplasia arthrogryposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044633 MONDO:0002429 True idiopathic pleuroparenchymal fibroelastosis idiopathic interstitial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044634 MONDO:0002254 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044634 MONDO:0003847 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044635 MONDO:0018795 True DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044637 MONDO:0015990 True infantile-onset generalized dyskinesia with orofacial involvement focal, segmental or multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044638 MONDO:0000536 True hypopharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044638 MONDO:0005216 True hypopharynx squamous cell carcinoma hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044641 MONDO:0015159 True 9q33.3q34.11 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044641 MONDO:0016908 True 9q33.3q34.11 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044642 MONDO:0019046 True c11orf73-related autosomal recessive hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044643 MONDO:0015159 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044643 MONDO:0020022 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044645 MONDO:0018881 True familial monosomy 7 syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044646 MONDO:0015159 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044646 MONDO:0024237 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044647 MONDO:0018943 True kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044648 MONDO:0015150 True kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044649 MONDO:0018234 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044649 MONDO:0019054 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0015363 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0018307 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044651 MONDO:0020046 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044656 MONDO:0017266 True epidermolytic nevus keratinopathic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044657 MONDO:0018993 True MME-related autosomal dominant Charcot Marie Tooth disease type 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044663 MONDO:0019268 True aquagenic palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044675 MONDO:0018230 True LRP5-related primary osteoporosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044682 MONDO:0015168 True MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044687 MONDO:0044685 True chronic relapsing inflammatory optic neuropathy autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044688 MONDO:0044685 True isolated optic neuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044689 MONDO:0044685 True recurrent idiopathic neuroretinitis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044690 MONDO:0044685 True optic perineuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044696 MONDO:0015159 True early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044699 MONDO:0015159 True SIN3A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044700 MONDO:0044699 True SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0018751 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0019755 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044702 MONDO:0020768 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044704 MONDO:0000536 True oropharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044704 MONDO:0044926 True oropharynx squamous cell carcinoma oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044705 MONDO:0000380 True paranasal sinus squamous cell carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044705 MONDO:0010150 True paranasal sinus squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044709 MONDO:0015604 True cochleovestibular dysplasia middle ear anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044710 MONDO:0010150 True lip and oral cavity squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044710 MONDO:0023644 True lip and oral cavity squamous cell carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044714 MONDO:0009637 True mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044717 MONDO:0016903 True 4q25 proximal deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044718 MONDO:0019046 True alkaline ceramidase 3 deficiency leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044719 MONDO:0017396 True erythema multiforme major toxic dermatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044720 MONDO:0020047 True cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044721 MONDO:0044200 True severe combined immunodeficiency due to LAT deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044723 MONDO:0017359 True 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044724 MONDO:0017359 True 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044725 MONDO:0021094 True combined immunodeficiency due to GINS1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0015962 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0017764 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome disorder of zinc metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044726 MONDO:0024237 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044727 MONDO:0005192 True pancreatic carcinoma with mixed differentiation exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044727 MONDO:0006182 True pancreatic carcinoma with mixed differentiation digestive system mixed adenoneuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0015150 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0018117 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044738 MONDO:0015159 True Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044739 MONDO:0019810 True Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044740 MONDO:0000521 True salivary gland squamous cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044740 MONDO:0017167 True salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044743 MONDO:0004669 True major salivary gland cancer salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044743 MONDO:0021368 True major salivary gland cancer neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044764 MONDO:0016717 True benign choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044764 MONDO:0021451 True benign choroid plexus neoplasm benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044767 MONDO:0004974 True childhood adrenal gland pheochromocytoma adrenal gland pheochromocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044767 MONDO:0021079 True childhood adrenal gland pheochromocytoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044768 MONDO:0001608 True vagus nerve paraganglioma vagus nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044768 MONDO:0006239 True vagus nerve paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044776 MONDO:0019852 True premature ovarian failure 10 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044777 MONDO:0019852 True premature ovarian failure 14 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044778 MONDO:0004952 True nodular lymphocyte predominant Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044783 MONDO:0003532 True solid papillary breast carcinoma breast papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044784 MONDO:0044335 True myxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044785 MONDO:0005012 True desmoplastic melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044785 MONDO:0006427 True desmoplastic melanoma spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044786 MONDO:0002116 True solid pseudopapillary neoplasm of the pancreas malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044787 MONDO:0010150 True nasal cavity and paranasal sinus squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044787 MONDO:0056819 True nasal cavity and paranasal sinus squamous cell carcinoma nasal cavity and paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044788 MONDO:0003210 True perihilar intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044789 MONDO:0003531 True digital papillary eccrine carcinoma papillary eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044792 MONDO:0005073 True large congenital melanocytic nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044793 MONDO:0044794 True spitz nevus benign melanocytic skin nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044794 MONDO:0005073 True benign melanocytic skin nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044795 MONDO:0044793 True epithelioid cell nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044796 MONDO:0044793 True spindle cell nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044797 MONDO:0044794 True desmoplastic nevus benign melanocytic skin nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044800 MONDO:0044793 True desmoplastic spitz nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044800 MONDO:0044797 True desmoplastic spitz nevus desmoplastic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044873 MONDO:0018881 True childhood myelodysplastic syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044877 MONDO:0018215 True paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044878 MONDO:0005040 True adult germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044879 MONDO:0024338 True pancreatic mucinous-cystic neoplasm mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044881 MONDO:0002334 True hematopoietic and lymphoid cell neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044884 MONDO:0006998 True tonsillar lymphoma tonsil cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044885 MONDO:0005106 True tonsillar lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044885 MONDO:0021513 True tonsillar lipoma benign neoplasm of tonsil UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044887 MONDO:0002571 True central nervous system non-hodgkin lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044889 MONDO:0018905 True high grade B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044906 MONDO:0000384 True bladder urothelial papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044906 MONDO:0003822 True bladder urothelial papilloma non-invasive bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044906 MONDO:0004041 True bladder urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044907 MONDO:0005096 True metastatic squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044907 MONDO:0024879 True metastatic squamous cell carcinoma metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044912 MONDO:0003544 True metastatic malignant neoplasm in the spinal cord spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044912 MONDO:0024880 True metastatic malignant neoplasm in the spinal cord metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044913 MONDO:0002236 True metastatic malignant neoplasm in the eye ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044913 MONDO:0024880 True metastatic malignant neoplasm in the eye metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044915 MONDO:0000521 True salivary duct carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044915 MONDO:0006176 True salivary duct carcinoma cribriform carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044916 MONDO:0002728 True extrarenal rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044916 MONDO:0006517 True extrarenal rhabdoid tumor childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044917 MONDO:0000873 True T-lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044917 MONDO:0003537 True T-lymphoblastic lymphoma precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044917 MONDO:0015760 True T-lymphoblastic lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044919 MONDO:0002367 True malignant renal pelvis neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044919 MONDO:0003719 True malignant renal pelvis neoplasm renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044923 MONDO:0018874 True acute myeloid leukemia with mutated NPM1 acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044925 MONDO:0005515 True oral cavity carcinoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044925 MONDO:0023644 True oral cavity carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044926 MONDO:0002038 True oropharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044926 MONDO:0004608 True oropharyngeal carcinoma oropharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044926 MONDO:0021345 True oropharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044937 MONDO:0006519 True rectal carcinoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044937 MONDO:0024331 True rectal carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044956 MONDO:0000380 True paranasal sinus mucoepidermoid carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044956 MONDO:0003036 True paranasal sinus mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044964 MONDO:0003036 True oral cavity mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044964 MONDO:0044925 True oral cavity mucoepidermoid carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044983 MONDO:0000654 True benign lipomatous neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044983 MONDO:0021354 True benign lipomatous neoplasm tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045052 MONDO:0000654 True benign osteogenic neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045052 MONDO:0045053 True benign osteogenic neoplasm osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045053 MONDO:0002616 True osteogenic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045055 MONDO:0004993 True glycogen-rich carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045056 MONDO:0016642 True grade II meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045059 MONDO:0004989 True cribriform carcinoma of breast breast carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045060 MONDO:0005023 True intraductal cribriform breast adenocarcinoma ductal breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045063 MONDO:0003175 True major salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045063 MONDO:0006284 True major salivary gland adenoid cystic carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045068 MONDO:0003175 True minor salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045069 MONDO:0000521 True minor salivary gland carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045069 MONDO:0021316 True minor salivary gland carcinoma malignant tumor of minor salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045070 MONDO:0002516 True digestive system melanoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045070 MONDO:0006320 True digestive system melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045071 MONDO:0000607 True mycosis fungoides variant primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0049221 MONDO:0001384 True myopia 26, X-linked, female-limited myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0049222 MONDO:0019181 True intellectual disability, X-linked 107 non-syndromic X-linked intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054550 MONDO:0012126 True avascular necrosis of femoral head, primary, 1 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054551 MONDO:0012126 True avascular necrosis of femoral head, primary, 2 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054559 MONDO:0005501 True congenital disorder of glycosylation, type IIq congenital disorder of glycosylation type II SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054559 MONDO:0017750 True congenital disorder of glycosylation, type IIq defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054560 MONDO:0011773 True anauxetic dysplasia 1 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054561 MONDO:0011773 True anauxetic dysplasia 2 anauxetic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054565 MONDO:0018770 True short-rib thoracic dysplasia 17 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054577 MONDO:0000009 True bleeding disorder, platelet-type, 21 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054581 MONDO:0007142 True Townes-Brocks syndrome 1 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054582 MONDO:0007142 True Townes-Brocks syndrome 2 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054588 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 2 Noonan syndrome-like disorder with loose anagen hair SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054601 MONDO:0017824 True pituitary adenoma 5, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054602 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis, 2 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054615 MONDO:0004983 True spermatogenic failure 18 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054636 MONDO:0015159 True Skraban-Deardorff syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054637 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054654 MONDO:0000732 True combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054665 MONDO:0017824 True pituitary adenoma 3, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054666 MONDO:0009299 True ovarian dysgenesis 5 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054669 MONDO:0020135 True pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054677 MONDO:0000732 True combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054680 MONDO:0016648 True epiphyseal dysplasia, multiple, 7 multiple epiphyseal dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054691 MONDO:0015517 True immunodeficiency, common variable, 14 common variable immunodeficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054695 MONDO:0018947 True myopathy, centronuclear, 6, with fiber-type disproportion centronuclear myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054696 MONDO:0021094 True immunodeficiency 53 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054697 MONDO:0021094 True immunodeficiency 11b with atopic dermatitis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054698 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 1 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054699 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054700 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 2 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054701 MONDO:0012455 True Kleefstra syndrome 2 Kleefstra syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054708 MONDO:0019200 True retinitis pigmentosa 80 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054716 MONDO:0016660 True microcephaly 19, primary, autosomal recessive autosomal recessive primary microcephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054722 MONDO:0000127 True geleophysic dysplasia 3 geleophysic dysplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054723 MONDO:0004983 True spermatogenic failure 19 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054724 MONDO:0004983 True spermatogenic failure 20 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054725 MONDO:0004983 True spermatogenic failure 21 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054726 MONDO:0004983 True spermatogenic failure 22 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054727 MONDO:0004983 True spermatogenic failure 23 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054728 MONDO:0004983 True spermatogenic failure 24 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054729 MONDO:0004983 True spermatogenic failure 25 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054730 MONDO:0004983 True spermatogenic failure 26 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054731 MONDO:0004983 True spermatogenic failure 27 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054732 MONDO:0004983 True spermatogenic failure 28 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054733 MONDO:0004983 True spermatogenic failure 29 spermatogenic failure SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054736 MONDO:0000141 True mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054737 MONDO:0009046 True Fraser syndrome 1 Fraser syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054738 MONDO:0009046 True Fraser syndrome 2 Fraser syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054743 MONDO:0000447 True polycystic liver disease 3 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054748 MONDO:0019391 True Fanconi anemia, complementation group S Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054761 MONDO:0016660 True microcephaly 20, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054763 MONDO:0018307 True neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054764 MONDO:0018307 True neurodegeneration with brain iron accumulation 8 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054765 MONDO:0007101 True amyloidosis, primary localized cutaneous, 3 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054770 MONDO:0015375 True orofaciodigital syndrome 18 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054771 MONDO:0015486 True keratoconus 9 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054776 MONDO:0020310 True epilepsy, familial focal, with variable foci 4 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054782 MONDO:0019046 True leukodystrophy, hypomyelinating, 15 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054785 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 6 fatal multiple mitochondrial dysfunctions syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054791 MONDO:0019046 True leukodystrophy, hypomyelinating, 16 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054794 MONDO:0016349 True hydrocephalus, congenital, 3, with brain anomalies congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054801 MONDO:0001115 True erythrocytosis, familial, 6 familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054802 MONDO:0001115 True erythrocytosis, familial, 7 familial polycythemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054804 MONDO:0016660 True microcephaly 21, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054805 MONDO:0016660 True microcephaly 22, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054806 MONDO:0016660 True microcephaly 23, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054813 MONDO:0006025 True Ehlers-Danlos syndrome, classic-like, 2 autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054813 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054817 MONDO:0019046 True leukodystrophy, hypomyelinating, 17 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054831 MONDO:0015452 True Coffin-Siris syndrome 7 Coffin-Siris syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054832 MONDO:0020364 True corneal dystrophy, posterior polymorphous, 4 posterior polymorphous corneal dystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054833 MONDO:0000426 True charcot-marie-tooth disease, axonal, type 2DD autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054833 MONDO:0018993 True charcot-marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease type 2 SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054835 MONDO:0013150 True classic dopamine transporter deficiency syndrome parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054838 MONDO:0024573 True cardiomyopathy, familial hypertrophic 27 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054846 MONDO:0000160 True epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054847 MONDO:0000160 True epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054849 MONDO:0005265 True inflammatory bowel disease 29 inflammatory bowel disease SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054850 MONDO:0009299 True ovarian dysgenesis 6 46 XX gonadal dysgenesis SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054852 MONDO:0019347 True peeling skin syndrome 6 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing loss, autosomal recessive SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054862 MONDO:0019852 True premature ovarian failure 15 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054865 MONDO:0016387 True encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056795 MONDO:0010595 True X-linked spermatogenic failure 1 Sertoli cell-only syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056804 MONDO:0000628 True benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056805 MONDO:0003250 True benign peripheral nerve granular cell tumor benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056806 MONDO:0005097 True non-small cell squamous lung carcinoma squamous cell lung carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056806 MONDO:0005233 True non-small cell squamous lung carcinoma non-small cell lung carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056813 MONDO:0004989 True hormone-resistant breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056814 MONDO:0005159 True hormone-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056815 MONDO:0006074 True liver adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056816 MONDO:0002120 True vulvar neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056816 MONDO:0005215 True vulvar neuroendocrine carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056817 MONDO:0006157 True rectal adenosquamous carcinoma colorectal adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056818 MONDO:0006074 True skin adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056819 MONDO:0002038 True nasal cavity and paranasal sinus carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056819 MONDO:0056820 True nasal cavity and paranasal sinus carcinoma nasal cavity and paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056820 MONDO:0005586 True nasal cavity and paranasal sinus neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060455 MONDO:0000425 True X-linked congenital hemolytic anemia X-linked disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060455 MONDO:0003689 True X-linked congenital hemolytic anemia familial hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060489 MONDO:0100249 True 46,XX sex reversal 4 46,XX testicular disorder of sex development SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060502 MONDO:0015159 True neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060549 MONDO:0003847 True congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060554 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 1 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060555 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 2 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060556 MONDO:0019755 True joint laxity, short stature, and myopia developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060564 MONDO:0015962 True HELIX syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060568 MONDO:0015159 True Pilarowski-Bjornsson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060583 MONDO:0003847 True platelet abnormalities with eosinophilia and immune-mediated inflammatory disease hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060585 MONDO:0015362 True neuronopathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060592 MONDO:0002254 True Sweeney-Cox syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060592 MONDO:0003847 True Sweeney-Cox syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060627 MONDO:0015159 True glycosylphosphatidylinositol biosynthesis defect 15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060631 MONDO:0002254 True Alkuraya-Kucinskas syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060631 MONDO:0003847 True Alkuraya-Kucinskas syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060732 MONDO:0010110 True tetraamelia syndrome 2 tetraamelia-multiple malformations syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060764 MONDO:0010110 True tetraamelia syndrome 1 tetraamelia-multiple malformations syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100036 MONDO:0005027 True variable age onset epilepsy epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100045 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 1 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100055 MONDO:0002581 True intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100060 MONDO:0002581 True congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100063 MONDO:0002604 True Pericytoma with t(7;12) pericytic neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100067 MONDO:0002581 True childhood spindle cell rhabdomyosarcoma spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100079 MONDO:0100062 True developmental and epileptic encephalopathy, 6 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100082 MONDO:0007893 True LEOPARD syndrome 1 Noonan syndrome with multiple lentigines SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100092 MONDO:0013981 True myoclonus, familial, 2 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100093 MONDO:0013981 True myoclonus, familial, 1 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100095 MONDO:0006025 True neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100096 MONDO:0020753 True COVID-19 Orthocoronavirinae infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100101 MONDO:0008824 True fetal akinesia deformation sequence 1 fetal akinesia deformation sequence SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100102 MONDO:0008824 True fetal akinesia deformation sequence 2 fetal akinesia deformation sequence SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100103 MONDO:0008824 True fetal akinesia deformation sequence 3 fetal akinesia deformation sequence SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100104 MONDO:0008824 True fetal akinesia deformation sequence 4 fetal akinesia deformation sequence SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100105 MONDO:0020496 True brain small vessel disease 3 familial porencephaly SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100115 MONDO:0002565 True acute flaccid myelitis myelitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100116 MONDO:0020753 True Middle East respiratory syndrome Orthocoronavirinae infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100119 MONDO:0800166 True Knobloch syndrome 2 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100135 MONDO:0100062 True Dravet syndrome developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100153 MONDO:0005071 True tubulinopathy nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100156 MONDO:0009853 True Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100157 MONDO:0009853 True Imerslund-Grasbeck syndrome type 2 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100163 MONDO:0005108 True COVID-19–associated multisystem inflammatory syndrome in children viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100164 MONDO:0016391 True permanent neonatal diabetes mellitus neonatal diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100165 MONDO:0100164 True permanent neonatal diabetes mellitus 1 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100186 MONDO:0016543 True GTP cyclohydrolase I deficiency with hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100211 MONDO:0006025 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100211 MONDO:0100210 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100212 MONDO:0015947 True IFAP syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100213 MONDO:0020605 True IFAP syndrome 1, with or without BRESHECK syndrome X-linked recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100213 MONDO:0100212 True IFAP syndrome 1, with or without BRESHECK syndrome IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100215 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 1 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100216 MONDO:0002254 True DICER1-related tumor predisposition syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100216 MONDO:0003847 True DICER1-related tumor predisposition hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100217 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 2 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100218 MONDO:0015168 True arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100219 MONDO:0100210 True growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100220 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 2 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100221 MONDO:0100212 True IFAP syndrome 2 IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100223 MONDO:0100133 True mitochondrial complex I deficiency, nuclear type mitochondrial complex I deficiency SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100224 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100244 MONDO:0003656 True paroxysmal nocturnal hemoglobinuria hemoglobinuria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100244 MONDO:0015610 True paroxysmal nocturnal hemoglobinuria acquired aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100247 MONDO:0003847 True multiple congenital anomalies-hypotonia-seizures syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100249 MONDO:0017576 True 46,XX testicular disorder of sex development 46,XX disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100250 MONDO:0003847 True 46,XX sex reversal 1 hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100250 MONDO:0100249 True 46,XX sex reversal 1 46,XX testicular disorder of sex development SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100251 MONDO:0018891 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100251 MONDO:0019052 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome inborn errors of metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100253 MONDO:0002254 True Roberts-SC phocomelia syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100253 MONDO:0006025 True Roberts-SC phocomelia syndrome autosomal recessive disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100255 MONDO:0000351 True adenosine kinase deficiency disorder of methionine catabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100280 MONDO:0000432 True Waldenstrom macroglobulinemia lymphoplasmacytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100280 MONDO:0017594 True Waldenstrom macroglobulinemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100281 MONDO:0100280 True macroglobulinemia, Waldenstrom, 1 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100290 MONDO:0015524 True colon serrated polyposis hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100290 MONDO:0021400 True colon serrated polyposis polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100291 MONDO:0004963 True early T cell progenitor acute lymphoblastic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100292 MONDO:0031415 True Carey-Fineman-Ziter syndrome 2 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100294 MONDO:0031230 True mitochondrial complex II deficiency, nuclear type 1 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100296 MONDO:0031421 True Olmsted syndrome 1 Olmsted syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100297 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100302 MONDO:0007872 True LADD syndrome 1 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100303 MONDO:0011870 True ichthyosis, annular epidermolytic 1 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100313 MONDO:0000490 True focal segmental glomerulosclerosis glomerulosclerosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100316 MONDO:0019171 True long QT syndrome 1 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100325 MONDO:0031169 True odontochondrodysplasia 1 odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100326 MONDO:0021181 True Glanzmann thrombasthenia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100338 MONDO:0002118 True urinary tract infection urinary system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100338 MONDO:0005550 True urinary tract infection infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100340 MONDO:0100339 True Friedreich ataxia 1 Friedreich ataxia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100342 MONDO:0002714 True malignant glioma central nervous system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100342 MONDO:0021042 True malignant glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100344 MONDO:0015231 True Bartter disease type 1 Bartter syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100345 MONDO:0019214 True lactose intolerance inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100349 MONDO:0015369 True COACH syndrome Joubert syndrome and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100350 MONDO:0015362 True neuronopathy, distal hereditary motor, type 5 neuronopathy, distal hereditary motor, autosomal dominant SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100352 MONDO:0044202 True episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100354 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 1 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100367 MONDO:0019755 True port-wine nevi-mega cisterna magna-hydrocephalus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100373 MONDO:0018874 True acute myeloid leukemia, inv(16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100374 MONDO:0018874 True acute myeloid leukemia, t(16;16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100375 MONDO:0018874 True acute myeloid leukemia, t(15;17)(q24;q21) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100377 MONDO:0018874 True acute myeloid leukemia, t(10;11)(p12;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100381 MONDO:0018874 True acute myeloid leukemia, t(6;11)(q27;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100382 MONDO:0018874 True acute myeloid leukemia, t(6;9)(p23;q34.1) acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100389 MONDO:0018874 True acute myeloid leukemia, Trisomy 8 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100395 MONDO:0018874 True acute myeloid leukemia, t(5;11)(q35;p15) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100396 MONDO:0018874 True acute myeloid leukemia, t(7;12)(q36;p13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100398 MONDO:0018874 True acute myeloid leukemia, inv(3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100399 MONDO:0018874 True acute myeloid leukemia, t(3;3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100404 MONDO:0018874 True acute myeloid leukemia, MLL gene rearrangement acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100407 MONDO:0018874 True acute myeloid leukemia, t(11;15)(p15;q35) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100409 MONDO:0018874 True acute myeloid leukemia, t(3;5)(q25;q34) acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100413 MONDO:0018874 True acute myeloid leukemia, biallelic CEBPA gene mutation acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100414 MONDO:0018874 True acute myeloid leukemia, CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100415 MONDO:0018874 True acute myeloid leukemia, FLT3 internal tandem duplication acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100422 MONDO:0018874 True acute myeloid leukemia, RUNX1 gene mutation acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100428 MONDO:0008890 True progressive bulbar palsy of childhood progressive bulbar palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100429 MONDO:0019072 True intrahepatic cholestasis of pregnancy intrahepatic cholestasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100431 MONDO:0005277 True migraine without aura migraine disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100436 MONDO:0005129 True cataract 2, multiple types cataract SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100452 MONDO:0000426 True RPE65-related dominant retinopathy autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100459 MONDO:0005372 True azoospermia male infertility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100462 MONDO:0018383 True short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100466 MONDO:0018973 True butterfly-shaped pigment dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100467 MONDO:0005081 True preeclampsia/eclampsia 1 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100480 MONDO:0015129 True autoimmune primary adrenal insufficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100490 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 1 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100510 MONDO:0005516 True spondyloepimetaphyseal dysplasia osteochondrodysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100512 MONDO:0018158 True mitochondrial DNA depletion syndrome, hepatocerebral form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100514 MONDO:0005140 True familial ovarian carcinoma ovarian carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100527 MONDO:0016357 True dysplastic cortical hyperostosis, Kozlowski-Tsuruta type dysplastic cortical hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100528 MONDO:0014805 True Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100534 MONDO:0006260 True SMARCB1-deficient kidney medullary carcinoma kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700088 MONDO:0015427 True paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700112 MONDO:0018677 True heterotaxy, visceral, 5, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700135 MONDO:0700134 True bovine leukemia bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700136 MONDO:0700134 True bovine protoporphyria bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700137 MONDO:0700134 True bovine lymphosarcoma bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700138 MONDO:0700134 True bovine rectal myxoma bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700141 MONDO:0700139 True canine melanoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700143 MONDO:0700139 True canine mammary carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700144 MONDO:0700139 True canine leukemia canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700145 MONDO:0700139 True canine lymphoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700147 MONDO:0700139 True canine histiocytic sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700148 MONDO:0700139 True canine transitional cell carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700149 MONDO:0700139 True canine sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700150 MONDO:0700139 True canine mastocytoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700151 MONDO:0700139 True canine glioma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700152 MONDO:0700139 True canine hepatocellular carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700153 MONDO:0700139 True canine lung adenocarcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700155 MONDO:0700139 True canine thyroid adenocarcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700157 MONDO:0700139 True canine oral squamous cell carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700158 MONDO:0700139 True canine pancreatic carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700159 MONDO:0700139 True canine acanthomatous epulis canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700160 MONDO:0700139 True canine mammary adenoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700161 MONDO:0700139 True canine gastrointestinal stromal tumor canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700163 MONDO:0700139 True canine Langerhans cell histiocytosis canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700164 MONDO:0700139 True canine nephroblastoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700166 MONDO:0700139 True canine transmissible venereal tumor canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700167 MONDO:0700139 True canine sebaceous gland epithelioma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700168 MONDO:0700141 True canine oral melanoma canine melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700169 MONDO:0700145 True canine cutaneous t-cell lymphoma canine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700191 MONDO:0700189 True chicken fibrosarcoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700192 MONDO:0700189 True chicken hepatoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700193 MONDO:0700189 True chicken monocytic leukemia chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700194 MONDO:0700189 True chicken lymphoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700219 MONDO:0024880 True neoplastic meningitis metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700226 MONDO:0005271 True food allergy allergic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800026 MONDO:0001292 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800026 MONDO:0800031 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800043 MONDO:0019698 True Stüve-Wiedemann syndrome 1 bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800043 MONDO:0031280 True Stüve-Wiedemann syndrome 1 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800044 MONDO:0019214 True congenital disorder of deglycosylation 1 inborn carbohydrate metabolic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800044 MONDO:0031376 True congenital disorder of deglycosylation 1 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800045 MONDO:0031384 True autoinflammatory syndrome, familial, Behcet-like 1 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800046 MONDO:0031432 True thyroid hormone metabolism, abnormal 1 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800047 MONDO:0031447 True macrothrombocytopenia, isolated, 1, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800104 MONDO:0031520 True immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800131 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800436 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800437 MONDO:0031415 True Carey-Fineman-Ziter syndrome 1 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800438 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 1 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800445 MONDO:0800444 True Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800448 MONDO:0019046 True leukoencephalopathy with vanishing white matter leukodystrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800449 MONDO:0015905 True lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800449 MONDO:0019245 True lysosomal acid lipase deficiency lysosomal lipid storage disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800452 MONDO:0800451 True congenital amegakaryocytic thrombocytopenia 1 congenital amegakaryocytic thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800455 MONDO:0800444 True Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850001 MONDO:0016295 True congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850053 MONDO:0019751 True F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850064 MONDO:0015356 True inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850065 MONDO:0019751 True neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850066 MONDO:0019751 True SAMD9L-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850072 MONDO:0015337 True non-syndromic unisutural craniosynostosis isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850073 MONDO:0015469 True non-syndromic unicoronal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850074 MONDO:0015469 True non-syndromic unilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850075 MONDO:0015469 True non-syndromic unifrontosphenoidal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850076 MONDO:0015469 True non-syndromic unisquamosal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850077 MONDO:0015469 True non-syndromic multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850078 MONDO:0015469 True non-syndromic non-specific multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850079 MONDO:0015469 True non-syndromic bilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850080 MONDO:0015469 True non-syndromic unicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850081 MONDO:0015469 True non-syndromic metopic and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850082 MONDO:0015469 True non-syndromic bicoronal and metopic craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850083 MONDO:0015469 True non-syndromic bicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850092 MONDO:0002254 True post-cardiac arrest syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850093 MONDO:0000411 True absence epilepsy electroclinical syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850097 MONDO:0020640 True autoimmune limbic encephalitis autoimmune encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850098 MONDO:0005372 True oligoasthenoteratozoospermia male infertility SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850101 MONDO:0005012 True spitzoid melanoma cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850104 MONDO:0019956 True paraneoplastic isolated brainstem encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850110 MONDO:0005012 True melanoma in congenital melanocytic nevus cutaneous melanoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850112 MONDO:0000430 True breast implant-associated anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850122 MONDO:0005061 True solid adenocarcinoma with mucin production lung adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850123 MONDO:0056804 True autonomic nervous system benign neoplasm benign neoplasm of peripheral nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850125 MONDO:0004992 True malignant adenoma cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850127 MONDO:0015798 True epithelioid inflammatory myofibroblastic sarcoma inflammatory myofibroblastic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850128 MONDO:0003150 True epididymis disease male reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850129 MONDO:0002516 True gastroesophageal cancer digestive system cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850130 MONDO:0004970 True gastroesophageal adenocarcinoma adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850144 MONDO:0005165 True germ cell benign neoplasm benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850149 MONDO:0002513 True nephroma kidney benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850150 MONDO:0005240 True kidney cortex disease kidney disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850151 MONDO:0001082 True lymph node carcinoma lymph node cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850151 MONDO:0004993 True lymph node carcinoma carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850152 MONDO:0000633 True auditory system benign neoplasm sensory organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850152 MONDO:0002409 True auditory system benign neoplasm auditory system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850154 MONDO:0004631 True tongue carcinoma tongue cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850156 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma MLL rearranged B-cell acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850157 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 B-cell acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850160 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IL3-IGH B-cell acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850161 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like B-cell acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850162 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IAMP21 B-cell acute lymphoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850170 MONDO:0001516 True spinal muscular atrophy type 0 spinal muscular atrophy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850196 MONDO:0007959 True medulloblastoma WNT activated medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850197 MONDO:0007959 True medulloblastoma SHH activated medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850198 MONDO:0007959 True medulloblastoma non-WNT/non-SHH medulloblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850199 MONDO:0003778 True NK cell deficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850200 MONDO:0003778 True T cell and NK cell immunodeficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850201 MONDO:0002254 True hereditary alpha tryptasemia syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850223 MONDO:0000603 True Libman-Sacks endocarditis autoimmune disorder of cardiovascular system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850223 MONDO:0005025 True Libman-Sacks endocarditis endocarditis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850225 MONDO:0016264 True autoimmune cholangitis autoimmune hepatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850230 MONDO:0005492 True chronic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850231 MONDO:0006591 True erythema nodosum panniculitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850257 MONDO:0004957 True mucinous pancreas adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850257 MONDO:0006047 True mucinous pancreas adenocarcinoma pancreatic adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850267 MONDO:0018872 True childhood acute megakaryoblastic leukemia acute megakaryoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850269 MONDO:0018874 True core binding factor acute myeloid leukemia acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850271 MONDO:0018872 True myeloid leukemia associated with down syndrome acute megakaryoblastic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850273 MONDO:0000521 True salivary gland mucinous adenocarcinoma salivary gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850273 MONDO:0004957 True salivary gland mucinous adenocarcinoma mucinous adenocarcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850281 MONDO:0000521 True mammary analog secretory carcinoma salivary gland carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850282 MONDO:0004979 True chronic asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850283 MONDO:0004979 True acute asthma asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850284 MONDO:0850282 True extrinsic asthma chronic asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850285 MONDO:0004765 True environmental induced asthma intrinsic asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850286 MONDO:0004765 True exercise-induced bronchoconstriction intrinsic asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850287 MONDO:0004765 True aspirin-induced respiratory disease intrinsic asthma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850289 MONDO:0005108 True human betaherpesvirus 5 infectious disease viral infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850292 MONDO:0002039 True subjective cognitive decline cognitive disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850295 MONDO:0004382 True acquired laryngomalacia laryngeal disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850301 MONDO:0019337 True pemphigoid autoimmune bullous skin disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850302 MONDO:0016642 True intracranial meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850303 MONDO:0016642 True supratentorial meningioma meningioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850306 MONDO:0005147 True latent autoimmune diabetes in adults type 1 diabetes mellitus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850312 MONDO:0021636 True anaplastic pleomorphic xanthoastrocytoma astrocytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850332 MONDO:0016684 True IDH-mutant anaplastic astrocytoma anaplastic astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850333 MONDO:0016684 True IDH-wildtype anaplastic astrocytoma anaplastic astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850335 MONDO:0018177 True IDH-wildtype glioblastoma glioblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850338 MONDO:0003473 True spinal ependymoma, MYCN-amplified spinal cord ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850339 MONDO:0016700 True posterior fossa ependymoma anaplastic ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850340 MONDO:0016700 True supratentorial ependymoma anaplastic ependymoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850345 MONDO:0003573 True lung pleomorphic carcinoma pleomorphic carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850346 MONDO:0005212 True oral rhabdomyosarcoma rhabdomyosarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850346 MONDO:0005515 True oral rhabdomyosarcoma oral cavity cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850347 MONDO:0002837 True bladder sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850348 MONDO:0004986 True bladder small cell carcinoma urinary bladder carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850349 MONDO:0016707 True astroblastoma, MN1-altered astroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850353 MONDO:0005159 True castration-resistant prostate carcinoma prostate carcinoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850368 MONDO:0019065 True immunoglobulin heavy-and-light chain amyloidosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850371 MONDO:0005010 True nonobstructive coronary artery disease coronary artery disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850388 MONDO:0004378 True childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850416 MONDO:0000568 True autoimmune epilepsy autoimmune disorder of central nervous system SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850416 MONDO:0005027 True autoimmune epilepsy epilepsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850417 MONDO:0018076 True tuberculous encephalopathy tuberculosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850418 MONDO:0018905 True diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850419 MONDO:0018905 True diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850420 MONDO:0006515 True acute necrotizing pancreatitis acute pancreatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850421 MONDO:0006515 True acute hemorrhagic pancreatitis acute pancreatitis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850426 MONDO:0004095 True high-grade B-cell lymphoma double-hit/triple-hit B-cell neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850445 MONDO:0000650 True benign peritoneal solitary fibrous tumor peritoneal benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850449 MONDO:0020322 True mixed phenotype acute leukemia with BCR-ABL1 acute biphenotypic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850450 MONDO:0020322 True mixed phenotype acute leukemia with MLL rearranged acute biphenotypic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850451 MONDO:0020322 True mixed phenotype acute leukemia, B/myeloid acute biphenotypic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850452 MONDO:0020322 True mixed phenotype acute leukemia,T/myeloid acute biphenotypic leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850459 MONDO:0000607 True primary cutaneous gamma-delta t-cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850461 MONDO:0000408 True neurobehavioral disorder with prenatal alcohol exposure fetal alcohol spectrum disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850468 MONDO:0018905 True BN2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850469 MONDO:0018905 True EZB diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850470 MONDO:0018905 True MCD diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850471 MONDO:0018905 True N1 diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850472 MONDO:0018905 True ST2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850473 MONDO:0018905 True A53 diffuse large B-cell lymphoma diffuse large B-cell lymphoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850492 MONDO:0018874 True acute myeloid leukemia, t(8;21)(q22; q22.1) acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850495 MONDO:0018874 True acute myeloid leukemia, t(1;22)(p13;q13) acute myeloid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850514 MONDO:0000426 True inclusion body myopathy and brain white matter abnormalities autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850514 MONDO:0000507 True inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with Paget disease of bone and frontotemporal dementia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850519 MONDO:0004736 True tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia inborn disorder of amino acid metabolism SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850618 MONDO:0005119 True injection anthrax anthrax infection SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850812 MONDO:0003778 True dendritic cell deficiency inborn error of immunity SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851095 MONDO:0000426 True KINSSHIP syndrome autosomal dominant disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851095 MONDO:0002254 True KINSSHIP syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851100 MONDO:0002433 True malignant olfactory nerve neoplasm malignant cranial nerve neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851102 MONDO:0000473 True pulmonary artery disease arterial disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851102 MONDO:0005275 True pulmonary artery disease lung disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851103 MONDO:0002263 True Bartholin's gland disease female reproductive system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0851105 MONDO:0000629 True cerebrovascular benign neoplasm cardiovascular organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858910 MONDO:0000812 True dropped head syndrome vertebral column disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858916 MONDO:0002109 True pituitary blastoma pituitary cancer SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858916 MONDO:0005565 True pituitary blastoma blastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858917 MONDO:0003164 True cauda equina neuroendocrine tumor cauda equina neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858926 MONDO:0002254 True developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858939 MONDO:0100342 True diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858940 MONDO:0021636 True infant-type hemispheric glioma astrocytic tumor SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858944 MONDO:0000628 True myxoid glioneuronal tumor central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858956 MONDO:0000628 True diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858957 MONDO:0000628 True multinodular and vacuolating neuronal tumor central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858958 MONDO:0016684 True high-grade astrocytoma with piloid features anaplastic astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858959 MONDO:0000628 True polymorphous low grade neuroepithelial tumor of the young central nervous system organ benign neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858960 MONDO:0003257 True spindle cell oncocytoma posterior pituitary gland neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858966 MONDO:0000640 True central nervous system tumor with bcor internal tandem duplication central nervous system primitive neuroectodermal neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858967 MONDO:0002216 True primary intracranial sarcoma, DICER1-mutant brain sarcoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858974 MONDO:0002254 True breast implant illness syndromic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858974 MONDO:0002657 True breast implant illness breast disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858989 MONDO:0015150 True autosomal recessive spastic paraplegia type 84 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858990 MONDO:0015150 True autosomal recessive spastic paraplegia type 85 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858991 MONDO:0015150 True autosomal recessive spastic paraplegia type 86 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858992 MONDO:0019064 True autosomal recessive spastic paraplegia type 87 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858998 MONDO:0015159 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858998 MONDO:0018230 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0858999 MONDO:0015159 True KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859001 MONDO:0018354 True CPE-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859002 MONDO:0015159 True intellectual disability-early-onset cataract-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859003 MONDO:0019236 True PAICS deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859005 MONDO:0018234 True preaxial digit brachydactyly-webbed fingers dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859006 MONDO:0018234 True proximal femoral focal deficiency dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859007 MONDO:0019289 True mosaic Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859008 MONDO:0015356 True neurofibromatosis/schwannomatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859086 MONDO:0019181 True intellectual developmental disorder, X-linked 110 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859160 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 22 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859171 MONDO:0003847 True Luo-Schoch-Yamamoto syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859192 MONDO:0031037 True cerebral cavernous malformation 4 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859197 MONDO:0003847 True intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859208 MONDO:0003847 True Hengel-Maroofian-Schols syndrome hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859228 MONDO:0000732 True combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859234 MONDO:0015977 True agammaglobulinemia 8b, autosomal recessive agammaglobulinemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859237 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859242 MONDO:0019046 True leukodystrophy, hypomyelinating, 24 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859245 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859264 MONDO:0019952 True congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859279 MONDO:0015363 True spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859280 MONDO:0003847 True developmental delay, hypotonia, and impaired language hereditary disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859300 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859308 MONDO:0019200 True retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859309 MONDO:0019064 True spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859311 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859314 MONDO:0100062 True developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859319 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859320 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 39 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859321 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859323 MONDO:0000732 True combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859325 MONDO:0100062 True developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859327 MONDO:0100062 True developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859328 MONDO:0018100 True hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859329 MONDO:0000141 True mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859330 MONDO:0014769 True oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859332 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859333 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859334 MONDO:0020380 True spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859335 MONDO:0019952 True congenital myopathy 15 congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859353 MONDO:0016575 True ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859354 MONDO:0031432 True thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859356 MONDO:0005501 True congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859357 MONDO:0005501 True congenital disorder of glycosylation, type IIz congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859358 MONDO:0016333 True cardiomyopathy, dilated, 2H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859360 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859362 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859363 MONDO:0019064 True spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859364 MONDO:0004983 True spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859366 MONDO:0019587 True hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859367 MONDO:0019200 True retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859372 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859373 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 78 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859374 MONDO:0019588 True hearing loss, autosomal recessive 120 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859378 MONDO:0019046 True leukodystrophy, hypomyelinating, 25 leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859379 MONDO:0019313 True lymphatic malformation 13 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859380 MONDO:0044202 True episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859381 MONDO:0016333 True cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859382 MONDO:0005129 True cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859477 MONDO:0004983 True spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859478 MONDO:0004983 True spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859514 MONDO:0019952 True congenital myopathy 18 congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859515 MONDO:0019952 True congenital myopathy 10b, mild variant congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859517 MONDO:0019952 True congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859518 MONDO:0019046 True leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859520 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859521 MONDO:0014769 True oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859522 MONDO:0004983 True spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859523 MONDO:0019952 True congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859524 MONDO:0019587 True hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859525 MONDO:0019587 True hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859526 MONDO:0021094 True immunodeficiency 109 with lymphoproliferation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859527 MONDO:0019587 True hearing loss, autosomal dominant 88 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859528 MONDO:0019587 True hearing loss, autosomal dominant 89 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859529 MONDO:0005144 True amyotrophic lateral sclerosis 27, juvenile familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859564 MONDO:0859390 True epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859565 MONDO:0020290 True atrioventricular septal defect familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859567 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859568 MONDO:0031166 True macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859569 MONDO:0031646 True braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859570 MONDO:0031646 True braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859571 MONDO:0005711 True diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859572 MONDO:0031323 True cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859573 MONDO:0031615 True bent bone dysplasia syndrome 2 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859574 MONDO:0011870 True ichthyosis, annular epidermolytic, 2 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859575 MONDO:0000141 True Atelis syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859575 MONDO:0859393 True Atelis syndrome 1 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859576 MONDO:0000141 True Atelis syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859576 MONDO:0859393 True Atelis syndrome 2 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859577 MONDO:0007872 True lacrimoauriculodentodigital syndrome 2 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859578 MONDO:0007872 True lacrimoauriculodentodigital syndrome 3 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859588 MONDO:0018855 True keratosis pilaris atrophicans faciei keratosis pilaris atrophicans SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859591 MONDO:0021637 True childhood low-grade glioma low grade glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859592 MONDO:0016696 True IDH-mutant and 1p/19q-codeleted oligodendroglioma anaplastic oligodendroglioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859597 MONDO:0002900 True cns neuroblastoma with FOXR2 activation cerebral neuroblastoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859598 MONDO:0017858 True erythroleukemia acute erythroid leukemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859614 MONDO:0021637 True diffuse low-grade glioma, MAPK pathway–altered low grade glioma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859615 MONDO:0016686 True diffuse astrocytoma, MYB- or MYBL1-altered diffuse astrocytoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859689 MONDO:0000385 True hepatobiliary benign neoplasm benign digestive system neoplasm SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859690 MONDO:0850125 True malignant cystadenoma malignant adenoma SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859692 MONDO:0016593 True immune-mediated cerebellar ataxia acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859747 MONDO:0019466 True grade I lymphomatoid granulomatosis lymphomatoid granulomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859748 MONDO:0019466 True grade II lymphomatoid granulomatosis lymphomatoid granulomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859749 MONDO:0019466 True grade III lymphomatoid granulomatosis lymphomatoid granulomatosis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859761 MONDO:0859000 True SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859762 MONDO:0859000 True SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859763 MONDO:0859008 True mosaic neurofibromatosis type 1 neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859764 MONDO:0859008 True mosaic NF2-related schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859765 MONDO:0859008 True mosaic schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957111 MONDO:0019119 True neurological muscular channelopathy due to a genetic sodium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957112 MONDO:0019119 True neurological muscular channelopathy due to a genetic chloride channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957113 MONDO:0019119 True neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957114 MONDO:0019119 True neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957115 MONDO:0019119 True neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957202 MONDO:0004983 True spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957203 MONDO:0019181 True intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957208 MONDO:0013099 True pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957215 MONDO:0019952 True congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957216 MONDO:0019852 True premature ovarian failure 21 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957217 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 12 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957220 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 17 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957221 MONDO:0019064 True spastic paraplegia 70, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957224 MONDO:0019952 True congenital myopathy 21 with early respiratory failure congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957228 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957229 MONDO:0021094 True hatipoglu immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957230 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 18 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957231 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 19 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957240 MONDO:0015993 True cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957247 MONDO:0019952 True congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957248 MONDO:0100062 True developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957249 MONDO:0004983 True spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957250 MONDO:0004983 True spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957252 MONDO:0016575 True ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957253 MONDO:0000824 True diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957254 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957255 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957261 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957262 MONDO:0019026 True osteopetrosis, autosomal recessive 9 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957263 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957264 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 3 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957265 MONDO:0019952 True congenital myopathy 22B, severe fetal congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957270 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 28 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957274 MONDO:0019064 True spastic paraplegia 89, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957278 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 20 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957281 MONDO:0018958 True nemaline myopathy 5B, autosomal recessive, childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957382 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957385 MONDO:0044807 True dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957388 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 3 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957396 MONDO:0016575 True ciliary dyskinesia, primary, 51 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957397 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 72 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957421 MONDO:0006009 True borna virus encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957426 MONDO:0018037 True autosomal recessive hyper-IgE syndrome hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957442 MONDO:0100309 True autosomal recessive ataxia due to PEX16 deficiency hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957443 MONDO:0100309 True autosomal recessive ataxia due to PEX2 deficiency hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957451 MONDO:0017077 True non-terminal myelocystocele myelocystocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957453 MONDO:0019773 True true myelomeningocele myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957454 MONDO:0019773 True hemi-myelomeningocele myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957456 MONDO:0016367 True classical dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957458 MONDO:0016367 True adermatopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957461 MONDO:0018076 True primary tuberculous lymphadenitis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957463 MONDO:0018076 True primary bone and joint tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957465 MONDO:0018076 True multifocal tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957466 MONDO:0018076 True primary tuberculosis of the digestive system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957476 MONDO:0019356 True isolated persistent urogenital sinus urogenital tract malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957495 MONDO:0957097 True hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957496 MONDO:0019181 True intellectual developmental disorder, X-linked 112 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957530 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957533 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 3 leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957534 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 4, remitting leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957535 MONDO:0021094 True immunodeficiency 112 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957537 MONDO:0000732 True combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957538 MONDO:0005144 True amyotrophic lateral sclerosis 28 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957539 MONDO:0044807 True dystonia 22, juvenile-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957540 MONDO:0005501 True congenital disorder of glycosylation, type IIaa congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957542 MONDO:0044807 True dystonia 22, adult-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957543 MONDO:0000107 True auriculocondylar syndrome 4 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957544 MONDO:0000107 True auriculocondylar syndrome 2B auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957545 MONDO:0016333 True cardiomyopathy, dilated, 2I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957556 MONDO:0017864 True congenital pulmonary vein atresia congenital pulmonary veins atresia or stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957572 MONDO:0100241 True thrombocytopenia 9 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957576 MONDO:0005180 True parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957578 MONDO:0100241 True thrombocytopenia 10 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957580 MONDO:0000009 True bleeding disorder, platelet-type, 25 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957584 MONDO:0004983 True spermatogenic failure 85 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957593 MONDO:0004983 True spermatogenic failure 86 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957594 MONDO:0004983 True spermatogenic failure 87 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957595 MONDO:0000159 True Ziegler-Huang syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957780 MONDO:0100062 True developmental and epileptic encephalopathy 111 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957788 MONDO:0019064 True spastic paraplegia 18a, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957809 MONDO:0018542 True neutropenia, severe congenital, 10, autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957812 MONDO:0100062 True developmental and epileptic encephalopathy 112 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957819 MONDO:0019942 True arthrogryposis, distal, type 12 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957820 MONDO:0005501 True congenital disorder of glycosylation, type IIb congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957821 MONDO:0004983 True spermatogenic failure 88 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957822 MONDO:0019852 True premature ovarian failure 22 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957824 MONDO:0043878 True optic atrophy 14 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957825 MONDO:0019588 True deafness, autosomal recessive 121 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957870 MONDO:0800448 True leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957871 MONDO:0800448 True leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957872 MONDO:0800448 True leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957873 MONDO:0800448 True leukoencephalopathy with vanishing white matter 5 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957874 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 9 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957875 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 11 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957876 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 10 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957920 MONDO:0021094 True immunodeficiency 113 with autoimmunity and autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957921 MONDO:0016033 True Cornelia de Lange syndrome 6 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957922 MONDO:0016575 True ciliary dyskinesia, primary, 52 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957928 MONDO:0005349 True otosclerosis 11 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957935 MONDO:0043878 True optic atrophy 15 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957953 MONDO:0020732 True Garg-Mishra progeroid syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957954 MONDO:0019313 True lymphatic malformation 14 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957955 MONDO:0021094 True immunodeficiency 114, folate-responsive immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957958 MONDO:0019064 True spastic paraplegia 72b, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957961 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 21 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957978 MONDO:0043878 True optic atrophy 16 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957981 MONDO:0021094 True immunodeficiency 115 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957984 MONDO:0016333 True cardiomyopathy, dilated, 2j familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957988 MONDO:0019019 True osteogenesis imperfecta, type 23 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957991 MONDO:0016575 True ciliary dyskinesia, primary, 53 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957992 MONDO:0000732 True combined oxidative phosphorylation deficiency 59 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957993 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957999 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958000 MONDO:0100241 True thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958009 MONDO:0017845 True spastic ataxia 10, autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958011 MONDO:0021094 True immunodeficiency 117 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958012 MONDO:0018307 True neurodegeneration with brain iron accumulation 9 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958013 MONDO:0015517 True immunodeficiency, common variable, 15 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958017 MONDO:0018542 True neutropenia, severe congenital, 11, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958018 MONDO:0019046 True leukodystrophy, hypomyelinating, 27 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958022 MONDO:0020088 True lipodystrophy, familial partial, type 8 familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958023 MONDO:0006536 True lipodystrophy, congenital generalized, type 5 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0015770 True Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000008 MONDO:0023910 True Martsolf syndrome 1 Martsolf syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000010 MONDO:0007179 True antiphospholipid syndrome autoimmune disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000011 MONDO:0000858 True visceral neuropathy, familial, 1, autosomal recessive neuronal intestinal dysplasia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000011 MONDO:0017574 True visceral neuropathy, familial, 1, autosomal recessive chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000011 MONDO:0023961 True visceral neuropathy, familial, 1, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000012 MONDO:0024189 True neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000013 MONDO:0024193 True portal hypertension, noncirrhotic, 1 portal hypertension, noncirrhotic UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000015 MONDO:0010765 True 46,XY sex reversal 11 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000018 MONDO:0004900 True benign paroxysmal positional vertigo peripheral vertigo SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000024 MONDO:0017979 True autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD autoimmune lymphoproliferative syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006980 MONDO:0002372 True struma ovarii ovarian monodermal and highly specialized teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006981 MONDO:0000565 True subacute bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006983 MONDO:0002254 True subclavian steal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006986 MONDO:0005397 True substernal goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006987 MONDO:0042981 True subvalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006989 MONDO:0004508 True suppurative periapical periodontitis periapical periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006990 MONDO:0020283 True suppurative uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006993 MONDO:0005009 True systolic heart failure congestive heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006994 MONDO:0006997 True tarsal tunnel syndrome tibial neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006995 MONDO:0002545 True tethered spinal cord syndrome spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006997 MONDO:0001397 True tibial neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006998 MONDO:0021250 True tonsil cancer tonsil neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006999 MONDO:0006858 True tooth disorder mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007002 MONDO:0003569 True trochlear nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007002 MONDO:0003620 True trochlear nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007004 MONDO:0000605 True type III hypersensitivity disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007006 MONDO:0001397 True ulnar neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007008 MONDO:0001106 True uremia kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007009 MONDO:0001926 True ureterolithiasis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007011 MONDO:0019338 True uveoparotid fever sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007012 MONDO:0018686 True variant Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007013 MONDO:0005362 True vasculogenic impotence erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007015 MONDO:0004796 True viral meningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007017 MONDO:0004860 True vitreous detachment vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007018 MONDO:0002187 True vulvitis vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007020 MONDO:0005560 True Wernicke encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007022 MONDO:0001110 True xanthogranulomatous pyelonephritis chronic pyelonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007027 MONDO:0013209 True metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007029 MONDO:0000426 True branchio-oto-renal syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007029 MONDO:0002254 True branchio-oto-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007029 MONDO:0015161 True branchio-oto-renal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007030 MONDO:0000426 True autosomal dominant Aarskog syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007030 MONDO:0021005 True autosomal dominant Aarskog syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007032 MONDO:0002254 True prune belly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007032 MONDO:0018559 True prune belly syndrome fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007033 MONDO:0002782 True abducens nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007033 MONDO:0020594 True abducens nerve palsy abducens nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007034 MONDO:0018234 True Adams-Oliver syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007034 MONDO:0019054 True Adams-Oliver syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007036 MONDO:0002254 True Achard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007037 MONDO:0005516 True Achondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007037 MONDO:0019685 True Achondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007042 MONDO:0019796 True Saethre-Chotzen syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007044 MONDO:0019797 True Acrodysostosis 1 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007045 MONDO:0015159 True acrofacial dysostosis, Catania type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007045 MONDO:0018237 True acrofacial dysostosis, Catania type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007046 MONDO:0006566 True hereditary papulotranslucent acrokeratoderma keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007047 MONDO:0017675 True punctate palmoplantar keratoderma type III punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007048 MONDO:0006566 True acrokeratosis verruciformis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007052 MONDO:0017824 True growth hormone secreting pituitary adenoma 1 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007053 MONDO:0100170 True restless legs syndrome, susceptibility to, 1 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007055 MONDO:0019695 True Acromicric dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007057 MONDO:0000426 True Acroosteolysis dominant type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007058 MONDO:0015929 True Acropectorovertebral dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007059 MONDO:0015161 True acrorenal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007060 MONDO:0004983 True spermatogenic failure 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007060 MONDO:0015746 True spermatogenic failure 6 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007062 MONDO:0018234 True adactylia, unilateral dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007062 MONDO:0019713 True adactylia, unilateral non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0019236 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007064 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007068 MONDO:0004736 True adenylosuccinate lyase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007068 MONDO:0019236 True adenylosuccinate lyase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007070 MONDO:0006574 True adiposis dolorosa lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007070 MONDO:0019296 True adiposis dolorosa subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007072 MONDO:0000426 True ADULT syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007072 MONDO:0018234 True ADULT syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007072 MONDO:0019054 True ADULT syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007072 MONDO:0019287 True ADULT syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007073 MONDO:0017139 True Hypoglossia-hypodactyly syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007073 MONDO:0019054 True Hypoglossia-hypodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007074 MONDO:0003900 True ainhum connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007077 MONDO:0019290 True Tietz syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007078 MONDO:0019695 True pseudohypoparathyroidism type 1A acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007078 MONDO:0019992 True pseudohypoparathyroidism type 1A pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007080 MONDO:0016525 True glucocorticoid-remediable aldosteronism familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007082 MONDO:0000005 True alopecia areata 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007083 MONDO:0017666 True autosomal dominant palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007083 MONDO:0019287 True autosomal dominant palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007084 MONDO:0000005 True familial focal alopecia alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007086 MONDO:0000426 True autosomal dominant Alport syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007086 MONDO:0018965 True autosomal dominant Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007087 MONDO:0016241 True alternating hemiplegia of childhood 1 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007092 MONDO:0000426 True amelogenesis imperfecta type 1B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007093 MONDO:0019507 True hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007095 MONDO:0019287 True ameloonychohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007097 MONDO:0018102 True Finnish type amyloidosis corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007097 MONDO:0018634 True Finnish type amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007097 MONDO:0020127 True Finnish type amyloidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007098 MONDO:0005620 True ACys amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007099 MONDO:0018634 True familial visceral amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007100 MONDO:0018634 True familial amyloid neuropathy hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007100 MONDO:0020127 True familial amyloid neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007101 MONDO:0015301 True familial primary localized cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007103 MONDO:0005144 True amyotrophic lateral sclerosis type 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007105 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007105 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007108 MONDO:0000405 True anal canal carcinoma anal canal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007108 MONDO:0003199 True anal canal carcinoma anal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007108 MONDO:0018516 True anal canal carcinoma epithelial tumor of anal canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007109 MONDO:0019403 True congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007110 MONDO:0015253 True Diamond-Blackfan anemia 1 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007111 MONDO:0016483 True aneurysm, intracranial berry type 1 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007112 MONDO:0019512 True interventricular septum aneurysm congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007113 MONDO:0002254 True Angelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007114 MONDO:0019695 True Angel-shaped phalango-epiphyseal dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007116 MONDO:0019755 True hereditary neurocutaneous angioma developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007118 MONDO:0006527 True isolated anhidrosis with normal sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007118 MONDO:0019296 True isolated anhidrosis with normal sweat glands subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007118 MONDO:0021154 True isolated anhidrosis with normal sweat glands dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:0018234 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007124 MONDO:0019054 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:0019287 True ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007125 MONDO:0001165 True ankyloglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007126 MONDO:0024512 True spondyloarthropathy, susceptibility to, 1 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007129 MONDO:0005486 True tooth agenesis, selective, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007130 MONDO:0017705 True congenital total pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007131 MONDO:0019287 True anonychia with flexural pigmentation ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007134 MONDO:0018234 True Cooks syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007134 MONDO:0019054 True Cooks syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007137 MONDO:0018751 True isolated congenital anosmia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007138 MONDO:0019503 True anterior segment dysgenesis 1 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007142 MONDO:0000426 True Townes-Brocks syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007142 MONDO:0002254 True Townes-Brocks syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007142 MONDO:0015161 True Townes-Brocks syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007142 MONDO:0019054 True Townes-Brocks syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007143 MONDO:0015159 True aortic arch anomaly-facial dysmorphism-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007145 MONDO:0019294 True aplasia cutis congenita mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007147 MONDO:0005296 True obstructive sleep apnea syndrome sleep apnea syndrome SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007150 MONDO:0001515 True arcus senilis corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007152 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007157 MONDO:0015240 True arthrogryposis, distal, type 1A digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007158 MONDO:0019942 True arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007159 MONDO:0019942 True arthrogryposis-like hand anomaly-sensorineural deafness syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007160 MONDO:0019354 True Stickler syndrome type 1 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007160 MONDO:0022800 True Stickler syndrome type 1 type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007161 MONDO:0004983 True spermatogenic failure 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007163 MONDO:0016227 True episodic ataxia type 2 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007164 MONDO:0017846 True spastic ataxia 1 autosomal dominant spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007165 MONDO:0017846 True spastic ataxia 7 autosomal dominant spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007167 MONDO:0000389 True atelosteogenesis type I atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007167 MONDO:0019690 True atelosteogenesis type I filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007168 MONDO:0000389 True atelosteogenesis type III atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007168 MONDO:0019690 True atelosteogenesis type III filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007172 MONDO:0006664 True atrial septal defect 1 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007173 MONDO:0006664 True atrial septal defect 7 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007174 MONDO:0002254 True Lown-Ganong-Levine syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007179 MONDO:0005046 True autoimmune disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007182 MONDO:0015548 True Machado-Joseph disease Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007182 MONDO:0019792 True Machado-Joseph disease autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007184 MONDO:0000005 True alopecia, androgenetic, 1 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007187 MONDO:0000426 True nevoid basal cell carcinoma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007187 MONDO:0015356 True nevoid basal cell carcinoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007187 MONDO:0019755 True nevoid basal cell carcinoma syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007193 MONDO:0005388 True primary biliary cholangitis 1 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007194 MONDO:0003803 True familial bicuspid aortic valve aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007197 MONDO:0006026 True bladder diverticulum urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007198 MONDO:0015161 True Ascher syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007200 MONDO:0015159 True blepharonasofacial malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007201 MONDO:0008537 True blepharophimosis, ptosis, and epicanthus inversus syndrome telecanthus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007203 MONDO:0015356 True blue rubber bleb nevus hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007203 MONDO:0019293 True blue rubber bleb nevus skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007204 MONDO:0016085 True Cole-Carpenter syndrome 1 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007205 MONDO:0018230 True diaphyseal medullary stenosis-bone malignancy syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007205 MONDO:0019060 True diaphyseal medullary stenosis-bone malignancy syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007207 MONDO:0019287 True Böök syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007208 MONDO:0005516 True Boomerang dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007208 MONDO:0019690 True Boomerang dysplasia filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007209 MONDO:0019698 True Weismann-Netter syndrome bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007211 MONDO:0002254 True brachydactyly-arterial hypertension syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007211 MONDO:0018234 True brachydactyly-arterial hypertension syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007211 MONDO:0019054 True brachydactyly-arterial hypertension syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007212 MONDO:0016432 True brachydactyly-long thumb syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007213 MONDO:0021004 True Ballard syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007214 MONDO:0019054 True brachydactyly-preaxial hallux varus syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007215 MONDO:0021004 True brachydactyly type A1 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007216 MONDO:0021004 True brachydactyly type A2 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007217 MONDO:0021004 True brachydactyly type A3 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007218 MONDO:0021004 True brachydactyly type A4 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007219 MONDO:0019696 True Osebold-Remondini syndrome acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007219 MONDO:0021004 True Osebold-Remondini syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007220 MONDO:0019676 True brachydactyly type B1 brachydactyly type B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007221 MONDO:0021004 True brachydactyly type C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007222 MONDO:0021004 True brachydactyly type D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007225 MONDO:0018234 True fibular aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007225 MONDO:0019054 True fibular aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007226 MONDO:0015159 True brachydactyly-nystagmus-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007230 MONDO:0019054 True Brachymorphism-onychodysplasia-dysphalangism syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0015161 True brachytelephalangy-dysmorphism-Kallmann syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0015770 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0018234 True brachytelephalangy-dysmorphism-Kallmann syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007231 MONDO:0019054 True brachytelephalangy-dysmorphism-Kallmann syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007232 MONDO:0015262 True autosomal dominant brachyolmia brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007232 MONDO:0018240 True autosomal dominant brachyolmia TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007233 MONDO:0015476 True second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007235 MONDO:0000426 True branchiooculofacial syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007235 MONDO:0015161 True branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007236 MONDO:0007029 True branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007239 MONDO:0017266 True epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007243 MONDO:0017343 True Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007243 MONDO:0017595 True Burkitt lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007244 MONDO:0002614 True Caffey disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007244 MONDO:0019702 True Caffey disease neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007245 MONDO:0019289 True cafe au lait spots, multiple hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007248 MONDO:0017672 True hereditary painful callosities focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007251 MONDO:0005516 True campomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007251 MONDO:0019698 True campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007252 MONDO:0015161 True Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007254 MONDO:0003274 True breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007254 MONDO:0021100 True breast cancer breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007256 MONDO:0004970 True hepatocellular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007257 MONDO:0015279 True candidiasis, familial, 1 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007259 MONDO:0015159 True craniofaciofrontodigital syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007265 MONDO:0015280 True cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007266 MONDO:0024573 True hypertrophic cardiomyopathy 2 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007267 MONDO:0024573 True hypertrophic cardiomyopathy 3 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007268 MONDO:0024573 True hypertrophic cardiomyopathy 4 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007269 MONDO:0016333 True dilated cardiomyopathy 1A familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007270 MONDO:0016340 True cardiomyopathy, familial restrictive, 1 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007272 MONDO:0017758 True hereditary hypercarotenemia and vitamin A deficiency disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007273 MONDO:0000448 True paragangliomas 4 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007275 MONDO:0003615 True carpal tunnel syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007277 MONDO:0015161 True cataract-aberrant oral frenula-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007281 MONDO:0005129 True cataract 4 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007282 MONDO:0005129 True cataract 29 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007285 MONDO:0005129 True cataract 1 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007293 MONDO:0017570 True leukocyte adhesion deficiency 1 leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007295 MONDO:0000414 True childhood epilepsy with centrotemporal spikes childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007295 MONDO:0017704 True childhood epilepsy with centrotemporal spikes familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007296 MONDO:0019793 True spinocerebellar ataxia type 31 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007297 MONDO:0005620 True ADan amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007297 MONDO:0018591 True ADan amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007298 MONDO:0019792 True spinocerebellar ataxia type 29 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007301 MONDO:0002254 True cerebrocostomandibular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007306 MONDO:0001029 True Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007307 MONDO:0019011 True Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007308 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007309 MONDO:0016950 True Charcot-Marie-Tooth disease type 1A partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007309 MONDO:0019011 True Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007311 MONDO:0019011 True Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007315 MONDO:0000426 True cherubism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007315 MONDO:0015161 True cherubism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0019751 True cherubism autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007316 MONDO:0018075 True Chiari malformation type I neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007318 MONDO:0015161 True Alagille syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007321 MONDO:0000426 True autosomal dominant chondrodysplasia punctata autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007321 MONDO:0002254 True autosomal dominant chondrodysplasia punctata syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007327 MONDO:0018637 True chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase familial chylomicronemia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007330 MONDO:0018234 True congenital pseudoarthrosis of clavicle dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007334 MONDO:0017435 True autosomal dominant popliteal pterygium syndrome popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007335 MONDO:0000358 True orofacial cleft 1 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007336 MONDO:0016064 True isolated cleft palate cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007337 MONDO:0015161 True cleft palate-lateral synechia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007338 MONDO:0016064 True cleft soft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007339 MONDO:0000426 True blepharocheilodontic syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007339 MONDO:0015161 True blepharocheilodontic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007339 MONDO:0019287 True blepharocheilodontic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007339 MONDO:0020161 True blepharocheilodontic syndrome congenital ectropion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007340 MONDO:0005516 True cleidocranial dysplasia 1 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007340 MONDO:0018230 True cleidocranial dysplasia 1 skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007341 MONDO:0018230 True cleidorhizomelic syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007343 MONDO:0019284 True isolated congenital digital clubbing inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007345 MONDO:0021147 True aorta coarctation disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007349 MONDO:0018768 True familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007352 MONDO:0000426 True renal coloboma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007352 MONDO:0002254 True renal coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007354 MONDO:0001834 True coloboma of optic nerve visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007355 MONDO:0003847 True uveal coloboma-cleft lip and palate-intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007355 MONDO:0015159 True uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007356 MONDO:0000426 True Lynch syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007363 MONDO:0017310 True congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007365 MONDO:0016027 True seizures, benign familial neonatal, 1 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007366 MONDO:0016027 True seizures, benign familial neonatal, 2 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007367 MONDO:0000032 True febrile seizures, familial, 1 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007368 MONDO:0017762 True familial benign copper deficiency disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007369 MONDO:0002520 True hereditary coproporphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007372 MONDO:0000733 True cornea plana 1, autosomal dominant cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007374 MONDO:0003847 True Schnyder corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007374 MONDO:0020213 True Schnyder corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007375 MONDO:0000763 True epithelial basement membrane dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007375 MONDO:0020212 True epithelial basement membrane dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007376 MONDO:0020213 True fleck corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007377 MONDO:0000764 True granular corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007377 MONDO:0020213 True granular corneal dystrophy type I stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007378 MONDO:0020364 True posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007379 MONDO:0000763 True Meesmann corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007379 MONDO:0020212 True Meesmann corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007381 MONDO:0003847 True epithelial recurrent erosion dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007381 MONDO:0020212 True epithelial recurrent erosion dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007382 MONDO:0015159 True Ramos-Arroyo syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007383 MONDO:0019287 True Stern-Lubinsky-Durrie syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007384 MONDO:0020127 True congenital trigeminal anesthesia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007387 MONDO:0016033 True Cornelia de Lange syndrome 1 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007388 MONDO:0015929 True congenitally short costocoracoid ligament thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007389 MONDO:0000359 True spondylocostal dysostosis 5 spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007390 MONDO:0003847 True coumarin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007395 MONDO:0003847 True craniofacial-deafness-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007395 MONDO:0015161 True craniofacial-deafness-hand syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007397 MONDO:0015465 True craniometaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007401 MONDO:0015704 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome familial scaphocephaly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007401 MONDO:0020022 True craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007403 MONDO:0024237 True inherited Creutzfeldt-Jakob disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007404 MONDO:0002254 True Cri-du-chat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007404 MONDO:0016887 True Cri-du-chat syndrome partial deletion of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007405 MONDO:0015338 True Crouzon syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007407 MONDO:0015491 True Cryoglobulinemic vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007409 MONDO:0015161 True cryptomicrotia-brachydactyly-excess fingertip arch syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007410 MONDO:0020153 True isolated cryptophthalmia cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007411 MONDO:0019571 True cutis laxa, autosomal dominant 1 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007412 MONDO:0000426 True Beare-Stevenson cutis gyrata syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007412 MONDO:0015161 True Beare-Stevenson cutis gyrata syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007412 MONDO:0015338 True Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007413 MONDO:0015161 True Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007413 MONDO:0020120 True Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007414 MONDO:0002013 True Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007415 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007417 MONDO:0019268 True Darier disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007420 MONDO:0002254 True autosomal dominant deafness - onychodystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007420 MONDO:0003847 True autosomal dominant deafness - onychodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007422 MONDO:0003847 True keratoderma hereditarium mutilans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007424 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007428 MONDO:0015161 True deafness-craniofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007434 MONDO:0003847 True primary failure of tooth eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007435 MONDO:0015548 True dentatorubral-pallidoluysian atrophy Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007435 MONDO:0019794 True dentatorubral-pallidoluysian atrophy autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007436 MONDO:0015613 True dentin dysplasia type I dentin dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007437 MONDO:0015613 True dentin dysplasia type II dentin dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007441 MONDO:0018849 True dentinogenesis imperfecta type 2 dentinogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007442 MONDO:0018849 True dentinogenesis imperfecta type 3 dentinogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007445 MONDO:0017666 True dermatopathia pigmentosa reticularis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007445 MONDO:0019287 True dermatopathia pigmentosa reticularis ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007445 MONDO:0019289 True dermatopathia pigmentosa reticularis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007446 MONDO:0002406 True dermatosis papulosa nigra dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007448 MONDO:0006599 True familial dermatographia physical urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007449 MONDO:0019287 True dermo-odonto dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007450 MONDO:0000426 True neurohypophyseal diabetes insipidus autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007450 MONDO:0004782 True neurohypophyseal diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007450 MONDO:0015790 True neurohypophyseal diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007451 MONDO:0016383 True diabetes insipidus, nephrogenic, autosomal nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007452 MONDO:0018911 True maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007453 MONDO:0018911 True maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007461 MONDO:0015161 True short stature-valvular heart disease-characteristic facies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007471 MONDO:0006949 True Doyne honeycomb retinal dystrophy retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007472 MONDO:0006949 True basal laminar drusen retinal drusen UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007477 MONDO:0002254 True 3-M syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007477 MONDO:0006025 True 3-M syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007477 MONDO:0015161 True 3-M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007478 MONDO:0000426 True autosomal dominant Kenny-Caffey syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007481 MONDO:0005516 True Leri-Weill dyschondrosteosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007481 MONDO:0018230 True Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007482 MONDO:0018230 True dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007483 MONDO:0000118 True dyschromatosis symmetrica hereditaria reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007483 MONDO:0019289 True dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007486 MONDO:0020212 True hereditary benign intraepithelial dyskeratosis superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007489 MONDO:0018230 True dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007490 MONDO:0018230 True carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007493 MONDO:0015990 True torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0016812 True dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007496 MONDO:0020065 True dystonia 12 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007507 MONDO:0019268 True absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007508 MONDO:0000426 True Rapp-Hodgkin syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007508 MONDO:0019287 True Rapp-Hodgkin syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007510 MONDO:0017666 True Clouston syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007510 MONDO:0019287 True Clouston syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007511 MONDO:0019287 True ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007514 MONDO:0003847 True ectopia lentis 1, isolated, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007514 MONDO:0015998 True ectopia lentis 1, isolated, autosomal dominant isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007519 MONDO:0043009 True Edinburgh malformation syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007520 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007522 MONDO:0020066 True Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007523 MONDO:0020066 True Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007524 MONDO:0000426 True autosomal dominant Ehlers-Danlos syndrome, vascular type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007525 MONDO:0020066 True Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007526 MONDO:0015327 True Ehlers-Danlos syndrome, spondylodysplastic type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007526 MONDO:0019052 True Ehlers-Danlos syndrome, spondylodysplastic type inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007526 MONDO:0020066 True Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007527 MONDO:0020066 True Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007534 MONDO:0015356 True Beckwith-Wiedemann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007534 MONDO:0019716 True Beckwith-Wiedemann syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007537 MONDO:0003847 True lateral meningocele syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007537 MONDO:0018075 True lateral meningocele syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007538 MONDO:0019507 True amelogenesis imperfecta, type 3A amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007540 MONDO:0000426 True multiple endocrine neoplasia type 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007540 MONDO:0016365 True multiple endocrine neoplasia type 1 familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007540 MONDO:0017169 True multiple endocrine neoplasia type 1 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007540 MONDO:0021227 True multiple endocrine neoplasia type 1 adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007542 MONDO:0018230 True Camurati-Engelmann disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007548 MONDO:0006543 True transient bullous dermolysis of the newborn epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007549 MONDO:0006543 True generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007550 MONDO:0017610 True epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007551 MONDO:0017610 True epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007552 MONDO:0006543 True pretibial dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007557 MONDO:0003847 True epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007558 MONDO:0015650 True benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007559 MONDO:0015643 True photoparoxysmal response 1 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007560 MONDO:0017768 True reading seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007562 MONDO:0016648 True multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007562 MONDO:0022800 True multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007565 MONDO:0011512 True familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007568 MONDO:0019625 True aortic aneurysm, familial thoracic 4 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007572 MONDO:0001115 True primary familial polycythemia due to EPO receptor mutation familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007574 MONDO:0019270 True spinocerebellar ataxia type 34 erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007574 MONDO:0019792 True spinocerebellar ataxia type 34 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007576 MONDO:0002516 True esophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007576 MONDO:0021355 True esophageal cancer neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007585 MONDO:0005508 True exostoses, multiple, type 1 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007586 MONDO:0005508 True exostoses, multiple, type 2 hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007587 MONDO:0015161 True external auditory canal atresia-vertical talus-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007587 MONDO:0018234 True external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007588 MONDO:0015159 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007588 MONDO:0019289 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007592 MONDO:0020127 True familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007604 MONDO:0015161 True femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007604 MONDO:0018234 True femoral-facial syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007604 MONDO:0019054 True femoral-facial syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007606 MONDO:0003847 True fibrodysplasia ossificans progressiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007606 MONDO:0019296 True fibrodysplasia ossificans progressiva subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007608 MONDO:0005031 True desmoid tumor fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007608 MONDO:0006424 True desmoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007609 MONDO:0016070 True fibromatosis, gingival, 1 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007610 MONDO:0019280 True gingival fibromatosis-hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007610 MONDO:0019287 True gingival fibromatosis-hypertrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007614 MONDO:0001584 True congenital fibrosis of extraocular muscles ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007614 MONDO:0016106 True congenital fibrosis of extraocular muscles progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007615 MONDO:0019054 True laurin-Sandrow syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007617 MONDO:0000426 True Coffin-Siris syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007617 MONDO:0015452 True Coffin-Siris syndrome 1 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007619 MONDO:0000426 True isolated congenital adermatoglyphia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007620 MONDO:0018999 True fish eye disease LCAT deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007620 MONDO:0019052 True fish eye disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007621 MONDO:0003847 True Floating-Harbor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007621 MONDO:0015159 True Floating-Harbor syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007624 MONDO:0019303 True Flynn-Aird syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007627 MONDO:0018363 True focal facial dermal dysplasia type I focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007628 MONDO:0044203 True foveal hypoplasia 1 foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007630 MONDO:0031166 True North Carolina macular dystrophy macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007631 MONDO:0003847 True chromosome 16p12.1 deletion syndrome, 520kb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007635 MONDO:0000426 True Frasier syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007635 MONDO:0002254 True Frasier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007635 MONDO:0020040 True Frasier syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007636 MONDO:0016643 True frontorhiny frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007637 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 1 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007640 MONDO:0019118 True Sorsby fundus dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007646 MONDO:0002254 True Gamstorp-Wohlfart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007648 MONDO:0005017 True hereditary diffuse gastric adenocarcinoma diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007648 MONDO:0018502 True hereditary diffuse gastric adenocarcinoma hereditary gastric cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007650 MONDO:0004949 True MALT lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007650 MONDO:0017604 True MALT lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007651 MONDO:0019289 True gastrocutaneous syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007652 MONDO:0004966 True gastric mucosal hypertrophy gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007655 MONDO:0001165 True fissured tongue tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007656 MONDO:0005429 True Gerstmann-Straussler-Scheinker syndrome prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007661 MONDO:0002420 True Tourette syndrome tic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007669 MONDO:0018911 True renal cysts and diabetes syndrome maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007670 MONDO:0019175 True hypotrichosis-lymphedema-telangiectasia syndrome (grouping) primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007671 MONDO:0019722 True fibronectin glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007672 MONDO:0003847 True glomuvenous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007680 MONDO:0015161 True multinodular goiter-cystic kidney-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007681 MONDO:0000334 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007681 MONDO:0015356 True goiter, multinodular 1, with or without Sertoli-Leydig cell tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007686 MONDO:0000009 True gray platelet syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007686 MONDO:0020117 True gray platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0015159 True Myhre syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0019695 True Myhre syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007690 MONDO:0005039 True aromatase excess syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007693 MONDO:0019280 True hypertrichosis cubiti-short stature syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007693 MONDO:0019287 True hypertrichosis cubiti-short stature syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007696 MONDO:0019054 True Emery-Nelson syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0000426 True hand-foot-genital syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007698 MONDO:0002254 True hand-foot-genital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007698 MONDO:0015161 True hand-foot-genital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0018234 True hand-foot-genital syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007698 MONDO:0019054 True hand-foot-genital syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007700 MONDO:0017307 True hawkinsinuria disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007701 MONDO:0019490 True progressive familial heart block type II progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007705 MONDO:0003664 True Heinz body anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007709 MONDO:0957317 True hematuria, benign familial, 1 hematuria, benign familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007710 MONDO:0002098 True facial hemiatrophy facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007711 MONDO:0015161 True Bencze syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007712 MONDO:0015161 True oculoauriculovertebral spectrum with radial defects multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007712 MONDO:0018234 True oculoauriculovertebral spectrum with radial defects dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007716 MONDO:0005570 True alpha thalassemia-intellectual disability syndrome type 1 hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007716 MONDO:0016894 True alpha thalassemia-intellectual disability syndrome type 1 partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007718 MONDO:0003847 True hepatic adenomas, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007718 MONDO:0018902 True hepatic adenomas, familial hepatocellular adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007719 MONDO:0005711 True diaphragmatic hernia 1 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007721 MONDO:0004298 True hiatus hernia stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007725 MONDO:0015531 True hereditary progressive mucinous histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007727 MONDO:0005046 True autosomal dominant familial periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007727 MONDO:0017953 True autosomal dominant familial periodic fever hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007728 MONDO:0024516 True acne inversa, familial, 1 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007729 MONDO:0000158 True developmental dysplasia of the hip 1 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007732 MONDO:0000426 True Holt-Oram syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007732 MONDO:0015161 True Holt-Oram syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007732 MONDO:0016432 True Holt-Oram syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007733 MONDO:0016296 True holoprosencephaly 3 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007737 MONDO:0001411 True humeroradial synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007738 MONDO:0016761 True spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007738 MONDO:0019052 True spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007744 MONDO:0015903 True cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007747 MONDO:0006025 True isolated hyperchlorhidrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007747 MONDO:0021026 True isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007750 MONDO:0005439 True hypercholesterolemia, familial, 1 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007751 MONDO:0005439 True hypercholesterolemia, autosomal dominant, type B familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007753 MONDO:0001292 True Frey syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007756 MONDO:0019268 True hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007757 MONDO:0019289 True hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007762 MONDO:0001336 True hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007763 MONDO:0005086 True nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007764 MONDO:0002185 True autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007764 MONDO:0018230 True autosomal dominant osteosclerosis, Worth type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0015356 True hyperparathyroidism 2 with jaw tumors hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0016365 True hyperparathyroidism 2 with jaw tumors familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007772 MONDO:0019162 True pseudohypoaldosteronism type 2A pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007783 MONDO:0800188 True malignant hyperthermia, susceptibility to, 1 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007784 MONDO:0004425 True selective pituitary resistance to thyroid hormone hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007785 MONDO:0003847 True hyperthyroxinemia, dystransthyretinemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007785 MONDO:0005333 True hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007787 MONDO:0016381 True Ambras type hypertrichosis universalis congenita hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007790 MONDO:0015626 True Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007791 MONDO:0018458 True familial hypocalciuric hypercalcemia 1 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007792 MONDO:0018458 True familial hypocalciuric hypercalcemia 2 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007793 MONDO:0005516 True hypochondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007793 MONDO:0019685 True hypochondroplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007795 MONDO:0015161 True mullerian duct anomalies-limb anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007796 MONDO:0016390 True hypoparathyroidism, familial isolated 1 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007797 MONDO:0003847 True hypoparathyroidism-deafness-renal disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007797 MONDO:0016892 True hypoparathyroidism-deafness-renal disease syndrome partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007800 MONDO:0016880 True chromosome 18p deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007802 MONDO:0005345 True hypospadias 3, autosomal hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007803 MONDO:0000510 True multiple system atrophy synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007804 MONDO:0002254 True Pallister-Hall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007804 MONDO:0018762 True Pallister-Hall syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007805 MONDO:0003037 True hypotrichosis 2 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007808 MONDO:0859383 True ichthyosis hystrix of Curth-Macklin ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007809 MONDO:0859383 True ichthyosis histrix, Lambert type ichthyosis hystrix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007810 MONDO:0000426 True autosomal dominant ichthyosis vulgaris autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007813 MONDO:0017266 True superficial epidermolytic ichthyosis keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007818 MONDO:0000426 True hyper-IgE recurrent infection syndrome 1, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007818 MONDO:0018037 True hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007827 MONDO:0021167 True inclusion body myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007828 MONDO:0003847 True indifference to pain, congenital, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007829 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 1 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007835 MONDO:0004565 True intussusception intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007836 MONDO:0003847 True IVIC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007836 MONDO:0018234 True IVIC syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007836 MONDO:0019054 True IVIC syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007837 MONDO:0015159 True Johnson neuroectodermal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007837 MONDO:0019287 True Johnson neuroectodermal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0016910 True Jacobsen syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007838 MONDO:0018795 True Jacobsen syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007839 MONDO:0015161 True Aase-Smith syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007839 MONDO:0020022 True Aase-Smith syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007843 MONDO:0016512 True Kabuki syndrome 1 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007846 MONDO:0015159 True KBG syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007848 MONDO:0000426 True autosomal dominant keratitis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007848 MONDO:0003085 True autosomal dominant keratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007850 MONDO:0000426 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007850 MONDO:0018781 True autosomal dominant keratitis-ichthyosis-hearing loss syndrome KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007851 MONDO:0015486 True keratoconus 1 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007852 MONDO:0017666 True palmoplantar keratoderma-deafness syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007853 MONDO:0017666 True palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007854 MONDO:0019268 True keratolytic winter erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007856 MONDO:0002254 True palmoplantar keratoderma-esophageal carcinoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007856 MONDO:0017672 True palmoplantar keratoderma-esophageal carcinoma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007857 MONDO:0017666 True keratosis palmaris et plantaris-clinodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007860 MONDO:0017672 True focal palmoplantar and gingival keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007862 MONDO:0018094 True Waardenburg syndrome type 3 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007863 MONDO:0004617 True Kleine-Levin syndrome recurrent hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007864 MONDO:0002254 True angioosteohypertrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007864 MONDO:0019716 True angioosteohypertrophic syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007864 MONDO:0019755 True angioosteohypertrophic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007866 MONDO:0017666 True Bart-Pumphrey syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007867 MONDO:0019284 True nonsyndromic congenital nail disorder 2 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007868 MONDO:0021022 True hyperekplexia 1 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007871 MONDO:0018751 True familial congenital nasolacrimal duct obstruction hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007872 MONDO:0000426 True LADD syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007872 MONDO:0015161 True LADD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0000426 True trichorhinophalangeal syndrome type II autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007874 MONDO:0015159 True trichorhinophalangeal syndrome type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0016907 True trichorhinophalangeal syndrome type II partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007874 MONDO:0017951 True trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007875 MONDO:0000426 True Larsen syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007875 MONDO:0019690 True Larsen syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007875 MONDO:0019755 True Larsen syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007881 MONDO:0005486 True tooth agenesis, selective, 4 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007885 MONDO:0018381 True Legg-Calve-Perthes disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007885 MONDO:0022800 True Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007886 MONDO:0001572 True uterine corpus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007886 MONDO:0021525 True uterine corpus leiomyoma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007891 MONDO:0019289 True familial generalized lentiginosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007892 MONDO:0002254 True Lenz-Majewski hyperostotic dwarfism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007892 MONDO:0015159 True Lenz-Majewski hyperostotic dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007892 MONDO:0018230 True Lenz-Majewski hyperostotic dwarfism skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0000426 True Noonan syndrome with multiple lentigines autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007893 MONDO:0002254 True Noonan syndrome with multiple lentigines syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007893 MONDO:0015161 True Noonan syndrome with multiple lentigines multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007893 MONDO:0020297 True Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007894 MONDO:0019054 True Leri pleonosteosis congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007895 MONDO:0019694 True platyspondylic dysplasia, Torrance type spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007895 MONDO:0022800 True platyspondylic dysplasia, Torrance type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007896 MONDO:0004600 True acute monocytic leukemia monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007896 MONDO:0018874 True acute monocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007900 MONDO:0019284 True nonsyndromic congenital nail disorder 3 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007904 MONDO:0015161 True median nodule of the upper lip multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007906 MONDO:0020088 True familial partial lipodystrophy, Dunnigan type familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007908 MONDO:0006574 True multiple symmetric lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007908 MONDO:0019296 True multiple symmetric lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007909 MONDO:0019296 True familial multiple lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007915 MONDO:0004670 True systemic lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007916 MONDO:0018178 True primary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007918 MONDO:0002254 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007918 MONDO:0019118 True microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007919 MONDO:0019313 True lymphatic malformation 1 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007920 MONDO:0019313 True lymphatic malformation 5 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007921 MONDO:0002254 True yellow nail syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007921 MONDO:0019175 True yellow nail syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007922 MONDO:0002254 True lymphedema-distichiasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007924 MONDO:0000426 True Bannayan-Riley-Ruvalcaba syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007924 MONDO:0015159 True Bannayan-Riley-Ruvalcaba syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0015185 True Bannayan-Riley-Ruvalcaba syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0017623 True Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007924 MONDO:0019716 True Bannayan-Riley-Ruvalcaba syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007925 MONDO:0003847 True myelodysplastic syndrome associated with isolated del(5q) hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007925 MONDO:0018881 True myelodysplastic syndrome associated with isolated del(5q) myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007927 MONDO:0015496 True congenital macroglossia macroglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007930 MONDO:0009276 True Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007931 MONDO:0000390 True vitelliform macular dystrophy 2 vitelliform macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007932 MONDO:0005150 True age related macular degeneration 2 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007935 MONDO:0003005 True cystoid macular edema macular retinal edema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007938 MONDO:0010765 True 46,XY sex reversal 4 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007939 MONDO:0800188 True malignant hyperthermia, susceptibility to, 2 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007940 MONDO:0800188 True malignant hyperthermia, susceptibility to, 3 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007943 MONDO:0015161 True Nager acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007944 MONDO:0002457 True Treacher Collins syndrome 1 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0007946 MONDO:0003569 True jaw-winking syndrome cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007947 MONDO:0017310 True Marfan syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007949 MONDO:0015161 True Marshall syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007949 MONDO:0019287 True Marshall syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0007950 MONDO:0002724 True mastocytosis mast cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007950 MONDO:0004805 True mastocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007953 MONDO:0002232 True Binder syndrome nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007953 MONDO:0015161 True Binder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007956 MONDO:0016643 True Pai syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007958 MONDO:0015277 True familial medullary thyroid carcinoma medullary thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007959 MONDO:0002913 True medulloblastoma cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007959 MONDO:0005564 True medulloblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007963 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 1 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007964 MONDO:0000426 True melanoma, cutaneous malignant, susceptibility to, 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007964 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 2 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007967 MONDO:0015356 True melanoma and neural system tumor syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007969 MONDO:0002098 True Melkersson-Rosenthal syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007970 MONDO:0017198 True melorheostosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007971 MONDO:0018230 True delayed membranous cranial ossification skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007972 MONDO:0006744 True Meniere disease endolymphatic hydrops UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007974 MONDO:0100172 True intellectual disability, autosomal dominant 1 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007977 MONDO:0018230 True mesomelic dysplasia, Kantaputra type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007979 MONDO:0003847 True metachondromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007979 MONDO:0005381 True metachondromatosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007982 MONDO:0005516 True metaphyseal chondrodysplasia, Jansen type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007982 MONDO:0018230 True metaphyseal chondrodysplasia, Jansen type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007983 MONDO:0005516 True Schmid metaphyseal chondrodysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007983 MONDO:0018230 True Schmid metaphyseal chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007984 MONDO:0018230 True metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007986 MONDO:0018240 True metatropic dysplasia TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007987 MONDO:0016763 True Kniest dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0007987 MONDO:0022800 True Kniest dysplasia type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007988 MONDO:0000426 True autosomal dominant primary microcephaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007988 MONDO:0002320 True autosomal dominant primary microcephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007988 MONDO:0016056 True autosomal dominant primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007989 MONDO:0011119 True congenital microcoria iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007990 MONDO:0005093 True multiple benign circumferential skin creases on limbs skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007991 MONDO:0015159 True microcephaly-deafness-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007999 MONDO:0016296 True holoprosencephaly 2 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008000 MONDO:0100246 True migraine with or without aura, susceptibility to, 1 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008004 MONDO:0019817 True familial mitral valve prolapse congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008006 MONDO:0002098 True Mobius syndrome facial nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008007 MONDO:0002220 True tooth ankylosis tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008007 MONDO:0002257 True tooth ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008009 MONDO:0000426 True monilethrix autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008013 MONDO:0016874 True chromosome 9p deletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008015 MONDO:0002467 True motion sickness inner ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008016 MONDO:0019942 True trismus-pseudocamptodactyly syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008018 MONDO:0000426 True Muir-Torre syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008019 MONDO:0003847 True mullerian aplasia and hyperandrogenism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008019 MONDO:0015830 True mullerian aplasia and hyperandrogenism partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008021 MONDO:0016063 True Cowden syndrome 1 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008023 MONDO:0100309 True muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008026 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008029 MONDO:0016106 True Bethlem myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008029 MONDO:0019950 True Bethlem myopathy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008030 MONDO:0001347 True facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008031 MONDO:0001347 True facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008039 MONDO:0020010 True tropical spastic paraparesis infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008040 MONDO:0020076 True transient myeloproliferative syndrome myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008043 MONDO:0100309 True myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008044 MONDO:0000903 True myoclonic dystonia 11 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008045 MONDO:0001516 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008045 MONDO:0024257 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008046 MONDO:0019052 True autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008048 MONDO:0000426 True autosomal dominant centronuclear myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008048 MONDO:0002921 True autosomal dominant centronuclear myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008048 MONDO:0018947 True autosomal dominant centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008049 MONDO:0018949 True myopathy, distal, infantile-onset distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008050 MONDO:0016195 True MYH7-related skeletal myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008050 MONDO:0018949 True MYH7-related skeletal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008051 MONDO:0019952 True tubular aggregate myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008053 MONDO:0001384 True myopia 2, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008054 MONDO:0016367 True juvenile dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008054 MONDO:0018010 True juvenile dermatomyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008055 MONDO:0003847 True myotonia congenita, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008055 MONDO:0009710 True myotonia congenita, autosomal dominant Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008056 MONDO:0016107 True myotonic dystrophy type 1 myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008058 MONDO:0019952 True cylindrical spirals myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008059 MONDO:0017666 True Naegeli-Franceschetti-Jadassohn syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008059 MONDO:0019287 True Naegeli-Franceschetti-Jadassohn syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008059 MONDO:0019289 True Naegeli-Franceschetti-Jadassohn syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008060 MONDO:0019284 True nonsyndromic congenital nail disorder 1 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008061 MONDO:0000426 True nail-patella syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008061 MONDO:0002254 True nail-patella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008061 MONDO:0018234 True nail-patella syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008073 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 1 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008073 MONDO:0008264 True familial juvenile hyperuricemic nephropathy type 1 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008075 MONDO:0002546 True schwannomatosis schwannoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008075 MONDO:0019289 True schwannomatosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008075 MONDO:0019755 True schwannomatosis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008076 MONDO:0006683 True amyotrophic neuralgia brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008082 MONDO:0000426 True multiple endocrine neoplasia type 2B autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008082 MONDO:0019003 True multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008086 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1A hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008087 MONDO:0020127 True hereditary neuropathy with liability to pressure palsies hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008087 MONDO:0022754 True hereditary neuropathy with liability to pressure palsies chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008090 MONDO:0015134 True cyclic hematopoiesis constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008092 MONDO:0003847 True hereditary neutrophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008092 MONDO:0004805 True hereditary neutrophilia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008094 MONDO:0016231 True familial multiple nevi flammei capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008094 MONDO:0019293 True familial multiple nevi flammei skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008097 MONDO:0019755 True linear nevus sebaceous syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008098 MONDO:0018230 True mesomelic dwarfism, Nievergelt type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008099 MONDO:0016293 True congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008102 MONDO:0012061 True sick sinus syndrome 2, autosomal dominant familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008104 MONDO:0018997 True Noonan syndrome 1 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008106 MONDO:0005712 True nystagmus 2, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008111 MONDO:0018230 True oculodentodigital dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008111 MONDO:0019287 True oculodentodigital dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008113 MONDO:0015161 True Schilbach-Rott syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008114 MONDO:0005618 True obsessive-compulsive disorder anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008115 MONDO:0015267 True Feingold syndrome type 1 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008116 MONDO:0016106 True oculopharyngeal muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008119 MONDO:0015548 True spinocerebellar ataxia type 1 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008119 MONDO:0019792 True spinocerebellar ataxia type 1 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008123 MONDO:0000426 True autosomal dominant omodysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008123 MONDO:0017136 True autosomal dominant omodysplasia omodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008125 MONDO:0019284 True nonsyndromic congenital nail disorder 5 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008130 MONDO:0015159 True ophthalmoplegia-intellectual disability-lingua scrotalis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008132 MONDO:0020478 True optic atrophy with demyelinating disease of CNS Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008133 MONDO:0016387 True optic atrophy 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008133 MONDO:0020250 True optic atrophy 3 autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008134 MONDO:0016387 True autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008134 MONDO:0020250 True autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008135 MONDO:0043878 True optic atrophy 13 with retinal and foveal abnormalities hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008139 MONDO:0019054 True OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008139 MONDO:0019060 True OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008142 MONDO:0018381 True Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008142 MONDO:0018383 True Thiemann disease, familial form osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008145 MONDO:0018230 True Ollier disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008145 MONDO:0019060 True Ollier disease bone neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008150 MONDO:0002081 True osteoglophonic dwarfism musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008150 MONDO:0003847 True osteoglophonic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008152 MONDO:0019707 True multicentric carpo-tarsal osteolysis with or without nephropathy primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008153 MONDO:0021154 True progressive osseous heteroplasia dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008155 MONDO:0017198 True osteomesopyknosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008156 MONDO:0020645 True autosomal dominant osteopetrosis 2 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008157 MONDO:0002254 True Buschke-Ollendorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008161 MONDO:0016910 True otodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008164 MONDO:0005349 True otosclerosis 1 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008165 MONDO:0020102 True southeast Asian ovalocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008167 MONDO:0002378 True dermoid cyst of ovary dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008167 MONDO:0003281 True dermoid cyst of ovary ovarian cystic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008168 MONDO:0000646 True ovarian fibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008168 MONDO:0005167 True ovarian fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008170 MONDO:0001416 True ovarian cancer female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008170 MONDO:0021068 True ovarian cancer ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008171 MONDO:0005240 True nephrolithiasis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008172 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal dominant primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008173 MONDO:0016471 True pachyonychia congenita 1 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008174 MONDO:0016471 True pachyonychia congenita 2 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008175 MONDO:0019707 True pacman dysplasia primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008176 MONDO:0005382 True Paget disease of bone 3 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008177 MONDO:0021165 True extramammary Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008178 MONDO:0000507 True inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008179 MONDO:0003847 True paroxysmal extreme pain disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008182 MONDO:0015161 True nasopalpebral lipoma-coloboma syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008183 MONDO:0002356 True annular pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008187 MONDO:0031240 True panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008192 MONDO:0000448 True paragangliomas 1 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008195 MONDO:0016120 True paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0018240 True parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0019698 True parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008197 MONDO:0018953 True parietal foramina 1 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008198 MONDO:0018230 True parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008200 MONDO:0008199 True autosomal dominant Parkinson disease 1 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008201 MONDO:0002254 True Perry syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008201 MONDO:0003847 True Perry syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008205 MONDO:0018234 True patella aplasia/hypoplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008207 MONDO:0002342 True chondromalacia patellae chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008209 MONDO:0011827 True Char syndrome patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008210 MONDO:0020381 True patterned macular dystrophy 1 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008214 MONDO:0000426 True Pelger-Huet anomaly autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008215 MONDO:0016956 True adult-onset autosomal dominant demyelinating leukodystrophy partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008215 MONDO:0019046 True adult-onset autosomal dominant demyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008217 MONDO:0018234 True pelvis-shoulder dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008217 MONDO:0019054 True pelvis-shoulder dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008218 MONDO:0006594 True Hailey-Hailey disease pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008218 MONDO:0019268 True Hailey-Hailey disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008219 MONDO:0006594 True pemphigus vulgaris pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008221 MONDO:0019232 True prolidase deficiency inborn disorder of peptide metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008222 MONDO:0000995 True Andersen-Tawil syndrome familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008222 MONDO:0019119 True Andersen-Tawil syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008222 MONDO:0019171 True Andersen-Tawil syndrome familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008223 MONDO:0000995 True hypokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008224 MONDO:0000995 True hyperkalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008228 MONDO:0006873 True pernicious anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008231 MONDO:0002036 True Peyronie disease penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008234 MONDO:0000426 True multiple endocrine neoplasia type 2A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0018234 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0019054 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008244 MONDO:0000426 True piebaldism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008244 MONDO:0019290 True piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008245 MONDO:0019290 True piebald trait-neurologic defects syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008250 MONDO:0000050 True isolated growth hormone deficiency type II isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008259 MONDO:0002076 True familial spontaneous pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008260 MONDO:0019276 True Kindler syndrome inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008261 MONDO:0016382 True hereditary sclerosing poikiloderma, Weary type hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0015856 True Poland syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008262 MONDO:0019054 True Poland syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008263 MONDO:0004691 True polycystic kidney disease 1 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008264 MONDO:0019741 True autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008265 MONDO:0000447 True polycystic liver disease 1 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008269 MONDO:0017425 True polydactyly of a biphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008270 MONDO:0017425 True polydactyly of a triphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008271 MONDO:0017425 True polydactyly of an index finger preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008272 MONDO:0017425 True polysyndactyly 4 preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008274 MONDO:0000845 True polyostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008275 MONDO:0019707 True familial expansile osteolysis primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008276 MONDO:0000426 True generalized juvenile polyposis/juvenile polyposis coli autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008276 MONDO:0017380 True generalized juvenile polyposis/juvenile polyposis coli juvenile polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008280 MONDO:0015185 True Peutz-Jeghers syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0004335 True Cronkhite-Canada syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008283 MONDO:0015185 True Cronkhite-Canada syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008283 MONDO:0019287 True Cronkhite-Canada syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008286 MONDO:0019054 True crossed polysyndactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without ocular anomalies familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008292 MONDO:0017675 True punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008294 MONDO:0002520 True acute intermittent porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008295 MONDO:0015104 True sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008296 MONDO:0015104 True familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008297 MONDO:0002520 True variegate porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008298 MONDO:0018234 True postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008298 MONDO:0019054 True postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008300 MONDO:0015770 True Prader-Willi syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0019040 True Prader-Willi syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008301 MONDO:0002254 True Guttmacher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008301 MONDO:0003847 True Guttmacher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008302 MONDO:0019165 True centra precocious puberty 1 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008303 MONDO:0003847 True familial male-limited precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008303 MONDO:0015791 True familial male-limited precocious puberty peripheral precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008305 MONDO:0002254 True Currarino triad syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008305 MONDO:0018234 True Currarino triad dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008306 MONDO:0005620 True ABri amyloidosis cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008306 MONDO:0018591 True ABri amyloidosis ITM2B amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008310 MONDO:0002254 True Hutchinson-Gilford progeria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008310 MONDO:0019707 True Hutchinson-Gilford progeria syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008310 MONDO:0020732 True Hutchinson-Gilford progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008310 MONDO:0021106 True Hutchinson-Gilford progeria syndrome laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008312 MONDO:0015161 True autosomal dominant prognathism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008315 MONDO:0005836 True prostate cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008315 MONDO:0021259 True prostate cancer prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008316 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal dominant hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008318 MONDO:0002254 True Proteus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008318 MONDO:0017623 True Proteus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008318 MONDO:0018230 True Proteus syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008318 MONDO:0019716 True Proteus syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008322 MONDO:0005516 True pseudoachondroplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008322 MONDO:0018230 True pseudoachondroplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008323 MONDO:0006510 True Liddle syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008327 MONDO:0001554 True exfoliation syndrome phacogenic glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008327 MONDO:0002289 True exfoliation syndrome iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008329 MONDO:0019161 True autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008332 MONDO:0000009 True platelet-type von Willebrand disease inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008335 MONDO:0015161 True short stature-craniofacial anomalies-genital hypoplasia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008338 MONDO:0000426 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008338 MONDO:0019942 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008338 MONDO:0020937 True contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008339 MONDO:0021154 True antecubital pterygium syndrome dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008340 MONDO:0000728 True ptosis, hereditary congenital, 1 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008343 MONDO:0016581 True pulmonary atresia with ventricular septal defect conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008346 MONDO:0001436 True pulmonary hemosiderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008346 MONDO:0015926 True pulmonary hemosiderosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008355 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 1 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008357 MONDO:0015161 True radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008359 MONDO:0018234 True radio-renal syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008359 MONDO:0019054 True radio-renal syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008364 MONDO:0005294 True Raynaud disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008368 MONDO:0015827 True autosomal dominant distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008371 MONDO:0017747 True Dowling-Degos disease disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008371 MONDO:0019289 True Dowling-Degos disease hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008373 MONDO:0000473 True retinal arterial tortuosity arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008374 MONDO:0000455 True retinal cone dystrophy type 1 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008375 MONDO:0005283 True retinal detachment retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008377 MONDO:0019200 True retinitis pigmentosa 1 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008378 MONDO:0019200 True retinitis pigmentosa 9 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008379 MONDO:0019200 True retinitis pigmentosa 10 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008380 MONDO:0004338 True retinoblastoma retinal cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008381 MONDO:0019200 True dominant pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008383 MONDO:0000589 True rheumatoid arthritis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008383 MONDO:0005578 True rheumatoid arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008386 MONDO:0019187 True Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008387 MONDO:0003847 True ring dermoid of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008388 MONDO:0019278 True ringed hair disease hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008389 MONDO:0019978 True autosomal dominant Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008397 MONDO:0002254 True aplasia of lacrimal and salivary glands syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008397 MONDO:0003847 True aplasia of lacrimal and salivary glands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008401 MONDO:0000385 True pleomorphic adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008401 MONDO:0017168 True pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008401 MONDO:0021043 True pleomorphic adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008403 MONDO:0019054 True scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008403 MONDO:0019294 True scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008404 MONDO:0015161 True scalp-ear-nipple syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008404 MONDO:0019287 True scalp-ear-nipple syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008404 MONDO:0019294 True scalp-ear-nipple syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008407 MONDO:0016187 True neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008407 MONDO:0024257 True neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008408 MONDO:0000426 True scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008408 MONDO:0024257 True scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008409 MONDO:0016195 True congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008409 MONDO:0019952 True congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008411 MONDO:0002254 True ulnar-mammary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008412 MONDO:0015254 True intestinal schistosomiasis schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008414 MONDO:0005090 True schizophrenia 1 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008416 MONDO:0017666 True palmoplantar keratoderma-sclerodactyly syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008420 MONDO:0006566 True seborrheic keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008421 MONDO:0015161 True flat face-microstomia-ear anomaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008422 MONDO:0000426 True autosomal dominant sideroblastic anemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008422 MONDO:0020099 True autosomal dominant sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008425 MONDO:0015159 True omphalocele syndrome, Shprintzen-Goldberg type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0015159 True Shprintzen-Goldberg syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0015338 True Shprintzen-Goldberg syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008426 MONDO:0017310 True Shprintzen-Goldberg syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008428 MONDO:0000429 True septooptic dysplasia autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008428 MONDO:0002254 True septooptic dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008428 MONDO:0013099 True septooptic dysplasia combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008433 MONDO:0000402 True small cell lung carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008433 MONDO:0005138 True small cell lung carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008433 MONDO:0005454 True small cell lung carcinoma lung neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0000761 True Smith-Magenis syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008434 MONDO:0003847 True Smith-Magenis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008434 MONDO:0015159 True Smith-Magenis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008436 MONDO:0000473 True Sneddon syndrome arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008437 MONDO:0019064 True hereditary spastic paraplegia 3A hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008438 MONDO:0019064 True hereditary spastic paraplegia 4 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008440 MONDO:0015087 True spastic paraplegia-nephritis-deafness syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008442 MONDO:0015087 True spastic paraplegia-neuropathy-poikiloderma syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008443 MONDO:0015087 True spastic paraplegia-precocious puberty syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008445 MONDO:0015159 True delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008447 MONDO:0019350 True hereditary spherocytosis type 1 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008451 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008453 MONDO:0001516 True adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008453 MONDO:0024257 True adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008457 MONDO:0019793 True spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008458 MONDO:0005144 True spinocerebellar ataxia type 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008458 MONDO:0015548 True spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008458 MONDO:0019792 True spinocerebellar ataxia type 2 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008460 MONDO:0018234 True splenogonadal fusion-limb defects-micrognathia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008460 MONDO:0019054 True splenogonadal fusion-limb defects-micrognathia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008464 MONDO:0016576 True split hand-foot malformation 1 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008465 MONDO:0018237 True Patterson-Stevenson-Fontaine syndrome acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008466 MONDO:0018234 True Karsch-Neugebauer syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008466 MONDO:0019054 True Karsch-Neugebauer syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008467 MONDO:0015161 True Czeizel-Losonci syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008468 MONDO:0024512 True spondyloarthropathy, susceptibility to, 2 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008470 MONDO:0016761 True spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008471 MONDO:0016761 True spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008471 MONDO:0022800 True spondyloepiphyseal dysplasia congenita type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008473 MONDO:0018240 True spondyloepimetaphyseal dysplasia, Maroteaux type TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008474 MONDO:0000426 True spondyloepiphyseal dysplasia tarda, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008474 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008475 MONDO:0000836 True spondylolisthesis disease of bone structure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008476 MONDO:0016763 True spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008476 MONDO:0022800 True spondyloepimetaphyseal dysplasia, Strudwick type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008476 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008477 MONDO:0016763 True spondylometaphyseal dysplasia, Kozlowski type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008477 MONDO:0018240 True spondylometaphyseal dysplasia, Kozlowski type TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008478 MONDO:0016763 True spondylometaphyseal dysplasia, Schmidt type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008478 MONDO:0022800 True spondylometaphyseal dysplasia, Schmidt type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008479 MONDO:0016763 True spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008479 MONDO:0022800 True spondylometaphyseal dysplasia, 'corner fracture' type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008482 MONDO:0015929 True Sprengel deformity thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008483 MONDO:0000723 True stuttering, familial persistent, 1 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008485 MONDO:0006607 True sebocystomatosis sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008487 MONDO:0005151 True polycystic ovary syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008488 MONDO:0015159 True holoprosencephaly-radial heart renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008490 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal dominant otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008490 MONDO:0015161 True otospondylomegaepiphyseal dysplasia, autosomal dominant multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008491 MONDO:0005071 True stiff-person syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008493 MONDO:0020102 True overhydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008494 MONDO:0020102 True cryohydrocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008495 MONDO:0018795 True platelet storage pool deficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008497 MONDO:0018795 True Stormorken syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008504 MONDO:0042981 True supravalvular aortic stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008510 MONDO:0019054 True symphalangism with multiple anomalies of hands and feet congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008511 MONDO:0000426 True proximal symphalangism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008511 MONDO:0019054 True proximal symphalangism congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008512 MONDO:0019530 True syndactyly type 1 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008514 MONDO:0019530 True syndactyly type 3 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008515 MONDO:0019530 True syndactyly type 4 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008516 MONDO:0019530 True syndactyly type 5 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008518 MONDO:0001411 True calcaneonavicular coalition synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008519 MONDO:0017923 True multiple synostoses syndrome 1 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008521 MONDO:0019054 True tarsal-carpal coalition syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008534 MONDO:0019293 True generalized essential telangiectasia skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008535 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 1 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008538 MONDO:0003346 True temporal arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008540 MONDO:0019054 True extensor tendons of finger anomalies congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008541 MONDO:0002329 True spermatic cord torsion testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008542 MONDO:0005453 True tetralogy of fallot congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008542 MONDO:0016581 True tetralogy of fallot conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008544 MONDO:0018234 True tetramelic monodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008544 MONDO:0019054 True tetramelic monodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008546 MONDO:0017042 True thanatophoric dysplasia type 1 thanatophoric dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008547 MONDO:0017042 True thanatophoric dysplasia type 2 thanatophoric dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008551 MONDO:0015929 True thoracolaryngopelvic dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008551 MONDO:0019691 True thoracolaryngopelvic dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008552 MONDO:0000009 True platelet-type bleeding disorder 16 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008553 MONDO:0000009 True platelet-type bleeding disorder 17 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008554 MONDO:0019111 True thrombocythemia 1 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008555 MONDO:0100241 True thrombocytopenia 2 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008557 MONDO:0016910 True Paris-Trousseau thrombocytopenia partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008557 MONDO:0020117 True Paris-Trousseau thrombocytopenia alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0004680 True autoimmune thrombocytopenic purpura primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008558 MONDO:0019098 True autoimmune thrombocytopenic purpura autoimmune thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008559 MONDO:0100240 True thrombophilia due to thrombin defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008560 MONDO:0100240 True thrombophilia due to activated protein C resistance inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008562 MONDO:0019054 True thumb deformity-alopecia-pigmentation anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008563 MONDO:0019054 True thumb stiffness-brachydactyly-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008565 MONDO:0015476 True familial thyroglossal duct cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008567 MONDO:0017896 True thyroid cancer, nonmedullary, 1 familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008572 MONDO:0018234 True tibia, hypoplasia or aplasia of, with polydactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008572 MONDO:0019054 True tibia, hypoplasia or aplasia of, with polydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008582 MONDO:0019287 True tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0008583 MONDO:0005031 True inherited torticollis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008585 MONDO:0001641 True HELLP syndrome severe pre-eclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008590 MONDO:0003233 True tremor, hereditary essential, 1 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008592 MONDO:0018230 True tricho-dento-osseous syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008592 MONDO:0019287 True tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008596 MONDO:0000426 True trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008596 MONDO:0017951 True trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008597 MONDO:0000426 True trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008597 MONDO:0017951 True trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008598 MONDO:0019278 True trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008599 MONDO:0003543 True trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008599 MONDO:0016374 True trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008603 MONDO:0018065 True trigonocephaly 1 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008607 MONDO:0019054 True triphalangeal thumbs-brachyectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008610 MONDO:0001703 True blue color blindness color vision disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008610 MONDO:0003847 True blue color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008611 MONDO:0018234 True humerus trochlea aplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008611 MONDO:0019054 True humerus trochlea aplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008612 MONDO:0001734 True tuberous sclerosis 1 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008617 MONDO:0005265 True inflammatory bowel disease 11 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008618 MONDO:0018230 True mesomelic dwarfism, Reinhardt-Pfeiffer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008619 MONDO:0018230 True ulna metaphyseal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008620 MONDO:0018230 True upper limb mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008621 MONDO:0019278 True uncombable hair syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008622 MONDO:0019287 True tricho-retino-dento-digital syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008627 MONDO:0006295 True ureter cancer malignant urinary system neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008627 MONDO:0021111 True ureter cancer ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008628 MONDO:0001926 True ureterocele ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008633 MONDO:0000426 True Muckle-Wells syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008633 MONDO:0016168 True Muckle-Wells syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008637 MONDO:0016064 True bifid uvula cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008638 MONDO:0004634 True varicose disease vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008642 MONDO:0002254 True VACTERL/vater association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008645 MONDO:0015161 True ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008647 MONDO:0024573 True hypertrophic cardiomyopathy 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008650 MONDO:0015161 True posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008652 MONDO:0003847 True congenital vertical talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008652 MONDO:0017427 True congenital vertical talus congenital deformities of limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008653 MONDO:0017329 True vesicoureteral reflux 1 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008654 MONDO:0020380 True spinocerebellar ataxia 27A autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008659 MONDO:0019220 True transcobalamin I deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008660 MONDO:0000044 True autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008660 MONDO:0000426 True autosomal dominant hypophosphatemic rickets autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008661 MONDO:0007179 True vitiligo autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008668 MONDO:0019565 True von Willebrand disease 1 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008670 MONDO:0018094 True Waardenburg syndrome type 1 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008673 MONDO:0015161 True acrofacial dysostosis, Weyers type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008673 MONDO:0018237 True acrofacial dysostosis, Weyers type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008673 MONDO:0019287 True acrofacial dysostosis, Weyers type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008675 MONDO:0015161 True Freeman-Sheldon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0019942 True Freeman-Sheldon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008676 MONDO:0015748 True white sponge nevus 1 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008678 MONDO:0002254 True Williams syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008678 MONDO:0016906 True Williams syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008679 MONDO:0003321 True Wilms tumor 1 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008680 MONDO:0003321 True Wilms tumor 2 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0015356 True WAGR syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0016893 True WAGR syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008681 MONDO:0020040 True WAGR syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008682 MONDO:0000426 True Denys-Drash syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008682 MONDO:0002254 True Denys-Drash syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008682 MONDO:0020040 True Denys-Drash syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008683 MONDO:0003321 True Wilms tumor 3 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0015159 True Wolf-Hirschhorn syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0022762 True Wolf-Hirschhorn syndrome chromosome 4 short arm deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008685 MONDO:0000992 True Wolff-Parkinson-White syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008686 MONDO:0019278 True isolated familial wooly hair disorder hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008688 MONDO:0001713 True WT limb-blood syndrome inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008689 MONDO:0017910 True dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008692 MONDO:0017774 True abetalipoproteinemia hypobetalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008692 MONDO:0020044 True abetalipoproteinemia autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008692 MONDO:0020127 True abetalipoproteinemia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008693 MONDO:0002254 True ablepharon macrostomia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008693 MONDO:0003847 True ablepharon macrostomia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008694 MONDO:0015159 True pseudoprogeria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008695 MONDO:0016987 True chorea-acanthocytosis neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008695 MONDO:0019268 True chorea-acanthocytosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008695 MONDO:0020127 True chorea-acanthocytosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008696 MONDO:0019268 True acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008698 MONDO:0003749 True achalasia esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008699 MONDO:0006025 True achalasia microcephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008700 MONDO:0005516 True acheiropody osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008700 MONDO:0019713 True acheiropody non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008701 MONDO:0019648 True achondrogenesis type IA achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008702 MONDO:0019648 True achondrogenesis type II achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008702 MONDO:0022800 True achondrogenesis type II type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008703 MONDO:0019696 True acromesomelic dysplasia 2A acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008704 MONDO:0017855 True short-limb skeletal dysplasia with severe combined immunodeficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008705 MONDO:0002561 True lysosomal acid phosphatase deficiency lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008706 MONDO:0015161 True Ackerman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008706 MONDO:0019287 True Ackerman syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008707 MONDO:0015161 True acro-renal-mandibular syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008708 MONDO:0002254 True acrocallosal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008708 MONDO:0015159 True acrocallosal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008709 MONDO:0015338 True acrocephalopolydactyly syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008710 MONDO:0019012 True RAB23-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008712 MONDO:0015161 True acrocraniofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008712 MONDO:0018237 True acrocraniofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008713 MONDO:0004689 True acrodermatitis enteropathica inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008713 MONDO:0017764 True acrodermatitis enteropathica disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008714 MONDO:0015159 True acrofacial dysostosis Rodriguez type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008714 MONDO:0018237 True acrofacial dysostosis Rodriguez type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008715 MONDO:0018237 True acrofrontofacionasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008716 MONDO:0019303 True acrogeria premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008717 MONDO:0019696 True acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008718 MONDO:0019119 True Morvan syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008721 MONDO:0017714 True medium chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008722 MONDO:0017714 True short chain acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008723 MONDO:0017713 True very long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008724 MONDO:0015168 True adducted thumbs-arthrogryposis syndrome, Christian type arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008725 MONDO:0018479 True congenital lipoid adrenal hyperplasia due to STAR deficency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008725 MONDO:0019852 True congenital lipoid adrenal hyperplasia due to STAR deficency inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008726 MONDO:0008803 True Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008727 MONDO:0018479 True congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008728 MONDO:0018479 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008729 MONDO:0018479 True congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008730 MONDO:0018479 True congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0015129 True familial adrenal hypoplasia with absent pituitary luteinizing hormone chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0015770 True familial adrenal hypoplasia with absent pituitary luteinizing hormone congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008731 MONDO:0020040 True familial adrenal hypoplasia with absent pituitary luteinizing hormone 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008733 MONDO:0015129 True familial glucocorticoid deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008740 MONDO:0015159 True agnathia-otocephaly complex multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008741 MONDO:0015161 True PAGOD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008741 MONDO:0020040 True PAGOD syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008742 MONDO:0000426 True autosomal dominant severe congenital neutropenia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008742 MONDO:0018542 True autosomal dominant severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008743 MONDO:0015159 True Stimmler syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008744 MONDO:0015161 True alar cartilages hypoplasia-coloboma-telecanthus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008745 MONDO:0018135 True oculocutaneous albinism type 1A oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008746 MONDO:0018910 True oculocutaneous albinism type 2 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008747 MONDO:0018910 True oculocutaneous albinism type 3 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008749 MONDO:0019992 True pseudohypoparathyroidism type 2 pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008750 MONDO:0015161 True microcephaly-albinism-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008752 MONDO:0019046 True Alexander disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008753 MONDO:0017307 True alkaptonuria disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008754 MONDO:0019287 True alopecia - contractures - dwarfism - intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008755 MONDO:0015650 True Moynahan syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008755 MONDO:0019289 True Moynahan syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008756 MONDO:0002254 True alopecia - intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008757 MONDO:0000005 True alopecia universalis congenita alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0020127 True mitochondrial DNA depletion syndrome 4a hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0024237 True mitochondrial DNA depletion syndrome 4a inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008758 MONDO:0100512 True mitochondrial DNA depletion syndrome 4a mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0016790 True oxoglutaricaciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0020127 True oxoglutaricaciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008760 MONDO:0006025 True beta-ketothiolase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008760 MONDO:0019215 True beta-ketothiolase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008760 MONDO:0019229 True beta-ketothiolase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008762 MONDO:0006025 True autosomal recessive Alport syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008762 MONDO:0018965 True autosomal recessive Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008763 MONDO:0002254 True Alstrom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008763 MONDO:0005308 True Alstrom syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008763 MONDO:0006025 True Alstrom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008764 MONDO:0018998 True Leber congenital amaurosis 1 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008765 MONDO:0018998 True Leber congenital amaurosis 2 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008766 MONDO:0019118 True amaurosis-hypertrichosis syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008771 MONDO:0019507 True amelogenesis imperfecta type 1G amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008774 MONDO:0017351 True 2-aminoadipic 2-oxoadipic aciduria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008777 MONDO:0000763 True gelatinous drop-like corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008777 MONDO:0003847 True gelatinous drop-like corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008777 MONDO:0020212 True gelatinous drop-like corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008783 MONDO:0001822 True Tangier disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008783 MONDO:0017773 True Tangier disease hypoalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008786 MONDO:0015194 True pyridoxine-responsive sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008787 MONDO:0000104 True microcytic anemia with liver iron overload anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008787 MONDO:0016624 True microcytic anemia with liver iron overload inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008787 MONDO:0017763 True microcytic anemia with liver iron overload disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008788 MONDO:0016624 True IRIDA syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008791 MONDO:0000819 True anencephaly 1 anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008791 MONDO:0015159 True anencephaly 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008792 MONDO:0019296 True familial angiolipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008795 MONDO:0002254 True aniridia-cerebellar ataxia-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008796 MONDO:0015159 True aniridia-renal agenesis-psychomotor retardation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008797 MONDO:0006999 True anodontia tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008798 MONDO:0019211 True nonsyndromic congenital nail disorder 4 isolated congenital anonychia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008799 MONDO:0016073 True anophthalmia/microphthalmia-esophageal atresia syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008800 MONDO:0006025 True microphthalmia with limb anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008803 MONDO:0015338 True Antley-Bixler syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008806 MONDO:0018234 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008806 MONDO:0019054 True Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008808 MONDO:0019175 True aplasia cutis congenita-intestinal lymphangiectasia syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008808 MONDO:0019294 True aplasia cutis congenita-intestinal lymphangiectasia syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008810 MONDO:0001336 True familial apolipoprotein C-II deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008810 MONDO:0018637 True familial apolipoprotein C-II deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008812 MONDO:0019287 True AREDYLD syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008813 MONDO:0020022 True arachnoid cyst central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008817 MONDO:0018870 True arterial calcification, generalized, of infancy, 1 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008822 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008823 MONDO:0015168 True arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008824 MONDO:0002254 True fetal akinesia deformation sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008825 MONDO:0015168 True arthrogryposis multiplex congenita-whistling face syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008826 MONDO:0015168 True arthrogryposis-hyperkeratosis syndrome, lethal form arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008828 MONDO:0006025 True camptodactyly-arthropathy-coxa vara-pericarditis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008830 MONDO:0019251 True aspartylglucosaminuria oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008830 MONDO:0800088 True aspartylglucosaminuria lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008831 MONDO:0018770 True asphyxiating thoracic dystrophy 1 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008832 MONDO:0018677 True right atrial isomerism visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008833 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 1 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008838 MONDO:0016612 True ataxia - deafness - intellectual disability syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008840 MONDO:0005071 True ataxia telangiectasia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008840 MONDO:0019852 True ataxia telangiectasia inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008846 MONDO:0004689 True atransferrinemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008846 MONDO:0016624 True atransferrinemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008846 MONDO:0017763 True atransferrinemia disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008847 MONDO:0003847 True atrichia with papular lesions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008847 MONDO:0004907 True atrichia with papular lesions alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008849 MONDO:0018855 True atrophoderma vermiculata keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008853 MONDO:0015161 True Barber-Say syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008853 MONDO:0019287 True Barber-Say syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008854 MONDO:0015229 True Bardet-Biedl syndrome 1 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008855 MONDO:0031520 True MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008857 MONDO:0015161 True Beemer-Ertbruggen syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008858 MONDO:0005071 True Behr syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008858 MONDO:0006025 True Behr syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008861 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008862 MONDO:0018950 True 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008863 MONDO:0015905 True sitosterolemia syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008864 MONDO:0015159 True Biemond syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008867 MONDO:0001751 True biliary atresia cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008869 MONDO:0019342 True Seckel syndrome 1 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008870 MONDO:0015159 True bird headed-dwarfism, Montreal type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008871 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type I osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008872 MONDO:0005516 True microcephalic osteodysplastic primordial dwarfism type II osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008874 MONDO:0015126 True Bangstad syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008875 MONDO:0015161 True blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008876 MONDO:0002254 True Bloom syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008876 MONDO:0005570 True Bloom syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008876 MONDO:0006025 True Bloom syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008876 MONDO:0015951 True Bloom syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008876 MONDO:0020629 True Bloom syndrome microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008877 MONDO:0019216 True blue diaper syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008878 MONDO:0018230 True bone dysplasia, lethal Holmgren type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008879 MONDO:0006025 True Bowen-Conradi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008879 MONDO:0015159 True Bowen-Conradi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008881 MONDO:0019698 True kyphomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008884 MONDO:0019287 True oculoosteocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008885 MONDO:0002254 True Elsahy-Waters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008885 MONDO:0015159 True Elsahy-Waters syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008889 MONDO:0005294 True thromboangiitis obliterans peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008891 MONDO:0024257 True riboflavin transporter deficiency hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008892 MONDO:0015762 True progressive familial intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008893 MONDO:0015159 True C syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008893 MONDO:0015338 True C syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008894 MONDO:0019280 True cataract-hypertrichosis-intellectual disability syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008894 MONDO:0019287 True cataract-hypertrichosis-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008895 MONDO:0003847 True hereditary arterial and articular multiple calcification syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008896 MONDO:0019698 True campomelia, Cumming type bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008898 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0015161 True camptodactyly syndrome, Guadalajara type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 2 dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008899 MONDO:0019054 True camptodactyly syndrome, Guadalajara type 2 congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008900 MONDO:0015159 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008900 MONDO:0018234 True camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008901 MONDO:0020120 True Tel Hashomer camptodactyly syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008903 MONDO:0000376 True lung cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008903 MONDO:0003274 True lung cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008903 MONDO:0021117 True lung cancer lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008905 MONDO:0015979 True predisposition to invasive fungal disease due to CARD9 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008907 MONDO:0005500 True PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008907 MONDO:0017740 True PMM2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008908 MONDO:0005501 True MGAT2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008908 MONDO:0015327 True MGAT2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008908 MONDO:0017740 True MGAT2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008910 MONDO:0003847 True carboxypeptidase N deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008913 MONDO:0031323 True cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008915 MONDO:0003847 True dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008917 MONDO:0015161 True heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008918 MONDO:0017716 True carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008919 MONDO:0017716 True systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0016801 True Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0018117 True Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0018158 True Sengers syndrome mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008923 MONDO:0017666 True autosomal recessive palmoplantar keratoderma and congenital alopecia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008923 MONDO:0019287 True autosomal recessive palmoplantar keratoderma and congenital alopecia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0008926 MONDO:0006025 True COFS syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008926 MONDO:0016073 True COFS syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008927 MONDO:0003847 True colobomatous optic disc-macular atrophy-chorioretinopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008928 MONDO:0100309 True cataract-ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008931 MONDO:0019054 True Cenani-Lenz syndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008934 MONDO:0019287 True cerebellar ataxia-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008935 MONDO:0015770 True cerebellar ataxia-hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008938 MONDO:0020046 True early-onset cerebellar ataxia with retained tendon reflexes autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008943 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 2 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008944 MONDO:0018772 True Joubert syndrome 1 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008947 MONDO:0003996 True bilateral striopallidodentate calcinosis basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008947 MONDO:0015547 True bilateral striopallidodentate calcinosis hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0002615 True cerebrotendinous xanthomatosis xanthomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008948 MONDO:0015905 True cerebrotendinous xanthomatosis syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0019046 True cerebrotendinous xanthomatosis leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008948 MONDO:0019218 True cerebrotendinous xanthomatosis inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0019296 True cerebrotendinous xanthomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020044 True cerebrotendinous xanthomatosis autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020127 True cerebrotendinous xanthomatosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0020143 True cerebrotendinous xanthomatosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008955 MONDO:0008926 True cerebrooculofacioskeletal syndrome 1 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008958 MONDO:0001029 True Klippel-Feil syndrome 2, autosomal recessive Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008961 MONDO:0018995 True Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008962 MONDO:0018306 True Griscelli syndrome type 1 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008963 MONDO:0015541 True Chediak-Higashi syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0017305 True Chediak-Higashi syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0017739 True Chediak-Higashi syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0020127 True Chediak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008963 MONDO:0024237 True Chediak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008965 MONDO:0002254 True CHARGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008965 MONDO:0015770 True CHARGE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008966 MONDO:0002254 True Aagenaes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008966 MONDO:0019175 True Aagenaes syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008967 MONDO:0018841 True congenital bile acid synthesis defect 4 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008970 MONDO:0019702 True chondrodysplasia Blomstrand type neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008972 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008973 MONDO:0015775 True chondrodysplasia punctata, Toriello type non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0019240 True Greenberg dysplasia sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0019701 True Greenberg dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008977 MONDO:0005089 True chondrosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008978 MONDO:0002597 True chordoma notochordal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008980 MONDO:0015770 True ataxia-hypogonadism-choroidal dystrophy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008980 MONDO:0100309 True ataxia-hypogonadism-choroidal dystrophy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008988 MONDO:0015991 True citrullinemia type I citrullinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008991 MONDO:0015161 True Verloove Vanhorick-Brubakk syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008992 MONDO:0015161 True Juberg-Hayward syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008995 MONDO:0002254 True Yunis-Varon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008995 MONDO:0018230 True Yunis-Varon syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008998 MONDO:0016006 True Cockayne syndrome type 3 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008999 MONDO:0003847 True Cohen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008999 MONDO:0015134 True Cohen syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008999 MONDO:0015159 True Cohen syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009003 MONDO:0018852 True achromatopsia 2 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009007 MONDO:0003847 True Jalili syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009008 MONDO:0003847 True heart defect - tongue hamartoma - polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009008 MONDO:0015161 True heart defect - tongue hamartoma - polysyndactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009010 MONDO:0020292 True aortic arch interruption congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009012 MONDO:0015168 True multiple pterygium-malignant hyperthermia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009014 MONDO:0000733 True cornea plana 2 cornea plana UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009015 MONDO:0002254 True corneal dystrophy-perceptive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009015 MONDO:0003847 True corneal dystrophy-perceptive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009016 MONDO:0001515 True band keratopathy corneal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009018 MONDO:0020213 True central cloudy dystrophy of François stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009019 MONDO:0000766 True congenital hereditary endothelial dystrophy of cornea corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009019 MONDO:0003847 True congenital hereditary endothelial dystrophy of cornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009019 MONDO:0020214 True congenital hereditary endothelial dystrophy of cornea posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009020 MONDO:0020213 True macular corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009024 MONDO:0015159 True cortical blindness-intellectual disability-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009025 MONDO:0005523 True apparent mineralocorticoid excess steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009026 MONDO:0000426 True Costello syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009026 MONDO:0015159 True Costello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009026 MONDO:0020297 True Costello syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015338 True cranioectodermal dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015461 True cranioectodermal dysplasia short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0019287 True cranioectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009033 MONDO:0003847 True temtamy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009033 MONDO:0015159 True temtamy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009035 MONDO:0006025 True craniometaphyseal dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009035 MONDO:0015465 True craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009036 MONDO:0015159 True cardiocranial syndrome, Pfeiffer type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009036 MONDO:0015338 True cardiocranial syndrome, Pfeiffer type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009039 MONDO:0015338 True Baller-Gerold syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009042 MONDO:0015338 True craniotelencephalic dysplasia syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009042 MONDO:0018838 True craniotelencephalic dysplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009044 MONDO:0002408 True Crigler-Najjar syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009046 MONDO:0002254 True Fraser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009046 MONDO:0006025 True Fraser syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009046 MONDO:0015161 True Fraser syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009046 MONDO:0020153 True Fraser syndrome cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009050 MONDO:0003429 True Cushing disease due to pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009050 MONDO:0017824 True Cushing disease due to pituitary adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009050 MONDO:0020528 True Cushing disease due to pituitary adenoma ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009052 MONDO:0019572 True cutis laxa, autosomal recessive, type 1A autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009053 MONDO:0017569 True ALDH18A1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009053 MONDO:0100237 True ALDH18A1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009055 MONDO:0016231 True cutis marmorata telangiectatica congenita capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009055 MONDO:0019293 True cutis marmorata telangiectatica congenita skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009058 MONDO:0004736 True cystathioninuria inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009058 MONDO:0019222 True cystathioninuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009061 MONDO:0006025 True cystic fibrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009063 MONDO:0003847 True ventriculomegaly-cystic kidney disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009064 MONDO:0016239 True ocular cystinosis cystinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009067 MONDO:0015962 True cystinuria inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009067 MONDO:0019216 True cystinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009071 MONDO:0015962 True hereditary renal hypouricemia inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009072 MONDO:0002427 True Dandy-Walker syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009073 MONDO:0019078 True Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009074 MONDO:0015159 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009074 MONDO:0020022 True facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009075 MONDO:0020022 True Dandy-Walker malformation-postaxial polydactyly syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009076 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009079 MONDO:0002254 True DOORS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009079 MONDO:0003847 True DOORS syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009080 MONDO:0015161 True split hand-foot malformation 1 with sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009080 MONDO:0018234 True split hand-foot malformation 1 with sensorineural hearing loss dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009080 MONDO:0019054 True split hand-foot malformation 1 with sensorineural hearing loss congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009082 MONDO:0002254 True high myopia-sensorineural deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009082 MONDO:0003847 True high myopia-sensorineural deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009084 MONDO:0019287 True conductive deafness-ptosis-skeletal anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009091 MONDO:0013099 True non-acquired combined pituitary hormone deficiency with spine abnormalities combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009091 MONDO:0018762 True non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009092 MONDO:0006025 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009092 MONDO:0019046 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009093 MONDO:0019046 True dermatoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009094 MONDO:0021154 True dermochondrocorneal dystrophy dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009095 MONDO:0019287 True dermatoosteolysis, Kirghizian type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009097 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal recessive persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009099 MONDO:0015962 True nephrogenic diabetes insipidus-intracranial calcification syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009101 MONDO:0003847 True Wolfram syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009101 MONDO:0018105 True Wolfram syndrome 1 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009103 MONDO:0005711 True diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009104 MONDO:0006025 True Donnai-Barrow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009105 MONDO:0002254 True trichohepatoenteric syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009105 MONDO:0003778 True trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009106 MONDO:0018075 True diastematomyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009107 MONDO:0005516 True diastrophic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009109 MONDO:0019216 True lysinuric protein intolerance inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009110 MONDO:0019216 True dicarboxylic aminoaciduria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009111 MONDO:0019238 True dihydropyrimidinuria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009112 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009113 MONDO:0019052 True hemolytic anemia due to diphosphoglycerate mutase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009114 MONDO:0017706 True congenital sucrase-isomaltase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009115 MONDO:0017706 True congenital lactase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009121 MONDO:0015161 True von Voss-Cherstvoy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009123 MONDO:0017759 True orthostatic hypotension 1 disorder of catecholamine synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009123 MONDO:0021272 True orthostatic hypotension 1 inherited orthostatic hypotension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009124 MONDO:0015159 True Dubowitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009124 MONDO:0019287 True Dubowitz syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009126 MONDO:0001045 True duodenal atresia intestinal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009131 MONDO:0005071 True Riley-Day syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009133 MONDO:0002254 True cerebellar ataxia, intellectual disability, and dysequilibrium syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009133 MONDO:0020043 True cerebellar ataxia, intellectual disability, and dysequilibrium autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009134 MONDO:0017749 True congenital dyserythropoietic anemia type 2 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009134 MONDO:0019403 True congenital dyserythropoietic anemia type 2 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009135 MONDO:0020337 True anemia, congenital dyserythropoietic, type 1a congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009136 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009138 MONDO:0017198 True dysosteosclerosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009141 MONDO:0015990 True torsion dystonia 2 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009143 MONDO:0016817 True Meier-Gorlin syndrome 1 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009144 MONDO:0020289 True Ebstein anomaly congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009145 MONDO:0017666 True SchC6pf-Schulz-Passarge syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009146 MONDO:0019287 True ectodermal dysplasia-sensorineural deafness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009149 MONDO:0019287 True ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009150 MONDO:0019287 True hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009151 MONDO:0000358 True cleft lip/palate-ectodermal dysplasia syndrome orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009151 MONDO:0006025 True cleft lip/palate-ectodermal dysplasia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009151 MONDO:0019287 True cleft lip/palate-ectodermal dysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009152 MONDO:0003847 True ectopia lentis 2, isolated, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009152 MONDO:0015998 True ectopia lentis 2, isolated, autosomal recessive isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009153 MONDO:0003847 True ectopia lentis et pupillae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009154 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 5 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009155 MONDO:0018234 True EEM syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009155 MONDO:0019287 True EEM syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009156 MONDO:0019054 True ectrodactyly-polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009157 MONDO:0016576 True split hand-foot malformation 6 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009159 MONDO:0020066 True Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009161 MONDO:0020066 True Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009162 MONDO:0006025 True Ellis-van Creveld syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009162 MONDO:0018770 True Ellis-van Creveld syndrome Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009162 MONDO:0019287 True Ellis-van Creveld syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009165 MONDO:0018866 True Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009166 MONDO:0020135 True pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009167 MONDO:0015159 True Bonnemann-Meinecke-Reich syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009168 MONDO:0003847 True Fowler syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009169 MONDO:0000470 True endocardial fibroelastosis endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009173 MONDO:0003847 True congenital enteropathy due to enteropeptidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009173 MONDO:0004335 True congenital enteropathy due to enteropeptidase deficiency digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009174 MONDO:0005020 True protein-losing enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009175 MONDO:0020122 True eosinophilic fasciitis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009176 MONDO:0005046 True epidermodysplasia verruciformis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009177 MONDO:0017612 True late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009179 MONDO:0006543 True recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009180 MONDO:0017612 True junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009181 MONDO:0002254 True epidermolysis bullosa simplex 5B, with muscular dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009181 MONDO:0016198 True epidermolysis bullosa simplex 5B, with muscular dystrophy qualitative or quantitative defects of plectin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009181 MONDO:0017610 True epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009182 MONDO:0017612 True junctional epidermolysis bullosa Herlitz type junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009183 MONDO:0017612 True junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009185 MONDO:0019287 True amelocerebrohypohidrotic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009188 MONDO:0015159 True epilepsy-telangiectasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009189 MONDO:0016648 True multiple epiphyseal dysplasia type 4 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009192 MONDO:0002254 True Wolcott-Rallison syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009192 MONDO:0006025 True Wolcott-Rallison syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009194 MONDO:0003847 True immunodeficiency 32B hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009197 MONDO:0020113 True transient erythroblastopenia of childhood primary acquired red cell aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009202 MONDO:0043009 True Thakker-Donnai syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009203 MONDO:0018363 True focal facial dermal dysplasia type III focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009204 MONDO:0018234 True lethal faciocardiomelic dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009204 MONDO:0019054 True lethal faciocardiomelic dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009205 MONDO:0015159 True faciocardiorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009209 MONDO:0015161 True autosomal recessive faciodigitogenital syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009210 MONDO:0021181 True congenital factor V deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009211 MONDO:0015722 True congenital factor VII deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009212 MONDO:0015722 True congenital factor X deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009216 MONDO:0002412 True glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009217 MONDO:0002254 True Fanconi-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009221 MONDO:0018234 True femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009221 MONDO:0019054 True femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0018234 True Gollop-Wolfgang complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0019054 True Gollop-Wolfgang complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009223 MONDO:0018555 True hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009223 MONDO:0019155 True hypogonadotropic hypogonadism 23 with or without anosmia Leydig cell hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009224 MONDO:0016555 True fetal iodine syndrome transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009224 MONDO:0016677 True fetal iodine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009226 MONDO:0016068 True fibrochondrogenesis 1 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009227 MONDO:0016824 True myofibromatosis, infantile, 1 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009228 MONDO:0015161 True gingival fibromatosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009229 MONDO:0019707 True hyaline fibromatosis syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009231 MONDO:0006025 True acromesomelic dysplasia 2B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009231 MONDO:0018234 True acromesomelic dysplasia 2B dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009231 MONDO:0019054 True acromesomelic dysplasia 2B congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009231 MONDO:0019696 True acromesomelic dysplasia 2B acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009232 MONDO:0018234 True Fuhrmann syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009232 MONDO:0019054 True Fuhrmann syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009233 MONDO:0015161 True Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009234 MONDO:0021181 True congenital high-molecular-weight kininogen deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009235 MONDO:0019118 True familial benign flecked retina inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009237 MONDO:0005108 True focal epithelial hyperplasia viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009238 MONDO:0016624 True hereditary folate malabsorption inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009238 MONDO:0017313 True hereditary folate malabsorption disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009239 MONDO:0018555 True hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009240 MONDO:0016624 True formiminoglutamic aciduria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009240 MONDO:0017313 True formiminoglutamic aciduria disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009241 MONDO:0015159 True fountain syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009242 MONDO:0000942 True brittle cornea syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009242 MONDO:0006025 True brittle cornea syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009242 MONDO:0020066 True brittle cornea syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009247 MONDO:0015161 True frontofacionasal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009247 MONDO:0016643 True frontofacionasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009249 MONDO:0017689 True hereditary fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009251 MONDO:0019225 True fructose-1,6-bisphosphatase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009252 MONDO:0017689 True essential fructosuria disorder of fructose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009253 MONDO:0015159 True Fryns syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009254 MONDO:0019251 True fucosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009254 MONDO:0800088 True fucosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009255 MONDO:0018116 True galactokinase deficiency galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009257 MONDO:0018116 True galactose epimerase deficiency galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009258 MONDO:0018116 True classic galactosemia galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009258 MONDO:0019852 True classic galactosemia inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009260 MONDO:0018149 True GM1 gangliosidosis type 1 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009260 MONDO:0800088 True GM1 gangliosidosis type 1 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009261 MONDO:0018149 True GM1 gangliosidosis type 2 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009262 MONDO:0018149 True GM1 gangliosidosis type 3 GM1 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009263 MONDO:0015159 True GAPO syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009263 MONDO:0019287 True GAPO syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009265 MONDO:0016340 True Gaucher disease type I familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0018150 True Gaucher disease type I Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009265 MONDO:0018374 True Gaucher disease type I secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0018383 True Gaucher disease type I osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009265 MONDO:0020143 True Gaucher disease type I cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009266 MONDO:0018150 True Gaucher disease type II Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009267 MONDO:0018150 True Gaucher disease type III Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009268 MONDO:0018150 True Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009269 MONDO:0000127 True geleophysic dysplasia 1 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009270 MONDO:0015161 True genito-palato-cardiac syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009272 MONDO:0019175 True German syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009274 MONDO:0018230 True ghosal hematodiaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009276 MONDO:0000009 True Bernard-Soulier syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009279 MONDO:0002254 True triple-A syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009279 MONDO:0006025 True triple-A syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009279 MONDO:0015129 True triple-A syndrome chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009281 MONDO:0000688 True glutaryl-CoA dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009282 MONDO:0017714 True multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009284 MONDO:0017909 True glutathione synthetase deficiency without 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009287 MONDO:0002413 True glycogen storage disease due to glucose-6-phosphatase deficiency type IA glycogen storage disease I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009288 MONDO:0015134 True glycogen storage disease Ib constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009290 MONDO:0002412 True glycogen storage disease II disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009290 MONDO:0016340 True glycogen storage disease II familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009290 MONDO:0017738 True glycogen storage disease II lysosomal glycogen storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009291 MONDO:0002412 True glycogen storage disease III disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009292 MONDO:0002412 True glycogen storage disease due to glycogen branching enzyme deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009293 MONDO:0002412 True glycogen storage disease V disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009294 MONDO:0002412 True glycogen storage disease VI disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009295 MONDO:0002412 True glycogen storage disease VII disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009297 MONDO:0006510 True familial renal glucosuria renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009297 MONDO:0019226 True familial renal glucosuria glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009299 MONDO:0001967 True 46 XX gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009299 MONDO:0019852 True 46 XX gonadal dysgenesis inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009300 MONDO:0017312 True Perrault syndrome 1 Perrault syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009301 MONDO:0010765 True 46,XY sex reversal 7 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009302 MONDO:0020040 True XY type gonadal dysgenesis-associated anomalies syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009303 MONDO:0007179 True anti-glomerular basement membrane disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009305 MONDO:0003847 True granulocytopenia with immunoglobulin abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009308 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-negative chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009309 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009310 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009312 MONDO:0020087 True lipodystrophy due to peptidic growth factors deficiency hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009315 MONDO:0000429 True congenital factor XII deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009315 MONDO:0021181 True congenital factor XII deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009318 MONDO:0019303 True Hallermann-Streiff syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009319 MONDO:0016987 True pantothenate kinase-associated neurodegeneration neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009319 MONDO:0018117 True pantothenate kinase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009319 MONDO:0018307 True pantothenate kinase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009320 MONDO:0015159 True Hall-Riggs syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009321 MONDO:0019054 True hallux varus-preaxial polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009324 MONDO:0019216 True Hartnup disease inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009326 MONDO:0000465 True congenital heart block atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009329 MONDO:0009937 True pulmonary venoocclusive disease 2 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009330 MONDO:0005094 True hemangiopericytoma, malignant hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009331 MONDO:0019716 True isolated hemihyperplasia overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009333 MONDO:0019175 True mullerian derivatives-lymphangiectasia-polydactyly syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009337 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009338 MONDO:0003778 True hepatic veno-occlusive disease-immunodeficiency syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009339 MONDO:0018841 True congenital bile acid synthesis defect 2 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009341 MONDO:0015159 True Mowat-Wilson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009341 MONDO:0015653 True Mowat-Wilson syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009342 MONDO:0015161 True Hirschsprung disease-hearing loss-polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009345 MONDO:0019228 True histidinemia inborn disorder of histidine metabolism UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009348 MONDO:0004952 True classic Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009349 MONDO:0016296 True holoprosencephaly 1 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009350 MONDO:0002254 True Holzgreve-Wagner-Rehder syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009350 MONDO:0015161 True Holzgreve-Wagner-Rehder syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009351 MONDO:0000698 True homocarnosinosis gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009352 MONDO:0015327 True classic homocystinuria developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009353 MONDO:0017313 True homocystinuria due to methylene tetrahydrofolate reductase deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009353 MONDO:0020127 True homocystinuria due to methylene tetrahydrofolate reductase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009354 MONDO:0018964 True methylcobalamin deficiency type cblE homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009359 MONDO:0002254 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009359 MONDO:0006025 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009359 MONDO:0043009 True multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009360 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 1 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009363 MONDO:0015161 True hydrocephaly-tall stature-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009364 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009366 MONDO:0002045 True normal pressure hydrocephalus communicating hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009367 MONDO:0003847 True McKusick-Kaufman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009367 MONDO:0015161 True McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009368 MONDO:0000463 True urofacial syndrome type 1 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009370 MONDO:0016001 True L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009371 MONDO:0019215 True 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009372 MONDO:0017350 True encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009373 MONDO:0017351 True seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009378 MONDO:0019238 True hyper-beta-alaninemia inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009379 MONDO:0002408 True Rotor syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009380 MONDO:0002408 True Dubin-Johnson syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009383 MONDO:0002408 True transient familial neonatal hyperbilirubinemia hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0001336 True familial lipoprotein lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009387 MONDO:0018637 True familial lipoprotein lipase deficiency familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009388 MONDO:0004736 True hyperlysinemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009388 MONDO:0017351 True hyperlysinemia inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009394 MONDO:0005382 True juvenile Paget disease bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009395 MONDO:0002185 True hyperostosis corticalis generalisata hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009395 MONDO:0018230 True hyperostosis corticalis generalisata skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009398 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 1 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009400 MONDO:0023419 True hyperprolinemia type 1 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009401 MONDO:0023419 True hyperprolinemia type 2 hyperprolinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009402 MONDO:0015161 True acrofrontofacionasal dysostosis 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009404 MONDO:0006025 True hypertelorism, microtia, facial clefting syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009404 MONDO:0015159 True hypertelorism, microtia, facial clefting syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009405 MONDO:0019280 True cervical hypertrichosis-peripheral neuropathy syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009405 MONDO:0020022 True cervical hypertrichosis-peripheral neuropathy syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009406 MONDO:0005516 True hypertrichotic osteochondrodysplasia Cantu type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009411 MONDO:0016165 True autoimmune polyendocrine syndrome type 1 hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009411 MONDO:0017278 True autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009413 MONDO:0015517 True immunodeficiency, common variable, 2 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009414 MONDO:0002412 True glycogen storage disorder due to hepatic glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009415 MONDO:0003847 True hypoglycemia, leucine-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009416 MONDO:0003847 True hypoinsulinemic hypoglycemia and body hemihypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009416 MONDO:0019716 True hypoinsulinemic hypoglycemia and body hemihypertrophy overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009419 MONDO:0015770 True Woodhouse-Sakati syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009419 MONDO:0018307 True Woodhouse-Sakati syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009419 MONDO:0044807 True Woodhouse-Sakati syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009424 MONDO:0015231 True Bartter disease type 2 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009426 MONDO:0002254 True hypoparathyroidism-retardation-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009426 MONDO:0006025 True hypoparathyroidism-retardation-dysmorphism syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009426 MONDO:0015159 True hypoparathyroidism-retardation-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009431 MONDO:0000044 True hereditary hypophosphatemic rickets with hypercalciuria hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009433 MONDO:0004933 True hypoplastic left heart syndrome 1 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009434 MONDO:0021094 True hypoproteinemia, hypercatabolic immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009435 MONDO:0015159 True hypospadias-intellectual disability, Goldblatt type syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009437 MONDO:0005151 True Bamforth-Lazarus syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009440 MONDO:0018781 True ichthyosiform erythroderma, corneal involvement, and hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009441 MONDO:0017265 True autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009444 MONDO:0019287 True ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009445 MONDO:0100309 True ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009448 MONDO:0019216 True iminoglycinuria inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009451 MONDO:0001222 True Nezelof syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009452 MONDO:0002254 True Vici syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009452 MONDO:0006025 True Vici syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009452 MONDO:0015161 True Vici syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009454 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009458 MONDO:0015708 True Schimke immuno-osseous dysplasia immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009461 MONDO:0004983 True spermatogenic failure 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009461 MONDO:0018394 True spermatogenic failure 5 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009465 MONDO:0006025 True multiple intestinal atresia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009468 MONDO:0006810 True pseudotumor cerebri intracranial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009469 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 1 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009470 MONDO:0017579 True Baraitser-Winter syndrome 1 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009475 MONDO:0019215 True isovaleric acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009477 MONDO:0015159 True Stromme syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009477 MONDO:0016575 True Stromme syndrome primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009477 MONDO:0043009 True Stromme syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009478 MONDO:0018037 True combined immunodeficiency due to DOCK8 deficiency hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009479 MONDO:0006025 True Johanson-Blizzard syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009479 MONDO:0015159 True Johanson-Blizzard syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0015369 True Joubert syndrome with oculorenal defect Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009480 MONDO:0020022 True Joubert syndrome with oculorenal defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009483 MONDO:0015159 True Kapur-Toriello syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009484 MONDO:0016575 True primary ciliary dyskinesia 1 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009485 MONDO:0003847 True oculocerebrofacial syndrome, Kaufman type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009485 MONDO:0015159 True oculocerebrofacial syndrome, Kaufman type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009486 MONDO:0006025 True autosomal recessive Kenny-Caffey syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009486 MONDO:0016516 True autosomal recessive Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009489 MONDO:0017666 True hereditary palmoplantar keratoderma, Gamborg-Nielsen type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0006025 True Papillon-Lefevre disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009490 MONDO:0015978 True Papillon-Lefevre disease functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0017666 True Papillon-Lefevre disease diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0017739 True Papillon-Lefevre disease disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0017666 True Haim-Munk syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009491 MONDO:0017739 True Haim-Munk syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009492 MONDO:0019229 True succinyl-CoA:3-ketoacid CoA transferase deficiency inborn disorder of ketolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009493 MONDO:0100309 True Richards-Rundle syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0015159 True Keutel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0019701 True Keutel syndrome chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009498 MONDO:0018230 True lethal Kniest-like dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009499 MONDO:0019046 True Krabbe disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009499 MONDO:0019255 True Krabbe disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009501 MONDO:0020123 True metabolic myopathy due to lactate transporter defect metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009504 MONDO:0016796 True mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009506 MONDO:0015978 True specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009507 MONDO:0015159 True Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009509 MONDO:0000414 True Landau-Kleffner syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009509 MONDO:0020072 True Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009511 MONDO:0015286 True Larsen-like syndrome, B3GAT3 type congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009511 MONDO:0015327 True Larsen-like syndrome, B3GAT3 type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009511 MONDO:0018230 True Larsen-like syndrome, B3GAT3 type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009512 MONDO:0019755 True lethal Larsen-like syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009513 MONDO:0017612 True laryngo-onycho-cutaneous syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009514 MONDO:0002254 True Laurence-Moon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009514 MONDO:0006025 True Laurence-Moon syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009514 MONDO:0015159 True Laurence-Moon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009514 MONDO:0015770 True Laurence-Moon syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009515 MONDO:0001822 True Norum disease hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009515 MONDO:0018999 True Norum disease LCAT deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009516 MONDO:0018234 True absence deformity of leg-cataract syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009516 MONDO:0019054 True absence deformity of leg-cataract syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009517 MONDO:0002254 True Donohue syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009517 MONDO:0006025 True Donohue syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009517 MONDO:0015161 True Donohue syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009520 MONDO:0017713 True 3-hydroxy-3-methylglutaric aciduria disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009520 MONDO:0019215 True 3-hydroxy-3-methylglutaric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009522 MONDO:0019287 True Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009523 MONDO:0015134 True Lichtenstein syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0015159 True intellectual disability-spasticity-ectrodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0018234 True intellectual disability-spasticity-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009524 MONDO:0019054 True intellectual disability-spasticity-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009525 MONDO:0016576 True split hand-foot malformation 3 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009525 MONDO:0016961 True split hand-foot malformation 3 partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009527 MONDO:0006025 True lipase deficiency, combined autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009527 MONDO:0018637 True lipase deficiency, combined familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009528 MONDO:0017774 True chylomicron retention disease hypobetalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009529 MONDO:0009563 True pyruvate dehydrogenase E3 deficiency maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009529 MONDO:0018424 True pyruvate dehydrogenase E3 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009529 MONDO:0019169 True pyruvate dehydrogenase E3 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009530 MONDO:0002525 True lipoid proteinosis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009530 MONDO:0021154 True lipoid proteinosis dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009532 MONDO:0002254 True Miller-Dieker lissencephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009532 MONDO:0015146 True Miller-Dieker lissencephaly syndrome classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009532 MONDO:0022754 True Miller-Dieker lissencephaly syndrome chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0015161 True Dahlberg-Borer-Newcomer syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0019287 True Dahlberg-Borer-Newcomer syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009537 MONDO:0002429 True lymphoid interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009543 MONDO:0015159 True prominent glabella-microcephaly-hypogenitalism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009548 MONDO:0017624 True renal hypomagnesemia 5 with ocular involvement familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009550 MONDO:0017624 True renal hypomagnesemia 3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009552 MONDO:0017666 True mal de Meleda diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009554 MONDO:0017398 True 3MC syndrome 3 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009557 MONDO:0016584 True mandibuloacral dysplasia with type A lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009557 MONDO:0021106 True mandibuloacral dysplasia with type A lipodystrophy laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009558 MONDO:0002457 True Treacher Collins syndrome 3 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009561 MONDO:0019251 True alpha-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009561 MONDO:0800088 True alpha-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0019251 True beta-mannosidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0020127 True beta-mannosidosis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009562 MONDO:0800088 True beta-mannosidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009563 MONDO:0000688 True maple syrup urine disease inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009563 MONDO:0019242 True maple syrup urine disease inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009564 MONDO:0015159 True Marden-Walker syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009564 MONDO:0015168 True Marden-Walker syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009565 MONDO:0015159 True microcephaly-glomerulonephritis-marfanoid habitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009566 MONDO:0015159 True marfanoid habitus-autosomal recessive intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009567 MONDO:0002254 True Marinesco-Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009567 MONDO:0020046 True Marinesco-Sjogren syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009568 MONDO:0019064 True mast syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009570 MONDO:0015159 True McDonough syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009571 MONDO:0018921 True Meckel syndrome, type 1 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009575 MONDO:0000152 True thiamine-responsive megaloblastic anemia syndrome thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009575 MONDO:0006025 True thiamine-responsive megaloblastic anemia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009575 MONDO:0020112 True thiamine-responsive megaloblastic anemia syndrome vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009576 MONDO:0000942 True megalocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009576 MONDO:0003847 True megalocornea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009579 MONDO:0019690 True Frank-Ter Haar syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009580 MONDO:0019502 True intellectual disability, autosomal recessive 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009581 MONDO:0015159 True intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009584 MONDO:0015159 True intellectual disability, Buenos-Aires type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009588 MONDO:0018230 True Langer mesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009589 MONDO:0015161 True mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009589 MONDO:0018230 True mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009591 MONDO:0018868 True metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009592 MONDO:0018230 True metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009594 MONDO:0018230 True metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009595 MONDO:0006025 True cartilage-hair hypoplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009595 MONDO:0015708 True cartilage-hair hypoplasia immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009595 MONDO:0019287 True cartilage-hair hypoplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009597 MONDO:0018230 True metaphyseal chondrodysplasia, Spahr type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009599 MONDO:0018230 True metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009603 MONDO:0019215 True 3-hydroxyisobutyryl-CoA hydrolase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009607 MONDO:0019222 True methionine adenosyltransferase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009609 MONDO:0018964 True methylcobalamin deficiency type cblG homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009610 MONDO:0017359 True 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009611 MONDO:0017359 True 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009612 MONDO:0002012 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009612 MONDO:0019215 True methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009613 MONDO:0017214 True methylmalonic aciduria, cblA type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009614 MONDO:0017214 True methylmalonic aciduria, cblB type vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009617 MONDO:0016660 True microcephaly 1, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009618 MONDO:0015159 True microcephaly-cardiomyopathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009620 MONDO:0003778 True Say-Barber-Miller syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009620 MONDO:0015159 True Say-Barber-Miller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009621 MONDO:0015159 True microcephaly-cervical spine fusion anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009622 MONDO:0015159 True Jawad syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009623 MONDO:0006025 True Nijmegen breakage syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009623 MONDO:0015161 True Nijmegen breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009624 MONDO:0000181 True microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009624 MONDO:0002254 True microcephaly and chorioretinopathy 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009624 MONDO:0019118 True microcephaly and chorioretinopathy 1 inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009625 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia syndrome 1 diencephalic-mesencephalic junction dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009626 MONDO:0006025 True pseudo-TORCH syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009627 MONDO:0002254 True Galloway-Mowat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009629 MONDO:0015426 True Desbuquois dysplasia 1 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009630 MONDO:0000170 True microphthalmia, isolated, with coloboma 4 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009636 MONDO:0019236 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009636 MONDO:0100512 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009646 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 1 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009648 MONDO:0015914 True peripheral motor neuropathy-dysautonomia syndrome primary orthostatic hypotension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009649 MONDO:0016820 True moyamoya disease 1 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009650 MONDO:0800088 True mucolipidosis type II lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009652 MONDO:0031422 True GNPTG-mucolipidosis familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009652 MONDO:0800088 True GNPTG-mucolipidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009653 MONDO:0031422 True mucolipidosis type IV familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009655 MONDO:0018937 True mucopolysaccharidosis type 3A mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009655 MONDO:0800088 True mucopolysaccharidosis type 3A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009656 MONDO:0018937 True mucopolysaccharidosis type 3B mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009656 MONDO:0800088 True mucopolysaccharidosis type 3B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009657 MONDO:0018937 True mucopolysaccharidosis type 3C mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009657 MONDO:0800088 True mucopolysaccharidosis type 3C lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009658 MONDO:0018937 True mucopolysaccharidosis type 3D mucopolysaccharidosis type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009658 MONDO:0800088 True mucopolysaccharidosis type 3D lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009659 MONDO:0018938 True mucopolysaccharidosis type 4A mucopolysaccharidosis type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009659 MONDO:0800088 True mucopolysaccharidosis type 4A lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009660 MONDO:0018938 True mucopolysaccharidosis type 4B mucopolysaccharidosis type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009660 MONDO:0800088 True mucopolysaccharidosis type 4B lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009661 MONDO:0019249 True mucopolysaccharidosis type 6 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009661 MONDO:0800088 True mucopolysaccharidosis type 6 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009662 MONDO:0019249 True mucopolysaccharidosis type 7 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009662 MONDO:0800088 True mucopolysaccharidosis type 7 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009664 MONDO:0002254 True mulibrey nanism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009664 MONDO:0006025 True mulibrey nanism autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009665 MONDO:0015454 True biotinidase deficiency multiple carboxylase deficiency UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009665 MONDO:0020127 True biotinidase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009666 MONDO:0015454 True holocarboxylase synthetase deficiency multiple carboxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009667 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009668 MONDO:0017415 True lethal multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009669 MONDO:0019079 True spinal muscular atrophy, type 1 proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0002254 True lethal congenital contracture syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009670 MONDO:0015161 True lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0015929 True lethal congenital contracture syndrome 1 thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009670 MONDO:0017436 True lethal congenital contracture syndrome 1 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009671 MONDO:0019952 True intellectual disability-myopathy-short stature-endocrine defect syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009672 MONDO:0019079 True spinal muscular atrophy, type III proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009673 MONDO:0019079 True spinal muscular atrophy, type II proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009675 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009676 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009676 MONDO:0016145 True autosomal recessive limb-girdle muscular dystrophy type 2B qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009677 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009677 MONDO:0016143 True autosomal recessive limb-girdle muscular dystrophy type 2C qualitative or quantitative defects of gamma-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009677 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2C familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009678 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009680 MONDO:0019950 True congenital muscular dystrophy-infantile cataract-hypogonadism syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009681 MONDO:0000355 True Ullrich congenital muscular dystrophy 1 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009683 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009683 MONDO:0016153 True autosomal recessive limb-girdle muscular dystrophy type 2H qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009685 MONDO:0018949 True Miyoshi myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009689 MONDO:0018940 True congenital myasthenic syndrome 6 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009691 MONDO:0000607 True mycosis fungoides primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009691 MONDO:0015821 True mycosis fungoides mycosis fungoides and variants UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009692 MONDO:0015610 True primary myelofibrosis acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009693 MONDO:0005170 True plasma cell myeloma myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009694 MONDO:0015978 True myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009696 MONDO:0000415 True juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009696 MONDO:0017704 True juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009704 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, myopathic form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009705 MONDO:0017716 True carnitine palmitoyl transferase 1A deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009706 MONDO:0020123 True hereditary myopathy with lactic acidosis due to ISCU deficiency metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009708 MONDO:0019952 True myopathy, myosin storage, autosomal recessive congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009709 MONDO:0015705 True myopathy, centronuclear, 2 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009710 MONDO:0019119 True Thomsen and Becker disease muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009712 MONDO:0018948 True congenital multicore myopathy with external ophthalmoplegia multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009713 MONDO:0001384 True myopia 18, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009717 MONDO:0016151 True Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009720 MONDO:0015161 True Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009722 MONDO:0019952 True Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009723 MONDO:0016387 True Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009723 MONDO:0020127 True Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009726 MONDO:0006025 True proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009726 MONDO:0019751 True proteosome-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009727 MONDO:0000389 True atelosteogenesis type II atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009728 MONDO:0005308 True nephronophthisis 1 ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009728 MONDO:0019005 True nephronophthisis 1 nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009731 MONDO:0015161 True nephrosis-deafness-urinary tract-digital malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009732 MONDO:0002350 True congenital nephrotic syndrome, Finnish type familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009733 MONDO:0002350 True nephrotic syndrome, type 4 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009734 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009735 MONDO:0006025 True Netherton syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009735 MONDO:0015947 True Netherton syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009735 MONDO:0018037 True Netherton syndrome hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009736 MONDO:0000179 True Neu-Laxova syndrome 1 Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009737 MONDO:0019251 True galactosialidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009737 MONDO:0800088 True galactosialidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0017734 True sialidosis type 2 sialidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0031422 True sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009738 MONDO:0800088 True sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009740 MONDO:0015159 True neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009747 MONDO:0100512 True mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009748 MONDO:0015150 True hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009748 MONDO:0020127 True hereditary sensory and autonomic neuropathy with spastic paraplegia hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009749 MONDO:0000128 True giant axonal neuropathy 1 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009751 MONDO:0015364 True neuropathy, hereditary sensory, atypical hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009755 MONDO:0005073 True neutrophil actin dysfunction melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009758 MONDO:0016293 True congenital stationary night blindness 1B congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009759 MONDO:0000141 True mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009760 MONDO:0015204 True Norman-Roberts syndrome microlissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009761 MONDO:0002013 True cystic hygroma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009762 MONDO:0005712 True nystagmus, congenital, autosomal recessive congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009764 MONDO:0005328 True ocular motor apraxia, Cogan type eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009767 MONDO:0017305 True oculocerebral hypopigmentation syndrome, Cross type syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009769 MONDO:0015159 True oculo-palato-cerebral syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009771 MONDO:0019287 True oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009773 MONDO:0017666 True odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009774 MONDO:0017919 True cloacal exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009777 MONDO:0015159 True Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009779 MONDO:0006025 True autosomal recessive omodysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009779 MONDO:0017136 True autosomal recessive omodysplasia omodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009780 MONDO:0015159 True lethal omphalocele-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009783 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009786 MONDO:0043878 True optic atrophy 6 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009792 MONDO:0015161 True ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009792 MONDO:0015947 True ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009794 MONDO:0015929 True orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009794 MONDO:0019691 True orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009795 MONDO:0015375 True orofaciodigital syndrome IX orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009796 MONDO:0001898 True ornithine aminotransferase deficiency optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009796 MONDO:0017356 True ornithine aminotransferase deficiency inborn disorder of ornithine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009796 MONDO:0020127 True ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009797 MONDO:0019238 True orotic aciduria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009797 MONDO:0020112 True orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009807 MONDO:0005089 True osteosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009808 MONDO:0000631 True osteoid osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009808 MONDO:0045052 True osteoid osteoma benign osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009810 MONDO:0019707 True autosomal recessive distal osteolysis syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009813 MONDO:0005246 True chronic recurrent multifocal osteomyelitis osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009813 MONDO:0019751 True chronic recurrent multifocal osteomyelitis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009815 MONDO:0019026 True autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009816 MONDO:0019026 True autosomal recessive osteopetrosis 2 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009817 MONDO:0019026 True autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009818 MONDO:0019026 True autosomal recessive osteopetrosis 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009820 MONDO:0002254 True osteoporosis-pseudoglioma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009820 MONDO:0006025 True osteoporosis-pseudoglioma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009821 MONDO:0019702 True lethal osteosclerotic bone dysplasia neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009822 MONDO:0015161 True otoonychoperoneal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009822 MONDO:0018234 True otoonychoperoneal syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009823 MONDO:0002474 True primary hyperoxaluria type 1 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009824 MONDO:0002474 True primary hyperoxaluria type 2 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009830 MONDO:0005180 True parkinsonian-pyramidal syndrome Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009831 MONDO:0002516 True malignant pancreatic neoplasm digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009831 MONDO:0021040 True malignant pancreatic neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009833 MONDO:0002254 True Shwachman-Diamond syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009837 MONDO:0002363 True choroid plexus papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009837 MONDO:0044764 True choroid plexus papilloma benign choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009839 MONDO:0020488 True progressive supranuclear palsy-parkinsonism syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009841 MONDO:0024237 True PEHO syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009843 MONDO:0017226 True hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0018234 True pelviscapular dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0019054 True pelviscapular dysplasia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009848 MONDO:0019296 True dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009849 MONDO:0017708 True hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0000424 True hereditary intrinsic factor deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009852 MONDO:0016624 True hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0019220 True hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009853 MONDO:0016624 True Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009853 MONDO:0019220 True Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009855 MONDO:0019233 True d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0002254 True Peters plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009856 MONDO:0015159 True Peters plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0015327 True Peters plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0017747 True Peters plus syndrome disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009857 MONDO:0005518 True persistent Mullerian duct syndrome pseudohermaphroditism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009858 MONDO:0015159 True Pfeiffer-Palm-Teller syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009859 MONDO:0015161 True PHAVER syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009861 MONDO:0017306 True phenylketonuria disorder of phenylalanine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009862 MONDO:0016543 True dihydropteridine reductase deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009863 MONDO:0016543 True BH4-deficient hyperphenylalaninemia A hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009865 MONDO:0002412 True glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009867 MONDO:0002412 True lethal congenital glycogen storage disease of heart disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009868 MONDO:0002412 True glycogen storage disease IXb disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009870 MONDO:0019278 True pili torti hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009872 MONDO:0006025 True Bjornstad syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009873 MONDO:0019287 True pilodental dysplasia-refractive errors syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0019280 True Rabson-Mendenhall syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009875 MONDO:0018852 True achromatopsia 3 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009876 MONDO:0000050 True isolated growth hormone deficiency type IA isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009877 MONDO:0006025 True Laron syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009877 MONDO:0015892 True Laron syndrome growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009879 MONDO:0000050 True short stature due to growth hormone qualitative anomaly isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009880 MONDO:0013099 True short stature-pituitary and cerebellar defects-small sella turcica syndrome combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009880 MONDO:0018762 True short stature-pituitary and cerebellar defects-small sella turcica syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009883 MONDO:0002243 True alpha-2-plasmin inhibitor deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009883 MONDO:0021181 True alpha-2-plasmin inhibitor deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009885 MONDO:0000009 True Scott syndrome inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0009885 MONDO:0021181 True Scott syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009887 MONDO:0002429 True desquamative interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009889 MONDO:0006025 True autosomal recessive polycystic kidney disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009889 MONDO:0020642 True autosomal recessive polycystic kidney disease polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009891 MONDO:0005571 True acquired polycythemia vera polycythemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009891 MONDO:0020703 True acquired polycythemia vera erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009892 MONDO:0001115 True Chuvash polycythemia familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009892 MONDO:0016540 True Chuvash polycythemia congenital secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009894 MONDO:0018770 True short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009897 MONDO:0009292 True adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009897 MONDO:0020127 True adult polyglucosan body disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009900 MONDO:0015161 True polysyndactyly-cardiac malformation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0017435 True Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0019287 True Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009901 MONDO:0043009 True Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009903 MONDO:0002254 True postaxial acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009903 MONDO:0015161 True postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009903 MONDO:0018237 True postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009904 MONDO:0006510 True Gitelman syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009904 MONDO:0015962 True Gitelman syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009905 MONDO:0015159 True urban-Rogers-Meyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009908 MONDO:0016543 True pterin-4 alpha-carbinolamine dehydratase 1 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0002254 True Wiedemann-Rautenstrauch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009910 MONDO:0015159 True Wiedemann-Rautenstrauch syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0020087 True Wiedemann-Rautenstrauch syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0020732 True Wiedemann-Rautenstrauch syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009914 MONDO:0018230 True pseudodiastrophic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009914 MONDO:0019755 True pseudodiastrophic dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009915 MONDO:0017576 True 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009916 MONDO:0003847 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009916 MONDO:0020040 True 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009917 MONDO:0019161 True autosomal recessive pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009919 MONDO:0019233 True peroxisomal acyl-CoA oxidase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009921 MONDO:0015159 True holoprosencephaly-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0020040 True 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009924 MONDO:0017323 True vitamin D-dependent rickets, type 1 hypocalcemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009925 MONDO:0006025 True autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009926 MONDO:0015161 True autosomal recessive multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0017415 True autosomal recessive multiple pterygium syndrome multiple pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009927 MONDO:0017398 True 3MC syndrome 2 3MC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009928 MONDO:0005275 True pulmonary alveolar microlithiasis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009929 MONDO:0012580 True neonatal acute respiratory distress due to SP-B deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009931 MONDO:0020291 True pulmonary atresia-intact ventricular septum syndrome hypoplastic right heart syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009934 MONDO:0017015 True alveolar capillary dysplasia with misalignment of pulmonary veins primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009937 MONDO:0005385 True pulmonary venoocclusive disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009940 MONDO:0002561 True pycnodysostosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009940 MONDO:0005516 True pycnodysostosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009940 MONDO:0017198 True pycnodysostosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009942 MONDO:0018230 True pyknoachondrogenesis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009943 MONDO:0005516 True Pyle disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009943 MONDO:0018230 True Pyle disease skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009945 MONDO:0019237 True pyridoxine-dependent epilepsy inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009946 MONDO:0019238 True hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009947 MONDO:0017909 True glutathione synthetase deficiency with 5-oxoprolinuria inherited glutathione synthetase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009949 MONDO:0019225 True pyruvate carboxylase deficiency disease disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009950 MONDO:0006506 True pyruvate kinase deficiency of red cells congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009952 MONDO:0015159 True radioulnar synostosis-developmental delay-hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009952 MONDO:0019054 True radioulnar synostosis-developmental delay-hypotonia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009953 MONDO:0005501 True leukocyte adhesion deficiency type II congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009953 MONDO:0017570 True leukocyte adhesion deficiency type II leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009953 MONDO:0017749 True leukocyte adhesion deficiency type II disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0006025 True rapadilino syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009955 MONDO:0015161 True rapadilino syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0018234 True rapadilino syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009955 MONDO:0019054 True rapadilino syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009960 MONDO:0005265 True inflammatory bowel disease 1 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009962 MONDO:0017842 True Senior-Loken syndrome 1 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009963 MONDO:0015159 True Ulbright-Hodes syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009964 MONDO:0018770 True short-rib thoracic dysplasia 9 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009965 MONDO:0002254 True Perlman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009965 MONDO:0019716 True Perlman syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009966 MONDO:0018921 True NPHP3-related Meckel-like syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009966 MONDO:0020022 True NPHP3-related Meckel-like syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009970 MONDO:0017609 True renal tubular dysgenesis of genetic origin renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009973 MONDO:0017855 True reticular dysgenesis T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009973 MONDO:0031520 True reticular dysgenesis familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009974 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis type 1 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009975 MONDO:0000612 True reticulum cell sarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009975 MONDO:0020082 True reticulum cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009978 MONDO:0019118 True retinal degeneration-nanophthalmos-glaucoma syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009979 MONDO:0018973 True reticular dystrophy of the retinal pigment epithelium patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009984 MONDO:0019200 True late-adult onset retinitis pigmentosa retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009987 MONDO:0019200 True autosomal recessive pericentral pigmentary retinopathy retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0009990 MONDO:0015780 True Revesz syndrome dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009990 MONDO:0019118 True Revesz syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009993 MONDO:0005212 True embryonal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009994 MONDO:0005212 True alveolar rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009996 MONDO:0018230 True rhizomelic syndrome, Urbach type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009998 MONDO:0015161 True Richieri Costa-Pereira syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009999 MONDO:0006025 True autosomal recessive Robinow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009999 MONDO:0019978 True autosomal recessive Robinow syndrome Robinow syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010001 MONDO:0019287 True ectodermal dysplasia-blindness syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010002 MONDO:0015951 True Rothmund-Thomson syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010004 MONDO:0000426 True EEC syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010004 MONDO:0002254 True EEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010004 MONDO:0018234 True EEC syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010005 MONDO:0017351 True saccharopinuria inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010006 MONDO:0017720 True Sandhoff disease GM2 gangliosidosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010006 MONDO:0020127 True Sandhoff disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010006 MONDO:0020143 True Sandhoff disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010007 MONDO:0015159 True microbrachycephaly-ptosis-cleft lip syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010008 MONDO:0019239 True sarcosinemia inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010010 MONDO:0019287 True Schinzel-Giedion syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010011 MONDO:0017103 True schizencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010012 MONDO:0017278 True autoimmune polyendocrinopathy type 2 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010013 MONDO:0005516 True schneckenbecken dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010013 MONDO:0015286 True schneckenbecken dysplasia congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010014 MONDO:0018230 True craniometadiaphyseal dysplasia, wormian bone type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010015 MONDO:0019503 True anterior segment dysgenesis 7 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010016 MONDO:0017838 True sclerosteosis 1 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010017 MONDO:0015531 True sea-blue histiocyte syndrome non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010017 MONDO:0019255 True sea-blue histiocyte syndrome sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010020 MONDO:0006536 True congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010023 MONDO:0021094 True combined immunodeficiency due to ZAP70 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010024 MONDO:0018770 True Beemer-Langer syndrome Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010026 MONDO:0002254 True SHORT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010026 MONDO:0020087 True SHORT syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0019366 True free sialic acid storage disease, infantile form free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0800088 True free sialic acid storage disease, infantile form lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010028 MONDO:0017736 True sialuria disorder of sialic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010029 MONDO:0018677 True situs inversus visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010030 MONDO:0000586 True Sjogren syndrome autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010031 MONDO:0006025 True Sjogren-Larsson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010031 MONDO:0018117 True Sjogren-Larsson syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010033 MONDO:0019347 True generalized peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010035 MONDO:0015159 True Smith-Lemli-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010038 MONDO:0015892 True growth delay due to insulin-like growth factor I resistance growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010039 MONDO:0015159 True congenital heart defect-round face-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010041 MONDO:0015244 True Charlevoix-Saguenay spastic ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010041 MONDO:0017847 True Charlevoix-Saguenay spastic ataxia autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010043 MONDO:0015087 True hereditary spastic paraplegia 17 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010043 MONDO:0015362 True hereditary spastic paraplegia 17 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010044 MONDO:0015150 True hereditary spastic paraplegia 15 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010046 MONDO:0015150 True hereditary spastic paraplegia 23 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010047 MONDO:0019064 True hereditary spastic paraplegia 5A hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010049 MONDO:0015150 True spastic paraplegia-glaucoma-intellectual disability syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010052 MONDO:0004983 True spermatogenic failure 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010053 MONDO:0019350 True hereditary spherocytosis type 3 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010056 MONDO:0019079 True spinal muscular atrophy, type IV proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010060 MONDO:0020046 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010060 MONDO:0100512 True mitochondrial DNA depletion syndrome 7 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010062 MONDO:0100309 True spinocerebellar ataxia-dysmorphism syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010064 MONDO:0017847 True spastic ataxia-corneal dystrophy syndrome autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010066 MONDO:0003778 True familial isolated congenital asplenia inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010068 MONDO:0100510 True spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010072 MONDO:0006025 True spondyloepiphyseal dysplasia tarda, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010072 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010073 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, Kohn type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010075 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010077 MONDO:0100510 True spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010078 MONDO:0022800 True spondyloperipheral dysplasia type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010079 MONDO:0017686 True Canavan disease inborn aminoacylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010079 MONDO:0019046 True Canavan disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010080 MONDO:0003122 True familial infantile bilateral striatal necrosis striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010080 MONDO:0015518 True familial infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010083 MONDO:0000698 True succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010087 MONDO:0019054 True Sugarman brachydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0015327 True mucosulfatidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0019255 True mucosulfatidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010088 MONDO:0800088 True mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010089 MONDO:0019358 True isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010090 MONDO:0015338 True Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010092 MONDO:0015159 True Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010094 MONDO:0005497 True spondylocarpotarsal synostosis syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010094 MONDO:0019690 True spondylocarpotarsal synostosis syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010094 MONDO:0019694 True spondylocarpotarsal synostosis syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010095 MONDO:0100309 True ataxia-tapetoretinal degeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010099 MONDO:0017720 True Tay-Sachs disease AB variant GM2 gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010100 MONDO:0017720 True Tay-Sachs disease GM2 gangliosidosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010100 MONDO:0020127 True Tay-Sachs disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010100 MONDO:0020143 True Tay-Sachs disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010101 MONDO:0019287 True Teebi-Shaltout syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010108 MONDO:0018202 True testicular germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010108 MONDO:0021348 True testicular germ cell tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010110 MONDO:0015161 True tetraamelia-multiple malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010110 MONDO:0018234 True tetraamelia-multiple malformations syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010110 MONDO:0019054 True tetraamelia-multiple malformations syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010111 MONDO:0019287 True odontotrichomelic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010115 MONDO:0015929 True thoracic dysplasia-hydrocephalus syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010116 MONDO:0015929 True thoracomelic dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010116 MONDO:0019691 True thoracomelic dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010117 MONDO:0007477 True 3M syndrome 1 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010120 MONDO:0100241 True thrombocytopenia 3 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0002254 True thrombocytopenia-absent radius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010121 MONDO:0018234 True thrombocytopenia-absent radius syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010121 MONDO:0018795 True thrombocytopenia-absent radius syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0019054 True thrombocytopenia-absent radius syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0018896 True congenital thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0021181 True congenital thrombotic thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010125 MONDO:0015159 True upper limb defect-eye and ear abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010129 MONDO:0015161 True thymic-renal-anal-lung dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010130 MONDO:0019238 True dihydropyrimidine dehydrogenase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010132 MONDO:0018612 True familial thyroid dyshormonogenesis congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010133 MONDO:0010132 True thyroid dyshormonogenesis 2A familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010134 MONDO:0002254 True Pendred syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010134 MONDO:0006025 True Pendred syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010134 MONDO:0018612 True Pendred syndrome congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010135 MONDO:0010132 True thyroid dyshormonogenesis 3 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010136 MONDO:0010132 True thyroid dyshormonogenesis 4 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010137 MONDO:0010132 True thyroid dyshormonogenesis 5 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010139 MONDO:0000045 True isolated thyroid-stimulating hormone deficiency hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010139 MONDO:0016410 True isolated thyroid-stimulating hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010139 MONDO:0019824 True isolated thyroid-stimulating hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010142 MONDO:0000045 True hypothyroidism due to TSH receptor mutations hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010144 MONDO:0016240 True tibial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0000424 True transcobalamin II deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010149 MONDO:0016624 True transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0019220 True transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010152 MONDO:0019287 True trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010153 MONDO:0019287 True trichoodontoonychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010154 MONDO:0015161 True trigonocephaly-bifid nose-acral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010155 MONDO:0015611 True Dorfman-Chanarin disease neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010156 MONDO:0015150 True Troyer syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010159 MONDO:0031219 True mismatch repair cancer syndrome 1 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010160 MONDO:0004741 True tyrosinemia type II tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010160 MONDO:0017672 True tyrosinemia type II focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010161 MONDO:0004741 True tyrosinemia type I tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010162 MONDO:0004741 True tyrosinemia type III tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010164 MONDO:0018234 True phocomelia, Schinzel type dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010164 MONDO:0019054 True phocomelia, Schinzel type congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010165 MONDO:0018234 True ulna hypoplasia-intellectual disability syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010165 MONDO:0019054 True ulna hypoplasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010167 MONDO:0019228 True urocanic aciduria inborn disorder of histidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010168 MONDO:0019501 True Usher syndrome type 1 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010169 MONDO:0016484 True Usher syndrome type 2A Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010170 MONDO:0016485 True Usher syndrome type 3A Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010171 MONDO:0010168 True Usher syndrome type 1C Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010173 MONDO:0017771 True Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010176 MONDO:0015375 True orofaciodigital syndrome type 6 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010176 MONDO:0020022 True orofaciodigital syndrome type 6 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010178 MONDO:0018801 True congenital bilateral aplasia of vas deferens from CFTR mutation congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010179 MONDO:0020291 True isolated right ventricular hypoplasia hypoplastic right heart syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010180 MONDO:0017747 True autosomal recessive spondylocostal dysostosis disorder of fucoglycosan synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010183 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010184 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010184 MONDO:0020127 True methylmalonic aciduria and homocystinuria type cblC hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010185 MONDO:0016826 True methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010187 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 1 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010188 MONDO:0005528 True familial isolated deficiency of vitamin E inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010188 MONDO:0020044 True familial isolated deficiency of vitamin E autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010188 MONDO:0020127 True familial isolated deficiency of vitamin E hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010190 MONDO:0016759 True pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010191 MONDO:0019565 True von Willebrand disease 3 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010193 MONDO:0002254 True Weaver syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010193 MONDO:0015159 True Weaver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010193 MONDO:0018230 True Weaver syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010193 MONDO:0019716 True Weaver syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010194 MONDO:0018096 True Weill-Marchesani syndrome 1 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010196 MONDO:0002254 True Werner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010196 MONDO:0006025 True Werner syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010196 MONDO:0015333 True Werner syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010197 MONDO:0008675 True whistling face syndrome, recessive form Freeman-Sheldon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010198 MONDO:0006873 True Wernicke-Korsakoff syndrome nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010199 MONDO:0015161 True white forelock with malformations multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010200 MONDO:0004689 True Wilson disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010200 MONDO:0017762 True Wilson disease disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010203 MONDO:0015159 True intellectual disability, Wolff type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010206 MONDO:0003037 True hypotrichosis 8 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010208 MONDO:0018163 True wrinkly skin syndrome autosomal recessive cutis laxa type 2A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010209 MONDO:0018106 True xanthinuria type I hereditary xanthinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010210 MONDO:0019600 True xeroderma pigmentosum group A xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010211 MONDO:0019600 True xeroderma pigmentosum group C xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010212 MONDO:0019600 True xeroderma pigmentosum group D xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010213 MONDO:0019600 True xeroderma pigmentosum group E xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010214 MONDO:0019600 True xeroderma pigmentosum variant type xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010215 MONDO:0019600 True xeroderma pigmentosum group F xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010216 MONDO:0019600 True xeroderma pigmentosum group G xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010217 MONDO:0002254 True de Sanctis-Cacchione syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010217 MONDO:0003847 True de Sanctis-Cacchione syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010218 MONDO:0100249 True 46,XX sex reversal 2 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010221 MONDO:0015159 True CHIME syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0015327 True CHIME syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0017748 True CHIME syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0019287 True CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010224 MONDO:0002254 True corpus callosum agenesis-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010224 MONDO:0003847 True corpus callosum agenesis-abnormal genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010228 MONDO:0019586 True hearing loss, X-linked 3 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010229 MONDO:0000005 True alopecia, congenital alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010230 MONDO:0019181 True intellectual disability, X-linked 23 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010231 MONDO:0019181 True intellectual disability, X-linked 20 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010232 MONDO:0003847 True intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010233 MONDO:0020341 True heterotopia, periventricular, X-linked dominant periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010235 MONDO:0020119 True X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010236 MONDO:0019181 True intellectual disability, X-linked 14 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010237 MONDO:0015159 True X-linked intellectual disability-plagiocephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010237 MONDO:0015338 True X-linked intellectual disability-plagiocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010238 MONDO:0019586 True hearing loss, X-linked 4 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010239 MONDO:0015146 True lissencephaly type 1 due to doublecortin gene mutation classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010242 MONDO:0008824 True fetal akinesia syndrome, X-linked fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010243 MONDO:0003778 True X-linked immunoneurologic disorder inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010246 MONDO:0016160 True developmental and epileptic encephalopathy, 9 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010246 MONDO:0100062 True developmental and epileptic encephalopathy, 9 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010247 MONDO:0018544 True X-linked cerebral adrenoleukodystrophy adrenoleukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010250 MONDO:0020119 True intellectual disability, X-linked 49 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010251 MONDO:0019181 True intellectual disability, X-linked 50 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010253 MONDO:0100246 True migraine, familial typical, susceptibility to, 2 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010256 MONDO:0019181 True intellectual disability, X-linked 21 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010258 MONDO:0020119 True MEHMO syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010259 MONDO:0019200 True retinitis pigmentosa 24 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010261 MONDO:0016073 True microphthalmia, syndromic 2 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010263 MONDO:0002254 True Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010264 MONDO:0000425 True X-linked adrenal hypoplasia congenita X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010264 MONDO:0015129 True X-linked adrenal hypoplasia congenita chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0015770 True X-linked adrenal hypoplasia congenita congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010265 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010266 MONDO:0019181 True intellectual disability, X-linked 58 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010268 MONDO:0000425 True X-linked lissencephaly with abnormal genitalia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010268 MONDO:0018838 True X-linked lissencephaly with abnormal genitalia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010269 MONDO:0004348 True Coats disease retinal telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010270 MONDO:0015159 True syndromic X-linked intellectual disability 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010270 MONDO:0020119 True syndromic X-linked intellectual disability 7 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010271 MONDO:0017007 True X-linked myotubular myopathy-abnormal genitalia syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010271 MONDO:0020040 True X-linked myotubular myopathy-abnormal genitalia syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010277 MONDO:0015159 True syndromic X-linked intellectual disability Shashi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010277 MONDO:0020119 True syndromic X-linked intellectual disability Shashi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010278 MONDO:0003847 True Christianson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010279 MONDO:0019690 True terminal osseous dysplasia-pigmentary defects syndrome filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010279 MONDO:0019695 True terminal osseous dysplasia-pigmentary defects syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010281 MONDO:0002412 True Danon disease disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010281 MONDO:0017738 True Danon disease lysosomal glycogen storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0015159 True syndromic X-linked intellectual disability Lubs type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0017010 True syndromic X-linked intellectual disability Lubs type partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0020119 True syndromic X-linked intellectual disability Lubs type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010285 MONDO:0015159 True syndromic X-linked intellectual disability Abidi type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010285 MONDO:0020119 True syndromic X-linked intellectual disability Abidi type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010286 MONDO:0015159 True syndromic X-linked intellectual disability Siderius type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010286 MONDO:0020119 True syndromic X-linked intellectual disability Siderius type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010287 MONDO:0019064 True hereditary spastic paraplegia 16 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010289 MONDO:0019181 True intellectual disability, X-linked 72 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010290 MONDO:0000334 True goiter, multinodular 2 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010293 MONDO:0003778 True ectodermal dysplasia and immune deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010294 MONDO:0000425 True X-linked severe congenital neutropenia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010294 MONDO:0018542 True X-linked severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010295 MONDO:0017198 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010295 MONDO:0019287 True anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010296 MONDO:0015977 True immunodeficiency 61 agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010297 MONDO:0002010 True FG syndrome 2 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010298 MONDO:0016088 True Lesch-Nyhan syndrome hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010299 MONDO:0016088 True hypoxanthine guanine phosphoribosyltransferase partial deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010300 MONDO:0019181 True intellectual disability, X-linked 53 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010305 MONDO:0000456 True creatine transporter deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010305 MONDO:0015159 True creatine transporter deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010306 MONDO:0015159 True X-linked intellectual disability, Cabezas type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010306 MONDO:0020119 True X-linked intellectual disability, Cabezas type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010307 MONDO:0019181 True intellectual disability, X-linked 73 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010309 MONDO:0019181 True intellectual disability, X-linked 42 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010310 MONDO:0017198 True osteopathia striata with cranial sclerosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010311 MONDO:0020121 True Becker muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010313 MONDO:0019181 True intellectual disability, X-linked 63 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010315 MONDO:0031520 True T-B+ severe combined immunodeficiency due to gamma chain deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010315 MONDO:0044200 True T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010316 MONDO:0002010 True FG syndrome 3 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or without seizures, arx-related non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010318 MONDO:0002010 True FG syndrome 4 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010319 MONDO:0016160 True syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010321 MONDO:0020836 True autism, susceptibility to, X-linked 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010326 MONDO:0019181 True intellectual disability, X-linked 46 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010328 MONDO:0002254 True alpha-thalassemia-myelodysplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010328 MONDO:0005570 True alpha-thalassemia-myelodysplastic syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010329 MONDO:0019181 True intellectual disability, X-linked 77 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010332 MONDO:0015159 True X-linked intellectual disability-cubitus valgus-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010333 MONDO:0020119 True corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010334 MONDO:0044807 True severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010336 MONDO:0015375 True orofaciodigital syndrome VIII orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010337 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010337 MONDO:0020119 True X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010338 MONDO:0000425 True X-linked distal spinal muscular atrophy type 3 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010338 MONDO:0001516 True X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010338 MONDO:0018894 True X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010339 MONDO:0859390 True epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010341 MONDO:0020836 True autism, susceptibility to, X-linked 2 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010342 MONDO:0020836 True autism, susceptibility to, X-linked 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010350 MONDO:0019852 True premature ovarian failure 2A inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010351 MONDO:0019391 True Fanconi anemia complementation group B Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010352 MONDO:0019181 True intellectual disability, X-linked 82 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010355 MONDO:0015159 True syndromic X-linked intellectual disability Claes-Jensen type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010356 MONDO:0015962 True nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010358 MONDO:0020605 True hypophosphatemic rickets, X-linked recessive X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010362 MONDO:0002412 True glycogen storage disease IXd disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010364 MONDO:0017004 True X-linked intellectual disability-retinitis pigmentosa syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010365 MONDO:0009711 True myopathy, congenital, with fiber-type disproportion, X-linked congenital fiber-type disproportion myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010366 MONDO:0002010 True FG syndrome 5 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010367 MONDO:0018230 True SHOX-related short stature skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010369 MONDO:0005712 True nystagmus 5, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010370 MONDO:0016033 True Cornelia de Lange syndrome 2 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010371 MONDO:0000425 True Aland island eye disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010373 MONDO:0019852 True premature ovarian failure 2B inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010374 MONDO:0019200 True retinitis pigmentosa 34 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010375 MONDO:0016160 True developmental and epileptic encephalopathy, 8 X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010375 MONDO:0100062 True developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010377 MONDO:0001384 True myopia 13, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010378 MONDO:0015364 True X-linked hereditary sensory and autonomic neuropathy with hearing loss hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010378 MONDO:0021944 True X-linked hereditary sensory and autonomic neuropathy with hearing loss auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010379 MONDO:0004736 True Brunner syndrome inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010379 MONDO:0019219 True Brunner syndrome inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010379 MONDO:0020605 True Brunner syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010382 MONDO:0016612 True fragile X-associated tremor/ataxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010383 MONDO:0002254 True fragile X syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010383 MONDO:0003847 True fragile X syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010384 MONDO:0005345 True hypospadias 1, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010385 MONDO:0010627 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010385 MONDO:0020605 True X-linked lymphoproliferative disease due to XIAP deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010386 MONDO:0003778 True immunodeficiency 33 inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010389 MONDO:0017905 True X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked Mendelian susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010390 MONDO:0017304 True ocular albinism with late-onset sensorineural deafness ocular albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010392 MONDO:0002412 True glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010393 MONDO:0019181 True intellectual disability, X-linked 93 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010395 MONDO:0019236 True phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010396 MONDO:0100062 True developmental and epileptic encephalopathy, 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010397 MONDO:0015653 True severe neonatal-onset encephalopathy with microcephaly monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010397 MONDO:0020070 True severe neonatal-onset encephalopathy with microcephaly neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010398 MONDO:0020119 True syndromic X-linked intellectual disability 14 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010399 MONDO:0010613 True chromosome Xp21 deletion syndrome inborn glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010399 MONDO:0017004 True chromosome Xp21 deletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010402 MONDO:0020119 True syndromic X-linked intellectual disability 94 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010403 MONDO:0019290 True albinism-hearing loss syndrome hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010404 MONDO:0016612 True X-linked non progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010406 MONDO:0019181 True chromosome Xp11.22 duplication syndrome non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010407 MONDO:0020119 True intellectual disability, X-linked syndromic, Turner type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010408 MONDO:0002254 True syndactyly-telecanthus-anogenital and renal malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010408 MONDO:0015161 True syndactyly-telecanthus-anogenital and renal malformations syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010408 MONDO:0019054 True syndactyly-telecanthus-anogenital and renal malformations syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010409 MONDO:0020119 True syndromic X-linked intellectual disability Shrimpton type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010410 MONDO:0000005 True alopecia, androgenetic, 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010411 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 4 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010413 MONDO:0019181 True intellectual disability, X-linked 95 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010417 MONDO:0020022 True syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010418 MONDO:0015149 True hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010420 MONDO:0001676 True X-linked erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010421 MONDO:0016462 True Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010424 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 4 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010425 MONDO:0000763 True Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010425 MONDO:0020212 True Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010426 MONDO:0000766 True X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010426 MONDO:0020214 True X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010427 MONDO:0020119 True syndromic X-linked intellectual disability Raymond type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010428 MONDO:0015159 True chromosome Xp11.23-p11.22 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010428 MONDO:0017009 True chromosome Xp11.23-p11.22 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010429 MONDO:0019181 True intellectual disability, X-linked 96 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010430 MONDO:0019181 True intellectual disability, X-linked 97 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010431 MONDO:0018772 True Joubert syndrome 10 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010432 MONDO:0100240 True thrombophilia, X-linked, due to factor 9 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010438 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010440 MONDO:0020836 True autism, susceptibility to, X-linked 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010441 MONDO:0003847 True CK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010442 MONDO:0100249 True 46,XX sex reversal 3 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010444 MONDO:0019403 True X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010448 MONDO:0016820 True moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010449 MONDO:0020836 True autism, susceptibility to, X-linked 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010453 MONDO:0019181 True intellectual disability, X-linked 92 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010454 MONDO:0019181 True intellectual disability, X-linked 88 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010455 MONDO:0015131 True X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010457 MONDO:0015333 True Ogden syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010458 MONDO:0005345 True hypospadias 4, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010459 MONDO:0005144 True amyotrophic lateral sclerosis type 15 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010460 MONDO:0020119 True syndromic X-linked intellectual disability 17 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010461 MONDO:0020119 True syndromic X-linked intellectual disability Nascimento type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010462 MONDO:0020119 True syndromic X-linked intellectual disability Chudley-Schwartz type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010463 MONDO:0002254 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010463 MONDO:0003847 True X-linked dominant chondrodysplasia, Chassaing-Lacombe type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010464 MONDO:0020022 True X-linked cerebral-cerebellar-coloboma syndrome syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010465 MONDO:0016512 True Kabuki syndrome 2 Kabuki syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 2 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0100062 True multiple congenital anomalies-hypotonia-seizures syndrome 2 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010467 MONDO:0017010 True Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010469 MONDO:0020836 True epsilon-trimethyllysine hydroxylase deficiency autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010472 MONDO:0005500 True developmental and epileptic encephalopathy, 36 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010472 MONDO:0017740 True developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010472 MONDO:0100062 True developmental and epileptic encephalopathy, 36 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010473 MONDO:0020119 True X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010474 MONDO:0010672 True linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010475 MONDO:0000425 True X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010475 MONDO:0002254 True X-linked central congenital hypothyroidism with late-onset testicular enlargement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010475 MONDO:0016410 True X-linked central congenital hypothyroidism with late-onset testicular enlargement central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010476 MONDO:0018307 True neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010478 MONDO:0005501 True SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010478 MONDO:0015327 True SLC35A2-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010478 MONDO:0017749 True SLC35A2-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010479 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010484 MONDO:0019586 True hearing loss, X-linked 6 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010485 MONDO:0000425 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010485 MONDO:0015159 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010485 MONDO:0016073 True X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010486 MONDO:0031421 True Olmsted syndrome, X-linked Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010487 MONDO:0019181 True intellectual disability, X-linked 99 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010488 MONDO:0019181 True intellectual disability, X-linked 100 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010489 MONDO:0019181 True intellectual disability, X-linked 101 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010490 MONDO:0005500 True SSR4-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010490 MONDO:0015159 True SSR4-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010490 MONDO:0017740 True SSR4-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010492 MONDO:0017824 True pituitary adenoma, growth hormone-secreting, 2 familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010493 MONDO:0015253 True Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010494 MONDO:0010672 True linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010495 MONDO:0018053 True trichothiodystrophy 5, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010496 MONDO:0015159 True X-linked intellectual disability-short stature-overweight syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010496 MONDO:0020119 True X-linked intellectual disability-short stature-overweight syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010498 MONDO:0019240 True MEND syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010499 MONDO:0019078 True Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010500 MONDO:0020119 True intellectual disability, X-linked, syndromic 33 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010501 MONDO:0015159 True syndromic X-linked intellectual disability 34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010501 MONDO:0020119 True syndromic X-linked intellectual disability 34 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010502 MONDO:0020119 True intellectual disability, X-linked 99, syndromic, female-restricted X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010503 MONDO:0015231 True Bartter disease type 5 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010504 MONDO:0003778 True immunodeficiency 47 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010505 MONDO:0015159 True intellectual disability-balding-patella luxation-acromicria syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010505 MONDO:0019695 True intellectual disability-balding-patella luxation-acromicria syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010506 MONDO:0019181 True intellectual disability, X-linked 61 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010507 MONDO:0017010 True Xq25 microduplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010508 MONDO:0019181 True intellectual disability, X-linked 103 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010509 MONDO:0019181 True intellectual disability, X-linked 104 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010510 MONDO:0019181 True intellectual disability, X-linked 105 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010511 MONDO:0018801 True vas deferens, congenital bilateral aplasia of, X-linked congenital bilateral absence of vas deferens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010512 MONDO:0020119 True intellectual disability, X-linked, syndromic, Bain type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010514 MONDO:0003778 True combined immunodeficiency due to moesin deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010514 MONDO:0021094 True combined immunodeficiency due to moesin deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010515 MONDO:0002254 True Meester-Loeys syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010515 MONDO:0003847 True Meester-Loeys syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010516 MONDO:0003847 True midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010517 MONDO:0016575 True ciliary dyskinesia, primary, 36, X-linked primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010518 MONDO:0000425 True Wiskott-Aldrich syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010518 MONDO:0015356 True Wiskott-Aldrich syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010518 MONDO:0021181 True Wiskott-Aldrich syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010519 MONDO:0020040 True alpha thalassemia-X-linked intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010520 MONDO:0000425 True X-linked Alport syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010520 MONDO:0018965 True X-linked Alport syndrome Alport syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010522 MONDO:0019507 True X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010524 MONDO:0016612 True X-linked sideroblastic anemia with ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010524 MONDO:0020099 True X-linked sideroblastic anemia with ataxia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010526 MONDO:0015327 True Fabry disease developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010526 MONDO:0019255 True Fabry disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010529 MONDO:0016612 True X-linked spinocerebellar ataxia type 3 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010531 MONDO:0019287 True contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010532 MONDO:0001516 True infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010532 MONDO:0015168 True infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010532 MONDO:0024257 True infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010533 MONDO:0003847 True Arts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010534 MONDO:0016612 True X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010538 MONDO:0019054 True Mononen-Karnes-Senac syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010542 MONDO:0016333 True dilated cardiomyopathy 3B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0009637 True Barth syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010543 MONDO:0015134 True Barth syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0016333 True Barth syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0017359 True Barth syndrome 3-methylglutaconic aciduria UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010543 MONDO:0018117 True Barth syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010545 MONDO:0003847 True Nance-Horan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010547 MONDO:0016612 True X-linked progressive cerebellar ataxia X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010548 MONDO:0016612 True spinocerebellar ataxia, X-linked 2 X-linked cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010549 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010550 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010551 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010554 MONDO:0002254 True Abruzzo-Erickson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010554 MONDO:0003847 True Abruzzo-Erickson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010554 MONDO:0015161 True Abruzzo-Erickson syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010556 MONDO:0000425 True X-linked chondrodysplasia punctata X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010557 MONDO:0001898 True choroideremia optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010559 MONDO:0015150 True MASA syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010559 MONDO:0017140 True MASA syndrome L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010560 MONDO:0016064 True cleft palate with or without ankyloglossia, X-linked cleft palate UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010563 MONDO:0018852 True blue cone monochromacy achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010563 MONDO:0020605 True blue cone monochromacy X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010565 MONDO:0001703 True red color blindness color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010565 MONDO:0005328 True red color blindness eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010568 MONDO:0002254 True Aicardi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010569 MONDO:0017140 True X-linked complicated corpus callosum dysgenesis L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010570 MONDO:0002254 True craniofrontonasal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010572 MONDO:0017762 True occipital horn syndrome disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0015159 True syndromic X-linked intellectual disability 5 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0020022 True syndromic X-linked intellectual disability 5 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0020119 True syndromic X-linked intellectual disability 5 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010576 MONDO:0019586 True X-linked mixed hearing loss with perilymphatic gusher X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010577 MONDO:0019586 True hearing loss, X-linked 1 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010578 MONDO:0024237 True deafness dystonia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010580 MONDO:0003847 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010580 MONDO:0015126 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010580 MONDO:0019787 True immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010581 MONDO:0000425 True diabetes insipidus, nephrogenic, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010581 MONDO:0016383 True diabetes insipidus, nephrogenic, X-linked nephrogenic diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010584 MONDO:0000425 True dyskeratosis congenita, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010585 MONDO:0000425 True X-linked hypohidrotic ectodermal dysplasia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010585 MONDO:0016535 True X-linked hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010586 MONDO:0020066 True X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010588 MONDO:0000425 True exudative vitreoretinopathy 2, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010588 MONDO:0019516 True exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010589 MONDO:0000425 True Aarskog-Scott syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010589 MONDO:0021005 True Aarskog-Scott syndrome, X-linked faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010590 MONDO:0002010 True FG syndrome 1 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010591 MONDO:0019952 True fingerprint body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010592 MONDO:0019755 True focal dermal hypoplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010600 MONDO:0018305 True granulomatous disease, chronic, X-linked chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010602 MONDO:0000425 True hemophilia A X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010602 MONDO:0018660 True hemophilia A hemophilia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010602 MONDO:0021181 True hemophilia A inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010604 MONDO:0018660 True hemophilia B hemophilia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010604 MONDO:0021181 True hemophilia B inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010606 MONDO:0005711 True hernia, anterior diaphragmatic congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010607 MONDO:0018677 True heterotaxy, visceral, 1, X-linked visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010610 MONDO:0020022 True holoprosencephaly-hypokinesia-congenital contractures syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010611 MONDO:0016349 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010611 MONDO:0017140 True X-linked hydrocephalus with stenosis of the aqueduct of Sylvius L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010613 MONDO:0019052 True inborn glycerol kinase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010614 MONDO:0016381 True X-linked congenital generalized hypertrichosis hypertrichosis lanuginosa congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010615 MONDO:0000050 True isolated growth hormone deficiency type III isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010617 MONDO:0015159 True male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010619 MONDO:0020604 True X-linked dominant hypophosphatemic rickets X-linked dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010621 MONDO:0015161 True CHILD syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0017269 True CHILD syndrome X-linked ichthyosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0019240 True CHILD syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0019701 True CHILD syndrome chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010622 MONDO:0015947 True recessive X-linked ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010622 MONDO:0020605 True recessive X-linked ichthyosis X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010626 MONDO:0000425 True hyper-IgM syndrome type 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010627 MONDO:0000425 True X-linked lymphoproliferative syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010627 MONDO:0015541 True X-linked lymphoproliferative syndrome hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010627 MONDO:0016537 True X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010631 MONDO:0019287 True incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010637 MONDO:0000136 True keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010641 MONDO:0017007 True X-linked diffuse leiomyomatosis-Alport syndrome partial deletion of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010643 MONDO:0005059 True acute leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010645 MONDO:0002254 True oculocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010645 MONDO:0015962 True oculocerebrorenal syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010645 MONDO:0019216 True oculocerebrorenal syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010647 MONDO:0004983 True spermatogenic failure, X-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010650 MONDO:0018233 True Melnick-Needles syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010651 MONDO:0004689 True Menkes disease inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010651 MONDO:0017762 True Menkes disease disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010653 MONDO:0020119 True Renpenning syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010654 MONDO:0020119 True Partington syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010655 MONDO:0015159 True X-linked intellectual disability with marfanoid habitus multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010656 MONDO:0019181 True intellectual disability, X-linked 1 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010657 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblX methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010657 MONDO:0019181 True methylmalonic acidemia with homocystinuria, type cblX non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010658 MONDO:0020119 True syndromic X-linked intellectual disability 12 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010659 MONDO:0019181 True FRAXE intellectual disability non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010660 MONDO:0019181 True intellectual disability, X-linked 9 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010661 MONDO:0020119 True severe X-linked intellectual disability, Gustavson type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010664 MONDO:0020119 True syndromic X-linked intellectual disability Snyder type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010665 MONDO:0020119 True Wilson-Turner syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010667 MONDO:0020119 True Prieto syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010668 MONDO:0019694 True skeletal dysplasia-intellectual disability syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010669 MONDO:0019530 True syndactyly type 8 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010671 MONDO:0016073 True microphthalmia, syndromic 1 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010672 MONDO:0016073 True linear skin defects with multiple congenital anomalies syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010672 MONDO:0019294 True linear skin defects with multiple congenital anomalies mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010674 MONDO:0019249 True mucopolysaccharidosis type 2 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010674 MONDO:0800088 True mucopolysaccharidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010679 MONDO:0020121 True Duchenne muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010680 MONDO:0016830 True X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010683 MONDO:0018947 True X-linked myotubular myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010684 MONDO:0016106 True X-linked myopathy with excessive autophagy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010684 MONDO:0016112 True X-linked myopathy with excessive autophagy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010685 MONDO:0001384 True myopia 1, X-linked myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010686 MONDO:0015159 True N syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010686 MONDO:0015356 True N syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010688 MONDO:0015364 True hereditary sensory neuropathy X-linked hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010689 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010693 MONDO:0005712 True nystagmus 1, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010698 MONDO:0043878 True optic atrophy 2 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010699 MONDO:0018994 True Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease type X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010699 MONDO:0019236 True Charcot-Marie-Tooth disease X-linked recessive 5 inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010702 MONDO:0002254 True orofaciodigital syndrome I syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010706 MONDO:0019852 True premature ovarian failure 1 inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010711 MONDO:0003847 True TARP syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010712 MONDO:0019591 True panhypopituitarism, X-linked panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010713 MONDO:0003778 True properdin deficiency, X-linked inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010714 MONDO:0019046 True Pelizeaus-Merzbacher spectrum disorder leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010717 MONDO:0019169 True pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010718 MONDO:0018234 True absent radius-anogenital anomalies syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010718 MONDO:0019054 True absent radius-anogenital anomalies syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010720 MONDO:0019154 True partial androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010723 MONDO:0019200 True retinitis pigmentosa 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010725 MONDO:0000425 True X-linked retinoschisis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010725 MONDO:0004579 True X-linked retinoschisis retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010726 MONDO:0000594 True Rett syndrome pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010731 MONDO:0019716 True Simpson-Golabi-Behmel syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010732 MONDO:0003847 True spastic paraparesis-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010733 MONDO:0019046 True hereditary spastic paraplegia 2 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010733 MONDO:0019064 True hereditary spastic paraplegia 2 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010735 MONDO:0024237 True Kennedy disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010736 MONDO:0016576 True split hand-foot malformation 2 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010737 MONDO:0000425 True spondyloepiphyseal dysplasia tarda, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010737 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010738 MONDO:0016763 True spondylometaphyseal dysplasia, Golden type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010741 MONDO:0005486 True tooth agenesis, selective, X-linked, 1 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010742 MONDO:0015161 True pentalogy of Cantrell multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010743 MONDO:0100241 True thrombocytopenia 1 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010745 MONDO:0017145 True beta-thalassemia-X-linked thrombocytopenia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010747 MONDO:0000477 True X-linked dystonia-parkinsonism focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010747 MONDO:0020065 True X-linked dystonia-parkinsonism combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010750 MONDO:0018234 True ulnar hypoplasia-split foot syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010750 MONDO:0019054 True ulnar hypoplasia-split foot syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010752 MONDO:0008642 True VACTERL association, X-linked, with or without hydrocephalus VACTERL/vater association UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010753 MONDO:0003847 True cardiac valvular dysplasia, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010758 MONDO:0025445 True Wieacker-Wolff syndrome Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010761 MONDO:0000428 True retinitis pigmentosa Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010763 MONDO:0010595 True spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010768 MONDO:0002478 True gonadoblastoma mixed germ cell-sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010771 MONDO:0004069 True histiocytoid cardiomyopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010771 MONDO:0016333 True histiocytoid cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010772 MONDO:0020478 True Leber optic atrophy and dystonia Leber plus disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010775 MONDO:0019501 True retinitis pigmentosa-deafness syndrome Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010779 MONDO:0016387 True mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010782 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010785 MONDO:0015967 True maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010785 MONDO:0016387 True maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010786 MONDO:0016387 True chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0005181 True Kearns-Sayre syndrome progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010787 MONDO:0016333 True Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0016387 True Kearns-Sayre syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0020127 True Kearns-Sayre syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0016387 True Leber hereditary optic neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0020249 True Leber hereditary optic neuropathy hereditary optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010789 MONDO:0004675 True MELAS syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010790 MONDO:0004675 True MERRF syndrome mitochondrial encephalomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010790 MONDO:0016333 True MERRF syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010790 MONDO:0020127 True MERRF syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0016387 True NARP syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0020127 True NARP syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010795 MONDO:0024276 True oncocytic neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010800 MONDO:0018105 True Wolfram syndrome, mitochondrial form Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010801 MONDO:0019694 True spondylocamptodactyly syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010802 MONDO:0002254 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010802 MONDO:0003847 True pancreatic hypoplasia-diabetes-congenital heart disease syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010803 MONDO:0018230 True Eiken syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010805 MONDO:0017919 True bladder exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010806 MONDO:0019200 True retinitis pigmentosa 13 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010807 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 2 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010808 MONDO:0005429 True fatal familial insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010808 MONDO:0024237 True fatal familial insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010809 MONDO:0011996 True familial chronic myelocytic leukemia-like syndrome chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010811 MONDO:0003105 True benign prostatic hyperplasia prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010814 MONDO:0002254 True chondrodysplasia-pseudohermaphroditism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010814 MONDO:0020040 True chondrodysplasia-pseudohermaphroditism syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010815 MONDO:0019667 True spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010816 MONDO:0002254 True Qazi Markouizos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010817 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010818 MONDO:0019200 True retinitis pigmentosa 12 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010820 MONDO:0017279 True autosomal recessive juvenile Parkinson disease 2 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010821 MONDO:0016226 True familial developmental dysphasia specific language disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010822 MONDO:0016649 True Warburg micro syndrome 1 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010823 MONDO:0015776 True rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010824 MONDO:0020040 True disorder of sex development-intellectual disability syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010825 MONDO:0015161 True atrioventricular defect-blepharophimosis-radial and anal defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0000414 True childhood absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010826 MONDO:0015653 True childhood absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0020072 True childhood absence epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0850093 True childhood absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010827 MONDO:0019200 True retinitis pigmentosa 14 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010828 MONDO:0019200 True retinitis pigmentosa 11 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010831 MONDO:0018639 True familial caudal dysgenesis caudal regression-sirenomelia spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010832 MONDO:0015229 True Bardet-Biedl syndrome 3 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010835 MONDO:0015159 True pterygium colli-intellectual disability-digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010836 MONDO:0005514 True nanophthalmos 1 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010837 MONDO:0001741 True primary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010839 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 8 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010842 MONDO:0000426 True multiple cutaneous and mucosal venous malformations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010842 MONDO:0005385 True multiple cutaneous and mucosal venous malformations vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010844 MONDO:0015627 True epiphyseal dysplasia, multiple, 2 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010846 MONDO:0005508 True exostoses, multiple, type III hereditary multiple osteochondromas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010847 MONDO:0019792 True spinocerebellar ataxia type 4 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010848 MONDO:0019793 True spinocerebellar ataxia type 5 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010849 MONDO:0017666 True palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010851 MONDO:0015159 True Lowry-MacLean syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010851 MONDO:0015338 True Lowry-MacLean syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010854 MONDO:0019287 True Toriello-Lacassie-Droste syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010855 MONDO:0015161 True short tarsus-absence of lower eyelashes syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010856 MONDO:0016894 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010856 MONDO:0019741 True autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010858 MONDO:0015159 True macrocephaly-spastic paraplegia-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010858 MONDO:0019064 True macrocephaly-spastic paraplegia-dysmorphism syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010860 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 3 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010865 MONDO:0015159 True pseudoaminopterin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010866 MONDO:0017198 True infantile osteopetrosis with neuroaxonal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010867 MONDO:0015161 True PARC syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010870 MONDO:0016108 True tibial muscular dystrophy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010877 MONDO:0020127 True Charcot-Marie-Tooth disease type 5 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010878 MONDO:0019064 True hereditary spastic paraplegia 6 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010879 MONDO:0002254 True CODAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010879 MONDO:0015161 True CODAS syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010880 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 2 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010881 MONDO:0016907 True mesomelia-synostoses syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010881 MONDO:0018230 True mesomelia-synostoses syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010882 MONDO:0018234 True aphalangy-syndactyly-microcephaly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010882 MONDO:0019054 True aphalangy-syndactyly-microcephaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010883 MONDO:0015161 True pectus excavatum-macrocephaly-dysplastic nails syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0016901 True 2q37 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0019054 True 2q37 microdeletion syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010887 MONDO:0019280 True isolated anterior cervical hypertrichosis hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010890 MONDO:0015159 True acrocardiofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010893 MONDO:0800188 True malignant hyperthermia, susceptibility to, 4 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010895 MONDO:0006025 True ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010896 MONDO:0005328 True pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010897 MONDO:0005090 True schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010898 MONDO:0005115 True autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010899 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 1 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010899 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010907 MONDO:0017350 True familial hypertryptophanemia inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010908 MONDO:0004907 True loose anagen syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010909 MONDO:0015797 True UV-sensitive syndrome 1 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010912 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010914 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, severe infantile form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010915 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010916 MONDO:0004691 True polycystic kidney disease 3 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010920 MONDO:0019755 True microtia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010922 MONDO:0004907 True Satoyoshi syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010922 MONDO:0019852 True Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010924 MONDO:0016001 True D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010925 MONDO:0015161 True velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010930 MONDO:0015161 True anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010933 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010936 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010938 MONDO:0031520 True T-B+ severe combined immunodeficiency due to JAK3 deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010938 MONDO:0044200 True T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010939 MONDO:0700225 True low phospholipid associated cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010945 MONDO:0019200 True retinitis pigmentosa 17 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010946 MONDO:0024573 True hypertrophic cardiomyopathy 6 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010949 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010951 MONDO:0016333 True dilated cardiomyopathy 1B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010952 MONDO:0003847 True hereditary hyperferritinemia with congenital cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010953 MONDO:0019391 True Fanconi anemia complementation group E Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010958 MONDO:0019171 True cardiac arrhythmia, ankyrin-B-related familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010959 MONDO:0015161 True van den Ende-Gupta syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010959 MONDO:0015168 True van den Ende-Gupta syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010961 MONDO:0015770 True obesity due to prohormone convertase I deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010961 MONDO:0019182 True obesity due to prohormone convertase I deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010962 MONDO:0017666 True diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010963 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 6 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010964 MONDO:0015627 True epiphyseal dysplasia, multiple, 3 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010965 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 6 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010966 MONDO:0019648 True achondrogenesis type IB achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010967 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 7 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010969 MONDO:0015993 True cone-rod dystrophy 5 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010970 MONDO:0003847 True cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010973 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 5 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010976 MONDO:0017610 True epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010977 MONDO:0016199 True Brody myopathy qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010979 MONDO:0000426 True Timothy syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010979 MONDO:0019171 True Timothy syndrome familial long QT syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0015161 True absent tibia-polydactyly-arachnoid cyst syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0018234 True absent tibia-polydactyly-arachnoid cyst syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010981 MONDO:0019054 True absent tibia-polydactyly-arachnoid cyst syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010983 MONDO:0016058 True dystonia 9 paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010984 MONDO:0010168 True Usher syndrome type 1D Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010985 MONDO:0000160 True epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010986 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 9 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010986 MONDO:0021944 True autosomal recessive nonsyndromic hearing loss 9 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010987 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 8 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010989 MONDO:0017771 True Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Kuster-Hauser syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010992 MONDO:0002254 True Ayme-Gripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010992 MONDO:0003847 True Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010993 MONDO:0015159 True Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010995 MONDO:0019011 True Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010996 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010997 MONDO:0019037 True supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0010998 MONDO:0017740 True ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010999 MONDO:0015159 True fallot complex-intellectual disability-growth delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011001 MONDO:0015263 True Brugada syndrome 1 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011002 MONDO:0015626 True neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011003 MONDO:0016333 True dilated cardiomyopathy 1E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011004 MONDO:0015148 True lissencephaly type 3-metacarpal bone dysplasia syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011007 MONDO:0015161 True diaphragmatic defect-limb deficiency-skull defect syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011008 MONDO:0015161 True cleft lip/palate-intestinal malrotation-cardiopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0015161 True Matthew-Wood syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0015929 True Matthew-Wood syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011010 MONDO:0016073 True Matthew-Wood syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011011 MONDO:0019054 True skeletal dysplasia-epilepsy-short stature syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011012 MONDO:0006507 True African iron overload hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011013 MONDO:0018543 True autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011014 MONDO:0005933 True pleuropulmonary blastoma pulmonary blastoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011014 MONDO:0006517 True pleuropulmonary blastoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011017 MONDO:0016587 True Naxos disease arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011019 MONDO:0004907 True alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011021 MONDO:0000858 True neuronal intestinal dysplasia, type B neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011022 MONDO:0002254 True Potocki-Shaffer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011022 MONDO:0016893 True Potocki-Shaffer syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011023 MONDO:0004335 True hereditary mixed polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011023 MONDO:0015185 True hereditary mixed polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011025 MONDO:0020043 True Cayman type cerebellar ataxia autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011026 MONDO:0017265 True autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011028 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011028 MONDO:0016144 True autosomal recessive limb-girdle muscular dystrophy type 2F qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011028 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011031 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 10 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011032 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 11 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011035 MONDO:0019755 True neurofibromatosis-Noonan syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011035 MONDO:0021060 True neurofibromatosis-Noonan syndrome RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011038 MONDO:0019792 True cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011041 MONDO:0019287 True ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011045 MONDO:0015159 True MMEP syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011045 MONDO:0016073 True MMEP syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011048 MONDO:0015159 True epilepsy-microcephaly-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011049 MONDO:0015159 True Fine-Lubinsky syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011050 MONDO:0015161 True microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011051 MONDO:0016357 True lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011053 MONDO:0015159 True intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0018234 True autosomal recessive amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0019054 True autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011055 MONDO:0016892 True distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011056 MONDO:0003321 True Wilms tumor 4 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011058 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 9 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011059 MONDO:0015338 True holoprosencephaly-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011062 MONDO:0020022 True aprosencephaly cerebellar dysgenesis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011063 MONDO:0019287 True hidrotic ectodermal dysplasia, Christianson-Fourie type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011066 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011067 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 12 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011070 MONDO:0017813 True van Maldergem syndrome 1 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011071 MONDO:0015356 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011071 MONDO:0021181 True hereditary thrombocytopenia and hematologic cancer predisposition syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011074 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 7 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011075 MONDO:0019200 True retinitis pigmentosa 18 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011076 MONDO:0016187 True myofibrillar myopathy 1 qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0016333 True myofibrillar myopathy 1 familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0018943 True myofibrillar myopathy 1 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011076 MONDO:0019056 True myofibrillar myopathy 1 neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011079 MONDO:0018230 True rhizomelic dysplasia, Patterson-Lowry type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011081 MONDO:0015161 True dislocation of the hip-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011082 MONDO:0016643 True oculoauriculofrontonasal syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011083 MONDO:0019287 True trichodental syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011085 MONDO:0018995 True Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011086 MONDO:0017855 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011086 MONDO:0031520 True severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011087 MONDO:0005265 True inflammatory bowel disease 2 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011091 MONDO:0018993 True Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011093 MONDO:0019249 True mucopolysaccharidosis type 9 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011094 MONDO:0018901 True dilated cardiomyopathy 1C left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011094 MONDO:0024573 True dilated cardiomyopathy 1C familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011095 MONDO:0018901 True dilated cardiomyopathy 1D left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011096 MONDO:0016462 True autosomal agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011097 MONDO:0019187 True Axenfeld-Rieger syndrome type 2 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011099 MONDO:0006025 True human HOXA1 syndromes autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011102 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 12 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011103 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3A autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011104 MONDO:0005129 True cataract 3 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011107 MONDO:0003037 True congenital hypotrichosis with juvenile macular dystrophy hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011107 MONDO:0019287 True congenital hypotrichosis with juvenile macular dystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011109 MONDO:0016648 True multiple epiphyseal dysplasia, Lowry type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011112 MONDO:0003321 True Wilms tumor 5 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011113 MONDO:0018995 True Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011114 MONDO:0011512 True familial multiple trichoepithelioma Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011118 MONDO:0019460 True bilineal acute myeloid leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011119 MONDO:0019503 True iridogoniodysgenesis anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011121 MONDO:0000448 True paragangliomas 2 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011122 MONDO:0003916 True obesity disorder overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011125 MONDO:0002470 True trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011128 MONDO:0019942 True Sheldon-hall syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011132 MONDO:0015974 True T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011133 MONDO:0019290 True deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011134 MONDO:0015338 True Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011136 MONDO:0020117 True Quebec platelet disorder alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011137 MONDO:0019200 True retinitis pigmentosa 19 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011142 MONDO:0015286 True Ehlers-Danlos syndrome, musculocontractural type congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0015327 True Ehlers-Danlos syndrome, musculocontractural type developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0019942 True Ehlers-Danlos syndrome, musculocontractural type distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011142 MONDO:0020066 True Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011143 MONDO:0015993 True cone-rod dystrophy 6 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011145 MONDO:0015159 True colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0016933 True tetrasomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0019716 True tetrasomy 12p overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011147 MONDO:0016880 True chromosome 18q deletion syndrome partial deletion of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011150 MONDO:0019303 True acroosteolysis-keloid-like lesions-premature aging syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011154 MONDO:0018237 True acrofacial dysostosis, Palagonia type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011156 MONDO:0015762 True progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011157 MONDO:0020022 True Gomez-Lopez-Hernandez syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011159 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 13 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011160 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 15 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011163 MONDO:0800188 True malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011164 MONDO:0800188 True malignant hyperthermia, susceptibility to, 6 malignant hyperthermia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011165 MONDO:0007671 True glomerulopathy with fibronectin deposits 2 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011166 MONDO:0019175 True lymphedema-atrial septal defects-facial changes syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011169 MONDO:0019268 True keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011170 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011170 MONDO:0016192 True autosomal recessive limb-girdle muscular dystrophy type 2G qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011171 MONDO:0019287 True odonto-tricho-ungual-digito-palmar syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011173 MONDO:0019111 True thrombocythemia 2 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011175 MONDO:0100339 True Friedreich ataxia 2 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011177 MONDO:0019071 True ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011178 MONDO:0015427 True infantile convulsions and choreoathetosis paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011178 MONDO:0015642 True infantile convulsions and choreoathetosis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011181 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 2 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011183 MONDO:0005382 True Paget disease of bone 2, early-onset bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011184 MONDO:0003847 True childhood apraxia of speech hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011184 MONDO:0016226 True childhood apraxia of speech specific language disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011185 MONDO:0000764 True Thiel-Behnke corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011185 MONDO:0020212 True Thiel-Behnke corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011186 MONDO:0010168 True Usher syndrome type 1F Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011188 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 3 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011189 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 4 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011190 MONDO:0019005 True nephronophthisis 2 nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011192 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011193 MONDO:0015993 True cone dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011195 MONDO:0010168 True Usher syndrome type 1E Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011198 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011200 MONDO:0000477 True torsion dystonia 7 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011200 MONDO:0044807 True torsion dystonia 7 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011201 MONDO:0003233 True tremor, hereditary essential, 2 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011208 MONDO:0019293 True malignant atrophic papulosis skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011211 MONDO:0016763 True axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011213 MONDO:0003847 True Pierpont syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011213 MONDO:0015159 True Pierpont syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011214 MONDO:0015762 True progressive familial intrahepatic cholestasis type 3 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011216 MONDO:0019257 True hemochromatosis type 2A hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011217 MONDO:0019702 True desmosterolosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011218 MONDO:0017265 True autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011219 MONDO:0019287 True Fried's tooth and nail syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011223 MONDO:0005144 True amyotrophic lateral sclerosis type 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011224 MONDO:0020129 True monomelic amyotrophy acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011225 MONDO:0017855 True severe combined immunodeficiency due to DCLRE1C deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011225 MONDO:0031520 True severe combined immunodeficiency due to DCLRE1C deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011226 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 15 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011227 MONDO:0015161 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011227 MONDO:0018751 True short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011231 MONDO:0000032 True febrile seizures, familial, 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011232 MONDO:0000700 True migraine, familial hemiplegic, 2 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011233 MONDO:0019187 True Axenfeld-Rieger syndrome type 3 Axenfeld-Rieger syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011234 MONDO:0000107 True auriculocondylar syndrome 1 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011235 MONDO:0018234 True pelvic dysplasia-arthrogryposis of lower limbs syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011236 MONDO:0015624 True hyperinsulinism due to glucokinase deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011236 MONDO:0017688 True hyperinsulinism due to glucokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011243 MONDO:0015161 True grange syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0002254 True Marshall-Smith syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011244 MONDO:0018230 True Marshall-Smith syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011244 MONDO:0019716 True Marshall-Smith syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011246 MONDO:0018117 True megaconial type congenital muscular dystrophy disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011246 MONDO:0019950 True megaconial type congenital muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011248 MONDO:0016911 True distal monosomy 13q partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011253 MONDO:0015338 True craniomicromelic syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011255 MONDO:0015483 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011255 MONDO:0018234 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011257 MONDO:0017740 True MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011262 MONDO:0015161 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011262 MONDO:0018234 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011264 MONDO:0000476 True torsion dystonia 6 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011265 MONDO:0005486 True tooth agenesis, selective, 2 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011266 MONDO:0016107 True myotonic dystrophy type 2 myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011269 MONDO:0005083 True psoriasis 2 psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011272 MONDO:0019200 True retinitis pigmentosa 25 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011273 MONDO:0019289 True H syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011274 MONDO:0015338 True Muenke syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011275 MONDO:0019696 True acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011276 MONDO:0000358 True orofacial cleft 2 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011279 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 17 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011281 MONDO:0018940 True congenital myasthenic syndrome 5 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011283 MONDO:0018158 True mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011284 MONDO:0004892 True astigmatism refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011285 MONDO:0005150 True age related macular degeneration 1 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 13 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011287 MONDO:0015338 True craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011291 MONDO:0017740 True ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011292 MONDO:0004980 True dermatitis, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011294 MONDO:0005090 True schizophrenia 5 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011295 MONDO:0005090 True schizophrenia 7 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011297 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 2 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011297 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011298 MONDO:0005090 True schizophrenia 8 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011299 MONDO:0005429 True Huntington disease-like 1 prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011299 MONDO:0024237 True Huntington disease-like 1 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011300 MONDO:0001384 True myopia 3, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011301 MONDO:0019992 True pseudohypoparathyroidism type 1B pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011303 MONDO:0005363 True focal segmental glomerulosclerosis 1 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011304 MONDO:0031037 True cerebral cavernous malformation 2 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011305 MONDO:0031037 True cerebral cavernous malformation 3 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011307 MONDO:0005090 True schizophrenia 2 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011308 MONDO:0003847 True GRACILE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011309 MONDO:0003847 True familial gestational hyperthyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011309 MONDO:0004425 True familial gestational hyperthyroidism hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011313 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011325 MONDO:0019391 True Fanconi anemia complementation group F Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011327 MONDO:0024237 True neuronal intranuclear inclusion disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011330 MONDO:0019794 True spinocerebellar ataxia type 10 autosomal dominant cerebellar ataxia type IV UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011331 MONDO:0002037 True congenital chylothorax pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011331 MONDO:0017015 True congenital chylothorax primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011334 MONDO:0019287 True limb-mammary syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011335 MONDO:0000426 True spondyloepimetaphyseal dysplasia with multiple dislocations autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011335 MONDO:0019675 True spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011336 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 4 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011337 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011338 MONDO:0031520 True Omenn syndrome familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011342 MONDO:0005501 True SLC35A1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011342 MONDO:0017749 True SLC35A1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011346 MONDO:0018106 True xanthinuria type II hereditary xanthinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011350 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 17 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011351 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 21 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011355 MONDO:0015993 True cone-rod dystrophy 7 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011359 MONDO:0016643 True acromelic frontonasal dysostosis frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011359 MONDO:0018237 True acromelic frontonasal dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011360 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 14 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011362 MONDO:0016106 True myopathy, myofibrillar, 9, with early respiratory failure progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011362 MONDO:0016112 True myopathy, myofibrillar, 9, with early respiratory failure hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011364 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 16 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011365 MONDO:0000734 True blepharophimosis - intellectual disability syndrome, SBBYS type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011365 MONDO:0002254 True blepharophimosis - intellectual disability syndrome, SBBYS type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011366 MONDO:0005040 True ovarian germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011366 MONDO:0021068 True ovarian germ cell tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011369 MONDO:0005439 True hypercholesterolemia, autosomal dominant, 3 familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011374 MONDO:0019052 True hypercholesterolemia, familial, 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011377 MONDO:0019171 True long QT syndrome 3 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011381 MONDO:0019402 True dominant beta-thalassemia beta thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011382 MONDO:0006025 True sickle cell anemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011382 MONDO:0019050 True sickle cell anemia inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011383 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011386 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 1 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011389 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 16 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011390 MONDO:0005363 True focal segmental glomerulosclerosis 2 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011391 MONDO:0019046 True megalencephalic leukoencephalopathy with subcortical cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011392 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 20 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011393 MONDO:0019052 True hypoalphalipoproteinemia, primary, 1 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011395 MONDO:0015993 True cone-rod dystrophy 3 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011396 MONDO:0017666 True loricrin keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011397 MONDO:0019792 True autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011398 MONDO:0006543 True dystrophic epidermolysis bullosa pruriginosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011399 MONDO:0000984 True alpha thalassemia thalassemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011400 MONDO:0016333 True dilated cardiomyopathy 1G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0015159 True congenital cataracts-facial dysmorphism-neuropathy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0020046 True congenital cataracts-facial dysmorphism-neuropathy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011403 MONDO:0018901 True left ventricular noncompaction 1 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011405 MONDO:0015134 True poikiloderma with neutropenia constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011405 MONDO:0016382 True poikiloderma with neutropenia hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011408 MONDO:0019064 True hereditary spastic paraplegia 10 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011412 MONDO:0020074 True familial encephalopathy with neuroserpin inclusion bodies progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011413 MONDO:0005129 True cataract 9 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011414 MONDO:0000942 True Peters anomaly corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011414 MONDO:0019503 True Peters anomaly anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011415 MONDO:0018998 True Leber congenital amaurosis 3 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011416 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011417 MONDO:0006507 True hemochromatosis type 3 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011420 MONDO:0015892 True short stature due to partial GHR deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011421 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011422 MONDO:0008369 True autosomal recessive proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011422 MONDO:0015962 True autosomal recessive proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011423 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011423 MONDO:0016142 True autosomal recessive limb-girdle muscular dystrophy type 2E qualitative or quantitative defects of beta-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011423 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011424 MONDO:0015079 True Carney triad multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011425 MONDO:0016333 True dilated cardiomyopathy 1H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0016624 True aceruloplasminemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0017763 True aceruloplasminemia disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0018307 True aceruloplasminemia neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011426 MONDO:0019118 True aceruloplasminemia inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011428 MONDO:0010004 True ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011429 MONDO:0005578 True juvenile idiopathic arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011430 MONDO:0011060 True pulverulent cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011432 MONDO:0017393 True blepharophimosis - intellectual disability syndrome, Verloes type blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011435 MONDO:0016660 True microcephaly 2, primary, autosomal recessive, with or without cortical malformations autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011436 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 1 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011436 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 1 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011437 MONDO:0016660 True microcephaly 4, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011438 MONDO:0006607 True acne sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011439 MONDO:0019792 True spinocerebellar ataxia type 12 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011441 MONDO:0019369 True complex regional pain syndrome type 1 complex regional pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011442 MONDO:0015609 True advanced sleep phase syndrome 1 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011443 MONDO:0000032 True febrile seizures, familial, 4 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011444 MONDO:0007473 True Duane retraction syndrome 2 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011448 MONDO:0020088 True PPARG-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011449 MONDO:0019366 True Salla disease free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011450 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011451 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011452 MONDO:0003037 True hypotrichosis 7 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011454 MONDO:0016432 True patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011456 MONDO:0019005 True nephronophthisis 3 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011458 MONDO:0018998 True Leber congenital amaurosis 4 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011459 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 5 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011460 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 6 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011461 MONDO:0000032 True generalized epilepsy with febrile seizures plus, type 2 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011461 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011462 MONDO:0019751 True pyogenic arthritis-pyoderma gangrenosum-acne syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011464 MONDO:0019793 True spinocerebellar ataxia type 11 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011465 MONDO:0005341 True infundibulocystic basal cell carcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011466 MONDO:0016108 True distal myopathy, Welander type autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011468 MONDO:0020127 True hereditary motor and sensory neuropathy, Okinawa type hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011471 MONDO:0005265 True inflammatory bowel disease 3 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011472 MONDO:0019287 True epidermolysis bullosa simplex due to plakophilin deficiency ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011473 MONDO:0018998 True Leber congenital amaurosis 5 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011474 MONDO:0019490 True progressive familial heart block type IB progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011475 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011476 MONDO:0015131 True MHC class I deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011477 MONDO:0005486 True tooth agenesis, selective, 3 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011479 MONDO:0000992 True postural orthostatic tachycardia syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011480 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 20 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011481 MONDO:0015338 True craniosynostosis 2 syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011482 MONDO:0016333 True dilated cardiomyopathy 1I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011484 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011485 MONDO:0017265 True autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011486 MONDO:0019950 True congenital muscular dystrophy 1B congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011487 MONDO:0015548 True Huntington disease-like 3 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011489 MONDO:0015149 True hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011496 MONDO:0022800 True mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011497 MONDO:0015762 True hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011500 MONDO:0019755 True Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011502 MONDO:0003847 True Wolfram syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011502 MONDO:0018105 True Wolfram syndrome 2 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011503 MONDO:0000193 True cortisone reductase deficiency 1 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011505 MONDO:0017774 True familial hypobetalipoproteinemia 2 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011510 MONDO:0015159 True Bohring-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011512 MONDO:0000426 True Brooke-Spiegler syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011514 MONDO:0020289 True tricuspid atresia congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011518 MONDO:0015159 True Wiedemann-Steiner syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011524 MONDO:0016537 True Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011527 MONDO:0018995 True Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011527 MONDO:0033352 True Charcot-Marie-Tooth disease type 4E neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011528 MONDO:0006025 True hyper-IgM syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011529 MONDO:0019792 True spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011530 MONDO:0018230 True mesomelic dysplasia, Savarirayan type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011531 MONDO:0018997 True Noonan syndrome 2 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011532 MONDO:0019064 True hereditary spastic paraplegia 13 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011533 MONDO:0002254 True temtamy preaxial brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011533 MONDO:0006025 True temtamy preaxial brachydactyly syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011533 MONDO:0015286 True temtamy preaxial brachydactyly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011533 MONDO:0015327 True temtamy preaxial brachydactyly syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011533 MONDO:0019054 True temtamy preaxial brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011534 MONDO:0018995 True Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011535 MONDO:0016576 True split hand-foot malformation 4 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011536 MONDO:0043878 True optic atrophy 4 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011537 MONDO:0000426 True macrocephaly-autism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011539 MONDO:0018958 True nemaline myopathy 5 nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011540 MONDO:0019792 True spinocerebellar ataxia type 14 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011541 MONDO:0016333 True dilated cardiomyopathy 1J familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011544 MONDO:0000448 True paragangliomas 3 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011545 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 3 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011545 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011546 MONDO:0018677 True heterotaxy, visceral, 2, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011549 MONDO:0003037 True hypotrichosis 1 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011551 MONDO:0016812 True TH-deficient dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011551 MONDO:0017307 True TH-deficient dopa-responsive dystonia disorder of tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011552 MONDO:0005090 True schizophrenia 10 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011553 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 26 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011555 MONDO:0018234 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0018795 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011555 MONDO:0019054 True radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011558 MONDO:0016484 True Usher syndrome type 2C Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011559 MONDO:0019008 True benign recurrent intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011562 MONDO:0008199 True autosomal dominant Parkinson disease 4 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011563 MONDO:0016070 True fibromatosis, gingival, 2 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011564 MONDO:0015993 True cone-rod dystrophy 8 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011565 MONDO:0000816 True metabolic syndrome X abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011566 MONDO:0000816 True abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011567 MONDO:0016333 True dilated cardiomyopathy 1K familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011568 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 25 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011569 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011569 MONDO:0021106 True Charcot-Marie-Tooth disease type 2B1 laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011570 MONDO:0018993 True Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011575 MONDO:0015159 True cerebrooculonasal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011576 MONDO:0016525 True familial hyperaldosteronism type II familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011577 MONDO:0019952 True myopathy, proximal, and ophthalmoplegia congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011578 MONDO:0017896 True familial papillary thyroid carcinoma with renal papillary neoplasia familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011579 MONDO:0019118 True late-onset retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011581 MONDO:0019287 True arrhythmogenic cardiomyopathy with wooly hair and keratoderma ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011582 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 1 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011583 MONDO:0005620 True cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011584 MONDO:0019391 True Fanconi anemia complementation group D1 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011585 MONDO:0001516 True autosomal recessive distal spinal muscular atrophy 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011585 MONDO:0015363 True autosomal recessive distal spinal muscular atrophy 2 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011586 MONDO:0005349 True otosclerosis 2 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011588 MONDO:0000009 True platelet-type bleeding disorder 12 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011589 MONDO:0000170 True microphthalmia with coloboma 2 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011599 MONDO:0006918 True birdshot chorioretinopathy posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011601 MONDO:0016602 True neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011603 MONDO:0016112 True GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0017749 True GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0018795 True GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011612 MONDO:0004736 True glycine encephalopathy inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011612 MONDO:0019239 True glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011613 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011614 MONDO:0017713 True 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011616 MONDO:0016296 True holoprosencephaly 6 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011620 MONDO:0018230 True metaphyseal dysplasia, Braun-Tinschert type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011621 MONDO:0019054 True acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011624 MONDO:0019231 True transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011627 MONDO:0020836 True autism, susceptibility to, 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011628 MONDO:0019215 True propionic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011629 MONDO:0017740 True MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011630 MONDO:0019200 True retinitis pigmentosa 28 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011631 MONDO:0006507 True hemochromatosis type 4 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011632 MONDO:0005144 True amyotrophic lateral sclerosis type 21 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011633 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011635 MONDO:0000334 True goiter, multinodular 3 multinodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011636 MONDO:0015253 True Diamond-Blackfan anemia 2 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011638 MONDO:0015548 True neuroferritinopathy Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011638 MONDO:0017763 True neuroferritinopathy disorder of iron metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011638 MONDO:0018307 True neuroferritinopathy neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011639 MONDO:0015253 True Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011640 MONDO:0015159 True genitopatellar syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011640 MONDO:0018234 True genitopatellar syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011644 MONDO:0004674 True pars planitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011652 MONDO:0003847 True Phelan-McDermid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011652 MONDO:0022760 True Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011658 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 7 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011659 MONDO:0018677 True heterotaxy, visceral, 3, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011660 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 22 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011661 MONDO:0005265 True inflammatory bowel disease 5 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011662 MONDO:0001162 True pathological gambling impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011664 MONDO:0021094 True immunodeficiency due to CD25 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011667 MONDO:0018911 True maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011668 MONDO:0018911 True maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011669 MONDO:0002254 True hypotonia-cystinuria syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011669 MONDO:0016884 True hypotonia-cystinuria syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011669 MONDO:0019216 True hypotonia-cystinuria syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011670 MONDO:0020066 True Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011671 MONDO:0016987 True Huntington disease-like 2 neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011672 MONDO:0015757 True persistent polyclonal B-cell lymphocytosis lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011673 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 30 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011674 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011675 MONDO:0019548 True Charcot-Marie-Tooth Disease, axonal, type 2GG autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011676 MONDO:0020022 True PHACE syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011681 MONDO:0016227 True episodic ataxia type 4 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011682 MONDO:0016227 True episodic ataxia type 3 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011683 MONDO:0018910 True oculocutaneous albinism type 4 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011687 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011688 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011691 MONDO:0005144 True amyotrophic lateral sclerosis type 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011694 MONDO:0019792 True spinocerebellar ataxia type 15/16 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011698 MONDO:0000351 True glycine N-methyltransferase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011699 MONDO:0005265 True inflammatory bowel disease 8 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011700 MONDO:0005265 True inflammatory bowel disease 6 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011701 MONDO:0005265 True inflammatory bowel disease 4 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011702 MONDO:0016333 True dilated cardiomyopathy 1L familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011705 MONDO:0006359 True lymphangioleiomyomatosis neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011706 MONDO:0018307 True Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011711 MONDO:0000724 True specific language impairment 2 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011716 MONDO:0019383 True acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011717 MONDO:0015624 True hyperinsulinism-hyperammonemia syndrome diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011718 MONDO:0016575 True primary ciliary dyskinesia 2 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011719 MONDO:0018506 True gastrointestinal stromal tumor mesenchymal tumor of small intestine UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011721 MONDO:0016145 True distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011722 MONDO:0015159 True intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011725 MONDO:0009044 True Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011728 MONDO:0000477 True benign essential blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011730 MONDO:0016790 True fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011730 MONDO:0020127 True fumaric aciduria hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011731 MONDO:0019226 True glucose-galactose malabsorption glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011732 MONDO:0018240 True familial digital arthropathy-brachydactyly TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011732 MONDO:0019054 True familial digital arthropathy-brachydactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011738 MONDO:0003847 True bilateral frontoparietal polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011738 MONDO:0017091 True bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011740 MONDO:0015079 True Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011744 MONDO:0016223 True primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011748 MONDO:0010168 True Usher syndrome type 1G Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011755 MONDO:0017842 True senior-loken syndrome 3 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011756 MONDO:0017842 True Senior-Loken syndrome 4 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011757 MONDO:0021004 True brachydactyly type A1B brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011758 MONDO:0001586 True Hurler syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011758 MONDO:0016340 True Hurler syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011758 MONDO:0800088 True Hurler syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011759 MONDO:0001586 True Hurler-Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011759 MONDO:0800088 True Hurler-Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011760 MONDO:0001586 True Scheie syndrome mucopolysaccharidosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011760 MONDO:0800088 True Scheie syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011761 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 21 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011762 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 22 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011764 MONDO:0008199 True autosomal dominant Parkinson disease 8 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011765 MONDO:0016648 True multiple epiphyseal dysplasia type 5 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011766 MONDO:0020040 True 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011767 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 31 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011770 MONDO:0019625 True aortic aneurysm, familial thoracic 2 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011771 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011771 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 3 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011772 MONDO:0005501 True B4GALT1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011772 MONDO:0015327 True B4GALT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0017749 True B4GALT1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0020022 True B4GALT1-congenital disorder of glycosylation central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011774 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 30 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011776 MONDO:0016168 True CINCA syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011778 MONDO:0016648 True multiple epiphyseal dysplasia, Al-Gazali type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011780 MONDO:0000724 True specific language impairment 3 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011781 MONDO:0015548 True spinocerebellar ataxia type 17 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011781 MONDO:0019792 True spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011782 MONDO:0005283 True angioid streaks retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011783 MONDO:0005500 True ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011783 MONDO:0017740 True ALG12-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011784 MONDO:0016820 True Moyamoya disease 2 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011785 MONDO:0015149 True hereditary spastic paraplegia 19 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011786 MONDO:0000771 True allergic rhinitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011786 MONDO:0003014 True allergic rhinitis rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011787 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011787 MONDO:0016156 True autosomal recessive limb-girdle muscular dystrophy type 2I qualitative or quantitative defects of FKRP UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011788 MONDO:0015338 True cloverleaf skull-multiple congenital anomalies syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011789 MONDO:0016642 True familial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011790 MONDO:0000152 True Amish lethal microcephaly thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011792 MONDO:0010132 True thyroid dyshormonogenesis 6 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011795 MONDO:0015161 True anonychia-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011799 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 33 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011800 MONDO:0100242 True glioma susceptibility 4 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011801 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011801 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011803 MONDO:0016387 True hereditary spastic paraplegia 7 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011803 MONDO:0019064 True hereditary spastic paraplegia 7 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011803 MONDO:0100309 True hereditary spastic paraplegia 7 hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011804 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011806 MONDO:0018230 True osteofibrous dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011811 MONDO:0020047 True autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011812 MONDO:0000426 True Duane-radial ray syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011812 MONDO:0002254 True Duane-radial ray syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011812 MONDO:0018234 True Duane-radial ray syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011812 MONDO:0019054 True Duane-radial ray syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011814 MONDO:0015799 True Smith-McCort dysplasia 1 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011818 MONDO:0019009 True isolated focal cortical dysplasia type II isolated focal cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011819 MONDO:0019792 True spinocerebellar ataxia type 19/22 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011823 MONDO:0015161 True developmental malformations-deafness-dystonia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011823 MONDO:0044807 True developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011824 MONDO:0020836 True autism, susceptibility to, 8 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011827 MONDO:0005453 True patent ductus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011829 MONDO:0018151 True coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011830 MONDO:0015146 True lissencephaly due to LIS1 mutation classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011831 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 8 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011832 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 44 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011833 MONDO:0019792 True spinocerebellar ataxia type 21 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011834 MONDO:0019792 True spinocerebellar ataxia type 18 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011835 MONDO:0009637 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011835 MONDO:0016798 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia neuropathy spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011835 MONDO:0020127 True sensory ataxic neuropathy, dysarthria, and ophthalmoparesis hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011836 MONDO:0005034 True thyroid Hurthle cell carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011837 MONDO:0015722 True vitamin K-dependent clotting factors, combined deficiency of, type 2 congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011839 MONDO:0015993 True Newfoundland cone-rod dystrophy cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011840 MONDO:0016333 True dilated cardiomyopathy 1M familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011841 MONDO:0000152 True biotin-responsive basal ganglia disease thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011841 MONDO:0003996 True biotin-responsive basal ganglia disease basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011842 MONDO:0017276 True GRN-related frontotemporal lobar degeneration with Tdp43 inclusions frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011843 MONDO:0024573 True hypertrophic cardiomyopathy 25 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011844 MONDO:0000903 True myoclonic dystonia 15 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011845 MONDO:0100246 True migraine with or without aura, susceptibility to, 3 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011847 MONDO:0100246 True migraine without aura, susceptibility to, 4 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011850 MONDO:0100246 True migraine with or without aura, susceptibility to, 5 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011851 MONDO:0100246 True migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011852 MONDO:0019284 True nonsyndromic congenital nail disorder 8 inherited isolated nail anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011855 MONDO:0000764 True granular corneal dystrophy type II epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011855 MONDO:0020213 True granular corneal dystrophy type II stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011856 MONDO:0016763 True spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011857 MONDO:0018054 True atrial fibrillation, familial, 3 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011864 MONDO:0015517 True immunodeficiency, common variable, 1 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011866 MONDO:0016396 True pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011868 MONDO:0015161 True lethal congenital contracture syndrome 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011871 MONDO:0017014 True Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011871 MONDO:0020127 True Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015134 True Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015541 True Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011874 MONDO:0015947 True neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011874 MONDO:0018646 True neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011876 MONDO:0015653 True juvenile absence epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011877 MONDO:0020645 True autosomal dominant osteopetrosis 1 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011880 MONDO:0015279 True candidiasis, familial, 3 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011881 MONDO:0018865 True keratosis palmoplantaris striata 3 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011882 MONDO:0017666 True skin fragility-woolly hair-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011883 MONDO:0017666 True Curly hair - acral keratoderma - caries syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011883 MONDO:0019287 True Curly hair - acral keratoderma - caries syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011884 MONDO:0017672 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011884 MONDO:0019287 True hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011886 MONDO:0015990 True torsion dystonia 13 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011888 MONDO:0015979 True immunodeficiency 67 hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011888 MONDO:0021094 True immunodeficiency 67 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011889 MONDO:0018993 True Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011890 MONDO:0019011 True Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011891 MONDO:0010826 True febrile seizures, familial, 8 childhood absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011891 MONDO:0018214 True febrile seizures, familial, 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011894 MONDO:0018993 True Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011895 MONDO:0015691 True idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011899 MONDO:0020297 True Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011901 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011902 MONDO:0019011 True Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011903 MONDO:0018993 True Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011904 MONDO:0017615 True seizures, benign familial infantile, 3 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011906 MONDO:0018841 True congenital bile acid synthesis defect 1 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011907 MONDO:0005516 True acrocapitofemoral dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011907 MONDO:0019695 True acrocapitofemoral dysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011909 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate D autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011911 MONDO:0003847 True craniolenticulosutural dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011911 MONDO:0015161 True craniolenticulosutural dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011912 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 37 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011915 MONDO:0008004 True mitral valve prolapse, myxomatous 2 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011916 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011920 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 48 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011924 MONDO:0031240 True panic disorder 2 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011925 MONDO:0019950 True congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011927 MONDO:0003110 True tufted angioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011929 MONDO:0016883 True chromosome 1p36 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011930 MONDO:0000160 True epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011932 MONDO:0003037 True hypotrichosis 6 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011933 MONDO:0005500 True ALG2-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011933 MONDO:0017740 True ALG2-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011934 MONDO:0005164 True dermatofibrosarcoma protuberans fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011935 MONDO:0019200 True retinitis pigmentosa 30 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011936 MONDO:0016073 True microphthalmia with brain and digit anomalies syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011937 MONDO:0019347 True peeling skin syndrome 4 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011938 MONDO:0006664 True atrial septal defect 2 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011939 MONDO:0016763 True Spondyloenchondrodysplasia with immune dysregulation spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011945 MONDO:0018150 True Gaucher disease perinatal lethal Gaucher disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011946 MONDO:0019694 True diaphanospondylodysostosis spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011948 MONDO:0020135 True pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011950 MONDO:0015244 True infantile-onset autosomal recessive nonprogressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011951 MONDO:0005144 True amyotrophic lateral sclerosis type 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011956 MONDO:0020836 True autism, susceptibility to, 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011962 MONDO:0021251 True endometrial cancer endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011963 MONDO:0018772 True Joubert syndrome 2 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011964 MONDO:0005500 True DPAGT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011964 MONDO:0017740 True DPAGT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011965 MONDO:0005115 True familial temporal lobe epilepsy 2 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011966 MONDO:0020341 True periventricular heterotopia with microcephaly, autosomal recessive periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011967 MONDO:0020341 True heterotopia, periventricular, associated with chromosome 5P anomalies periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011968 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011968 MONDO:0016141 True autosomal recessive limb-girdle muscular dystrophy type 2D qualitative or quantitative defects of alpha-sarcoglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011968 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011969 MONDO:0005500 True ALG8-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011969 MONDO:0017740 True ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011970 MONDO:0020072 True rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011971 MONDO:0003947 True hyper-IgM syndrome type 5 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011972 MONDO:0005558 True ovarian hyperstimulation syndrome ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011974 MONDO:0019200 True retinitis pigmentosa 7 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011975 MONDO:0016779 True paternal uniparental disomy of chromosome 14 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011976 MONDO:0020087 True lipodystrophy-intellectual disability-deafness syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011977 MONDO:0015161 True 8q22.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011977 MONDO:0016907 True 8q22.1 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011985 MONDO:0003947 True hyper-IgM syndrome type 4 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011987 MONDO:0015993 True cone-rod dystrophy 13 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011988 MONDO:0015978 True neutrophil immunodeficiency syndrome functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011989 MONDO:0002428 True leishmaniasis protozoa infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011990 MONDO:0016027 True seizures, benign familial neonatal, 3 benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011991 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 38 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011992 MONDO:0015150 True hereditary spastic paraplegia 25 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011994 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 41 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011996 MONDO:0004643 True chronic myelogenous leukemia, BCR-ABL1 positive myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011997 MONDO:0015134 True Hermansky-Pudlak syndrome 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011997 MONDO:0015541 True Hermansky-Pudlak syndrome 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011997 MONDO:0019312 True Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011999 MONDO:0005349 True otosclerosis 3 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012000 MONDO:0003699 True specific phobia phobic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012002 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 40 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012003 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 39 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012004 MONDO:0004970 True parathyroid gland carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012004 MONDO:0021311 True parathyroid gland carcinoma malignant tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012008 MONDO:0019287 True Lelis syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012012 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012013 MONDO:0018096 True Weill-Marchesani syndrome 2, dominant Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012014 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012015 MONDO:0005712 True nystagmus 3, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012016 MONDO:0016231 True capillary malformation-arteriovenous malformation syndrome capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012019 MONDO:0016761 True spondyloepiphyseal dysplasia, Kimberley type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012020 MONDO:0016972 True chromosome 22q11.2 microduplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012021 MONDO:0001384 True myopia 17, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012032 MONDO:0015161 True Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012033 MONDO:0003847 True bradyopsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012033 MONDO:0005283 True bradyopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012034 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012035 MONDO:0015338 True craniosynostosis-intracranial calcifications syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012037 MONDO:0019502 True intellectual disability, autosomal recessive 3 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012040 MONDO:0005265 True inflammatory bowel disease 9 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012041 MONDO:0006025 True familial adenomatous polyposis 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012041 MONDO:0016362 True familial adenomatous polyposis 2 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012041 MONDO:0021055 True familial adenomatous polyposis 2 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012043 MONDO:0000764 True Reis-Bucklers corneal dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012043 MONDO:0020212 True Reis-Bucklers corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012045 MONDO:0001384 True myopia 5, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012048 MONDO:0002009 True endogenous depression major depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012049 MONDO:0015375 True orofaciodigital syndrome VII orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012052 MONDO:0005500 True ALG1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012052 MONDO:0017740 True ALG1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012053 MONDO:0016483 True aneurysm, intracranial berry, 2 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012054 MONDO:0005090 True schizophrenia 12 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012055 MONDO:0018230 True Larsen-like osseous dysplasia-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012056 MONDO:0018998 True Leber congenital amaurosis 9 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012060 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 35 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012062 MONDO:0016333 True dilated cardiomyopathy 1O familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012063 MONDO:0019054 True ulnar/fibula ray defect-brachydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012064 MONDO:0015161 True choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012066 MONDO:0018054 True atrial fibrillation, familial, 1 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012069 MONDO:0015486 True keratoconus 3 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012071 MONDO:0006536 True congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012072 MONDO:0020088 True familial partial lipodystrophy, Kobberling type familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012073 MONDO:0019046 True ribose-5-P isomerase deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012073 MONDO:0019231 True ribose-5-P isomerase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012074 MONDO:0016584 True mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012077 MONDO:0005144 True amyotrophic lateral sclerosis type 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012078 MONDO:0018772 True Joubert syndrome 3 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012079 MONDO:0100440 True asperger syndrome, susceptibility to, 2 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012081 MONDO:0016965 True 15q11q13 microduplication syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012082 MONDO:0100440 True asperger syndrome, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012083 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 28 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012084 MONDO:0017759 True aromatic L-amino acid decarboxylase deficiency disorder of catecholamine synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012085 MONDO:0016575 True primary ciliary dyskinesia 3 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012086 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 31 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012087 MONDO:0016575 True primary ciliary dyskinesia 4 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012088 MONDO:0016575 True primary ciliary dyskinesia 5 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012095 MONDO:0015159 True intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0018234 True intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0019054 True intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012096 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012098 MONDO:0019792 True spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012099 MONDO:0019236 True AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012103 MONDO:0019792 True spinocerebellar ataxia type 25 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012104 MONDO:0020089 True acquired partial lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012105 MONDO:0005046 True granulomatosis with polyangiitis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012105 MONDO:0015492 True granulomatosis with polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012106 MONDO:0016660 True microcephaly 5, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012110 MONDO:0015892 True growth delay due to insulin-like growth factor type 1 deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012111 MONDO:0024573 True hypertrophic cardiomyopathy 8 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012112 MONDO:0024573 True hypertrophic cardiomyopathy 10 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012116 MONDO:0019792 True spinocerebellar ataxia type 8 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012117 MONDO:0005500 True ALG9-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012117 MONDO:0017740 True ALG9-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0005501 True COG7-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0015327 True COG7-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012118 MONDO:0017750 True COG7-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012119 MONDO:0100440 True asperger syndrome, susceptibility to, 3 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012120 MONDO:0019169 True pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012121 MONDO:0005349 True otosclerosis 5 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012122 MONDO:0016820 True moyamoya disease 3 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012123 MONDO:0005500 True congenital disorder of glycosylation type 1E congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012123 MONDO:0017749 True congenital disorder of glycosylation type 1E disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012124 MONDO:0020040 True sudden infant death-dysgenesis of the testes syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012125 MONDO:0017226 True hypomyelinating leukodystrophy 2 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012126 MONDO:0018379 True familial avascular necrosis of femoral head primary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012126 MONDO:0018383 True familial avascular necrosis of femoral head osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012127 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012130 MONDO:0016108 True myofibrillar myopathy 2 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012135 MONDO:0100170 True restless legs syndrome, susceptibility to, 2 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012136 MONDO:0015515 True carnitine palmitoyl transferase II deficiency, neonatal form carnitine palmitoyltransferase II deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012137 MONDO:0016432 True Carney complex - trismus - pseudocamptodactyly syndrome heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012138 MONDO:0000172 True muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012139 MONDO:0031166 True macular dystrophy, retinal, 3 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012143 MONDO:0020102 True hereditary cryohydrocytosis with reduced stomatin hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012145 MONDO:0005150 True macular degeneration, age-related, 3 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012146 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 3 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012154 MONDO:0001384 True myopia 6 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012155 MONDO:0002232 True choanal atresia nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012158 MONDO:0015486 True keratoconus 2 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012160 MONDO:0016763 True spondylometaphyseal dysplasia-cone-rod dystrophy syndrome spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012162 MONDO:0020381 True patterned macular dystrophy 2 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012163 MONDO:0031520 True immunodeficiency 104 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012164 MONDO:0020040 True Meacham syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0015161 True BNAR syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0018751 True BNAR syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012166 MONDO:0100309 True autosomal dominant sensory ataxia 1 hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012167 MONDO:0018054 True atrial fibrillation, familial, 2 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012169 MONDO:0019852 True premature ovarian failure 3 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012170 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 36 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012172 MONDO:0002525 True mitochondrial trifunctional protein deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012172 MONDO:0009637 True mitochondrial trifunctional protein deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012173 MONDO:0017713 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012173 MONDO:0020127 True long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012175 MONDO:0005129 True cataract 28 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012180 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 9 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012183 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012184 MONDO:0006025 True Pierson syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012185 MONDO:0016763 True spondylometaphyseal dysplasia, A4 type spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012186 MONDO:0019391 True Fanconi anemia complementation group I Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012187 MONDO:0019391 True Fanconi anemia complementation group J Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012190 MONDO:0017610 True epidermolysis bullosa simplex 7, with nephropathy and deafness epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012191 MONDO:0000732 True hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012192 MONDO:0016391 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome neonatal diabetes mellitus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012192 MONDO:0020022 True permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012193 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012194 MONDO:0016483 True aneurysm, intracranial berry, 3 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012195 MONDO:0019942 True arthrogryposis-severe scoliosis syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012196 MONDO:0019587 True autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012196 MONDO:0021944 True autosomal dominant auditory neuropathy 1 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012197 MONDO:0015610 True idiopathic aplastic anemia acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012198 MONDO:0000426 True PCWH syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012198 MONDO:0002254 True PCWH syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012199 MONDO:0020364 True posterior polymorphous corneal dystrophy 2 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012200 MONDO:0020364 True posterior polymorphous corneal dystrophy 3 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012203 MONDO:0003847 True familial hyperthyroidism due to mutations in TSH receptor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012203 MONDO:0004425 True familial hyperthyroidism due to mutations in TSH receptor hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012204 MONDO:0020102 True familial pseudohyperkalemia hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012205 MONDO:0000211 True autosomal dominant striatal neurodegeneration type 1 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012206 MONDO:0022800 True Czech dysplasia, metatarsal type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012208 MONDO:0015947 True congenital reticular ichthyosiform erythroderma inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012210 MONDO:0100246 True migraine with aura, susceptibility to, 7 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012211 MONDO:0005500 True MPDU1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012211 MONDO:0017749 True MPDU1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012212 MONDO:0018954 True Loeys-Dietz syndrome 1 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012213 MONDO:0015150 True hereditary spastic paraplegia 26 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012214 MONDO:0008733 True glucocorticoid deficiency 3 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012215 MONDO:0016108 True myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012216 MONDO:0044203 True foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012219 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012221 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012222 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 2 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012224 MONDO:0000032 True febrile seizures, familial, 6 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012225 MONDO:0017842 True Senior-Loken syndrome 5 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012226 MONDO:0000032 True febrile seizures, familial, 5 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012227 MONDO:0001384 True myopia 7 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012228 MONDO:0001384 True myopia 8 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012229 MONDO:0001384 True myopia 9 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012230 MONDO:0001384 True myopia 10 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012231 MONDO:0018993 True Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012232 MONDO:0000723 True stuttering, familial persistent, 2 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012235 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 7 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012236 MONDO:0015486 True keratoconus 4 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012245 MONDO:0100062 True developmental and epileptic encephalopathy, 3 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012246 MONDO:0019793 True spinocerebellar ataxia type 26 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012247 MONDO:0019792 True spinocerebellar ataxia type 27 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012248 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2K muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012248 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012248 MONDO:0016184 True autosomal recessive limb-girdle muscular dystrophy type 2K qualitative or quantitative defects of protein O-mannosyltransferase 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012249 MONDO:0000426 True Lynch syndrome 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012249 MONDO:0018630 True Lynch syndrome 2 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012250 MONDO:0018995 True Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012251 MONDO:0002254 True MEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012251 MONDO:0017762 True MEDNIK syndrome disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012251 MONDO:0019270 True MEDNIK syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012252 MONDO:0016473 True rhabdoid tumor predisposition syndrome 1 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012253 MONDO:0016648 True multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012254 MONDO:0016648 True multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012256 MONDO:0015149 True hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012261 MONDO:0020836 True autism, susceptibility to, 6 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012264 MONDO:0005081 True preeclampsia/eclampsia 2 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012265 MONDO:0005081 True preeclampsia/eclampsia 3 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012266 MONDO:0005081 True preeclampsia/eclampsia 4 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012267 MONDO:0016296 True holoprosencephaly 8 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012268 MONDO:0005109 True AIDS HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012269 MONDO:0016902 True chromosome 3q29 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012270 MONDO:0007614 True Tukel syndrome congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012271 MONDO:0019530 True mesoaxial synostotic syndactyly with phalangeal reduction non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012273 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 48 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012274 MONDO:0019696 True acromesomelic dysplasia 3 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012275 MONDO:0002254 True fetal valproate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012275 MONDO:0016677 True fetal valproate syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012276 MONDO:0017704 True generalized epilepsy-paroxysmal dyskinesia syndrome familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0016108 True myofibrillar myopathy 4 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0016190 True myofibrillar myopathy 4 qualitative or quantitative defects of protein ZASP UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0018943 True myofibrillar myopathy 4 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012278 MONDO:0019037 True supranuclear palsy, progressive, 2 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012280 MONDO:0002254 True Goldberg-Shprintzen megacolon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012280 MONDO:0003847 True Goldberg-Shprintzen megacolon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012280 MONDO:0015159 True Goldberg-Shprintzen megacolon syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012285 MONDO:0018901 True left ventricular noncompaction 2 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012289 MONDO:0016189 True myofibrillar myopathy 5 qualitative or quantitative defects of filamin C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012289 MONDO:0018943 True myofibrillar myopathy 5 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012290 MONDO:0002254 True CEDNIK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012290 MONDO:0017666 True CEDNIK syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012293 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 23 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012297 MONDO:0015150 True SPOAN syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012299 MONDO:0005514 True nanophthalmos 2 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012301 MONDO:0018158 True mitochondrial DNA depletion syndrome, myopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012301 MONDO:0019238 True mitochondrial DNA depletion syndrome, myopathic form inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012302 MONDO:0018953 True parietal foramina 3 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012303 MONDO:0100246 True migraine with or without aura, susceptibility to, 8 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012304 MONDO:0015643 True photoparoxysmal response 2 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012305 MONDO:0015643 True photoparoxysmal response 3 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012306 MONDO:0016340 True cardiomyopathy, familial restrictive, 2 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012307 MONDO:0015704 True familial scaphocephaly syndrome, McGillivray type familial scaphocephaly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012308 MONDO:0018772 True Joubert syndrome with renal defect Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012309 MONDO:0018953 True parietal foramina 2 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012312 MONDO:0000453 True short QT syndrome type 1 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012313 MONDO:0000453 True short QT syndrome type 2 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012314 MONDO:0000453 True short QT syndrome type 3 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012315 MONDO:0016909 True distal 10q deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012316 MONDO:0009813 True Majeed syndrome chronic recurrent multifocal osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012320 MONDO:0000700 True migraine, familial hemiplegic, 3 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012324 MONDO:0015161 True Frias syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012324 MONDO:0016912 True Frias syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012326 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 42 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012327 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 46 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012330 MONDO:0019707 True talo-patello-scaphoid osteolysis primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012331 MONDO:0100246 True migraine with aura, susceptibility to, 9 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012333 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 53 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012334 MONDO:0015087 True hereditary spastic paraplegia 29 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012335 MONDO:0019182 True obesity due to pro-opiomelanocortin deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012342 MONDO:0003847 True 7q11.23 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012342 MONDO:0016958 True 7q11.23 microduplication syndrome partial duplication of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012343 MONDO:0007031 True aortic aneurysm, familial abdominal, 2 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012345 MONDO:0019347 True acral peeling skin syndrome peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012346 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012348 MONDO:0018911 True maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012351 MONDO:0008512 True zygodactyly type 1 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012353 MONDO:0001115 True erythrocytosis, familial, 3 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012354 MONDO:0000009 True platelet-type bleeding disorder 8 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012354 MONDO:0021181 True platelet-type bleeding disorder 8 inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012355 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 28 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012360 MONDO:0000045 True congenital nongoitrous hypothryoidism 3 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012362 MONDO:0016333 True dilated cardiomyopathy 1P familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012363 MONDO:0019200 True retinitis pigmentosa 32 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012364 MONDO:0016333 True dilated cardiomyopathy 1Q familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012365 MONDO:0700225 True gallbladder disease 2 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012366 MONDO:0700225 True gallbladder disease 3 hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012367 MONDO:0019200 True retinitis pigmentosa 31 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012368 MONDO:0017686 True aminoacylase 1 deficiency inborn aminoacylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012370 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 51 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012371 MONDO:0018997 True Noonan syndrome 3 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012375 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 47 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012376 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 55 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012377 MONDO:0100440 True asperger syndrome, susceptibility to, 4 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012378 MONDO:0016070 True fibromatosis, gingival, 3 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012380 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 53 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012381 MONDO:0017182 True hyperinsulinism due to INSR deficiency familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012382 MONDO:0015624 True hyperinsulinemic hypoglycemia, familial, 4 diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012383 MONDO:0021094 True primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012384 MONDO:0031240 True panic disorder 3 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012387 MONDO:0019852 True osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012388 MONDO:0001384 True myopia 11, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012389 MONDO:0001384 True myopia 12, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012391 MONDO:0020074 True neuronal ceroid lipofuscinosis 8 northern epilepsy variant progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012392 MONDO:0019215 True 2-methylbutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012393 MONDO:0017352 True congenital brain dysgenesis due to glutamine synthetase deficiency disorder of glutamine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012394 MONDO:0017923 True multiple synostoses syndrome 2 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012395 MONDO:0005129 True cataract 18 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012396 MONDO:0015624 True exercise-induced hyperinsulinism diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012396 MONDO:0017706 True exercise-induced hyperinsulinism disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012399 MONDO:0000904 True complex cortical dysplasia with other brain malformations 7 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012399 MONDO:0015159 True complex cortical dysplasia with other brain malformations 7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012400 MONDO:0003847 True cortical dysplasia-focal epilepsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012401 MONDO:0020213 True congenital stromal corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012405 MONDO:0011023 True polyposis syndrome, hereditary mixed, 2 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012407 MONDO:0019237 True pyridoxal phosphate-responsive seizures inborn disorder of pyridoxine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012408 MONDO:0000170 True microphthalmia, isolated, with coloboma 3 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012409 MONDO:0000062 True isolated microphthalmia 2 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012410 MONDO:0016108 True Finnish upper limb-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012411 MONDO:0000128 True giant axonal neuropathy 2 giant axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012411 MONDO:0018993 True giant axonal neuropathy 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012413 MONDO:0016073 True syndromic microphthalmia type 5 syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012417 MONDO:0016432 True heart-hand syndrome, Slovenian type heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012418 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 62 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012419 MONDO:0005150 True age related macular degeneration 7 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012420 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 49 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 44 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012425 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 2 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012429 MONDO:0018866 True Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012430 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012431 MONDO:0005711 True diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012433 MONDO:0017842 True Senior-Loken syndrome 6 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012434 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 10 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012435 MONDO:0017359 True 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012436 MONDO:0016391 True neonatal diabetes mellitus with congenital hypothyroidism neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012438 MONDO:0020135 True pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012439 MONDO:0007318 True Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012440 MONDO:0100246 True migraine with or without aura, susceptibility to, 10 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012441 MONDO:0100246 True migraine with or without aura, susceptibility to, 11 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012442 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 66 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012443 MONDO:0016483 True aneurysm, intracranial berry, 4 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012445 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 59 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012446 MONDO:0019268 True seborrhea-like dermatitis with psoriasiform elements epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012448 MONDO:0019064 True hereditary spastic paraplegia 33 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012449 MONDO:0019792 True spinocerebellar ataxia type 23 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012450 MONDO:0016387 True spinocerebellar ataxia type 28 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012450 MONDO:0019792 True spinocerebellar ataxia type 28 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012452 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 65 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012453 MONDO:0019064 True hereditary spastic paraplegia 31 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012455 MONDO:0015159 True Kleefstra syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012456 MONDO:0001176 True congenital primary aphakia lens disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012456 MONDO:0019503 True congenital primary aphakia anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012457 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 2 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012460 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 67 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012463 MONDO:0019200 True retinitis pigmentosa 35 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012464 MONDO:0015993 True cone-rod dystrophy 10 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012465 MONDO:0017748 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012465 MONDO:0021181 True hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012467 MONDO:0015526 True cold-induced sweating syndrome 2 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012469 MONDO:0001384 True myopia 14 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012471 MONDO:0018866 True Aicardi-Goutieres syndrome 3 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012472 MONDO:0018866 True Aicardi-Goutieres syndrome 4 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012474 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 4 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012474 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012475 MONDO:0000455 True cone dystrophy with supernormal rod response cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012476 MONDO:0019064 True hereditary spastic paraplegia 30 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012477 MONDO:0019200 True retinitis pigmentosa 33 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012478 MONDO:0000358 True orofacial cleft 9 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012479 MONDO:0000824 True congenital malabsorptive diarrhea 4 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012481 MONDO:0017708 True mevalonic aciduria mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012483 MONDO:0015993 True cone-rod dystrophy 11 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012485 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 68 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012487 MONDO:0008756 True alopecia-intellectual disability syndrome 2 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012491 MONDO:0100280 True macroglobulinemia, Waldenstrom, 2 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012492 MONDO:0100170 True restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012493 MONDO:0100170 True restless legs syndrome, susceptibility to, 4 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012495 MONDO:0100510 True spondyloepimetaphyseal dysplasia, Genevieve type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012496 MONDO:0015159 True Koolen-de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012497 MONDO:0000426 True congenital stationary night blindness autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012497 MONDO:0016293 True congenital stationary night blindness autosomal dominant 3 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012498 MONDO:0016293 True congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012500 MONDO:0018827 True chilblain lupus 1 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012502 MONDO:0018891 True normophosphatemic familial tumoral calcinosis familial tumoral calcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012503 MONDO:0000210 True thiopurine S-methyltransferase deficiency thiopurine metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012504 MONDO:0000429 True camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012504 MONDO:0019685 True camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012505 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 2 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012506 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 11 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012507 MONDO:0000455 True retinal cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012508 MONDO:0015159 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012508 MONDO:0016463 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012509 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 1 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012511 MONDO:0002263 True preterm premature rupture of the membranes female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012513 MONDO:0018911 True maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012514 MONDO:0019046 True hypomyelinating leukodystrophy 5 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012516 MONDO:0000426 True mandibulofacial dysostosis-microcephaly syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012516 MONDO:0015159 True mandibulofacial dysostosis-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012516 MONDO:0018237 True mandibulofacial dysostosis-microcephaly syndrome acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012518 MONDO:0000182 True congenital myasthenic syndrome 12 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012521 MONDO:0006009 True herpes simplex encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012523 MONDO:0019200 True retinitis pigmentosa 36 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012525 MONDO:0018998 True Leber congenital amaurosis 12 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012526 MONDO:0019623 True hereditary angioedema type 3 hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012529 MONDO:0015253 True Diamond-Blackfan anemia 3 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012530 MONDO:0017576 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012530 MONDO:0017666 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012532 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 4 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012533 MONDO:0020836 True autism, susceptibility to, 7 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012544 MONDO:0000429 True brachydactyly-syndactyly syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012545 MONDO:0015611 True neutral lipid storage myopathy neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012547 MONDO:0018997 True Noonan syndrome 4 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012548 MONDO:0015356 True Kostmann syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012548 MONDO:0028226 True Kostmann syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012549 MONDO:0015244 True autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012551 MONDO:0000005 True alopecia areata 2 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012552 MONDO:0000426 True multiple endocrine neoplasia type 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012552 MONDO:0017169 True multiple endocrine neoplasia type 4 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012553 MONDO:0008926 True cerebrooculofacioskeletal syndrome 2 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012554 MONDO:0008926 True cerebrooculofacioskeletal syndrome 4 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012555 MONDO:0016033 True Cornelia de Lange syndrome 3 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012556 MONDO:0005500 True DK1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012556 MONDO:0016333 True DK1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012556 MONDO:0017749 True DK1-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012557 MONDO:0016801 True cardiomyopathy-hypotonia-lactic acidosis syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012559 MONDO:0015134 True primary immunodeficiency syndrome due to p14 deficiency constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012566 MONDO:0020836 True autism, susceptibility to, 11 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012567 MONDO:0020836 True autism, susceptibility to, 12 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012569 MONDO:0008004 True mitral valve prolapse, myxomatous 3 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012573 MONDO:0017329 True vesicoureteral reflux 2 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012574 MONDO:0003847 True Potocki-Lupski syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012574 MONDO:0016950 True Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012576 MONDO:0019037 True supranuclear palsy, progressive, 3 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012583 MONDO:0005486 True tooth agenesis, selective, 5 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012589 MONDO:0003847 True Pitt-Hopkins syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012589 MONDO:0015159 True Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012590 MONDO:0002254 True XFE progeroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012590 MONDO:0003847 True XFE progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012594 MONDO:0003832 True complement factor I deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012596 MONDO:0018162 True PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012598 MONDO:0016070 True fibromatosis, gingival, 4 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012600 MONDO:0020836 True autism, susceptibility to, 9 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012601 MONDO:0020836 True autism, susceptibility to, 10 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012603 MONDO:0044202 True episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012605 MONDO:0000062 True isolated microphthalmia 5 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012608 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012608 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 4 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012610 MONDO:0005265 True inflammatory bowel disease 10 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012611 MONDO:0015653 True polyhydramnios, megalencephaly, and symptomatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012612 MONDO:0019502 True intellectual disability, autosomal recessive 12 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012613 MONDO:0019502 True intellectual disability, autosomal recessive 5 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012614 MONDO:0019502 True intellectual disability, autosomal recessive 6 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012615 MONDO:0019502 True intellectual disability, autosomal recessive 7 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012617 MONDO:0019502 True intellectual disability, autosomal recessive 9 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012618 MONDO:0019502 True intellectual disability, autosomal recessive 10 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012619 MONDO:0019502 True intellectual disability, autosomal recessive 11 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012621 MONDO:0016913 True deafness-infertility syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012622 MONDO:0016387 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012622 MONDO:0019046 True leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012623 MONDO:0019502 True intellectual disability, autosomal recessive 4 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012625 MONDO:0019200 True retinitis pigmentosa 37 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012626 MONDO:0018921 True Meckel syndrome, type 4 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012635 MONDO:0005501 True COG8-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012635 MONDO:0017750 True COG8-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012636 MONDO:0100170 True restless legs syndrome, susceptibility to, 6 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012637 MONDO:0005501 True COG1-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012637 MONDO:0015327 True COG1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012637 MONDO:0017750 True COG1-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012638 MONDO:0016073 True microphthalmia-brain atrophy syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012638 MONDO:0024237 True microphthalmia-brain atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012640 MONDO:0018995 True Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012641 MONDO:0100170 True restless legs syndrome, susceptibility to, 5 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012643 MONDO:0015150 True hereditary spastic paraplegia 32 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012644 MONDO:0018770 True asphyxiating thoracic dystrophy 2 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012648 MONDO:0019215 True isobutyryl-CoA dehydrogenase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012650 MONDO:0031520 True Cernunnos-XLF deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012651 MONDO:0015150 True spastic ataxia 2 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012651 MONDO:0017845 True spastic ataxia 2 spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012652 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012653 MONDO:0019631 True persistent hyperplastic primary vitreous, autosomal dominant persistent hyperplastic primary vitreous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012654 MONDO:0006664 True atrial septal defect 4 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012656 MONDO:0015161 True lethal congenital contracture syndrome 3 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012656 MONDO:0017436 True lethal congenital contracture syndrome 3 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012658 MONDO:0019676 True brachydactyly type B2 brachydactyly type B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012659 MONDO:0005150 True age related macular degeneration 9 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012662 MONDO:0016484 True Usher syndrome type 2D Usher syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012664 MONDO:0016387 True spastic ataxia 3 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012664 MONDO:0017847 True spastic ataxia 3 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012667 MONDO:0016333 True dilated cardiomyopathy 1W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012669 MONDO:0019289 True Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012670 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 63 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012671 MONDO:0003233 True tremor, hereditary essential, 3 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012672 MONDO:0700225 True cholelithiasis hereditary gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012674 MONDO:0005150 True age related macular degeneration 10 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012675 MONDO:0003847 True corticosteroid-binding globulin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012675 MONDO:0005495 True corticosteroid-binding globulin deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012676 MONDO:0019026 True autosomal recessive osteopetrosis 4 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012677 MONDO:0018054 True atrial fibrillation, familial, 4 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012678 MONDO:0018054 True atrial fibrillation, familial, 5 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012679 MONDO:0019026 True autosomal recessive osteopetrosis 6 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012680 MONDO:0019005 True nephronophthisis 7 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012681 MONDO:0000032 True febrile seizures, familial, 7 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012682 MONDO:0015979 True immunodeficiency 35 hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012683 MONDO:0016387 True pontocerebellar hypoplasia type 6 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012683 MONDO:0020135 True pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012684 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 12 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012689 MONDO:0019852 True premature ovarian failure 5 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012690 MONDO:0018997 True Noonan syndrome 5 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012691 MONDO:0007893 True LEOPARD syndrome 2 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012693 MONDO:0002412 True glycogen storage disease due to muscle and heart glycogen synthase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012694 MONDO:0018772 True Joubert syndrome 7 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012695 MONDO:0018921 True Meckel syndrome, type 5 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012696 MONDO:0005349 True otosclerosis 4 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012697 MONDO:0005349 True otosclerosis 7 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012699 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2M muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012699 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012699 MONDO:0016333 True autosomal recessive limb-girdle muscular dystrophy type 2M familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012700 MONDO:0015827 True renal tubular acidosis, distal, 4, with hemolytic anemia distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012701 MONDO:0005129 True cataract 12 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012704 MONDO:0016333 True dilated cardiomyopathy 1X familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012705 MONDO:0005115 True familial temporal lobe epilepsy 3 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012706 MONDO:0005115 True familial temporal lobe epilepsy 4 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012707 MONDO:0000032 True familial febrile seizures 9 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012709 MONDO:0000170 True microphthalmia, isolated, with coloboma 5 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012713 MONDO:0016763 True spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012714 MONDO:0016333 True early-onset myopathy with fatal cardiomyopathy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012714 MONDO:0019056 True early-onset myopathy with fatal cardiomyopathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012715 MONDO:0100246 True migraine with or without aura, susceptibility to, 12 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012716 MONDO:0016761 True spondyloepiphyseal dysplasia, Cantu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012718 MONDO:0000732 True hypotonia with lactic acidemia and hyperammonemia combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012721 MONDO:0016295 True progressive myoclonic epilepsy type 3 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012721 MONDO:0020074 True progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012723 MONDO:0018998 True Leber congenital amaurosis 10 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012724 MONDO:0018768 True familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012725 MONDO:0015905 True lipoprotein glomerulopathy syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012727 MONDO:0002052 True mucocutaneous lymph node syndrome lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012727 MONDO:0018882 True mucocutaneous lymph node syndrome vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012728 MONDO:0015263 True Brugada syndrome 2 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012729 MONDO:0001115 True erythrocytosis, familial, 4 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012730 MONDO:0019625 True aortic aneurysm, familial thoracic 6 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012733 MONDO:0003004 True autosomal recessive bestrophinopathy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012736 MONDO:0019171 True long QT syndrome 9 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012737 MONDO:0019171 True long QT syndrome 10 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012738 MONDO:0019171 True long QT syndrome 11 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012742 MONDO:0015263 True Brugada syndrome 3 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012743 MONDO:0015263 True Brugada syndrome 4 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012744 MONDO:0018901 True dilated cardiomyopathy 1Y left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012745 MONDO:0016333 True dilated cardiomyopathy 1Z familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012746 MONDO:0016333 True dilated cardiomyopathy 2A familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012748 MONDO:0016575 True primary ciliary dyskinesia 7 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012750 MONDO:0015168 True lethal arthrogryposis-anterior horn cell disease syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012751 MONDO:0007031 True aortic aneurysm, familial abdominal, 3 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012752 MONDO:0016483 True aneurysm, intracranial berry, 6 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012753 MONDO:0005144 True amyotrophic lateral sclerosis type 9 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012754 MONDO:0005514 True nanophthalmos 3 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012755 MONDO:0016227 True episodic ataxia type 7 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012756 MONDO:0016894 True proximal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012757 MONDO:0017015 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012757 MONDO:0044200 True lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012759 MONDO:0015159 True camptodactyly syndrome, Guadalajara type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012759 MONDO:0018234 True camptodactyly syndrome, Guadalajara type 3 dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012761 MONDO:0016954 True chromosome 3q29 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012762 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012764 MONDO:0015244 True RIDDLE syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012765 MONDO:0019313 True lymphatic malformation 2 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012766 MONDO:0015149 True hereditary spastic paraplegia 37 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012767 MONDO:0005150 True age related macular degeneration 11 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012774 MONDO:0015159 True chromosome 15q13.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012774 MONDO:0016913 True chromosome 15q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012775 MONDO:0100241 True thrombocytopenia 4 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012783 MONDO:0005500 True RFT1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012783 MONDO:0015327 True RFT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012783 MONDO:0017740 True RFT1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012784 MONDO:0015244 True autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012784 MONDO:0018151 True autosomal recessive ataxia due to ubiquinone deficiency coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012785 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 3 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012786 MONDO:0000426 True juvenile cataract-microcornea-renal glucosuria syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012786 MONDO:0017706 True juvenile cataract-microcornea-renal glucosuria syndrome disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0015150 True hereditary spastic paraplegia 39 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0018117 True hereditary spastic paraplegia 39 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012789 MONDO:0000478 True dystonia 16 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012789 MONDO:0020065 True dystonia 16 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012790 MONDO:0005144 True amyotrophic lateral sclerosis type 10 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012791 MONDO:0016796 True mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012792 MONDO:0016796 True mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0002254 True ANE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012794 MONDO:0015770 True ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0018762 True ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012797 MONDO:0005349 True otosclerosis 8 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012801 MONDO:0020836 True autism, susceptibility to, 15 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012802 MONDO:0016073 True oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012803 MONDO:0017706 True diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012805 MONDO:0000188 True childhood onset GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012805 MONDO:0015427 True childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012808 MONDO:0016333 True dilated cardiomyopathy 1AA familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012810 MONDO:0016483 True aneurysm, intracranial berry, 7 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012811 MONDO:0016483 True aneurysm, intracranial berry, 8 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012812 MONDO:0100062 True developmental and epileptic encephalopathy, 4 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012813 MONDO:0019200 True retinitis pigmentosa 29 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012816 MONDO:0018054 True atrial fibrillation, familial, 6 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012817 MONDO:0005089 True Ewing sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012817 MONDO:0021038 True Ewing sarcoma Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012818 MONDO:0018911 True maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012824 MONDO:0017226 True hypomyelinating leukodystrophy 4 Pelizaeus-Merzbacher-like disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012825 MONDO:0018078 True extraskeletal myxoid chondrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012828 MONDO:0018054 True atrial fibrillation, familial, 7 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012829 MONDO:0005265 True inflammatory bowel disease 12 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012830 MONDO:0016909 True chromosome 10q23 deletion syndrome partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012831 MONDO:0005265 True inflammatory bowel disease 13 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012832 MONDO:0005265 True inflammatory bowel disease 14 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012833 MONDO:0000426 True Crouzon syndrome-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012833 MONDO:0015338 True Crouzon syndrome-acanthosis nigricans syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012837 MONDO:0005265 True inflammatory bowel disease 15 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012838 MONDO:0005265 True inflammatory bowel disease 16 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012839 MONDO:0015979 True pyogenic bacterial infections due to MyD88 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012840 MONDO:0005265 True inflammatory bowel disease 17 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012841 MONDO:0005265 True inflammatory bowel disease 18 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012842 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 7 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012844 MONDO:0016575 True primary ciliary dyskinesia 8 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012845 MONDO:0005265 True inflammatory bowel disease 19 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012846 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012848 MONDO:0018921 True Meckel syndrome, type 6 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012849 MONDO:0018772 True Joubert syndrome 9 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012850 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 1 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012851 MONDO:0000079 True hypophosphatemic nephrolithiasis/osteoporosis 2 nephrolithiasis/osteoporosis, hypophosphatemic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012852 MONDO:0005265 True inflammatory bowel disease 20 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012853 MONDO:0015161 True Fontaine progeroid syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012853 MONDO:0019287 True Fontaine progeroid syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012855 MONDO:0018772 True Joubert syndrome 8 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012856 MONDO:0000426 True Birk-Barel syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012858 MONDO:0020127 True primary CD59 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012859 MONDO:0019026 True autosomal recessive osteopetrosis 7 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012860 MONDO:0019145 True thrombophilia due to protein C deficiency, autosomal recessive hereditary thrombophilia due to congenital protein C deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012861 MONDO:0019852 True premature ovarian failure 6 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012864 MONDO:0016901 True chromosome 2q32-q33 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012864 MONDO:0100147 True chromosome 2q32-q33 deletion syndrome SATB2 associated disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012866 MONDO:0019064 True hereditary spastic paraplegia 35 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012867 MONDO:0015087 True hereditary spastic paraplegia 38 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012868 MONDO:0000426 True thrombophilia due to protein S deficiency, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012869 MONDO:0015802 True intellectual disability, autosomal dominant 22 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012871 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 2 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012872 MONDO:0100240 True thrombophilia, familial, due to decreased release of tissue plasminogen activator inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012875 MONDO:0005265 True inflammatory bowel disease 21 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012876 MONDO:0100240 True heparin cofactor 2 deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012883 MONDO:0018874 True acute promyelocytic leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0012885 MONDO:0005500 True SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012885 MONDO:0017749 True SRD5A3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012886 MONDO:0005265 True inflammatory bowel disease 22 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012887 MONDO:0005265 True inflammatory bowel disease 23 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012890 MONDO:0016759 True pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012891 MONDO:0016759 True pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012892 MONDO:0019755 True bone fragility with contractures, arterial rupture, and deafness developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012895 MONDO:0015990 True torsion dystonia 17 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0000429 True congenital factor XI deficiency autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012897 MONDO:0021181 True congenital factor XI deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012899 MONDO:0000005 True alopecia, androgenetic, 3 alopecia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012900 MONDO:0016340 True cardiomyopathy, familial restrictive, 3 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012901 MONDO:0021181 True inherited prekallikrein deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012902 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 27 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012903 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 45 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012904 MONDO:0020074 True epilepsy, progressive myoclonic, 1B progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012905 MONDO:0019046 True hypomyelinating leukodystrophy 6 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012906 MONDO:0016575 True primary ciliary dyskinesia 9 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012907 MONDO:0019755 True blindness - scoliosis - arachnodactyly syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0019695 True pseudohypoparathyroidism type 1C acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0019992 True pseudohypoparathyroidism type 1C pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012912 MONDO:0019695 True pseudopseudohypoparathyroidism acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012912 MONDO:0019992 True pseudopseudohypoparathyroidism pseudohypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012914 MONDO:0022756 True chromosome 1q21.1 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012915 MONDO:0016952 True chromosome 1q21.1 duplication syndrome partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012916 MONDO:0016884 True chromosome 2p16.1-p15 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012917 MONDO:0000724 True specific language impairment 4 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012918 MONDO:0016575 True primary ciliary dyskinesia 10 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012922 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 5 inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012927 MONDO:0016296 True chromosome 1q41-q42 deletion syndrome holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012927 MONDO:0022756 True chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012928 MONDO:0015149 True hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012929 MONDO:0019952 True Compton-North congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012930 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to G6PC3 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012932 MONDO:0001384 True myopia 16, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012933 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012937 MONDO:0015253 True Diamond-Blackfan anemia 6 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012938 MONDO:0015253 True Diamond-Blackfan anemia 7 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012939 MONDO:0015253 True Diamond-Blackfan anemia 8 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012940 MONDO:0005265 True inflammatory bowel disease 24 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012943 MONDO:0019200 True retinitis pigmentosa 46 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012945 MONDO:0005144 True amyotrophic lateral sclerosis type 11 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012946 MONDO:0100172 True intellectual disability, autosomal dominant 3 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012947 MONDO:0100172 True intellectual disability, autosomal dominant 4 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012948 MONDO:0015159 True chromosome 6pter-p24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012948 MONDO:0016888 True chromosome 6pter-p24 deletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012949 MONDO:0016483 True aneurysm, intracranial berry, 9 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012950 MONDO:0016483 True aneurysm, intracranial berry, 10 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012956 MONDO:0007462 True multiple sclerosis, susceptibility to, 2 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012957 MONDO:0007462 True multiple sclerosis, susceptibility to, 3 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012958 MONDO:0007462 True multiple sclerosis, susceptibility to, 4 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012960 MONDO:0100172 True intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012962 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 2 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012963 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 3 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012964 MONDO:0016913 True chromosome 15q26-qter deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012965 MONDO:0017615 True seizures, benign familial infantile, 4 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012966 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 4 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012968 MONDO:0010168 True Usher syndrome type 1H Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012969 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 5 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012970 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 6 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012971 MONDO:0000065 True microvascular complications of diabetes, susceptibility to, 7 microvascular complications of diabetes, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012972 MONDO:0000032 True febrile seizures, familial, 10 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012973 MONDO:0005265 True inflammatory bowel disease 26 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012974 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 59 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012975 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 3B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012976 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 2B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012977 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012978 MONDO:0016575 True primary ciliary dyskinesia 11 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012979 MONDO:0016575 True primary ciliary dyskinesia 12 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012980 MONDO:0003847 True endocrine-cerebro-osteodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012980 MONDO:0043009 True endocrine-cerebro-osteodysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012981 MONDO:0019350 True hereditary spherocytosis type 4 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012982 MONDO:0016227 True episodic ataxia type 6 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012983 MONDO:0015993 True cone-rod dystrophy 12 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012984 MONDO:0006025 True PHARC syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012984 MONDO:0018117 True PHARC syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012984 MONDO:0020127 True PHARC syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012985 MONDO:0019350 True hereditary spherocytosis type 5 hereditary spherocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012986 MONDO:0003847 True bilateral parasagittal parieto-occipital polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012986 MONDO:0017091 True bilateral parasagittal parieto-occipital polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012989 MONDO:0016660 True microcephaly 7, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012990 MONDO:0018998 True Leber congenital amaurosis 13 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012991 MONDO:0006025 True Kahrizi syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012992 MONDO:0016387 True pancreatic insufficiency-anemia-hyperostosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012993 MONDO:0000736 True dyschromatosis universalis hereditaria 2 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012994 MONDO:0016812 True dopa-responsive dystonia due to sepiapterin reductase deficiency dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012994 MONDO:0044807 True dopa-responsive dystonia due to sepiapterin reductase deficiency inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012995 MONDO:0001384 True myopia 15, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013000 MONDO:0002520 True porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013000 MONDO:0019142 True porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013005 MONDO:0015962 True EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013005 MONDO:0100309 True EAST syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013006 MONDO:0000050 True isolated growth hormone deficiency type IB isolated congenital growth hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013007 MONDO:0015695 True combined immunodeficiency due to ORAI1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013008 MONDO:0015695 True combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to CRAC channel dysfunction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013010 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 71 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013011 MONDO:0006664 True atrial septal defect 5 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013012 MONDO:0005265 True inflammatory bowel disease 27 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013015 MONDO:0015263 True Brugada syndrome 5 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013016 MONDO:0017570 True leukocyte adhesion deficiency 3 leukocyte adhesion deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013018 MONDO:0000136 True keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013021 MONDO:0009813 True sterile multifocal osteomyelitis with periostitis and pustulosis chronic recurrent multifocal osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013022 MONDO:0100170 True restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013023 MONDO:0000358 True orofacial cleft 12 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013025 MONDO:0016905 True chromosome 6q24-q25 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013026 MONDO:0000763 True subepithelial mucinous corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013026 MONDO:0020212 True subepithelial mucinous corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013027 MONDO:0020213 True posterior amorphous corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013028 MONDO:0009637 True adenosine monophosphate deaminase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013028 MONDO:0019236 True adenosine monophosphate deaminase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013029 MONDO:0020380 True cerebellar ataxia type 9 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013030 MONDO:0016333 True dilated cardiomyopathy 1BB familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013031 MONDO:0020341 True chromosome 5Q14.3 deletion syndrome, distal periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013033 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 2 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013034 MONDO:0018865 True keratosis palmoplantaris striata 2 striate palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013035 MONDO:0015375 True orofaciodigital syndrome XI orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013036 MONDO:0015159 True Zechi-Ceide syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013038 MONDO:0002254 True CLOVES syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013038 MONDO:0019296 True CLOVES syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013039 MONDO:0007477 True 3M syndrome 2 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013046 MONDO:0002412 True glycogen storage disease due to muscle beta-enolase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013047 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013048 MONDO:0019064 True hereditary spastic paraplegia 50 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013049 MONDO:0005500 True DPM3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013049 MONDO:0017749 True DPM3-congenital disorder of glycosylation disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013049 MONDO:0018276 True DPM3-congenital disorder of glycosylation muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013050 MONDO:0043009 True lethal polymalformative syndrome, Boissel type hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013051 MONDO:0019573 True autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013052 MONDO:0019200 True retinitis pigmentosa 42 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013053 MONDO:0015161 True microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013056 MONDO:0016801 True developmental and epileptic encephalopathy, 39 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013058 MONDO:0019046 True cystic leukoencephalopathy without megalencephaly leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013059 MONDO:0018866 True Aicardi-Goutieres syndrome 5 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013060 MONDO:0008199 True autosomal recessive Parkinson disease 14 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013060 MONDO:0017998 True autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013061 MONDO:0018943 True myofibrillar myopathy 6 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013062 MONDO:0019171 True long QT syndrome 12 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013064 MONDO:0017923 True multiple synostoses syndrome 3 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013065 MONDO:0019852 True premature ovarian failure 7 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013066 MONDO:0010765 True 46,XY sex reversal 3 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013067 MONDO:0005129 True cataract 34 multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013069 MONDO:0016387 True autosomal recessive optic atrophy, OPA7 type mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013069 MONDO:0043878 True autosomal recessive optic atrophy, OPA7 type hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013070 MONDO:0004983 True spermatogenic failure 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013074 MONDO:0006574 True encephalocraniocutaneous lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013074 MONDO:0019296 True encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013090 MONDO:0015159 True chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013090 MONDO:0016917 True chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013092 MONDO:0100242 True glioma susceptibility 2 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013093 MONDO:0100242 True glioma susceptibility 3 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013094 MONDO:0100242 True glioma susceptibility 5 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013095 MONDO:0100242 True glioma susceptibility 6 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013096 MONDO:0100242 True glioma susceptibility 7 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013097 MONDO:0100242 True glioma susceptibility 8 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013099 MONDO:0015770 True combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013100 MONDO:0018054 True atrial fibrillation, familial, 8 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013110 MONDO:0005528 True neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013110 MONDO:0017313 True neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013110 MONDO:0024237 True neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013111 MONDO:0016387 True acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013114 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 50 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013116 MONDO:0009637 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013116 MONDO:0016387 True congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013118 MONDO:0015161 True Nijmegen breakage syndrome-like disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013119 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 77 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013120 MONDO:0010765 True 46,XY sex reversal 5 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013123 MONDO:0006664 True atrial septal defect 6 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013125 MONDO:0019716 True CLAPO syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013127 MONDO:0018770 True asphyxiating thoracic dystrophy 3 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013128 MONDO:0000608 True familial juvenile hyperuricemic nephropathy type 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013128 MONDO:0015962 True familial juvenile hyperuricemic nephropathy type 2 inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013130 MONDO:0000062 True isolated microphthalmia 4 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013131 MONDO:0004691 True polycystic kidney disease 2 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013132 MONDO:0015087 True hereditary spastic paraplegia 36 autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013133 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 5 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013135 MONDO:0015541 True familial hemophagocytic lymphohistiocytosis 5 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013136 MONDO:0004907 True hereditary hypotrichosis with recurrent skin vesicles alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013137 MONDO:0008982 True choroidal dystrophy, central areolar 2 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013139 MONDO:0008742 True neutropenia, severe congenital, 2, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013140 MONDO:0015279 True candidiasis, familial, 4 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013142 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013143 MONDO:0018374 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013143 MONDO:0018383 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013143 MONDO:0100240 True hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0018374 True hereditary antithrombin deficiency secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0018383 True hereditary antithrombin deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013144 MONDO:0100240 True hereditary antithrombin deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013145 MONDO:0015263 True Brugada syndrome 6 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013146 MONDO:0015263 True Brugada syndrome 7 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013147 MONDO:0016333 True dilated cardiomyopathy 1CC familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013148 MONDO:0015263 True Brugada syndrome 8 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013150 MONDO:0020065 True parkinsonism-dystonia, infantile combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013151 MONDO:0008982 True choroidal dystrophy, central areolar, 3 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013154 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013155 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013156 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013157 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013158 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013159 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013160 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013161 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2O muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013161 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013162 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013162 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013162 MONDO:0016185 True autosomal recessive limb-girdle muscular dystrophy type 2N qualitative or quantitative defects of protein O-mannosyltransferase 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013163 MONDO:0019005 True nephronophthisis-like nephropathy 1 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013164 MONDO:0019238 True beta-ureidopropionase deficiency inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013166 MONDO:0000698 True GABA aminotransaminase deficiency gamma-amino butyric acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013166 MONDO:0017684 True GABA aminotransaminase deficiency disorder of beta and omega amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013167 MONDO:0005180 True parkinson disease 16 Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013168 MONDO:0016333 True dilated cardiomyopathy 1DD familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013169 MONDO:0015159 True chromosome 5p13 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013169 MONDO:0016942 True chromosome 5p13 duplication syndrome partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013170 MONDO:0006025 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013170 MONDO:0100237 True cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013171 MONDO:0019236 True purine nucleoside phosphorylase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013173 MONDO:0019502 True intellectual disability, autosomal recessive 13 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013174 MONDO:0016575 True primary ciliary dyskinesia 13 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013175 MONDO:0019200 True retinitis pigmentosa 50 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013176 MONDO:0018096 True Weill-Marchesani 4 syndrome, recessive Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013177 MONDO:0019950 True congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013178 MONDO:0019950 True congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013179 MONDO:0015150 True hereditary spastic paraplegia 44 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013182 MONDO:0015159 True chromosome 17p13.3 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013182 MONDO:0016950 True chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013188 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013191 MONDO:0005363 True focal segmental glomerulosclerosis 5 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013192 MONDO:0024512 True spondyloarthropathy, susceptibility to, 3 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013195 MONDO:0024573 True hypertrophic cardiomyopathy 13 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013196 MONDO:0018630 True Lynch syndrome 8 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013197 MONDO:0024573 True hypertrophic cardiomyopathy 14 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013198 MONDO:0016333 True dilated cardiomyopathy 1EE familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013199 MONDO:0001734 True tuberous sclerosis 2 tuberous sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013200 MONDO:0024573 True hypertrophic cardiomyopathy 15 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013203 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 3 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013204 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 4 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013205 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 5 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013206 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 6 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013207 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 7 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013208 MONDO:0000214 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013208 MONDO:0017766 True cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome disorder of manganese transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013209 MONDO:0004790 True metabolic dysfunction-associated steatotic liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013210 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 25 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013211 MONDO:0016333 True dilated cardiomyopathy 1FF familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013212 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013215 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 79 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013216 MONDO:0015253 True Diamond-Blackfan anemia 9 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013217 MONDO:0015253 True Diamond-Blackfan anemia 10 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013220 MONDO:0019257 True hemochromatosis type 2B hemochromatosis type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013221 MONDO:0009685 True Miyoshi muscular dystrophy 2 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013222 MONDO:0009685 True Miyoshi muscular dystrophy 3 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013223 MONDO:0016763 True autosomal recessive spondylometaphyseal dysplasia, Megarbane type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013224 MONDO:0016473 True rhabdoid tumor predisposition syndrome 2 familial rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013225 MONDO:0006536 True congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013226 MONDO:0003778 True combined immunodeficiency with faciooculoskeletal anomalies inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013227 MONDO:0021181 True congenital plasminogen activator inhibitor type 1 deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013230 MONDO:0013229 True epilepsy, hot water, 2 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013231 MONDO:0018998 True Leber congenital amaurosis 14 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013238 MONDO:0016915 True chromosome 17q23.1-q23.2 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013239 MONDO:0015149 True hereditary spastic paraplegia 41 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013240 MONDO:0018911 True maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013241 MONDO:0019793 True spinocerebellar ataxia type 30 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013242 MONDO:0018911 True maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013245 MONDO:0015159 True syndromic multisystem autoimmune disease due to ITCH deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013248 MONDO:0019391 True Fanconi anemia complementation group O Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013249 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84A hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013250 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 85 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013252 MONDO:0003847 True Warsaw breakage syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013252 MONDO:0015161 True Warsaw breakage syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013253 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 3 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013254 MONDO:0100062 True microcephaly, seizures, and developmental delay developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis-renal dysfunction-cholestasis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013256 MONDO:0003847 True chromosome 15q24 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013256 MONDO:0015159 True chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013256 MONDO:0016913 True chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013258 MONDO:0020836 True autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013261 MONDO:0018901 True dilated cardiomyopathy 1R left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013262 MONDO:0018901 True dilated cardiomyopathy 1S left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013264 MONDO:0005144 True amyotrophic lateral sclerosis type 12 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013265 MONDO:0020836 True autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013267 MONDO:0016894 True distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013271 MONDO:0016643 True frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013272 MONDO:0016912 True chromosome 14q11-q22 deletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013273 MONDO:0016949 True chromosome 16p13.3 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013274 MONDO:0019200 True retinitis pigmentosa 51 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013275 MONDO:0017688 True hemolytic anemia due to glucophosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013277 MONDO:0100062 True developmental and epileptic encephalopathy, 5 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013278 MONDO:0019313 True lymphatic malformation 3 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013279 MONDO:0019171 True long QT syndrome 13 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013281 MONDO:0005501 True COG4-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013281 MONDO:0017750 True COG4-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013282 MONDO:0002273 True alpha 1-antitrypsin deficiency plasma protein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013283 MONDO:0015517 True immunodeficiency, common variable, 3 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013284 MONDO:0015517 True immunodeficiency, common variable, 4 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013292 MONDO:0016903 True chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013298 MONDO:0015159 True chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013298 MONDO:0016967 True chromosome 17q21.31 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013300 MONDO:0015411 True commissural facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013301 MONDO:0019852 True aromatase deficiency inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013302 MONDO:0019005 True nephronophthisis 11 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013304 MONDO:0019565 True von Willebrand disease 2 hereditary von Willebrand disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013305 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 51 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013306 MONDO:0000732 True combined oxidative phosphorylation defect type 7 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013307 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013308 MONDO:0021060 True CBL-related disorder RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013310 MONDO:0018479 True congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013311 MONDO:0019287 True ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013312 MONDO:0019200 True retinitis pigmentosa 55 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013313 MONDO:0013311 True ectodermal dysplasia-cutaneous syndactyly syndrome ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013314 MONDO:0019200 True retinitis pigmentosa 56 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013315 MONDO:0019200 True retinitis pigmentosa 57 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013316 MONDO:0003004 True occult macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013320 MONDO:0016894 True chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013324 MONDO:0002013 True lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013325 MONDO:0017750 True COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013326 MONDO:0017842 True Senior-Loken syndrome 7 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013327 MONDO:0002474 True primary hyperoxaluria type 3 primary hyperoxaluria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013328 MONDO:0019200 True retinitis pigmentosa 58 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013329 MONDO:0016046 True familial clubfoot due to 17q23.1q23.2 microduplication familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013329 MONDO:0016967 True familial clubfoot due to 17q23.1q23.2 microduplication partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013334 MONDO:0003847 True cocoon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013334 MONDO:0019054 True cocoon syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013336 MONDO:0015159 True chromosome 19p13.13 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013336 MONDO:0016897 True chromosome 19p13.13 deletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013337 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, type 1C hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013338 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013339 MONDO:0016333 True dilated cardiomyopathy 1GG familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013341 MONDO:0002012 True methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013341 MONDO:0019220 True methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013342 MONDO:0002561 True hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013344 MONDO:0100246 True migraine, with or without aura, susceptibility to, 13 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013345 MONDO:0010924 True d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013348 MONDO:0015993 True cone-rod dystrophy 15 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013348 MONDO:0019200 True cone-rod dystrophy 15 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013349 MONDO:0005500 True ALG11-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013349 MONDO:0017740 True ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013350 MONDO:0018158 True mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013351 MONDO:0002602 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013351 MONDO:0003847 True infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013352 MONDO:0000508 True intellectual disability-severe speech delay-mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013352 MONDO:0003847 True intellectual disability-severe speech delay-mild dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013354 MONDO:0016387 True spastic ataxia 4 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013354 MONDO:0017847 True spastic ataxia 4 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013355 MONDO:0019403 True congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013356 MONDO:0017329 True vesicoureteral reflux 3 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013357 MONDO:0016915 True chromosome 17q11.2 deletion syndrome, 1.4Mb partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013357 MONDO:0018975 True chromosome 17q11.2 deletion syndrome, 1.4Mb neurofibromatosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013358 MONDO:0019342 True Seckel syndrome 4 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013359 MONDO:0016525 True familial hyperaldosteronism type III familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013360 MONDO:0015262 True brachyolmia, Maroteaux type brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013361 MONDO:0006025 True congenital prothrombin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013361 MONDO:0015722 True congenital prothrombin deficiency congenital vitamin K-dependent coagulation factors deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013362 MONDO:0015159 True THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013363 MONDO:0016953 True chromosome 2q31.1 duplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013364 MONDO:0019188 True Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013365 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 83 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013367 MONDO:0019171 True long QT syndrome 2 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013368 MONDO:0018234 True mammary-digital-nail syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013368 MONDO:0019054 True mammary-digital-nail syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013369 MONDO:0024573 True hypertrophic cardiomyopathy 7 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013370 MONDO:0019171 True long QT syndrome 6 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013371 MONDO:0016333 True dilated cardiomyopathy 1U familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013372 MONDO:0019171 True long QT syndrome 5 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013373 MONDO:0016333 True dilated cardiomyopathy 1V familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013375 MONDO:0001029 True Klippel-Feil syndrome 3, autosomal dominant Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013376 MONDO:0000170 True microphthalmia, isolated, with coloboma 6 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013377 MONDO:0000062 True isolated microphthalmia 7 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013379 MONDO:0018997 True Noonan syndrome 7 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013380 MONDO:0007893 True LEOPARD syndrome 3 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013381 MONDO:0018213 True neuropathy, hereditary sensory, type 1D hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013382 MONDO:0000152 True progressive demyelinating neuropathy with bilateral striatal necrosis thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013385 MONDO:0002457 True Treacher Collins syndrome 2 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013386 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 74 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013387 MONDO:0100062 True developmental and epileptic encephalopathy, 7 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013388 MONDO:0100062 True developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013390 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013390 MONDO:0016198 True autosomal recessive limb-girdle muscular dystrophy type 2Q qualitative or quantitative defects of plectin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013391 MONDO:0019046 True sterol carrier protein 2 deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013391 MONDO:0019233 True sterol carrier protein 2 deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013392 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 10 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013393 MONDO:0016906 True distal 7q11.23 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013395 MONDO:0019200 True retinitis pigmentosa 4 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013396 MONDO:0003847 True chromosome 1p32-p31 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013396 MONDO:0016883 True chromosome 1p32-p31 deletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013397 MONDO:0024516 True acne inversa, familial, 2 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013398 MONDO:0024516 True acne inversa, familial, 3 familial acne inversa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013400 MONDO:0003847 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013400 MONDO:0005495 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013400 MONDO:0020040 True Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013401 MONDO:0019064 True hereditary spastic paraplegia 51 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013402 MONDO:0019200 True retinitis pigmentosa 27 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013403 MONDO:0018677 True heterotaxy, visceral, 4, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013404 MONDO:0000351 True hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013405 MONDO:0019200 True retinitis pigmentosa 49 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013406 MONDO:0005150 True age related macular degeneration 6 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013407 MONDO:0019200 True retinitis pigmentosa 47 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013408 MONDO:0021094 True FADD-related immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013410 MONDO:0010765 True 46,XY sex reversal 6 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013412 MONDO:0024573 True hypertrophic cardiomyopathy 9 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013413 MONDO:0019200 True retinitis pigmentosa 45 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013414 MONDO:0019200 True retinitis pigmentosa 44 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013416 MONDO:0005150 True age related macular degeneration 8 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013418 MONDO:0019625 True aortic aneurysm, familial thoracic 7 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013420 MONDO:0005150 True age related macular degeneration 12 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013423 MONDO:0044209 True immunodeficiency due to MASP-2 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013424 MONDO:0016885 True 3p- syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013424 MONDO:0017393 True 3p- syndrome blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013425 MONDO:0019200 True retinitis pigmentosa 20 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013426 MONDO:0018954 True aneurysm-osteoarthritis syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013427 MONDO:0015979 True immunodeficiency 31B hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013428 MONDO:0016817 True Meier-Gorlin syndrome 2 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013429 MONDO:0019200 True retinitis pigmentosa 40 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013430 MONDO:0016817 True Meier-Gorlin syndrome 3 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013431 MONDO:0016817 True Meier-Gorlin syndrome 4 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013432 MONDO:0016817 True Meier-Gorlin syndrome 5 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013433 MONDO:0018646 True primary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013434 MONDO:0016575 True primary ciliary dyskinesia 14 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013435 MONDO:0016575 True primary ciliary dyskinesia 15 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013436 MONDO:0019200 True retinitis pigmentosa 39 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013437 MONDO:0019200 True retinitis pigmentosa 43 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013438 MONDO:0016759 True pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013439 MONDO:0018841 True congenital bile acid synthesis defect 3 congenital bile acid synthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013440 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2P muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013440 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013441 MONDO:0018770 True asphyxiating thoracic dystrophy 4 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013442 MONDO:0019005 True nephronophthisis 12 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013443 MONDO:0019342 True Seckel syndrome 5 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013444 MONDO:0019005 True nephronophthisis 9 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013446 MONDO:0018998 True Leber congenital amaurosis 6 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013447 MONDO:0019200 True retinitis pigmentosa 48 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013448 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013449 MONDO:0018998 True Leber congenital amaurosis 7 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013450 MONDO:0016293 True congenital stationary night blindness 1D congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013453 MONDO:0018998 True Leber congenital amaurosis 8 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013454 MONDO:0018998 True Leber congenital amaurosis 11 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013455 MONDO:0024573 True hypertrophic cardiomyopathy 16 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013456 MONDO:0016624 True constitutional megaloblastic anemia with severe neurologic disease inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013456 MONDO:0017313 True constitutional megaloblastic anemia with severe neurologic disease disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013457 MONDO:0018998 True Leber congenital amaurosis 15 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013458 MONDO:0015962 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013458 MONDO:0016387 True hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013464 MONDO:0016227 True episodic ataxia type 5 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013465 MONDO:0018852 True achromatopsia 4 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013466 MONDO:0000358 True orofacial cleft 13 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013467 MONDO:0044209 True immunodeficiency due to ficolin3 deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013468 MONDO:0019200 True retinitis pigmentosa 59 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013469 MONDO:0019200 True retinitis pigmentosa 38 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013470 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 7 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013471 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 61 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013472 MONDO:0018943 True fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013474 MONDO:0024573 True hypertrophic cardiomyopathy 17 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013475 MONDO:0024573 True hypertrophic cardiomyopathy 18 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013477 MONDO:0024573 True hypertrophic cardiomyopathy 20 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013478 MONDO:0020088 True PLIN1-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013479 MONDO:0016333 True dilated cardiomyopathy 1HH familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013481 MONDO:0016911 True chromosome 13q14 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013482 MONDO:0018921 True Meckel syndrome, type 8 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013484 MONDO:0005129 True cataract 36 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013485 MONDO:0019792 True spinocerebellar ataxia type 35 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013486 MONDO:0019792 True spinocerebellar ataxia type 32 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013489 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 89 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013490 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013491 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013492 MONDO:0008756 True alopecia-intellectual disability syndrome 3 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013495 MONDO:0017265 True autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013498 MONDO:0003847 True schizophrenia 15 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013498 MONDO:0005090 True schizophrenia 15 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013499 MONDO:0019391 True Fanconi anemia complementation group P Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013501 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013501 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013502 MONDO:0007101 True amyloidosis, primary localized cutaneous, 2 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013503 MONDO:0015279 True candidiasis, familial, 6 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013504 MONDO:0004983 True spermatogenic failure 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013505 MONDO:0004983 True spermatogenic failure 9 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013505 MONDO:0015746 True spermatogenic failure 9 male infertility due to globozoospermia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013506 MONDO:0005090 True schizophrenia 16 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013507 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013508 MONDO:0001384 True myopia 19, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013509 MONDO:0100172 True intellectual disability, autosomal dominant 6 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013510 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 6 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013512 MONDO:0011399 True hemoglobin H disease alpha thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013513 MONDO:0018054 True atrial fibrillation, familial, 9 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013514 MONDO:0003037 True hypotrichosis 3 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013516 MONDO:0019200 True retinitis pigmentosa 60 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013518 MONDO:0013099 True pituitary hormone deficiency, combined, 6 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013519 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013519 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013520 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013520 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013521 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013521 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013522 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013522 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013523 MONDO:0006025 True Nestor-Guillermo progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013523 MONDO:0019707 True Nestor-Guillermo progeria syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013523 MONDO:0020732 True Nestor-Guillermo progeria syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013525 MONDO:0016575 True primary ciliary dyskinesia 16 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013526 MONDO:0020074 True progressive myoclonic epilepsy type 6 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013527 MONDO:0015204 True lissencephaly 4 microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013528 MONDO:0019502 True intellectual disability, autosomal recessive 14 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013529 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013530 MONDO:0018054 True atrial fibrillation, familial, 10 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013531 MONDO:0018162 True PSPH deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013533 MONDO:0015903 True hyperlipidemia due to hepatic triglyceride lipase deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013534 MONDO:0019052 True apolipoprotein c-III deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013536 MONDO:0017754 True heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013539 MONDO:0019052 True hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013540 MONDO:0005570 True deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013542 MONDO:0016820 True Moyamoya disease 5 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013544 MONDO:0018054 True atrial fibrillation, familial, 11 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013545 MONDO:0018054 True atrial fibrillation, familial, 12 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013547 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013550 MONDO:0016108 True distal myopathy with posterior leg and anterior hand involvement autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013551 MONDO:0019064 True hereditary spastic paraplegia 47 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013552 MONDO:0019064 True hereditary spastic paraplegia 52 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013553 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013559 MONDO:0019312 True Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013560 MONDO:0019312 True Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013561 MONDO:0002081 True chondrodysplasia with joint dislocations, gPAPP type musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013563 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013563 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 1 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013563 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013565 MONDO:0019391 True Fanconi anemia complementation group G Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013566 MONDO:0019391 True Fanconi anemia complementation group L Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013567 MONDO:0006664 True atrial septal defect 3 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013569 MONDO:0018770 True short-rib thoracic dysplasia 7 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013570 MONDO:0000732 True combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013572 MONDO:0020087 True Keppen-Lubinsky syndrome hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013573 MONDO:0009032 True cranioectodermal dysplasia 3 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013574 MONDO:0019755 True cutis laxa - Marfanoid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013576 MONDO:0003778 True recurrent infections associated with rare immunoglobulin isotypes deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013578 MONDO:0015159 True DYRK1A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013578 MONDO:0100172 True DYRK1A-related intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013579 MONDO:0019242 True methylmalonate semialdehyde dehydrogenase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013580 MONDO:0019169 True pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013581 MONDO:0100172 True intellectual disability, autosomal dominant 2 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013582 MONDO:0000141 True mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013584 MONDO:0015547 True hereditary sensory neuropathy-deafness-dementia syndrome hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013584 MONDO:0024237 True hereditary sensory neuropathy-deafness-dementia syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013585 MONDO:0006037 True hydrolethalus syndrome 2 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013587 MONDO:0016527 True glycogen storage disease due to lactate dehydrogenase H-subunit deficiency glycogen storage disease due to lactate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013588 MONDO:0017312 True Perrault syndrome 3 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013589 MONDO:0005363 True focal segmental glomerulosclerosis 6 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013590 MONDO:0019354 True Stickler syndrome, type 4 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013591 MONDO:0015627 True epiphyseal dysplasia, multiple, 6 multiple epiphyseal dysplasia due to collagen 9 anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013593 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 64 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013594 MONDO:0019792 True spinocerebellar ataxia type 36 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013597 MONDO:0000009 True platelet-type bleeding disorder 14 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013598 MONDO:0003939 True myostatin-related muscle hypertrophy muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013599 MONDO:0015126 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013599 MONDO:0015279 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013599 MONDO:0019787 True autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013602 MONDO:0000448 True paragangliomas 5 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013603 MONDO:0001384 True myopia 20, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013604 MONDO:0001384 True myopia 21, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013605 MONDO:0009242 True brittle cornea syndrome 2 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013606 MONDO:0019312 True Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013608 MONDO:0018772 True Joubert syndrome 13 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013609 MONDO:0018921 True Meckel syndrome, type 10 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013610 MONDO:0019200 True retinitis pigmentosa 61 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013615 MONDO:0015338 True craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013616 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 3 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013625 MONDO:0008199 True Parkinson disease 17 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013626 MONDO:0019268 True psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013627 MONDO:0007477 True 3M syndrome 3 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013628 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 3 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013629 MONDO:0019502 True intellectual disability, autosomal recessive 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013630 MONDO:0018921 True Meckel syndrome, type 9 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013632 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 33 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013634 MONDO:0019941 True neuropathy, hereditary sensory, type 2C hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013635 MONDO:0007034 True Adams-Oliver syndrome 2 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013636 MONDO:0005388 True primary biliary cholangitis 4 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013637 MONDO:0005388 True primary biliary cholangitis 5 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013638 MONDO:0016649 True Warburg micro syndrome 3 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013641 MONDO:0016649 True Warburg micro syndrome 2 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013642 MONDO:0016296 True holoprosencephaly 11 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013644 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013645 MONDO:0020047 True autosomal recessive spinocerebellar ataxia 11 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013646 MONDO:0015159 True chromosome 8q21.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013646 MONDO:0016907 True chromosome 8q21.11 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013648 MONDO:0019289 True familial progressive hyperpigmentation hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013649 MONDO:0003037 True hypotrichosis 9 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013650 MONDO:0003037 True hypotrichosis 10 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013651 MONDO:0019502 True intellectual disability, autosomal recessive 18 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013654 MONDO:0016483 True aneurysm, intracranial berry, 11 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013657 MONDO:0100172 True intellectual disability, autosomal dominant 10 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013658 MONDO:0100172 True intellectual disability, autosomal dominant 11 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013661 MONDO:0019215 True combined malonic and methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013662 MONDO:0003749 True Barrett esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013664 MONDO:0010765 True 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013666 MONDO:0019354 True Stickler syndrome, type 5 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013668 MONDO:0016951 True tetrasomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013669 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 4 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013673 MONDO:0003847 True Wolfram-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013674 MONDO:0018307 True neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013675 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 2 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013679 MONDO:0017838 True sclerosteosis 2 sclerosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013682 MONDO:0017329 True vesicoureteral reflux 4 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013683 MONDO:0017329 True vesicoureteral reflux 5 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013684 MONDO:0017329 True vesicoureteral reflux 6 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013686 MONDO:0016108 True distal myopathy, Tateyama type autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013687 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0019289 True linear and whorled nevoid hypermelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013690 MONDO:0003847 True Pitt-Hopkins-like syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013692 MONDO:0015356 True BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013693 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 1 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013695 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013695 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 6 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013697 MONDO:0019502 True intellectual disability, autosomal recessive 29 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013698 MONDO:0015240 True arthrogryposis, distal, type 1B digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013699 MONDO:0000426 True Lynch syndrome 4 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013699 MONDO:0018630 True Lynch syndrome 4 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013700 MONDO:0002525 True pancreatic triacylglycerol lipase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013702 MONDO:0019502 True intellectual disability, autosomal recessive 27 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013703 MONDO:0019502 True intellectual disability, autosomal recessive 33 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013704 MONDO:0019502 True intellectual disability, autosomal recessive 30 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013706 MONDO:0019502 True intellectual disability, autosomal recessive 23 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013707 MONDO:0019502 True intellectual disability, autosomal recessive 24 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013710 MONDO:0000426 True Lynch syndrome 5 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013710 MONDO:0018630 True Lynch syndrome 5 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0015362 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0016108 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013712 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 5 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013714 MONDO:0044209 True mannose-binding lectin deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013716 MONDO:0007031 True aortic aneurysm, familial abdominal, 4 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013722 MONDO:0020022 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013725 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013725 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 7 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013726 MONDO:0054865 True encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013730 MONDO:0005046 True graft versus host disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013731 MONDO:0019952 True MEGF10-related myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013734 MONDO:0016073 True microphthalmia, syndromic 11 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013735 MONDO:0015159 True microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013737 MONDO:0015150 True hereditary spastic paraplegia 46 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013738 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 96 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013739 MONDO:0018827 True chilblain lupus 2 familial chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013740 MONDO:0015338 True lethal occipital encephalocele-skeletal dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013741 MONDO:0005115 True familial temporal lobe epilepsy 5 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013745 MONDO:0018772 True Joubert syndrome 14 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013746 MONDO:0002070 True ventricular septal defect 1 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013747 MONDO:0020290 True atrioventricular septal defect 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013748 MONDO:0002070 True ventricular septal defect 2 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013749 MONDO:0002070 True ventricular septal defect 3 ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013750 MONDO:0006664 True atrial septal defect 8 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013751 MONDO:0019571 True cutis laxa, autosomal dominant 2 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013752 MONDO:0004933 True hypoplastic left heart syndrome 2 hypoplastic left heart syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013753 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013754 MONDO:0019572 True cutis laxa, autosomal recessive, type 1B autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013755 MONDO:0017569 True PYCR1-related de Barsy syndrome de Barsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013755 MONDO:0100237 True PYCR1-related de Barsy syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013756 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 2 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013757 MONDO:0000045 True congenital nongoitrous hypothryoidism 6 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013758 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate E autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013759 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 8 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013760 MONDO:0018117 True congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013761 MONDO:0000152 True childhood encephalopathy due to thiamine pyrophosphokinase deficiency thiamine-responsive dysfunction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013762 MONDO:0018424 True lipoic acid synthetase deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013762 MONDO:0019169 True lipoic acid synthetase deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013763 MONDO:0018772 True Joubert syndrome 15 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013764 MONDO:0018772 True Joubert syndrome 16 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013766 MONDO:0018768 True familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013767 MONDO:0017979 True autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013768 MONDO:0018870 True arterial calcification, generalized, of infancy, 2 arterial calcification of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013769 MONDO:0020290 True atrioventricular septal defect 5 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013770 MONDO:0006664 True atrial septal defect 9 atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013773 MONDO:0020496 True porencephaly 2 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013774 MONDO:0018065 True trigonocephaly 2 isolated trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013775 MONDO:0100240 True thrombomodulin-related bleeding disorder inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013776 MONDO:0017847 True spastic ataxia 5 autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013776 MONDO:0018158 True spastic ataxia 5 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013777 MONDO:0019162 True pseudohypoaldosteronism type 2B pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013778 MONDO:0019162 True pseudohypoaldosteronism type 2C pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013780 MONDO:0019200 True retinitis pigmentosa 63 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013781 MONDO:0019162 True pseudohypoaldosteronism type 2D pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013782 MONDO:0019162 True pseudohypoaldosteronism type 2E pseudohypoaldosteronism type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013783 MONDO:0000170 True microphthalmia, isolated, with coloboma 7 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013785 MONDO:0019502 True intellectual disability, autosomal recessive 34 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013786 MONDO:0015993 True cone-rod dystrophy 16 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013786 MONDO:0019200 True cone-rod dystrophy 16 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013788 MONDO:0016485 True Usher syndrome type 3B Usher syndrome type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013789 MONDO:0005500 True DDOST-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013789 MONDO:0017740 True DDOST-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013790 MONDO:0016558 True mirror movements 2 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013794 MONDO:0019111 True thrombocythemia 3 familial thrombocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013795 MONDO:0016068 True fibrochondrogenesis 2 fibrochondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013796 MONDO:0016967 True chromosome 17q12 duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013797 MONDO:0016915 True chromosome 17q12 deletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013800 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013802 MONDO:0016790 True infantile cerebellar-retinal degeneration tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013802 MONDO:0019118 True infantile cerebellar-retinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013802 MONDO:0024237 True infantile cerebellar-retinal degeneration inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013806 MONDO:0015356 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013806 MONDO:0019293 True familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013807 MONDO:0016293 True congenital stationary night blindness 1E congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013808 MONDO:0015356 True Maffucci syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0019293 True Maffucci syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013808 MONDO:0019716 True Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0019755 True Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013810 MONDO:0017750 True COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013813 MONDO:0000476 True dystonia 21 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013815 MONDO:0031615 True bent bone dysplasia syndrome 1 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013817 MONDO:0005081 True preeclampsia/eclampsia 5 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013818 MONDO:0009105 True trichohepatoenteric syndrome 2 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013819 MONDO:0000426 True intellectual disability, autosomal dominant 14 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013819 MONDO:0015452 True intellectual disability, autosomal dominant 14 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013820 MONDO:0000426 True intellectual disability, autosomal dominant 15 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013820 MONDO:0015452 True intellectual disability, autosomal dominant 15 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013821 MONDO:0000426 True intellectual disability, autosomal dominant 16 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013821 MONDO:0015452 True intellectual disability, autosomal dominant 16 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013822 MONDO:0019797 True acrodysostosis 2 with or without hormone resistance acrodysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013823 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 4B autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013824 MONDO:0018772 True Joubert syndrome 17 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013825 MONDO:0000824 True congenital diarrhea 6 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013826 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 86 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013827 MONDO:0021022 True hyperekplexia 3 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013828 MONDO:0021022 True hyperekplexia 2 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013829 MONDO:0015797 True UV-sensitive syndrome 2 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013830 MONDO:0015486 True keratoconus 5 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013831 MONDO:0015486 True keratoconus 6 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013832 MONDO:0015486 True keratoconus 8 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013833 MONDO:0015486 True keratoconus 7 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013834 MONDO:0015797 True UV-sensitive syndrome 3 UV-sensitive syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013835 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013836 MONDO:0018151 True familial steroid-resistant nephrotic syndrome with sensorineural deafness coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013837 MONDO:0018151 True deafness-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013838 MONDO:0018151 True coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013839 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 6 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013840 MONDO:0018151 True encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013841 MONDO:0000723 True stuttering, familial persistent, 3 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013842 MONDO:0000193 True cortisone reductase deficiency 2 cortisone reductase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013844 MONDO:0000723 True stuttering, familial persistent, 4 stutter disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013845 MONDO:0000107 True auriculocondylar syndrome 2 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013847 MONDO:0016949 True chromosome 16p11.2 duplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013848 MONDO:0016333 True dilated cardiomyopathy 2B familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013849 MONDO:0016660 True microcephaly 8, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013851 MONDO:0000159 True autosomal dominant aplasia and myelodysplasia bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013851 MONDO:0001713 True autosomal dominant aplasia and myelodysplasia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013852 MONDO:0024573 True hypertrophic cardiomyopathy 21 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013853 MONDO:0016396 True pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013854 MONDO:0016575 True primary ciliary dyskinesia 17 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013858 MONDO:0020022 True pontine tegmental cap dysplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013862 MONDO:0015517 True immunodeficiency, common variable, 7 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013863 MONDO:0015517 True combined immunodeficiency due to LRBA deficiency common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013864 MONDO:0016033 True Cornelia de Lange syndrome 4 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013865 MONDO:0000732 True mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013867 MONDO:0008891 True brown-Vialetto-van Laere syndrome 2 riboflavin transporter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013869 MONDO:0019236 True adenine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013870 MONDO:0005501 True TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013870 MONDO:0017740 True TMEM165-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013871 MONDO:0019342 True Seckel syndrome 6 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013873 MONDO:0002254 True IMAGe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013874 MONDO:0008733 True glucocorticoid deficiency 4 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013875 MONDO:0004069 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013875 MONDO:0017359 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013875 MONDO:0018117 True 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013877 MONDO:0004069 True mitochondrial pyruvate carrier deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013877 MONDO:0006025 True mitochondrial pyruvate carrier deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013877 MONDO:0016789 True mitochondrial pyruvate carrier deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013878 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013879 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013881 MONDO:0017612 True pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013882 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 2 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013883 MONDO:0000182 True congenital myasthenic syndrome 13 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013885 MONDO:0003847 True Malan overgrowth syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013885 MONDO:0019716 True Malan overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013886 MONDO:0019792 True cerebellar dysfunction with variable cognitive and behavioral abnormalities autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013887 MONDO:0018677 True heterotaxy, visceral, 6, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013888 MONDO:0003233 True tremor, hereditary essential, 4 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013890 MONDO:0018947 True congenital myopathy with internal nuclei and atypical cores centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013891 MONDO:0005144 True amyotrophic lateral sclerosis type 18 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013892 MONDO:0018013 True C3 glomerulonephritis non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013893 MONDO:0007462 True multiple sclerosis, susceptibility to, 5 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013895 MONDO:0007034 True Adams-Oliver syndrome 3 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013896 MONDO:0018772 True Joubert syndrome 18 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013897 MONDO:0018954 True Loeys-Dietz syndrome 4 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013898 MONDO:0001085 True karyomegalic interstitial nephritis interstitial nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013899 MONDO:0018096 True Weill-Marchesani syndrome 3 Weill-Marchesani syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013900 MONDO:0016241 True alternating hemiplegia of childhood 2 alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013901 MONDO:0004983 True spermatogenic failure 10 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013902 MONDO:0007194 True aortic valve disease 2 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013903 MONDO:0005712 True nystagmus 7, congenital, autosomal dominant congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013904 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0013905 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013907 MONDO:0017091 True bilateral generalized polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013912 MONDO:0018555 True hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013914 MONDO:0018555 True hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013915 MONDO:0018555 True hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013916 MONDO:0019005 True nephronophthisis 14 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013917 MONDO:0019005 True nephronophthisis 15 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013918 MONDO:0017806 True distal tetrasomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013922 MONDO:0019342 True Seckel syndrome 7 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013923 MONDO:0016660 True microcephaly 9, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013924 MONDO:0019019 True osteogenesis imperfecta type 13 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013925 MONDO:0016826 True methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013928 MONDO:0000477 True dystonia 23 focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013928 MONDO:0015990 True dystonia 23 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013929 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 98 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013934 MONDO:0015131 True combined immunodeficiency due to STK4 deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013935 MONDO:0010168 True Usher syndrome type 1J Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013940 MONDO:0016575 True primary ciliary dyskinesia 18 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013944 MONDO:0019751 True autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013947 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal recessive 5 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013947 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 5 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013953 MONDO:0003778 True immunodeficiency 28 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013954 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013955 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013956 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013957 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013959 MONDO:0018995 True Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013962 MONDO:0015150 True hereditary spastic paraplegia 53 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013963 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 93 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013964 MONDO:0015253 True Diamond-Blackfan anemia 11 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013965 MONDO:0017436 True lethal congenital contracture syndrome 4 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013966 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013968 MONDO:0005500 True PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013968 MONDO:0016333 True PGM1-congenital disorder of glycosylation familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013968 MONDO:0017740 True PGM1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013969 MONDO:0000732 True combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013970 MONDO:0006025 True branched-chain keto acid dehydrogenase kinase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013970 MONDO:0019242 True branched-chain keto acid dehydrogenase kinase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013971 MONDO:0000732 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013971 MONDO:0019046 True leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013972 MONDO:0017312 True Perrault syndrome 2 Perrault syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013973 MONDO:0019287 True ectodermal dysplasia 5, hair/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013974 MONDO:0019071 True ectodermal dysplasia 6, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013975 MONDO:0019071 True ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013976 MONDO:0019071 True ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013977 MONDO:0000732 True combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013978 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 70 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013979 MONDO:0016575 True primary ciliary dyskinesia 19 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013984 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 84B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013985 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 18B hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013986 MONDO:0000732 True combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013987 MONDO:0000732 True combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013989 MONDO:0100062 True developmental and epileptic encephalopathy, 14 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013990 MONDO:0020135 True pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013991 MONDO:0015770 True obesity due to congenital leptin deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013991 MONDO:0019182 True obesity due to congenital leptin deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013992 MONDO:0015770 True obesity due to leptin receptor gene deficiency congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013992 MONDO:0019182 True obesity due to leptin receptor gene deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013993 MONDO:0020135 True pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013994 MONDO:0018772 True Joubert syndrome 20 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013995 MONDO:0100429 True cholestasis, intrahepatic, of pregnancy, 3 intrahepatic cholestasis of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013997 MONDO:0018363 True focal facial dermal dysplasia type IV focal facial dermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013998 MONDO:0019012 True MEGF8-related Carpenter syndrome Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014001 MONDO:0010168 True Usher syndrome type 1K Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014002 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 5 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014002 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014003 MONDO:0100062 True developmental and epileptic encephalopathy, 15 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014004 MONDO:0008947 True basal ganglia calcification, idiopathic, 4 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014005 MONDO:0002350 True immunoglobulin-mediated membranoproliferative glomerulonephritis familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014005 MONDO:0018904 True immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014006 MONDO:0015159 True Schuurs-Hoeijmakers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014006 MONDO:0100172 True Schuurs-Hoeijmakers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014007 MONDO:0018866 True Aicardi-Goutieres syndrome 6 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014012 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014013 MONDO:0017757 True maternal riboflavin deficiency disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014016 MONDO:0015150 True hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014017 MONDO:0020836 True intellectual developmental disorder with autism and macrocephaly autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014018 MONDO:0015150 True hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014019 MONDO:0015990 True dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014020 MONDO:0015150 True hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014020 MONDO:0016387 True hereditary spastic paraplegia 55 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014021 MONDO:0018319 True familial episodic pain syndrome with predominantly upper body involvement familial episodic pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014022 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014023 MONDO:0005500 True congenital muscular dystrophy with intellectual disability and severe epilepsy congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014023 MONDO:0017749 True congenital muscular dystrophy with intellectual disability and severe epilepsy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014023 MONDO:0018276 True congenital muscular dystrophy with intellectual disability and severe epilepsy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014024 MONDO:0015150 True hereditary spastic paraplegia 43 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014026 MONDO:0016293 True congenital stationary night blindness 1F congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014027 MONDO:0003037 True hypotrichosis 11 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014028 MONDO:0019942 True distal arthrogryposis type 5D distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014030 MONDO:0016575 True primary ciliary dyskinesia 20 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014032 MONDO:0021004 True brachydactyly type A1C brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014033 MONDO:0000478 True dystonia 25 multifocal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014033 MONDO:0015990 True dystonia 25 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014034 MONDO:0015159 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014034 MONDO:0100172 True severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014035 MONDO:0015159 True severe intellectual disability-progressive spastic diplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014036 MONDO:0004975 True Alzheimer disease 17 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014041 MONDO:0020836 True autism, susceptibility to, 19 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014047 MONDO:0016063 True Cowden syndrome 5 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014048 MONDO:0016063 True Cowden syndrome 6 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014049 MONDO:0000463 True urofacial syndrome 2 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014050 MONDO:0000062 True isolated microphthalmia 8 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014051 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014054 MONDO:0016537 True lymphoproliferative syndrome 2 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014055 MONDO:0000160 True epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014056 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 9 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014057 MONDO:0009563 True maple syrup urine disease, mild variant maple syrup urine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014059 MONDO:0000170 True microphthalmia, isolated, with coloboma 9 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014060 MONDO:0019118 True progressive retinal dystrophy due to retinol transport defect inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014062 MONDO:0000090 True mitochondrial DNA deletion syndrome with progressive myopathy progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014063 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 2 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014064 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 3 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014065 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 4 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014066 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 5 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014067 MONDO:0015159 True short ulna-dysmorphism-hypotonia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014068 MONDO:0015993 True cone-rod dystrophy 17 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014069 MONDO:0019054 True syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014070 MONDO:0018910 True oculocutaneous albinism type 7 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014071 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014072 MONDO:0016001 True D,L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014073 MONDO:0016333 True dilated cardiomyopathy 1II familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014074 MONDO:0019548 True Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014076 MONDO:0006025 True dyskeratosis congenita, autosomal recessive 5 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014077 MONDO:0018869 True cobblestone lissencephaly without muscular or ocular involvement cobblestone lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014079 MONDO:0100170 True restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014080 MONDO:0017198 True osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014081 MONDO:0044201 True severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014082 MONDO:0021094 True cryptosporidiosis-chronic cholangitis-liver disease syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014084 MONDO:0015244 True ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014085 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 2 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014089 MONDO:0017666 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014089 MONDO:0020212 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014094 MONDO:0000104 True severe congenital hypochromic anemia with ringed sideroblasts anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014094 MONDO:0016624 True severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014094 MONDO:0020099 True severe congenital hypochromic anemia with ringed sideroblasts inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014095 MONDO:0016333 True dilated cardiomyopathy 1JJ familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014098 MONDO:0020088 True CIDEC-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014100 MONDO:0016333 True dilated cardiomyopathy 1KK familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014100 MONDO:0016340 True dilated cardiomyopathy 1KK familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014100 MONDO:0024573 True dilated cardiomyopathy 1KK familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014101 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014104 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014114 MONDO:0015280 True cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014115 MONDO:0019046 True hypomyelination with brain stem and spinal cord involvement and leg spasticity leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014116 MONDO:0000904 True complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014117 MONDO:0018995 True Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014119 MONDO:0003847 True intellectual disability-strabismus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014120 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014121 MONDO:0018190 True autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014122 MONDO:0016824 True myofibromatosis, infantile, 2 infantile myofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014123 MONDO:0016575 True primary ciliary dyskinesia 21 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014124 MONDO:0007034 True Adams-Oliver syndrome 4 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014126 MONDO:0017312 True Perrault syndrome 4 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014131 MONDO:0017666 True hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014134 MONDO:0017148 True pulmonary hypertension, primary, 2 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014135 MONDO:0017148 True pulmonary hypertension, primary, 3 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014136 MONDO:0017148 True pulmonary hypertension, primary, 4 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014137 MONDO:0019165 True precocious puberty, central, 2 central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014140 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014141 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014142 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2T muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014142 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014143 MONDO:0018997 True Noonan syndrome 8 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014144 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014145 MONDO:0018998 True Leber congenital amaurosis 17 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014146 MONDO:0018543 True autosomal dominant hypocalcemia 2 autosomal dominant hypocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014149 MONDO:0017436 True fetal akinesia-cerebral and retinal hemorrhage syndrome lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014149 MONDO:0019952 True fetal akinesia-cerebral and retinal hemorrhage syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014152 MONDO:0018901 True left ventricular noncompaction 8 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014153 MONDO:0015993 True cone-rod dystrophy 18 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014154 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate C autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014155 MONDO:0018054 True atrial fibrillation, familial, 13 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014156 MONDO:0018054 True atrial fibrillation, familial, 14 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014157 MONDO:0019303 True mandibular hypoplasia-deafness-progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014158 MONDO:0019005 True nephronophthisis 16 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014159 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 14 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014160 MONDO:0018814 True TCR-alpha-beta-positive T-cell deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014161 MONDO:0017329 True vesicoureteral reflux 7 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014162 MONDO:0000732 True infantile hypertrophic cardiomyopathy due to MRPL44 deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014163 MONDO:0018901 True left ventricular noncompaction 10 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014164 MONDO:0018921 True Meckel syndrome, type 11 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0015327 True multiple congenital anomalies-hypotonia-seizures syndrome 3 developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0017748 True multiple congenital anomalies-hypotonia-seizures syndrome 3 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014165 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014166 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014167 MONDO:0000160 True epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014168 MONDO:0044200 True severe combined immunodeficiency due to CORO1A deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014169 MONDO:0000736 True dyschromatosis universalis hereditaria 3 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014170 MONDO:0000904 True complex cortical dysplasia with other brain malformations 3 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014171 MONDO:0000904 True complex cortical dysplasia with other brain malformations 4 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014172 MONDO:0004983 True spermatogenic failure 12 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014173 MONDO:0016660 True microcephaly 11, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014174 MONDO:0017417 True renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014175 MONDO:0018158 True mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014176 MONDO:0015159 True hypotonia, infantile, with psychomotor retardation and characteristic facies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014176 MONDO:0024237 True hypotonia, infantile, with psychomotor retardation and characteristic facies inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014177 MONDO:0001384 True myopia 22, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014178 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014179 MONDO:0000507 True inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014180 MONDO:0017610 True epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014181 MONDO:0005144 True amyotrophic lateral sclerosis type 20 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014182 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 88 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014183 MONDO:0001384 True myopia 23, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014184 MONDO:0000724 True specific language impairment 5 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014185 MONDO:0016902 True chromosome 3q13.31 deletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014186 MONDO:0019200 True retinitis pigmentosa with or without situs inversus retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014187 MONDO:0019625 True aortic aneurysm, familial thoracic 8 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014190 MONDO:0000732 True combined oxidative phosphorylation defect type 17 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014191 MONDO:0017990 True catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014192 MONDO:0016575 True primary ciliary dyskinesia 22 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014193 MONDO:0016575 True primary ciliary dyskinesia 23 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014194 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 6 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014196 MONDO:0015159 True Hartsfield-Bixler-Demyer syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014197 MONDO:0021094 True combined immunodeficiency due to MALT1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014198 MONDO:0016796 True mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014199 MONDO:0100062 True developmental and epileptic encephalopathy, 17 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014200 MONDO:0016525 True aldosterone-producing adenoma with seizures and neurological abnormalities familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014201 MONDO:0100062 True developmental and epileptic encephalopathy, 18 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014202 MONDO:0016575 True primary ciliary dyskinesia 24 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014203 MONDO:0016575 True primary ciliary dyskinesia 25 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014204 MONDO:0008947 True basal ganglia calcification, idiopathic, 5 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014205 MONDO:0003847 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014205 MONDO:0015159 True severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014207 MONDO:0005150 True age related macular degeneration 14 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014208 MONDO:0018993 True Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014209 MONDO:0019064 True early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014210 MONDO:0003847 True intellectual disability-hypotonia-spasticity-sleep disorder syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014211 MONDO:0016575 True primary ciliary dyskinesia 26 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014212 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type C sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014213 MONDO:0015159 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014213 MONDO:0100172 True intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014214 MONDO:0018770 True short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014215 MONDO:0016575 True primary ciliary dyskinesia 27 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014216 MONDO:0016575 True primary ciliary dyskinesia 28 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014217 MONDO:0019180 True telangiectasia, hereditary hemorrhagic, type 5 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014219 MONDO:0006025 True alacrima, achalasia, and intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014221 MONDO:0002908 True triosephosphate isomerase deficiency glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014221 MONDO:0017688 True triosephosphate isomerase deficiency disorder of glycolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014223 MONDO:0005144 True amyotrophic lateral sclerosis type 19 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014225 MONDO:0006507 True hemochromatosis type 5 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014226 MONDO:0021094 True idiopathic CD4 lymphocytopenia immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014228 MONDO:0005321 True corneal dystrophy, Fuchs endothelial, 8 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014229 MONDO:0016073 True microphthalmia, syndromic 12 syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014230 MONDO:0015279 True candidiasis, familial, 8 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014233 MONDO:0017279 True early-onset Parkinson disease 20 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014234 MONDO:0000118 True reticulate acropigmentation of Kitamura reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014234 MONDO:0019289 True reticulate acropigmentation of Kitamura hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014237 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 76 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014238 MONDO:0003847 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014238 MONDO:0015159 True severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014240 MONDO:0020341 True periventricular nodular heterotopia 6 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014242 MONDO:0017813 True van Maldergem syndrome 2 van Maldergem syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014244 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014245 MONDO:0015253 True Diamond-Blackfan anemia 12 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014246 MONDO:0018319 True episodic pain syndrome, familial, 2 familial episodic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014247 MONDO:0018319 True familial episodic pain syndrome with predominantly lower limb involvement familial episodic pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014248 MONDO:0015327 True autism spectrum disorder - epilepsy - arthrogryposis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014248 MONDO:0017740 True autism spectrum disorder - epilepsy - arthrogryposis syndrome disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014248 MONDO:0019942 True autism spectrum disorder - epilepsy - arthrogryposis syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014252 MONDO:0017774 True familial hypobetalipoproteinemia 1 hypobetalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014254 MONDO:0008163 True otofaciocervical syndrome 2 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014256 MONDO:0019200 True retinitis pigmentosa 67 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014258 MONDO:0019052 True congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014260 MONDO:0015517 True immunodeficiency, common variable, 10 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014261 MONDO:0000732 True growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014262 MONDO:0018954 True Rienhoff syndrome Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014263 MONDO:0015159 True 8q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014263 MONDO:0016907 True 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014264 MONDO:0005349 True otosclerosis 10 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014265 MONDO:0004975 True Alzheimer disease 18 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014267 MONDO:0044201 True severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014268 MONDO:0021094 True combined immunodeficiency due to OX40 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014270 MONDO:0017740 True STT3A-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014271 MONDO:0005500 True STT3B-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014271 MONDO:0017740 True STT3B-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014272 MONDO:0017666 True palmoplantar keratoderma, Nagashima type diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014273 MONDO:0003847 True microcephaly-thin corpus callosum-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014273 MONDO:0015159 True microcephaly-thin corpus callosum-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014274 MONDO:0005570 True L-ferritin deficiency hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014276 MONDO:0021094 True combined immunodeficiency due to CD3gamma deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014277 MONDO:0000158 True developmental dysplasia of the hip 2 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014278 MONDO:0031520 True immunodeficiency 18 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014280 MONDO:0031520 True immunodeficiency 19 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014282 MONDO:0015149 True hereditary spastic paraplegia 72 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014283 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 56 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014284 MONDO:0018770 True short-rib thoracic dysplasia 10 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014285 MONDO:0020337 True congenital dyserythropoietic anemia type type 1B congenital dyserythropoietic anemia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014286 MONDO:0018213 True neuropathy, hereditary sensory, type 1F hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014287 MONDO:0018770 True short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014288 MONDO:0018772 True Joubert syndrome 21 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014289 MONDO:0003847 True macrocephaly-developmental delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014289 MONDO:0015159 True macrocephaly-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014290 MONDO:0018307 True neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014291 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 54 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014292 MONDO:0019046 True leukoencephalopathy with mild cerebellar ataxia and white matter edema leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014293 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 58 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014294 MONDO:0016913 True chromosome 15q11.2 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014295 MONDO:0015150 True hereditary spastic paraplegia 57 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014298 MONDO:0015159 True chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014299 MONDO:0008075 True schwannomatosis 2 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014300 MONDO:0005336 True proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014302 MONDO:0015149 True hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014303 MONDO:0015150 True hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014304 MONDO:0015150 True hereditary spastic paraplegia 61 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014305 MONDO:0015150 True hereditary spastic paraplegia 63 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014306 MONDO:0018882 True vasculitis due to ADA2 deficiency vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014308 MONDO:0005115 True familial temporal lobe epilepsy 6 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014309 MONDO:0019182 True obesity due to CEP19 deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014310 MONDO:0016382 True hereditary sclerosing poikiloderma with tendon and pulmonary involvement hereditary poikiloderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014311 MONDO:0018446 True autosomal recessive spinocerebellar ataxia 15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014312 MONDO:0000107 True auriculocondylar syndrome 3 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014313 MONDO:0003778 True autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014314 MONDO:0018075 True sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014316 MONDO:0004975 True Alzheimer disease 19 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014317 MONDO:0000159 True pancytopenia-developmental delay syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014317 MONDO:0001713 True pancytopenia-developmental delay syndrome inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014318 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 4 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014319 MONDO:0018470 True renal hypodysplasia/aplasia 2 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014320 MONDO:0003847 True Bosch-Boonstra-Schaaf optic atrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014321 MONDO:0019852 True premature ovarian failure 8 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014322 MONDO:0019852 True premature ovarian failure 9 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014323 MONDO:0019200 True retinitis pigmentosa 68 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014324 MONDO:0016471 True pachyonychia congenita 3 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014325 MONDO:0016471 True pachyonychia congenita 4 pachyonychia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014327 MONDO:0019272 True palmoplantar keratoderma, nonepidermolytic, focal or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014328 MONDO:0100062 True developmental and epileptic encephalopathy, 19 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014331 MONDO:0016820 True Moyamoya disease with early-onset achalasia Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014332 MONDO:0019225 True hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014334 MONDO:0017855 True severe combined immunodeficiency due to LCK deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014336 MONDO:0000426 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014336 MONDO:0015159 True intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014337 MONDO:0000904 True complex cortical dysplasia with other brain malformations 5 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014338 MONDO:0015517 True IL21-related infantile inflammatory bowel disease common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014339 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 16 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014340 MONDO:0018054 True atrial fibrillation, familial, 15 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014341 MONDO:0000904 True complex cortical dysplasia with other brain malformations 6 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014342 MONDO:0014769 True female infertility due to zona pellucida defect inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014343 MONDO:0015426 True Desbuquois dysplasia 2 Desbuquois dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014345 MONDO:0019200 True retinitis pigmentosa 69 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014346 MONDO:0015748 True white sponge nevus 2 hereditary mucosal leukokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014349 MONDO:0020135 True pontocerebellar hypoplasia type 10 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014350 MONDO:0019342 True Seckel syndrome 8 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014351 MONDO:0020135 True pontocerebellar hypoplasia type 9 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014353 MONDO:0017749 True immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014353 MONDO:0021094 True immunodeficiency 23 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014356 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014357 MONDO:0100172 True intellectual disability, autosomal dominant 24 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014359 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 4 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014361 MONDO:0015159 True autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014361 MONDO:0100172 True autism spectrum disorder due to AUTS2 deficiency intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014364 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 8 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014365 MONDO:0004983 True spermatogenic failure 13 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014366 MONDO:0004983 True spermatogenic failure 14 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014367 MONDO:0018866 True Aicardi-Goutieres syndrome 7 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014368 MONDO:0024462 True tumor predisposition syndrome 3 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014369 MONDO:0000426 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014369 MONDO:0002254 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014369 MONDO:0018234 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014369 MONDO:0018762 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014369 MONDO:0019054 True postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014370 MONDO:0020135 True pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014371 MONDO:0015159 True developmental and epileptic encephalopathy, 23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014371 MONDO:0100062 True developmental and epileptic encephalopathy, 23 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014372 MONDO:0015993 True cone-rod dystrophy 19 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014374 MONDO:0019005 True nephronophthisis 18 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014375 MONDO:0000824 True congenital diarrhea 7 with exudative enteropathy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014376 MONDO:0000426 True intellectual disability, autosomal dominant 27 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014376 MONDO:0015452 True intellectual disability, autosomal dominant 27 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014378 MONDO:0016575 True primary ciliary dyskinesia 29 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014379 MONDO:0015159 True ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014380 MONDO:0016073 True colobomatous microphthalmia-rhizomelic dysplasia syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014380 MONDO:0018230 True colobomatous microphthalmia-rhizomelic dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014381 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 4 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014382 MONDO:0015159 True Tatton-Brown-Rahman overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014383 MONDO:0008051 True myopathy, tubular aggregate, 2 tubular aggregate myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014384 MONDO:0003037 True hypotrichosis 12 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014386 MONDO:0000009 True platelet-type bleeding disorder 18 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014386 MONDO:0021181 True platelet-type bleeding disorder 18 inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014388 MONDO:0000358 True familial median cleft of the upper and lower lips orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014389 MONDO:0000192 True polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014389 MONDO:0002412 True polyglucosan body myopathy 1 with or without immunodeficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014390 MONDO:0003037 True hypotrichosis 13 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014391 MONDO:0044201 True severe combined immunodeficiency due to CTPS1 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014393 MONDO:0019313 True lymphatic malformation 4 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014394 MONDO:0015253 True Diamond-Blackfan anemia 13 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014395 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014395 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014396 MONDO:0016333 True dilated cardiomyopathy 1NN familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014397 MONDO:0000732 True combined oxidative phosphorylation defect type 20 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014398 MONDO:0000732 True combined oxidative phosphorylation defect type 21 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014399 MONDO:0011457 True ataxia-telangiectasia-like disorder 2 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014400 MONDO:0019200 True retinitis pigmentosa 70 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014401 MONDO:0018230 True tall stature-scoliosis-macrodactyly of the great toes syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014402 MONDO:0020087 True severe neurodegenerative syndrome with lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014402 MONDO:0024237 True severe neurodegenerative syndrome with lipodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014403 MONDO:0019824 True short stature due to GHSR deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014405 MONDO:0019751 True STING-associated vasculopathy with onset in infancy autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014406 MONDO:0009832 True pancreatic agenesis 2 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014407 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014408 MONDO:0019375 True megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014409 MONDO:0019502 True intellectual disability, autosomal recessive 44 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014410 MONDO:0019792 True spinocerebellar ataxia type 37 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014411 MONDO:0001384 True myopia 24, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014412 MONDO:0001336 True hyperlipoproteinemia, type 1D familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014412 MONDO:0006025 True hyperlipoproteinemia, type 1D autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014412 MONDO:0018637 True hyperlipoproteinemia, type 1D familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014413 MONDO:0015159 True orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014414 MONDO:0000213 True STAT3-related early-onset multisystem autoimmune disease autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014416 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014417 MONDO:0018117 True spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014417 MONDO:0019793 True spinocerebellar ataxia type 38 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014418 MONDO:0015705 True myopathy, centronuclear, 5 autosomal recessive centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014419 MONDO:0020022 True ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014420 MONDO:0015892 True short stature due to primary acid-labile subunit deficiency growth hormone insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014421 MONDO:0015898 True glucocorticoid resistance adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014422 MONDO:0017329 True vesicoureteral reflux 8 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014423 MONDO:0017855 True severe combined immunodeficiency due to DNA-PKcs deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014426 MONDO:0005514 True nanophthalmos 4 nanophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014427 MONDO:0015993 True cone-rod dystrophy 20 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014428 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 102 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014429 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014430 MONDO:0019502 True intellectual disability, autosomal recessive 45 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014431 MONDO:0020088 True LIPE-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014432 MONDO:0015229 True Bardet-Biedl syndrome 2 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014433 MONDO:0015229 True Bardet-Biedl syndrome 4 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014434 MONDO:0015229 True Bardet-Biedl syndrome 5 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014435 MONDO:0015229 True Bardet-Biedl syndrome 7 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014436 MONDO:0015229 True Bardet-Biedl syndrome 8 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014437 MONDO:0015229 True Bardet-Biedl syndrome 9 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014438 MONDO:0015229 True Bardet-Biedl syndrome 10 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014439 MONDO:0015229 True Bardet-Biedl syndrome 11 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014440 MONDO:0015229 True Bardet-Biedl syndrome 12 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014441 MONDO:0015229 True Bardet-Biedl syndrome 13 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014442 MONDO:0015229 True Bardet-Biedl syndrome 14 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014443 MONDO:0015229 True Bardet-Biedl syndrome 15 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014444 MONDO:0015229 True Bardet-Biedl syndrome 16 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014445 MONDO:0015229 True Bardet-Biedl syndrome 17 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014446 MONDO:0015229 True Bardet-Biedl syndrome 18 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014447 MONDO:0015229 True Bardet-Biedl syndrome 19 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014450 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 2 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014451 MONDO:0005363 True focal segmental glomerulosclerosis 7 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014452 MONDO:0018060 True familial dysfibrinogenemia congenital fibrinogen deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014454 MONDO:0016256 True Hennekam lymphangiectasia-lymphedema syndrome 2 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0015514 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0016387 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014455 MONDO:0020127 True cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014456 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to JAGN1 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014457 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 5 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014458 MONDO:0100238 True Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014459 MONDO:0007034 True Adams-Oliver syndrome 5 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0017672 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0019287 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014460 MONDO:0019289 True nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014462 MONDO:0005363 True focal segmental glomerulosclerosis 8 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014464 MONDO:0018117 True progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014464 MONDO:0019046 True progressive encephalopathy with leukodystrophy due to DECR deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014465 MONDO:0016575 True primary ciliary dyskinesia 30 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014466 MONDO:0000179 True Neu-Laxova syndrome 2 Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014467 MONDO:0016387 True Charcot-Marie-Tooth disease recessive intermediate D mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014467 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate D autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014468 MONDO:0018940 True congenital myasthenic syndrome 7 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014469 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 103 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014470 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 65 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014472 MONDO:0017953 True periodic fever-infantile enterocolitis-autoinflammatory syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014473 MONDO:0016660 True microcephaly 13, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014474 MONDO:0000173 True autosomal recessive limb-girdle muscular dystrophy type 2U muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014474 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014475 MONDO:0019792 True spinocerebellar ataxia type 40 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014478 MONDO:0016558 True mirror movements 3 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014481 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 2 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014482 MONDO:0000426 True intellectual disability, autosomal dominant 29 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014483 MONDO:0019118 True retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014485 MONDO:0016396 True pontocerebellar hypoplasia, type 1C pontocerebellar hypoplasia type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014486 MONDO:0000426 True intellectual disability, autosomal dominant 30 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014487 MONDO:0020099 True congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014489 MONDO:0000173 True limb-girdle muscular dystrophy due to POMK deficiency muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014489 MONDO:0015152 True limb-girdle muscular dystrophy due to POMK deficiency autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014489 MONDO:0016155 True limb-girdle muscular dystrophy due to POMK deficiency qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014490 MONDO:0019223 True ketoacidosis due to monocarboxylate transporter-1 deficiency disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014491 MONDO:0003778 True immunodeficiency 37 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014492 MONDO:0017672 True wooly hair-palmoplantar keratoderma syndrome focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014496 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 9 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014497 MONDO:0015770 True polyendocrine-polyneuropathy syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014498 MONDO:0018768 True familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014499 MONDO:0019502 True intellectual disability, autosomal recessive 46 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014502 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014503 MONDO:0020043 True autosomal recessive spinocerebellar ataxia 17 autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014504 MONDO:0017312 True Perrault syndrome 5 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014505 MONDO:0100062 True developmental and epileptic encephalopathy, 27 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014506 MONDO:0019046 True hypomyelinating leukodystrophy 9 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014507 MONDO:0015159 True Catel-Manzke syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014510 MONDO:0019701 True fatty acyl-CoA reductase 1 deficiency chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014511 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014512 MONDO:0000426 True PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014514 MONDO:0019625 True aortic aneurysm, familial thoracic 9 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014516 MONDO:0000181 True microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014516 MONDO:0006025 True microcephaly and chorioretinopathy 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014517 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014518 MONDO:0000009 True platelet-type bleeding disorder 19 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014520 MONDO:0019852 True 46,XX ovarian dysgenesis-short stature syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014521 MONDO:0020074 True progressive myoclonic epilepsy type 7 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014523 MONDO:0100309 True juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014524 MONDO:0019502 True intellectual disability, autosomal recessive 47 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014525 MONDO:0000732 True combined oxidative phosphorylation defect type 23 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014526 MONDO:0000192 True polyglucosan body myopathy type 2 polyglucosan body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014527 MONDO:0015356 True progeroid features-hepatocellular carcinoma predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014528 MONDO:0002254 True chronic atrial and intestinal dysrhythmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014529 MONDO:0003847 True cerebellar-facial-dental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014529 MONDO:0015159 True cerebellar-facial-dental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014529 MONDO:0020022 True cerebellar-facial-dental syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014530 MONDO:0018189 True autosomal recessive spinocerebellar ataxia 18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014531 MONDO:0005144 True amyotrophic lateral sclerosis type 22 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014532 MONDO:0009637 True autosomal dominant mitochondrial myopathy with exercise intolerance inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014532 MONDO:0016387 True autosomal dominant mitochondrial myopathy with exercise intolerance mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014532 MONDO:0020123 True autosomal dominant mitochondrial myopathy with exercise intolerance metabolic myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014534 MONDO:0015204 True lissencephaly 6 with microcephaly microlissencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014536 MONDO:0100241 True thrombocytopenia 5 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014537 MONDO:0019005 True nephronophthisis 19 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014538 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 5 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014539 MONDO:0005363 True focal segmental glomerulosclerosis 9 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014541 MONDO:0002254 True motor developmental delay due to 14q32.2 paternally expressed gene defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014542 MONDO:0018940 True congenital myasthenic syndrome 15 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014543 MONDO:0000182 True congenital myasthenic syndrome 14 congenital myasthenic syndrome with tubular aggregates UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014545 MONDO:0018117 True progressive myoclonic epilepsy type 8 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014545 MONDO:0020074 True progressive myoclonic epilepsy type 8 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014546 MONDO:0016199 True myopathy due to calsequestrin and SERCA1 protein overload qualitative or quantitative defects of protein SERCA1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014547 MONDO:0000732 True combined oxidative phosphorylation defect type 24 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014548 MONDO:0019171 True long QT syndrome 14 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014549 MONDO:0017436 True lethal congenital contracture syndrome 6 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014550 MONDO:0019171 True long QT syndrome 15 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014552 MONDO:0015168 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014552 MONDO:0018921 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014552 MONDO:0020022 True lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014555 MONDO:0010033 True peeling skin syndrome type A generalized peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014556 MONDO:0003847 True congenital contractures of the limbs and face, hypotonia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014557 MONDO:0020047 True ataxia - oculomotor apraxia type 4 autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014557 MONDO:0020127 True ataxia - oculomotor apraxia type 4 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014557 MONDO:0044807 True ataxia - oculomotor apraxia type 4 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014558 MONDO:0015159 True autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014566 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014567 MONDO:0015150 True glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014568 MONDO:0015149 True hereditary spastic paraplegia 73 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014569 MONDO:0017436 True lethal congenital contracture syndrome 7 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014570 MONDO:0017436 True lethal congenital contracture syndrome 8 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014571 MONDO:0043878 True optic atrophy 9 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014572 MONDO:0015244 True Lichtenstein-Knorr syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014573 MONDO:0016085 True Cole-Carpenter syndrome 2 Cole-Carpenter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014575 MONDO:0008429 True Singleton-Merten syndrome 2 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014576 MONDO:0018424 True lipoyl transferase 1 deficiency inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014577 MONDO:0018770 True short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014579 MONDO:0017842 True Senior-Loken syndrome 8 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014580 MONDO:0015802 True intellectual disability, autosomal dominant 33 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014589 MONDO:0018911 True maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014590 MONDO:0018940 True congenital myasthenic syndrome 18 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014592 MONDO:0000181 True microcephaly and chorioretinopathy 3 microcephaly and chorioretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014597 MONDO:0003778 True immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014599 MONDO:0015802 True intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014601 MONDO:0015159 True autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014601 MONDO:0015244 True autosomal recessive spinocerebellar ataxia 20 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014601 MONDO:0020022 True autosomal recessive spinocerebellar ataxia 20 central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014602 MONDO:0015159 True intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014603 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 40 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014604 MONDO:0008199 True Parkinson disease 21 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014605 MONDO:0000426 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014605 MONDO:0015159 True microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014606 MONDO:0015159 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014606 MONDO:0100172 True intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014608 MONDO:0002254 True mandibulofacial dysostosis with alopecia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014608 MONDO:0015483 True mandibulofacial dysostosis with alopecia mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014608 MONDO:0018234 True mandibulofacial dysostosis with alopecia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014608 MONDO:0018751 True mandibulofacial dysostosis with alopecia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014609 MONDO:0015159 True cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014611 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 4 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014611 MONDO:0019046 True multiple mitochondrial dysfunctions syndrome 4 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014612 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014613 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014614 MONDO:0006025 True congenital stationary night blindness 1G autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014614 MONDO:0016293 True congenital stationary night blindness 1G congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014615 MONDO:0002470 True trichothiodystrophy 2, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014617 MONDO:0100172 True intellectual disability, autosomal dominant 38 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014618 MONDO:0019200 True retinitis pigmentosa 71 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014619 MONDO:0002470 True trichothiodystrophy 3, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014620 MONDO:0000903 True myoclonic dystonia 26 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014621 MONDO:0015263 True Brugada syndrome 9 Brugada syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014622 MONDO:0017672 True isolated focal non-epidermolytic palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014623 MONDO:0016660 True microcephaly 14, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014624 MONDO:0004753 True Brown syndrome mechanical strabismus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014626 MONDO:0019793 True spinocerebellar ataxia type 41 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014627 MONDO:0000479 True dystonia 27 segmental dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014627 MONDO:0015990 True dystonia 27 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014628 MONDO:0008947 True basal ganglia calcification, idiopathic, 6 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014629 MONDO:0003847 True autoimmune interstitial lung disease-arthritis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014630 MONDO:0016362 True familial adenomatous polyposis 3 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014630 MONDO:0021055 True familial adenomatous polyposis 3 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014632 MONDO:0019046 True hypomyelinating leukodystrophy 10 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014634 MONDO:0010765 True 46,XY sex reversal 10 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014635 MONDO:0000170 True microphthalmia, isolated, with coloboma 10 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014636 MONDO:0000732 True combined oxidative phosphorylation defect type 25 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014637 MONDO:0021094 True DOCK2 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014638 MONDO:0019391 True Fanconi anemia complementation group T Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014639 MONDO:0005115 True familial temporal lobe epilepsy 7 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014640 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014640 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014641 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014641 MONDO:0017161 True frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014642 MONDO:0015279 True candidiasis, familial, 9 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014643 MONDO:0015159 True congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014644 MONDO:0015150 True hereditary spastic paraplegia 74 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014645 MONDO:0003778 True BENTA disease inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014646 MONDO:0000200 True Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014647 MONDO:0017749 True developmental and epileptic encephalopathy, 50 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014647 MONDO:0019238 True developmental and epileptic encephalopathy, 50 inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014647 MONDO:0100062 True developmental and epileptic encephalopathy, 50 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014649 MONDO:0019502 True intellectual disability, autosomal recessive 50 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014651 MONDO:0018237 True acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014656 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014658 MONDO:0000426 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014658 MONDO:0019685 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014659 MONDO:0000023 True infantile liver failure syndrome 2 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014660 MONDO:0016660 True microcephaly 15, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014661 MONDO:0017610 True epidermolysis bullosa simplex with nail dystrophy epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014663 MONDO:0008394 True Silver-Russell syndrome 3 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014665 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014667 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014668 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014669 MONDO:0015993 True cone-rod dystrophy 21 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014670 MONDO:0017436 True lethal congenital contracture syndrome 9 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014674 MONDO:0018911 True maturity-onset diabetes of the young type 14 maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014675 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 104 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014676 MONDO:0016830 True Emery-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014677 MONDO:0018852 True achromatopsia 7 achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014678 MONDO:0100172 True intellectual disability, autosomal dominant 39 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014683 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014684 MONDO:0000732 True combined oxidative phosphorylation defect type 26 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014685 MONDO:0020074 True progressive myoclonic epilepsy type 9 progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014687 MONDO:0019200 True retinitis pigmentosa 73 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014688 MONDO:0018770 True short-rib thoracic dysplasia 14 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014689 MONDO:0001029 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014689 MONDO:0019952 True Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014690 MONDO:0000426 True dyskeratosis congenita, autosomal dominant 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014690 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014691 MONDO:0018997 True Noonan syndrome 9 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014692 MONDO:0019200 True retinitis pigmentosa 74 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014693 MONDO:0018997 True Noonan syndrome 10 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014696 MONDO:0008926 True cerebrooculofacioskeletal syndrome 3 COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014697 MONDO:0015517 True immunodeficiency, common variable, 12 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014700 MONDO:0018681 True Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014701 MONDO:0016761 True spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014701 MONDO:0022800 True spondyloepiphyseal dysplasia, Stanescu type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014702 MONDO:0015150 True autosomal recessive complex spastic paraplegia type 9B complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014703 MONDO:0007034 True Adams-Oliver syndrome 6 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014704 MONDO:0018230 True skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014706 MONDO:0019571 True cutis laxa, autosomal dominant 3 autosomal dominant cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014707 MONDO:0016964 True 14q32 duplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014710 MONDO:0019146 True autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014711 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014712 MONDO:0017842 True Senior-Loken syndrome 9 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014715 MONDO:0003778 True primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014716 MONDO:0015159 True macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014717 MONDO:0020074 True early-onset Lafora body disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014719 MONDO:0019236 True developmental and epileptic encephalopathy, 35 inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014719 MONDO:0024237 True developmental and epileptic encephalopathy, 35 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014719 MONDO:0100062 True developmental and epileptic encephalopathy, 35 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014720 MONDO:0020250 True autosomal dominant optic atrophy plus syndrome autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014723 MONDO:0016967 True PMP22-RAI1 contiguous gene duplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014724 MONDO:0018772 True Joubert syndrome 24 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014725 MONDO:0018162 True spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014726 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014727 MONDO:0021094 True immunodeficiency 45 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014728 MONDO:0000732 True combined oxidative phosphorylation defect type 27 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014729 MONDO:0015150 True hereditary spastic paraplegia 75 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014730 MONDO:0016660 True microcephaly 16, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014731 MONDO:0015286 True seizures-scoliosis-macrocephaly syndrome congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014732 MONDO:0019046 True hypomyelinating leukodystrophy 12 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014733 MONDO:0016387 True Charcot-Marie-Tooth disease type 4K mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014733 MONDO:0018995 True Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014735 MONDO:0018993 True Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014736 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014737 MONDO:0017910 True dehydrated hereditary stomatocytosis 2 dehydrated hereditary stomatocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014738 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 69 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014739 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 97 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014740 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 68 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014741 MONDO:0018760 True DeSanto-Shinawi syndrome due to WAC point mutation DeSanto-Shinawi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014742 MONDO:0008199 True Parkinson disease 22, autosomal dominant late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014744 MONDO:0020047 True acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0005501 True SLC39A8-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014746 MONDO:0015159 True SLC39A8-CDG multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0017740 True SLC39A8-CDG disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0020022 True SLC39A8-CDG central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014748 MONDO:0015159 True progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014749 MONDO:0005486 True tooth agenesis, selective, 7 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014750 MONDO:0016575 True primary ciliary dyskinesia 33 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014751 MONDO:0015159 True palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014754 MONDO:0018151 True primary coenzyme Q10 deficiency 8 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014755 MONDO:0007990 True skin creases, congenital symmetric circumferential, 2 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014756 MONDO:0003233 True tremor, hereditary essential, 5 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014757 MONDO:0015159 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014757 MONDO:0018795 True macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014758 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014759 MONDO:0019502 True intellectual disability, autosomal recessive 51 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014760 MONDO:0021094 True TFRC-related combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014762 MONDO:0018677 True heterotaxy, visceral, 7, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015150 True spastic paraplegia-severe developmental delay-epilepsy syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015159 True spastic paraplegia-severe developmental delay-epilepsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014764 MONDO:0015653 True spastic paraplegia-severe developmental delay-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014765 MONDO:0003847 True wooly hair, autosomal recessive 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014765 MONDO:0008686 True wooly hair, autosomal recessive 3 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014767 MONDO:0019342 True Seckel syndrome 9 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014768 MONDO:0007432 True cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014770 MONDO:0018772 True Joubert syndrome 25 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014771 MONDO:0018772 True Joubert syndrome 26 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014773 MONDO:0015159 True cardiac anomalies - developmental delay - facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014775 MONDO:0000732 True combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014775 MONDO:0016801 True combined oxidative phosphorylation deficiency 28 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014776 MONDO:0019793 True spinocerebellar ataxia type 42 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014777 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014779 MONDO:0003321 True Wilms tumor 6 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014780 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 6 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014781 MONDO:0000732 True combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014781 MONDO:0006025 True combined oxidative phosphorylation deficiency 29 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014781 MONDO:0024237 True combined oxidative phosphorylation deficiency 29 inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014782 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2X autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014784 MONDO:0019952 True severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014785 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014787 MONDO:0015159 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014787 MONDO:0020022 True severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014788 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2W autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014789 MONDO:0005501 True CCDC115-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014789 MONDO:0017749 True CCDC115-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014790 MONDO:0005501 True TMEM199-CDG congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014790 MONDO:0017749 True TMEM199-CDG disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014792 MONDO:0005382 True Paget disease of bone 6 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014793 MONDO:0019240 True microcephaly-congenital cataract-psoriasiform dermatitis syndrome sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014794 MONDO:0016817 True Meier-Gorlin syndrome 6 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014796 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 23 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014797 MONDO:0019313 True lymphatic malformation 6 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014798 MONDO:0021004 True brachydactyly type A1D brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014800 MONDO:0016106 True progressive scapulohumeroperoneal distal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014801 MONDO:0015161 True even-plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014802 MONDO:0016063 True Cowden syndrome 7 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014803 MONDO:0017845 True spasticity-ataxia-gait anomalies syndrome spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014803 MONDO:0018424 True spasticity-ataxia-gait anomalies syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014804 MONDO:0016801 True sideroblastic anemia 3 mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014806 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 1 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014807 MONDO:0000209 True spinal muscular atrophy with congenital bone fractures 2 prenatal-onset spinal muscular atrophy with congenital bone fractures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014809 MONDO:0015356 True DDX41-related hematologic malignancy predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014810 MONDO:0015517 True pancytopenia due to IKZF1 mutations common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014813 MONDO:0019046 True hypomyelinating leukodystrophy 13 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014814 MONDO:0015609 True advanced sleep phase syndrome 3 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014815 MONDO:0019502 True intellectual disability, autosomal recessive 52 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014816 MONDO:0015161 True split-foot malformation-mesoaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0018234 True split-foot malformation-mesoaxial polydactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014816 MONDO:0019054 True split-foot malformation-mesoaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014820 MONDO:0018158 True mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014821 MONDO:0018230 True complex lethal osteochondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014822 MONDO:0016913 True 15q14 microdeletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014823 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014827 MONDO:0015150 True autosomal recessive spastic paraplegia type 76 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014828 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014829 MONDO:0000133 True immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014830 MONDO:0000009 True platelet-type bleeding disorder 20 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014832 MONDO:0017748 True intellectual disability, autosomal recessive 53 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014835 MONDO:0000211 True striatal degeneration, autosomal dominant 2 striatal degeneration, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014836 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014837 MONDO:0018795 True thrombocytopenia 6 syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014837 MONDO:0020076 True thrombocytopenia 6 myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014838 MONDO:0015452 True Coffin-Siris syndrome 5 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014841 MONDO:0018053 True trichothiodystrophy 6, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014842 MONDO:0015802 True intellectual disability, autosomal dominant 41 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014843 MONDO:0019852 True premature ovarian failure 11 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014844 MONDO:0019852 True premature ovarian failure 12 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014845 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 22 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014846 MONDO:0018446 True spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014847 MONDO:0004983 True spermatogenic failure 15 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014848 MONDO:0015159 True TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014851 MONDO:0000212 True hypercalcemia, infantile, 2 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014855 MONDO:0015802 True intellectual disability, autosomal dominant 42 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014860 MONDO:0000447 True polycystic liver disease 2 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014861 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014864 MONDO:0017766 True hypermanganesemia with dystonia 2 disorder of manganese transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014865 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CSF3R deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014866 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014867 MONDO:0020380 True spinocerebellar ataxia 43 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014868 MONDO:0100062 True developmental and epileptic encephalopathy, 38 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014869 MONDO:0016387 True hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0015929 True NEK9-related lethal skeletal dysplasia thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0017436 True NEK9-related lethal skeletal dysplasia lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014870 MONDO:0019691 True NEK9-related lethal skeletal dysplasia short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014871 MONDO:0019200 True retinitis pigmentosa 75 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014872 MONDO:0016293 True congenital stationary night blindness 1H congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014874 MONDO:0016759 True pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014875 MONDO:0016525 True hyperaldosteronism, familial, type IV familial hyperaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014876 MONDO:0019502 True intellectual disability, autosomal recessive 54 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014877 MONDO:0018949 True myopathy, distal, 5 distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014878 MONDO:0011827 True patent ductus arteriosus 2 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014880 MONDO:0007473 True Duane retraction syndrome 3 with or without deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014881 MONDO:0015159 True transketolase deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014881 MONDO:0019231 True transketolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014882 MONDO:0016387 True hereditary spastic paraplegia 77 mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014882 MONDO:0019064 True hereditary spastic paraplegia 77 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014883 MONDO:0024573 True hypertrophic cardiomyopathy 26 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014884 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 5 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014885 MONDO:0019312 True Hermansky-Pudlak syndrome 10 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014886 MONDO:0015159 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014886 MONDO:0019289 True severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014887 MONDO:0000159 True bone marrow failure syndrome 3 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014889 MONDO:0003122 True striatonigral degeneration, childhood-onset striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014889 MONDO:0044807 True striatonigral degeneration, childhood-onset inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014890 MONDO:0015526 True PERCHING syndrome cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014891 MONDO:0000608 True hyperuricemic nephropathy, familial juvenile type 4 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014892 MONDO:0015159 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014892 MONDO:0100172 True micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014894 MONDO:0016817 True Meier-Gorlin syndrome 7 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014895 MONDO:0100062 True developmental and epileptic encephalopathy, 40 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014896 MONDO:0019950 True congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014898 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014899 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014900 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014901 MONDO:0005486 True tooth agenesis, selective, 8 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014903 MONDO:0017615 True seizures, benign familial infantile, 5 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014904 MONDO:0005500 True congenital disorder of glycosylation, type IAA congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014905 MONDO:0054865 True encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to mitochondrial and peroxisomal fission defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014906 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014907 MONDO:0018770 True short-rib thoracic dysplasia 15 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014908 MONDO:0016660 True microcephaly 17, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014909 MONDO:0016575 True primary ciliary dyskinesia 34 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014910 MONDO:0016575 True primary ciliary dyskinesia 35 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014912 MONDO:0005046 True infantile-onset periodic fever-panniculitis-dermatosis syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014912 MONDO:0017953 True infantile-onset periodic fever-panniculitis-dermatosis syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014915 MONDO:0018770 True short-rib thoracic dysplasia 16 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014918 MONDO:0015159 True tall stature-intellectual disability-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014920 MONDO:0020381 True patterned macular dystrophy 3 patterned macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014922 MONDO:0018943 True myofibrillar myopathy 7 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014923 MONDO:0019347 True peeling skin syndrome 5 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014924 MONDO:0020310 True epilepsy, familial focal, with variable foci 2 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014925 MONDO:0020310 True epilepsy, familial focal, with variable foci 3 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014926 MONDO:0015229 True Bardet-Biedl syndrome 22 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014927 MONDO:0018772 True Joubert syndrome 27 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014928 MONDO:0018772 True Joubert syndrome 28 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014929 MONDO:0019200 True retinitis pigmentosa 76 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014932 MONDO:0015375 True orofaciodigital syndrome XV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014936 MONDO:0015159 True ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014937 MONDO:0007119 True aniridia 2 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014938 MONDO:0007119 True aniridia 3 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014939 MONDO:0018940 True congenital myasthenic syndrome 20 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014943 MONDO:0018158 True mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014944 MONDO:0015159 True short stature-brachydactyly-obesity-global developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014944 MONDO:0019695 True short stature-brachydactyly-obesity-global developmental delay syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014945 MONDO:0018949 True myopathy, distal, with rimmed vacuoles distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0014950 MONDO:0019625 True aortic aneurysm, familial thoracic 10 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014951 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 74 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014953 MONDO:0006025 True gnb5-related intellectual disability-cardiac arrhythmia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014959 MONDO:0018158 True mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014961 MONDO:0004983 True spermatogenic failure 16 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014962 MONDO:0019502 True intellectual disability, autosomal recessive 57 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014965 MONDO:0017436 True lethal congenital contracture syndrome 11 lethal congenital contracture syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014966 MONDO:0020341 True periventricular nodular heterotopia 7 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014967 MONDO:0018677 True heterotaxy, visceral, 8, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014969 MONDO:0019231 True isolated sedoheptulokinase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014970 MONDO:0004983 True spermatogenic failure 17 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014975 MONDO:0006025 True autosomal recessive spastic paraplegia type 78 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014975 MONDO:0015150 True autosomal recessive spastic paraplegia type 78 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014976 MONDO:0000732 True lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014977 MONDO:0015152 True autosomal recessive limb-girdle muscular dystrophy type 2R1 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014977 MONDO:0017741 True autosomal recessive limb-girdle muscular dystrophy type 2R1 disorder of protein O-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014981 MONDO:0003778 True immunodeficiency 49 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014981 MONDO:0031520 True immunodeficiency 49 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014982 MONDO:0001384 True myopia 25, autosomal dominant myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014983 MONDO:0018940 True congenital myasthenic syndrome 21 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014985 MONDO:0019391 True Fanconi anemia complementation group V Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014986 MONDO:0019391 True Fanconi anemia complementation group R Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014987 MONDO:0019391 True Fanconi anemia complementation group U Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014991 MONDO:0019342 True Seckel syndrome 10 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014992 MONDO:0018838 True lissencephaly 8 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014993 MONDO:0018943 True myofibrillar myopathy 8 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014996 MONDO:0019502 True intellectual disability, autosomal recessive 58 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014997 MONDO:0019005 True nephronophthisis 20 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014999 MONDO:0005486 True tooth agenesis, selective, 9 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015000 MONDO:0100062 True developmental and epileptic encephalopathy, 48 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015001 MONDO:0018054 True atrial fibrillation, familial, 18 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015002 MONDO:0100062 True developmental and epileptic encephalopathy, 49 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015003 MONDO:0018424 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015003 MONDO:0024237 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015003 MONDO:0044807 True dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015004 MONDO:0044807 True dystonia 28, childhood-onset inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015005 MONDO:0009945 True epilepsy, early-onset, vitamin B6-dependent pyridoxine-dependent epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015005 MONDO:0957599 True epilepsy, early-onset, vitamin B6-dependent epilepsy, early-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015006 MONDO:0017610 True epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015007 MONDO:0015087 True spastic paraplegia, intellectual disability, nystagmus, and obesity autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015009 MONDO:0019313 True lymphatic malformation 7 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015010 MONDO:0011612 True atypical glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0015011 MONDO:0043878 True optic atrophy 11 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0015159 True mucopolysaccharidosis-plus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015013 MONDO:0019200 True retinitis pigmentosa 77 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015015 MONDO:0018841 True congenital bile acid synthesis defect 6 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015016 MONDO:0019503 True anterior segment dysgenesis 6 anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015017 MONDO:0019503 True anterior segment dysgenesis 8 anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015018 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 12 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015020 MONDO:0019502 True intellectual disability, autosomal recessive 59 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015021 MONDO:0003847 True hypotonia, ataxia, and delayed development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015023 MONDO:0018958 True MYPN-related myopathy nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015024 MONDO:0019287 True ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015025 MONDO:0100062 True developmental and epileptic encephalopathy, 51 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015026 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 2 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0015027 MONDO:0016365 True familial isolated hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015028 MONDO:0017975 True 48,XXYY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015029 MONDO:0015031 True reticular perineurioma extraneural perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015030 MONDO:0015031 True sclerosing perineurioma extraneural perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015031 MONDO:0019404 True extraneural perineurioma perineurioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015032 MONDO:0019404 True intraneural perineurioma perineurioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015034 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type A lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015035 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type B lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015036 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type C lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015037 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type D lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015038 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type E lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015039 MONDO:0019450 True lissencephaly with cerebellar hypoplasia type F lissencephaly with cerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015040 MONDO:0019454 True myelodysplastic syndrome with excess blasts-1 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015041 MONDO:0019454 True myelodysplastic syndrome with excess blasts-2 myelodysplastic syndrome with excess blasts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015042 MONDO:0005615 True primary plasmacytoma of the bone plasmacytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015043 MONDO:0005615 True extramedullary soft tissue plasmacytoma plasmacytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015044 MONDO:0019464 True mu-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015045 MONDO:0019464 True alpha-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015046 MONDO:0019464 True gamma-heavy chain disease heavy chain disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015047 MONDO:0019507 True amelogenesis imperfecta type 1 amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015048 MONDO:0019507 True amelogenesis imperfecta type 2 amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015053 MONDO:0033946 True hereditary angioedema type 1 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015054 MONDO:0033946 True hereditary angioedema type 2 hereditary angioedema with C1Inh deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015055 MONDO:0019624 True acquired angioedema type 2 acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015056 MONDO:0019624 True acquired angioedema type 1 acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015057 MONDO:0019624 True renin-angiotensin-aldosterone system-blocker-induced angioedema acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015061 MONDO:0005979 True neurogenic thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015062 MONDO:0000386 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015062 MONDO:0003111 True gastric neuroendocrine tumor, well differentiated, low or intermediate grade gastric neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015063 MONDO:0002995 True duodenal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015064 MONDO:0002564 True jejunal neuroendocrine tumor, well differentiated, low or intermediate grade jejunal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015064 MONDO:0002995 True jejunal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015065 MONDO:0002995 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015065 MONDO:0006801 True ileal neuroendocrine tumor, well differentiated, low or intermediate grade ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015066 MONDO:0018511 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade epithelial tumor of the appendix UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015066 MONDO:0024501 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade appendix neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015067 MONDO:0000386 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015067 MONDO:0002882 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015068 MONDO:0000386 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015068 MONDO:0003646 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015069 MONDO:0003504 True neuroendocrine tumor of the anal canal anal canal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015070 MONDO:0005586 True laryngeal neuroendocrine neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015070 MONDO:0021071 True laryngeal neuroendocrine neoplasm laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015071 MONDO:0019496 True middle ear neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015072 MONDO:0002120 True liver neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015072 MONDO:0018531 True liver neuroendocrine carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015072 MONDO:0024503 True liver neuroendocrine carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015073 MONDO:0000386 True gallbladder neuroendocrine tumor, grade 1/2 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015073 MONDO:0024502 True gallbladder neuroendocrine tumor, grade 1/2 gallbladder neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015074 MONDO:0003240 True thyroid tumor thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015075 MONDO:0002108 True thyroid gland carcinoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015075 MONDO:0004993 True thyroid gland carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015079 MONDO:0015126 True multiple polyglandular tumor polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015082 MONDO:0004907 True alopecia antibody deficiency alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015085 MONDO:0017265 True bathing suit ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015086 MONDO:0015338 True cloverleaf skull-asphyxiating thoracic dysplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015087 MONDO:0015150 True autosomal dominant complex spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015092 MONDO:0016064 True cleft hard palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015093 MONDO:0016292 True sub-cortical nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015094 MONDO:0016292 True subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015097 MONDO:0017735 True aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015099 MONDO:0017092 True unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015100 MONDO:0019453 True aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015101 MONDO:0007946 True Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015103 MONDO:0020064 True pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015104 MONDO:0002520 True porphyria cutanea tarda hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015109 MONDO:0019817 True congenital anomaly of the mitral subvalvular apparatus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015137 MONDO:0019751 True periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015140 MONDO:0015547 True early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015140 MONDO:0024237 True early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015146 MONDO:0018838 True classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015148 MONDO:0018838 True lissencephaly type 3 lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015149 MONDO:0019064 True pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015150 MONDO:0019064 True complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015151 MONDO:0000426 True muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015151 MONDO:0016971 True muscular dystrophy, limb-girdle, autosomal dominant limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015152 MONDO:0006025 True autosomal recessive limb-girdle muscular dystrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015152 MONDO:0016971 True autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015157 MONDO:0017341 True human herpesvirus 8-related tumor virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015158 MONDO:0015137 True unexplained periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015159 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015161 MONDO:0019042 True multiple congenital anomalies/dysmorphic syndrome without intellectual disability multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015164 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015165 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015166 MONDO:0018874 True acute myeloid leukemia with t(8;21)(q22;q22) translocation acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015167 MONDO:0018234 True amniotic band syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015168 MONDO:0003847 True arthrogryposis multiplex congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015168 MONDO:0015225 True arthrogryposis multiplex congenita arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015169 MONDO:0017706 True chronic diarrhea due to glucoamylase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015175 MONDO:0000569 True autoimmune pancreatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015177 MONDO:0018230 True metaphyseal anadysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015183 MONDO:0005020 True short bowel syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015185 MONDO:0015356 True intestinal polyposis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015191 MONDO:0017574 True myopathic intestinal pseudoobstruction chronic intestinal pseudoobstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015193 MONDO:0019755 True hydrops fetalis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015194 MONDO:0002280 True sideroblastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015195 MONDO:0018559 True atresia of urethra fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015201 MONDO:0019755 True ankyloblepharon filiforme-imperforate anus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015203 MONDO:0019512 True coronary artery congenital malformation congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015204 MONDO:0018838 True microlissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015205 MONDO:0015146 True isolated lissencephaly type 1 without known genetic defects classic lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015225 MONDO:0019054 True arthrogryposis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015229 MONDO:0002254 True Bardet-Biedl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015229 MONDO:0005308 True Bardet-Biedl syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015229 MONDO:0006025 True Bardet-Biedl syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015230 MONDO:0015161 True anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015231 MONDO:0006510 True Bartter syndrome renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015231 MONDO:0015962 True Bartter syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015232 MONDO:0018234 True radial deficiency-tibial hypoplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015232 MONDO:0019054 True radial deficiency-tibial hypoplasia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015233 MONDO:0015159 True caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015234 MONDO:0015159 True arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015236 MONDO:0020292 True aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015238 MONDO:0015161 True arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015239 MONDO:0016581 True abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015240 MONDO:0015161 True digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015240 MONDO:0019942 True digitotalar dysmorphism distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015241 MONDO:0015168 True arthrogryposis-like syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015243 MONDO:0000771 True allergic bronchopulmonary aspergillosis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015243 MONDO:0005657 True allergic bronchopulmonary aspergillosis aspergillosis SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015244 MONDO:0006025 True autosomal recessive cerebellar ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015247 MONDO:0018215 True opsoclonus-myoclonus syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015248 MONDO:0015159 True ataxia-photosensitivity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015248 MONDO:0100309 True ataxia-photosensitivity-short stature syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0019817 True mitral atresia disorder congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015250 MONDO:0016113 True spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015252 MONDO:0015159 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015252 MONDO:0100309 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015253 MONDO:0001713 True Diamond-Blackfan anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015254 MONDO:0004664 True schistosomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015259 MONDO:0015159 True brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015261 MONDO:0004907 True pseudopelade of Brocq alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015262 MONDO:0005516 True brachyolmia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015262 MONDO:0019694 True brachyolmia spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015263 MONDO:0000992 True Brugada syndrome heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015263 MONDO:0003847 True Brugada syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015264 MONDO:0002429 True cryptogenic organizing pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015265 MONDO:0015925 True bronchiolitis obliterans syndrome interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015267 MONDO:0000426 True Feingold syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015267 MONDO:0002254 True Feingold syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015270 MONDO:0019253 True butyrylcholinesterase deficiency metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015271 MONDO:0016105 True idiopathic camptocormia acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015272 MONDO:0019054 True camptodactyly-taurinuria syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015273 MONDO:0020290 True complete atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015274 MONDO:0015926 True chronic beryllium disease pneumoconiosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015275 MONDO:0020290 True partial atrioventricular canal familial atrioventricular septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015277 MONDO:0002120 True medullary thyroid gland carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015278 MONDO:0005192 True familial pancreatic carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015279 MONDO:0003778 True chronic mucocutaneous candidiasis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015280 MONDO:0015159 True cardiofaciocutaneous syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015280 MONDO:0019287 True cardiofaciocutaneous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0015280 MONDO:0020297 True cardiofaciocutaneous syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015281 MONDO:0016340 True atrial standstill familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015284 MONDO:0015161 True heart-hand syndrome type 2 multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015284 MONDO:0016432 True heart-hand syndrome type 2 heart-hand syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015285 MONDO:0000426 True Carney complex autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015286 MONDO:0019052 True congenital disorder of glycosylation inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015289 MONDO:0023865 True infectious epithelial keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015293 MONDO:0017623 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015293 MONDO:0019716 True segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015301 MONDO:0019065 True primary cutaneous amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015301 MONDO:0021154 True primary cutaneous amyloidosis dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015302 MONDO:0015301 True nodular cutaneous amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015303 MONDO:0015301 True macular amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015304 MONDO:0004796 True arachnoiditis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015306 MONDO:0000315 True Lemierre syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015307 MONDO:0020128 True Madras motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015312 MONDO:0012155 True choanal atresia, unilateral choanal atresia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015313 MONDO:0012155 True choanal atresia, bilateral choanal atresia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015317 MONDO:0016223 True laryngotracheal angioma infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015324 MONDO:0015159 True cataract-intellectual disability-anal atresia-urinary defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015325 MONDO:0015159 True cataract-deafness-hypogonadism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015326 MONDO:0015161 True night blindness-skeletal anomalies-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015327 MONDO:0019755 True developmental anomaly of metabolic origin developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015333 MONDO:0019755 True progeroid syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015337 MONDO:0015469 True isolated craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015338 MONDO:0015469 True syndromic craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015339 MONDO:0018544 True adrenomyeloneuropathy adrenoleukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015339 MONDO:0020127 True adrenomyeloneuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015340 MONDO:0017396 True drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015344 MONDO:0015342 True idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015345 MONDO:0020072 True perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015346 MONDO:0020072 True Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015347 MONDO:0002254 True multicentric reticulohistiocytosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015347 MONDO:0015531 True multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015348 MONDO:0019046 True leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015349 MONDO:0019046 True progressive cavitating leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015350 MONDO:0016967 True 17q11.2 microduplication syndrome partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015351 MONDO:0020127 True neuropathy with hearing impairment hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015352 MONDO:0015362 True distal hereditary motor neuropathy type 2 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015355 MONDO:0015362 True distal hereditary motor neuropathy type 7 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015362 MONDO:0000426 True neuronopathy, distal hereditary motor, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015362 MONDO:0001516 True neuronopathy, distal hereditary motor, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015362 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal dominant distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015363 MONDO:0006025 True neuronopathy, distal hereditary motor, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015363 MONDO:0018894 True neuronopathy, distal hereditary motor, autosomal recessive distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015364 MONDO:0020127 True hereditary sensory and autonomic neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015367 MONDO:0015161 True Charlie M syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015367 MONDO:0017139 True Charlie M syndrome oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015369 MONDO:0020043 True Joubert syndrome and related disorders autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015371 MONDO:0021154 True linear atrophoderma of Moulin dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015375 MONDO:0015498 True orofaciodigital syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015376 MONDO:0015476 True first branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015377 MONDO:0015476 True third branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015378 MONDO:0015476 True fourth branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015379 MONDO:0015476 True cervical dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015380 MONDO:0015476 True facial dermoid cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015381 MONDO:0015476 True commissural lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015382 MONDO:0015476 True lower lip fistula cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015383 MONDO:0015476 True cervicofacial fibrochondroma cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015384 MONDO:0015476 True digestive duplication cyst of the tongue cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015386 MONDO:0019500 True epignathus extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015391 MONDO:0019500 True nasopharyngeal teratoma extragonadal teratoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015393 MONDO:0016733 True nasal ganglioglioma ganglioglioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015394 MONDO:0016057 True nasal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015397 MONDO:0002254 True craniofacial microsomia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015399 MONDO:0017139 True glossopalatine ankylosis oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015400 MONDO:0015500 True frontonasal arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015401 MONDO:0015500 True maxillary arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015402 MONDO:0015500 True mandibular arteriovenous malformation facial arteriovenous malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015406 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015407 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015408 MONDO:0002013 True diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015410 MONDO:0015476 True nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015411 MONDO:0019755 True facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015413 MONDO:0015411 True median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015416 MONDO:0015411 True Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015417 MONDO:0015411 True Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015419 MONDO:0015411 True midline cervical cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015421 MONDO:0015375 True orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015422 MONDO:0015375 True orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015426 MONDO:0019755 True Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015427 MONDO:0016058 True paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015428 MONDO:0019287 True choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015445 MONDO:0007345 True autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015446 MONDO:0007345 True atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015449 MONDO:0019512 True criss-cross heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015450 MONDO:0019512 True triatrial heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015451 MONDO:0019820 True univentricular heart univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015452 MONDO:0002254 True Coffin-Siris syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015452 MONDO:0003847 True Coffin-Siris syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015452 MONDO:0015159 True Coffin-Siris syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015453 MONDO:0005328 True Cogan syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015454 MONDO:0019214 True multiple carboxylase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015454 MONDO:0019215 True multiple carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015458 MONDO:0015159 True intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015459 MONDO:0002038 True nasopharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015459 MONDO:0017344 True nasopharyngeal carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015459 MONDO:0021315 True nasopharyngeal carcinoma malignant tumor of nasopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015459 MONDO:0021345 True nasopharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0015929 True short rib-polydactyly syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0019691 True short rib-polydactyly syndrome short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015462 MONDO:0018230 True thin ribs-tubular bones-dysmorphism syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015463 MONDO:0015159 True craniodigital syndrome-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015464 MONDO:0015856 True craniofrontonasal dysplasia-Poland anomaly syndrome syndromic breast hypoplasia/aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015464 MONDO:0016643 True craniofrontonasal dysplasia-Poland anomaly syndrome frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015466 MONDO:0016620 True cranio-osteoarthropathy primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015467 MONDO:0015338 True craniosynostosis, Philadelphia type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015469 MONDO:0001411 True craniosynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015471 MONDO:0020073 True benign focal seizures of adolescence adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015473 MONDO:0015159 True cryptorchidism-arachnodactyly-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015474 MONDO:0005707 True cryptosporidiosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015476 MONDO:0019755 True cysts and fistulae of the face and oral cavity developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015477 MONDO:0015476 True pinnae fistula or cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015479 MONDO:0016064 True submucosal cleft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015480 MONDO:0015411 True coloboma of superior eyelid facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015481 MONDO:0015411 True coloboma of inferior eyelid facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015484 MONDO:0000367 True cysticercosis taeniasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015486 MONDO:0000942 True keratoconus corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015487 MONDO:0016387 True fatal infantile encephalocardiomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015491 MONDO:0018882 True immune complex mediated vasculitis vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015494 MONDO:0044807 True isolated dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015496 MONDO:0019755 True macroglossia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015515 MONDO:0017716 True carnitine palmitoyltransferase II deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015517 MONDO:0015356 True common variable immunodeficiency hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015519 MONDO:0800448 True congenital or early infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015520 MONDO:0800448 True late infantile CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015521 MONDO:0800448 True juvenile or adult CACH syndrome leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015523 MONDO:0002095 True epithelioid hemangioendothelioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015523 MONDO:0021121 True epithelioid hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015524 MONDO:0015185 True hyperplastic polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015525 MONDO:0018234 True congenital pseudoarthrosis of the limbs dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015526 MONDO:0018431 True cold-induced sweating syndrome cold-induced sweating syndrome - hyperthermia spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0003396 True congenital epulis epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015529 MONDO:0015530 True paroxysmal Hemicrania trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015531 MONDO:0002637 True non-Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015532 MONDO:0015531 True generalized eruptive histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015533 MONDO:0015531 True benign cephalic histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015534 MONDO:0015531 True juvenile xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015535 MONDO:0015531 True xanthoma disseminatum non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015536 MONDO:0015531 True papular xanthoma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015537 MONDO:0015531 True necrobiotic xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015538 MONDO:0006247 True indeterminate dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015538 MONDO:0015531 True indeterminate dendritic cell tumor non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015539 MONDO:0015531 True progressive nodular histiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015540 MONDO:0005833 True hemophagocytic syndrome lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015541 MONDO:0003778 True hereditary hemophagocytic lymphohistiocytosis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015541 MONDO:0015540 True hereditary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015542 MONDO:0015540 True secondary hemophagocytic lymphohistiocytosis hemophagocytic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015544 MONDO:0015542 True acquired hemophagocytic lymphohistiocytosis associated with malignant disease secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015545 MONDO:0015542 True macrophage activation syndrome secondary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015546 MONDO:0016909 True non-distal monosomy 10q partial monosomy of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015552 MONDO:0006543 True acral dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015553 MONDO:0006543 True dystrophic epidermolysis bullosa, nails only epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015554 MONDO:0019316 True typical urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015555 MONDO:0019316 True plaque-form urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015556 MONDO:0019316 True nodular urticaria pigmentosa maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015562 MONDO:0016915 True distal monosomy 17q partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015564 MONDO:0016537 True Castleman disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015566 MONDO:0016901 True 2q24 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015570 MONDO:0015604 True isolated congenital auditory ossicle malformation middle ear anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015571 MONDO:0016904 True deletion 5q35 partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015579 MONDO:0011399 True Hb Bart's hydrops fetalis alpha thalassemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015580 MONDO:0016906 True distal monosomy 7q36 partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015583 MONDO:0016884 True 2p21 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015584 MONDO:0020072 True febrile infection-related epilepsy syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015585 MONDO:0020072 True cryptogenic late-onset epileptic spasms childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015587 MONDO:0020072 True rolandic epilepsy-speech dyspraxia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015588 MONDO:0019956 True limbic encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015597 MONDO:0002406 True pustulosis palmaris et plantaris dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015597 MONDO:0019268 True pustulosis palmaris et plantaris epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015601 MONDO:0020119 True X-linked intellectual disability, van Esch type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015604 MONDO:0019755 True middle ear anomaly developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015605 MONDO:0020040 True distal monosomy 9p 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015606 MONDO:0017004 True Xp22.3 microdeletion syndrome partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015608 MONDO:0019457 True acute myeloid leukemia and myelodysplastic syndromes related to radiation therapy related acute myeloid leukemia and myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015609 MONDO:0003847 True advanced sleep phase syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015610 MONDO:0015909 True acquired aplastic anemia aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015611 MONDO:0018117 True neutral lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015611 MONDO:0019245 True neutral lipid storage disease lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015612 MONDO:0006510 True Dent disease renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015612 MONDO:0015962 True Dent disease inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015613 MONDO:0002220 True dentin dysplasia tooth hard tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015614 MONDO:0019337 True dermatitis herpetiformis autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015622 MONDO:0020568 True wound myiasis cutaneous myiasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015623 MONDO:0019147 True cavitary myiasis myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015624 MONDO:0019010 True diazoxide-sensitive diffuse hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015625 MONDO:0017186 True diazoxide-resistant diffuse hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015626 MONDO:0020127 True Charcot-Marie-Tooth disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015627 MONDO:0016648 True multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015628 MONDO:0013304 True von Willebrand disease type 2A von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015629 MONDO:0013304 True von Willebrand disease type 2B von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015630 MONDO:0013304 True von Willebrand disease type 2M von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015631 MONDO:0013304 True von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015632 MONDO:0016387 True FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015636 MONDO:0016075 True dirofilariasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015637 MONDO:0015642 True benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015638 MONDO:0015637 True benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015639 MONDO:0015637 True benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015640 MONDO:0015642 True benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015641 MONDO:0015642 True benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015642 MONDO:0020071 True benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015644 MONDO:0017768 True audiogenic seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015645 MONDO:0017768 True eating seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015646 MONDO:0017768 True orgasm-induced seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015647 MONDO:0017768 True thinking seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015648 MONDO:0017768 True startle epilepsy reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015649 MONDO:0017768 True micturation-induced seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015661 MONDO:0005453 True dextrocardia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015661 MONDO:0018677 True dextrocardia visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015664 MONDO:0020292 True idiopathic pulmonary artery dilatation congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015665 MONDO:0018432 True scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015666 MONDO:0019512 True familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015674 MONDO:0002561 True late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015677 MONDO:0019512 True cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015678 MONDO:0018230 True dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015688 MONDO:0015756 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015688 MONDO:0044881 True myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 hematopoietic and lymphoid cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015689 MONDO:0015688 True myeloid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015690 MONDO:0015688 True myeloid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015691 MONDO:0016345 True hypereosinophilic syndrome non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015692 MONDO:0018881 True refractory anemia with excess blasts in transformation myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015696 MONDO:0017769 True Good syndrome acquired immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015697 MONDO:0003778 True immunoglobulin heavy chain deficiency inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015698 MONDO:0003827 True transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015699 MONDO:0003832 True immunodeficiency due to a classical component pathway complement deficiency complement deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015700 MONDO:0003832 True immunodeficiency due to a late component of complement deficiency complement deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015701 MONDO:0044200 True T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015702 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015703 MONDO:0044200 True T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015704 MONDO:0015338 True familial scaphocephaly syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015705 MONDO:0018947 True autosomal recessive centronuclear myopathy centronuclear myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015708 MONDO:0003778 True immuno-osseous dysplasia inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015712 MONDO:0016961 True non-distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015715 MONDO:0010604 True severe hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015716 MONDO:0010604 True moderately severe hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015717 MONDO:0010604 True mild hemophilia B hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015719 MONDO:0010602 True severe hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015720 MONDO:0010602 True moderately severe hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015721 MONDO:0010602 True mild hemophilia A hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015722 MONDO:0021181 True congenital vitamin K-dependent coagulation factors deficiency inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015723 MONDO:0016933 True trisomy 12p partial trisomy/tetrasomy of the short arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015724 MONDO:0022177 True non-distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015726 MONDO:0016964 True distal trisomy 14q partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015728 MONDO:0017806 True distal trisomy 15q 15q overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0016193 True severe congenital nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0016194 True severe congenital nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015735 MONDO:0018958 True severe congenital nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0016193 True intermediate nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0016194 True intermediate nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015736 MONDO:0017303 True intermediate nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0016193 True typical nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0016194 True typical nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0017303 True typical nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015737 MONDO:0018958 True typical nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0016193 True childhood-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0016194 True childhood-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0017303 True childhood-onset nemaline myopathy qualitative or quantitative defects of tropomyosin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015738 MONDO:0018958 True childhood-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0016193 True adult-onset nemaline myopathy qualitative or quantitative defects of alpha-actin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0016194 True adult-onset nemaline myopathy qualitative or quantitative defects of nebulin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015739 MONDO:0018958 True adult-onset nemaline myopathy nemaline myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015740 MONDO:0016951 True trisomy 18p partial trisomy/tetrasomy of the short arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015741 MONDO:0016968 True distal trisomy 18q partial trisomy of the long arm of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015742 MONDO:0006741 True periventricular leukomalacia encephalomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015744 MONDO:0016969 True distal trisomy 19q partial duplication of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015746 MONDO:0018394 True male infertility due to globozoospermia male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015749 MONDO:0016905 True 6q16 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015749 MONDO:0018354 True 6q16 deletion syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015751 MONDO:0015338 True craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015755 MONDO:0019952 True myopathy with hexagonally cross-linked tubular arrays congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015756 MONDO:0005570 True myeloid hemopathy hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015758 MONDO:0015760 True primary cutaneous T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015758 MONDO:0018898 True primary cutaneous T-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015759 MONDO:0004095 True B-cell non-Hodgkin lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015759 MONDO:0018908 True B-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015760 MONDO:0018908 True T-cell non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015761 MONDO:0016947 True trisomy 10p partial duplication of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0017290 True progressive familial intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0017755 True progressive familial intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015766 MONDO:0000314 True cholera primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015767 MONDO:0016941 True trisomy 4p partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015768 MONDO:0016942 True trisomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015768 MONDO:0019716 True trisomy 5p overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015769 MONDO:0016943 True distal trisomy 6p partial duplication of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015770 MONDO:0019824 True congenital hypogonadotropic hypogonadism non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015772 MONDO:0016959 True trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015773 MONDO:0019054 True fibular dimelia-diplopodia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015775 MONDO:0019701 True non-rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015776 MONDO:0017986 True rhizomelic chondrodysplasia punctata disorder of plasmalogens biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015776 MONDO:0019701 True rhizomelic chondrodysplasia punctata chondrodysplasia punctata UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015779 MONDO:0001967 True 45,X/46,XY mixed gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015779 MONDO:0017975 True 45,X/46,XY mixed gonadal dysgenesis sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015780 MONDO:0015356 True dyskeratosis congenita hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015780 MONDO:0019287 True dyskeratosis congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0015781 MONDO:0015159 True facial dysmorphism-shawl scrotum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015783 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015784 MONDO:0020301 True Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal 15q11q13 deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015785 MONDO:0008300 True Prader-Willi syndrome due to translocation Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015786 MONDO:0008300 True Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015787 MONDO:0010602 True symptomatic form of hemophilia A in female carriers hemophilia A UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015788 MONDO:0010604 True symptomatic form of hemophilia B in female carriers hemophilia B UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015790 MONDO:0015127 True central diabetes insipidus pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015791 MONDO:0000088 True peripheral precocious puberty precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015792 MONDO:0018612 True transient congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015793 MONDO:0018948 True moderate multiminicore disease with hand involvement multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015794 MONDO:0018948 True antenatal multiminicore disease with arthrogryposis multiplex congenita multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015797 MONDO:0006025 True UV-sensitive syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015797 MONDO:0015951 True UV-sensitive syndrome hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015798 MONDO:0006424 True inflammatory myofibroblastic tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015800 MONDO:0015338 True osteosclerosis-developmental delay-craniosynostosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015803 MONDO:0016468 True wound botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015804 MONDO:0015805 True infant botulism intestinal botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015805 MONDO:0016468 True intestinal botulism toxin-mediated infectious botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015806 MONDO:0015805 True adult intestinal botulism intestinal botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015808 MONDO:0045071 True folliculotropic mycosis fungoides mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015809 MONDO:0045071 True localized pagetoid reticulosis mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015810 MONDO:0015816 True primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015811 MONDO:0015758 True primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015812 MONDO:0015758 True primary cutaneous gamma/delta-positive T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015813 MONDO:0015819 True primary cutaneous marginal zone B-cell lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015814 MONDO:0015819 True primary cutaneous follicle center lymphoma indolent primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015816 MONDO:0015758 True indolent primary cutaneous T-cell lymphoma primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015819 MONDO:0015820 True indolent primary cutaneous B-cell lymphoma primary cutaneous B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015819 MONDO:0017594 True indolent primary cutaneous B-cell lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015820 MONDO:0018898 True primary cutaneous B-cell lymphoma primary cutaneous lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015821 MONDO:0015816 True mycosis fungoides and variants indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015824 MONDO:0018234 True oculomaxillofacial dysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015830 MONDO:0019128 True partial bilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015831 MONDO:0019128 True unilateral aplasia of the mullerian ducts mullerian aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015832 MONDO:0015831 True true unicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015833 MONDO:0015831 True pseudounicornuate uterus unilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015834 MONDO:0015842 True didelphys uterus bicornuate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015835 MONDO:0015834 True Bicervical bicornuate uterus and blind hemivagina didelphys uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015836 MONDO:0015834 True Bicervical bicornuate uterus with patent cervix and vagina didelphys uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015840 MONDO:0015839 True complete septate uterus septate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015841 MONDO:0015839 True partial septate uterus septate uterus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015850 MONDO:0021147 True transverse vaginal septum disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015864 MONDO:0006290 True mixed germ cell tumor malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015867 MONDO:0001402 True vaginal carcinoma vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015867 MONDO:0004993 True vaginal carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015871 MONDO:0000620 True benign breast phyllodes tumor breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015871 MONDO:0021047 True benign breast phyllodes tumor breast phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015871 MONDO:0037002 True benign breast phyllodes tumor benign phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015873 MONDO:0002648 True Paget disease of the nipple mammary Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015873 MONDO:0003950 True Paget disease of the nipple nipple carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015883 MONDO:0019287 True hidrotic ectodermal dysplasia, Halal type ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015884 MONDO:0016535 True autosomal dominant hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015892 MONDO:0015514 True growth hormone insensitivity syndrome hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015905 MONDO:0002525 True syndromic dyslipidemia inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015908 MONDO:0000255 True chromomycosis subcutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015909 MONDO:0002280 True aplastic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015912 MONDO:0000009 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0015912 MONDO:0018795 True macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015925 MONDO:0005275 True interstitial lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015926 MONDO:0015925 True pneumoconiosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015929 MONDO:0020001 True thoracic malformation respiratory or thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015941 MONDO:0015159 True epiphyseal dysplasia-hearing loss-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015942 MONDO:0018233 True frontometaphyseal dysplasia otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015947 MONDO:0019269 True inherited ichthyosis ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015974 MONDO:0015131 True severe combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015977 MONDO:0002211 True agammaglobulinemia B cell deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015986 MONDO:0018470 True bilateral renal agenesis renal agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015987 MONDO:0020292 True scimitar syndrome congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015990 MONDO:0015494 True focal, segmental or multifocal dystonia isolated dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015991 MONDO:0004739 True citrullinemia urea cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015993 MONDO:0019118 True cone-rod dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015995 MONDO:0018230 True melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016002 MONDO:0006025 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0016003 MONDO:0000314 True ehrlichiosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016004 MONDO:0016677 True aminopterin/methotrexate embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016005 MONDO:0016677 True indomethacin embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016006 MONDO:0006025 True Cockayne syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016006 MONDO:0015333 True Cockayne syndrome progeroid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016007 MONDO:0016677 True cocaine embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016008 MONDO:0016677 True fetal hydantoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016009 MONDO:0016677 True fetal trimethadione syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016010 MONDO:0016677 True vitamin K-antagonist embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016011 MONDO:0000408 True fetal alcohol syndrome fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016011 MONDO:0016677 True fetal alcohol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016012 MONDO:0016677 True diethylstilbestrol syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016013 MONDO:0016677 True fetal methylmercury syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016014 MONDO:0016677 True fetal minoxidil syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016015 MONDO:0016677 True phenobarbital embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016016 MONDO:0016677 True toluene embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016017 MONDO:0016677 True methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016020 MONDO:0016057 True frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016022 MONDO:0000412 True early myoclonic encephalopathy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016022 MONDO:0016801 True early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016025 MONDO:0020072 True myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016026 MONDO:0020071 True infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016027 MONDO:0000412 True benign neonatal seizures neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016027 MONDO:0020070 True benign neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016029 MONDO:0016713 True esthesioneuroblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0004680 True Evans syndrome primary thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016030 MONDO:0019098 True Evans syndrome autoimmune thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016030 MONDO:0020108 True Evans syndrome autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016031 MONDO:0015161 True facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016032 MONDO:0018234 True femoral agenesis/hypoplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016032 MONDO:0019713 True femoral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016033 MONDO:0003847 True Cornelia de Lange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016033 MONDO:0015159 True Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016033 MONDO:0018234 True Cornelia de Lange syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016033 MONDO:0019054 True Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016035 MONDO:0003429 True Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016037 MONDO:0005031 True superficial Fibromatosis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016038 MONDO:0005167 True calcified aponeurotic fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016038 MONDO:0016037 True calcified aponeurotic fibroma superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016039 MONDO:0016037 True infantile digital fibromatosis superficial Fibromatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016042 MONDO:0019832 True late-onset isolated ACTH deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016044 MONDO:0021147 True cleft lip/palate disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016045 MONDO:0017975 True tetragametic chimerism sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016046 MONDO:0019054 True familial clubfoot with or without associated lower limb anomalies congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016049 MONDO:0016145 True congenital myopathy, Paradas type qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016049 MONDO:0019950 True congenital myopathy, Paradas type congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016051 MONDO:0015161 True cleft lip-retinopathy syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016052 MONDO:0000594 True atypical autism pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016053 MONDO:0020022 True isolated cerebellar vermis hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016056 MONDO:0001149 True isolated congenital microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016057 MONDO:0017078 True isolated encephalocele cephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016058 MONDO:0020065 True paroxysmal dystonia combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016062 MONDO:0015411 True median cleft lip/mandibule facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016064 MONDO:0000358 True cleft palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016064 MONDO:0019755 True cleft palate developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016065 MONDO:0015159 True cleft palate-short stature-vertebral anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016066 MONDO:0015929 True sternal cleft thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016068 MONDO:0005516 True fibrochondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016068 MONDO:0018230 True fibrochondrogenesis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016070 MONDO:0002507 True hereditary gingival fibromatosis gingival overgrowth UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016071 MONDO:0009229 True juvenile hyaline fibromatosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016073 MONDO:0021129 True syndromic microphthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016075 MONDO:0004664 True filariasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016077 MONDO:0016581 True congenital aortopulmonary window conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016078 MONDO:0020296 True congenital systemic arteriovenous fistula congenital arteriovenous fistula UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016081 MONDO:0015203 True coronary arterial fistulas coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016085 MONDO:0015161 True Cole-Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016085 MONDO:0018230 True Cole-Carpenter syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016086 MONDO:0018381 True osteochondritis of tarsal/metatarsal bone osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016087 MONDO:0015161 True progressive non-infectious anterior vertebral fusion multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016087 MONDO:0018234 True progressive non-infectious anterior vertebral fusion dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016088 MONDO:0019236 True hypoxanthine-guanine phosphoribosyltransferase deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016089 MONDO:0009499 True infantile Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016090 MONDO:0009499 True late-infantile/juvenile Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016091 MONDO:0009499 True adult Krabbe disease Krabbe disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016091 MONDO:0020143 True adult Krabbe disease cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016093 MONDO:0002229 True borderline epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016095 MONDO:0002140 True vaginal rhabdomyosarcoma vagina sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016095 MONDO:0005212 True vaginal rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016096 MONDO:0003408 True malignant non-dysgerminomatous germ cell tumor of ovary ovarian primitive germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016096 MONDO:0021656 True malignant non-dysgerminomatous germ cell tumor of ovary nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016097 MONDO:0016106 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016097 MONDO:0016333 True symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016098 MONDO:0020122 True immune-mediated necrotizing myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016099 MONDO:0020122 True overlap myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016103 MONDO:0016146 True isolated asymptomatic elevation of creatine phosphokinase caveolinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016103 MONDO:0016147 True isolated asymptomatic elevation of creatine phosphokinase qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016105 MONDO:0020120 True acquired skeletal muscle disease skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016106 MONDO:0020121 True progressive muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016107 MONDO:0016106 True myotonic dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016107 MONDO:0016120 True myotonic dystrophy myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016108 MONDO:0018949 True autosomal dominant distal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016120 MONDO:0020120 True myotonic syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016129 MONDO:0002269 True eosinophilic gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016129 MONDO:0018438 True eosinophilic gastroenteritis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016140 MONDO:0016139 True sarcoglycanopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016141 MONDO:0016140 True qualitative or quantitative defects of alpha-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016142 MONDO:0016140 True qualitative or quantitative defects of beta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016143 MONDO:0016140 True qualitative or quantitative defects of gamma-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016144 MONDO:0016140 True qualitative or quantitative defects of delta-sarcoglycan sarcoglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016145 MONDO:0016139 True qualitative or quantitative defects of dysferlin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016146 MONDO:0016139 True caveolinopathy qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016147 MONDO:0016139 True qualitative or quantitative defects of dystrophin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016151 MONDO:0016139 True qualitative or quantitative defects of perlecan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016153 MONDO:0016139 True qualitative or quantitative defects of TRIM32 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016155 MONDO:0018282 True qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan qualitative or quantitative defects of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016156 MONDO:0016155 True qualitative or quantitative defects of FKRP qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016158 MONDO:0021107 True narcolepsy-cataplexy syndrome narcolepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016159 MONDO:0020047 True Gemignani syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016160 MONDO:0015653 True X-linked intellectual disability-epilepsy syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016162 MONDO:0017091 True bilateral frontal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016163 MONDO:0020380 True autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0016167 MONDO:0016749 True optic pathway glioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016167 MONDO:0021042 True optic pathway glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016168 MONDO:0017953 True cryopyrin-associated periodic syndrome hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016175 MONDO:0002051 True cutis laxa integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016175 MONDO:0019755 True cutis laxa developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016176 MONDO:0015923 True axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016184 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 1 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016185 MONDO:0016155 True qualitative or quantitative defects of protein O-mannosyltransferase 2 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016186 MONDO:0016139 True qualitative or quantitative defects of myofibrillar proteins qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016187 MONDO:0016186 True qualitative or quantitative defects of desmin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016188 MONDO:0016186 True qualitative or quantitative defects of alphaB-cristallin qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016189 MONDO:0016186 True qualitative or quantitative defects of filamin C qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016190 MONDO:0016186 True qualitative or quantitative defects of protein ZASP qualitative or quantitative defects of myofibrillar proteins UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016191 MONDO:0016139 True qualitative or quantitative defects of titin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016192 MONDO:0016139 True qualitative or quantitative defects of telethonin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016193 MONDO:0016139 True qualitative or quantitative defects of alpha-actin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016194 MONDO:0016139 True qualitative or quantitative defects of nebulin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016195 MONDO:0016139 True qualitative or quantitative defects of beta-myosin heavy chain (MYH7) qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016197 MONDO:0016139 True qualitative or quantitative defects of selenoprotein N1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016198 MONDO:0016139 True qualitative or quantitative defects of plectin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016199 MONDO:0016139 True qualitative or quantitative defects of protein SERCA1 qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016203 MONDO:0019218 True hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016207 MONDO:0017634 True phacoanaphylactic uveitis non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016209 MONDO:0016210 True benign familial nocturnal alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016213 MONDO:0019289 True leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016214 MONDO:0015925 True pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016215 MONDO:0000396 True spastic quadriplegic cerebral palsy spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016216 MONDO:0007256 True adult hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016218 MONDO:0000590 True Guillain-Barre syndrome autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016219 MONDO:0015161 True dysmorphism-pectus carinatum-joint laxity syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016222 MONDO:0006500 True spindle cell hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016226 MONDO:0016225 True specific language disorder specific learning disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016227 MONDO:0100309 True hereditary episodic ataxia hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016236 MONDO:0006424 True kaposiform hemangioendothelioma soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016236 MONDO:0021121 True kaposiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016238 MONDO:0006209 True solitary fibrous tumor fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016239 MONDO:0019246 True cystinosis inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016240 MONDO:0018234 True hemimelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016240 MONDO:0019713 True hemimelia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016241 MONDO:0001170 True alternating hemiplegia of childhood hemiplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016241 MONDO:0016210 True alternating hemiplegia of childhood alternating hemiplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016242 MONDO:0002280 True hemoglobin C disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016242 MONDO:0019050 True hemoglobin C disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016243 MONDO:0002280 True hemoglobin E disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016243 MONDO:0019050 True hemoglobin E disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016244 MONDO:0003832 True atypical hemolytic-uremic syndrome complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016244 MONDO:0019737 True atypical hemolytic-uremic syndrome thrombotic microangiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016244 MONDO:0957097 True atypical hemolytic-uremic syndrome hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016255 MONDO:0021043 True uterine corpus mixed epithelial and mesenchymal neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016255 MONDO:0021254 True uterine corpus mixed epithelial and mesenchymal neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016256 MONDO:0015159 True Hennekam syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016258 MONDO:0002879 True uterine corpus carcinofibroma uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016259 MONDO:0002879 True carcinosarcoma of the corpus uteri uterine body mixed cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016259 MONDO:0006485 True carcinosarcoma of the corpus uteri uterine carcinosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016260 MONDO:0005210 True uterine corpus rhabdomyosarcoma uterine corpus sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016260 MONDO:0005212 True uterine corpus rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016262 MONDO:0005058 True leiomyosarcoma of the corpus uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016262 MONDO:0005210 True leiomyosarcoma of the corpus uteri uterine corpus sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016264 MONDO:0000588 True autoimmune hepatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016281 MONDO:0002145 True 46,XX ovotesticular disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016282 MONDO:0005212 True rhabdomyosarcoma of the cervix uteri rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016282 MONDO:0016280 True rhabdomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016283 MONDO:0005058 True leiomyosarcoma of the cervix uteri leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016283 MONDO:0016280 True leiomyosarcoma of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016284 MONDO:0016280 True primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016290 MONDO:0015159 True Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016291 MONDO:0015338 True craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016293 MONDO:0004587 True congenital stationary night blindness hereditary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016294 MONDO:0015161 True Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016295 MONDO:0019245 True neuronal ceroid lipofuscinosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016295 MONDO:0024237 True neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0002254 True holoprosencephaly syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016296 MONDO:0002320 True holoprosencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016296 MONDO:0015159 True holoprosencephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0018762 True holoprosencephaly non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016299 MONDO:0020022 True holoprosencephaly-caudal dysgenesis syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016301 MONDO:0000153 True congenitally corrected transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016302 MONDO:0019443 True isolated congenitally uncorrected transposition of the great arteries dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016303 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with cardiac malformation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016304 MONDO:0009319 True classic pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016305 MONDO:0009319 True atypical pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016306 MONDO:0018982 True Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016307 MONDO:0018982 True Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016308 MONDO:0018982 True Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016309 MONDO:0018982 True Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016310 MONDO:0018982 True Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016311 MONDO:0019293 True Bockenheimer syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016315 MONDO:0010674 True mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016316 MONDO:0010674 True mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016319 MONDO:0015364 True congenital insensitivity to pain with hyperhidrosis hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016321 MONDO:0017019 True pulmonary interstitial glycogenosis interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016322 MONDO:0017019 True neuroendocrine cell hyperplasia of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016330 MONDO:0005045 True non-familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016331 MONDO:0009229 True infantile systemic hyalinosis hyaline fibromatosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016333 MONDO:0005021 True familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016338 MONDO:0005021 True non-familial dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016340 MONDO:0005201 True familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016342 MONDO:0016587 True familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016344 MONDO:0000819 True hydranencephaly anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016344 MONDO:0017103 True hydranencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016345 MONDO:0005201 True non-familial restrictive cardiomyopathy restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0021147 True congenital hydrocephalus disorder of development or morphogenesis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016354 MONDO:0015951 True xeroderma pigmentosum-Cockayne syndrome complex hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016356 MONDO:0005100 True diffuse cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016358 MONDO:0005100 True limited cutaneous systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016359 MONDO:0005100 True limited systemic sclerosis systemic sclerosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016360 MONDO:0018795 True marcothrombocytopenia with mitral valve insufficiency syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0015369 True Joubert syndrome with ocular defect Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016364 MONDO:0020022 True Joubert syndrome with ocular defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016365 MONDO:0016166 True familial primary hyperparathyroidism hereditary hyperparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016368 MONDO:0010002 True Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016369 MONDO:0010002 True Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016371 MONDO:0016374 True combined hyperactive dysfunction syndrome of the cranial nerves cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016372 MONDO:0002639 True glossopharyngeal neuralgia glossopharyngeal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016372 MONDO:0016374 True glossopharyngeal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016374 MONDO:0015923 True cranial neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016380 MONDO:0019280 True acquired hypertrichosis lanuginosa hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016381 MONDO:0019280 True hypertrichosis lanuginosa congenita hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016381 MONDO:0019287 True hypertrichosis lanuginosa congenita ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0016382 MONDO:0019268 True hereditary poikiloderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016383 MONDO:0001343 True nephrogenic diabetes insipidus impaired renal function disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016383 MONDO:0004782 True nephrogenic diabetes insipidus diabetes insipidus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016383 MONDO:0015962 True nephrogenic diabetes insipidus inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016384 MONDO:0015770 True hypogonadotropic hypogonadism-frontoparietal alopecia syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016386 MONDO:0015770 True hypogonadotropic hypogonadism-retinitis pigmentosa syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016387 MONDO:0004069 True mitochondrial oxidative phosphorylation disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016390 MONDO:0016165 True familial hypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016391 MONDO:0015967 True neonatal diabetes mellitus monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016393 MONDO:0015770 True hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016394 MONDO:0015518 True sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0016113 True pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0020135 True pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016396 MONDO:0024257 True pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016408 MONDO:0015514 True permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016408 MONDO:0018612 True permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016410 MONDO:0016408 True central congenital hypothyroidism permanent congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016411 MONDO:0016410 True hypothyroidism due to deficient transcription factors involved in pituitary development or function central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016413 MONDO:0016555 True congenital hypothyroidism due to maternal intake of antithyroid drugs transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016418 MONDO:0007803 True multiple system atrophy, cerebellar type multiple system atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016419 MONDO:0004989 True hereditary breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016422 MONDO:0017278 True autoimmune polyendocrinopathy type 3 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016423 MONDO:0017278 True autoimmune polyendocrinopathy type 4 autoimmune polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016424 MONDO:0005045 True progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016426 MONDO:0002312 True fusariosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016430 MONDO:0002562 True Balo concentric sclerosis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016431 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016432 MONDO:0018234 True heart-hand syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016432 MONDO:0019054 True heart-hand syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016433 MONDO:0015159 True dysmorphism-short stature-deafness-disorder of sex development syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016433 MONDO:0020040 True dysmorphism-short stature-deafness-disorder of sex development syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016440 MONDO:0006209 True elastofibroma dorsi fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016450 MONDO:0020108 True autoimmune hemolytic anemia, cold type autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016453 MONDO:0005498 True foodborne botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016456 MONDO:0015159 True 5q14.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016456 MONDO:0016904 True 5q14.3 microdeletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016458 MONDO:0016959 True 8q12 microduplication syndrome partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016459 MONDO:0016901 True 2q23.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016461 MONDO:0016956 True 5q35 microduplication syndrome partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016462 MONDO:0015977 True isolated agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016463 MONDO:0015977 True syndromic agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016466 MONDO:0015926 True asbestosis pneumoconiosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016467 MONDO:0016677 True isotretinoin syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016468 MONDO:0005498 True toxin-mediated infectious botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016471 MONDO:0017672 True pachyonychia congenita focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016472 MONDO:0016075 True dracunculiasis filariasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016473 MONDO:0015356 True familial rhabdoid tumor hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016474 MONDO:0004670 True drug-induced lupus erythematosus lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016475 MONDO:0007534 True Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016476 MONDO:0007534 True Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016477 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016477 MONDO:0016893 True Beckwith-Wiedemann syndrome due to 11p15 microdeletion partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016478 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016479 MONDO:0008394 True silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016479 MONDO:0016944 True silver-Russell syndrome due to 7p11.2p13 microduplication partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016480 MONDO:0008394 True silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016481 MONDO:0008394 True silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016481 MONDO:0016948 True silver-Russell syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016482 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016483 MONDO:0005291 True intracranial berry aneurysm brain aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016484 MONDO:0019501 True Usher syndrome type 2 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016485 MONDO:0019501 True Usher syndrome type 3 Usher syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016489 MONDO:0017145 True delta-beta-thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016490 MONDO:0017145 True hemoglobin C-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016491 MONDO:0017145 True hemoglobin E-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016496 MONDO:0016218 True pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016497 MONDO:0016218 True paraparetic variant of Guillain-Barre syndrome Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016498 MONDO:0016218 True acute pure sensory neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016499 MONDO:0016218 True acute pandysautonomia Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016500 MONDO:0016218 True acute sensory ataxic neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016501 MONDO:0017014 True Hermansky-Pudlak syndrome with pulmonary fibrosis interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016501 MONDO:0019312 True Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016502 MONDO:0019312 True Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016503 MONDO:0019268 True congenital erosive and vesicular dermatosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016505 MONDO:0003924 True aldosterone-producing adrenal cortex adenoma adrenal cortex adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016511 MONDO:0019755 True infectious embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016512 MONDO:0002254 True Kabuki syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016512 MONDO:0015159 True Kabuki syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016514 MONDO:0017610 True epidermolysis bullosa simplex with anodontia/hypodontia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016515 MONDO:0015770 True Kallmann syndrome-heart disease syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016516 MONDO:0002254 True Kenny-Caffey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016527 MONDO:0002412 True glycogen storage disease due to lactate dehydrogenase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016532 MONDO:0000414 True Lennox-Gastaut syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016532 MONDO:0020072 True Lennox-Gastaut syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016533 MONDO:0007099 True apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016534 MONDO:0019835 True infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016537 MONDO:0003778 True lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016539 MONDO:0011669 True atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016540 MONDO:0020115 True congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016541 MONDO:0020115 True acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016542 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016544 MONDO:0017287 True IgG4-related mesenteritis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016547 MONDO:0007534 True Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016549 MONDO:0018960 True primary megaureter, adult-onset form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016550 MONDO:0018960 True congenital primary megaureter, obstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016551 MONDO:0018960 True congenital primary megaureter, refluxing form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016552 MONDO:0018960 True congenital primary megaureter, nonrefluxing and unobstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016553 MONDO:0015770 True isolated congenital hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016555 MONDO:0015792 True transient congenital hypothyroidism due to maternal factor transient congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016556 MONDO:0015792 True transient congenital hypothyroidism due to neonatal factor transient congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016557 MONDO:0019284 True leukonychia totalis inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016558 MONDO:0005395 True familial congenital mirror movements movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016559 MONDO:0018174 True glaucoma secondary to spherophakia/ectopia lentis and megalocornea hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016561 MONDO:0022756 True 1q44 microdeletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016562 MONDO:0020488 True progressive supranuclear palsy-pure akinesia with gait freezing syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016563 MONDO:0020488 True progressive supranuclear palsy-corticobasal syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016564 MONDO:0020488 True progressive supranuclear palsy-progressive non-fluent aphasia syndrome atypical progressive supranuclear palsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016566 MONDO:0016075 True loiasis filariasis SUPPORTED SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016567 MONDO:0005071 True locked-in syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016570 MONDO:0017207 True primary pulmonary lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0015159 True macrocephaly-short stature-paraplegia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0020022 True macrocephaly-short stature-paraplegia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016574 MONDO:0019288 True hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016575 MONDO:0002254 True primary ciliary dyskinesia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016575 MONDO:0005308 True primary ciliary dyskinesia ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016576 MONDO:0018234 True split hand-foot malformation dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016581 MONDO:0019512 True conotruncal heart malformations congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016582 MONDO:0019512 True congenital mitral malformation congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0015161 True mandibuloacral dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0019707 True mandibuloacral dysplasia primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0020087 True mandibuloacral dysplasia hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016586 MONDO:0007950 True systemic mastocytosis mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016587 MONDO:0000591 True arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016595 MONDO:0005119 True inhalational anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016596 MONDO:0015327 True hyperphosphatasia-intellectual disability syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0017748 True hyperphosphatasia-intellectual disability syndrome inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0019054 True hyperphosphatasia-intellectual disability syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016598 MONDO:0016540 True autosomal recessive secondary polycythemia not associated with VHL gene congenital secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016600 MONDO:0008988 True acute neonatal citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016601 MONDO:0008988 True adult-onset citrullinemia type I citrullinemia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016602 MONDO:0015991 True citrin deficiency citrullinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016603 MONDO:0016602 True citrullinemia type II citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016605 MONDO:0018570 True perinatal lethal hypophosphatasia hypophosphatasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016607 MONDO:0018570 True odontohypophosphatasia hypophosphatasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016609 MONDO:0020122 True inflammatory myopathy with abundant macrophages acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016610 MONDO:0020122 True idiopathic eosinophilic myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016611 MONDO:0044983 True lipoblastoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016612 MONDO:0000425 True X-linked cerebellar ataxia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016614 MONDO:0020044 True autosomal recessive ataxia due to PEX10 deficiency autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016619 MONDO:0016535 True autosomal recessive hypohidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016620 MONDO:0002254 True primary hypertrophic osteoarthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016622 MONDO:0018234 True Melhem-Fahl syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016641 MONDO:0018234 True limb transversal defect-cardiac anomaly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016641 MONDO:0019054 True limb transversal defect-cardiac anomaly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016642 MONDO:0016743 True meningioma tumor of meninges UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016643 MONDO:0018234 True frontonasal dysplasia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016644 MONDO:0019806 True logopenic progressive aphasia primary progressive aphasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016646 MONDO:0016387 True autosomal dominant optic atrophy and peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016646 MONDO:0020250 True autosomal dominant optic atrophy and peripheral neuropathy autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016648 MONDO:0005516 True multiple epiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016648 MONDO:0018230 True multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016649 MONDO:0006025 True Warburg micro syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016649 MONDO:0015159 True Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016649 MONDO:0018838 True Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0016652 MONDO:0016901 True 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016653 MONDO:0016901 True 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016655 MONDO:0016888 True 6p22 microdeletion syndrome partial deletion of the short arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016656 MONDO:0016906 True 7q31 microdeletion syndrome partial deletion of the long arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016657 MONDO:0016890 True 8p11.2 deletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016658 MONDO:0016890 True 8p23.1 microdeletion syndrome partial deletion of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016659 MONDO:0016945 True 8p23.1 duplication syndrome partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016660 MONDO:0006025 True autosomal recessive primary microcephaly autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016660 MONDO:0016056 True autosomal recessive primary microcephaly isolated congenital microcephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016661 MONDO:0019751 True infantile onset panniculitis with uveitis and systemic granulomatosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016662 MONDO:0019751 True idiopathic recurrent pericarditis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016664 MONDO:0018640 True drug-induced vasculitis secondary vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016668 MONDO:0019050 True sickle cell-beta-thalassemia disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016670 MONDO:0019050 True sickle cell-hemoglobin d disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016671 MONDO:0019050 True sickle cell-hemoglobin E disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016672 MONDO:0019050 True hereditary persistence of fetal hemoglobin-sickle cell disease syndrome inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016674 MONDO:0020040 True 46,XY partial gonadal dysgenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016675 MONDO:0019942 True distal arthrogryposis type 10 distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0016676 MONDO:0017764 True recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016677 MONDO:0019755 True toxic or drug-related embryofetopathy developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016680 MONDO:0021636 True high grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016680 MONDO:0100342 True high grade astrocytic tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016683 MONDO:0016680 True gliomatosis cerebri high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016684 MONDO:0016680 True anaplastic astrocytoma high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016684 MONDO:0019781 True anaplastic astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016684 MONDO:0020633 True anaplastic astrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016686 MONDO:0016685 True diffuse astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016686 MONDO:0021639 True diffuse astrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016687 MONDO:0016686 True protoplasmic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016688 MONDO:0016686 True fibrillary astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016689 MONDO:0016686 True gemistocytic astrocytoma diffuse astrocytoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016690 MONDO:0016685 True pleomorphic xanthoastrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016691 MONDO:0016685 True pilocytic astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016692 MONDO:0016691 True pilomyxoid astrocytoma pilocytic astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016693 MONDO:0007667 True subependymal giant cell astrocytoma subependymoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016693 MONDO:0016685 True subependymal giant cell astrocytoma low-grade astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016695 MONDO:0018744 True oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016695 MONDO:0021639 True oligodendroglioma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016696 MONDO:0018744 True anaplastic oligodendroglioma oligodendroglial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016696 MONDO:0020633 True anaplastic oligodendroglioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016696 MONDO:0021640 True anaplastic oligodendroglioma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016698 MONDO:0003266 True ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016698 MONDO:0021639 True ependymoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016699 MONDO:0003266 True myxopapillary ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016700 MONDO:0003266 True anaplastic ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016700 MONDO:0020633 True anaplastic ependymoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016700 MONDO:0021640 True anaplastic ependymoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016702 MONDO:0003268 True oligoastrocytoma mixed glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016702 MONDO:0021639 True oligoastrocytoma grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016703 MONDO:0005853 True anaplastic oligoastrocytoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016703 MONDO:0020633 True anaplastic oligoastrocytoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016703 MONDO:0021640 True anaplastic oligoastrocytoma grade III glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016705 MONDO:0021637 True angiocentric glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016706 MONDO:0002682 True chordoid glioma of the third ventricle cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016707 MONDO:0021042 True astroblastoma glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016709 MONDO:0007959 True anaplastic/large cell medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016710 MONDO:0007959 True medulloblastoma with extensive nodularity medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016711 MONDO:0007959 True desmoplastic/nodular medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016712 MONDO:0007959 True classic medulloblastoma medulloblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016713 MONDO:0002714 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016713 MONDO:0021038 True central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016715 MONDO:0000640 True ependymoblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016717 MONDO:0021211 True choroid plexus neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016718 MONDO:0002681 True choroid plexus carcinoma choroid plexus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016718 MONDO:0004993 True choroid plexus carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016719 MONDO:0015159 True microcephaly-seizures-intellectual disability-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016722 MONDO:0003249 True pineoblastoma pineal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016722 MONDO:0005564 True pineoblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016723 MONDO:0000627 True pineocytoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016723 MONDO:0021451 True pineocytoma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016723 MONDO:0024890 True pineocytoma pineal parenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016724 MONDO:0021193 True papillary tumor of the pineal region neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016724 MONDO:0021232 True papillary tumor of the pineal region pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016727 MONDO:0016729 True extraventricular neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016729 MONDO:0021193 True mixed neuronal-glial tumor neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016730 MONDO:0016729 True gangliocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016731 MONDO:0016729 True desmoplastic infantile astrocytoma/ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016733 MONDO:0016729 True ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016735 MONDO:0016729 True papillary glioneuronal tumor mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016736 MONDO:0016729 True rosette-forming glioneuronal tumor of fourth ventricule mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016739 MONDO:0005744 True yolk sac tumor of central nervous system yolk sac tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016740 MONDO:0002714 True choriocarcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016740 MONDO:0003578 True choriocarcinoma of the central nervous system extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016740 MONDO:0005207 True choriocarcinoma of the central nervous system choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016740 MONDO:0020574 True choriocarcinoma of the central nervous system central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016742 MONDO:0002714 True mixed germ cell tumor of central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016742 MONDO:0003000 True mixed germ cell tumor of central nervous system central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016743 MONDO:0006130 True tumor of meninges central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016745 MONDO:0016743 True diffuse leptomeningeal melanocytosis tumor of meninges UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016746 MONDO:0003222 True meningeal melanocytoma central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016747 MONDO:0003222 True primary melanoma of the central nervous system central nervous system melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016747 MONDO:0006320 True primary melanoma of the central nervous system non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016750 MONDO:0015159 True microcephaly-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016751 MONDO:0021089 True malignant perineurioma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016752 MONDO:0016749 True benign peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016755 MONDO:0002547 True neurofibroma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016755 MONDO:0016752 True neurofibroma benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016759 MONDO:0016113 True pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016759 MONDO:0020135 True pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016759 MONDO:0024257 True pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016760 MONDO:0015159 True microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016761 MONDO:0005516 True spondyloepiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016763 MONDO:0018230 True spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016765 MONDO:0016897 True 19p13.12 microdeletion syndrome partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016776 MONDO:0004907 True frontal fibrosing alopecia alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016777 MONDO:0005498 True inhalational botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016778 MONDO:0005498 True iatrogenic botulism botulism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016779 MONDO:0015159 True multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016780 MONDO:0014541 True paternal 14q32.2 microdeletion syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016780 MONDO:0016912 True paternal 14q32.2 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016781 MONDO:0016779 True maternal 14q32.2 microdeletion syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016782 MONDO:0014541 True paternal 14q32.2 hypomethylation syndrome motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016783 MONDO:0016779 True maternal 14q32.2 hypermethylation syndrome multiple congenital anomalies due to 14q32.2 maternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016785 MONDO:0006248 True complete hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016786 MONDO:0006248 True partial hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016787 MONDO:0018944 True epithelioid trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016789 MONDO:0019243 True pyruvate metabolism disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016790 MONDO:0019243 True tricarboxylic acid cycle disorder inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016796 MONDO:0018158 True mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016798 MONDO:0016387 True ataxia neuropathy spectrum mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016800 MONDO:0004069 True mitochondrial membrane transport disorder inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016801 MONDO:0016800 True mitochondrial substrate carrier disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016802 MONDO:0016800 True mitochondrial protein import disorder mitochondrial membrane transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016806 MONDO:0016387 True maternally-inherited mitochondrial dystonia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016810 MONDO:0005181 True autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016817 MONDO:0002254 True Meier-Gorlin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016819 MONDO:0015770 True Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016820 MONDO:0006693 True Moyamoya disease cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016823 MONDO:0005550 True mycetoma infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016824 MONDO:0003342 True infantile myofibromatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016825 MONDO:0009637 True mitochondrial myopathy-lactic acidosis-deafness syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0016624 True methylmalonic aciduria and homocystinuria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0019215 True methylmalonic aciduria and homocystinuria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016826 MONDO:0019220 True methylmalonic aciduria and homocystinuria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016828 MONDO:0020099 True autosomal recessive sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016830 MONDO:0016106 True Emery-Dreifuss muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016830 MONDO:0016333 True Emery-Dreifuss muscular dystrophy familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0016833 MONDO:0016912 True 14q12 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016834 MONDO:0016949 True 16p11.2p12.2 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016835 MONDO:0016964 True 14q11.2 microduplication syndrome partial duplication of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016836 MONDO:0016894 True 16p13.11 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016837 MONDO:0016949 True 16p13.11 microduplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016838 MONDO:0016914 True 16q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016839 MONDO:0022754 True distal 17p13.3 microdeletion syndrome chromosome 17p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016840 MONDO:0016950 True trisomy 17p partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016841 MONDO:0016898 True 20p12.3 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016842 MONDO:0016918 True paternal 20q13.2q13.3 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016843 MONDO:0016918 True 20q13.33 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016844 MONDO:0016938 True trisomy 20p partial trisomy of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016845 MONDO:0016919 True 21q22.11q22.12 microdeletion syndrome partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016847 MONDO:0016952 True trisomy 1q partial duplication of the long arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016850 MONDO:0017004 True atypical Norrie disease due to monosomy Xp11.3 partial monosomy of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016855 MONDO:0009341 True Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016855 MONDO:0016901 True Mowat-Wilson syndrome due to monosomy 2q22 partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016856 MONDO:0009341 True Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016860 MONDO:0016904 True familial adenomatous polyposis due to 5q22.2 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016860 MONDO:0021055 True familial adenomatous polyposis due to 5q22.2 microdeletion classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016861 MONDO:0007318 True Alagille syndrome due to 20p12 microdeletion Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016861 MONDO:0016898 True Alagille syndrome due to 20p12 microdeletion partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016862 MONDO:0007318 True Alagille syndrome due to a JAG1 point mutation Alagille syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0016863 MONDO:0011812 True Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016863 MONDO:0016918 True Okihiro syndrome due to 20q13 microdeletion partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016864 MONDO:0011812 True Okihiro syndrome due to a point mutation Duane-radial ray syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016865 MONDO:0012455 True Kleefstra syndrome due to a point mutation Kleefstra syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016877 MONDO:0017277 True partial deletion of the long arm of chromosome 12 partial deletion of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016883 MONDO:0016866 True partial deletion of the short arm of chromosome 1 partial deletion of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016884 MONDO:0016867 True partial deletion of the short arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016885 MONDO:0016868 True partial deletion of the short arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016887 MONDO:0016870 True partial deletion of the short arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016888 MONDO:0016871 True partial deletion of the short arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016889 MONDO:0016872 True partial deletion of the short arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016890 MONDO:0016873 True partial deletion of the short arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016892 MONDO:0016875 True partial deletion of the short arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016893 MONDO:0016876 True partial deletion of the short arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016894 MONDO:0016878 True partial deletion of the short arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016897 MONDO:0016881 True partial deletion of the short arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016898 MONDO:0016882 True partial monosomy of the short arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016901 MONDO:0016867 True partial deletion of the long arm of chromosome 2 partial deletion of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016902 MONDO:0016868 True partial deletion of the long arm of chromosome 3 partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016903 MONDO:0016869 True partial deletion of the long arm of chromosome 4 partial deletion of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016904 MONDO:0016870 True partial deletion of the long arm of chromosome 5 partial deletion of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016905 MONDO:0016871 True partial deletion of the long arm of chromosome 6 partial deletion of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016906 MONDO:0016872 True partial deletion of the long arm of chromosome 7 partial deletion of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016907 MONDO:0016873 True partial deletion of the long arm of chromosome 8 partial deletion of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016908 MONDO:0016874 True partial monosomy of the long arm of chromosome 9 partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016909 MONDO:0016875 True partial monosomy of the long arm of chromosome 10 partial deletion of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016910 MONDO:0016876 True partial deletion of the long arm of chromosome 11 partial deletion of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016914 MONDO:0016878 True partial deletion of the long arm of chromosome 16 partial deletion of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016915 MONDO:0016879 True partial deletion of the long arm of chromosome 17 partial deletion of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016917 MONDO:0016881 True partial deletion of the long arm of chromosome 19 partial deletion of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016918 MONDO:0016882 True partial deletion of the long arm of chromosome 20 partial deletion of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016939 MONDO:0016922 True partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016940 MONDO:0016923 True partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016941 MONDO:0016924 True partial duplication of the short arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016942 MONDO:0016925 True partial trisomy/tetrasomy of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016943 MONDO:0016927 True partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016944 MONDO:0016928 True partial duplication of the short arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016945 MONDO:0016929 True partial duplication of the short arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016947 MONDO:0016931 True partial duplication of the short arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016948 MONDO:0016932 True partial duplication of the short arm of chromosome 11 partial duplication of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016949 MONDO:0016934 True partial duplication of the short arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016950 MONDO:0016935 True partial duplication of the short arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016951 MONDO:0016936 True partial trisomy/tetrasomy of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016952 MONDO:0016921 True partial duplication of the long arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016953 MONDO:0016922 True partial duplication of the long arm of chromosome 2 partial duplication of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016954 MONDO:0016923 True partial duplication of the long arm of chromosome 3 partial duplication of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016955 MONDO:0016924 True partial duplication of the long arm of chromosome 4 partial duplication of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016956 MONDO:0016925 True partial trisomy of the long arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016957 MONDO:0016927 True partial duplication of the long arm of chromosome 6 partial duplication of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016958 MONDO:0016928 True partial duplication of the long arm of chromosome 7 partial duplication of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016959 MONDO:0016929 True partial duplication of the long arm of chromosome 8 partial duplication of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016960 MONDO:0016930 True partial trisomy of the long arm of chromosome 9 partial trisomy/tetrasomy of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016961 MONDO:0016931 True partial duplication of the long arm of chromosome 10 partial duplication of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016966 MONDO:0016934 True partial trisomy of the long arm of chromosome 16 partial duplication of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016967 MONDO:0016935 True partial duplication of the long arm of chromosome 17 partial duplication of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016968 MONDO:0016936 True partial trisomy of the long arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016969 MONDO:0016937 True partial duplication of the long arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016970 MONDO:0016938 True partial trisomy of the long arm of chromosome 20 partial trisomy of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016971 MONDO:0016106 True limb-girdle muscular dystrophy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016974 MONDO:0006456 True thymoma type B thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016975 MONDO:0006456 True thymoma type AB thymoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016976 MONDO:0020516 True well-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016977 MONDO:0020516 True moderately-differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016978 MONDO:0020516 True poorly differentiated thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016979 MONDO:0019118 True MRCS syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016981 MONDO:0017578 True infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome disorder of thiamine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016982 MONDO:0002095 True angiosarcoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016982 MONDO:0018078 True angiosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016987 MONDO:0015548 True neuroacanthocytosis Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016988 MONDO:0015624 True hyperinsulinism due to HNF4A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016989 MONDO:0002254 True Fuchs heterochromic iridocyclitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016989 MONDO:0017634 True Fuchs heterochromic iridocyclitis non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016995 MONDO:0016743 True familial multiple meningioma tumor of meninges UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017004 MONDO:0017003 True partial monosomy of the short arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017007 MONDO:0017003 True partial deletion of the long arm of chromosome X partial deletion of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017009 MONDO:0017008 True partial duplication of the short arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017010 MONDO:0017008 True partial duplication of the long arm of chromosome X partial duplication of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017012 MONDO:0016921 True partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017013 MONDO:0016945 True trisomy 8p partial duplication of the short arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017014 MONDO:0015925 True interstitial lung disease specific to childhood interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017015 MONDO:0017014 True primary interstitial lung disease specific to childhood interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017018 MONDO:0015925 True isolated pulmonary capillaritis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017019 MONDO:0017015 True interstitial lung disease specific to infancy primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017025 MONDO:0018310 True Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017026 MONDO:0015925 True interstitial lung disease specific to adulthood interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017029 MONDO:0018310 True Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017039 MONDO:0015925 True drug or radiation exposure-related interstitial lung disease interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017042 MONDO:0005516 True thanatophoric dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017042 MONDO:0019685 True thanatophoric dysplasia FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017043 MONDO:0005564 True congenital mesoblastic nephroma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017043 MONDO:0036511 True congenital mesoblastic nephroma childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017044 MONDO:0019741 True adult familial nephronophthisis-spastic quadriparesia syndrome familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017050 MONDO:0005564 True intraocular medulloepithelioma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017050 MONDO:0021220 True intraocular medulloepithelioma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017051 MONDO:0009563 True classic maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017052 MONDO:0009563 True intermediate maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017053 MONDO:0009563 True intermittent maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017054 MONDO:0009563 True thiamine-responsive maple syrup urine disease maple syrup urine disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017055 MONDO:0016677 True mycophenolate mofetil embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017056 MONDO:0013578 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017056 MONDO:0016919 True DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion partial deletion of the long arm of chromosome 21 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017058 MONDO:0018778 True autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017060 MONDO:0018968 True open iniencephaly iniencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017061 MONDO:0018968 True closed iniencephaly iniencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017062 MONDO:0019351 True spina bifida aperta isolated spina bifida UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017069 MONDO:0019351 True spina bifida cystica isolated spina bifida UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017076 MONDO:0017069 True posterior meningocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017077 MONDO:0017069 True myelocystocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0017078 True meningoencephalocele cephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017080 MONDO:0016057 True occipital encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017081 MONDO:0016057 True parietal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017082 MONDO:0016057 True basal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017086 MONDO:0018075 True primary tethered cord syndrome neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017087 MONDO:0018075 True neurenteric cyst neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017088 MONDO:0018075 True isolated amyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017089 MONDO:0016608 True isolated megalencephaly megalencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017091 MONDO:0000087 True bilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017092 MONDO:0000087 True unilateral polymicrogyria polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017093 MONDO:0017092 True unilateral focal polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017095 MONDO:0019009 True isolated focal cortical dysplasia type I isolated focal cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017096 MONDO:0017095 True isolated focal cortical dysplasia type Ia isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017097 MONDO:0017095 True isolated focal cortical dysplasia type Ib isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017098 MONDO:0017095 True isolated focal cortical dysplasia type Ic isolated focal cortical dysplasia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017100 MONDO:0015134 True neutropenia-monocytopenia-deafness syndrome constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017101 MONDO:0011818 True isolated focal cortical dysplasia type IIa isolated focal cortical dysplasia type II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017102 MONDO:0011818 True isolated focal cortical dysplasia type IIb isolated focal cortical dysplasia type II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017105 MONDO:0020022 True glioependymal/ependymal cyst central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017107 MONDO:0020022 True isolated cerebellar vermis agenesis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017108 MONDO:0017107 True isolated total cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017109 MONDO:0017107 True isolated partial cerebellar vermis agenesis isolated cerebellar vermis agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017110 MONDO:0009072 True isolated Dandy-Walker malformation with hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017111 MONDO:0009072 True isolated Dandy-Walker malformation without hydrocephalus Dandy-Walker syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017112 MONDO:0020022 True isolated unilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017113 MONDO:0020022 True isolated bilateral hemispheric cerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017116 MONDO:0016349 True congenital communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017117 MONDO:0016349 True congenital non-communicating hydrocephalus congenital hydrocephalus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017123 MONDO:0002254 True arthrogryposis-renal dysfunction-cholestasis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017123 MONDO:0017755 True arthrogryposis-renal dysfunction-cholestasis syndrome inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017124 MONDO:0004848 True noma ulcerative stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017134 MONDO:0019287 True odonto-onycho dysplasia-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017136 MONDO:0018230 True omodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017137 MONDO:0016075 True onchocerciasis filariasis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017138 MONDO:0002254 True Opitz G/BBB syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017138 MONDO:0003847 True Opitz G/BBB syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017138 MONDO:0008537 True Opitz G/BBB syndrome telecanthus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017138 MONDO:0015159 True Opitz G/BBB syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017139 MONDO:0015498 True oromandibular-limb hypogenesis syndrome oromandibular-limb anomalies syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017145 MONDO:0019050 True beta-thalassemia and related diseases inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017147 MONDO:0015924 True idiopathic pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017148 MONDO:0015924 True heritable pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017149 MONDO:0015924 True drug- or toxin-induced pulmonary arterial hypertension pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017160 MONDO:0017276 True behavioral variant of frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017161 MONDO:0015547 True frontotemporal dementia with motor neuron disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017161 MONDO:0024237 True frontotemporal dementia with motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017162 MONDO:0018234 True imperforate oropharynx-costo vetebral anomalies syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017165 MONDO:0019218 True bile acid CoA ligase deficiency and defective amidation inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017169 MONDO:0015079 True multiple endocrine neoplasia multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017171 MONDO:0009661 True mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017172 MONDO:0009661 True mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis type 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017174 MONDO:0007182 True Machado-Joseph disease type 1 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017175 MONDO:0007182 True Machado-Joseph disease type 2 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017176 MONDO:0007182 True Machado-Joseph disease type 3 Machado-Joseph disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017177 MONDO:0019716 True hemihyperplasia-multiple lipomatosis syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017177 MONDO:0019755 True hemihyperplasia-multiple lipomatosis syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017180 MONDO:0016961 True 10q22.3q23.3 microduplication syndrome partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017182 MONDO:0005803 True familial hyperinsulinism hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017183 MONDO:0015624 True hyperinsulinism due to UCP2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017184 MONDO:0015624 True autosomal dominant hyperinsulinism due to SUR1 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017185 MONDO:0015624 True autosomal dominant hyperinsulinism due to Kir6.2 deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017186 MONDO:0019010 True diazoxide-resistant hyperinsulinism congenital isolated hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017187 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017188 MONDO:0019265 True diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant focal hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017189 MONDO:0017182 True adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017194 MONDO:0005516 True Blount disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017194 MONDO:0019698 True Blount disease bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017195 MONDO:0002254 True Bruck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017195 MONDO:0018230 True Bruck syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017197 MONDO:0019289 True osteopathia striata-pigmentary dermopathy-white forelock syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017198 MONDO:0018230 True osteopetrosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017202 MONDO:0004863 True acute endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017203 MONDO:0004863 True chronic endophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017205 MONDO:0017207 True primary oculocerebral lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017207 MONDO:0005062 True primary organ-specific lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017209 MONDO:0001280 True infectious posterior uveitis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017210 MONDO:0004773 True infectious anterior uveitis iridocyclitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017211 MONDO:0017255 True infectious panuveitis panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017212 MONDO:0001280 True paraneoplastic uveitis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017214 MONDO:0019215 True vitamin B12-responsive methylmalonic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017214 MONDO:0019220 True vitamin B12-responsive methylmalonic acidemia inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017215 MONDO:0002123 True calciphylaxis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017216 MONDO:0017215 True calciphylaxis cutis calciphylaxis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017216 MONDO:0019293 True calciphylaxis cutis skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017217 MONDO:0017215 True visceral calciphylaxis calciphylaxis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017220 MONDO:0016060 True laryngotracheoesophageal cleft type 0 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017221 MONDO:0010714 True Pelizaeus-Merzbacher disease, connatal form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017222 MONDO:0010714 True Pelizaeus-Merzbacher disease, classic form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017223 MONDO:0010714 True Pelizaeus-Merzbacher disease, transitional form Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017224 MONDO:0010714 True Pelizaeus-Merzbacher disease in female carriers Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017225 MONDO:0010714 True null syndrome Pelizeaus-Merzbacher spectrum disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017226 MONDO:0019046 True Pelizaeus-Merzbacher-like disease leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017227 MONDO:0015175 True autoimmune pancreatitis type 1 autoimmune pancreatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017228 MONDO:0015175 True autoimmune pancreatitis type 2 autoimmune pancreatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017229 MONDO:0022174 True distal monosomy 12p chromosome 12p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017230 MONDO:0020088 True autosomal semi-dominant severe lipodystrophic laminopathy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017231 MONDO:0019142 True erythropoietic uroporphyria associated with myeloid malignancy inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017236 MONDO:0002462 True rapidly progressive glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017238 MONDO:0019050 True hemoglobinopathy Toms River inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017242 MONDO:0019293 True cutaneous collagenous vasculopathy skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017243 MONDO:0019315 True bullous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017244 MONDO:0019315 True pseudoxanthomatous diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017245 MONDO:0017843 True intralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017246 MONDO:0017843 True extralobar congenital pulmonary sequestration congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017247 MONDO:0017843 True communicating congenital bronchopulmonary-foregut malformation congenital pulmonary sequestration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017248 MONDO:0016580 True congenital pulmonary airway malformation type 0 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017249 MONDO:0016580 True congenital pulmonary airway malformation type 1 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017250 MONDO:0016580 True congenital pulmonary airway malformation type 2 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017251 MONDO:0016580 True congenital pulmonary airway malformation type 3 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017252 MONDO:0016580 True congenital pulmonary airway malformation type 4 congenital pulmonary airway malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017255 MONDO:0020283 True panuveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017257 MONDO:0020283 True idiopathic posterior uveitis uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017258 MONDO:0017255 True idiopathic panuveitis panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017264 MONDO:0017269 True syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017265 MONDO:0015947 True autosomal recessive congenital ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017266 MONDO:0015947 True keratinopathic ichthyosis inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017267 MONDO:0017265 True self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017268 MONDO:0017265 True acral self-healing collodion baby autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017275 MONDO:0015087 True spastic paraplegia-facial-cutaneous lesions syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017276 MONDO:0015547 True frontotemporal dementia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017276 MONDO:0024237 True frontotemporal dementia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017278 MONDO:0000569 True autoimmune polyendocrinopathy autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017278 MONDO:0015126 True autoimmune polyendocrinopathy polyendocrinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017279 MONDO:0005180 True young-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017282 MONDO:0005738 True alveolar echinococcosis echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017283 MONDO:0016892 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017283 MONDO:0018760 True DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DeSanto-Shinawi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017284 MONDO:0015159 True Xp22.13p22.2 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017284 MONDO:0017009 True Xp22.13p22.2 duplication syndrome partial duplication of the short arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017286 MONDO:0002254 True tempi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017287 MONDO:0007179 True IgG4-related disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017289 MONDO:0011014 True fetal lung interstitial tumor pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017292 MONDO:0005061 True well-differentiated fetal adenocarcinoma of the lung lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017292 MONDO:0005606 True well-differentiated fetal adenocarcinoma of the lung tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017295 MONDO:0018459 True glycerol kinase deficiency, juvenile form isolated glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017296 MONDO:0018459 True glycerol kinase deficiency, adult form isolated glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017300 MONDO:0019512 True congenital pericardium anomaly congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017303 MONDO:0016139 True qualitative or quantitative defects of tropomyosin qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017304 MONDO:0018134 True ocular albinism disorder of melanin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017305 MONDO:0019290 True syndromic oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017306 MONDO:0019189 True disorder of phenylalanine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017306 MONDO:0019235 True disorder of phenylalanine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017307 MONDO:0019189 True disorder of tyrosine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017307 MONDO:0019235 True disorder of tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017312 MONDO:0006025 True Perrault syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017312 MONDO:0016387 True Perrault syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017312 MONDO:0019852 True Perrault syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017313 MONDO:0017758 True disorder of folate metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017314 MONDO:0020066 True Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017315 MONDO:0015159 True short stature-webbed neck-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017317 MONDO:0019755 True phakomatosis pigmentokeratotica developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017318 MONDO:0019289 True phakomatosis pigmentovascularis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017318 MONDO:0019755 True phakomatosis pigmentovascularis developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017319 MONDO:0003664 True hereditary elliptocytosis hemolytic anemia SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017320 MONDO:0019225 True phosphoenolpyruvate carboxykinase deficiency disorder of gluconeogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017321 MONDO:0019287 True pili torti-onychodysplasia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017323 MONDO:0017322 True hypocalcemic rickets disorders of vitamin D metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017324 MONDO:0000044 True autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017324 MONDO:0006025 True autosomal recessive hypophosphatemic rickets autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017325 MONDO:0020072 True early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017327 MONDO:0018171 True primary non-gestational choriocarcinoma of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017328 MONDO:0005440 True non-central nervous system-localized embryonal carcinoma embryonal carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017332 MONDO:0019751 True pyoderma gangrenosum-acne-suppurative hidradenitis syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017334 MONDO:0016877 True 12q15q21.1 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017335 MONDO:0015159 True microtriplication 11q24.1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017335 MONDO:0022173 True microtriplication 11q24.1 chromosome 11q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017337 MONDO:0015129 True inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017338 MONDO:0018424 True fatal multiple mitochondrial dysfunctions syndrome inherited lipoic acid biosynthesis defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017339 MONDO:0017265 True exfoliative ichthyosis autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017340 MONDO:0005586 True juvenile nasopharyngeal angiofibroma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017342 MONDO:0017341 True Epstein-Barr virus-related tumor virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017343 MONDO:0017342 True Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017344 MONDO:0017342 True Epstein-Barr virus-associated carcinoma Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017345 MONDO:0017342 True Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr virus-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017346 MONDO:0017343 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017347 MONDO:0017343 True plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017348 MONDO:0017344 True lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017349 MONDO:0002604 True myopericytoma pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017349 MONDO:0017345 True myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017350 MONDO:0019189 True inborn disorder of tryptophan metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017352 MONDO:0019189 True disorder of glutamine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017353 MONDO:0011612 True neonatal glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017354 MONDO:0011612 True infantile glycine encephalopathy glycine encephalopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017355 MONDO:0019230 True inborn disorder of proline metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017356 MONDO:0019230 True inborn disorder of ornithine metabolism inborn disorder of ornithine or proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017359 MONDO:0019215 True 3-methylglutaconic aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017360 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut0 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017361 MONDO:0016511 True congenital rubella syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017362 MONDO:0015923 True neuralgic amyotrophy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017363 MONDO:0015927 True idiopathic chronic eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017364 MONDO:0015923 True POEMS syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0016511 True congenital varicella syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017373 MONDO:0020129 True poliomyelitis acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017375 MONDO:0016511 True congenital enterovirus infection infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017376 MONDO:0005578 True reactive arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017377 MONDO:0015159 True preaxial polydactyly-colobomata-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017380 MONDO:0015185 True juvenile polyposis syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017384 MONDO:0017396 True acute generalized exanthematous pustulosis toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017385 MONDO:0020070 True malignant migrating partial seizures of infancy neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017386 MONDO:0005212 True pleomorphic rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017387 MONDO:0018078 True epithelioid sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017389 MONDO:0009861 True tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017391 MONDO:0020212 True Grayson-Wilbrandt corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017392 MONDO:0020213 True pre-descemet corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017393 MONDO:0015159 True blepharophimosis - intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017395 MONDO:0017396 True fixed pigmented erythema toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017398 MONDO:0003847 True 3MC syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017398 MONDO:0015159 True 3MC syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017401 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017402 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017403 MONDO:0016342 True familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017405 MONDO:0016883 True 1p21.3 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017406 MONDO:0015770 True hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017407 MONDO:0018762 True deficiency in anterior pituitary function - variable immunodeficiency syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0016511 True fetal cytomegalovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017410 MONDO:0017103 True porencephaly encephaloclastic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0019268 True neonatal inflammatory skin and bowel disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0019751 True neonatal inflammatory skin and bowel disease autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017415 MONDO:0015225 True multiple pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017416 MONDO:0017373 True postpoliomyelitis syndrome poliomyelitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017419 MONDO:0018234 True non-syndromic amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017419 MONDO:0019713 True non-syndromic amelia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017435 MONDO:0002254 True popliteal pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017435 MONDO:0015225 True popliteal pterygium syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017436 MONDO:0003847 True lethal congenital contracture syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017436 MONDO:0015225 True lethal congenital contracture syndrome arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017437 MONDO:0017419 True amelia of upper limb non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017438 MONDO:0017419 True amelia of lower limb non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017439 MONDO:0017419 True tetra-amelia non-syndromic amelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017440 MONDO:0019713 True humeral agenesis/hypoplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017441 MONDO:0018234 True congenital absence of upper arm and forearm with hand present dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017442 MONDO:0018234 True congenital absence of thigh and lower leg with foot present dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017443 MONDO:0018234 True congenital absence of both forearm and hand dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017444 MONDO:0018234 True congenital absence of both lower leg and foot dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017445 MONDO:0018234 True acheiria dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017446 MONDO:0018234 True apodia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017453 MONDO:0016511 True fetal parvovirus syndrome infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017455 MONDO:0018234 True hyperphalangy dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017456 MONDO:0011348 True central polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017460 MONDO:0019530 True syndactyly type 6 non-syndromic syndactyly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017462 MONDO:0015525 True congenital pseudoarthrosis of the tibia congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017463 MONDO:0015525 True congenital pseudoarthrosis of the femur congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017464 MONDO:0015525 True congenital pseudoarthrosis of the fibula congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017465 MONDO:0015525 True congenital pseudoarthrosis of the radius congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017466 MONDO:0015525 True congenital pseudoarthrosis of the ulna congenital pseudoarthrosis of the limbs UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017497 MONDO:0017442 True congenital absence of thigh and lower leg with foot present, bilateral congenital absence of thigh and lower leg with foot present SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017499 MONDO:0017443 True congenital absence of both forearm and hand, bilateral congenital absence of both forearm and hand SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017501 MONDO:0017444 True congenital absence of both lower leg and foot, bilateral congenital absence of both lower leg and foot SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017543 MONDO:0008512 True zygodactyly type 2 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017544 MONDO:0008512 True zygodactyly type 3 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017545 MONDO:0008512 True zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017546 MONDO:0008652 True congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017547 MONDO:0008652 True congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017552 MONDO:0019782 True humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017553 MONDO:0019782 True humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017554 MONDO:0017985 True radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017555 MONDO:0017985 True radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017558 MONDO:0017469 True congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017559 MONDO:0017469 True congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017560 MONDO:0017470 True congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017561 MONDO:0017470 True congenital genu flexum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017564 MONDO:0017474 True macrodactyly of fingers, unilateral macrodactyly of fingers UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017565 MONDO:0017474 True macrodactyly of fingers, bilateral macrodactyly of fingers UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017566 MONDO:0017475 True macrodactyly of toes, unilateral macrodactyly of toes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017567 MONDO:0017475 True macrodactyly of toes, bilateral macrodactyly of toes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017568 MONDO:0018234 True Prata-Liberal-Goncalves syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017569 MONDO:0006025 True de Barsy syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017569 MONDO:0019303 True de Barsy syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017570 MONDO:0006025 True leukocyte adhesion deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017570 MONDO:0015978 True leukocyte adhesion deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0017623 True Proteus-like syndrome PTEN hamartoma tumor syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017572 MONDO:0006009 True tick-borne encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017573 MONDO:0017576 True 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0009637 True mitochondrial neurogastrointestinal encephalomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0019238 True mitochondrial neurogastrointestinal encephalomyopathy inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0020127 True mitochondrial neurogastrointestinal encephalomyopathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017576 MONDO:0002145 True 46,XX disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017578 MONDO:0017758 True disorder of thiamine metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017579 MONDO:0002254 True Baraitser-Winter cerebrofrontofacial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017579 MONDO:0015159 True Baraitser-Winter cerebrofrontofacial syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017579 MONDO:0018838 True Baraitser-Winter cerebrofrontofacial syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0017580 MONDO:0015159 True 11p15.4 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017580 MONDO:0016948 True 11p15.4 microduplication syndrome partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017580 MONDO:0019716 True 11p15.4 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017582 MONDO:0002109 True pituitary adenocarcinoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017585 MONDO:0016752 True painful orbital and systemic neurofibromas-marfanoid habitus syndrome benign peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017586 MONDO:0017588 True onychocytic matricoma nail tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017587 MONDO:0017588 True onychomatricoma nail tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017590 MONDO:0000919 True carcinoma of the ampulla of vater ampulla of vater cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017591 MONDO:0002429 True combined pulmonary fibrosis-emphysema syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017594 MONDO:0015759 True indolent B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017595 MONDO:0015759 True aggressive B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017596 MONDO:0018905 True diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017596 MONDO:0044887 True diffuse large B-cell lymphoma of the central nervous system central nervous system non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017597 MONDO:0018905 True T-cell/histiocyte rich large B cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017598 MONDO:0000607 True primary cutaneous anaplastic large cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017598 MONDO:0018897 True primary cutaneous anaplastic large cell lymphoma primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017598 MONDO:0020325 True primary cutaneous anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017598 MONDO:0020633 True primary cutaneous anaplastic large cell lymphoma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017599 MONDO:0017604 True splenic diffuse red pulp small B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017600 MONDO:0018935 True hairy cell leukemia variant hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017601 MONDO:0017343 True diffuse large B-cell lymphoma with chronic inflammation Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017601 MONDO:0018905 True diffuse large B-cell lymphoma with chronic inflammation diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017602 MONDO:0020325 True ALK-positive anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017603 MONDO:0020325 True ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017604 MONDO:0017594 True marginal zone lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017607 MONDO:0018075 True caudal regression sequence neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017610 MONDO:0019276 True epidermolysis bullosa simplex inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017611 MONDO:0002720 True pituitary tumor sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017611 MONDO:0003381 True pituitary tumor pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017612 MONDO:0019276 True junctional epidermolysis bullosa inherited epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017614 MONDO:0015159 True X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017615 MONDO:0000413 True benign familial infantile epilepsy infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017615 MONDO:0015642 True benign familial infantile epilepsy benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017617 MONDO:0017769 True acquired adult-onset immunodeficiency acquired immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017623 MONDO:0019755 True PTEN hamartoma tumor syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017630 MONDO:0017140 True X-linked complicated spastic paraplegia type 1 L1 syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017634 MONDO:0006651 True non-infectious anterior uveitis anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017659 MONDO:0017658 True sporadic hyperekplexia hyperekplexia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017666 MONDO:0019272 True diffuse palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017668 MONDO:0015159 True intellectual disability-short stature-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017672 MONDO:0019272 True focal palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017675 MONDO:0019272 True punctate palmoplantar keratoderma hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017677 MONDO:0017675 True focal acral hyperkeratosis punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017681 MONDO:0019270 True erythrokeratoderma variabilis progressiva erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017682 MONDO:0015159 True intellectual disability-polydactyly-uncombable hair syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017683 MONDO:0018964 True methylcobalamin deficiency type cblDv1 homocystinuria without methylmalonic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017684 MONDO:0019189 True disorder of beta and omega amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017685 MONDO:0017214 True vitamin B12-responsive methylmalonic acidemia, type cblDv2 vitamin B12-responsive methylmalonic acidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017686 MONDO:0019052 True inborn aminoacylase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017687 MONDO:0019216 True disorder of neutral amino acid transport inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017688 MONDO:0019214 True disorder of glycolysis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017689 MONDO:0019214 True disorder of fructose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017690 MONDO:0019214 True disorder of galactose metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017691 MONDO:0009257 True erythrocyte galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017692 MONDO:0009257 True generalized galactose epimerase deficiency galactose epimerase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017694 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017695 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017696 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017697 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017698 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017699 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017700 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017701 MONDO:0009292 True glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0015653 True familial partial epilepsy monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0020072 True familial partial epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017704 MONDO:0020073 True familial partial epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017705 MONDO:0020295 True congenital pulmonary venous return anomaly congenital pulmonary veins anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017706 MONDO:0019214 True disorder of carbohydrate transmembrane transport and absorption inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0017953 True mevalonate kinase deficiency hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0019240 True mevalonate kinase deficiency sterol biosynthesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017713 MONDO:0019223 True disorder of fatty acid oxidation and ketogenesis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017714 MONDO:0017713 True acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017715 MONDO:0017713 True 3-hydroxyacyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017716 MONDO:0019223 True disorder of carnitine cycle and carnitine transport disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017719 MONDO:0019255 True gangliosidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017720 MONDO:0017719 True GM2 gangliosidosis gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017720 MONDO:0024237 True GM2 gangliosidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017721 MONDO:0010006 True Sandhoff disease, infantile form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017722 MONDO:0010006 True Sandhoff disease, juvenile form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017723 MONDO:0010006 True Sandhoff disease, adult form Sandhoff disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017724 MONDO:0010100 True Tay-Sachs disease, b variant, infantile form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017725 MONDO:0010100 True Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017726 MONDO:0010100 True Tay-Sachs disease, B variant, adult form Tay-Sachs disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017727 MONDO:0020292 True fixed subaortic stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017731 MONDO:0002561 True glycoproteinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017732 MONDO:0009561 True alpha-mannosidosis, infantile form alpha-mannosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017733 MONDO:0009561 True alpha-mannosidosis, adult form alpha-mannosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017734 MONDO:0019251 True sialidosis oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017736 MONDO:0002561 True disorder of sialic acid metabolism lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017737 MONDO:0019366 True intermediate severe Salla disease free sialic acid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017738 MONDO:0002561 True lysosomal glycogen storage disease lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017739 MONDO:0019052 True disorder of lysosomal-related organelles inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017740 MONDO:0015286 True disorder of protein N-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017741 MONDO:0015286 True disorder of protein O-glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017747 MONDO:0017741 True disorder of fucoglycosan synthesis disorder of protein O-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017748 MONDO:0015286 True inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017749 MONDO:0015286 True disorder of multiple glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017750 MONDO:0017749 True defect in conserved oligomeric Golgi complex disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017752 MONDO:0017749 True defect in V-ATPase disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017754 MONDO:0019052 True inborn disorder of porphyrin metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017755 MONDO:0017754 True inborn disorder of bilirubin metabolism inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017757 MONDO:0019052 True disorder of metabolite absorption and transport inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017758 MONDO:0017757 True disorder of vitamin and non-protein cofactor absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017759 MONDO:0019219 True disorder of catecholamine synthesis inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017761 MONDO:0017757 True disorder of mineral absorption and transport disorder of metabolite absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017762 MONDO:0017761 True disorder of copper metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017763 MONDO:0017761 True disorder of iron metabolism and transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017764 MONDO:0017761 True disorder of zinc metabolism disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017765 MONDO:0017761 True disorder of magnesium transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017766 MONDO:0017761 True disorder of manganese transport disorder of mineral absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017768 MONDO:0100036 True reflex epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017771 MONDO:0002254 True Mayer-Rokitansky-Kuster-Hauser syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017771 MONDO:0015830 True Mayer-Rokitansky-Kuster-Hauser syndrome partial bilateral aplasia of the mullerian ducts UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017774 MONDO:0001822 True hypobetalipoproteinemia hypolipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017775 MONDO:0000314 True melioidosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017776 MONDO:0000316 True nocardiosis opportunistic bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017779 MONDO:0019251 True alpha-N-acetylgalactosaminidase deficiency oligosaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017780 MONDO:0015159 True 20p13 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017780 MONDO:0016898 True 20p13 microdeletion syndrome partial monosomy of the short arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017781 MONDO:0022174 True 12p12.1 microdeletion syndrome chromosome 12p deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017784 MONDO:0017344 True Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017786 MONDO:0016953 True 2q23.1 microduplication syndrome partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017788 MONDO:0015161 True contractures - webbed neck - micrognathia - hypoplastic nipples syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017790 MONDO:0018502 True gastric adenocarcinoma and proximal polyposis of the stomach hereditary gastric cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017792 MONDO:0015159 True 7p22.1 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017792 MONDO:0016944 True 7p22.1 microduplication syndrome partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017793 MONDO:0019755 True marfanoid habitus-inguinal hernia-advanced bone age syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017794 MONDO:0017010 True Xq12-q13.3 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017795 MONDO:0021192 True ameloblastoma odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017805 MONDO:0015159 True intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0015159 True 15q overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0016965 True 15q overgrowth syndrome partial duplication of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017806 MONDO:0019716 True 15q overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017810 MONDO:0018590 True variant ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017810 MONDO:0018634 True variant ABeta2M amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017811 MONDO:0016904 True severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017812 MONDO:0019716 True segmental progressive overgrowth syndrome with fibroadipose hyperplasia overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017813 MONDO:0003847 True van Maldergem syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017813 MONDO:0015159 True van Maldergem syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017814 MONDO:0002129 True primary bone lymphoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017814 MONDO:0017207 True primary bone lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017815 MONDO:0017410 True acquired porencephaly porencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017816 MONDO:0019438 True primary systemic amyloidosis AL amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017817 MONDO:0019438 True primary localized amyloidosis AL amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017822 MONDO:0003429 True mixed functioning pituitary adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017823 MONDO:0017822 True somatomammotropinoma mixed functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017824 MONDO:0006373 True familial isolated pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017825 MONDO:0019613 True silent pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017826 MONDO:0019613 True null pituitary adenoma non-functioning pituitary adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017827 MONDO:0002547 True malignant peripheral nerve sheath tumor nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017827 MONDO:0016749 True malignant peripheral nerve sheath tumor tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017827 MONDO:0021089 True malignant peripheral nerve sheath tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0008369 True autosomal dominant proximal renal tubular acidosis proximal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0015962 True autosomal dominant proximal renal tubular acidosis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017830 MONDO:0010079 True severe Canavan disease Canavan disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017831 MONDO:0010079 True mild Canavan disease Canavan disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017833 MONDO:0015691 True primary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017834 MONDO:0015691 True secondary hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017835 MONDO:0017834 True lymphocytic hypereosinophilic syndrome secondary hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017836 MONDO:0019270 True erythrokeratoderma en cocardes erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017838 MONDO:0002185 True sclerosteosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017839 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017840 MONDO:0008728 True classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017842 MONDO:0005308 True Senior-Loken syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017842 MONDO:0006025 True Senior-Loken syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017844 MONDO:0000607 True Sezary syndrome primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017845 MONDO:0100309 True spastic ataxia hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017846 MONDO:0017845 True autosomal dominant spastic ataxia spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017847 MONDO:0017845 True autosomal recessive spastic ataxia spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017851 MONDO:0017666 True erythrokeratodermia variabilis diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017853 MONDO:0015925 True hypersensitivity pneumonitis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017855 MONDO:0015974 True T-B- severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017858 MONDO:0015667 True acute erythroid leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017858 MONDO:0020703 True acute erythroid leukemia erythroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017865 MONDO:0020292 True congenital pulmonary valve stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017866 MONDO:0017865 True subpulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017867 MONDO:0015159 True distal 17p13.1 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017869 MONDO:0018230 True chondroectodermal dysplasia with night blindness skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017869 MONDO:0019287 True chondroectodermal dysplasia with night blindness ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017870 MONDO:0017865 True supravalvular pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017871 MONDO:0019801 True bilateral massive adrenal hemorrhage acute adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017872 MONDO:0018087 True Lujo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017875 MONDO:0018087 True Bolivian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017876 MONDO:0018087 True Venezuelan hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017877 MONDO:0018087 True Brazilian hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017878 MONDO:0018087 True Chapare hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0005275 True hantavirus pulmonary syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017879 MONDO:0018087 True hantavirus pulmonary syndrome viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017880 MONDO:0018087 True Rift valley fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017881 MONDO:0018087 True Kyasanur forest disease viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017882 MONDO:0018087 True Omsk hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017884 MONDO:0002512 True papillary renal cell carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017884 MONDO:0005549 True papillary renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017885 MONDO:0005549 True chromophobe renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017886 MONDO:0005086 True MIT family translocation renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017887 MONDO:0005549 True renal cell carcinoma associated with neuroblastoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017890 MONDO:0005549 True tubulocystic renal cell carcinoma renal cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017892 MONDO:0015168 True autosomal recessive myogenic arthrogryposis multiplex congenita arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017892 MONDO:0019950 True autosomal recessive myogenic arthrogryposis multiplex congenita congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017893 MONDO:0018874 True inherited acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017894 MONDO:0018874 True acute myeloid leukemia with CEBPA somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017895 MONDO:0015447 True familial papillary or follicular thyroid carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017895 MONDO:0017896 True familial papillary or follicular thyroid carcinoma familial nonmedullary thyroid carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017896 MONDO:0015075 True familial nonmedullary thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017900 MONDO:0019146 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017901 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017902 MONDO:0015979 True autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017903 MONDO:0019146 True autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017905 MONDO:0019146 True X-linked Mendelian susceptibility to mycobacterial diseases inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017906 MONDO:0015301 True amyloidosis cutis dyschromia primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017907 MONDO:0017207 True primary lymphoma of the conjunctiva primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017910 MONDO:0020102 True dehydrated hereditary stomatocytosis hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017913 MONDO:0019064 True pure or complex hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017917 MONDO:0015150 True maternally-inherited spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017919 MONDO:0019356 True exstrophy-epispadias complex urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017920 MONDO:0015159 True deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017923 MONDO:0003847 True multiple synostoses syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017923 MONDO:0019054 True multiple synostoses syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017925 MONDO:0003778 True T-cell immunodeficiency with epidermodysplasia verruciformis inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017927 MONDO:0019698 True severe lateral tibial bowing with short stature bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017931 MONDO:0016112 True hereditary inclusion body myopathy type 4 hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017932 MONDO:0015159 True muscular hypertrophy-hepatomegaly-polyhydramnios syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017933 MONDO:0016387 True hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017934 MONDO:0015159 True aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017935 MONDO:0015624 True hyperinsulinism due to HNF1A deficiency diazoxide-sensitive diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017936 MONDO:0019952 True benign Samaritan congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017937 MONDO:0019548 True autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017939 MONDO:0018948 True classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017940 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017941 MONDO:0018093 True chikungunya arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017944 MONDO:0000827 True invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017951 MONDO:0019287 True trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0017951 MONDO:0019695 True trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017953 MONDO:0015137 True hereditary periodic fever syndrome periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017958 MONDO:0019751 True magic syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017967 MONDO:0020040 True testicular agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017968 MONDO:0020040 True 46,XY ovotesticular disorder of sex development 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017972 MONDO:0008725 True classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017973 MONDO:0008725 True non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017975 MONDO:0002145 True sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017979 MONDO:0002459 True autoimmune lymphoproliferative syndrome type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017979 MONDO:0016537 True autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017980 MONDO:0018234 True syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017990 MONDO:0000992 True catecholaminergic polymorphic ventricular tachycardia heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017991 MONDO:0015236 True Takayasu arteritis aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017992 MONDO:0019751 True autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017997 MONDO:0015159 True telecanthus-hypertelorism-strabismus-pes cavus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017998 MONDO:0018307 True PLA2G6-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0015150 True fatty acid hydroxylase-associated neurodegeneration complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0018117 True fatty acid hydroxylase-associated neurodegeneration disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0018307 True fatty acid hydroxylase-associated neurodegeneration neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0018234 True hereditary thrombocytosis with transverse limb defect dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0019054 True hereditary thrombocytosis with transverse limb defect congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018000 MONDO:0021181 True hereditary thrombocytosis with transverse limb defect inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018002 MONDO:0009637 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018002 MONDO:0016387 True adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018004 MONDO:0018872 True acute megakaryoblastic leukemia without down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018005 MONDO:0015087 True spastic paraplegia-Paget disease of bone syndrome autosomal dominant complex spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018006 MONDO:0016108 True adult-onset distal myopathy due to VCP mutation autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018010 MONDO:0020122 True juvenile idiopathic inflammatory myopathy acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018011 MONDO:0018010 True juvenile overlap myositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018013 MONDO:0018904 True non-immunoglobulin-mediated membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018014 MONDO:0017714 True transient neonatal multiple acyl-CoA dehydrogenase deficiency acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018016 MONDO:0015066 True classic neuroendocrine tumor of appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0002120 True goblet cell carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0003196 True goblet cell carcinoma appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0015066 True goblet cell carcinoma neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018018 MONDO:0016345 True wild type ATTR amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018018 MONDO:0019065 True wild type ATTR amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018022 MONDO:0017145 True hemoglobin Lepore-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018026 MONDO:0019934 True tetraploidy syndrome polyploidy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018027 MONDO:0019040 True duplication/inversion 15q11 chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018028 MONDO:0016942 True tetrasomy 5p partial trisomy/tetrasomy of the short arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018031 MONDO:0045071 True granulomatous slack skin disease mycosis fungoides variant UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0016677 True thalidomide embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0018234 True thalidomide embryopathy dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0019054 True thalidomide embryopathy congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018037 MONDO:0002468 True hyper-IgE syndrome hyperimmunoglobulin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018039 MONDO:0001342 True selective IgM deficiency dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018043 MONDO:0015161 True Thomas syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018045 MONDO:0020022 True Hoyeraal-Hreidarsson syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018047 MONDO:0021181 True familial thrombomodulin anomalies inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018050 MONDO:0018234 True tibial aplasia-ectrodactyly syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018050 MONDO:0019054 True tibial aplasia-ectrodactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018053 MONDO:0019287 True trichothiodystrophy ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018054 MONDO:0004981 True familial atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018055 MONDO:0006517 True pediatric hepatocellular carcinoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018055 MONDO:0007256 True pediatric hepatocellular carcinoma hepatocellular carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018056 MONDO:0006572 True bullous lichen planus lichen planus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018059 MONDO:0006670 True meningococcal meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018061 MONDO:0019287 True trichodermodysplasia-dental alterations syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018063 MONDO:0006591 True nodular non-suppurative panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018063 MONDO:0019296 True nodular non-suppurative panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018064 MONDO:0015338 True trigonocephaly-broad thumbs syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018065 MONDO:0015337 True isolated trigonocephaly isolated craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018066 MONDO:0019852 True trisomy X inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018067 MONDO:0019934 True triploidy polyploidy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018069 MONDO:0016967 True distal trisomy 17q partial duplication of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018072 MONDO:0016581 True persistent truncus arteriosus conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018075 MONDO:0020022 True neural tube defect central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018076 MONDO:0000314 True tuberculosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018077 MONDO:0000314 True tularemia primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018078 MONDO:0005089 True soft tissue sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018078 MONDO:0024637 True soft tissue sarcoma malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018079 MONDO:0005197 True thymic epithelial neoplasm thymus neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018079 MONDO:0005626 True thymic epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018081 MONDO:0018087 True hemorrhagic fever-renal syndrome viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018082 MONDO:0020292 True aorto-ventricular tunnel congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018084 MONDO:0004994 True Uhl anomaly cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018086 MONDO:0018855 True ulerythema ophryogenesis keratosis pilaris atrophicans UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018088 MONDO:0005046 True familial Mediterranean fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018088 MONDO:0017953 True familial Mediterranean fever hereditary periodic fever syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018089 MONDO:0002070 True double outlet right ventricle ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018089 MONDO:0016581 True double outlet right ventricle conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018090 MONDO:0016581 True double outlet left ventricle conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018091 MONDO:0015159 True microcephaly-brachydactyly-kyphoscoliosis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018091 MONDO:0019054 True microcephaly-brachydactyly-kyphoscoliosis syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018092 MONDO:0017255 True Vogt-Koyanagi-Harada disease panuveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018094 MONDO:0000426 True Waardenburg syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018094 MONDO:0002254 True Waardenburg syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018094 MONDO:0015161 True Waardenburg syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018095 MONDO:0015159 True Weaver-Williams syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018096 MONDO:0000429 True Weill-Marchesani syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018096 MONDO:0002254 True Weill-Marchesani syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018096 MONDO:0015161 True Weill-Marchesani syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018096 MONDO:0019695 True Weill-Marchesani syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018097 MONDO:0000413 True West syndrome infancy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018100 MONDO:0004689 True familial primary hypomagnesemia inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018102 MONDO:0000942 True corneal dystrophy corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018103 MONDO:0004907 True Quinquaud's folliculitis decalvans alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018105 MONDO:0002254 True Wolfram syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018106 MONDO:0019236 True hereditary xanthinuria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018116 MONDO:0017690 True galactosemia disorder of galactose metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018117 MONDO:0002525 True disorder of phospholipids, sphingolipids and fatty acids biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018121 MONDO:0016387 True mitochondrial DNA maintenance syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018125 MONDO:0015653 True focal epilepsy-intellectual disability-cerebro-cerebellar malformation monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018126 MONDO:0020071 True progressive myoclonic epilepsy with dystonia infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018127 MONDO:0016914 True 16q24.1 microdeletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018128 MONDO:0019707 True phalangeal microgeodic syndrome primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018129 MONDO:0019255 True autosomal recessive cerebellar ataxia with late-onset spasticity sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018129 MONDO:0020044 True autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018130 MONDO:0013150 True brain dopamine-serotonin vesicular transport disease parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018130 MONDO:0019219 True brain dopamine-serotonin vesicular transport disease inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018131 MONDO:0016908 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018131 MONDO:0018681 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018133 MONDO:0020127 True attenuated Chédiak-Higashi syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018133 MONDO:0024237 True attenuated Chédiak-Higashi syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018134 MONDO:0019189 True disorder of melanin metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018135 MONDO:0018910 True oculocutaneous albinism type 1 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018136 MONDO:0018135 True minimal pigment oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018137 MONDO:0018135 True temperature-sensitive oculocutaneous albinism type 1 oculocutaneous albinism type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018141 MONDO:0009949 True pyruvate carboxylase deficiency, infantile form pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018142 MONDO:0009949 True pyruvate carboxylase deficiency, severe neonatal type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018143 MONDO:0009949 True pyruvate carboxylase deficiency, benign type pyruvate carboxylase deficiency disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018149 MONDO:0017719 True GM1 gangliosidosis gangliosidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018150 MONDO:0019255 True Gaucher disease sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018151 MONDO:0016387 True coenzyme Q10 deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018151 MONDO:0020127 True coenzyme Q10 deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018152 MONDO:0001280 True serpiginous choroiditis choroiditis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018153 MONDO:0015531 True Erdheim-Chester disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018156 MONDO:0016902 True 3q26q27 microdeletion syndrome partial deletion of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018158 MONDO:0016387 True mitochondrial DNA depletion syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018160 MONDO:0008380 True hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018160 MONDO:0015356 True hereditary retinoblastoma hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018161 MONDO:0008380 True non-hereditary retinoblastoma retinoblastoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018163 MONDO:0019573 True autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018164 MONDO:0005979 True arterial thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018165 MONDO:0005979 True venous thoracic outlet syndrome thoracic outlet syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018166 MONDO:0006858 True oral submucous fibrosis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018167 MONDO:0019033 True primary essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018168 MONDO:0019033 True primary non-essential cutis verticis gyrata primary cutis verticis gyrata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0006290 True malignant germ cell tumor of ovary malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0011366 True malignant germ cell tumor of ovary ovarian germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018171 MONDO:0018202 True malignant germ cell tumor of ovary gonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018171 MONDO:0018365 True malignant germ cell tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018172 MONDO:0018365 True malignant sex cord stromal tumor of ovary malignant non-epithelial tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018172 MONDO:0021657 True malignant sex cord stromal tumor of ovary ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018177 MONDO:0016680 True glioblastoma high grade astrocytic tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018180 MONDO:0017592 True staphylococcal scarlet fever staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018181 MONDO:0000315 True staphylococcal scalded skin syndrome commensal bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018181 MONDO:0017592 True staphylococcal scalded skin syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018182 MONDO:0017592 True bullous impetigo staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018183 MONDO:0017592 True staphylococcal necrotizing pneumonia staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018189 MONDO:0019216 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018189 MONDO:0020044 True autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018193 MONDO:0010108 True testicular teratoma testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018197 MONDO:0015962 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018197 MONDO:0100512 True mitochondrial DNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018198 MONDO:0020072 True acute encephalopathy with biphasic seizures and late reduced diffusion childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018199 MONDO:0020072 True new-onset refractory status epilepticus childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018199 MONDO:0020073 True new-onset refractory status epilepticus adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018201 MONDO:0005040 True extragonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018203 MONDO:0019303 True LMNA-related cardiocutaneous progeria syndrome premature aging syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018204 MONDO:0015159 True 20q11.2 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018204 MONDO:0016970 True 20q11.2 microduplication syndrome partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018205 MONDO:0022756 True distal monosomy 1q chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018206 MONDO:0016112 True childhood-onset autosomal recessive myopathy with external ophthalmoplegia hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018207 MONDO:0015159 True 2p13.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018207 MONDO:0016884 True 2p13.2 microdeletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018208 MONDO:0018975 True neurofibromatosis type 1 due to NF1 mutation or intragenic deletion neurofibromatosis type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018209 MONDO:0008752 True Alexander disease type I Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018210 MONDO:0008752 True Alexander disease type II Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018213 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018213 MONDO:0018117 True hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018214 MONDO:0015653 True generalized epilepsy with febrile seizures plus monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018216 MONDO:0012496 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018216 MONDO:0016915 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018217 MONDO:0012496 True Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018218 MONDO:0024237 True autosomal recessive cerebral atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018221 MONDO:0015193 True immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018223 MONDO:0000430 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018223 MONDO:0000621 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018223 MONDO:0003659 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018223 MONDO:0006188 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018223 MONDO:0017343 True systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018224 MONDO:0006188 True hydroa vacciniforme-like lymphoma EBV-positive T-cell lymphoproliferative disorder of childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018224 MONDO:0017343 True hydroa vacciniforme-like lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018225 MONDO:0018905 True ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018226 MONDO:0020065 True infantile epileptic-dyskinetic encephalopathy combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018227 MONDO:0015491 True hypocomplementemic urticarial vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018228 MONDO:0018234 True bipartite talus dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018229 MONDO:0019810 True Stevens-Johnson syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018233 MONDO:0019690 True otopalatodigital syndrome spectrum disorder filamin-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018234 MONDO:0005497 True dysostosis bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018237 MONDO:0018234 True acrofacial dysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018244 MONDO:0019182 True obesity due to SIM1 deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0015327 True CADDS developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0019046 True CADDS leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018247 MONDO:0019053 True CADDS peroxisomal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018248 MONDO:0015159 True intellectual disability-seizures-macrocephaly-obesity syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018250 MONDO:0017666 True diffuse palmoplantar keratoderma with painful fissures diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018252 MONDO:0017672 True focal palmoplantar keratoderma with joint keratoses focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018253 MONDO:0015159 True intellectual disability-facial dysmorphism-hand anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018256 MONDO:0018874 True acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018257 MONDO:0020508 True familial syringomyelia primary syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018263 MONDO:0016677 True fetal carbamazepine syndrome toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018264 MONDO:0018910 True oculocutaneous albinism type 6 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0018266 MONDO:0020065 True ataxia - telangiectasia variant combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018268 MONDO:0020117 True Medich giant platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018269 MONDO:0020117 True white platelet syndrome alpha granule disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018270 MONDO:0012817 True extraskeletal Ewing sarcoma Ewing sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018270 MONDO:0018078 True extraskeletal Ewing sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018270 MONDO:0021039 True extraskeletal Ewing sarcoma extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018271 MONDO:0005462 True peripheral primitive neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018271 MONDO:0021038 True peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018271 MONDO:0021089 True peripheral primitive neuroectodermal tumor peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015159 True XYLT1-congenital disorder of glycosylation multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015286 True XYLT1-congenital disorder of glycosylation congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018273 MONDO:0015327 True XYLT1-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018274 MONDO:0006025 True GM3 synthase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018274 MONDO:0017748 True GM3 synthase deficiency inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018274 MONDO:0018117 True GM3 synthase deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018276 MONDO:0019950 True muscular dystrophy-dystroglycanopathy congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018278 MONDO:0015286 True congenital muscular dystrophy with intellectual disability congenital disorder of glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018278 MONDO:0018276 True congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018280 MONDO:0018276 True muscle-eye-brain disease with bilateral multicystic leucodystrophy muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018280 MONDO:0018869 True muscle-eye-brain disease with bilateral multicystic leucodystrophy cobblestone lissencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018281 MONDO:0019950 True congenital muscular dystrophy with hyperlaxity congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018282 MONDO:0016139 True qualitative or quantitative defects of alpha-dystroglycan qualitative or quantitative protein defects in neuromuscular diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018298 MONDO:0019707 True multicentric osteolysis-nodulosis-arthropathy spectrum primary osteolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018301 MONDO:0006030 True interstitial cystitis chronic cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018304 MONDO:0019751 True Schnitzler syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018305 MONDO:0005910 True chronic granulomatous disease phagocyte bactericidal dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018306 MONDO:0017305 True Griscelli syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018307 MONDO:0015547 True neurodegeneration with brain iron accumulation hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018307 MONDO:0024237 True neurodegeneration with brain iron accumulation inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018308 MONDO:0024477 True liver mesenchymal hamartoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018310 MONDO:0002637 True Langerhans cell histiocytosis histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018310 MONDO:0020082 True Langerhans cell histiocytosis dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018311 MONDO:0019289 True acromelanosis hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018312 MONDO:0000308 True histoplasmosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018314 MONDO:0015653 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018314 MONDO:0020071 True infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018316 MONDO:0024237 True fatal post-viral neurodegenerative disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018319 MONDO:0020127 True familial episodic pain syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018322 MONDO:0010327 True HSD10 disease, infantile type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018323 MONDO:0010327 True HSD10 disease, neonatal type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018324 MONDO:0009688 True adult-onset myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018325 MONDO:0009688 True juvenile myasthenia gravis myasthenia gravis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018326 MONDO:0009688 True transient neonatal myasthenia gravis myasthenia gravis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018326 MONDO:0018356 True transient neonatal myasthenia gravis secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018327 MONDO:0002604 True glomus tumor pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018330 MONDO:0006087 True mucinous adenocarcinoma of the appendix appendix adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018332 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, severe neonatal type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018333 MONDO:0009282 True multiple acyl-CoA dehydrogenase deficiency, mild type multiple acyl-CoA dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018338 MONDO:0015977 True activated PI3K-delta syndrome agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018341 MONDO:0015159 True 3q27.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018342 MONDO:0015369 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018342 MONDO:0015461 True Joubert syndrome with Jeune asphyxiating thoracic dystrophy short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0000995 True periodic paralysis with later-onset distal motor neuropathy familial periodic paralysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0016387 True periodic paralysis with later-onset distal motor neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018343 MONDO:0019056 True periodic paralysis with later-onset distal motor neuropathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018346 MONDO:0019052 True ferro-cerebro-cutaneous syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018346 MONDO:0024237 True ferro-cerebro-cutaneous syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018349 MONDO:0017740 True MAN1B1-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018352 MONDO:0005096 True squamous cell carcinoma of penis squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018352 MONDO:0006360 True squamous cell carcinoma of penis penile carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018354 MONDO:0015770 True Prader-Willi-like syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018355 MONDO:0018354 True SIM1-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018357 MONDO:0018356 True neonatal antiphospholipid syndrome secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018358 MONDO:0018356 True neonatal autoimmune hemolytic anemia secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018359 MONDO:0018356 True neonatal dermatomyositis secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018360 MONDO:0018356 True neonatal lupus erythematosus secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018361 MONDO:0018356 True neonatal scleroderma secondary neonatal autoimmune disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018363 MONDO:0019287 True focal facial dermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018364 MONDO:0002229 True malignant epithelial tumor of ovary ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018364 MONDO:0004993 True malignant epithelial tumor of ovary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018364 MONDO:0008170 True malignant epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018365 MONDO:0008170 True malignant non-epithelial tumor of ovary ovarian cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018368 MONDO:0006386 True primary peritoneal serous/papillary carcinoma primary peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018369 MONDO:0003821 True immature ovarian teratoma ovarian biphasic or triphasic teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018370 MONDO:0016108 True KLHL9-related early-onset distal myopathy autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018371 MONDO:0018949 True nebulin-related early-onset distal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018373 MONDO:0005380 True avascular necrosis osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018374 MONDO:0018373 True secondary avascular necrosis avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018375 MONDO:0018374 True traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018376 MONDO:0018374 True secondary non-traumatic avascular necrosis secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018378 MONDO:0018374 True osteonecrosis of the jaw secondary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018379 MONDO:0018373 True primary avascular necrosis avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018380 MONDO:0018379 True idiopathic avascular necrosis primary avascular necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018381 MONDO:0005380 True osteochondrosis osteonecrosis UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018382 MONDO:0005380 True epiphysiolysis of the hip osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018416 MONDO:0015150 True autosomal recessive spastic paraplegia type 59 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018417 MONDO:0015150 True autosomal recessive spastic paraplegia type 60 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018418 MONDO:0015150 True autosomal recessive spastic paraplegia type 66 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018419 MONDO:0015150 True autosomal recessive spastic paraplegia type 67 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018421 MONDO:0015150 True autosomal recessive spastic paraplegia type 69 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018422 MONDO:0015150 True autosomal recessive spastic paraplegia type 70 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018423 MONDO:0015149 True autosomal recessive spastic paraplegia type 71 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018424 MONDO:0004069 True inherited lipoic acid biosynthesis defect inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018426 MONDO:0016362 True AXIN2-related attenuated familial adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018428 MONDO:0015159 True 9q31.1q31.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018428 MONDO:0016908 True 9q31.1q31.3 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018429 MONDO:0015159 True 14q24.1q24.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018429 MONDO:0016912 True 14q24.1q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018430 MONDO:0020022 True partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018431 MONDO:0015364 True cold-induced sweating syndrome - hyperthermia spectrum hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018432 MONDO:0021154 True lichen myxedematosus dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018433 MONDO:0018874 True acute myeloid leukemia with t(6;9)(p23;q34) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018434 MONDO:0018874 True acute myeloid leukemia with t(9;11)(p22;q23) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018435 MONDO:0018874 True acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018436 MONDO:0018874 True megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018437 MONDO:0018874 True acute myeloid leukemia with NPM1 somatic mutations acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018440 MONDO:0015827 True autosomal recessive distal renal tubular acidosis distal renal tubular acidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018442 MONDO:0016677 True acitretin/etretinate embryopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018443 MONDO:0015159 True FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018445 MONDO:0019716 True global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018446 MONDO:0015244 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018446 MONDO:0015653 True autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018447 MONDO:0000631 True chondromyxoid fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018447 MONDO:0024470 True chondromyxoid fibroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018449 MONDO:0005086 True acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018450 MONDO:0024257 True spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018456 MONDO:0011429 True polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0001566 True familial hypocalciuric hypercalcemia hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018458 MONDO:0017014 True familial hypocalciuric hypercalcemia interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0019052 True familial hypocalciuric hypercalcemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018459 MONDO:0010613 True isolated glycerol kinase deficiency inborn glycerol kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018461 MONDO:0007113 True Angelman syndrome due to a point mutation Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018462 MONDO:0007113 True Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018463 MONDO:0010395 True mild phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018464 MONDO:0010395 True severe phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018465 MONDO:0000569 True insulin autoimmune syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018465 MONDO:0005803 True insulin autoimmune syndrome hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018468 MONDO:0018438 True proton-pump inhibitor-responsive esophageal eosinophilia eosinophilic gastrointestinal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018473 MONDO:0001336 True hyperlipoproteinemia type 3 familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018474 MONDO:0015159 True 13q12.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018474 MONDO:0016911 True 13q12.3 microdeletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018474 MONDO:0019268 True 13q12.3 microdeletion syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018475 MONDO:0015547 True PRKAR1B-related neurodegenerative dementia with intermediate filaments hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018475 MONDO:0024237 True PRKAR1B-related neurodegenerative dementia with intermediate filaments inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018476 MONDO:0020065 True dystonia-aphonia syndrome combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018477 MONDO:0005560 True bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018477 MONDO:0017755 True bilirubin encephalopathy inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018479 MONDO:0005523 True congenital adrenal hyperplasia steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018479 MONDO:0015129 True congenital adrenal hyperplasia chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018479 MONDO:0015514 True congenital adrenal hyperplasia hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018479 MONDO:0015898 True congenital adrenal hyperplasia adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018480 MONDO:0019086 True carcinoma of esophagus, salivary gland type carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018481 MONDO:0005617 True undifferentiated carcinoma of esophagus undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018485 MONDO:0009290 True glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018487 MONDO:0028226 True autosomal recessive severe congenital neutropenia due to CXCR2 deficiency autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018490 MONDO:0015159 True cono-spondylar dysplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018492 MONDO:0003008 True hereditary clear cell renal cell carcinoma hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018492 MONDO:0005005 True hereditary clear cell renal cell carcinoma clear cell renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018493 MONDO:0003847 True malignant hyperthermia of anesthesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018493 MONDO:0019119 True malignant hyperthermia of anesthesia muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018494 MONDO:0015159 True microcephaly-short stature-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018495 MONDO:0019118 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018495 MONDO:0019236 True X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018498 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018499 MONDO:0018089 True double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018504 MONDO:0004950 True undifferentiated carcinoma of stomach gastric carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018504 MONDO:0005617 True undifferentiated carcinoma of stomach undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018509 MONDO:0005096 True squamous cell carcinoma of the small intestine squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018509 MONDO:0005522 True squamous cell carcinoma of the small intestine small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018510 MONDO:0002883 True small intestine neuroendocrine neoplasm intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018510 MONDO:0004251 True small intestine neuroendocrine neoplasm small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018513 MONDO:0002032 True squamous cell carcinoma of colon colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018513 MONDO:0006165 True squamous cell carcinoma of colon colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018515 MONDO:0006165 True squamous cell carcinoma of rectum colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018515 MONDO:0044937 True squamous cell carcinoma of rectum rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018521 MONDO:0005096 True squamous cell carcinoma of pancreas squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018523 MONDO:0002809 True pancreatic mucinous cystadenoma pancreatic cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018525 MONDO:0005192 True solid pseudopapillary carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018531 MONDO:0002691 True carcinoma of liver and intrahepatic biliary tract liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018531 MONDO:0006181 True carcinoma of liver and intrahepatic biliary tract digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018533 MONDO:0018531 True undifferentiated carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018534 MONDO:0018531 True squamous cell carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018535 MONDO:0018531 True biliary cystadenocarcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018536 MONDO:0018918 True adenocarcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018537 MONDO:0018918 True squamous cell carcinoma of gallbladder and extrahepatic biliary tract carcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018540 MONDO:0019751 True PFAPA syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018541 MONDO:0015900 True familial hypoaldosteronism hypoaldosteronism disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018542 MONDO:0015134 True severe congenital neutropenia constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018543 MONDO:0000426 True autosomal dominant hypocalcemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018543 MONDO:0016390 True autosomal dominant hypocalcemia familial hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018544 MONDO:0000425 True adrenoleukodystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018544 MONDO:0015547 True adrenoleukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018544 MONDO:0019046 True adrenoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0018551 MONDO:0018565 True patent urachus congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018552 MONDO:0018565 True urachal sinus congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018553 MONDO:0018565 True urachal diverticulum congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018555 MONDO:0002146 True hypogonadotropic hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018556 MONDO:0018215 True Lambert-Eaton myasthenic syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018559 MONDO:0019356 True fetal lower urinary tract obstruction urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018564 MONDO:0016885 True 3p25.3 microdeletion syndrome partial deletion of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018566 MONDO:0018230 True short stature-advanced bone age-early-onset osteoarthritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018567 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018570 MONDO:0015327 True hypophosphatasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018571 MONDO:0016904 True contractures-developmental delay-Pierre Robin syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018572 MONDO:0015159 True severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0016387 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0019046 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018576 MONDO:0020127 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018581 MONDO:0008491 True progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018586 MONDO:0019268 True zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018587 MONDO:0015923 True non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018588 MONDO:0019065 True ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018589 MONDO:0019065 True AApoAIV amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018590 MONDO:0019065 True ABeta2M amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018591 MONDO:0018634 True ITM2B amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018591 MONDO:0024237 True ITM2B amyloidosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018592 MONDO:0018593 True cutaneous polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018593 MONDO:0019170 True primary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018594 MONDO:0019170 True secondary polyarteritis nodosa polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018595 MONDO:0018593 True single-organ polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018596 MONDO:0018593 True systemic polyarteritis nodosa primary polyarteritis nodosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018604 MONDO:0018630 True familial colorectal cancer type X hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018605 MONDO:0019214 True disorders of pentose/polyol metabolism inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018610 MONDO:0020377 True early-onset posterior subcapsular cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018612 MONDO:0005420 True congenital hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018613 MONDO:0019065 True AH amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018614 MONDO:0020070 True undetermined early-onset epileptic encephalopathy neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018614 MONDO:0020071 True undetermined early-onset epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018615 MONDO:0015530 True hemicrania continua trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018621 MONDO:0017594 True lymphoplasmacytic lymphoma without IgM production indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018625 MONDO:0008491 True classic stiff person syndrome stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018626 MONDO:0000827 True paratyphoid fever salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018628 MONDO:0017341 True HIV-associated cancer virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018629 MONDO:0008491 True focal stiff limb syndrome stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018630 MONDO:0015356 True hereditary nonpolyposis colon cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018632 MONDO:0015159 True 11q22.2q22.3 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018632 MONDO:0016910 True 11q22.2q22.3 microdeletion syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018633 MONDO:0015159 True 20q11.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018633 MONDO:0016918 True 20q11.2 microdeletion syndrome partial deletion of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018635 MONDO:0005380 True idiopathic phalangeal acro-osteolysis osteonecrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018638 MONDO:0006510 True pseudohypoaldosteronism renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018639 MONDO:0019054 True caudal regression-sirenomelia spectrum congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018640 MONDO:0018882 True secondary vasculitis vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018642 MONDO:0018814 True NIK deficiency non-SCID combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018645 MONDO:0017287 True IgG4-related sclerosing cholangitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018645 MONDO:0018646 True IgG4-related sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018646 MONDO:0004789 True sclerosing cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018647 MONDO:0018646 True secondary sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018653 MONDO:0016362 True Polymerase proofreading-related adenomatous polyposis attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018654 MONDO:0016105 True idiopathic dropped head syndrome acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018656 MONDO:0100309 True tremor-ataxia-central hypomyelination syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018658 MONDO:0015159 True 19p13.3 microduplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018658 MONDO:0018659 True 19p13.3 microduplication syndrome partial duplication of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018659 MONDO:0016937 True partial duplication of the short arm of chromosome 19 partial duplication of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018662 MONDO:0015262 True autosomal recessive brachyolmia brachyolmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018663 MONDO:0016763 True regressive spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018664 MONDO:0019512 True ectopia cordis congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018666 MONDO:0005564 True hepatoblastoma embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018667 MONDO:0002037 True pleural empyema pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018671 MONDO:0017287 True IgG4-related kidney disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018672 MONDO:0017287 True IgG4-related aortitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018673 MONDO:0017287 True IgG4-related pachymeningitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018674 MONDO:0017287 True IgG4-related submandibular gland disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018675 MONDO:0017287 True IgG4-related ophthalmic disorder IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018676 MONDO:0017287 True eosinophilic angiocentric fibrosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018677 MONDO:0019512 True visceral heterotaxy congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018678 MONDO:0005570 True polyclonal hyperviscosity syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018679 MONDO:0017287 True primary cutaneous plasmacytosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018680 MONDO:0017287 True cutaneous pseudolymphoma IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018681 MONDO:0015159 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018681 MONDO:0018234 True neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018683 MONDO:0019269 True acquired ichthyosis ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018688 MONDO:0019337 True anti-p200 pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018689 MONDO:0004959 True plasma cell leukemia plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018690 MONDO:0002254 True Holmes-Adie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018692 MONDO:0018926 True variably protease-sensitive prionopathy human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018695 MONDO:0005812 True avian influenza influenza UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018697 MONDO:0015159 True 1p35.2 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018697 MONDO:0016883 True 1p35.2 microdeletion syndrome partial deletion of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018705 MONDO:0024237 True infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018710 MONDO:0015159 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018710 MONDO:0019716 True megalencephaly-severe kyphoscoliosis-overgrowth syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018711 MONDO:0015159 True intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018712 MONDO:0021121 True composite hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018713 MONDO:0021121 True retiform hemangioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018714 MONDO:0021121 True primary intralymphatic angioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018715 MONDO:0006500 True congenital hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018717 MONDO:0002013 True mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018724 MONDO:0015159 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018724 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018725 MONDO:0015159 True corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018733 MONDO:0013578 True intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018735 MONDO:0002013 True multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018746 MONDO:0019337 True mucous membrane pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018747 MONDO:0019337 True acquired epidermolysis bullosa autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018748 MONDO:0019337 True linear IgA Dermatosis autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018749 MONDO:0017145 True hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018756 MONDO:0007179 True euthyroid Graves orbitopathy autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018759 MONDO:0016106 True childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018760 MONDO:0015159 True DeSanto-Shinawi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018761 MONDO:0018078 True SMARCA4-deficient sarcoma of thorax soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018762 MONDO:0019824 True non-acquired combined pituitary hormone deficiency non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018763 MONDO:0020022 True tubulinopathy-associated dysgyria central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018768 MONDO:0016168 True familial cold autoinflammatory syndrome cryopyrin-associated periodic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018769 MONDO:0005707 True isosporiasis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018770 MONDO:0005308 True Jeune syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018770 MONDO:0015461 True Jeune syndrome short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018770 MONDO:0015962 True Jeune syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018772 MONDO:0005308 True Joubert syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018773 MONDO:0015362 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018773 MONDO:0018943 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018774 MONDO:0019270 True erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018776 MONDO:0015626 True demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018777 MONDO:0019280 True autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018778 MONDO:0015626 True intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018781 MONDO:0017666 True KID syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018781 MONDO:0019287 True KID syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0018794 MONDO:0021181 True cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018800 MONDO:0018555 True Kallmann syndrome hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018801 MONDO:0003150 True congenital bilateral absence of vas deferens male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018801 MONDO:0003847 True congenital bilateral absence of vas deferens hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018804 MONDO:0015762 True MYO5B-related progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018805 MONDO:0002887 True bile duct cyst bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018810 MONDO:0043009 True lethal hydranencephaly-diaphragmatic hernia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018813 MONDO:0017595 True high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018814 MONDO:0015131 True non-SCID combined immunodeficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018815 MONDO:0019060 True aneurysmal bone cyst bone neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018816 MONDO:0018646 True isolated neonatal sclerosing cholangitis sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018818 MONDO:0016218 True facial diplegia with paresthesias Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018820 MONDO:0024237 True recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018822 MONDO:0015159 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018822 MONDO:0020022 True global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018823 MONDO:0015159 True X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018824 MONDO:0002922 True pyoderma gangrenosum pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018824 MONDO:0019751 True pyoderma gangrenosum autoinflammatory syndrome UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018825 MONDO:0015159 True PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018826 MONDO:0006702 True Lewis-Sumner syndrome chronic inflammatory demyelinating polyradiculoneuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018828 MONDO:0009626 True pseudo-TORCH syndrome 2 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018829 MONDO:0010011 True familial schizencephaly schizencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018837 MONDO:0018640 True postinfectious vasculitis secondary vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018838 MONDO:0002320 True lissencephaly spectrum disorders congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018839 MONDO:0010011 True acquired schizencephaly schizencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018841 MONDO:0005523 True congenital bile acid synthesis defect steroid inherited metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018842 MONDO:0015157 True primary effusion lymphoma human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018842 MONDO:0017343 True primary effusion lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018842 MONDO:0018905 True primary effusion lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018843 MONDO:0002714 True embryonal carcinoma of the central nervous system central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018843 MONDO:0005440 True embryonal carcinoma of the central nervous system embryonal carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018843 MONDO:0020574 True embryonal carcinoma of the central nervous system central nervous system nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018844 MONDO:0018565 True urachal cyst congenital urachal anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018845 MONDO:0020122 True focal myositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018846 MONDO:0020040 True penile agenesis 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018848 MONDO:0017287 True IgG4-related retroperitoneal fibrosis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018849 MONDO:0006999 True dentinogenesis imperfecta tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018850 MONDO:0003413 True proliferating trichilemmal cyst hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018852 MONDO:0001703 True achromatopsia color vision disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018855 MONDO:0019268 True keratosis pilaris atrophicans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018856 MONDO:0015301 True lichen amyloidosis primary cutaneous amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018857 MONDO:0020568 True creeping myiasis cutaneous myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018858 MONDO:0004907 True Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018861 MONDO:0016387 True Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018865 MONDO:0017672 True striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018866 MONDO:0002254 True Aicardi-Goutieres syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018866 MONDO:0003778 True Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018866 MONDO:0019046 True Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018868 MONDO:0015547 True metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018868 MONDO:0019046 True metachromatic leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018868 MONDO:0019255 True metachromatic leukodystrophy sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018868 MONDO:0020127 True metachromatic leukodystrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018869 MONDO:0018838 True cobblestone lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018870 MONDO:0005385 True arterial calcification of infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018871 MONDO:0015667 True acute myelomonocytic leukemia M4 acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018872 MONDO:0015667 True acute megakaryoblastic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018873 MONDO:0015923 True anterior cutaneous nerve entrapment syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018874 MONDO:0004643 True acute myeloid leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018874 MONDO:0010643 True acute myeloid leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018875 MONDO:0000426 True Li-Fraumeni syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018875 MONDO:0015356 True Li-Fraumeni syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018876 MONDO:0017595 True mantle cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018878 MONDO:0002254 True branchiootic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018878 MONDO:0015161 True branchiootic syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018879 MONDO:0004907 True lichen planopilaris alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018881 MONDO:0015756 True myelodysplastic syndrome myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018881 MONDO:0021058 True myelodysplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018882 MONDO:0005385 True vasculitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018883 MONDO:0020087 True Berardinelli-Seip congenital lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018884 MONDO:0019296 True Roch-Leri mesosomatous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018889 MONDO:0016195 True hyaline body myopathy qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018889 MONDO:0019952 True hyaline body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018890 MONDO:0019810 True Lyell syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018892 MONDO:0015405 True Wyburn-Mason syndrome cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018892 MONDO:0019293 True Wyburn-Mason syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0019293 True Cobb syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018894 MONDO:0020127 True distal hereditary motor neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018894 MONDO:0024257 True distal hereditary motor neuropathy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018895 MONDO:0016625 True Plummer-Vinson syndrome acquired deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018896 MONDO:0002305 True thrombotic thrombocytopenic purpura thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018897 MONDO:0015816 True primary cutaneous CD30+ T-cell lymphoproliferative disease indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018898 MONDO:0002898 True primary cutaneous lymphoma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018898 MONDO:0017207 True primary cutaneous lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018899 MONDO:0024237 True posterior cortical atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018901 MONDO:0000591 True left ventricular noncompaction intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0000385 True hepatocellular adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0000627 True hepatocellular adenoma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0004972 True hepatocellular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018902 MONDO:0024477 True hepatocellular adenoma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018903 MONDO:0005707 True sarcocystosis coccidiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018905 MONDO:0004949 True diffuse large B-cell lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018905 MONDO:0017595 True diffuse large B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018906 MONDO:0004949 True follicular lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018906 MONDO:0017594 True follicular lymphoma indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018907 MONDO:0000628 True craniopharyngioma central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018907 MONDO:0002532 True craniopharyngioma squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018907 MONDO:0002720 True craniopharyngioma sella turcica neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018907 MONDO:0036976 True craniopharyngioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018908 MONDO:0005062 True non-Hodgkin lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018910 MONDO:0018134 True oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018910 MONDO:0019290 True oculocutaneous albinism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018911 MONDO:0015967 True maturity-onset diabetes of the young monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018914 MONDO:0004907 True hypotrichosis simplex alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018919 MONDO:0002254 True McCune-Albright syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018919 MONDO:0018230 True McCune-Albright syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018920 MONDO:0016338 True peripartum cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018921 MONDO:0002254 True Meckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018921 MONDO:0005308 True Meckel syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018921 MONDO:0043009 True Meckel syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018922 MONDO:0016450 True cold agglutinin disease autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018923 MONDO:0022760 True 22q11.2 deletion syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018924 MONDO:0016073 True microphthalmia, Lenz type syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018927 MONDO:0015530 True SUNCT syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018929 MONDO:0018381 True medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018931 MONDO:0031422 True mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018931 MONDO:0800088 True mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016330 True cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016338 True cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018935 MONDO:0004948 True hairy cell leukemia B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018938 MONDO:0019249 True mucopolysaccharidosis type 4 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018939 MONDO:0019950 True muscle-eye-brain disease congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018940 MONDO:0020124 True congenital myasthenic syndrome neuromuscular junction disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018941 MONDO:0020568 True furuncular myiasis cutaneous myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018942 MONDO:0016105 True macrophagic myofasciitis acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018944 MONDO:0002872 True gestational trophoblastic neoplasm trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018944 MONDO:0021148 True gestational trophoblastic neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018945 MONDO:0016987 True McLeod neuroacanthocytosis syndrome neuroacanthocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018946 MONDO:0020022 True rhombencephalosynapsis central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018947 MONDO:0019952 True centronuclear myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0018948 MONDO:0016197 True multiminicore myopathy qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018949 MONDO:0020121 True distal myopathy muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018950 MONDO:0019215 True 3-methylcrotonyl-CoA carboxylase deficiency classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018951 MONDO:0016108 True distal myopathy with vocal cord weakness autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018953 MONDO:0018075 True parietal foramina neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018953 MONDO:0018230 True parietal foramina skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018954 MONDO:0000426 True Loeys-Dietz syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018954 MONDO:0002254 True Loeys-Dietz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018954 MONDO:0017310 True Loeys-Dietz syndrome Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018955 MONDO:0021098 True recurrent respiratory papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018957 MONDO:0015923 True pudendal neuralgia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018959 MONDO:0016120 True potassium-aggravated myotonia myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018961 MONDO:0005105 True familial melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018963 MONDO:0019050 True hereditary methemoglobinemia inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018964 MONDO:0016624 True homocystinuria without methylmalonic aciduria inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018964 MONDO:0019220 True homocystinuria without methylmalonic aciduria inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018965 MONDO:0002254 True Alport syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018967 MONDO:0010615 True short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia isolated growth hormone deficiency type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018968 MONDO:0018075 True iniencephaly neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018974 MONDO:0019337 True paraneoplastic pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018975 MONDO:0019755 True neurofibromatosis type 1 developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018975 MONDO:0021060 True neurofibromatosis type 1 RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018975 MONDO:0021061 True neurofibromatosis type 1 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018977 MONDO:0015923 True polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018978 MONDO:0017287 True IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018979 MONDO:0015923 True multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018980 MONDO:0018237 True acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018981 MONDO:0020070 True benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018983 MONDO:0001584 True Tolosa-Hunt syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018992 MONDO:0017287 True IgG4-related thyroid disease IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018993 MONDO:0015626 True Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018994 MONDO:0015626 True Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018995 MONDO:0015626 True Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018996 MONDO:0020127 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018996 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0018997 MONDO:0002254 True Noonan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018997 MONDO:0020297 True Noonan syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018998 MONDO:0019118 True Leber congenital amaurosis inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018999 MONDO:0017773 True LCAT deficiency hypoalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019002 MONDO:0016729 True Lhermitte-Duclos disease mixed neuronal-glial tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019002 MONDO:0020022 True Lhermitte-Duclos disease central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019003 MONDO:0015075 True multiple endocrine neoplasia type 2 thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019003 MONDO:0017169 True multiple endocrine neoplasia type 2 multiple endocrine neoplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019004 MONDO:0002367 True kidney Wilms tumor kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019004 MONDO:0006058 True kidney Wilms tumor Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019005 MONDO:0006025 True nephronophthisis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019008 MONDO:0017290 True benign recurrent intrahepatic cholestasis familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019008 MONDO:0017755 True benign recurrent intrahepatic cholestasis inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019009 MONDO:0017094 True isolated focal cortical dysplasia cerebral cortical dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0017182 True congenital isolated hyperinsulinism familial hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019011 MONDO:0015626 True Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019016 MONDO:0009637 True maternally-inherited progressive external ophthalmoplegia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019016 MONDO:0016387 True maternally-inherited progressive external ophthalmoplegia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019018 MONDO:0004994 True Tako-tsubo cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019019 MONDO:0005516 True osteogenesis imperfecta osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019023 MONDO:0007950 True cutaneous mastocytosis mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019024 MONDO:0005089 True mast cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019024 MONDO:0007950 True mast cell sarcoma mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019025 MONDO:0003079 True extracutaneous mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019025 MONDO:0016586 True extracutaneous mastocytoma systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019026 MONDO:0017198 True autosomal recessive osteopetrosis osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019031 MONDO:0019403 True thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019033 MONDO:0021154 True primary cutis verticis gyrata dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019035 MONDO:0002116 True pancreatoblastoma malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019037 MONDO:0005395 True progressive supranuclear palsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019037 MONDO:0020257 True progressive supranuclear palsy supranuclear oculomotor palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019037 MONDO:0024237 True progressive supranuclear palsy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019042 MONDO:0019755 True multiple congenital anomalies/dysmorphic syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019052 MONDO:0003847 True inborn errors of metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019052 MONDO:0005066 True inborn errors of metabolism metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019053 MONDO:0019052 True peroxisomal disease inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019054 MONDO:0019755 True congenital limb malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019056 MONDO:0005071 True neuromuscular disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019064 MONDO:0003757 True hereditary spastic paraplegia paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019064 MONDO:0024237 True hereditary spastic paraplegia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019067 MONDO:0018170 True idiopathic steroid-sensitive nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019068 MONDO:0019722 True congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019071 MONDO:0019287 True pure hair and nail ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019072 MONDO:0001751 True intrahepatic cholestasis cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019074 MONDO:0011119 True bilateral acute depigmentation of the iris iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019077 MONDO:0002093 True warty dyskeratoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019078 MONDO:0003847 True Ritscher-Schinzel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019078 MONDO:0015159 True Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019078 MONDO:0020022 True Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019079 MONDO:0024257 True proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019080 MONDO:0004907 True alopecia totalis alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019082 MONDO:0019337 True bullous pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019086 MONDO:0006181 True carcinoma of esophagus digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019086 MONDO:0007576 True carcinoma of esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019091 MONDO:0005087 True bronchopulmonary dysplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019094 MONDO:0016511 True congenital Epstein-Barr virus infection infectious embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019095 MONDO:0000314 True plague primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019100 MONDO:0005071 True neuromyelitis optica nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019100 MONDO:0044685 True neuromyelitis optica autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019107 MONDO:0020102 True Rh deficiency syndrome hereditary stomatocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019109 MONDO:0015923 True CANOMAD syndrome acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019112 MONDO:0018215 True cancer-associated retinopathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019113 MONDO:0016058 True benign paroxysmal torticollis of infancy paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019115 MONDO:0019182 True obesity due to melanocortin 4 receptor deficiency inherited obesity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019119 MONDO:0019056 True muscular channelopathy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019120 MONDO:0019278 True pili bifurcati hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019121 MONDO:0002312 True pneumocystosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019122 MONDO:0015927 True idiopathic acute eosinophilic pneumonia idiopathic eosinophilic pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019124 MONDO:0015492 True microscopic polyangiitis anti-neutrophil cytoplasmic antibody-associated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019125 MONDO:0002342 True relapsing polychondritis chondromalacia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019127 MONDO:0020122 True polymyositis acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019131 MONDO:0015929 True ossification anomalies-psychomotor developmental delay syndrome thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019132 MONDO:0020022 True spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019133 MONDO:0015159 True visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019134 MONDO:0002682 True central neurocytoma cerebral ventricle cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019134 MONDO:0016729 True central neurocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019136 MONDO:0002312 True Zygomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019137 MONDO:0024361 True non-24-hour sleep-wake syndrome circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019141 MONDO:0006602 True porokeratosis of Mibelli porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019142 MONDO:0015951 True inherited porphyria hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019142 MONDO:0017754 True inherited porphyria inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019143 MONDO:0004664 True angiostrongyliasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019144 MONDO:0002304 True hereditary thrombophilia due to congenital protein S deficiency protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019146 MONDO:0015979 True inherited susceptibility to mycobacterial diseases hereditary predisposition to infections UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019147 MONDO:0002875 True myiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019148 MONDO:0800449 True Wolman disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0019149 MONDO:0800449 True cholesteryl ester storage disease lysosomal acid lipase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0019151 MONDO:0019118 True oligocone trichromacy inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019152 MONDO:0019118 True Oguchi disease inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019153 MONDO:0015159 True brain malformation-congenital heart disease-postaxial polydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019154 MONDO:0020040 True androgen insensitivity syndrome 46,XY disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019155 MONDO:0005151 True Leydig cell hypoplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019157 MONDO:0015194 True myelodysplastic syndrome with ring sideroblasts sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019157 MONDO:0018881 True myelodysplastic syndrome with ring sideroblasts myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019158 MONDO:0016345 True tropical endomyocardial fibrosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019159 MONDO:0016345 True Loeffler endocarditis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019161 MONDO:0015962 True pseudohypoaldosteronism type 1 inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019164 MONDO:0016905 True 6q terminal deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019167 MONDO:0006794 True immunoglobulin A vasculitis hypersensitivity vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019167 MONDO:0015491 True immunoglobulin A vasculitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0016789 True pyruvate dehydrogenase deficiency pyruvate metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0019214 True pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019169 MONDO:0020127 True pyruvate dehydrogenase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019172 MONDO:0002289 True aniridia iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019173 MONDO:0005108 True rabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019173 MONDO:0020010 True rabies infectious disorder of the nervous system UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019177 MONDO:0019046 True odontoleukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019178 MONDO:0015161 True auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019179 MONDO:0016908 True monosomy 9q22.3 partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0000426 True hereditary hemorrhagic telangiectasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019180 MONDO:0016231 True hereditary hemorrhagic telangiectasia capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0019755 True hereditary hemorrhagic telangiectasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019181 MONDO:0000509 True non-syndromic X-linked intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019186 MONDO:0000314 True Q fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019187 MONDO:0003847 True Axenfeld-Rieger syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019187 MONDO:0015161 True Axenfeld-Rieger syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019188 MONDO:0015159 True Rubinstein-Taybi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019188 MONDO:0018234 True Rubinstein-Taybi syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019188 MONDO:0019054 True Rubinstein-Taybi syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019189 MONDO:0019052 True inborn disorder of amino acid and other organic acid metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019190 MONDO:0017380 True juvenile polyposis of infancy juvenile polyposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019192 MONDO:0020088 True AKT2-related familial partial lipodystrophy familial partial lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019193 MONDO:0020089 True acquired generalized lipodystrophy acquired lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019193 MONDO:0027766 True acquired generalized lipodystrophy generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019195 MONDO:0016112 True hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019197 MONDO:0019253 True folinic acid-responsive seizures metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019198 MONDO:0017255 True sympathetic ophthalmia panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019198 MONDO:0017634 True sympathetic ophthalmia non-infectious anterior uveitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019200 MONDO:0019118 True retinitis pigmentosa inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019202 MONDO:0018078 True myxofibrosarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019203 MONDO:0002429 True acute interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019204 MONDO:0002429 True respiratory bronchiolitis-interstitial lung disease syndrome idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019205 MONDO:0019287 True trichodysplasia-amelogenesis imperfecta syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019210 MONDO:0002120 True cutaneous neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019210 MONDO:0002656 True cutaneous neuroendocrine carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019210 MONDO:0003363 True cutaneous neuroendocrine carcinoma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019210 MONDO:0017341 True cutaneous neuroendocrine carcinoma virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019211 MONDO:0019284 True isolated congenital anonychia inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019212 MONDO:0006602 True disseminated superficial actinic porokeratosis porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019214 MONDO:0019052 True inborn carbohydrate metabolic disorder inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019215 MONDO:0000688 True classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019218 MONDO:0019256 True inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019219 MONDO:0019250 True inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019220 MONDO:0017758 True inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019222 MONDO:0019189 True inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019223 MONDO:0019243 True disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019225 MONDO:0019214 True disorder of gluconeogenesis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019226 MONDO:0017706 True glucose transport disorder disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019228 MONDO:0004736 True inborn disorder of histidine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019228 MONDO:0019189 True inborn disorder of histidine metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019229 MONDO:0019223 True inborn disorder of ketolysis disorder of fatty acid and ketone body metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019230 MONDO:0019189 True inborn disorder of ornithine or proline metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019231 MONDO:0018605 True inborn disorder of pentose phosphate metabolism disorders of pentose/polyol metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019234 MONDO:0019046 True peroxisome biogenesis disorder leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0019234 MONDO:0019053 True peroxisome biogenesis disorder peroxisomal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019234 MONDO:0020127 True peroxisome biogenesis disorder hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019236 MONDO:0019254 True inborn disorder of purine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019237 MONDO:0019250 True inborn disorder of pyridoxine metabolism inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019238 MONDO:0019254 True inborn disorder of pyrimidine metabolism inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019239 MONDO:0019189 True inborn disorder of serine family metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019240 MONDO:0015327 True sterol biosynthesis disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019240 MONDO:0019256 True sterol biosynthesis disorder sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019241 MONDO:0019189 True inborn disorder of the gamma-glutamyl cycle inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019242 MONDO:0019189 True inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019243 MONDO:0019052 True inborn disorder of energy metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019245 MONDO:0002561 True lysosomal lipid storage disorder lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019246 MONDO:0002561 True inborn disorder of lysosomal amino acid transport lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019248 MONDO:0015327 True mucolipidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019248 MONDO:0017731 True mucolipidosis glycoproteinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019249 MONDO:0002561 True mucopolysaccharidosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019249 MONDO:0015327 True mucopolysaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019250 MONDO:0019052 True inborn disorder of biogenic amine metabolism and transport inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0015327 True oligosaccharidosis developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0017731 True oligosaccharidosis glycoproteinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019253 MONDO:0019250 True metabolic disease involving other neurotransmitter deficiency inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019254 MONDO:0019052 True inborn disorder of purine or pyrimidine metabolism inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019255 MONDO:0019245 True sphingolipidosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019256 MONDO:0002525 True sterol metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019257 MONDO:0006507 True hemochromatosis type 2 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019258 MONDO:0009861 True mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019259 MONDO:0009861 True classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0016295 True adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0020143 True adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0016295 True infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0020143 True infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0016295 True juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0020143 True juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019264 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019265 MONDO:0017186 True diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019266 MONDO:0019751 True SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019267 MONDO:0009612 True vitamin B12-unresponsive methylmalonic acidemia type mut- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019269 MONDO:0019268 True ichthyosis epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019270 MONDO:0019268 True erythrokeratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019272 MONDO:0019268 True hereditary palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019276 MONDO:0019268 True inherited epidermolysis bullosa epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019280 MONDO:0002917 True hypertrichosis disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019284 MONDO:0002884 True inherited isolated nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019287 MONDO:0002254 True ectodermal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019287 MONDO:0021026 True ectodermal dysplasia syndrome hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019288 MONDO:0005093 True skin pigmentation disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019289 MONDO:0019288 True hyperpigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019290 MONDO:0019288 True hypopigmentation of the skin skin pigmentation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019293 MONDO:0005093 True skin vascular disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019297 MONDO:0005833 True lymphedema lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019306 MONDO:0017265 True congenital non-bullous ichthyosiform erythroderma autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019308 MONDO:0017612 True junctional epidermolysis bullosa inversa junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019309 MONDO:0017612 True late-onset junctional epidermolysis bullosa junctional epidermolysis bullosa UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0017305 True Hermansky-Pudlak syndrome syndromic oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0017739 True Hermansky-Pudlak syndrome disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019312 MONDO:0021181 True Hermansky-Pudlak syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019314 MONDO:0019023 True cutaneous mastocytoma cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019315 MONDO:0019023 True diffuse cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019316 MONDO:0019023 True maculopapular cutaneous mastocytosis cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019318 MONDO:0016831 True inflammatory linear verrucous epidermal nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019319 MONDO:0016831 True verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019320 MONDO:0016831 True acanthokeratolytic verrucous nevus linear verrucous nevus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019321 MONDO:0021106 True atypical Werner syndrome laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019323 MONDO:0006594 True pemphigus erythematosus pemphigus SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019324 MONDO:0006594 True pemphigus foliaceus pemphigus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019325 MONDO:0017318 True phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019326 MONDO:0017318 True phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019327 MONDO:0017318 True phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019329 MONDO:0002013 True microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019330 MONDO:0019278 True pili gemini hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019332 MONDO:0017675 True punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019333 MONDO:0015625 True autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019334 MONDO:0015625 True autosomal recessive hyperinsulinism due to Kir6.2 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019335 MONDO:0009861 True mild hyperphenylalaninemia phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019336 MONDO:0021055 True Gardner syndrome classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019337 MONDO:0002406 True autoimmune bullous skin disease dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019338 MONDO:0019751 True sarcoidosis autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019340 MONDO:0005554 True scleroderma rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019342 MONDO:0002254 True Seckel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019342 MONDO:0006025 True Seckel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019344 MONDO:0020122 True antisynthetase syndrome acquired idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019345 MONDO:0000314 True shigellosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019346 MONDO:0017734 True sialidosis type 1 sialidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019347 MONDO:0015947 True peeling skin syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019349 MONDO:0002254 True Sotos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019349 MONDO:0016904 True Sotos syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019349 MONDO:0018230 True Sotos syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019350 MONDO:0003689 True hereditary spherocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019353 MONDO:0005150 True Stargardt disease age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019354 MONDO:0002254 True Stickler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019355 MONDO:0005578 True adult-onset Still disease arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019356 MONDO:0019755 True urogenital tract malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019358 MONDO:0015327 True encephalopathy due to sulfite oxidase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019358 MONDO:0019222 True encephalopathy due to sulfite oxidase deficiency inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019359 MONDO:0001195 True Rocky mountain spotted fever spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019360 MONDO:0001195 True rickettsialpox spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019362 MONDO:0001246 True epidemic louse-borne typhus typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019364 MONDO:0001195 True pseudotyphus of California spotted fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019365 MONDO:0001246 True scrub typhus typhus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019366 MONDO:0019246 True free sialic acid storage disease inborn disorder of lysosomal amino acid transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019371 MONDO:0021107 True narcolepsy without cataplexy narcolepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019372 MONDO:0019060 True solitary bone cyst bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019373 MONDO:0006974 True desmoplastic small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019373 MONDO:0018078 True desmoplastic small round cell tumor soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019374 MONDO:0020043 True CAMOS syndrome autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019385 MONDO:0020640 True steroid-responsive encephalopathy associated with autoimmune thyroiditis autoimmune encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019387 MONDO:0015161 True macrostomia-preauricular tags-external ophthalmoplegia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019388 MONDO:0015161 True pelvis syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0001713 True Fanconi anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019391 MONDO:0015161 True Fanconi anemia multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0018234 True Fanconi anemia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0019054 True Fanconi anemia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019392 MONDO:0021110 True syringocystadenoma papilliferum sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019393 MONDO:0019218 True idiopathic malabsorption due to bile acid synthesis defects inborn disorder of bile acid synthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019396 MONDO:0019722 True collagen type III glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019398 MONDO:0016112 True desmin-related myopathy with Mallory body-like inclusions hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019399 MONDO:0019119 True Isaac syndrome muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019402 MONDO:0000984 True beta thalassemia thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019402 MONDO:0017145 True beta thalassemia beta-thalassemia and related diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019403 MONDO:0003689 True congenital dyserythropoietic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019404 MONDO:0002547 True perineurioma nerve sheath neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019404 MONDO:0016749 True perineurioma tumor of cranial and spinal nerves UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019405 MONDO:0024237 True facial onset sensory and motor neuronopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019406 MONDO:0019695 True craniofacial conodysplasia acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019407 MONDO:0000426 True microcephalic osteodysplastic dysplasia, Saul-Wilson type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019407 MONDO:0005497 True microcephalic osteodysplastic dysplasia, Saul-Wilson type bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019408 MONDO:0019701 True Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0019412 MONDO:0018230 True dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019413 MONDO:0018234 True ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019416 MONDO:0015159 True X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019418 MONDO:0015159 True X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019420 MONDO:0015159 True X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019422 MONDO:0015159 True X-linked intellectual disability, Stevenson type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019423 MONDO:0015159 True X-linked intellectual disability, Stoll type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019427 MONDO:0024237 True X-linked neurodegenerative syndrome, Bertini type inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019429 MONDO:0024237 True X-linked neurodegenerative syndrome, Hamel type inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019430 MONDO:0016612 True X-linked intellectual disability-ataxia-apraxia syndrome X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019432 MONDO:0018456 True rheumatoid factor-negative juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019433 MONDO:0011429 True oligoarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019434 MONDO:0011429 True systemic-onset juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019435 MONDO:0018456 True rheumatoid factor-positive polyarticular juvenile idiopathic arthritis polyarticular juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019436 MONDO:0011429 True psoriasis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019437 MONDO:0011429 True enthesitis-related juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0016330 True AL amyloidosis non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0016345 True AL amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019439 MONDO:0016345 True AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019440 MONDO:0018590 True wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019441 MONDO:0016340 True ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019443 MONDO:0000153 True dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019443 MONDO:0005453 True dextro-looped transposition of the great arteries congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019444 MONDO:0016128 True trichinellosis parasitic myositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019446 MONDO:0018432 True localized lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019447 MONDO:0018432 True atypical lichen myxedematosus lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019448 MONDO:0020073 True benign adult familial myoclonic epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019449 MONDO:0015148 True lissencephaly type 3-familial fetal akinesia sequence syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019450 MONDO:0018838 True lissencephaly with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019451 MONDO:0001014 True chronic neutrophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019451 MONDO:0020076 True chronic neutrophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019452 MONDO:0020076 True myeloproliferative neoplasm, unclassifiable myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019453 MONDO:0018881 True myelodysplastic syndrome with multilineage dysplasia myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019454 MONDO:0018881 True myelodysplastic syndrome with excess blasts myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019455 MONDO:0015667 True acute panmyelosis with myelofibrosis acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019456 MONDO:0018874 True acute myeloid leukemia with multilineage dysplasia acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019457 MONDO:0018874 True therapy related acute myeloid leukemia and myelodysplastic syndrome acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019458 MONDO:0015667 True acute basophilic leukemia acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019460 MONDO:0018874 True acute leukemia of ambiguous lineage acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019461 MONDO:0001023 True B-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019461 MONDO:0004949 True B-cell prolymphocytic leukemia neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019461 MONDO:0017595 True B-cell prolymphocytic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019462 MONDO:0017604 True splenic marginal zone lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019463 MONDO:0004959 True non-amyloid monoclonal immunoglobulin deposition disease plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019464 MONDO:0004959 True heavy chain disease plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019465 MONDO:0017604 True nodal marginal zone B-cell lymphoma marginal zone lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019466 MONDO:0017343 True lymphomatoid granulomatosis Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019466 MONDO:0018905 True lymphomatoid granulomatosis diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0015760 True CD4+/CD56+ hematodermic neoplasm T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019468 MONDO:0001023 True T-cell prolymphocytic leukemia prolymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019469 MONDO:0001014 True T-cell large granular lymphocyte leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019469 MONDO:0005046 True T-cell large granular lymphocyte leukemia immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019469 MONDO:0005402 True T-cell large granular lymphocyte leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019470 MONDO:0001014 True aggressive NK-cell leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019471 MONDO:0003660 True adult T-cell leukemia/lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019471 MONDO:0015760 True adult T-cell leukemia/lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019471 MONDO:0017341 True adult T-cell leukemia/lymphoma virus associated tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019472 MONDO:0005062 True extranodal nasal NK/T cell lymphoma lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019472 MONDO:0017343 True extranodal nasal NK/T cell lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019473 MONDO:0015760 True enteropathy-associated T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019474 MONDO:0015760 True hepatosplenic T-cell lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019475 MONDO:0015816 True subcutaneous panniculitis-like T-cell lymphoma indolent primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019476 MONDO:0015758 True primary cutaneous peripheral T-cell lymphoma not otherwise specified primary cutaneous T-cell lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019478 MONDO:0003660 True adult nodular lymphocyte predominant Hodgkin lymphoma adult lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019478 MONDO:0044778 True adult nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019479 MONDO:0006247 True histiocytic sarcoma histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019480 MONDO:0020082 True Langerhans cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019482 MONDO:0020082 True dendritic cell sarcoma not otherwise specified dendritic cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019483 MONDO:0005062 True methotrexate-associated lymphoproliferative disorders lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019483 MONDO:0020083 True methotrexate-associated lymphoproliferative disorders immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0020071 True idiopathic hemiconvulsion-hemiplegia syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0020072 True idiopathic hemiconvulsion-hemiplegia syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019487 MONDO:0020072 True epilepsy with myoclonic absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019488 MONDO:0020071 True myoclonic epilepsy in non-progressive encephalopathies infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019489 MONDO:0017666 True diffuse palmoplantar keratoderma - acrocyanosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019490 MONDO:0000992 True progressive familial heart block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019496 MONDO:0002082 True neuroendocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019498 MONDO:0002875 True tungiasis parasitic ectoparasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019499 MONDO:0001967 True Turner syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019499 MONDO:0017975 True Turner syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019499 MONDO:0019852 True Turner syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019500 MONDO:0020539 True extragonadal teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019501 MONDO:0002254 True Usher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019501 MONDO:0006025 True Usher syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019502 MONDO:0006025 True autosomal recessive non-syndromic intellectual disability autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019503 MONDO:0003847 True anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019503 MONDO:0005328 True anterior segment dysgenesis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019507 MONDO:0004038 True amelogenesis imperfecta dental enamel hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019508 MONDO:0002254 True van der Woude syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019508 MONDO:0015161 True van der Woude syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019509 MONDO:0015491 True cutaneous leukocytoclastic angiitis immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019514 MONDO:0002405 True hepatic veno-occlusive disease hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019516 MONDO:0002311 True exudative vitreoretinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019517 MONDO:0018094 True Waardenburg syndrome type 2 Waardenburg syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019522 MONDO:0006543 True recessive dystrophic epidermolysis bullosa-generalized other epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019524 MONDO:0015231 True Bartter syndrome type 4 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019525 MONDO:0019852 True tetrasomy X inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019526 MONDO:0015491 True erythema elevatum diutinum immune complex mediated vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019532 MONDO:0020108 True autoimmune hemolytic anemia, warm type autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019533 MONDO:0016450 True paroxysmal cold hemoglobinuria autoimmune hemolytic anemia, cold type UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019534 MONDO:0020108 True mixed-type autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019535 MONDO:0020108 True drug-induced autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019536 MONDO:0034103 True Shiga toxin-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019537 MONDO:0002280 True hemoglobin D disease anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019537 MONDO:0019050 True hemoglobin D disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019538 MONDO:0016541 True Gaisbock syndrome acquired secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019548 MONDO:0018778 True autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019552 MONDO:0019194 True centrifugal lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019553 MONDO:0019194 True drug-induced localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019554 MONDO:0019194 True idiopathic localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019555 MONDO:0019194 True panniculitis and localized lipodystrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019556 MONDO:0019194 True pressure-induced localized lipoatrophy localized lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019557 MONDO:0015574 True chilblain lupus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019557 MONDO:0019293 True chilblain lupus skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019558 MONDO:0015574 True discoid lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019559 MONDO:0015574 True hypertrophic or verrucous lupus erythematosus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019560 MONDO:0015574 True lupus erythematosus tumidus chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019561 MONDO:0015574 True lupus erythematosus panniculitis chronic cutaneous lupus erythematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019562 MONDO:0019340 True localized scleroderma scleroderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019563 MONDO:0002254 True CREST syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019565 MONDO:0021181 True hereditary von Willebrand disease inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019569 MONDO:0016006 True Cockayne syndrome type 1 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019570 MONDO:0016006 True Cockayne syndrome type 2 Cockayne syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019571 MONDO:0000426 True autosomal dominant cutis laxa autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019572 MONDO:0006025 True autosomal recessive cutis laxa type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019573 MONDO:0017355 True autosomal recessive cutis laxa type 2 inborn disorder of proline metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019573 MONDO:0018230 True autosomal recessive cutis laxa type 2 skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019574 MONDO:0018178 True secondary intestinal lymphangiectasia intestinal lymphangiectasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019575 MONDO:0004907 True hypotrichosis simplex of the scalp alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019576 MONDO:0019316 True telangiectasia macularis eruptiva perstans maculopapular cutaneous mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019577 MONDO:0019211 True anonychia-onychodystrophy syndrome isolated congenital anonychia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019578 MONDO:0019446 True nodular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019579 MONDO:0019446 True discrete papular lichen myxedematosus localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019580 MONDO:0019446 True papular mucinosis of infancy localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019581 MONDO:0019446 True acral persistent papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019582 MONDO:0019446 True self-healing papular mucinosis localized lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019583 MONDO:0019447 True localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019584 MONDO:0019447 True localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019585 MONDO:0019447 True scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019587 MONDO:0000426 True autosomal dominant nonsyndromic hearing loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019588 MONDO:0006025 True hearing loss, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019600 MONDO:0015951 True xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019605 MONDO:0019722 True immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019606 MONDO:0015923 True simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019607 MONDO:0011429 True unspecified juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019609 MONDO:0015327 True Zellweger spectrum disorders developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019609 MONDO:0019234 True Zellweger spectrum disorders peroxisome biogenesis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019612 MONDO:0003429 True functioning gonadotropic adenoma functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019613 MONDO:0006373 True non-functioning pituitary adenoma pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019614 MONDO:0015127 True pituitary deficiency due to Rathke's pouch cysts pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019615 MONDO:0021227 True pituitary dermoid and epidermoid cysts adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019617 MONDO:0015127 True pituitary deficiency due to empty sella turcica syndrome pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019621 MONDO:0017019 True chronic pneumonitis of infancy interstitial lung disease specific to infancy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019622 MONDO:0002429 True non-specific interstitial pneumonia idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019623 MONDO:0010481 True hereditary angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019624 MONDO:0010481 True acquired angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019628 MONDO:0011119 True Rieger anomaly iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019629 MONDO:0000942 True sclerocornea corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019630 MONDO:0011119 True congenital ectropion uveae iridogoniodysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019631 MONDO:0004860 True persistent hyperplastic primary vitreous vitreous disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019632 MONDO:0000314 True Lyme disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019633 MONDO:0000314 True relapsing fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019634 MONDO:0018751 True familial nasal acilia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019636 MONDO:0018470 True renal agenesis, unilateral renal agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019637 MONDO:0005240 True renal hypoplasia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019640 MONDO:0018559 True posterior urethral valve fetal lower urinary tract obstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019642 MONDO:0017323 True vitamin D-dependent rickets, type 2 hypocalcemic rickets UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019643 MONDO:0018638 True transient pseudohypoaldosteronism pseudohypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019644 MONDO:0019638 True renal dysplasia, unilateral renal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019645 MONDO:0019638 True renal dysplasia, bilateral renal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019646 MONDO:0019639 True unilateral congenital megacalycosis congenital megacalycosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019647 MONDO:0019639 True congenital bilateral megacalycosis congenital megacalycosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019648 MONDO:0005516 True achondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019648 MONDO:0019694 True achondrogenesis spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019659 MONDO:0007043 True Pfeiffer syndrome type 1 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019660 MONDO:0007043 True Pfeiffer syndrome type 2 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019661 MONDO:0007043 True Pfeiffer syndrome type 3 Pfeiffer syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019662 MONDO:0015461 True short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019665 MONDO:0000845 True monostotic fibrous dysplasia fibrous dysplasia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019666 MONDO:0100510 True spondyloepimetaphyseal dysplasia, PAPSS2 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019667 MONDO:0016761 True spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019669 MONDO:0019648 True hypochondrogenesis achondrogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019669 MONDO:0022800 True hypochondrogenesis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019670 MONDO:0016240 True ulnar hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019671 MONDO:0016240 True radial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019672 MONDO:0016240 True fibular hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019675 MONDO:0100510 True spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019681 MONDO:0009738 True juvenile sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019682 MONDO:0009738 True congenital sialidosis type 2 sialidosis type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019691 MONDO:0018230 True short rib dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019694 MONDO:0018230 True spondylodysplastic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019695 MONDO:0018230 True acromelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019696 MONDO:0005516 True acromesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019696 MONDO:0018230 True acromesomelic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019698 MONDO:0018230 True bent bone dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019701 MONDO:0018230 True chondrodysplasia punctata skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019702 MONDO:0018230 True neonatal osteosclerotic dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019707 MONDO:0018230 True primary osteolysis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019719 MONDO:0019755 True congenital anomaly of kidney and urinary tract developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019726 MONDO:0007407 True type II mixed cryoglobulinemia Cryoglobulinemic vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019727 MONDO:0007407 True mixed cryoglobulinemia type III Cryoglobulinemic vasculitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019728 MONDO:0019463 True heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019729 MONDO:0019463 True light and heavy chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019730 MONDO:0019463 True light chain deposition disease non-amyloid monoclonal immunoglobulin deposition disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019731 MONDO:0007099 True AApoAI amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019732 MONDO:0007099 True ALys amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019733 MONDO:0007099 True AFib amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019734 MONDO:0018010 True juvenile polymyositis juvenile idiopathic inflammatory myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019736 MONDO:0018904 True dense deposit disease primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019739 MONDO:0016244 True atypical hemolytic-uremic syndrome with anti-factor H antibodies atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019740 MONDO:0018896 True acquired thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019742 MONDO:0019005 True late-onset nephronophthisis nephronophthisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019745 MONDO:0009067 True cystinuria type A cystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019746 MONDO:0009067 True cystinuria type B cystinuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019753 MONDO:0015564 True localized Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019754 MONDO:0015157 True multicentric Castleman disease human herpesvirus 8-related tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019754 MONDO:0015564 True multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019756 MONDO:0016296 True lobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019757 MONDO:0016296 True alobar holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019759 MONDO:0017919 True epispadias exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019761 MONDO:0016060 True laryngotracheoesophageal cleft type 1 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019762 MONDO:0016060 True laryngotracheoesophageal cleft type 2 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019763 MONDO:0016060 True laryngotracheoesophageal cleft type 3 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019764 MONDO:0016060 True laryngotracheoesophageal cleft type 4 laryngotracheoesophageal cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019766 MONDO:0010653 True X-linked intellectual disability, Porteous type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019767 MONDO:0010653 True hamel cerebro-palato-cardiac syndrome Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019768 MONDO:0010653 True X-linked intellectual disability, Golabi-Ito-hall type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019769 MONDO:0010653 True X-linked intellectual disability, Sutherland-Haan type Renpenning syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019771 MONDO:0000477 True oromandibular dystonia focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019771 MONDO:0015990 True oromandibular dystonia focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019772 MONDO:0015990 True blepharospasm-oromandibular dystonia syndrome focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019773 MONDO:0017069 True myelomeningocele spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019780 MONDO:0019755 True anotia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019781 MONDO:0021636 True astrocytoma (excluding glioblastoma) astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019783 MONDO:0005041 True neovascular glaucoma glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019784 MONDO:0016877 True 12q14 microdeletion syndrome partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019786 MONDO:0015159 True severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019789 MONDO:0019296 True cytophagic histiocytic panniculitis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019790 MONDO:0005071 True neuroleptic malignant syndrome nervous system disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019791 MONDO:0016798 True recessive mitochondrial ataxia syndrome ataxia neuropathy spectrum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019791 MONDO:0020044 True recessive mitochondrial ataxia syndrome autosomal recessive metabolic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019792 MONDO:0020380 True autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019793 MONDO:0020380 True autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019794 MONDO:0020380 True autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0015483 True acrodysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0018234 True acrodysostosis dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019797 MONDO:0019695 True acrodysostosis acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019801 MONDO:0015128 True acute adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019802 MONDO:0015183 True secondary short bowel syndrome short bowel syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019803 MONDO:0002300 True angioma serpiginosum dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019803 MONDO:0003110 True angioma serpiginosum skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019803 MONDO:0016231 True angioma serpiginosum capillary malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019803 MONDO:0019293 True angioma serpiginosum skin vascular disease UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019804 MONDO:0002567 True tracheomalacia tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019805 MONDO:0001240 True twin to twin transfusion syndrome neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019807 MONDO:0019512 True mesocardia congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019808 MONDO:0017735 True aortic valve atresia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019810 MONDO:0017396 True toxic epidermal necrolysis toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019811 MONDO:0020289 True tricuspid valve agenesis congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019813 MONDO:0020289 True congenital tricuspid stenosis congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019814 MONDO:0020289 True straddling or overriding tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019815 MONDO:0020289 True accessory tricuspid valve tissue congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019817 MONDO:0016582 True congenital mitral valve insufficiency and/or stenosis congenital mitral malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019818 MONDO:0016582 True cleft mitral valve congenital mitral malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019819 MONDO:0019818 True double-orifice mitral valve cleft mitral valve UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019820 MONDO:0019512 True univentricular cardiopathy congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019823 MONDO:0020292 True premature closure of the arterial duct congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019824 MONDO:0015127 True non-acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019824 MONDO:0015514 True non-acquired pituitary hormone deficiency hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019825 MONDO:0015203 True congenital coronary artery aneurysm coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019828 MONDO:0019824 True pituitary stalk interruption syndrome non-acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019832 MONDO:0015127 True acquired pituitary hormone deficiency pituitary deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019835 MONDO:0019832 True primary hypophysitis acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019838 MONDO:0019835 True adenohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019839 MONDO:0019835 True panhypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019845 MONDO:0019832 True iatrogenic or traumatic pituitary deficiency acquired pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019846 MONDO:0015790 True acquired central diabetes insipidus central diabetes insipidus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019857 MONDO:0016555 True congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies transient congenital hypothyroidism due to maternal factor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019858 MONDO:0018612 True idiopathic congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019862 MONDO:0018677 True levocardia visceral heterotaxy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019870 MONDO:0017012 True distal trisomy 1p36 partial duplication of the short arm of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019871 MONDO:0016939 True distal trisomy 2p partial duplication of the short arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019872 MONDO:0016940 True distal trisomy 3p partial duplication of the short arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019873 MONDO:0016941 True 4p16.3 microduplication syndrome partial duplication of the short arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019873 MONDO:0019716 True 4p16.3 microduplication syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019874 MONDO:0016944 True distal trisomy 7p partial duplication of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019875 MONDO:0007534 True Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019875 MONDO:0016948 True Beckwith-Wiedemann syndrome due to 11p15 microduplication partial duplication of the short arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019877 MONDO:0016953 True distal trisomy 2q partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019878 MONDO:0016954 True 3q26 microduplication syndrome partial duplication of the long arm of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019879 MONDO:0016955 True distal trisomy 4q partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019880 MONDO:0016956 True distal trisomy 5q partial trisomy of the long arm of chromosome 5 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019881 MONDO:0016957 True distal trisomy 6q partial duplication of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019882 MONDO:0016959 True distal trisomy 8q partial duplication of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019883 MONDO:0016960 True distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019884 MONDO:0016961 True distal trisomy 10q partial duplication of the long arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019885 MONDO:0022173 True distal trisomy 11q chromosome 11q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019886 MONDO:0022177 True distal trisomy 13q chromosome 13q trisomy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019887 MONDO:0016966 True distal trisomy 16q partial trisomy of the long arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019888 MONDO:0016970 True distal trisomy 20q partial trisomy of the long arm of chromosome 20 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019889 MONDO:0016972 True distal trisomy 22q partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019890 MONDO:0016960 True non-distal trisomy 9q partial trisomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019892 MONDO:0016889 True distal monosomy 7p partial deletion of the short arm of chromosome 7 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019893 MONDO:0016897 True distal monosomy 19p13.3 partial deletion of the short arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019895 MONDO:0016903 True distal monosomy 4q partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019896 MONDO:0016908 True Kleefstra syndrome due to 9q34 microdeletion partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019897 MONDO:0016877 True distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019898 MONDO:0016912 True distal monosomy 14q partial deletion of the long arm of chromosome 14 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019900 MONDO:0016877 True non-distal monosomy 12q partial deletion of the long arm of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019902 MONDO:0016911 True monosomy 13q34 partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019913 MONDO:0008394 True silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019915 MONDO:0014541 True maternal uniparental disomy of chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019923 MONDO:0007534 True Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019926 MONDO:0019852 True X small rings inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019928 MONDO:0017975 True 48,XXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019929 MONDO:0017975 True 49,XXXXY syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019933 MONDO:0006793 True acromegaly hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019934 MONDO:0019040 True polyploidy chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019941 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019942 MONDO:0003939 True distal arthrogryposis muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019942 MONDO:0015225 True distal arthrogryposis arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019944 MONDO:0015924 True Eisenmenger syndrome pulmonary arterial hypertension UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019948 MONDO:0019952 True reducing body myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019950 MONDO:0020121 True congenital muscular dystrophy muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019951 MONDO:0016187 True rigid spine syndrome qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019951 MONDO:0016197 True rigid spine syndrome qualitative or quantitative defects of selenoprotein N1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019951 MONDO:0019950 True rigid spine syndrome congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019952 MONDO:0005336 True congenital myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019954 MONDO:0000386 True pancreatic neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019954 MONDO:0005815 True pancreatic neuroendocrine tumor pancreatic neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019955 MONDO:0019954 True GRFoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019956 MONDO:0005560 True encephalitis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019957 MONDO:0019954 True PPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019959 MONDO:0019954 True glucagonoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019960 MONDO:0019954 True VIPoma pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019962 MONDO:0002108 True thyroid lymphoma thyroid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019962 MONDO:0017207 True thyroid lymphoma primary organ-specific lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019963 MONDO:0019496 True bronchial endocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019964 MONDO:0005197 True thymic neuroendocrine tumor thymus neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019964 MONDO:0019496 True thymic neuroendocrine tumor neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019967 MONDO:0018381 True Kienbock disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019969 MONDO:0018381 True panner disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019970 MONDO:0018381 True Sinding-Larsen-Johansson disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019975 MONDO:0006873 True pellagra nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019978 MONDO:0002254 True Robinow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019978 MONDO:0018230 True Robinow syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019979 MONDO:0019637 True renal hypoplasia, unilateral renal hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019980 MONDO:0019637 True renal hypoplasia, bilateral renal hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019981 MONDO:0015988 True unilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019982 MONDO:0015988 True bilateral multicystic dysplastic kidney multicystic dysplastic kidney UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019984 MONDO:0017609 True renal tubular dysgenesis due to twin-twin transfusion renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019985 MONDO:0017609 True drug-related renal tubular dysgenesis renal tubular dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019988 MONDO:0019641 True pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019989 MONDO:0019641 True pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019990 MONDO:0019605 True non-amyloid fibrillary glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019991 MONDO:0019605 True immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0004689 True pseudohypoparathyroidism inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019992 MONDO:0015327 True pseudohypoparathyroidism developmental anomaly of metabolic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0015962 True pseudohypoparathyroidism inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019992 MONDO:0016165 True pseudohypoparathyroidism hereditary hypoparathyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020007 MONDO:0020292 True absence of the pulmonary artery congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020022 MONDO:0019755 True central nervous system malformation developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020040 MONDO:0002145 True 46,XY disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020043 MONDO:0015244 True autosomal recessive congenital cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020044 MONDO:0015244 True autosomal recessive metabolic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020046 MONDO:0015244 True autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020047 MONDO:0015244 True autosomal recessive syndromic cerebellar ataxia autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020049 MONDO:0019040 True autosomal anomaly chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020058 MONDO:0019040 True gonosome anomaly chromosomal disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020064 MONDO:0016581 True pulmonary valve agenesis conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020065 MONDO:0044807 True combined dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020066 MONDO:0019755 True Ehlers-Danlos syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020070 MONDO:0015650 True neonatal epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020071 MONDO:0015650 True infantile epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020072 MONDO:0015650 True childhood-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020073 MONDO:0015650 True adolescent-onset epilepsy syndrome epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0020072 True progressive myoclonus epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0020073 True progressive myoclonus epilepsy adolescent-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0100036 True progressive myoclonus epilepsy variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020076 MONDO:0005170 True myeloproliferative neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020076 MONDO:0015756 True myeloproliferative neoplasm myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020076 MONDO:0021138 True myeloproliferative neoplasm bone marrow cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020077 MONDO:0015756 True myelodysplastic/myeloproliferative disease myeloid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020082 MONDO:0006247 True dendritic cell tumor histiocytic and dendritic cell neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020083 MONDO:0015757 True immunodeficiency-associated lymphoproliferative disease lymphoid hemopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0020087 True familial partial lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0027767 True familial partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020099 MONDO:0015194 True inherited sideroblastic anemia sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020108 MONDO:0000602 True autoimmune hemolytic anemia autoimmune disorder of blood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020108 MONDO:0003664 True autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020112 MONDO:0016624 True vitamin B12- and folate-independent constitutional megaloblastic anemia inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020113 MONDO:0015610 True primary acquired red cell aplasia acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020115 MONDO:0005571 True secondary polycythemia polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020119 MONDO:0000508 True X-linked syndromic intellectual disability syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020121 MONDO:0005336 True muscular dystrophy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020121 MONDO:0019056 True muscular dystrophy neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020122 MONDO:0016105 True acquired idiopathic inflammatory myopathy acquired skeletal muscle disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020124 MONDO:0019056 True neuromuscular junction disease neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020128 MONDO:0005559 True motor neuron disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020128 MONDO:0019056 True motor neuron disorder neuromuscular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020129 MONDO:0020128 True acquired motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020135 MONDO:0020022 True pontocerebellar hypoplasia central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020143 MONDO:0005560 True cerebral lipidosis with dementia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020143 MONDO:0015547 True cerebral lipidosis with dementia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020179 MONDO:0005073 True palpebral nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020204 MONDO:0006170 True conjunctival tumor conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020204 MONDO:0021220 True conjunctival tumor eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020212 MONDO:0018102 True superficial corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020213 MONDO:0018102 True stromal corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020214 MONDO:0018102 True posterior corneal dystrophy corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020250 MONDO:0020249 True autosomal dominant optic atrophy hereditary optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020283 MONDO:0002661 True uveitis uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020290 MONDO:0002078 True familial atrioventricular septal defect heart septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020291 MONDO:0019820 True hypoplastic right heart syndrome univentricular cardiopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020292 MONDO:0019512 True congenital anomaly of the great arteries congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020297 MONDO:0021060 True Noonan syndrome and Noonan-related syndrome RASopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020298 MONDO:0008300 True Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020300 MONDO:0002612 True autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020300 MONDO:0017704 True autosomal dominant nocturnal frontal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020301 MONDO:0008300 True Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020301 MONDO:0016913 True Prader-Willi syndrome due to paternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020302 MONDO:0007113 True Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020302 MONDO:0016913 True Angelman syndrome due to maternal 15q11q13 deletion partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020303 MONDO:0007113 True Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020304 MONDO:0019935 True isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020305 MONDO:0019935 True isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020307 MONDO:0007558 True benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020308 MONDO:0007558 True benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020310 MONDO:0017704 True familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020311 MONDO:0001014 True chronic myelomonocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020311 MONDO:0006311 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020311 MONDO:0020077 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020316 MONDO:0018874 True acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020317 MONDO:0018874 True acute myeloid leukemia with 11q23 abnormalities acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acute myeloid leukemia by FAB classification UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020322 MONDO:0020743 True acute biphenotypic leukemia mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020323 MONDO:0000951 True primary mediastinal large B-cell lymphoma thymus lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020325 MONDO:0000430 True anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020326 MONDO:0018897 True lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020327 MONDO:0009348 True classic Hodgkin lymphoma, nodular sclerosis type classic Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020331 MONDO:0016586 True indolent systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020332 MONDO:0016586 True systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020333 MONDO:0016586 True aggressive systemic mastocytosis systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020334 MONDO:0005059 True mast cell leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020334 MONDO:0016586 True mast cell leukemia systemic mastocytosis UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020336 MONDO:0016830 True autosomal dominant Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020336 MONDO:0021106 True autosomal dominant Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020337 MONDO:0019403 True congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020338 MONDO:0020113 True adult pure red cell aplasia primary acquired red cell aplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020340 MONDO:0017091 True bilateral perisylvian polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020341 MONDO:0002320 True periventricular nodular heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020341 MONDO:0016292 True periventricular nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020344 MONDO:0018940 True postsynaptic congenital myasthenic syndrome congenital myasthenic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020347 MONDO:0016218 True acute inflammatory demyelinating polyradiculoneuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020348 MONDO:0016218 True acute motor and sensory axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020349 MONDO:0016218 True acute motor axonal neuropathy Guillain-Barre syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020352 MONDO:0007803 True multiple system atrophy, parkinsonian type multiple system atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020359 MONDO:0007410 True congenital symblepharon isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020360 MONDO:0007410 True complete cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020361 MONDO:0007410 True partial cryptophthalmia isolated cryptophthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020362 MONDO:0007946 True inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020363 MONDO:0020212 True honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020364 MONDO:0020214 True posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020365 MONDO:0020214 True congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020367 MONDO:0005338 True juvenile open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020367 MONDO:0018174 True juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020369 MONDO:0018102 True Chandler syndrome corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020369 MONDO:0018988 True Chandler syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020370 MONDO:0018988 True Cogan-Reese syndrome iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020371 MONDO:0018988 True essential iris atrophy iridocorneal endothelial syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020372 MONDO:0020379 True early-onset sutural cataract early-onset zonular cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020373 MONDO:0020377 True early-onset anterior polar cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020374 MONDO:0020377 True cerulean cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020376 MONDO:0020379 True early-onset nuclear cataract early-onset zonular cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020377 MONDO:0011060 True early-onset partial cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020379 MONDO:0020377 True early-onset zonular cataract early-onset partial cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020380 MONDO:0000426 True autosomal dominant cerebellar ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020380 MONDO:0015547 True autosomal dominant cerebellar ataxia hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020380 MONDO:0024237 True autosomal dominant cerebellar ataxia inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020381 MONDO:0003004 True patterned macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020382 MONDO:0018973 True multifocal pattern dystrophy simulating fundus flavimaculatus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020383 MONDO:0018973 True fundus pulverulentus patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020385 MONDO:0019443 True congenitally uncorrected transposition of the great arteries with coarctation dextro-looped transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020386 MONDO:0018089 True double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020387 MONDO:0018089 True double outlet right ventricle with subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020388 MONDO:0018089 True double outlet right ventricle with non-committed subpulmonary ventricular septal defect double outlet right ventricle UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020389 MONDO:0020064 True pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020390 MONDO:0015239 True pulmonary artery coming from patent ductus arteriosus abnormal origin of the pulmonary artery UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020391 MONDO:0015239 True pulmonary artery coming from the aorta abnormal origin of the pulmonary artery UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020393 MONDO:0017727 True discrete fibromuscular subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020394 MONDO:0017727 True tunnel subaortic stenosis fixed subaortic stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020395 MONDO:0017865 True valvar pulmonary stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020396 MONDO:0020289 True anomaly of the tricuspid valve chordae congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020397 MONDO:0020289 True parachute tricuspid valve congenital tricuspid malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020398 MONDO:0019817 True congenital mitral stenosis congenital mitral valve insufficiency and/or stenosis SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020399 MONDO:0019817 True congenital hypoplasia of the mitral valve annulus congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020400 MONDO:0019817 True congenital supravalvular mitral ring congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020401 MONDO:0019817 True congenital unguarded mitral orifice congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020402 MONDO:0019817 True congenital accessory mitral valve tissue congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020403 MONDO:0019817 True congenital mitral valve agenesis congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020404 MONDO:0019817 True shone complex congenital mitral valve insufficiency and/or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020405 MONDO:0019818 True straddling and/or overriding mitral valve cleft mitral valve UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020407 MONDO:0015273 True complete atrioventricular canal-ventricle hypoplasia syndrome complete atrioventricular canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020408 MONDO:0015273 True complete atrioventricular canal-tetralogy of fallot syndrome complete atrioventricular canal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020410 MONDO:0018082 True aorto-right ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020411 MONDO:0018082 True aorto-left ventricular tunnel aorto-ventricular tunnel UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020412 MONDO:0020292 True congenital patent ductus arteriosus aneurysm congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020413 MONDO:0015236 True encircling double aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020414 MONDO:0015236 True persistent fifth aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020415 MONDO:0015236 True Kommerell diverticulum aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020416 MONDO:0015236 True Neuhauser anomaly aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020417 MONDO:0015236 True right aortic arch aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020418 MONDO:0015236 True dysphagia lusoria aortic arch defects UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020419 MONDO:0020292 True pulmonary artery hypoplasia congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020420 MONDO:0020292 True pulmonary branch stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020423 MONDO:0015203 True stenosis or atrophy of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020425 MONDO:0015203 True abnormal number of coronary ostia coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020426 MONDO:0015203 True malposition of the coronary ostium coronary artery congenital malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020427 MONDO:0019512 True Laubry-Pezzi syndrome congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020428 MONDO:0019512 True congenital Gerbode defect congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020429 MONDO:0015450 True cor triatriatum dexter triatrial heart UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020430 MONDO:0015450 True cor triatriatum sinister triatrial heart UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020431 MONDO:0019512 True juxtaposition of the atrial appendages congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020432 MONDO:0019512 True ectasia of the right atrial appendage congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020433 MONDO:0019512 True ectasia of the left appendage congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020434 MONDO:0006664 True atrial septal defect, ostium secundum type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020435 MONDO:0006664 True atrial septal defect, coronary sinus type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020436 MONDO:0006664 True atrial septal defect, sinus venosus type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020437 MONDO:0006664 True atrial septal defect, ostium primum type atrial septal defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020438 MONDO:0019512 True atrial septal aneurysm congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020439 MONDO:0006664 True patent foramen ovale atrial septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020440 MONDO:0019829 True persistent left superior vena cava connecting to the left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020441 MONDO:0019829 True right superior vena cava connecting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020442 MONDO:0019829 True left superior vena cava persisting to left-sided atrium congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020443 MONDO:0019829 True absence of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020444 MONDO:0019829 True subaortic course of innominate vein congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020445 MONDO:0019829 True agenesis of the superior vena cava congenital anomaly of superior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020448 MONDO:0019830 True right inferior vena cava connecting to left-sided atrium congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020449 MONDO:0019830 True persistent eustachian valve congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020450 MONDO:0019830 True azygos continuation of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020451 MONDO:0019830 True congenital stenosis of the inferior vena cava congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020452 MONDO:0019830 True inferior vena cava interruption congenital anomaly of the inferior vena cava UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020453 MONDO:0017705 True congenital partial pulmonary venous return anomaly congenital pulmonary venous return anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020454 MONDO:0017300 True congenital complete agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020455 MONDO:0017300 True congenital partial agenesis of pericardium congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020456 MONDO:0017300 True pleuro-pericardial cyst congenital pericardium anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020458 MONDO:0019236 True hemolytic anemia due to erythrocyte adenosine deaminase overproduction inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020459 MONDO:0019050 True unstable hemoglobin disease inherited hemoglobinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020463 MONDO:0020161 True isolated congenital ectropion congenital ectropion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020466 MONDO:0019499 True monosomy X Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020470 MONDO:0015161 True 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020472 MONDO:0019499 True Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020474 MONDO:0018230 True cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020475 MONDO:0019287 True dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020476 MONDO:0017704 True mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020478 MONDO:0016387 True Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020480 MONDO:0004689 True sulfite oxidase deficiency due to molybdenum cofactor deficiency inborn metal metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020480 MONDO:0019358 True sulfite oxidase deficiency due to molybdenum cofactor deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020481 MONDO:0018959 True myotonia fluctuans potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020482 MONDO:0018959 True myotonia permanens potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020483 MONDO:0018959 True acetazolamide-responsive myotonia potassium-aggravated myotonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020487 MONDO:0005823 True Pontiac fever legionellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020488 MONDO:0019037 True atypical progressive supranuclear palsy syndrome progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020491 MONDO:0002320 True subcortical band heterotopia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020494 MONDO:0016910 True oculootodental syndrome partial deletion of the long arm of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020496 MONDO:0017410 True familial porencephaly porencephaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020497 MONDO:0021055 True Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020500 MONDO:0018087 True Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020502 MONDO:0018093 True yellow fever arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020504 MONDO:0019052 True hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020505 MONDO:0019046 True ravine syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020507 MONDO:0800448 True leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020508 MONDO:0017987 True primary syringomyelia syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020509 MONDO:0017987 True secondary syringomyelia syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020510 MONDO:0020508 True idiopathic syringomyelia primary syringomyelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020511 MONDO:0004967 True precursor B-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020512 MONDO:0004967 True precursor T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020513 MONDO:0003669 True spermatocytic seminoma testicular seminoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020516 MONDO:0006451 True thymic neuroendocrine carcinoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020517 MONDO:0018310 True eosinophilic granuloma Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020519 MONDO:0018310 True hand-Schuller-Christian disease Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020525 MONDO:0016391 True transient neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020526 MONDO:0018872 True acute megakaryoblastic leukemia in down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020527 MONDO:0020528 True ectopic Cushing syndrome ACTH-dependent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020528 MONDO:0006793 True ACTH-dependent Cushing syndrome hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020528 MONDO:0018912 True ACTH-dependent Cushing syndrome Cushing syndrome SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020530 MONDO:0019146 True Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020532 MONDO:0000314 True spirillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020532 MONDO:0006941 True spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020533 MONDO:0000314 True streptobacillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020533 MONDO:0006941 True streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020535 MONDO:0017853 True house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020538 MONDO:0018171 True malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020539 MONDO:0018201 True extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020540 MONDO:0021657 True ovarian gynandroblastoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020541 MONDO:0018172 True maligant granulosa cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020541 MONDO:0023283 True maligant granulosa cell tumor of ovary ovarian granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020542 MONDO:0018172 True malignant Sertoli-Leydig cell tumor of ovary malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020543 MONDO:0018172 True theca steroid-producing cell malignant tumor of ovary, not further specified malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020544 MONDO:0001881 True streptococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020545 MONDO:0001881 True staphylococcal toxic-shock syndrome toxic shock syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020545 MONDO:0017592 True staphylococcal toxic-shock syndrome staphylococcal toxemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020546 MONDO:0013730 True acute graft versus host disease graft versus host disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020547 MONDO:0013730 True chronic graft versus host disease graft versus host disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020549 MONDO:0006248 True invasive hydatidiform mole hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020549 MONDO:0018944 True invasive hydatidiform mole gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020550 MONDO:0001416 True gestational choriocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020550 MONDO:0005207 True gestational choriocarcinoma choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020552 MONDO:0005207 True placental site trophoblastic tumor choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020553 MONDO:0015925 True secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020554 MONDO:0020553 True Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020558 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020560 MONDO:0002728 True atypical teratoid rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020561 MONDO:0005060 True myxoid/round cell liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020562 MONDO:0005060 True pleomorphic liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020563 MONDO:0005060 True dedifferentiated liposarcoma liposarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020568 MONDO:0019147 True cutaneous myiasis myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020571 MONDO:0019362 True relapsing epidemic typhus epidemic louse-borne typhus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020572 MONDO:0019369 True complex regional pain syndrome type 2 complex regional pain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020574 MONDO:0003000 True central nervous system nongerminomatous germ cell tumor central nervous system germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020577 MONDO:0003751 True childhood gonadal germ cell tumor childhood germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020580 MONDO:0005040 True germinomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020581 MONDO:0006359 True benign PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020581 MONDO:0044335 True benign PEComa benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020582 MONDO:0021629 True benign uterine ligament neoplasm uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020588 MONDO:0006359 True lung PEComa neoplasm with perivascular epithelioid cell differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020588 MONDO:0021117 True lung PEComa lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020589 MONDO:0018201 True cardiac germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020589 MONDO:0021209 True cardiac germ cell tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020593 MONDO:0024666 True trichoblastoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020596 MONDO:0004993 True mucin-producing carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020602 MONDO:0003847 True Simpson-Golabi-Behmel syndrome type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020604 MONDO:0000425 True X-linked dominant disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020605 MONDO:0000425 True X-linked recessive disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020607 MONDO:0008323 True Liddle syndrome 1 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020628 MONDO:0020629 True microcephaly, growth restriction, and increased sister chromatid exchange 2 microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020633 MONDO:0004992 True anaplastic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020634 MONDO:0016642 True grade III meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020635 MONDO:0020633 True anaplastic meningioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020635 MONDO:0020634 True anaplastic meningioma grade III meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020635 MONDO:0021322 True anaplastic meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020638 MONDO:0005012 True superficial spreading melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020640 MONDO:0019956 True autoimmune encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020641 MONDO:0005070 True respiratory tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020641 MONDO:0005087 True respiratory tract neoplasm respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020644 MONDO:0003987 True lung non-Hodgkin lymphoma lung lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020644 MONDO:0018908 True lung non-Hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020646 MONDO:0018908 True ocular adnexal lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020649 MONDO:0020656 True warty carcinoma of the penis human papillomavirus-related penile squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020653 MONDO:0001704 True vaginal adenocarcinoma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020653 MONDO:0004970 True vaginal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020653 MONDO:0015867 True vaginal adenocarcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020654 MONDO:0040679 True renal pelvis/ureter urothelial carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020656 MONDO:0018352 True human papillomavirus-related penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020656 MONDO:0020657 True human papillomavirus-related penile squamous cell carcinoma human papillomavirus-related squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020657 MONDO:0005096 True human papillomavirus-related squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020658 MONDO:0004030 True infiltrating ureter transitional cell carcinoma ureter transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020660 MONDO:0002631 True osteoblastic osteosarcoma conventional osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020661 MONDO:0018078 True undifferentiated round cell sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020662 MONDO:0016093 True borderline ovarian serous tumor borderline epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020662 MONDO:0037255 True borderline ovarian serous tumor ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020663 MONDO:0020664 True malignant spindle cell neoplasm spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020664 MONDO:0005070 True spindle cell neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020665 MONDO:0004992 True high grade malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020667 MONDO:0008803 True Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020669 MONDO:0005289 True paranasal sinus cancer paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020690 MONDO:0004320 True adult glioblastoma adult infiltrating astrocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020690 MONDO:0018177 True adult glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020693 MONDO:0002412 True glycogen storage disease due to liver phosphorylase kinase deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020694 MONDO:0000521 True salivary gland epithelial myoepithelial carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020694 MONDO:0003389 True salivary gland epithelial myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020697 MONDO:0003389 True lung epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020697 MONDO:0005138 True lung epithelial-myoepithelial carcinoma lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020712 MONDO:0010765 True 46,XY sex reversal 1 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020713 MONDO:0009937 True pulmonary venoocclusive disease 1 pulmonary venoocclusive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020716 MONDO:0010132 True familial thyroid dyshormonogenesis 1 familial thyroid dyshormonogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020717 MONDO:0003847 True autosomal dominant wooly hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020717 MONDO:0008686 True autosomal dominant wooly hair isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020721 MONDO:0000425 True X-linked sideroblastic anemia 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020721 MONDO:0017754 True X-linked sideroblastic anemia 1 inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020721 MONDO:0020099 True X-linked sideroblastic anemia 1 inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020722 MONDO:0957318 True nephrolithiasis susceptibility caused by SLC26A1 nephrolithiasis, calcium oxalate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020724 MONDO:0031037 True cerebral cavernous malformation 1 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020726 MONDO:0000608 True tubulointerstitial kidney disease, autosomal dominant, 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020726 MONDO:0008264 True tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020730 MONDO:0007275 True carpal tunnel syndrome 1 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020735 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020737 MONDO:0043878 True optic atrophy 10 with or without ataxia, intellectual disability, and seizures hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020738 MONDO:0007990 True multiple benign circumferential skin creases on limbs 1 multiple benign circumferential skin creases on limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020739 MONDO:0000212 True hypercalcemia, infantile, 1 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020740 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 1 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020746 MONDO:0020937 True contractures, pterygia, and variable skeletal fusions syndrome 1B contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020747 MONDO:0008863 True sitosterolemia 1 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020748 MONDO:0008863 True sitosterolemia 2 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020749 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020750 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020751 MONDO:0021272 True orthostatic hypotension 2 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020756 MONDO:0000700 True migraine, familial hemiplegic, 1 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020760 MONDO:0002529 True skin squamous cell carcinoma in situ skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020760 MONDO:0004641 True skin squamous cell carcinoma in situ skin carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020760 MONDO:0004693 True skin squamous cell carcinoma in situ squamous carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020761 MONDO:0020760 True Bowen disease of the skin skin squamous cell carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020762 MONDO:0017868 True diencephalic-mesencephalic junction dysplasia syndrome 2 diencephalic-mesencephalic junction dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020763 MONDO:0020774 True Menke-Hennekam syndrome 1 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020765 MONDO:0033352 True neuropathy, congenital hypomyelinating, 2 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020766 MONDO:0033352 True neuropathy, congenital hypomyelinating, 3 neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020769 MONDO:0020774 True Menke-Hennekam syndrome 2 Menke-Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020770 MONDO:0020771 True spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020775 MONDO:0060720 True congenital disorder of glycosylation with defective fucosylation 1 congenital disorder of glycosylation with defective fucosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020777 MONDO:0060720 True congenital disorder of glycosylation with defective fucosylation 2 congenital disorder of glycosylation with defective fucosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020778 MONDO:0014980 True cone-rod dystrophy and hearing loss 1 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020780 MONDO:0014980 True cone-rod dystrophy and hearing loss 2 cone-rod dystrophy and hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020781 MONDO:0014960 True encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020783 MONDO:0012016 True capillary malformation-arteriovenous malformation 1 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020785 MONDO:0012016 True capillary malformation-arteriovenous malformation 2 capillary malformation-arteriovenous malformation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020787 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 1 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020788 MONDO:0014631 True hypomagnesemia, seizures, and intellectual disability 2 hypomagnesemia, seizures, and intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020789 MONDO:0009626 True pseudo-TORCH syndrome 1 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020790 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis 1 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020791 MONDO:0007379 True corneal dystrophy, Meesmann, 1 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020793 MONDO:0025193 True oculopharyngodistal myopathy 1 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020794 MONDO:0005008 True colorectal medullary carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020795 MONDO:0008394 True Silver-Russell syndrome 5 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020796 MONDO:0008394 True Silver-Russell syndrome 1 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020798 MONDO:0016390 True hypoparathyroidism, familial isolated, 2 familial hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020799 MONDO:0005626 True basal cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020801 MONDO:0002169 True rectal medullary carcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020801 MONDO:0020794 True rectal medullary carcinoma colorectal medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020804 MONDO:0004993 True basal cell carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020804 MONDO:0020799 True basal cell carcinoma basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020807 MONDO:0021657 True ovarian sertoli-stromal cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020808 MONDO:0002696 True testicular sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020808 MONDO:0003125 True testicular sertoli cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020809 MONDO:0002696 True benign sertoli cell tumor Sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020813 MONDO:0020808 True benign testicular sertoli cell tumor testicular sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020813 MONDO:0020809 True benign testicular sertoli cell tumor benign sertoli cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020813 MONDO:0021447 True benign testicular sertoli cell tumor benign neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020820 MONDO:0000426 True distal arthrogryposis type 2B1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020820 MONDO:0011128 True distal arthrogryposis type 2B1 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020831 MONDO:0015161 True congenital vertebral-cardiac-renal anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020837 MONDO:0014769 True oocyte maturation defect 5 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020845 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020846 MONDO:0019502 True intellectual disability, autosomal recessive 64 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020848 MONDO:0020645 True osteopetrosis, autosomal dominant 3 autosomal dominant osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020849 MONDO:0021094 True immunodeficiency 57 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020850 MONDO:0019502 True intellectual disability, autosomal recessive 65 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020851 MONDO:0004983 True spermatogenic failure 30 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020852 MONDO:0004983 True spermatogenic failure 31 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020854 MONDO:0008323 True Liddle syndrome 2 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020855 MONDO:0004983 True spermatogenic failure 32 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020856 MONDO:0000159 True bone marrow failure syndrome 4 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020857 MONDO:0009299 True ovarian dysgenesis 7 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021001 MONDO:0006507 True hemochromatosis type 1 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021005 MONDO:0002254 True faciodigitogenital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021009 MONDO:0000521 True salivary gland mucoepidermoid carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021010 MONDO:0006282 True skin lymphangiosarcoma lymphangiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021010 MONDO:0006414 True skin lymphangiosarcoma skin sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021013 MONDO:0018053 True trichothiodystrophy 4, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021018 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021019 MONDO:0017304 True X-linked recessive ocular albinism ocular albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021020 MONDO:0009044 True Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021022 MONDO:0017658 True hereditary hyperekplexia hyperekplexia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021022 MONDO:0019253 True hereditary hyperekplexia metabolic disease involving other neurotransmitter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021023 MONDO:0019154 True complete androgen insensitivity syndrome androgen insensitivity syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021029 MONDO:0021026 True hereditary sebaceous gland anomaly hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021035 MONDO:0008756 True alopecia-intellectual disability syndrome 1 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021038 MONDO:0005564 True Ewing sarcoma/peripheral primitive neuroectodermal tumor embryonal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021039 MONDO:0021038 True extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021040 MONDO:0002356 True pancreatic neoplasm pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021040 MONDO:0021223 True pancreatic neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021041 MONDO:0016238 True pleural solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021041 MONDO:0021065 True pleural solitary fibrous tumor pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021042 MONDO:0021193 True glioma neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021043 MONDO:0005070 True mixed neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021045 MONDO:0021043 True fibroepithelial neoplasm mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021046 MONDO:0021045 True breast fibroepithelial neoplasm fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021046 MONDO:0021100 True breast fibroepithelial neoplasm breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021047 MONDO:0005078 True breast phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021047 MONDO:0021046 True breast phyllodes tumor breast fibroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021048 MONDO:0003079 True benign mastocytoma mastocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021048 MONDO:0005165 True benign mastocytoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021049 MONDO:0002187 True vulvar neoplasm vulvar disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021049 MONDO:0021148 True vulvar neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021050 MONDO:0001433 True vaginal neoplasm vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021050 MONDO:0021148 True vaginal neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021052 MONDO:0000448 True parasympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021053 MONDO:0006239 True carotid body paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021053 MONDO:0021052 True carotid body paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021054 MONDO:0002129 True bone sarcoma bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021054 MONDO:0005089 True bone sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021056 MONDO:0021055 True familial adenomatous polyposis 1 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021061 MONDO:0000426 True neurofibromatosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021063 MONDO:0005401 True malignant colon neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021063 MONDO:0005575 True malignant colon neoplasm colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021064 MONDO:0006239 True jugulotympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021064 MONDO:0021052 True jugulotympanic paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021065 MONDO:0002037 True pleural neoplasm pleural disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021066 MONDO:0002118 True urinary system neoplasm urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021066 MONDO:0005070 True urinary system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021067 MONDO:0018201 True mediastinal germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021067 MONDO:0021386 True mediastinal germ cell tumor neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021068 MONDO:0005558 True ovarian neoplasm ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021068 MONDO:0021148 True ovarian neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021069 MONDO:0002082 True malignant endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021069 MONDO:0004992 True malignant endocrine neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021070 MONDO:0004667 True sublingual gland carcinoma sublingual gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021070 MONDO:0006284 True sublingual gland carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021071 MONDO:0004382 True laryngeal neoplasm laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021072 MONDO:0000448 True sympathetic paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021072 MONDO:0005626 True sympathetic paraganglioma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021075 MONDO:0005079 True neoplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021076 MONDO:0021040 True pancreatic exocrine neoplasm pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021077 MONDO:0005070 True cystic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021078 MONDO:0002363 True glandular papilloma papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021078 MONDO:0024276 True glandular papilloma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021079 MONDO:0005070 True childhood neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021080 MONDO:0005385 True blood vessel neoplasm vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021080 MONDO:0024296 True blood vessel neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021081 MONDO:0019956 True anti-NMDA receptor encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021083 MONDO:0007614 True congenital fibrosis of extraocular muscles type 1 congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021085 MONDO:0004298 True gastric neoplasm stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021085 MONDO:0021223 True gastric neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021086 MONDO:0002021 True gingival neoplasm gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021088 MONDO:0016642 True papillary meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021089 MONDO:0001406 True peripheral nervous system cancer peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021089 MONDO:0005872 True peripheral nervous system cancer nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021090 MONDO:0003570 True lipid-rich breast carcinoma lipid-rich carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021091 MONDO:0002369 True papillary cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021091 MONDO:0006349 True papillary cystadenoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021092 MONDO:0002156 True fallopian tube neoplasm fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021092 MONDO:0021148 True fallopian tube neoplasm female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021093 MONDO:0009032 True cranioectodermal dysplasia 1 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021096 MONDO:0005626 True papillary epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021097 MONDO:0000620 True intraductal breast papilloma breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021097 MONDO:0002060 True intraductal breast papilloma intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021097 MONDO:0002061 True intraductal breast papilloma intraductal papillary breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021098 MONDO:0021096 True papillomatosis papillary epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021099 MONDO:0021098 True intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021100 MONDO:0002657 True breast neoplasm breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021101 MONDO:0015066 True appendix L-cell glucagon-like peptide-producing neuroendocrine tumor neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021102 MONDO:0005078 True prostate phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021102 MONDO:0021259 True prostate phyllodes tumor prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021107 MONDO:0003406 True narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021109 MONDO:0003064 True inverted urothelial papilloma inverted transitional cell papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021109 MONDO:0004041 True inverted urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021110 MONDO:0002381 True sweat gland adenoma sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021110 MONDO:0004972 True sweat gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021110 MONDO:0021634 True sweat gland adenoma epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021111 MONDO:0001926 True ureter neoplasm ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021111 MONDO:0021066 True ureter neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021112 MONDO:0003319 True scrotum cancer scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021113 MONDO:0005275 True respiratory failure lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021114 MONDO:0021049 True Bartholin gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021117 MONDO:0005275 True lung neoplasm lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021117 MONDO:0020641 True lung neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021117 MONDO:0021350 True lung neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021118 MONDO:0005020 True intestinal neoplasm intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021118 MONDO:0021223 True intestinal neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021119 MONDO:0002082 True non-functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021120 MONDO:0002082 True functioning endocrine neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021121 MONDO:0021080 True hemangioendothelioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021123 MONDO:0019060 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021123 MONDO:0021038 True Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021129 MONDO:0005328 True microphthalmia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021138 MONDO:0005374 True bone marrow cancer bone marrow neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021143 MONDO:0005070 True melanocytic neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021144 MONDO:0002229 True ovarian clear cell tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021148 MONDO:0002263 True female reproductive system neoplasm female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021148 MONDO:0006054 True female reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021162 MONDO:0006504 True carotenemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021163 MONDO:0005240 True kidney neoplasm kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021163 MONDO:0021066 True kidney neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021165 MONDO:0004970 True Paget disease adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021167 MONDO:0005336 True myositis disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021168 MONDO:0005106 True hibernoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021169 MONDO:0006500 True epithelioid hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021172 MONDO:0010979 True Timothy syndrome, atypical type Timothy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021176 MONDO:0016264 True autoimmune hepatitis type 2 autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021187 MONDO:0005066 True hyperlipidemia metabolic disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021192 MONDO:0005586 True odontogenic neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021192 MONDO:0006999 True odontogenic neoplasm tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021193 MONDO:0021248 True neuroepithelial neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021209 MONDO:0005267 True heart neoplasm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021209 MONDO:0021350 True heart neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021209 MONDO:0024757 True heart neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021210 MONDO:0002567 True trachea neoplasm tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021210 MONDO:0020641 True trachea neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021211 MONDO:0005560 True brain neoplasm brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021211 MONDO:0006130 True brain neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021218 MONDO:0005917 True placenta neoplasm placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021220 MONDO:0005328 True eye neoplasm eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021221 MONDO:0001563 True vestibulocochlear nerve neoplasm vestibulocochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021221 MONDO:0002633 True vestibulocochlear nerve neoplasm cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021222 MONDO:0021220 True lacrimal gland neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021223 MONDO:0005070 True digestive system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021224 MONDO:0002289 True iris neoplasm iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021224 MONDO:0021225 True iris neoplasm uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021225 MONDO:0002661 True uvea neoplasm uveal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021225 MONDO:0021220 True uvea neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021227 MONDO:0005495 True adrenal gland neoplasm adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021228 MONDO:0021211 True brainstem neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021229 MONDO:0002970 True ciliary body neoplasm ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021230 MONDO:0002256 True uterine cervix neoplasm cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021230 MONDO:0021353 True uterine cervix neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021231 MONDO:0005283 True retina neoplasm retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021231 MONDO:0021220 True retina neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021232 MONDO:0021211 True pineal body neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021233 MONDO:0005586 True ear neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021233 MONDO:0021205 True ear neoplasm disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021234 MONDO:0002545 True spinal cord neoplasm spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021234 MONDO:0006130 True spinal cord neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021235 MONDO:0002776 True external ear neoplasm external ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021235 MONDO:0021233 True external ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021237 MONDO:0021227 True adrenal medulla neoplasm adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021238 MONDO:0000942 True cornea neoplasm corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021238 MONDO:0021220 True cornea neoplasm eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021239 MONDO:0004184 True urethra neoplasm urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021239 MONDO:0021066 True urethra neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021240 MONDO:0001165 True tongue neoplasm tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021240 MONDO:0005586 True tongue neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021241 MONDO:0005586 True buccal mucosa neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021242 MONDO:0021368 True sublingual gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021243 MONDO:0021368 True parotid gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021244 MONDO:0021368 True submandibular gland neoplasm neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021245 MONDO:0006858 True oral cavity neoplasm mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021248 MONDO:0005070 True nervous system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021248 MONDO:0005071 True nervous system neoplasm nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021249 MONDO:0004748 True lip neoplasm lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021249 MONDO:0005586 True lip neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021250 MONDO:0005586 True tonsil neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021251 MONDO:0000931 True endometrium neoplasm endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021251 MONDO:0021353 True endometrium neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021253 MONDO:0002514 True gallbladder neoplasm hepatobiliary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021253 MONDO:0005281 True gallbladder neoplasm gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021254 MONDO:0021353 True corpus uteri neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021258 MONDO:0001898 True choroid neoplasm optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021258 MONDO:0021225 True choroid neoplasm uvea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021259 MONDO:0003105 True prostate neoplasm prostate disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021259 MONDO:0006054 True prostate neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021271 MONDO:0000502 True villous adenoma of colon villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021271 MONDO:0000527 True villous adenoma of colon colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021273 MONDO:0001572 True leiomyoma of ciliary body leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021273 MONDO:0021486 True leiomyoma of ciliary body benign neoplasm of ciliary body UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021275 MONDO:0021605 True papilloma of eyelid benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021276 MONDO:0002363 True papilloma of buccal mucosa papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021276 MONDO:0021524 True papilloma of buccal mucosa benign neoplasm of buccal mucosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021279 MONDO:0004724 True mucoepidermoid carcinoma of submandibular gland submandibular gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021279 MONDO:0006286 True mucoepidermoid carcinoma of submandibular gland major salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021280 MONDO:0006286 True mucoepidermoid carcinoma of parotid gland major salivary gland mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021280 MONDO:0021331 True mucoepidermoid carcinoma of parotid gland carcinoma of parotid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021283 MONDO:0003518 True malignant teratoma of mediastinum mediastinum teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021284 MONDO:0004647 True carcinoma in situ of ureter in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021284 MONDO:0006481 True carcinoma in situ of ureter ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021285 MONDO:0004647 True carcinoma in situ of urethra in situ carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021285 MONDO:0021327 True carcinoma in situ of urethra carcinoma of urethra UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021287 MONDO:0004473 True carcinoma in situ of epiglottis epiglottis cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021287 MONDO:0004696 True carcinoma in situ of epiglottis larynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021288 MONDO:0000372 True carcinoma in situ of hypopharynx pharynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021288 MONDO:0005216 True carcinoma in situ of hypopharynx hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021289 MONDO:0004663 True carcinoma in situ of cecum colon carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021289 MONDO:0006029 True carcinoma in situ of cecum cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021290 MONDO:0003196 True carcinoma in situ of appendix appendix carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021291 MONDO:0003970 True carcinoma in situ of fundus of stomach gastric fundus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021291 MONDO:0004716 True carcinoma in situ of fundus of stomach stomach carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021292 MONDO:0003972 True carcinoma in situ of gastric body gastric body carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021292 MONDO:0004716 True carcinoma in situ of gastric body stomach carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021294 MONDO:0003834 True carcinoma in situ of gastric cardia gastric cardia carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021294 MONDO:0004716 True carcinoma in situ of gastric cardia stomach carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021296 MONDO:0005519 True carcinoma in situ of renal pelvis renal pelvis carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021297 MONDO:0000372 True carcinoma in situ of nasopharynx pharynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021297 MONDO:0015459 True carcinoma in situ of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021298 MONDO:0000372 True carcinoma in situ of oropharynx pharynx carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021298 MONDO:0044926 True carcinoma in situ of oropharynx oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021300 MONDO:0004971 True adenoid cystic carcinoma of oropharynx adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021300 MONDO:0044926 True adenoid cystic carcinoma of oropharynx oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021301 MONDO:0002482 True adenoma of nipple nipple neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021303 MONDO:0004251 True adenoma of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021303 MONDO:0006180 True adenoma of small intestine digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021309 MONDO:0002974 True malignant neoplasm of endocervix cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021310 MONDO:0005627 True malignant tumor of neck head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021310 MONDO:0021351 True malignant tumor of neck neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021311 MONDO:0021360 True malignant tumor of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021312 MONDO:0002817 True malignant tumor of adrenal cortex adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021312 MONDO:0036591 True malignant tumor of adrenal cortex adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021313 MONDO:0002235 True eyelid cancer eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021313 MONDO:0002236 True eyelid cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021315 MONDO:0005375 True malignant tumor of nasopharynx nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021315 MONDO:0005517 True malignant tumor of nasopharynx pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021316 MONDO:0004669 True malignant tumor of minor salivary gland salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021316 MONDO:0021370 True malignant tumor of minor salivary gland neoplasm of minor salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021317 MONDO:0001657 True cancer of cerebellum brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021317 MONDO:0002913 True cancer of cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021320 MONDO:0005627 True malignant tumor of floor of mouth head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021320 MONDO:0021383 True malignant tumor of floor of mouth neoplasm of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021321 MONDO:0021385 True malignant tumor of extrahepatic bile duct extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021322 MONDO:0002714 True malignant tumor of meninges central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021322 MONDO:0016743 True malignant tumor of meninges tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021323 MONDO:0003274 True malignant neoplasm of chest wall thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021323 MONDO:0021388 True malignant neoplasm of chest wall neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021324 MONDO:0007576 True malignant neoplasm of abdominal esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021325 MONDO:0007576 True malignant neoplasm of thoracic esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021326 MONDO:0007576 True malignant neoplasm of cervical esophagus esophageal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021327 MONDO:0004192 True carcinoma of urethra urethra cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021327 MONDO:0004993 True carcinoma of urethra carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021329 MONDO:0004611 True carcinoma of soft palate soft palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021329 MONDO:0044925 True carcinoma of soft palate oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021329 MONDO:0044926 True carcinoma of soft palate oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021331 MONDO:0004700 True carcinoma of parotid gland parotid gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021331 MONDO:0006284 True carcinoma of parotid gland major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021333 MONDO:0006834 True carcinoma of lip lip cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021335 MONDO:0000920 True carcinoma of duodenum duodenum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021335 MONDO:0005522 True carcinoma of duodenum small intestine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021337 MONDO:0006998 True tonsil carcinoma tonsil cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021337 MONDO:0044926 True tonsil carcinoma oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021339 MONDO:0004719 True carcinoma of hard palate hard palate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021339 MONDO:0044925 True carcinoma of hard palate oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021343 MONDO:0002038 True carcinoma of floor of mouth head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021343 MONDO:0021320 True carcinoma of floor of mouth malignant tumor of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021345 MONDO:0021246 True carcinoma of pharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021348 MONDO:0002329 True neoplasm of testis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021348 MONDO:0024582 True neoplasm of testis male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021350 MONDO:0005070 True neoplasm of thorax neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021351 MONDO:0005586 True neoplasm of neck head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021353 MONDO:0002654 True tumor of uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021353 MONDO:0021148 True tumor of uterus female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021354 MONDO:0002616 True tumor of adipose tissue mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021355 MONDO:0003749 True neoplasm of esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021355 MONDO:0021223 True neoplasm of esophagus digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021357 MONDO:0001142 True tumor of salivary gland salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021357 MONDO:0005586 True tumor of salivary gland head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021358 MONDO:0005586 True neoplasm of hypopharynx head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021358 MONDO:0020592 True neoplasm of hypopharynx disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021358 MONDO:0021246 True neoplasm of hypopharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021360 MONDO:0001223 True tumor of parathyroid gland parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021364 MONDO:0005586 True neoplasm of oropharynx head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021364 MONDO:0020592 True neoplasm of oropharynx disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021364 MONDO:0021246 True neoplasm of oropharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021366 MONDO:0003276 True neoplasm of middle ear middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021366 MONDO:0021233 True neoplasm of middle ear ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021368 MONDO:0021357 True neoplasm of major salivary gland tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021370 MONDO:0021357 True neoplasm of minor salivary gland tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021372 MONDO:0021374 True neoplasm of temporal lobe neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021373 MONDO:0021374 True neoplasm of parietal lobe neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021374 MONDO:0021211 True neoplasm of cerebral hemisphere brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021375 MONDO:0004251 True tumor of duodenum small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021378 MONDO:0021209 True neoplasm of endocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021379 MONDO:0021209 True neoplasm of epicardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021380 MONDO:0021209 True neoplasm of myocardium heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021381 MONDO:0021350 True neoplasm of pericardium neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021381 MONDO:0024757 True neoplasm of pericardium cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021383 MONDO:0005586 True neoplasm of floor of mouth head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021383 MONDO:0006858 True neoplasm of floor of mouth mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021385 MONDO:0021662 True extrahepatic bile duct neoplasm bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021386 MONDO:0021350 True neoplasm of mediastinum neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021388 MONDO:0021350 True neoplasm of chest wall neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021389 MONDO:0021052 True neoplasm of aortic body parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021390 MONDO:0005079 True polyp of ureter polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021390 MONDO:0021111 True polyp of ureter ureter neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021394 MONDO:0005079 True polyp of vagina polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021396 MONDO:0005079 True polyp of vulva polyp SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021402 MONDO:0005079 True polyp of external auditory canal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021402 MONDO:0021235 True polyp of external auditory canal external ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021424 MONDO:0005094 True hemangiopericytoma of skin hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021427 MONDO:0021333 True squamous cell carcinoma of lip carcinoma of lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021429 MONDO:0004958 True squamous cell carcinoma of floor of mouth oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021429 MONDO:0021343 True squamous cell carcinoma of floor of mouth carcinoma of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021431 MONDO:0004645 True squamous cell carcinoma of buccal mucosa cheek mucosa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021431 MONDO:0004958 True squamous cell carcinoma of buccal mucosa oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021437 MONDO:0005106 True lipoma of stomach lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021437 MONDO:0021449 True lipoma of stomach benign neoplasm of stomach UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021439 MONDO:0000627 True benign neoplasm of pituitary gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021439 MONDO:0017611 True benign neoplasm of pituitary gland pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021439 MONDO:0021451 True benign neoplasm of pituitary gland benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021440 MONDO:0002531 True benign neoplasm of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021441 MONDO:0021076 True benign neoplasm of exocrine pancreas pancreatic exocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021441 MONDO:0021470 True benign neoplasm of exocrine pancreas benign neoplasm of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021443 MONDO:0000630 True benign neoplasm of lymph node immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021443 MONDO:0024339 True benign neoplasm of lymph node lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021444 MONDO:0003062 True benign neoplasm of large intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021445 MONDO:0005165 True benign neoplasm of oral cavity benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021445 MONDO:0021245 True benign neoplasm of oral cavity oral cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021446 MONDO:0002354 True benign neoplasm of epiglottis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021446 MONDO:0004109 True benign neoplasm of epiglottis epiglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021447 MONDO:0000625 True benign neoplasm of testis benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021447 MONDO:0021348 True benign neoplasm of testis neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021449 MONDO:0000385 True benign neoplasm of stomach benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021449 MONDO:0021085 True benign neoplasm of stomach gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021450 MONDO:0000634 True benign neoplasm of heart thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021450 MONDO:0021209 True benign neoplasm of heart heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021451 MONDO:0021211 True benign neoplasm of brain brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021452 MONDO:0021238 True benign neoplasm of cornea cornea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021452 MONDO:0021454 True benign neoplasm of cornea benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021453 MONDO:0021231 True benign neoplasm of retina retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021453 MONDO:0021454 True benign neoplasm of retina benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021454 MONDO:0021220 True benign neoplasm of eye eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021455 MONDO:0005165 True benign neoplasm of neck benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021455 MONDO:0021351 True benign neoplasm of neck neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021456 MONDO:0000634 True benign neoplasm of sternum thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021456 MONDO:0021578 True benign neoplasm of sternum sternal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021457 MONDO:0021065 True benign neoplasm of pleura pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021458 MONDO:0000625 True benign neoplasm of penis benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021458 MONDO:0006895 True benign neoplasm of penis penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021459 MONDO:0000385 True benign neoplasm of esophagus benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021459 MONDO:0021355 True benign neoplasm of esophagus neoplasm of esophagus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021460 MONDO:0005165 True benign neoplasm of salivary gland benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021460 MONDO:0021357 True benign neoplasm of salivary gland tumor of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021461 MONDO:0021358 True benign neoplasm of hypopharynx neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021461 MONDO:0021523 True benign neoplasm of hypopharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021462 MONDO:0002165 True benign neoplasm of rectum rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021462 MONDO:0021444 True benign neoplasm of rectum benign neoplasm of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021463 MONDO:0000627 True benign neoplasm of parathyroid gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021463 MONDO:0021360 True benign neoplasm of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021464 MONDO:0002278 True benign neoplasm of cecum benign colon neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021464 MONDO:0005694 True benign neoplasm of cecum cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021465 MONDO:0001236 True benign neoplasm of appendix appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021467 MONDO:0002513 True benign neoplasm of renal pelvis kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021467 MONDO:0003719 True benign neoplasm of renal pelvis renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021468 MONDO:0021237 True benign neoplasm of adrenal medulla adrenal medulla neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021468 MONDO:0021511 True benign neoplasm of adrenal medulla benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021469 MONDO:0003046 True benign neoplasm of anus anus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021470 MONDO:0000385 True benign neoplasm of pancreas benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021470 MONDO:0021040 True benign neoplasm of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021471 MONDO:0000632 True benign neoplasm of endometrium uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021471 MONDO:0021251 True benign neoplasm of endometrium endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021472 MONDO:0003319 True benign neoplasm of scrotum scrotum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021473 MONDO:0000625 True benign neoplasm of epididymis benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021473 MONDO:0003283 True benign neoplasm of epididymis epididymal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021474 MONDO:0021233 True benign neoplasm of ear ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021475 MONDO:0004756 True benign neoplasm of nasal cavity nasal cavity neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021476 MONDO:0021240 True benign neoplasm of tongue tongue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021477 MONDO:0004047 True benign neoplasm of sphenoidal sinus sphenoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021478 MONDO:0005375 True benign neoplasm of nasopharynx nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021478 MONDO:0021523 True benign neoplasm of nasopharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021479 MONDO:0021364 True benign neoplasm of oropharynx neoplasm of oropharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021479 MONDO:0021523 True benign neoplasm of oropharynx benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021480 MONDO:0005286 True benign neoplasm of soft palate palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021481 MONDO:0021244 True benign neoplasm of submandibular gland submandibular gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021481 MONDO:0021492 True benign neoplasm of submandibular gland benign neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021482 MONDO:0021366 True benign neoplasm of middle ear neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021482 MONDO:0021474 True benign neoplasm of middle ear benign neoplasm of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021483 MONDO:0001757 True benign neoplasm of frontal sinus frontal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021484 MONDO:0006850 True benign neoplasm of maxillary sinus maxillary sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021485 MONDO:0021224 True benign neoplasm of iris iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021485 MONDO:0021454 True benign neoplasm of iris benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021486 MONDO:0021229 True benign neoplasm of ciliary body ciliary body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021487 MONDO:0021258 True benign neoplasm of choroid choroid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021487 MONDO:0021454 True benign neoplasm of choroid benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021488 MONDO:0021222 True benign neoplasm of lacrimal gland lacrimal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021488 MONDO:0021454 True benign neoplasm of lacrimal gland benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021489 MONDO:0002381 True benign neoplasm of sweat gland sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021489 MONDO:0021440 True benign neoplasm of sweat gland benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021490 MONDO:0006963 True benign neoplasm of sebaceous gland sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021490 MONDO:0021440 True benign neoplasm of sebaceous gland benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021491 MONDO:0021086 True benign neoplasm of gum gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021492 MONDO:0021368 True benign neoplasm of major salivary gland neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021492 MONDO:0021460 True benign neoplasm of major salivary gland benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021493 MONDO:0021370 True benign neoplasm of minor salivary gland neoplasm of minor salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021493 MONDO:0021460 True benign neoplasm of minor salivary gland benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021494 MONDO:0021243 True benign neoplasm of parotid gland parotid gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021494 MONDO:0021492 True benign neoplasm of parotid gland benign neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021495 MONDO:0021242 True benign neoplasm of sublingual gland sublingual gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021495 MONDO:0021492 True benign neoplasm of sublingual gland benign neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021496 MONDO:0005165 True benign neoplasm of lip benign neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021496 MONDO:0021249 True benign neoplasm of lip lip neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021497 MONDO:0021451 True benign neoplasm of cerebrum benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021498 MONDO:0021218 True benign neoplasm of placenta placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021499 MONDO:0002913 True benign neoplasm of cerebellum cerebellar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021499 MONDO:0021451 True benign neoplasm of cerebellum benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021500 MONDO:0036696 True benign neoplasm of spleen spleen neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021501 MONDO:0003062 True benign neoplasm of small intestine intestinal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021501 MONDO:0004251 True benign neoplasm of small intestine small intestine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021503 MONDO:0000385 True benign neoplasm of gallbladder benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021503 MONDO:0021253 True benign neoplasm of gallbladder gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021505 MONDO:0021378 True benign neoplasm of endocardium neoplasm of endocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021505 MONDO:0021450 True benign neoplasm of endocardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021506 MONDO:0021234 True benign neoplasm of spinal cord spinal cord neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021507 MONDO:0021228 True benign neoplasm of brain stem brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021507 MONDO:0021451 True benign neoplasm of brain stem benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021508 MONDO:0021379 True benign neoplasm of epicardium neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021508 MONDO:0021450 True benign neoplasm of epicardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021509 MONDO:0021380 True benign neoplasm of myocardium neoplasm of myocardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021509 MONDO:0021450 True benign neoplasm of myocardium benign neoplasm of heart UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021510 MONDO:0000625 True benign neoplasm of prostate benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021510 MONDO:0021259 True benign neoplasm of prostate prostate neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021511 MONDO:0021227 True benign neoplasm of adrenal gland adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021512 MONDO:0005197 True benign neoplasm of thymus thymus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021513 MONDO:0021250 True benign neoplasm of tonsil tonsil neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021514 MONDO:0000634 True benign neoplasm of pericardium thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021514 MONDO:0021381 True benign neoplasm of pericardium neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021515 MONDO:0001764 True benign neoplasm of ethmoidal sinus ethmoidal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021516 MONDO:0002353 True benign neoplasm of glottis glottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021516 MONDO:0002354 True benign neoplasm of glottis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021517 MONDO:0021210 True benign neoplasm of trachea trachea neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021518 MONDO:0005286 True benign neoplasm of hard palate palatal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021518 MONDO:0021445 True benign neoplasm of hard palate benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021520 MONDO:0005165 True benign neoplasm of floor of mouth benign neoplasm SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021520 MONDO:0021383 True benign neoplasm of floor of mouth neoplasm of floor of mouth UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021521 MONDO:0000634 True benign neoplasm of mediastinum thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021521 MONDO:0021386 True benign neoplasm of mediastinum neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021522 MONDO:0000631 True benign neoplasm of lower jaw bone bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021523 MONDO:0005165 True benign neoplasm of pharynx benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021523 MONDO:0021246 True benign neoplasm of pharynx pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021524 MONDO:0005165 True benign neoplasm of buccal mucosa benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021524 MONDO:0021241 True benign neoplasm of buccal mucosa buccal mucosa neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021525 MONDO:0000632 True benign neoplasm of corpus uteri uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021525 MONDO:0021254 True benign neoplasm of corpus uteri corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021527 MONDO:0016743 True benign neoplasm of meninges tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021528 MONDO:0000620 True benign neoplasm of male breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021529 MONDO:0000634 True benign neoplasm of chest wall thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021529 MONDO:0021388 True benign neoplasm of chest wall neoplasm of chest wall UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021530 MONDO:0000933 True benign neoplasm of subglottis subglottis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021530 MONDO:0002354 True benign neoplasm of subglottis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021531 MONDO:0005167 True fibroma of lung fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021531 MONDO:0021117 True fibroma of lung lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021532 MONDO:0005167 True fibroma of prostate fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021532 MONDO:0021510 True fibroma of prostate benign neoplasm of prostate UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021533 MONDO:0000386 True intestinal neuroendocrine tumor G1 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021533 MONDO:0002883 True intestinal neuroendocrine tumor G1 intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021533 MONDO:0005369 True intestinal neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021534 MONDO:0006162 True rectal neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021534 MONDO:0015068 True rectal neuroendocrine tumor G1 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021535 MONDO:0005369 True pancreatic neuroendocrine tumor G1 carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021535 MONDO:0019954 True pancreatic neuroendocrine tumor G1 pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021537 MONDO:0015459 True undifferentiated carcinoma of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021538 MONDO:0004958 True verrucous carcinoma of oral cavity oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021538 MONDO:0006006 True verrucous carcinoma of oral cavity verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021540 MONDO:0021117 True hamartoma of lung lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021542 MONDO:0006500 True hemangioma of choroid hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021542 MONDO:0021487 True hemangioma of choroid benign neoplasm of choroid UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021543 MONDO:0006500 True hemangioma of gingiva hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021543 MONDO:0021491 True hemangioma of gingiva benign neoplasm of gum UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021545 MONDO:0002616 True myomatous neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021547 MONDO:0019507 True amelogenesis imperfecta type 3B amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0021548 MONDO:0011060 True total early-onset cataract early-onset non-syndromic cataract UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021553 MONDO:0002565 True transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021571 MONDO:0007462 True multiple sclerosis, susceptibility to 1 multiple sclerosis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0021573 MONDO:0014769 True oocyte maturation defect 2 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0021574 MONDO:0014769 True oocyte maturation defect 3 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0021575 MONDO:0014769 True oocyte maturation defect 4 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0021576 MONDO:0021092 True fallopian tube endometrioid tumor fallopian tube neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021578 MONDO:0021350 True sternal neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021583 MONDO:0002531 True melanocytic skin neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021583 MONDO:0021143 True melanocytic skin neoplasm melanocytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021588 MONDO:0003876 True eyelid sebaceous gland carcinoma eyelid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021588 MONDO:0006327 True eyelid sebaceous gland carcinoma ocular sebaceous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021605 MONDO:0002235 True benign eyelid neoplasm eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021605 MONDO:0021454 True benign eyelid neoplasm benign neoplasm of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021607 MONDO:0003382 True eyelid seborrheic keratosis eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021607 MONDO:0008420 True eyelid seborrheic keratosis seborrheic keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021627 MONDO:0002407 True eyelid capillary hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021627 MONDO:0021605 True eyelid capillary hemangioma benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021631 MONDO:0019781 True brain astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021631 MONDO:0021632 True brain astrocytoma primary brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021632 MONDO:0021211 True primary brain neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021633 MONDO:0021631 True cerebral astrocytoma brain astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021634 MONDO:0002531 True epithelial skin neoplasm skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021634 MONDO:0005626 True epithelial skin neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021636 MONDO:0021042 True astrocytic tumor glioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021637 MONDO:0021042 True low grade glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021638 MONDO:0021636 True low grade astrocytic tumor astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021638 MONDO:0021637 True low grade astrocytic tumor low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021639 MONDO:0021637 True grade II glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021640 MONDO:0100342 True grade III glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021644 MONDO:0001221 True esophageal varices without bleeding esophageal varices SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021645 MONDO:0001221 True esophageal varices with bleeding esophageal varices SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021650 MONDO:0019496 True uterine corpus neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021650 MONDO:0021254 True uterine corpus neuroendocrine neoplasm corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021652 MONDO:0004970 True diffuse type adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021656 MONDO:0005040 True nongerminomatous germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021657 MONDO:0006055 True ovarian sex cord-stromal tumor sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0021657 MONDO:0021068 True ovarian sex cord-stromal tumor ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021659 MONDO:0004993 True combined carcinoid and adenocarcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021662 MONDO:0002887 True bile duct neoplasm bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021663 MONDO:0005096 True sarcomatoid squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021663 MONDO:0006406 True sarcomatoid squamous cell carcinoma sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021681 MONDO:0005550 True sexually transmitted disease infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021812 MONDO:0021489 True adnexal spiradenoma/cylindroma of a sweat gland benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021879 MONDO:0020325 True small cell variant anaplastic large cell lymphoma anaplastic large cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022057 MONDO:0021192 True calcifying epithelial odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022171 MONDO:0024467 True chromhidrosis apocrine sweat gland disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022173 MONDO:0016932 True chromosome 11q trisomy partial duplication of chromosome 11 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022174 MONDO:0017277 True chromosome 12p deletion partial deletion of chromosome 12 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022410 MONDO:0005308 True retinal ciliopathy ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022519 MONDO:0004496 True autoimmune myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022529 MONDO:0005784 True BK-virus nephropathy hantavirus hemorrhagic fever with renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022578 MONDO:0004986 True childhood bladder carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022642 MONDO:0005369 True childhood carcinoid tumor carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022642 MONDO:0021079 True childhood carcinoid tumor childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022697 MONDO:0006497 True athetoid cerebral palsy cerebral palsy SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022742 MONDO:0004979 True occupational asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0022754 MONDO:0016879 True chromosome 17p deletion partial deletion of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022756 MONDO:0016866 True chromosome 1q deletion partial deletion of chromosome 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022762 MONDO:0016869 True chromosome 4 short arm deletion partial deletion of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022772 MONDO:0005055 True classic Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022963 MONDO:0016729 True desmoplastic infantile astrocytoma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022965 MONDO:0016729 True desmoplastic infantile ganglioglioma mixed neuronal-glial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022993 MONDO:0004782 True dipsogenic diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0023069 MONDO:0002467 True enlarged vestibular aqueduct syndrome inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0023122 MONDO:0005159 True familial prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023188 MONDO:0018381 True Freiberg disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023206 MONDO:0019954 True functional pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023206 MONDO:0021120 True functional pancreatic neuroendocrine tumor functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023227 MONDO:0004782 True gestational diabetes insipidus diabetes insipidus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0023273 MONDO:0011934 True pigmented dermatofibrosarcoma protuberans dermatofibrosarcoma protuberans UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023283 MONDO:0006036 True ovarian granulosa cell tumor granulosa cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023283 MONDO:0021657 True ovarian granulosa cell tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023297 MONDO:0005083 True guttate psoriasis psoriasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023597 MONDO:0018955 True laryngeal papillomatosis recurrent respiratory papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023619 MONDO:0005012 True lentigo maligna melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023644 MONDO:0002038 True lip and oral cavity carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023655 MONDO:0021094 True immunodeficiency 14b, autosomal recessive immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0023657 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 65 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0023659 MONDO:0100062 True developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023660 MONDO:0019623 True angioedema, hereditary, 6 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0023662 MONDO:0019313 True lymphatic malformation 10 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0023664 MONDO:0004983 True spermatogenic failure 54 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023670 MONDO:0015229 True Bardet-Biedl syndrome 20 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023671 MONDO:0025193 True oculopharyngodistal myopathy 3 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0023682 MONDO:0006239 True tympanic paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023726 MONDO:0005744 True mediastinal yolk sac tumor yolk sac tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023726 MONDO:0006298 True mediastinal yolk sac tumor mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024182 MONDO:0006676 True dry beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024183 MONDO:0006676 True wet beriberi beriberi UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024227 MONDO:0006580 True miliaria pustulosa miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024228 MONDO:0006580 True miliaria profunda miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024229 MONDO:0006580 True miliaria crystallina miliaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024235 MONDO:0037254 True Brenner tumor transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024240 MONDO:0005506 True eccrine carcinoma eccrine sweat gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024240 MONDO:0005524 True eccrine carcinoma sweat gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024245 MONDO:0024240 True ductal eccrine adenocarcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024246 MONDO:0021110 True syringofibroadenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024246 MONDO:0024247 True syringofibroadenoma benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024246 MONDO:0024666 True syringofibroadenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024247 MONDO:0002090 True benign eccrine neoplasm eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024247 MONDO:0021489 True benign eccrine neoplasm benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024252 MONDO:0015653 True global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024257 MONDO:0020128 True hereditary motor neuron disease motor neuron disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024264 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024265 MONDO:0007473 True Duane syndrome type 1 Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024266 MONDO:0011827 True patent ductus arteriosus 3 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024276 MONDO:0005626 True glandular cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024282 MONDO:0003756 True mucinous ovarian cancer ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024282 MONDO:0018364 True mucinous ovarian cancer malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024286 MONDO:0000629 True benign blood vessel neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024286 MONDO:0021080 True benign blood vessel neoplasm blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024296 MONDO:0024757 True vascular neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024301 MONDO:0006504 True acquired mineral metabolism disease acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024303 MONDO:0002875 True external hirudiniasis parasitic ectoparasitic infectious disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024305 MONDO:0006504 True acquired hyperprolactinemia acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024306 MONDO:0006504 True acquired lactic acidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024309 MONDO:0019941 True neuropathy, hereditary sensory and autonomic, type 2A hereditary sensory and autonomic neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024312 MONDO:0024311 True cancer of short bone of upper limb cancer affecting bone of limb skeleton SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024320 MONDO:0002467 True inner ear neoplasm inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024320 MONDO:0021233 True inner ear neoplasm ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024323 MONDO:0018327 True glomangiomyoma glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024326 MONDO:0003308 True pleural adenomatoid tumor pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024326 MONDO:0004230 True pleural adenomatoid tumor adenomatoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024326 MONDO:0021457 True pleural adenomatoid tumor benign neoplasm of pleura UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024331 MONDO:0005575 True colorectal carcinoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024331 MONDO:0006181 True colorectal carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024336 MONDO:0002198 True vulvar adenocarcinoma vulvar glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024336 MONDO:0004970 True vulvar adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024336 MONDO:0005215 True vulvar adenocarcinoma vulvar carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024337 MONDO:0021066 True urothelial neoplasm urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024337 MONDO:0037254 True urothelial neoplasm transitional cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024338 MONDO:0024276 True mucinous neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024339 MONDO:0002334 True lymph node neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024339 MONDO:0004928 True lymph node neoplasm lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024340 MONDO:0005072 True retinal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024341 MONDO:0021231 True retinal cell neoplasm retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024361 MONDO:0003406 True circadian rhythm sleep disorder sleep-wake disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024377 MONDO:0024361 True circadian rhythm sleep disorder, delayed sleep phase type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024378 MONDO:0024361 True circadian rhythm sleep disorder, advanced sleep phase type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024379 MONDO:0024361 True circadian rhythm sleep disorder, irregular sleep wake type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024381 MONDO:0024361 True circadian rhythm sleep disorder, jet lag type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024382 MONDO:0024361 True circadian rhythm sleep disorder, shift work type circadian rhythm sleep disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024386 MONDO:0003050 True large cell lung carcinoma, clear cell variant lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024387 MONDO:0000646 True benign ovarian sex cord-stromal tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024387 MONDO:0021657 True benign ovarian sex cord-stromal tumor ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024387 MONDO:0024988 True benign ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024457 MONDO:0017998 True neurodegeneration with brain iron accumulation 2A PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024457 MONDO:0020127 True neurodegeneration with brain iron accumulation 2A hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024461 MONDO:0024286 True angiomatosis benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024463 MONDO:0009299 True ovarian dysgenesis 1 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024464 MONDO:0013099 True pituitary hormone deficiency, combined, 1 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024465 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 2 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024466 MONDO:0011090 True facial paresis, hereditary congenital, 1 isolated hereditary congenital facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024469 MONDO:0002616 True chondrogenic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024470 MONDO:0005165 True benign chondrogenic neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024470 MONDO:0024469 True benign chondrogenic neoplasm chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024474 MONDO:0005626 True intraepithelial neoplasia epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024474 MONDO:0021074 True intraepithelial neoplasia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024475 MONDO:0002532 True squamous cell intraepithelial neoplasia squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024475 MONDO:0024474 True squamous cell intraepithelial neoplasia intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024477 MONDO:0002514 True liver and intrahepatic bile duct neoplasm hepatobiliary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024477 MONDO:0005154 True liver and intrahepatic bile duct neoplasm liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024498 MONDO:0100242 True glioma susceptibility 1 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024499 MONDO:0019060 True vascular bone neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024499 MONDO:0024296 True vascular bone neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024501 MONDO:0001236 True appendix neuroendocrine neoplasm appendiceal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024502 MONDO:0021253 True gallbladder neuroendocrine neoplasm gallbladder neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024502 MONDO:0024503 True gallbladder neuroendocrine neoplasm digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024503 MONDO:0004335 True digestive system neuroendocrine neoplasm digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024503 MONDO:0019496 True digestive system neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024503 MONDO:0021223 True digestive system neuroendocrine neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024506 MONDO:0007034 True Adams-Oliver syndrome 1 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024507 MONDO:0007119 True aniridia 1 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024517 MONDO:0008075 True schwannomatosis 1 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024519 MONDO:0018470 True renal hypodysplasia/aplasia 1 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024520 MONDO:0018470 True renal hypodysplasia/aplasia 3 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024521 MONDO:0007031 True aortic aneurysm, familial abdominal, 1 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024522 MONDO:0007101 True amyloidosis, primary localized cutaneous, 1 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024523 MONDO:0007194 True aortic valve disease 1 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024524 MONDO:0000736 True dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024526 MONDO:0000200 True Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024527 MONDO:0007671 True glomerulopathy with fibronectin deposits 1 fibronectin glomerulopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024529 MONDO:0008004 True MVP1 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024530 MONDO:0008029 True Bethlem myopathy 1 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024531 MONDO:0008051 True myopathy, tubular aggregate, 1 tubular aggregate myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024532 MONDO:0008163 True otofaciocervical syndrome 1 otofaciocervical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024533 MONDO:0017148 True pulmonary hypertension, primary, 1 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024535 MONDO:0008429 True Singleton-Merten syndrome 1 Singleton-Merten dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024536 MONDO:0008733 True glucocorticoid deficiency 1 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024537 MONDO:0008891 True Brown-Vialetto-van Laere syndrome 1 riboflavin transporter deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024538 MONDO:0008947 True basal ganglia calcification, idiopathic, 1 bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024539 MONDO:0008982 True choroidal dystrophy, central areolar, 1 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024540 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024542 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024543 MONDO:0009242 True brittle cornea syndrome 1 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024546 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024547 MONDO:0009832 True pancreatic agenesis 1 pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024548 MONDO:0010033 True peeling skin syndrome 1 generalized peeling skin syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024549 MONDO:0000170 True microphthalmia with coloboma 1 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024550 MONDO:0015942 True frontometaphyseal dysplasia 1 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024551 MONDO:0010627 True X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024552 MONDO:0010672 True linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024553 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024554 MONDO:0010924 True D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024555 MONDO:0011391 True megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024556 MONDO:0020310 True epilepsy, familial focal, with variable foci 1 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024557 MONDO:0011457 True ataxia-telangiectasia-like disorder 1 ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024558 MONDO:0011555 True radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024559 MONDO:0019625 True aortic aneurysm, familial thoracic 1 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024560 MONDO:0011827 True PDA1 patent ductus arteriosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024562 MONDO:0012061 True sick sinus syndrome 1 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024564 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 1 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024565 MONDO:0013311 True ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024566 MONDO:0000032 True febrile seizures, familial, 11 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024566 MONDO:0005071 True febrile seizures, familial, 11 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024567 MONDO:0014176 True hypotonia, infantile, with psychomotor retardation and characteristic facies 1 hypotonia, infantile, with psychomotor retardation and characteristic facies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024582 MONDO:0003150 True male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024582 MONDO:0006054 True male reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024607 MONDO:0019950 True congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024608 MONDO:0002428 True dientamoebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024609 MONDO:0002195 True vulvar squamous cell carcinoma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024609 MONDO:0005215 True vulvar squamous cell carcinoma vulvar carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024615 MONDO:0005157 True T-cell and NK-cell neoplasm lymphoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024621 MONDO:0005278 True serous cystadenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024621 MONDO:0005596 True serous cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024622 MONDO:0004970 True thyroid gland adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024622 MONDO:0015075 True thyroid gland adenocarcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024637 MONDO:0004992 True malignant soft tissue neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024637 MONDO:0006424 True malignant soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024638 MONDO:0003525 True pancreatic gastrinoma pancreatic gastrin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024638 MONDO:0023206 True pancreatic gastrinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024639 MONDO:0015062 True gastric enterochromaffin cell serotonin-producing neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024642 MONDO:0015062 True gastric neuroendocrine tumor G2 gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024645 MONDO:0005070 True retroperitoneal neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024647 MONDO:0002118 True urolithiasis urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024649 MONDO:0016167 True optic tract astrocytoma optic pathway glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024653 MONDO:0005586 True skull neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024653 MONDO:0024654 True skull neoplasm skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024656 MONDO:0004699 True colorectal lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024656 MONDO:0005575 True colorectal lymphoma colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024658 MONDO:0021321 True extrahepatic bile duct sarcoma malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024659 MONDO:0005055 True colorectal Kaposi sarcoma Kaposi's sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024659 MONDO:0005814 True colorectal Kaposi sarcoma intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024660 MONDO:0004972 True tubular adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024661 MONDO:0004972 True tubulovillous adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024662 MONDO:0005484 True colorectal tubulovillous adenoma colorectal adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024662 MONDO:0024661 True colorectal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024666 MONDO:0021440 True benign epithelial skin neoplasm benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024666 MONDO:0021634 True benign epithelial skin neoplasm epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024666 MONDO:0036976 True benign epithelial skin neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024673 MONDO:0002013 True skin lymphangioma lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024675 MONDO:0019004 True adult kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024676 MONDO:0019004 True childhood kidney Wilms tumor kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024676 MONDO:0036511 True childhood kidney Wilms tumor childhood malignant kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024677 MONDO:0005048 True pancreatic insulinoma pancreatic insulin-producing neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024677 MONDO:0023206 True pancreatic insulinoma functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024685 MONDO:0004643 True Philadelphia-positive myelogenous leukemia myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024686 MONDO:0002400 True tenosynovial giant cell tumor, diffuse type synovitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024686 MONDO:0002522 True tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024686 MONDO:0024715 True tenosynovial giant cell tumor, diffuse type benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024711 MONDO:0002367 True malignant mixed epithelial stromal tumor of the kidney kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024711 MONDO:0002386 True malignant mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor of the kidney UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024711 MONDO:0005853 True malignant mixed epithelial stromal tumor of the kidney malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024715 MONDO:0002528 True benign synovial neoplasm synovium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024715 MONDO:0044335 True benign synovial neoplasm benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024744 MONDO:0016717 True childhood choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024744 MONDO:0021079 True childhood choroid plexus neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024746 MONDO:0002601 True immature teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024757 MONDO:0004995 True cardiovascular neoplasm cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024757 MONDO:0005070 True cardiovascular neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024770 MONDO:0031384 True autoinflammatory syndrome, familial, X-linked, Behcet-like 2 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024771 MONDO:0018949 True myopathy, distal, 7, adult-onset, X-linked distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024773 MONDO:0004983 True spermatogenic failure, X-linked, 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024777 MONDO:0021094 True immunodeficiency 98 with autoinflammation, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024781 MONDO:0021094 True immunodeficiency 102 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024797 MONDO:0021228 True adult brain stem neoplasm brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024813 MONDO:0021117 True pulmonary sulcus neoplasm lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024857 MONDO:0024746 True immature extragonadal teratoma immature teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024861 MONDO:0015864 True mixed teratoma and seminoma mixed germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024868 MONDO:0024879 True metastatic carcinoma in the adrenal medulla metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024873 MONDO:0002290 True clitoral carcinoma clitoris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024873 MONDO:0005215 True clitoral carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024878 MONDO:0004993 True secondary carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024878 MONDO:0024881 True secondary carcinoma secondary malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024879 MONDO:0024878 True metastatic carcinoma secondary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024879 MONDO:0024880 True metastatic carcinoma metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024880 MONDO:0024881 True metastatic malignant neoplasm secondary malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024880 MONDO:0024883 True metastatic malignant neoplasm metastatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024881 MONDO:0004992 True secondary malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024881 MONDO:0024882 True secondary malignant neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024884 MONDO:0024879 True metastatic carcinoma in the bone metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024885 MONDO:0018364 True malignant ovarian serous tumor malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024885 MONDO:0037255 True malignant ovarian serous tumor ovarian serous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024886 MONDO:0006071 True serous adenofibroma adenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024890 MONDO:0021193 True pineal parenchymal cell neoplasm neuroepithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024890 MONDO:0021232 True pineal parenchymal cell neoplasm pineal body neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024892 MONDO:0019065 True soft tissue amyloid neoplasm amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024988 MONDO:0000383 True sex cord-stromal benign neoplasm benign reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0025193 MONDO:0016106 True oculopharyngodistal myopathy progressive muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025193 MONDO:0018949 True oculopharyngodistal myopathy distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0025353 MONDO:0100062 True developmental and epileptic encephalopathy, 90 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025354 MONDO:0004983 True spermatogenic failure, X-linked, 3 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025514 MONDO:0018882 True livedoid vasculopathy vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0025556 MONDO:0004784 True isocyanate induced asthma allergic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0025690 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 2 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0025691 MONDO:0044807 True dystonia 30 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0025699 MONDO:0015452 True Coffin-Siris syndrome 12 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025701 MONDO:0019046 True leukodystrophy, hypomyelinating, 22 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0025708 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 2 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0025712 MONDO:0019623 True angioedema, hereditary, 4 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0025713 MONDO:0019623 True angioedema, hereditary, 7 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026720 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026721 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026722 MONDO:0003847 True Mullegama-Klein-Martinez syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0026723 MONDO:0019181 True intellectual developmental disorder, X-linked 108 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0026724 MONDO:0020119 True Paganini-Miozzo syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026726 MONDO:0002350 True nephrotic syndrome, type 20 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026727 MONDO:0003847 True Shukla-Vernon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0026729 MONDO:0005500 True congenital disorder of glycosylation, type ICC congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026731 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 8 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026732 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 9 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026733 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026762 MONDO:0025445 True Wieacker-Wolff syndrome, female-restricted Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026763 MONDO:0016296 True holoprosencephaly 13, X-linked holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026765 MONDO:0005501 True congenital disorder of glycosylation, type IIr congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026767 MONDO:0021094 True immunodeficiency 74, COVID-19-related, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026777 MONDO:0019751 True VEXAS syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027048 MONDO:0033304 True deafness, Y-linked 2 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0027069 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0027353 MONDO:0015780 True autosomal recessive dyskeratosis congenita 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027407 MONDO:0012455 True Kleefstra syndrome 1 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0027676 MONDO:0019719 True congenital anomalies of kidney and urinary tract 2 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0027694 MONDO:0005144 True amyotrophic lateral sclerosis type 23 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0027766 MONDO:0006573 True generalized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027767 MONDO:0006573 True partial lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027772 MONDO:0004957 True lung colloid adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0027772 MONDO:0005061 True lung colloid adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0028226 MONDO:0018542 True autosomal recessive severe congenital neutropenia severe congenital neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0029132 MONDO:0008323 True Liddle syndrome 3 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029133 MONDO:0015151 True muscular dystrophy, limb-girdle, autosomal dominant 4 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029134 MONDO:0006025 True severe combined immunodeficiency due to CARMIL2 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0029135 MONDO:0000173 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 muscular dystrophy-dystroglycanopathy, type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029135 MONDO:0015152 True muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0029136 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 23 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029137 MONDO:0019587 True hearing loss, autosomal dominant 74 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029138 MONDO:0100062 True developmental and epileptic encephalopathy, 67 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029141 MONDO:0019501 True Usher syndrome, type 4 Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0029142 MONDO:0019588 True hearing loss, autosomal recessive 111 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0029465 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030004 MONDO:0020836 True autism, susceptibility to, 20 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030005 MONDO:0957599 True epilepsy, early-onset, with or without developmental delay epilepsy, early-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030008 MONDO:0000732 True combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030009 MONDO:0008756 True alopecia-intellectual disability syndrome 4 alopecia - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030010 MONDO:0018555 True hypogonadotropic hypogonadism 25 with anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030013 MONDO:0021094 True immunodeficiency 66 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030014 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 26 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030015 MONDO:0000159 True bone marrow failure syndrome 6 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030017 MONDO:0000732 True combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030019 MONDO:0011773 True anauxetic dysplasia 3 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030020 MONDO:0000732 True combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030026 MONDO:0003847 True retinal dystrophy with leukodystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030027 MONDO:0003233 True tremor, hereditary essential, 6 essential tremor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030031 MONDO:0018838 True lissencephaly 10 lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030034 MONDO:0020074 True epilepsy, progressive myoclonic, 11 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030043 MONDO:0005501 True congenital disorder of glycosylation, type iit congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030044 MONDO:0009626 True pseudo-TORCH syndrome 3 pseudo-TORCH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030049 MONDO:0003847 True 46,xx sex reversal 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030054 MONDO:0100062 True developmental and epileptic encephalopathy, 86 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030055 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 8 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030056 MONDO:0100238 True Fanconi renotubular syndrome 5 inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030061 MONDO:0020341 True periventricular nodular heterotopia 9 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030062 MONDO:0016342 True arrhythmogenic right ventricular dysplasia, familial, 14 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030064 MONDO:0016227 True episodic ataxia, type 9 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030069 MONDO:0018037 True hyper-IgE recurrent infection syndrome 5, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030070 MONDO:0018677 True heterotaxy, visceral, 9, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030071 MONDO:0003847 True retinitis pigmentosa 89 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030072 MONDO:0100062 True developmental and epileptic encephalopathy, 88 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030074 MONDO:0003847 True spondylometaphyseal dysplasia with corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030077 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 3 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030087 MONDO:0100164 True diabetes mellitus, permanent neonatal 2 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030088 MONDO:0100164 True diabetes mellitus, permanent neonatal 3 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030089 MONDO:0100164 True diabetes mellitus, permanent neonatal 4 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030116 MONDO:0008394 True silver-russell syndrome 2 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030118 MONDO:0008394 True silver-russell syndrome 4 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030258 MONDO:0020135 True pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030259 MONDO:0020135 True pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030260 MONDO:0020135 True pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030261 MONDO:0020135 True pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030263 MONDO:0019046 True leukodystrophy, hypomyelinating, 21 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030266 MONDO:0021094 True immunodeficiency 80 with or without congenital cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030268 MONDO:0100062 True developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030270 MONDO:0019313 True lymphatic malformation 9 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030281 MONDO:0015168 True arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030293 MONDO:0019623 True angioedema, hereditary, 5 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030294 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 3 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030296 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 4 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030298 MONDO:0019623 True angioedema, hereditary, 8 hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030300 MONDO:0016333 True cardiomyopathy, dilated, 2D familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030302 MONDO:0021094 True immunodeficiency 81 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030307 MONDO:0004983 True spermatogenic failure 55 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030308 MONDO:0021094 True immunodeficiency 82 with systemic inflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030311 MONDO:0000732 True combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030312 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 29 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030314 MONDO:0005265 True inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030316 MONDO:0019313 True lymphatic malformation 11 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030317 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 28 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030318 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 30 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030323 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 31 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030326 MONDO:0018158 True mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030329 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 5 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030330 MONDO:0016340 True cardiomyopathy, familial restrictive, 6 familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030331 MONDO:0019078 True Ritscher-Schinzel syndrome 4 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030332 MONDO:0016575 True ciliary dyskinesia, primary, 46 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030333 MONDO:0021094 True immunodeficiency 84 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030335 MONDO:0000824 True diarrhea 12, with microvillus atrophy congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030337 MONDO:0100237 True cutis laxa, autosomal recessive, type 2E inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030338 MONDO:0000819 True anencephaly 2 anencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030339 MONDO:0016660 True microcephaly 28, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030341 MONDO:0018940 True myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030346 MONDO:0016575 True ciliary dyskinesia, primary, 47, and lissencephaly primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030353 MONDO:0018772 True Joubert syndrome 38 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030354 MONDO:0001347 True facioscapulohumeral muscular dystrophy 3, digenic facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030355 MONDO:0001347 True facioscapulohumeral muscular dystrophy 4, digenic facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030356 MONDO:0018770 True short-rib thoracic dysplasia 21 without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030360 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 6 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030361 MONDO:0018866 True Aicardi-Goutieres syndrome 8 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030362 MONDO:0018866 True Aicardi-Goutieres syndrome 9 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030366 MONDO:0016333 True cardiomyopathy, dilated, 2E familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030374 MONDO:0023880 True WHIM syndrome 2 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030375 MONDO:0024189 True neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030376 MONDO:0023910 True Martsolf syndrome 2 Martsolf syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030378 MONDO:0000732 True combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030397 MONDO:0024193 True portal hypertension, noncirrhotic, 2 portal hypertension, noncirrhotic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030399 MONDO:0023961 True visceral neuropathy, familial, 2, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030423 MONDO:0005501 True congenital disorder of glycosylation, type 2v congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030428 MONDO:0021094 True immunodeficiency 85 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030430 MONDO:0004983 True spermatogenic failure 56 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030433 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, type 2FF Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030436 MONDO:0020099 True anemia, sideroblastic, 5 inherited sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030437 MONDO:0005501 True congenital disorder of glycosylation, type IIw congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030438 MONDO:0020135 True pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030439 MONDO:0004983 True spermatogenic failure 57 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030440 MONDO:0015993 True cone-rod dystrophy 22 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030448 MONDO:0021094 True immunodeficiency 86 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030449 MONDO:0019588 True hearing loss, autosomal recessive 118, with cochlear aplasia hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030453 MONDO:0100062 True developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030454 MONDO:0018772 True Joubert syndrome 39 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030455 MONDO:0044807 True dystonia 31 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030456 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 27 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030457 MONDO:0021094 True immunodeficiency 87 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030458 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, Type 2HH Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030462 MONDO:0018772 True Joubert syndrome 40 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030463 MONDO:0004983 True spermatogenic failure 58 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030465 MONDO:0005129 True cataract 49 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030471 MONDO:0009627 True Galloway-Mowat syndrome 9 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030472 MONDO:0100062 True developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030473 MONDO:0100062 True developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030474 MONDO:0018677 True heterotaxy, visceral, 10, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030475 MONDO:0018677 True heterotaxy, visceral, 11, autosomal, with male infertility visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030476 MONDO:0009627 True Galloway-Mowat syndrome 10 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030480 MONDO:0019588 True hearing loss, autosomal recessive 119 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030482 MONDO:0019064 True spastic paraplegia 84, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030483 MONDO:0021094 True immunodeficiency 88 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030484 MONDO:0021094 True immunodeficiency 89 and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030486 MONDO:0044807 True dystonia 32 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030487 MONDO:0016763 True spondylometaphyseal dysplasia, pagnamenta type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030489 MONDO:0017610 True epidermolysis bullosa simplex 2A, generalized severe epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030490 MONDO:0014769 True oocyte maturation defect 11 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030491 MONDO:0021094 True immunodeficiency 91 and hyperinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030498 MONDO:0021094 True immunodeficiency 92 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030500 MONDO:0018954 True Loeys-Dietz syndrome 6 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030503 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 7, with or without hearing loss progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030505 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 8 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030506 MONDO:0009299 True ovarian dysgenesis 9 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030507 MONDO:0004983 True spermatogenic failure 61 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030508 MONDO:0004983 True spermatogenic failure 62 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030512 MONDO:0019064 True spastic paraplegia 85, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030513 MONDO:0044807 True dystonia 33 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030514 MONDO:0019046 True leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030515 MONDO:0004983 True spermatogenic failure 63 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030517 MONDO:0018053 True trichothiodystrophy 8, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030518 MONDO:0018053 True trichothiodystrophy 9, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030523 MONDO:0014769 True oocyte maturation defect 12 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030524 MONDO:0019249 True mucopolysaccharidosis, type 10 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030525 MONDO:0017610 True epidermolysis bullosa simplex 2B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030527 MONDO:0017610 True epidermolysis bullosa simplex 2C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030528 MONDO:0021094 True immunodeficiency 93 and hypertrophic cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030529 MONDO:0015977 True agammaglobulinemia 10, autosomal dominant agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030531 MONDO:0004983 True spermatogenic failure 65 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030533 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 73 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030534 MONDO:0018555 True hypogonadotropic hypogonadism 26 with or without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030535 MONDO:0017610 True epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030537 MONDO:0800031 True central hypoventilation syndrome, congenital, 2, and autonomic dysfunction central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030538 MONDO:0044807 True dystonia 34, myoclonic inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030539 MONDO:0800031 True central hypoventilation syndrome, congenital, 3 central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030543 MONDO:0000732 True combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030549 MONDO:0019587 True hearing loss, autosomal dominant 81 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030553 MONDO:0019696 True acromesomelic dysplasia 4 acromesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030602 MONDO:0004652 True Klebsiella pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030604 MONDO:0004356 True cystic partially differentiated nephroblastoma childhood multilocular cystic kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030604 MONDO:0024676 True cystic partially differentiated nephroblastoma childhood kidney Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030606 MONDO:0031200 True Bryant-Li-Bhoj neurodevelopmental syndrome 1 Bryant-Li-Bhoj neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030607 MONDO:0031200 True Bryant-Li-Bhoj neurodevelopmental syndrome 2 Bryant-Li-Bhoj neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030608 MONDO:0031199 True interstitial lung disease 1 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030619 MONDO:0019200 True retinitis pigmentosa 92 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030625 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal recessive dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030634 MONDO:0030796 True leukoencephalopathy, hereditary diffuse, with spheroids 2 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030669 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 2 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030673 MONDO:0019064 True spastic paraplegia 86, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030674 MONDO:0030639 True Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030676 MONDO:0013150 True parkinsonism-dystonia 3, childhood-onset parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030677 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1I Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030679 MONDO:0018997 True Noonan syndrome 14 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030680 MONDO:0016333 True cardiomyopathy, dilated, 2F familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030684 MONDO:0018555 True hypogonadotropic hypogonadism 27 without anosmia hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030689 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, IIA 1H Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030690 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030692 MONDO:0021094 True immunodeficiency 95 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030693 MONDO:0021094 True immunodeficiency 96 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030695 MONDO:0100062 True developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030696 MONDO:0018158 True mitochondrial DNA depletion syndrome 20 (mngie type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030697 MONDO:0001384 True myopia 28, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030700 MONDO:0007179 True autoimmune glomerulonephritis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030701 MONDO:0000603 True autoimmune cardiomyopathy autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030702 MONDO:0000603 True autoimmune atherosclerosis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030703 MONDO:0000603 True autoimmune vasculitis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030711 MONDO:0019403 True Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030714 MONDO:0019019 True osteogenesis imperfecta, IIA 22 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030716 MONDO:0004983 True spermatogenic failure 66 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030717 MONDO:0021094 True immunodeficiency 97 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030718 MONDO:0004983 True spermatogenic failure 67 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030719 MONDO:0019587 True hearing loss, autosomal dominant 82 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030721 MONDO:0004983 True spermatogenic failure 68 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030723 MONDO:0019587 True hearing loss, autosomal dominant 83 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030724 MONDO:0019587 True hearing loss, autosomal dominant 84 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030726 MONDO:0018542 True neutropenia, severe congenital, 9, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030729 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 1 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030730 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 2 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030731 MONDO:0019625 True aortic aneurysm, familial thoracic 12 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030732 MONDO:0004983 True spermatogenic failure 69 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030733 MONDO:0004983 True spermatogenic failure 70 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030736 MONDO:0009299 True ovarian dysgenesis 10 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030746 MONDO:0017612 True epidermolysis bullosa, junctional 2A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030747 MONDO:0017612 True epidermolysis bullosa, junctional 2B, severe junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030748 MONDO:0017612 True epidermolysis bullosa, junctional 3A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030749 MONDO:0017612 True epidermolysis bullosa, junctional 3B, severe junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030750 MONDO:0017612 True epidermolysis bullosa, junctional 4, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030756 MONDO:0031280 True Stuve-Wiedemann syndrome 2 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030768 MONDO:0017612 True epidermolysis bullosa, junctional 5A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030770 MONDO:0031376 True congenital disorder of deglycosylation 2 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030787 MONDO:0004983 True spermatogenic failure 71 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030797 MONDO:0019200 True retinitis pigmentosa 93 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030798 MONDO:0021094 True immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030800 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 9 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030801 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 2 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030805 MONDO:0020380 True spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030809 MONDO:0004983 True spermatogenic failure 72 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030810 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 10 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030813 MONDO:0021094 True immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030815 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 11 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030818 MONDO:0004983 True spermatogenic failure 73 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030819 MONDO:0018921 True meckel syndrome 14 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030822 MONDO:0018470 True renal hypodysplasia/aplasia 4 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030827 MONDO:0031447 True macrothrombocytopenia, isolated, 2, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030839 MONDO:0031432 True thyroid hormone metabolism, abnormal, 2 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030840 MONDO:0031219 True mismatch repair cancer syndrome 2 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030841 MONDO:0031219 True mismatch repair cancer syndrome 3 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030843 MONDO:0031219 True mismatch repair cancer syndrome 4 mismatch repair cancer syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030844 MONDO:0004983 True spermatogenic failure 47 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030846 MONDO:0004983 True spermatogenic failure 48 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030847 MONDO:0019942 True arthrogryposis, distal, type 1C distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030854 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030855 MONDO:0016470 True combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos/osteogenesis imperfecta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030856 MONDO:0100062 True developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030858 MONDO:0021094 True immunodeficiency 75 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030861 MONDO:0019019 True osteogenesis imperfecta, type 21 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030864 MONDO:0019078 True Ritscher-Schinzel syndrome 3 Ritscher-Schinzel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030867 MONDO:0100241 True thrombocytopenia 7 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030868 MONDO:0004983 True spermatogenic failure 49 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030869 MONDO:0004983 True spermatogenic failures 50 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030870 MONDO:0019852 True premature ovarian failure 17 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030871 MONDO:0003847 True vertebral hypersegmentation and orofacial anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030872 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 8 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030875 MONDO:0005144 True frontotemporal dementia and/or amyotrophic lateral sclerosis 5 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030876 MONDO:0031386 True cardioacrofacial dysplasia 1 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030877 MONDO:0031386 True cardioacrofacial dysplasia 2 cardioacrofacial dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030881 MONDO:0100062 True developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030883 MONDO:0007275 True carpal tunnel syndrome 2 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030885 MONDO:0005144 True amyotrophic lateral sclerosis 26 with or without frontotemporal dementia familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030886 MONDO:0016296 True holoprosencephaly 14 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030887 MONDO:0016333 True cardiomyopathy, dilated, 2G familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030890 MONDO:0020135 True pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030891 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 66 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030894 MONDO:0000159 True AMED syndrome, digenic bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030895 MONDO:0002350 True nephrotic syndrome, type 22 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030898 MONDO:0021094 True immunodeficiency 76 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030899 MONDO:0018910 True oculocutaneous albinism type 8 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030902 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 36 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030903 MONDO:0019312 True Hermansky-Pudlak syndrome 11 Hermansky-Pudlak syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030905 MONDO:0019588 True hearing loss, autosomal recessive 117 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030906 MONDO:0002154 True Trichomonas tenax infectious disease trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030907 MONDO:0019181 True intellectual disability, X-linked 106 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030908 MONDO:0020119 True intellectual disability, X-linked, syndromic, 35 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030909 MONDO:0020119 True intellectual disability, X-linked, syndromic, Houge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030910 MONDO:0015802 True intellectual disability, autosomal dominant 45 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030911 MONDO:0015802 True intellectual disability, autosomal dominant 46 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030912 MONDO:0015159 True intellectual disability, autosomal dominant 47 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030912 MONDO:0015802 True intellectual disability, autosomal dominant 47 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030913 MONDO:0015159 True intellectual disability, autosomal dominant 48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030913 MONDO:0100172 True intellectual disability, autosomal dominant 48 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030914 MONDO:0015802 True Clark-Baraitser syndrome autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030915 MONDO:0019502 True intellectual disability, autosomal recessive 61 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030916 MONDO:0015802 True intellectual disability, autosomal dominant 50 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030917 MONDO:0015802 True intellectual disability, autosomal dominant 51 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030918 MONDO:0015802 True intellectual disability, autosomal dominant 52 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030919 MONDO:0015802 True intellectual disability, autosomal dominant 53 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030920 MONDO:0015802 True intellectual disability, autosomal dominant 54 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030921 MONDO:0015802 True intellectual disability, autosomal dominant 55, with seizures autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030922 MONDO:0015802 True intellectual disability, autosomal dominant 56 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0030924 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 5 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030925 MONDO:0014769 True oocyte maturation defect 10 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030926 MONDO:0004983 True spermatogenic failure 51 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030927 MONDO:0018943 True myofibrillar myopathy 11 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030931 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030933 MONDO:0018772 True Joubert syndrome 37 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030934 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 64 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030935 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 2 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030936 MONDO:0020074 True epilepsy, progressive myoclonic, 12 progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030937 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 3 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030938 MONDO:0004983 True spermatogenic failure 52 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030939 MONDO:0019852 True premature ovarian failure 18 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030941 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 7 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030953 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030957 MONDO:0100062 True developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030958 MONDO:0044807 True dystonia 35, childhood-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030961 MONDO:0031421 True Olmsted syndrome 2 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030962 MONDO:0002350 True nephrotic syndrome, type 23 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030964 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 67 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030968 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 76 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030969 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030970 MONDO:0021094 True immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030971 MONDO:0021094 True immunodeficiency 78 with autoimmunity and developmental delay immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030972 MONDO:0004983 True spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030973 MONDO:0021094 True immunodeficiency 77 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030974 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030975 MONDO:0019852 True premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030977 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030983 MONDO:0018094 True Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030984 MONDO:0004983 True spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030985 MONDO:0019852 True premature ovarian failure 19 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030993 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030996 MONDO:0000009 True bleeding disorder, platelet-type, 24 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030997 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 37 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030998 MONDO:0019587 True hearing loss, autosomal dominant 80 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031000 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031003 MONDO:0100327 True hypercholanemia, familial, 2 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031009 MONDO:0100326 True Glanzmann thrombasthenia 2 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031010 MONDO:0031169 True odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031012 MONDO:0000587 True autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031013 MONDO:0000590 True autoimmune optic neuritis autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031014 MONDO:0000588 True autoimmune gastritis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031019 MONDO:0019064 True spastic paraplegia 87, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031021 MONDO:0100062 True developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031028 MONDO:0100062 True developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031030 MONDO:0021094 True immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031031 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 77 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031040 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 12 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031043 MONDO:0019313 True lymphatic malformation 12 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0031044 MONDO:0015609 True advance sleep phase syndrome, familial, 4 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031045 MONDO:0019942 True arthrogryposis, distal, IIa 11 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031047 MONDO:0019354 True stickler syndrome, IIa 6 Stickler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031052 MONDO:0100062 True developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031054 MONDO:0016575 True ciliary dyskinesia, primary, 48, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031055 MONDO:0100062 True developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031057 MONDO:0015780 True dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031060 MONDO:0016660 True microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031061 MONDO:0002350 True nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031062 MONDO:0020642 True polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031068 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031071 MONDO:0015253 True Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031083 MONDO:0004983 True spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031084 MONDO:0019507 True amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031329 MONDO:0002254 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0031332 MONDO:0100326 True Glanzmann thrombasthenia 1 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031421 MONDO:0019272 True Olmsted syndrome hereditary palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031446 MONDO:0100327 True hypercholanemia, familial 1 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031481 MONDO:0100328 True microcephaly, epilepsy, and diabetes syndrome 1 microcephaly, epilepsy, and diabetes syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032526 MONDO:0020380 True spinocerebellar ataxia 48 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032564 MONDO:0016256 True hennekam lymphangiectasia-lymphedema syndrome 3 Hennekam syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032567 MONDO:0000050 True isolated growth hormone deficiency, type 4 isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032570 MONDO:0018772 True Joubert syndrome 35 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032573 MONDO:0000159 True bone marrow failure syndrome 5 bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032575 MONDO:0000824 True diarrhea 9 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032577 MONDO:0019200 True retinitis pigmentosa 83 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032578 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 9 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032580 MONDO:0002350 True nephrotic syndrome, type 17 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032581 MONDO:0002350 True nephrotic syndrome, type 18 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032582 MONDO:0002350 True nephrotic syndrome, type 19 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032583 MONDO:0016660 True microcephaly 24, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032584 MONDO:0019287 True ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032586 MONDO:0000824 True diarrhea 10, protein-losing enteropathy type congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032588 MONDO:0020341 True periventricular nodular heterotopia 8 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032590 MONDO:0009299 True ovarian dysgenesis 8 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032591 MONDO:0016166 True hyperparathyroidism, transient neonatal hereditary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032592 MONDO:0016333 True cardiomyopathy, dilated, 2c familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032596 MONDO:0018940 True myasthenic syndrome, congenital, 23, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032597 MONDO:0018940 True myasthenic syndrome, congenital, 24, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032598 MONDO:0100062 True developmental and epileptic encephalopathy, 68 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032599 MONDO:0021094 True immunodeficiency 15a immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032603 MONDO:0020927 True polydactyly, postaxial, type A9 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032604 MONDO:0019200 True retinitis pigmentosa 84 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032605 MONDO:0019502 True intellectual disability, autosomal recessive 66 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032606 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032607 MONDO:0003847 True vertebral anomalies and variable endocrine and T-cell dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032608 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032609 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032610 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032611 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032612 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032613 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032614 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 2 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032615 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032616 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032617 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032618 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032619 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032620 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032621 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032622 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032623 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032624 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032625 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032626 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032627 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032628 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032629 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032630 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032631 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032632 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032633 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032634 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032635 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032636 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032637 MONDO:0016575 True ciliary dyskinesia, primary, 39 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032639 MONDO:0019588 True hearing loss, autosomal recessive 112 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032641 MONDO:0016558 True mirror movements 4 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032643 MONDO:0020135 True pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032644 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 3 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032646 MONDO:0019719 True congenital anomalies of kidney and urinary tract 3 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032648 MONDO:0003847 True mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032649 MONDO:0003037 True hypotrichosis 14 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032654 MONDO:0018037 True hyper-IgE recurrent infection syndrome 3, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032655 MONDO:0003847 True visual impairment and progressive phthisis bulbi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032657 MONDO:0100062 True developmental and epileptic encephalopathy, 69 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032660 MONDO:0018190 True spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032662 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 67 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032663 MONDO:0100062 True developmental and epileptic encephalopathy, 70 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032664 MONDO:0016575 True ciliary dyskinesia, primary, 40 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032665 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 68 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032666 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 4 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032667 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 5 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032668 MONDO:0015253 True Diamond-Blackfan anemia 18 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032669 MONDO:0015253 True Diamond-Blackfan anemia 19 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032670 MONDO:0015253 True Diamond-Blackfan anemia 20 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032673 MONDO:0008947 True basal ganglia calcification, idiopathic, 7, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032675 MONDO:0018940 True myasthenic syndrome, congenital, 25, presynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032678 MONDO:0100062 True developmental and epileptic encephalopathy, 71 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032679 MONDO:0000732 True combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032686 MONDO:0004983 True spermatogenic failure 35 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032687 MONDO:0003847 True intellectual developmental disorder with abnormal behavior, microcephaly, and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032689 MONDO:0019200 True retinitis pigmentosa 85 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032691 MONDO:0009627 True Galloway-Mowat syndrome 6 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032692 MONDO:0009627 True Galloway-Mowat syndrome 7 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032693 MONDO:0009627 True Galloway-Mowat syndrome 8 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032694 MONDO:0016660 True microcephaly 25, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032696 MONDO:0014769 True oocyte maturation defect 6 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032702 MONDO:0015452 True Coffin-Siris syndrome 8 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032705 MONDO:0017313 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032705 MONDO:0019046 True neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0032706 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 27 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032710 MONDO:0100062 True developmental and epileptic encephalopathy, 72 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032712 MONDO:0000732 True combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032715 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 69 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032717 MONDO:0019507 True amelogenesis imperfecta, type 3c amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032721 MONDO:0016761 True spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032723 MONDO:0021094 True immunodeficiency 60 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032724 MONDO:0006025 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032724 MONDO:0019675 True spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032725 MONDO:0100062 True developmental and epileptic encephalopathy, 74 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032726 MONDO:0000732 True combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032728 MONDO:0018993 True Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032729 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 70 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032730 MONDO:0019046 True leukodystrophy, hypomyelinating, 18 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032732 MONDO:0019588 True hearing loss, autosomal recessive 113 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032735 MONDO:0005129 True cataract 48 cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032737 MONDO:0019064 True spastic paraplegia 80, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0032739 MONDO:0004983 True spermatogenic failure 36 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032740 MONDO:0019588 True hearing loss, autosomal recessive 100 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032744 MONDO:0004983 True spermatogenic failure 37 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032746 MONDO:0006248 True hydatidiform mole, recurrent, 3 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032747 MONDO:0006248 True hydatidiform mole, recurrent, 4 hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032748 MONDO:0004983 True spermatogenic failure 38 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032749 MONDO:0019588 True hearing loss, autosomal recessive 94 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032750 MONDO:0000426 True arthrogryposis, distal, type 2B2 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032750 MONDO:0011128 True arthrogryposis, distal, type 2B2 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032751 MONDO:0000426 True arthrogryposis, distal, type 2B3 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032751 MONDO:0011128 True arthrogryposis, distal, type 2B3 Sheldon-hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032752 MONDO:0100062 True developmental and epileptic encephalopathy, 75 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032753 MONDO:0017845 True spastic ataxia 9, autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032756 MONDO:0019171 True long qt syndrome 8 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032757 MONDO:0016575 True ciliary dyskinesia, primary, 41 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032761 MONDO:0019588 True hearing loss, autosomal recessive 114 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032762 MONDO:0019588 True hearing loss, autosomal recessive 115 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032763 MONDO:0021094 True immunodeficiency 62 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032765 MONDO:0000009 True bleeding disorder, platelet-type, 22 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032766 MONDO:0003847 True hypoalphalipoproteinemia, primary, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032767 MONDO:0000448 True paragangliomas 6 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032768 MONDO:0100062 True developmental and epileptic encephalopathy, 76 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032771 MONDO:0000448 True paragangliomas 7 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032776 MONDO:0019588 True hearing loss, autosomal recessive 99 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032777 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032778 MONDO:0015168 True arthrogryposis multiplex congenita 3, myogenic type arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032782 MONDO:0021094 True immunodeficiency 63 with lymphoproliferation and autoimmunity immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032783 MONDO:0007194 True aortic valve disease 3 familial bicuspid aortic valve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032785 MONDO:0020927 True polydactyly, postaxial, type a10 postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032786 MONDO:0018997 True Noonan syndrome 11 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032787 MONDO:0016296 True holoprosencephaly 12 with or without pancreatic agenesis holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032789 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 71 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032791 MONDO:0015452 True Coffin-Siris syndrome 10 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032797 MONDO:0019952 True myopathy, congenital, with tremor congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032799 MONDO:0018158 True mitochondrial DNA depletion syndrome 16 (hepatic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032800 MONDO:0019978 True robinow syndrome, autosomal recessive 2 Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032802 MONDO:0019587 True hearing loss, autosomal dominant 37 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032803 MONDO:0021094 True immunodeficiency 64 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032804 MONDO:0019287 True ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032806 MONDO:0018053 True trichothiodystrophy 7, nonphotosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032808 MONDO:0002525 True developmental and epileptic encephalopathy, 77 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032808 MONDO:0100062 True developmental and epileptic encephalopathy, 77 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0032808 MONDO:0100247 True developmental and epileptic encephalopathy, 77 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032810 MONDO:0014769 True oocyte maturation defect 7 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032811 MONDO:0016293 True night blindness, congenital stationary, type1i congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032812 MONDO:0100062 True developmental and epileptic encephalopathy, 78 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032813 MONDO:0100062 True developmental and epileptic encephalopathy, 79 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032815 MONDO:0018158 True mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032819 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 7 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032819 MONDO:0016410 True hypothyroidism, congenital, nongoitrous, 7 central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032821 MONDO:0019952 True myopathy, congenital, progressive, with scoliosis congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032822 MONDO:0100062 True developmental and epileptic encephalopathy, 80 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032826 MONDO:0002350 True nephrotic syndrome, type 21 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032831 MONDO:0020135 True pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032834 MONDO:0019200 True retinitis pigmentosa 86 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032835 MONDO:0016761 True spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032837 MONDO:0000816 True abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032839 MONDO:0018997 True noonan syndrome 12 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032842 MONDO:0003847 True Siddiqi syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032844 MONDO:0000023 True infantile liver failure syndrome 3 infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032845 MONDO:0004983 True spermatogenic failure 39 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032846 MONDO:0019019 True osteogenesis imperfecta, type 20 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032848 MONDO:0021094 True immunodeficiency 65, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032850 MONDO:0003847 True neurooculocardiogenitourinary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032852 MONDO:0019952 True myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032854 MONDO:0000200 True zimmermann-laband syndrome 3 Zimmermann-Laband syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032857 MONDO:0000824 True diarrhea 11, malabsorptive, congenital congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032858 MONDO:0100062 True developmental and epileptic encephalopathy, 81 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032859 MONDO:0004983 True spermatogenic failure 40 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032860 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 72 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032863 MONDO:0004983 True spermatogenic failure 41 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032865 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032866 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 10 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032869 MONDO:0014471 True mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032870 MONDO:0003847 True intellectual developmental disorder with short stature and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032871 MONDO:0019046 True leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032872 MONDO:0016575 True ciliary dyskinesia, primary, 42 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032873 MONDO:0019200 True retinitis pigmentosa 87 with choroidal involvement retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032874 MONDO:0016575 True ciliary dyskinesia, primary, 43 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032879 MONDO:0003847 True megabladder, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032880 MONDO:0100062 True developmental and epileptic encephalopathy, 82 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032881 MONDO:0019852 True premature ovarian failure 16 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032902 MONDO:0018772 True Joubert syndrome 36 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032905 MONDO:0019064 True spastic paraplegia 81, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032906 MONDO:0019064 True spastic paraplegia 82, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032907 MONDO:0019313 True lymphatic malformation 8 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032909 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 10 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032910 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032911 MONDO:0019587 True hearing loss, autosomal dominant 75 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032912 MONDO:0015452 True Coffin-Siris syndrome 11 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032914 MONDO:0016575 True ciliary dyskinesia, primary, 44 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032915 MONDO:0017990 True long QT syndrome 16 catecholaminergic polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032915 MONDO:0019171 True long QT syndrome 16 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032917 MONDO:0019587 True hearing loss, autosomal dominant 76 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032918 MONDO:0100062 True developmental and epileptic encephalopathy, 84 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032923 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 28 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032924 MONDO:0016575 True ciliary dyskinesia, primary, 45 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032926 MONDO:0003847 True sandestig-stefanova syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0032932 MONDO:0018158 True mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032936 MONDO:0019952 True myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032937 MONDO:0019952 True myopathy, congenital proximal, with minicore lesions congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032938 MONDO:0008947 True basal ganglia calcification, idiopathic, 8, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032940 MONDO:0019200 True retinitis pigmentosa 88 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032941 MONDO:0001384 True myopia 27 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033004 MONDO:0009889 True polycystic kidney disease 4 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033005 MONDO:0009627 True Galloway-Mowat syndrome 1 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033006 MONDO:0009627 True Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033007 MONDO:0009627 True Galloway-Mowat syndrome 3 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033008 MONDO:0009627 True Galloway-Mowat syndrome 4 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033009 MONDO:0009627 True Galloway-Mowat syndrome 5 Galloway-Mowat syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033010 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033012 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033013 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033014 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033015 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033043 MONDO:0017847 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033043 MONDO:0019046 True spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0033044 MONDO:0018921 True Meckel syndrome 13 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033045 MONDO:0015375 True orofaciodigital syndrome 16 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033046 MONDO:0016817 True Meier-Gorlin syndrome 8 Meier-Gorlin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033047 MONDO:0017312 True Perrault syndrome 6 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033091 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 14 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033092 MONDO:0017265 True ichthyosis, congenital, autosomal recessive 13 autosomal recessive congenital ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033115 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 25 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033116 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 26 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033123 MONDO:0019516 True exudative vitreoretinopathy 7 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033135 MONDO:0000426 True Charcot-Marie-Tooth disease, demyelinating, type 1G autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033135 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1G Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033198 MONDO:0019588 True hearing loss, autosomal recessive 106 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033199 MONDO:0019588 True hearing loss, autosomal recessive 107 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033200 MONDO:0019588 True hearing loss, autosomal recessive 108 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033201 MONDO:0019588 True hearing loss, autosomal recessive 57 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033202 MONDO:0019588 True hearing loss, autosomal recessive 109 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033203 MONDO:0002350 True nephrotic syndrome 14 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033203 MONDO:0018117 True nephrotic syndrome 14 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033204 MONDO:0016575 True ciliary dyskinesia, primary, 37 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033258 MONDO:0019587 True hearing loss, autosomal dominant 71 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033259 MONDO:0019587 True hearing loss, autosomal dominant 72 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033260 MONDO:0019587 True hearing loss, autosomal dominant 73 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033261 MONDO:0019587 True hearing loss, autosomal dominant 34, with or without inflammation autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033262 MONDO:0002350 True nephrotic syndrome 15 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033280 MONDO:0002350 True nephrotic syndrome 16 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033281 MONDO:0009889 True polycystic kidney disease 5 autosomal recessive polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033282 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 5 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033304 MONDO:0000428 True nonsyndromic deafness, Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033304 MONDO:0019497 True nonsyndromic deafness, Y-linked nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033308 MONDO:0018772 True Joubert syndrome 30 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033309 MONDO:0018772 True Joubert syndrome 32 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033310 MONDO:0018772 True Joubert syndrome 31 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033311 MONDO:0018772 True Joubert syndrome 33 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033312 MONDO:0005090 True schizophrenia 19 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0033361 MONDO:0100062 True developmental and epileptic encephalopathy, 52 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033362 MONDO:0100062 True developmental and epileptic encephalopathy, 53 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033363 MONDO:0100062 True developmental and epileptic encephalopathy, 54 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033364 MONDO:0100062 True developmental and epileptic encephalopathy, 55 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033365 MONDO:0100062 True developmental and epileptic encephalopathy, 56 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033366 MONDO:0100062 True developmental and epileptic encephalopathy, 57 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033367 MONDO:0100062 True developmental and epileptic encephalopathy, 58 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033368 MONDO:0100062 True developmental and epileptic encephalopathy, 59 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033369 MONDO:0100062 True developmental and epileptic encephalopathy, 60 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033370 MONDO:0100062 True developmental and epileptic encephalopathy, 61 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033371 MONDO:0100062 True developmental and epileptic encephalopathy, 62 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033372 MONDO:0100062 True developmental and epileptic encephalopathy, 63 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033373 MONDO:0100062 True developmental and epileptic encephalopathy, 64 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033374 MONDO:0100062 True developmental and epileptic encephalopathy, 65 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033375 MONDO:0015375 True orofaciodigital syndrome 17 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033479 MONDO:0020380 True spinocerebellar ataxia 44 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033480 MONDO:0019793 True spinocerebellar ataxia 45 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033481 MONDO:0019792 True spinocerebellar ataxia 46 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033482 MONDO:0020380 True spinocerebellar ataxia 47 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033483 MONDO:0001115 True erythrocytosis, familial, 5 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033485 MONDO:0018770 True short-rib thoracic dysplasia 19 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033486 MONDO:0019046 True leukodystrophy, hypomyelinating, 14 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033492 MONDO:0015802 True Coffin-Siris syndrome 6 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033493 MONDO:0016070 True fibromatosis, gingival, 5 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033533 MONDO:0000732 True combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033534 MONDO:0000732 True combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033537 MONDO:0000732 True combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033541 MONDO:0021094 True immunodeficiency 69 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033542 MONDO:0021094 True immunodeficiency 70 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033545 MONDO:0018158 True mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033548 MONDO:0019952 True myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033549 MONDO:0043878 True optic atrophy 12 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033551 MONDO:0021094 True immunodeficiency 72 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033556 MONDO:0000172 True muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 muscular dystrophy-dystroglycanopathy, type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033560 MONDO:0003847 True mitochondrial complex 1 deficiency, nuclear type 35 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033563 MONDO:0019200 True retinitis pigmentosa 90 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033564 MONDO:0014769 True oocyte maturation defect 8 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033565 MONDO:0014769 True oocyte maturation defect 9 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033566 MONDO:0000732 True combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033569 MONDO:0003847 True combined oxidative phosphorylation deficiency 49 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033570 MONDO:0003847 True combined oxidative phosphorylation deficiency 50 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0033614 MONDO:0019064 True spastic paraplegia 83, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033615 MONDO:0018151 True coenzyme q10 deficiency, primary, 9 coenzyme Q10 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033620 MONDO:0018943 True myofibrillar myopathy 10 myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033622 MONDO:0004983 True spermatogenic failure 44 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033631 MONDO:0000732 True combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033635 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 3 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033636 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 4 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033637 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 7 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033638 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 8 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033639 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 10 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033643 MONDO:0005265 True inflammatory bowel disease 30 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033645 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 11 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033646 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 12 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033649 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 14 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033650 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 15 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033651 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 16 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033652 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 17 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033653 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 18 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033654 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 19 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033655 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 20 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033656 MONDO:0033885 True mitochondrial complex 4 deficiency, nuclear type 21 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0033657 MONDO:0019046 True leukodystrophy, hypomyelinating, 20 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033665 MONDO:0019587 True hearing loss, autosomal dominant 78 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033668 MONDO:0019587 True hearing loss, autosomal dominant 79 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033669 MONDO:0018997 True Noonan syndrome 13 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033670 MONDO:0019588 True hearing loss, autosomal recessive 116 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033671 MONDO:0004983 True spermatogenic failure 45 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033673 MONDO:0004983 True spermatogenic failure 46 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033682 MONDO:0015159 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0015708 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033682 MONDO:0019694 True skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome spondylodysplastic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0015159 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0015708 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome immuno-osseous dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0018234 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0019054 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033683 MONDO:0019453 True congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033717 MONDO:0020043 True congenital cerebellar ataxia due to RNU12 mutation autosomal recessive congenital cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033810 MONDO:0019503 True isolated iridoschisis anterior segment dysgenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033821 MONDO:0023865 True fungal keratitis corneal infection UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033838 MONDO:0015923 True radiation-induced plexopathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033838 MONDO:0043459 True radiation-induced plexopathy radiation-induced disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033850 MONDO:0017762 True autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect disorder of copper metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033862 MONDO:0019787 True primary autoimmune enteropathy autoimmune enteropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033946 MONDO:0019623 True hereditary angioedema with C1Inh deficiency hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0033946 MONDO:0027749 True hereditary angioedema with C1Inh deficiency serpinopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033948 MONDO:0019624 True acquired angioedema with C1Inh deficiency acquired angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0005570 True monoclonal mast cell activation syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033968 MONDO:0003778 True immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033969 MONDO:0003778 True inflammatory bowel disease-recurrent sinopulmonary infections syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033980 MONDO:0003266 True RELA fusion-positive ependymoma ependymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034021 MONDO:0020066 True spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034022 MONDO:0008029 True Bethlem myopathy 2 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034092 MONDO:0020127 True optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034099 MONDO:0020071 True SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034103 MONDO:0001549 True infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034106 MONDO:0015159 True developmental and epileptic encephalopathy, 73 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034106 MONDO:0100062 True developmental and epileptic encephalopathy, 73 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0034109 MONDO:0006025 True congenital myopathy with reduced type 2 muscle fibers autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0034109 MONDO:0019952 True congenital myopathy with reduced type 2 muscle fibers congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0034121 MONDO:0014960 True NAD(P)HX dehydratase deficiency encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034121 MONDO:0019052 True NAD(P)HX dehydratase deficiency inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034127 MONDO:0019337 True IgA pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0034142 MONDO:0015159 True pancreatic agenesis-holoprosencephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034143 MONDO:0017198 True early-onset calcifying leukoencephalopathy-skeletal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034143 MONDO:0019046 True early-onset calcifying leukoencephalopathy-skeletal dysplasia leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034145 MONDO:0005308 True oculocerebrodental syndrome ciliopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034145 MONDO:0015159 True oculocerebrodental syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034146 MONDO:0017847 True spastic ataxia-dysarthria due to glutaminase deficiency autosomal recessive spastic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034186 MONDO:0019222 True autosomal recessive extra-oral halitosis inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034976 MONDO:0018686 True iatrogenic Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035004 MONDO:0018162 True serine biosynthesis pathway deficiency, infantile/juvenile form neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035112 MONDO:0018874 True acute myeloid leukemia with BCR-ABL1 acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0035117 MONDO:0015653 True PUM1-associated developmental disability-ataxia-seizure syndrome monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035117 MONDO:0019792 True PUM1-associated developmental disability-ataxia-seizure syndrome autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035121 MONDO:0015688 True myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035124 MONDO:0019287 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035124 MONDO:0019290 True linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035133 MONDO:0015159 True PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035151 MONDO:0016915 True 17q24.2 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035153 MONDO:0005372 True male infertility due to acephalic spermatozoa male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0035173 MONDO:0016874 True 9q21.13 microdeletion syndrome partial deletion of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035220 MONDO:0019623 True PLG-related hereditary angioedema with normal C1inh hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035235 MONDO:0018824 True classic pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035236 MONDO:0018824 True pustular pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035237 MONDO:0018824 True bullous pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035238 MONDO:0018824 True vegetative pyoderma gangrenosum pyoderma gangrenosum UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035290 MONDO:0016244 True atypical hemolytic uremic syndrome with complement gene abnormality atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035293 MONDO:0034103 True streptococcus pneumoniae-associated hemolytic uremic syndrome infection-related hemolytic uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035295 MONDO:0018960 True congenital primary megaureter, refluxing and obstructed form congenital primary megaureter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035320 MONDO:0018541 True early-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035321 MONDO:0018541 True late-onset familial hypoaldosteronism familial hypoaldosteronism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035349 MONDO:0006543 True localized dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035400 MONDO:0016264 True seronegative autoimmune hepatitis autoimmune hepatitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035403 MONDO:0016092 True serous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035404 MONDO:0016092 True mucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035405 MONDO:0016092 True seromucinous cystadenoma of childhood serous or mucinous cystadenoma of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035406 MONDO:0018941 True furuncular myiasis due to Dermatobia hominis furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035407 MONDO:0018941 True furuncular myiasis due to Cordylobia anthropophaga furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035408 MONDO:0018941 True furuncular myiasis due to Cordylobia rodhaini furuncular myiasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035410 MONDO:0013003 True isolated congenital aglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035411 MONDO:0013003 True isolated congenital hypoglossia isolated congenital hypoglossia/aglossia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035423 MONDO:0015611 True triglyceride deposit cardiomyovasculopathy neutral lipid storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035432 MONDO:0016971 True POMGNT2-related limb-girdle muscular dystrophy R24 limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035433 MONDO:0016971 True calpain-3-related limb-girdle muscular dystrophy D4 limb-girdle muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035437 MONDO:0019751 True CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035444 MONDO:0007950 True acute mast cell leukemia mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035445 MONDO:0007950 True chronic mast cell leukemia mastocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035459 MONDO:0018170 True idiopathic multidrug-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035460 MONDO:0018170 True idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy idiopathic nephrotic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035472 MONDO:0019175 True GJC2-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035473 MONDO:0019175 True warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035474 MONDO:0019175 True PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035475 MONDO:0019175 True EPHB4-related lymphatic-related hydrops fetalis primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035499 MONDO:0019175 True CELSR1-related late-onset primary lymphedema primary lymphedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035521 MONDO:0016868 True blepharophimosis-ptosis-epicanthus inversus syndrome plus partial deletion of chromosome 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035524 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035525 MONDO:0007201 True blepharophimosis-ptosis-epicanthus inversus syndrome type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035540 MONDO:0021227 True pheochromocytoma-paraganglioma adrenal gland neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035562 MONDO:0018926 True acquired human prion disease human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035605 MONDO:0003538 True B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality precursor lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035614 MONDO:0018926 True sporadic fatal insomnia human prion disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035639 MONDO:0020743 True mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) mixed phenotype acute leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035642 MONDO:0020743 True mixed phenotype acute leukemia with t(v;11q23.3) mixed phenotype acute leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035646 MONDO:0008056 True congenital-onset Steinert myotonic dystrophy myotonic dystrophy type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035647 MONDO:0016107 True childhood-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035648 MONDO:0016107 True juvenile-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035649 MONDO:0016107 True adult-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035650 MONDO:0016107 True late-onset Steinert myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035663 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035664 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035665 MONDO:0019100 True neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035666 MONDO:0015342 True acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035667 MONDO:0044688 True isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035668 MONDO:0044688 True isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035669 MONDO:0019383 True acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035670 MONDO:0019383 True acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035694 MONDO:0015131 True combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035696 MONDO:0035357 True incomplete septal cirrhosis portosinusoidal vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035734 MONDO:0019623 True hereditary angioedema with normal C1inh not related to F12 or PLG variant hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035782 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, bulbar type anorectal malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035783 MONDO:0019938 True non-syndromic anorectal malformation with rectourethral fistula, prostatic type anorectal malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035838 MONDO:0015564 True idiopathic multicentric Castleman disease Castleman disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035892 MONDO:0020129 True Mills syndrome acquired motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035930 MONDO:0000179 True neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035940 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035941 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035942 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035943 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035944 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035945 MONDO:0035605 True B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036042 MONDO:0015159 True KAT6B-related multiple congenital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036217 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036218 MONDO:0032931 True lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036482 MONDO:0019200 True retinitis pigmentosa 81 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0036483 MONDO:0018770 True short-rib thoracic dysplasia 18 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0036484 MONDO:0018778 True Charcot-Marie-Tooth disease, dominant intermediate G intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0036501 MONDO:0004992 True refractory malignant neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036511 MONDO:0002367 True childhood malignant kidney neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036511 MONDO:0002730 True childhood malignant kidney neoplasm childhood kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036511 MONDO:0006517 True childhood malignant kidney neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036591 MONDO:0021227 True adrenal cortex neoplasm adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036595 MONDO:0020807 True ovarian Sertoli-Leydig cell tumor ovarian sertoli-stromal cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036688 MONDO:0003061 True rhabdomyoma benign muscle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036696 MONDO:0002332 True spleen neoplasm splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036696 MONDO:0002334 True spleen neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036779 MONDO:0021350 True axillary neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036781 MONDO:0000634 True benign axillary neoplasm thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036781 MONDO:0036779 True benign axillary neoplasm axillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036870 MONDO:0005385 True lymphatic vessel neoplasm vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036870 MONDO:0024296 True lymphatic vessel neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036915 MONDO:0000646 True benign ovarian mucinous tumor ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036915 MONDO:0003756 True benign ovarian mucinous tumor ovarian mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036915 MONDO:0036976 True benign ovarian mucinous tumor benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036918 MONDO:0019268 True punctate acrokeratoderma freckle-like pigmentation epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036976 MONDO:0005165 True benign epithelial neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036976 MONDO:0005626 True benign epithelial neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036990 MONDO:0006266 True benign Leydig cell tumor Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037002 MONDO:0005078 True benign phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037002 MONDO:0005165 True benign phyllodes tumor benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037003 MONDO:0005078 True malignant phyllodes tumor phyllodes tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037003 MONDO:0005853 True malignant phyllodes tumor malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037105 MONDO:0018201 True lung germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037105 MONDO:0021117 True lung germ cell tumor lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037149 MONDO:0010327 True HSD10 disease, atypical type HSD10 mitochondrial disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037250 MONDO:0021079 True childhood testicular neoplasm childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037250 MONDO:0021348 True childhood testicular neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037252 MONDO:0006055 True thecoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037253 MONDO:0021657 True ovarian thecoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037253 MONDO:0037252 True ovarian thecoma thecoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037254 MONDO:0005626 True transitional cell neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037255 MONDO:0002229 True ovarian serous tumor ovarian epithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037255 MONDO:0037256 True ovarian serous tumor serous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037256 MONDO:0024276 True serous neoplasm glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037735 MONDO:0002898 True sebaceous gland cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037735 MONDO:0006963 True sebaceous gland cancer sebaceous gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037736 MONDO:0021211 True infratentorial neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037737 MONDO:0006901 True peritoneal solitary fibrous tumor peritoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037737 MONDO:0016238 True peritoneal solitary fibrous tumor solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037740 MONDO:0002714 True malignant central nervous system mesenchymal, non-meningothelial neoplasm central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037740 MONDO:0003244 True malignant central nervous system mesenchymal, non-meningothelial neoplasm central nervous system mesenchymal non-meningothelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037740 MONDO:0024637 True malignant central nervous system mesenchymal, non-meningothelial neoplasm malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037743 MONDO:0003512 True mediastinal soft tissue cancer mediastinal mesenchymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037743 MONDO:0005843 True mediastinal soft tissue cancer mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037743 MONDO:0024637 True mediastinal soft tissue cancer malignant soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037745 MONDO:0006424 True fibromyxoid tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037746 MONDO:0001402 True malignant vaginal mixed epithelial and mesenchymal neoplasm vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037746 MONDO:0005853 True malignant vaginal mixed epithelial and mesenchymal neoplasm malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040500 MONDO:0019502 True glycosylphosphatidylinositol biosynthesis defect 16 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0040501 MONDO:0020066 True ehlers-danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0040502 MONDO:0008733 True glucocorticoid deficiency 5 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0040503 MONDO:0007339 True blepharocheilodontic syndrome 2 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0040673 MONDO:0002087 True malignant peritoneal germ cell tumor peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040673 MONDO:0003113 True malignant peritoneal germ cell tumor extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040675 MONDO:0006209 True myofibroblastoma fibroblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040677 MONDO:0004993 True invasive carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040678 MONDO:0006295 True infiltrating urothelial carcinoma malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040678 MONDO:0024337 True infiltrating urothelial carcinoma urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040678 MONDO:0040677 True infiltrating urothelial carcinoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040679 MONDO:0006295 True urothelial carcinoma malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040679 MONDO:0006474 True urothelial carcinoma transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040679 MONDO:0024337 True urothelial carcinoma urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0041447 MONDO:0024880 True metastatic malignant neoplasm in the colon metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042486 MONDO:0011023 True polyposis syndrome, hereditary mixed, 1 hereditary mixed polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0042487 MONDO:0004710 True uterine cervix carcinoma in situ uterus carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0042487 MONDO:0005131 True uterine cervix carcinoma in situ cervical carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0042491 MONDO:0021230 True cervical squamous intraepithelial neoplasia uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042491 MONDO:0022394 True cervical squamous intraepithelial neoplasia cervical intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042491 MONDO:0024475 True cervical squamous intraepithelial neoplasia squamous cell intraepithelial neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042493 MONDO:0001059 True gastric non-hodgkin lymphoma gastric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042493 MONDO:0018908 True gastric non-hodgkin lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042494 MONDO:0005105 True childhood malignant melanoma melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042494 MONDO:0006517 True childhood malignant melanoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042499 MONDO:0017615 True benign familial neonatal-infantile seizures 1 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0042727 MONDO:0002601 True sacrococcygeal teratoma teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042981 MONDO:0003803 True aortic valve stenosis aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0043143 MONDO:0015168 True microphthalmia microtia fetal akinesia arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0016073 True microphthalmia microtia fetal akinesia syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043143 MONDO:0043009 True microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043317 MONDO:0016367 True amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044200 MONDO:0015974 True T-B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044201 MONDO:0015974 True T+ B+ severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044202 MONDO:0015427 True episodic kinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044204 MONDO:0009833 True Shwachman-Diamond syndrome 1 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044205 MONDO:0009833 True Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044206 MONDO:0008975 True otospondylomegaepiphyseal dysplasia, autosomal recessive otospondylomegaepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044207 MONDO:0009506 True specific granule deficiency 1 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044208 MONDO:0009506 True specific granule deficiency 2 specific granule deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044211 MONDO:0005492 True idiopathic urticaria urticaria SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044299 MONDO:0018940 True myasthenic syndrome, congenital, 22 congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044300 MONDO:0016362 True familial adenomatous polyposis 4 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044300 MONDO:0021055 True familial adenomatous polyposis 4 classic familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044302 MONDO:0003847 True congenital heart defects, dysmorphic facial features, and intellectual developmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044305 MONDO:0019287 True ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044306 MONDO:0015653 True neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044308 MONDO:0015229 True bardet-biedl syndrome 21 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044309 MONDO:0015253 True Diamond-Blackfan anemia 16 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044310 MONDO:0015253 True Diamond-Blackfan anemia 17 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044311 MONDO:0003847 True brachycephaly, trichomegaly, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044313 MONDO:0019502 True intellectual disability, autosomal recessive 60 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044314 MONDO:0019200 True retinitis pigmentosa 78 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044317 MONDO:0019852 True premature ovarian failure 13 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044319 MONDO:0015159 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044319 MONDO:0015653 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044320 MONDO:0019200 True retinitis pigmentosa 79 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044325 MONDO:0019391 True Fanconi anemia, complementation group W Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044327 MONDO:0000447 True polycystic liver disease 4 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044328 MONDO:0018770 True short-rib thoracic dysplasia 20 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044332 MONDO:0015548 True childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044334 MONDO:0005070 True connective and soft tissue neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044335 MONDO:0000654 True benign soft tissue neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044335 MONDO:0006424 True benign soft tissue neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044336 MONDO:0005008 True colorectal signet ring cell carcinoma colorectal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044336 MONDO:0005092 True colorectal signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044337 MONDO:0018078 True stromal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044406 MONDO:0019287 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044406 MONDO:0019942 True arthrogryposis-ectodermal dysplasia-other anomalies syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044619 MONDO:0016677 True propylthiouracil embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044621 MONDO:0015159 True 16p12.1p12.3 triplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044621 MONDO:0016949 True 16p12.1p12.3 triplication syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044622 MONDO:0020127 True EMILIN-1-related connective tissue disease hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044625 MONDO:0018993 True autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044628 MONDO:0016643 True six2-related frontonasal dysplasia frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044629 MONDO:0015225 True congenital amyoplasia arthrogryposis syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044633 MONDO:0002429 True idiopathic pleuroparenchymal fibroelastosis idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044634 MONDO:0002254 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044634 MONDO:0003847 True retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044635 MONDO:0018795 True DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044637 MONDO:0015990 True infantile-onset generalized dyskinesia with orofacial involvement focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044638 MONDO:0000536 True hypopharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044638 MONDO:0005216 True hypopharynx squamous cell carcinoma hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044641 MONDO:0015159 True 9q33.3q34.11 microdeletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044641 MONDO:0016908 True 9q33.3q34.11 microdeletion syndrome partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044642 MONDO:0019046 True c11orf73-related autosomal recessive hypomyelinating leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044643 MONDO:0015159 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044643 MONDO:0020022 True congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044645 MONDO:0018881 True familial monosomy 7 syndrome myelodysplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0044646 MONDO:0015159 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044646 MONDO:0024237 True early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044647 MONDO:0018943 True kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044648 MONDO:0015150 True kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044649 MONDO:0018234 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044649 MONDO:0019054 True omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0015363 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0018307 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044651 MONDO:0020046 True early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044656 MONDO:0017266 True epidermolytic nevus keratinopathic ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044657 MONDO:0018993 True MME-related autosomal dominant Charcot Marie Tooth disease type 2 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044663 MONDO:0019268 True aquagenic palmoplantar keratoderma epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044675 MONDO:0018230 True LRP5-related primary osteoporosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044682 MONDO:0015168 True MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044687 MONDO:0044685 True chronic relapsing inflammatory optic neuropathy autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044688 MONDO:0044685 True isolated optic neuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044689 MONDO:0044685 True recurrent idiopathic neuroretinitis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044690 MONDO:0044685 True optic perineuritis autoimmune/inflammatory optic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044696 MONDO:0015159 True early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044699 MONDO:0015159 True SIN3A-related intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044700 MONDO:0044699 True SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0018751 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0019755 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044702 MONDO:0020768 True X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044704 MONDO:0000536 True oropharynx squamous cell carcinoma pharyngeal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044704 MONDO:0044926 True oropharynx squamous cell carcinoma oropharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044705 MONDO:0000380 True paranasal sinus squamous cell carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044705 MONDO:0010150 True paranasal sinus squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044709 MONDO:0015604 True cochleovestibular dysplasia middle ear anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044710 MONDO:0010150 True lip and oral cavity squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044710 MONDO:0023644 True lip and oral cavity squamous cell carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044714 MONDO:0009637 True mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044717 MONDO:0016903 True 4q25 proximal deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044718 MONDO:0019046 True alkaline ceramidase 3 deficiency leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0044719 MONDO:0017396 True erythema multiforme major toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044720 MONDO:0020047 True cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044721 MONDO:0044200 True severe combined immunodeficiency due to LAT deficiency T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044723 MONDO:0017359 True 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044724 MONDO:0017359 True 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044725 MONDO:0021094 True combined immunodeficiency due to GINS1 deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0015962 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0017764 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome disorder of zinc metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044726 MONDO:0024237 True psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044727 MONDO:0005192 True pancreatic carcinoma with mixed differentiation exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044727 MONDO:0006182 True pancreatic carcinoma with mixed differentiation digestive system mixed adenoneuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0015150 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0018117 True autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044738 MONDO:0015159 True Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044739 MONDO:0019810 True Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044740 MONDO:0000521 True salivary gland squamous cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044740 MONDO:0017167 True salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044743 MONDO:0004669 True major salivary gland cancer salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044743 MONDO:0021368 True major salivary gland cancer neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044764 MONDO:0016717 True benign choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044764 MONDO:0021451 True benign choroid plexus neoplasm benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044767 MONDO:0004974 True childhood adrenal gland pheochromocytoma adrenal gland pheochromocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044767 MONDO:0021079 True childhood adrenal gland pheochromocytoma childhood neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044768 MONDO:0001608 True vagus nerve paraganglioma vagus nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044768 MONDO:0006239 True vagus nerve paraganglioma head and neck paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044776 MONDO:0019852 True premature ovarian failure 10 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044777 MONDO:0019852 True premature ovarian failure 14 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044778 MONDO:0004952 True nodular lymphocyte predominant Hodgkin lymphoma Hodgkins lymphoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044783 MONDO:0003532 True solid papillary breast carcinoma breast papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044784 MONDO:0044335 True myxoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044785 MONDO:0005012 True desmoplastic melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044785 MONDO:0006427 True desmoplastic melanoma spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044786 MONDO:0002116 True solid pseudopapillary neoplasm of the pancreas malignant exocrine pancreas neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044787 MONDO:0010150 True nasal cavity and paranasal sinus squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044787 MONDO:0056819 True nasal cavity and paranasal sinus squamous cell carcinoma nasal cavity and paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044788 MONDO:0003210 True perihilar intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044789 MONDO:0003531 True digital papillary eccrine carcinoma papillary eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044792 MONDO:0005073 True large congenital melanocytic nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044793 MONDO:0044794 True spitz nevus benign melanocytic skin nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044794 MONDO:0005073 True benign melanocytic skin nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044795 MONDO:0044793 True epithelioid cell nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044796 MONDO:0044793 True spindle cell nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044797 MONDO:0044794 True desmoplastic nevus benign melanocytic skin nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044800 MONDO:0044793 True desmoplastic spitz nevus spitz nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044800 MONDO:0044797 True desmoplastic spitz nevus desmoplastic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044873 MONDO:0018881 True childhood myelodysplastic syndrome myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044877 MONDO:0018215 True paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044878 MONDO:0005040 True adult germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044879 MONDO:0024338 True pancreatic mucinous-cystic neoplasm mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044881 MONDO:0002334 True hematopoietic and lymphoid cell neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044884 MONDO:0006998 True tonsillar lymphoma tonsil cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044885 MONDO:0005106 True tonsillar lipoma lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044885 MONDO:0021513 True tonsillar lipoma benign neoplasm of tonsil UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044887 MONDO:0002571 True central nervous system non-hodgkin lymphoma primary central nervous system lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044889 MONDO:0018905 True high grade B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044906 MONDO:0000384 True bladder urothelial papilloma bladder benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044906 MONDO:0003822 True bladder urothelial papilloma non-invasive bladder papillary urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044906 MONDO:0004041 True bladder urothelial papilloma urothelial papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044907 MONDO:0005096 True metastatic squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044907 MONDO:0024879 True metastatic squamous cell carcinoma metastatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044912 MONDO:0003544 True metastatic malignant neoplasm in the spinal cord spinal cord cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044912 MONDO:0024880 True metastatic malignant neoplasm in the spinal cord metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044913 MONDO:0002236 True metastatic malignant neoplasm in the eye ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044913 MONDO:0024880 True metastatic malignant neoplasm in the eye metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044915 MONDO:0000521 True salivary duct carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044915 MONDO:0006176 True salivary duct carcinoma cribriform carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044916 MONDO:0002728 True extrarenal rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044916 MONDO:0006517 True extrarenal rhabdoid tumor childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044917 MONDO:0000873 True T-lymphoblastic lymphoma lymphoblastic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044917 MONDO:0003537 True T-lymphoblastic lymphoma precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044917 MONDO:0015760 True T-lymphoblastic lymphoma T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044919 MONDO:0002367 True malignant renal pelvis neoplasm kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044919 MONDO:0003719 True malignant renal pelvis neoplasm renal pelvis neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044923 MONDO:0018874 True acute myeloid leukemia with mutated NPM1 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0044925 MONDO:0005515 True oral cavity carcinoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044925 MONDO:0023644 True oral cavity carcinoma lip and oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044926 MONDO:0002038 True oropharyngeal carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044926 MONDO:0004608 True oropharyngeal carcinoma oropharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044926 MONDO:0021345 True oropharyngeal carcinoma carcinoma of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044937 MONDO:0006519 True rectal carcinoma rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044937 MONDO:0024331 True rectal carcinoma colorectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044956 MONDO:0000380 True paranasal sinus mucoepidermoid carcinoma paranasal sinus carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044956 MONDO:0003036 True paranasal sinus mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044964 MONDO:0003036 True oral cavity mucoepidermoid carcinoma mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044964 MONDO:0044925 True oral cavity mucoepidermoid carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044983 MONDO:0000654 True benign lipomatous neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044983 MONDO:0021354 True benign lipomatous neoplasm tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045052 MONDO:0000654 True benign osteogenic neoplasm benign connective and soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045052 MONDO:0045053 True benign osteogenic neoplasm osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045053 MONDO:0002616 True osteogenic neoplasm mesenchymal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045055 MONDO:0004993 True glycogen-rich carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0045056 MONDO:0016642 True grade II meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045059 MONDO:0004989 True cribriform carcinoma of breast breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0045060 MONDO:0005023 True intraductal cribriform breast adenocarcinoma ductal breast carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045063 MONDO:0003175 True major salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045063 MONDO:0006284 True major salivary gland adenoid cystic carcinoma major salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045068 MONDO:0003175 True minor salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045069 MONDO:0000521 True minor salivary gland carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045069 MONDO:0021316 True minor salivary gland carcinoma malignant tumor of minor salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045070 MONDO:0002516 True digestive system melanoma digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045070 MONDO:0006320 True digestive system melanoma non-cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045071 MONDO:0000607 True mycosis fungoides variant primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0049221 MONDO:0001384 True myopia 26, X-linked, female-limited myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0049222 MONDO:0019181 True intellectual disability, X-linked 107 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054550 MONDO:0012126 True avascular necrosis of femoral head, primary, 1 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054551 MONDO:0012126 True avascular necrosis of femoral head, primary, 2 familial avascular necrosis of femoral head UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054559 MONDO:0005501 True congenital disorder of glycosylation, type IIq congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054559 MONDO:0017750 True congenital disorder of glycosylation, type IIq defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054560 MONDO:0011773 True anauxetic dysplasia 1 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054561 MONDO:0011773 True anauxetic dysplasia 2 anauxetic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054565 MONDO:0018770 True short-rib thoracic dysplasia 17 with or without polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054577 MONDO:0000009 True bleeding disorder, platelet-type, 21 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054581 MONDO:0007142 True Townes-Brocks syndrome 1 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054582 MONDO:0007142 True Townes-Brocks syndrome 2 Townes-Brocks syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054588 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 2 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054601 MONDO:0017824 True pituitary adenoma 5, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054602 MONDO:0011810 True gaze palsy, familial horizontal, with progressive scoliosis, 2 horizontal gaze palsy with progressive scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054615 MONDO:0004983 True spermatogenic failure 18 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054636 MONDO:0015159 True Skraban-Deardorff syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054637 MONDO:0011899 True Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054654 MONDO:0000732 True combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054665 MONDO:0017824 True pituitary adenoma 3, multiple types familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054666 MONDO:0009299 True ovarian dysgenesis 5 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054669 MONDO:0020135 True pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054677 MONDO:0000732 True combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054680 MONDO:0016648 True epiphyseal dysplasia, multiple, 7 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054691 MONDO:0015517 True immunodeficiency, common variable, 14 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054695 MONDO:0018947 True myopathy, centronuclear, 6, with fiber-type disproportion centronuclear myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054696 MONDO:0021094 True immunodeficiency 53 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054697 MONDO:0021094 True immunodeficiency 11b with atopic dermatitis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054698 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 1 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054699 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054700 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 2 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054701 MONDO:0012455 True Kleefstra syndrome 2 Kleefstra syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054708 MONDO:0019200 True retinitis pigmentosa 80 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054716 MONDO:0016660 True microcephaly 19, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054722 MONDO:0000127 True geleophysic dysplasia 3 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054723 MONDO:0004983 True spermatogenic failure 19 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054724 MONDO:0004983 True spermatogenic failure 20 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054725 MONDO:0004983 True spermatogenic failure 21 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054726 MONDO:0004983 True spermatogenic failure 22 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054727 MONDO:0004983 True spermatogenic failure 23 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054728 MONDO:0004983 True spermatogenic failure 24 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054729 MONDO:0004983 True spermatogenic failure 25 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054730 MONDO:0004983 True spermatogenic failure 26 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054731 MONDO:0004983 True spermatogenic failure 27 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054732 MONDO:0004983 True spermatogenic failure 28 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054733 MONDO:0004983 True spermatogenic failure 29 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054736 MONDO:0000141 True mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054737 MONDO:0009046 True Fraser syndrome 1 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054738 MONDO:0009046 True Fraser syndrome 2 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054743 MONDO:0000447 True polycystic liver disease 3 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054748 MONDO:0019391 True Fanconi anemia, complementation group S Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054761 MONDO:0016660 True microcephaly 20, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054763 MONDO:0018307 True neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054764 MONDO:0018307 True neurodegeneration with brain iron accumulation 8 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054765 MONDO:0007101 True amyloidosis, primary localized cutaneous, 3 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054770 MONDO:0015375 True orofaciodigital syndrome 18 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054771 MONDO:0015486 True keratoconus 9 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054776 MONDO:0020310 True epilepsy, familial focal, with variable foci 4 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054782 MONDO:0019046 True leukodystrophy, hypomyelinating, 15 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054785 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 6 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054791 MONDO:0019046 True leukodystrophy, hypomyelinating, 16 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054794 MONDO:0016349 True hydrocephalus, congenital, 3, with brain anomalies congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054801 MONDO:0001115 True erythrocytosis, familial, 6 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054802 MONDO:0001115 True erythrocytosis, familial, 7 familial polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054804 MONDO:0016660 True microcephaly 21, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054805 MONDO:0016660 True microcephaly 22, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054806 MONDO:0016660 True microcephaly 23, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054813 MONDO:0006025 True Ehlers-Danlos syndrome, classic-like, 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054813 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054817 MONDO:0019046 True leukodystrophy, hypomyelinating, 17 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054831 MONDO:0015452 True Coffin-Siris syndrome 7 Coffin-Siris syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054832 MONDO:0020364 True corneal dystrophy, posterior polymorphous, 4 posterior polymorphous corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054833 MONDO:0000426 True charcot-marie-tooth disease, axonal, type 2DD autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054833 MONDO:0018993 True charcot-marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0054835 MONDO:0013150 True classic dopamine transporter deficiency syndrome parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054838 MONDO:0024573 True cardiomyopathy, familial hypertrophic 27 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054846 MONDO:0000160 True epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054847 MONDO:0000160 True epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054849 MONDO:0005265 True inflammatory bowel disease 29 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054850 MONDO:0009299 True ovarian dysgenesis 6 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054852 MONDO:0019347 True peeling skin syndrome 6 peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054862 MONDO:0019852 True premature ovarian failure 15 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054865 MONDO:0016387 True encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056795 MONDO:0010595 True X-linked spermatogenic failure 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056804 MONDO:0000628 True benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056805 MONDO:0003250 True benign peripheral nerve granular cell tumor benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056806 MONDO:0005097 True non-small cell squamous lung carcinoma squamous cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0056806 MONDO:0005233 True non-small cell squamous lung carcinoma non-small cell lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056813 MONDO:0004989 True hormone-resistant breast carcinoma breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056814 MONDO:0005159 True hormone-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056815 MONDO:0006074 True liver adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056816 MONDO:0002120 True vulvar neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056816 MONDO:0005215 True vulvar neuroendocrine carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056817 MONDO:0006157 True rectal adenosquamous carcinoma colorectal adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056818 MONDO:0006074 True skin adenosquamous carcinoma adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056819 MONDO:0002038 True nasal cavity and paranasal sinus carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056819 MONDO:0056820 True nasal cavity and paranasal sinus carcinoma nasal cavity and paranasal sinus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056820 MONDO:0005586 True nasal cavity and paranasal sinus neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060455 MONDO:0000425 True X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060455 MONDO:0003689 True X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060489 MONDO:0100249 True 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060502 MONDO:0015159 True neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060549 MONDO:0003847 True congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060554 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 1 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0060555 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syndrome 2 congenital vertebral-cardiac-renal anomalies syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0060556 MONDO:0019755 True joint laxity, short stature, and myopia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060564 MONDO:0015962 True HELIX syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060568 MONDO:0015159 True Pilarowski-Bjornsson syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060583 MONDO:0003847 True platelet abnormalities with eosinophilia and immune-mediated inflammatory disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060585 MONDO:0015362 True neuronopathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060592 MONDO:0002254 True Sweeney-Cox syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060592 MONDO:0003847 True Sweeney-Cox syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060627 MONDO:0015159 True glycosylphosphatidylinositol biosynthesis defect 15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060631 MONDO:0002254 True Alkuraya-Kucinskas syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060631 MONDO:0003847 True Alkuraya-Kucinskas syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0060732 MONDO:0010110 True tetraamelia syndrome 2 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060764 MONDO:0010110 True tetraamelia syndrome 1 tetraamelia-multiple malformations syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100036 MONDO:0005027 True variable age onset epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100045 MONDO:0100043 True epidermodysplasia verruciformis, susceptibility to, 1 epidermodysplasia verruciformis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100055 MONDO:0002581 True intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100060 MONDO:0002581 True congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100063 MONDO:0002604 True Pericytoma with t(7;12) pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100067 MONDO:0002581 True childhood spindle cell rhabdomyosarcoma spindle cell rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100079 MONDO:0100062 True developmental and epileptic encephalopathy, 6 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100082 MONDO:0007893 True LEOPARD syndrome 1 Noonan syndrome with multiple lentigines UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100092 MONDO:0013981 True myoclonus, familial, 2 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100093 MONDO:0013981 True myoclonus, familial, 1 myoclonus, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100095 MONDO:0006025 True neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100096 MONDO:0020753 True COVID-19 Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100101 MONDO:0008824 True fetal akinesia deformation sequence 1 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100102 MONDO:0008824 True fetal akinesia deformation sequence 2 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100103 MONDO:0008824 True fetal akinesia deformation sequence 3 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100104 MONDO:0008824 True fetal akinesia deformation sequence 4 fetal akinesia deformation sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100105 MONDO:0020496 True brain small vessel disease 3 familial porencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100115 MONDO:0002565 True acute flaccid myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100116 MONDO:0020753 True Middle East respiratory syndrome Orthocoronavirinae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100119 MONDO:0800166 True Knobloch syndrome 2 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100135 MONDO:0100062 True Dravet syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100153 MONDO:0005071 True tubulinopathy nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100156 MONDO:0009853 True Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100157 MONDO:0009853 True Imerslund-Grasbeck syndrome type 2 Imerslund-Grasbeck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100163 MONDO:0005108 True COVID-19–associated multisystem inflammatory syndrome in children viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100164 MONDO:0016391 True permanent neonatal diabetes mellitus neonatal diabetes mellitus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100165 MONDO:0100164 True permanent neonatal diabetes mellitus 1 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100186 MONDO:0016543 True GTP cyclohydrolase I deficiency with hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100211 MONDO:0006025 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100211 MONDO:0100210 True growth hormone insensitivity with immune dysregulation 1, autosomal recessive growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100212 MONDO:0015947 True IFAP syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100213 MONDO:0020605 True IFAP syndrome 1, with or without BRESHECK syndrome X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100213 MONDO:0100212 True IFAP syndrome 1, with or without BRESHECK syndrome IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100215 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 1 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100216 MONDO:0002254 True DICER1-related tumor predisposition syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100216 MONDO:0003847 True DICER1-related tumor predisposition hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100217 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 2 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100218 MONDO:0015168 True arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100219 MONDO:0100210 True growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant growth hormone insensitivity syndrome with immune dysregulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100220 MONDO:0100214 True Rajab interstitial lung disease with brain calcifications 2 Rajab interstitial lung disease with brain calcifications UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100221 MONDO:0100212 True IFAP syndrome 2 IFAP syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100223 MONDO:0100133 True mitochondrial complex I deficiency, nuclear type mitochondrial complex I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100224 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100244 MONDO:0003656 True paroxysmal nocturnal hemoglobinuria hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100244 MONDO:0015610 True paroxysmal nocturnal hemoglobinuria acquired aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100247 MONDO:0003847 True multiple congenital anomalies-hypotonia-seizures syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100249 MONDO:0017576 True 46,XX testicular disorder of sex development 46,XX disorder of sex development UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100250 MONDO:0003847 True 46,XX sex reversal 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100250 MONDO:0100249 True 46,XX sex reversal 1 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100251 MONDO:0018891 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial tumoral calcinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100251 MONDO:0019052 True familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100253 MONDO:0002254 True Roberts-SC phocomelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100253 MONDO:0006025 True Roberts-SC phocomelia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100255 MONDO:0000351 True adenosine kinase deficiency disorder of methionine catabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100280 MONDO:0000432 True Waldenstrom macroglobulinemia lymphoplasmacytic lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100280 MONDO:0017594 True Waldenstrom macroglobulinemia indolent B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100281 MONDO:0100280 True macroglobulinemia, Waldenstrom, 1 Waldenstrom macroglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100290 MONDO:0015524 True colon serrated polyposis hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100290 MONDO:0021400 True colon serrated polyposis polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100291 MONDO:0004963 True early T cell progenitor acute lymphoblastic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100292 MONDO:0031415 True Carey-Fineman-Ziter syndrome 2 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100294 MONDO:0031230 True mitochondrial complex II deficiency, nuclear type 1 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100296 MONDO:0031421 True Olmsted syndrome 1 Olmsted syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100297 MONDO:0031439 True short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100302 MONDO:0007872 True LADD syndrome 1 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100303 MONDO:0011870 True ichthyosis, annular epidermolytic 1 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100313 MONDO:0000490 True focal segmental glomerulosclerosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100316 MONDO:0019171 True long QT syndrome 1 familial long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100325 MONDO:0031169 True odontochondrodysplasia 1 odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100326 MONDO:0021181 True Glanzmann thrombasthenia inherited blood coagulation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100338 MONDO:0002118 True urinary tract infection urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100338 MONDO:0005550 True urinary tract infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100340 MONDO:0100339 True Friedreich ataxia 1 Friedreich ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100342 MONDO:0002714 True malignant glioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100342 MONDO:0021042 True malignant glioma glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100344 MONDO:0015231 True Bartter disease type 1 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100345 MONDO:0019214 True lactose intolerance inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100349 MONDO:0015369 True COACH syndrome Joubert syndrome and related disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100350 MONDO:0015362 True neuronopathy, distal hereditary motor, type 5 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100352 MONDO:0044202 True episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100354 MONDO:0025986 True megacystis-microcolon-intestinal hypoperistalsis syndrome 1 megacystis-microcolon-intestinal hypoperistalsis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100367 MONDO:0019755 True port-wine nevi-mega cisterna magna-hydrocephalus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100373 MONDO:0018874 True acute myeloid leukemia, inv(16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100374 MONDO:0018874 True acute myeloid leukemia, t(16;16)(p13.1;q22) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100375 MONDO:0018874 True acute myeloid leukemia, t(15;17)(q24;q21) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100377 MONDO:0018874 True acute myeloid leukemia, t(10;11)(p12;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100381 MONDO:0018874 True acute myeloid leukemia, t(6;11)(q27;q23) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100382 MONDO:0018874 True acute myeloid leukemia, t(6;9)(p23;q34.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100389 MONDO:0018874 True acute myeloid leukemia, Trisomy 8 acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100395 MONDO:0018874 True acute myeloid leukemia, t(5;11)(q35;p15) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100396 MONDO:0018874 True acute myeloid leukemia, t(7;12)(q36;p13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100398 MONDO:0018874 True acute myeloid leukemia, inv(3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100399 MONDO:0018874 True acute myeloid leukemia, t(3;3)(q21.3;q26.2) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100404 MONDO:0018874 True acute myeloid leukemia, MLL gene rearrangement acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100407 MONDO:0018874 True acute myeloid leukemia, t(11;15)(p15;q35) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100409 MONDO:0018874 True acute myeloid leukemia, t(3;5)(q25;q34) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100413 MONDO:0018874 True acute myeloid leukemia, biallelic CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100414 MONDO:0018874 True acute myeloid leukemia, CEBPA gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100415 MONDO:0018874 True acute myeloid leukemia, FLT3 internal tandem duplication acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100422 MONDO:0018874 True acute myeloid leukemia, RUNX1 gene mutation acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100428 MONDO:0008890 True progressive bulbar palsy of childhood progressive bulbar palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100429 MONDO:0019072 True intrahepatic cholestasis of pregnancy intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100431 MONDO:0005277 True migraine without aura migraine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100436 MONDO:0005129 True cataract 2, multiple types cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0100452 MONDO:0000426 True RPE65-related dominant retinopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100459 MONDO:0005372 True azoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100462 MONDO:0018383 True short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100466 MONDO:0018973 True butterfly-shaped pigment dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100467 MONDO:0005081 True preeclampsia/eclampsia 1 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100480 MONDO:0015129 True autoimmune primary adrenal insufficiency chronic primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100490 MONDO:0015855 True breasts and/or nipples, aplasia or hypoplasia of, 1 isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0100510 MONDO:0005516 True spondyloepimetaphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0100512 MONDO:0018158 True mitochondrial DNA depletion syndrome, hepatocerebral form mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100514 MONDO:0005140 True familial ovarian carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100527 MONDO:0016357 True dysplastic cortical hyperostosis, Kozlowski-Tsuruta type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100528 MONDO:0014805 True Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100534 MONDO:0006260 True SMARCB1-deficient kidney medullary carcinoma kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0700088 MONDO:0015427 True paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700112 MONDO:0018677 True heterotaxy, visceral, 5, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0700135 MONDO:0700134 True bovine leukemia bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700136 MONDO:0700134 True bovine protoporphyria bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700137 MONDO:0700134 True bovine lymphosarcoma bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700138 MONDO:0700134 True bovine rectal myxoma bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700141 MONDO:0700139 True canine melanoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700143 MONDO:0700139 True canine mammary carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700144 MONDO:0700139 True canine leukemia canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700145 MONDO:0700139 True canine lymphoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700147 MONDO:0700139 True canine histiocytic sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700148 MONDO:0700139 True canine transitional cell carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700149 MONDO:0700139 True canine sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700150 MONDO:0700139 True canine mastocytoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700151 MONDO:0700139 True canine glioma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700152 MONDO:0700139 True canine hepatocellular carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700153 MONDO:0700139 True canine lung adenocarcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700155 MONDO:0700139 True canine thyroid adenocarcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700157 MONDO:0700139 True canine oral squamous cell carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700158 MONDO:0700139 True canine pancreatic carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700159 MONDO:0700139 True canine acanthomatous epulis canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700160 MONDO:0700139 True canine mammary adenoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700161 MONDO:0700139 True canine gastrointestinal stromal tumor canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700163 MONDO:0700139 True canine Langerhans cell histiocytosis canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700164 MONDO:0700139 True canine nephroblastoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700166 MONDO:0700139 True canine transmissible venereal tumor canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700167 MONDO:0700139 True canine sebaceous gland epithelioma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700168 MONDO:0700141 True canine oral melanoma canine melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700169 MONDO:0700145 True canine cutaneous t-cell lymphoma canine lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700191 MONDO:0700189 True chicken fibrosarcoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700192 MONDO:0700189 True chicken hepatoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700193 MONDO:0700189 True chicken monocytic leukemia chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700194 MONDO:0700189 True chicken lymphoma chicken neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700219 MONDO:0024880 True neoplastic meningitis metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700226 MONDO:0005271 True food allergy allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0800026 MONDO:0001292 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800026 MONDO:0800031 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0800043 MONDO:0019698 True Stüve-Wiedemann syndrome 1 bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800043 MONDO:0031280 True Stüve-Wiedemann syndrome 1 Stuve-Wiedemann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800044 MONDO:0019214 True congenital disorder of deglycosylation 1 inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800044 MONDO:0031376 True congenital disorder of deglycosylation 1 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800045 MONDO:0031384 True autoinflammatory syndrome, familial, Behcet-like 1 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800046 MONDO:0031432 True thyroid hormone metabolism, abnormal 1 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800047 MONDO:0031447 True macrothrombocytopenia, isolated, 1, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800104 MONDO:0031520 True immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800131 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800436 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0800437 MONDO:0031415 True Carey-Fineman-Ziter syndrome 1 Carey-Fineman-Ziter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800438 MONDO:0031632 True developmental delay with short stature, dysmorphic facial features, and sparse hair 1 developmental delay with short stature, dysmorphic facial features, and sparse hair UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800445 MONDO:0800444 True Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800448 MONDO:0019046 True leukoencephalopathy with vanishing white matter leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0800449 MONDO:0015905 True lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800449 MONDO:0019245 True lysosomal acid lipase deficiency lysosomal lipid storage disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0800452 MONDO:0800451 True congenital amegakaryocytic thrombocytopenia 1 congenital amegakaryocytic thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800455 MONDO:0800444 True Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0850001 MONDO:0016295 True congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850053 MONDO:0019751 True F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850064 MONDO:0015356 True inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850065 MONDO:0019751 True neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850066 MONDO:0019751 True SAMD9L-associated autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850072 MONDO:0015337 True non-syndromic unisutural craniosynostosis isolated craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850073 MONDO:0015469 True non-syndromic unicoronal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850074 MONDO:0015469 True non-syndromic unilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850075 MONDO:0015469 True non-syndromic unifrontosphenoidal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850076 MONDO:0015469 True non-syndromic unisquamosal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850077 MONDO:0015469 True non-syndromic multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850078 MONDO:0015469 True non-syndromic non-specific multisutural craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850079 MONDO:0015469 True non-syndromic bilambdoid craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850080 MONDO:0015469 True non-syndromic unicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850081 MONDO:0015469 True non-syndromic metopic and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850082 MONDO:0015469 True non-syndromic bicoronal and metopic craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850083 MONDO:0015469 True non-syndromic bicoronal and sagittal craniosynostosis craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850092 MONDO:0002254 True post-cardiac arrest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850093 MONDO:0000411 True absence epilepsy electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850097 MONDO:0020640 True autoimmune limbic encephalitis autoimmune encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850098 MONDO:0005372 True oligoasthenoteratozoospermia male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850101 MONDO:0005012 True spitzoid melanoma cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850104 MONDO:0019956 True paraneoplastic isolated brainstem encephalitis encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850110 MONDO:0005012 True melanoma in congenital melanocytic nevus cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850112 MONDO:0000430 True breast implant-associated anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850122 MONDO:0005061 True solid adenocarcinoma with mucin production lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850123 MONDO:0056804 True autonomic nervous system benign neoplasm benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850125 MONDO:0004992 True malignant adenoma cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850127 MONDO:0015798 True epithelioid inflammatory myofibroblastic sarcoma inflammatory myofibroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850128 MONDO:0003150 True epididymis disease male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850129 MONDO:0002516 True gastroesophageal cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850130 MONDO:0004970 True gastroesophageal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850144 MONDO:0005165 True germ cell benign neoplasm benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850149 MONDO:0002513 True nephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850150 MONDO:0005240 True kidney cortex disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850151 MONDO:0001082 True lymph node carcinoma lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850151 MONDO:0004993 True lymph node carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850152 MONDO:0000633 True auditory system benign neoplasm sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850152 MONDO:0002409 True auditory system benign neoplasm auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850154 MONDO:0004631 True tongue carcinoma tongue cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850156 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma MLL rearranged B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850157 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850160 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IL3-IGH B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850161 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850162 MONDO:0004947 True B-lymphoblastic leukemia/lymphoma with IAMP21 B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850170 MONDO:0001516 True spinal muscular atrophy type 0 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850196 MONDO:0007959 True medulloblastoma WNT activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850197 MONDO:0007959 True medulloblastoma SHH activated medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850198 MONDO:0007959 True medulloblastoma non-WNT/non-SHH medulloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850199 MONDO:0003778 True NK cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850200 MONDO:0003778 True T cell and NK cell immunodeficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850201 MONDO:0002254 True hereditary alpha tryptasemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850223 MONDO:0000603 True Libman-Sacks endocarditis autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850223 MONDO:0005025 True Libman-Sacks endocarditis endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850225 MONDO:0016264 True autoimmune cholangitis autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850230 MONDO:0005492 True chronic urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850231 MONDO:0006591 True erythema nodosum panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850257 MONDO:0004957 True mucinous pancreas adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850257 MONDO:0006047 True mucinous pancreas adenocarcinoma pancreatic adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850267 MONDO:0018872 True childhood acute megakaryoblastic leukemia acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850269 MONDO:0018874 True core binding factor acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850271 MONDO:0018872 True myeloid leukemia associated with down syndrome acute megakaryoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850273 MONDO:0000521 True salivary gland mucinous adenocarcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850273 MONDO:0004957 True salivary gland mucinous adenocarcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850281 MONDO:0000521 True mammary analog secretory carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850282 MONDO:0004979 True chronic asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850283 MONDO:0004979 True acute asthma asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850284 MONDO:0850282 True extrinsic asthma chronic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850285 MONDO:0004765 True environmental induced asthma intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850286 MONDO:0004765 True exercise-induced bronchoconstriction intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850287 MONDO:0004765 True aspirin-induced respiratory disease intrinsic asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850289 MONDO:0005108 True human betaherpesvirus 5 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850292 MONDO:0002039 True subjective cognitive decline cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850295 MONDO:0004382 True acquired laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850301 MONDO:0019337 True pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850302 MONDO:0016642 True intracranial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850303 MONDO:0016642 True supratentorial meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850306 MONDO:0005147 True latent autoimmune diabetes in adults type 1 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850312 MONDO:0021636 True anaplastic pleomorphic xanthoastrocytoma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850332 MONDO:0016684 True IDH-mutant anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850333 MONDO:0016684 True IDH-wildtype anaplastic astrocytoma anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850335 MONDO:0018177 True IDH-wildtype glioblastoma glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850338 MONDO:0003473 True spinal ependymoma, MYCN-amplified spinal cord ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850339 MONDO:0016700 True posterior fossa ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850340 MONDO:0016700 True supratentorial ependymoma anaplastic ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850345 MONDO:0003573 True lung pleomorphic carcinoma pleomorphic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850346 MONDO:0005212 True oral rhabdomyosarcoma rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850346 MONDO:0005515 True oral rhabdomyosarcoma oral cavity cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850347 MONDO:0002837 True bladder sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850348 MONDO:0004986 True bladder small cell carcinoma urinary bladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850349 MONDO:0016707 True astroblastoma, MN1-altered astroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850353 MONDO:0005159 True castration-resistant prostate carcinoma prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850368 MONDO:0019065 True immunoglobulin heavy-and-light chain amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850371 MONDO:0005010 True nonobstructive coronary artery disease coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850388 MONDO:0004378 True childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850416 MONDO:0000568 True autoimmune epilepsy autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850416 MONDO:0005027 True autoimmune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850417 MONDO:0018076 True tuberculous encephalopathy tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850418 MONDO:0018905 True diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850419 MONDO:0018905 True diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850420 MONDO:0006515 True acute necrotizing pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850421 MONDO:0006515 True acute hemorrhagic pancreatitis acute pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850426 MONDO:0004095 True high-grade B-cell lymphoma double-hit/triple-hit B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850445 MONDO:0000650 True benign peritoneal solitary fibrous tumor peritoneal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850449 MONDO:0020322 True mixed phenotype acute leukemia with BCR-ABL1 acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850450 MONDO:0020322 True mixed phenotype acute leukemia with MLL rearranged acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850451 MONDO:0020322 True mixed phenotype acute leukemia, B/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850452 MONDO:0020322 True mixed phenotype acute leukemia,T/myeloid acute biphenotypic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850459 MONDO:0000607 True primary cutaneous gamma-delta t-cell lymphoma primary cutaneous T-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850461 MONDO:0000408 True neurobehavioral disorder with prenatal alcohol exposure fetal alcohol spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850468 MONDO:0018905 True BN2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850469 MONDO:0018905 True EZB diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850470 MONDO:0018905 True MCD diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850471 MONDO:0018905 True N1 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850472 MONDO:0018905 True ST2 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850473 MONDO:0018905 True A53 diffuse large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850492 MONDO:0018874 True acute myeloid leukemia, t(8;21)(q22; q22.1) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850495 MONDO:0018874 True acute myeloid leukemia, t(1;22)(p13;q13) acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850514 MONDO:0000426 True inclusion body myopathy and brain white matter abnormalities autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850514 MONDO:0000507 True inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with Paget disease of bone and frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0850519 MONDO:0004736 True tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850618 MONDO:0005119 True injection anthrax anthrax infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0850812 MONDO:0003778 True dendritic cell deficiency inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851095 MONDO:0000426 True KINSSHIP syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851095 MONDO:0002254 True KINSSHIP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851100 MONDO:0002433 True malignant olfactory nerve neoplasm malignant cranial nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851102 MONDO:0000473 True pulmonary artery disease arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851102 MONDO:0005275 True pulmonary artery disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851103 MONDO:0002263 True Bartholin's gland disease female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0851105 MONDO:0000629 True cerebrovascular benign neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858910 MONDO:0000812 True dropped head syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858916 MONDO:0002109 True pituitary blastoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858916 MONDO:0005565 True pituitary blastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858917 MONDO:0003164 True cauda equina neuroendocrine tumor cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858926 MONDO:0002254 True developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858939 MONDO:0100342 True diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858940 MONDO:0021636 True infant-type hemispheric glioma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858944 MONDO:0000628 True myxoid glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858956 MONDO:0000628 True diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858957 MONDO:0000628 True multinodular and vacuolating neuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858958 MONDO:0016684 True high-grade astrocytoma with piloid features anaplastic astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858959 MONDO:0000628 True polymorphous low grade neuroepithelial tumor of the young central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858960 MONDO:0003257 True spindle cell oncocytoma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858966 MONDO:0000640 True central nervous system tumor with bcor internal tandem duplication central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858967 MONDO:0002216 True primary intracranial sarcoma, DICER1-mutant brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858974 MONDO:0002254 True breast implant illness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858974 MONDO:0002657 True breast implant illness breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0858989 MONDO:0015150 True autosomal recessive spastic paraplegia type 84 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858990 MONDO:0015150 True autosomal recessive spastic paraplegia type 85 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858991 MONDO:0015150 True autosomal recessive spastic paraplegia type 86 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858992 MONDO:0019064 True autosomal recessive spastic paraplegia type 87 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858998 MONDO:0015159 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858998 MONDO:0018230 True mesomelic dysplasia-digital anomalies-intellectual disability syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858999 MONDO:0015159 True KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859001 MONDO:0018354 True CPE-related Prader-Willi-like syndrome Prader-Willi-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859002 MONDO:0015159 True intellectual disability-early-onset cataract-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859003 MONDO:0019236 True PAICS deficiency inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859005 MONDO:0018234 True preaxial digit brachydactyly-webbed fingers dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859006 MONDO:0018234 True proximal femoral focal deficiency dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859007 MONDO:0019289 True mosaic Legius syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859008 MONDO:0015356 True neurofibromatosis/schwannomatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859086 MONDO:0019181 True intellectual developmental disorder, X-linked 110 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859160 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 22 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859171 MONDO:0003847 True Luo-Schoch-Yamamoto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859192 MONDO:0031037 True cerebral cavernous malformation 4 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859197 MONDO:0003847 True intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859208 MONDO:0003847 True Hengel-Maroofian-Schols syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859228 MONDO:0000732 True combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859234 MONDO:0015977 True agammaglobulinemia 8b, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0859237 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0859242 MONDO:0019046 True leukodystrophy, hypomyelinating, 24 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859245 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859264 MONDO:0019952 True congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859279 MONDO:0015363 True spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859280 MONDO:0003847 True developmental delay, hypotonia, and impaired language hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859300 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859308 MONDO:0019200 True retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859309 MONDO:0019064 True spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859311 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859314 MONDO:0100062 True developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859319 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859320 MONDO:0100223 True mitochondrial complex I deficiency, nuclear type 39 mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859321 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859323 MONDO:0000732 True combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859325 MONDO:0100062 True developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859327 MONDO:0100062 True developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859328 MONDO:0018100 True hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859329 MONDO:0000141 True mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859330 MONDO:0014769 True oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859332 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859333 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859334 MONDO:0020380 True spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859335 MONDO:0019952 True congenital myopathy 15 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859353 MONDO:0016575 True ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859354 MONDO:0031432 True thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859356 MONDO:0005501 True congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859357 MONDO:0005501 True congenital disorder of glycosylation, type IIz congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859358 MONDO:0016333 True cardiomyopathy, dilated, 2H familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859360 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859362 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859363 MONDO:0019064 True spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859364 MONDO:0004983 True spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859366 MONDO:0019587 True hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859367 MONDO:0019200 True retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859372 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859373 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 78 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859374 MONDO:0019588 True hearing loss, autosomal recessive 120 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859378 MONDO:0019046 True leukodystrophy, hypomyelinating, 25 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859379 MONDO:0019313 True lymphatic malformation 13 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859380 MONDO:0044202 True episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859381 MONDO:0016333 True cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859382 MONDO:0005129 True cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859477 MONDO:0004983 True spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859478 MONDO:0004983 True spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859514 MONDO:0019952 True congenital myopathy 18 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859515 MONDO:0019952 True congenital myopathy 10b, mild variant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859517 MONDO:0019952 True congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859518 MONDO:0019046 True leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859520 MONDO:0033885 True Mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859521 MONDO:0014769 True oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859522 MONDO:0004983 True spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859523 MONDO:0019952 True congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859524 MONDO:0019587 True hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859525 MONDO:0019587 True hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859526 MONDO:0021094 True immunodeficiency 109 with lymphoproliferation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859527 MONDO:0019587 True hearing loss, autosomal dominant 88 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859528 MONDO:0019587 True hearing loss, autosomal dominant 89 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859529 MONDO:0005144 True amyotrophic lateral sclerosis 27, juvenile familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859564 MONDO:0859390 True epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859565 MONDO:0020290 True atrioventricular septal defect familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859567 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859568 MONDO:0031166 True macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859569 MONDO:0031646 True braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859570 MONDO:0031646 True braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859571 MONDO:0005711 True diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859572 MONDO:0031323 True cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859573 MONDO:0031615 True bent bone dysplasia syndrome 2 familial bent bone dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859574 MONDO:0011870 True ichthyosis, annular epidermolytic, 2 annular epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859575 MONDO:0000141 True Atelis syndrome 1 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859575 MONDO:0859393 True Atelis syndrome 1 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859576 MONDO:0000141 True Atelis syndrome 2 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859576 MONDO:0859393 True Atelis syndrome 2 Atelis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859577 MONDO:0007872 True lacrimoauriculodentodigital syndrome 2 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859578 MONDO:0007872 True lacrimoauriculodentodigital syndrome 3 LADD syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859588 MONDO:0018855 True keratosis pilaris atrophicans faciei keratosis pilaris atrophicans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859591 MONDO:0021637 True childhood low-grade glioma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859592 MONDO:0016696 True IDH-mutant and 1p/19q-codeleted oligodendroglioma anaplastic oligodendroglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859597 MONDO:0002900 True cns neuroblastoma with FOXR2 activation cerebral neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859598 MONDO:0017858 True erythroleukemia acute erythroid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859614 MONDO:0021637 True diffuse low-grade glioma, MAPK pathway–altered low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859615 MONDO:0016686 True diffuse astrocytoma, MYB- or MYBL1-altered diffuse astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859689 MONDO:0000385 True hepatobiliary benign neoplasm benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859690 MONDO:0850125 True malignant cystadenoma malignant adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859692 MONDO:0016593 True immune-mediated cerebellar ataxia acquired ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859747 MONDO:0019466 True grade I lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859748 MONDO:0019466 True grade II lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859749 MONDO:0019466 True grade III lymphomatoid granulomatosis lymphomatoid granulomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0859761 MONDO:0859000 True SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859762 MONDO:0859000 True SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859763 MONDO:0859008 True mosaic neurofibromatosis type 1 neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859764 MONDO:0859008 True mosaic NF2-related schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859765 MONDO:0859008 True mosaic schwannomatosis neurofibromatosis/schwannomatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957111 MONDO:0019119 True neurological muscular channelopathy due to a genetic sodium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957112 MONDO:0019119 True neurological muscular channelopathy due to a genetic chloride channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957113 MONDO:0019119 True neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957114 MONDO:0019119 True neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957115 MONDO:0019119 True neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957202 MONDO:0004983 True spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957203 MONDO:0019181 True intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957208 MONDO:0013099 True pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957215 MONDO:0019952 True congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957216 MONDO:0019852 True premature ovarian failure 21 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957217 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 12 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957220 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 17 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957221 MONDO:0019064 True spastic paraplegia 70, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957224 MONDO:0019952 True congenital myopathy 21 with early respiratory failure congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957228 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957229 MONDO:0021094 True hatipoglu immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957230 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 18 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957231 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 19 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957240 MONDO:0015993 True cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957247 MONDO:0019952 True congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957248 MONDO:0100062 True developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957249 MONDO:0004983 True spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957250 MONDO:0004983 True spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957252 MONDO:0016575 True ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957253 MONDO:0000824 True diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957254 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957255 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957261 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957262 MONDO:0019026 True osteopetrosis, autosomal recessive 9 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957263 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957264 MONDO:0012815 True cerebroretinal microangiopathy with calcifications and cysts 3 Coats plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957265 MONDO:0019952 True congenital myopathy 22B, severe fetal congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957270 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 28 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957274 MONDO:0019064 True spastic paraplegia 89, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957278 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 20 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957281 MONDO:0018958 True nemaline myopathy 5B, autosomal recessive, childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957317 MONDO:0003847 True hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0957382 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957385 MONDO:0044807 True dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957388 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 3 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957396 MONDO:0016575 True ciliary dyskinesia, primary, 51 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957397 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 72 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957421 MONDO:0006009 True borna virus encephalitis viral encephalitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957426 MONDO:0018037 True autosomal recessive hyper-IgE syndrome hyper-IgE syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957442 MONDO:0100309 True autosomal recessive ataxia due to PEX16 deficiency hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957443 MONDO:0100309 True autosomal recessive ataxia due to PEX2 deficiency hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957451 MONDO:0017077 True non-terminal myelocystocele myelocystocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957453 MONDO:0019773 True true myelomeningocele myelomeningocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957454 MONDO:0019773 True hemi-myelomeningocele myelomeningocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957456 MONDO:0016367 True classical dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957458 MONDO:0016367 True adermatopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957461 MONDO:0018076 True primary tuberculous lymphadenitis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957463 MONDO:0018076 True primary bone and joint tuberculosis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957465 MONDO:0018076 True multifocal tuberculosis tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957466 MONDO:0018076 True primary tuberculosis of the digestive system tuberculosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957476 MONDO:0019356 True isolated persistent urogenital sinus urogenital tract malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957495 MONDO:0957097 True hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hereditary hemolytic uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957496 MONDO:0019181 True intellectual developmental disorder, X-linked 112 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957530 MONDO:0100526 True breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957533 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 3 leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957534 MONDO:0000137 True megalencephalic leukoencephalopathy with subcortical cysts 4, remitting leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957535 MONDO:0021094 True immunodeficiency 112 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957537 MONDO:0000732 True combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957538 MONDO:0005144 True amyotrophic lateral sclerosis 28 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957539 MONDO:0044807 True dystonia 22, juvenile-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957540 MONDO:0005501 True congenital disorder of glycosylation, type IIaa congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957542 MONDO:0044807 True dystonia 22, adult-onset inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957543 MONDO:0000107 True auriculocondylar syndrome 4 auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957544 MONDO:0000107 True auriculocondylar syndrome 2B auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957545 MONDO:0016333 True cardiomyopathy, dilated, 2I familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957556 MONDO:0017864 True congenital pulmonary vein atresia congenital pulmonary veins atresia or stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957572 MONDO:0100241 True thrombocytopenia 9 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957576 MONDO:0005180 True parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957578 MONDO:0100241 True thrombocytopenia 10 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957580 MONDO:0000009 True bleeding disorder, platelet-type, 25 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957584 MONDO:0004983 True spermatogenic failure 85 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957593 MONDO:0004983 True spermatogenic failure 86 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957594 MONDO:0004983 True spermatogenic failure 87 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957595 MONDO:0000159 True Ziegler-Huang syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957780 MONDO:0100062 True developmental and epileptic encephalopathy 111 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957788 MONDO:0019064 True spastic paraplegia 18a, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957809 MONDO:0018542 True neutropenia, severe congenital, 10, autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957812 MONDO:0100062 True developmental and epileptic encephalopathy 112 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957819 MONDO:0019942 True arthrogryposis, distal, type 12 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957820 MONDO:0005501 True congenital disorder of glycosylation, type IIb congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957821 MONDO:0004983 True spermatogenic failure 88 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957822 MONDO:0019852 True premature ovarian failure 22 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957824 MONDO:0043878 True optic atrophy 14 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957825 MONDO:0019588 True deafness, autosomal recessive 121 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957870 MONDO:0800448 True leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957871 MONDO:0800448 True leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957872 MONDO:0800448 True leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957873 MONDO:0800448 True leukoencephalopathy with vanishing white matter 5 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957874 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 9 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957875 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 11 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957876 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 10 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957920 MONDO:0021094 True immunodeficiency 113 with autoimmunity and autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957921 MONDO:0016033 True Cornelia de Lange syndrome 6 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957922 MONDO:0016575 True ciliary dyskinesia, primary, 52 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957928 MONDO:0005349 True otosclerosis 11 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957935 MONDO:0043878 True optic atrophy 15 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957953 MONDO:0020732 True Garg-Mishra progeroid syndrome progeria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957954 MONDO:0019313 True lymphatic malformation 14 lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957955 MONDO:0021094 True immunodeficiency 114, folate-responsive immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957958 MONDO:0019064 True spastic paraplegia 72b, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957961 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 21 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957978 MONDO:0043878 True optic atrophy 16 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957981 MONDO:0021094 True immunodeficiency 115 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957984 MONDO:0016333 True cardiomyopathy, dilated, 2j familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957988 MONDO:0019019 True osteogenesis imperfecta, type 23 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957991 MONDO:0016575 True ciliary dyskinesia, primary, 53 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957992 MONDO:0000732 True combined oxidative phosphorylation deficiency 59 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957993 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957999 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958000 MONDO:0100241 True thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958009 MONDO:0017845 True spastic ataxia 10, autosomal recessive spastic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958011 MONDO:0021094 True immunodeficiency 117 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958012 MONDO:0018307 True neurodegeneration with brain iron accumulation 9 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958013 MONDO:0015517 True immunodeficiency, common variable, 15 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958017 MONDO:0018542 True neutropenia, severe congenital, 11, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958018 MONDO:0019046 True leukodystrophy, hypomyelinating, 27 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958022 MONDO:0020088 True lipodystrophy, familial partial, type 8 familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958023 MONDO:0006536 True lipodystrophy, congenital generalized, type 5 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958030 MONDO:0021094 True immunodeficiency 118 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958035 MONDO:0019852 True premature ovarian failure 23 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958174 MONDO:0007187 True basal cell nevus syndrome 1 nevoid basal cell carcinoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958175 MONDO:0015397 True craniofacial microsomia 1 craniofacial microsomia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958176 MONDO:0008116 True oculopharyngeal muscular dystrophy 1 oculopharyngeal muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958177 MONDO:0009813 True chronic recurrent multifocal osteomyelitis 3 chronic recurrent multifocal osteomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958178 MONDO:0957400 True cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958179 MONDO:0011612 True glycine encephalopathy 1 glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958180 MONDO:0012033 True prolonged electroretinal response suppression 1 bradyopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0958181 MONDO:0012172 True mitochondrial trifunctional protein deficiency 1 mitochondrial trifunctional protein deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958182 MONDO:0013343 True C1Q deficiency 1 C1Q deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958183 MONDO:0030309 True Leber-like hereditary optic neuropathy, autosomal recessive 1 Leber hereditary optic neuropathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958184 MONDO:0957316 True epidermolytic hyperkeratosis 2 epidermolytic hyperkeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958185 MONDO:0012172 True mitochondrial trifunctional protein deficiency 2 mitochondrial trifunctional protein deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958186 MONDO:0957317 True hematuria, benign familial, 2 hematuria, benign familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958187 MONDO:0013343 True C1Q deficiency 2 C1Q deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958188 MONDO:0013343 True C1Q deficiency 3 C1Q deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958189 MONDO:0007187 True basal cell nevus syndrome 2 nevoid basal cell carcinoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958190 MONDO:0012033 True prolonged electroretinal response suppression 2 bradyopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958191 MONDO:0957318 True nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis nephrolithiasis, calcium oxalate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958192 MONDO:0011612 True glycine encephalopathy 2 glycine encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958193 MONDO:0957400 True cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958194 MONDO:0015397 True craniofacial microsomia 2 craniofacial microsomia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958195 MONDO:0008116 True oculopharyngeal muscular dystrophy 2 oculopharyngeal muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958196 MONDO:0957599 True epilepsy, early-onset, 3, with or without developmental delay epilepsy, early-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958197 MONDO:0030309 True Leber-like hereditary optic neuropathy, autosomal recessive 2 Leber hereditary optic neuropathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0015770 True Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000008 MONDO:0023910 True Martsolf syndrome 1 Martsolf syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000010 MONDO:0007179 True antiphospholipid syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000011 MONDO:0000858 True visceral neuropathy, familial, 1, autosomal recessive neuronal intestinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000011 MONDO:0017574 True visceral neuropathy, familial, 1, autosomal recessive chronic intestinal pseudoobstruction UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000011 MONDO:0023961 True visceral neuropathy, familial, 1, autosomal recessive visceral neuropathy, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000012 MONDO:0024189 True neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000013 MONDO:0024193 True portal hypertension, noncirrhotic, 1 portal hypertension, noncirrhotic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000015 MONDO:0010765 True 46,XY sex reversal 11 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:8000018 MONDO:0004900 True benign paroxysmal positional vertigo peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:8000024 MONDO:0017979 True autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000005 MONDO:0004907 False alopecia, isolated alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000005 MONDO:0100118 False alopecia, isolated hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000009 MONDO:0002243 False inherited bleeding disorder, platelet-type hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000009 MONDO:0002243 False inherited bleeding disorder, platelet-type hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000009 MONDO:0002245 False inherited bleeding disorder, platelet-type blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000009 MONDO:0003847 False inherited bleeding disorder, platelet-type hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000009 MONDO:0003847 False inherited bleeding disorder, platelet-type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000015 MONDO:0003832 False classic complement early component deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000022 MONDO:0024290 False nocturnal enuresis enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000023 MONDO:0003847 False infantile liver failure hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000022 MONDO:0024290 False nocturnal enuresis enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000023 MONDO:0003847 False infantile liver failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000023 MONDO:0100192 False infantile liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000030 MONDO:0002612 False sleep-related hypermotor epilepsy frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000030 MONDO:0017704 False sleep-related hypermotor epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000032 MONDO:0003847 False febrile seizures, familial hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000032 MONDO:0003847 False febrile seizures, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000044 MONDO:0003847 False hereditary hypophosphatemic rickets hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000044 MONDO:0024300 False hereditary hypophosphatemic rickets hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000045 MONDO:0003847 False hypothyroidism, congenital, nongoitrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000045 MONDO:0018612 False hypothyroidism, congenital, nongoitrous congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000050 MONDO:0013099 False isolated congenital growth hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000062 MONDO:0003847 False isolated microphthalmia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000050 MONDO:0013099 False isolated congenital growth hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000062 MONDO:0003847 False isolated microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000065 MONDO:0020573 False microvascular complications of diabetes, susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000078 MONDO:0019796 False acrocephalopolysyndactyly acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000079 MONDO:0005298 False nephrolithiasis/osteoporosis, hypophosphatemic osteoporosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000079 MONDO:0005298 False nephrolithiasis/osteoporosis, hypophosphatemic osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0000082 MONDO:0005039 False pelvic organ prolapse reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000087 MONDO:0002320 False polymicrogyria congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000088 MONDO:0002259 False precocious puberty gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000088 MONDO:0021147 False precocious puberty disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000087 MONDO:0002320 False polymicrogyria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000088 MONDO:0002259 False precocious puberty gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000088 MONDO:0021147 False precocious puberty disorder of development or morphogenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000090 MONDO:0005181 False progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000104 MONDO:0000387 False anemia, hypochromic microcytic with iron overload hypochromic microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000104 MONDO:0003847 False anemia, hypochromic microcytic with iron overload hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000107 MONDO:0007500 False auriculocondylar syndrome ear malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000107 MONDO:0007500 False auriculocondylar syndrome ear malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000108 MONDO:0015979 False bacteremia, susceptibility hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000110 MONDO:0024623 False bifid nose otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000115 MONDO:0003847 False Chiari malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000115 MONDO:0003847 False Chiari malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000118 MONDO:0019288 False reticulate pigment disorder skin pigmentation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000118 MONDO:0100118 False reticulate pigment disorder hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000128 MONDO:0004183 False giant axonal neuropathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000128 MONDO:0004183 False giant axonal neuropathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000128 MONDO:0020127 False giant axonal neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000129 MONDO:0005066 False glutaric aciduria metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000133 MONDO:0100137 False immunodeficiency-centromeric instability-facial anomalies syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000136 MONDO:0006566 False keratosis follicularis spinulosa decalvans keratosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000136 MONDO:0006566 False keratosis follicularis spinulosa decalvans keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000136 MONDO:0800159 False keratosis follicularis spinulosa decalvans disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000137 MONDO:0003847 False leukoencephalopathy, megalencephalic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000137 MONDO:0005560 False leukoencephalopathy, megalencephalic brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18820,74 +18855,74 @@ MONDO:0000152 MONDO:0017578 False thiamine-responsive dysfunction syndrome disor MONDO:0000156 MONDO:0018234 False trigonocephaly dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000158 MONDO:0003847 False developmental dysplasia of the hip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000158 MONDO:0005497 False developmental dysplasia of the hip bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000159 MONDO:0003225 False bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000159 MONDO:0003847 False bone marrow failure syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000160 MONDO:0016022 False epilepsy, familial adult myoclonic early myoclonic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000159 MONDO:0003225 False bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000159 MONDO:0003847 False bone marrow failure syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000160 MONDO:0016022 False epilepsy, familial adult myoclonic early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000166 MONDO:0003847 False encephalopathy, acute, infection-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0005560 False encephalopathy, acute, infection-induced brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0020683 False encephalopathy, acute, infection-induced acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0021669 False encephalopathy, acute, infection-induced post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000169 MONDO:0000062 False microphthalmia, isolated, with cataract isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000170 MONDO:0000062 False microphthalmia, isolated, with coloboma isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000169 MONDO:0000062 False microphthalmia, isolated, with cataract isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000170 MONDO:0000062 False microphthalmia, isolated, with coloboma isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0001476 False microphthalmia, isolated, with coloboma coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000173 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type C muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0002051 False Neu-Laxova syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0002254 False Neu-Laxova syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000179 MONDO:0015327 False Neu-Laxova syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0002254 False Neu-Laxova syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000179 MONDO:0015327 False Neu-Laxova syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0018491 False Neu-Laxova syndrome 3-phosphoglycerate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000181 MONDO:0001149 False microcephaly and chorioretinopathy microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000181 MONDO:0004674 False microcephaly and chorioretinopathy chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000181 MONDO:0100500 False microcephaly and chorioretinopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000182 MONDO:0002320 False congenital myasthenic syndrome with tubular aggregates congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000182 MONDO:0018940 False congenital myasthenic syndrome with tubular aggregates congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000182 MONDO:0018940 False congenital myasthenic syndrome with tubular aggregates congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000188 MONDO:0015653 False GLUT1 deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0019226 False GLUT1 deficiency syndrome glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100033 False GLUT1 deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000190 MONDO:0007263 False ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000190 MONDO:0007263 False ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000192 MONDO:0005336 False polyglucosan body myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000192 MONDO:0700223 False polyglucosan body myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000193 MONDO:0002525 False cortisone reductase deficiency inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000193 MONDO:0005039 False cortisone reductase deficiency reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000193 MONDO:0002525 False cortisone reductase deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000193 MONDO:0005039 False cortisone reductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000200 MONDO:0003847 False Zimmermann-Laband syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000209 MONDO:0002320 False prenatal-onset spinal muscular atrophy with congenital bone fractures congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000210 MONDO:0019052 False thiopurine metabolic disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000211 MONDO:0003122 False striatal degeneration, autosomal dominant striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000212 MONDO:0001566 False hypercalcemia, infantile hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000211 MONDO:0003122 False striatal degeneration, autosomal dominant striatonigral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000212 MONDO:0001566 False hypercalcemia, infantile hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000212 MONDO:0006025 False hypercalcemia, infantile autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000212 MONDO:0019052 False hypercalcemia, infantile inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000212 MONDO:0019052 False hypercalcemia, infantile inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000213 MONDO:0003847 False autoimmune disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000213 MONDO:0007179 False autoimmune disease, multisystem, infantile-onset autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000213 MONDO:0007179 False autoimmune disease, multisystem, infantile-onset autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000222 MONDO:0020683 False seminal vesicle acute gonorrhea acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000225 MONDO:0004805 False human monocytic ehrlichiosis leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000225 MONDO:0004805 False human monocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000229 MONDO:0005677 False Indian tick typhus Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000230 MONDO:0005677 False Israeli tick typhus Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000231 MONDO:0005677 False Far eastern spotted fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000236 MONDO:0020592 False oropharyngeal anthrax disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000236 MONDO:0043424 False oropharyngeal anthrax digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000239 MONDO:0005766 False adiaspiromycosis fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000240 MONDO:0000266 False invasive aspergillosis pulmonary aspergilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000241 MONDO:0004994 False Keshan disease cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000240 MONDO:0000266 False invasive aspergillosis pulmonary aspergilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000241 MONDO:0004994 False Keshan disease cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000241 MONDO:0005721 False Keshan disease coxsackievirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000244 MONDO:0000253 False endothrix infectious disease piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000248 MONDO:0005358 False dengue shock syndrome Dengue hemorrhagic fever UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000248 MONDO:0005358 False dengue shock syndrome Dengue hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000250 MONDO:0045030 False osmotic diarrheal disease non-infectious diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000252 MONDO:0000888 False inflammatory diarrhea gastrointestinal mucositis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000252 MONDO:0002269 False inflammatory diarrhea gastroenteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000252 MONDO:0000888 False inflammatory diarrhea gastrointestinal mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000252 MONDO:0002269 False inflammatory diarrhea gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000253 MONDO:0002917 False piedra disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000253 MONDO:0024268 False piedra superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000253 MONDO:0024481 False piedra skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000254 MONDO:0002051 False cutaneous mycosis integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000255 MONDO:0000254 False subcutaneous mycosis cutaneous mycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000254 MONDO:0002051 False cutaneous mycosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000255 MONDO:0000254 False subcutaneous mycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000257 MONDO:0020683 False acute diarrhea acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000261 MONDO:0001039 False adenoiditis tonsillitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000261 MONDO:0001040 False adenoiditis nasopharyngitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000261 MONDO:0001040 False adenoiditis nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000262 MONDO:0005982 False otomycosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000263 MONDO:0002647 False laryngotracheitis laryngitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000263 MONDO:0005990 False laryngotracheitis tracheitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000263 MONDO:0002647 False laryngotracheitis laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000263 MONDO:0005990 False laryngotracheitis tracheitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000266 MONDO:0005766 False pulmonary aspergilloma fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000271 MONDO:0003619 False tuberculous salpingitis salpingitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000271 MONDO:0003619 False tuberculous salpingitis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000276 MONDO:0005763 False Powassan encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000276 MONDO:0006009 False Powassan encephalitis viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000276 MONDO:0006009 False Powassan encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000276 MONDO:0025294 False Powassan encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000282 MONDO:0100120 False Whitewater Arroyo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000283 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18898,27 +18933,27 @@ MONDO:0000288 MONDO:0043424 False polycystic echinococcosis digestive system inf MONDO:0000290 MONDO:0020067 False primary amebic meningoencephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000291 MONDO:0020067 False granulomatous amebic encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000291 MONDO:0021747 False granulomatous amebic encephalitis Acanthamoeba infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000292 MONDO:0005739 False philophthalmiasis echinostomiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000293 MONDO:0000367 False coenurosis taeniasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000292 MONDO:0005739 False philophthalmiasis echinostomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000293 MONDO:0000367 False coenurosis taeniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000294 MONDO:0042488 False mesocestoidiasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000297 MONDO:0005656 False baylisascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000298 MONDO:0005745 False dioctophymiasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000299 MONDO:0005943 False thelaziasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000301 MONDO:0005805 False ophthalmomyiasis hypodermyiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000302 MONDO:0019136 False basidiobolomycosis Zygomycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000301 MONDO:0005805 False ophthalmomyiasis hypodermyiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000302 MONDO:0019136 False basidiobolomycosis Zygomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000303 MONDO:0005982 False conidiobolomycosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000304 MONDO:0045033 False penicilliosis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000306 MONDO:0045033 False trichosporonosis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000310 MONDO:0100120 False Alkhurma hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000320 MONDO:0004928 False glandular tularemia lymph node disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000327 MONDO:0020590 False Buruli ulcer disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000320 MONDO:0004928 False glandular tularemia lymph node disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000327 MONDO:0020590 False Buruli ulcer disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000331 MONDO:0025294 False Rickettsia helvetica spotted fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000332 MONDO:0024416 False sennetsu fever Neorickettsia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000334 MONDO:0003847 False multinodular goiter hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000334 MONDO:0006869 False multinodular goiter nodular goiter UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000337 MONDO:0006547 False exanthema subitum exanthem UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000334 MONDO:0003847 False multinodular goiter hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000334 MONDO:0006869 False multinodular goiter nodular goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000337 MONDO:0006547 False exanthema subitum exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000337 MONDO:0024294 False exanthema subitum skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000338 MONDO:0006547 False variola major infectious disease exanthem UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000338 MONDO:0006547 False variola major infectious disease exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000338 MONDO:0024294 False variola major infectious disease skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000342 MONDO:0005643 False O'nyong'nyong fever Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000342 MONDO:0100120 False O'nyong'nyong fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18930,214 +18965,214 @@ MONDO:0000345 MONDO:0100120 False Oropouche fever vector-borne disease UNSUPPORT MONDO:0000346 MONDO:0100120 False Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000351 MONDO:0019222 False disorder of methionine catabolism inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000351 MONDO:0037938 False disorder of methionine catabolism inborn disorder of aspartate family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000355 MONDO:0019952 False Ullrich congenital muscular dystrophy congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000358 MONDO:0003847 False orofacial cleft hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000355 MONDO:0019952 False Ullrich congenital muscular dystrophy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0000358 MONDO:0003847 False orofacial cleft hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000358 MONDO:0023369 False orofacial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000359 MONDO:0003847 False spondylocostal dysostosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000365 MONDO:0020366 False primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000359 MONDO:0003847 False spondylocostal dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000365 MONDO:0020366 False primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000367 MONDO:0024271 False taeniasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000367 MONDO:0042488 False taeniasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000373 MONDO:0003220 False gall bladder carcinoma in situ gallbladder carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000374 MONDO:0004715 False bile duct carcinoma in situ liver carcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000374 MONDO:0005496 False bile duct carcinoma in situ bile duct carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000375 MONDO:0002806 False bronchus carcinoma in situ bronchogenic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000375 MONDO:0004660 False bronchus carcinoma in situ lung carcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000377 MONDO:0002149 False malignant Leydig cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000378 MONDO:0002149 False malignant Sertoli cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000380 MONDO:0002415 False paranasal sinus carcinoma bone carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000373 MONDO:0003220 False gall bladder carcinoma in situ gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000374 MONDO:0004715 False bile duct carcinoma in situ liver carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000374 MONDO:0005496 False bile duct carcinoma in situ bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000375 MONDO:0002806 False bronchus carcinoma in situ bronchogenic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000375 MONDO:0004660 False bronchus carcinoma in situ lung carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000377 MONDO:0002149 False malignant Leydig cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000378 MONDO:0002149 False malignant Sertoli cell tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000380 MONDO:0002415 False paranasal sinus carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000381 MONDO:0004010 False infiltrating renal pelvis transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000387 MONDO:0001357 False hypochromic microcytic anemia hypochromic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000389 MONDO:0003847 False atelosteogenesis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000390 MONDO:0020242 False vitelliform macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000387 MONDO:0001357 False hypochromic microcytic anemia hypochromic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000389 MONDO:0003847 False atelosteogenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000390 MONDO:0020242 False vitelliform macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000405 MONDO:0024634 False anal canal cancer large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000407 MONDO:0021041 False malignant pleural solitary fibrous tumor pleural solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000408 MONDO:0002326 False fetal alcohol spectrum disorder alcohol-induced mental disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000408 MONDO:0002326 False fetal alcohol spectrum disorder alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000408 MONDO:0021699 False fetal alcohol spectrum disorder alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000409 MONDO:0005113 False chorioamnionitis bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000409 MONDO:0021166 False chorioamnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000409 MONDO:0005113 False chorioamnionitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000409 MONDO:0021166 False chorioamnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000409 MONDO:0045013 False chorioamnionitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000410 MONDO:0021562 False funisitis omphalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000410 MONDO:0024575 False funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000410 MONDO:0021562 False funisitis omphalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000410 MONDO:0024575 False funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000421 MONDO:0019239 False inborn serine deficiency inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000424 MONDO:0020696 False inborn vitamin B12 deficiency vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000437 MONDO:0005395 False cerebellar ataxia movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000437 MONDO:0005395 False cerebellar ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000437 MONDO:0100308 False cerebellar ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000440 MONDO:0006022 False metabolic acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000448 MONDO:0021635 False paraganglioma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000450 MONDO:0005284 False secondary progressive multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000451 MONDO:0005284 False primary progressive multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000452 MONDO:0005284 False progressive relapsing multiple sclerosis chronic progressive multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000453 MONDO:0003847 False short QT syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000453 MONDO:0003847 False short QT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000455 MONDO:0020242 False cone dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0015653 False cerebral creatine deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0019189 False cerebral creatine deficiency syndrome inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000456 MONDO:0015653 False cerebral creatine deficiency syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000456 MONDO:0019189 False cerebral creatine deficiency syndrome inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0045022 False cerebral creatine deficiency syndrome disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0100033 False cerebral creatine deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0020699 False nutritional biotin deficiency biotin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0024298 False nutritional biotin deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000462 MONDO:0002022 False eye adnexa disorder disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000465 MONDO:0008848 False atrioventricular block atrioventricular dissociation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000466 MONDO:0007263 False first-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000467 MONDO:0007263 False second-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000468 MONDO:0007263 False third-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000466 MONDO:0007263 False first-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000467 MONDO:0007263 False second-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000468 MONDO:0007263 False third-degree atrioventricular block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000469 MONDO:0005449 False sinoatrial node disorder conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000474 MONDO:0005267 False pericardium disorder heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000474 MONDO:0005267 False pericardium disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000480 MONDO:0020120 False anismus skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000485 MONDO:0004382 False spasmodic dystonia laryngeal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000485 MONDO:0004382 False spasmodic dystonia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000488 MONDO:0021303 False periampullary adenoma adenoma of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000488 MONDO:0021375 False periampullary adenoma tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000490 MONDO:0019722 False glomerulosclerosis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000494 MONDO:0000490 False renal fibrosis glomerulosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000497 MONDO:0021166 False pyometritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000498 MONDO:0008538 False arteritic anterior ischemic optic neuropathy temporal arteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000502 MONDO:0024276 False villous adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000507 MONDO:0017276 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia frontotemporal dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000508 MONDO:0002254 False syndromic intellectual disability syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000510 MONDO:0019052 False synucleinopathy inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000490 MONDO:0019722 False glomerulosclerosis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000494 MONDO:0000490 False renal fibrosis glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000497 MONDO:0021166 False pyometritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000498 MONDO:0008538 False arteritic anterior ischemic optic neuropathy temporal arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000502 MONDO:0024276 False villous adenoma glandular cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000507 MONDO:0017276 False inclusion body myopathy with Paget disease of bone and frontotemporal dementia frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000508 MONDO:0002254 False syndromic intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000510 MONDO:0019052 False synucleinopathy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000510 MONDO:0021179 False synucleinopathy proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000510 MONDO:0024237 False synucleinopathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000513 MONDO:0017795 False bone ameloblastoma ameloblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000513 MONDO:0017795 False bone ameloblastoma ameloblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000517 MONDO:0021228 False brain stem medulloblastoma brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000519 MONDO:0002731 False corpus callosum oligodendroglioma cerebral hemisphere cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000520 MONDO:0004245 False parietal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000521 MONDO:0044925 False salivary gland carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000524 MONDO:0003113 False mixed extragonadal germ cell cancer extragonadal germ cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000519 MONDO:0002731 False corpus callosum oligodendroglioma cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000520 MONDO:0004245 False parietal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000521 MONDO:0044925 False salivary gland carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000524 MONDO:0003113 False mixed extragonadal germ cell cancer extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000527 MONDO:0024479 False colon adenoma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000530 MONDO:0024476 False rectum adenoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000531 MONDO:0002806 False bronchus mucoepidermoid carcinoma bronchogenic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000531 MONDO:0005616 False bronchus mucoepidermoid carcinoma pulmonary mucoepidermoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000532 MONDO:0005061 False lung combined type small cell adenocarcinoma lung adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000534 MONDO:0003184 False trachea mucoepidermoid carcinoma trachea carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000531 MONDO:0002806 False bronchus mucoepidermoid carcinoma bronchogenic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000531 MONDO:0005616 False bronchus mucoepidermoid carcinoma pulmonary mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000532 MONDO:0005061 False lung combined type small cell adenocarcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000534 MONDO:0003184 False trachea mucoepidermoid carcinoma trachea carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000535 MONDO:0021337 False tonsil squamous cell carcinoma tonsil carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000535 MONDO:0044704 False tonsil squamous cell carcinoma oropharynx squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000539 MONDO:0002728 False striated muscle rhabdoid tumor rhabdoid tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000543 MONDO:0005191 False ovarian melanoma metastatic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000539 MONDO:0002728 False striated muscle rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000543 MONDO:0005191 False ovarian melanoma metastatic melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000545 MONDO:0021070 False sublingual gland adenoid cystic carcinoma sublingual gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000545 MONDO:0045063 False sublingual gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000549 MONDO:0021351 False cervical neuroblastoma neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000551 MONDO:0005072 False retroperitoneal neuroblastoma neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000551 MONDO:0005072 False retroperitoneal neuroblastoma neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000551 MONDO:0024645 False retroperitoneal neuroblastoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000553 MONDO:0002447 False uterine corpus endometrial carcinoma endometrial carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000577 MONDO:0002280 False congenital anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000577 MONDO:0009332 False congenital anemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000553 MONDO:0002447 False uterine corpus endometrial carcinoma endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000577 MONDO:0002280 False congenital anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000577 MONDO:0009332 False congenital anemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000587 MONDO:0024623 False autoimmune disease of ear, nose and throat otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000594 MONDO:0100038 False pervasive developmental disorder complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000596 MONDO:0000947 False paraphilic disorder psychosexual disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000602 MONDO:0005570 False autoimmune disorder of blood hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000596 MONDO:0000947 False paraphilic disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000602 MONDO:0005570 False autoimmune disorder of blood hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000608 MONDO:0100191 False familial juvenile hyperuricemic nephropathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000610 MONDO:0000831 False marantic endocarditis thrombotic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000610 MONDO:0001531 False marantic endocarditis blood coagulation disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000610 MONDO:0000831 False marantic endocarditis thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000610 MONDO:0001531 False marantic endocarditis blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000611 MONDO:0021074 False pre-malignant neoplasm precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000615 MONDO:0006116 False progesterone-receptor positive breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000616 MONDO:0006116 False progesterone-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000618 MONDO:0006116 False Her2-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000626 MONDO:0000643 False vestibular gland benign neoplasm vulvar benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000618 MONDO:0006116 False Her2-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000626 MONDO:0000643 False vestibular gland benign neoplasm vulvar benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000628 MONDO:0006130 False central nervous system organ benign neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000629 MONDO:0024757 False cardiovascular organ benign neoplasm cardiovascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000630 MONDO:0005046 False immune system organ benign neoplasm immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000639 MONDO:0002129 False cartilage cancer bone cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000640 MONDO:0005462 False central nervous system primitive neuroectodermal neoplasm primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000630 MONDO:0005046 False immune system organ benign neoplasm immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000639 MONDO:0002129 False cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000640 MONDO:0005462 False central nervous system primitive neuroectodermal neoplasm primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000642 MONDO:0021211 False brain meningioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000660 MONDO:0005084 False akinetopsia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000660 MONDO:0019056 False akinetopsia neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000664 MONDO:0000685 False apperceptive agnosia visual agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000660 MONDO:0019056 False akinetopsia neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000664 MONDO:0000685 False apperceptive agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000665 MONDO:0024417 False apraxia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000666 MONDO:0000685 False associative visual agnosia visual agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000666 MONDO:0000685 False associative visual agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000667 MONDO:0024422 False auditory agnosia auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000669 MONDO:0000685 False color agnosia visual agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000670 MONDO:0000667 False cortical deafness auditory agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000672 MONDO:0000685 False form agnosia visual agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000669 MONDO:0000685 False color agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000670 MONDO:0000667 False cortical deafness auditory agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000672 MONDO:0000685 False form agnosia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000675 MONDO:0005084 False pain agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000681 MONDO:0005084 False tactile agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000684 MONDO:0000667 False verbal auditory agnosia auditory agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000684 MONDO:0000667 False verbal auditory agnosia auditory agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000685 MONDO:0005084 False visual agnosia mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000685 MONDO:0021084 False visual agnosia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000685 MONDO:0021084 False visual agnosia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000698 MONDO:0019189 False gamma-amino butyric acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000698 MONDO:0037871 False gamma-amino butyric acid metabolism disorder amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000700 MONDO:0003847 False familial hemiplegic migraine hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000700 MONDO:0003847 False familial hemiplegic migraine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000700 MONDO:0018925 False familial hemiplegic migraine familial or sporadic hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000701 MONDO:0005385 False ischemic colitis vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000705 MONDO:0005113 False Clostridium difficile colitis bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000705 MONDO:0006039 False Clostridium difficile colitis infectious colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000708 MONDO:0000709 False Crohn jejunoileitis Crohn ileitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000701 MONDO:0005385 False ischemic colitis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000705 MONDO:0005113 False Clostridium difficile colitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000705 MONDO:0006039 False Clostridium difficile colitis infectious colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000708 MONDO:0000709 False Crohn jejunoileitis Crohn ileitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000708 MONDO:0021207 False Crohn jejunoileitis Crohn jejunitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000709 MONDO:0005539 False Crohn ileitis small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000710 MONDO:0004627 False gastroduodenal Crohn disease duodenitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000710 MONDO:0004966 False gastroduodenal Crohn disease gastritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000710 MONDO:0004627 False gastroduodenal Crohn disease duodenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000710 MONDO:0004966 False gastroduodenal Crohn disease gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000710 MONDO:0005539 False gastroduodenal Crohn disease small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000715 MONDO:0004971 False lymph node adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000715 MONDO:0004971 False lymph node adenoid cystic carcinoma adenoid cystic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000721 MONDO:0005066 False xanthinuria metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000722 MONDO:0019530 False non-syndromic synpolydactyly non-syndromic syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000722 MONDO:0021651 False non-syndromic synpolydactyly synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000723 MONDO:0003847 False stutter disorder hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000723 MONDO:0004750 False stutter disorder language disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000724 MONDO:0003847 False specific language impairment hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000723 MONDO:0003847 False stutter disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000723 MONDO:0004750 False stutter disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000724 MONDO:0003847 False specific language impairment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000726 MONDO:0700007 False idiopathic scoliosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000727 MONDO:0016830 False scapuloperoneal myopathy Emery-Dreifuss muscular dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000727 MONDO:0016830 False scapuloperoneal myopathy Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000732 MONDO:0016387 False combined oxidative phosphorylation deficiency mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000733 MONDO:0003847 False cornea plana hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000733 MONDO:0003847 False cornea plana hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000734 MONDO:0017393 False Ohdo syndrome and variants blepharophimosis - intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000736 MONDO:0100118 False dyschromatosis universalis hereditaria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000739 MONDO:0006858 False uvulitis mouth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000739 MONDO:0021166 False uvulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000740 MONDO:0006858 False adenoid hypertrophy mouth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000739 MONDO:0006858 False uvulitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000739 MONDO:0021166 False uvulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000740 MONDO:0006858 False adenoid hypertrophy mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000743 MONDO:0021674 False oral hairy leukoplakia post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000744 MONDO:0005227 False lung abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000744 MONDO:0005227 False lung abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000744 MONDO:0024355 False lung abscess respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000745 MONDO:0007263 False cardiac arrest cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000748 MONDO:0021166 False mastoiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000748 MONDO:0021166 False mastoiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000749 MONDO:0005227 False breast abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000751 MONDO:0004701 False cervical polyp uterine polyp UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000751 MONDO:0004701 False cervical polyp uterine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000757 MONDO:0024651 False glucocorticoid-induced osteoporosis corticosteroid-induced osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000758 MONDO:0021440 False bacillary angiomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000758 MONDO:0021440 False bacillary angiomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000758 MONDO:0024295 False bacillary angiomatosis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000758 MONDO:0024461 False bacillary angiomatosis angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000764 MONDO:0003847 False epithelial-stromal TGFBI dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000771 MONDO:0005087 False allergic respiratory disease respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000774 MONDO:0005244 False autoimmune neuropathy peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000809 MONDO:0001243 False purpura fulminans disseminated intravascular coagulation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000758 MONDO:0024461 False bacillary angiomatosis angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000764 MONDO:0003847 False epithelial-stromal TGFBI dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000771 MONDO:0005087 False allergic respiratory disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000774 MONDO:0005244 False autoimmune neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000809 MONDO:0001243 False purpura fulminans disseminated intravascular coagulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000812 MONDO:0005172 False vertebral column disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000813 MONDO:0000368 False cardiac tuberculosis extrapulmonary tuberculosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000816 MONDO:0003916 False abdominal obesity-metabolic syndrome overnutrition UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000816 MONDO:0019052 False abdominal obesity-metabolic syndrome inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000819 MONDO:0003847 False anencephaly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000820 MONDO:0002320 False cerebral cavernous malformation congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000824 MONDO:0003847 False congenital diarrhea hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000813 MONDO:0000368 False cardiac tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000816 MONDO:0003916 False abdominal obesity-metabolic syndrome overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000816 MONDO:0019052 False abdominal obesity-metabolic syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000819 MONDO:0003847 False anencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000820 MONDO:0002320 False cerebral cavernous malformation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000824 MONDO:0003847 False congenital diarrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000840 MONDO:0018373 False dysbaric osteonecrosis avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000863 MONDO:0000577 False myopathy, lactic acidosis, and sideroblastic anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000870 MONDO:0003659 False childhood acute lymphoblastic leukemia pediatric lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000878 MONDO:0005132 False cytomegalovirus retinitis cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000878 MONDO:0016047 False cytomegalovirus retinitis endophthalmitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000878 MONDO:0020010 False cytomegalovirus retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000870 MONDO:0003659 False childhood acute lymphoblastic leukemia pediatric lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000878 MONDO:0005132 False cytomegalovirus retinitis cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000878 MONDO:0016047 False cytomegalovirus retinitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000878 MONDO:0020010 False cytomegalovirus retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000878 MONDO:0020950 False cytomegalovirus retinitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000879 MONDO:0005982 False cutaneous candidiasis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000888 MONDO:0020579 False gastrointestinal mucositis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000888 MONDO:0020579 False gastrointestinal mucositis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000889 MONDO:0006926 False haemophilus meningitis haemophilus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000890 MONDO:0005108 False Zika virus congenital syndrome viral infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000890 MONDO:0005108 False Zika virus congenital syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000890 MONDO:0021670 False Zika virus congenital syndrome post-infectious syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0021674 False Zika virus congenital syndrome post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000890 MONDO:0100120 False Zika virus congenital syndrome vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000894 MONDO:0027772 False mucinous bronchioloalveolar adenocarcinoma lung colloid adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000898 MONDO:0006500 False malignant hemangioma hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000902 MONDO:0024237 False agenesis of the corpus callosum with peripheral neuropathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000894 MONDO:0027772 False mucinous bronchioloalveolar adenocarcinoma lung colloid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000898 MONDO:0006500 False malignant hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000902 MONDO:0024237 False agenesis of the corpus callosum with peripheral neuropathy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000904 MONDO:0021147 False complex cortical dysplasia with other brain malformations disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000909 MONDO:0019524 False Bartter disease type 4B Bartter syndrome type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000910 MONDO:0020605 False retinitis pigmentosa 6 X-linked recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000916 MONDO:0000888 False intestinal infectious disease gastrointestinal mucositis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000916 MONDO:0002269 False intestinal infectious disease gastroenteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000910 MONDO:0020605 False retinitis pigmentosa 6 X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000916 MONDO:0000888 False intestinal infectious disease gastrointestinal mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000916 MONDO:0002269 False intestinal infectious disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000916 MONDO:0043424 False intestinal infectious disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000918 MONDO:0020579 False endometritis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000919 MONDO:0021321 False ampulla of vater cancer malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000921 MONDO:0006709 False ampulla of vater neoplasm common bile duct neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000921 MONDO:0021375 False ampulla of vater neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000922 MONDO:0021166 False pelvic inflammatory disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000925 MONDO:0004849 False hyperlucent lung pulmonary emphysema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000918 MONDO:0020579 False endometritis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000919 MONDO:0021321 False ampulla of vater cancer malignant tumor of extrahepatic bile duct UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000921 MONDO:0006709 False ampulla of vater neoplasm common bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000921 MONDO:0021375 False ampulla of vater neoplasm tumor of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000922 MONDO:0021166 False pelvic inflammatory disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000925 MONDO:0004849 False hyperlucent lung pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000936 MONDO:0007000 False syphilitic meningitis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000936 MONDO:0041825 False syphilitic meningitis bacterial meningitis caused by gram-negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000937 MONDO:0007000 False syphilitic encephalitis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000937 MONDO:0020067 False syphilitic encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000939 MONDO:0005227 False intracranial abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000939 MONDO:0024619 False intracranial abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000939 MONDO:0005227 False intracranial abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000939 MONDO:0024619 False intracranial abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000941 MONDO:0003382 False eyelid degenerative disorder eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000941 MONDO:0004884 False eyelid degenerative disorder eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000943 MONDO:0020683 False acute hydrops keratoconus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19147,100 +19182,100 @@ MONDO:0000946 MONDO:0021723 False psychologic vaginismus vaginismus UNSUPPORTED- MONDO:0000947 MONDO:0005084 False psychosexual disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000950 MONDO:0005328 False asthenopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000954 MONDO:0021082 False Meckel diverticulum cancer Meckel diverticulum neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000955 MONDO:0006801 False ileum cancer ileal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000958 MONDO:0002122 False neuroretinitis neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000958 MONDO:0003579 False neuroretinitis retinal nerve fiber layer disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000958 MONDO:0006879 False neuroretinitis optic papillitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000959 MONDO:0006846 False malignant hypertensive renal disease malignant hypertension UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000955 MONDO:0006801 False ileum cancer ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000958 MONDO:0002122 False neuroretinitis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000958 MONDO:0003579 False neuroretinitis retinal nerve fiber layer disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000958 MONDO:0006879 False neuroretinitis optic papillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000959 MONDO:0006846 False malignant hypertensive renal disease malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000959 MONDO:0024633 False malignant hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000962 MONDO:0020664 False spindle cell lipoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000978 MONDO:0000965 False extrahepatic bile duct lipoma liver lipoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000979 MONDO:0007000 False pinta disease Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000962 MONDO:0020664 False spindle cell lipoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000978 MONDO:0000965 False extrahepatic bile duct lipoma liver lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000979 MONDO:0007000 False pinta disease Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000979 MONDO:0024295 False pinta disease skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000980 MONDO:0005561 False aortic atherosclerosis aortic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000981 MONDO:0018312 False Histoplasma pericarditis histoplasmosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000984 MONDO:0019050 False thalassemia inherited hemoglobinopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000986 MONDO:0043786 False pleurisy serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000980 MONDO:0005561 False aortic atherosclerosis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000981 MONDO:0018312 False Histoplasma pericarditis histoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000984 MONDO:0019050 False thalassemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000986 MONDO:0043786 False pleurisy serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000989 MONDO:0005896 False mumps infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000990 MONDO:0003674 False acute subendocardial myocardial infarction subendocardial myocardial infarction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000994 MONDO:0006295 False malignant prostate phyllodes tumor malignant urinary system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000995 MONDO:0016122 False familial periodic paralysis periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001005 MONDO:0001000 False kaolin pneumoconiosis mixed mineral dust pneumoconiosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001006 MONDO:0005041 False glaucomatous atrophy of optic disk glaucoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000990 MONDO:0003674 False acute subendocardial myocardial infarction subendocardial myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000994 MONDO:0006295 False malignant prostate phyllodes tumor malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000995 MONDO:0016122 False familial periodic paralysis periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001005 MONDO:0001000 False kaolin pneumoconiosis mixed mineral dust pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001006 MONDO:0005041 False glaucomatous atrophy of optic disk glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001007 MONDO:0021108 False chronic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001020 MONDO:0021084 False amblyopia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001023 MONDO:0004967 False prolymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001020 MONDO:0021084 False amblyopia vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001023 MONDO:0004967 False prolymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001024 MONDO:0024355 False pneumonic plague respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001028 MONDO:0020683 False acute pericementitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001029 MONDO:0003847 False Klippel-Feil syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001029 MONDO:0003847 False Klippel-Feil syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001031 MONDO:0020683 False purulent acute otitis media acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001036 MONDO:0017210 False hypopyon infectious anterior uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001039 MONDO:0020592 False tonsillitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001039 MONDO:0021166 False tonsillitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001036 MONDO:0017210 False hypopyon infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001039 MONDO:0020592 False tonsillitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001039 MONDO:0021166 False tonsillitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001039 MONDO:0044986 False tonsillitis lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001040 MONDO:0021166 False nasopharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001040 MONDO:0021166 False nasopharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001042 MONDO:0005172 False patellar tendinitis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001046 MONDO:0021147 False imperforate anus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001051 MONDO:0020683 False acute otitis externa acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001053 MONDO:0001051 False acute infection of pinna acute otitis externa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001055 MONDO:0000949 False conjunctival pterygium conjunctival degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001053 MONDO:0001051 False acute infection of pinna acute otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001055 MONDO:0000949 False conjunctival pterygium conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001064 MONDO:0020683 False acute eustachian salpingitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001065 MONDO:0005468 False supine hypotensive syndrome hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001066 MONDO:0006718 False late yaws cutaneous syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001068 MONDO:0800486 False osteomalacia metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001068 MONDO:0800486 False osteomalacia metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001073 MONDO:0700007 False idiopathic progressive polyneuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001074 MONDO:0005395 False chronic tic disorder movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001075 MONDO:0005020 False steatorrhea intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001074 MONDO:0005395 False chronic tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001075 MONDO:0005020 False steatorrhea intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001076 MONDO:0011731 False glucose intolerance glucose-galactose malabsorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001078 MONDO:0020598 False tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001078 MONDO:0020598 False tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001079 MONDO:0001075 False pancreatic steatorrhea steatorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001080 MONDO:0021157 False acute gonococcal cervicitis gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001081 MONDO:0020683 False acute cervicitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001083 MONDO:0002254 False Fanconi renotubular syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001083 MONDO:0002254 False Fanconi renotubular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001083 MONDO:0021568 False Fanconi renotubular syndrome renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001090 MONDO:0006652 False acute anterolateral myocardial infarction anterolateral myocardial infarction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001090 MONDO:0006652 False acute anterolateral myocardial infarction anterolateral myocardial infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001093 MONDO:0024479 False colonic lymphangioma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001096 MONDO:0001095 False mediastinum ganglioneuroblastoma mediastinum neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001096 MONDO:0001095 False mediastinum ganglioneuroblastoma mediastinum neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001099 MONDO:0045019 False lactocele lactation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001103 MONDO:0024270 False giardiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001108 MONDO:0000637 False broad ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001108 MONDO:0000637 False broad ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001108 MONDO:0045043 False broad ligament malignant neoplasm disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001109 MONDO:0021166 False petrositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001109 MONDO:0024654 False petrositis skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001110 MONDO:0005300 False chronic pyelonephritis chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001115 MONDO:0003847 False familial polycythemia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001110 MONDO:0005300 False chronic pyelonephritis chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001115 MONDO:0003847 False familial polycythemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001117 MONDO:0044348 False methemoglobinemia hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001118 MONDO:0025294 False Queensland tick typhus tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001119 MONDO:0005387 False premature menopause primary ovarian failure UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001120 MONDO:0006031 False chronic frontal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001122 MONDO:0006031 False chronic maxillary sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001123 MONDO:0006031 False chronic sphenoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001119 MONDO:0005387 False premature menopause primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001120 MONDO:0006031 False chronic frontal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001122 MONDO:0006031 False chronic maxillary sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001123 MONDO:0006031 False chronic sphenoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001125 MONDO:0020683 False acute gonococcal epididymo-orchitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001125 MONDO:0021158 False acute gonococcal epididymo-orchitis gonococcal epididymo-orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001126 MONDO:0004298 False gastric ulcer stomach disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001128 MONDO:0000649 False nasal cavity cancer sensory system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001133 MONDO:0006846 False malignant essential hypertension malignant hypertension UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001136 MONDO:0002329 False chylocele of tunica vaginalis testicular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001126 MONDO:0004298 False gastric ulcer stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001128 MONDO:0000649 False nasal cavity cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001133 MONDO:0006846 False malignant essential hypertension malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001136 MONDO:0002329 False chylocele of tunica vaginalis testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001137 MONDO:0005763 False Murray valley encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001137 MONDO:0100120 False Murray valley encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001144 MONDO:0001309 False partial third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001145 MONDO:0001309 False total third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001146 MONDO:0002782 False fourth cranial nerve palsy cranial nerve palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001146 MONDO:0007002 False fourth cranial nerve palsy trochlear nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001147 MONDO:0002320 False meningocele congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001144 MONDO:0001309 False partial third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001145 MONDO:0001309 False total third-nerve palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001146 MONDO:0002782 False fourth cranial nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001146 MONDO:0007002 False fourth cranial nerve palsy trochlear nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001147 MONDO:0002320 False meningocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001149 MONDO:0021147 False microcephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001149 MONDO:0700092 False microcephaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001166 MONDO:0021166 False nephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001149 MONDO:0700092 False microcephaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001166 MONDO:0021166 False nephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001170 MONDO:0006496 False hemiplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001171 MONDO:0001173 False acute salpingo-oophoritis acute salpingitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001172 MONDO:0003619 False salpingo-oophoritis salpingitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001171 MONDO:0001173 False acute salpingo-oophoritis acute salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001172 MONDO:0003619 False salpingo-oophoritis salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001173 MONDO:0020683 False acute salpingitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001174 MONDO:0005552 False conjunctival vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001178 MONDO:0000949 False pseudopterygium conjunctival degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001180 MONDO:0002261 False bullous keratopathy keratopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001174 MONDO:0005552 False conjunctival vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001178 MONDO:0000949 False pseudopterygium conjunctival degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001180 MONDO:0002261 False bullous keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001182 MONDO:0700007 False idiopathic corneal edema idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001184 MONDO:0005300 False chronic rapidly progressive glomerulonephritis chronic kidney disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001184 MONDO:0017236 False chronic rapidly progressive glomerulonephritis rapidly progressive glomerulonephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001184 MONDO:0005300 False chronic rapidly progressive glomerulonephritis chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001184 MONDO:0017236 False chronic rapidly progressive glomerulonephritis rapidly progressive glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001195 MONDO:0006927 False spotted fever Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001195 MONDO:0100120 False spotted fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001196 MONDO:0700057 False psychologic dyspareunia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19248,224 +19283,224 @@ MONDO:0001197 MONDO:0002245 False qualitative platelet defect blood platelet dis MONDO:0001203 MONDO:0024625 False prolapse of lacrimal gland disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001207 MONDO:0001208 False neonatal respiratory failure acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001208 MONDO:0020683 False acute respiratory failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001208 MONDO:0021113 False acute respiratory failure respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001208 MONDO:0021113 False acute respiratory failure respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001209 MONDO:0024294 False common wart skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001211 MONDO:0001309 False total internal ophthalmoplegia oculomotor nerve paralysis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001211 MONDO:0001309 False total internal ophthalmoplegia oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001213 MONDO:0021203 False serous glue ear serous otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001213 MONDO:0021206 False serous glue ear chronic non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001214 MONDO:0020683 False acute conjunctivitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001217 MONDO:0006668 False pseudomembranous conjunctivitis bacterial conjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001217 MONDO:0006668 False pseudomembranous conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001218 MONDO:0020683 False acute laryngopharyngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001221 MONDO:0008638 False esophageal varices varicose disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001222 MONDO:0003780 False congenital T-cell immunodeficiency T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001224 MONDO:0001214 False Angelucci syndrome acute conjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001221 MONDO:0008638 False esophageal varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001222 MONDO:0003780 False congenital T-cell immunodeficiency T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001224 MONDO:0001214 False Angelucci syndrome acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001227 MONDO:0021204 False chronic tympanitis chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001227 MONDO:0024616 False chronic tympanitis tympanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001229 MONDO:0024635 False small intestine diverticulitis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001230 MONDO:0020683 False acute orbital inflammation acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001231 MONDO:0004934 False orbital periostitis periostitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001235 MONDO:0002033 False appendix cancer cecum cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001236 MONDO:0005694 False appendiceal neoplasm cecal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001236 MONDO:0056798 False appendiceal neoplasm disorder of appendix UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001237 MONDO:0002034 False appendix lymphoma cecum lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001244 MONDO:0024298 False vitamin K deficiency hemorrhagic disease vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001231 MONDO:0004934 False orbital periostitis periostitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001235 MONDO:0002033 False appendix cancer cecum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001236 MONDO:0005694 False appendiceal neoplasm cecal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001236 MONDO:0056798 False appendiceal neoplasm disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001237 MONDO:0002034 False appendix lymphoma cecum lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001244 MONDO:0024298 False vitamin K deficiency hemorrhagic disease vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001246 MONDO:0006927 False typhus Rickettsiaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001246 MONDO:0100120 False typhus vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001249 MONDO:0005701 False trachoma chlamydia trachomatis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001251 MONDO:0005593 False chronic apical periodontitis chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001249 MONDO:0005701 False trachoma chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001251 MONDO:0005593 False chronic apical periodontitis chronic periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001258 MONDO:0020673 False vertebral artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001260 MONDO:0021201 False cercarial dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001260 MONDO:0021201 False cercarial dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001260 MONDO:0024610 False cercarial dermatitis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001262 MONDO:0002099 False African histoplasmosis Histoplasma capsulatum infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001263 MONDO:0002099 False histoplasmosis retinitis Histoplasma capsulatum infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001263 MONDO:0016047 False histoplasmosis retinitis endophthalmitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001262 MONDO:0002099 False African histoplasmosis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001263 MONDO:0002099 False histoplasmosis retinitis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001263 MONDO:0016047 False histoplasmosis retinitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001263 MONDO:0020010 False histoplasmosis retinitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001263 MONDO:0020944 False histoplasmosis retinitis fungal infection of eye UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0021201 False erysipelas skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0021680 False erysipelas streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001266 MONDO:0024295 False erysipelas skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001270 MONDO:0006678 False stone in bladder diverticulum bladder calculus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001277 MONDO:0003346 False cerebral arteritis central nervous system vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001270 MONDO:0006678 False stone in bladder diverticulum bladder calculus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001277 MONDO:0003346 False cerebral arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001277 MONDO:0043494 False cerebral arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001280 MONDO:0006918 False choroiditis posterior uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001280 MONDO:0018882 False choroiditis vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001290 MONDO:0004980 False allergic cutaneous vasculitis atopic eczema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001290 MONDO:0020576 False allergic cutaneous vasculitis cutaneous vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001292 MONDO:0002602 False autonomic nervous system disorder central nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001280 MONDO:0006918 False choroiditis posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001280 MONDO:0018882 False choroiditis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001290 MONDO:0004980 False allergic cutaneous vasculitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001290 MONDO:0020576 False allergic cutaneous vasculitis cutaneous vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001292 MONDO:0002602 False autonomic nervous system disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001295 MONDO:0700007 False idiopathic peripheral autonomic neuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001298 MONDO:0020674 False congenital mitral valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001299 MONDO:0006626 False diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001299 MONDO:0006626 False diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001304 MONDO:0024633 False benign hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001307 MONDO:0005227 False corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001307 MONDO:0023865 False corneal abscess corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001307 MONDO:0005227 False corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001307 MONDO:0023865 False corneal abscess corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001309 MONDO:0024458 False oculomotor nerve paralysis disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001313 MONDO:0021202 False acute allergic serous otitis media allergic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001314 MONDO:0005066 False chondrocalcinosis metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001314 MONDO:0800486 False chondrocalcinosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001315 MONDO:0005618 False neurocirculatory asthenia anxiety disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001314 MONDO:0005066 False chondrocalcinosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001314 MONDO:0800486 False chondrocalcinosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001315 MONDO:0005618 False neurocirculatory asthenia anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001316 MONDO:0021680 False streptococcal meningitis streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001323 MONDO:0001571 False infant gynecomastia gynecomastia disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001323 MONDO:0001571 False infant gynecomastia gynecomastia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001328 MONDO:0045046 False thyroid hormone resistance syndrome inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001330 MONDO:0004892 False presbyopia refractive error UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001332 MONDO:0002254 False palindromic rheumatism syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001332 MONDO:0003366 False palindromic rheumatism hydrarthrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001332 MONDO:0005554 False palindromic rheumatism rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001330 MONDO:0004892 False presbyopia refractive error UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001332 MONDO:0002254 False palindromic rheumatism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001332 MONDO:0003366 False palindromic rheumatism hydrarthrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001332 MONDO:0005554 False palindromic rheumatism rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001336 MONDO:0021187 False familial hyperlipidemia hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001338 MONDO:0001028 False acute apical periodontitis acute pericementitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001338 MONDO:0001028 False acute apical periodontitis acute pericementitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001343 MONDO:0005240 False impaired renal function disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001347 MONDO:0100137 False facioscapulohumeral muscular dystrophy telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001350 MONDO:0001108 False parametrium malignant neoplasm broad ligament malignant neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001352 MONDO:0000637 False round ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001352 MONDO:0002087 False round ligament malignant neoplasm peritoneum cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001347 MONDO:0100137 False facioscapulohumeral muscular dystrophy telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001350 MONDO:0001108 False parametrium malignant neoplasm broad ligament malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001352 MONDO:0000637 False round ligament malignant neoplasm musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001352 MONDO:0002087 False round ligament malignant neoplasm peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001352 MONDO:0045044 False round ligament malignant neoplasm ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001353 MONDO:0037872 False Bordetella parapertussis infectious disease bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001355 MONDO:0001436 False ocular siderosis hemosiderosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001356 MONDO:0000387 False iron deficiency anemia hypochromic microcytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001363 MONDO:0004884 False blind hypertensive eye eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001365 MONDO:0003276 False necrosis of ear ossicle middle ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001355 MONDO:0001436 False ocular siderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001356 MONDO:0000387 False iron deficiency anemia hypochromic microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001363 MONDO:0004884 False blind hypertensive eye eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001365 MONDO:0003276 False necrosis of ear ossicle middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0005172 False necrosis of ear ossicle skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001367 MONDO:0037251 False chronic congestive splenomegaly congestive splenomegaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001372 MONDO:0041154 False bladder neck cancer disorder of neck of urinary bladder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001375 MONDO:0001380 False bladder trigone cancer bladder dome cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001377 MONDO:0004884 False vitreous syneresis eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001379 MONDO:0001380 False ureteric orifice cancer bladder dome cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001379 MONDO:0008627 False ureteric orifice cancer ureter cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001382 MONDO:0002254 False hepatorenal syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001375 MONDO:0001380 False bladder trigone cancer bladder dome cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001377 MONDO:0004884 False vitreous syneresis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001379 MONDO:0001380 False ureteric orifice cancer bladder dome cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001379 MONDO:0008627 False ureteric orifice cancer ureter cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001382 MONDO:0002254 False hepatorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001383 MONDO:0004884 False degenerative myopia eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001383 MONDO:0024237 False degenerative myopia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001384 MONDO:0003847 False myopia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001385 MONDO:0001941 False cortical blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001386 MONDO:0003584 False visual epilepsy visual cortex disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001386 MONDO:0017768 False visual epilepsy reflex epilepsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001389 MONDO:0005453 False congenital coronary artery anomaly congenital heart disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001384 MONDO:0003847 False myopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001385 MONDO:0001941 False cortical blindness blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001386 MONDO:0003584 False visual epilepsy visual cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001386 MONDO:0017768 False visual epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001389 MONDO:0005453 False congenital coronary artery anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001400 MONDO:0000638 False schwannoma of ureter benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001400 MONDO:0056804 False schwannoma of ureter benign neoplasm of peripheral nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001403 MONDO:0002898 False labium majus cancer skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001409 MONDO:0021166 False esophagitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001400 MONDO:0056804 False schwannoma of ureter benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001403 MONDO:0002898 False labium majus cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001409 MONDO:0021166 False esophagitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001423 MONDO:0005084 False drug-induced mental disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001444 MONDO:0100120 False Chagas disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001449 MONDO:0004796 False lymphocytic choriomeningitis infectious meningitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001449 MONDO:0004796 False lymphocytic choriomeningitis infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001449 MONDO:0024318 False lymphocytic choriomeningitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001449 MONDO:0100120 False lymphocytic choriomeningitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001458 MONDO:0007006 False ulnar nerve lesion ulnar neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001458 MONDO:0007006 False ulnar nerve lesion ulnar neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001458 MONDO:0024334 False ulnar nerve lesion peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001459 MONDO:0006683 False radial neuropathy brachial plexus neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001464 MONDO:0006971 False sigmoid colon cancer sigmoid neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001466 MONDO:0001465 False punctate epithelial keratoconjunctivitis superficial keratitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001459 MONDO:0006683 False radial neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001464 MONDO:0006971 False sigmoid colon cancer sigmoid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001466 MONDO:0001465 False punctate epithelial keratoconjunctivitis superficial keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001468 MONDO:0056799 False synovial plica syndrome synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001471 MONDO:0002099 False histoplasmosis meningitis Histoplasma capsulatum infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001472 MONDO:0003125 False testicular lymphoma testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001474 MONDO:0003617 False chronic salpingo-oophoritis chronic salpingitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001479 MONDO:0021201 False cutaneous diphtheria skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001487 MONDO:0003059 False intrahepatic bile duct cancer bile duct cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001471 MONDO:0002099 False histoplasmosis meningitis Histoplasma capsulatum infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001472 MONDO:0003125 False testicular lymphoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001474 MONDO:0003617 False chronic salpingo-oophoritis chronic salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001479 MONDO:0021201 False cutaneous diphtheria skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001487 MONDO:0003059 False intrahepatic bile duct cancer bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001498 MONDO:0045003 False varicocele scrotal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001505 MONDO:0043693 False alcoholic hepatitis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001506 MONDO:0005280 False prostatocystitis prostatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001505 MONDO:0043693 False alcoholic hepatitis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001506 MONDO:0005280 False prostatocystitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001507 MONDO:0021666 False viral labyrinthitis ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001516 MONDO:0003182 False spinal muscular atrophy anterior horn disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001517 MONDO:0000252 False dysentery inflammatory diarrhea UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001517 MONDO:0000257 False dysentery acute diarrhea UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001516 MONDO:0003182 False spinal muscular atrophy anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001517 MONDO:0000252 False dysentery inflammatory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001517 MONDO:0000257 False dysentery acute diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001532 MONDO:0005745 False capillariasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001537 MONDO:0004779 False tuberculous epididymitis epididymitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001537 MONDO:0004779 False tuberculous epididymitis epididymitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001537 MONDO:0006845 False tuberculous epididymitis male genital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001538 MONDO:0043218 False retinal ischemia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001541 MONDO:0001543 False plantar nerve lesion lesion of sciatic nerve UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001542 MONDO:0001543 False common peroneal nerve lesion lesion of sciatic nerve UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001543 MONDO:0001829 False lesion of sciatic nerve lumbosacral plexus lesion UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001543 MONDO:0006960 False lesion of sciatic nerve sciatic neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001541 MONDO:0001543 False plantar nerve lesion lesion of sciatic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001542 MONDO:0001543 False common peroneal nerve lesion lesion of sciatic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001543 MONDO:0001829 False lesion of sciatic nerve lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001543 MONDO:0006960 False lesion of sciatic nerve sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001543 MONDO:0024334 False lesion of sciatic nerve peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001549 MONDO:0001531 False hemolytic-uremic syndrome blood coagulation disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001553 MONDO:0007179 False phacolytic glaucoma autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001558 MONDO:0002254 False Potter sequence syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001558 MONDO:0005881 False Potter sequence oligohydramnios UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001560 MONDO:0005020 False hypertrophic pyloric stenosis intestinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001564 MONDO:0021084 False binocular vision disease vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001567 MONDO:0002123 False nephrocalcinosis calcinosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001568 MONDO:0004750 False mixed receptive-expressive language disorder language disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001571 MONDO:0001100 False gynecomastia disorder hypertrophy of breast UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001549 MONDO:0001531 False hemolytic-uremic syndrome blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001553 MONDO:0007179 False phacolytic glaucoma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001558 MONDO:0002254 False Potter sequence syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001558 MONDO:0005881 False Potter sequence oligohydramnios UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001560 MONDO:0005020 False hypertrophic pyloric stenosis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001564 MONDO:0021084 False binocular vision disease vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001567 MONDO:0002123 False nephrocalcinosis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001568 MONDO:0004750 False mixed receptive-expressive language disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001571 MONDO:0001100 False gynecomastia disorder hypertrophy of breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001575 MONDO:0021159 False chronic gonococcal salpingitis gonococcal salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001576 MONDO:0021658 False telangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001576 MONDO:0021658 False telangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001577 MONDO:0005856 False respiratory syncytial virus infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001577 MONDO:0024352 False respiratory syncytial virus infectious disease viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001586 MONDO:0005328 False mucopolysaccharidosis type 1 eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001586 MONDO:0005381 False mucopolysaccharidosis type 1 bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001577 MONDO:0024352 False respiratory syncytial virus infectious disease viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001586 MONDO:0005328 False mucopolysaccharidosis type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001586 MONDO:0005381 False mucopolysaccharidosis type 1 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001590 MONDO:0006496 False quadriplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001593 MONDO:0024634 False rectal disorder large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001594 MONDO:0004857 False Achilles bursitis tendinitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001594 MONDO:0004857 False Achilles bursitis tendinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001594 MONDO:0045004 False Achilles bursitis skeletal ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001598 MONDO:0000586 False benign lymphoepithelial lesion of salivary gland autoimmune disorder of exocrine system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001602 MONDO:0002656 False labia minora carcinoma skin carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001607 MONDO:0018935 False intrapelvic lymph node leukemic reticuloendotheliosis hairy cell leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001608 MONDO:0002638 False vagus nerve neoplasm glossopharyngeal nerve neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001598 MONDO:0000586 False benign lymphoepithelial lesion of salivary gland autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001602 MONDO:0002656 False labia minora carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001607 MONDO:0018935 False intrapelvic lymph node leukemic reticuloendotheliosis hairy cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001608 MONDO:0002638 False vagus nerve neoplasm glossopharyngeal nerve neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001610 MONDO:0020683 False acute dacryocystitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001613 MONDO:0020674 False vertebrobasilar insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001615 MONDO:0023865 False epidemic keratoconjunctivitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001615 MONDO:0043479 False epidemic keratoconjunctivitis adenoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001615 MONDO:0043541 False epidemic keratoconjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001615 MONDO:0023865 False epidemic keratoconjunctivitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001615 MONDO:0043479 False epidemic keratoconjunctivitis adenoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001615 MONDO:0043541 False epidemic keratoconjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001618 MONDO:0006672 False balanoposthitis balanitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001618 MONDO:0021164 False balanoposthitis posthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001621 MONDO:0006956 False tick-borne relapsing fever Rickettsiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001621 MONDO:0006956 False tick-borne relapsing fever Rickettsiosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001621 MONDO:0025294 False tick-borne relapsing fever tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001624 MONDO:0020683 False acute sphenoidal sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001628 MONDO:0024487 False tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001628 MONDO:0024487 False tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001631 MONDO:0020674 False vertebral artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001633 MONDO:0020673 False central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001640 MONDO:0004277 False gonococcal spondylitis gonorrhea UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001642 MONDO:0005800 False hordeolum externum hordeolum UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001643 MONDO:0001509 False exophthalmic ophthalmoplegia endocrine exophthalmos UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001643 MONDO:0001835 False exophthalmic ophthalmoplegia facial paralysis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001644 MONDO:0003134 False acute proliferative glomerulonephritis proliferative glomerulonephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001633 MONDO:0020673 False central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001640 MONDO:0004277 False gonococcal spondylitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001642 MONDO:0005800 False hordeolum externum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001643 MONDO:0001509 False exophthalmic ophthalmoplegia endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001643 MONDO:0001835 False exophthalmic ophthalmoplegia facial paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001644 MONDO:0003134 False acute proliferative glomerulonephritis proliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001644 MONDO:0020683 False acute proliferative glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001648 MONDO:0001649 False esophageal candidiasis fungal esophagitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001649 MONDO:0043424 False fungal esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001648 MONDO:0001649 False esophageal candidiasis fungal esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001649 MONDO:0043424 False fungal esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001649 MONDO:0100120 False fungal esophagitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001650 MONDO:0005247 False acute cystitis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001650 MONDO:0005247 False acute cystitis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001650 MONDO:0020683 False acute cystitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001653 MONDO:0002149 False prepuce cancer reproductive system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001666 MONDO:0001898 False retinal dystrophies primarily involving Bruch's membrane optic choroid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001653 MONDO:0002149 False prepuce cancer reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001666 MONDO:0001898 False retinal dystrophies primarily involving Bruch's membrane optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001666 MONDO:0043218 False retinal dystrophies primarily involving Bruch's membrane neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001667 MONDO:0021678 False streptobacillus infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001672 MONDO:0002807 False bronchus cancer bronchial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001678 MONDO:0002269 False intestinal tuberculosis gastroenteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001691 MONDO:0002129 False laryngeal cartilage cancer bone cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001702 MONDO:0002656 False labia majora carcinoma skin carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001706 MONDO:0005560 False cerebral sarcoidosis brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001672 MONDO:0002807 False bronchus cancer bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001678 MONDO:0002269 False intestinal tuberculosis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001691 MONDO:0002129 False laryngeal cartilage cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001702 MONDO:0002656 False labia majora carcinoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001706 MONDO:0005560 False cerebral sarcoidosis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001706 MONDO:0045047 False cerebral sarcoidosis neurosarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001707 MONDO:0016345 False cardiac sarcoidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001708 MONDO:0017026 False pulmonary sarcoidosis interstitial lung disease specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001710 MONDO:0002887 False perforation of bile duct bile duct disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001712 MONDO:0000685 False alexia visual agnosia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001712 MONDO:0001697 False alexia reading disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001712 MONDO:0002039 False alexia cognitive disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001713 MONDO:0003847 False inherited aplastic anemia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001714 MONDO:0005976 False bejel syphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001710 MONDO:0002887 False perforation of bile duct bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001712 MONDO:0000685 False alexia visual agnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001712 MONDO:0001697 False alexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001712 MONDO:0002039 False alexia cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001713 MONDO:0003847 False inherited aplastic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001714 MONDO:0005976 False bejel syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001715 MONDO:0020673 False basilar artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001719 MONDO:0004277 False gonococcal bursitis gonorrhea UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001719 MONDO:0004277 False gonococcal bursitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001720 MONDO:0041903 False gonococcal synovitis gonococcal infection of joint UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001733 MONDO:0004634 False occlusion of tributary of retinal vein vein disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001733 MONDO:0006951 False occlusion of tributary of retinal vein retinal vein occlusion UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001734 MONDO:0042983 False tuberous sclerosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001735 MONDO:0024654 False paranasal sinus disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001740 MONDO:0010150 False cornea squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001743 MONDO:0017814 False paranasal sinus lymphoma primary bone lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001748 MONDO:0002131 False maxillary sinus carcinoma jaw cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001748 MONDO:0006181 False maxillary sinus carcinoma digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001733 MONDO:0004634 False occlusion of tributary of retinal vein vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001733 MONDO:0006951 False occlusion of tributary of retinal vein retinal vein occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001734 MONDO:0042983 False tuberous sclerosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001735 MONDO:0024654 False paranasal sinus disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001740 MONDO:0010150 False cornea squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001743 MONDO:0017814 False paranasal sinus lymphoma primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001748 MONDO:0002131 False maxillary sinus carcinoma jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001748 MONDO:0006181 False maxillary sinus carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001749 MONDO:0045051 False cortical senile cataract cortical cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001750 MONDO:0006964 False non-renal secondary hyperparathyroidism secondary hyperparathyroidism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001752 MONDO:0006858 False alveolar periostitis mouth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001754 MONDO:0045048 False eclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001760 MONDO:0043459 False photokeratitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001767 MONDO:0003382 False stenosis of lacrimal punctum eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001768 MONDO:0003382 False stenosis of lacrimal passage eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001750 MONDO:0006964 False non-renal secondary hyperparathyroidism secondary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001752 MONDO:0006858 False alveolar periostitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001754 MONDO:0045048 False eclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001760 MONDO:0043459 False photokeratitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001767 MONDO:0003382 False stenosis of lacrimal punctum eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001768 MONDO:0003382 False stenosis of lacrimal passage eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001769 MONDO:0044984 False acquired tear duct stenosis nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001771 MONDO:0021669 False infective urethral stricture post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001777 MONDO:0021160 False acute gonococcal cystitis gonococcal cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001781 MONDO:0002373 False uterine corpus adenomatoid tumor benign mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001783 MONDO:0004526 False endometrial stromal nodule mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001784 MONDO:0000959 False malignant renovascular hypertension malignant hypertensive renal disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001785 MONDO:0006846 False malignant secondary hypertension malignant hypertension UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001781 MONDO:0002373 False uterine corpus adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001783 MONDO:0004526 False endometrial stromal nodule mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001784 MONDO:0000959 False malignant renovascular hypertension malignant hypertensive renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001785 MONDO:0006846 False malignant secondary hypertension malignant hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001791 MONDO:0005247 False neonatal urinary tract infectious disease bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001794 MONDO:0021201 False Pthirus pubis infestation skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001794 MONDO:0021201 False Pthirus pubis infestation skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001795 MONDO:0024294 False plantar wart skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001795 MONDO:0100329 False plantar wart primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001797 MONDO:0005323 False chancroid bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19473,20 +19508,20 @@ MONDO:0001797 MONDO:0006926 False chancroid haemophilus infectious disease UNSUP MONDO:0001802 MONDO:0020683 False acute tympanitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001802 MONDO:0024616 False acute tympanitis tympanitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001812 MONDO:0020947 False parasitic eyelid infestation parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001816 MONDO:0003085 False scleroperikeratitis keratitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001816 MONDO:0003085 False scleroperikeratitis keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001817 MONDO:0020683 False acute closed-angle glaucoma acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001818 MONDO:0016374 False facial neuralgia cranial neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001819 MONDO:0002782 False multiple cranial nerve palsy cranial nerve palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001823 MONDO:0002254 False sick sinus syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001824 MONDO:0005244 False polyneuropathy peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001819 MONDO:0002782 False multiple cranial nerve palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001823 MONDO:0002254 False sick sinus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001824 MONDO:0005244 False polyneuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001827 MONDO:0000253 False white piedra piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001827 MONDO:0000306 False white piedra trichosporonosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001829 MONDO:0024432 False lumbosacral plexus lesion nerve plexus disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001832 MONDO:0043424 False bacterial esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001827 MONDO:0000306 False white piedra trichosporonosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001829 MONDO:0024432 False lumbosacral plexus lesion nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001832 MONDO:0043424 False bacterial esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001832 MONDO:0100120 False bacterial esophagitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001833 MONDO:0044984 False lacrimal duct obstruction nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001834 MONDO:0005560 False visual pathway disorder brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001834 MONDO:0021084 False visual pathway disorder vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001834 MONDO:0005560 False visual pathway disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001834 MONDO:0021084 False visual pathway disorder vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001835 MONDO:0006496 False facial paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001837 MONDO:0021159 False acute gonococcal salpingitis gonococcal salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001838 MONDO:0020683 False acute gonococcal prostatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19494,33 +19529,33 @@ MONDO:0001838 MONDO:0021161 False acute gonococcal prostatitis gonococcal prosta MONDO:0001847 MONDO:0045050 False nuclear senile cataract nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001848 MONDO:0045049 False Morgagni cataract hypermature cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001854 MONDO:0000462 False lacrimal apparatus disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001858 MONDO:0006816 False Tietze syndrome arthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001867 MONDO:0002312 False phaeohyphomycosis opportunistic mycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001858 MONDO:0006816 False Tietze syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001867 MONDO:0002312 False phaeohyphomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0044083 False phaeohyphomycosis alternariosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001869 MONDO:0001528 False paraurethral gland cancer vulva cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001869 MONDO:0002219 False paraurethral gland cancer paraurethral gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001869 MONDO:0001528 False paraurethral gland cancer vulva cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001869 MONDO:0002219 False paraurethral gland cancer paraurethral gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001870 MONDO:0020683 False acute poststreptococcal glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001871 MONDO:0020683 False acute diffuse glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001873 MONDO:0021166 False geniculate ganglionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001873 MONDO:0021260 False geniculate ganglionitis sensory ganglionopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001875 MONDO:0021166 False epicondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001876 MONDO:0000980 False renal artery atheroma aortic atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001878 MONDO:0001560 False acquired hypertrophic pyloric stenosis hypertrophic pyloric stenosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001879 MONDO:0006519 False anus cancer rectal cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001881 MONDO:0002254 False toxic shock syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001875 MONDO:0021166 False epicondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001876 MONDO:0000980 False renal artery atheroma aortic atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001878 MONDO:0001560 False acquired hypertrophic pyloric stenosis hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001879 MONDO:0006519 False anus cancer rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001881 MONDO:0002254 False toxic shock syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001887 MONDO:0045043 False Allen-Masters syndrome disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001888 MONDO:0002166 False anus lymphoma rectum lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001890 MONDO:0003394 False pulp erosion dental pulp disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001888 MONDO:0002166 False anus lymphoma rectum lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001890 MONDO:0003394 False pulp erosion dental pulp disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001895 MONDO:0020683 False acute retrobulbar neuritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001895 MONDO:0024335 False acute retrobulbar neuritis retrobulbar neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001898 MONDO:0005552 False optic choroid disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001899 MONDO:0006955 False rheumatic congestive heart failure rheumatic heart disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001898 MONDO:0005552 False optic choroid disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001899 MONDO:0006955 False rheumatic congestive heart failure rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001901 MONDO:0015697 False selective IgG subclass deficiency immunoglobulin heavy chain deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001901 MONDO:0045045 False selective IgG subclass deficiency selective IgG immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001901 MONDO:0045045 False selective IgG subclass deficiency selective IgG immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001902 MONDO:0009332 False congenital agammaglobulinemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001902 MONDO:0015977 False congenital agammaglobulinemia agammaglobulinemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001904 MONDO:0001824 False polyneuropathy due to drug polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001906 MONDO:0001176 False posterior dislocation of lens lens disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001902 MONDO:0015977 False congenital agammaglobulinemia agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001904 MONDO:0001824 False polyneuropathy due to drug polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001906 MONDO:0001176 False posterior dislocation of lens lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001909 MONDO:0006022 False renal tubular acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001909 MONDO:0021568 False renal tubular acidosis renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001910 MONDO:0005172 False ochronosis disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19528,1000 +19563,1000 @@ MONDO:0001910 MONDO:0045022 False ochronosis disorder disorder of organic acid m MONDO:0001912 MONDO:0020683 False acute frontal sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001914 MONDO:0040699 False scleromalacia perforans necrotizing scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001920 MONDO:0021204 False chronic purulent otitis media chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001922 MONDO:0005227 False pyoureter abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001922 MONDO:0100338 False pyoureter urinary tract infection UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001922 MONDO:0005227 False pyoureter abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001922 MONDO:0100338 False pyoureter urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001930 MONDO:0020683 False acute cholangitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001940 MONDO:0000986 False pleuropneumonia pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001941 MONDO:0021084 False blindness (disorder) vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001945 MONDO:0021095 False postencephalitic Parkinson disease parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001940 MONDO:0000986 False pleuropneumonia pleurisy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001941 MONDO:0021084 False blindness (disorder) vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001945 MONDO:0021095 False postencephalitic Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001949 MONDO:0020683 False acute thyroiditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001952 MONDO:0021373 False parietal lobe cancer neoplasm of parietal lobe UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001955 MONDO:0002428 False protozoal dysentery protozoa infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001955 MONDO:0002428 False protozoal dysentery protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001955 MONDO:0024270 False protozoal dysentery parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001956 MONDO:0002254 False capillary leak syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001957 MONDO:0001824 False critical illness polyneuropathy polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001965 MONDO:0001804 False sclerosing keratitis anterior scleritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001967 MONDO:0002146 False gonadal dysgenesis hypogonadism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001969 MONDO:0019499 False mixed gonadal dysgenesis Turner syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001956 MONDO:0002254 False capillary leak syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001957 MONDO:0001824 False critical illness polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001965 MONDO:0001804 False sclerosing keratitis anterior scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001967 MONDO:0002146 False gonadal dysgenesis hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001969 MONDO:0019499 False mixed gonadal dysgenesis Turner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001971 MONDO:0022736 False farmer's lung disease occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001976 MONDO:0024575 False chorea gravidarum pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001979 MONDO:0002254 False dumping syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001982 MONDO:0015531 False Niemann-Pick disease non-Langerhans cell histiocytosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001987 MONDO:0005559 False senile degeneration of brain neurodegenerative disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001992 MONDO:0005447 False rete testis adenocarcinoma testicular cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001993 MONDO:0005447 False seminal vesicle adenocarcinoma testicular cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001979 MONDO:0002254 False dumping syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001982 MONDO:0015531 False Niemann-Pick disease non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001987 MONDO:0005559 False senile degeneration of brain neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001992 MONDO:0005447 False rete testis adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001993 MONDO:0005447 False seminal vesicle adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002000 MONDO:0024389 False anaerobic meningitis anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002008 MONDO:0021166 False labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002013 MONDO:0036976 False lymphangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002008 MONDO:0021166 False labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002013 MONDO:0036976 False lymphangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002014 MONDO:0017314 False autosomal recessive Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002021 MONDO:0044992 False gingival disorder mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002022 MONDO:0700096 False disorder of orbital region human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002025 MONDO:0700096 False psychiatric disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002029 MONDO:0021157 False chronic gonorrhea of cervix gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002031 MONDO:0003409 False cecal disorder colonic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002031 MONDO:0003409 False cecal disorder colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002032 MONDO:0024479 False colon carcinoma epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002046 MONDO:0021698 False alcohol abuse alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002049 MONDO:0002245 False thrombocytopenia blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002049 MONDO:0002245 False thrombocytopenia blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002051 MONDO:0700096 False integumentary system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002052 MONDO:0021166 False lymphadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002065 MONDO:0036976 False benign breast adenomyoepithelioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002070 MONDO:0003847 False ventricular septal defect hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002072 MONDO:0005462 False melanotic neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002052 MONDO:0021166 False lymphadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002065 MONDO:0036976 False benign breast adenomyoepithelioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002070 MONDO:0003847 False ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002072 MONDO:0005462 False melanotic neuroectodermal tumor primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002081 MONDO:0700096 False musculoskeletal system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002083 MONDO:0021058 False Richter syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002083 MONDO:0024882 False Richter syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002083 MONDO:0021058 False Richter syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002083 MONDO:0024882 False Richter syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002089 MONDO:0020672 False retinal vascular occlusion vascular occlusion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002102 MONDO:0021166 False cheilitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002109 MONDO:0002132 False pituitary cancer skull cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002109 MONDO:0003766 False pituitary cancer thalamic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002112 MONDO:0002373 False benign peritoneal mesothelioma benign mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002102 MONDO:0021166 False cheilitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002109 MONDO:0002132 False pituitary cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002109 MONDO:0003766 False pituitary cancer thalamic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002112 MONDO:0002373 False benign peritoneal mesothelioma benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002118 MONDO:0700096 False urinary system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002121 MONDO:0002122 False mononeuritis simplex neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002122 MONDO:0021166 False neuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002131 MONDO:0002132 False jaw cancer skull cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002131 MONDO:0002516 False jaw cancer digestive system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002121 MONDO:0002122 False mononeuritis simplex neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002122 MONDO:0021166 False neuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002131 MONDO:0002132 False jaw cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002131 MONDO:0002516 False jaw cancer digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002131 MONDO:0021580 False jaw cancer neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002132 MONDO:0005627 False skull cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002132 MONDO:0005627 False skull cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002132 MONDO:0024653 False skull cancer skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002133 MONDO:0024655 False chronic rheumatic pericarditis rheumatic pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002135 MONDO:0002602 False optic nerve disorder central nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002135 MONDO:0002602 False optic nerve disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002135 MONDO:0024458 False optic nerve disorder disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002138 MONDO:0005551 False allergic contact dermatitis of eyelid eye allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002138 MONDO:0006525 False allergic contact dermatitis of eyelid allergic contact dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002142 MONDO:0005509 False undifferentiated pleomorphic sarcoma histiocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002138 MONDO:0006525 False allergic contact dermatitis of eyelid allergic contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002142 MONDO:0005509 False undifferentiated pleomorphic sarcoma histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002143 MONDO:0016094 False vaginal yolk sac tumor vaginal germ cell malignant tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002150 MONDO:0003081 False hypothalamic disorder thalamic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002155 MONDO:0005281 False cholecystitis gallbladder disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002163 MONDO:0021512 False thymus lipoma benign neoplasm of thymus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002165 MONDO:0001593 False rectal neoplasm rectal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002150 MONDO:0003081 False hypothalamic disorder thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002155 MONDO:0005281 False cholecystitis gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002163 MONDO:0021512 False thymus lipoma benign neoplasm of thymus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002165 MONDO:0001593 False rectal neoplasm rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002170 MONDO:0021204 False chronic eustachian salpingitis chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002173 MONDO:0003620 False neuroma peripheral nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002177 MONDO:0001933 False hyperinsulinism endocrine pancreas disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002173 MONDO:0003620 False neuroma peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002177 MONDO:0001933 False hyperinsulinism endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002184 MONDO:0005359 False drug-induced hepatitis drug-induced liver injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002186 MONDO:0020683 False acute maxillary sinusitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002192 MONDO:0003954 False vulvar angiokeratoma angiokeratoma of Fordyce UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002193 MONDO:0000652 False Bartholin gland benign neoplasm integumentary system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002192 MONDO:0003954 False vulvar angiokeratoma angiokeratoma of Fordyce UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002193 MONDO:0000652 False Bartholin gland benign neoplasm integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002193 MONDO:0021114 False Bartholin gland benign neoplasm Bartholin gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002197 MONDO:0002219 False minor vestibular glands adenoma paraurethral gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002197 MONDO:0004177 False minor vestibular glands adenoma benign urethral neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002197 MONDO:0002219 False minor vestibular glands adenoma paraurethral gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002197 MONDO:0004177 False minor vestibular glands adenoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002203 MONDO:0004880 False constipation disorder bowel dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002204 MONDO:0001429 False transient arthritis transient arthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002204 MONDO:0005578 False transient arthritis arthritic joint disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002211 MONDO:0004805 False B cell deficiency leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002211 MONDO:0021094 False B cell deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002204 MONDO:0001429 False transient arthritis transient arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002204 MONDO:0005578 False transient arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002211 MONDO:0004805 False B cell deficiency leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002211 MONDO:0021094 False B cell deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002218 MONDO:0021372 False temporal lobe cancer neoplasm of temporal lobe UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002219 MONDO:0021049 False paraurethral gland neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002224 MONDO:0003282 False malignant ovarian cyst ovarian cyst UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002226 MONDO:0006877 False tuberculous oophoritis oophoritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002234 MONDO:0021166 False vaginitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002236 MONDO:0005627 False ocular cancer head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002240 MONDO:0001051 False acute perichondritis of pinna acute otitis externa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002224 MONDO:0003282 False malignant ovarian cyst ovarian cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002226 MONDO:0006877 False tuberculous oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002234 MONDO:0021166 False vaginitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002236 MONDO:0005627 False ocular cancer head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002240 MONDO:0001051 False acute perichondritis of pinna acute otitis externa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002241 MONDO:0002242 False factor XIII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002242 MONDO:0001531 False coagulation protein disease blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002242 MONDO:0001531 False coagulation protein disease blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002244 MONDO:0002242 False factor VII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002244 MONDO:0002243 False factor VII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002245 MONDO:0005570 False blood platelet disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002247 MONDO:0002242 False factor X deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002247 MONDO:0002243 False factor X deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002249 MONDO:0002245 False thrombocytosis disease blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002245 MONDO:0005570 False blood platelet disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002247 MONDO:0002242 False factor X deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002247 MONDO:0002243 False factor X deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002249 MONDO:0002245 False thrombocytosis disease blood platelet disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002250 MONDO:0020674 False basilar artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002251 MONDO:0021166 False hepatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002251 MONDO:0021166 False hepatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002254 MONDO:0700096 False syndromic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002258 MONDO:0021166 False pharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002259 MONDO:0005039 False gonadal disorder reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002260 MONDO:0021166 False hidradenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002258 MONDO:0021166 False pharyngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002259 MONDO:0005039 False gonadal disorder reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002260 MONDO:0021166 False hidradenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002260 MONDO:0024467 False hidradenitis apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002266 MONDO:0000266 False malt worker's lung pulmonary aspergilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002266 MONDO:0015243 False malt worker's lung allergic bronchopulmonary aspergillosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002266 MONDO:0000266 False malt worker's lung pulmonary aspergilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002266 MONDO:0015243 False malt worker's lung allergic bronchopulmonary aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002268 MONDO:0001318 False dyspepsia functional gastric disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002269 MONDO:0005020 False gastroenteritis intestinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002269 MONDO:0021166 False gastroenteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002270 MONDO:0043424 False viral gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002269 MONDO:0005020 False gastroenteritis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002269 MONDO:0021166 False gastroenteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002270 MONDO:0043424 False viral gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002274 MONDO:0004960 False monoclonal paraproteinemia disease monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002282 MONDO:0005763 False West Nile fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002282 MONDO:0100120 False West Nile fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002283 MONDO:0005559 False neuroaxonal dystrophy neurodegenerative disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002285 MONDO:0002289 False pupil disorder iris disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002286 MONDO:0005240 False renal artery disease kidney disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002286 MONDO:0005561 False renal artery disease aortic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002283 MONDO:0005559 False neuroaxonal dystrophy neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002285 MONDO:0002289 False pupil disorder iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002286 MONDO:0005240 False renal artery disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002286 MONDO:0005561 False renal artery disease aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002290 MONDO:0024877 False clitoris cancer clitoris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002293 MONDO:0002898 False cutaneous ganglioneuroma skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002293 MONDO:0002898 False cutaneous ganglioneuroma skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002297 MONDO:0024481 False epidermal appendage tumor skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002300 MONDO:0021154 False dermis tumor dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002307 MONDO:0003799 False blepharoconjunctivitis conjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002308 MONDO:0002307 False giant papillary conjunctivitis blepharoconjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002311 MONDO:0005552 False retinal vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002311 MONDO:0043218 False retinal vascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002307 MONDO:0003799 False blepharoconjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002308 MONDO:0002307 False giant papillary conjunctivitis blepharoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002311 MONDO:0005552 False retinal vascular disorder ocular vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002311 MONDO:0043218 False retinal vascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002326 MONDO:0005084 False alcohol-induced mental disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002327 MONDO:0003641 False intracranial cavernous angioma central nervous system hematopoietic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002328 MONDO:0003241 False intracranial hemangioma central nervous system hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002328 MONDO:0021451 False intracranial hemangioma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002327 MONDO:0003641 False intracranial cavernous angioma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002328 MONDO:0003241 False intracranial hemangioma central nervous system hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002328 MONDO:0021451 False intracranial hemangioma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002330 MONDO:0021698 False alcoholic psychosis alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002333 MONDO:0005227 False splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002335 MONDO:0003334 False chronic inflammatory demyelinating polyneuritis demyelinating polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002335 MONDO:0003335 False chronic inflammatory demyelinating polyneuritis chronic polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002335 MONDO:0021166 False chronic inflammatory demyelinating polyneuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002341 MONDO:0043494 False granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002333 MONDO:0005227 False splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002335 MONDO:0003334 False chronic inflammatory demyelinating polyneuritis demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002335 MONDO:0003335 False chronic inflammatory demyelinating polyneuritis chronic polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002335 MONDO:0021166 False chronic inflammatory demyelinating polyneuritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002341 MONDO:0043494 False granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002350 MONDO:0100191 False familial nephrotic syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002356 MONDO:0004335 False pancreas disorder digestive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002360 MONDO:0000636 False chondroma musculoskeletal system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002356 MONDO:0004335 False pancreas disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002360 MONDO:0000636 False chondroma musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002360 MONDO:0005172 False chondroma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002360 MONDO:0021581 False chondroma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002365 MONDO:0021163 False kidney hemangiopericytoma kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002366 MONDO:0001292 False autonomic nervous system neoplasm autonomic nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002366 MONDO:0006130 False autonomic nervous system neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002365 MONDO:0021163 False kidney hemangiopericytoma kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002366 MONDO:0001292 False autonomic nervous system neoplasm autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002366 MONDO:0006130 False autonomic nervous system neoplasm central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002373 MONDO:0005065 False benign mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002380 MONDO:0005626 False myoepithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002382 MONDO:0005165 False benign mesenchymoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002380 MONDO:0005626 False myoepithelial tumor epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002382 MONDO:0005165 False benign mesenchymoma benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002386 MONDO:0003272 False mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002388 MONDO:0021097 False intracystic papillary adenoma intraductal breast papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002395 MONDO:0036976 False renal adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002398 MONDO:0036976 False mucinous adenofibroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002400 MONDO:0005578 False synovitis arthritic joint disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002400 MONDO:0043786 False synovitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002388 MONDO:0021097 False intracystic papillary adenoma intraductal breast papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002395 MONDO:0036976 False renal adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002398 MONDO:0036976 False mucinous adenofibroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002400 MONDO:0005578 False synovitis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002400 MONDO:0043786 False synovitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002400 MONDO:0056799 False synovitis synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002402 MONDO:0002171 False malignant giant cell tumor giant cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002406 MONDO:0021166 False dermatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002402 MONDO:0002171 False malignant giant cell tumor giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002406 MONDO:0021166 False dermatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002408 MONDO:0017755 False hereditary hyperbilirubinemia inborn disorder of bilirubin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002408 MONDO:0024288 False hereditary hyperbilirubinemia hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002409 MONDO:0700096 False auditory system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002412 MONDO:0019243 False disorder of glycogen metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002419 MONDO:0005395 False transient tic disorder movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002422 MONDO:0002415 False adamantinoma bone carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002424 MONDO:0002032 False rectosigmoid carcinoma colon carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002424 MONDO:0044937 False rectosigmoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002425 MONDO:0006519 False rectosigmoid junction cancer rectal cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002412 MONDO:0019243 False disorder of glycogen metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002419 MONDO:0005395 False transient tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002422 MONDO:0002415 False adamantinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002424 MONDO:0002032 False rectosigmoid carcinoma colon carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002424 MONDO:0044937 False rectosigmoid carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002425 MONDO:0006519 False rectosigmoid junction cancer rectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002429 MONDO:0700007 False idiopathic interstitial pneumonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002433 MONDO:0005627 False malignant cranial nerve neoplasm head and neck cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002433 MONDO:0021089 False malignant cranial nerve neoplasm peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002433 MONDO:0005627 False malignant cranial nerve neoplasm head and neck cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002433 MONDO:0021089 False malignant cranial nerve neoplasm peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002436 MONDO:0024623 False nasal disorder otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002437 MONDO:0016541 False dehydration polycythemia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002440 MONDO:0016541 False erythropoietin polycythemia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002442 MONDO:0002254 False long QT syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002442 MONDO:0005453 False long QT syndrome congenital heart disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002444 MONDO:0002050 False melancholia depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002442 MONDO:0002254 False long QT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002442 MONDO:0005453 False long QT syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002444 MONDO:0002050 False melancholia depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002447 MONDO:0005213 False endometrial carcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002448 MONDO:0018078 False laryngeal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002451 MONDO:0004180 False benign prostate phyllodes tumor benign urinary system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002462 MONDO:0019722 False glomerulonephritis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002466 MONDO:0002038 False eye carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002467 MONDO:0021205 False inner ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002448 MONDO:0018078 False laryngeal sarcoma soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002451 MONDO:0004180 False benign prostate phyllodes tumor benign urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002462 MONDO:0019722 False glomerulonephritis glomerular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002466 MONDO:0002038 False eye carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002467 MONDO:0021205 False inner ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002470 MONDO:0021190 False photosensitive trichothiodystrophy DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002470 MONDO:0043459 False photosensitive trichothiodystrophy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002471 MONDO:0021166 False bursitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002471 MONDO:0021166 False bursitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002471 MONDO:0056802 False bursitis synovial bursa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002472 MONDO:0002380 False carcinoma ex pleomorphic adenoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002479 MONDO:0003125 False Sertoli-Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002480 MONDO:0021148 False endometrioid tumor female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002482 MONDO:0002051 False nipple neoplasm integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002472 MONDO:0002380 False carcinoma ex pleomorphic adenoma myoepithelial tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002479 MONDO:0003125 False Sertoli-Leydig cell tumor testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002480 MONDO:0021148 False endometrioid tumor female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002482 MONDO:0002051 False nipple neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002492 MONDO:0020683 False acute kidney failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002508 MONDO:0004842 False gingivitis stomatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002509 MONDO:0006882 False non-specific granulomatous orchitis orchitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002520 MONDO:0005154 False hepatic porphyria liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002508 MONDO:0004842 False gingivitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002509 MONDO:0006882 False non-specific granulomatous orchitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002520 MONDO:0005154 False hepatic porphyria liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002520 MONDO:0037939 False hepatic porphyria porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002522 MONDO:0021581 False tenosynovial giant cell tumor connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002522 MONDO:0024876 False tenosynovial giant cell tumor tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002523 MONDO:0005093 False cutaneous mucinosis skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002528 MONDO:0006816 False synovium neoplasm arthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002523 MONDO:0005093 False cutaneous mucinosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002528 MONDO:0006816 False synovium neoplasm arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002528 MONDO:0056799 False synovium neoplasm synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002540 MONDO:0006517 False childhood oligodendroglioma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002546 MONDO:0021637 False schwannoma low grade glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002547 MONDO:0021042 False nerve sheath neoplasm glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002562 MONDO:0005559 False demyelinating disease neurodegenerative disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002540 MONDO:0006517 False childhood oligodendroglioma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002546 MONDO:0021637 False schwannoma low grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002547 MONDO:0021042 False nerve sheath neoplasm glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002562 MONDO:0005559 False demyelinating disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002562 MONDO:0021147 False demyelinating disease disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002565 MONDO:0005156 False myelitis encephalomyelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002567 MONDO:0000270 False tracheal disorder lower respiratory tract disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002571 MONDO:0004949 False primary central nervous system lymphoma neoplasm of mature B-cells UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002572 MONDO:0043905 False aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002577 MONDO:0002849 False extrahepatic bile duct rhabdomyosarcoma liver rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002579 MONDO:0023603 False orbit embryonal rhabdomyosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002581 MONDO:0002927 False spindle cell rhabdomyosarcoma spindle cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002582 MONDO:0010643 False subacute leukemia acute leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002592 MONDO:0006451 False invasive malignant thymoma thymic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002592 MONDO:0040677 False invasive malignant thymoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002565 MONDO:0005156 False myelitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002567 MONDO:0000270 False tracheal disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002571 MONDO:0004949 False primary central nervous system lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002572 MONDO:0043905 False aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002577 MONDO:0002849 False extrahepatic bile duct rhabdomyosarcoma liver rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002579 MONDO:0023603 False orbit embryonal rhabdomyosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002581 MONDO:0002927 False spindle cell rhabdomyosarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002582 MONDO:0010643 False subacute leukemia acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002592 MONDO:0006451 False invasive malignant thymoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002592 MONDO:0040677 False invasive malignant thymoma invasive carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002594 MONDO:0100329 False monkeypox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002598 MONDO:0006290 False germinoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002625 MONDO:0023603 False Ewing sarcoma of bone hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002633 MONDO:0001406 False cranial nerve neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002633 MONDO:0005586 False cranial nerve neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002635 MONDO:0006999 False periodontal disorder tooth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002643 MONDO:0019056 False vestibular disorder neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002625 MONDO:0023603 False Ewing sarcoma of bone hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002633 MONDO:0001406 False cranial nerve neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002633 MONDO:0005586 False cranial nerve neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002635 MONDO:0006999 False periodontal disorder tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002643 MONDO:0019056 False vestibular disorder neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002643 MONDO:0024417 False vestibular disorder perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002644 MONDO:0700007 False idiopathic granulomatous myositis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002645 MONDO:0005156 False cerebritis encephalomyelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002646 MONDO:0024352 False viral laryngitis viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002647 MONDO:0021166 False laryngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002652 MONDO:0002169 False anus adenocarcinoma rectum adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002645 MONDO:0005156 False cerebritis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002646 MONDO:0024352 False viral laryngitis viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002647 MONDO:0021166 False laryngitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002652 MONDO:0002169 False anus adenocarcinoma rectum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002655 MONDO:0021165 False cutaneous Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002657 MONDO:0700096 False breast disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002669 MONDO:0002664 False ampullary signet ring cell adenocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002670 MONDO:0002665 False ampulla of vater adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002670 MONDO:0006186 False ampulla of vater adenocarcinoma duodenal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002676 MONDO:0002677 False adult fibrosarcoma conventional fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002669 MONDO:0002664 False ampullary signet ring cell adenocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002670 MONDO:0002665 False ampulla of vater adenocarcinoma extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002670 MONDO:0006186 False ampulla of vater adenocarcinoma duodenal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002676 MONDO:0002677 False adult fibrosarcoma conventional fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002680 MONDO:0700108 False chronic wasting disease prion disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002681 MONDO:0002095 False choroid plexus cancer vascular cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002681 MONDO:0043218 False choroid plexus cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002687 MONDO:0002254 False superior mesenteric artery syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002687 MONDO:0005561 False superior mesenteric artery syndrome aortic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002688 MONDO:0004565 False duodenal obstruction intestinal obstruction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002697 MONDO:0018172 False ovarian gonadoblastoma malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002698 MONDO:0003125 False testicular gonadoblastoma testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002698 MONDO:0005447 False testicular gonadoblastoma testicular cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002706 MONDO:0005133 False cervix endometriosis endometriosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002707 MONDO:0004953 False breast mucinous carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002708 MONDO:0006918 False retinitis posterior uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002710 MONDO:0004075 False infiltrating angiolipoma infiltrating lipoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002713 MONDO:0000812 False epidural spinal canal neoplasm vertebral column disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002717 MONDO:0021506 False spinal cord intramedullary teratoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002722 MONDO:0021211 False olfactory nerve neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002727 MONDO:0005560 False olfactory nerve disorder brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002729 MONDO:0002930 False rhabdoid tumor of the kidney kidney sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002734 MONDO:0002748 False anal mucinous adenocarcinoma rectum mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002736 MONDO:0002739 False ampulla of vater mucinous adenocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002681 MONDO:0002095 False choroid plexus cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002681 MONDO:0043218 False choroid plexus cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002687 MONDO:0002254 False superior mesenteric artery syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002687 MONDO:0005561 False superior mesenteric artery syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002688 MONDO:0004565 False duodenal obstruction intestinal obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002697 MONDO:0018172 False ovarian gonadoblastoma malignant sex cord stromal tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002698 MONDO:0003125 False testicular gonadoblastoma testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002698 MONDO:0005447 False testicular gonadoblastoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002706 MONDO:0005133 False cervix endometriosis endometriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002707 MONDO:0004953 False breast mucinous carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002708 MONDO:0006918 False retinitis posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002710 MONDO:0004075 False infiltrating angiolipoma infiltrating lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002713 MONDO:0000812 False epidural spinal canal neoplasm vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002717 MONDO:0021506 False spinal cord intramedullary teratoma benign neoplasm of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002722 MONDO:0021211 False olfactory nerve neoplasm brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002727 MONDO:0005560 False olfactory nerve disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002729 MONDO:0002930 False rhabdoid tumor of the kidney kidney sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002734 MONDO:0002748 False anal mucinous adenocarcinoma rectum mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002736 MONDO:0002739 False ampulla of vater mucinous adenocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002738 MONDO:0020683 False acute transudative otitis media acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002740 MONDO:0002742 False uterine ligament mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002741 MONDO:0005153 False uterine ligament adenocarcinoma cervical adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002756 MONDO:0003985 False solitary plasmacytoma of chest wall chest wall lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002740 MONDO:0002742 False uterine ligament mucinous adenocarcinoma cervical mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002741 MONDO:0005153 False uterine ligament adenocarcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002756 MONDO:0003985 False solitary plasmacytoma of chest wall chest wall lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002761 MONDO:0016285 False cervical verrucous carcinoma papillary carcinoma of the cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002772 MONDO:0000642 False intraventricular meningioma brain meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002772 MONDO:0021322 False intraventricular meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002776 MONDO:0021205 False external ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002783 MONDO:0003159 False Shwartzman phenomenon vascular hemostatic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002790 MONDO:0021348 False seminal vesicle tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002772 MONDO:0000642 False intraventricular meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002772 MONDO:0021322 False intraventricular meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002776 MONDO:0021205 False external ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002783 MONDO:0003159 False Shwartzman phenomenon vascular hemostatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002790 MONDO:0021348 False seminal vesicle tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002801 MONDO:0002803 False colonic pseudo-obstruction intestinal pseudo-obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002803 MONDO:0004567 False intestinal pseudo-obstruction ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002803 MONDO:0004567 False intestinal pseudo-obstruction ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002807 MONDO:0020641 False bronchial neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002811 MONDO:0001672 False main bronchus cancer bronchus cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002811 MONDO:0001672 False main bronchus cancer bronchus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002812 MONDO:0002008 False infectious otitis interna labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002812 MONDO:0021666 False infectious otitis interna ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002812 MONDO:0021669 False infectious otitis interna post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002813 MONDO:0004992 False lipomatous cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002813 MONDO:0021354 False lipomatous cancer tumor of adipose tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002814 MONDO:0001502 False adrenal carcinoma retroperitoneum carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002814 MONDO:0001502 False adrenal carcinoma retroperitoneum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002815 MONDO:0020683 False acute myocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002829 MONDO:0000653 False bartholin gland carcinoma integumentary system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002839 MONDO:0045054 False leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002840 MONDO:0016129 False eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002842 MONDO:0043424 False bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002843 MONDO:0043424 False fungal gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002829 MONDO:0000653 False bartholin gland carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002839 MONDO:0045054 False leather-bottle stomach cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002840 MONDO:0016129 False eosinophilic gastritis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002842 MONDO:0043424 False bacterial gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002843 MONDO:0043424 False fungal gastritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002848 MONDO:0020120 False skeletal muscle neoplasm skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002862 MONDO:0002397 False bile duct sarcoma liver sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002864 MONDO:0002853 False anus rhabdomyosarcoma rectum rhabdomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002865 MONDO:0002168 False anus sarcoma rectum sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002862 MONDO:0002397 False bile duct sarcoma liver sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002864 MONDO:0002853 False anus rhabdomyosarcoma rectum rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002865 MONDO:0002168 False anus sarcoma rectum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002866 MONDO:0024635 False duodenal disorder small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002870 MONDO:0020674 False tricuspid valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002871 MONDO:0002874 False testicular trophoblastic tumor testicular pure germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002871 MONDO:0002874 False testicular trophoblastic tumor testicular pure germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002875 MONDO:0024610 False parasitic ectoparasitic infectious disease parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002889 MONDO:0002132 False orbital cancer skull cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002892 MONDO:0002132 False skull base chordoma skull cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002900 MONDO:0003142 False cerebral neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002903 MONDO:0004750 False articulation disorder language disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002911 MONDO:0005499 False brain stem glioma brain glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002914 MONDO:0006517 False childhood brain stem neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002889 MONDO:0002132 False orbital cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002892 MONDO:0002132 False skull base chordoma skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002900 MONDO:0003142 False cerebral neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002903 MONDO:0004750 False articulation disorder language disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002911 MONDO:0005499 False brain stem glioma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002914 MONDO:0006517 False childhood brain stem neoplasm childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002919 MONDO:0005172 False posterior cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002927 MONDO:0020663 False spindle cell sarcoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002934 MONDO:0000629 False intravascular angioleiomyoma cardiovascular organ benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002934 MONDO:0024296 False intravascular angioleiomyoma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002935 MONDO:0018352 False penis basal cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002936 MONDO:0001651 False scrotum basal cell carcinoma scrotum squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002940 MONDO:0001470 False anal margin basal cell carcinoma anal margin squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002943 MONDO:0003501 False external ear basal cell carcinoma external ear squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002955 MONDO:0024609 False vulva basal cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002957 MONDO:0021663 False sarcomatoid basal cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002960 MONDO:0006915 False polyradiculopathy polyradiculoneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002927 MONDO:0020663 False spindle cell sarcoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002934 MONDO:0000629 False intravascular angioleiomyoma cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002934 MONDO:0024296 False intravascular angioleiomyoma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002935 MONDO:0018352 False penis basal cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002936 MONDO:0001651 False scrotum basal cell carcinoma scrotum squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002940 MONDO:0001470 False anal margin basal cell carcinoma anal margin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002943 MONDO:0003501 False external ear basal cell carcinoma external ear squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002955 MONDO:0024609 False vulva basal cell carcinoma vulvar squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002957 MONDO:0021663 False sarcomatoid basal cell carcinoma sarcomatoid squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002960 MONDO:0006915 False polyradiculopathy polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002965 MONDO:0024652 False parovarian cyst embryonic cyst of fallopian tube UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002966 MONDO:0004699 False splenic manifestation of prolymphocytic leukemia gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002996 MONDO:0004634 False cavernous sinus meningioma vein disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002996 MONDO:0021080 False cavernous sinus meningioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002996 MONDO:0024499 False cavernous sinus meningioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0002996 MONDO:0043218 False cavernous sinus meningioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002966 MONDO:0004699 False splenic manifestation of prolymphocytic leukemia gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002996 MONDO:0004634 False cavernous sinus meningioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002996 MONDO:0021080 False cavernous sinus meningioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002996 MONDO:0024499 False cavernous sinus meningioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002996 MONDO:0043218 False cavernous sinus meningioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002997 MONDO:0005172 False anterior cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002999 MONDO:0015935 False central nervous system germinoma extragonadal germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003002 MONDO:0006290 False dysgerminoma malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003002 MONDO:0020580 False dysgerminoma germinomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003003 MONDO:0016280 False cervical alveolar soft part sarcoma sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003005 MONDO:0003004 False macular retinal edema macular degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003005 MONDO:0003004 False macular retinal edema macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003008 MONDO:0100191 False hereditary renal cell carcinoma inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003011 MONDO:0021568 False mucinous tubular and spindle renal cell carcinoma renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003014 MONDO:0020579 False rhinitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003014 MONDO:0020579 False rhinitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003017 MONDO:0037737 False malignant peritoneal solitary fibrous tumor peritoneal solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003019 MONDO:0000226 False potassium deficiency disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0003019 MONDO:0005137 False potassium deficiency disease nutritional disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003021 MONDO:0043218 False central nervous system angiosarcoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003023 MONDO:0004539 False aorta angiosarcoma aortic malignant tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003030 MONDO:0006745 False endometrioid stromal sarcoma of the cervix endometrioid stromal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003019 MONDO:0000226 False potassium deficiency disease mineral metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003019 MONDO:0005137 False potassium deficiency disease nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003021 MONDO:0043218 False central nervous system angiosarcoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003023 MONDO:0004539 False aorta angiosarcoma aortic malignant tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003030 MONDO:0006745 False endometrioid stromal sarcoma of the cervix endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003030 MONDO:0016280 False endometrioid stromal sarcoma of the cervix sarcoma of cervix uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003032 MONDO:0040676 False superior vena cava angiosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003036 MONDO:0004957 False mucoepidermoid carcinoma mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003032 MONDO:0040676 False superior vena cava angiosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003036 MONDO:0004957 False mucoepidermoid carcinoma mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003036 MONDO:0006720 False mucoepidermoid carcinoma cystic, mucinous, and serous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003037 MONDO:0003847 False hypotrichosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003046 MONDO:0002165 False anus neoplasm rectal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003051 MONDO:0024279 False non specific chronic endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003052 MONDO:0024279 False granulomatous endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003053 MONDO:0002772 False choroid plexus meningioma intraventricular meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003037 MONDO:0003847 False hypotrichosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003046 MONDO:0002165 False anus neoplasm rectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003051 MONDO:0024279 False non specific chronic endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003052 MONDO:0024279 False granulomatous endometritis chronic endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003053 MONDO:0002772 False choroid plexus meningioma intraventricular meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003059 MONDO:0021662 False bile duct cancer bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003060 MONDO:0002691 False biliary tract cancer liver cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003060 MONDO:0005304 False biliary tract cancer biliary tract neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003066 MONDO:0001597 False submandibular adenitis submandibular gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003066 MONDO:0006969 False submandibular adenitis sialadenitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003083 MONDO:0024239 False venous hemangioma congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003084 MONDO:0005244 False uremic neuropathy peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003085 MONDO:0021166 False keratitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003086 MONDO:0003209 False thymic mucoepidermoid carcinoma thymus gland adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003087 MONDO:0004988 False mucoepidermoid breast carcinoma breast adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003089 MONDO:0002739 False extrahepatic bile duct mucoepidermoid carcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003092 MONDO:0002475 False lacrimal gland mucoepidermoid carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003093 MONDO:0005028 False mucoepidermoid esophageal carcinoma esophageal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003098 MONDO:0001406 False mediastinal neural neoplasm peripheral nervous system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003100 MONDO:0024432 False nerve plexus neoplasm nerve plexus disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003110 MONDO:0024666 False skin hemangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003118 MONDO:0021348 False testicular Brenner tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003060 MONDO:0002691 False biliary tract cancer liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003060 MONDO:0005304 False biliary tract cancer biliary tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003066 MONDO:0001597 False submandibular adenitis submandibular gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003066 MONDO:0006969 False submandibular adenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003083 MONDO:0024239 False venous hemangioma congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003084 MONDO:0005244 False uremic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003085 MONDO:0021166 False keratitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003086 MONDO:0003209 False thymic mucoepidermoid carcinoma thymus gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003087 MONDO:0004988 False mucoepidermoid breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003089 MONDO:0002739 False extrahepatic bile duct mucoepidermoid carcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003092 MONDO:0002475 False lacrimal gland mucoepidermoid carcinoma lacrimal gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003093 MONDO:0005028 False mucoepidermoid esophageal carcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003098 MONDO:0001406 False mediastinal neural neoplasm peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003100 MONDO:0024432 False nerve plexus neoplasm nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003110 MONDO:0024666 False skin hemangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003118 MONDO:0021348 False testicular Brenner tumor neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003121 MONDO:0005172 False middle cranial fossa meningioma skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003130 MONDO:0002367 False mesoblastic nephroma kidney cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003136 MONDO:0002462 False anti-basement membrane glomerulonephritis glomerulonephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003136 MONDO:0002462 False anti-basement membrane glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003138 MONDO:0020683 False subacute glomerulonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003144 MONDO:0016713 False medulloepithelioma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003154 MONDO:0003241 False hemangioma of peripheral nerve central nervous system hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003155 MONDO:0002334 False cavernous hemangioma hematopoietic and lymphoid system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003159 MONDO:0005385 False vascular hemostatic disease vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003144 MONDO:0016713 False medulloepithelioma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003154 MONDO:0003241 False hemangioma of peripheral nerve central nervous system hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003155 MONDO:0002334 False cavernous hemangioma hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003159 MONDO:0005385 False vascular hemostatic disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003168 MONDO:0000638 False cerebellar pilocytic astrocytoma benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003169 MONDO:0005499 False diencephalic astrocytomas brain glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003171 MONDO:0003169 False pineal gland astrocytoma diencephalic astrocytomas UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003177 MONDO:0005082 False prostate adenoid cystic carcinoma prostate adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003181 MONDO:0005061 False lung adenoid cystic carcinoma lung adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003182 MONDO:0002545 False anterior horn disorder spinal cord disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003185 MONDO:0004988 False adenoid cystic breast carcinoma breast adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003186 MONDO:0005028 False esophageal adenoid cystic carcinoma esophageal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003187 MONDO:0003853 False Bartholin gland adenoid cystic carcinoma Bartholin gland adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003192 MONDO:0021068 False rete ovarii neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003195 MONDO:0005278 False peritoneal serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003196 MONDO:0006029 False appendix carcinoma cecum carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003169 MONDO:0005499 False diencephalic astrocytomas brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003171 MONDO:0003169 False pineal gland astrocytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003177 MONDO:0005082 False prostate adenoid cystic carcinoma prostate adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003181 MONDO:0005061 False lung adenoid cystic carcinoma lung adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003182 MONDO:0002545 False anterior horn disorder spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003185 MONDO:0004988 False adenoid cystic breast carcinoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003186 MONDO:0005028 False esophageal adenoid cystic carcinoma esophageal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003187 MONDO:0003853 False Bartholin gland adenoid cystic carcinoma Bartholin gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003192 MONDO:0021068 False rete ovarii neoplasm ovarian neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003195 MONDO:0005278 False peritoneal serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003196 MONDO:0006029 False appendix carcinoma cecum carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003196 MONDO:0018511 False appendix carcinoma epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003197 MONDO:0003252 False granular cell carcinoma granular cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003199 MONDO:0044937 False anal carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003205 MONDO:0005086 False renal pelvis adenocarcinoma renal cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003208 MONDO:0004953 False breast secretory carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003210 MONDO:0001487 False intrahepatic cholangiocarcinoma intrahepatic bile duct cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003223 MONDO:0021322 False meninges hemangiopericytoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003225 MONDO:0005046 False bone marrow disorder immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003197 MONDO:0003252 False granular cell carcinoma granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003199 MONDO:0044937 False anal carcinoma rectal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003205 MONDO:0005086 False renal pelvis adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003208 MONDO:0004953 False breast secretory carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003210 MONDO:0001487 False intrahepatic cholangiocarcinoma intrahepatic bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003223 MONDO:0021322 False meninges hemangiopericytoma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003225 MONDO:0005046 False bone marrow disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003225 MONDO:0005172 False bone marrow disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003232 MONDO:0021699 False alcoholic pancreatitis alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003233 MONDO:0003847 False essential tremor hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003241 MONDO:0043218 False central nervous system hemangioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003249 MONDO:0003766 False pineal gland cancer thalamic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003233 MONDO:0003847 False essential tremor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003241 MONDO:0043218 False central nervous system hemangioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003249 MONDO:0003766 False pineal gland cancer thalamic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003250 MONDO:0000638 False benign granular cell tumor benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003250 MONDO:0056804 False benign granular cell tumor benign neoplasm of peripheral nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003252 MONDO:0100342 False granular cell cancer malignant glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003254 MONDO:0003250 False cardiac granular cell neoplasm benign granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003254 MONDO:0021508 False cardiac granular cell neoplasm benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003250 MONDO:0056804 False benign granular cell tumor benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003252 MONDO:0100342 False granular cell cancer malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003254 MONDO:0003250 False cardiac granular cell neoplasm benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003254 MONDO:0021508 False cardiac granular cell neoplasm benign neoplasm of epicardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003257 MONDO:0100070 False posterior pituitary gland neoplasm neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003265 MONDO:0005084 False adjustment disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003272 MONDO:0021043 False mixed epithelial stromal tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003276 MONDO:0021205 False middle ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003276 MONDO:0021205 False middle ear disorder disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003278 MONDO:0024320 False inner ear cancer inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003280 MONDO:0024985 False swayback sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003280 MONDO:0700103 False swayback nutritional deficiency disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003286 MONDO:0004723 False extrahepatic bile duct leiomyoma liver leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003292 MONDO:0004125 False anus leiomyoma rectum leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003300 MONDO:0001092 False appendix leiomyoma colon leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003286 MONDO:0004723 False extrahepatic bile duct leiomyoma liver leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003292 MONDO:0004125 False anus leiomyoma rectum leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003300 MONDO:0001092 False appendix leiomyoma colon leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003301 MONDO:0021581 False dartoic leiomyoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003303 MONDO:0021089 False neurofibroma of gallbladder peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003303 MONDO:0100342 False neurofibroma of gallbladder malignant glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003308 MONDO:0005065 False pleural mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003303 MONDO:0021089 False neurofibroma of gallbladder peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003303 MONDO:0100342 False neurofibroma of gallbladder malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003308 MONDO:0005065 False pleural mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003311 MONDO:0021251 False endometrial stromal tumor endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003313 MONDO:0003314 False endometrioid stromal sarcoma of the vagina endometrioid stromal and related neoplasms of the vagina UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003313 MONDO:0006745 False endometrioid stromal sarcoma of the vagina endometrioid stromal sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003315 MONDO:0002447 False endometrium carcinoma in situ endometrial carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003315 MONDO:0004710 False endometrium carcinoma in situ uterus carcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003319 MONDO:0024582 False scrotum neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003313 MONDO:0003314 False endometrioid stromal sarcoma of the vagina endometrioid stromal and related neoplasms of the vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003313 MONDO:0006745 False endometrioid stromal sarcoma of the vagina endometrioid stromal sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003315 MONDO:0002447 False endometrium carcinoma in situ endometrial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003315 MONDO:0004710 False endometrium carcinoma in situ uterus carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003319 MONDO:0024582 False scrotum neoplasm male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003319 MONDO:0045003 False scrotum neoplasm scrotal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003321 MONDO:0100191 False hereditary Wilms tumor inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003328 MONDO:0002373 False fallopian tube adenomatoid tumor benign mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003332 MONDO:0006980 False malignant struma ovarii struma ovarii UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003332 MONDO:0018369 False malignant struma ovarii immature ovarian teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003333 MONDO:0000646 False benign struma ovarii ovarian benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003333 MONDO:0006980 False benign struma ovarii struma ovarii UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003334 MONDO:0002562 False demyelinating polyneuropathy demyelinating disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003336 MONDO:0006009 False acute necrotizing encephalitis viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003337 MONDO:0006009 False acute hemorrhagic encephalitis viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003328 MONDO:0002373 False fallopian tube adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003332 MONDO:0006980 False malignant struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003332 MONDO:0018369 False malignant struma ovarii immature ovarian teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003333 MONDO:0000646 False benign struma ovarii ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003333 MONDO:0006980 False benign struma ovarii struma ovarii UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003334 MONDO:0002562 False demyelinating polyneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003336 MONDO:0006009 False acute necrotizing encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003337 MONDO:0006009 False acute hemorrhagic encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003341 MONDO:0017588 False subungual glomus tumor nail tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003343 MONDO:0002311 False retinal hemangioblastoma retinal vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003343 MONDO:0021541 False retinal hemangioblastoma hemangioma of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003346 MONDO:0043218 False central nervous system vasculitis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003350 MONDO:0003252 False granular cell leiomyosarcoma granular cell cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003350 MONDO:0003349 False granular cell leiomyosarcoma central nervous system leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003358 MONDO:0003379 False anus leiomyosarcoma rectum leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003362 MONDO:0005058 False cutaneous leiomyosarcoma leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003377 MONDO:0003378 False extrahepatic bile duct leiomyosarcoma liver leiomyosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003381 MONDO:0005560 False pituitary gland disorder brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003343 MONDO:0002311 False retinal hemangioblastoma retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003343 MONDO:0021541 False retinal hemangioblastoma hemangioma of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003346 MONDO:0043218 False central nervous system vasculitis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003350 MONDO:0003252 False granular cell leiomyosarcoma granular cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003350 MONDO:0003349 False granular cell leiomyosarcoma central nervous system leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003358 MONDO:0003379 False anus leiomyosarcoma rectum leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003362 MONDO:0005058 False cutaneous leiomyosarcoma leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003377 MONDO:0003378 False extrahepatic bile duct leiomyosarcoma liver leiomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003381 MONDO:0005560 False pituitary gland disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003382 MONDO:0000462 False eyelid disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003382 MONDO:0005328 False eyelid disorder eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003384 MONDO:0006135 False uterine ligament clear cell adenocarcinoma cervical clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003388 MONDO:0004081 False ampulla of vater clear cell adenocarcinoma extrahepatic bile duct clear cell adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003393 MONDO:0005151 False thymus gland disorder endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003393 MONDO:0005570 False thymus gland disorder hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003396 MONDO:0005079 False epulis polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003399 MONDO:0003401 False pineal region yolk sac tumor central nervous system endodermal sinus tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003382 MONDO:0005328 False eyelid disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003384 MONDO:0006135 False uterine ligament clear cell adenocarcinoma cervical clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003388 MONDO:0004081 False ampulla of vater clear cell adenocarcinoma extrahepatic bile duct clear cell adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003393 MONDO:0005151 False thymus gland disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003393 MONDO:0005570 False thymus gland disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003396 MONDO:0005079 False epulis polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003399 MONDO:0003401 False pineal region yolk sac tumor central nervous system endodermal sinus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003406 MONDO:0100081 False sleep-wake disorder sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003409 MONDO:0024634 False colonic disorder large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003410 MONDO:0005086 False Wolffian duct adenocarcinoma renal cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003410 MONDO:0005086 False Wolffian duct adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003410 MONDO:0024888 False Wolffian duct adenocarcinoma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003411 MONDO:0021100 False breast hemangiopericytoma breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003412 MONDO:0024645 False retroperitoneal hemangiopericytoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003420 MONDO:0002369 False bile duct cystadenoma cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003420 MONDO:0006108 False bile duct cystadenoma bile duct adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003411 MONDO:0021100 False breast hemangiopericytoma breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003412 MONDO:0024645 False retroperitoneal hemangiopericytoma retroperitoneal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003420 MONDO:0002369 False bile duct cystadenoma cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003420 MONDO:0006108 False bile duct cystadenoma bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003425 MONDO:0006496 False ophthalmoplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003429 MONDO:0003604 False functioning pituitary gland adenoma functioning pituitary gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003429 MONDO:0003604 False functioning pituitary gland adenoma functioning pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003430 MONDO:0017611 False prolactin producing pituitary tumor pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003439 MONDO:0000502 False urinary bladder villous adenoma villous adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003450 MONDO:0002533 False eccrine papillary adenoma papillary adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003450 MONDO:0021110 False eccrine papillary adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003439 MONDO:0000502 False urinary bladder villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003450 MONDO:0002533 False eccrine papillary adenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003450 MONDO:0021110 False eccrine papillary adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003452 MONDO:0024654 False cochlear disorder skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003455 MONDO:0000627 False bile duct papillary neoplasm benign endocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003455 MONDO:0002060 False bile duct papillary neoplasm intraductal papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003466 MONDO:0002927 False spindle cell synovial sarcoma spindle cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003473 MONDO:0021546 False spinal cord ependymoma ependymal tumor of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003477 MONDO:0004245 False brain stem ependymoma ependymal tumor of brain UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003455 MONDO:0000627 False bile duct papillary neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003455 MONDO:0002060 False bile duct papillary neoplasm intraductal papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003466 MONDO:0002927 False spindle cell synovial sarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003473 MONDO:0021546 False spinal cord ependymoma ependymal tumor of spinal cord UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003477 MONDO:0004245 False brain stem ependymoma ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003479 MONDO:0043905 False toxic pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003480 MONDO:0003002 False pineal region dysgerminoma dysgerminoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003490 MONDO:0006203 False ampulla of vater squamous cell carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003490 MONDO:0018509 False ampulla of vater squamous cell carcinoma squamous cell carcinoma of the small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003492 MONDO:0010150 False lacrimal gland squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003480 MONDO:0003002 False pineal region dysgerminoma dysgerminoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003490 MONDO:0006203 False ampulla of vater squamous cell carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003490 MONDO:0018509 False ampulla of vater squamous cell carcinoma squamous cell carcinoma of the small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003492 MONDO:0010150 False lacrimal gland squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003494 MONDO:0003495 False ovarian squamous cell carcinoma ovarian squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003499 MONDO:0005056 False sarcomatoid squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003499 MONDO:0005056 False sarcomatoid squamous cell skin carcinoma keratinizing squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003500 MONDO:0018534 False squamous cell bile duct carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003504 MONDO:0002120 False anal canal neuroendocrine neoplasm neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003504 MONDO:0003646 False anal canal neuroendocrine neoplasm rectum neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003504 MONDO:0007108 False anal canal neuroendocrine neoplasm anal canal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003505 MONDO:0000952 False femoral cancer cancer of long bone of lower limb UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003504 MONDO:0002120 False anal canal neuroendocrine neoplasm neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003504 MONDO:0003646 False anal canal neuroendocrine neoplasm rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003504 MONDO:0007108 False anal canal neuroendocrine neoplasm anal canal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003505 MONDO:0000952 False femoral cancer cancer of long bone of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003505 MONDO:0021579 False femoral cancer neoplasm of femur UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003518 MONDO:0020539 False mediastinum teratoma extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003519 MONDO:0002191 False malignant syringoma syringoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003519 MONDO:0002191 False malignant syringoma syringoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003528 MONDO:0020120 False Volkmann contracture skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003529 MONDO:0020683 False acute pyelonephritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003530 MONDO:0044789 False aggressive digital papillary adenocarcinoma digital papillary eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003532 MONDO:0005590 False breast papillary carcinoma breast ductal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003535 MONDO:0002512 False fallopian tube papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003532 MONDO:0005590 False breast papillary carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003535 MONDO:0002512 False fallopian tube papillary adenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003540 MONDO:0005525 False acute T cell leukemia T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003545 MONDO:0002713 False intradural extramedullary spinal canal neoplasm epidural spinal canal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003548 MONDO:0006056 False adenosquamous breast carcinoma squamous cell breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003549 MONDO:0003500 False adenosquamous bile duct carcinoma squamous cell bile duct carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003545 MONDO:0002713 False intradural extramedullary spinal canal neoplasm epidural spinal canal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003548 MONDO:0006056 False adenosquamous breast carcinoma squamous cell breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003549 MONDO:0003500 False adenosquamous bile duct carcinoma squamous cell bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003549 MONDO:0056815 False adenosquamous bile duct carcinoma liver adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003550 MONDO:0005580 False esophageal adenosquamous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003551 MONDO:0003493 False thymic adenosquamous carcinoma thymus squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003553 MONDO:0003490 False ampulla of vater adenosquamous carcinoma ampulla of vater squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003553 MONDO:0006202 False ampulla of vater adenosquamous carcinoma extrahepatic bile duct adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003554 MONDO:0018513 False adenosquamous colon carcinoma squamous cell carcinoma of colon UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003555 MONDO:0004053 False Bartholin gland adenosquamous carcinoma bartholin gland squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003556 MONDO:0006198 False endometrial adenosquamous carcinoma endometrial squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003558 MONDO:0000993 False adenosquamous prostate carcinoma prostate squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003562 MONDO:0021348 False rete testis neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003565 MONDO:0000502 False urethral villous adenoma villous adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003568 MONDO:0005560 False disorder of optic chiasm brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003550 MONDO:0005580 False esophageal adenosquamous carcinoma esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003551 MONDO:0003493 False thymic adenosquamous carcinoma thymus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003553 MONDO:0003490 False ampulla of vater adenosquamous carcinoma ampulla of vater squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003553 MONDO:0006202 False ampulla of vater adenosquamous carcinoma extrahepatic bile duct adenosquamous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003554 MONDO:0018513 False adenosquamous colon carcinoma squamous cell carcinoma of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003555 MONDO:0004053 False Bartholin gland adenosquamous carcinoma bartholin gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003556 MONDO:0006198 False endometrial adenosquamous carcinoma endometrial squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003558 MONDO:0000993 False adenosquamous prostate carcinoma prostate squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003562 MONDO:0021348 False rete testis neoplasm neoplasm of testis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003565 MONDO:0000502 False urethral villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003568 MONDO:0005560 False disorder of optic chiasm brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003578 MONDO:0020539 False extragonadal nonseminomatous germ cell tumor extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003582 MONDO:0015356 False hereditary breast ovarian cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003582 MONDO:0015356 False hereditary breast ovarian cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003584 MONDO:0044996 False visual cortex disorder cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003595 MONDO:0005103 False sclerosing liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003596 MONDO:0002927 False spindle cell liposarcoma spindle cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003596 MONDO:0002927 False spindle cell liposarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003596 MONDO:0005103 False spindle cell liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003598 MONDO:0006683 False median nerve neuropathy brachial plexus neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003598 MONDO:0006683 False median nerve neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003603 MONDO:0017611 False non-functioning pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003603 MONDO:0021119 False non-functioning pituitary gland neoplasm non-functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003604 MONDO:0017611 False functioning pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003604 MONDO:0021120 False functioning pituitary gland neoplasm functioning endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003607 MONDO:0002122 False neuritis of upper limb neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003610 MONDO:0005183 False rete ovarii cystadenoma ovarian cystadenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003612 MONDO:0000637 False uterine ligament cancer musculoskeletal system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003612 MONDO:0002974 False uterine ligament cancer cervical cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003615 MONDO:0005244 False nerve compression syndrome peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003619 MONDO:0000922 False salpingitis pelvic inflammatory disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003624 MONDO:0004953 False acinic cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003626 MONDO:0003631 False uterine ligament serous adenocarcinoma cervical serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003627 MONDO:0005554 False rheumatic pulmonary valve disease rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003607 MONDO:0002122 False neuritis of upper limb neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003610 MONDO:0005183 False rete ovarii cystadenoma ovarian cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003612 MONDO:0000637 False uterine ligament cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003612 MONDO:0002974 False uterine ligament cancer cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003615 MONDO:0005244 False nerve compression syndrome peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003619 MONDO:0000922 False salpingitis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003624 MONDO:0004953 False acinic cell breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003626 MONDO:0003631 False uterine ligament serous adenocarcinoma cervical serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003627 MONDO:0005554 False rheumatic pulmonary valve disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003629 MONDO:0005213 False uterine corpus serous adenocarcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003629 MONDO:0005278 False uterine corpus serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003632 MONDO:0021166 False endocervicitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003638 MONDO:0021322 False lung meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003640 MONDO:0005236 False verruciform xanthoma of skin xanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003629 MONDO:0005278 False uterine corpus serous adenocarcinoma serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003632 MONDO:0021166 False endocervicitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003638 MONDO:0021322 False lung meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003640 MONDO:0005236 False verruciform xanthoma of skin xanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003644 MONDO:0024479 False cavernous hemangioma of colon epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003645 MONDO:0005586 False cavernous hemangioma of face head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003645 MONDO:0005586 False cavernous hemangioma of face head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003646 MONDO:0024476 False rectum neuroendocrine neoplasm epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003652 MONDO:0020683 False acute urate nephropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003653 MONDO:0016231 False stork bite capillary malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003663 MONDO:0003665 False uterine ligament endometrioid adenocarcinoma cervical endometrioid adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003671 MONDO:0003939 False septal myocardial infarction muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003680 MONDO:0000515 False periosteal chondrosarcoma bone chondrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003684 MONDO:0000515 False clear cell chondrosarcoma bone chondrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003663 MONDO:0003665 False uterine ligament endometrioid adenocarcinoma cervical endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003671 MONDO:0003939 False septal myocardial infarction muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003680 MONDO:0000515 False periosteal chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003684 MONDO:0000515 False clear cell chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003686 MONDO:0024467 False apocrine sweat gland neoplasm apocrine sweat gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003688 MONDO:0005065 False well differentiated papillary mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003689 MONDO:0003847 False familial hemolytic anemia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003691 MONDO:0006517 False childhood malignant mesenchymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003700 MONDO:0006683 False brachial plexus neoplasm brachial plexus neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003708 MONDO:0015072 False extrahepatic bile duct small cell adenocarcinoma liver neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003713 MONDO:0003143 False angiokeratoma circumscriptum angiokeratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003722 MONDO:0024320 False internal auditory canal meningioma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003726 MONDO:0003725 False apocrine adenosis of breast breast adenosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003737 MONDO:0005447 False malignant testicular Leydig cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003743 MONDO:0021209 False heart malignant hemangiopericytoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003744 MONDO:0020663 False spindle cell intraocular melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003746 MONDO:0004188 False ciliary body spindle cell melanoma iris spindle cell melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003688 MONDO:0005065 False well differentiated papillary mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003689 MONDO:0003847 False familial hemolytic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003691 MONDO:0006517 False childhood malignant mesenchymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003700 MONDO:0006683 False brachial plexus neoplasm brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003708 MONDO:0015072 False extrahepatic bile duct small cell adenocarcinoma liver neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003713 MONDO:0003143 False angiokeratoma circumscriptum angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003722 MONDO:0024320 False internal auditory canal meningioma inner ear neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003726 MONDO:0003725 False apocrine adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003737 MONDO:0005447 False malignant testicular Leydig cell tumor testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003743 MONDO:0021209 False heart malignant hemangiopericytoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003744 MONDO:0020663 False spindle cell intraocular melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003746 MONDO:0004188 False ciliary body spindle cell melanoma iris spindle cell melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003749 MONDO:0044991 False esophageal disorder upper digestive tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003754 MONDO:0002254 False Brown-Sequard syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003754 MONDO:0002254 False Brown-Sequard syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003757 MONDO:0006496 False paraplegia palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003763 MONDO:0020683 False acute stress disorder acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003764 MONDO:0003057 False pediatric leptomeningeal melanoma pediatric meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003764 MONDO:0042494 False pediatric leptomeningeal melanoma childhood malignant melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003766 MONDO:0003081 False thalamic cancer thalamic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003764 MONDO:0003057 False pediatric leptomeningeal melanoma pediatric meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003764 MONDO:0042494 False pediatric leptomeningeal melanoma childhood malignant melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003766 MONDO:0003081 False thalamic cancer thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003769 MONDO:0005794 False herpetic gastritis Herpesviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003771 MONDO:0024653 False jugular foramen meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003772 MONDO:0021322 False cerebral meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003771 MONDO:0024653 False jugular foramen meningioma skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003772 MONDO:0021322 False cerebral meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003778 MONDO:0009453 False inborn error of immunity immune deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003780 MONDO:0021094 False T-cell immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003781 MONDO:0021925 False bronchitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003792 MONDO:0005140 False ovarian carcinosarcoma ovarian carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003795 MONDO:0000402 False ovarian small cell carcinoma small cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003795 MONDO:0002481 False ovarian small cell carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003799 MONDO:0021166 False conjunctivitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003780 MONDO:0021094 False T-cell immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003781 MONDO:0021925 False bronchitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003792 MONDO:0005140 False ovarian carcinosarcoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003795 MONDO:0000402 False ovarian small cell carcinoma small cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003795 MONDO:0002481 False ovarian small cell carcinoma ovarian neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003799 MONDO:0021166 False conjunctivitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003803 MONDO:0045001 False aortic valve disorder cardiac ventricle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003806 MONDO:0005626 False thyroid hyalinizing trabecular adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003809 MONDO:0021386 False malignant mediastinum hemangiopericytoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003811 MONDO:0021043 False ovarian seromucinous tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003816 MONDO:0006816 False articular cartilage disorder arthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003806 MONDO:0005626 False thyroid hyalinizing trabecular adenoma epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003809 MONDO:0021386 False malignant mediastinum hemangiopericytoma neoplasm of mediastinum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003811 MONDO:0021043 False ovarian seromucinous tumor mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003816 MONDO:0006816 False articular cartilage disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003824 MONDO:0100191 False hereditary kidney oncocytoma inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003827 MONDO:0016463 False transient hypogammaglobulinemia syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003828 MONDO:0002038 False growth hormone-producing pituitary gland carcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003828 MONDO:0002415 False growth hormone-producing pituitary gland carcinoma bone carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003827 MONDO:0016463 False transient hypogammaglobulinemia syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003828 MONDO:0002038 False growth hormone-producing pituitary gland carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003828 MONDO:0002415 False growth hormone-producing pituitary gland carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003828 MONDO:0019927 False growth hormone-producing pituitary gland carcinoma growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003832 MONDO:0021094 False complement deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003846 MONDO:0043424 False viral esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003832 MONDO:0021094 False complement deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003846 MONDO:0043424 False viral esophagitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003847 MONDO:0700096 False hereditary disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003857 MONDO:0005094 False adult intracranial malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003872 MONDO:0002533 False ovarian papillary cystadenoma papillary adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003879 MONDO:0002991 False ovarian endometrioid adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003857 MONDO:0005094 False adult intracranial malignant hemangiopericytoma hemangiopericytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003872 MONDO:0002533 False ovarian papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003879 MONDO:0002991 False ovarian endometrioid adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003900 MONDO:0700096 False connective tissue disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003901 MONDO:0002328 False cerebellar hemangioblastoma intracranial hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003901 MONDO:0021499 False cerebellar hemangioblastoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003902 MONDO:0002328 False brain stem hemangioblastoma intracranial hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003902 MONDO:0021507 False brain stem hemangioblastoma benign neoplasm of brain stem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003909 MONDO:0005635 False Bartholin gland adenomyoma adenomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003912 MONDO:0004064 False malignant ciliary body melanoma iris melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003926 MONDO:0021065 False neurilemmoma of the pleura pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003931 MONDO:0004071 False childhood optic tract astrocytoma childhood cerebral astrocytoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003934 MONDO:0005590 False breast apocrine carcinoma breast ductal adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003936 MONDO:0004953 False invasive tubular breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003901 MONDO:0002328 False cerebellar hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003901 MONDO:0021499 False cerebellar hemangioblastoma benign neoplasm of cerebellum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003902 MONDO:0002328 False brain stem hemangioblastoma intracranial hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003902 MONDO:0021507 False brain stem hemangioblastoma benign neoplasm of brain stem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003909 MONDO:0005635 False Bartholin gland adenomyoma adenomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003912 MONDO:0004064 False malignant ciliary body melanoma iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003926 MONDO:0021065 False neurilemmoma of the pleura pleural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003931 MONDO:0004071 False childhood optic tract astrocytoma childhood cerebral astrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003934 MONDO:0005590 False breast apocrine carcinoma breast ductal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003936 MONDO:0004953 False invasive tubular breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003937 MONDO:0021166 False spondylitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003937 MONDO:0045002 False spondylitis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003940 MONDO:0005380 False Kummell disease osteonecrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003940 MONDO:0045002 False Kummell disease vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003944 MONDO:0002807 False endobronchial leiomyoma bronchial neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003946 MONDO:0000502 False vaginal villous adenoma villous adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003950 MONDO:0000653 False nipple carcinoma integumentary system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003954 MONDO:0003143 False angiokeratoma of Fordyce angiokeratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003956 MONDO:0000812 False Baastrup syndrome vertebral column disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003962 MONDO:0002254 False Froelich syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003965 MONDO:0002254 False Capgras syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003976 MONDO:0006451 False malignant type AB thymoma thymic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003979 MONDO:0003444 False intrahepatic bile duct cystadenoma intrahepatic bile duct adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003980 MONDO:0024653 False schwannoma of jugular foramen skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0003988 MONDO:0017814 False sternum lymphoma primary bone lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004001 MONDO:0002254 False compartment syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004004 MONDO:0002122 False motor nerve neuritis neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004004 MONDO:0002316 False motor nerve neuritis motor peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003944 MONDO:0002807 False endobronchial leiomyoma bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003946 MONDO:0000502 False vaginal villous adenoma villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003950 MONDO:0000653 False nipple carcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003954 MONDO:0003143 False angiokeratoma of Fordyce angiokeratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003956 MONDO:0000812 False Baastrup syndrome vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003962 MONDO:0002254 False Froelich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003965 MONDO:0002254 False Capgras syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003976 MONDO:0006451 False malignant type AB thymoma thymic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003979 MONDO:0003444 False intrahepatic bile duct cystadenoma intrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003980 MONDO:0024653 False schwannoma of jugular foramen skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0003988 MONDO:0017814 False sternum lymphoma primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004001 MONDO:0002254 False compartment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004004 MONDO:0002122 False motor nerve neuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004004 MONDO:0002316 False motor nerve neuritis motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004005 MONDO:0005179 False rete ovarii adenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004006 MONDO:0000646 False rete ovarii cystadenofibroma ovarian benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004017 MONDO:0003514 False pineal region immature teratoma malignant teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004017 MONDO:0003578 False pineal region immature teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004024 MONDO:0000640 False spinal cord neuroblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004026 MONDO:0060765 False skin tag fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004047 MONDO:0002785 False sphenoidal sinus neoplasm skull base neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004006 MONDO:0000646 False rete ovarii cystadenofibroma ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004017 MONDO:0003514 False pineal region immature teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004017 MONDO:0003578 False pineal region immature teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004024 MONDO:0000640 False spinal cord neuroblastoma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004026 MONDO:0060765 False skin tag fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004047 MONDO:0002785 False sphenoidal sinus neoplasm skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004047 MONDO:0023369 False sphenoidal sinus neoplasm disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004048 MONDO:0003514 False immature gastric teratoma malignant teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004048 MONDO:0003578 False immature gastric teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004048 MONDO:0003514 False immature gastric teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004048 MONDO:0003578 False immature gastric teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004055 MONDO:0020683 False acute inflammation of lacrimal passage acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004066 MONDO:0004063 False intermediate cell type ciliary body melanoma intermediate cell type iris melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004069 MONDO:0015327 False inborn mitochondrial metabolism disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004066 MONDO:0004063 False intermediate cell type ciliary body melanoma intermediate cell type iris melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004069 MONDO:0015327 False inborn mitochondrial metabolism disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004069 MONDO:0044970 False inborn mitochondrial metabolism disorder mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004071 MONDO:0005499 False childhood cerebral astrocytoma brain glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004071 MONDO:0006517 False childhood cerebral astrocytoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004076 MONDO:0024715 False tendon sheath lipoma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004071 MONDO:0005499 False childhood cerebral astrocytoma brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004071 MONDO:0006517 False childhood cerebral astrocytoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004076 MONDO:0024715 False tendon sheath lipoma benign synovial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004076 MONDO:0024876 False tendon sheath lipoma tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004077 MONDO:0000812 False lumbosacral lipoma vertebral column disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004078 MONDO:0002739 False mucinous intrahepatic cholangiocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004082 MONDO:0004479 False childhood immature teratoma of ovary malignant childhood germ cell neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004095 MONDO:0004805 False B-cell neoplasm leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004104 MONDO:0004699 False splenic manifestation of hairy cell leukemia gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004109 MONDO:0021358 False epiglottis neoplasm neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004116 MONDO:0003649 False esophageal small cell neuroendocrine carcinoma esophageal neuroendocrine tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004117 MONDO:0015072 False ampulla of vater small cell neuroendocrine carcinoma liver neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004077 MONDO:0000812 False lumbosacral lipoma vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004078 MONDO:0002739 False mucinous intrahepatic cholangiocarcinoma extrahepatic bile duct mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004082 MONDO:0004479 False childhood immature teratoma of ovary malignant childhood germ cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004095 MONDO:0004805 False B-cell neoplasm leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004104 MONDO:0004699 False splenic manifestation of hairy cell leukemia gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004109 MONDO:0021358 False epiglottis neoplasm neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004116 MONDO:0003649 False esophageal small cell neuroendocrine carcinoma esophageal neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004117 MONDO:0015072 False ampulla of vater small cell neuroendocrine carcinoma liver neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004117 MONDO:0024500 False ampulla of vater small cell neuroendocrine carcinoma duodenal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004126 MONDO:0021166 False thyroiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004131 MONDO:0027026 False anal verrucous carcinoma Buschke Lowenstein tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004131 MONDO:0043424 False anal verrucous carcinoma digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004135 MONDO:0001949 False subacute lymphocytic thyroiditis acute thyroiditis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004148 MONDO:0002512 False gallbladder papillary neoplasm with an associated invasive carcinoma papillary adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004126 MONDO:0021166 False thyroiditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004131 MONDO:0027026 False anal verrucous carcinoma Buschke Lowenstein tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004131 MONDO:0043424 False anal verrucous carcinoma digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004135 MONDO:0001949 False subacute lymphocytic thyroiditis acute thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004148 MONDO:0002512 False gallbladder papillary neoplasm with an associated invasive carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004151 MONDO:0021322 False spinal meninges cancer malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004156 MONDO:0005858 False pancreatic mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004166 MONDO:0003847 False hereditary fallopian tube carcinoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004172 MONDO:0002991 False uterine corpus adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004173 MONDO:0024336 False adenocarcinoma of skene gland origin vulvar adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004175 MONDO:0006192 False mucin-rich endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004156 MONDO:0005858 False pancreatic mucinous cystadenocarcinoma mucinous cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004166 MONDO:0003847 False hereditary fallopian tube carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004172 MONDO:0002991 False uterine corpus adenocarcinofibroma adenocarcinofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004173 MONDO:0024336 False adenocarcinoma of skene gland origin vulvar adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004175 MONDO:0006192 False mucin-rich endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004185 MONDO:0005182 False ovarian serous cystadenofibroma serous cystadenofibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004186 MONDO:0005172 False cranial nodular fasciitis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004190 MONDO:0004191 False nephrogenic adenoma of urinary bladder nephrogenic adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004202 MONDO:0002814 False adrenal medulla carcinoma adrenal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004204 MONDO:0001825 False squamous cell skin papilloma squamous papilloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004206 MONDO:0016982 False pulmonary vein leiomyosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004206 MONDO:0040676 False pulmonary vein leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004207 MONDO:0016982 False pulmonary artery leiomyosarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004207 MONDO:0040676 False pulmonary artery leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004208 MONDO:0003032 False superior vena cava leiomyosarcoma superior vena cava angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004190 MONDO:0004191 False nephrogenic adenoma of urinary bladder nephrogenic adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004202 MONDO:0002814 False adrenal medulla carcinoma adrenal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004204 MONDO:0001825 False squamous cell skin papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004206 MONDO:0016982 False pulmonary vein leiomyosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004206 MONDO:0040676 False pulmonary vein leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004207 MONDO:0016982 False pulmonary artery leiomyosarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004207 MONDO:0040676 False pulmonary artery leiomyosarcoma great vessel cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004208 MONDO:0003032 False superior vena cava leiomyosarcoma superior vena cava angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004215 MONDO:0024295 False cutaneous anthrax skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004221 MONDO:0004526 False uterine corpus perivascular epithelioid cell tumor mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004225 MONDO:0004960 False monoclonal gammopathy of uncertain significance monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004226 MONDO:0021098 False diffuse intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004227 MONDO:0002373 False epididymal adenomatoid tumor benign mesothelioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004230 MONDO:0005065 False adenomatoid tumor mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004235 MONDO:0021166 False diverticulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004245 MONDO:0003266 False ependymal tumor of brain ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004247 MONDO:0043839 False peptic ulcer disease ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004248 MONDO:0006517 False pediatric infratentorial ependymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004248 MONDO:0020685 False pediatric infratentorial ependymoma infratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004249 MONDO:0006517 False pediatric supratentorial ependymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004249 MONDO:0020687 False pediatric supratentorial ependymoma supratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004250 MONDO:0003455 False extrahepatic bile duct papillary adenoma bile duct papillary neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004221 MONDO:0004526 False uterine corpus perivascular epithelioid cell tumor mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004225 MONDO:0004960 False monoclonal gammopathy of uncertain significance monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004226 MONDO:0021098 False diffuse intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004227 MONDO:0002373 False epididymal adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004230 MONDO:0005065 False adenomatoid tumor mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004235 MONDO:0021166 False diverticulitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004245 MONDO:0003266 False ependymal tumor of brain ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004247 MONDO:0043839 False peptic ulcer disease ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004248 MONDO:0006517 False pediatric infratentorial ependymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004248 MONDO:0020685 False pediatric infratentorial ependymoma infratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004249 MONDO:0006517 False pediatric supratentorial ependymoma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004249 MONDO:0020687 False pediatric supratentorial ependymoma supratentorial ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004250 MONDO:0003455 False extrahepatic bile duct papillary adenoma bile duct papillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004251 MONDO:0024635 False small intestine neoplasm small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004254 MONDO:0021098 False focal intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004255 MONDO:0021629 False Wolffian adnexal tumor uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004254 MONDO:0021098 False focal intraductal papillomatosis papillomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004255 MONDO:0021629 False Wolffian adnexal tumor uterine ligament neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004259 MONDO:0021309 False endocervical carcinoma malignant neoplasm of endocervix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004263 MONDO:0002798 False pediatric infratentorial ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004263 MONDO:0003142 False pediatric infratentorial ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004263 MONDO:0002798 False pediatric infratentorial ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004263 MONDO:0003142 False pediatric infratentorial ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004265 MONDO:0020683 False acute endometritis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004272 MONDO:0005247 False urinary bladder tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004273 MONDO:0002804 False breast apocrine adenoma apocrine adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004273 MONDO:0021110 False breast apocrine adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004273 MONDO:0021489 False breast apocrine adenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004273 MONDO:0024666 False breast apocrine adenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004275 MONDO:0002415 False osteosarcoma arising in bone Paget disease bone carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004275 MONDO:0021165 False osteosarcoma arising in bone Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004273 MONDO:0002804 False breast apocrine adenoma apocrine adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004273 MONDO:0021110 False breast apocrine adenoma sweat gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004273 MONDO:0021489 False breast apocrine adenoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004273 MONDO:0024666 False breast apocrine adenoma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004275 MONDO:0002415 False osteosarcoma arising in bone Paget disease bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004275 MONDO:0021165 False osteosarcoma arising in bone Paget disease Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004277 MONDO:0005323 False gonorrhea bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004279 MONDO:0002316 False glossopharyngeal motor neuropathy motor peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004294 MONDO:0016096 False gestational ovarian choriocarcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004310 MONDO:0002795 False adult embryonal tumor with multilayered rosettes, c19mc-altered adult central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004311 MONDO:0003975 False carcinoma of Cowper glands Littre gland carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004279 MONDO:0002316 False glossopharyngeal motor neuropathy motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004294 MONDO:0016096 False gestational ovarian choriocarcinoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004310 MONDO:0002795 False adult embryonal tumor with multilayered rosettes, c19mc-altered adult central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004311 MONDO:0003975 False carcinoma of Cowper glands Littre gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004312 MONDO:0023369 False suprasellar meningioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004315 MONDO:0021581 False cholangiolocellular carcinoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004333 MONDO:0023206 False pancreatic ACTH-producing neuroendocrine tumor functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004333 MONDO:0023206 False pancreatic ACTH-producing neuroendocrine tumor functional pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004335 MONDO:0700096 False digestive system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004337 MONDO:0002655 False perianal skin Paget disease cutaneous Paget disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004337 MONDO:0002655 False perianal skin Paget disease cutaneous Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004338 MONDO:0024341 False retinal cell cancer retinal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004339 MONDO:0023369 False tuberculum sellae meningioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004346 MONDO:0002664 False signet ring cell intrahepatic cholangiocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004378 MONDO:0002798 False pediatric cerebral ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004378 MONDO:0003142 False pediatric cerebral ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004380 MONDO:0000621 False dendritic cell sarcoma immune system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004380 MONDO:0004805 False dendritic cell sarcoma leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004385 MONDO:0024617 False adult xanthogranuloma xanthogranuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004387 MONDO:0024575 False luteoma of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004394 MONDO:0004958 False maxillary sinus squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004346 MONDO:0002664 False signet ring cell intrahepatic cholangiocarcinoma extrahepatic bile duct signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004378 MONDO:0002798 False pediatric cerebral ependymoblastoma childhood central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004378 MONDO:0003142 False pediatric cerebral ependymoblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004380 MONDO:0000621 False dendritic cell sarcoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004380 MONDO:0004805 False dendritic cell sarcoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004385 MONDO:0024617 False adult xanthogranuloma xanthogranuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004387 MONDO:0024575 False luteoma of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004394 MONDO:0004958 False maxillary sinus squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004398 MONDO:0000638 False mediastinal schwannoma benign glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004398 MONDO:0056804 False mediastinal schwannoma benign neoplasm of peripheral nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004412 MONDO:0024240 False malignant spiradenoma eccrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004420 MONDO:0004988 False breast malignant eccrine spiradenoma breast adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004398 MONDO:0056804 False mediastinal schwannoma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004412 MONDO:0024240 False malignant spiradenoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004420 MONDO:0004988 False breast malignant eccrine spiradenoma breast adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004429 MONDO:0021322 False skin meningioma malignant tumor of meninges UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004436 MONDO:0016248 False ovarian myxoid liposarcoma familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004440 MONDO:0000642 False pineal region meningioma brain meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004446 MONDO:0000642 False olfactory groove meningioma brain meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004447 MONDO:0000642 False pituitary stalk meningioma brain meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004447 MONDO:0002997 False pituitary stalk meningioma anterior cranial fossa meningioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004447 MONDO:0003257 False pituitary stalk meningioma posterior pituitary gland neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004461 MONDO:0024661 False vaginal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004462 MONDO:0003445 False extrahepatic bile duct cystadenoma extrahepatic bile duct adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004440 MONDO:0000642 False pineal region meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004446 MONDO:0000642 False olfactory groove meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004447 MONDO:0000642 False pituitary stalk meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004447 MONDO:0002997 False pituitary stalk meningioma anterior cranial fossa meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004447 MONDO:0003257 False pituitary stalk meningioma posterior pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004461 MONDO:0024661 False vaginal tubulovillous adenoma tubulovillous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004462 MONDO:0003445 False extrahepatic bile duct cystadenoma extrahepatic bile duct adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004463 MONDO:0700007 False cellular phase chronic idiopathic myelofibrosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004466 MONDO:0021166 False neuronitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004471 MONDO:0005113 False bacterial arthritis bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004471 MONDO:0042485 False bacterial arthritis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004473 MONDO:0005216 False epiglottis cancer hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004477 MONDO:0006076 False adrenal gland ganglioneuroblastoma adrenal gland neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004489 MONDO:0003392 False fallopian tube gestational choriocarcinoma fallopian tube germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004466 MONDO:0021166 False neuronitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004471 MONDO:0005113 False bacterial arthritis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004471 MONDO:0042485 False bacterial arthritis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004473 MONDO:0005216 False epiglottis cancer hypopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004477 MONDO:0006076 False adrenal gland ganglioneuroblastoma adrenal gland neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004489 MONDO:0003392 False fallopian tube gestational choriocarcinoma fallopian tube germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004491 MONDO:0016273 False uterine corpus choriocarcinoma malignant germ cell tumor of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004492 MONDO:0021166 False mediastinitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004495 MONDO:0016107 False myotonic cataract myotonic dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004496 MONDO:0000591 False myocarditis intrinsic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004492 MONDO:0021166 False mediastinitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004495 MONDO:0016107 False myotonic cataract myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004496 MONDO:0000591 False myocarditis intrinsic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004496 MONDO:0024636 False myocarditis inflammation of heart layer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004496 MONDO:0024643 False myocarditis myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004504 MONDO:0001325 False penile urethral cancer penile cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004496 MONDO:0024643 False myocarditis myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004504 MONDO:0001325 False penile urethral cancer penile cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004510 MONDO:0005103 False inflammatory liposarcoma well-differentiated liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004517 MONDO:0005247 False ureter tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004522 MONDO:0043786 False peritonitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004525 MONDO:0021201 False scabies skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004527 MONDO:0002320 False congenital granular cell tumor congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004527 MONDO:0006235 False congenital granular cell tumor granular cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004528 MONDO:0024339 False lymph node palisaded myofibroblastoma lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004531 MONDO:0003725 False sclerosing adenosis of breast breast adenosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004546 MONDO:0001829 False lumbar plexus neoplasm lumbosacral plexus lesion UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004522 MONDO:0043786 False peritonitis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004525 MONDO:0021201 False scabies skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004527 MONDO:0002320 False congenital granular cell tumor congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004527 MONDO:0006235 False congenital granular cell tumor granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004528 MONDO:0024339 False lymph node palisaded myofibroblastoma lymph node neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004531 MONDO:0003725 False sclerosing adenosis of breast breast adenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004546 MONDO:0001829 False lumbar plexus neoplasm lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004549 MONDO:0005766 False cork-handlers' disease fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004551 MONDO:0001229 False Meckel diverticulitis small intestine diverticulitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004551 MONDO:0043579 False Meckel diverticulitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004555 MONDO:0020581 False kidney angiomyolipoma benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004557 MONDO:0002677 False congenital fibrosarcoma conventional fibrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004568 MONDO:0004567 False paralytic ileus ileus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004573 MONDO:0003847 False ariboflavinosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004574 MONDO:0042976 False pyridoxine deficiency anemia vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004577 MONDO:0043839 False corneal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004582 MONDO:0006955 False rheumatic myocarditis rheumatic heart disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004551 MONDO:0001229 False Meckel diverticulitis small intestine diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004551 MONDO:0043579 False Meckel diverticulitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004555 MONDO:0020581 False kidney angiomyolipoma benign PEComa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004557 MONDO:0002677 False congenital fibrosarcoma conventional fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004568 MONDO:0004567 False paralytic ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004573 MONDO:0003847 False ariboflavinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004574 MONDO:0042976 False pyridoxine deficiency anemia vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004577 MONDO:0043839 False corneal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004582 MONDO:0006955 False rheumatic myocarditis rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004584 MONDO:0005766 False maple bark strippers' lung fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004584 MONDO:0017853 False maple bark strippers' lung hypersensitivity pneumonitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004584 MONDO:0017853 False maple bark strippers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004585 MONDO:0024575 False polyhydramnios pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004587 MONDO:0003847 False hereditary night blindness hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004588 MONDO:0001941 False night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004587 MONDO:0003847 False hereditary night blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004588 MONDO:0001941 False night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004591 MONDO:0024575 False impetigo herpetiformis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004592 MONDO:0005545 False impetigo staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004592 MONDO:0021201 False impetigo skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004592 MONDO:0021680 False impetigo streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004592 MONDO:0005545 False impetigo staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004592 MONDO:0021201 False impetigo skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004592 MONDO:0021680 False impetigo streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004592 MONDO:0024295 False impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004593 MONDO:0002051 False Bartholin duct cyst integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004597 MONDO:0005275 False pulmonary embolism and infarction lung disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004593 MONDO:0002051 False Bartholin duct cyst integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004597 MONDO:0005275 False pulmonary embolism and infarction lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004598 MONDO:0020683 False acute cor pulmonale acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004609 MONDO:0005794 False herpes simplex infectious disease Herpesviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004613 MONDO:0020675 False acute intestinal ischemia ischemic bowel disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004613 MONDO:0020675 False acute intestinal ischemia ischemic bowel disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004613 MONDO:0020683 False acute intestinal ischemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004614 MONDO:0001014 False chronic monocytic leukemia chronic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004616 MONDO:0005898 False herpetic whitlow paronychia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004614 MONDO:0001014 False chronic monocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004616 MONDO:0005898 False herpetic whitlow paronychia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004616 MONDO:0024294 False herpetic whitlow skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004616 MONDO:0024487 False herpetic whitlow nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004616 MONDO:0024487 False herpetic whitlow nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004619 MONDO:0005857 False measles morbillivirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004622 MONDO:0020674 False chronic intestinal vascular insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004625 MONDO:0018882 False phlebitis vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004627 MONDO:0002866 False duodenitis duodenal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004627 MONDO:0043579 False duodenitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004628 MONDO:0001126 False gastroduodenitis gastric ulcer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004628 MONDO:0004627 False gastroduodenitis duodenitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004628 MONDO:0004966 False gastroduodenitis gastritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004625 MONDO:0018882 False phlebitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004627 MONDO:0002866 False duodenitis duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004627 MONDO:0043579 False duodenitis enteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004628 MONDO:0001126 False gastroduodenitis gastric ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004628 MONDO:0004627 False gastroduodenitis duodenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004628 MONDO:0004966 False gastroduodenitis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004629 MONDO:0020683 False subacute delirium acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004629 MONDO:0045057 False subacute delirium delirium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004631 MONDO:0000649 False tongue cancer sensory system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004637 MONDO:0002352 False aryepiglottic fold cancer larynx cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004631 MONDO:0000649 False tongue cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004637 MONDO:0002352 False aryepiglottic fold cancer larynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004638 MONDO:0000612 False lymphosarcoma lymphatic system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004638 MONDO:0018908 False lymphosarcoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004638 MONDO:0018908 False lymphosarcoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004639 MONDO:0005313 False perinatal necrotizing enterocolitis necrotizing enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004642 MONDO:0000637 False tonsillar pillar cancer musculoskeletal system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004642 MONDO:0000637 False tonsillar pillar cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004642 MONDO:0003939 False tonsillar pillar cancer muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004643 MONDO:0020076 False myeloid leukemia myeloproliferative neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004644 MONDO:0007896 False subacute monocytic leukemia acute monocytic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004647 MONDO:0020665 False in situ carcinoma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004648 MONDO:0011057 False vascular dementia cerebrovascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004643 MONDO:0020076 False myeloid leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004644 MONDO:0007896 False subacute monocytic leukemia acute monocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004647 MONDO:0020665 False in situ carcinoma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004648 MONDO:0011057 False vascular dementia cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004649 MONDO:0024389 False anaerobic pneumonia anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004650 MONDO:0002714 False malignant carotid body paraganglioma central nervous system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004650 MONDO:0002714 False malignant carotid body paraganglioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004651 MONDO:0100329 False smallpox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004653 MONDO:0004643 False atypical chronic myeloid leukemia, BCR-ABL1 negative myeloid leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004653 MONDO:0004643 False atypical chronic myeloid leukemia, BCR-ABL1 negative myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004656 MONDO:0100329 False rubella primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004659 MONDO:0002466 False eye carcinoma in situ eye carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004670 MONDO:0005554 False lupus erythematosus rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004674 MONDO:0020283 False chorioretinitis uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004678 MONDO:0005982 False dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004678 MONDO:0024268 False dermatophytosis superficial mycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004679 MONDO:0043243 False leukoplakia of vagina leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004682 MONDO:0002131 False retromolar area cancer jaw cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004659 MONDO:0002466 False eye carcinoma in situ eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004670 MONDO:0005554 False lupus erythematosus rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004674 MONDO:0020283 False chorioretinitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004678 MONDO:0005982 False dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004678 MONDO:0024268 False dermatophytosis superficial mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004679 MONDO:0043243 False leukoplakia of vagina leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004682 MONDO:0002131 False retromolar area cancer jaw cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004682 MONDO:0037744 False retromolar area cancer neoplasm of retromolar area UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004685 MONDO:0044986 False Waldeyer's ring cancer lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004686 MONDO:0020213 False lattice corneal dystrophy stromal corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004687 MONDO:0001661 False severe nonproliferative diabetic retinopathy background diabetic retinopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004697 MONDO:0043243 False esophageal leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004698 MONDO:0005814 False intestine carcinoma in situ intestinal cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004698 MONDO:0006181 False intestine carcinoma in situ digestive system carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004702 MONDO:0043243 False uterine cervix leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004705 MONDO:0005167 False liver solitary fibrous tumor fibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004707 MONDO:0004725 False anal canal carcinoma in situ rectum carcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004686 MONDO:0020213 False lattice corneal dystrophy stromal corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004687 MONDO:0001661 False severe nonproliferative diabetic retinopathy background diabetic retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004697 MONDO:0043243 False esophageal leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004698 MONDO:0005814 False intestine carcinoma in situ intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004698 MONDO:0006181 False intestine carcinoma in situ digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004702 MONDO:0043243 False uterine cervix leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004705 MONDO:0005167 False liver solitary fibrous tumor fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004707 MONDO:0004725 False anal canal carcinoma in situ rectum carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004709 MONDO:0044996 False occipital lobe neoplasm cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004710 MONDO:0005213 False uterus carcinoma in situ uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004712 MONDO:0021201 False herpes simplex dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004715 MONDO:0018531 False liver carcinoma in situ carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004725 MONDO:0004698 False rectum carcinoma in situ intestine carcinoma in situ UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004731 MONDO:0002254 False central sleep apnea syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004732 MONDO:0005206 False kidney carcinoma in situ renal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004712 MONDO:0021201 False herpes simplex dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004715 MONDO:0018531 False liver carcinoma in situ carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004725 MONDO:0004698 False rectum carcinoma in situ intestine carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004731 MONDO:0002254 False central sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004732 MONDO:0005206 False kidney carcinoma in situ renal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004737 MONDO:0019222 False homocystinuria inborn disorder of methionine cycle and sulfur amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004737 MONDO:0037871 False homocystinuria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004737 MONDO:0037871 False homocystinuria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004741 MONDO:0017307 False tyrosinemia disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004742 MONDO:0022687 False primary cerebellar degeneration cerebellar degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004743 MONDO:0004737 False hyperhomocysteinemia homocystinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004745 MONDO:0005362 False priapism erectile dysfunction UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004742 MONDO:0022687 False primary cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004743 MONDO:0004737 False hyperhomocysteinemia homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004745 MONDO:0005362 False priapism erectile dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004746 MONDO:0000462 False myopathy of extraocular muscle eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004746 MONDO:0024458 False myopathy of extraocular muscle disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004751 MONDO:0000462 False disease of orbital part of eye adnexa eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004752 MONDO:0001340 False neurofibroma of the heart heart cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004752 MONDO:0021089 False neurofibroma of the heart peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004752 MONDO:0100342 False neurofibroma of the heart malignant glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004756 MONDO:0020641 False nasal cavity neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004757 MONDO:0006031 False chronic ethmoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004767 MONDO:0006882 False vesiculitis orchitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004768 MONDO:0003799 False keratoconjunctivitis conjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004769 MONDO:0021167 False orbital plasma cell granuloma myositis disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004770 MONDO:0005328 False exophthalmos eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004773 MONDO:0002970 False iridocyclitis ciliary body disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004773 MONDO:0006814 False iridocyclitis iritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004774 MONDO:0004853 False gonococcal iridocyclitis gonococcal endophthalmia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004774 MONDO:0017210 False gonococcal iridocyclitis infectious anterior uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004752 MONDO:0001340 False neurofibroma of the heart heart cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004752 MONDO:0021089 False neurofibroma of the heart peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004752 MONDO:0100342 False neurofibroma of the heart malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004756 MONDO:0020641 False nasal cavity neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004757 MONDO:0006031 False chronic ethmoidal sinusitis chronic rhinosinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004767 MONDO:0006882 False vesiculitis orchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004768 MONDO:0003799 False keratoconjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004769 MONDO:0021167 False orbital plasma cell granuloma myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004770 MONDO:0005328 False exophthalmos eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004773 MONDO:0002970 False iridocyclitis ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004773 MONDO:0006814 False iridocyclitis iritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004774 MONDO:0004853 False gonococcal iridocyclitis gonococcal endophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004774 MONDO:0017210 False gonococcal iridocyclitis infectious anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004777 MONDO:0020683 False acute laryngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004778 MONDO:0006882 False epididymo-orchitis orchitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004779 MONDO:0005550 False epididymitis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004779 MONDO:0021166 False epididymitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004779 MONDO:0005550 False epididymitis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004779 MONDO:0021166 False epididymitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004781 MONDO:0020683 False acute myocardial infarction acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004785 MONDO:0021166 False blepharitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004789 MONDO:0006322 False cholangitis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004789 MONDO:0021166 False cholangitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004792 MONDO:0002158 False cancer of isthmus of fallopian tube fallopian tube cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004795 MONDO:0021666 False otitis externa ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004795 MONDO:0021669 False otitis externa post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004796 MONDO:0021108 False infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004796 MONDO:0024619 False infectious meningitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004785 MONDO:0021166 False blepharitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004789 MONDO:0006322 False cholangitis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004789 MONDO:0021166 False cholangitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004792 MONDO:0002158 False cancer of isthmus of fallopian tube fallopian tube cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004795 MONDO:0021666 False otitis externa ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004795 MONDO:0021669 False otitis externa post-infectious disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004796 MONDO:0021108 False infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004796 MONDO:0024619 False infectious meningitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004803 MONDO:0004603 False disseminated eosinophilic collagen disease collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004804 MONDO:0021166 False dacryoadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004804 MONDO:0021166 False dacryoadenitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004804 MONDO:0024625 False dacryoadenitis disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004805 MONDO:0005046 False leukocyte disorder immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004808 MONDO:0002051 False benign mammary dysplasia integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004805 MONDO:0005046 False leukocyte disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004808 MONDO:0002051 False benign mammary dysplasia integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004810 MONDO:0020683 False acute ethmoiditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004812 MONDO:0020683 False acute dacryoadenitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004819 MONDO:0005235 False indolent plasma cell myeloma smoldering plasma cell myeloma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004821 MONDO:0020592 False nasopharyngeal disorder disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004822 MONDO:0003847 False bronchiectasis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004822 MONDO:0005002 False bronchiectasis chronic obstructive pulmonary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004829 MONDO:0002752 False Krukenberg carcinoma ovarian adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004830 MONDO:0021166 False fasciitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004842 MONDO:0020579 False stomatitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004819 MONDO:0005235 False indolent plasma cell myeloma smoldering plasma cell myeloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004821 MONDO:0020592 False nasopharyngeal disorder disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004822 MONDO:0003847 False bronchiectasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004822 MONDO:0005002 False bronchiectasis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0004829 MONDO:0002752 False Krukenberg carcinoma ovarian adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004830 MONDO:0021166 False fasciitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004842 MONDO:0020579 False stomatitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004842 MONDO:0044992 False stomatitis mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004844 MONDO:0043243 False oral mucosa leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004844 MONDO:0043243 False oral mucosa leukoplakia leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004844 MONDO:0044992 False oral mucosa leukoplakia mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004852 MONDO:0004853 False gonococcal keratitis gonococcal endophthalmia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004852 MONDO:0004853 False gonococcal keratitis gonococcal endophthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004852 MONDO:0021201 False gonococcal keratitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004852 MONDO:0023865 False gonococcal keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004852 MONDO:0024295 False gonococcal keratitis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004853 MONDO:0004277 False gonococcal endophthalmia gonorrhea UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004854 MONDO:0015455 False ophthalmia neonatorum gonococcal conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004853 MONDO:0004277 False gonococcal endophthalmia gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004854 MONDO:0015455 False ophthalmia neonatorum gonococcal conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004855 MONDO:0024876 False tenosynovitis tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004857 MONDO:0100010 False tendinitis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004860 MONDO:0044137 False vitreous disorder vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004862 MONDO:0005227 False vitreous abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004877 MONDO:0024277 False transient neonatal thrombocytopenia neonatal thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004882 MONDO:0024237 False angioid streaks of choroid inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004884 MONDO:0005559 False eye degenerative disorder neurodegenerative disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004884 MONDO:0005559 False eye degenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004885 MONDO:0043218 False choroidal sclerosis neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004889 MONDO:0008982 False total central choroidal atrophy central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004889 MONDO:0010557 False total central choroidal atrophy choroideremia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004889 MONDO:0010557 False total central choroidal atrophy choroideremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004890 MONDO:0008982 False partial central choroid dystrophy central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004902 MONDO:0004903 False interstitial keratitis deep keratitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004905 MONDO:0020598 False intestinal disaccharidase deficiency malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004902 MONDO:0004903 False interstitial keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004905 MONDO:0020598 False intestinal disaccharidase deficiency malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004905 MONDO:0037792 False intestinal disaccharidase deficiency carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004914 MONDO:0000473 False celiac artery stenosis from compression by median arcuate ligament of diaphragm arterial disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004914 MONDO:0003847 False celiac artery stenosis from compression by median arcuate ligament of diaphragm hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004917 MONDO:0006607 False internal hordeolum sebaceous gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004914 MONDO:0000473 False celiac artery stenosis from compression by median arcuate ligament of diaphragm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004914 MONDO:0003847 False celiac artery stenosis from compression by median arcuate ligament of diaphragm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004917 MONDO:0006607 False internal hordeolum sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004917 MONDO:0024481 False internal hordeolum skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004923 MONDO:0021166 False chronic inflammation of lacrimal passage inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004924 MONDO:0005631 False chronic canaliculitis actinomycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004924 MONDO:0005631 False chronic canaliculitis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004924 MONDO:0043885 False chronic canaliculitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004925 MONDO:0004923 False chronic dacryocystitis chronic inflammation of lacrimal passage UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004926 MONDO:0021166 False dacryocystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004925 MONDO:0004923 False chronic dacryocystitis chronic inflammation of lacrimal passage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004926 MONDO:0021166 False dacryocystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004926 MONDO:0044984 False dacryocystitis nasolacrimal duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004933 MONDO:0002254 False hypoplastic left heart syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004933 MONDO:0003847 False hypoplastic left heart syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004933 MONDO:0002254 False hypoplastic left heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004933 MONDO:0003847 False hypoplastic left heart syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004933 MONDO:0005584 False hypoplastic left heart syndrome congenital left-sided heart lesions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004934 MONDO:0005381 False periostitis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004934 MONDO:0021166 False periostitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004934 MONDO:0005381 False periostitis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004934 MONDO:0021166 False periostitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004940 MONDO:0020683 False acute female pelvic peritonitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004947 MONDO:0015759 False B-cell acute lymphoblastic leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004948 MONDO:0004967 False B-cell chronic lymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004947 MONDO:0015759 False B-cell acute lymphoblastic leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004948 MONDO:0004967 False B-cell chronic lymphocytic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004951 MONDO:0015979 False susceptibility to HIV infection hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004957 MONDO:0020596 False mucinous adenocarcinoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004960 MONDO:0005570 False monoclonal gammopathy hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004966 MONDO:0021166 False gastritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004957 MONDO:0020596 False mucinous adenocarcinoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004960 MONDO:0005570 False monoclonal gammopathy hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004966 MONDO:0021166 False gastritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004967 MONDO:0005168 False acute lymphoblastic leukemia neoplasm of immature B and T cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004971 MONDO:0004970 False adenoid cystic carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004973 MONDO:0056806 False adenosquamous lung carcinoma non-small cell squamous lung carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004975 MONDO:0001627 False Alzheimer disease dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004976 MONDO:0003182 False amyotrophic lateral sclerosis anterior horn disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004971 MONDO:0004970 False adenoid cystic carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004973 MONDO:0056806 False adenosquamous lung carcinoma non-small cell squamous lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004975 MONDO:0001627 False Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004976 MONDO:0003182 False amyotrophic lateral sclerosis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004980 MONDO:0100118 False atopic eczema hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004981 MONDO:0007263 False atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004982 MONDO:0021166 False pancreatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004983 MONDO:0003847 False spermatogenic failure hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004984 MONDO:0004953 False basal-like breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004984 MONDO:0005494 False basal-like breast carcinoma triple-negative breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004988 MONDO:0000653 False breast adenocarcinoma integumentary system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004981 MONDO:0007263 False atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004982 MONDO:0021166 False pancreatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004983 MONDO:0003847 False spermatogenic failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004984 MONDO:0004953 False basal-like breast carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004984 MONDO:0005494 False basal-like breast carcinoma triple-negative breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004988 MONDO:0000653 False breast adenocarcinoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004990 MONDO:0006116 False breast tumor luminal A or B breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004994 MONDO:0003939 False cardiomyopathy muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004995 MONDO:0700096 False cardiovascular disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005001 MONDO:0004966 False chronic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005002 MONDO:0002567 False chronic obstructive pulmonary disease tracheal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005003 MONDO:0004982 False chronic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005005 MONDO:0007763 False clear cell renal carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005006 MONDO:0002926 False clear cell sarcoma of kidney clear cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005009 MONDO:0005252 False congestive heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005010 MONDO:0005267 False coronary artery disorder heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005013 MONDO:0000515 False dedifferentiated chondrosarcoma bone chondrosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005015 MONDO:0001933 False diabetes mellitus endocrine pancreas disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005016 MONDO:0005066 False diabetic kidney disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005016 MONDO:0005300 False diabetic kidney disease chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005001 MONDO:0004966 False chronic gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005002 MONDO:0002567 False chronic obstructive pulmonary disease tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005003 MONDO:0004982 False chronic pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005005 MONDO:0007763 False clear cell renal carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005006 MONDO:0002926 False clear cell sarcoma of kidney clear cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005009 MONDO:0005252 False congestive heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005010 MONDO:0005267 False coronary artery disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005013 MONDO:0000515 False dedifferentiated chondrosarcoma bone chondrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005015 MONDO:0001933 False diabetes mellitus endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005016 MONDO:0005066 False diabetic kidney disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005016 MONDO:0005300 False diabetic kidney disease chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005025 MONDO:0024636 False endocarditis inflammation of heart layer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005026 MONDO:0001416 False endometrioid adenocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005029 MONDO:0002249 False essential thrombocythemia thrombocytosis disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005030 MONDO:0005917 False fetal growth restriction placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005033 MONDO:0000640 False ganglioneuroma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005033 MONDO:0006316 False ganglioneuroma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005033 MONDO:0021089 False ganglioneuroma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005026 MONDO:0001416 False endometrioid adenocarcinoma female reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005029 MONDO:0002249 False essential thrombocythemia thrombocytosis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005030 MONDO:0005917 False fetal growth restriction placenta disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005033 MONDO:0000640 False ganglioneuroma central nervous system primitive neuroectodermal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005033 MONDO:0006316 False ganglioneuroma neuroblastic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005033 MONDO:0021089 False ganglioneuroma peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005033 MONDO:0044993 False ganglioneuroma sympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005037 MONDO:0005814 False gastric intestinal type adenocarcinoma intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005037 MONDO:0005814 False gastric intestinal type adenocarcinoma intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005039 MONDO:0700096 False reproductive system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005043 MONDO:0045024 False hyperplasia cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005046 MONDO:0700096 False immune system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005050 MONDO:0004953 False invasive ductal and lobular carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005052 MONDO:0002254 False irritable bowel syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005055 MONDO:0016982 False Kaposi's sarcoma angiosarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005050 MONDO:0004953 False invasive ductal and lobular carcinoma invasive ductal breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005052 MONDO:0002254 False irritable bowel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005055 MONDO:0016982 False Kaposi's sarcoma angiosarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005060 MONDO:0002813 False liposarcoma lipomatous cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005065 MONDO:0006856 False mesothelioma mesothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005065 MONDO:0006856 False mesothelioma mesothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005066 MONDO:0700096 False metabolic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005068 MONDO:0024643 False myocardial infarction myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005068 MONDO:0024643 False myocardial infarction myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005070 MONDO:0023370 False neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005071 MONDO:0700096 False nervous system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005072 MONDO:0021635 False neuroblastoma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005073 MONDO:0021440 False melanocytic nevus benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005073 MONDO:0021583 False melanocytic nevus melanocytic skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005076 MONDO:0021166 False periodontitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005077 MONDO:0005087 False pertussis respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005073 MONDO:0021440 False melanocytic nevus benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005073 MONDO:0021583 False melanocytic nevus melanocytic skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005076 MONDO:0021166 False periodontitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005077 MONDO:0005087 False pertussis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005077 MONDO:0037872 False pertussis bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005079 MONDO:0045024 False polyp cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005081 MONDO:0003847 False preeclampsia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005081 MONDO:0045048 False preeclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005083 MONDO:0002406 False psoriasis dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005081 MONDO:0003847 False preeclampsia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005081 MONDO:0045048 False preeclampsia toxemia of pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005083 MONDO:0002406 False psoriasis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005083 MONDO:0100118 False psoriasis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005084 MONDO:0002025 False mental disorder psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005084 MONDO:0005560 False mental disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005085 MONDO:0021452 False pterygium benign neoplasm of cornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005086 MONDO:0004970 False renal cell carcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005085 MONDO:0021452 False pterygium benign neoplasm of cornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005086 MONDO:0004970 False renal cell carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005087 MONDO:0700096 False respiratory system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005091 MONDO:0005087 False severe acute respiratory syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005091 MONDO:0005087 False severe acute respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005091 MONDO:0020683 False severe acute respiratory syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005095 MONDO:0005046 False spondyloarthropathy immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005098 MONDO:0011057 False stroke disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005095 MONDO:0005046 False spondyloarthropathy immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005098 MONDO:0011057 False stroke disorder cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005099 MONDO:0005560 False subarachnoid hemorrhage brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005099 MONDO:0043218 False subarachnoid hemorrhage neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005100 MONDO:0005093 False systemic sclerosis skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005100 MONDO:0005093 False systemic sclerosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005109 MONDO:0021682 False HIV infectious disease viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005109 MONDO:0022034 False HIV infectious disease lentivirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005110 MONDO:0004994 False idiopathic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005110 MONDO:0004994 False idiopathic cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005110 MONDO:0700007 False idiopathic cardiomyopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005111 MONDO:0100329 False Epstein-Barr virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005114 MONDO:0021680 False pneumococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005115 MONDO:0017704 False temporal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005116 MONDO:0005113 False Whipple disease bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005116 MONDO:0043424 False Whipple disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005118 MONDO:0004805 False human granulocytic ehrlichiosis leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005116 MONDO:0005113 False Whipple disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005116 MONDO:0043424 False Whipple disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005118 MONDO:0004805 False human granulocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005118 MONDO:0025303 False human granulocytic ehrlichiosis anaplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005119 MONDO:0006923 False anthrax infection Bacillaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005124 MONDO:0020590 False leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005130 MONDO:0003847 False celiac disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005130 MONDO:0020598 False celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005124 MONDO:0020590 False leprosy mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005130 MONDO:0003847 False celiac disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005130 MONDO:0020598 False celiac disease malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005130 MONDO:0024635 False celiac disease small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005131 MONDO:0005213 False cervical carcinoma uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005132 MONDO:0100329 False cytomegalovirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005133 MONDO:0000931 False endometriosis endometrial disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005133 MONDO:0000931 False endometriosis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005134 MONDO:0000568 False experimental autoimmune encephalomyelitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005134 MONDO:0005156 False experimental autoimmune encephalomyelitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005134 MONDO:0006704 False experimental autoimmune encephalomyelitis CNS demyelinating autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20531,100 +20566,100 @@ MONDO:0005137 MONDO:0700096 False nutritional disorder human disease UNSUPPORTED MONDO:0005141 MONDO:0005113 False Pseudomonas infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005144 MONDO:0004976 False familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005144 MONDO:0024257 False familial amyotrophic lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005146 MONDO:0005379 False post-traumatic stress disorder neurotic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005147 MONDO:0000588 False type 1 diabetes mellitus autoimmune disorder of gastrointestinal tract UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005150 MONDO:0019118 False age-related macular degeneration inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005146 MONDO:0005379 False post-traumatic stress disorder neurotic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005147 MONDO:0000588 False type 1 diabetes mellitus autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005150 MONDO:0019118 False age-related macular degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005151 MONDO:0700096 False endocrine system disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005154 MONDO:0005151 False liver disorder endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005156 MONDO:0021166 False encephalomyelitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005154 MONDO:0005151 False liver disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005156 MONDO:0021166 False encephalomyelitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005161 MONDO:0100329 False human papilloma virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005172 MONDO:0002081 False skeletal system disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005173 MONDO:0002531 False actinic keratosis skin neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005180 MONDO:0003847 False Parkinson disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005180 MONDO:0021095 False Parkinson disease parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005173 MONDO:0002531 False actinic keratosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005180 MONDO:0003847 False Parkinson disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005180 MONDO:0021095 False Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005183 MONDO:0005179 False ovarian cystadenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005185 MONDO:0008383 False chronic childhood arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005185 MONDO:0008383 False chronic childhood arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005187 MONDO:0100329 False human herpesvirus 8 infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005188 MONDO:0043544 False iatrogenic Kaposi's sarcoma nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005188 MONDO:0043544 False iatrogenic Kaposi's sarcoma nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005189 MONDO:0011057 False internal carotid artery stenosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005194 MONDO:0100329 False Rotavirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005197 MONDO:0002082 False thymus neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005197 MONDO:0002334 False thymus neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005197 MONDO:0002082 False thymus neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005197 MONDO:0002334 False thymus neoplasm hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005200 MONDO:0005021 False viral dilated cardiomyopathy dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005200 MONDO:0021674 False viral dilated cardiomyopathy post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005202 MONDO:0005271 False atopic IgE-mediated allergic disorder allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005203 MONDO:0021178 False ischemia reperfusion injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005204 MONDO:8000010 False primary antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005207 MONDO:0005040 False choriocarcinoma germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005207 MONDO:0005040 False choriocarcinoma germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005213 MONDO:0002715 False uterine carcinoma uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005213 MONDO:0004993 False uterine carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005217 MONDO:0003847 False familial cardiomyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005217 MONDO:0004994 False familial cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005227 MONDO:0005550 False abscess infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005230 MONDO:0006617 False cellulitis vesiculobullous skin disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005227 MONDO:0005550 False abscess infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005230 MONDO:0006617 False cellulitis vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005230 MONDO:0024295 False cellulitis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005231 MONDO:0006011 False hepatitis C virus infection viral hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005236 MONDO:0005066 False xanthoma metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005231 MONDO:0006011 False hepatitis C virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005236 MONDO:0005066 False xanthoma metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005238 MONDO:0020561 False round cell liposarcoma myxoid/round cell liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005242 MONDO:0005113 False empyema bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005244 MONDO:0019056 False peripheral neuropathy neuromuscular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005246 MONDO:0003225 False osteomyelitis bone marrow disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005247 MONDO:0005113 False bacterial urinary tract infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005242 MONDO:0005113 False empyema bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005244 MONDO:0019056 False peripheral neuropathy neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005246 MONDO:0003225 False osteomyelitis bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005247 MONDO:0005113 False bacterial urinary tract infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005247 MONDO:0100338 False bacterial urinary tract infection urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005249 MONDO:0024355 False pneumonia respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005249 MONDO:0043905 False pneumonia pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005249 MONDO:0043905 False pneumonia pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005250 MONDO:0021166 False placental villitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005250 MONDO:0045013 False placental villitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005252 MONDO:0005267 False heart failure heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005252 MONDO:0005267 False heart failure heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005253 MONDO:0005252 False high output heart failure heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005262 MONDO:0005560 False central nervous system cyst brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005265 MONDO:0003847 False inflammatory bowel disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005265 MONDO:0005046 False inflammatory bowel disease immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005266 MONDO:0005066 False diabetic retinopathy metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005271 MONDO:0000605 False allergic disease hypersensitivity reaction disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005262 MONDO:0005560 False central nervous system cyst brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005265 MONDO:0003847 False inflammatory bowel disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005265 MONDO:0005046 False inflammatory bowel disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005266 MONDO:0005066 False diabetic retinopathy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005271 MONDO:0000605 False allergic disease hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005277 MONDO:0017181 False migraine disorder hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005277 MONDO:0043218 False migraine disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005280 MONDO:0021166 False prostatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005281 MONDO:0002515 False gallbladder disorder hepatobiliary disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005277 MONDO:0043218 False migraine disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005280 MONDO:0021166 False prostatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005281 MONDO:0002515 False gallbladder disorder hepatobiliary disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005284 MONDO:0005301 False chronic progressive multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005287 MONDO:0005071 False developmental disability nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005288 MONDO:0005020 False intestinal polyp intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005288 MONDO:0005079 False intestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005289 MONDO:0024653 False paranasal sinus neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005292 MONDO:0002269 False colitis gastroenteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005292 MONDO:0003409 False colitis colonic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005289 MONDO:0024653 False paranasal sinus neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005292 MONDO:0002269 False colitis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005292 MONDO:0003409 False colitis colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005293 MONDO:0005172 False flatfoot skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005295 MONDO:0005294 False intermittent vascular claudication peripheral vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005296 MONDO:0005087 False sleep apnea syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005297 MONDO:0005247 False urethritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005297 MONDO:0021166 False urethritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005295 MONDO:0005294 False intermittent vascular claudication peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005296 MONDO:0005087 False sleep apnea syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005297 MONDO:0005247 False urethritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005297 MONDO:0021166 False urethritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005298 MONDO:0800064 False osteoporosis osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005298 MONDO:0800486 False osteoporosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005301 MONDO:0005560 False multiple sclerosis brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005298 MONDO:0800486 False osteoporosis metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005301 MONDO:0005560 False multiple sclerosis brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005301 MONDO:0006704 False multiple sclerosis CNS demyelinating autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005302 MONDO:0007743 False attention deficit hyperactivity disorder, inattentive type attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005304 MONDO:0024477 False biliary tract neoplasm liver and intrahepatic bile duct neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005306 MONDO:0003937 False ankylosing spondylitis spondylitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005306 MONDO:0005095 False ankylosing spondylitis spondyloarthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005306 MONDO:0008383 False ankylosing spondylitis rheumatoid arthritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005302 MONDO:0007743 False attention deficit hyperactivity disorder, inattentive type attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005304 MONDO:0024477 False biliary tract neoplasm liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005306 MONDO:0003937 False ankylosing spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005306 MONDO:0005095 False ankylosing spondylitis spondyloarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005306 MONDO:0008383 False ankylosing spondylitis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005306 MONDO:0037847 False ankylosing spondylitis vertebral joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005309 MONDO:0005315 False spinal fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005309 MONDO:0037747 False spinal fracture spinal injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005310 MONDO:0005479 False atrial flutter atrial tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005310 MONDO:0005479 False atrial flutter atrial tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005312 MONDO:0024635 False pouchitis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005313 MONDO:0005020 False necrotizing enterocolitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005313 MONDO:0009172 False necrotizing enterocolitis enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005315 MONDO:0021178 False bone fracture injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005313 MONDO:0005020 False necrotizing enterocolitis intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005313 MONDO:0009172 False necrotizing enterocolitis enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005315 MONDO:0021178 False bone fracture injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005316 MONDO:0006706 False bacterial vaginosis Bifidobacteriales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005316 MONDO:0023557 False bacterial vaginosis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005318 MONDO:0004842 False canker sore stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005316 MONDO:0023557 False bacterial vaginosis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005318 MONDO:0004842 False canker sore stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005319 MONDO:0005315 False humerus fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005320 MONDO:0005315 False tibia fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005321 MONDO:0003847 False Fuchs' endothelial dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005321 MONDO:0003847 False Fuchs' endothelial dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005322 MONDO:0005315 False ulna fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005323 MONDO:0005113 False bacterial sexually transmitted disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005323 MONDO:0021681 False bacterial sexually transmitted disease sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005324 MONDO:0011786 False seasonal allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005324 MONDO:0011786 False seasonal allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005325 MONDO:0005315 False radius fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005326 MONDO:0005093 False sunburn skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005327 MONDO:0005315 False hip fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20635,172 +20670,172 @@ MONDO:0005334 MONDO:0100191 False hereditary nephritis inherited kidney disorder MONDO:0005335 MONDO:0024634 False colorectal neoplasm large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005336 MONDO:0020120 False myopathy skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005339 MONDO:0021208 False androgenetic alopecia endocrine alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005340 MONDO:0004907 False alopecia areata alopecia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005341 MONDO:0002529 False skin basal cell carcinoma skin squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005340 MONDO:0004907 False alopecia areata alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005341 MONDO:0002529 False skin basal cell carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005342 MONDO:0005334 False IgA glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005344 MONDO:0005786 False hepatitis B virus infection Hepadnaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005344 MONDO:0006011 False hepatitis B virus infection viral hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005345 MONDO:0003847 False hypospadias hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005345 MONDO:0005039 False hypospadias reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005344 MONDO:0006011 False hepatitis B virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005345 MONDO:0003847 False hypospadias hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005345 MONDO:0005039 False hypospadias reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005345 MONDO:0021147 False hypospadias disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005346 MONDO:0005281 False gallstones gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005347 MONDO:0005066 False hypertriglyceridemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005348 MONDO:0006603 False keloid reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005348 MONDO:0006603 False keloid reactive cutaneous fibrous lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005349 MONDO:0018751 False otosclerosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005349 MONDO:0037940 False otosclerosis inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005354 MONDO:0005231 False chronic hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005358 MONDO:0018087 False Dengue hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005358 MONDO:0018087 False Dengue hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005359 MONDO:0005154 False drug-induced liver injury liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005361 MONDO:0018438 False eosinophilic esophagitis eosinophilic gastrointestinal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005362 MONDO:0002036 False erectile dysfunction penile disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005362 MONDO:0002036 False erectile dysfunction penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005363 MONDO:0100191 False inherited focal segmental glomerulosclerosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005363 MONDO:0100313 False inherited focal segmental glomerulosclerosis focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005364 MONDO:0001104 False Graves disease toxic diffuse goiter UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005364 MONDO:0005397 False Graves disease goiter UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005364 MONDO:0001104 False Graves disease toxic diffuse goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005364 MONDO:0005397 False Graves disease goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005364 MONDO:0005623 False Graves disease autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005365 MONDO:0021945 False hearing loss disorder hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005365 MONDO:0021945 False hearing loss disorder hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005366 MONDO:0005344 False chronic hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005371 MONDO:0005084 False mood disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005372 MONDO:0005047 False male infertility infertility disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005372 MONDO:0005047 False male infertility infertility disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005373 MONDO:0005113 False meningococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005375 MONDO:0020641 False nasopharyngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005377 MONDO:0002254 False nephrotic syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005375 MONDO:0020641 False nasopharyngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005377 MONDO:0002254 False nephrotic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005381 MONDO:0005172 False bone disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005382 MONDO:0003847 False bone Paget disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005382 MONDO:0800486 False bone Paget disease metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005386 MONDO:0005294 False peripheral arterial disease peripheral vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005388 MONDO:0004868 False primary biliary cholangitis biliary tract disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005388 MONDO:0007329 False primary biliary cholangitis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005393 MONDO:0005066 False gout metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005382 MONDO:0003847 False bone Paget disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005382 MONDO:0800486 False bone Paget disease metabolic bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005386 MONDO:0005294 False peripheral arterial disease peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005388 MONDO:0004868 False primary biliary cholangitis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005388 MONDO:0007329 False primary biliary cholangitis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0005393 MONDO:0005066 False gout metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005398 MONDO:0005070 False upper aerodigestive tract neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005399 MONDO:0005385 False venous thromboembolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005399 MONDO:0005385 False venous thromboembolism vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005401 MONDO:0003409 False colonic neoplasm colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005404 MONDO:0003939 False myalgic encephalomeyelitis/chronic fatigue syndrome muscle tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005404 MONDO:0005071 False myalgic encephalomeyelitis/chronic fatigue syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005404 MONDO:0021094 False myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005406 MONDO:0024575 False gestational diabetes pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005412 MONDO:0002866 False duodenal ulcer duodenal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005404 MONDO:0003939 False myalgic encephalomeyelitis/chronic fatigue syndrome muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005404 MONDO:0005071 False myalgic encephalomeyelitis/chronic fatigue syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005404 MONDO:0021094 False myalgic encephalomeyelitis/chronic fatigue syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005406 MONDO:0024575 False gestational diabetes pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005412 MONDO:0002866 False duodenal ulcer duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005416 MONDO:0005178 False osteoarthritis, knee osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005417 MONDO:0005150 False wet macular degeneration age-related macular degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005429 MONDO:0024619 False prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005417 MONDO:0005150 False wet macular degeneration age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005429 MONDO:0024619 False prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005433 MONDO:0005567 False alcohol withdrawal substance withdrawal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0001967 False testicular dysgenesis syndrome gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005437 MONDO:0002329 False testicular dysgenesis syndrome testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005439 MONDO:0037748 False familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005440 MONDO:0003578 False embryonal carcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005441 MONDO:0021166 False otitis media inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005445 MONDO:0003847 False visceral leishmaniasis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005439 MONDO:0037748 False familial hypercholesterolemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005440 MONDO:0003578 False embryonal carcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005441 MONDO:0021166 False otitis media inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005445 MONDO:0003847 False visceral leishmaniasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005446 MONDO:0024610 False cutaneous leishmaniasis parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005451 MONDO:0005137 False eating disorder nutritional disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005453 MONDO:0024239 False congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005451 MONDO:0005137 False eating disorder nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005453 MONDO:0024239 False congenital heart disease congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005459 MONDO:0100120 False human African trypanosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005463 MONDO:0003803 False aortic valve calcification aortic valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005464 MONDO:0008375 False rhegmatogenous retinal detachment retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005464 MONDO:0008375 False rhegmatogenous retinal detachment retinal detachment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005466 MONDO:0003406 False hypersomnia sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005467 MONDO:0100366 False occupation-related stress disorder occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005468 MONDO:0000473 False hypotensive disorder arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005469 MONDO:0005468 False orthostatic hypotension hypotensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005473 MONDO:0006816 False temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005477 MONDO:0007263 False ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005473 MONDO:0006816 False temporomandibular joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005477 MONDO:0007263 False ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005478 MONDO:0005477 False torsades de pointes ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005479 MONDO:0007263 False atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005479 MONDO:0007263 False atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005481 MONDO:0005480 False contact dermatitis due to nickel contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005483 MONDO:0004907 False chemotherapy-induced alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005483 MONDO:0004907 False chemotherapy-induced alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005485 MONDO:0005084 False psychotic disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005486 MONDO:0003847 False tooth agenesis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005486 MONDO:0003847 False tooth agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005488 MONDO:0000726 False adolescent idiopathic scoliosis idiopathic scoliosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005491 MONDO:0004994 False Chagas cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005491 MONDO:0021669 False Chagas cardiomyopathy post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005492 MONDO:0002406 False urticaria dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005494 MONDO:0000616 False triple-negative breast carcinoma progesterone-receptor negative breast cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005494 MONDO:0000618 False triple-negative breast carcinoma Her2-receptor negative breast cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005494 MONDO:0006513 False triple-negative breast carcinoma estrogen-receptor negative breast cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005496 MONDO:0018531 False bile duct carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005492 MONDO:0002406 False urticaria dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005494 MONDO:0000616 False triple-negative breast carcinoma progesterone-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005494 MONDO:0000618 False triple-negative breast carcinoma Her2-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005494 MONDO:0006513 False triple-negative breast carcinoma estrogen-receptor negative breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005496 MONDO:0018531 False bile duct carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005497 MONDO:0021147 False bone development disease disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005498 MONDO:0024388 False botulism Clostridium infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005499 MONDO:0100342 False brain glioma malignant glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005499 MONDO:0100342 False brain glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005502 MONDO:0005763 False dengue disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005502 MONDO:0100120 False dengue disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005503 MONDO:0005084 False developmental disorder of mental health mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005507 MONDO:0002129 False gingival cancer bone cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0015356 False hereditary multiple osteochondromas hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005508 MONDO:0023603 False hereditary multiple osteochondromas hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005510 MONDO:0005240 False hydronephrosis kidney disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005514 MONDO:0003847 False nanophthalmia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005517 MONDO:0000376 False pharynx cancer respiratory system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005507 MONDO:0002129 False gingival cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005508 MONDO:0015356 False hereditary multiple osteochondromas hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005508 MONDO:0023603 False hereditary multiple osteochondromas hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005510 MONDO:0005240 False hydronephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005514 MONDO:0003847 False nanophthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005517 MONDO:0000376 False pharynx cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005525 MONDO:0004805 False T-cell leukemia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005525 MONDO:0005402 False T-cell leukemia lymphoid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005526 MONDO:0024388 False tetanus Clostridium infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005528 MONDO:0024298 False inborn vitamin metabolic disorder vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005532 MONDO:0024634 False Crohn's colitis large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005533 MONDO:0005101 False distal colitis ulcerative colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005534 MONDO:0000709 False ileocolitis Crohn ileitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005534 MONDO:0005292 False ileocolitis colitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005534 MONDO:0000709 False ileocolitis Crohn ileitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005534 MONDO:0005292 False ileocolitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005535 MONDO:0005011 False oral Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005535 MONDO:0006858 False oral Crohn disease mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0002269 False perianal Crohn disease gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0005011 False perianal Crohn disease Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005537 MONDO:0024634 False perianal Crohn disease large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005538 MONDO:0002519 False proctitis anus disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005538 MONDO:0005265 False proctitis inflammatory bowel disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005538 MONDO:0021166 False proctitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005538 MONDO:0002519 False proctitis anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005538 MONDO:0005265 False proctitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005538 MONDO:0021166 False proctitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005541 MONDO:0045002 False spondylolysis vertebral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005542 MONDO:0002254 False acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005542 MONDO:0002254 False acute coronary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005542 MONDO:0020683 False acute coronary syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005542 MONDO:0024644 False acute coronary syndrome myocardial ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005545 MONDO:0024313 False staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005546 MONDO:0024317 False fibromyalgia chronic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005542 MONDO:0024644 False acute coronary syndrome myocardial ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005545 MONDO:0024313 False staphylococcus aureus infection staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005546 MONDO:0024317 False fibromyalgia chronic pain syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005546 MONDO:0700007 False fibromyalgia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005549 MONDO:0005086 False renal cell adenocarcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005550 MONDO:0700096 False infectious disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005552 MONDO:0005328 False ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005552 MONDO:0005385 False ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005552 MONDO:0005328 False ocular vascular disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005552 MONDO:0005385 False ocular vascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005557 MONDO:0000226 False calcium metabolic disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005563 MONDO:0005617 False nut midline carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005567 MONDO:0002254 False substance withdrawal syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005563 MONDO:0005617 False nut midline carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005567 MONDO:0002254 False substance withdrawal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005570 MONDO:0700096 False hematologic disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005572 MONDO:0016541 False polycythemia due to hypoxia acquired secondary polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005576 MONDO:0007179 False cryoglobulinemia autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005578 MONDO:0006816 False arthritic joint disease arthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005578 MONDO:0021166 False arthritic joint disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005576 MONDO:0007179 False cryoglobulinemia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005578 MONDO:0006816 False arthritic joint disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005578 MONDO:0021166 False arthritic joint disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005579 MONDO:0015653 False epilepsy, idiopathic generalized monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005579 MONDO:0700007 False epilepsy, idiopathic generalized idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005582 MONDO:0005451 False binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005582 MONDO:0005451 False binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005583 MONDO:0000001 False non-human animal disease disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005593 MONDO:0005076 False chronic periodontitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005594 MONDO:0005093 False severe cutaneous adverse reaction skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005607 MONDO:0003781 False chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005607 MONDO:0005002 False chronic bronchitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005593 MONDO:0005076 False chronic periodontitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005594 MONDO:0005093 False severe cutaneous adverse reaction skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005607 MONDO:0003781 False chronic bronchitis bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005607 MONDO:0005002 False chronic bronchitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005608 MONDO:0100329 False varicella zoster infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005609 MONDO:0005608 False herpes zoster varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005609 MONDO:0006617 False herpes zoster vesiculobullous skin disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005609 MONDO:0005608 False herpes zoster varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005609 MONDO:0006617 False herpes zoster vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005609 MONDO:0021674 False herpes zoster post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005609 MONDO:0024294 False herpes zoster skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005609 MONDO:0100330 False herpes zoster disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005610 MONDO:0005516 False Kashin-Beck disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005614 MONDO:0018521 False pancreatic adenosquamous carcinoma squamous cell carcinoma of pancreas UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005616 MONDO:0027772 False pulmonary mucoepidermoid carcinoma lung colloid adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005614 MONDO:0018521 False pancreatic adenosquamous carcinoma squamous cell carcinoma of pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005616 MONDO:0027772 False pulmonary mucoepidermoid carcinoma lung colloid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005618 MONDO:0005084 False anxiety disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005621 MONDO:0011057 False vascular brain injury cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005621 MONDO:0043510 False vascular brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005623 MONDO:0000569 False autoimmune thyroid disease autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005623 MONDO:0004126 False autoimmune thyroid disease thyroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005624 MONDO:0005623 False atrophic thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005625 MONDO:0005560 False cerebral malaria brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005625 MONDO:0024619 False cerebral malaria central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005629 MONDO:0002428 False Acanthamoeba keratitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005625 MONDO:0005560 False cerebral malaria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005625 MONDO:0024619 False cerebral malaria central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005629 MONDO:0002428 False Acanthamoeba keratitis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005629 MONDO:0021747 False Acanthamoeba keratitis Acanthamoeba infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005629 MONDO:0024315 False Acanthamoeba keratitis parasitic endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005629 MONDO:0024315 False Acanthamoeba keratitis parasitic endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024913 False actinobacillosis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024950 False actinobacillosis horse disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024985 False actinobacillosis sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0024990 False actinobacillosis swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005630 MONDO:0700059 False actinobacillosis Actinobacillus infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005631 MONDO:0006921 False actinomycosis Actinomycetales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005632 MONDO:0002254 False acute chest syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005631 MONDO:0006921 False actinomycosis Actinomycetales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005632 MONDO:0002254 False acute chest syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005632 MONDO:0020683 False acute chest syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005634 MONDO:0001214 False acute hemorrhagic conjunctivitis acute conjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005634 MONDO:0043541 False acute hemorrhagic conjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005634 MONDO:0001214 False acute hemorrhagic conjunctivitis acute conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005634 MONDO:0043541 False acute hemorrhagic conjunctivitis viral conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005638 MONDO:0024417 False agnosia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005639 MONDO:0005109 False AIDS related complex HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005641 MONDO:0025371 False aleutian mink disease Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20808,11 +20843,11 @@ MONDO:0005641 MONDO:0100329 False aleutian mink disease primary viral infectious MONDO:0005642 MONDO:0005551 False atopic conjunctivitis eye allergy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005643 MONDO:0005985 False Alphavirus infectious disease Togaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005645 MONDO:0005943 False ancylostomiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005647 MONDO:0005161 False anogenital human papillomavirus infection human papilloma virus infection UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005647 MONDO:0005161 False anogenital human papillomavirus infection human papilloma virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005647 MONDO:0021682 False anogenital human papillomavirus infection viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005648 MONDO:0020674 False aortic valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005649 MONDO:0002269 False appendicitis gastroenteritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005649 MONDO:0056798 False appendicitis disorder of appendix UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005649 MONDO:0002269 False appendicitis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005649 MONDO:0056798 False appendicitis disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005650 MONDO:0100329 False Arenaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005651 MONDO:0005650 False arenavirus hemorrhagic fever Arenaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005651 MONDO:0018087 False arenavirus hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20824,59 +20859,59 @@ MONDO:0005658 MONDO:0100329 False Astroviridae infectious disease primary viral MONDO:0005660 MONDO:0005896 False Avulavirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005662 MONDO:0005704 False balantidiasis Ciliophora infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005662 MONDO:0024270 False balantidiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005663 MONDO:0005071 False Barre-Lieou syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005663 MONDO:0005071 False Barre-Lieou syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005664 MONDO:0006924 False bartonellosis Bartonellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005667 MONDO:0002866 False biliary dyskinesia duodenal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005667 MONDO:0002886 False biliary dyskinesia common bile duct disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005667 MONDO:0002866 False biliary dyskinesia duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005667 MONDO:0002886 False biliary dyskinesia common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005668 MONDO:0022736 False bird fancier's lung occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005669 MONDO:0000253 False black piedra piedra UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005671 MONDO:0005644 False Blastocystis infectious disease amebiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005671 MONDO:0024270 False Blastocystis infectious disease parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005673 MONDO:0020598 False blind loop syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005673 MONDO:0020598 False blind loop syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005675 MONDO:0024985 False border disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005676 MONDO:0005156 False borna disease encephalomyelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005676 MONDO:0005156 False borna disease encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005676 MONDO:0005856 False borna disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005676 MONDO:0024318 False borna disease viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005678 MONDO:0024913 False bovine respiratory disease complex cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005678 MONDO:0700104 False bovine respiratory disease complex respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005679 MONDO:0024913 False bovine virus diarrhea-mucosal disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005679 MONDO:0700203 False bovine virus diarrhea-mucosal disease pestivirus infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005684 MONDO:0005560 False bulbar polio brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005684 MONDO:0005560 False bulbar polio brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005687 MONDO:0100329 False Caliciviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005688 MONDO:0000314 False campylobacteriosis primary bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005688 MONDO:0000314 False campylobacteriosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005688 MONDO:0043424 False campylobacteriosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005691 MONDO:0005914 False cardiovirus infectious disease Picornaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005692 MONDO:0002052 False cat-scratch disease lymphadenitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005692 MONDO:0002052 False cat-scratch disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005695 MONDO:0003346 False central nervous system AIDS arteritis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005695 MONDO:0005109 False central nervous system AIDS arteritis HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005695 MONDO:0024318 False central nervous system AIDS arteritis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005696 MONDO:0024619 False central nervous system tuberculosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005697 MONDO:0005989 False cerebral toxoplasmosis toxoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005699 MONDO:0005631 False cervicofacial actinomycosis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005700 MONDO:0005608 False chickenpox varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005700 MONDO:0006617 False chickenpox vesiculobullous skin disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005699 MONDO:0005631 False cervicofacial actinomycosis actinomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005700 MONDO:0005608 False chickenpox varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005700 MONDO:0006617 False chickenpox vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005700 MONDO:0024294 False chickenpox skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005701 MONDO:0021697 False chlamydia trachomatis infectious disease chlamydia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005704 MONDO:0005550 False Ciliophora infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005706 MONDO:0005135 False coccidioidomycosis parasitic infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005706 MONDO:0005135 False coccidioidomycosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005708 MONDO:0100120 False Colorado tick fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005709 MONDO:0001040 False common cold nasopharyngitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005709 MONDO:0001040 False common cold nasopharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005711 MONDO:0700223 False congenital diaphragmatic hernia hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005712 MONDO:0002320 False congenital nystagmus congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005712 MONDO:0003847 False congenital nystagmus hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005715 MONDO:0002320 False congenital toxoplasmosis congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005715 MONDO:0024619 False congenital toxoplasmosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005712 MONDO:0002320 False congenital nystagmus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005712 MONDO:0003847 False congenital nystagmus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005715 MONDO:0002320 False congenital toxoplasmosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005715 MONDO:0024619 False congenital toxoplasmosis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005716 MONDO:0005249 False contagious pleuropneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005718 MONDO:0005876 False Coronaviridae infectious disease Nidovirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005719 MONDO:0005718 False Coronavinae infectious disease Coronaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005720 MONDO:0100329 False cowpox primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005721 MONDO:0005747 False coxsackievirus infectious disease enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005722 MONDO:0000263 False croup laryngotracheitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005722 MONDO:0003781 False croup bronchitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005722 MONDO:0004777 False croup acute laryngitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005723 MONDO:0005724 False Cryptococcal meningitis cryptococcosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005724 MONDO:0005135 False cryptococcosis parasitic infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005728 MONDO:0005087 False diaphragm disorder respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005722 MONDO:0000263 False croup laryngotracheitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005722 MONDO:0003781 False croup bronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005722 MONDO:0004777 False croup acute laryngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005723 MONDO:0005724 False Cryptococcal meningitis cryptococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005724 MONDO:0005135 False cryptococcosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005728 MONDO:0005087 False diaphragm disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005728 MONDO:0020120 False diaphragm disorder skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005730 MONDO:0700204 False Dictyocaulus infectious disease trichostrongyloidiasis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005731 MONDO:0005943 False dipetalonemiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20884,8 +20919,8 @@ MONDO:0005734 MONDO:0024950 False dourine horse disease UNSUPPORTED-MISSING UNSU MONDO:0005737 MONDO:0005762 False Ebola hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005738 MONDO:0042488 False echinococcosis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005740 MONDO:0005747 False Echovirus infectious disease enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005742 MONDO:0006032 False emphysematous cholecystitis cystitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005744 MONDO:0003578 False yolk sac tumor extragonadal nonseminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005742 MONDO:0006032 False emphysematous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005744 MONDO:0003578 False yolk sac tumor extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005745 MONDO:0005871 False Enoplea infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005746 MONDO:0005943 False enterobiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005747 MONDO:0005914 False enterovirus infectious disease Picornaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20895,33 +20930,33 @@ MONDO:0005750 MONDO:0024913 False ephemeral fever cattle disease UNSUPPORTED-MIS MONDO:0005752 MONDO:0005227 False epidural abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005752 MONDO:0006130 False epidural abscess central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005752 MONDO:0024619 False epidural abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005753 MONDO:0020579 False epiglottitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005753 MONDO:0020592 False epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005753 MONDO:0020579 False epiglottitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005753 MONDO:0020592 False epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005754 MONDO:0100030 False epilepsy with generalized tonic-clonic seizures adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700053 False equine infectious anemia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700170 False equine infectious anemia equine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005756 MONDO:0023369 False ethmoid sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005757 MONDO:0005982 False eumycotic mycetoma tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005761 MONDO:0001812 False filarial elephantiasis parasitic eyelid infestation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005761 MONDO:0005424 False filarial elephantiasis elephantiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005761 MONDO:0001812 False filarial elephantiasis parasitic eyelid infestation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005761 MONDO:0005424 False filarial elephantiasis elephantiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005761 MONDO:0100120 False filarial elephantiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005762 MONDO:0005856 False Filoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005763 MONDO:0100329 False Flaviviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005764 MONDO:0020082 False follicular dendritic cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005764 MONDO:0020082 False follicular dendritic cell sarcoma dendritic cell tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0024913 False foot and mouth disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0024990 False foot and mouth disease swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005765 MONDO:0700053 False foot and mouth disease viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0002041 False fungal lung infectious disease fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0005275 False fungal lung infectious disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005766 MONDO:0024355 False fungal lung infectious disease respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005767 MONDO:0005229 False gas gangrene bacterial infectious disease with sepsis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005767 MONDO:0006617 False gas gangrene vesiculobullous skin disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005767 MONDO:0005229 False gas gangrene bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005767 MONDO:0006617 False gas gangrene vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005767 MONDO:0023149 False gas gangrene infection due to clostridium perfringens UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005767 MONDO:0024295 False gas gangrene skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005768 MONDO:0043424 False gastrointestinal tuberculosis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005769 MONDO:0005609 False geniculate herpes zoster herpes zoster UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005769 MONDO:0005665 False geniculate herpes zoster Bell's palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005769 MONDO:0021666 False geniculate herpes zoster ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005769 MONDO:0005609 False geniculate herpes zoster herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005769 MONDO:0005665 False geniculate herpes zoster Bell's palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005769 MONDO:0021666 False geniculate herpes zoster ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005769 MONDO:0024318 False geniculate herpes zoster viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005770 MONDO:0021682 False genital herpes viral sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005770 MONDO:0100330 False genital herpes disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20931,16 +20966,16 @@ MONDO:0005777 MONDO:0030603 False granuloma inguinale Klebsiella infectious dise MONDO:0005779 MONDO:0005721 False hand, foot and mouth disease coxsackievirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005779 MONDO:0024294 False hand, foot and mouth disease skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005780 MONDO:0021641 False hantavirus infectious disease Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005784 MONDO:0005780 False hantavirus hemorrhagic fever with renal syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005784 MONDO:0100338 False hantavirus hemorrhagic fever with renal syndrome urinary tract infection UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005784 MONDO:0005780 False hantavirus hemorrhagic fever with renal syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005784 MONDO:0100338 False hantavirus hemorrhagic fever with renal syndrome urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005785 MONDO:0005896 False henipavirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005786 MONDO:0100329 False Hepadnaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005787 MONDO:0002251 False hepatic tuberculosis hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005787 MONDO:0002251 False hepatic tuberculosis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005787 MONDO:0006743 False hepatic tuberculosis endocrine tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005788 MONDO:0006011 False hepatitis E virus infection viral hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005789 MONDO:0006011 False hepatitis D virus infection viral hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005788 MONDO:0006011 False hepatitis E virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005789 MONDO:0006011 False hepatitis D virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005789 MONDO:0021674 False hepatitis D virus infection post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005790 MONDO:0006011 False hepatitis A virus infection viral hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005790 MONDO:0006011 False hepatitis A virus infection viral hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005792 MONDO:0004609 False herpes simplex virus gingivostomatitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005792 MONDO:0004842 False herpes simplex virus gingivostomatitis stomatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005794 MONDO:0100329 False Herpesviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20948,61 +20983,61 @@ MONDO:0005796 MONDO:0024571 False HIV enteropathy AIDS-related disorder UNSUPPOR MONDO:0005797 MONDO:0005109 False HIV wasting syndrome HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005797 MONDO:0024571 False HIV wasting syndrome AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005798 MONDO:0005363 False HIV-associated nephropathy inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005798 MONDO:0024571 False HIV-associated nephropathy AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005800 MONDO:0004785 False hordeolum blepharitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005800 MONDO:0005545 False hordeolum staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005798 MONDO:0024571 False HIV-associated nephropathy AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005800 MONDO:0004785 False hordeolum blepharitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005800 MONDO:0005545 False hordeolum staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005800 MONDO:0024295 False hordeolum skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005800 MONDO:0043885 False hordeolum eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005800 MONDO:0043885 False hordeolum eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005801 MONDO:0005108 False human T-lymphotropic virus 1 infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005803 MONDO:0005151 False hyperinsulinemic hypoglycemia endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005803 MONDO:0005151 False hyperinsulinemic hypoglycemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005804 MONDO:0006793 False hyperprolactinemia hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005807 MONDO:0003780 False idiopathic CD4-positive T-lymphocytopenia T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005807 MONDO:0003780 False idiopathic CD4-positive T-lymphocytopenia T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005807 MONDO:0700007 False idiopathic CD4-positive T-lymphocytopenia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005808 MONDO:0005701 False inclusion conjunctivitis chlamydia trachomatis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005808 MONDO:0006668 False inclusion conjunctivitis bacterial conjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005808 MONDO:0005701 False inclusion conjunctivitis chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005808 MONDO:0006668 False inclusion conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005809 MONDO:0700053 False infectious ectromelia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005810 MONDO:0005111 False infectious mononucleosis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005810 MONDO:0005111 False infectious mononucleosis Epstein-Barr virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005811 MONDO:0700053 False infectious myxomatosis viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005812 MONDO:0024352 False influenza viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005812 MONDO:0024352 False influenza viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005812 MONDO:0100329 False influenza primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005813 MONDO:0004380 False interdigitating dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005817 MONDO:0002254 False Kluver-Bucy syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005817 MONDO:0020067 False Kluver-Bucy syndrome infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005819 MONDO:0000368 False laryngeal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005813 MONDO:0004380 False interdigitating dendritic cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005817 MONDO:0002254 False Kluver-Bucy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005817 MONDO:0020067 False Kluver-Bucy syndrome infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005819 MONDO:0000368 False laryngeal tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005819 MONDO:0024355 False laryngeal tuberculosis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0005651 False Lassa fever arenavirus hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0044750 False Lassa fever lassa virus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005820 MONDO:0100120 False Lassa fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005824 MONDO:0004652 False Legionnaires' disease bacterial pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005824 MONDO:0004652 False Legionnaires' disease bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005825 MONDO:0021839 False leptospirosis spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005828 MONDO:0100120 False listeriosis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005829 MONDO:0024985 False louping ill sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005829 MONDO:0700053 False louping ill viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005830 MONDO:0005108 False lumpy skin disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005832 MONDO:0018882 False lymphangitis vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005832 MONDO:0018882 False lymphangitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005833 MONDO:0044986 False lymphatic system disorder lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005834 MONDO:0005701 False lymphogranuloma venereum chlamydia trachomatis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005834 MONDO:0005833 False lymphogranuloma venereum lymphatic system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005834 MONDO:0005701 False lymphogranuloma venereum chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005834 MONDO:0005833 False lymphogranuloma venereum lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005841 MONDO:0021580 False maxillary neoplasm neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005842 MONDO:0006858 False maxillary sinusitis mouth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005842 MONDO:0006858 False maxillary sinusitis mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005842 MONDO:0023369 False maxillary sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005844 MONDO:0004917 False chalazion internal hordeolum UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005845 MONDO:0019956 False meningoencephalitis encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005846 MONDO:0005135 False microsporidiosis parasitic infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005851 MONDO:0000568 False Miller Fisher syndrome autoimmune disorder of central nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005851 MONDO:0002254 False Miller Fisher syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005851 MONDO:0002427 False Miller Fisher syndrome cerebellar disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005854 MONDO:0005554 False mixed connective tissue disease rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005844 MONDO:0004917 False chalazion internal hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005845 MONDO:0019956 False meningoencephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005846 MONDO:0005135 False microsporidiosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005851 MONDO:0000568 False Miller Fisher syndrome autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005851 MONDO:0002254 False Miller Fisher syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005851 MONDO:0002427 False Miller Fisher syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005854 MONDO:0005554 False mixed connective tissue disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005856 MONDO:0100329 False Mononegavirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005857 MONDO:0005896 False morbillivirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005861 MONDO:0041806 False multidrug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005866 MONDO:0020590 False mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005866 MONDO:0020590 False mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005866 MONDO:0100120 False mycobacterium avium complex disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005868 MONDO:0012197 False myelophthisic anemia idiopathic aplastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005868 MONDO:0012197 False myelophthisic anemia idiopathic aplastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005871 MONDO:0004664 False Nematoda infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005874 MONDO:0024619 False neuroschistosomiasis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005876 MONDO:0100329 False Nidovirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005878 MONDO:0017137 False ocular onchocerciasis onchocerciasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005878 MONDO:0017137 False ocular onchocerciasis onchocerciasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005878 MONDO:0020947 False ocular onchocerciasis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005879 MONDO:0005989 False ocular toxoplasmosis toxoplasmosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005879 MONDO:0020947 False ocular toxoplasmosis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21010,18 +21045,18 @@ MONDO:0005880 MONDO:0005943 False oesophagostomiasis Rhabditida infectious disea MONDO:0005883 MONDO:0003543 False ophthalmic herpes zoster trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005883 MONDO:0005609 False ophthalmic herpes zoster herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005883 MONDO:0020010 False ophthalmic herpes zoster infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005885 MONDO:0005156 False optic neuritis encephalomyelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005885 MONDO:0005328 False optic neuritis eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005885 MONDO:0005156 False optic neuritis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005885 MONDO:0005328 False optic neuritis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005887 MONDO:0021166 False oral tuberculosis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005892 MONDO:0021206 False otitis media with effusion chronic non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005896 MONDO:0005856 False Paramyxoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005898 MONDO:0005093 False paronychia skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005900 MONDO:0021166 False parotitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005903 MONDO:0005904 False pericardial tuberculosis pericarditis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005904 MONDO:0021166 False pericarditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005906 MONDO:0005113 False peritonsillar abscess bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005906 MONDO:0005227 False peritonsillar abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005906 MONDO:0020592 False peritonsillar abscess disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005898 MONDO:0005093 False paronychia skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005900 MONDO:0021166 False parotitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005903 MONDO:0005904 False pericardial tuberculosis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005904 MONDO:0021166 False pericarditis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005906 MONDO:0005113 False peritonsillar abscess bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005906 MONDO:0005227 False peritonsillar abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005906 MONDO:0020592 False peritonsillar abscess disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005906 MONDO:0044986 False peritonsillar abscess lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0024913 False peste des petits ruminants infectious disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0024985 False peste des petits ruminants infectious disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21029,28 +21064,28 @@ MONDO:0005908 MONDO:0024990 False peste des petits ruminants infectious disease MONDO:0005908 MONDO:0025003 False peste des petits ruminants infectious disease goat disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005908 MONDO:0700053 False peste des petits ruminants infectious disease viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005909 MONDO:0005763 False pestivirus infectious disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005910 MONDO:0004805 False phagocyte bactericidal dysfunction leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005910 MONDO:0004805 False phagocyte bactericidal dysfunction leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005910 MONDO:0024627 False phagocyte bactericidal dysfunction phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005912 MONDO:0005303 False phencyclidine abuse drug dependence UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005912 MONDO:0005303 False phencyclidine abuse drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005913 MONDO:0100120 False phlebotomus fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005913 MONDO:0100329 False phlebotomus fever primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005914 MONDO:0100329 False Picornaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005915 MONDO:0005982 False pityriasis versicolor tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005915 MONDO:0006547 False pityriasis versicolor exanthem UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005917 MONDO:0024575 False placenta disorder pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005922 MONDO:0000986 False pleural tuberculosis pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005915 MONDO:0005982 False pityriasis versicolor tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005915 MONDO:0006547 False pityriasis versicolor exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005917 MONDO:0024575 False placenta disorder pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005922 MONDO:0000986 False pleural tuberculosis pleurisy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005922 MONDO:0024355 False pleural tuberculosis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005923 MONDO:0002041 False Pneumocystis infectious disease fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005925 MONDO:0005113 False pneumonic pasteurellosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005927 MONDO:0100329 False polyomavirus infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005932 MONDO:0005108 False pseudorabies viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005936 MONDO:0005249 False recurrent pneumonia pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005938 MONDO:0000369 False renal tuberculosis abdominal tuberculosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005938 MONDO:0005247 False renal tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005938 MONDO:0000369 False renal tuberculosis abdominal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005938 MONDO:0005247 False renal tuberculosis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005939 MONDO:0005108 False Reoviridae infectious disease viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005940 MONDO:0005896 False respirovirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005942 MONDO:0005554 False Reye syndrome rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005942 MONDO:0005560 False Reye syndrome brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005942 MONDO:0005554 False Reye syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005942 MONDO:0005560 False Reye syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005943 MONDO:0005871 False Rhabditida infectious disease Nematoda infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005944 MONDO:0005856 False Rhabdoviridae infectious disease Mononegavirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005945 MONDO:0030603 False rhinoscleroma Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21060,374 +21095,374 @@ MONDO:0005949 MONDO:0100329 False roseolovirus infectious disease primary viral MONDO:0005950 MONDO:0000827 False Salmonella gastroenteritis salmonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0002269 False Salmonella gastroenteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005950 MONDO:0043424 False Salmonella gastroenteritis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005952 MONDO:0021680 False scarlet fever streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005952 MONDO:0021680 False scarlet fever streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005953 MONDO:0021581 False scirrhous adenocarcinoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005956 MONDO:0005570 False septicemic plague hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005957 MONDO:0005943 False setariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005961 MONDO:0021166 False sinusitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005961 MONDO:0021166 False sinusitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005962 MONDO:0005172 False skeletal tuberculosis skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005963 MONDO:0042488 False sparganosis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005964 MONDO:0023369 False sphenoid sinusitis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005965 MONDO:0000812 False spinal stenosis vertebral column disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005965 MONDO:0000812 False spinal stenosis vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005969 MONDO:0005763 False st. Louis encephalitis Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005969 MONDO:0020601 False st. Louis encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005970 MONDO:0004652 False staphylococcal pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005970 MONDO:0024313 False staphylococcal pneumonia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005971 MONDO:0024313 False staphyloenterotoxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005971 MONDO:0024313 False staphyloenterotoxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005972 MONDO:0005114 False streptococcal pneumonia pneumococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005973 MONDO:0005135 False Strongylida infectious disease parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005974 MONDO:0005943 False strongyloidiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005976 MONDO:0007000 False syphilis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005977 MONDO:0020010 False tabes dorsalis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005979 MONDO:0002254 False thoracic outlet syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005976 MONDO:0007000 False syphilis Treponema infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005977 MONDO:0020010 False tabes dorsalis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005979 MONDO:0002254 False thoracic outlet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005981 MONDO:0020010 False tick paralysis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005982 MONDO:0000254 False tinea infection cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005982 MONDO:0021201 False tinea infection skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005983 MONDO:0005982 False tinea favosa tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005982 MONDO:0021201 False tinea infection skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005983 MONDO:0005982 False tinea favosa tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005985 MONDO:0100329 False Togaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005986 MONDO:0005876 False torovirus infectious disease Nidovirales infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005987 MONDO:0005656 False toxascariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005988 MONDO:0005656 False toxocariasis Ascaridida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005990 MONDO:0005113 False tracheitis bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005990 MONDO:0020579 False tracheitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005990 MONDO:0021925 False tracheitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005990 MONDO:0005113 False tracheitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005990 MONDO:0020579 False tracheitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005990 MONDO:0021925 False tracheitis tracheobronchitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005990 MONDO:0024355 False tracheitis respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005991 MONDO:0100120 False trench fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005993 MONDO:0100338 False Trichomonas vaginitis urogenital infection urinary tract infection UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005993 MONDO:0100338 False Trichomonas vaginitis urogenital infection urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005995 MONDO:0005943 False trichostrongylosis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005996 MONDO:0005745 False trichuriasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005997 MONDO:0005561 False tricuspid valve stenosis aortic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005999 MONDO:0005242 False tuberculous empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005999 MONDO:0005922 False tuberculous empyema pleural tuberculosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006000 MONDO:0004522 False tuberculous peritonitis peritonitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006001 MONDO:0100338 False urinary schistosomiasis urinary tract infection UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006004 MONDO:0011786 False vasomotor rhinitis allergic rhinitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006005 MONDO:0005156 False Venezuelan equine encephalitis encephalomyelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005997 MONDO:0005561 False tricuspid valve stenosis aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005999 MONDO:0005242 False tuberculous empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005999 MONDO:0005922 False tuberculous empyema pleural tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006000 MONDO:0004522 False tuberculous peritonitis peritonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006001 MONDO:0100338 False urinary schistosomiasis urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006004 MONDO:0011786 False vasomotor rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006005 MONDO:0005156 False Venezuelan equine encephalitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006005 MONDO:0005643 False Venezuelan equine encephalitis Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006005 MONDO:0018087 False Venezuelan equine encephalitis viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006005 MONDO:0018087 False Venezuelan equine encephalitis viral hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006005 MONDO:0024318 False Venezuelan equine encephalitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006005 MONDO:0100120 False Venezuelan equine encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006007 MONDO:0006026 False vesicoureteral reflux urinary bladder disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006008 MONDO:0002122 False vestibular neuronitis neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006009 MONDO:0020067 False viral encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006007 MONDO:0006026 False vesicoureteral reflux urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006008 MONDO:0002122 False vestibular neuronitis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006009 MONDO:0020067 False viral encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006009 MONDO:0024318 False viral encephalitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006009 MONDO:0100329 False viral encephalitis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006010 MONDO:0024934 False salmonid viral hemorrhagic septicemia fish disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006010 MONDO:0700072 False salmonid viral hemorrhagic septicemia Rhabdoviridae infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006011 MONDO:0043424 False viral hepatitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006011 MONDO:0043424 False viral hepatitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006011 MONDO:0100329 False viral hepatitis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006012 MONDO:0024352 False viral pneumonia viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006012 MONDO:0100329 False viral pneumonia primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006013 MONDO:0024985 False visna disease sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006013 MONDO:0700049 False visna disease infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006014 MONDO:0000879 False vulvovaginal candidiasis cutaneous candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006014 MONDO:0007019 False vulvovaginal candidiasis vulvovaginitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006014 MONDO:0023557 False vulvovaginal candidiasis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006015 MONDO:0002254 False Waterhouse-Friderichsen syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006018 MONDO:0005554 False Wissler syndrome rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006019 MONDO:0005976 False yaws syphilis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006014 MONDO:0000879 False vulvovaginal candidiasis cutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006014 MONDO:0007019 False vulvovaginal candidiasis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006014 MONDO:0023557 False vulvovaginal candidiasis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006015 MONDO:0002254 False Waterhouse-Friderichsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006018 MONDO:0005554 False Wissler syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006019 MONDO:0005976 False yaws syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006022 MONDO:0041261 False acidosis disorder disorder of acid-base balance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006031 MONDO:0005961 False chronic rhinosinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006032 MONDO:0021166 False cystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006033 MONDO:0003869 False diffuse intrinsic pontine glioma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006034 MONDO:0006230 False gastric adenosquamous carcinoma gastric squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006036 MONDO:0002082 False granulosa cell tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006038 MONDO:0005292 False indeterminate colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006039 MONDO:0005292 False infectious colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006039 MONDO:0043424 False infectious colitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006031 MONDO:0005961 False chronic rhinosinusitis sinusitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006032 MONDO:0021166 False cystitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006033 MONDO:0003869 False diffuse intrinsic pontine glioma childhood brain stem glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006034 MONDO:0006230 False gastric adenosquamous carcinoma gastric squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006036 MONDO:0002082 False granulosa cell tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006038 MONDO:0005292 False indeterminate colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006039 MONDO:0005292 False infectious colitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006039 MONDO:0043424 False infectious colitis digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006040 MONDO:0005066 False lactic acidosis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006042 MONDO:0000271 False meningeal tuberculosis tuberculous salpingitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006042 MONDO:0005696 False meningeal tuberculosis central nervous system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006042 MONDO:0006670 False meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006044 MONDO:0002286 False nephrosclerosis renal artery disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006042 MONDO:0005696 False meningeal tuberculosis central nervous system tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006042 MONDO:0006670 False meningeal tuberculosis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006044 MONDO:0002286 False nephrosclerosis renal artery disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006065 MONDO:0100345 False lactose intolerance adult type lactose intolerance UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006068 MONDO:0045058 False ACTH-producing pituitary gland adenoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006069 MONDO:0045058 False ACTH-producing pituitary gland carcinoma ACTH-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006071 MONDO:0000624 False adenofibroma benign female reproductive system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006071 MONDO:0005167 False adenofibroma fibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006075 MONDO:0021511 False adrenal gland myelolipoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006076 MONDO:0000551 False adrenal gland neuroblastoma retroperitoneal neuroblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006077 MONDO:0005043 False adrenal medullary hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006077 MONDO:0005495 False adrenal medullary hyperplasia adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006071 MONDO:0000624 False adenofibroma benign female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006071 MONDO:0005167 False adenofibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006075 MONDO:0021511 False adrenal gland myelolipoma benign neoplasm of adrenal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006076 MONDO:0000551 False adrenal gland neuroblastoma retroperitoneal neuroblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006077 MONDO:0005043 False adrenal medullary hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006077 MONDO:0005495 False adrenal medullary hyperplasia adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006078 MONDO:0017341 False AIDS-related primary central nervous system lymphoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006079 MONDO:0002415 False ameloblastic carcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006079 MONDO:0006181 False ameloblastic carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006081 MONDO:0002167 False anal melanoma rectum malignant melanoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006082 MONDO:0018515 False anal squamous cell carcinoma squamous cell carcinoma of rectum UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006079 MONDO:0006181 False ameloblastic carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006081 MONDO:0002167 False anal melanoma rectum malignant melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006082 MONDO:0018515 False anal squamous cell carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006086 MONDO:0021581 False angiomyxoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006087 MONDO:0006028 False appendix adenocarcinoma cecum adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006088 MONDO:0000527 False appendix adenoma colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006087 MONDO:0006028 False appendix adenocarcinoma cecum adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006088 MONDO:0000527 False appendix adenoma colon adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006088 MONDO:0018511 False appendix adenoma epithelial tumor of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006090 MONDO:0006249 False appendix hyperplastic polyp hyperplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006090 MONDO:0021392 False appendix hyperplastic polyp polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006090 MONDO:0006249 False appendix hyperplastic polyp hyperplastic polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006090 MONDO:0021392 False appendix hyperplastic polyp polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006090 MONDO:0056798 False appendix hyperplastic polyp disorder of appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006091 MONDO:0006126 False appendix neuroendocrine tumor G1 cecum neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006092 MONDO:0000525 False appendix villous adenoma cecum villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006094 MONDO:0003274 False Askin tumor thoracic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006091 MONDO:0006126 False appendix neuroendocrine tumor G1 cecum neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006092 MONDO:0000525 False appendix villous adenoma cecum villous adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006094 MONDO:0003274 False Askin tumor thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006096 MONDO:0000931 False atypical endometrial hyperplasia endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006096 MONDO:0005043 False atypical endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006098 MONDO:0000653 False atypical lobular breast hyperplasia integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0021468 False benign adrenal gland pheochromocytoma benign neoplasm of adrenal medulla UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006103 MONDO:0036976 False benign adrenal gland pheochromocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0021468 False benign adrenal gland pheochromocytoma benign neoplasm of adrenal medulla UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006103 MONDO:0036976 False benign adrenal gland pheochromocytoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006103 MONDO:0056804 False benign adrenal gland pheochromocytoma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006104 MONDO:0000627 False benign carotid body paraganglioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006104 MONDO:0024286 False benign carotid body paraganglioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006104 MONDO:0000627 False benign carotid body paraganglioma benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006104 MONDO:0024286 False benign carotid body paraganglioma benign blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006104 MONDO:0056804 False benign carotid body paraganglioma benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006107 MONDO:0000627 False benign thyroid gland neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006107 MONDO:0000627 False benign thyroid gland neoplasm benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006117 MONDO:0000621 False breast diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006117 MONDO:0000653 False breast diffuse large B-cell lymphoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006118 MONDO:0002051 False breast fibrosis integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006118 MONDO:0021100 False breast fibrosis breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006118 MONDO:0002051 False breast fibrosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006118 MONDO:0021100 False breast fibrosis breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006119 MONDO:0000653 False breast mucosa-associated lymphoid tissue lymphoma integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006120 MONDO:0003240 False C-cell hyperplasia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006120 MONDO:0005043 False C-cell hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006122 MONDO:0002691 False calcifying nested epithelial stromal tumor of the liver liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006132 MONDO:0002951 False cervical adenoid basal carcinoma skin adenoid basal cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006132 MONDO:0006143 False cervical adenoid basal carcinoma cervical squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006133 MONDO:0005153 False cervical adenoid cystic carcinoma cervical adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006134 MONDO:0005153 False cervical adenosquamous carcinoma cervical adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006134 MONDO:0006143 False cervical adenosquamous carcinoma cervical squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006120 MONDO:0003240 False C-cell hyperplasia thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006120 MONDO:0005043 False C-cell hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006122 MONDO:0002691 False calcifying nested epithelial stromal tumor of the liver liver cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006132 MONDO:0002951 False cervical adenoid basal carcinoma skin adenoid basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006132 MONDO:0006143 False cervical adenoid basal carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006133 MONDO:0005153 False cervical adenoid cystic carcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006134 MONDO:0005153 False cervical adenosquamous carcinoma cervical adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006134 MONDO:0006143 False cervical adenosquamous carcinoma cervical squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006139 MONDO:0002256 False cervical metaplasia cervix disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006146 MONDO:0006499 False chondroid hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006146 MONDO:0006499 False chondroid hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0000621 False colon Burkitt lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006150 MONDO:0023113 False colon Burkitt lymphoma familial colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006151 MONDO:0003409 False colon dysplasia colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006152 MONDO:0005401 False colon inflammatory polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006152 MONDO:0021400 False colon inflammatory polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0005401 False colon juvenile polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0006161 False colon juvenile polyp colorectal juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006153 MONDO:0021400 False colon juvenile polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006157 MONDO:0006165 False colorectal adenosquamous carcinoma colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006152 MONDO:0005401 False colon inflammatory polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006152 MONDO:0021400 False colon inflammatory polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0005401 False colon juvenile polyp colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0006161 False colon juvenile polyp colorectal juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006153 MONDO:0021400 False colon juvenile polyp polyp of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006157 MONDO:0006165 False colorectal adenosquamous carcinoma colorectal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006158 MONDO:0000621 False colorectal diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0005335 False colorectal hamartoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0006231 False colorectal hamartoma gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006160 MONDO:0021392 False colorectal hamartoma polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006161 MONDO:0006160 False colorectal juvenile polyp colorectal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006161 MONDO:0006258 False colorectal juvenile polyp juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006169 MONDO:0005043 False complex endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0005335 False colorectal hamartoma colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0006231 False colorectal hamartoma gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006160 MONDO:0021392 False colorectal hamartoma polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006161 MONDO:0006160 False colorectal juvenile polyp colorectal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006161 MONDO:0006258 False colorectal juvenile polyp juvenile polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006169 MONDO:0005043 False complex endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006170 MONDO:0000462 False conjunctival disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006173 MONDO:0010150 False conjunctival squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006173 MONDO:0010150 False conjunctival squamous cell carcinoma head and neck squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006188 MONDO:0004805 False EBV-positive T-cell lymphoproliferative disorder of childhood leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006193 MONDO:0005043 False endometrial hyperplasia without atypia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006195 MONDO:0000931 False endometrial polyp endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006193 MONDO:0005043 False endometrial hyperplasia without atypia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006195 MONDO:0000931 False endometrial polyp endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006202 MONDO:0003549 False extrahepatic bile duct adenosquamous carcinoma adenosquamous bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006202 MONDO:0006203 False extrahepatic bile duct adenosquamous carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006202 MONDO:0006203 False extrahepatic bile duct adenosquamous carcinoma extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006203 MONDO:0003500 False extrahepatic bile duct squamous cell carcinoma squamous cell bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006207 MONDO:0006206 False fallopian tube carcinosarcoma fallopian tube carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006207 MONDO:0006206 False fallopian tube carcinosarcoma fallopian tube carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006209 MONDO:0021581 False fibroblastic neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006211 MONDO:0024478 False fibrous hamartoma of infancy mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006212 MONDO:0024483 False flat urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006217 MONDO:0006220 False gallbladder adenosquamous carcinoma gallbladder squamous cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006224 MONDO:0006231 False gastric hamartomatous polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006224 MONDO:0021085 False gastric hamartomatous polyp gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006211 MONDO:0024478 False fibrous hamartoma of infancy mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006212 MONDO:0024483 False flat urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006217 MONDO:0006220 False gallbladder adenosquamous carcinoma gallbladder squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006224 MONDO:0006231 False gastric hamartomatous polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006224 MONDO:0021085 False gastric hamartomatous polyp gastric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006225 MONDO:0000621 False gastric mantle cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006225 MONDO:0042493 False gastric mantle cell lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006225 MONDO:0042493 False gastric mantle cell lymphoma gastric non-hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006226 MONDO:0018502 False gastric mucosa-associated lymphoid tissue lymphoma hereditary gastric cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006231 MONDO:0006499 False gastrointestinal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006231 MONDO:0021223 False gastrointestinal hamartoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006231 MONDO:0024292 False gastrointestinal hamartoma gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006232 MONDO:0002402 False giant cell tumor of soft tissue malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006232 MONDO:0005089 False giant cell tumor of soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006231 MONDO:0006499 False gastrointestinal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006231 MONDO:0021223 False gastrointestinal hamartoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006231 MONDO:0024292 False gastrointestinal hamartoma gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006232 MONDO:0002402 False giant cell tumor of soft tissue malignant giant cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006232 MONDO:0005089 False giant cell tumor of soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006238 MONDO:0019927 False growth hormone-producing pituitary gland adenoma growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006241 MONDO:0024477 False hepatic granuloma liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006248 MONDO:0002872 False hydatidiform mole trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006248 MONDO:0003847 False hydatidiform mole hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006248 MONDO:0021218 False hydatidiform mole placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006249 MONDO:0005079 False hyperplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006250 MONDO:0006155 False ileal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006257 MONDO:0006155 False jejunal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006258 MONDO:0006231 False juvenile polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006248 MONDO:0002872 False hydatidiform mole trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006248 MONDO:0003847 False hydatidiform mole hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006248 MONDO:0021218 False hydatidiform mole placenta neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006249 MONDO:0005079 False hyperplastic polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006250 MONDO:0006155 False ileal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006257 MONDO:0006155 False jejunal neuroendocrine tumor G1 colon neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006258 MONDO:0006231 False juvenile polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006268 MONDO:0000621 False liver diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006268 MONDO:0007256 False liver diffuse large B-cell lymphoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006276 MONDO:0005138 False lung inflammatory myofibroblastic tumor lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006279 MONDO:0003050 False lung sarcomatoid carcinoma lung large cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006280 MONDO:0003194 False lung sclerosing hemangioma hemangioma of lung UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006281 MONDO:0005092 False lung signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006282 MONDO:0004993 False lymphangiosarcoma carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006282 MONDO:0005089 False lymphangiosarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006283 MONDO:0003050 False lymphoepithelioma-like lung carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006288 MONDO:0002120 False malignant adrenal gland pheochromocytoma neuroendocrine carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006288 MONDO:0002714 False malignant adrenal gland pheochromocytoma central nervous system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006288 MONDO:0004202 False malignant adrenal gland pheochromocytoma adrenal medulla carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0002095 False malignant jugulotympanic paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006268 MONDO:0007256 False liver diffuse large B-cell lymphoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006276 MONDO:0005138 False lung inflammatory myofibroblastic tumor lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006279 MONDO:0003050 False lung sarcomatoid carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006280 MONDO:0003194 False lung sclerosing hemangioma hemangioma of lung UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006281 MONDO:0005092 False lung signet ring cell carcinoma signet ring cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006282 MONDO:0004993 False lymphangiosarcoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006282 MONDO:0005089 False lymphangiosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006283 MONDO:0003050 False lymphoepithelioma-like lung carcinoma lung large cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006288 MONDO:0002120 False malignant adrenal gland pheochromocytoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006288 MONDO:0002714 False malignant adrenal gland pheochromocytoma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006288 MONDO:0004202 False malignant adrenal gland pheochromocytoma adrenal medulla carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006291 MONDO:0002095 False malignant jugulotympanic paraganglioma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006291 MONDO:0002132 False malignant jugulotympanic paraganglioma skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0002714 False malignant jugulotympanic paraganglioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0004634 False malignant jugulotympanic paraganglioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0024499 False malignant jugulotympanic paraganglioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006291 MONDO:0043218 False malignant jugulotympanic paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006292 MONDO:0005065 False malignant mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006294 MONDO:0000376 False pleural cancer respiratory system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006306 MONDO:0005853 False mixed lobular and ductal breast carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006311 MONDO:0020076 False myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006312 MONDO:0001572 False myofibroma leiomyoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006313 MONDO:0021230 False nabothian cyst uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006314 MONDO:0002232 False nasal cavity polyp nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006314 MONDO:0005079 False nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006322 MONDO:0002887 False non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006322 MONDO:0005151 False non-neoplastic bile duct disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006328 MONDO:0005070 False odontogenic cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006329 MONDO:0003142 False olfactory neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006335 MONDO:0005461 False ovarian endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006347 MONDO:0005192 False pancreatic large cell neuroendocrine carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0002714 False malignant jugulotympanic paraganglioma central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0004634 False malignant jugulotympanic paraganglioma vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0024499 False malignant jugulotympanic paraganglioma vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006291 MONDO:0043218 False malignant jugulotympanic paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006292 MONDO:0005065 False malignant mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006294 MONDO:0000376 False pleural cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006306 MONDO:0005853 False mixed lobular and ductal breast carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006311 MONDO:0020076 False myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006312 MONDO:0001572 False myofibroma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006313 MONDO:0021230 False nabothian cyst uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006314 MONDO:0002232 False nasal cavity polyp nasal cavity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006314 MONDO:0005079 False nasal cavity polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006322 MONDO:0002887 False non-neoplastic bile duct disorder bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006322 MONDO:0005151 False non-neoplastic bile duct disorder endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006328 MONDO:0005070 False odontogenic cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006329 MONDO:0003142 False olfactory neuroblastoma intracranial primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006335 MONDO:0005461 False ovarian endometrioid adenocarcinoma endometrium adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006347 MONDO:0005192 False pancreatic large cell neuroendocrine carcinoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0000382 False paranasal sinus Schneiderian papilloma respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006353 MONDO:0000631 False paranasal sinus Schneiderian papilloma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006353 MONDO:0000631 False paranasal sinus Schneiderian papilloma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006353 MONDO:0000633 False paranasal sinus Schneiderian papilloma sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006354 MONDO:0001223 False parathyroid hyperplasia parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006354 MONDO:0005043 False parathyroid hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006361 MONDO:0006895 False penile fibromatosis penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006362 MONDO:0005065 False peritoneal mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006365 MONDO:0006231 False Peutz-Jeghers polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006366 MONDO:0006224 False Peutz-Jeghers polyp of the stomach gastric hamartomatous polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006366 MONDO:0006365 False Peutz-Jeghers polyp of the stomach Peutz-Jeghers polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006372 MONDO:0002109 False pituicytoma pituitary cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006372 MONDO:0003169 False pituicytoma diencephalic astrocytomas UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006354 MONDO:0001223 False parathyroid hyperplasia parathyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006354 MONDO:0005043 False parathyroid hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006361 MONDO:0006895 False penile fibromatosis penile neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006362 MONDO:0005065 False peritoneal mesothelioma mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006365 MONDO:0006231 False Peutz-Jeghers polyp gastrointestinal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006366 MONDO:0006224 False Peutz-Jeghers polyp of the stomach gastric hamartomatous polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006366 MONDO:0006365 False Peutz-Jeghers polyp of the stomach Peutz-Jeghers polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006372 MONDO:0002109 False pituicytoma pituitary cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006372 MONDO:0003169 False pituicytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006386 MONDO:0003195 False primary peritoneal serous adenocarcinoma peritoneal serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006387 MONDO:0000621 False primary pulmonary diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006388 MONDO:0003430 False prolactin-producing pituitary gland carcinoma prolactin producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006392 MONDO:0021398 False rectal hyperplastic polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006401 MONDO:0044740 False salivary gland adenosquamous carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006402 MONDO:0005341 False salivary gland basal cell adenocarcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006402 MONDO:0044740 False salivary gland basal cell adenocarcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006404 MONDO:0005617 False salivary gland large cell carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006405 MONDO:0024503 False salivary gland small cell carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006406 MONDO:0020663 False sarcomatoid carcinoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006410 MONDO:0005043 False simple endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006392 MONDO:0021398 False rectal hyperplastic polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006401 MONDO:0044740 False salivary gland adenosquamous carcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006402 MONDO:0005341 False salivary gland basal cell adenocarcinoma skin basal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006402 MONDO:0044740 False salivary gland basal cell adenocarcinoma salivary gland squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006404 MONDO:0005617 False salivary gland large cell carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006405 MONDO:0024503 False salivary gland small cell carcinoma digestive system neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006406 MONDO:0020663 False sarcomatoid carcinoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006410 MONDO:0005043 False simple endometrial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006416 MONDO:0000621 False small intestinal Burkitt lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006417 MONDO:0000621 False small intestinal diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006418 MONDO:0000621 False small intestinal enteropathy-associated T-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006418 MONDO:0004805 False small intestinal enteropathy-associated T-cell lymphoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006419 MONDO:0005335 False small intestinal intraepithelial neoplasia colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006427 MONDO:0020664 False spindle cell melanoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006438 MONDO:0002081 False synovial chondromatosis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006419 MONDO:0005335 False small intestinal intraepithelial neoplasia colorectal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006427 MONDO:0020664 False spindle cell melanoma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006438 MONDO:0002081 False synovial chondromatosis musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006442 MONDO:0024876 False tendon sheath fibroma tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006450 MONDO:0020076 False therapy-related myeloid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006450 MONDO:0020076 False therapy-related myeloid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006460 MONDO:0005070 False thyroglossal duct cyst neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006462 MONDO:0000621 False thyroid gland diffuse large B-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006463 MONDO:0024622 False thyroid gland mucoepidermoid carcinoma thyroid gland adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006467 MONDO:0005096 False thyroid gland squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006469 MONDO:0000952 False tibial adamantinoma cancer of long bone of lower limb UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006463 MONDO:0024622 False thyroid gland mucoepidermoid carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006467 MONDO:0005096 False thyroid gland squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006469 MONDO:0000952 False tibial adamantinoma cancer of long bone of lower limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006470 MONDO:0000535 False tonsillar squamous cell carcinoma tonsil squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006478 MONDO:0005617 False undifferentiated pancreatic carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006483 MONDO:0024337 False urothelial dysplasia urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006487 MONDO:0020653 False vaginal adenoid cystic carcinoma vaginal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006491 MONDO:0001938 False vulvar lichen sclerosus vulvar dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006491 MONDO:0007899 False vulvar lichen sclerosus lichen sclerosus et atrophicus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006493 MONDO:0006180 False Warthin tumor digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006493 MONDO:0021460 False Warthin tumor benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006478 MONDO:0005617 False undifferentiated pancreatic carcinoma undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006483 MONDO:0024337 False urothelial dysplasia urothelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006487 MONDO:0020653 False vaginal adenoid cystic carcinoma vaginal adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006491 MONDO:0001938 False vulvar lichen sclerosus vulvar dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006491 MONDO:0007899 False vulvar lichen sclerosus lichen sclerosus et atrophicus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006493 MONDO:0006180 False Warthin tumor digestive system adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006493 MONDO:0021460 False Warthin tumor benign neoplasm of salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006496 MONDO:0002602 False palsy central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006497 MONDO:0044996 False cerebral palsy cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006499 MONDO:0005070 False hamartoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006500 MONDO:0036976 False hemangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006502 MONDO:0001208 False acute respiratory distress syndrome acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006502 MONDO:0002254 False acute respiratory distress syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006505 MONDO:0003996 False basal ganglia cerebrovascular disorder basal ganglia disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006499 MONDO:0005070 False hamartoma neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006500 MONDO:0036976 False hemangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006502 MONDO:0001208 False acute respiratory distress syndrome acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006502 MONDO:0002254 False acute respiratory distress syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006505 MONDO:0003996 False basal ganglia cerebrovascular disorder basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006506 MONDO:0000577 False congenital nonspherocytic hemolytic anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006506 MONDO:0019050 False congenital nonspherocytic hemolytic anemia inherited hemoglobinopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006507 MONDO:0001436 False hereditary hemochromatosis hemosiderosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006506 MONDO:0019050 False congenital nonspherocytic hemolytic anemia inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006507 MONDO:0001436 False hereditary hemochromatosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006507 MONDO:0017763 False hereditary hemochromatosis disorder of iron metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006512 MONDO:0006116 False estrogen-receptor positive breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006513 MONDO:0006116 False estrogen-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006515 MONDO:0020683 False acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006520 MONDO:0002254 False Achenbach syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006525 MONDO:0004980 False allergic contact dermatitis atopic eczema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006526 MONDO:0004980 False allergic urticaria atopic eczema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006520 MONDO:0002254 False Achenbach syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006525 MONDO:0004980 False allergic contact dermatitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006526 MONDO:0004980 False allergic urticaria atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006528 MONDO:0024295 False bacterial exanthem skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006536 MONDO:0020087 False congenital generalized lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006537 MONDO:0001331 False conjunctival pigmentation conjunctival deposit UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006537 MONDO:0001331 False conjunctival pigmentation conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006544 MONDO:0024294 False erythema infectiosum skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006549 MONDO:0060765 False fibroepithelial polyp of the anus fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006549 MONDO:0060766 False fibroepithelial polyp of the anus anal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006550 MONDO:0060765 False fibroepithelial polyp of urethra fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006551 MONDO:0004907 False alopecia mucinosa alopecia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006549 MONDO:0060765 False fibroepithelial polyp of the anus fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006549 MONDO:0060766 False fibroepithelial polyp of the anus anal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006550 MONDO:0060765 False fibroepithelial polyp of urethra fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006551 MONDO:0004907 False alopecia mucinosa alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006551 MONDO:0021653 False alopecia mucinosa cutaneous focal mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006557 MONDO:0019296 False hemangioma of subcutaneous tissue subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006558 MONDO:0024575 False pemphigoid gestationis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006558 MONDO:0024575 False pemphigoid gestationis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006566 MONDO:0045011 False keratosis keratinization disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006567 MONDO:0001240 False kernicterus due to isoimmunization neonatal anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006567 MONDO:0018477 False kernicterus due to isoimmunization bilirubin encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006572 MONDO:0002406 False lichen planus dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006573 MONDO:0005066 False lipodystrophy metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006573 MONDO:0005093 False lipodystrophy skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006576 MONDO:0006858 False Ludwig's angina mouth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006577 MONDO:0006858 False maxillary sinus cholesteatoma mouth disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006567 MONDO:0001240 False kernicterus due to isoimmunization neonatal anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006567 MONDO:0018477 False kernicterus due to isoimmunization bilirubin encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006572 MONDO:0002406 False lichen planus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006573 MONDO:0005066 False lipodystrophy metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006573 MONDO:0005093 False lipodystrophy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006576 MONDO:0006858 False Ludwig's angina mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006577 MONDO:0006858 False maxillary sinus cholesteatoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006577 MONDO:0023369 False maxillary sinus cholesteatoma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006580 MONDO:0002254 False miliaria syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006580 MONDO:0002254 False miliaria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006589 MONDO:0100366 False occupational dermatitis occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006591 MONDO:0003900 False panniculitis connective tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006591 MONDO:0021166 False panniculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006595 MONDO:0005154 False perinatal jaundice due to hepatocellular damage liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006596 MONDO:0006597 False photoallergic dermatitis photosensitivity disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006591 MONDO:0003900 False panniculitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006591 MONDO:0021166 False panniculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006595 MONDO:0005154 False perinatal jaundice due to hepatocellular damage liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006596 MONDO:0006597 False photoallergic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006597 MONDO:0043771 False photosensitivity disease radiodermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006598 MONDO:0006597 False phototoxic dermatitis photosensitivity disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006601 MONDO:0006547 False pityriasis rosea exanthem UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006598 MONDO:0006597 False phototoxic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006601 MONDO:0006547 False pityriasis rosea exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006602 MONDO:0100118 False porokeratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006606 MONDO:0002523 False scleredema adultorum cutaneous mucinosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006607 MONDO:0002917 False sebaceous gland disorder disorder of pilosebaceous unit UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006613 MONDO:0001308 False stromal corneal pigmentation corneal deposit UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006620 MONDO:0021396 False vulva fibroepithelial polyp polyp of vulva UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006620 MONDO:0060765 False vulva fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006622 MONDO:0002656 False vulvar seborrheic keratosis skin carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006622 MONDO:0005215 False vulvar seborrheic keratosis vulvar carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006606 MONDO:0002523 False scleredema adultorum cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006607 MONDO:0002917 False sebaceous gland disorder disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006613 MONDO:0001308 False stromal corneal pigmentation corneal deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006620 MONDO:0021396 False vulva fibroepithelial polyp polyp of vulva UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006620 MONDO:0060765 False vulva fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006622 MONDO:0002656 False vulvar seborrheic keratosis skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006622 MONDO:0005215 False vulvar seborrheic keratosis vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006625 MONDO:0005087 False altitude sickness respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006629 MONDO:0005178 False osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006629 MONDO:0005178 False osteoarthritis, hip osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006630 MONDO:0005178 False osteoarthritis, spine osteoarthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006633 MONDO:0006032 False acalculous cholecystitis cystitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006633 MONDO:0006032 False acalculous cholecystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006635 MONDO:0006878 False Acinetobacter infectious disease Moraxellaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006636 MONDO:0005113 False Actinobacillus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006638 MONDO:0020683 False acute retinal necrosis syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006639 MONDO:0002095 False adrenal cortex carcinoma vascular cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006639 MONDO:0002814 False adrenal cortex carcinoma adrenal carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006639 MONDO:0005086 False adrenal cortex carcinoma renal cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006640 MONDO:0002816 False adrenal gland hyperfunction adrenal cortex disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006639 MONDO:0002095 False adrenal cortex carcinoma vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006639 MONDO:0002814 False adrenal cortex carcinoma adrenal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006639 MONDO:0005086 False adrenal cortex carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006640 MONDO:0002816 False adrenal gland hyperfunction adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006642 MONDO:0002326 False alcohol withdrawal delirium alcohol-induced mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006642 MONDO:0005433 False alcohol withdrawal delirium alcohol withdrawal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006642 MONDO:0021698 False alcohol withdrawal delirium alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006643 MONDO:0021699 False alcoholic cardiomyopathy alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006644 MONDO:0043693 False alcoholic liver cirrhosis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006645 MONDO:0001824 False alcoholic polyneuropathy polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006644 MONDO:0043693 False alcoholic liver cirrhosis alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006645 MONDO:0001824 False alcoholic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006648 MONDO:0020120 False anterior compartment of tibia syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006656 MONDO:0018882 False aortitis vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006658 MONDO:0021661 False arteriolosclerosis coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006656 MONDO:0018882 False aortitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006658 MONDO:0021661 False arteriolosclerosis coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006659 MONDO:0021661 False arteriosclerosis obliterans coronary atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006662 MONDO:0021108 False aseptic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006664 MONDO:0003847 False atrial septal defect hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006665 MONDO:0005001 False chronic atrophic gastritis chronic gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006666 MONDO:0003240 False atrophy of thyroid thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006668 MONDO:0043885 False bacterial conjunctivitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006669 MONDO:0000565 False bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006669 MONDO:0005113 False bacterial endocarditis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006662 MONDO:0021108 False aseptic meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006664 MONDO:0003847 False atrial septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006665 MONDO:0005001 False chronic atrophic gastritis chronic gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006666 MONDO:0003240 False atrophy of thyroid thyroid gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006668 MONDO:0043885 False bacterial conjunctivitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006669 MONDO:0000565 False bacterial endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006669 MONDO:0005113 False bacterial endocarditis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006671 MONDO:0006705 False Bacteroides infectious disease Bacteroidaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006671 MONDO:0024389 False Bacteroides infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006672 MONDO:0021166 False balanitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006673 MONDO:0003641 False pituitary gland basophil adenoma central nervous system hematopoietic neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006676 MONDO:0042976 False beriberi vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006672 MONDO:0021166 False balanitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006673 MONDO:0003641 False pituitary gland basophil adenoma central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006676 MONDO:0042976 False beriberi vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006681 MONDO:0021839 False Borrelia infectious disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006683 MONDO:0024432 False brachial plexus neuropathy nerve plexus disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006683 MONDO:0024432 False brachial plexus neuropathy nerve plexus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006685 MONDO:0005299 False brain hypoxia - ischemia brain ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006687 MONDO:0002254 False burning mouth syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006687 MONDO:0002254 False burning mouth syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006699 MONDO:0005346 False choledocholithiasis gallstones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006700 MONDO:0002095 False choroid cancer vascular cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006700 MONDO:0043218 False choroid cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006702 MONDO:0003334 False chronic inflammatory demyelinating polyradiculoneuropathy demyelinating polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006702 MONDO:0006915 False chronic inflammatory demyelinating polyradiculoneuropathy polyradiculoneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006700 MONDO:0002095 False choroid cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006700 MONDO:0043218 False choroid cancer neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006702 MONDO:0003334 False chronic inflammatory demyelinating polyradiculoneuropathy demyelinating polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006702 MONDO:0006915 False chronic inflammatory demyelinating polyradiculoneuropathy polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006704 MONDO:0007179 False CNS demyelinating autoimmune disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006705 MONDO:0021678 False Bacteroidaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006706 MONDO:0005113 False Bifidobacteriales infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006708 MONDO:0021678 False Desulfovibrionaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006709 MONDO:0002886 False common bile duct neoplasm common bile duct disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006709 MONDO:0002886 False common bile duct neoplasm common bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006709 MONDO:0021385 False common bile duct neoplasm extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006714 MONDO:0005010 False coronary aneurysm coronary artery disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006714 MONDO:0005010 False coronary aneurysm coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006718 MONDO:0005976 False cutaneous syphilis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006718 MONDO:0024295 False cutaneous syphilis skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006720 MONDO:0005626 False cystic, mucinous, and serous neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006732 MONDO:0005071 False drug-induced dyskinesia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006733 MONDO:0002254 False dry eye syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006733 MONDO:0004768 False dry eye syndrome keratoconjunctivitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006735 MONDO:0007186 False duodenogastric reflux gastroesophageal reflux disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006733 MONDO:0002254 False dry eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006733 MONDO:0004768 False dry eye syndrome keratoconjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006735 MONDO:0007186 False duodenogastric reflux gastroesophageal reflux disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006736 MONDO:0005039 False dysplasia of cervix reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006737 MONDO:0024575 False dystocia pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006740 MONDO:0002254 False empty sella syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006742 MONDO:0005397 False endemic goiter goiter UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006740 MONDO:0002254 False empty sella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006742 MONDO:0005397 False endemic goiter goiter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006743 MONDO:0005151 False endocrine tuberculosis endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006743 MONDO:0018076 False endocrine tuberculosis tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006747 MONDO:0024913 False enterotoxemia cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21439,91 +21474,91 @@ MONDO:0006748 MONDO:0005027 False epilepsia partialis continua epilepsy UNSUPPOR MONDO:0006751 MONDO:0021679 False Erysipelothrix infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006752 MONDO:0006751 False Erysipelothrix rhusiopathiae infectious disease Erysipelothrix infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006753 MONDO:0006670 False Escherichia coli meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006755 MONDO:0002254 False euthyroid sick syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006755 MONDO:0002254 False euthyroid sick syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006757 MONDO:0006322 False extrahepatic cholestasis non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006758 MONDO:0005039 False female genital tuberculosis reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006759 MONDO:0024334 False femoral neuropathy peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006761 MONDO:0000473 False fibromuscular dysplasia arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006761 MONDO:0003847 False fibromuscular dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006761 MONDO:0000473 False fibromuscular dysplasia arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006761 MONDO:0003847 False fibromuscular dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006762 MONDO:0024913 False freemartinism cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006762 MONDO:0700105 False freemartinism difference of sexual differentiation, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006763 MONDO:0006816 False frozen shoulder arthropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006763 MONDO:0006816 False frozen shoulder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006765 MONDO:0006925 False Fusobacterium infectious disease Fusobacteriaceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006765 MONDO:0024389 False Fusobacterium infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006767 MONDO:0021658 False gastric antral vascular ectasia vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006767 MONDO:0021658 False gastric antral vascular ectasia vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006771 MONDO:0021166 False glossitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006773 MONDO:0006054 False gonadal tissue neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006774 MONDO:0005039 False habitual spontaneous abortion reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006780 MONDO:0024913 False heartwater disease cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006780 MONDO:0700205 False heartwater disease ehrlichiosis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006781 MONDO:0021678 False Helicobacter pylori infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006784 MONDO:0001531 False hemorrhagic disease of newborn blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006784 MONDO:0005137 False hemorrhagic disease of newborn nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006784 MONDO:0001531 False hemorrhagic disease of newborn blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006784 MONDO:0005137 False hemorrhagic disease of newborn nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006789 MONDO:0005570 False hyperamylasemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006791 MONDO:0024575 False hyperemesis gravidarum pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006792 MONDO:0005093 False hyperglobulinemic purpura skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006792 MONDO:0005093 False hyperglobulinemic purpura skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006793 MONDO:0024468 False hyperpituitarism anterior pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006794 MONDO:0018882 False hypersensitivity vasculitis vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006802 MONDO:0045072 False inappropriate ADH syndrome ectopic hormone secretion syndrome associated with neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006810 MONDO:0005044 False intracranial hypertension hypertensive disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006794 MONDO:0018882 False hypersensitivity vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006802 MONDO:0045072 False inappropriate ADH syndrome ectopic hormone secretion syndrome associated with neoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006810 MONDO:0005044 False intracranial hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006810 MONDO:0043218 False intracranial hypertension neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006814 MONDO:0020283 False iritis uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006815 MONDO:0002564 False jejunal cancer jejunal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006814 MONDO:0020283 False iritis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006815 MONDO:0002564 False jejunal cancer jejunal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006816 MONDO:0005172 False arthropathy skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0017975 False Klinefelter syndrome sex chromosome disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0700027 False Klinefelter syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006823 MONDO:0700065 False Klinefelter syndrome trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006824 MONDO:0004993 False Krebs 2 carcinoma carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006825 MONDO:0005395 False kuru movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006827 MONDO:0002254 False lateral medullary syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006828 MONDO:0005586 False nasal cavity and paranasal sinus lethal midline granuloma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006825 MONDO:0005395 False kuru movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006827 MONDO:0002254 False lateral medullary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006828 MONDO:0005586 False nasal cavity and paranasal sinus lethal midline granuloma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006829 MONDO:0004959 False leukemoid reaction plasma cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006830 MONDO:0043243 False leukoplakia of penis leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006835 MONDO:0002462 False lipoid nephrosis glomerulonephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006836 MONDO:0005828 False Listeria meningitis listeriosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006837 MONDO:0002135 False low tension glaucoma optic nerve disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006830 MONDO:0043243 False leukoplakia of penis leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006835 MONDO:0002462 False lipoid nephrosis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006836 MONDO:0005828 False Listeria meningitis listeriosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006837 MONDO:0002135 False low tension glaucoma optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006838 MONDO:0000368 False lupus vulgaris extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006840 MONDO:0005833 False lymphangiectasis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006840 MONDO:0021658 False lymphangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006844 MONDO:0006873 False magnesium deficiency nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006840 MONDO:0005833 False lymphangiectasis lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006840 MONDO:0021658 False lymphangiectasis vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006844 MONDO:0006873 False magnesium deficiency nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006845 MONDO:0003150 False male genital tuberculosis male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006845 MONDO:0006002 False male genital tuberculosis urogenital tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006849 MONDO:0021166 False mastitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006850 MONDO:0005841 False maxillary sinus neoplasm maxillary neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006851 MONDO:0024263 False meconium aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006857 MONDO:0006693 False middle cerebral artery infarction cerebral arterial disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006849 MONDO:0021166 False mastitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006850 MONDO:0005841 False maxillary sinus neoplasm maxillary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006851 MONDO:0024263 False meconium aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006857 MONDO:0006693 False middle cerebral artery infarction cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006858 MONDO:0700096 False mouth disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006861 MONDO:0005089 False myeloid sarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006861 MONDO:0005089 False myeloid sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006874 MONDO:0006322 False obstructive jaundice non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006875 MONDO:0005044 False ocular hypertension hypertensive disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006876 MONDO:0000368 False ocular tuberculosis extrapulmonary tuberculosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006875 MONDO:0005044 False ocular hypertension hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006876 MONDO:0000368 False ocular tuberculosis extrapulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006876 MONDO:0043885 False ocular tuberculosis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006877 MONDO:0021166 False oophoritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006878 MONDO:0021678 False Moraxellaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006879 MONDO:0002708 False optic papillitis retinitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006881 MONDO:0005230 False orbital cellulitis cellulitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006882 MONDO:0021166 False orchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006884 MONDO:0001718 False panophthalmitis scleritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006886 MONDO:0005034 False thyroid gland papillary and follicular carcinoma thyroid gland follicular carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006887 MONDO:0002654 False parametritis uterine disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006879 MONDO:0002708 False optic papillitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006881 MONDO:0005230 False orbital cellulitis cellulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006882 MONDO:0021166 False orchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006884 MONDO:0001718 False panophthalmitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006886 MONDO:0005034 False thyroid gland papillary and follicular carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006887 MONDO:0002654 False parametritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0043786 False parametritis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006887 MONDO:0045043 False parametritis disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006888 MONDO:0001824 False paraneoplastic polyneuropathy polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006888 MONDO:0001824 False paraneoplastic polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006888 MONDO:0018215 False paraneoplastic polyneuropathy paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006893 MONDO:0005229 False Pasteurella hemorrhagic septicemia bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006893 MONDO:0040998 False Pasteurella hemorrhagic septicemia Pasteurella multocida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006896 MONDO:0004247 False peptic esophagitis peptic ulcer disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006896 MONDO:0004247 False peptic esophagitis peptic ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006896 MONDO:0044782 False peptic esophagitis esophageal ulcer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006898 MONDO:0005578 False periarthritis arthritic joint disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006899 MONDO:0005076 False pericoronitis periodontitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006898 MONDO:0005578 False periarthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006899 MONDO:0005076 False pericoronitis periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006900 MONDO:0021166 False perinephritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006909 MONDO:0005495 False pituitary dwarfism adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006913 MONDO:0001316 False pneumococcal meningitis streptococcal meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006913 MONDO:0001316 False pneumococcal meningitis streptococcal meningitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006913 MONDO:0005114 False pneumococcal meningitis pneumococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006915 MONDO:0001824 False polyradiculoneuropathy polyneuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006915 MONDO:0002562 False polyradiculoneuropathy demyelinating disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006916 MONDO:0006026 False postcholecystectomy syndrome urinary bladder disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006917 MONDO:0006693 False posterior cerebral artery infarction cerebral arterial disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006915 MONDO:0001824 False polyradiculoneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006915 MONDO:0002562 False polyradiculoneuropathy demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006916 MONDO:0006026 False postcholecystectomy syndrome urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006917 MONDO:0006693 False posterior cerebral artery infarction cerebral arterial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006919 MONDO:0006873 False potassium deficiency nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006921 MONDO:0021679 False Actinomycetales infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006921 MONDO:0024389 False Actinomycetales infectious disease anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21532,107 +21567,107 @@ MONDO:0006922 MONDO:0021678 False Anaplasmataceae infectious disease gram-negati MONDO:0006923 MONDO:0021679 False Bacillaceae infectious disease gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006924 MONDO:0021678 False Bartonellaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006925 MONDO:0021678 False Fusobacteriaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006926 MONDO:0005113 False haemophilus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006926 MONDO:0005113 False haemophilus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006927 MONDO:0006956 False Rickettsiaceae infectious disease Rickettsiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006927 MONDO:0021678 False Rickettsiaceae infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006929 MONDO:0005113 False Proteus infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006930 MONDO:0003569 False pseudobulbar palsy cranial nerve neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006932 MONDO:0001208 False pulmonary edema acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006937 MONDO:0005113 False pulpitis bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006930 MONDO:0003569 False pseudobulbar palsy cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006932 MONDO:0001208 False pulmonary edema acute respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006937 MONDO:0005113 False pulpitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006937 MONDO:0021166 False pulpitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006938 MONDO:0001166 False pyelitis nephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006939 MONDO:0001786 False pyelonephritis uterine inflammatory disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006939 MONDO:0005247 False pyelonephritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006940 MONDO:0003607 False radial nerve lesion neuritis of upper limb UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006940 MONDO:0006682 False radial nerve lesion brachial plexus neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006938 MONDO:0001166 False pyelitis nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006939 MONDO:0001786 False pyelonephritis uterine inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006939 MONDO:0005247 False pyelonephritis bacterial urinary tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006940 MONDO:0003607 False radial nerve lesion neuritis of upper limb UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006940 MONDO:0006682 False radial nerve lesion brachial plexus neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006940 MONDO:0024334 False radial nerve lesion peripheral nerve lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006941 MONDO:0005113 False rat-bite fever bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006941 MONDO:0005113 False rat-bite fever bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006941 MONDO:0100120 False rat-bite fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006944 MONDO:0005240 False renal aminoaciduria kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006946 MONDO:0001530 False renal osteodystrophy secondary hyperparathyroidism of renal origin UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006946 MONDO:0005520 False renal osteodystrophy rickets UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006950 MONDO:0002708 False retinal vasculitis retinitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006955 MONDO:0021166 False rheumatic heart disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006956 MONDO:0005113 False Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006957 MONDO:0002233 False root caries enamel caries UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006963 MONDO:0006607 False sebaceous gland neoplasm sebaceous gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006969 MONDO:0002052 False sialadenitis lymphadenitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006946 MONDO:0005520 False renal osteodystrophy rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006950 MONDO:0002708 False retinal vasculitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006955 MONDO:0021166 False rheumatic heart disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006956 MONDO:0005113 False Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006957 MONDO:0002233 False root caries enamel caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006963 MONDO:0006607 False sebaceous gland neoplasm sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006969 MONDO:0002052 False sialadenitis lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006971 MONDO:0005401 False sigmoid neoplasm colonic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006976 MONDO:0005369 False somatostatinoma carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006976 MONDO:0005369 False somatostatinoma carcinoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006978 MONDO:0020674 False splenic infarction vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006979 MONDO:0700103 False steatitis nutritional deficiency disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006981 MONDO:0020683 False subacute bacterial endocarditis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006982 MONDO:0001949 False subacute thyroiditis acute thyroiditis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006983 MONDO:0011057 False subclavian steal syndrome cerebrovascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006983 MONDO:0011057 False subclavian steal syndrome cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006984 MONDO:0005242 False subdural empyema empyema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006984 MONDO:0024619 False subdural empyema central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006988 MONDO:0044348 False sulfhemoglobinemia hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006992 MONDO:0005976 False syphilitic aortitis syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006994 MONDO:0002254 False tarsal tunnel syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006995 MONDO:0002254 False tethered spinal cord syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006996 MONDO:0004425 False thyroid crisis hyperthyroidism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0006994 MONDO:0002254 False tarsal tunnel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006995 MONDO:0002254 False tethered spinal cord syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006996 MONDO:0004425 False thyroid crisis hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006998 MONDO:0004685 False tonsil cancer Waldeyer's ring cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006999 MONDO:0005172 False tooth disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007000 MONDO:0005323 False Treponema infectious disease bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007000 MONDO:0021678 False Treponema infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007000 MONDO:0021839 False Treponema infectious disease spirochaetales infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007001 MONDO:0005561 False tricuspid valve prolapse aortic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007001 MONDO:0005561 False tricuspid valve prolapse aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007001 MONDO:0020289 False tricuspid valve prolapse congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007004 MONDO:0007179 False type III hypersensitivity disease autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007004 MONDO:0007179 False type III hypersensitivity disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007005 MONDO:0005265 False ulcerative proctosigmoiditis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007006 MONDO:0006683 False ulnar neuropathy brachial plexus neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007006 MONDO:0006683 False ulnar neuropathy brachial plexus neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007007 MONDO:0005297 False Ureaplasma urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007009 MONDO:0006026 False ureterolithiasis urinary bladder disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007009 MONDO:0006026 False ureterolithiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007014 MONDO:0005113 False vibrio infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007015 MONDO:0006662 False viral meningitis aseptic meningitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007016 MONDO:0024298 False vitamin A deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007015 MONDO:0006662 False viral meningitis aseptic meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007016 MONDO:0024298 False vitamin A deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007017 MONDO:0020246 False vitreous detachment inherited vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007018 MONDO:0021166 False vulvitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007019 MONDO:0002234 False vulvovaginitis vaginitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007019 MONDO:0007018 False vulvovaginitis vulvitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007019 MONDO:0002234 False vulvovaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007019 MONDO:0007018 False vulvovaginitis vulvitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007020 MONDO:0021698 False Wernicke encephalopathy alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007023 MONDO:0005113 False Yersinia infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007023 MONDO:0005113 False Yersinia infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007024 MONDO:0007023 False Yersinia pseudotuberculosis infectious disease Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007025 MONDO:0005976 False chancre syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007027 MONDO:0002251 False metabolic dysfunction-associated steatohepatitis hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007027 MONDO:0002251 False metabolic dysfunction-associated steatohepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007028 MONDO:0020120 False rotator cuff syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007031 MONDO:0003847 False familial abdominal aortic aneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007031 MONDO:0005350 False familial abdominal aortic aneurysm abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007032 MONDO:0100191 False prune belly syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007034 MONDO:0003847 False Adams-Oliver syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007035 MONDO:0002406 False acanthosis nigricans dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007036 MONDO:0003847 False Achard syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007034 MONDO:0003847 False Adams-Oliver syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007035 MONDO:0002406 False acanthosis nigricans dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007036 MONDO:0003847 False Achard syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007038 MONDO:0003847 False Achoo syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007039 MONDO:0021061 False neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007039 MONDO:0021061 False neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007040 MONDO:0000078 False Sakati-Nyhan syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007041 MONDO:0019796 False Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007041 MONDO:0019796 False Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007043 MONDO:0000078 False Pfeiffer syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007046 MONDO:0100118 False hereditary papulotranslucent acrokeratoderma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007048 MONDO:0100118 False acrokeratosis verruciformis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007049 MONDO:0003847 False acroleukopathy, symmetric hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007050 MONDO:0003847 False acromegaloid changes, cutis verticis gyrata, and corneal leukoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007051 MONDO:0015160 False acromegaloid facial appearance syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007052 MONDO:0006238 False growth hormone secreting pituitary adenoma 1 growth hormone-producing pituitary gland adenoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007052 MONDO:0006238 False growth hormone secreting pituitary adenoma 1 growth hormone-producing pituitary gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007054 MONDO:0003847 False acromial dimples hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007056 MONDO:0019707 False acroosteolysis primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0003157 False Acroosteolysis dominant type disappearing bone disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0005554 False Acroosteolysis dominant type rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0007056 False Acroosteolysis dominant type acroosteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007057 MONDO:0023603 False Acroosteolysis dominant type hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007057 MONDO:0003157 False Acroosteolysis dominant type disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007057 MONDO:0005554 False Acroosteolysis dominant type rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007057 MONDO:0007056 False Acroosteolysis dominant type acroosteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007057 MONDO:0023603 False Acroosteolysis dominant type hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007058 MONDO:0800066 False Acropectorovertebral dysplasia polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007066 MONDO:0003847 False adenosine triphosphatase deficiency, anemia due to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007067 MONDO:0016789 False pyruvate kinase hyperactivity pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007070 MONDO:0000652 False adiposis dolorosa integumentary system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007071 MONDO:0015129 False adrenocortical hypofunction, chronic primary congenital chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007070 MONDO:0000652 False adiposis dolorosa integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007071 MONDO:0015129 False adrenocortical hypofunction, chronic primary congenital chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007073 MONDO:0015160 False Hypoglossia-hypodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007073 MONDO:0019713 False Hypoglossia-hypodactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007074 MONDO:0005093 False ainhum skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007073 MONDO:0019713 False Hypoglossia-hypodactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007074 MONDO:0005093 False ainhum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007074 MONDO:0005381 False ainhum bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007075 MONDO:0019627 False alacrima, congenital, autosomal dominant isolated congenital alacrima UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007077 MONDO:0005328 False Tietz syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007077 MONDO:0005328 False Tietz syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007077 MONDO:0100118 False Tietz syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007078 MONDO:0800466 False pseudohypoparathyroidism type 1A disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007079 MONDO:0005303 False alcohol dependence drug dependence UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007079 MONDO:0005303 False alcohol dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007079 MONDO:0021698 False alcohol dependence alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007082 MONDO:0005340 False alopecia areata 1 alopecia areata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007085 MONDO:0002051 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21647,17 +21682,17 @@ MONDO:0007091 MONDO:0003847 False amelia and terminal transverse hemimelia hered MONDO:0007092 MONDO:0015047 False amelogenesis imperfecta type 1B amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007094 MONDO:0015047 False amelogenesis imperfecta type 1A amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007096 MONDO:0003847 False amenorrhea-galactorrhea syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007097 MONDO:0002254 False Finnish type amyloidosis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007101 MONDO:0018634 False familial primary localized cutaneous amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007097 MONDO:0002254 False Finnish type amyloidosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007101 MONDO:0018634 False familial primary localized cutaneous amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007101 MONDO:0100118 False familial primary localized cutaneous amyloidosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007102 MONDO:0003847 False amyotrophic dystonic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007104 MONDO:0024237 False amyotrophic lateral sclerosis-parkinsonism-dementia complex inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007105 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007104 MONDO:0024237 False amyotrophic lateral sclerosis-parkinsonism-dementia complex inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007105 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007106 MONDO:0003847 False anal sphincter dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007107 MONDO:0003847 False anal sphincter myopathy, internal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007109 MONDO:0000577 False congenital dyserythropoietic anemia type 3 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007113 MONDO:0003847 False Angelman syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007113 MONDO:0005071 False Angelman syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007113 MONDO:0003847 False Angelman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007113 MONDO:0005071 False Angelman syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007115 MONDO:0019803 False angioma serpiginosum, autosomal dominant angioma serpiginosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007116 MONDO:0024296 False hereditary neurocutaneous angioma vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007118 MONDO:0100118 False isolated anhidrosis with normal sweat glands hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21668,9 +21703,9 @@ MONDO:0007120 MONDO:0003847 False aniridia-absent patella syndrome hereditary di MONDO:0007121 MONDO:0003847 False aniridia, microcornea, and spontaneously Reabsorbed cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007122 MONDO:0003847 False anisocoria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007123 MONDO:0002254 False ankyloblepharon filiforme adnatum-cleft palate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007125 MONDO:0003847 False ankyloglossia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007127 MONDO:0002185 False diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007127 MONDO:0003847 False diffuse idiopathic skeletal hyperostosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007125 MONDO:0003847 False ankyloglossia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007127 MONDO:0002185 False diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007127 MONDO:0003847 False diffuse idiopathic skeletal hyperostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0700007 False diffuse idiopathic skeletal hyperostosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007128 MONDO:0003847 False annular erythema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007132 MONDO:0003847 False anonychia-ectrodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21681,13 +21716,13 @@ MONDO:0007136 MONDO:0019938 False hereditary anorectal anomalies anorectal malfo MONDO:0007137 MONDO:0010528 False isolated congenital anosmia anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007144 MONDO:0003847 False aortic arch interruption, facial palsy, and retinal coloboma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007145 MONDO:0100118 False aplasia cutis congenita hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007147 MONDO:0002254 False obstructive sleep apnea syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007147 MONDO:0002254 False obstructive sleep apnea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007148 MONDO:0020573 False appendicitis, proneness to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007150 MONDO:0003847 False arcus senilis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007150 MONDO:0003847 False arcus senilis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007151 MONDO:0003847 False arms, malformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007153 MONDO:0003847 False arteries, anomalies of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007154 MONDO:0001256 False arteriovenous malformations of the brain arteriovenous hemangioma/malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007154 MONDO:0003847 False arteriovenous malformations of the brain hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007154 MONDO:0001256 False arteriovenous malformations of the brain arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007154 MONDO:0003847 False arteriovenous malformations of the brain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007155 MONDO:0003847 False arteritis, familial granulomatous, with juvenile polyarthritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007156 MONDO:0003847 False arthritis, sacroiliac hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007162 MONDO:0003847 False asymmetric short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21697,7 +21732,7 @@ MONDO:0007169 MONDO:0020573 False atherosclerosis susceptibility inherited disea MONDO:0007170 MONDO:0024623 False atresia of external auditory canal and conductive deafness otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007171 MONDO:0015281 False atrial standstill 1 atrial standstill UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007175 MONDO:0003847 False PR interval, variation in hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007176 MONDO:0019118 False helicoid peripapillary chorioretinal degeneration inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007176 MONDO:0019118 False helicoid peripapillary chorioretinal degeneration inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007177 MONDO:0002081 False auriculoosteodysplasia musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007178 MONDO:0003847 False aurocephalosyndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007180 MONDO:0003847 False Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21705,36 +21740,36 @@ MONDO:0007181 MONDO:0042973 False axial osteomalacia familial osteosclerosis UNS MONDO:0007183 MONDO:0003847 False azotemia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007184 MONDO:0005339 False alopecia, androgenetic, 1 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007185 MONDO:0001411 False Banki syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007186 MONDO:0003749 False gastroesophageal reflux disease esophageal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007186 MONDO:0003847 False gastroesophageal reflux disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007186 MONDO:0004298 False gastroesophageal reflux disease stomach disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007187 MONDO:0042983 False nevoid basal cell carcinoma syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007186 MONDO:0003749 False gastroesophageal reflux disease esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007186 MONDO:0003847 False gastroesophageal reflux disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007186 MONDO:0004298 False gastroesophageal reflux disease stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007187 MONDO:0042983 False nevoid basal cell carcinoma syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007188 MONDO:0005172 False primary basilar invagination skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007188 MONDO:0021147 False primary basilar invagination disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007190 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007191 MONDO:0002254 False Behcet disease syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007191 MONDO:0019293 False Behcet disease skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007191 MONDO:0002254 False Behcet disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007191 MONDO:0019293 False Behcet disease skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007192 MONDO:0003847 False beta-amino acids, renal transport of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007194 MONDO:0003847 False familial bicuspid aortic valve hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007194 MONDO:0003847 False familial bicuspid aortic valve hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007194 MONDO:0021147 False familial bicuspid aortic valve disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007195 MONDO:0000110 False bifid nose, autosomal dominant bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007197 MONDO:0003847 False bladder diverticulum hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007197 MONDO:0003847 False bladder diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007199 MONDO:0003847 False blepharochalasis, superior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007201 MONDO:0000426 False blepharophimosis, ptosis, and epicanthus inversus syndrome autosomal dominant disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007201 MONDO:0019852 False blepharophimosis, ptosis, and epicanthus inversus syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007201 MONDO:0000426 False blepharophimosis, ptosis, and epicanthus inversus syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007201 MONDO:0019852 False blepharophimosis, ptosis, and epicanthus inversus syndrome inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007202 MONDO:0001176 False blepharoptosis-myopia-ectopia lentis syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007203 MONDO:0100118 False blue rubber bleb nevus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007204 MONDO:0800064 False Cole-Carpenter syndrome 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007205 MONDO:0023603 False diaphyseal medullary stenosis-bone malignancy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007205 MONDO:0023603 False diaphyseal medullary stenosis-bone malignancy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007205 MONDO:0800159 False diaphyseal medullary stenosis-bone malignancy syndrome disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007206 MONDO:0003847 False bone pain, periodic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007210 MONDO:0003847 False Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007211 MONDO:0021004 False brachydactyly-arterial hypertension syndrome brachydactyly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007216 MONDO:0002254 False brachydactyly type A2 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007211 MONDO:0021004 False brachydactyly-arterial hypertension syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007216 MONDO:0002254 False brachydactyly type A2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007223 MONDO:0019677 False brachydactyly type E1 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007224 MONDO:0019677 False brachydactyly, type E, with atrial septal defect, type 2 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007225 MONDO:0002254 False fibular aplasia-ectrodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007225 MONDO:0018230 False fibular aplasia-ectrodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007225 MONDO:0018230 False fibular aplasia-ectrodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007226 MONDO:0002254 False brachydactyly-nystagmus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007227 MONDO:0002254 False Sillence syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007228 MONDO:0003847 False brachymesomelia-renal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21745,33 +21780,33 @@ MONDO:0007230 MONDO:0005172 False Brachymorphism-onychodysplasia-dysphalangism s MONDO:0007230 MONDO:0015160 False Brachymorphism-onychodysplasia-dysphalangism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007231 MONDO:0002254 False brachytelephalangy-dysmorphism-Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007232 MONDO:0000426 False autosomal dominant brachyolmia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007233 MONDO:0018751 False second branchial cleft anomaly hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007233 MONDO:0018751 False second branchial cleft anomaly hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007234 MONDO:0003847 False branchial myoclonus with spastic paraparesis and cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007237 MONDO:0002657 False familial juvenile hypertrophy of the breast breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007237 MONDO:0003847 False familial juvenile hypertrophy of the breast hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007238 MONDO:0015855 False amastia isolated congenital breast hypoplasia/aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007240 MONDO:0005449 False progressive familial heart block, type 1A conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007240 MONDO:0007263 False progressive familial heart block, type 1A cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007240 MONDO:0007263 False progressive familial heart block, type 1A cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007241 MONDO:0003847 False bundle branch block, familial isolated complete right hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007242 MONDO:0003847 False butyrylesterase 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007243 MONDO:0003847 False Burkitt lymphoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007244 MONDO:0002185 False Caffey disease hyperostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007243 MONDO:0003847 False Burkitt lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007244 MONDO:0002185 False Caffey disease hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007246 MONDO:0003847 False calcific aortic disease with immunologic abnormalities, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007247 MONDO:0008947 False basal ganglia calcification, idiopathic, childhood-onset bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007247 MONDO:0018866 False basal ganglia calcification, idiopathic, childhood-onset Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007247 MONDO:0008947 False basal ganglia calcification, idiopathic, childhood-onset bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007247 MONDO:0018866 False basal ganglia calcification, idiopathic, childhood-onset Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007247 MONDO:0700007 False basal ganglia calcification, idiopathic, childhood-onset idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007249 MONDO:0021004 False camptobrachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007250 MONDO:0021147 False camptodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007251 MONDO:0005151 False campomelic dysplasia endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007251 MONDO:0005151 False campomelic dysplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007251 MONDO:0015160 False campomelic dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007253 MONDO:0003847 False cancer, familial, with in vitro Radioresistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007258 MONDO:0003847 False canine teeth, absence of upper permanent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007259 MONDO:0100237 False craniofaciofrontodigital syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007259 MONDO:0100237 False craniofaciofrontodigital syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007260 MONDO:0003847 False Car factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007261 MONDO:0003847 False Carabelli anomaly of maxillary molar teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007263 MONDO:0005267 False cardiac rhythm disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007269 MONDO:0002254 False dilated cardiomyopathy 1A syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007271 MONDO:0021154 False familial cutaneous collagenoma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007263 MONDO:0005267 False cardiac rhythm disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007269 MONDO:0002254 False dilated cardiomyopathy 1A syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007271 MONDO:0021154 False familial cutaneous collagenoma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0002714 False paragangliomas 4 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0002817 False paragangliomas 4 adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007273 MONDO:0006295 False paragangliomas 4 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21779,99 +21814,99 @@ MONDO:0007273 MONDO:0017366 False paragangliomas 4 hereditary pheochromocytoma-p MONDO:0007273 MONDO:0021089 False paragangliomas 4 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007274 MONDO:0003847 False carpal displacement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007275 MONDO:0020127 False carpal tunnel syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007276 MONDO:0002254 False cat-eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007276 MONDO:0003847 False cat-eye syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007276 MONDO:0002254 False cat-eye syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007276 MONDO:0003847 False cat-eye syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007277 MONDO:0000426 False cataract-aberrant oral frenula-growth delay syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007278 MONDO:0011060 False cataract 32 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007278 MONDO:0011060 False cataract 32 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007279 MONDO:0020374 False cataract 7 cerulean cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007280 MONDO:0011060 False cataract 8 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007283 MONDO:0011060 False cataract 42 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007284 MONDO:0011060 False cataract 20 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007280 MONDO:0011060 False cataract 8 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007283 MONDO:0011060 False cataract 42 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007284 MONDO:0011060 False cataract 20 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007286 MONDO:0020377 False cataract 30 early-onset partial cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007287 MONDO:0020376 False cataract 41 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007288 MONDO:0011060 False cataract 6 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007289 MONDO:0011060 False cataract 13 with adult I phenotype early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007290 MONDO:0011060 False cataract 5 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007294 MONDO:0018943 False central core myopathy myofibrillar myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007288 MONDO:0011060 False cataract 6 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007289 MONDO:0011060 False cataract 13 with adult I phenotype early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007290 MONDO:0011060 False cataract 5 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007294 MONDO:0018943 False central core myopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007294 MONDO:0100150 False central core myopathy RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007294 MONDO:0100196 False central core myopathy TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007300 MONDO:0002216 False cerebral sarcoma brain sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007301 MONDO:0015160 False cerebrocostomandibular syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007301 MONDO:0018230 False cerebrocostomandibular syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007301 MONDO:0018230 False cerebrocostomandibular syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007302 MONDO:0003847 False cervical hypertrichosis with underlying kyphoscoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007303 MONDO:0003847 False cervical rib disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007303 MONDO:0003847 False cervical rib disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007303 MONDO:0005381 False cervical rib disease bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007304 MONDO:0003847 False cervical vertebral Bridge hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007305 MONDO:0003847 False cervical vertebral dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007307 MONDO:0011909 False Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007310 MONDO:0015626 False Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007312 MONDO:0015626 False Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007307 MONDO:0011909 False Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007310 MONDO:0015626 False Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007312 MONDO:0015626 False Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007313 MONDO:0005093 False cheilitis glandularis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007314 MONDO:0003847 False chemodectoma, intraabdominal, with cutaneous angiolipomas hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007315 MONDO:0005172 False cherubism skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0015356 False cherubism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007315 MONDO:0023603 False cherubism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0015356 False cherubism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007315 MONDO:0023603 False cherubism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007316 MONDO:0000115 False Chiari malformation type I Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0002254 False Alagille syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0003847 False Alagille syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0004868 False Alagille syndrome biliary tract disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0005267 False Alagille syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007318 MONDO:0005328 False Alagille syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007318 MONDO:0002254 False Alagille syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007318 MONDO:0003847 False Alagille syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007318 MONDO:0004868 False Alagille syndrome biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007318 MONDO:0005267 False Alagille syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007318 MONDO:0005328 False Alagille syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007319 MONDO:0001314 False chondrocalcinosis 2 chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0005554 False chondrocalcinosis 2 rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007319 MONDO:0019052 False chondrocalcinosis 2 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007319 MONDO:0019052 False chondrocalcinosis 2 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0023603 False chondrocalcinosis 2 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007319 MONDO:0800096 False chondrocalcinosis 2 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007320 MONDO:0001314 False chondrocalcinosis due to apatite crystal deposition chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007321 MONDO:0015775 False autosomal dominant chondrodysplasia punctata non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007322 MONDO:0007321 False chondrodysplasia punctata, tibial-metacarpal type autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007322 MONDO:0007321 False chondrodysplasia punctata, tibial-metacarpal type autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007323 MONDO:0003847 False Chondronectin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007325 MONDO:0001595 False choreoathetosis, familial inverted choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007325 MONDO:0003847 False choreoathetosis, familial inverted hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007328 MONDO:0003847 False choroidal osteoma, bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007329 MONDO:0003847 False cirrhosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007329 MONDO:0005155 False cirrhosis, familial cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007329 MONDO:0100137 False cirrhosis, familial telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007329 MONDO:0003847 False cirrhosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007329 MONDO:0005155 False cirrhosis, familial cirrhosis of liver UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007329 MONDO:0100137 False cirrhosis, familial telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007330 MONDO:0003847 False congenital pseudoarthrosis of clavicle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007332 MONDO:0018050 False split-hand/foot malformation with long bone deficiency 1 tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007333 MONDO:0003847 False van der Woude syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007333 MONDO:0019508 False van der Woude syndrome 1 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007334 MONDO:0000426 False autosomal dominant popliteal pterygium syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007334 MONDO:0015160 False autosomal dominant popliteal pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007340 MONDO:0002254 False cleidocranial dysplasia 1 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007340 MONDO:0002254 False cleidocranial dysplasia 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007341 MONDO:0002254 False cleidorhizomelic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007342 MONDO:0016046 False clubfoot familial clubfoot with or without associated lower limb anomalies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007342 MONDO:0019713 False clubfoot non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007343 MONDO:0021147 False isolated congenital digital clubbing disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007344 MONDO:0003847 False cluster headache, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007344 MONDO:0043537 False cluster headache, familial cluster headache syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007345 MONDO:0003847 False aorta coarctation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007345 MONDO:0005561 False aorta coarctation aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007345 MONDO:0003847 False aorta coarctation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007345 MONDO:0005561 False aorta coarctation aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007346 MONDO:0000426 False cochleosaccular degeneration-cataract syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007346 MONDO:0002254 False cochleosaccular degeneration-cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007350 MONDO:0001476 False coloboma, ocular, autosomal dominant coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0001476 False coloboma of macula coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0020242 False coloboma of macula hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007353 MONDO:0020242 False coloboma of macula-brachydactyly type B syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007354 MONDO:0001476 False coloboma of optic nerve coloboma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007354 MONDO:0003847 False coloboma of optic nerve hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007354 MONDO:0001476 False coloboma of optic nerve coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007354 MONDO:0003847 False coloboma of optic nerve hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007357 MONDO:0003847 False colonic varices without portal hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007358 MONDO:0003847 False comedones, familial Dyskeratotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007359 MONDO:0003847 False commissural lip pits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007360 MONDO:0018878 False branchiootic syndrome 2 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007361 MONDO:0000015 False C1 inhibitor deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007361 MONDO:0027749 False C1 inhibitor deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007362 MONDO:0019200 False cone-rod dystrophy 2 retinitis pigmentosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007363 MONDO:0002320 False congenital contractural arachnodactyly congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007363 MONDO:0008779 False congenital contractural arachnodactyly arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007364 MONDO:0019942 False arthrogryposis, distal, type 2E distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007362 MONDO:0019200 False cone-rod dystrophy 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007363 MONDO:0002320 False congenital contractural arachnodactyly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007363 MONDO:0008779 False congenital contractural arachnodactyly arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007364 MONDO:0019942 False arthrogryposis, distal, type 2E distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007369 MONDO:0800180 False hereditary coproporphyria CPOX-related hereditary coproporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007370 MONDO:0003847 False coracoclavicular joint, anomalous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007371 MONDO:0003847 False cornea guttata with anterior polar cataracts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007373 MONDO:0003847 False corneal degeneration, ribbonlike, with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007375 MONDO:0000764 False epithelial basement membrane dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007376 MONDO:0003847 False fleck corneal dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007379 MONDO:0003847 False Meesmann corneal dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007375 MONDO:0000764 False epithelial basement membrane dystrophy epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007376 MONDO:0003847 False fleck corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007379 MONDO:0003847 False Meesmann corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007380 MONDO:0000764 False lattice corneal dystrophy type I epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007380 MONDO:0004686 False lattice corneal dystrophy type I lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007383 MONDO:0024458 False Stern-Lubinsky-Durrie syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21885,7 +21920,7 @@ MONDO:0007393 MONDO:0003847 False cranioacrofacial syndrome hereditary disease U MONDO:0007396 MONDO:0002933 False dysostosis, Stanescu type osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007398 MONDO:0003847 False craniorhiny hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007399 MONDO:0018971 False TWIST1-related craniosynostosis isolated oxycephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007400 MONDO:0019796 False Jackson-Weiss syndrome acrocephalosyndactyly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007400 MONDO:0019796 False Jackson-Weiss syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007401 MONDO:0001150 False craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007402 MONDO:0003847 False creatine phosphokinase, elevated serum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007403 MONDO:0005357 False inherited Creutzfeldt-Jakob disease Creutzfeldt Jacob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21898,9 +21933,9 @@ MONDO:0007414 MONDO:0005554 False Gorham-Stout disease rheumatic disorder UNSUPP MONDO:0007416 MONDO:0005334 False Balkan nephropathy hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007417 MONDO:0100118 False Darier disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007418 MONDO:0003847 False Darwinian tubercle of pinna hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007420 MONDO:0002051 False autosomal dominant deafness - onychodystrophy syndrome integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007420 MONDO:0002051 False autosomal dominant deafness - onychodystrophy syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007421 MONDO:0003847 False deafness-ear malformation-facial palsy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007422 MONDO:0002051 False keratoderma hereditarium mutilans integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007422 MONDO:0002051 False keratoderma hereditarium mutilans integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007423 MONDO:0003847 False deafness, mid-tone neural hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007425 MONDO:0003847 False deafness, sensorineural, with peripheral neuropathy and arterial disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007426 MONDO:0003847 False deafness, unilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21908,9 +21943,9 @@ MONDO:0007427 MONDO:0003847 False deafness with anhidrotic ectodermal dysplasia MONDO:0007429 MONDO:0014720 False optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007430 MONDO:0003847 False dens evaginatus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007431 MONDO:0003847 False dens in dente and palatal invaginations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007432 MONDO:0002254 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007432 MONDO:0003847 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007432 MONDO:0005385 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007432 MONDO:0002254 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007432 MONDO:0003847 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007432 MONDO:0005385 False cerebral arteriopathy with subcortical infarcts and leukoencephalopathy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007433 MONDO:0003847 False dementia/parkinsonism with non-Alzheimer amyloid plaques hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007436 MONDO:0003847 False dentin dysplasia type I hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007437 MONDO:0003847 False dentin dysplasia type II hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21920,15 +21955,15 @@ MONDO:0007440 MONDO:0003847 False major affective disorder 1 hereditary disease MONDO:0007440 MONDO:0004985 False major affective disorder 1 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007441 MONDO:0003847 False dentinogenesis imperfecta type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007442 MONDO:0003847 False dentinogenesis imperfecta type 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007443 MONDO:0018923 False congenital unilateral hypoplasia of depressor anguli oris 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007443 MONDO:0018923 False congenital unilateral hypoplasia of depressor anguli oris 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007444 MONDO:0003847 False dermal Ridges, patternless hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007446 MONDO:0100118 False dermatosis papulosa nigra hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0000426 False autosomal dominant vibratory urticaria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0006618 False autosomal dominant vibratory urticaria vibratory urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007447 MONDO:0100118 False autosomal dominant vibratory urticaria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007450 MONDO:0003381 False neurohypophyseal diabetes insipidus pituitary gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007450 MONDO:0003381 False neurohypophyseal diabetes insipidus pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007450 MONDO:0100191 False neurohypophyseal diabetes insipidus inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007454 MONDO:0010255 False type 1 diabetes mellitus 2 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007454 MONDO:0010255 False type 1 diabetes mellitus 2 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007456 MONDO:0003847 False diarrhea, glucose-stimulated secretory, with common variable immunodeficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007457 MONDO:0003847 False diastema, dental medial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007458 MONDO:0015240 False digitotalar dysmorphism; ulnar drift, hereditary digitotalar dysmorphism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21942,9 +21977,9 @@ MONDO:0007467 MONDO:0003847 False DNA, low-repetitive sequences of hereditary di MONDO:0007469 MONDO:0003847 False double nail for fifth toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007470 MONDO:0800064 False calvarial doughnut lesions-bone fragility syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007471 MONDO:0016420 False Doyne honeycomb retinal dystrophy familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007472 MONDO:0001666 False basal laminar drusen retinal dystrophies primarily involving Bruch's membrane UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007473 MONDO:0002254 False Duane retraction syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007473 MONDO:0003847 False Duane retraction syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007472 MONDO:0001666 False basal laminar drusen retinal dystrophies primarily involving Bruch's membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007473 MONDO:0002254 False Duane retraction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007473 MONDO:0003847 False Duane retraction syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007473 MONDO:0015083 False Duane retraction syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007474 MONDO:0003847 False duodenal ulcer due to antral G-cell hyperfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007475 MONDO:0003847 False duodenal ulcer, hyperpepsinogenemic 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21953,15 +21988,15 @@ MONDO:0007476 MONDO:0016037 False familial Dupuytren contracture superficial Fib MONDO:0007479 MONDO:0003847 False dwarfism, Levi type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007480 MONDO:0003847 False dwarfism with stiff joints and ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007482 MONDO:0002254 False dyschondrosteosis-nephritis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007485 MONDO:0100137 False dyskeratosis congenita, autosomal dominant 1 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007486 MONDO:0002254 False hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007485 MONDO:0100137 False dyskeratosis congenita, autosomal dominant 1 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007486 MONDO:0002254 False hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007487 MONDO:0020573 False dyslexia, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007488 MONDO:0000510 False Lewy body dementia synucleinopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007488 MONDO:0000510 False Lewy body dementia synucleinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007488 MONDO:0015547 False Lewy body dementia hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007491 MONDO:0003847 False dystelephalangy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007492 MONDO:0100016 False early-onset generalized limb-onset dystonia early-onset generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007495 MONDO:0100184 False dystonia 5 GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007496 MONDO:0021095 False dystonia 12 parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007496 MONDO:0021095 False dystonia 12 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007496 MONDO:0700002 False dystonia 12 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007497 MONDO:0003847 False ear antitragus, tag at base of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007498 MONDO:0003847 False ear exostoses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21969,12 +22004,12 @@ MONDO:0007499 MONDO:0003847 False ear folding hereditary disease UNSUPPORTED-MIS MONDO:0007500 MONDO:0003847 False ear malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007501 MONDO:0003847 False preauricular fistulae, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007502 MONDO:0003847 False ear pits, posterior helical hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007503 MONDO:0010920 False ear without helix microtia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007503 MONDO:0010920 False ear without helix microtia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007504 MONDO:0003847 False thickened earlobes-conductive deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007505 MONDO:0003847 False earring holes, natural hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007507 MONDO:0100118 False absence of fingerprints-congenital milia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007508 MONDO:0004747 False Rapp-Hodgkin syndrome cleft lip UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007508 MONDO:0016064 False Rapp-Hodgkin syndrome cleft palate UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007508 MONDO:0004747 False Rapp-Hodgkin syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007508 MONDO:0016064 False Rapp-Hodgkin syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007509 MONDO:0015884 False ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant autosomal dominant hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007512 MONDO:0003847 False ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007513 MONDO:0003847 False ectodermal dysplasia with adrenal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21985,54 +22020,54 @@ MONDO:0007518 MONDO:0003847 False edema, familial idiopathic, prepubertal heredi MONDO:0007518 MONDO:0700007 False edema, familial idiopathic, prepubertal idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007522 MONDO:0000426 False Ehlers-Danlos syndrome, classic type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007524 MONDO:0017314 False autosomal dominant Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007528 MONDO:0020066 False Ehlers-Danlos syndrome, autosomal dominant, type unspecified Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007529 MONDO:0021154 False elastosis perforans serpiginosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007528 MONDO:0020066 False Ehlers-Danlos syndrome, autosomal dominant, type unspecified Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007529 MONDO:0021154 False elastosis perforans serpiginosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007530 MONDO:0003847 False electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007531 MONDO:0003847 False electroencephalographic peculiarity: fronto-precentral beta wave groups hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007533 MONDO:0003689 False elliptocytosis 2 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007533 MONDO:0017319 False elliptocytosis 2 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007534 MONDO:0024573 False Beckwith-Wiedemann syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007534 MONDO:0024573 False Beckwith-Wiedemann syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007535 MONDO:0003847 False emphysema, hereditary pulmonary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007535 MONDO:0004849 False emphysema, hereditary pulmonary pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007536 MONDO:0004849 False congenital lobar emphysema pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007536 MONDO:0004849 False congenital lobar emphysema pulmonary emphysema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0002254 False encephalopathy, recurrent, of childhood syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0005560 False encephalopathy, recurrent, of childhood brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007539 MONDO:0100198 False encephalopathy, recurrent, of childhood Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007541 MONDO:0020573 False endometriosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007542 MONDO:0002254 False Camurati-Engelmann disease syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007542 MONDO:0002254 False Camurati-Engelmann disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007544 MONDO:0003847 False eosinophilia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007545 MONDO:0003847 False Eosinophilopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007546 MONDO:0019452 False myeloproliferative disorder, chronic, with eosinophilia myeloproliferative neoplasm, unclassifiable UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007546 MONDO:0023603 False myeloproliferative disorder, chronic, with eosinophilia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007553 MONDO:0003847 False epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007569 MONDO:0003847 False erythema nodosum, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007570 MONDO:0005093 False erythema palmare hereditarium skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007571 MONDO:0016028 False primary erythermalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007571 MONDO:0016028 False primary erythermalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007573 MONDO:0015356 False erythroleukemia, familial, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007574 MONDO:0100118 False spinocerebellar ataxia type 34 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007576 MONDO:0003274 False esophageal cancer thoracic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007576 MONDO:0003274 False esophageal cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007577 MONDO:0003847 False esophageal ring, lower hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007581 MONDO:0003847 False exchondrosis of pinna, posterior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007584 MONDO:0003847 False exostoses-anetodermia-brachydactyly type E syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007587 MONDO:0024623 False external auditory canal atresia-vertical talus-hypertelorism syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007590 MONDO:0019716 False hemifacial hypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007590 MONDO:0019716 False hemifacial hypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007593 MONDO:0003847 False facial spasm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007594 MONDO:0100240 False factor 5 excess with spontaneous thrombosis inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007594 MONDO:0100240 False factor 5 excess with spontaneous thrombosis inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007595 MONDO:0021181 False factor VII and Factor VIII, combined deficiency of inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007597 MONDO:0003847 False factor VIII and Factor IX, combined deficiency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007598 MONDO:0003847 False factors VIII, IX and XI, combined deficiency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007599 MONDO:0003847 False factor 9 and Factor XI, combined deficiency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007600 MONDO:0100238 False primary Fanconi syndrome inherited Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007601 MONDO:0018088 False familial Mediterranean fever, autosomal dominant familial Mediterranean fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007603 MONDO:0008383 False Felty syndrome rheumatoid arthritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007604 MONDO:0019713 False femoral-facial syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007603 MONDO:0008383 False Felty syndrome rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007604 MONDO:0019713 False femoral-facial syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007605 MONDO:0003847 False fibrinolytic defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007606 MONDO:0005172 False fibrodysplasia ossificans progressiva skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007608 MONDO:0023603 False desmoid tumor hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007608 MONDO:0023603 False desmoid tumor hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007612 MONDO:0021147 False gingival fibromatosis-progressive deafness syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007614 MONDO:0004746 False congenital fibrosis of extraocular muscles myopathy of extraocular muscle UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007614 MONDO:0004746 False congenital fibrosis of extraocular muscles myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007615 MONDO:0800066 False laurin-Sandrow syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007616 MONDO:0003847 False fibula, recurrent dislocation of head of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007617 MONDO:0700120 False Coffin-Siris syndrome 1 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22047,7 +22082,7 @@ MONDO:0007626 MONDO:0003847 False familial congenital palsy of trochlear nerve h MONDO:0007626 MONDO:0015083 False familial congenital palsy of trochlear nerve nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007628 MONDO:0800183 False foveal hypoplasia 1 PAX6-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007629 MONDO:0003847 False fragile site 10Q23 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007631 MONDO:0002254 False chromosome 16p12.1 deletion syndrome, 520kb syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007631 MONDO:0002254 False chromosome 16p12.1 deletion syndrome, 520kb syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007631 MONDO:0016894 False chromosome 16p12.1 deletion syndrome, 520kb partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007633 MONDO:0003847 False Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007634 MONDO:0003847 False intellectual disability, FRA12A type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22057,20 +22092,20 @@ MONDO:0007639 MONDO:0100443 False fundus albipunctatus RDH5-related retinopathy MONDO:0007639 MONDO:0100444 False fundus albipunctatus RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007642 MONDO:0004868 False isolated agenesis of gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007643 MONDO:0003847 False gamma-A-globulin, defect in assembly of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007644 MONDO:0001341 False IgAD1 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007646 MONDO:0003847 False Gamstorp-Wohlfart syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007644 MONDO:0001341 False IgAD1 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007646 MONDO:0003847 False Gamstorp-Wohlfart syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007647 MONDO:0003847 False gastric volvulus, intrathoracic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007650 MONDO:0003847 False MALT lymphoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007652 MONDO:0003847 False gastric mucosal hypertrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007650 MONDO:0003847 False MALT lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007652 MONDO:0003847 False gastric mucosal hypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007653 MONDO:0018230 False genochondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007654 MONDO:0003847 False genu valgum, st. Helena familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007656 MONDO:0003847 False Gerstmann-Straussler-Scheinker syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007656 MONDO:0003847 False Gerstmann-Straussler-Scheinker syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007657 MONDO:0003847 False giant neutrophil leukocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007660 MONDO:0002119 False familial ossifying fibroma ossifying fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007660 MONDO:0023603 False familial ossifying fibroma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007661 MONDO:0002254 False Tourette syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007661 MONDO:0003847 False Tourette syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007661 MONDO:0005395 False Tourette syndrome movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007661 MONDO:0002254 False Tourette syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0003847 False Tourette syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007661 MONDO:0005395 False Tourette syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007662 MONDO:0019628 False anterior segment dysgenesis 4 Rieger anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007663 MONDO:0018174 False glaucoma with elevated episcleral venous pressure hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007664 MONDO:0020367 False glaucoma 1, open angle, A juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22078,7 +22113,7 @@ MONDO:0007666 MONDO:0002254 False glaucoma-sleep apnea syndrome syndromic diseas MONDO:0007666 MONDO:0005328 False glaucoma-sleep apnea syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007667 MONDO:0016697 False subependymoma low grade ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007668 MONDO:0003847 False globulin anomaly involving beta (2A)-globulin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007669 MONDO:0002254 False renal cysts and diabetes syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007669 MONDO:0002254 False renal cysts and diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007670 MONDO:0002254 False hypotrichosis-lymphedema-telangiectasia syndrome (grouping) syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007671 MONDO:0100191 False fibronectin glomerulopathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007672 MONDO:0024291 False glomuvenous malformation vascular malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22092,59 +22127,59 @@ MONDO:0007679 MONDO:0002254 False GMS syndrome syndromic disease UNSUPPORTED-MIS MONDO:0007682 MONDO:0003847 False granddad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007683 MONDO:0003847 False Grant syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007685 MONDO:0003847 False granulosis rubra nasi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007686 MONDO:0002254 False gray platelet syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007686 MONDO:0002254 False gray platelet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007687 MONDO:0003847 False graying of hair, precocious hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007688 MONDO:0000508 False Myhre syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007688 MONDO:0002320 False Myhre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007688 MONDO:0002320 False Myhre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007689 MONDO:0003847 False guanylate kinase 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007690 MONDO:0019052 False aromatase excess syndrome inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007690 MONDO:0019052 False aromatase excess syndrome inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007691 MONDO:0003847 False Guillain-Barre syndrome, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007691 MONDO:0016218 False Guillain-Barre syndrome, familial Guillain-Barre syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007694 MONDO:0003847 False hairy nose tip hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007695 MONDO:0003847 False hairy palms and soles hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007697 MONDO:0003847 False hand clasping pattern hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007698 MONDO:0005039 False hand-foot-genital syndrome reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007699 MONDO:0003847 False Hashimoto thyroiditis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007698 MONDO:0005039 False hand-foot-genital syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007699 MONDO:0003847 False Hashimoto thyroiditis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007699 MONDO:0005623 False Hashimoto thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007702 MONDO:0007732 False heart-hand syndrome type 3 Holt-Oram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007702 MONDO:0007732 False heart-hand syndrome type 3 Holt-Oram syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007704 MONDO:0020573 False osteoarthritis susceptibility 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007706 MONDO:0003847 False cavernous hemangiomas of face-supraumbilical midline raphe syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007707 MONDO:0006500 False hemangiomas of small intestine hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007707 MONDO:0021501 False hemangiomas of small intestine benign neoplasm of small intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007708 MONDO:0003847 False Kasabach-Merritt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007710 MONDO:0002254 False facial hemiatrophy syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007708 MONDO:0003847 False Kasabach-Merritt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007710 MONDO:0002254 False facial hemiatrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007711 MONDO:0002254 False Bencze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007712 MONDO:0003847 False oculoauriculovertebral spectrum with radial defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007713 MONDO:0005395 False clonic hemifacial spasm movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007715 MONDO:0003847 False hemolytic poikilocytic anemia due to reduced ankyrin binding sites hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007716 MONDO:0002254 False alpha thalassemia-intellectual disability syndrome type 1 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007716 MONDO:0002254 False alpha thalassemia-intellectual disability syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007717 MONDO:0003847 False hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007720 MONDO:0003847 False hernia, double inguinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007722 MONDO:0003847 False heterochromia iridis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007723 MONDO:0100179 False Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007724 MONDO:0015159 False hirsutism-skeletal dysplasia-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007726 MONDO:0016761 False hip dysplasia, Beukes type spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007726 MONDO:0016761 False hip dysplasia, Beukes type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007730 MONDO:0003847 False histiocytic dermatoarthritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0005267 False Holt-Oram syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007732 MONDO:0019713 False Holt-Oram syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007732 MONDO:0005267 False Holt-Oram syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007732 MONDO:0019713 False Holt-Oram syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007735 MONDO:0001294 False congenital Horner syndrome Horner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007736 MONDO:0003847 False HPA 1 Recognition polymorphism, beta-globin-related hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007737 MONDO:0003847 False humeroradial synostosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007737 MONDO:0003847 False humeroradial synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007738 MONDO:0000226 False spondyloepiphyseal dysplasia with congenital joint dislocations mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007739 MONDO:0000167 False Huntington disease Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007739 MONDO:0005395 False Huntington disease movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007739 MONDO:0005395 False Huntington disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007740 MONDO:0020248 False Wagner disease vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007741 MONDO:0005510 False congenital hydronephrosis hydronephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007741 MONDO:0005510 False congenital hydronephrosis hydronephrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007742 MONDO:0003847 False 5-hydroxytryptamine oxygenase regulator hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007743 MONDO:0000592 False attention deficit-hyperactivity disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007744 MONDO:0001336 False cholesterol-ester transfer protein deficiency familial hyperlipidemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007745 MONDO:0002254 False Gilbert syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007744 MONDO:0001336 False cholesterol-ester transfer protein deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007745 MONDO:0002254 False Gilbert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007746 MONDO:0003847 False orthostatic hypotensive disorder, Streeten type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007747 MONDO:0100118 False isolated hyperchlorhidrosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007748 MONDO:0002118 False hypercalciuria, absorptive, 2 urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007748 MONDO:0003847 False hypercalciuria, absorptive, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007752 MONDO:0003847 False hyperheparinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007753 MONDO:0003847 False Frey syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007753 MONDO:0003847 False Frey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007754 MONDO:0003847 False hyperhidrosis palmaris ET plantaris hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007755 MONDO:0003847 False hyperimmunoglobulin G1(A1) syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0000426 False hyperkeratosis-hyperpigmentation syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22157,12 +22192,12 @@ MONDO:0007767 MONDO:0015027 False hyperparathyroidism 1 familial isolated hyperp MONDO:0007767 MONDO:0019060 False hyperparathyroidism 1 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0023603 False hyperparathyroidism 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007767 MONDO:0800096 False hyperparathyroidism 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0019060 False hyperparathyroidism 2 with jaw tumors bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007768 MONDO:0023603 False hyperparathyroidism 2 with jaw tumors hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0019060 False hyperparathyroidism 2 with jaw tumors bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007768 MONDO:0023603 False hyperparathyroidism 2 with jaw tumors hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007768 MONDO:0800096 False hyperparathyroidism 2 with jaw tumors abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007769 MONDO:0003847 False hyperpigmentation of eyelid hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007769 MONDO:0003847 False hyperpigmentation of eyelid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007770 MONDO:0003847 False hyperpigmentation of Fuldauer and Kuijpers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007771 MONDO:0013648 False hyperpigmentation with or without hypopigmentation, familial progressive familial progressive hyperpigmentation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007771 MONDO:0013648 False hyperpigmentation with or without hypopigmentation, familial progressive familial progressive hyperpigmentation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007771 MONDO:0100118 False hyperpigmentation with or without hypopigmentation, familial progressive hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007773 MONDO:0003847 False hyperproglucagonemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007774 MONDO:0003847 False hyperreflexia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22174,17 +22209,17 @@ MONDO:0007781 MONDO:0001134 False essential hypertension, genetic essential hype MONDO:0007781 MONDO:0003847 False essential hypertension, genetic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007781 MONDO:0020573 False essential hypertension, genetic inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007782 MONDO:0003847 False hyperthermia, cutaneous, with headaches and nausea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007784 MONDO:0001328 False selective pituitary resistance to thyroid hormone thyroid hormone resistance syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007784 MONDO:0001328 False selective pituitary resistance to thyroid hormone thyroid hormone resistance syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007788 MONDO:0005347 False hypertriglyceridemia 1 hypertriglyceridemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007789 MONDO:0003847 False hypertrophia musculorum vera hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007791 MONDO:0800096 False familial hypocalciuric hypercalcemia 1 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007794 MONDO:0015770 False hypogonadotropic hypogonadism 7 with or without anosmia congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007795 MONDO:0002254 False mullerian duct anomalies-limb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007795 MONDO:0005039 False mullerian duct anomalies-limb anomalies syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007797 MONDO:0002254 False hypoparathyroidism-deafness-renal disease syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007797 MONDO:0002254 False hypoparathyroidism-deafness-renal disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007799 MONDO:0003847 False hypophosphatemic bone disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007800 MONDO:0002254 False chromosome 18p deletion syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007803 MONDO:0005395 False multiple system atrophy movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007800 MONDO:0002254 False chromosome 18p deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007803 MONDO:0005395 False multiple system atrophy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007804 MONDO:0015160 False Pallister-Hall syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007804 MONDO:0800066 False Pallister-Hall syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007805 MONDO:0019575 False hypotrichosis 2 hypotrichosis simplex of the scalp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22193,10 +22228,10 @@ MONDO:0007810 MONDO:0024304 False autosomal dominant ichthyosis vulgaris ichthyo MONDO:0007811 MONDO:0002254 False ichthyosis-cheek-eyebrow syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007811 MONDO:0003847 False ichthyosis-cheek-eyebrow syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007812 MONDO:0017778 False ichthyosis, lamellar, autosomal dominant lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007813 MONDO:0017339 False superficial epidermolytic ichthyosis exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007814 MONDO:0015517 False immune deficiency, familial variable common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007817 MONDO:0004980 False IgE responsiveness, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007819 MONDO:0007733 False solitary median maxillary central incisor syndrome holoprosencephaly 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007813 MONDO:0017339 False superficial epidermolytic ichthyosis exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007814 MONDO:0015517 False immune deficiency, familial variable common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007817 MONDO:0004980 False IgE responsiveness, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007819 MONDO:0007733 False solitary median maxillary central incisor syndrome holoprosencephaly 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007819 MONDO:0017219 False solitary median maxillary central incisor syndrome microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007820 MONDO:0003847 False fused mandibular incisors hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007824 MONDO:0003847 False incisors, lower central, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22207,31 +22242,31 @@ MONDO:0007830 MONDO:0003847 False insensitivity to pain with hyperplastic Myelin MONDO:0007831 MONDO:0003847 False insect Stings, hypersensitivity to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007832 MONDO:0003847 False interferon antiviral depressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007833 MONDO:0003847 False iris pigment layer, cleavage of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007834 MONDO:0001933 False islet cell adenomatosis endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007834 MONDO:0003847 False islet cell adenomatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007835 MONDO:0003847 False intussusception hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007838 MONDO:0002254 False Jacobsen syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007834 MONDO:0001933 False islet cell adenomatosis endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007834 MONDO:0003847 False islet cell adenomatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007835 MONDO:0003847 False intussusception hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007838 MONDO:0002254 False Jacobsen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007839 MONDO:0002320 False Aase-Smith syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007840 MONDO:0003847 False internal carotid artery, spontaneous dissection of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007841 MONDO:0018230 False coxopodopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007842 MONDO:0020066 False joint laxity, familial Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007844 MONDO:0018800 False hypogonadotropic hypogonadism 2 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007841 MONDO:0018230 False coxopodopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007842 MONDO:0020066 False joint laxity, familial Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007844 MONDO:0018800 False hypogonadotropic hypogonadism 2 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007845 MONDO:0015356 False Kaposi sarcoma, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007845 MONDO:0015979 False Kaposi sarcoma, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007846 MONDO:0000508 False KBG syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007846 MONDO:0002320 False KBG syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007846 MONDO:0003847 False KBG syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007846 MONDO:0000508 False KBG syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007846 MONDO:0002320 False KBG syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007846 MONDO:0003847 False KBG syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007847 MONDO:0003847 False keloid formation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007848 MONDO:0018102 False autosomal dominant keratitis corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007848 MONDO:0018102 False autosomal dominant keratitis corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007849 MONDO:0003847 False keratitis fugax hereditaria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007853 MONDO:0002254 False palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007855 MONDO:0003847 False keratosis, familial actinic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007858 MONDO:0019332 False palmoplantar keratoderma, punctate type 1A punctate palmoplantar keratoderma type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007859 MONDO:0019272 False palmoplantar keratoderma i, striate, focal, or diffuse hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007861 MONDO:0015337 False isolated cloverleaf skull syndrome isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007863 MONDO:0002254 False Kleine-Levin syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0003847 False angioosteohypertrophic syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007864 MONDO:0005385 False angioosteohypertrophic syndrome vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007863 MONDO:0002254 False Kleine-Levin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007864 MONDO:0003847 False angioosteohypertrophic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007864 MONDO:0005385 False angioosteohypertrophic syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007865 MONDO:0003847 False knuckle pads hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007869 MONDO:0003847 False Kyrle disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007870 MONDO:0003847 False labia minora, incomplete adhesion of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22240,22 +22275,22 @@ MONDO:0007873 MONDO:0003847 False lactic acidosis, chronic adult form hereditary MONDO:0007876 MONDO:0004382 False laryngeal abductor paralysis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007876 MONDO:0024623 False laryngeal abductor paralysis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007877 MONDO:0003847 False laryngeal adductor paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007879 MONDO:0004382 False larynx atresia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007879 MONDO:0024623 False larynx atresia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007880 MONDO:0002254 False congenital laryngeal web syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007880 MONDO:0004382 False congenital laryngeal web laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007879 MONDO:0004382 False larynx atresia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007879 MONDO:0024623 False larynx atresia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007880 MONDO:0002254 False congenital laryngeal web syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007880 MONDO:0004382 False congenital laryngeal web laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007881 MONDO:0100358 False tooth agenesis, selective, 4 ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007882 MONDO:0003847 False lattice degeneration of retina leading to retinal detachment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007883 MONDO:0003847 False periodic fever, immunodeficiency, and thrombocytopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007884 MONDO:0003847 False leg ulcers, familial, of juvenile onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007885 MONDO:0018383 False Legg-Calve-Perthes disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007886 MONDO:0005167 False uterine corpus leiomyoma fibroma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007886 MONDO:0023603 False uterine corpus leiomyoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007887 MONDO:0010641 False leiomyoma of vulva and esophagus X-linked diffuse leiomyomatosis-Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007885 MONDO:0018383 False Legg-Calve-Perthes disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007886 MONDO:0005167 False uterine corpus leiomyoma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007886 MONDO:0023603 False uterine corpus leiomyoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007887 MONDO:0010641 False leiomyoma of vulva and esophagus X-linked diffuse leiomyomatosis-Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007890 MONDO:0003847 False lentiginosis, centrofacial neurodysraphic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007894 MONDO:0019695 False Leri pleonosteosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007894 MONDO:0019695 False Leri pleonosteosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007898 MONDO:0003847 False leukocyte nuclear appendages, hereditary prevalence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007899 MONDO:0002406 False lichen sclerosus et atrophicus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007899 MONDO:0002406 False lichen sclerosus et atrophicus dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007899 MONDO:0100118 False lichen sclerosus et atrophicus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007901 MONDO:0003847 False levator-medial rectus synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007902 MONDO:0006572 False lichen planus, familial lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22264,7 +22299,7 @@ MONDO:0007905 MONDO:0003847 False lip, hamartomatous hereditary disease UNSUPPOR MONDO:0007906 MONDO:0021147 False familial partial lipodystrophy, Dunnigan type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0006105 False lipoma of the conjunctiva benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0021630 False lipoma of the conjunctiva lipoma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007908 MONDO:0000652 False multiple symmetric lipomatosis integumentary system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007908 MONDO:0000652 False multiple symmetric lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007909 MONDO:0000652 False familial multiple lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0005106 False familial multiple lipomatosis lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007910 MONDO:0003847 False lipoprotein types--Lt system hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22273,17 +22308,17 @@ MONDO:0007912 MONDO:0003847 False lithium transport hereditary disease UNSUPPORT MONDO:0007913 MONDO:0003847 False low density lipoprotein, variation in molecular weight of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007914 MONDO:0003847 False lumbar stenosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007917 MONDO:0002254 False lymphedema-cerebral arteriovenous anomaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007918 MONDO:0019313 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007918 MONDO:0019313 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007918 MONDO:0021147 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007918 MONDO:0043218 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007920 MONDO:0000486 False lymphatic malformation 5 craniofacial dystonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007920 MONDO:0000486 False lymphatic malformation 5 craniofacial dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007920 MONDO:0043218 False lymphatic malformation 5 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007920 MONDO:0044807 False lymphatic malformation 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007922 MONDO:0019313 False lymphedema-distichiasis syndrome lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007920 MONDO:0044807 False lymphatic malformation 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007922 MONDO:0019313 False lymphedema-distichiasis syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0007923 MONDO:0003847 False macrocephaly, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007924 MONDO:0005385 False Bannayan-Riley-Ruvalcaba syndrome vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007925 MONDO:0002281 False myelodysplastic syndrome associated with isolated del(5q) macrocytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007925 MONDO:0016904 False myelodysplastic syndrome associated with isolated del(5q) partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007924 MONDO:0005385 False Bannayan-Riley-Ruvalcaba syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007925 MONDO:0002281 False myelodysplastic syndrome associated with isolated del(5q) macrocytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007925 MONDO:0016904 False myelodysplastic syndrome associated with isolated del(5q) partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007931 MONDO:0700238 False vitelliform macular dystrophy 2 BEST1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007933 MONDO:0011979 False vitelliform macular dystrophy 1 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007934 MONDO:0020242 False benign concentric annular macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22293,32 +22328,32 @@ MONDO:0007937 MONDO:0017625 False renal hypomagnesemia 2 familial primary hypoma MONDO:0007938 MONDO:0016674 False 46,XY sex reversal 4 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007941 MONDO:0003847 False malocclusion due to protuberant upper front teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007942 MONDO:0003847 False Mammastatin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007943 MONDO:0002254 False Nager acrofacial dysostosis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007943 MONDO:0002254 False Nager acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007943 MONDO:0800483 False Nager acrofacial dysostosis SF3B4-related acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007945 MONDO:0003847 False mannose 6-phosphate receptor recognition defect, Lebanese type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007946 MONDO:0002254 False jaw-winking syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007946 MONDO:0002254 False jaw-winking syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007946 MONDO:0024458 False jaw-winking syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007947 MONDO:0000426 False Marfan syndrome autosomal dominant disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007947 MONDO:0002254 False Marfan syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007947 MONDO:0000426 False Marfan syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007947 MONDO:0002254 False Marfan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007947 MONDO:0005172 False Marfan syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007948 MONDO:0003847 False marfanoid hypermobility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007949 MONDO:0005328 False Marshall syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007949 MONDO:0016761 False Marshall syndrome spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007950 MONDO:0003847 False mastocytosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007949 MONDO:0005328 False Marshall syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007949 MONDO:0016761 False Marshall syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007950 MONDO:0003847 False mastocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007951 MONDO:0003847 False masticatory muscles, hypertrophy of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007952 MONDO:0003847 False maxillofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007955 MONDO:0003847 False Meckel diverticulum hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007955 MONDO:0003847 False Meckel diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007957 MONDO:0003847 False mediosternal depigmentation line hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007958 MONDO:0019003 False familial medullary thyroid carcinoma multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007958 MONDO:0019003 False familial medullary thyroid carcinoma multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007961 MONDO:0016608 False megalencephaly, autosomal dominant megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007962 MONDO:0003847 False megalodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007962 MONDO:0003847 False megalodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007962 MONDO:0021147 False megalodactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007965 MONDO:0018961 False melanoma, malignant familial intraocular familial melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007967 MONDO:0005071 False melanoma and neural system tumor syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007967 MONDO:0005071 False melanoma and neural system tumor syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007968 MONDO:0003847 False melanoma tumor antigen Gp90 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0002102 False Melkersson-Rosenthal syndrome cheilitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0002254 False Melkersson-Rosenthal syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007969 MONDO:0005492 False Melkersson-Rosenthal syndrome urticaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007969 MONDO:0002102 False Melkersson-Rosenthal syndrome cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007969 MONDO:0002254 False Melkersson-Rosenthal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007969 MONDO:0005492 False Melkersson-Rosenthal syndrome urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007972 MONDO:0018751 False Meniere disease hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007972 MONDO:0037940 False Meniere disease inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007973 MONDO:0003847 False mental and growth retardation with amblyopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22327,19 +22362,19 @@ MONDO:0007975 MONDO:0023757 False meralgia paraesthetica, familial meralgia pare MONDO:0007976 MONDO:0003847 False mesomelic dwarfism of hypoplastic tibia and radius type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007977 MONDO:0023599 False mesomelic dysplasia, Kantaputra type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007980 MONDO:0003847 False metachromasia of fibroblasts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007982 MONDO:0002254 False metaphyseal chondrodysplasia, Jansen type syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007983 MONDO:0002254 False Schmid metaphyseal chondrodysplasia syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007984 MONDO:0002254 False metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007982 MONDO:0002254 False metaphyseal chondrodysplasia, Jansen type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007983 MONDO:0002254 False Schmid metaphyseal chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007984 MONDO:0002254 False metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007985 MONDO:0003847 False metatarsus varus, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007986 MONDO:0016761 False metatropic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007987 MONDO:0016761 False Kniest dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007986 MONDO:0016761 False metatropic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007987 MONDO:0016761 False Kniest dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007988 MONDO:0015160 False autosomal dominant primary microcephaly multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007988 MONDO:0100500 False autosomal dominant primary microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007992 MONDO:0005328 False microcornea-glaucoma-absent frontal sinuses syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0002254 False microgastria-limb reduction defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0015160 False microgastria-limb reduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007994 MONDO:0008547 False micromelic bone dysplasia with cloverleaf skull thanatophoric dysplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007995 MONDO:0000169 False microphthalmia, isolated, with cataract 1 microphthalmia, isolated, with cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007994 MONDO:0008547 False micromelic bone dysplasia with cloverleaf skull thanatophoric dysplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007995 MONDO:0000169 False microphthalmia, isolated, with cataract 1 microphthalmia, isolated, with cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007995 MONDO:0016764 False microphthalmia, isolated, with cataract 1 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007996 MONDO:0003847 False microphthalmia, isolated, with corectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007997 MONDO:0003847 False microspherophakia with hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22350,12 +22385,12 @@ MONDO:0008003 MONDO:0000090 False autosomal dominant progressive external ophtha MONDO:0008003 MONDO:0000426 False autosomal dominant progressive external ophthalmoplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008004 MONDO:0004910 False familial mitral valve prolapse mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008004 MONDO:0042966 False familial mitral valve prolapse inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008005 MONDO:0019690 False cardiospondylocarpofacial syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002254 False Mobius syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008006 MONDO:0002320 False Mobius syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008005 MONDO:0019690 False cardiospondylocarpofacial syndrome filamin-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008006 MONDO:0002254 False Mobius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008006 MONDO:0002320 False Mobius syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008006 MONDO:0015083 False Mobius syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008006 MONDO:0015160 False Mobius syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008007 MONDO:0003847 False tooth ankylosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008007 MONDO:0003847 False tooth ankylosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008008 MONDO:0003847 False MOMO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008009 MONDO:0100118 False monilethrix hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008010 MONDO:0003847 False antigen defined by monoclonal antibody Aj9 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22365,93 +22400,93 @@ MONDO:0008014 MONDO:0003847 False nondisjunction hereditary disease UNSUPPORTED- MONDO:0008015 MONDO:0018751 False motion sickness hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008015 MONDO:0037940 False motion sickness inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008017 MONDO:0005093 False hereditary mucoepithelial dysplasia skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008018 MONDO:0018630 False Muir-Torre syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008018 MONDO:0018630 False Muir-Torre syndrome hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008020 MONDO:0003847 False multiple exostoses with spastic tetraparesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008022 MONDO:0003847 False muscle cramps, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0002254 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008023 MONDO:0004884 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008023 MONDO:0024237 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008024 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7A distal hereditary motor neuropathy type 7 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008025 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2A distal hereditary motor neuropathy type 2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008023 MONDO:0024237 False muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008024 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7A distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008025 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2A distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008027 MONDO:0003847 False muscular atrophy, malignant neurogenic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008028 MONDO:0020121 False muscular dystrophy, Barnes type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008029 MONDO:0019952 False Bethlem myopathy congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008034 MONDO:0010311 False muscular dystrophy, pseudohypertrophic, with Internalized capillaries Becker muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008029 MONDO:0019952 False Bethlem myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008034 MONDO:0010311 False muscular dystrophy, pseudohypertrophic, with Internalized capillaries Becker muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008035 MONDO:0003847 False muscular hypoplasia, congenital universal, of Krabbe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008036 MONDO:0009688 False myasthenia, limb-girdle, autoimmune myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008036 MONDO:0009688 False myasthenia, limb-girdle, autoimmune myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008037 MONDO:0003847 False myelinated optic nerve fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008038 MONDO:0100310 False ataxia-pancytopenia syndrome hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008038 MONDO:0100310 False ataxia-pancytopenia syndrome hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008039 MONDO:0005801 False tropical spastic paraparesis human T-lymphotropic virus 1 infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008041 MONDO:0016022 False myoclonic epilepsy, Hartung type early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008045 MONDO:0005395 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008045 MONDO:0005395 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008045 MONDO:0100524 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008045 MONDO:0800460 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000426 False autosomal dominant myoglobinuria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000866 False autosomal dominant myoglobinuria hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0700223 False autosomal dominant myoglobinuria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008047 MONDO:0020127 False episodic ataxia type 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008050 MONDO:0002320 False MYH7-related skeletal myopathy congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008050 MONDO:0019952 False MYH7-related skeletal myopathy congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008047 MONDO:0020127 False episodic ataxia type 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008050 MONDO:0002320 False MYH7-related skeletal myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008050 MONDO:0019952 False MYH7-related skeletal myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008052 MONDO:0003847 False myopathy with storage of glycoproteins and Glycosaminoglycans hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008056 MONDO:0024573 False myotonic dystrophy type 1 familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008056 MONDO:0024573 False myotonic dystrophy type 1 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008057 MONDO:0015285 False Carney complex, type 1 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008061 MONDO:0005328 False nail-patella syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008061 MONDO:0005328 False nail-patella syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008062 MONDO:0016158 False narcolepsy 1 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008063 MONDO:0003847 False nasal alar collapse, bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008064 MONDO:0003847 False nasal bones, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008065 MONDO:0003847 False nasal groove, familial transverse hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008066 MONDO:0003847 False nasal hyperpigmentation, familial transverse hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008067 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008069 MONDO:0009723 False necrotizing encephalomyelopathy, subacute, of Leigh, adult Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008069 MONDO:0009723 False necrotizing encephalomyelopathy, subacute, of Leigh, adult Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008069 MONDO:0020683 False necrotizing encephalomyelopathy, subacute, of Leigh, adult acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015735 False nemaline myopathy 3 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015736 False nemaline myopathy 3 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015737 False nemaline myopathy 3 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015738 False nemaline myopathy 3 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015735 False nemaline myopathy 3 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015736 False nemaline myopathy 3 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015737 False nemaline myopathy 3 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015738 False nemaline myopathy 3 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008070 MONDO:0100084 False nemaline myopathy 3 alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008071 MONDO:0005240 False autosomal dominant progressive nephropathy with hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008072 MONDO:0020573 False IgA nephropathy, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008073 MONDO:0019236 False familial juvenile hyperuricemic nephropathy type 1 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0002531 False schwannomatosis skin neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008075 MONDO:0021061 False schwannomatosis neurofibromatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008073 MONDO:0019236 False familial juvenile hyperuricemic nephropathy type 1 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008075 MONDO:0002531 False schwannomatosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008075 MONDO:0021061 False schwannomatosis neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008075 MONDO:0100118 False schwannomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008076 MONDO:0020127 False amyotrophic neuralgia hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008078 MONDO:0018975 False neurofibromatosis, familial spinal neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008078 MONDO:0018975 False neurofibromatosis, familial spinal neurofibromatosis type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008079 MONDO:0003847 False neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008080 MONDO:0008075 False neurofibromatosis, type III, mixed central and peripheral schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008080 MONDO:0008075 False neurofibromatosis, type III, mixed central and peripheral schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008081 MONDO:0021061 False neurofibromatosis, type IV, of Riccardi neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008082 MONDO:0006295 False multiple endocrine neoplasia type 2B malignant urinary system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008083 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 4 (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008082 MONDO:0006295 False multiple endocrine neoplasia type 2B malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008083 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 4 (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008084 MONDO:0003847 False neuropathy, congenital, with arthrogryposis multiplex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008088 MONDO:0003847 False neuropathy, with paraprotein in serum, cerebrospinal fluid and urine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008089 MONDO:0003847 False neutropenia, chronic familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008090 MONDO:0003847 False cyclic hematopoiesis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008093 MONDO:0005073 False nevus, epidermal melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008090 MONDO:0003847 False cyclic hematopoiesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008093 MONDO:0005073 False nevus, epidermal melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008093 MONDO:0100118 False nevus, epidermal hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008094 MONDO:0021658 False familial multiple nevi flammei vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008094 MONDO:0021658 False familial multiple nevi flammei vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008094 MONDO:0100118 False familial multiple nevi flammei hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008095 MONDO:0003847 False nevus anemicus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008095 MONDO:0021658 False nevus anemicus vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008095 MONDO:0003847 False nevus anemicus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008095 MONDO:0021658 False nevus anemicus vascular ectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008096 MONDO:0003847 False nevus flammeus of nape of neck hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008097 MONDO:0006499 False linear nevus sebaceous syndrome hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008097 MONDO:0020179 False linear nevus sebaceous syndrome palpebral nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008097 MONDO:0006499 False linear nevus sebaceous syndrome hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008097 MONDO:0020179 False linear nevus sebaceous syndrome palpebral nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008097 MONDO:0100118 False linear nevus sebaceous syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008098 MONDO:0023599 False mesomelic dwarfism, Nievergelt type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008099 MONDO:0002320 False congenital stationary night blindness autosomal dominant 2 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008099 MONDO:0002320 False congenital stationary night blindness autosomal dominant 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008100 MONDO:0003847 False nipples inverted hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008101 MONDO:0003847 False familial supernumerary nipples hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008101 MONDO:0015854 False familial supernumerary nipples supernumerary breasts UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008101 MONDO:0015854 False familial supernumerary nipples supernumerary breasts UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008103 MONDO:0003847 False noduli Cutanei, multiple, with urinary tract abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008105 MONDO:0003847 False nose, anomalous shape of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008107 MONDO:0005712 False nystagmus, hereditary vertical congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008107 MONDO:0005712 False nystagmus, hereditary vertical congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008108 MONDO:0003847 False oculocerebrocutaneous syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008108 MONDO:0005071 False oculocerebrocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008109 MONDO:0018746 False ocular cicatricial pemphigoid mucous membrane pemphigoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008111 MONDO:0005328 False oculodentodigital dysplasia eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008109 MONDO:0018746 False ocular cicatricial pemphigoid mucous membrane pemphigoid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008111 MONDO:0005328 False oculodentodigital dysplasia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008111 MONDO:0015160 False oculodentodigital dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008113 MONDO:0002254 False Schilbach-Rott syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008114 MONDO:0003847 False obsessive-compulsive disorder hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008116 MONDO:0004746 False oculopharyngeal muscular dystrophy myopathy of extraocular muscle UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008114 MONDO:0003847 False obsessive-compulsive disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008116 MONDO:0004746 False oculopharyngeal muscular dystrophy myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008118 MONDO:0021147 False odontomatosis-aortae esophagus stenosis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008121 MONDO:0003847 False onychogryposis, pedal, with keratosis plantaris and coarse hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008124 MONDO:0003847 False omphalocele, autosomal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22460,24 +22495,24 @@ MONDO:0008127 MONDO:0003847 False ophthalmomandibulomelic dysplasia hereditary d MONDO:0008128 MONDO:0003847 False ophthalmoplegia, familial static hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008129 MONDO:0003847 False ophthalmoplegia, familial total, with iris transillumination hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008131 MONDO:0014720 False optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008136 MONDO:0020249 False isolated optic nerve hypoplasia hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008136 MONDO:0020249 False isolated optic nerve hypoplasia hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008136 MONDO:0800183 False isolated optic nerve hypoplasia PAX6-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008138 MONDO:0002254 False syndromic orbital border hypoplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008140 MONDO:0003847 False ossified ear cartilages hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008141 MONDO:0003847 False ossicular malformations, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008143 MONDO:0020573 False osteoarthritis susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008145 MONDO:0023603 False Ollier disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008145 MONDO:0023603 False Ollier disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008146 MONDO:0800064 False osteogenesis imperfecta type 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008147 MONDO:0800064 False osteogenesis imperfecta type 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008148 MONDO:0800064 False osteogenesis imperfecta type 4 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008149 MONDO:0008146 False osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta type 1 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008149 MONDO:0008146 False osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008151 MONDO:0800064 False gnathodiaphyseal dysplasia osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008153 MONDO:0100118 False progressive osseous heteroplasia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008153 MONDO:0800466 False progressive osseous heteroplasia disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008154 MONDO:0005166 False osteomas of mandible osteoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008154 MONDO:0021522 False osteomas of mandible benign neoplasm of lower jaw bone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008157 MONDO:0005172 False Buschke-Ollendorff syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008157 MONDO:0021106 False Buschke-Ollendorff syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008157 MONDO:0021106 False Buschke-Ollendorff syndrome laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008158 MONDO:0006025 False dacryocystitis-osteopoikilosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008159 MONDO:0005298 False postmenopausal osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008160 MONDO:0003847 False osteosclerosis with ichthyosis and fractures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22486,56 +22521,56 @@ MONDO:0008162 MONDO:0020573 False otitis media, susceptibility to inherited dise MONDO:0008163 MONDO:0003847 False otofaciocervical syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008163 MONDO:0021147 False otofaciocervical syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008165 MONDO:0003689 False southeast Asian ovalocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008165 MONDO:0017319 False southeast Asian ovalocytosis hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008165 MONDO:0017319 False southeast Asian ovalocytosis hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008166 MONDO:0003847 False ovalocytosis, hereditary hemolytic, with defective erythropoiesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008169 MONDO:0003847 False osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008171 MONDO:0024647 False nephrolithiasis urolithiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008171 MONDO:0024647 False nephrolithiasis urolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008172 MONDO:0002081 False hypertrophic osteoarthropathy, primary, autosomal dominant musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008176 MONDO:0800464 False Paget disease of bone 3 SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008179 MONDO:0700057 False paroxysmal extreme pain disorder neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008180 MONDO:0024623 False congenital velopharyngeal incompetence otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008181 MONDO:0003847 False palmaris longus muscle, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008182 MONDO:0002254 False nasopalpebral lipoma-coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008184 MONDO:0009832 False pancreas, dorsal, agenesis of pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008185 MONDO:0003847 False hereditary chronic pancreatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008185 MONDO:0005003 False hereditary chronic pancreatitis chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008184 MONDO:0009832 False pancreas, dorsal, agenesis of pancreatic agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008185 MONDO:0003847 False hereditary chronic pancreatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008185 MONDO:0005003 False hereditary chronic pancreatitis chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008186 MONDO:0003847 False pancytopenia and occlusive vascular disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008188 MONDO:0003847 False papillomatosis, confluent and reticulated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008189 MONDO:0003847 False papillomatosis, florid, of nipple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008192 MONDO:0017366 False paragangliomas 1 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008192 MONDO:0021227 False paragangliomas 1 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008193 MONDO:0009830 False paralysis agitans, juvenile, of Hunt parkinsonian-pyramidal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008193 MONDO:0009830 False paralysis agitans, juvenile, of Hunt parkinsonian-pyramidal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008194 MONDO:0003847 False Paramolar tubercle of bolk hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0700223 False paramyotonia congenita of Von Eulenburg hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0800468 False paramyotonia congenita of Von Eulenburg SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008201 MONDO:0021095 False Perry syndrome parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008201 MONDO:0021095 False Perry syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008202 MONDO:0003847 False Parotidomegaly, hereditary bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008203 MONDO:0003847 False Passovoy factor defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008205 MONDO:0003847 False patella aplasia/hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008206 MONDO:0005395 False benign paroxysmal tonic upgaze of childhood with ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008207 MONDO:0018230 False chondromalacia patellae skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008208 MONDO:0003847 False patella, familial recurrent dislocation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008209 MONDO:0002254 False Char syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008209 MONDO:0002254 False Char syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008209 MONDO:0015160 False Char syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008211 MONDO:0005495 False pseudoleprechaunism syndrome, Patterson type adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008212 MONDO:0003847 False Pechet factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008213 MONDO:0003847 False pectus excavatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008214 MONDO:0021106 False Pelger-Huet anomaly laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008215 MONDO:0021106 False adult-onset autosomal dominant demyelinating leukodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008215 MONDO:0021106 False adult-onset autosomal dominant demyelinating leukodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008216 MONDO:0003847 False pelvic lipomatosis with crossed renal ectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008217 MONDO:0019713 False pelvis-shoulder dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008217 MONDO:0019713 False pelvis-shoulder dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008218 MONDO:0100118 False Hailey-Hailey disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008223 MONDO:0003019 False hypokalemic periodic paralysis potassium deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008223 MONDO:0003019 False hypokalemic periodic paralysis potassium deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008224 MONDO:0800468 False hyperkalemic periodic paralysis SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008225 MONDO:0000995 False normokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008225 MONDO:0000995 False normokalemic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008226 MONDO:0005593 False periodontitis, aggressive 1 chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008226 MONDO:0800465 False periodontitis, aggressive 1 CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008227 MONDO:0019695 False peripheral dysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008228 MONDO:0001700 False pernicious anemia megaloblastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008228 MONDO:0003847 False pernicious anemia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008227 MONDO:0019695 False peripheral dysostosis acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008228 MONDO:0001700 False pernicious anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008228 MONDO:0003847 False pernicious anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008229 MONDO:0003847 False peroneal nerve, accessory deep hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008230 MONDO:0003847 False peroxidase, salivary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008231 MONDO:0003847 False Peyronie disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008231 MONDO:0003847 False Peyronie disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008232 MONDO:0003847 False phagocytosis, plasma-related defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008232 MONDO:0024627 False phagocytosis, plasma-related defect 1N phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008233 MONDO:0017366 False pheochromocytoma hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22548,13 +22583,13 @@ MONDO:0008239 MONDO:0003847 False phosphoglucomutase 4 hereditary disease UNSUPP MONDO:0008240 MONDO:0003847 False 6-phosphogluconolactonase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008241 MONDO:0003847 False phosphoglycoprotein 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008242 MONDO:0003847 False photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008243 MONDO:0017276 False Pick disease frontotemporal dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008243 MONDO:0017276 False Pick disease frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008243 MONDO:0024238 False Pick disease cerebral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008243 MONDO:0044996 False Pick disease cerebral cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008244 MONDO:0005328 False piebaldism eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008244 MONDO:0005328 False piebaldism eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008244 MONDO:0021635 False piebaldism neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008244 MONDO:0100118 False piebaldism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008246 MONDO:0019118 False pigmented paravenous retinochoroidal atrophy inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008246 MONDO:0019118 False pigmented paravenous retinochoroidal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008247 MONDO:0003847 False Robin sequence-oligodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008248 MONDO:0003847 False pigmented purpuric eruption hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008249 MONDO:0003847 False pilonidal sinus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22567,9 +22602,9 @@ MONDO:0008255 MONDO:0003847 False platelet factor 3 deficiency hereditary diseas MONDO:0008256 MONDO:0003847 False platelet membrane fluidity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008257 MONDO:0003847 False platelet responsiveness to adrenaline, depressed hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008258 MONDO:0003847 False platelet signal processing defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008259 MONDO:0003847 False familial spontaneous pneumothorax hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0002254 False Poland syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008262 MONDO:0019713 False Poland syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008259 MONDO:0003847 False familial spontaneous pneumothorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008262 MONDO:0002254 False Poland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008262 MONDO:0019713 False Poland syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008262 MONDO:0700223 False Poland syndrome hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008264 MONDO:0000426 False autosomal dominant medullary cystic kidney disease with or without hyperuricemia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008266 MONDO:0019673 False polydactyly, postaxial, type A1 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22577,11 +22612,11 @@ MONDO:0008268 MONDO:0002254 False polydactyly-myopia syndrome syndromic disease MONDO:0008269 MONDO:0800066 False polydactyly of a biphalangeal thumb polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008271 MONDO:0800066 False polydactyly of an index finger polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008272 MONDO:0000722 False polysyndactyly 4 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008272 MONDO:0019052 False polysyndactyly 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008272 MONDO:0019052 False polysyndactyly 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008272 MONDO:0800066 False polysyndactyly 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008273 MONDO:0005093 False actinic prurigo skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008277 MONDO:0004298 False stomach polyp stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008277 MONDO:0005079 False stomach polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008277 MONDO:0004298 False stomach polyp stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008277 MONDO:0005079 False stomach polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008278 MONDO:0015185 False juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome intestinal polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008281 MONDO:0000147 False polyposis, intestinal, scattered and discrete polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008281 MONDO:0003847 False polyposis, intestinal, scattered and discrete hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22589,7 +22624,7 @@ MONDO:0008282 MONDO:0003847 False polyposis, intestinal, with multiple exostoses MONDO:0008284 MONDO:0000147 False polyposis of gastric fundus without polyposis coli polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008284 MONDO:0003847 False polyposis of gastric fundus without polyposis coli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008285 MONDO:0003847 False polyps, multiple and recurrent inflammatory fibroid, gastrointestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008287 MONDO:0002254 False Greig cephalopolysyndactyly syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008287 MONDO:0002254 False Greig cephalopolysyndactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008287 MONDO:0800066 False Greig cephalopolysyndactyly syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008288 MONDO:0003847 False popliteal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008289 MONDO:0800461 False brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22601,18 +22636,18 @@ MONDO:0008295 MONDO:0006504 False sporadic porphyria cutanea tarda acquired meta MONDO:0008296 MONDO:0100498 False familial porphyria cutanea tarda UROD-related inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008298 MONDO:0003847 False postaxial tetramelic oligodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008299 MONDO:0003847 False posterior column ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008300 MONDO:0002320 False Prader-Willi syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008300 MONDO:0002320 False Prader-Willi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008300 MONDO:0015160 False Prader-Willi syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0100038 False Prader-Willi syndrome complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0100500 False Prader-Willi syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008304 MONDO:0003847 False premature chromatid separation trait hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0005039 False Currarino triad reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008305 MONDO:0018230 False Currarino triad skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008305 MONDO:0005039 False Currarino triad reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008305 MONDO:0018230 False Currarino triad skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008307 MONDO:0003847 False presenile dementia, Kraepelin type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008308 MONDO:0003847 False priapism, familial idiopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008308 MONDO:0700007 False priapism, familial idiopathic idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008309 MONDO:0000009 False primary release disorder of platelets inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008310 MONDO:0006025 False Hutchinson-Gilford progeria syndrome autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008309 MONDO:0000009 False primary release disorder of platelets inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008310 MONDO:0006025 False Hutchinson-Gilford progeria syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008311 MONDO:0002254 False progeria-short stature-pigmented nevi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008313 MONDO:0020573 False pelvic organ prolapse, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008314 MONDO:0003847 False pronation-supination of the forearm, impairment of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22620,25 +22655,25 @@ MONDO:0008317 MONDO:0003847 False proteolytic capacity of plasma hereditary dise MONDO:0008319 MONDO:0019263 False protoporphyria, erythropoietic, 1 autosomal erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008320 MONDO:0003847 False Protrusio acetabuli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008321 MONDO:0003847 False pruritus, hereditary localized hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008323 MONDO:0002254 False Liddle syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008323 MONDO:0002254 False Liddle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008323 MONDO:0100191 False Liddle syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008324 MONDO:0003847 False pseudoarthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008325 MONDO:0003847 False Pseudoatrophoderma colli hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008327 MONDO:0002254 False exfoliation syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008327 MONDO:0002254 False exfoliation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008327 MONDO:0018174 False exfoliation syndrome hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008328 MONDO:0005338 False glaucoma 1, open angle, P open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008328 MONDO:0018174 False glaucoma 1, open angle, P hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008330 MONDO:0003847 False pseudomonilethrix hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008332 MONDO:0019565 False platelet-type von Willebrand disease hereditary von Willebrand disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008332 MONDO:0019565 False platelet-type von Willebrand disease hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008333 MONDO:0100091 False pseudoxanthoma elasticum, forme fruste inherited pseudoxanthoma elasticum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008334 MONDO:0100171 False psoriasis 1, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008336 MONDO:0003847 False pterygium colli, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008337 MONDO:0003847 False familial pterygium of the conjunctiva hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008337 MONDO:0005085 False familial pterygium of the conjunctiva pterygium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008340 MONDO:0003847 False ptosis, hereditary congenital, 1 hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008340 MONDO:0003847 False ptosis, hereditary congenital, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008341 MONDO:0002254 False ptosis-strabismus-ectopic pupils syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008342 MONDO:0003847 False pubic bone dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008343 MONDO:0003847 False pulmonary atresia with ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008343 MONDO:0003847 False pulmonary atresia with ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008344 MONDO:0020573 False pulmonary edema of mountaineers, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008348 MONDO:0005087 False pulmonary nodular lymphoid hyperplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008349 MONDO:0003847 False pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22654,21 +22689,21 @@ MONDO:0008359 MONDO:0003847 False radio-renal syndrome hereditary disease UNSUPP MONDO:0008361 MONDO:0003847 False radius, aplasia of, with cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008362 MONDO:0003847 False ragweed sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008363 MONDO:0003847 False raindrop hypopigmentation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008364 MONDO:0003847 False Raynaud disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008364 MONDO:0003847 False Raynaud disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008365 MONDO:0003847 False recombinant 8 syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008366 MONDO:0003847 False red cell permeability defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008367 MONDO:0003847 False red cell phospholipid defect with hemolysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008368 MONDO:0000426 False autosomal dominant distal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008369 MONDO:0001909 False proximal renal tubular acidosis renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008371 MONDO:0000118 False Dowling-Degos disease reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008372 MONDO:0018998 False retinal aplasia Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008372 MONDO:0018998 False retinal aplasia Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008373 MONDO:0800461 False retinal arterial tortuosity COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008375 MONDO:0003847 False retinal detachment hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008375 MONDO:0003847 False retinal detachment hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008376 MONDO:0003847 False retinal venous beading hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0000426 False retinoschisis, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0004579 False retinoschisis, autosomal dominant retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0019118 False retinoschisis, autosomal dominant inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008383 MONDO:0005554 False rheumatoid arthritis rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008383 MONDO:0005554 False rheumatoid arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008384 MONDO:0024280 False rheumatoid nodulosis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008385 MONDO:0003847 False rhiny hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008387 MONDO:0021220 False ring dermoid of cornea eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22678,44 +22713,44 @@ MONDO:0008390 MONDO:0003847 False Rombo syndrome hereditary disease UNSUPPORTED- MONDO:0008391 MONDO:0003847 False Robinow-Sorauf syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008392 MONDO:0002254 False Roussy-Levy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008392 MONDO:0003847 False Roussy-Levy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008394 MONDO:0002254 False Silver-Russell syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008394 MONDO:0003847 False Silver-Russell syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008394 MONDO:0002254 False Silver-Russell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008394 MONDO:0003847 False Silver-Russell syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008394 MONDO:0015160 False Silver-Russell syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008394 MONDO:0019040 False Silver-Russell syndrome chromosomal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008394 MONDO:0019040 False Silver-Russell syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008395 MONDO:0002254 False Ruvalcaba syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008396 MONDO:0002254 False oculodental syndrome, Rutherfurd type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008396 MONDO:0021147 False oculodental syndrome, Rutherfurd type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008398 MONDO:0003847 False salivary substance, Clostridium botulinum type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008399 MONDO:0020573 False sarcoidosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008400 MONDO:0003847 False salivary duct calculi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008401 MONDO:0003847 False pleomorphic adenoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008401 MONDO:0003847 False pleomorphic adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008402 MONDO:0003847 False cleft palate-large ears-small head syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0002254 False scalp defects-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0005172 False scalp defects-postaxial polydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0100118 False scalp defects-postaxial polydactyly syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008408 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0000727 False congenital myopathy 7A, myosin storage, autosomal dominant scapuloperoneal myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008409 MONDO:0002320 False congenital myopathy 7A, myosin storage, autosomal dominant congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008408 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008409 MONDO:0000727 False congenital myopathy 7A, myosin storage, autosomal dominant scapuloperoneal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008409 MONDO:0002320 False congenital myopathy 7A, myosin storage, autosomal dominant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008410 MONDO:0018383 False Scheuermann disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008411 MONDO:0015160 False ulnar-mammary syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008411 MONDO:0019713 False ulnar-mammary syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008411 MONDO:0019713 False ulnar-mammary syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008412 MONDO:0024271 False intestinal schistosomiasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008417 MONDO:0019629 False sclerocornea, autosomal dominant sclerocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008418 MONDO:0005100 False scleroderma, familial progressive systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008419 MONDO:0020573 False scoliosis, isolated, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008420 MONDO:0100118 False seborrheic keratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008423 MONDO:0012061 False sinus node disease and myopia familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008423 MONDO:0012061 False sinus node disease and myopia familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008424 MONDO:0003847 False sella turcica, bridged hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008427 MONDO:0003847 False sister chromatid exchange, frequency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008429 MONDO:0002254 False Singleton-Merten dysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008429 MONDO:0023603 False Singleton-Merten dysplasia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008430 MONDO:0003847 False skeletal dysplasia with delayed epiphyseal and carpal bone ossification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008431 MONDO:0003847 False slipped femoral capital epiphyses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008433 MONDO:0003847 False small cell lung carcinoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008434 MONDO:0000508 False Smith-Magenis syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008434 MONDO:0002320 False Smith-Magenis syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008433 MONDO:0003847 False small cell lung carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0000508 False Smith-Magenis syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008434 MONDO:0002320 False Smith-Magenis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008435 MONDO:0003847 False Somatomedin, embryonic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008436 MONDO:0019293 False Sneddon syndrome skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008436 MONDO:0019293 False Sneddon syndrome skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008436 MONDO:0100118 False Sneddon syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008436 MONDO:0100317 False Sneddon syndrome deficiency of adenosine deaminase 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008438 MONDO:0100523 False hereditary spastic paraplegia 4 SPAST-related motor disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22723,11 +22758,11 @@ MONDO:0008439 MONDO:0015087 False spastic paraplegia-epilepsy-intellectual disab MONDO:0008441 MONDO:0003847 False spastic paraplegia with associated extrapyramidal signs hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008444 MONDO:0003847 False spastic paraplegia, optic atrophy, and dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008446 MONDO:0003847 False sperm protamine P4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008449 MONDO:0002320 False spina bifida congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008449 MONDO:0002545 False spina bifida spinal cord disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008449 MONDO:0002320 False spina bifida congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008449 MONDO:0002545 False spina bifida spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008449 MONDO:0021147 False spina bifida disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008450 MONDO:0015304 False spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008451 MONDO:0015626 False neuronopathy, distal hereditary motor, autosomal dominant 1 Charcot-Marie-Tooth disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008450 MONDO:0015304 False spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008451 MONDO:0015626 False neuronopathy, distal hereditary motor, autosomal dominant 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008452 MONDO:0001516 False spinal muscular atrophy, facioscapulohumeral type spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008454 MONDO:0008813 False spinal intradural arachnoid cysts arachnoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008455 MONDO:0001516 False spinal muscular atrophy, segmental spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22742,29 +22777,29 @@ MONDO:0008466 MONDO:0003847 False Karsch-Neugebauer syndrome hereditary disease MONDO:0008467 MONDO:0002254 False Czeizel-Losonci syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008469 MONDO:0100510 False spondyloepimetaphyseal dysplasia-hypotrichosis syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008472 MONDO:0016761 False spondyloepiphyseal dysplasia, MacDermot type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008473 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Maroteaux type spondyloepimetaphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008475 MONDO:0003847 False spondylolisthesis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008473 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Maroteaux type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008475 MONDO:0003847 False spondylolisthesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008481 MONDO:0003847 False spondylosis, cervical hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008484 MONDO:0100521 False stapes ankylosis with broad thumbs and toes NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008485 MONDO:0100118 False sebocystomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008486 MONDO:0021147 False steatocystoma multiplex-natal teeth syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008487 MONDO:0002254 False polycystic ovary syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008487 MONDO:0003847 False polycystic ovary syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008487 MONDO:0002254 False polycystic ovary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008487 MONDO:0003847 False polycystic ovary syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008489 MONDO:0003847 False sternum, premature obliteration of sutures of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008491 MONDO:0002254 False stiff-person syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008491 MONDO:0002254 False stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008492 MONDO:0100118 False stiff skin syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008496 MONDO:0003847 False storm syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008498 MONDO:0020573 False strabismus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008499 MONDO:0015160 False short stature-wormian bones-dextrocardia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008500 MONDO:0003847 False striae distensae, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008501 MONDO:0003847 False Sturge-Weber syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008501 MONDO:0005328 False Sturge-Weber syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008501 MONDO:0042983 False Sturge-Weber syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008501 MONDO:0003847 False Sturge-Weber syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008501 MONDO:0005328 False Sturge-Weber syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008501 MONDO:0042983 False Sturge-Weber syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0006988 False sulfhemoglobinemia, congenital sulfhemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0009332 False sulfhemoglobinemia, congenital congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008502 MONDO:0019050 False sulfhemoglobinemia, congenital inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008503 MONDO:0005071 False Worster-Drought syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008504 MONDO:0003847 False supravalvular aortic stenosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008504 MONDO:0003847 False supravalvular aortic stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008505 MONDO:0003847 False surface antigen, glycoprotein 75 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008506 MONDO:0000151 False symphalangism of toes symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008506 MONDO:0003847 False symphalangism of toes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22777,24 +22812,24 @@ MONDO:0008509 MONDO:0021147 False distal symphalangism disorder of development o MONDO:0008510 MONDO:0000151 False symphalangism with multiple anomalies of hands and feet symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008510 MONDO:0003847 False symphalangism with multiple anomalies of hands and feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008511 MONDO:0000151 False proximal symphalangism symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008512 MONDO:0016953 False syndactyly type 1 partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008512 MONDO:0016953 False syndactyly type 1 partial duplication of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008512 MONDO:0800066 False syndactyly type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0000722 False synpolydactyly type 1 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008513 MONDO:0011348 False synpolydactyly type 1 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008513 MONDO:0011348 False synpolydactyly type 1 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008513 MONDO:0800066 False synpolydactyly type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008514 MONDO:0800066 False syndactyly type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008515 MONDO:0800066 False syndactyly type 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008516 MONDO:0800066 False syndactyly type 5 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008517 MONDO:0002254 False syndactyly-polydactyly-ear lobe syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008518 MONDO:0000426 False calcaneonavicular coalition autosomal dominant disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008518 MONDO:0000426 False calcaneonavicular coalition autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008519 MONDO:0100521 False multiple synostoses syndrome 1 NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008520 MONDO:0005497 False brachydactyly-elbow wrist dysplasia syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008520 MONDO:0018230 False brachydactyly-elbow wrist dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008520 MONDO:0018230 False brachydactyly-elbow wrist dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008521 MONDO:0100521 False tarsal-carpal coalition syndrome NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008522 MONDO:0003847 False synovial chondromatosis, familial, with dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008523 MONDO:0007179 False Blau syndrome autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008523 MONDO:0019338 False Blau syndrome sarcoidosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008523 MONDO:0023603 False Blau syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008523 MONDO:0007179 False Blau syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008523 MONDO:0019338 False Blau syndrome sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008523 MONDO:0023603 False Blau syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008524 MONDO:0003847 False syringomas, multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008525 MONDO:0020508 False syringomyelia, isolated primary syringomyelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008526 MONDO:0003847 False talonavicular coalition hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22806,9 +22841,9 @@ MONDO:0008532 MONDO:0003847 False teeth present at birth hereditary disease UNSU MONDO:0008533 MONDO:0003847 False teeth, supernumerary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008536 MONDO:0003847 False temperature-sensitive lethal mutation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008537 MONDO:0003382 False telecanthus eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008538 MONDO:0002341 False temporal arteritis granulomatous angiitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008541 MONDO:0003847 False spermatic cord torsion hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008542 MONDO:0003847 False tetralogy of fallot hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008538 MONDO:0002341 False temporal arteritis granulomatous angiitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008541 MONDO:0003847 False spermatic cord torsion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008542 MONDO:0003847 False tetralogy of fallot hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008543 MONDO:0003847 False tetralogy of fallot and glaucoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008544 MONDO:0003847 False tetramelic monodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008545 MONDO:0019402 False thalassemia, beta+, silent allele beta thalassemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22816,20 +22851,20 @@ MONDO:0008546 MONDO:0000426 False thanatophoric dysplasia type 1 autosomal domin MONDO:0008549 MONDO:0003847 False thoracic dysostosis, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008552 MONDO:0021181 False platelet-type bleeding disorder 16 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008554 MONDO:0019713 False thrombocythemia 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008556 MONDO:0100241 False thrombocytopenia, cyclic inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0000009 False autoimmune thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0021181 False autoimmune thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0043768 False autoimmune thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008558 MONDO:0100241 False autoimmune thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008556 MONDO:0100241 False thrombocytopenia, cyclic inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0000009 False autoimmune thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008558 MONDO:0021181 False autoimmune thrombocytopenic purpura inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0043768 False autoimmune thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008558 MONDO:0100241 False autoimmune thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008560 MONDO:0002242 False thrombophilia due to activated protein C resistance coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008561 MONDO:0003847 False thumb deformity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008564 MONDO:0001222 False DiGeorge syndrome congenital T-cell immunodeficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008564 MONDO:0001222 False DiGeorge syndrome congenital T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008564 MONDO:0018923 False DiGeorge syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008564 MONDO:0021635 False DiGeorge syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0005586 False familial thyroglossal duct cyst head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008565 MONDO:0006460 False familial thyroglossal duct cyst thyroglossal duct cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008565 MONDO:0015074 False familial thyroglossal duct cyst thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008565 MONDO:0018751 False familial thyroglossal duct cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008565 MONDO:0015074 False familial thyroglossal duct cyst thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008565 MONDO:0018751 False familial thyroglossal duct cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0005034 False thyroid cancer, nonmedullary, 2 thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0017895 False thyroid cancer, nonmedullary, 2 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008567 MONDO:0005075 False thyroid cancer, nonmedullary, 1 thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22837,19 +22872,19 @@ MONDO:0008568 MONDO:0003847 False thyroid hormone plasma membrane transport defe MONDO:0008569 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal dominant generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008570 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008571 MONDO:0017194 False Blount disease, infantile Blount disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008572 MONDO:0019713 False tibia, hypoplasia or aplasia of, with polydactyly non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008572 MONDO:0019713 False tibia, hypoplasia or aplasia of, with polydactyly non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008573 MONDO:0003847 False tibial torsion, bilateral medial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008575 MONDO:0005303 False nicotine dependence drug dependence UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008575 MONDO:0005303 False nicotine dependence drug dependence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008576 MONDO:0003847 False toe, fifth, number of phalanges 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008577 MONDO:0003847 False toe, misshapen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008578 MONDO:0003847 False toe, rotated fifth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008579 MONDO:0003847 False toes, relative length of first and second hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008580 MONDO:0003847 False toes, space between first and second hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008581 MONDO:0003847 False malposition of teeth with or without hypodontia/oligodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008583 MONDO:0023603 False inherited torticollis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008583 MONDO:0023603 False inherited torticollis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008584 MONDO:0003847 False torus palatinus and torus mandibularis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008585 MONDO:0002254 False HELLP syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008586 MONDO:0003749 False esophageal atresia/tracheoesophageal fistula esophageal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008585 MONDO:0002254 False HELLP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008586 MONDO:0003749 False esophageal atresia/tracheoesophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008587 MONDO:0005087 False tracheobronchopathia osteochondroplastica respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008588 MONDO:0005395 False hereditary geniospasm movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008589 MONDO:0003847 False tremor of intention, ataxia, and lipofuscinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22858,7 +22893,7 @@ MONDO:0008593 MONDO:0003847 False trichomegaly hereditary disease UNSUPPORTED-MI MONDO:0008594 MONDO:0002531 False familial multiple discoid fibromas skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008594 MONDO:0100118 False familial multiple discoid fibromas hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008595 MONDO:0003847 False trichoepitheliomas, multiple desmoplastic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008599 MONDO:0002602 False trigeminal neuralgia central nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008599 MONDO:0002602 False trigeminal neuralgia central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008600 MONDO:0003847 False trigger thumb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008601 MONDO:0000155 False triglyceride storage disease, type 1 triglyceride storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008602 MONDO:0000155 False triglyceride storage disease, type 2 triglyceride storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22878,9 +22913,9 @@ MONDO:0008623 MONDO:0003847 False Undritz anomaly hereditary disease UNSUPPORTED MONDO:0008624 MONDO:0002081 False Upington disease musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008624 MONDO:0003847 False Upington disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008626 MONDO:0003847 False ureter, bifid or double hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008628 MONDO:0003847 False ureterocele hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008628 MONDO:0006026 False ureterocele urinary bladder disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008629 MONDO:0003847 False urolithiasis, uric acid, autosomal dominant hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008628 MONDO:0003847 False ureterocele hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008628 MONDO:0006026 False ureterocele urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008629 MONDO:0003847 False urolithiasis, uric acid, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008630 MONDO:0003847 False urinary bladder, atony of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008632 MONDO:0005492 False urticaria, aquagenic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008632 MONDO:0100118 False urticaria, aquagenic hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22893,9 +22928,9 @@ MONDO:0008636 MONDO:0021147 False double uterus-hemivagina-renal agenesis syndro MONDO:0008639 MONDO:0003847 False vascular helix of umbilical cord hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008640 MONDO:0018882 False vasculitis, lymphocytic, nodular vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008640 MONDO:0100118 False vasculitis, lymphocytic, nodular hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008641 MONDO:0002254 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008641 MONDO:0002311 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations retinal vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008641 MONDO:0019118 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008641 MONDO:0002254 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008641 MONDO:0002311 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008641 MONDO:0019118 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008643 MONDO:0003847 False veins, pattern of, on anterior thorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008644 MONDO:0018923 False velocardiofacial syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0003847 False ventricular tachycardia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22903,89 +22938,89 @@ MONDO:0008648 MONDO:0005477 False ventricular tachycardia, familial ventricular MONDO:0008649 MONDO:0003847 False venular insufficiency, systemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008650 MONDO:0002254 False posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008651 MONDO:0003847 False vertebral hypoplasia with lumbar kyphosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008654 MONDO:0005712 False spinocerebellar ataxia 27A congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008654 MONDO:0005712 False spinocerebellar ataxia 27A congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008655 MONDO:0003847 False vestibulocochlear dysfunction, progressive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008660 MONDO:0800096 False autosomal dominant hypophosphatemic rickets abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008661 MONDO:0002406 False vitiligo dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008661 MONDO:0002406 False vitiligo dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008662 MONDO:0700240 False autosomal dominant vitreoretinochoroidopathy BEST1-related vitreoretinochoroidopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008663 MONDO:0020248 False snowflake vitreoretinal degeneration vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008665 MONDO:0002254 False ptosis-vocal cord paralysis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008666 MONDO:0003847 False volvulus of midgut hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008667 MONDO:0042983 False von Hippel-Lindau disease neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008666 MONDO:0003847 False volvulus of midgut hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008667 MONDO:0042983 False von Hippel-Lindau disease neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008669 MONDO:0005271 False vulvovaginitis, allergic seminal allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008669 MONDO:0007019 False vulvovaginitis, allergic seminal vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008671 MONDO:0019517 False Waardenburg syndrome type 2A Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008672 MONDO:0011035 False Watson syndrome neurofibromatosis-Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0002254 False Freeman-Sheldon syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0002320 False Freeman-Sheldon syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008675 MONDO:0008779 False Freeman-Sheldon syndrome arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008678 MONDO:0700092 False Williams syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008684 MONDO:0002254 False Wolf-Hirschhorn syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008671 MONDO:0019517 False Waardenburg syndrome type 2A Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008672 MONDO:0011035 False Watson syndrome neurofibromatosis-Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008675 MONDO:0002254 False Freeman-Sheldon syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008675 MONDO:0002320 False Freeman-Sheldon syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008675 MONDO:0008779 False Freeman-Sheldon syndrome arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008678 MONDO:0700092 False Williams syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008684 MONDO:0002254 False Wolf-Hirschhorn syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008685 MONDO:0800484 False Wolff-Parkinson-White syndrome PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008687 MONDO:0003847 False Woronets trait hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008689 MONDO:0003689 False dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008689 MONDO:0003689 False dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008690 MONDO:0019600 False xeroderma pigmentosum, autosomal dominant, mild xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008691 MONDO:0003847 False zinc, elevated plasma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0003689 False abetalipoproteinemia familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008692 MONDO:0005020 False abetalipoproteinemia intestinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008692 MONDO:0003689 False abetalipoproteinemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008692 MONDO:0005020 False abetalipoproteinemia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008693 MONDO:0015160 False ablepharon macrostomia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008695 MONDO:0100118 False chorea-acanthocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008696 MONDO:0007035 False acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome acanthosis nigricans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008701 MONDO:0800080 False achondrogenesis type IA severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008703 MONDO:0019648 False acromesomelic dysplasia 2A achondrogenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008703 MONDO:0019648 False acromesomelic dysplasia 2A achondrogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008708 MONDO:0800066 False acrocallosal syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008708 MONDO:0800463 False acrocallosal syndrome KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008711 MONDO:0000078 False Goodman syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008711 MONDO:0015160 False Goodman syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008716 MONDO:0100118 False acrogeria hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008719 MONDO:0006025 False acrorenal syndrome, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008719 MONDO:0007059 False acrorenal syndrome, autosomal recessive acrorenal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008720 MONDO:0013099 False congenital isolated adrenocorticotropic hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008720 MONDO:0016553 False congenital isolated adrenocorticotropic hormone deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008723 MONDO:0024573 False very long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008727 MONDO:0005039 False congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008728 MONDO:0005039 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008729 MONDO:0005039 False congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008719 MONDO:0007059 False acrorenal syndrome, autosomal recessive acrorenal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008720 MONDO:0013099 False congenital isolated adrenocorticotropic hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008720 MONDO:0016553 False congenital isolated adrenocorticotropic hormone deficiency isolated congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008723 MONDO:0024573 False very long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008727 MONDO:0005039 False congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008728 MONDO:0005039 False classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008729 MONDO:0005039 False congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008730 MONDO:0005039 False congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008732 MONDO:0010264 False adrenal hypoplasia, cytomegalic type X-linked adrenal hypoplasia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008733 MONDO:0003847 False familial glucocorticoid deficiency hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008732 MONDO:0010264 False adrenal hypoplasia, cytomegalic type X-linked adrenal hypoplasia congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008733 MONDO:0003847 False familial glucocorticoid deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008734 MONDO:0003008 False adrenocortical carcinoma, hereditary hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008734 MONDO:0006639 False adrenocortical carcinoma, hereditary adrenal cortex carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008735 MONDO:0008733 False adrenocortical unresponsiveness to ACTH with postreceptor defect familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008735 MONDO:0008733 False adrenocortical unresponsiveness to ACTH with postreceptor defect familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008736 MONDO:0100262 False peroxisome biogenesis disorder 2B peroxisome biogenesis disorder due to PEX5 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008737 MONDO:0014452 False congenital afibrinogenemia familial dysfibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008738 MONDO:0003847 False aganglionosis, total intestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008737 MONDO:0014452 False congenital afibrinogenemia familial dysfibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008738 MONDO:0003847 False aganglionosis, total intestinal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008739 MONDO:0003847 False agenesis of cerebral white matter hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008740 MONDO:0003847 False agnathia-otocephaly complex hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008740 MONDO:0003847 False agnathia-otocephaly complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008741 MONDO:0002254 False PAGOD syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008745 MONDO:0040653 False oculocutaneous albinism type 1A autosomal recessive ocular albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008748 MONDO:0016501 False Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome with pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008751 MONDO:0002525 False corticosterone methyloxidase type 1 deficiency inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008751 MONDO:0002525 False corticosterone methyloxidase type 1 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008751 MONDO:0018541 False corticosterone methyloxidase type 1 deficiency familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008751 MONDO:0045012 False corticosterone methyloxidase type 1 deficiency steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008756 MONDO:0003847 False alopecia - intellectual disability syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0002254 False mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008758 MONDO:0015653 False mitochondrial DNA depletion syndrome 4a monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008756 MONDO:0003847 False alopecia - intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008758 MONDO:0002254 False mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008758 MONDO:0015653 False mitochondrial DNA depletion syndrome 4a monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008758 MONDO:0100033 False mitochondrial DNA depletion syndrome 4a metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0004069 False oxoglutaricaciduria inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008759 MONDO:0015653 False oxoglutaricaciduria monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008759 MONDO:0004069 False oxoglutaricaciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008759 MONDO:0015653 False oxoglutaricaciduria monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008759 MONDO:0100033 False oxoglutaricaciduria metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008764 MONDO:0100453 False Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008765 MONDO:0100368 False Leber congenital amaurosis 2 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008767 MONDO:0019262 False neuronal ceroid lipofuscinosis 3 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008768 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 6B (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008769 MONDO:0015674 False neuronal ceroid lipofuscinosis 2 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008769 MONDO:0019262 False neuronal ceroid lipofuscinosis 2 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008767 MONDO:0019262 False neuronal ceroid lipofuscinosis 3 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008768 MONDO:0019260 False ceroid lipofuscinosis, neuronal, 6B (Kufs type) adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008769 MONDO:0015674 False neuronal ceroid lipofuscinosis 2 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008769 MONDO:0019262 False neuronal ceroid lipofuscinosis 2 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008770 MONDO:0015047 False amelogenesis imperfecta type 1C amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008771 MONDO:0021147 False amelogenesis imperfecta type 1G disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008772 MONDO:0015048 False amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008773 MONDO:0003847 False amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008775 MONDO:0003847 False Amobarbital, deficient N-hydroxylation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008776 MONDO:0003847 False amyloidosis of gingiva and conjunctiva, with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008777 MONDO:0004686 False gelatinous drop-like corneal dystrophy lattice corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008777 MONDO:0004686 False gelatinous drop-like corneal dystrophy lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008778 MONDO:0003847 False amyloidosis, cutaneous bullous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008779 MONDO:0003847 False arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008779 MONDO:0005395 False arthrogryposis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008779 MONDO:0003847 False arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008779 MONDO:0005395 False arthrogryposis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008780 MONDO:0017593 False amyotrophic lateral sclerosis type 2, juvenile juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008780 MONDO:0100227 False amyotrophic lateral sclerosis type 2, juvenile ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008781 MONDO:0017593 False juvenile amyotrophic lateral sclerosis with dementia juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22997,11 +23032,11 @@ MONDO:0008790 MONDO:0000105 False anemia, nonspherocytic hemolytic, possibly due MONDO:0008793 MONDO:0003847 False angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008794 MONDO:0006527 False anhidrosis, familial generalized, with abnormal or absent sweat glands anhidrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008794 MONDO:0100118 False anhidrosis, familial generalized, with abnormal or absent sweat glands hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008795 MONDO:0011119 False aniridia-cerebellar ataxia-intellectual disability syndrome iridogoniodysgenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008795 MONDO:0011119 False aniridia-cerebellar ataxia-intellectual disability syndrome iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008796 MONDO:0002254 False aniridia-renal agenesis-psychomotor retardation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008796 MONDO:0003847 False aniridia-renal agenesis-psychomotor retardation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008796 MONDO:0024458 False aniridia-renal agenesis-psychomotor retardation syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008797 MONDO:0003847 False anodontia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008797 MONDO:0003847 False anodontia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008799 MONDO:0015160 False anophthalmia/microphthalmia-esophageal atresia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008800 MONDO:0015160 False microphthalmia with limb anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008801 MONDO:0003847 False anosmia for isobutyric acid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23012,54 +23047,54 @@ MONDO:0008806 MONDO:0003847 False Aphalangy-hemivertebrae-urogenital-intestinal MONDO:0008808 MONDO:0002254 False aplasia cutis congenita-intestinal lymphangiectasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008808 MONDO:0005020 False aplasia cutis congenita-intestinal lymphangiectasia syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008809 MONDO:0015358 False polyneuropathy-hand defect syndrome hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008809 MONDO:0015364 False polyneuropathy-hand defect syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008810 MONDO:0015905 False familial apolipoprotein C-II deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008809 MONDO:0015364 False polyneuropathy-hand defect syndrome hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008810 MONDO:0015905 False familial apolipoprotein C-II deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008811 MONDO:0005560 False XK aprosencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008814 MONDO:0800153 False hyperargininemia urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008815 MONDO:0037871 False argininosuccinic aciduria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008815 MONDO:0037871 False argininosuccinic aciduria amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008815 MONDO:0800153 False argininosuccinic aciduria urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008816 MONDO:0000115 False Chiari malformation type II Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008816 MONDO:0017069 False Chiari malformation type II spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008816 MONDO:0017069 False Chiari malformation type II spina bifida cystica UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008818 MONDO:0005385 False arterial tortuosity syndrome vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008818 MONDO:0023603 False arterial tortuosity syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008818 MONDO:0100237 False arterial tortuosity syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008818 MONDO:0100237 False arterial tortuosity syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008819 MONDO:0003847 False arteriosclerosis, severe juvenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008821 MONDO:0003847 False arthrogryposis, distal, with intellectual disability and characteristic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008824 MONDO:0015161 False fetal akinesia deformation sequence multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008824 MONDO:0015168 False fetal akinesia deformation sequence arthrogryposis multiplex congenita UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008824 MONDO:0015168 False fetal akinesia deformation sequence arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008824 MONDO:0015929 False fetal akinesia deformation sequence thoracic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008827 MONDO:0016761 False progressive pseudorheumatoid arthropathy of childhood spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008828 MONDO:0005554 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008827 MONDO:0016761 False progressive pseudorheumatoid arthropathy of childhood spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008828 MONDO:0005554 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008828 MONDO:0023603 False camptodactyly-arthropathy-coxa vara-pericarditis syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008829 MONDO:0019175 False chylous ascites primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008834 MONDO:0003847 False asthma, nasal polyps, and aspirin intolerance hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008829 MONDO:0019175 False chylous ascites primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008834 MONDO:0003847 False asthma, nasal polyps, and aspirin intolerance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008835 MONDO:0003847 False asthma, short stature, and elevated IgA hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008836 MONDO:0003847 False ataxia with myoclonic epilepsy and presenile dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008837 MONDO:0003847 False ataxia, deafness, and cardiomyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008839 MONDO:0003847 False ataxia-microcephaly-cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008840 MONDO:0015131 False ataxia telangiectasia combined immunodeficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008841 MONDO:0008840 False ataxia-telangiectasia with generalized skin pigmentation and early death ataxia telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008842 MONDO:0011457 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008840 MONDO:0015131 False ataxia telangiectasia combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008841 MONDO:0008840 False ataxia-telangiectasia with generalized skin pigmentation and early death ataxia telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008842 MONDO:0011457 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ataxia-telangiectasia-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008842 MONDO:0021190 False ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008843 MONDO:0003847 False atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008844 MONDO:0003847 False Athrombia, essential hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008845 MONDO:0003847 False atonic-astatic syndrome of Foerster hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008848 MONDO:0003847 False atrioventricular dissociation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008850 MONDO:0015161 False Cooper-Jabs syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008853 MONDO:0001334 False Barber-Say syndrome hypertrichosis of eyelid UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008850 MONDO:0015161 False Cooper-Jabs syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008853 MONDO:0001334 False Barber-Say syndrome hypertrichosis of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008853 MONDO:0020159 False Barber-Say syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008856 MONDO:0019146 False immunodeficiency 27A inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008858 MONDO:0800181 False Behr syndrome OPA1-related optic atrophy with or without extraocular features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008859 MONDO:0003847 False berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008860 MONDO:0003847 False beta-aminoisobutyric acid, urinary excretion of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008861 MONDO:0004739 False 3-methylcrotonyl-CoA carboxylase 1 deficiency urea cycle disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008861 MONDO:0004739 False 3-methylcrotonyl-CoA carboxylase 1 deficiency urea cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008865 MONDO:0016420 False Bietti crystalline corneoretinal dystrophy familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0000110 False bifid nose, autosomal recessive bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0006025 False bifid nose, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008866 MONDO:0018751 False bifid nose, autosomal recessive hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008867 MONDO:0006322 False biliary atresia non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008867 MONDO:0006322 False biliary atresia non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008868 MONDO:0003847 False biliary malformation with renal tubular insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008870 MONDO:0018230 False bird headed-dwarfism, Montreal type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008870 MONDO:0018230 False bird headed-dwarfism, Montreal type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0000060 False microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0016994 False microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism types I and III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008871 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism type I Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23070,70 +23105,70 @@ MONDO:0008873 MONDO:0000060 False microcephalic osteodysplastic primordial dwarf MONDO:0008873 MONDO:0016994 False microcephalic osteodysplastic primordial dwarfism, type 3 microcephalic osteodysplastic primordial dwarfism types I and III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008873 MONDO:0100500 False microcephalic osteodysplastic primordial dwarfism, type 3 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008875 MONDO:0002254 False blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008876 MONDO:0019040 False Bloom syndrome chromosomal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008876 MONDO:0019040 False Bloom syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008876 MONDO:0021147 False Bloom syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008878 MONDO:0005516 False bone dysplasia, lethal Holmgren type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008880 MONDO:0003847 False Bowen syndrome of multiple malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008882 MONDO:0017427 False congenital bowing of long bones congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008882 MONDO:0019698 False congenital bowing of long bones bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008882 MONDO:0017427 False congenital bowing of long bones congenital deformities of limbs UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008882 MONDO:0019698 False congenital bowing of long bones bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008883 MONDO:0003847 False brachydactyly, type A2, with microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008885 MONDO:0003847 False Elsahy-Waters syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008886 MONDO:0003847 False Sabinas brittle hair syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008885 MONDO:0003847 False Elsahy-Waters syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008886 MONDO:0003847 False Sabinas brittle hair syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008887 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 1 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008888 MONDO:0005087 False Williams-Campbell syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008889 MONDO:0021166 False thromboangiitis obliterans inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008890 MONDO:0002782 False progressive bulbar palsy cranial nerve palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008890 MONDO:0005560 False progressive bulbar palsy brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008890 MONDO:0006496 False progressive bulbar palsy palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008890 MONDO:0008891 False progressive bulbar palsy riboflavin transporter deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008895 MONDO:0005385 False hereditary arterial and articular multiple calcification syndrome vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008889 MONDO:0021166 False thromboangiitis obliterans inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008890 MONDO:0002782 False progressive bulbar palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008890 MONDO:0005560 False progressive bulbar palsy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008890 MONDO:0006496 False progressive bulbar palsy palsy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008890 MONDO:0008891 False progressive bulbar palsy riboflavin transporter deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008895 MONDO:0005385 False hereditary arterial and articular multiple calcification syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008896 MONDO:0002254 False campomelia, Cumming type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008896 MONDO:0015160 False campomelia, Cumming type multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008896 MONDO:0019313 False campomelia, Cumming type lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008896 MONDO:0019313 False campomelia, Cumming type lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008898 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 1 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008899 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 2 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008900 MONDO:0006025 False camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008902 MONDO:0003847 False camptodactyly-ichthyosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008904 MONDO:0002254 False camptomelic syndrome, long-limb type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008908 MONDO:0005267 False MGAT2-congenital disorder of glycosylation heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008908 MONDO:0005267 False MGAT2-congenital disorder of glycosylation heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008909 MONDO:0003847 False congenital disorder of glycosylation, type i/IIx hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008911 MONDO:0010771 False cardiac lipidosis, familial histiocytoid cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008911 MONDO:0010771 False cardiac lipidosis, familial histiocytoid cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008912 MONDO:0003847 False cardiac septal defects with coarctation of the aorta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008913 MONDO:0021147 False cardiac valvular defect, developmental disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008914 MONDO:0003847 False cardioauditory syndrome of Sanchez Cascos hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008915 MONDO:0003150 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome male reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008915 MONDO:0005151 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008915 MONDO:0005267 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008915 MONDO:0003150 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008915 MONDO:0005151 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008915 MONDO:0005267 False dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008916 MONDO:0003847 False cardiomyopathy associated with myopathy and sudden death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008917 MONDO:0005453 False heart defects-limb shortening syndrome congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008917 MONDO:0006025 False heart defects-limb shortening syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008918 MONDO:0017713 False carnitine-acylcarnitine translocase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008919 MONDO:0017713 False systemic primary carnitine deficiency disease disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008918 MONDO:0017713 False carnitine-acylcarnitine translocase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008919 MONDO:0017713 False systemic primary carnitine deficiency disease disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008920 MONDO:0003847 False carnitine deficiency, myopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008921 MONDO:0009351 False carnosinemia homocarnosinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008922 MONDO:0005267 False Sengers syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008923 MONDO:0006025 False autosomal recessive palmoplantar keratoderma and congenital alopecia autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008921 MONDO:0009351 False carnosinemia homocarnosinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008922 MONDO:0005267 False Sengers syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008923 MONDO:0006025 False autosomal recessive palmoplantar keratoderma and congenital alopecia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008924 MONDO:0002254 False congenital cataract-ichthyosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008924 MONDO:0015947 False congenital cataract-ichthyosis syndrome inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008925 MONDO:0011060 False cataract 46 juvenile-onset early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008926 MONDO:0021190 False COFS syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008927 MONDO:0002254 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008925 MONDO:0011060 False cataract 46 juvenile-onset early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008926 MONDO:0021190 False COFS syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008927 MONDO:0002254 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008927 MONDO:0024458 False colobomatous optic disc-macular atrophy-chorioretinopathy syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008930 MONDO:0020573 False celiac disease, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008931 MONDO:0800066 False Cenani-Lenz syndactyly syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008932 MONDO:0003847 False premature centromere division hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008933 MONDO:0003847 False cephalin lipidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008935 MONDO:0024237 False cerebellar ataxia-hypogonadism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008935 MONDO:0024237 False cerebellar ataxia-hypogonadism syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008936 MONDO:0003847 False cerebellar ataxia and neurosensory deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008937 MONDO:0003847 False cerebellar ataxia, benign, with thermoanalgesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008939 MONDO:0002320 False isolated cerebellar hypoplasia/agenesis congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008939 MONDO:0002320 False isolated cerebellar hypoplasia/agenesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008939 MONDO:0021147 False isolated cerebellar hypoplasia/agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008941 MONDO:0002254 False hepatic fibrosis-renal cysts-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008945 MONDO:0000114 False myoclonic cerebellar dyssynergia cerebelloparenchymal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008945 MONDO:0024237 False myoclonic cerebellar dyssynergia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008946 MONDO:0003847 False cerebral angiopathy, dysphoric hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0004884 False cerebrotendinous xanthomatosis eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008948 MONDO:0022687 False cerebrotendinous xanthomatosis cerebellar degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008948 MONDO:0004884 False cerebrotendinous xanthomatosis eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008948 MONDO:0022687 False cerebrotendinous xanthomatosis cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008948 MONDO:0045016 False cerebrotendinous xanthomatosis cholesterol catabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008949 MONDO:0003847 False cerebral malformation, seizures, hypertrichosis, and overlapping fingers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008950 MONDO:0024237 False cerebral sclerosis similar to Pelizaeus-Merzbacher disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23144,44 +23179,44 @@ MONDO:0008957 MONDO:0003847 False cervical vertebrae, agenesis of hereditary dis MONDO:0008959 MONDO:0003847 False CHAND syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008960 MONDO:0002254 False Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008960 MONDO:0003847 False Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008961 MONDO:0012014 False Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008962 MONDO:0005071 False Griscelli syndrome type 1 nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0002320 False Chediak-Higashi syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008963 MONDO:0015134 False Chediak-Higashi syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008961 MONDO:0012014 False Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0008962 MONDO:0005071 False Griscelli syndrome type 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008963 MONDO:0002320 False Chediak-Higashi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008963 MONDO:0015134 False Chediak-Higashi syndrome constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008964 MONDO:0045032 False congenital secretory chloride diarrhea 1 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008965 MONDO:0005267 False CHARGE syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008965 MONDO:0005267 False CHARGE syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008965 MONDO:0015160 False CHARGE syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008965 MONDO:0021635 False CHARGE syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008966 MONDO:0005154 False Aagenaes syndrome liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008967 MONDO:0002320 False congenital bile acid synthesis defect 4 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008967 MONDO:0013681 False congenital bile acid synthesis defect 4 alpha-methylacyl-CoA racemase deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008966 MONDO:0005154 False Aagenaes syndrome liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008967 MONDO:0002320 False congenital bile acid synthesis defect 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008967 MONDO:0013681 False congenital bile acid synthesis defect 4 alpha-methylacyl-CoA racemase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008968 MONDO:0003847 False cholestasis with gallstone, ataxia, and visual disturbance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008969 MONDO:0003847 False cholesterol pneumonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008971 MONDO:0009943 False chondrodysplasia calcificans Metaphysealis Pyle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008972 MONDO:0004884 False rhizomelic chondrodysplasia punctata type 1 eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008972 MONDO:0015905 False rhizomelic chondrodysplasia punctata type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008971 MONDO:0009943 False chondrodysplasia calcificans Metaphysealis Pyle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008972 MONDO:0004884 False rhizomelic chondrodysplasia punctata type 1 eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008972 MONDO:0015905 False rhizomelic chondrodysplasia punctata type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008972 MONDO:0100272 False rhizomelic chondrodysplasia punctata type 1 peroxisome biogenesis disorder due to PEX7 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008974 MONDO:0021106 False Greenberg dysplasia laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008975 MONDO:0016761 False otospondylomegaepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008974 MONDO:0021106 False Greenberg dysplasia laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008975 MONDO:0016761 False otospondylomegaepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008976 MONDO:0003847 False chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008977 MONDO:0021581 False chondrosarcoma connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008977 MONDO:0023603 False chondrosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008977 MONDO:0023603 False chondrosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008979 MONDO:0001595 False chorea, benign familial choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008981 MONDO:0002254 False infantile choroidocerebral calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008982 MONDO:0001898 False central areolar choroidal dystrophy optic choroid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008982 MONDO:0003847 False central areolar choroidal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008983 MONDO:0003847 False chromosomal instability with tissue-specific radiosensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008984 MONDO:0016575 False ciliary discoordination due to random ciliary orientation primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008985 MONDO:0016575 False ciliary dyskinesia with transposition of ciliary microtubules primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008984 MONDO:0016575 False ciliary discoordination due to random ciliary orientation primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0008985 MONDO:0016575 False ciliary dyskinesia with transposition of ciliary microtubules primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008986 MONDO:0003847 False circumvallate placenta syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008988 MONDO:0800153 False citrullinemia type I urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008989 MONDO:0003847 False citrulline transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008990 MONDO:0016060 False cleft larynx, posterior laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008993 MONDO:0021147 False cleft palate-stapes fixation-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008994 MONDO:0005516 False cleidocranial dysplasia, recessive form osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0000508 False Cohen syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008999 MONDO:0002320 False Cohen syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009000 MONDO:0021154 False familial reactive perforating collagenosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008999 MONDO:0000508 False Cohen syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008999 MONDO:0002320 False Cohen syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009000 MONDO:0021154 False familial reactive perforating collagenosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009001 MONDO:0020242 False macular coloboma-cleft palate-hallux valgus syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009002 MONDO:0001476 False coloboma, ocular, autosomal recessive coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009002 MONDO:0003847 False coloboma, ocular, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23192,66 +23227,66 @@ MONDO:0009006 MONDO:0000015 False complement component 2 deficiency classic comp MONDO:0009006 MONDO:0015699 False complement component 2 deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009007 MONDO:0021147 False Jalili syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009009 MONDO:0002242 False hypoplasminogenemia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009009 MONDO:0021181 False hypoplasminogenemia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009009 MONDO:0021181 False hypoplasminogenemia inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009012 MONDO:0002320 False multiple pterygium-malignant hyperthermia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009013 MONDO:0003847 False convulsive disorder, familial, with prenatal or early onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009016 MONDO:0002261 False band keratopathy keratopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009016 MONDO:0018102 False band keratopathy corneal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009016 MONDO:0002261 False band keratopathy keratopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009016 MONDO:0018102 False band keratopathy corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009017 MONDO:0003847 False corneal degeneration, band-shaped spheroid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009018 MONDO:0020214 False central cloudy dystrophy of François posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009020 MONDO:0020242 False macular corneal dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009018 MONDO:0020214 False central cloudy dystrophy of François posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009020 MONDO:0020242 False macular corneal dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009021 MONDO:0015160 False Toriello-Carey syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009022 MONDO:0002320 False corpus callosum, agenesis of congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009022 MONDO:0003847 False corpus callosum, agenesis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009022 MONDO:0002320 False corpus callosum, agenesis of congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009022 MONDO:0003847 False corpus callosum, agenesis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009024 MONDO:0002254 False cortical blindness-intellectual disability-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009024 MONDO:0024458 False cortical blindness-intellectual disability-polydactyly syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009025 MONDO:0005495 False apparent mineralocorticoid excess adrenal gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009025 MONDO:0015905 False apparent mineralocorticoid excess syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009025 MONDO:0005495 False apparent mineralocorticoid excess adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009025 MONDO:0015905 False apparent mineralocorticoid excess syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009027 MONDO:0003847 False cramps, familial adolescent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009028 MONDO:0003847 False Crane-Heise syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009029 MONDO:0003847 False cranial nerves, congenital paresis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009030 MONDO:0003847 False cranial nerves, recurrent paresis of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009031 MONDO:0002185 False craniodiaphyseal dysplasia hyperostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009031 MONDO:0015465 False craniodiaphyseal dysplasia craniometaphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009031 MONDO:0002185 False craniodiaphyseal dysplasia hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009031 MONDO:0015465 False craniodiaphyseal dysplasia craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009031 MONDO:0021147 False craniodiaphyseal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0011679 False cranioectodermal dysplasia craniosynostosis syndrome, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009032 MONDO:0015962 False cranioectodermal dysplasia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0011679 False cranioectodermal dysplasia craniosynostosis syndrome, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009032 MONDO:0015962 False cranioectodermal dysplasia inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009034 MONDO:0021147 False craniofacial dyssynostosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009037 MONDO:0003847 False craniosynostosis with anomalies of the cranial base and digits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009038 MONDO:0015338 False craniosynostosis-fibular aplasia syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009040 MONDO:0003847 False craniosynostosis-intellectual disability syndrome of 51N and Gettig hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009041 MONDO:0003847 False craniosynostosis-intellectual disability-clefting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009044 MONDO:0002254 False Crigler-Najjar syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009044 MONDO:0002254 False Crigler-Najjar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009045 MONDO:0002254 False cataract-nephropathy-encephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009047 MONDO:0003150 False cryptorchidism male reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009047 MONDO:0003847 False cryptorchidism hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009047 MONDO:0003150 False cryptorchidism male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009047 MONDO:0003847 False cryptorchidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009048 MONDO:0003847 False curved nail of fourth toe hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009049 MONDO:0020529 False Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009050 MONDO:0021227 False Cushing disease due to pituitary adenoma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009051 MONDO:0005265 False cutaneous photosensitivity-lethal colitis syndrome inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009053 MONDO:0015327 False ALDH18A1-related de Barsy syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009049 MONDO:0020529 False Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009050 MONDO:0021227 False Cushing disease due to pituitary adenoma adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009051 MONDO:0005265 False cutaneous photosensitivity-lethal colitis syndrome inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009053 MONDO:0015327 False ALDH18A1-related de Barsy syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009053 MONDO:0100126 False ALDH18A1-related de Barsy syndrome P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009054 MONDO:0100237 False autosomal recessive cutis laxa type 2, classic type inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009056 MONDO:0003847 False cutis verticis gyrata and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009057 MONDO:0003847 False cyanosis and hepatic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009059 MONDO:0003847 False cysteine Peptiduria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009060 MONDO:0003847 False cystic disease of lung hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009061 MONDO:0005087 False cystic fibrosis respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009061 MONDO:0005087 False cystic fibrosis respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009062 MONDO:0002254 False cystic fibrosis-gastritis-megaloblastic anemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009062 MONDO:0003847 False cystic fibrosis-gastritis-megaloblastic anemia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009064 MONDO:0005328 False ocular cystinosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009064 MONDO:0019216 False ocular cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009066 MONDO:0019216 False juvenile nephropathic cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009066 MONDO:0100151 False juvenile nephropathic cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009067 MONDO:0002254 False cystinuria syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009064 MONDO:0019216 False ocular cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009066 MONDO:0019216 False juvenile nephropathic cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009066 MONDO:0100151 False juvenile nephropathic cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009067 MONDO:0002254 False cystinuria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009068 MONDO:0000066 False cytochrome-c oxidase deficiency disease mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009069 MONDO:0002320 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009069 MONDO:0009723 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Leigh syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009069 MONDO:0002320 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009069 MONDO:0009723 False congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009070 MONDO:0800152 False D-glyceric aciduria disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009072 MONDO:0020134 False Dandy-Walker syndrome cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009074 MONDO:0002320 False facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009077 MONDO:0003847 False deafness, congenital, and familial myoclonic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009080 MONDO:0018230 False split hand-foot malformation 1 with sensorineural hearing loss skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009080 MONDO:0018230 False split hand-foot malformation 1 with sensorineural hearing loss skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009081 MONDO:0019290 False deafness, congenital, with total albinism hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009081 MONDO:0100118 False deafness, congenital, with total albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009083 MONDO:0003847 False conductive deafness-malformed external ear syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23260,23 +23295,23 @@ MONDO:0009086 MONDO:0003847 False deafness-small bowel diverticulosis-neuropathy MONDO:0009087 MONDO:0003847 False deafness, neural, congenital moderate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009088 MONDO:0003847 False deafness, neural, with atypical atopic dermatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009089 MONDO:0021147 False deafness-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009090 MONDO:0010779 False hearing loss, sensorineural, autosomal-mitochondrial type mitochondrial non-syndromic sensorineural hearing loss UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009092 MONDO:0019707 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009090 MONDO:0010779 False hearing loss, sensorineural, autosomal-mitochondrial type mitochondrial non-syndromic sensorineural hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009092 MONDO:0019707 False polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009094 MONDO:0002254 False dermochondrocorneal dystrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009097 MONDO:0006025 False persistent hyperplastic primary vitreous, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009098 MONDO:0003847 False dextrocardia with unusual facies and microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009099 MONDO:0002254 False nephrogenic diabetes insipidus-intracranial calcification syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009102 MONDO:0003847 False diaminopentanuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009104 MONDO:0015160 False Donnai-Barrow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009105 MONDO:0005020 False trichohepatoenteric syndrome intestinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009106 MONDO:0002320 False diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009107 MONDO:0000226 False diastrophic dysplasia mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009107 MONDO:0019052 False diastrophic dysplasia inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009105 MONDO:0005020 False trichohepatoenteric syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009106 MONDO:0002320 False diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009107 MONDO:0000226 False diastrophic dysplasia mineral metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009107 MONDO:0019052 False diastrophic dysplasia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009108 MONDO:0019216 False hyperdibasic aminoaciduria type 1 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009112 MONDO:0100273 False rhizomelic chondrodysplasia punctata type 2 glyceronephosphate O-acyltransferase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009113 MONDO:0003689 False hemolytic anemia due to diphosphoglycerate mutase deficiency familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009113 MONDO:0020585 False hemolytic anemia due to diphosphoglycerate mutase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009114 MONDO:0004905 False congenital sucrase-isomaltase deficiency intestinal disaccharidase deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009113 MONDO:0003689 False hemolytic anemia due to diphosphoglycerate mutase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009113 MONDO:0020585 False hemolytic anemia due to diphosphoglycerate mutase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009114 MONDO:0004905 False congenital sucrase-isomaltase deficiency intestinal disaccharidase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009118 MONDO:0003847 False disseminated sclerosis with narcolepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009119 MONDO:0004335 False diverticulosis, small-intestinal digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009120 MONDO:0002254 False diverticulosis of bowel, hernia, and retinal detachment syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23286,32 +23321,32 @@ MONDO:0009126 MONDO:0021147 False duodenal atresia disorder of development or mo MONDO:0009127 MONDO:0003847 False dwarfism, low-birth-weight type, with unresponsiveness to growth hormone hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009128 MONDO:0003847 False dwarfism, intellectual disability, and eye abnormality hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009129 MONDO:0003847 False dwarfism, proportionate, with hip dislocation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009130 MONDO:0002254 False Dyggve-Melchior-Clausen disease syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009130 MONDO:0016761 False Dyggve-Melchior-Clausen disease spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009131 MONDO:0003847 False Riley-Day syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009130 MONDO:0002254 False Dyggve-Melchior-Clausen disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009130 MONDO:0016761 False Dyggve-Melchior-Clausen disease spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009131 MONDO:0003847 False Riley-Day syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009131 MONDO:0021635 False Riley-Day syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009132 MONDO:0003847 False dysautonomia-like disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009134 MONDO:0000577 False congenital dyserythropoietic anemia type 2 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009137 MONDO:0003847 False dysmyelination with jaundice hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009139 MONDO:0016761 False dyssegmental dysplasia, Rolland-Desbuquois type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009140 MONDO:0016151 False Silverman-Handmaker type dyssegmental dysplasia qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009140 MONDO:0016761 False Silverman-Handmaker type dyssegmental dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009140 MONDO:0016151 False Silverman-Handmaker type dyssegmental dysplasia qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009140 MONDO:0016761 False Silverman-Handmaker type dyssegmental dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009142 MONDO:0003847 False dystonia with Ringbinden hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009145 MONDO:0006025 False SchC6pf-Schulz-Passarge syndrome autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009145 MONDO:0006025 False SchC6pf-Schulz-Passarge syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009145 MONDO:0100358 False SchC6pf-Schulz-Passarge syndrome ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009147 MONDO:0016619 False ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive autosomal recessive hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009148 MONDO:0007124 False Rosselli-Gulienetti syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009148 MONDO:0007124 False Rosselli-Gulienetti syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009150 MONDO:0005151 False hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009153 MONDO:0015998 False ectopia lentis et pupillae isolated ectopia lentis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009155 MONDO:0002320 False EEM syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009155 MONDO:0019054 False EEM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009153 MONDO:0015998 False ectopia lentis et pupillae isolated ectopia lentis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009155 MONDO:0002320 False EEM syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009155 MONDO:0019054 False EEM syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009155 MONDO:0020242 False EEM syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009156 MONDO:0002254 False ectrodactyly-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009158 MONDO:0000009 False Ehlers-Danlos syndrome, fibronectinemic type inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009158 MONDO:0020066 False Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009158 MONDO:0000009 False Ehlers-Danlos syndrome, fibronectinemic type inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009158 MONDO:0020066 False Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009158 MONDO:0021181 False Ehlers-Danlos syndrome, fibronectinemic type inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009159 MONDO:0005267 False Ehlers-Danlos syndrome, cardiac valvular type heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009162 MONDO:0005267 False Ellis-van Creveld syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009159 MONDO:0005267 False Ehlers-Danlos syndrome, cardiac valvular type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009162 MONDO:0005267 False Ellis-van Creveld syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009163 MONDO:0003847 False encephalomalacia, multilocular hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009164 MONDO:0100198 False encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009167 MONDO:0002254 False Bonnemann-Meinecke-Reich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23319,22 +23354,22 @@ MONDO:0009167 MONDO:0100198 False Bonnemann-Meinecke-Reich syndrome Mendelian en MONDO:0009168 MONDO:0021147 False Fowler syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009170 MONDO:0003847 False endocardial fibroelastosis and coarctation of abdominal aorta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009171 MONDO:0003847 False endothelial dystrophy, congenital hereditary, with nail hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009172 MONDO:0003847 False enterocolitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009174 MONDO:0003847 False protein-losing enteropathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009175 MONDO:0004830 False eosinophilic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009172 MONDO:0003847 False enterocolitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009174 MONDO:0003847 False protein-losing enteropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009175 MONDO:0004830 False eosinophilic fasciitis fasciitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009176 MONDO:0100118 False epidermodysplasia verruciformis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009178 MONDO:0006543 False epidermolysis bullosa dystrophica Neurotrophica epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009181 MONDO:0015152 False epidermolysis bullosa simplex 5B, with muscular dystrophy autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009181 MONDO:0015152 False epidermolysis bullosa simplex 5B, with muscular dystrophy autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009184 MONDO:0003847 False epidermolysis bullosa with diaphragmatic hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009186 MONDO:0003847 False epilepsy, photogenic, with spastic diplegia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009187 MONDO:0100029 False celiac disease-epilepsy-cerebral calcification syndrome antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0000226 False multiple epiphyseal dysplasia type 4 mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009189 MONDO:0019052 False multiple epiphyseal dysplasia type 4 inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009189 MONDO:0019052 False multiple epiphyseal dysplasia type 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009190 MONDO:0003847 False epiphyseal dysplasia of femoral head, myopia, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009191 MONDO:0800063 False Lowry-Wood syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009192 MONDO:0016761 False Wolcott-Rallison syndrome spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009192 MONDO:0016761 False Wolcott-Rallison syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009193 MONDO:0003847 False epithelial squamous dysplasia, keratinizing desquamative, of urinary tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009194 MONDO:0005108 False immunodeficiency 32B viral infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009194 MONDO:0005108 False immunodeficiency 32B viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009194 MONDO:0021674 False immunodeficiency 32B post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009195 MONDO:0003847 False erythema of acral regions hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009196 MONDO:0002254 False ermine phenotype syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23349,32 +23384,32 @@ MONDO:0009206 MONDO:0021181 False factor V and factor VIII, combined deficiency MONDO:0009207 MONDO:0018175 False factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009208 MONDO:0003847 False faciothoracogenital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009209 MONDO:0006025 False autosomal recessive faciodigitogenital syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009209 MONDO:0021005 False autosomal recessive faciodigitogenital syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009210 MONDO:0002243 False congenital factor V deficiency hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009210 MONDO:0020586 False congenital factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009209 MONDO:0021005 False autosomal recessive faciodigitogenital syndrome faciodigitogenital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009210 MONDO:0002243 False congenital factor V deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009210 MONDO:0020586 False congenital factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009211 MONDO:0002244 False congenital factor VII deficiency factor VII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009212 MONDO:0002247 False congenital factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009212 MONDO:0002247 False congenital factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009215 MONDO:0019713 False Fanconi anemia complementation group A non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009217 MONDO:0003847 False Fanconi-like syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009217 MONDO:0003847 False Fanconi-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009218 MONDO:0100524 False Farber lipogranulomatosis ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009218 MONDO:0800460 False Farber lipogranulomatosis ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009219 MONDO:0008492 False fascial dystrophy, congenital stiff skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009219 MONDO:0008492 False fascial dystrophy, congenital stiff skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009220 MONDO:0004790 False visceral steatosis, congenital fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009221 MONDO:0019713 False femur-fibula-ulna complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009222 MONDO:0019713 False Gollop-Wolfgang complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009221 MONDO:0019713 False femur-fibula-ulna complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009222 MONDO:0019713 False Gollop-Wolfgang complex non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009225 MONDO:0003847 False fever, familial lifelong persistent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009228 MONDO:0002254 False gingival fibromatosis-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009230 MONDO:0003847 False fibrosclerosis, multifocal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009230 MONDO:0018848 False fibrosclerosis, multifocal IgG4-related retroperitoneal fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009232 MONDO:0019713 False Fuhrmann syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009234 MONDO:0002242 False congenital high-molecular-weight kininogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009234 MONDO:0002243 False congenital high-molecular-weight kininogen deficiency hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009232 MONDO:0019713 False Fuhrmann syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009234 MONDO:0002242 False congenital high-molecular-weight kininogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009234 MONDO:0002243 False congenital high-molecular-weight kininogen deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009236 MONDO:0016420 False Kandori fleck retina familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009237 MONDO:0003847 False focal epithelial hyperplasia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009237 MONDO:0005043 False focal epithelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009238 MONDO:0001700 False hereditary folate malabsorption megaloblastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009238 MONDO:0020598 False hereditary folate malabsorption malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009240 MONDO:0001700 False formiminoglutamic aciduria megaloblastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009237 MONDO:0003847 False focal epithelial hyperplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009237 MONDO:0005043 False focal epithelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009238 MONDO:0001700 False hereditary folate malabsorption megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009238 MONDO:0020598 False hereditary folate malabsorption malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009240 MONDO:0001700 False formiminoglutamic aciduria megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009242 MONDO:0023603 False brittle cornea syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009243 MONDO:0003847 False Fraser-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009244 MONDO:0003847 False Freesia Flowers, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23383,72 +23418,72 @@ MONDO:0009247 MONDO:0002254 False frontofacionasal dysplasia syndromic disease U MONDO:0009248 MONDO:0003847 False fructose and galactose intolerance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009249 MONDO:0800152 False hereditary fructose intolerance disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009252 MONDO:0800152 False essential fructosuria disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009253 MONDO:0002254 False Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009253 MONDO:0002254 False Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009255 MONDO:0800152 False galactokinase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009256 MONDO:0003847 False galactorrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009256 MONDO:0003847 False galactorrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009258 MONDO:0800152 False classic galactosemia disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009259 MONDO:0040566 False gamma-glutamylcysteine synthetase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009260 MONDO:0015905 False GM1 gangliosidosis type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009260 MONDO:0015905 False GM1 gangliosidosis type 1 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009264 MONDO:0100298 False gastroschisis abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009270 MONDO:0005151 False genito-palato-cardiac syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009271 MONDO:0100237 False geroderma osteodysplastica inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009271 MONDO:0100237 False geroderma osteodysplastica inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009271 MONDO:0800064 False geroderma osteodysplastica osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009272 MONDO:0002254 False German syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009272 MONDO:0016009 False German syndrome fetal trimethadione syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009272 MONDO:0016009 False German syndrome fetal trimethadione syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009273 MONDO:0016785 False hydatidiform mole, recurrent, 1 complete hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009273 MONDO:0018944 False hydatidiform mole, recurrent, 1 gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009275 MONDO:0006507 False neonatal hemochromatosis hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009276 MONDO:0002254 False Bernard-Soulier syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009275 MONDO:0006507 False neonatal hemochromatosis hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009276 MONDO:0002254 False Bernard-Soulier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009277 MONDO:0800472 False glaucoma 3A CYP1B1-related glaucoma with or without anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009280 MONDO:0003847 False monosodium glutamate sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009281 MONDO:0000129 False glutaryl-CoA dehydrogenase deficiency glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009281 MONDO:0005071 False glutaryl-CoA dehydrogenase deficiency nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009281 MONDO:0005071 False glutaryl-CoA dehydrogenase deficiency nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009282 MONDO:0000129 False multiple acyl-CoA dehydrogenase deficiency glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009282 MONDO:0004069 False multiple acyl-CoA dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009282 MONDO:0024573 False multiple acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009282 MONDO:0004069 False multiple acyl-CoA dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009282 MONDO:0024573 False multiple acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009283 MONDO:0000129 False glutaric acidemia type 3 glutaric aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009283 MONDO:0000688 False glutaric acidemia type 3 inborn organic aciduria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009283 MONDO:0000688 False glutaric acidemia type 3 inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009285 MONDO:0040566 False gamma-glutamyl transpeptidase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009286 MONDO:0003847 False gluteal muscles, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009288 MONDO:0023258 False glycogen storage disease Ib glycogen storage disease type 1 due to SLC37A4 mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009295 MONDO:0003689 False glycogen storage disease VII familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009295 MONDO:0017688 False glycogen storage disease VII disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009295 MONDO:0020585 False glycogen storage disease VII anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009295 MONDO:0003689 False glycogen storage disease VII familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009295 MONDO:0017688 False glycogen storage disease VII disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009295 MONDO:0020585 False glycogen storage disease VII anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009296 MONDO:0002561 False glycoprotein storage disease lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009297 MONDO:0100191 False familial renal glucosuria inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009298 MONDO:0003847 False GOMBO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009306 MONDO:0017855 False combined immunodeficiency with skin granulomas T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009306 MONDO:0017855 False combined immunodeficiency with skin granulomas T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009306 MONDO:0100118 False combined immunodeficiency with skin granulomas hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009307 MONDO:0018305 False granulomatous disease with defect in neutrophil chemotaxis chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009311 MONDO:0003847 False grouped pigmentation of the retina hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009313 MONDO:0002254 False Grubben-de Cock-Borghgraef syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0002242 False congenital factor XII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0002243 False congenital factor XII deficiency hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009315 MONDO:0009332 False congenital factor XII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009315 MONDO:0002242 False congenital factor XII deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009315 MONDO:0002243 False congenital factor XII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009315 MONDO:0009332 False congenital factor XII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009318 MONDO:0800063 False Hallermann-Streiff syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009323 MONDO:0003847 False Halothane hepatitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009327 MONDO:0003847 False heart, malformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009327 MONDO:0019512 False heart, malformation of congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009328 MONDO:0003847 False hemangiomatosis, cutaneous, with associated features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009330 MONDO:0016238 False hemangiopericytoma, malignant solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009332 MONDO:0005570 False congenital hematological disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009330 MONDO:0016238 False hemangiopericytoma, malignant solitary fibrous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009332 MONDO:0005570 False congenital hematological disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009333 MONDO:0002254 False mullerian derivatives-lymphangiectasia-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009334 MONDO:0017319 False hemolytic anemia with thermal sensitivity of red cells hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009335 MONDO:0020573 False hemolytic uremic syndrome, atypical, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009336 MONDO:0008346 False hemosiderosis, pulmonary, with deficiency of gamma-a globulin pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009338 MONDO:0019514 False hepatic veno-occlusive disease-immunodeficiency syndrome hepatic veno-occlusive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009336 MONDO:0008346 False hemosiderosis, pulmonary, with deficiency of gamma-a globulin pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009338 MONDO:0019514 False hepatic veno-occlusive disease-immunodeficiency syndrome hepatic veno-occlusive disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009340 MONDO:0003689 False non-spherocytic hemolytic anemia due to hexokinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009340 MONDO:0017688 False non-spherocytic hemolytic anemia due to hexokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009340 MONDO:0017688 False non-spherocytic hemolytic anemia due to hexokinase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009340 MONDO:0020585 False non-spherocytic hemolytic anemia due to hexokinase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009341 MONDO:0000508 False Mowat-Wilson syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009341 MONDO:0002320 False Mowat-Wilson syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009341 MONDO:0000508 False Mowat-Wilson syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009341 MONDO:0002320 False Mowat-Wilson syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009342 MONDO:0002254 False Hirschsprung disease-hearing loss-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009342 MONDO:0021189 False Hirschsprung disease-hearing loss-polydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009343 MONDO:0003847 False Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009344 MONDO:0002254 False Hirschsprung disease-nail hypoplasia-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009344 MONDO:0021189 False Hirschsprung disease-nail hypoplasia-dysmorphism syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009346 MONDO:0009345 False histidinuria due to a renal tubular defect histidinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009346 MONDO:0019216 False histidinuria due to a renal tubular defect inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009346 MONDO:0009345 False histidinuria due to a renal tubular defect histidinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009346 MONDO:0019216 False histidinuria due to a renal tubular defect inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009347 MONDO:0003847 False familial lipochrome histiocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009347 MONDO:0024627 False familial lipochrome histiocytosis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009351 MONDO:0019232 False homocarnosinosis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23457,60 +23492,60 @@ MONDO:0009352 MONDO:0004737 False classic homocystinuria homocystinuria UNSUPPOR MONDO:0009353 MONDO:0004737 False homocystinuria due to methylene tetrahydrofolate reductase deficiency homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009355 MONDO:0003847 False Hooft disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009356 MONDO:0006025 False autosomal recessive humeroradial synostosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009356 MONDO:0007737 False autosomal recessive humeroradial synostosis humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009357 MONDO:0007737 False humeroradial synostosis with craniofacial anomalies humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009356 MONDO:0007737 False autosomal recessive humeroradial synostosis humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009357 MONDO:0007737 False humeroradial synostosis with craniofacial anomalies humeroradial synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009358 MONDO:0003847 False Hutterite cerebroosteonephrodysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009360 MONDO:0006025 False hydrocephalus, nonsyndromic, autosomal recessive 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009361 MONDO:0006025 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009361 MONDO:0016349 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009361 MONDO:0016349 False autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009362 MONDO:0002254 False growth delay-hydrocephaly-lung hypoplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009362 MONDO:0005087 False growth delay-hydrocephaly-lung hypoplasia syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009371 MONDO:0019242 False 3-hydroxyisobutyric aciduria inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009371 MONDO:0019242 False 3-hydroxyisobutyric aciduria inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0037870 False 3-hydroxyisobutyric aciduria valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009374 MONDO:0003847 False hydroxyprolinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009375 MONDO:0003847 False hymen, imperforate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009376 MONDO:0800153 False carbamoyl phosphate synthetase I deficiency disease urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009377 MONDO:0800153 False hyperammonemia due to N-acetylglutamate synthase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009380 MONDO:0002254 False Dubin-Johnson syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009381 MONDO:0002408 False hyperbilirubinemia, conjugated, type 3 hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009382 MONDO:0002408 False hyperbilirubinemia, shunt, primary hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009380 MONDO:0002254 False Dubin-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009381 MONDO:0002408 False hyperbilirubinemia, conjugated, type 3 hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009382 MONDO:0002408 False hyperbilirubinemia, shunt, primary hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009383 MONDO:0005154 False transient familial neonatal hyperbilirubinemia liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009384 MONDO:0003847 False Leydig cell hypoplasia, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009384 MONDO:0019155 False Leydig cell hypoplasia, type 1 Leydig cell hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009385 MONDO:0003847 False hyperleucine-Isoleucinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009386 MONDO:0001697 False hyperlexia reading disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009386 MONDO:0003847 False hyperlexia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0015905 False familial lipoprotein lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009387 MONDO:0037748 False familial lipoprotein lipase deficiency hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009389 MONDO:0009388 False hyperlysinemia due to defect in lysine transport into mitochondria hyperlysinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0015905 False familial lipoprotein lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009387 MONDO:0037748 False familial lipoprotein lipase deficiency hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009389 MONDO:0009388 False hyperlysinemia due to defect in lysine transport into mitochondria hyperlysinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009390 MONDO:0003847 False hyperlysinuria with hyperammonemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009391 MONDO:0003847 False hypermetabolism due to defect in mitochondria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009392 MONDO:0003847 False hyperopia, high hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009393 MONDO:0002254 False ornithine translocase deficiency syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009393 MONDO:0002254 False ornithine translocase deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009393 MONDO:0800153 False ornithine translocase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009396 MONDO:0003847 False hyperparathyroidism, neonatal self-limited primary, with hypercalciuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009397 MONDO:0016365 False neonatal severe primary hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009397 MONDO:0019060 False neonatal severe primary hyperparathyroidism bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009397 MONDO:0023603 False neonatal severe primary hyperparathyroidism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009397 MONDO:0016365 False neonatal severe primary hyperparathyroidism familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009397 MONDO:0019060 False neonatal severe primary hyperparathyroidism bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009397 MONDO:0023603 False neonatal severe primary hyperparathyroidism hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009397 MONDO:0800096 False neonatal severe primary hyperparathyroidism abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009399 MONDO:0003847 False hyperphosphatemia, polyuria, and seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009402 MONDO:0002254 False acrofrontofacionasal dysostosis 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009402 MONDO:0008715 False acrofrontofacionasal dysostosis 2 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009402 MONDO:0008715 False acrofrontofacionasal dysostosis 2 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009403 MONDO:0003847 False hypertelorism and tetralogy of fallot hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009406 MONDO:0002254 False hypertrichotic osteochondrodysplasia Cantu type syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009406 MONDO:0003847 False hypertrichotic osteochondrodysplasia Cantu type hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009406 MONDO:0002254 False hypertrichotic osteochondrodysplasia Cantu type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009406 MONDO:0003847 False hypertrichotic osteochondrodysplasia Cantu type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009406 MONDO:0015160 False hypertrichotic osteochondrodysplasia Cantu type multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009407 MONDO:0003847 False hypertrophic neuropathy and cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009408 MONDO:0003847 False hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009409 MONDO:0020573 False hypervitaminosis a, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009411 MONDO:0005495 False autoimmune polyendocrine syndrome type 1 adrenal gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009411 MONDO:0018242 False autoimmune polyendocrine syndrome type 1 autoimmune hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009412 MONDO:0024298 False scurvy vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009411 MONDO:0005495 False autoimmune polyendocrine syndrome type 1 adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009411 MONDO:0018242 False autoimmune polyendocrine syndrome type 1 autoimmune hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009412 MONDO:0024298 False scurvy vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009412 MONDO:0037792 False scurvy carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009412 MONDO:0045022 False scurvy disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009416 MONDO:0005151 False hypoinsulinemic hypoglycemia and body hemihypertrophy endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009416 MONDO:0005151 False hypoinsulinemic hypoglycemia and body hemihypertrophy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009417 MONDO:0002254 False hypergonadotropic hypogonadism-cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009418 MONDO:0003847 False hypogonadism with low-grade mental deficiency and microcephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009420 MONDO:0002254 False primary hypergonadotropic hypogonadism-partial alopecia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23526,27 +23561,27 @@ MONDO:0009430 MONDO:0800096 False hypophosphatemic rickets, autosomal recessive, MONDO:0009431 MONDO:0800096 False hereditary hypophosphatemic rickets with hypercalciuria abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009432 MONDO:0003847 False hypopituitarism, congenital, with central diabetes insipidus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009435 MONDO:0002254 False hypospadias-intellectual disability, Goldblatt type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009436 MONDO:0007804 False congenital hypothalamic hamartoma syndrome Pallister-Hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009437 MONDO:0002254 False Bamforth-Lazarus syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009437 MONDO:0003847 False Bamforth-Lazarus syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009436 MONDO:0007804 False congenital hypothalamic hamartoma syndrome Pallister-Hall syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009437 MONDO:0002254 False Bamforth-Lazarus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009437 MONDO:0003847 False Bamforth-Lazarus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009438 MONDO:0009071 False hypouricemia, hypercalcinuria, and decreased bone density hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009439 MONDO:0017267 False autosomal recessive congenital ichthyosis 2 self-healing collodion baby UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009439 MONDO:0019306 False autosomal recessive congenital ichthyosis 2 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009442 MONDO:0003847 False ichthyosis congenita with biliary atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009443 MONDO:0011026 False autosomal recessive congenital ichthyosis 4B autosomal recessive congenital ichthyosis 4A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009443 MONDO:0011026 False autosomal recessive congenital ichthyosis 4B autosomal recessive congenital ichthyosis 4A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009445 MONDO:0002254 False ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009446 MONDO:0002254 False ichthyosis-intellectual disability-dwarfism-renal impairment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009446 MONDO:0003847 False ichthyosis-intellectual disability-dwarfism-renal impairment syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009447 MONDO:0003847 False ichthyosis, split hairs, and amino aciduria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009449 MONDO:0016575 False ciliary dyskinesia with defective radial spokes primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009450 MONDO:0016575 False ciliary dyskinesia with excessively long cilia primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009452 MONDO:0005046 False Vici syndrome immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009449 MONDO:0016575 False ciliary dyskinesia with defective radial spokes primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009450 MONDO:0016575 False ciliary dyskinesia with excessively long cilia primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009452 MONDO:0005046 False Vici syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009453 MONDO:0003847 False immune deficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0005046 False immune deficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009455 MONDO:0003847 False immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009456 MONDO:0009973 False Immunoerythromyeloid hypoplasia reticular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009456 MONDO:0009973 False Immunoerythromyeloid hypoplasia reticular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009457 MONDO:0003847 False immunoglobulin d level in plasma, low hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009458 MONDO:0016761 False Schimke immuno-osseous dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009458 MONDO:0016761 False Schimke immuno-osseous dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009459 MONDO:0002254 False channelopathy-associated congenital insensitivity to pain, autosomal recessive syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009459 MONDO:0003847 False channelopathy-associated congenital insensitivity to pain, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009460 MONDO:0003847 False indolylacroyl glycinuria with intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23555,35 +23590,35 @@ MONDO:0009463 MONDO:0003847 False internal carotid arteries, hypoplasia of hered MONDO:0009464 MONDO:0003778 False immunodeficiency with defective T-cell response to interleukin 1 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009465 MONDO:0021147 False multiple intestinal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009467 MONDO:0021147 False natal teeth-intestinal pseudoobstruction-patent ductus syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009468 MONDO:0011057 False pseudotumor cerebri cerebrovascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009469 MONDO:0015762 False benign recurrent intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009468 MONDO:0011057 False pseudotumor cerebri cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009469 MONDO:0015762 False benign recurrent intrahepatic cholestasis type 1 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009470 MONDO:0700120 False Baraitser-Winter syndrome 1 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009471 MONDO:0009852 False intrinsic factor and r binder, combined congenital deficiency of hereditary intrinsic factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009471 MONDO:0009852 False intrinsic factor and r binder, combined congenital deficiency of hereditary intrinsic factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009472 MONDO:0003847 False acetylation, slow hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009473 MONDO:0015160 False isotretinoin-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009474 MONDO:0003847 False isovaleric acid, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009476 MONDO:0021147 False atresia of small intestine disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009476 MONDO:0024635 False atresia of small intestine small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009479 MONDO:0002320 False Johanson-Blizzard syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009479 MONDO:0002320 False Johanson-Blizzard syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009479 MONDO:0005365 False Johanson-Blizzard syndrome hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009479 MONDO:0037940 False Johanson-Blizzard syndrome inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009480 MONDO:0002254 False Joubert syndrome with oculorenal defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009480 MONDO:0024458 False Joubert syndrome with oculorenal defect disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009481 MONDO:0003847 False Jumping Frenchmen of Maine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009482 MONDO:0018800 False hypogonadotropic hypogonadism 3 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009485 MONDO:0002254 False oculocerebrofacial syndrome, Kaufman type syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009482 MONDO:0018800 False hypogonadotropic hypogonadism 3 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009485 MONDO:0002254 False oculocerebrofacial syndrome, Kaufman type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009487 MONDO:0003847 False keratoconus and congenital hip dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009488 MONDO:0003847 False keratoconus posticus circumscriptus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009490 MONDO:0002635 False Papillon-Lefevre disease periodontal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009490 MONDO:0002635 False Papillon-Lefevre disease periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009490 MONDO:0800465 False Papillon-Lefevre disease CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009491 MONDO:0006025 False Haim-Munk syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009491 MONDO:0800465 False Haim-Munk syndrome CTSC-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009495 MONDO:0019054 False Keutel syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009495 MONDO:0019054 False Keutel syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009496 MONDO:0003847 False Kniest-like dysplasia with pursed lips and ectopia lentis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009497 MONDO:0003847 False Kifafa seizure disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009498 MONDO:0005516 False lethal Kniest-like dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009499 MONDO:0004884 False Krabbe disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009499 MONDO:0020127 False Krabbe disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009499 MONDO:0020127 False Krabbe disease hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009500 MONDO:0015979 False kuru, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009501 MONDO:0700223 False metabolic myopathy due to lactate transporter defect hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009504 MONDO:0006040 False mitochondrial DNA depletion syndrome 9 lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23591,14 +23626,14 @@ MONDO:0009505 MONDO:0017688 False lactic aciduria due to D-lactic acid disorder MONDO:0009506 MONDO:0003847 False specific granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0024626 False specific granule deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009508 MONDO:0003847 False Lambotte syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0002254 False Landau-Kleffner syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009509 MONDO:0015653 False Landau-Kleffner syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009511 MONDO:0005267 False Larsen-like syndrome, B3GAT3 type heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009509 MONDO:0002254 False Landau-Kleffner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009509 MONDO:0015653 False Landau-Kleffner syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009511 MONDO:0005267 False Larsen-like syndrome, B3GAT3 type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009513 MONDO:0002254 False laryngo-onycho-cutaneous syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009513 MONDO:0005087 False laryngo-onycho-cutaneous syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009516 MONDO:0003847 False absence deformity of leg-cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009518 MONDO:0015979 False leprosy, susceptibility to, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009519 MONDO:0017025 False letterer-Siwe disease Langerhans cell histiocytosis specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009519 MONDO:0017025 False letterer-Siwe disease Langerhans cell histiocytosis specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009521 MONDO:0003847 False leukemia, acute myelocytic, with polyposis coli and colon cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009521 MONDO:0020683 False leukemia, acute myelocytic, with polyposis coli and colon cancer acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009525 MONDO:0015160 False split hand-foot malformation 3 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23606,32 +23641,32 @@ MONDO:0009526 MONDO:0018234 False fibular aplasia, tibial campomelia, and oligos MONDO:0009526 MONDO:0019054 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009526 MONDO:0019713 False fibular aplasia, tibial campomelia, and oligosyndactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009530 MONDO:0100118 False lipoid proteinosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009533 MONDO:0019313 False Dahlberg-Borer-Newcomer syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009534 MONDO:0015279 False chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009536 MONDO:0015279 False chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009533 MONDO:0019313 False Dahlberg-Borer-Newcomer syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009534 MONDO:0015279 False chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009536 MONDO:0015279 False chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009538 MONDO:0003847 False lymphoid system deterioration, progressive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009539 MONDO:0004967 False lymphoblastic leukemia, acute, with lymphomatous features acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009540 MONDO:0015279 False chronic mucocutaneous candidiasis due to lymphokine deficiency chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009540 MONDO:0015279 False chronic mucocutaneous candidiasis due to lymphokine deficiency chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009541 MONDO:0003847 False lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009542 MONDO:0003847 False lysine malabsorption syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009542 MONDO:0020598 False lysine malabsorption syndrome malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009544 MONDO:0016608 False macrocephaly/megalencephaly syndrome, autosomal recessive megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009545 MONDO:0003847 False macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009546 MONDO:0003847 False macrosomia adiposa congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009547 MONDO:0015161 False macrosomia-microphthalmia-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009547 MONDO:0015161 False macrosomia-microphthalmia-cleft palate syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009548 MONDO:0020242 False renal hypomagnesemia 5 with ocular involvement hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009549 MONDO:0019353 False severe early-childhood-onset retinal dystrophy Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009549 MONDO:0019353 False severe early-childhood-onset retinal dystrophy Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009549 MONDO:0800406 False severe early-childhood-onset retinal dystrophy ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009550 MONDO:0001567 False renal hypomagnesemia 3 nephrocalcinosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009550 MONDO:0006510 False renal hypomagnesemia 3 renal tubular transport disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009550 MONDO:0001567 False renal hypomagnesemia 3 nephrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009550 MONDO:0006510 False renal hypomagnesemia 3 renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009551 MONDO:0003847 False magnesium, elevated red cell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009555 MONDO:0003847 False malocclusion and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009556 MONDO:0000688 False malonic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009556 MONDO:0000688 False malonic aciduria inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009559 MONDO:0003847 False mandibulofacial dysostosis with mental deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0003847 False oculotrichoanal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0015160 False oculotrichoanal syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009561 MONDO:0005328 False alpha-mannosidosis eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009564 MONDO:0005308 False Marden-Walker syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009561 MONDO:0005328 False alpha-mannosidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009564 MONDO:0005308 False Marden-Walker syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009569 MONDO:0015160 False Hennekam-Beemer syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009571 MONDO:0800066 False Meckel syndrome, type 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009572 MONDO:0006025 False autosomal recessive familial Mediterranean fever autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23643,17 +23678,17 @@ MONDO:0009578 MONDO:0000648 False neurocutaneous melanocytosis nervous system be MONDO:0009578 MONDO:0005073 False neurocutaneous melanocytosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0042983 False neurocutaneous melanocytosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009578 MONDO:0100118 False neurocutaneous melanocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009579 MONDO:0002254 False Frank-Ter Haar syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009579 MONDO:0002254 False Frank-Ter Haar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009582 MONDO:0002254 False Mietens syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0015160 False Mietens syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009582 MONDO:0024458 False Mietens syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009583 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, Ohdo type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0000508 False intellectual disability, Buenos-Aires type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009584 MONDO:0002320 False intellectual disability, Buenos-Aires type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009585 MONDO:0024237 False encephalopathy due to beta-mercaptolactate-cysteine disulfiduria inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009585 MONDO:0024237 False encephalopathy due to beta-mercaptolactate-cysteine disulfiduria inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009586 MONDO:0003847 False mesangial sclerosis, diffuse renal, with ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009587 MONDO:0003847 False mesoaxial hexadactyly and cardiac malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009588 MONDO:0023599 False Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009588 MONDO:0023599 False Langer mesomelic dysplasia mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009589 MONDO:0002254 False mesomelic dwarfism-cleft palate-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0018868 False metachromatic leukodystrophy due to saposin B deficiency metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0100517 False metachromatic leukodystrophy due to saposin B deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23665,12 +23700,12 @@ MONDO:0009596 MONDO:0003847 False metaphyseal chondrodysplasia, Pena type heredi MONDO:0009597 MONDO:0005516 False metaphyseal chondrodysplasia, Spahr type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0002254 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009598 MONDO:0005516 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009598 MONDO:0018230 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009598 MONDO:0018230 False metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009599 MONDO:0002254 False metaphyseal dysostosis-intellectual disability-conductive deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009600 MONDO:0003847 False metaphyseal dysplasia, anetoderma, and optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009601 MONDO:0009595 False metaphyseal dysplasia without hypotrichosis cartilage-hair hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009601 MONDO:0009595 False metaphyseal dysplasia without hypotrichosis cartilage-hair hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009602 MONDO:0003847 False metaphyseal modeling abnormality, skin lesions, and spastic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009603 MONDO:0019242 False 3-hydroxyisobutyryl-CoA hydrolase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009603 MONDO:0019242 False 3-hydroxyisobutyryl-CoA hydrolase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009603 MONDO:0037870 False 3-hydroxyisobutyryl-CoA hydrolase deficiency valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009604 MONDO:0018963 False methemoglobin reductase deficiency hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009605 MONDO:0018963 False methemoglobinemia type 4 hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23683,38 +23718,38 @@ MONDO:0009617 MONDO:0100200 False microcephaly 1, primary, autosomal recessive m MONDO:0009619 MONDO:0003847 False microcephaly-micromelia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009620 MONDO:0002254 False Say-Barber-Miller syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009622 MONDO:0003847 False Jawad syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0015327 False Nijmegen breakage syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009623 MONDO:0021190 False Nijmegen breakage syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009627 MONDO:0006025 False Galloway-Mowat syndrome autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009623 MONDO:0015327 False Nijmegen breakage syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009623 MONDO:0021190 False Nijmegen breakage syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009627 MONDO:0006025 False Galloway-Mowat syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009632 MONDO:0003847 False microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009633 MONDO:0100236 False microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009634 MONDO:0002254 False microtia with meatal atresia and conductive deafness syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009634 MONDO:0003847 False microtia with meatal atresia and conductive deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009635 MONDO:0045032 False microvillus inclusion disease congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009637 MONDO:0002921 False inborn mitochondrial myopathy congenital structural myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009637 MONDO:0004069 False inborn mitochondrial myopathy inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009637 MONDO:0002921 False inborn mitochondrial myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009637 MONDO:0004069 False inborn mitochondrial myopathy inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009638 MONDO:0009637 False mitochondrial myopathy with a defect in mitochondrial-protein transport inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009642 MONDO:0019691 False orofaciodigital syndrome type II short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009645 MONDO:0015279 False chronic mucocutaneous candidiasis due to monocyte chemotactic disorder chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009642 MONDO:0019691 False orofaciodigital syndrome type II short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009645 MONDO:0015279 False chronic mucocutaneous candidiasis due to monocyte chemotactic disorder chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009647 MONDO:0018938 False Morquio syndrome C mucopolysaccharidosis type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009650 MONDO:0100122 False mucolipidosis type II GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009653 MONDO:0005328 False mucolipidosis type IV eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009661 MONDO:0002254 False mucopolysaccharidosis type 6 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009661 MONDO:0005328 False mucopolysaccharidosis type 6 eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009653 MONDO:0005328 False mucolipidosis type IV eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009661 MONDO:0002254 False mucopolysaccharidosis type 6 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009661 MONDO:0005328 False mucopolysaccharidosis type 6 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009663 MONDO:0003847 False mucus inspissation of respiratory tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009664 MONDO:0021147 False mulibrey nanism disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009664 MONDO:0100306 False mulibrey nanism disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009665 MONDO:0015653 False biotinidase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009665 MONDO:0015653 False biotinidase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009665 MONDO:0100033 False biotinidase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0015653 False holocarboxylase synthetase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0019242 False holocarboxylase synthetase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009666 MONDO:0015653 False holocarboxylase synthetase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009666 MONDO:0019242 False holocarboxylase synthetase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009666 MONDO:0100033 False holocarboxylase synthetase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0700068 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009668 MONDO:0002254 False lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009668 MONDO:0015159 False lethal multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009668 MONDO:0002254 False lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009668 MONDO:0015159 False lethal multiple pterygium syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009674 MONDO:0003847 False muscular dystrophy, adult-onset, with leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009678 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009678 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009678 MONDO:0700067 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009679 MONDO:0015168 False arthrogryposis due to muscular dystrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009679 MONDO:0019950 False arthrogryposis due to muscular dystrophy congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23723,91 +23758,91 @@ MONDO:0009682 MONDO:0019950 False muscular dystrophy, congenital, with rapid pro MONDO:0009684 MONDO:0003847 False muscular hypertonia, lethal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009686 MONDO:0003847 False musk, inability to smell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009687 MONDO:0002320 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009687 MONDO:0018940 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009688 MONDO:0000590 False myasthenia gravis autoimmune disorder of peripheral nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009689 MONDO:0002320 False congenital myasthenic syndrome 6 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009690 MONDO:0019950 False congenital myasthenic syndrome 10 congenital muscular dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009687 MONDO:0018940 False myasthenia, congenital, refractory to acetylcholinesterase inhibitors congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009688 MONDO:0000590 False myasthenia gravis autoimmune disorder of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009689 MONDO:0002320 False congenital myasthenic syndrome 6 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009690 MONDO:0019950 False congenital myasthenic syndrome 10 congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009690 MONDO:0020344 False congenital myasthenic syndrome 10 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009693 MONDO:0000621 False plasma cell myeloma immune system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009693 MONDO:0000621 False plasma cell myeloma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009694 MONDO:0003847 False myeloperoxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009694 MONDO:0024626 False myeloperoxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009695 MONDO:0020076 False myeloproliferative disease, autosomal recessive myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0000414 False juvenile myoclonic epilepsy childhood electroclinical syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0005395 False juvenile myoclonic epilepsy movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009696 MONDO:0000414 False juvenile myoclonic epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009696 MONDO:0005395 False juvenile myoclonic epilepsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009696 MONDO:0100030 False juvenile myoclonic epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009697 MONDO:0002412 False Lafora disease disorder of glycogen metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009697 MONDO:0005395 False Lafora disease movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009698 MONDO:0005395 False Unverricht-Lundborg syndrome movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009697 MONDO:0002412 False Lafora disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0009697 MONDO:0005395 False Lafora disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009698 MONDO:0005395 False Unverricht-Lundborg syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009701 MONDO:0003847 False myopathy, granulovacuolar lobular, with electrical myotonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009702 MONDO:0003847 False myopathy due to malate-aspartate shuttle defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009703 MONDO:0005336 False myopathy with abnormal lipid metabolism myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009703 MONDO:0700223 False myopathy with abnormal lipid metabolism hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009705 MONDO:0037858 False carnitine palmitoyl transferase 1A deficiency inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009705 MONDO:0037858 False carnitine palmitoyl transferase 1A deficiency inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009706 MONDO:0044970 False hereditary myopathy with lactic acidosis due to ISCU deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009706 MONDO:0700223 False hereditary myopathy with lactic acidosis due to ISCU deficiency hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009707 MONDO:0003847 False myopathy with giant abnormal mitochondria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009711 MONDO:0002921 False congenital fiber-type disproportion myopathy congenital structural myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009711 MONDO:0002921 False congenital fiber-type disproportion myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009711 MONDO:0100108 False congenital fiber-type disproportion myopathy TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0100150 False congenital fiber-type disproportion myopathy RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009711 MONDO:0100196 False congenital fiber-type disproportion myopathy TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009712 MONDO:0002320 False congenital multicore myopathy with external ophthalmoplegia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009712 MONDO:0002320 False congenital multicore myopathy with external ophthalmoplegia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009712 MONDO:0100150 False congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009714 MONDO:0100225 False myosclerosis collagen 6-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009714 MONDO:0700223 False myosclerosis hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009715 MONDO:0006025 False myotonia congenita, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009715 MONDO:0009710 False myotonia congenita, autosomal recessive Thomsen and Becker disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009716 MONDO:0015161 False Richieri Costa-da Silva syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009716 MONDO:0015161 False Richieri Costa-da Silva syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009716 MONDO:0016761 False Richieri Costa-da Silva syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009717 MONDO:0002254 False Schwartz-Jampel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009717 MONDO:0002254 False Schwartz-Jampel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009717 MONDO:0006025 False Schwartz-Jampel syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009717 MONDO:0016761 False Schwartz-Jampel syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009719 MONDO:0003847 False familial atrial myxoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009719 MONDO:0021209 False familial atrial myxoma heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009721 MONDO:0002254 False Nathalie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009722 MONDO:0002320 False Bailey-Bloch congenital myopathy congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009722 MONDO:0002320 False Bailey-Bloch congenital myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009724 MONDO:0005240 False nail-patella-like renal disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015735 False nemaline myopathy 2 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015736 False nemaline myopathy 2 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015737 False nemaline myopathy 2 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015738 False nemaline myopathy 2 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009726 MONDO:0005046 False proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009726 MONDO:0005046 False proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009726 MONDO:0023603 False proteosome-associated autoinflammatory syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000226 False atelosteogenesis type II mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009727 MONDO:0019052 False atelosteogenesis type II inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009728 MONDO:0002254 False nephronophthisis 1 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009727 MONDO:0019052 False atelosteogenesis type II inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009728 MONDO:0002254 False nephronophthisis 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009729 MONDO:0002254 False nephropathy - deafness - hyperparathyroidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009729 MONDO:0003847 False nephropathy - deafness - hyperparathyroidism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009731 MONDO:0002254 False nephrosis-deafness-urinary tract-digital malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0002254 False Netherton syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009735 MONDO:0005328 False Netherton syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009737 MONDO:0005328 False galactosialidosis eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009735 MONDO:0002254 False Netherton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009735 MONDO:0005328 False Netherton syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009737 MONDO:0005328 False galactosialidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009741 MONDO:0015356 False neuroblastoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009742 MONDO:0003847 False neuroectodermal melanolysosomal disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009743 MONDO:0003847 False neurologic disease, infantile multisystem, with osseous fragility hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009745 MONDO:0015674 False neuronal ceroid lipofuscinosis 5 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009745 MONDO:0015674 False neuronal ceroid lipofuscinosis 5 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009750 MONDO:0003847 False neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009752 MONDO:0003847 False neuropathy, painful hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009754 MONDO:0008742 False neutropenia, lethal congenital, with eosinophilia autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009755 MONDO:0100118 False neutrophil actin dysfunction hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009756 MONDO:0005328 False Niemann-Pick disease type A eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009756 MONDO:0006025 False Niemann-Pick disease type A autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009756 MONDO:0005328 False Niemann-Pick disease type A eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009756 MONDO:0006025 False Niemann-Pick disease type A autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009756 MONDO:0100464 False Niemann-Pick disease type A acid sphingomyelinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009757 MONDO:0018982 False Niemann-Pick disease, type C1 Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009758 MONDO:0002320 False congenital stationary night blindness 1B congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009758 MONDO:0002320 False congenital stationary night blindness 1B congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009758 MONDO:0800397 False congenital stationary night blindness 1B GRM6-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009760 MONDO:0002254 False Norman-Roberts syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009760 MONDO:0019313 False Norman-Roberts syndrome lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009760 MONDO:0002254 False Norman-Roberts syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009760 MONDO:0019313 False Norman-Roberts syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009760 MONDO:0043218 False Norman-Roberts syndrome neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009763 MONDO:0003847 False obesity-hypoventilation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009765 MONDO:0003847 False ocular myopathy with curare sensitivity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009766 MONDO:0003847 False oculocerebral hypopigmentation syndrome of Preus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009767 MONDO:0021147 False oculocerebral hypopigmentation syndrome, Cross type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009768 MONDO:0006025 False oculodentodigital dysplasia, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009768 MONDO:0008111 False oculodentodigital dysplasia, autosomal recessive oculodentodigital dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009768 MONDO:0008111 False oculodentodigital dysplasia, autosomal recessive oculodentodigital dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009772 MONDO:0003847 False oculorenocerebellar syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009773 MONDO:0006025 False odonto-onycho-dermal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009773 MONDO:0100358 False odonto-onycho-dermal dysplasia ectodermal dysplasia WNT10A related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009774 MONDO:0002254 False cloacal exstrophy syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009774 MONDO:0002254 False cloacal exstrophy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009775 MONDO:0019152 False Oguchi disease-1 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009778 MONDO:0003847 False olivopontocerebellar atrophy II, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009781 MONDO:0003847 False Onychotrichodysplasia and neutropenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23820,25 +23855,25 @@ MONDO:0009789 MONDO:0020573 False nonarteritic anterior ischemic optic neuropath MONDO:0009790 MONDO:0003847 False Opticocochleodentate degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009791 MONDO:0003847 False oral sensibility, disturbance of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009792 MONDO:0002254 False ichthyosis-oral and digital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0019118 False ornithine aminotransferase deficiency inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009796 MONDO:0043218 False ornithine aminotransferase deficiency neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009796 MONDO:0019118 False ornithine aminotransferase deficiency inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009796 MONDO:0043218 False ornithine aminotransferase deficiency neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009798 MONDO:0002254 False Primrose syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009798 MONDO:0003847 False Primrose syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009800 MONDO:0017194 False Blount disease, adolescent Blount disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009801 MONDO:0002254 False familial osteodysplasia, Anderson type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009801 MONDO:0018230 False familial osteodysplasia, Anderson type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009801 MONDO:0018230 False familial osteodysplasia, Anderson type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009801 MONDO:0021147 False familial osteodysplasia, Anderson type disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009802 MONDO:0003847 False osteodysplasty, precocious, of Danks, Mayne, and Kozlowski hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009803 MONDO:0003847 False congenital osteogenesis imperfecta-microcephaly-cataracts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009804 MONDO:0800064 False osteogenesis imperfecta type 3 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009805 MONDO:0800064 False osteogenesis imperfecta type 9 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009806 MONDO:0017195 False Bruck syndrome 1 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009809 MONDO:0002254 False multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009809 MONDO:0002254 False multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009809 MONDO:0018298 False multicentric osteolysis, nodulosis, and arthropathy multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009811 MONDO:0003847 False osteoma of middle ear hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009813 MONDO:0023603 False chronic recurrent multifocal osteomyelitis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009813 MONDO:0023603 False chronic recurrent multifocal osteomyelitis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009814 MONDO:0002254 False osteopenia-intellectual disability-sparse hair syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009817 MONDO:0010866 False autosomal recessive osteopetrosis 5 infantile osteopetrosis with neuroaxonal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009817 MONDO:0010866 False autosomal recessive osteopetrosis 5 infantile osteopetrosis with neuroaxonal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009820 MONDO:0020247 False osteoporosis-pseudoglioma syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009820 MONDO:0700228 False osteoporosis-pseudoglioma syndrome LRP5-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009820 MONDO:0800064 False osteoporosis-pseudoglioma syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23847,21 +23882,21 @@ MONDO:0009823 MONDO:0100278 False primary hyperoxaluria type 1 alanine glyoxylat MONDO:0009825 MONDO:0040566 False 5-oxoprolinase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009826 MONDO:0003847 False PA polymorphism of alpha-2-globulin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009828 MONDO:0003847 False palant cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009832 MONDO:0003847 False pancreatic agenesis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009832 MONDO:0003847 False pancreatic agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009832 MONDO:0021147 False pancreatic agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009833 MONDO:0006025 False Shwachman-Diamond syndrome autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009835 MONDO:0006009 False subacute sclerosing panencephalitis viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009833 MONDO:0006025 False Shwachman-Diamond syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009835 MONDO:0006009 False subacute sclerosing panencephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009836 MONDO:0003847 False pancreatitis, sclerosing cholangitis, and sicca complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009837 MONDO:0003847 False choroid plexus papilloma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009838 MONDO:0002254 False Parana hard-skin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009838 MONDO:0005093 False Parana hard-skin syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009837 MONDO:0003847 False choroid plexus papilloma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009838 MONDO:0002254 False Parana hard-skin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009838 MONDO:0005093 False Parana hard-skin syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009840 MONDO:0003847 False Partington-Anderson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009841 MONDO:0002254 False PEHO syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009841 MONDO:0002254 False PEHO syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009842 MONDO:0019751 False Pelger-Huet-like anomaly and episodic fever with abdominal pain autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009842 MONDO:0023603 False Pelger-Huet-like anomaly and episodic fever with abdominal pain hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009844 MONDO:0003847 False pellagra-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009845 MONDO:0019713 False pelviscapular dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009846 MONDO:0019231 False pentosuria inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009845 MONDO:0019713 False pelviscapular dysplasia non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009846 MONDO:0019231 False pentosuria inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009847 MONDO:0001370 False pericardial effusion, chronic pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009847 MONDO:0003847 False pericardial effusion, chronic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009849 MONDO:0005046 False hyperimmunoglobulinemia D with periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23871,20 +23906,20 @@ MONDO:0009851 MONDO:0003847 False peripheral neuropathy, ataxia, focal necrotizi MONDO:0009853 MONDO:0001700 False Imerslund-Grasbeck syndrome megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009853 MONDO:0002254 False Imerslund-Grasbeck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009854 MONDO:0003847 False peroneus tertius muscle, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0005267 False Peters plus syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009856 MONDO:0005328 False Peters plus syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009856 MONDO:0005267 False Peters plus syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009856 MONDO:0005328 False Peters plus syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009860 MONDO:0003847 False phenformin 4-hydroxylation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009861 MONDO:0006025 False phenylketonuria autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009861 MONDO:0006025 False phenylketonuria autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009862 MONDO:0045014 False dihydropteridine reductase deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009864 MONDO:0017320 False phosphoenolpyruvate carboxykinase deficiency, mitochondrial phosphoenolpyruvate carboxykinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009865 MONDO:0017688 False glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009865 MONDO:0017688 False glycogen storage disease due to phosphoglycerate mutase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009866 MONDO:0017320 False phosphoenolpyruvate carboxykinase deficiency, cytosolic phosphoenolpyruvate carboxykinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009867 MONDO:0800484 False lethal congenital glycogen storage disease of heart PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009869 MONDO:0005328 False isolated Pierre-Robin syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009869 MONDO:0005328 False isolated Pierre-Robin syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009871 MONDO:0002254 False pili torti-developmental delay-neurological abnormalities syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009872 MONDO:0044970 False Bjornstad syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0002254 False Rabson-Mendenhall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009874 MONDO:0003847 False Rabson-Mendenhall syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0002254 False Rabson-Mendenhall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009874 MONDO:0003847 False Rabson-Mendenhall syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009875 MONDO:0100446 False achromatopsia 3 CNGB3-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009878 MONDO:0019591 False pituitary hormone deficiency, combined, 2 panhypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009881 MONDO:0003847 False pituitary dwarfism with large sella turcica hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23893,7 +23928,7 @@ MONDO:0009883 MONDO:0002242 False alpha-2-plasmin inhibitor deficiency coagulati MONDO:0009884 MONDO:0003847 False platelet prostacyclin receptor defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009886 MONDO:0003847 False pleoconial myopathy with salt craving hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009888 MONDO:0003847 False polycystic kidney, cataract, and congenital blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009890 MONDO:0012117 False Gillessen-Kaesbach-Nishimura syndrome ALG9-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009890 MONDO:0012117 False Gillessen-Kaesbach-Nishimura syndrome ALG9-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009893 MONDO:0019673 False polydactyly, postaxial, type A5 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009894 MONDO:0019662 False short-rib thoracic dysplasia 6 with or without polydactyly short rib-polydactyly syndrome, Majewski type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009895 MONDO:0021147 False postaxial polydactyly-dental and vertebral anomalies syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23901,70 +23936,70 @@ MONDO:0009896 MONDO:0003847 False polymyoclonus, infantile hereditary disease UN MONDO:0009898 MONDO:0003847 False polysaccharide, storage of unusual hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009899 MONDO:0003847 False polyhydramnios, chronic idiopathic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009899 MONDO:0700007 False polyhydramnios, chronic idiopathic idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009902 MONDO:0003689 False cutaneous porphyria familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009902 MONDO:0020585 False cutaneous porphyria anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009904 MONDO:0002254 False Gitelman syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009906 MONDO:0008882 False prenatal bowing congenital bowing of long bones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009902 MONDO:0003689 False cutaneous porphyria familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009902 MONDO:0020585 False cutaneous porphyria anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009904 MONDO:0002254 False Gitelman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009906 MONDO:0008882 False prenatal bowing congenital bowing of long bones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009907 MONDO:0003847 False Prepapillary vascular loops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009909 MONDO:0003847 False progesterone resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009910 MONDO:0015327 False Wiedemann-Rautenstrauch syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0015327 False Wiedemann-Rautenstrauch syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0800064 False Wiedemann-Rautenstrauch syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009911 MONDO:0003847 False prolactin deficiency, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009912 MONDO:0003847 False prolactin deficiency with obesity and enlarged testes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009913 MONDO:0003847 False prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009918 MONDO:0007640 False fundus dystrophy, pseudoinflammatory, recessive form Sorsby fundus dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009918 MONDO:0007640 False fundus dystrophy, pseudoinflammatory, recessive form Sorsby fundus dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009920 MONDO:0002254 False Acrootoocular syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009921 MONDO:0002254 False holoprosencephaly-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009921 MONDO:0002254 False holoprosencephaly-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009922 MONDO:0003847 False Pseudouridinuria and mental defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0002525 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009923 MONDO:0015327 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0002525 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009923 MONDO:0015327 False 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009924 MONDO:0024299 False vitamin D-dependent rickets, type 1 vitamin D-dependent rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009925 MONDO:0023603 False autosomal recessive inherited pseudoxanthoma elasticum hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009925 MONDO:0023603 False autosomal recessive inherited pseudoxanthoma elasticum hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009925 MONDO:0100091 False autosomal recessive inherited pseudoxanthoma elasticum inherited pseudoxanthoma elasticum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009926 MONDO:0002254 False autosomal recessive multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009926 MONDO:0002254 False autosomal recessive multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009926 MONDO:0006025 False autosomal recessive multiple pterygium syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009928 MONDO:0003847 False pulmonary alveolar microlithiasis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009928 MONDO:0003847 False pulmonary alveolar microlithiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009929 MONDO:0020683 False neonatal acute respiratory distress due to SP-B deficiency acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009931 MONDO:0003847 False pulmonary atresia-intact ventricular septum syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009931 MONDO:0003847 False pulmonary atresia-intact ventricular septum syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009932 MONDO:0003847 False pulmonary bullae causing pneumothorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0005087 False congenital pulmonary lymphangiectasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0006840 False congenital pulmonary lymphangiectasia lymphangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009933 MONDO:0019175 False congenital pulmonary lymphangiectasia primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009934 MONDO:0003847 False alveolar capillary dysplasia with misalignment of pulmonary veins hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009934 MONDO:0020295 False alveolar capillary dysplasia with misalignment of pulmonary veins congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009933 MONDO:0005087 False congenital pulmonary lymphangiectasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009933 MONDO:0006840 False congenital pulmonary lymphangiectasia lymphangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009933 MONDO:0019175 False congenital pulmonary lymphangiectasia primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009934 MONDO:0003847 False alveolar capillary dysplasia with misalignment of pulmonary veins hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009934 MONDO:0020295 False alveolar capillary dysplasia with misalignment of pulmonary veins congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009935 MONDO:0001999 False pulmonary hypertension, primary, autosomal recessive primary pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009936 MONDO:0005087 False familial primary pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009936 MONDO:0021147 False familial primary pulmonary hypoplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009937 MONDO:0003847 False pulmonary venoocclusive disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009937 MONDO:0005275 False pulmonary venoocclusive disease lung disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009937 MONDO:0003847 False pulmonary venoocclusive disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009937 MONDO:0005275 False pulmonary venoocclusive disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009938 MONDO:0003847 False pulmonic stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009938 MONDO:0017865 False pulmonic stenosis congenital pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009939 MONDO:0003847 False pulmonic stenosis and congenital nephrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009941 MONDO:0003847 False Pygmy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009942 MONDO:0005516 False pyknoachondrogenesis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009944 MONDO:0003847 False pyloric atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009945 MONDO:0015653 False pyridoxine-dependent epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009945 MONDO:0015653 False pyridoxine-dependent epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009945 MONDO:0100033 False pyridoxine-dependent epilepsy metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009946 MONDO:0003689 False hemolytic anemia due to pyrimidine 5' nucleotidase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009948 MONDO:0003847 False pyropoikilocytosis, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009950 MONDO:0017688 False pyruvate kinase deficiency of red cells disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009950 MONDO:0020585 False pyruvate kinase deficiency of red cells anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009948 MONDO:0003847 False pyropoikilocytosis, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009950 MONDO:0017688 False pyruvate kinase deficiency of red cells disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009950 MONDO:0020585 False pyruvate kinase deficiency of red cells anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009951 MONDO:0003847 False radiculoneuropathy, fatal neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0002320 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009952 MONDO:0005287 False radioulnar synostosis-developmental delay-hypotonia syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009952 MONDO:0017985 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009953 MONDO:0009332 False leukocyte adhesion deficiency type II congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009952 MONDO:0017985 False radioulnar synostosis-developmental delay-hypotonia syndrome congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009953 MONDO:0009332 False leukocyte adhesion deficiency type II congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009954 MONDO:0002081 False Ramon syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009954 MONDO:0003847 False Ramon syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009955 MONDO:0019713 False rapadilino syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009955 MONDO:0019713 False rapadilino syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009956 MONDO:0003847 False red skin pigment anomaly of new guinea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009957 MONDO:0003847 False Reese retinal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009958 MONDO:0100258 False adult Refsum disease phytanoyl-CoA hydroxylase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009959 MONDO:0100266 False peroxisome biogenesis disorder type 3B peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009961 MONDO:0003847 False renal and mullerian duct hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009964 MONDO:0019695 False short-rib thoracic dysplasia 9 with or without polydactyly acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009964 MONDO:0019695 False short-rib thoracic dysplasia 9 with or without polydactyly acromelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009964 MONDO:0100509 False short-rib thoracic dysplasia 9 with or without polydactyly IFT140-related recessive ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009965 MONDO:0003847 False Perlman syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009965 MONDO:0003847 False Perlman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009967 MONDO:0001909 False renal tubular acidosis 3 renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009968 MONDO:0018440 False renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss autosomal recessive distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009969 MONDO:0015161 False renal-genital-middle ear anomalies multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23972,8 +24007,8 @@ MONDO:0009970 MONDO:0021147 False renal tubular dysgenesis of genetic origin dis MONDO:0009970 MONDO:0100191 False renal tubular dysgenesis of genetic origin inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009971 MONDO:0700081 False respiratory distress syndrome in premature infants newborn respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009972 MONDO:0003847 False respiratory underresponsiveness to hypoxia and hypercapnia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009974 MONDO:0005071 False familial hemophagocytic lymphohistiocytosis type 1 nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009975 MONDO:0005089 False reticulum cell sarcoma sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009974 MONDO:0005071 False familial hemophagocytic lymphohistiocytosis type 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009975 MONDO:0005089 False reticulum cell sarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009976 MONDO:0003847 False retinal degeneration and epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009980 MONDO:0003847 False retinal telangiectasia and hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009982 MONDO:0003847 False retinitis pigmentosa inversa with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23987,48 +24022,48 @@ MONDO:0009992 MONDO:0000866 False myoglobinuria, acute recurrent, autosomal rece MONDO:0009992 MONDO:0020504 False myoglobinuria, acute recurrent, autosomal recessive hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020683 False myoglobinuria, acute recurrent, autosomal recessive acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0700223 False myoglobinuria, acute recurrent, autosomal recessive hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009993 MONDO:0003847 False embryonal rhabdomyosarcoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009998 MONDO:0018230 False Richieri Costa-Pereira syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009993 MONDO:0003847 False embryonal rhabdomyosarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009998 MONDO:0018230 False Richieri Costa-Pereira syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010000 MONDO:0003847 False rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010001 MONDO:0005328 False ectodermal dysplasia-blindness syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010002 MONDO:0015356 False Rothmund-Thomson syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010002 MONDO:0015356 False Rothmund-Thomson syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010002 MONDO:0021147 False Rothmund-Thomson syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010002 MONDO:0100137 False Rothmund-Thomson syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010002 MONDO:0100137 False Rothmund-Thomson syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010003 MONDO:0003847 False Rowley-Rosenberg syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010004 MONDO:0019054 False EEC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010004 MONDO:0019054 False EEC syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010004 MONDO:0024458 False EEC syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010006 MONDO:0004884 False Sandhoff disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010008 MONDO:0045020 False sarcosinemia glycine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010008 MONDO:0100477 False sarcosinemia disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0000508 False Schinzel-Giedion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010010 MONDO:0002320 False Schinzel-Giedion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010010 MONDO:0002320 False Schinzel-Giedion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010010 MONDO:0015160 False Schinzel-Giedion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010011 MONDO:0002320 False schizencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010011 MONDO:0002320 False schizencephaly congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010013 MONDO:0800080 False schneckenbecken dysplasia severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010015 MONDO:0019629 False anterior segment dysgenesis 7 sclerocornea UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010017 MONDO:0015905 False sea-blue histiocyte syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010015 MONDO:0019629 False anterior segment dysgenesis 7 sclerocornea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010017 MONDO:0015905 False sea-blue histiocyte syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010018 MONDO:0003847 False second metatarsal-metacarpal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010019 MONDO:0001341 False secretory component deficiency selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010020 MONDO:0018883 False congenital generalized lipodystrophy type 2 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010021 MONDO:0016027 False seizures, benign familial neonatal, autosomal recessive benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010021 MONDO:0016027 False seizures, benign familial neonatal, autosomal recessive benign neonatal seizures UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010022 MONDO:0003847 False senile plaque formation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010025 MONDO:0003847 False short stature-obesity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0005328 False SHORT syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010026 MONDO:0005328 False SHORT syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010026 MONDO:0015160 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0015161 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010026 MONDO:0015327 False SHORT syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010027 MONDO:0017706 False free sialic acid storage disease, infantile form disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010028 MONDO:0019366 False sialuria free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010030 MONDO:0001142 False Sjogren syndrome salivary gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010030 MONDO:0002254 False Sjogren syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010026 MONDO:0015161 False SHORT syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010026 MONDO:0015327 False SHORT syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010027 MONDO:0017706 False free sialic acid storage disease, infantile form disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010028 MONDO:0019366 False sialuria free sialic acid storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010030 MONDO:0001142 False Sjogren syndrome salivary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010030 MONDO:0002254 False Sjogren syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010030 MONDO:0024625 False Sjogren syndrome disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0002051 False Sjogren-Larsson syndrome integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0004884 False Sjogren-Larsson syndrome eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0015905 False Sjogren-Larsson syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010031 MONDO:0019046 False Sjogren-Larsson syndrome leukodystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010031 MONDO:0002051 False Sjogren-Larsson syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010031 MONDO:0004884 False Sjogren-Larsson syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010031 MONDO:0015905 False Sjogren-Larsson syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010031 MONDO:0019046 False Sjogren-Larsson syndrome leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010032 MONDO:0003847 False Sjogren-Larsson-like ichthyosis without CNS or eye involvement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010035 MONDO:0005328 False Smith-Lemli-Opitz syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010035 MONDO:0015905 False Smith-Lemli-Opitz syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010035 MONDO:0005328 False Smith-Lemli-Opitz syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010035 MONDO:0015905 False Smith-Lemli-Opitz syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010035 MONDO:0045017 False Smith-Lemli-Opitz syndrome cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010036 MONDO:0015170 False congenital secretory sodium diarrhea 3 congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010036 MONDO:0045032 False congenital secretory sodium diarrhea 3 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24045,12 +24080,12 @@ MONDO:0010057 MONDO:0001516 False spinal muscular atrophy, Ryukyuan type spinal MONDO:0010058 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal recessive spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0006025 False scapuloperoneal spinal muscular atrophy, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0024257 False scapuloperoneal spinal muscular atrophy, autosomal recessive hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010061 MONDO:0020047 False autosomal recessive cerebellar ataxia-blindness-deafness syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010061 MONDO:0020047 False autosomal recessive cerebellar ataxia-blindness-deafness syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0002254 False corneal-cerebellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0004884 False corneal-cerebellar syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010064 MONDO:0002254 False spastic ataxia-corneal dystrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010064 MONDO:0024458 False spastic ataxia-corneal dystrophy syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010065 MONDO:0008458 False spinocerebellar degeneration with slow eye movements spinocerebellar ataxia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010065 MONDO:0008458 False spinocerebellar degeneration with slow eye movements spinocerebellar ataxia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010066 MONDO:0021147 False familial isolated congenital asplenia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010067 MONDO:0003847 False splenoportal vascular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010069 MONDO:0002254 False spondylocostal dysostosis-anal and genitourinary malformations syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24060,7 +24095,7 @@ MONDO:0010069 MONDO:0018234 False spondylocostal dysostosis-anal and genitourina MONDO:0010070 MONDO:0018662 False brachyolmia type 1, Hobaek type autosomal recessive brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010074 MONDO:0018662 False brachyolmia type 1, toledo type autosomal recessive brachyolmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010076 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Irapa type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010078 MONDO:0016761 False spondyloperipheral dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010078 MONDO:0016761 False spondyloperipheral dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010080 MONDO:0002254 False familial infantile bilateral striatal necrosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0003847 False subaortic stenosis, membranous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010081 MONDO:0005561 False subaortic stenosis, membranous aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24068,7 +24103,7 @@ MONDO:0010081 MONDO:0021147 False subaortic stenosis, membranous disorder of dev MONDO:0010082 MONDO:0002254 False subaortic stenosis-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010084 MONDO:0003847 False sucrosuria, hiatus hernia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010085 MONDO:0002562 False Schilder disease demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010088 MONDO:0002051 False mucosulfatidosis integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010088 MONDO:0002051 False mucosulfatidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010092 MONDO:0800066 False Filippi syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010093 MONDO:0003847 False syndesmodysplasic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010096 MONDO:0003847 False tardive dyskinesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24078,91 +24113,91 @@ MONDO:0010098 MONDO:0003847 False taurodontism hereditary disease UNSUPPORTED-MI MONDO:0010098 MONDO:0006999 False taurodontism tooth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010100 MONDO:0004884 False Tay-Sachs disease eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010101 MONDO:0005172 False Teebi-Shaltout syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010102 MONDO:0019287 False taurodontia-absent teeth-sparse hair syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010102 MONDO:0019287 False taurodontia-absent teeth-sparse hair syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010103 MONDO:0003847 False teeth, fused hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010104 MONDO:0021147 False non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010105 MONDO:0004015 False teratoma, pineal pineal region teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010106 MONDO:0003847 False testes, rudimentary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010109 MONDO:0003847 False tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010110 MONDO:0003847 False tetraamelia-multiple malformations syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010110 MONDO:0003847 False tetraamelia-multiple malformations syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010112 MONDO:0003847 False thalamic degeneration, symmetric infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010114 MONDO:0017042 False thanatophoric dysplasia, Glasgow variant thanatophoric dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010117 MONDO:0800063 False 3M syndrome 1 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010118 MONDO:0006025 False inherited threoninemia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010118 MONDO:0019052 False inherited threoninemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0009332 False thrombocytopenia-absent radius syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010121 MONDO:0019713 False thrombocytopenia-absent radius syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0000009 False congenital thrombotic thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0009332 False congenital thrombotic thrombocytopenic purpura congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010122 MONDO:0100241 False congenital thrombotic thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0009332 False thrombocytopenia-absent radius syndrome congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010121 MONDO:0019713 False thrombocytopenia-absent radius syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0000009 False congenital thrombotic thrombocytopenic purpura inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0009332 False congenital thrombotic thrombocytopenic purpura congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010122 MONDO:0100241 False congenital thrombotic thrombocytopenic purpura inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010124 MONDO:0003847 False thumb, distal hyperextensibility of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010126 MONDO:0003847 False thymic aplasia with fetal death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010127 MONDO:0003847 False thymoma, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010127 MONDO:0006456 False thymoma, familial thymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010128 MONDO:0002254 False thyrocerebrorenal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010130 MONDO:0018381 False dihydropyrimidine dehydrogenase deficiency osteochondrosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010130 MONDO:0018383 False dihydropyrimidine dehydrogenase deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010130 MONDO:0018381 False dihydropyrimidine dehydrogenase deficiency osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010130 MONDO:0018383 False dihydropyrimidine dehydrogenase deficiency osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010131 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal recessive generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010132 MONDO:0005066 False familial thyroid dyshormonogenesis metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010132 MONDO:0005066 False familial thyroid dyshormonogenesis metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010133 MONDO:0045046 False thyroid dyshormonogenesis 2A inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010135 MONDO:0045046 False thyroid dyshormonogenesis 3 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010136 MONDO:0045046 False thyroid dyshormonogenesis 4 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010137 MONDO:0045046 False thyroid dyshormonogenesis 5 inherited thyroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010138 MONDO:0005364 False thyrotoxicosis Graves disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010140 MONDO:0003847 False isolated thyrotropin-releasing hormone deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010138 MONDO:0005364 False thyrotoxicosis Graves disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010140 MONDO:0003847 False isolated thyrotropin-releasing hormone deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010141 MONDO:0003847 False tiglic acidemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010145 MONDO:0003847 False tibia, absence of, with congenital deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010146 MONDO:0005093 False Kerion celsi skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010147 MONDO:0003847 False tongue, pigmented fungiform papillae of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010148 MONDO:0005087 False Mounier-Kuhn syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0005046 False transcobalamin II deficiency immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010148 MONDO:0005087 False Mounier-Kuhn syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0005046 False transcobalamin II deficiency immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010151 MONDO:0016790 False tricarboxylic acid cycle, defect of tricarboxylic acid cycle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010157 MONDO:0003847 False Tryptophanuria with dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010158 MONDO:0003847 False T-substance anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010159 MONDO:0005071 False mismatch repair cancer syndrome 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010159 MONDO:0015356 False mismatch repair cancer syndrome 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010160 MONDO:0005328 False tyrosinemia type II eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010159 MONDO:0005071 False mismatch repair cancer syndrome 1 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010159 MONDO:0015356 False mismatch repair cancer syndrome 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010160 MONDO:0005328 False tyrosinemia type II eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010163 MONDO:0003847 False Tyrosinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010164 MONDO:0019713 False phocomelia, Schinzel type non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010164 MONDO:0019713 False phocomelia, Schinzel type non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010165 MONDO:0003847 False ulna hypoplasia-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010166 MONDO:0003847 False ulnar agenesis and endocardial fibroelastosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010172 MONDO:0002254 False VACTERL with hydrocephalus syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010172 MONDO:0003847 False VACTERL with hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010174 MONDO:0003847 False Valinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010175 MONDO:0003847 False van Bogaert-Hozay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010176 MONDO:0013824 False orofaciodigital syndrome type 6 Joubert syndrome 17 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010176 MONDO:0013824 False orofaciodigital syndrome type 6 Joubert syndrome 17 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010177 MONDO:0003847 False vascular hyalinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010179 MONDO:0003847 False isolated right ventricular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010180 MONDO:0000359 False autosomal recessive spondylocostal dysostosis spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010180 MONDO:0006025 False autosomal recessive spondylocostal dysostosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010181 MONDO:0021189 False oculogastrointestinal muscular dystrophy intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010181 MONDO:0024458 False oculogastrointestinal muscular dystrophy disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010182 MONDO:0007272 False hypercarotenemia and vitamin A deficiency, autosomal recessive hereditary hypercarotenemia and vitamin A deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010182 MONDO:0007272 False hypercarotenemia and vitamin A deficiency, autosomal recessive hereditary hypercarotenemia and vitamin A deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010185 MONDO:0100463 False methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010186 MONDO:0019642 False vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010186 MONDO:0019642 False vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010186 MONDO:0800096 False vitamin D-dependent rickets, type 2A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010189 MONDO:0003847 False vitiligo, progressive, with intellectual disability and urethral duplication hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010192 MONDO:0019518 False Waardenburg syndrome type 4A Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010198 MONDO:0002254 False Wernicke-Korsakoff syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010198 MONDO:0002254 False Wernicke-Korsakoff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010199 MONDO:0005267 False white forelock with malformations heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010201 MONDO:0018298 False Winchester syndrome multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010203 MONDO:0000508 False intellectual disability, Wolff type syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010203 MONDO:0002320 False intellectual disability, Wolff type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010206 MONDO:0008686 False hypotrichosis 8 isolated familial wooly hair disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010206 MONDO:0008686 False hypotrichosis 8 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010206 MONDO:0018914 False hypotrichosis 8 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010207 MONDO:0002254 False wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010212 MONDO:0016354 False xeroderma pigmentosum group D xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010215 MONDO:0016354 False xeroderma pigmentosum group F xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010216 MONDO:0008926 False xeroderma pigmentosum group G COFS syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010216 MONDO:0016354 False xeroderma pigmentosum group G xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010212 MONDO:0016354 False xeroderma pigmentosum group D xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010215 MONDO:0016354 False xeroderma pigmentosum group F xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010216 MONDO:0008926 False xeroderma pigmentosum group G COFS syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010216 MONDO:0016354 False xeroderma pigmentosum group G xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010219 MONDO:0003847 False xylosidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010220 MONDO:0005087 False Young syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0005267 False CHIME syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010221 MONDO:0015905 False CHIME syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010221 MONDO:0005267 False CHIME syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010221 MONDO:0015905 False CHIME syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010221 MONDO:0024458 False CHIME syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010222 MONDO:0000425 False X-linked Opitz G/BBB syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010222 MONDO:0017138 False X-linked Opitz G/BBB syndrome Opitz G/BBB syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010223 MONDO:0010622 False ichthyosis, X-linked, without steroid sulfatase deficiency recessive X-linked ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010222 MONDO:0017138 False X-linked Opitz G/BBB syndrome Opitz G/BBB syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010223 MONDO:0010622 False ichthyosis, X-linked, without steroid sulfatase deficiency recessive X-linked ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010226 MONDO:0016674 False 46,XY sex reversal 2 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010227 MONDO:0100437 False retinitis pigmentosa 3 RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010229 MONDO:0019080 False alopecia, congenital alopecia totalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24170,8 +24205,8 @@ MONDO:0010232 MONDO:0014097 False intestinal pseudoobstruction, neuronal, chroni MONDO:0010232 MONDO:0017574 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010232 MONDO:0700007 False intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010237 MONDO:0002320 False X-linked intellectual disability-plagiocephaly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010237 MONDO:0020119 False X-linked intellectual disability-plagiocephaly syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010239 MONDO:0020491 False lissencephaly type 1 due to doublecortin gene mutation subcortical band heterotopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010237 MONDO:0020119 False X-linked intellectual disability-plagiocephaly syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010239 MONDO:0020491 False lissencephaly type 1 due to doublecortin gene mutation subcortical band heterotopia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010241 MONDO:0044749 False congenital stationary night blindness 2A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010241 MONDO:0700243 False congenital stationary night blindness 2A CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010243 MONDO:0000425 False X-linked immunoneurologic disorder X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24179,115 +24214,111 @@ MONDO:0010243 MONDO:0005071 False X-linked immunoneurologic disorder nervous sys MONDO:0010244 MONDO:0003847 False CGF1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010245 MONDO:0021155 False X-linked cone-rod dystrophy 2 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010246 MONDO:0100148 False developmental and epileptic encephalopathy, 9 X-linked complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010248 MONDO:0016761 False X-linked spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010248 MONDO:0016761 False X-linked spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010252 MONDO:0100195 False intellectual disability, X-linked, with panhypopituitarism X-linked intellectual disability with hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010255 MONDO:0020573 False diabetes mellitus, insulin-dependent, X-linked, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010257 MONDO:0023122 False prostate cancer, hereditary, X-linked 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010257 MONDO:0023122 False prostate cancer, hereditary, X-linked 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010260 MONDO:0003847 False arthrogryposis, congenital, lower limb, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010262 MONDO:0003847 False hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010264 MONDO:0002320 False X-linked adrenal hypoplasia congenita congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010264 MONDO:0016241 False X-linked adrenal hypoplasia congenita alternating hemiplegia of childhood UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010264 MONDO:0002320 False X-linked adrenal hypoplasia congenita congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010264 MONDO:0016241 False X-linked adrenal hypoplasia congenita alternating hemiplegia of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010265 MONDO:0010731 False Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010267 MONDO:0003847 False episodic muscle weakness, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010268 MONDO:0002254 False X-linked lissencephaly with abnormal genitalia syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010268 MONDO:0002254 False X-linked lissencephaly with abnormal genitalia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010269 MONDO:0020247 False Coats disease congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010270 MONDO:0002320 False syndromic X-linked intellectual disability 7 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010270 MONDO:0002320 False syndromic X-linked intellectual disability 7 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010271 MONDO:0002254 False X-linked myotubular myopathy-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010271 MONDO:0010683 False X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010271 MONDO:0010683 False X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010273 MONDO:0004952 False lymphoma, Hodgkin, X-linked pseudoautosomal Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010274 MONDO:0010108 False testicular germ cell tumor 1 testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010274 MONDO:0010108 False testicular germ cell tumor 1 testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010275 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Bieganski type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010276 MONDO:0003847 False radioulnar synostosis, radial ray abnormalities, and severe malformations in the male hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010277 MONDO:0002320 False syndromic X-linked intellectual disability Shashi type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010278 MONDO:0002254 False Christianson syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010277 MONDO:0002320 False syndromic X-linked intellectual disability Shashi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010278 MONDO:0002254 False Christianson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010280 MONDO:0000728 False ptosis, hereditary congenital 2 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010282 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, X-linked mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010283 MONDO:0002320 False syndromic X-linked intellectual disability Lubs type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010284 MONDO:0002254 False Armfield syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010285 MONDO:0002320 False syndromic X-linked intellectual disability Abidi type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010286 MONDO:0002320 False syndromic X-linked intellectual disability Siderius type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010283 MONDO:0002320 False syndromic X-linked intellectual disability Lubs type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010284 MONDO:0002254 False Armfield syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010285 MONDO:0002320 False syndromic X-linked intellectual disability Abidi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010286 MONDO:0002320 False syndromic X-linked intellectual disability Siderius type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010288 MONDO:0005495 False adrenomyodystrophy adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010292 MONDO:0800462 False Uruguay Faciocardiomusculoskeletal syndrome FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010293 MONDO:0016535 False ectodermal dysplasia and immune deficiency hypohidrotic ectodermal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010293 MONDO:0016535 False ectodermal dysplasia and immune deficiency hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010295 MONDO:0019313 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010295 MONDO:0100162 False anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010297 MONDO:0002010 False FG syndrome 2 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010298 MONDO:0002254 False Lesch-Nyhan syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010302 MONDO:0005328 False Ito hypomelanosis eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010302 MONDO:0019287 False Ito hypomelanosis ectodermal dysplasia syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010298 MONDO:0002254 False Lesch-Nyhan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010302 MONDO:0005328 False Ito hypomelanosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010302 MONDO:0019287 False Ito hypomelanosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0019290 False Ito hypomelanosis hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010304 MONDO:0000162 False Graves disease, susceptibility to, X-linked 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010305 MONDO:0002320 False creatine transporter deficiency congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010305 MONDO:0015327 False creatine transporter deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010306 MONDO:0002320 False X-linked intellectual disability, Cabezas type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010308 MONDO:0100241 False thrombocytopenia, X-linked, with or without dyserythropoietic anemia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010305 MONDO:0002320 False creatine transporter deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010305 MONDO:0015327 False creatine transporter deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010306 MONDO:0002320 False X-linked intellectual disability, Cabezas type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010308 MONDO:0100241 False thrombocytopenia, X-linked, with or without dyserythropoietic anemia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010312 MONDO:0003847 False radial ray deficiency, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010314 MONDO:0020340 False polymicrogyria, bilateral perisylvian, X-linked bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010316 MONDO:0002010 False FG syndrome 3 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010318 MONDO:0002010 False FG syndrome 4 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010319 MONDO:0100146 False syndromic X-linked intellectual disability Hedera type ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010323 MONDO:0002254 False Atkin-Flaitz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010327 MONDO:0004069 False HSD10 mitochondrial disease inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010327 MONDO:0005071 False HSD10 mitochondrial disease nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010328 MONDO:0003847 False alpha-thalassemia-myelodysplastic syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010327 MONDO:0004069 False HSD10 mitochondrial disease inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010327 MONDO:0005071 False HSD10 mitochondrial disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010328 MONDO:0003847 False alpha-thalassemia-myelodysplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010331 MONDO:0020573 False coronary heart disease, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010332 MONDO:0002320 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010332 MONDO:0020119 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010332 MONDO:0020119 False X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010333 MONDO:0021147 False corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010334 MONDO:0000761 False severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010334 MONDO:0000761 False severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010335 MONDO:0021155 False X-linked cone-rod dystrophy 3 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010335 MONDO:0700243 False X-linked cone-rod dystrophy 3 CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010339 MONDO:0020119 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010339 MONDO:0020119 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010340 MONDO:0100440 False Asperger syndrome, X-linked, susceptibility to, 1 Asperger syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010348 MONDO:0020573 False dyslexia, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010353 MONDO:0002254 False deafness-intellectual disability, Martin-Probst type syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010354 MONDO:0020119 False Allan-Herndon-Dudley syndrome X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010355 MONDO:0002320 False syndromic X-linked intellectual disability Claes-Jensen type congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010353 MONDO:0002254 False deafness-intellectual disability, Martin-Probst type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010354 MONDO:0020119 False Allan-Herndon-Dudley syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010355 MONDO:0002320 False syndromic X-linked intellectual disability Claes-Jensen type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010358 MONDO:0020720 False hypophosphatemic rickets, X-linked recessive X-linked hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010358 MONDO:0800096 False hypophosphatemic rickets, X-linked recessive abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010360 MONDO:0017279 False parkinson disease 12 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010364 MONDO:0020119 False X-linked intellectual disability-retinitis pigmentosa syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010366 MONDO:0002010 False FG syndrome 5 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010364 MONDO:0020119 False X-linked intellectual disability-retinitis pigmentosa syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010370 MONDO:0019713 False Cornelia de Lange syndrome 2 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010371 MONDO:0700243 False Aland island eye disease CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010375 MONDO:0021022 False developmental and epileptic encephalopathy, 8 hereditary hyperekplexia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010375 MONDO:0021022 False developmental and epileptic encephalopathy, 8 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010375 MONDO:0100148 False developmental and epileptic encephalopathy, 8 X-linked complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010378 MONDO:0019586 False X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked nonsyndromic hearing loss UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010378 MONDO:0019586 False X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010380 MONDO:0003847 False cataract, ataxia, short stature, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010381 MONDO:0003847 False Tn polyagglutination syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010382 MONDO:0002254 False fragile X-associated tremor/ataxia syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010381 MONDO:0003847 False Tn polyagglutination syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010382 MONDO:0002254 False fragile X-associated tremor/ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010386 MONDO:0100162 False immunodeficiency 33 IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010388 MONDO:0015587 False rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked rolandic epilepsy-speech dyspraxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010388 MONDO:0015653 False rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010391 MONDO:0019803 False angioma serpiginosum, X-linked angioma serpiginosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010392 MONDO:0017688 False glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010396 MONDO:0017746 False developmental and epileptic encephalopathy, 2 atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010396 MONDO:0018097 False developmental and epileptic encephalopathy, 2 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010392 MONDO:0017688 False glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010396 MONDO:0017746 False developmental and epileptic encephalopathy, 2 atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010396 MONDO:0018097 False developmental and epileptic encephalopathy, 2 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010396 MONDO:0100039 False developmental and epileptic encephalopathy, 2 CDKL5 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010397 MONDO:0100198 False severe neonatal-onset encephalopathy with microcephaly Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010400 MONDO:0000727 False X-linked scapuloperoneal muscular dystrophy scapuloperoneal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010400 MONDO:0800462 False X-linked scapuloperoneal muscular dystrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010401 MONDO:0010680 False X-linked myopathy with postural muscle atrophy X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010401 MONDO:0010680 False X-linked myopathy with postural muscle atrophy X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010401 MONDO:0800462 False X-linked myopathy with postural muscle atrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0043209 False albinism-hearing loss syndrome albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0100118 False albinism-hearing loss syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010405 MONDO:0023122 False prostate cancer, hereditary, X-linked 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010405 MONDO:0023122 False prostate cancer, hereditary, X-linked 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010408 MONDO:0800066 False syndactyly-telecanthus-anogenital and renal malformations syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010410 MONDO:0005339 False alopecia, androgenetic, 2 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010412 MONDO:0020119 False X-linked intellectual disability-craniofacioskeletal syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010412 MONDO:0020119 False X-linked intellectual disability-craniofacioskeletal syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010414 MONDO:0019948 False myopathy, reducing body, X-linked, early-onset, severe reducing body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010414 MONDO:0800462 False myopathy, reducing body, X-linked, early-onset, severe FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010415 MONDO:0019948 False myopathy, reducing body, X-linked, childhood-onset reducing body myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010415 MONDO:0019948 False myopathy, reducing body, X-linked, childhood-onset reducing body myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010415 MONDO:0800462 False myopathy, reducing body, X-linked, childhood-onset FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010416 MONDO:0003847 False deafness, cataract, retinitis pigmentosa, and sperm abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010420 MONDO:0000425 False X-linked erythropoietic protoporphyria X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010433 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 15 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010435 MONDO:0700230 False nystagmus 6, congenital, X-linked GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010436 MONDO:0010283 False chromosome Xq28 duplication syndrome syndromic X-linked intellectual disability Lubs type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010436 MONDO:0010283 False chromosome Xq28 duplication syndrome syndromic X-linked intellectual disability Lubs type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010439 MONDO:0003847 False cardiomyopathy, fatal fetal, due to myocardial calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010441 MONDO:0000508 False CK syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010441 MONDO:0000508 False CK syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010441 MONDO:0021147 False CK syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010443 MONDO:0015993 False macular degeneration, X-linked atrophic cone-rod dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010443 MONDO:0015993 False macular degeneration, X-linked atrophic cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010443 MONDO:0100437 False macular degeneration, X-linked atrophic RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010444 MONDO:0100089 False X-linked dyserythropoetic anemia with abnormal platelets and neutropenia GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010446 MONDO:0005328 False X-linked cone dysfunction syndrome with myopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24296,49 +24327,49 @@ MONDO:0010448 MONDO:0015160 False moyamoya angiopathy-short stature-facial dysmo MONDO:0010456 MONDO:0003008 False renal cell carcinoma, Xp11-associated hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010456 MONDO:0017886 False renal cell carcinoma, Xp11-associated MIT family translocation renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010457 MONDO:0100124 False Ogden syndrome NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0002320 False multiple congenital anomalies-hypotonia-seizures syndrome 2 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010466 MONDO:0015905 False multiple congenital anomalies-hypotonia-seizures syndrome 2 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010466 MONDO:0002320 False multiple congenital anomalies-hypotonia-seizures syndrome 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010466 MONDO:0015905 False multiple congenital anomalies-hypotonia-seizures syndrome 2 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010471 MONDO:0019713 False Cornelia de Lange syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010472 MONDO:0002320 False developmental and epileptic encephalopathy, 36 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010472 MONDO:0002320 False developmental and epileptic encephalopathy, 36 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010477 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, MKB type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0002320 False blepharophimosis - intellectual disability syndrome, MKB type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010477 MONDO:0100000 False blepharophimosis - intellectual disability syndrome, MKB type MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010480 MONDO:0000105 False anemia, nonspherocytic hemolytic, due to G6PD deficiency anemia, nonspherocytic hemolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010480 MONDO:0019231 False anemia, nonspherocytic hemolytic, due to G6PD deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010480 MONDO:0019231 False anemia, nonspherocytic hemolytic, due to G6PD deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010480 MONDO:0020585 False anemia, nonspherocytic hemolytic, due to G6PD deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010481 MONDO:0005492 False angioedema urticaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010481 MONDO:0019293 False angioedema skin vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010482 MONDO:0021095 False X-linked parkinsonism-spasticity syndrome parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010481 MONDO:0005492 False angioedema urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010481 MONDO:0019293 False angioedema skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010482 MONDO:0021095 False X-linked parkinsonism-spasticity syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010482 MONDO:0100146 False X-linked parkinsonism-spasticity syndrome ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010483 MONDO:0020119 False X-linked intellectual disability, Cantagrel type X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010490 MONDO:0015327 False SSR4-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010483 MONDO:0020119 False X-linked intellectual disability, Cantagrel type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010490 MONDO:0015327 False SSR4-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0000425 False X-linked acrogigantism due to Xq26 microduplication X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0017010 False X-linked acrogigantism due to Xq26 microduplication partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010496 MONDO:0002320 False X-linked intellectual disability-short stature-overweight syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010497 MONDO:0019181 False intellectual disability, X-linked 102 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010501 MONDO:0002320 False syndromic X-linked intellectual disability 34 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010516 MONDO:0010263 False midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010518 MONDO:0015131 False Wiskott-Aldrich syndrome combined immunodeficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010496 MONDO:0002320 False X-linked intellectual disability-short stature-overweight syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010497 MONDO:0019181 False intellectual disability, X-linked 102 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010501 MONDO:0002320 False syndromic X-linked intellectual disability 34 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010516 MONDO:0010263 False midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010518 MONDO:0015131 False Wiskott-Aldrich syndrome combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010519 MONDO:0016980 False alpha thalassemia-X-linked intellectual disability syndrome ATR-X-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010521 MONDO:0015048 False amelogenesis imperfecta type 1E amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010523 MONDO:0002254 False X-linked reticulate pigmentary disorder syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010523 MONDO:0002254 False X-linked reticulate pigmentary disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010523 MONDO:0100118 False X-linked reticulate pigmentary disorder hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010524 MONDO:0044970 False X-linked sideroblastic anemia with ataxia mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010525 MONDO:0019351 False neural tube defects, X-linked isolated spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010528 MONDO:0002436 False anosmia nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010532 MONDO:0002320 False infantile-onset X-linked spinal muscular atrophy congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010533 MONDO:0002254 False Arts syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010532 MONDO:0002320 False infantile-onset X-linked spinal muscular atrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010533 MONDO:0002254 False Arts syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010535 MONDO:0005093 False Bazex-Dupre-Christol syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010536 MONDO:0003847 False tubulin, beta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0000425 False X-linked mandibulofacial dysostosis X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010539 MONDO:0002254 False X-linked mandibulofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010539 MONDO:0015483 False X-linked mandibulofacial dysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010539 MONDO:0018751 False X-linked mandibulofacial dysostosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010539 MONDO:0015483 False X-linked mandibulofacial dysostosis mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010539 MONDO:0018751 False X-linked mandibulofacial dysostosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010540 MONDO:0003847 False bullous dystrophy, macular type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010541 MONDO:0002185 False X-linked calvarial hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010542 MONDO:0016147 False dilated cardiomyopathy 3B qualitative or quantitative defects of dystrophin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010543 MONDO:0015905 False Barth syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010544 MONDO:0011060 False cataract 40 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010543 MONDO:0015905 False Barth syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010544 MONDO:0011060 False cataract 40 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010545 MONDO:0021147 False Nance-Horan syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010546 MONDO:0003847 False central incisors, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010552 MONDO:0003847 False Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24346,238 +24377,237 @@ MONDO:0010553 MONDO:0003847 False Charcot-Marie-Tooth peroneal muscular atrophy MONDO:0010555 MONDO:0010556 False X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010556 MONDO:0015775 False X-linked chondrodysplasia punctata non-rhizomelic chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010556 MONDO:0019240 False X-linked chondrodysplasia punctata sterol biosynthesis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010557 MONDO:0000425 False choroideremia X-linked disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010557 MONDO:0019118 False choroideremia inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010557 MONDO:0043218 False choroideremia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010558 MONDO:0019118 False choroideremia-deafness-obesity syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010561 MONDO:0020119 False Coffin-Lowry syndrome X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010557 MONDO:0000425 False choroideremia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010557 MONDO:0019118 False choroideremia inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010557 MONDO:0043218 False choroideremia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010558 MONDO:0019118 False choroideremia-deafness-obesity syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010561 MONDO:0020119 False Coffin-Lowry syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010562 MONDO:0021147 False colonic atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010563 MONDO:0021155 False blue cone monochromacy X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010564 MONDO:0000014 False red-green color blindness colorblindness, partial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010564 MONDO:0003847 False red-green color blindness hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010565 MONDO:0003847 False red color blindness hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010564 MONDO:0003847 False red-green color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010565 MONDO:0003847 False red color blindness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010566 MONDO:0021155 False X-linked cone-rod dystrophy 1 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010566 MONDO:0100437 False X-linked cone-rod dystrophy 1 RPGR-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010567 MONDO:0000425 False cone dystrophy, X-linked, with tapetal-like sheen X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010567 MONDO:0000455 False cone dystrophy, X-linked, with tapetal-like sheen cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010568 MONDO:0021147 False Aicardi syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010568 MONDO:0700092 False Aicardi syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010568 MONDO:0700092 False Aicardi syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010569 MONDO:0003847 False X-linked complicated corpus callosum dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010570 MONDO:0018230 False craniofrontonasal syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010570 MONDO:0018230 False craniofrontonasal syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010570 MONDO:0021635 False craniofrontonasal syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010571 MONDO:0019027 False otopalatodigital syndrome type 2 otopalatodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010572 MONDO:0015160 False occipital horn syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010572 MONDO:0015327 False occipital horn syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010572 MONDO:0100237 False occipital horn syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010572 MONDO:0015327 False occipital horn syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010572 MONDO:0100237 False occipital horn syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010573 MONDO:0003847 False cutis verticis gyrata, thyroid aplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010574 MONDO:0002320 False syndromic X-linked intellectual disability 5 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010574 MONDO:0002320 False syndromic X-linked intellectual disability 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010575 MONDO:0002254 False deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010576 MONDO:0002467 False X-linked mixed hearing loss with perilymphatic gusher inner ear disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010576 MONDO:0002467 False X-linked mixed hearing loss with perilymphatic gusher inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010576 MONDO:0018751 False X-linked mixed hearing loss with perilymphatic gusher hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0000942 False X-linked corneal dermoid corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0002254 False X-linked corneal dermoid syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0000569 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune disorder of endocrine system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0000605 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hypersensitivity reaction disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010580 MONDO:0002254 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010580 MONDO:0000569 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010580 MONDO:0000605 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010580 MONDO:0002254 False immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010583 MONDO:0000425 False Dyggve-Melchior-Clausen syndrome, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010583 MONDO:0009130 False Dyggve-Melchior-Clausen syndrome, X-linked Dyggve-Melchior-Clausen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010583 MONDO:0009130 False Dyggve-Melchior-Clausen syndrome, X-linked Dyggve-Melchior-Clausen disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010584 MONDO:0100152 False dyskeratosis congenita, X-linked DKC1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010586 MONDO:0000425 False X-linked Ehlers-Danlos syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010586 MONDO:0000425 False X-linked Ehlers-Danlos syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010587 MONDO:0000425 False epidermodysplasia verruciformis, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010587 MONDO:0009176 False epidermodysplasia verruciformis, X-linked epidermodysplasia verruciformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010589 MONDO:0002010 False Aarskog-Scott syndrome, X-linked FG syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010590 MONDO:0002010 False FG syndrome 1 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010589 MONDO:0002010 False Aarskog-Scott syndrome, X-linked FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010590 MONDO:0100000 False FG syndrome 1 MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010592 MONDO:0020119 False focal dermal hypoplasia X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010595 MONDO:0004983 False Sertoli cell-only syndrome spermatogenic failure UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010592 MONDO:0020119 False focal dermal hypoplasia X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010595 MONDO:0004983 False Sertoli cell-only syndrome spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010596 MONDO:0018904 False membranoproliferative glomerulonephritis, X-linked primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010597 MONDO:0003847 False glutamyl ribose-5-phosphate storage disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010598 MONDO:0020693 False glycogen storage disease IXa1 glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010599 MONDO:0003847 False granulomas, congenital cerebral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010602 MONDO:0002243 False hemophilia A hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010603 MONDO:0010602 False hemophilia A with vascular abnormality hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010604 MONDO:0002243 False hemophilia B hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010602 MONDO:0002243 False hemophilia A hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010603 MONDO:0010602 False hemophilia A with vascular abnormality hemophilia A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010604 MONDO:0002243 False hemophilia B hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010605 MONDO:0003847 False hemopoietic proliferation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010608 MONDO:0003847 False Hhhh syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010610 MONDO:0002320 False holoprosencephaly-hypokinesia-congenital contractures syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010611 MONDO:0000425 False X-linked hydrocephalus with stenosis of the aqueduct of Sylvius X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010612 MONDO:0002254 False hydrocephaly-cerebellar agenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010618 MONDO:0007796 False familial isolated hypoparathyroidism due to agenesis of parathyroid gland hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010618 MONDO:0007796 False familial isolated hypoparathyroidism due to agenesis of parathyroid gland hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010619 MONDO:0020720 False X-linked dominant hypophosphatemic rickets X-linked hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010619 MONDO:0800096 False X-linked dominant hypophosphatemic rickets abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010620 MONDO:0009071 False hypouricemia, familial renal, due to tubular hypersecretion hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0000631 False CHILD syndrome bone benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0000631 False CHILD syndrome bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010621 MONDO:0005073 False CHILD syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010621 MONDO:0015905 False CHILD syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010621 MONDO:0015905 False CHILD syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0023603 False CHILD syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010621 MONDO:0100118 False CHILD syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010622 MONDO:0019256 False recessive X-linked ichthyosis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010622 MONDO:0019256 False recessive X-linked ichthyosis sterol metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010623 MONDO:0003847 False ichthyosis and male hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010625 MONDO:0003778 False immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010627 MONDO:0021094 False X-linked lymphoproliferative syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010627 MONDO:0021094 False X-linked lymphoproliferative syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010628 MONDO:0003847 False immunoglobulin M, level of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010629 MONDO:0003847 False impacted teeth, multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010630 MONDO:0003847 False imprinting gene related to retinoblastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010631 MONDO:0020247 False incontinentia pigmenti congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010632 MONDO:0018097 False developmental and epileptic encephalopathy, 1 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010632 MONDO:0018097 False developmental and epileptic encephalopathy, 1 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010633 MONDO:0005283 False iris hypoplasia with glaucoma retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010633 MONDO:0018174 False iris hypoplasia with glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010634 MONDO:0003847 False jaundice, familial obstructive, of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010635 MONDO:0018800 False hypogonadotropic hypogonadism 1 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010635 MONDO:0018800 False hypogonadotropic hypogonadism 1 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010636 MONDO:0003847 False Kallmann syndrome with spastic paraplegia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010638 MONDO:0002254 False keratosis follicularis-dwarfism-cerebral atrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010639 MONDO:0002254 False laryngeal abductor paralysis-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010640 MONDO:0020573 False Leber optic atrophy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010641 MONDO:0005240 False X-linked diffuse leiomyomatosis-Alport syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010642 MONDO:0010298 False Lesch-Nyhan phenotype with normal HGPRT Lesch-Nyhan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010642 MONDO:0010298 False Lesch-Nyhan phenotype with normal HGPRT Lesch-Nyhan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010643 MONDO:0020683 False acute leukemia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010644 MONDO:0003634 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis proteinuria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010644 MONDO:0003634 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis proteinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010644 MONDO:0100191 False proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010645 MONDO:0005328 False oculocerebrorenal syndrome eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010645 MONDO:0005328 False oculocerebrorenal syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010646 MONDO:0000425 False macular dystrophy, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010646 MONDO:0020242 False macular dystrophy, X-linked hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010648 MONDO:0000693 False major affective disorder 2 bipolar II disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010648 MONDO:0003847 False major affective disorder 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010649 MONDO:0009576 False isolated congenital megalocornea megalocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010650 MONDO:0020119 False Melnick-Needles syndrome X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010651 MONDO:0002254 False Menkes disease syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010652 MONDO:0020119 False X-linked intellectual disability-seizures-psoriasis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010655 MONDO:0002320 False X-linked intellectual disability with marfanoid habitus congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010649 MONDO:0009576 False isolated congenital megalocornea megalocornea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010650 MONDO:0020119 False Melnick-Needles syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010651 MONDO:0002254 False Menkes disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010652 MONDO:0020119 False X-linked intellectual disability-seizures-psoriasis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010655 MONDO:0002320 False X-linked intellectual disability with marfanoid habitus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010655 MONDO:0100000 False X-linked intellectual disability with marfanoid habitus MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010662 MONDO:0002254 False paraplegia-intellectual disability-hyperkeratosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010663 MONDO:0016980 False intellectual disability-hypotonic facies syndrome, X-linked, 1 ATR-X-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010664 MONDO:0800159 False syndromic X-linked intellectual disability Snyder type disorder of polyamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010668 MONDO:0020119 False skeletal dysplasia-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010670 MONDO:0020119 False X-linked intellectual disability-spastic quadriparesis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010668 MONDO:0020119 False skeletal dysplasia-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010670 MONDO:0020119 False X-linked intellectual disability-spastic quadriparesis syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010671 MONDO:0100124 False microphthalmia, syndromic 1 NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010672 MONDO:0100118 False linear skin defects with multiple congenital anomalies hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010673 MONDO:0003847 False modifier, X-linked, for Neurofunctional defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010674 MONDO:0002254 False mucopolysaccharidosis type 2 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010674 MONDO:0002254 False mucopolysaccharidosis type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010675 MONDO:0020121 False muscular dystrophy, cardiac type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010676 MONDO:0020121 False muscular dystrophy, Hemizygous lethal type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010677 MONDO:0020121 False muscular dystrophy, Mabry type muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010678 MONDO:0020121 False muscular dystrophy, progressive Pectorodorsal muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010680 MONDO:0000425 False X-linked Emery-Dreifuss muscular dystrophy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010680 MONDO:0021106 False X-linked Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010680 MONDO:0021106 False X-linked Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010681 MONDO:0003847 False myelolymphatic insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010683 MONDO:0000425 False X-linked myotubular myopathy X-linked disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010683 MONDO:0000425 False X-linked myotubular myopathy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010687 MONDO:0008171 False nephrolithiasis, X-linked recessive, with renal failure nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010687 MONDO:0100191 False nephrolithiasis, X-linked recessive, with renal failure inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010690 MONDO:0044749 False congenital stationary night blindness 1A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010690 MONDO:0800407 False congenital stationary night blindness 1A NYX-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010691 MONDO:0020247 False Norrie disease congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010692 MONDO:0003847 False nuclear ribonucleic acid hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010694 MONDO:0005712 False nystagmus, myoclonic congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010694 MONDO:0005712 False nystagmus, myoclonic congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010695 MONDO:0003847 False occipital hair, white lock of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010696 MONDO:0003847 False omphalocele, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010696 MONDO:0019015 False omphalocele, X-linked omphalocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010697 MONDO:0003847 False ophthalmoplegia, external, and myopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010700 MONDO:0003847 False optic atrophy--spastic paraplegia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010702 MONDO:0005308 False orofaciodigital syndrome I ciliopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010702 MONDO:0005308 False orofaciodigital syndrome I ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010702 MONDO:0100500 False orofaciodigital syndrome I Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010703 MONDO:0800153 False ornithine carbamoyltransferase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010704 MONDO:0002254 False otopalatodigital syndrome type 1 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010704 MONDO:0002254 False otopalatodigital syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010704 MONDO:0019027 False otopalatodigital syndrome type 1 otopalatodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010707 MONDO:0003847 False Paine syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010708 MONDO:0002254 False Pallister-W syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010709 MONDO:0020119 False early-onset parkinsonism-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010709 MONDO:0021095 False early-onset parkinsonism-intellectual disability syndrome parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010709 MONDO:0020119 False early-onset parkinsonism-intellectual disability syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010709 MONDO:0021095 False early-onset parkinsonism-intellectual disability syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010710 MONDO:0003847 False Pierre Robin syndrome-faciodigital anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010711 MONDO:0005267 False TARP syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010711 MONDO:0005267 False TARP syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010716 MONDO:0000425 False X-linked lethal multiple pterygium syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010716 MONDO:0009668 False X-linked lethal multiple pterygium syndrome lethal multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010716 MONDO:0009668 False X-linked lethal multiple pterygium syndrome lethal multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010718 MONDO:0003847 False absent radius-anogenital anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010719 MONDO:0003847 False radiation sensitivity of natural killer activity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010721 MONDO:0003847 False reticuloendotheliosis, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010722 MONDO:0019118 False X-linked retinal dysplasia inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010722 MONDO:0019118 False X-linked retinal dysplasia inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010723 MONDO:0100442 False retinitis pigmentosa 2 RP2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010725 MONDO:0019118 False X-linked retinoschisis inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010725 MONDO:0019118 False X-linked retinoschisis inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010725 MONDO:0020248 False X-linked retinoschisis vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010726 MONDO:0002254 False Rett syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010726 MONDO:0002254 False Rett syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010726 MONDO:0100500 False Rett syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010727 MONDO:0008394 False Russell-silver syndrome, X-linked Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010727 MONDO:0008394 False Russell-silver syndrome, X-linked Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010728 MONDO:0002254 False SCARF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010729 MONDO:0020119 False X-linked intellectual disability, Schimke type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010729 MONDO:0020119 False X-linked intellectual disability, Schimke type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010730 MONDO:0044200 False combined immunodeficiency, X-linked T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010731 MONDO:0002254 False Simpson-Golabi-Behmel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010731 MONDO:0002254 False Simpson-Golabi-Behmel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010734 MONDO:0003847 False spatial visualization, aptitude for hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010739 MONDO:0003847 False Taqi polymorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010740 MONDO:0003847 False taurodontism, microdontia, and dens invaginatus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010744 MONDO:0003847 False thrombocytopenia with elevated serum IgA and renal disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010745 MONDO:0100089 False beta-thalassemia-X-linked thrombocytopenia syndrome GATA1-Related X-Linked Cytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010746 MONDO:0003847 False thumbs, congenital Clasped hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010747 MONDO:0021095 False X-linked dystonia-parkinsonism parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010747 MONDO:0021095 False X-linked dystonia-parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010748 MONDO:0002254 False torticollis-keloids-cryptorchidism-renal dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010748 MONDO:0021147 False torticollis-keloids-cryptorchidism-renal dysplasia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010749 MONDO:0002254 False trigonocephaly-short stature-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010750 MONDO:0002254 False ulnar hypoplasia-split foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010750 MONDO:0003847 False ulnar hypoplasia-split foot syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010751 MONDO:0003847 False unique green phenomenon hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010752 MONDO:0010172 False VACTERL association, X-linked, with or without hydrocephalus VACTERL with hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010753 MONDO:0020289 False cardiac valvular dysplasia, X-linked congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010752 MONDO:0010172 False VACTERL association, X-linked, with or without hydrocephalus VACTERL with hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010753 MONDO:0020289 False cardiac valvular dysplasia, X-linked congenital tricuspid malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010754 MONDO:0002254 False van den Bosch syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010755 MONDO:0017329 False vesicoureteral reflux, X-linked familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010755 MONDO:0017329 False vesicoureteral reflux, X-linked familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010756 MONDO:0019565 False Von Willebrand disease, X-linked form hereditary von Willebrand disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010757 MONDO:0003847 False widow's peak syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010758 MONDO:0002320 False Wieacker-Wolff syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010758 MONDO:0002320 False Wieacker-Wolff syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010758 MONDO:0100500 False Wieacker-Wolff syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010759 MONDO:0001029 False Wildervanck syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010759 MONDO:0001029 False Wildervanck syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010759 MONDO:0002254 False Wildervanck syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010760 MONDO:0003847 False XH antigen hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010762 MONDO:0004952 False lymphoma, Hodgkin, Y-linked pseudoautosomal Hodgkins lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010763 MONDO:0015607 False spermatogenic failure, Y-linked, 1 partial chromosome Y deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010765 MONDO:0021147 False 46,XY complete gonadal dysgenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010765 MONDO:0024573 False 46,XY complete gonadal dysgenesis familial hypertrophic cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010765 MONDO:0024573 False 46,XY complete gonadal dysgenesis familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010767 MONDO:0015607 False spermatogenic failure, Y-linked, 2 partial chromosome Y deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010768 MONDO:0002149 False gonadoblastoma reproductive system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010768 MONDO:0002259 False gonadoblastoma gonadal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010768 MONDO:0005565 False gonadoblastoma blastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010768 MONDO:0005853 False gonadoblastoma malignant mixed neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010768 MONDO:0006055 False gonadoblastoma sex cord-stromal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010768 MONDO:0002149 False gonadoblastoma reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010768 MONDO:0002259 False gonadoblastoma gonadal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010768 MONDO:0005565 False gonadoblastoma blastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010768 MONDO:0005853 False gonadoblastoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010768 MONDO:0006055 False gonadoblastoma sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010769 MONDO:0003847 False hairy ears, Y-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010770 MONDO:0003847 False ubiquitin-activating enzyme, Y-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010772 MONDO:0010788 False Leber optic atrophy and dystonia Leber hereditary optic neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010773 MONDO:0009637 False mitochondrial myopathy with diabetes inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010774 MONDO:0010080 False striatonigral degeneration, infantile, mitochondrial familial infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010772 MONDO:0010788 False Leber optic atrophy and dystonia Leber hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010773 MONDO:0009637 False mitochondrial myopathy with diabetes inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010774 MONDO:0010080 False striatonigral degeneration, infantile, mitochondrial familial infantile bilateral striatal necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010776 MONDO:0003847 False hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010777 MONDO:0003847 False cardiomyopathy, infantile hypertrophic hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010777 MONDO:0003847 False cardiomyopathy, infantile hypertrophic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010778 MONDO:0003847 False cyclic vomiting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010778 MONDO:0100070 False cyclic vomiting syndrome neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010779 MONDO:0016297 False mitochondrial non-syndromic sensorineural hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010779 MONDO:0016298 False mitochondrial non-syndromic sensorineural hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010780 MONDO:0009637 False mitochondrial myopathy with reversible cytochrome C oxidase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010780 MONDO:0009637 False mitochondrial myopathy with reversible cytochrome C oxidase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010781 MONDO:0021190 False ataxia and polyneuropathy, adult-onset DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010784 MONDO:0003847 False chloramphenicol toxicity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010786 MONDO:0005020 False chronic diarrhea with villous atrophy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0002254 False Kearns-Sayre syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010787 MONDO:0002320 False Kearns-Sayre syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010787 MONDO:0002254 False Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010787 MONDO:0002320 False Kearns-Sayre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010787 MONDO:0024458 False Kearns-Sayre syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0004884 False Leber hereditary optic neuropathy eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0016333 False Leber hereditary optic neuropathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010788 MONDO:0043878 False Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010789 MONDO:0002254 False MELAS syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0002254 False MERRF syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0002320 False MERRF syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0016022 False MERRF syndrome early myoclonic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0004884 False Leber hereditary optic neuropathy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010788 MONDO:0016333 False Leber hereditary optic neuropathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010788 MONDO:0043878 False Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010789 MONDO:0002254 False MELAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0002254 False MERRF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0002320 False MERRF syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010790 MONDO:0016022 False MERRF syndrome early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010791 MONDO:0000866 False myoglobinuria, recurrent hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0020504 False myoglobinuria, recurrent hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0700223 False myoglobinuria, recurrent hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010792 MONDO:0009637 False lethal infantile mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010792 MONDO:0009637 False lethal infantile mitochondrial myopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010793 MONDO:0003847 False nephropathy, chronic tubulointerstitial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0015653 False NARP syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010794 MONDO:0015653 False NARP syndrome monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010794 MONDO:0100033 False NARP syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010796 MONDO:0005180 False Parkinson disease, mitochondrial Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010797 MONDO:0002254 False Pearson syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010796 MONDO:0005180 False Parkinson disease, mitochondrial Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010797 MONDO:0002254 False Pearson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010798 MONDO:0002254 False proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010799 MONDO:0016298 False deafness, aminoglycoside-induced postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010799 MONDO:0016387 False deafness, aminoglycoside-induced mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010806 MONDO:0700234 False retinitis pigmentosa 13 PRPF8-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010808 MONDO:0013600 False fatal familial insomnia insomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010810 MONDO:0002525 False vitamin D hydroxylation-deficient rickets, type 1B inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010810 MONDO:0009924 False vitamin D hydroxylation-deficient rickets, type 1B vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010808 MONDO:0013600 False fatal familial insomnia insomnia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010810 MONDO:0002525 False vitamin D hydroxylation-deficient rickets, type 1B inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010810 MONDO:0009924 False vitamin D hydroxylation-deficient rickets, type 1B vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0045012 False vitamin D hydroxylation-deficient rickets, type 1B steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010810 MONDO:0800096 False vitamin D hydroxylation-deficient rickets, type 1B abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010811 MONDO:0005043 False benign prostatic hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010811 MONDO:0005043 False benign prostatic hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010812 MONDO:0003847 False macrocytosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010813 MONDO:0003847 False pancreatic beta cell agenesis with neonatal diabetes mellitus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010819 MONDO:0019353 False Stargardt disease 3 Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24588,28 +24618,28 @@ MONDO:0010825 MONDO:0002254 False atrioventricular defect-blepharophimosis-radia MONDO:0010825 MONDO:0005267 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0024458 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010828 MONDO:0800395 False retinitis pigmentosa 11 PRPF31-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010829 MONDO:0014768 False CARASIL syndrome cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010830 MONDO:0015674 False neuronal ceroid lipofuscinosis 8 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010830 MONDO:0019262 False neuronal ceroid lipofuscinosis 8 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010831 MONDO:0003847 False familial caudal dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010829 MONDO:0014768 False CARASIL syndrome cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010830 MONDO:0015674 False neuronal ceroid lipofuscinosis 8 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010830 MONDO:0019262 False neuronal ceroid lipofuscinosis 8 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010831 MONDO:0003847 False familial caudal dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010833 MONDO:0100179 False Hirschsprung disease, susceptibility to, 2 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010834 MONDO:0100179 False Hirschsprung disease, susceptibility to, 5 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010838 MONDO:0003847 False gonadal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010838 MONDO:0003847 False gonadal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010840 MONDO:0005071 False pachygyria-intellectual disability-epilepsy syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010841 MONDO:0019517 False Waardenburg syndrome type 2B Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010843 MONDO:0020573 False dyslexia, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010850 MONDO:0015824 False Tessier number 4 facial cleft oculomaxillofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010850 MONDO:0015824 False Tessier number 4 facial cleft oculomaxillofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010851 MONDO:0005328 False Lowry-MacLean syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010852 MONDO:0016907 False chromosome 8Q12.1-q21.2 deletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010853 MONDO:0015979 False Helicobacter pylori infection, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010857 MONDO:0015059 False semantic dementia progressive non-fluent aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010857 MONDO:0017160 False semantic dementia behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010857 MONDO:0015059 False semantic dementia progressive non-fluent aphasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010857 MONDO:0017160 False semantic dementia behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010858 MONDO:0002320 False macrocephaly-spastic paraplegia-dysmorphism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010861 MONDO:0010255 False type 1 diabetes mellitus 3 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010862 MONDO:0010255 False type 1 diabetes mellitus 4 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010863 MONDO:0010255 False type 1 diabetes mellitus 5 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010864 MONDO:0010255 False type 1 diabetes mellitus 7 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010865 MONDO:0015338 False pseudoaminopterin syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010861 MONDO:0010255 False type 1 diabetes mellitus 3 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010862 MONDO:0010255 False type 1 diabetes mellitus 4 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010863 MONDO:0010255 False type 1 diabetes mellitus 5 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010864 MONDO:0010255 False type 1 diabetes mellitus 7 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010865 MONDO:0015338 False pseudoaminopterin syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010868 MONDO:0020704 False rippling muscle disease 1 inherited rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010869 MONDO:0024257 False motor neuron disease with dementia and ophthalmoplegia hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010870 MONDO:0100494 False tibial muscular dystrophy autosomal dominant titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24620,51 +24650,51 @@ MONDO:0010873 MONDO:0020491 False band heterotopia of brain subcortical band het MONDO:0010874 MONDO:0003847 False enteropathy, familial, with villous edema and immunoglobulin G2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010875 MONDO:0003847 False pachydermodactyly, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010876 MONDO:0019294 False recessive aplasia cutis congenita of limbs mixed dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010877 MONDO:0002316 False Charcot-Marie-Tooth disease type 5 motor peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010877 MONDO:0019064 False Charcot-Marie-Tooth disease type 5 hereditary spastic paraplegia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010879 MONDO:0016761 False CODAS syndrome spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010877 MONDO:0002316 False Charcot-Marie-Tooth disease type 5 motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010877 MONDO:0019064 False Charcot-Marie-Tooth disease type 5 hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010879 MONDO:0016761 False CODAS syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010881 MONDO:0005516 False mesomelia-synostoses syndrome osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010884 MONDO:0001347 False muscular dystrophy, scapulohumeral facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010884 MONDO:0001347 False muscular dystrophy, scapulohumeral facioscapulohumeral muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010885 MONDO:0003847 False angiokeratoma corporis diffusum with arteriovenous fistulas hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010886 MONDO:0018230 False 2q37 microdeletion syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010888 MONDO:0000931 False adenomyosis endometrial disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010886 MONDO:0018230 False 2q37 microdeletion syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010888 MONDO:0000931 False adenomyosis endometrial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010889 MONDO:0005385 False arterial dissection-lentiginosis syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0002254 False lethal hemolytic anemia-genital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0003664 False lethal hemolytic anemia-genital anomalies syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010896 MONDO:0003847 False pigment dispersion syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010900 MONDO:0019342 False intrauterine growth retardation with increased mitomycin c sensitivity Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010896 MONDO:0003847 False pigment dispersion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010900 MONDO:0019342 False intrauterine growth retardation with increased mitomycin c sensitivity Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010901 MONDO:0002254 False HEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010902 MONDO:0016761 False spondyloepiphyseal dysplasia, Reardon type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010903 MONDO:0015469 False craniosynostosis, Adelaide type craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010903 MONDO:0015469 False craniosynostosis, Adelaide type craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010904 MONDO:0003847 False setting-Sun phenomenon, familial benign hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010906 MONDO:0016044 False orofacial cleft 11 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010908 MONDO:0021147 False loose anagen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010910 MONDO:0000022 False enuresis, nocturnal, 1 nocturnal enuresis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010910 MONDO:0003847 False enuresis, nocturnal, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010911 MONDO:0003430 False prolactin-producing pituitary gland adenoma prolactin producing pituitary tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010911 MONDO:0017824 False prolactin-producing pituitary gland adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010911 MONDO:0003430 False prolactin-producing pituitary gland adenoma prolactin producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010911 MONDO:0017824 False prolactin-producing pituitary gland adenoma familial isolated pituitary adenoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010912 MONDO:0100154 False fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement TUBB3-related tubulinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010913 MONDO:0006322 False Caroli disease non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010913 MONDO:0006322 False Caroli disease non-neoplastic bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010917 MONDO:0001314 False chondrocalcinosis 1 chondrocalcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010918 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010919 MONDO:0003847 False varicella, severe recurrent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010920 MONDO:0024623 False microtia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010921 MONDO:0002436 False nasal dermoid cyst nasal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010921 MONDO:0015380 False nasal dermoid cyst facial dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010921 MONDO:0018751 False nasal dermoid cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010921 MONDO:0015380 False nasal dermoid cyst facial dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010921 MONDO:0018751 False nasal dermoid cyst hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010922 MONDO:0005020 False Satoyoshi syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010923 MONDO:0005336 False proximal myopathy with focal depletion of mitochondria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010923 MONDO:0700223 False proximal myopathy with focal depletion of mitochondria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010927 MONDO:0007336 False orofacial cleft 3 isolated cleft palate UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010927 MONDO:0007336 False orofacial cleft 3 isolated cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010927 MONDO:0016043 False orofacial cleft 3 isolated cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010928 MONDO:0003847 False dwarfism, familial, with muscle spasms hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010929 MONDO:0015338 False craniosynostosis 4 syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010930 MONDO:0002254 False anophthalmia plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010931 MONDO:0019642 False vitamin D-dependent rickets, type 2B vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010931 MONDO:0019642 False vitamin D-dependent rickets, type 2B vitamin D-dependent rickets, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010931 MONDO:0800096 False vitamin D-dependent rickets, type 2B abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010932 MONDO:0019118 False progressive bifocal chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010932 MONDO:0019118 False progressive bifocal chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010936 MONDO:0017160 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010936 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010936 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 7 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010937 MONDO:0003847 False isoproterenol-mediated vasodilatation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010939 MONDO:0002155 False low phospholipid associated cholelithiasis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010940 MONDO:0020573 False inherited susceptibility to asthma inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24674,46 +24704,46 @@ MONDO:0010943 MONDO:0100182 False schizophrenia 4 schizophrenia, susceptibility MONDO:0010944 MONDO:0003847 False mitochondrial import-stimulating factor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010946 MONDO:0800484 False hypertrophic cardiomyopathy 6 PRKAG2-related cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010947 MONDO:0002405 False Budd-Chiari syndrome hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010948 MONDO:0011060 False cataract 10 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010950 MONDO:0010255 False type 1 diabetes mellitus 8 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010952 MONDO:0005328 False hereditary hyperferritinemia with congenital cataracts eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010954 MONDO:0021094 False Wiskott-Aldrich syndrome, autosomal dominant form immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010948 MONDO:0011060 False cataract 10 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010950 MONDO:0010255 False type 1 diabetes mellitus 8 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010952 MONDO:0005328 False hereditary hyperferritinemia with congenital cataracts eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010954 MONDO:0021094 False Wiskott-Aldrich syndrome, autosomal dominant form immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010955 MONDO:0003847 False ectodermal dysplasia with intellectual disability and syndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010956 MONDO:0003847 False enamel hypoplasia, cataracts, and aqueductal stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010960 MONDO:0003847 False protocadherin 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010962 MONDO:0000426 False diffuse nonepidermolytic palmoplantar keratoderma autosomal dominant disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010962 MONDO:0000426 False diffuse nonepidermolytic palmoplantar keratoderma autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010966 MONDO:0000226 False achondrogenesis type IB mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010966 MONDO:0019052 False achondrogenesis type IB inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010966 MONDO:0019052 False achondrogenesis type IB inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010968 MONDO:0020366 False glaucoma 3, primary infantile, B congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010971 MONDO:0002254 False infundibulopelvic stenosis-multicystic kidney syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010972 MONDO:0015160 False hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010974 MONDO:0019006 False nephrotic syndrome, type 2 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010977 MONDO:0005336 False Brody myopathy myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010977 MONDO:0005336 False Brody myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010977 MONDO:0700223 False Brody myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010978 MONDO:0003847 False portal vein, cavernous transformation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010980 MONDO:0003847 False midline malformations, multiple, with limb abnormalities and hypopituitarism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010982 MONDO:0003847 False ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010983 MONDO:0017706 False dystonia 9 disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010988 MONDO:0007145 False aplasia cutis-myopia syndrome aplasia cutis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010991 MONDO:0018677 False laterality defects, autosomal dominant visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010983 MONDO:0017706 False dystonia 9 disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010988 MONDO:0007145 False aplasia cutis-myopia syndrome aplasia cutis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010991 MONDO:0018677 False laterality defects, autosomal dominant visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010992 MONDO:0015159 False Ayme-Gripp syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011000 MONDO:0003847 False guanylate cyclase 2E hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6A motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6A hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011003 MONDO:0002254 False dilated cardiomyopathy 1E syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011003 MONDO:0002254 False dilated cardiomyopathy 1E syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011005 MONDO:0003847 False trisomy 18-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011006 MONDO:0015091 False hereditary spastic paraplegia 9A autosomal dominant spastic paraplegia type 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011007 MONDO:0002254 False diaphragmatic defect-limb deficiency-skull defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011009 MONDO:0003847 False muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011011 MONDO:0002254 False skeletal dysplasia-epilepsy-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011011 MONDO:0018230 False skeletal dysplasia-epilepsy-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011014 MONDO:0003847 False pleuropulmonary blastoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011011 MONDO:0018230 False skeletal dysplasia-epilepsy-short stature syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011014 MONDO:0003847 False pleuropulmonary blastoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011015 MONDO:0020373 False cataract 24 early-onset anterior polar cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011016 MONDO:0010255 False type 1 diabetes mellitus 11 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011016 MONDO:0010255 False type 1 diabetes mellitus 11 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011017 MONDO:0005217 False Naxos disease familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011017 MONDO:0006025 False Naxos disease autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011017 MONDO:0006025 False Naxos disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011017 MONDO:0100080 False Naxos disease cardioectodermal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011018 MONDO:0016761 False brachyolmia-amelogenesis imperfecta syndrome spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011018 MONDO:0016761 False brachyolmia-amelogenesis imperfecta syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011020 MONDO:0002081 False osteoporosis-oculocutaneous hypopigmentation syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011020 MONDO:0003847 False osteoporosis-oculocutaneous hypopigmentation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011021 MONDO:0017574 False neuronal intestinal dysplasia, type B chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24721,16 +24751,16 @@ MONDO:0011022 MONDO:0015160 False Potocki-Shaffer syndrome multiple congenital a MONDO:0011024 MONDO:0015614 False dermatitis herpetiformis, familial dermatitis herpetiformis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011024 MONDO:0100118 False dermatitis herpetiformis, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011026 MONDO:0017778 False autosomal recessive congenital ichthyosis 4A lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011027 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 1 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011027 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 1 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011027 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 1 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011029 MONDO:0003847 False myeloid tumor suppressor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011030 MONDO:0003847 False epithelial basolateral chloride conductance regulator, rabbit, homolog of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011033 MONDO:0010255 False type 1 diabetes mellitus 13 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011034 MONDO:0019287 False odontomicronychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011035 MONDO:0021061 False neurofibromatosis-Noonan syndrome neurofibromatosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011033 MONDO:0010255 False type 1 diabetes mellitus 13 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011034 MONDO:0019287 False odontomicronychial dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011035 MONDO:0021061 False neurofibromatosis-Noonan syndrome neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011036 MONDO:0005071 False porencephaly-cerebellar hypoplasia-internal malformations syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011037 MONDO:0020573 False renal dysplasia, cystic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011038 MONDO:0014720 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011038 MONDO:0014720 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011038 MONDO:0700002 False cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011039 MONDO:0003847 False atrophia maculosa varioliformis cutis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011040 MONDO:0003847 False spinal dysplasia, Anhalt type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24747,20 +24777,20 @@ MONDO:0011053 MONDO:0000508 False intellectual disability-sparse hair-brachydact MONDO:0011053 MONDO:0002320 False intellectual disability-sparse hair-brachydactyly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0700120 False intellectual disability-sparse hair-brachydactyly syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011054 MONDO:0006025 False autosomal recessive amelia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011055 MONDO:0003847 False distal monosomy 10p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011057 MONDO:0043218 False cerebrovascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011060 MONDO:0005129 False early-onset non-syndromic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011055 MONDO:0003847 False distal monosomy 10p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011057 MONDO:0043218 False cerebrovascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011060 MONDO:0005129 False early-onset non-syndromic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011061 MONDO:0001595 False chorea, remitting, with nystagmus and cataract choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011061 MONDO:0003847 False chorea, remitting, with nystagmus and cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011064 MONDO:0005516 False lethal chondrodysplasia, Seller type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011064 MONDO:0018230 False lethal chondrodysplasia, Seller type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011065 MONDO:0015338 False Hunter-McAlpine craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011068 MONDO:0010255 False type 1 diabetes mellitus 12 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011065 MONDO:0015338 False Hunter-McAlpine craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011068 MONDO:0010255 False type 1 diabetes mellitus 12 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011069 MONDO:0003847 False cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011072 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 2 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011072 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 2 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011072 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 2 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011073 MONDO:0020525 False diabetes mellitus, transient neonatal, 1 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011076 MONDO:0002320 False myofibrillar myopathy 1 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011076 MONDO:0002320 False myofibrillar myopathy 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011077 MONDO:0003847 False microcephaly, corpus callosum dysgenesis, and cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011078 MONDO:0003847 False anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011080 MONDO:0003847 False progressive deafness with stapes fixation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24770,9 +24800,9 @@ MONDO:0011089 MONDO:0003847 False patent ductus venosus hereditary disease UNSUP MONDO:0011090 MONDO:0002320 False isolated hereditary congenital facial paralysis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0003847 False isolated hereditary congenital facial paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011092 MONDO:0003847 False ribbing disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011093 MONDO:0005381 False mucopolysaccharidosis type 9 bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011098 MONDO:0023122 False prostate cancer, hereditary, 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011099 MONDO:0002254 False human HOXA1 syndromes syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011093 MONDO:0005381 False mucopolysaccharidosis type 9 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011098 MONDO:0023122 False prostate cancer, hereditary, 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011099 MONDO:0002254 False human HOXA1 syndromes syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011100 MONDO:0003847 False microcephaly, retinitis pigmentosa, and sutural cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011101 MONDO:0100259 False peroxisome biogenesis disorder 1B peroxisome biogenesis disorder due to PEX1 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011105 MONDO:0019627 False alacrima, congenital, autosomal recessive isolated congenital alacrima UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24791,14 +24821,14 @@ MONDO:0011121 MONDO:0002817 False paragangliomas 2 adrenal gland cancer UNSUPPOR MONDO:0011121 MONDO:0006295 False paragangliomas 2 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0017366 False paragangliomas 2 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011121 MONDO:0021089 False paragangliomas 2 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011123 MONDO:0010255 False type 1 diabetes mellitus 15 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011123 MONDO:0010255 False type 1 diabetes mellitus 15 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011124 MONDO:0100510 False spondyloepimetaphyseal dysplasia-abnormal dentition syndrome spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011126 MONDO:0003847 False acute insulin response hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011126 MONDO:0020683 False acute insulin response acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011129 MONDO:0005338 False glaucoma type 1C open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011129 MONDO:0020366 False glaucoma type 1C congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011130 MONDO:0003847 False sebaceous gland hyperplasia, familial presenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011131 MONDO:0019287 False tricho-oculo-dermo-vertebral syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011131 MONDO:0019287 False tricho-oculo-dermo-vertebral syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011134 MONDO:0015160 False Curry-Jones syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011135 MONDO:0003847 False superior transverse scapular ligament, calcification of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011137 MONDO:0800406 False retinitis pigmentosa 19 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24807,10 +24837,10 @@ MONDO:0011139 MONDO:0016018 False preaxial hallucal polydactyly diabetic embryop MONDO:0011141 MONDO:0003847 False megaloblastic anemia, folate-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011142 MONDO:0005267 False Ehlers-Danlos syndrome, musculocontractural type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011143 MONDO:0100454 False cone-rod dystrophy 6 GUCY2D retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011144 MONDO:0008768 False ceroid lipofuscinosis, neuronal, 6A ceroid lipofuscinosis, neuronal, 6B (Kufs type) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011144 MONDO:0015674 False ceroid lipofuscinosis, neuronal, 6A late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011146 MONDO:0002254 False tetrasomy 12p syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011147 MONDO:0002254 False chromosome 18q deletion syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011144 MONDO:0008768 False ceroid lipofuscinosis, neuronal, 6A ceroid lipofuscinosis, neuronal, 6B (Kufs type) UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011144 MONDO:0015674 False ceroid lipofuscinosis, neuronal, 6A late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011146 MONDO:0002254 False tetrasomy 12p syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011147 MONDO:0002254 False chromosome 18q deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011148 MONDO:0003847 False Spondylospinal thoracic dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011149 MONDO:0019303 False premature aging syndrome, Okamoto type premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011150 MONDO:0003847 False acroosteolysis-keloid-like lesions-premature aging syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24818,34 +24848,34 @@ MONDO:0011151 MONDO:0700228 False exudative vitreoretinopathy 4 LRP5-related exu MONDO:0011152 MONDO:0018491 False PHGDH deficiency 3-phosphoglycerate dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011153 MONDO:0019010 False hyperinsulinemic hypoglycemia, familial, 2 congenital isolated hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011155 MONDO:0003847 False vacuolar Neuromyopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011156 MONDO:0011559 False progressive familial intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis type 2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011156 MONDO:0011559 False progressive familial intrahepatic cholestasis type 2 benign recurrent intrahepatic cholestasis type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011158 MONDO:0017979 False autoimmune lymphoproliferative syndrome type 1 autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011161 MONDO:0003847 False sperm-specific antigen 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011162 MONDO:0011060 False cataract 14 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011162 MONDO:0011060 False cataract 14 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011166 MONDO:0002254 False lymphedema-atrial septal defects-facial changes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011167 MONDO:0010255 False type 1 diabetes mellitus 6 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011168 MONDO:0010255 False type 1 diabetes mellitus 10 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011167 MONDO:0010255 False type 1 diabetes mellitus 6 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011168 MONDO:0010255 False type 1 diabetes mellitus 10 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011169 MONDO:0100118 False keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011172 MONDO:0003847 False otofacioosseous-gonadal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011174 MONDO:0003847 False hyperzincemia with functional zinc depletion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011176 MONDO:0017626 False intestinal hypomagnesemia 1 familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0002254 False infantile convulsions and choreoathetosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011178 MONDO:0015653 False infantile convulsions and choreoathetosis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011178 MONDO:0002254 False infantile convulsions and choreoathetosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011178 MONDO:0015653 False infantile convulsions and choreoathetosis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011179 MONDO:0020573 False leishmaniasis, tegumentary, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011180 MONDO:0003847 False broad terminal phalanges, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011181 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 2 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011181 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011182 MONDO:0011610 False trimethylaminuria dimethylglycine dehydrogenase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011183 MONDO:0019707 False Paget disease of bone 2, early-onset primary osteolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011187 MONDO:0019673 False polydactyly, postaxial, type A2 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011191 MONDO:0002407 False capillary infantile hemangioma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011191 MONDO:0003847 False capillary infantile hemangioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011193 MONDO:0000455 False cone dystrophy 3 cone dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011193 MONDO:0000455 False cone dystrophy 3 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011194 MONDO:0015140 False Alzheimer disease 5 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011196 MONDO:0017593 False amyotrophic lateral sclerosis type 5 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011197 MONDO:0015358 False hereditary thermosensitive neuropathy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011199 MONDO:0013433 False nephropathy, progressive tubulointerstitial, with cholestatic liver disease primary sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011199 MONDO:0013433 False nephropathy, progressive tubulointerstitial, with cholestatic liver disease primary sclerosing cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011202 MONDO:0002254 False RHYNS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011202 MONDO:0015962 False RHYNS syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011202 MONDO:0015962 False RHYNS syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011202 MONDO:0024458 False RHYNS syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011203 MONDO:0002254 False Pierre Robin sequence with pectus excavatum and rib and scapular anomalies syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011205 MONDO:0003847 False medium chain 3-ketoacyl-Coa thiolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24853,14 +24883,14 @@ MONDO:0011206 MONDO:0003847 False ventriculomegaly with defects of the radius an MONDO:0011207 MONDO:0020573 False xanthomatosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011209 MONDO:0003847 False progeroid facial appearance with hand anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011210 MONDO:0003847 False mitochondrial intermembrane space protein Tim12, yeast, homolog of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011211 MONDO:0019691 False axial spondylometaphyseal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011211 MONDO:0019691 False axial spondylometaphyseal dysplasia short rib dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011212 MONDO:0003847 False sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011213 MONDO:0000508 False Pierpont syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011213 MONDO:0002320 False Pierpont syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011213 MONDO:0019296 False Pierpont syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011213 MONDO:0000508 False Pierpont syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011213 MONDO:0002320 False Pierpont syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011213 MONDO:0019296 False Pierpont syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011215 MONDO:0800063 False osteocraniostenosis primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011217 MONDO:0045017 False desmosterolosis cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011220 MONDO:0017279 False parkinson disease 3, autosomal dominant young-onset Parkinson disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011220 MONDO:0017279 False parkinson disease 3, autosomal dominant young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011221 MONDO:0003847 False Weyers ulnar ray/oligodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011225 MONDO:0021190 False severe combined immunodeficiency due to DCLRE1C deficiency DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011227 MONDO:0005172 False short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24868,11 +24898,11 @@ MONDO:0011228 MONDO:0003847 False creases, infra-auricular cutaneous, with tall MONDO:0011229 MONDO:0044970 False ethylmalonic encephalopathy mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011229 MONDO:0100198 False ethylmalonic encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011230 MONDO:0005172 False ossification of the posterior longitudinal ligament of the spine skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011230 MONDO:0023603 False ossification of the posterior longitudinal ligament of the spine hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011230 MONDO:0023603 False ossification of the posterior longitudinal ligament of the spine hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011233 MONDO:0100235 False Axenfeld-Rieger syndrome type 3 FOXC1-related anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011235 MONDO:0018230 False pelvic dysplasia-arthrogryposis of lower limbs syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011235 MONDO:0018230 False pelvic dysplasia-arthrogryposis of lower limbs syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011237 MONDO:0020573 False hyperlipidemia, combined, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011238 MONDO:0007321 False chondrodysplasia punctata, brachytelephalangic, autosomal autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011238 MONDO:0007321 False chondrodysplasia punctata, brachytelephalangic, autosomal autosomal dominant chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011239 MONDO:0002254 False colobomatous macrophthalmia-microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011239 MONDO:0024458 False colobomatous macrophthalmia-microcornea syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011240 MONDO:0003847 False megalencephaly-capillary malformation-polymicrogyria syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24881,22 +24911,22 @@ MONDO:0011241 MONDO:0003847 False pseudoacromegaly with severe insulin resistanc MONDO:0011242 MONDO:0019524 False Bartter disease type 4A Bartter syndrome type 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011243 MONDO:0003847 False grange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011244 MONDO:0015160 False Marshall-Smith syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011245 MONDO:0018781 False ichthyosis, hystrix-like, with hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011245 MONDO:0018781 False ichthyosis, hystrix-like, with hearing loss KID syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011247 MONDO:0003847 False jejunal atresia with renal adysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011248 MONDO:0002254 False distal monosomy 13q syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011249 MONDO:0007492 False torsion dystonia with onset in infancy early-onset generalized limb-onset dystonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011249 MONDO:0007492 False torsion dystonia with onset in infancy early-onset generalized limb-onset dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011250 MONDO:0003847 False microcephaly, macrotia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011251 MONDO:0003847 False facial dysmorphism, cleft palate, hearing loss, and camptodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011252 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Shohat type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011254 MONDO:0003847 False brachydactyly, intraventricular septal defect, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011256 MONDO:0003847 False emphysema, congenital, with deafness, penoscrotal web, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011257 MONDO:0002254 False MPI-congenital disorder of glycosylation syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011257 MONDO:0019313 False MPI-congenital disorder of glycosylation lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011257 MONDO:0002254 False MPI-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011257 MONDO:0019313 False MPI-congenital disorder of glycosylation lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011258 MONDO:0003847 False branchiootic syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011258 MONDO:0018878 False branchiootic syndrome 1 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011260 MONDO:0002114 False pancreatic lymphoma, familial pancreas lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011260 MONDO:0003847 False pancreatic lymphoma, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011261 MONDO:0016761 False spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011261 MONDO:0016761 False spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011262 MONDO:0002254 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011262 MONDO:0003847 False camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011263 MONDO:0003847 False skeletal dysplasia and progressive central nervous system degeneration, lethal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24905,13 +24935,13 @@ MONDO:0011268 MONDO:0001909 False renal tubular acidosis, distal, 3, with or wit MONDO:0011268 MONDO:0015962 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0018440 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss autosomal recessive distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0019052 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011270 MONDO:0023122 False prostate cancer, hereditary, 8 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011271 MONDO:0018948 False rigid spine muscular dystrophy 1 multiminicore myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011270 MONDO:0023122 False prostate cancer, hereditary, 8 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011271 MONDO:0018948 False rigid spine muscular dystrophy 1 multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011271 MONDO:0019951 False rigid spine muscular dystrophy 1 rigid spine syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011271 MONDO:0100100 False rigid spine muscular dystrophy 1 SELENON-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011272 MONDO:0800391 False retinitis pigmentosa 25 EYS-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011273 MONDO:0004382 False H syndrome laryngeal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011273 MONDO:0006412 False H syndrome sinus histiocytosis with massive lymphadenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011273 MONDO:0004382 False H syndrome laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011273 MONDO:0006412 False H syndrome sinus histiocytosis with massive lymphadenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011273 MONDO:0100118 False H syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011280 MONDO:0100182 False schizophrenia 6 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011282 MONDO:0003847 False tumor suppressor gene on chromosome 11 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24920,7 +24950,7 @@ MONDO:0011289 MONDO:0003847 False apraxia of eyelid opening hereditary disease U MONDO:0011290 MONDO:0003847 False dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011296 MONDO:0800066 False Meckel syndrome, type 2 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011301 MONDO:0800466 False pseudohypoparathyroidism type 1B disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011302 MONDO:0010255 False type 1 diabetes mellitus 17 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011302 MONDO:0010255 False type 1 diabetes mellitus 17 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011303 MONDO:0019006 False focal segmental glomerulosclerosis 1 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011306 MONDO:0003847 False muscular dystrophy, congenital, with cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011308 MONDO:0044970 False GRACILE syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24937,17 +24967,17 @@ MONDO:0011321 MONDO:0003847 False expansile bone lesions hereditary disease UNSU MONDO:0011322 MONDO:0003847 False Oroacral syndrome, Verloes-Koulischer type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011323 MONDO:0003847 False arhinia, choanal atresia, and microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011326 MONDO:0016603 False citrullinemia, type II, adult-onset citrullinemia type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011327 MONDO:0005395 False neuronal intranuclear inclusion disease movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011327 MONDO:0015547 False neuronal intranuclear inclusion disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011327 MONDO:0005395 False neuronal intranuclear inclusion disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011327 MONDO:0015547 False neuronal intranuclear inclusion disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011332 MONDO:0003847 False Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011338 MONDO:0017855 False Omenn syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011339 MONDO:0015149 False hereditary spastic paraplegia 8 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011338 MONDO:0017855 False Omenn syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011339 MONDO:0015149 False hereditary spastic paraplegia 8 pure hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011340 MONDO:0024623 False congenital tracheal stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011341 MONDO:0003847 False microcephaly, facial abnormalities, micromelia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011343 MONDO:0003847 False follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011344 MONDO:0003847 False parotitis, juvenile recurrent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011345 MONDO:0003847 False facial dysmorphism, selective tooth agenesis, and choroid calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011347 MONDO:0015469 False craniosynostosis with ectopia lentis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011347 MONDO:0015469 False craniosynostosis with ectopia lentis craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011348 MONDO:0021003 False non-syndromic polydactyly polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011349 MONDO:0003847 False osteoma of cranial vault, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011352 MONDO:0003847 False neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24957,35 +24987,35 @@ MONDO:0011356 MONDO:0003847 False exostosis, Dupuytren subungual hereditary dise MONDO:0011357 MONDO:0003847 False eccrine syringofibroadenomatosis with eyelid abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011358 MONDO:0003847 False blue nevi, familial multiple hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011361 MONDO:0015356 False prostate cancer/brain cancer susceptibility hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011362 MONDO:0016108 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011362 MONDO:0016108 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011362 MONDO:0100494 False myopathy, myofibrillar, 9, with early respiratory failure autosomal dominant titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011363 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 3 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011363 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 3 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011363 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 3 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011365 MONDO:0003847 False blepharophimosis - intellectual disability syndrome, SBBYS type hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011365 MONDO:0005151 False blepharophimosis - intellectual disability syndrome, SBBYS type endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011365 MONDO:0003847 False blepharophimosis - intellectual disability syndrome, SBBYS type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011365 MONDO:0005151 False blepharophimosis - intellectual disability syndrome, SBBYS type endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011367 MONDO:0003847 False Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011368 MONDO:0017895 False papillary thyroid Microcarcinoma familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011368 MONDO:0017895 False papillary thyroid Microcarcinoma familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011370 MONDO:0019353 False Stargardt disease 4 Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011371 MONDO:0018024 False hydroa vacciniforme, familial hydroa vacciniforme UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011371 MONDO:0100118 False hydroa vacciniforme, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011372 MONDO:0016660 False microcephaly with simplified gyral pattern autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011372 MONDO:0016660 False microcephaly with simplified gyral pattern autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011373 MONDO:0015979 False urinary tract infections, recurrent, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011374 MONDO:0037748 False hypercholesterolemia, familial, 4 hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011375 MONDO:0019019 False brittle bone disorder osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011374 MONDO:0037748 False hypercholesterolemia, familial, 4 hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011375 MONDO:0019019 False brittle bone disorder osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011376 MONDO:0003847 False ventricular fibrillation, paroxysmal familial, type 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011376 MONDO:0100234 False ventricular fibrillation, paroxysmal familial, type 1 paroxysmal familial ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011384 MONDO:0020573 False hypertension, essential, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011385 MONDO:0000812 False intervertebral disk degenerative disorder vertebral column disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011385 MONDO:0003847 False intervertebral disk degenerative disorder hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011385 MONDO:0000812 False intervertebral disk degenerative disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011385 MONDO:0003847 False intervertebral disk degenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011387 MONDO:0100171 False psoriasis 4, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011391 MONDO:0000137 False megalencephalic leukoencephalopathy with subcortical cysts leukoencephalopathy, megalencephalic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011393 MONDO:0017773 False hypoalphalipoproteinemia, primary, 1 hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011395 MONDO:0800406 False cone-rod dystrophy 3 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011397 MONDO:0003406 False autosomal dominant cerebellar ataxia, deafness and narcolepsy sleep-wake disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011397 MONDO:0003406 False autosomal dominant cerebellar ataxia, deafness and narcolepsy sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011400 MONDO:0016191 False dilated cardiomyopathy 1G qualitative or quantitative defects of titin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011401 MONDO:0015140 False Alzheimer disease without neurofibrillary tangles early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011402 MONDO:0002320 False congenital cataracts-facial dysmorphism-neuropathy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011402 MONDO:0016949 False congenital cataracts-facial dysmorphism-neuropathy syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011402 MONDO:0016949 False congenital cataracts-facial dysmorphism-neuropathy syndrome partial duplication of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011404 MONDO:0003847 False Caronte hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011405 MONDO:0100118 False poikiloderma with neutropenia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011406 MONDO:0003847 False cholesteatoma, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25000,33 +25030,33 @@ MONDO:0011419 MONDO:0003847 False camera-Marugo-Cohen syndrome hereditary diseas MONDO:0011420 MONDO:0006909 False short stature due to partial GHR deficiency pituitary dwarfism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011421 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011422 MONDO:0006025 False autosomal recessive proximal renal tubular acidosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011422 MONDO:0019052 False autosomal recessive proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011424 MONDO:0021058 False Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011426 MONDO:0004884 False aceruloplasminemia eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011422 MONDO:0019052 False autosomal recessive proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011424 MONDO:0021058 False Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011426 MONDO:0004884 False aceruloplasminemia eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011427 MONDO:0015979 False Ascaris lumbricoides infection, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011429 MONDO:0005554 False juvenile idiopathic arthritis rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011429 MONDO:0005554 False juvenile idiopathic arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0700007 False juvenile idiopathic arthritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0016663 False MASS syndrome overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0023603 False MASS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011433 MONDO:0003847 False anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011434 MONDO:0100171 False psoriasis 5, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011438 MONDO:0002406 False acne dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011438 MONDO:0002406 False acne dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011438 MONDO:0100118 False acne hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011440 MONDO:0020573 False hypertension, essential, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011441 MONDO:0002254 False complex regional pain syndrome type 1 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011445 MONDO:0015150 False hereditary spastic paraplegia 11 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011441 MONDO:0002254 False complex regional pain syndrome type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011445 MONDO:0015150 False hereditary spastic paraplegia 11 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011446 MONDO:0003847 False myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011449 MONDO:0017706 False Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011452 MONDO:0008686 False hypotrichosis 7 isolated familial wooly hair disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011449 MONDO:0017706 False Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011452 MONDO:0008686 False hypotrichosis 7 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011452 MONDO:0018914 False hypotrichosis 7 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011453 MONDO:0003847 False ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011454 MONDO:0005267 False patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011455 MONDO:0003847 False lissencephaly, familial, with cleft palate and cerebellar hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011457 MONDO:0024237 False ataxia-telangiectasia-like disorder inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011458 MONDO:0015993 False Leber congenital amaurosis 4 cone-rod dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011458 MONDO:0015993 False Leber congenital amaurosis 4 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011458 MONDO:0100438 False Leber congenital amaurosis 4 AIPL1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011462 MONDO:0005046 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011462 MONDO:0023603 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011462 MONDO:0005046 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011462 MONDO:0023603 False pyogenic arthritis-pyoderma gangrenosum-acne syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011463 MONDO:0003847 False polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011465 MONDO:0100118 False infundibulocystic basal cell carcinoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011468 MONDO:0002316 False hereditary motor and sensory neuropathy, Okinawa type motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25034,13 +25064,13 @@ MONDO:0011470 MONDO:0001336 False hyperlipidemia, combined, 2 familial hyperlipi MONDO:0011472 MONDO:0015550 False epidermolysis bullosa simplex due to plakophilin deficiency suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011473 MONDO:0100445 False Leber congenital amaurosis 5 LCA5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011478 MONDO:0003847 False growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011479 MONDO:0021272 False postural orthostatic tachycardia syndrome inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011479 MONDO:0021272 False postural orthostatic tachycardia syndrome inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011482 MONDO:0016187 False dilated cardiomyopathy 1I qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011483 MONDO:0003847 False polycystic bone disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011484 MONDO:0016342 False catecholaminergic polymorphic ventricular tachycardia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011484 MONDO:0016342 False catecholaminergic polymorphic ventricular tachycardia 1 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011485 MONDO:0017778 False autosomal recessive congenital ichthyosis 5 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011487 MONDO:0005395 False Huntington disease-like 3 movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011490 MONDO:0005002 False diffuse panbronchiolitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011490 MONDO:0005002 False diffuse panbronchiolitis chronic obstructive pulmonary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011491 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011492 MONDO:0003847 False mandibulofacial dysostosis syndrome, Bauru type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011494 MONDO:0003847 False hyaluronan metabolism, defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25050,20 +25080,20 @@ MONDO:0011500 MONDO:0005073 False Becker nevus syndrome melanocytic nevus UNSUPP MONDO:0011500 MONDO:0100118 False Becker nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011501 MONDO:0002081 False wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011501 MONDO:0003847 False wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011504 MONDO:0015660 False NDE1-related microhydranencephaly sporadic fetal brain disruption sequence UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011504 MONDO:0015660 False NDE1-related microhydranencephaly sporadic fetal brain disruption sequence UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011504 MONDO:0700116 False NDE1-related microhydranencephaly microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011506 MONDO:0016022 False familial infantile myoclonic epilepsy early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011506 MONDO:0016022 False familial infantile myoclonic epilepsy early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011507 MONDO:0003847 False diabetes mellitus, congenital autoimmune hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011508 MONDO:0018908 False lymphoma, non-Hodgkin, familial non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011509 MONDO:0003847 False low density lipoprotein cholesterol, mild elevation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011510 MONDO:0000508 False Bohring-Opitz syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011510 MONDO:0002320 False Bohring-Opitz syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011510 MONDO:0003847 False Bohring-Opitz syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011510 MONDO:0002320 False Bohring-Opitz syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011510 MONDO:0003847 False Bohring-Opitz syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011511 MONDO:0003847 False clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011512 MONDO:0015356 False Brooke-Spiegler syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011512 MONDO:0015356 False Brooke-Spiegler syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011513 MONDO:0015140 False Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011514 MONDO:0003847 False tricuspid atresia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011514 MONDO:0005453 False tricuspid atresia congenital heart disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011514 MONDO:0003847 False tricuspid atresia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011514 MONDO:0005453 False tricuspid atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011516 MONDO:0003847 False early response to neural induction gene hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011517 MONDO:0003847 False pseudohyperaldosteronism type 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011517 MONDO:0024575 False pseudohyperaldosteronism type 2 pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25072,15 +25102,15 @@ MONDO:0011520 MONDO:0020573 False systemic lupus erythematosus, susceptibility t MONDO:0011525 MONDO:0015285 False Carney complex type 2 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011533 MONDO:0005172 False temtamy preaxial brachydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011534 MONDO:0002316 False Charcot-Marie-Tooth disease type 4G motor peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011534 MONDO:0017688 False Charcot-Marie-Tooth disease type 4G disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011534 MONDO:0002316 False Charcot-Marie-Tooth disease type 4G motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011534 MONDO:0017688 False Charcot-Marie-Tooth disease type 4G disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011537 MONDO:0021147 False macrocephaly-autism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011538 MONDO:0003847 False frontoocular syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011542 MONDO:0100171 False psoriasis 6, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011544 MONDO:0017366 False paragangliomas 3 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011544 MONDO:0021227 False paragangliomas 3 adrenal gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011546 MONDO:0000153 False heterotaxy, visceral, 2, autosomal transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011547 MONDO:0011060 False cataract 31 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011547 MONDO:0011060 False cataract 31 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011548 MONDO:0000397 False cerebral palsy, ataxic, autosomal recessive ataxic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011549 MONDO:0018914 False hypotrichosis 1 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011550 MONDO:0003847 False fibromatosis, gingival, with hypertrichosis and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25091,35 +25121,35 @@ MONDO:0011556 MONDO:0100047 False basal cell carcinoma, susceptibility to, 1 bas MONDO:0011557 MONDO:0024237 False radiation sensitivity/chromosome instability syndrome, autosomal dominant inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011560 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011561 MONDO:0015140 False Alzheimer disease 6 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011571 MONDO:0007441 False deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 dentinogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011572 MONDO:0010255 False type 1 diabetes mellitus 18 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011571 MONDO:0007441 False deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 dentinogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011572 MONDO:0010255 False type 1 diabetes mellitus 18 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011573 MONDO:0100171 False psoriasis 7, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011574 MONDO:0003847 False tetralogy of fallot syndrome, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011576 MONDO:0036591 False familial hyperaldosteronism type II adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011577 MONDO:0007827 False myopathy, proximal, and ophthalmoplegia inclusion body myositis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011580 MONDO:0008935 False cerebellar ataxia and hypergonadotropic hypogonadism cerebellar ataxia-hypogonadism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011576 MONDO:0036591 False familial hyperaldosteronism type II adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011577 MONDO:0007827 False myopathy, proximal, and ophthalmoplegia inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011580 MONDO:0008935 False cerebellar ataxia and hypergonadotropic hypogonadism cerebellar ataxia-hypogonadism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011581 MONDO:0100080 False arrhythmogenic cardiomyopathy with wooly hair and keratoderma cardioectodermal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011587 MONDO:0020372 False cataract 25 early-onset sutural cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011588 MONDO:0021181 False platelet-type bleeding disorder 12 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011590 MONDO:0003847 False anisomastia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011591 MONDO:0011060 False cataract 26 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011591 MONDO:0011060 False cataract 26 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011594 MONDO:0003847 False ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011596 MONDO:0100178 False dermatitis, atopic, 2 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011597 MONDO:0100178 False dermatitis, atopic, 3 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011598 MONDO:0100178 False dermatitis, atopic, 4 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011600 MONDO:0020344 False congenital myasthenic syndrome 4A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011603 MONDO:0009332 False GNE myopathy congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0020247 False spondylo-ocular syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0800064 False spondylo-ocular syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011605 MONDO:0100118 False generalized basaloid follicular hamartoma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011606 MONDO:0007037 False baby rattle pelvis dysplasia Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011606 MONDO:0007037 False baby rattle pelvis dysplasia Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011607 MONDO:0100049 False narcolepsy 2, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011608 MONDO:0100178 False dermatitis, atopic, 5 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011609 MONDO:0100178 False dermatitis, atopic, 6 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011610 MONDO:0100477 False dimethylglycine dehydrogenase deficiency disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011611 MONDO:0003847 False short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011612 MONDO:0005560 False glycine encephalopathy brain disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011612 MONDO:0005560 False glycine encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011615 MONDO:0002242 False East Texas bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011615 MONDO:0002243 False East Texas bleeding disorder hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011617 MONDO:0003847 False arthropathy, erosive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25128,16 +25158,16 @@ MONDO:0011619 MONDO:0003847 False crumpled helices and small mouth hereditary di MONDO:0011621 MONDO:0800066 False acropectoral syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011622 MONDO:0020573 False nephrolithiasis, uric acid, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011626 MONDO:0003847 False acromegaloid features, overgrowth, cleft palate, and hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011633 MONDO:0002316 False Charcot-Marie-Tooth disease axonal type 2C motor peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011633 MONDO:0002316 False Charcot-Marie-Tooth disease axonal type 2C motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011634 MONDO:0005336 False rippling muscle disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011636 MONDO:0002254 False Diamond-Blackfan anemia 2 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011636 MONDO:0002254 False Diamond-Blackfan anemia 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011637 MONDO:0003847 False Sener syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011640 MONDO:0002254 False genitopatellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011640 MONDO:0018230 False genitopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011640 MONDO:0018230 False genitopatellar syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011641 MONDO:0003847 False baculum, congenital absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011642 MONDO:0003847 False carnitine acetyltransferase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011644 MONDO:0002970 False pars planitis ciliary body disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011644 MONDO:0006806 False pars planitis intermediate uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011644 MONDO:0002970 False pars planitis ciliary body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011644 MONDO:0006806 False pars planitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011646 MONDO:0003847 False laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011647 MONDO:0015140 False Alzheimer disease 7 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011648 MONDO:0016642 False radiation-induced meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25145,11 +25175,11 @@ MONDO:0011650 MONDO:0020573 False atrioventricular septal defect, susceptibility MONDO:0011651 MONDO:0003847 False intellectual disability, short stature, facial anomalies, and joint dislocations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011653 MONDO:0017895 False thyroid cancer, nonmedullary, 3 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011654 MONDO:0003847 False intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011655 MONDO:0003847 False alveolar soft part sarcoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011662 MONDO:0003847 False pathological gambling hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011663 MONDO:0018155 False juvenile primary lateral sclerosis lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011655 MONDO:0003847 False alveolar soft part sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011662 MONDO:0003847 False pathological gambling hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011663 MONDO:0018155 False juvenile primary lateral sclerosis lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011663 MONDO:0100227 False juvenile primary lateral sclerosis ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011669 MONDO:0004069 False hypotonia-cystinuria syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011669 MONDO:0004069 False hypotonia-cystinuria syndrome inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011672 MONDO:0003847 False persistent polyclonal B-cell lymphocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0002320 False PHACE syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011676 MONDO:0005267 False PHACE syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25157,14 +25187,14 @@ MONDO:0011676 MONDO:0015160 False PHACE syndrome multiple congenital anomalies/d MONDO:0011677 MONDO:0003847 False Megarbane syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011678 MONDO:0016893 False homozygous 11P15-p14 deletion syndrome partial deletion of the short arm of chromosome 11 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011679 MONDO:0006025 False craniosynostosis syndrome, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011679 MONDO:0015469 False craniosynostosis syndrome, autosomal recessive craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011679 MONDO:0015469 False craniosynostosis syndrome, autosomal recessive craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011680 MONDO:0017267 False autosomal recessive congenital ichthyosis 3 self-healing collodion baby UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011680 MONDO:0017778 False autosomal recessive congenital ichthyosis 3 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011680 MONDO:0019306 False autosomal recessive congenital ichthyosis 3 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011684 MONDO:0020573 False vitiligo-associated multiple autoimmune disease susceptibility 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011685 MONDO:0020573 False polysubstance abuse, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011686 MONDO:0002254 False DNA ligase IV deficiency syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011686 MONDO:0017855 False DNA ligase IV deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011686 MONDO:0002254 False DNA ligase IV deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011686 MONDO:0017855 False DNA ligase IV deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011686 MONDO:0021147 False DNA ligase IV deficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011688 MONDO:0700066 False muscular dystrophy-dystroglycanopathy type B5 myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011689 MONDO:0020573 False dyslexia, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25176,28 +25206,28 @@ MONDO:0011697 MONDO:0019517 False Waardenburg syndrome type 2C Waardenburg syndr MONDO:0011702 MONDO:0016144 False dilated cardiomyopathy 1L qualitative or quantitative defects of delta-sarcoglycan UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0005429 False spongiform encephalopathy with neuropsychiatric features prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0100198 False spongiform encephalopathy with neuropsychiatric features Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011706 MONDO:0000828 False Kufor-Rakeb syndrome juvenile-onset Parkinson disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011710 MONDO:0000724 False specific language impairment 1 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011706 MONDO:0000828 False Kufor-Rakeb syndrome juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011710 MONDO:0000724 False specific language impairment 1 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011712 MONDO:0003847 False van der Woude syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011712 MONDO:0019508 False van der Woude syndrome 2 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011713 MONDO:0018453 False melanoma-pancreatic cancer syndrome familial atypical multiple mole melanoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011713 MONDO:0018453 False melanoma-pancreatic cancer syndrome familial atypical multiple mole melanoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011714 MONDO:0003847 False partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011715 MONDO:0800063 False Seckel syndrome 2 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011716 MONDO:0003337 False acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011716 MONDO:0003337 False acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011717 MONDO:0800153 False hyperinsulinism-hyperammonemia syndrome urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011719 MONDO:0003847 False gastrointestinal stromal tumor hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011723 MONDO:0019716 False hemifacial myohyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011719 MONDO:0003847 False gastrointestinal stromal tumor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011723 MONDO:0019716 False hemifacial myohyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011726 MONDO:0003847 False peripheral arterial occlusive disease 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011727 MONDO:0020573 False anorexia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011729 MONDO:0020573 False stroke, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011730 MONDO:0004069 False fumaric aciduria inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011730 MONDO:0004069 False fumaric aciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011731 MONDO:0005020 False glucose-galactose malabsorption intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011733 MONDO:0003847 False parasomnia, sleep bruxism type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011734 MONDO:0003847 False Cardioneuromyopathy with hyaline masses and nemaline rods hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011736 MONDO:0003847 False Cree intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011737 MONDO:0017279 False parkinson disease 10 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011739 MONDO:0015356 False pancreatic cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011740 MONDO:0015356 False Carney-Stratakis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011740 MONDO:0015356 False Carney-Stratakis syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011741 MONDO:0100179 False Hirschsprung disease, susceptibility to, 6 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011742 MONDO:0100179 False Hirschsprung disease, susceptibility to, 7 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011743 MONDO:0015140 False Alzheimer disease 4 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25205,25 +25235,25 @@ MONDO:0011744 MONDO:0003847 False primary intraosseous venous malformation hered MONDO:0011745 MONDO:0003847 False duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011746 MONDO:0003847 False symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011747 MONDO:0020573 False dyslexia, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011749 MONDO:0008745 False oculocutaneous albinism type 1B oculocutaneous albinism type 1A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011749 MONDO:0008745 False oculocutaneous albinism type 1B oculocutaneous albinism type 1A UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011753 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011754 MONDO:0018541 False familial hyperreninemic hypoaldosteronism type 2 familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011758 MONDO:0002254 False Hurler syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011759 MONDO:0002254 False Hurler-Scheie syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011760 MONDO:0002254 False Scheie syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011766 MONDO:0010765 False 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011768 MONDO:0009688 False myasthenia gravis with thymus hyperplasia myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011772 MONDO:0002320 False B4GALT1-congenital disorder of glycosylation congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011773 MONDO:0016761 False anauxetic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011758 MONDO:0002254 False Hurler syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011759 MONDO:0002254 False Hurler-Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011760 MONDO:0002254 False Scheie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011766 MONDO:0010765 False 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011768 MONDO:0009688 False myasthenia gravis with thymus hyperplasia myasthenia gravis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011772 MONDO:0002320 False B4GALT1-congenital disorder of glycosylation congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011773 MONDO:0016761 False anauxetic dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011775 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011776 MONDO:0002081 False CINCA syndrome musculoskeletal system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011776 MONDO:0002081 False CINCA syndrome musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011777 MONDO:0015140 False Alzheimer disease 8 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011778 MONDO:0800463 False multiple epiphyseal dysplasia, Al-Gazali type KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011779 MONDO:0003847 False laryngeal atresia, encephalocele, and limb deformities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011781 MONDO:0000114 False spinocerebellar ataxia type 17 cerebelloparenchymal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011782 MONDO:0003847 False angioid streaks hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011782 MONDO:0003847 False angioid streaks hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011787 MONDO:0700066 False autosomal recessive limb-girdle muscular dystrophy type 2I myopathy caused by variation in FKRP UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011789 MONDO:0003847 False familial meningioma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011789 MONDO:0003847 False familial meningioma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011789 MONDO:0020573 False familial meningioma inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011790 MONDO:0001149 False Amish lethal microcephaly microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011790 MONDO:0100500 False Amish lethal microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25233,12 +25263,12 @@ MONDO:0011796 MONDO:0003847 False epilepsy, partial, with pericentral spikes her MONDO:0011797 MONDO:0100227 False infantile-onset ascending hereditary spastic paralysis ALS2-related motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011798 MONDO:0003847 False hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011802 MONDO:0002118 False hypercalciuria, absorptive, 1 urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011805 MONDO:0010940 False asthma-related traits, susceptibility to, 1 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011805 MONDO:0010940 False asthma-related traits, susceptibility to, 1 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011807 MONDO:0020573 False systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011808 MONDO:0020376 False cataract 27 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011810 MONDO:0003847 False horizontal gaze palsy with progressive scoliosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011810 MONDO:0021147 False horizontal gaze palsy with progressive scoliosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011812 MONDO:0019713 False Duane-radial ray syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011812 MONDO:0019713 False Duane-radial ray syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011813 MONDO:0019673 False polydactyly, postaxial, type A3 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011815 MONDO:0020573 False hypertension, essential, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011816 MONDO:0045017 False lathosterolosis cholesterol biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25247,60 +25277,60 @@ MONDO:0011820 MONDO:0020573 False scoliosis, isolated, susceptibility to, 2 inhe MONDO:0011821 MONDO:0800066 False Meckel syndrome, type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011823 MONDO:0002320 False developmental malformations-deafness-dystonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011825 MONDO:0003847 False streptococcus, group A, severity of infection by hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011827 MONDO:0003847 False patent ductus arteriosus hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011827 MONDO:0005385 False patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011835 MONDO:0002320 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011835 MONDO:0015653 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011827 MONDO:0003847 False patent ductus arteriosus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011827 MONDO:0005385 False patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011835 MONDO:0002320 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011835 MONDO:0015653 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011835 MONDO:0100033 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011836 MONDO:0003847 False thyroid Hurthle cell carcinoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011836 MONDO:0003847 False thyroid Hurthle cell carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011838 MONDO:0100444 False Bothnia retinal dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011839 MONDO:0100444 False Newfoundland cone-rod dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011841 MONDO:0005527 False biotin-responsive basal ganglia disease toxic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011841 MONDO:0005527 False biotin-responsive basal ganglia disease toxic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011842 MONDO:0019806 False GRN-related frontotemporal lobar degeneration with Tdp43 inclusions primary progressive aphasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011843 MONDO:0016192 False hypertrophic cardiomyopathy 25 qualitative or quantitative defects of telethonin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011843 MONDO:0016333 False hypertrophic cardiomyopathy 25 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011843 MONDO:0016333 False hypertrophic cardiomyopathy 25 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011846 MONDO:0020573 False bulimia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011848 MONDO:0003847 False headache associated with sexual activity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011849 MONDO:0002254 False psoriatic arthritis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011849 MONDO:0008383 False psoriatic arthritis rheumatoid arthritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011849 MONDO:0002254 False psoriatic arthritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011849 MONDO:0008383 False psoriatic arthritis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011853 MONDO:0003847 False Camptosynpolydactyly, complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011854 MONDO:0003847 False secretory diarrhea, myopathy, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011858 MONDO:0003847 False spastic paraplegia, ataxia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011860 MONDO:0020573 False leprosy, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011861 MONDO:0003847 False breath-holding Spells hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011862 MONDO:0015150 False hereditary spastic paraplegia 24 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011862 MONDO:0015150 False hereditary spastic paraplegia 24 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011863 MONDO:0003847 False prostate cancer aggressiveness quantitative trait locus on chromosome 19 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011867 MONDO:0003847 False microphthalmia with cyst, bilateral facial clefts, and limb anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011869 MONDO:0015550 False epidermolysis bullosa simplex superficialis suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011870 MONDO:0020702 False annular epidermolytic ichthyosis autosomal dominant epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011871 MONDO:0006025 False Niemann-Pick disease type B autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011871 MONDO:0006025 False Niemann-Pick disease type B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011871 MONDO:0100464 False Niemann-Pick disease type B acid sphingomyelinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011873 MONDO:0018982 False Niemann-Pick disease, type C2 Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011874 MONDO:0002254 False neonatal ichthyosis-sclerosing cholangitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011875 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011876 MONDO:0020573 False juvenile absence epilepsy inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011876 MONDO:0100030 False juvenile absence epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011879 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7B distal hereditary motor neuropathy type 7 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011879 MONDO:0015355 False neuronopathy, distal hereditary motor, type 7B distal hereditary motor neuropathy type 7 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011882 MONDO:0002254 False skin fragility-woolly hair-palmoplantar keratoderma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011882 MONDO:0006025 False skin fragility-woolly hair-palmoplantar keratoderma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011885 MONDO:0002254 False tubulointerstitial nephritis and uveitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011885 MONDO:0002254 False tubulointerstitial nephritis and uveitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011898 MONDO:0012014 False Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011899 MONDO:0010908 False Noonan syndrome-like disorder with loose anagen hair loose anagen syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011898 MONDO:0012014 False Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011899 MONDO:0010908 False Noonan syndrome-like disorder with loose anagen hair loose anagen syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011899 MONDO:0015160 False Noonan syndrome-like disorder with loose anagen hair multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011900 MONDO:0019212 False porokeratosis 4, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011903 MONDO:0011909 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011908 MONDO:0020311 False juvenile myelomonocytic leukemia chronic myelomonocytic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011908 MONDO:0023603 False juvenile myelomonocytic leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011903 MONDO:0011909 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0011908 MONDO:0020311 False juvenile myelomonocytic leukemia chronic myelomonocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011908 MONDO:0023603 False juvenile myelomonocytic leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011913 MONDO:0015140 False Alzheimer disease 3 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011914 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia syndrome lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011914 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011917 MONDO:0020573 False focal segmental glomerulosclerosis 3, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011918 MONDO:0003847 False anxiety hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011918 MONDO:0005618 False anxiety anxiety disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25316,8 +25346,8 @@ MONDO:0011928 MONDO:0003847 False caudal duplication hereditary disease UNSUPPOR MONDO:0011928 MONDO:0004335 False caudal duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011931 MONDO:0015356 False ovarian cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011932 MONDO:0018914 False hypotrichosis 6 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011934 MONDO:0000653 False dermatofibrosarcoma protuberans integumentary system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011934 MONDO:0023603 False dermatofibrosarcoma protuberans hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011934 MONDO:0000653 False dermatofibrosarcoma protuberans integumentary system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011934 MONDO:0023603 False dermatofibrosarcoma protuberans hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011937 MONDO:0017339 False peeling skin syndrome 4 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011938 MONDO:0100009 False atrial septal defect 2 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011939 MONDO:0002254 False Spondyloenchondrodysplasia with immune dysregulation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25327,16 +25357,16 @@ MONDO:0011942 MONDO:0020573 False systemic lupus erythematosus with nephritis, s MONDO:0011943 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011944 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011949 MONDO:0003847 False Thai symphalangism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011951 MONDO:0017161 False amyotrophic lateral sclerosis type 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011951 MONDO:0017161 False amyotrophic lateral sclerosis type 6 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011953 MONDO:0100198 False familial acute necrotizing encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011955 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 4 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011955 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 4 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011955 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 4 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011958 MONDO:0003847 False bile and pancreatic ducts, complete absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy type 1B hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy type 1B hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011973 MONDO:0003847 False zinc deficiency, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700021 False paternal uniparental disomy of chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700086 False paternal uniparental disomy of chromosome 14 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25347,26 +25377,26 @@ MONDO:0011981 MONDO:0000162 False autoimmune thyroid disease, susceptibility to, MONDO:0011982 MONDO:0000162 False autoimmune thyroid disease, susceptibility to, 3 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011983 MONDO:0000162 False autoimmune thyroid disease, susceptibility to, 4 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011984 MONDO:0000722 False synpolydactyly type 2 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011984 MONDO:0011348 False synpolydactyly type 2 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011984 MONDO:0011348 False synpolydactyly type 2 non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011984 MONDO:0800066 False synpolydactyly type 2 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011986 MONDO:0008185 False tropical pancreatitis hereditary chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011988 MONDO:0017855 False neutrophil immunodeficiency syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011986 MONDO:0008185 False tropical pancreatitis hereditary chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011988 MONDO:0017855 False neutrophil immunodeficiency syndrome T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011989 MONDO:0100120 False leishmaniasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011993 MONDO:0003847 False aspirin resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011995 MONDO:0021147 False cataract - congenital heart disease - neural tube defect syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011996 MONDO:0023603 False chronic myelogenous leukemia, BCR-ABL1 positive hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011996 MONDO:0023603 False chronic myelogenous leukemia, BCR-ABL1 positive hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011998 MONDO:0015358 False autosomal dominant slowed nerve conduction velocity hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012000 MONDO:0003847 False specific phobia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012000 MONDO:0003847 False specific phobia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012001 MONDO:0003847 False mandibulofacial dysostosis with ptosis, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012004 MONDO:0003847 False parathyroid gland carcinoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012004 MONDO:0003847 False parathyroid gland carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012005 MONDO:0003847 False growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012006 MONDO:0015469 False craniosynostosis with ocular abnormalities and hallucal defects craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012006 MONDO:0015469 False craniosynostosis with ocular abnormalities and hallucal defects craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012007 MONDO:0003847 False scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012009 MONDO:0020573 False coronary heart disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012010 MONDO:0020573 False coronary heart disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012011 MONDO:0003847 False coronary artery disease, autosomal dominant, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012011 MONDO:0005010 False coronary artery disease, autosomal dominant, 1 coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012016 MONDO:0003847 False capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012016 MONDO:0003847 False capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012024 MONDO:0800401 False retinitis pigmentosa 26 CERKL-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012025 MONDO:0003847 False branchiootic syndrome 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012025 MONDO:0018878 False branchiootic syndrome 3 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25381,9 +25411,9 @@ MONDO:0012039 MONDO:0020573 False myocardial infarction, susceptibility to inher MONDO:0012042 MONDO:0100179 False Hirschsprung disease, susceptibility to, 8 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012044 MONDO:0000764 False corneal dystrophy, lattice type 3A epithelial-stromal TGFBI dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012044 MONDO:0004686 False corneal dystrophy, lattice type 3A lattice corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012046 MONDO:0005349 False congenital corneal opacities, cornea guttata, and corectopia otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012046 MONDO:0005349 False congenital corneal opacities, cornea guttata, and corectopia otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012047 MONDO:0003847 False alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012048 MONDO:0003847 False endogenous depression hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012048 MONDO:0003847 False endogenous depression hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012050 MONDO:0020573 False major depressive disorder 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012051 MONDO:0005593 False periodontitis, aggressive, 2 chronic periodontitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012056 MONDO:0800101 False Leber congenital amaurosis 9 NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25392,38 +25422,38 @@ MONDO:0012058 MONDO:0020573 False myocardial infarction, susceptibility to, 2 in MONDO:0012059 MONDO:0019673 False polydactyly, postaxial, type A4 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012061 MONDO:0001823 False familial sick sinus syndrome sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012061 MONDO:0003847 False familial sick sinus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012064 MONDO:0003847 False choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012067 MONDO:0010940 False asthma-related traits, susceptibility to, 2 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012064 MONDO:0003847 False choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012067 MONDO:0010940 False asthma-related traits, susceptibility to, 2 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012068 MONDO:0003847 False brachial palsy, familial congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012071 MONDO:0018883 False congenital generalized lipodystrophy type 1 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012074 MONDO:0021106 False mandibuloacral dysplasia with type B lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012074 MONDO:0021106 False mandibuloacral dysplasia with type B lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012075 MONDO:0003847 False oligodontia-cancer predisposition syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012076 MONDO:0003847 False midface hypoplasia, obesity, developmental delay, and neonatal hypotonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012078 MONDO:0016364 False Joubert syndrome 3 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012080 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2B distal hereditary motor neuropathy type 2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012080 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2B distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012089 MONDO:0002051 False ichthyosis prematurity syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012089 MONDO:0002254 False ichthyosis prematurity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012089 MONDO:0003847 False ichthyosis prematurity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012089 MONDO:0043905 False ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012093 MONDO:0023122 False prostate cancer, hereditary, 3 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012094 MONDO:0023122 False prostate cancer, hereditary, 4 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012089 MONDO:0002254 False ichthyosis prematurity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012089 MONDO:0003847 False ichthyosis prematurity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012089 MONDO:0043905 False ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012093 MONDO:0023122 False prostate cancer, hereditary, 3 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012094 MONDO:0023122 False prostate cancer, hereditary, 4 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012095 MONDO:0003847 False intellectual disability-brachydactyly-Pierre Robin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012097 MONDO:0010180 False spondylocostal dysostosis 2, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0002320 False AICA-ribosiduria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012099 MONDO:0015159 False AICA-ribosiduria multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012099 MONDO:0015327 False AICA-ribosiduria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012099 MONDO:0015159 False AICA-ribosiduria multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012099 MONDO:0015327 False AICA-ribosiduria developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0020242 False AICA-ribosiduria hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012100 MONDO:0020573 False major depressive disorder 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012101 MONDO:0020367 False glaucoma 1, open angle, J juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012102 MONDO:0020367 False glaucoma 1, open angle, K juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012104 MONDO:0027767 False acquired partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012105 MONDO:0002462 False granulomatosis with polyangiitis glomerulonephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012104 MONDO:0027767 False acquired partial lipodystrophy partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012105 MONDO:0002462 False granulomatosis with polyangiitis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012107 MONDO:0003847 False neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012108 MONDO:0100510 False spondyloepimetaphyseal dysplasia, matrilin-3 type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012109 MONDO:0020573 False hypertension, essential, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012110 MONDO:0003847 False growth delay due to insulin-like growth factor type 1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012113 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012114 MONDO:0020066 False Ehlers-Danlos syndrome, Beasley-Cohen type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012114 MONDO:0020066 False Ehlers-Danlos syndrome, Beasley-Cohen type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012115 MONDO:0020573 False scoliosis, isolated, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012124 MONDO:0003847 False sudden infant death-dysgenesis of the testes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012124 MONDO:0005087 False sudden infant death-dysgenesis of the testes syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25435,14 +25465,14 @@ MONDO:0012131 MONDO:0005172 False metaphyseal undermodeling, spondylar dysplasia MONDO:0012132 MONDO:0015356 False colorectal cancer, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012133 MONDO:0003847 False lateral semicircular canal malformation, familial, with external and middle ear abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012134 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012137 MONDO:0015285 False Carney complex - trismus - pseudocamptodactyly syndrome Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012137 MONDO:0015285 False Carney complex - trismus - pseudocamptodactyly syndrome Carney complex UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012141 MONDO:0020573 False orofacial cleft 6, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0015420 False orofacial cleft 5 cleft lip and alveolus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0016043 False orofacial cleft 5 isolated cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012142 MONDO:0016044 False orofacial cleft 5 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012143 MONDO:0000508 False hereditary cryohydrocytosis with reduced stomatin syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012143 MONDO:0003689 False hereditary cryohydrocytosis with reduced stomatin familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012143 MONDO:0017706 False hereditary cryohydrocytosis with reduced stomatin disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012143 MONDO:0017706 False hereditary cryohydrocytosis with reduced stomatin disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012144 MONDO:0019517 False Waardenburg syndrome type 2D Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012147 MONDO:0020573 False coronary heart disease, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012149 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25450,42 +25480,42 @@ MONDO:0012150 MONDO:0020573 False attention deficit-hyperactivity disorder, susc MONDO:0012151 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012152 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012153 MONDO:0020573 False Alzheimer disease 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012155 MONDO:0018751 False choanal atresia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012156 MONDO:0011088 False myasthenic syndrome, congenital, 1B, fast-channel congenital myasthenic syndrome 1A UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012155 MONDO:0018751 False choanal atresia hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012156 MONDO:0011088 False myasthenic syndrome, congenital, 1B, fast-channel congenital myasthenic syndrome 1A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012157 MONDO:0020344 False congenital myasthenic syndrome 4C postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012159 MONDO:0015356 False lung cancer susceptibility 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012161 MONDO:0015979 False susceptibility to respiratory infections associated with CD8alpha chain mutation hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012161 MONDO:0015979 False susceptibility to respiratory infections associated with CD8alpha chain mutation hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012163 MONDO:0044200 False immunodeficiency 104 T-B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012164 MONDO:0002254 False Meacham syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012164 MONDO:0003847 False Meacham syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012165 MONDO:0000110 False BNAR syndrome bifid nose UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012165 MONDO:0000110 False BNAR syndrome bifid nose UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012165 MONDO:0002254 False BNAR syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012166 MONDO:0100311 False autosomal dominant sensory ataxia 1 sensory ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012168 MONDO:0020573 False dyslexia, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012171 MONDO:0003847 False marfanoid habitus with situs inversus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012173 MONDO:0024573 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012173 MONDO:0024573 False long chain 3-hydroxyacyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012174 MONDO:0003847 False peripheral cone dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012176 MONDO:0003847 False Emanuel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012177 MONDO:0100449 False posterior column ataxia-retinitis pigmentosa syndrome FLVCR1-related retinopathy with or without ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012178 MONDO:0003847 False intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012179 MONDO:0016158 False narcolepsy 3 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012181 MONDO:0015150 False hereditary spastic paraplegia 27 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012181 MONDO:0015150 False hereditary spastic paraplegia 27 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012182 MONDO:0003847 False skeletal dysplasia, rhizomelic, with retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012184 MONDO:0013621 False Pierson syndrome LAMB2-related infantile-onset nephrotic syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012188 MONDO:0019262 False neuronal ceroid lipofuscinosis 9 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012192 MONDO:0015327 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012184 MONDO:0013621 False Pierson syndrome LAMB2-related infantile-onset nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012188 MONDO:0019262 False neuronal ceroid lipofuscinosis 9 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012192 MONDO:0015327 False permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012197 MONDO:0700007 False idiopathic aplastic anemia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012202 MONDO:0021024 False malaria, mild, susceptibility to malaria, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012202 MONDO:0021024 False malaria, mild, susceptibility to malaria, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012204 MONDO:0003689 False familial pseudohyperkalemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012205 MONDO:0021095 False autosomal dominant striatal neurodegeneration type 1 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012206 MONDO:0016761 False Czech dysplasia, metatarsal type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012207 MONDO:0003847 False umbilicus, familial flat hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012209 MONDO:0015160 False branchiogenic deafness syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0002320 False myofibrillar myopathy 3 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012215 MONDO:0015151 False myofibrillar myopathy 3 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012215 MONDO:0002320 False myofibrillar myopathy 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012215 MONDO:0015151 False myofibrillar myopathy 3 muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012216 MONDO:0002254 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012216 MONDO:0019216 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012216 MONDO:0020249 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012216 MONDO:0019216 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012216 MONDO:0020249 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0017195 False Bruck syndrome 2 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0800064 False Bruck syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012218 MONDO:0003847 False dandy-walker malformation with occipital cephalocele, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25501,8 +25531,8 @@ MONDO:0012240 MONDO:0100196 False congenital myopathy 23 TPM2-related myopathy U MONDO:0012241 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012242 MONDO:0003847 False syncope, familial vasovagal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012243 MONDO:0003847 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012244 MONDO:0023122 False prostate cancer, hereditary, 5 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012244 MONDO:0023122 False prostate cancer, hereditary, 5 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012248 MONDO:0700070 False autosomal recessive limb-girdle muscular dystrophy type 2K myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012251 MONDO:0100118 False MEDNIK syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012255 MONDO:0003847 False chromosome 18 pericentric inversion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25511,48 +25541,45 @@ MONDO:0012255 MONDO:0700125 False chromosome 18 pericentric inversion chromosome MONDO:0012257 MONDO:0002254 False Cerebrorenodigital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012259 MONDO:0003847 False colloid cysts of third ventricle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012260 MONDO:0020376 False cataract 35 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012262 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 3c congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012262 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 3c congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012263 MONDO:0020573 False autoimmune disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012268 MONDO:0003780 False AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012268 MONDO:0003780 False AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012271 MONDO:0800066 False mesoaxial synostotic syndactyly with phalangeal reduction polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012272 MONDO:0003847 False intellectual disability, keratoconus, febrile seizures, and sinoatrial block hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012277 MONDO:0002320 False myofibrillar myopathy 4 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012278 MONDO:0019037 False supranuclear palsy, progressive, 2 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012277 MONDO:0002320 False myofibrillar myopathy 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012280 MONDO:0021189 False Goldberg-Shprintzen megacolon syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0002254 False Al-Gazali syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0003847 False Al-Gazali syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012282 MONDO:0005172 False Al-Gazali syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012282 MONDO:0019054 False Al-Gazali syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012282 MONDO:0019054 False Al-Gazali syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012283 MONDO:0003847 False cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012284 MONDO:0003847 False nephropathy, progressive, with deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012286 MONDO:0010684 False myopathy, autophagic vacuolar, infantile-onset X-linked myopathy with excessive autophagy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012287 MONDO:0007160 False Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012286 MONDO:0010684 False myopathy, autophagic vacuolar, infantile-onset X-linked myopathy with excessive autophagy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012287 MONDO:0007160 False Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012288 MONDO:0003847 False iridogoniodysgenesis and skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012289 MONDO:0002320 False myofibrillar myopathy 5 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012289 MONDO:0002320 False myofibrillar myopathy 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012291 MONDO:0001341 False immunoglobulin A deficiency 2 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012292 MONDO:0015979 False hepatitis C virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012295 MONDO:0000015 False complement component 5 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012295 MONDO:0015700 False complement component 5 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012296 MONDO:0018075 False lipomyelomeningocele neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012296 MONDO:0018075 False lipomyelomeningocele neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012298 MONDO:0003847 False omphalocele, diaphragmatic hernia, and radial ray defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012300 MONDO:0023122 False prostate cancer, hereditary, 6 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012310 MONDO:0007614 False fibrosis of extraocular muscles, congenital, with synergistic divergence congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012300 MONDO:0023122 False prostate cancer, hereditary, 6 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012310 MONDO:0007614 False fibrosis of extraocular muscles, congenital, with synergistic divergence congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012311 MONDO:0003847 False spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0005046 False Majeed syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012316 MONDO:0023603 False Majeed syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012317 MONDO:0017574 False visceral neuropathy, familial, 3, autosomal dominant chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012318 MONDO:0015356 False leukemia, chronic lymphocytic, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012319 MONDO:0003847 False major affective disorder 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012319 MONDO:0004985 False major affective disorder 3 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012321 MONDO:0015140 False Alzheimer disease 10 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012322 MONDO:0017219 False holoprosencephaly 5 microform holoprosencephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012322 MONDO:0017219 False holoprosencephaly 5 microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012322 MONDO:0019756 False holoprosencephaly 5 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012322 MONDO:0019757 False holoprosencephaly 5 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012323 MONDO:0015550 False lethal acantholytic epidermolysis bullosa suprabasal epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012325 MONDO:0003847 False Nguyen syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012328 MONDO:0003847 False trichilemmal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012329 MONDO:0003847 False short stature and Facioauriculothoracic malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012336 MONDO:0011060 False cataract 22 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012336 MONDO:0011060 False cataract 22 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012338 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012339 MONDO:0020573 False celiac disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012340 MONDO:0020573 False celiac disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25564,7 +25591,7 @@ MONDO:0012350 MONDO:0005334 False complement factor H deficiency hereditary neph MONDO:0012350 MONDO:0018013 False complement factor H deficiency non-immunoglobulin-mediated membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012352 MONDO:0003847 False vasculitis, lymphocytic, cutaneous small vessel hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012358 MONDO:0015979 False leprosy, susceptibility to, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012359 MONDO:0017855 False combined immunodeficiency due to partial RAG1 deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012359 MONDO:0017855 False combined immunodeficiency due to partial RAG1 deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012360 MONDO:0019995 False congenital nongoitrous hypothryoidism 3 peripheral resistance to thyroid hormones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012361 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012367 MONDO:0700233 False retinitis pigmentosa 31 TOPORS-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25572,20 +25599,20 @@ MONDO:0012368 MONDO:0004736 False aminoacylase 1 deficiency inborn disorder of a MONDO:0012369 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012373 MONDO:0003847 False ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012374 MONDO:0003847 False brachyphalangy, polydactyly, and tibial aplasia/hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012379 MONDO:0010940 False asthma-related traits, susceptibility to, 3 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012379 MONDO:0010940 False asthma-related traits, susceptibility to, 3 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012385 MONDO:0003847 False metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012386 MONDO:0003847 False trichoscyphodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012387 MONDO:0002254 False osteosclerosis-ichthyosis-premature ovarian failure syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012390 MONDO:0003847 False arthrogryposis multiplex with deafness, inguinal hernias, and early death hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012391 MONDO:0010830 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012391 MONDO:0015905 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012391 MONDO:0010830 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0012391 MONDO:0015905 False neuronal ceroid lipofuscinosis 8 northern epilepsy variant syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012397 MONDO:0003847 False brachydactyly, coloboma, and anterior segment dysgenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012398 MONDO:0003847 False retinal cone dystrophy 3A hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012398 MONDO:0018852 False retinal cone dystrophy 3A achromatopsia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012399 MONDO:0016162 False complex cortical dysplasia with other brain malformations 7 bilateral frontal polymicrogyria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012400 MONDO:0002254 False cortical dysplasia-focal epilepsy syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012398 MONDO:0003847 False retinal cone dystrophy 3A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012398 MONDO:0018852 False retinal cone dystrophy 3A achromatopsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012399 MONDO:0016162 False complex cortical dysplasia with other brain malformations 7 bilateral frontal polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012400 MONDO:0002254 False cortical dysplasia-focal epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012400 MONDO:0016377 False cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012401 MONDO:0003847 False congenital stromal corneal dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012401 MONDO:0003847 False congenital stromal corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012402 MONDO:0020573 False opioid dependence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012403 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012404 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25593,26 +25620,26 @@ MONDO:0012406 MONDO:0015027 False hyperparathyroidism 3 familial isolated hyperp MONDO:0012406 MONDO:0019060 False hyperparathyroidism 3 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012406 MONDO:0023603 False hyperparathyroidism 3 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012406 MONDO:0800096 False hyperparathyroidism 3 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012407 MONDO:0015653 False pyridoxal phosphate-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012407 MONDO:0015653 False pyridoxal phosphate-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012407 MONDO:0100033 False pyridoxal phosphate-responsive seizures metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012408 MONDO:0012409 False microphthalmia, isolated, with coloboma 3 isolated microphthalmia 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012408 MONDO:0012409 False microphthalmia, isolated, with coloboma 3 isolated microphthalmia 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012409 MONDO:0016764 False isolated microphthalmia 2 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012412 MONDO:0000015 False complement component 7 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012412 MONDO:0015700 False complement component 7 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012414 MONDO:0015674 False neuronal ceroid lipofuscinosis 10 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012414 MONDO:0019260 False neuronal ceroid lipofuscinosis 10 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012414 MONDO:0019262 False neuronal ceroid lipofuscinosis 10 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012414 MONDO:0015674 False neuronal ceroid lipofuscinosis 10 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012414 MONDO:0019260 False neuronal ceroid lipofuscinosis 10 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012414 MONDO:0019262 False neuronal ceroid lipofuscinosis 10 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012415 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012416 MONDO:0003847 False Devriendt syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012417 MONDO:0000426 False heart-hand syndrome, Slovenian type autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012422 MONDO:0010255 False type 1 diabetes mellitus 19 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012422 MONDO:0010255 False type 1 diabetes mellitus 19 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012423 MONDO:0003847 False MORM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012426 MONDO:0015703 False immunodeficiency 25 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012428 MONDO:0003847 False kyphoscoliosis 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012432 MONDO:0009480 False Joubert syndrome 5 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012432 MONDO:0009480 False Joubert syndrome 5 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012432 MONDO:0100451 False Joubert syndrome 5 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012433 MONDO:0100451 False Senior-Loken syndrome 6 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012437 MONDO:0011060 False cataract 21 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012437 MONDO:0011060 False cataract 21 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012444 MONDO:0017998 False neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012446 MONDO:0100118 False seborrhea-like dermatitis with psoriasiform elements hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012447 MONDO:0000722 False synpolydactyly type 3 non-syndromic synpolydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25621,7 +25648,7 @@ MONDO:0012451 MONDO:0005361 False esophagitis, eosinophilic, 1 eosinophilic esop MONDO:0012454 MONDO:0003847 False alcohol sensitivity, acute hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0020683 False alcohol sensitivity, acute acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012454 MONDO:0021698 False alcohol sensitivity, acute alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012455 MONDO:0003847 False Kleefstra syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012455 MONDO:0003847 False Kleefstra syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012458 MONDO:0020573 False hypertension, essential, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012459 MONDO:0020573 False hypertension, essential, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012462 MONDO:0005560 False autosomal recessive frontotemporal pachygyria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25629,44 +25656,44 @@ MONDO:0012462 MONDO:0021147 False autosomal recessive frontotemporal pachygyria MONDO:0012465 MONDO:0009332 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012466 MONDO:0020573 False Parkinson disease 13, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012468 MONDO:0003847 False rhizomelic dysplasia, scoliosis, and retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012470 MONDO:0023122 False prostate cancer, hereditary, 7 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012470 MONDO:0023122 False prostate cancer, hereditary, 7 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012473 MONDO:0003847 False right pulmonary artery, anomalous origin of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012476 MONDO:0700055 False hereditary spastic paraplegia 30 KIF1A related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012477 MONDO:0800098 False retinitis pigmentosa 33 SNRNP200-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012480 MONDO:0020525 False diabetes mellitus, transient neonatal, 2 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012481 MONDO:0005328 False mevalonic aciduria eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012481 MONDO:0005328 False mevalonic aciduria eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012482 MONDO:0015979 False West Nile virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012484 MONDO:0003227 False prosopagnosia, hereditary prosopagnosia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012484 MONDO:0003847 False prosopagnosia, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012486 MONDO:0003847 False preauricular tag, isolated, autosomal dominant, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012488 MONDO:0020573 False hepatitis B virus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012489 MONDO:0011060 False cataract 23 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012489 MONDO:0011060 False cataract 23 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012490 MONDO:0002320 False cone-rod synaptic disorder, congenital nonprogressive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012490 MONDO:0016293 False cone-rod synaptic disorder, congenital nonprogressive congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012490 MONDO:0016293 False cone-rod synaptic disorder, congenital nonprogressive congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012494 MONDO:0003847 False testicular microlithiasis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012496 MONDO:0003847 False Koolen-de Vries syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012497 MONDO:0002320 False congenital stationary night blindness autosomal dominant 3 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012498 MONDO:0002320 False congenital stationary night blindness autosomal dominant 1 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012497 MONDO:0002320 False congenital stationary night blindness autosomal dominant 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012498 MONDO:0002320 False congenital stationary night blindness autosomal dominant 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012499 MONDO:0015979 False Buruli ulcer, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012502 MONDO:0019052 False normophosphatemic familial tumoral calcinosis inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012507 MONDO:0015993 False retinal cone dystrophy 4 cone-rod dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012502 MONDO:0019052 False normophosphatemic familial tumoral calcinosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012507 MONDO:0015993 False retinal cone dystrophy 4 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012507 MONDO:0700244 False retinal cone dystrophy 4 CACNA2D4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012508 MONDO:0001902 False agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome congenital agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012511 MONDO:0003847 False preterm premature rupture of the membranes hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012511 MONDO:0003847 False preterm premature rupture of the membranes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012515 MONDO:0020367 False glaucoma 1, open angle, M juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012517 MONDO:0100517 False Gaucher disease due to saposin C deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012519 MONDO:0022752 False Rubinstein-Taybi syndrome due to 16p13.3 microdeletion chromosome 16p13.3 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012520 MONDO:0001933 False insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012520 MONDO:0003847 False insulin-resistance syndrome type A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012520 MONDO:0001933 False insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012520 MONDO:0003847 False insulin-resistance syndrome type A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012521 MONDO:0004609 False herpes simplex encephalitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012522 MONDO:0020525 False diabetes mellitus, transient neonatal, 3 transient neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012524 MONDO:0003847 False corticosterone methyloxidase type 2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012524 MONDO:0018541 False corticosterone methyloxidase type 2 deficiency familial hypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012525 MONDO:0700235 False Leber congenital amaurosis 12 RD3-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012527 MONDO:0011060 False cataract 11 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012528 MONDO:0018800 False hypogonadotropic hypogonadism 4 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012527 MONDO:0011060 False cataract 11 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012528 MONDO:0018800 False hypogonadotropic hypogonadism 4 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012530 MONDO:0006025 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012531 MONDO:0016354 False xeroderma pigmentosum group B xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012531 MONDO:0016354 False xeroderma pigmentosum group B xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012535 MONDO:0003847 False holoprosencephaly, recurrent infections, and monocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012536 MONDO:0800064 False osteogenesis imperfecta type 7 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012537 MONDO:0018050 False split-hand/foot malformation with long bone deficiency 2 tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25679,25 +25706,24 @@ MONDO:0012546 MONDO:0019006 False nephrotic syndrome, type 3 familial idiopathic MONDO:0012550 MONDO:0003847 False iris pattern hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012551 MONDO:0019080 False alopecia areata 2 alopecia totalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012555 MONDO:0019713 False Cornelia de Lange syndrome 3 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012556 MONDO:0002254 False DK1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012556 MONDO:0002254 False DK1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012556 MONDO:0100118 False DK1-congenital disorder of glycosylation hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0006025 False cardiomyopathy-hypotonia-lactic acidosis syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012557 MONDO:0006040 False cardiomyopathy-hypotonia-lactic acidosis syndrome lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012557 MONDO:0024573 False cardiomyopathy-hypotonia-lactic acidosis syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012557 MONDO:0024573 False cardiomyopathy-hypotonia-lactic acidosis syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012558 MONDO:0003847 False epiphyseal dysplasia, Baumann type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012559 MONDO:0003847 False primary immunodeficiency syndrome due to p14 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012563 MONDO:0017219 False holoprosencephaly 9 microform holoprosencephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012563 MONDO:0017219 False holoprosencephaly 9 microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012563 MONDO:0019756 False holoprosencephaly 9 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012563 MONDO:0019757 False holoprosencephaly 9 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012564 MONDO:0003847 False Polyosteolysis-hyperostosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012568 MONDO:0020573 False osteoarthritis susceptibility 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012570 MONDO:0100118 False body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012572 MONDO:0003847 False Sakoda complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012574 MONDO:0002254 False Potocki-Lupski syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012576 MONDO:0019037 False supranuclear palsy, progressive, 3 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012577 MONDO:0010940 False asthma-related traits, susceptibility to, 4 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012574 MONDO:0002254 False Potocki-Lupski syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012577 MONDO:0010940 False asthma-related traits, susceptibility to, 4 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012579 MONDO:0001437 False autoimmune pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012579 MONDO:0007179 False autoimmune pulmonary alveolar proteinosis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012579 MONDO:0007179 False autoimmune pulmonary alveolar proteinosis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012580 MONDO:0001437 False hereditary pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012580 MONDO:0003847 False hereditary pulmonary alveolar proteinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012581 MONDO:0800064 False osteogenesis imperfecta type 8 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25706,7 +25732,7 @@ MONDO:0012585 MONDO:0020573 False coronary heart disease, susceptibility to, 7 i MONDO:0012586 MONDO:0003847 False coronary artery disease, autosomal dominant 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012586 MONDO:0005010 False coronary artery disease, autosomal dominant 2 coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012587 MONDO:0020573 False hypertension, essential, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012588 MONDO:0015674 False neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012588 MONDO:0015674 False neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012591 MONDO:0800064 False osteogenesis imperfecta type 5 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012592 MONDO:0800064 False osteogenesis imperfecta type 11 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0002254 False brain-lung-thyroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25714,15 +25740,15 @@ MONDO:0012593 MONDO:0003847 False brain-lung-thyroid syndrome hereditary disease MONDO:0012593 MONDO:0005151 False brain-lung-thyroid syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0005395 False brain-lung-thyroid syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012595 MONDO:0015979 False leprosy, susceptibility to, 4 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012597 MONDO:0023122 False prostate cancer, hereditary, 9 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012597 MONDO:0023122 False prostate cancer, hereditary, 9 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012599 MONDO:0020573 False hypertension, essential, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012604 MONDO:0016764 False isolated microphthalmia 3 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012606 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 2 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012609 MONDO:0015140 False Alzheimer disease 12 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012620 MONDO:0023122 False prostate cancer, hereditary, 10 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012620 MONDO:0023122 False prostate cancer, hereditary, 10 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012621 MONDO:0002254 False deafness-infertility syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012624 MONDO:0017713 False acyl-CoA dehydrogenase 9 deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012624 MONDO:0017713 False acyl-CoA dehydrogenase 9 deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0100451 False Meckel syndrome, type 4 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0800066 False Meckel syndrome, type 4 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012627 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25732,26 +25758,26 @@ MONDO:0012630 MONDO:0015140 False Alzheimer disease 13 early-onset autosomal dom MONDO:0012631 MONDO:0015140 False Alzheimer disease 14 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012634 MONDO:0003847 False craniofacial dysplasia - osteopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012634 MONDO:0021147 False craniofacial dysplasia - osteopenia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0002254 False COG1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012637 MONDO:0005267 False COG1-congenital disorder of glycosylation heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012638 MONDO:0004884 False microphthalmia-brain atrophy syndrome eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012639 MONDO:0015150 False hereditary spastic paraplegia 18 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012637 MONDO:0002254 False COG1-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012637 MONDO:0005267 False COG1-congenital disorder of glycosylation heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012638 MONDO:0004884 False microphthalmia-brain atrophy syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012639 MONDO:0015150 False hereditary spastic paraplegia 18 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012642 MONDO:0003847 False major affective disorder 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012642 MONDO:0004985 False major affective disorder 4 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012645 MONDO:0020367 False glaucoma 1, open angle, N juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012650 MONDO:0017855 False Cernunnos-XLF deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012650 MONDO:0017855 False Cernunnos-XLF deficiency T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012655 MONDO:0020573 False myoclonic epilepsy, juvenile, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012657 MONDO:0003847 False Mungan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012658 MONDO:0100521 False brachydactyly type B2 NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012660 MONDO:0015979 False susceptibility to visceral leishmaniasis, 2 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012661 MONDO:0015979 False susceptibility to visceral leishmaniasis, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012665 MONDO:0011060 False cataract 33 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012666 MONDO:0010940 False asthma-related traits, susceptibility to, 6 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012665 MONDO:0011060 False cataract 33 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012666 MONDO:0010940 False asthma-related traits, susceptibility to, 6 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012668 MONDO:0003847 False Tented eyebrows hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012669 MONDO:0019755 False Legius syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012669 MONDO:0020297 False Legius syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012669 MONDO:0019755 False Legius syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012669 MONDO:0020297 False Legius syndrome Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012669 MONDO:0100118 False Legius syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012672 MONDO:0006026 False cholelithiasis urinary bladder disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012672 MONDO:0006026 False cholelithiasis urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012673 MONDO:0015356 False colorectal cancer, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012685 MONDO:0003847 False major affective disorder 5 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012685 MONDO:0004985 False major affective disorder 5 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25759,14 +25785,14 @@ MONDO:0012686 MONDO:0003847 False major affective disorder 6 hereditary disease MONDO:0012686 MONDO:0004985 False major affective disorder 6 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012687 MONDO:0003847 False familial cavitary optic disk anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012687 MONDO:0005328 False familial cavitary optic disk anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012688 MONDO:0011060 False cataract 17 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012688 MONDO:0011060 False cataract 17 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012692 MONDO:0003847 False renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012695 MONDO:0800066 False Meckel syndrome, type 5 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012698 MONDO:0019517 False Waardenburg syndrome type 2E Waardenburg syndrome type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012699 MONDO:0700067 False autosomal recessive limb-girdle muscular dystrophy type 2M myopathy caused by variation in FKTN UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012700 MONDO:0003689 False renal tubular acidosis, distal, 4, with hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012702 MONDO:0020573 False celiac disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012703 MONDO:0015148 False lissencephaly due to TUBA1A mutation lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012703 MONDO:0015148 False lissencephaly due to TUBA1A mutation lissencephaly type 3 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012708 MONDO:0018155 False primary lateral sclerosis, adult, 1 lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012710 MONDO:0100179 False Hirschsprung disease, susceptibility to, 9 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012711 MONDO:0003847 False peripapillary atrophy, beta type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25776,41 +25802,41 @@ MONDO:0012717 MONDO:0018101 False renal hypomagnesemia 4 familial primary hypoma MONDO:0012719 MONDO:0100517 False combined PSAP deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012720 MONDO:0015905 False Krabbe disease due to saposin A deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012720 MONDO:0100517 False Krabbe disease due to saposin A deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012721 MONDO:0002320 False progressive myoclonic epilepsy type 3 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012721 MONDO:0015286 False progressive myoclonic epilepsy type 3 congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012721 MONDO:0002320 False progressive myoclonic epilepsy type 3 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012721 MONDO:0015286 False progressive myoclonic epilepsy type 3 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012722 MONDO:0003847 False Dauwerse-Peters syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012723 MONDO:0022410 False Leber congenital amaurosis 10 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012723 MONDO:0100451 False Leber congenital amaurosis 10 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0002254 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0004995 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012726 MONDO:0800461 False autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012727 MONDO:0003847 False mucocutaneous lymph node syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012727 MONDO:0003847 False mucocutaneous lymph node syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012731 MONDO:0003689 False elliptocytosis 1 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012731 MONDO:0017319 False elliptocytosis 1 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012732 MONDO:0003847 False tremor, hereditary essential, and idiopathic normal pressure hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012732 MONDO:0700007 False tremor, hereditary essential, and idiopathic normal pressure hydrocephalus idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012733 MONDO:0700239 False autosomal recessive bestrophinopathy BEST1-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012734 MONDO:0009299 False SERKAL syndrome 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012734 MONDO:0009299 False SERKAL syndrome 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012735 MONDO:0100485 False Temple-Baraitser syndrome KCNH1 associated disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012739 MONDO:0002254 False microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012739 MONDO:0024458 False microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012740 MONDO:0018923 False chromosome 22q11.2 deletion syndrome, distal 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012741 MONDO:0023122 False prostate cancer, hereditary, 12 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012740 MONDO:0018923 False chromosome 22q11.2 deletion syndrome, distal 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012741 MONDO:0023122 False prostate cancer, hereditary, 12 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012747 MONDO:0003689 False glycogen storage disease due to aldolase A deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012747 MONDO:0017688 False glycogen storage disease due to aldolase A deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012747 MONDO:0017688 False glycogen storage disease due to aldolase A deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012747 MONDO:0020585 False glycogen storage disease due to aldolase A deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012749 MONDO:0003847 False mesomelic dysplasia, camera type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012758 MONDO:0023122 False prostate cancer, hereditary, 13 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012758 MONDO:0023122 False prostate cancer, hereditary, 13 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012759 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 3 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012760 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012763 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012768 MONDO:0023122 False prostate cancer, hereditary, 11 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012769 MONDO:0023122 False prostate cancer, hereditary, 14 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012770 MONDO:0023122 False prostate cancer, hereditary, 15 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012771 MONDO:0010940 False asthma-related traits, susceptibility to, 7 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012768 MONDO:0023122 False prostate cancer, hereditary, 11 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012769 MONDO:0023122 False prostate cancer, hereditary, 14 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012770 MONDO:0023122 False prostate cancer, hereditary, 15 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012771 MONDO:0010940 False asthma-related traits, susceptibility to, 7 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012772 MONDO:0003847 False Stevenson-Carey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012773 MONDO:0003847 False Hunter-Macdonald syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012774 MONDO:0002320 False chromosome 15q13.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012774 MONDO:0002320 False chromosome 15q13.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012776 MONDO:0020573 False celiac disease, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012777 MONDO:0020573 False celiac disease, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012778 MONDO:0020573 False celiac disease, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25818,23 +25844,23 @@ MONDO:0012779 MONDO:0020573 False celiac disease, susceptibility to, 10 inherite MONDO:0012780 MONDO:0020573 False celiac disease, susceptibility to, 11 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012781 MONDO:0020573 False celiac disease, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012782 MONDO:0020573 False celiac disease, susceptibility to, 13 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012787 MONDO:0015905 False hereditary spastic paraplegia 39 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012787 MONDO:0015905 False hereditary spastic paraplegia 39 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012788 MONDO:0020573 False coronary heart disease, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012789 MONDO:0021095 False dystonia 16 parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012790 MONDO:0017161 False amyotrophic lateral sclerosis type 10 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012791 MONDO:0002254 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012789 MONDO:0021095 False dystonia 16 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012790 MONDO:0017161 False amyotrophic lateral sclerosis type 10 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012791 MONDO:0002254 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012793 MONDO:0009071 False hypouricemia, renal, 2 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012794 MONDO:0002051 False ANE syndrome integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012794 MONDO:0002051 False ANE syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012798 MONDO:0003847 False deafness, unilateral, with delayed endolymphatic hydrops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012800 MONDO:0011114 False trichoepithelioma, multiple familial, 2 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012809 MONDO:0003847 False histiocytoma, Angiomatoid fibrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012809 MONDO:0005509 False histiocytoma, Angiomatoid fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012809 MONDO:0003847 False histiocytoma, Angiomatoid fibrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012809 MONDO:0005509 False histiocytoma, Angiomatoid fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012814 MONDO:0003847 False diastasis recti and weakness of the linea alba hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012815 MONDO:0020247 False Coats plus syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012815 MONDO:0100137 False Coats plus syndrome telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012817 MONDO:0003847 False Ewing sarcoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012819 MONDO:0005015 False diabetic ketoacidosis diabetes mellitus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012817 MONDO:0003847 False Ewing sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012819 MONDO:0005015 False diabetic ketoacidosis diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012820 MONDO:0015356 False colorectal cancer, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012821 MONDO:0015356 False colorectal cancer, susceptibility to, 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012822 MONDO:0015356 False colorectal cancer, susceptibility to, 6 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25848,7 +25874,7 @@ MONDO:0012843 MONDO:0020573 False epilepsy, childhood absence, susceptibility to MONDO:0012847 MONDO:0017778 False autosomal recessive congenital ichthyosis 6 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012847 MONDO:0019306 False autosomal recessive congenital ichthyosis 6 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012848 MONDO:0800066 False Meckel syndrome, type 6 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012849 MONDO:0009480 False Joubert syndrome 9 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012849 MONDO:0009480 False Joubert syndrome 9 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012850 MONDO:0001343 False hypophosphatemic nephrolithiasis/osteoporosis 1 impaired renal function disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012850 MONDO:0100191 False hypophosphatemic nephrolithiasis/osteoporosis 1 inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012851 MONDO:0001343 False hypophosphatemic nephrolithiasis/osteoporosis 2 impaired renal function disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25856,21 +25882,21 @@ MONDO:0012851 MONDO:0100191 False hypophosphatemic nephrolithiasis/osteoporosis MONDO:0012854 MONDO:0003847 False bilateral microtia-deafness-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012857 MONDO:0019212 False porokeratosis 5, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012858 MONDO:0003689 False primary CD59 deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012859 MONDO:0005046 False autosomal recessive osteopetrosis 7 immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012859 MONDO:0005046 False autosomal recessive osteopetrosis 7 immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012862 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012863 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012865 MONDO:0003847 False Pseudofolliculitis barbae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012868 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal dominant hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012868 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal dominant hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012870 MONDO:0016901 False chromosome 2q31.2 deletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012871 MONDO:0013372 False Jervell and Lange-Nielsen syndrome 2 long QT syndrome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012873 MONDO:0007526 False Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012873 MONDO:0016761 False Ehlers-Danlos syndrome, spondylocheirodysplastic type spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012871 MONDO:0013372 False Jervell and Lange-Nielsen syndrome 2 long QT syndrome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012873 MONDO:0007526 False Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012873 MONDO:0016761 False Ehlers-Danlos syndrome, spondylocheirodysplastic type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012874 MONDO:0019212 False porokeratosis 6, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012877 MONDO:0003847 False major affective disorder 8 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012877 MONDO:0004985 False major affective disorder 8 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012878 MONDO:0016063 False Cowden syndrome 2 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012879 MONDO:0100182 False schizophrenia 14 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012880 MONDO:0018800 False hypogonadotropic hypogonadism 5 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012880 MONDO:0018800 False hypogonadotropic hypogonadism 5 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012881 MONDO:0003847 False major affective disorder 7 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012881 MONDO:0004985 False major affective disorder 7 bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012882 MONDO:0003847 False major affective disorder 9 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25882,9 +25908,9 @@ MONDO:0012892 MONDO:0023603 False bone fragility with contractures, arterial rup MONDO:0012893 MONDO:0020573 False osteoarthritis susceptibility 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012894 MONDO:0020573 False osteoarthritis susceptibility 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012896 MONDO:0100171 False psoriasis 10, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0002243 False congenital factor XI deficiency hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0009332 False congenital factor XI deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012897 MONDO:0020587 False congenital factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0002243 False congenital factor XI deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0012897 MONDO:0009332 False congenital factor XI deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012897 MONDO:0020587 False congenital factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012898 MONDO:0100049 False narcolepsy 4, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012899 MONDO:0005339 False alopecia, androgenetic, 3 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012901 MONDO:0002242 False inherited prekallikrein deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25897,14 +25923,14 @@ MONDO:0012908 MONDO:0015700 False complement component 6 deficiency immunodefici MONDO:0012909 MONDO:0003847 False skeletal defects, genital hypoplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012910 MONDO:0005562 False age-related hearing impairment 1 age-related hearing impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012910 MONDO:0037940 False age-related hearing impairment 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0018379 False pseudohypoparathyroidism type 1C primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012911 MONDO:0018383 False pseudohypoparathyroidism type 1C osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0018379 False pseudohypoparathyroidism type 1C primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012911 MONDO:0018383 False pseudohypoparathyroidism type 1C osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0800466 False pseudohypoparathyroidism type 1C disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012912 MONDO:0800466 False pseudopseudohypoparathyroidism disorder of GNAS inactivation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012913 MONDO:0008681 False Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome WAGR syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012919 MONDO:0010255 False type 1 diabetes mellitus 20 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012920 MONDO:0010255 False type 1 diabetes mellitus 21 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012921 MONDO:0010255 False type 1 diabetes mellitus 22 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012913 MONDO:0008681 False Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome WAGR syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012919 MONDO:0010255 False type 1 diabetes mellitus 20 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012920 MONDO:0010255 False type 1 diabetes mellitus 21 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012921 MONDO:0010255 False type 1 diabetes mellitus 22 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012923 MONDO:0018883 False congenital generalized lipodystrophy type 3 Berardinelli-Seip congenital lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012926 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012931 MONDO:0020573 False focal segmental glomerulosclerosis 4, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25916,25 +25942,25 @@ MONDO:0012942 MONDO:0015356 False lung cancer susceptibility 3 hereditary neopla MONDO:0012943 MONDO:0800393 False retinitis pigmentosa 46 IDH3B-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012944 MONDO:0018050 False chromosome 17P13.3, telomeric, duplication syndrome tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012944 MONDO:0019713 False chromosome 17P13.3, telomeric, duplication syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012948 MONDO:0011119 False chromosome 6pter-p24 deletion syndrome iridogoniodysgenesis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012948 MONDO:0011119 False chromosome 6pter-p24 deletion syndrome iridogoniodysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012951 MONDO:0015356 False colorectal cancer, susceptibility to, 8 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012952 MONDO:0015356 False colorectal cancer, susceptibility to, 9 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012953 MONDO:0015356 False colorectal cancer, susceptibility to, 10 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012954 MONDO:0015356 False colorectal cancer, susceptibility to, 11 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012955 MONDO:0015356 False lung cancer susceptibility 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012959 MONDO:0100171 False psoriasis 11, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012961 MONDO:0010255 False type 1 diabetes mellitus 23 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012961 MONDO:0010255 False type 1 diabetes mellitus 23 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012967 MONDO:0003689 False hemolytic anemia due to adenylate kinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012980 MONDO:0005172 False endocrine-cerebro-osteodysplasia syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012982 MONDO:0019216 False episodic ataxia type 6 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012984 MONDO:0015905 False PHARC syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012982 MONDO:0019216 False episodic ataxia type 6 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012984 MONDO:0015905 False PHARC syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012987 MONDO:0011096 False agammaglobulinemia 6, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012988 MONDO:0018800 False hypogonadotropic hypogonadism 6 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012988 MONDO:0018800 False hypogonadotropic hypogonadism 6 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012990 MONDO:0800099 False Leber congenital amaurosis 13 RDH12-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012992 MONDO:0001684 False pancreatic insufficiency-anemia-hyperostosis syndrome exocrine pancreatic insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012992 MONDO:0009068 False pancreatic insufficiency-anemia-hyperostosis syndrome cytochrome-c oxidase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012992 MONDO:0018230 False pancreatic insufficiency-anemia-hyperostosis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012992 MONDO:0019403 False pancreatic insufficiency-anemia-hyperostosis syndrome congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012992 MONDO:0009068 False pancreatic insufficiency-anemia-hyperostosis syndrome cytochrome-c oxidase deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012992 MONDO:0018230 False pancreatic insufficiency-anemia-hyperostosis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012992 MONDO:0019403 False pancreatic insufficiency-anemia-hyperostosis syndrome congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012994 MONDO:0045014 False dopa-responsive dystonia due to sepiapterin reductase deficiency tetrahydrobiopterin metabolic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012996 MONDO:0045018 False AGAT deficiency creatine biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012997 MONDO:0003847 False cholestasis-pigmentary retinopathy-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25942,16 +25968,14 @@ MONDO:0012998 MONDO:0003847 False faciocardiomelic syndrome hereditary disease U MONDO:0012999 MONDO:0045018 False guanidinoacetate methyltransferase deficiency creatine biosynthetic process disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013002 MONDO:0800398 False cone-rod dystrophy 9 ADAM9-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013003 MONDO:0001165 False isolated congenital hypoglossia/aglossia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013003 MONDO:0017139 False isolated congenital hypoglossia/aglossia oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013003 MONDO:0017139 False isolated congenital hypoglossia/aglossia oromandibular-limb hypogenesis syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013004 MONDO:0003847 False hypotonia, seizures, and precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013009 MONDO:0003847 False Megarbane-Jalkh syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013013 MONDO:0000107 False question mark ears, isolated auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013013 MONDO:0000107 False question mark ears, isolated auriculocondylar syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013014 MONDO:0100510 False spondyloepimetaphyseal dysplasia, aggrecan type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013016 MONDO:0019026 False leukocyte adhesion deficiency 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013016 MONDO:0019026 False leukocyte adhesion deficiency 3 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013017 MONDO:0018631 False hypotrichosis 5 Marie Unna hereditary hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013020 MONDO:0100049 False narcolepsy 5, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013021 MONDO:0005046 False sterile multifocal osteomyelitis with periostitis and pustulosis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013021 MONDO:0023603 False sterile multifocal osteomyelitis with periostitis and pustulosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013024 MONDO:0005149 False chronic thromboembolic pulmonary hypertension pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013032 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013033 MONDO:0100500 False cerebral palsy, spastic quadriplegic, 2 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25965,8 +25989,8 @@ MONDO:0013042 MONDO:0035290 False atypical hemolytic-uremic syndrome with B fact MONDO:0013043 MONDO:0035290 False atypical hemolytic-uremic syndrome with C3 anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013044 MONDO:0035290 False atypical hemolytic-uremic syndrome with thrombomodulin anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013045 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 3 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013046 MONDO:0017688 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013047 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013046 MONDO:0017688 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013047 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013050 MONDO:0003847 False lethal polymalformative syndrome, Boissel type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013051 MONDO:0800064 False autosomal recessive cutis laxa type 2B osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013053 MONDO:0005267 False microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25982,13 +26006,13 @@ MONDO:0013068 MONDO:0037940 False age-related hearing impairment 2 inherited aud MONDO:0013071 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 4, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013072 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 5, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013073 MONDO:0017672 False palmoplantar keratoderma, nonepidermolytic, focal 1 focal palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013074 MONDO:0021440 False encephalocraniocutaneous lipomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013074 MONDO:0023603 False encephalocraniocutaneous lipomatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013074 MONDO:0021440 False encephalocraniocutaneous lipomatosis benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013074 MONDO:0023603 False encephalocraniocutaneous lipomatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013074 MONDO:0100118 False encephalocraniocutaneous lipomatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013076 MONDO:0020573 False attention deficit-hyperactivity disorder, susceptibility to, 7 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013077 MONDO:0003847 False Santos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013078 MONDO:0010255 False type 1 diabetes mellitus 24 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013081 MONDO:0021094 False lymphoproliferative syndrome 1 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013078 MONDO:0010255 False type 1 diabetes mellitus 24 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013081 MONDO:0021094 False lymphoproliferative syndrome 1 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013082 MONDO:0002254 False Hirschsprung disease-ganglioneuroblastoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013082 MONDO:0021189 False Hirschsprung disease-ganglioneuroblastoma syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013083 MONDO:0015356 False neuroblastoma, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25999,7 +26023,7 @@ MONDO:0013087 MONDO:0018956 False bronchiectasis with or without elevated sweat MONDO:0013088 MONDO:0015356 False follicular lymphoma, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013089 MONDO:0100182 False schizophrenia 13 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013091 MONDO:0020693 False glycogen storage disease IXc glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013098 MONDO:0005365 False noise induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013098 MONDO:0005365 False noise induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013098 MONDO:0037940 False noise induced hearing loss inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013099 MONDO:0002320 False combined pituitary hormone deficiencies, genetic form congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013099 MONDO:0005152 False combined pituitary hormone deficiencies, genetic form hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26014,14 +26038,14 @@ MONDO:0013108 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to MONDO:0013108 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 1 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013109 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013109 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 2 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013111 MONDO:0000023 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins infantile liver failure UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013111 MONDO:0019542 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins acute liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013111 MONDO:0000023 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins infantile liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013111 MONDO:0019542 False acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins acute liver failure UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013112 MONDO:0018956 False bronchiectasis with or without elevated sweat chloride 3 idiopathic bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013113 MONDO:0015177 False metaphyseal anadysplasia 2 metaphyseal anadysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013115 MONDO:0100237 False RIN2 syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013115 MONDO:0100237 False RIN2 syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013117 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013118 MONDO:0015327 False Nijmegen breakage syndrome-like disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013118 MONDO:0021190 False Nijmegen breakage syndrome-like disorder DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013118 MONDO:0015327 False Nijmegen breakage syndrome-like disorder developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013118 MONDO:0021190 False Nijmegen breakage syndrome-like disorder DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013121 MONDO:0000365 False glaucoma 3, primary congenital, C primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0000365 False glaucoma 3, primary congenital, D primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0100236 False glaucoma 3, primary congenital, D LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26048,35 +26072,35 @@ MONDO:0013159 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congeni MONDO:0013160 MONDO:0700071 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013161 MONDO:0700068 False autosomal recessive limb-girdle muscular dystrophy type 2O myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013162 MONDO:0700071 False autosomal recessive limb-girdle muscular dystrophy type 2N myopathy caused by variation in POMT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013165 MONDO:0015150 False hereditary spastic paraplegia 45 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013165 MONDO:0015150 False hereditary spastic paraplegia 45 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013172 MONDO:0000904 False polymicrogyria with optic nerve hypoplasia complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013180 MONDO:0010940 False asthma-related traits, susceptibility to, 8 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013180 MONDO:0010940 False asthma-related traits, susceptibility to, 8 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013181 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013183 MONDO:0800402 False congenital stationary night blindness 1C TRPM1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013184 MONDO:0045032 False congenital diarrhea 5 with tufting enteropathy congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013185 MONDO:0015979 False leprosy, susceptibility to, 5 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013187 MONDO:0018029 False factor XIII, A subunit, deficiency of congenital factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013187 MONDO:0021181 False factor XIII, A subunit, deficiency of inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013189 MONDO:0003847 False trichotillomania hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013189 MONDO:0003847 False trichotillomania hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013190 MONDO:0018029 False factor XIII, b subunit, deficiency of congenital factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013190 MONDO:0021181 False factor XIII, b subunit, deficiency of inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013193 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013194 MONDO:0003847 False Pseudopili annulati hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013201 MONDO:0019518 False Waardenburg syndrome type 4B Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013202 MONDO:0019518 False Waardenburg syndrome type 4C Waardenburg-Shah syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013208 MONDO:0021095 False cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013208 MONDO:0021095 False cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013213 MONDO:0020573 False hearing loss, cisplatin-induced, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013214 MONDO:0003847 False bile acid malabsorption, primary, 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013218 MONDO:0700231 False exudative vitreoretinopathy 5 TSPAN12-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013219 MONDO:0017324 False hypophosphatemic rickets, autosomal recessive, 2 autosomal recessive hypophosphatemic rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013219 MONDO:0800096 False hypophosphatemic rickets, autosomal recessive, 2 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013223 MONDO:0800080 False autosomal recessive spondylometaphyseal dysplasia, Megarbane type severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013224 MONDO:0020560 False rhabdoid tumor predisposition syndrome 2 atypical teratoid rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013226 MONDO:0015131 False combined immunodeficiency with faciooculoskeletal anomalies combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013224 MONDO:0020560 False rhabdoid tumor predisposition syndrome 2 atypical teratoid rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013226 MONDO:0015131 False combined immunodeficiency with faciooculoskeletal anomalies combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013226 MONDO:0015160 False combined immunodeficiency with faciooculoskeletal anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013227 MONDO:0002242 False congenital plasminogen activator inhibitor type 1 deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013227 MONDO:0002243 False congenital plasminogen activator inhibitor type 1 deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013227 MONDO:0009332 False congenital plasminogen activator inhibitor type 1 deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013227 MONDO:0002242 False congenital plasminogen activator inhibitor type 1 deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013227 MONDO:0002243 False congenital plasminogen activator inhibitor type 1 deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013227 MONDO:0009332 False congenital plasminogen activator inhibitor type 1 deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013228 MONDO:0016761 False spondylo-megaepiphyseal-metaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013229 MONDO:0023224 False hot water reflex epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013232 MONDO:0016761 False brachydactylous dwarfism, Mseleni type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26086,31 +26110,31 @@ MONDO:0013234 MONDO:0800468 False hypokalemic periodic paralysis, type 2 SCN4A-r MONDO:0013235 MONDO:0015356 False pancreatic cancer, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013236 MONDO:0015356 False pancreatic cancer, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013237 MONDO:0020573 False susceptibility to mononeuropathy of the median nerve, mild inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013243 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2C distal hereditary motor neuropathy type 2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013243 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2C distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013244 MONDO:0019677 False brachydactyly type E2 brachydactyly type E UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013245 MONDO:0003847 False syndromic multisystem autoimmune disease due to ITCH deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013246 MONDO:0020573 False fatty liver disease, nonalcoholic, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013247 MONDO:0007600 False Fanconi renotubular syndrome 2 primary Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013251 MONDO:0003847 False Birbeck granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013254 MONDO:0001149 False microcephaly, seizures, and developmental delay microcephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013254 MONDO:0001149 False microcephaly, seizures, and developmental delay microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013257 MONDO:0015979 False leprosy, susceptibility to, 6 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013259 MONDO:0019152 False Oguchi disease-2 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0003847 False esophagitis, eosinophilic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0005361 False esophagitis, eosinophilic, 2 eosinophilic esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013263 MONDO:0800404 False retinitis pigmentosa 54 PCARE-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013268 MONDO:0002051 False frontonasal dysplasia with alopecia and genital anomaly integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013270 MONDO:0002320 False Rett syndrome, congenital variant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013268 MONDO:0002051 False frontonasal dysplasia with alopecia and genital anomaly integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013270 MONDO:0002320 False Rett syndrome, congenital variant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0017746 False Rett syndrome, congenital variant atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0100040 False Rett syndrome, congenital variant FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0006506 False hemolytic anemia due to glucophosphate isomerase deficiency congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0020585 False hemolytic anemia due to glucophosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013276 MONDO:0003847 False Reynolds syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013276 MONDO:0007179 False Reynolds syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013277 MONDO:0018097 False developmental and epileptic encephalopathy, 5 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013276 MONDO:0007179 False Reynolds syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013277 MONDO:0018097 False developmental and epileptic encephalopathy, 5 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013280 MONDO:0020561 False myxoid liposarcoma myxoid/round cell liposarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013280 MONDO:0023603 False myxoid liposarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013282 MONDO:0002254 False alpha 1-antitrypsin deficiency syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013282 MONDO:0005087 False alpha 1-antitrypsin deficiency respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013280 MONDO:0023603 False myxoid liposarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013282 MONDO:0002254 False alpha 1-antitrypsin deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013282 MONDO:0005087 False alpha 1-antitrypsin deficiency respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013287 MONDO:0011096 False agammaglobulinemia 2, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013288 MONDO:0011096 False agammaglobulinemia 3, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013289 MONDO:0011096 False agammaglobulinemia 4, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26120,11 +26144,11 @@ MONDO:0013293 MONDO:0016764 False isolated microphthalmia 6 isolated anophthalmi MONDO:0013294 MONDO:0100178 False dermatitis, atopic, 8 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013295 MONDO:0100178 False dermatitis, atopic, 9 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013299 MONDO:0016905 False chromosome 6q11-q14 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013301 MONDO:0024575 False aromatase deficiency pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013301 MONDO:0024575 False aromatase deficiency pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013302 MONDO:0019394 False nephronophthisis 11 Senior-Boichis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013303 MONDO:0020573 False autoimmune disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013309 MONDO:0016884 False chromosome 2p12-p11.2 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013310 MONDO:0005039 False congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013310 MONDO:0005039 False congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013314 MONDO:0700241 False retinitis pigmentosa 56 IMPG2-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013316 MONDO:0020242 False occult macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013317 MONDO:0007263 False torsade-de-pointes syndrome with short coupling interval cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26133,12 +26157,12 @@ MONDO:0013319 MONDO:0003847 False chromosome 4Q32.1-q32.2 triplication syndrome MONDO:0013319 MONDO:0016955 False chromosome 4Q32.1-q32.2 triplication syndrome partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013321 MONDO:0003847 False forsythe-wakeling syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013324 MONDO:0003847 False lymphedema-posterior choanal atresia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013325 MONDO:0002254 False COG5-congenital disorder of glycosylation syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013325 MONDO:0002254 False COG5-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013330 MONDO:0003847 False agenesis of the corpus callosum and congenital lymphedema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013331 MONDO:0018175 False factor 5 and Factor VIII, combined deficiency of, 2 combined deficiency of factor V and factor VIII UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013331 MONDO:0021181 False factor 5 and Factor VIII, combined deficiency of, 2 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013332 MONDO:0003847 False brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013333 MONDO:0003847 False odontoid hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013333 MONDO:0003847 False odontoid hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013333 MONDO:0005497 False odontoid hypoplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013335 MONDO:0003847 False tuberculin skin test reactivity, absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013340 MONDO:0020573 False Parkinson disease 5, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26148,18 +26172,18 @@ MONDO:0013355 MONDO:0000577 False congenital dyserythropoietic anemia type 4 con MONDO:0013358 MONDO:0700054 False Seckel syndrome 4 microcephaly 6 with or without short stature UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013361 MONDO:0024307 False congenital prothrombin deficiency prothrombin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013362 MONDO:0003847 False THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013363 MONDO:0007977 False chromosome 2q31.1 duplication syndrome mesomelic dysplasia, Kantaputra type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013363 MONDO:0007977 False chromosome 2q31.1 duplication syndrome mesomelic dysplasia, Kantaputra type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013366 MONDO:0010180 False spondylocostal dysostosis 4, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013368 MONDO:0002263 False mammary-digital-nail syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013368 MONDO:0003847 False mammary-digital-nail syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013374 MONDO:0003847 False supernumerary der(22)t(8;22) syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013377 MONDO:0016764 False isolated microphthalmia 7 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013378 MONDO:0016044 False orofacial cleft 10 cleft lip/palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013382 MONDO:0020127 False progressive demyelinating neuropathy with bilateral striatal necrosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013382 MONDO:0020127 False progressive demyelinating neuropathy with bilateral striatal necrosis hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013383 MONDO:0100179 False Hirschsprung disease, susceptibility to, 3 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013384 MONDO:0100179 False Hirschsprung disease, susceptibility to, 4 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013389 MONDO:0017385 False developmental and epileptic encephalopathy, 12 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013389 MONDO:0018097 False developmental and epileptic encephalopathy, 12 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013389 MONDO:0018097 False developmental and epileptic encephalopathy, 12 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013389 MONDO:0100455 False developmental and epileptic encephalopathy, 12 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013394 MONDO:0003847 False porencephaly-microcephaly-bilateral congenital cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013394 MONDO:0021147 False porencephaly-microcephaly-bilateral congenital cataract syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26180,11 +26204,11 @@ MONDO:0013422 MONDO:0000015 False type I complement component 8 deficiency class MONDO:0013422 MONDO:0015700 False type I complement component 8 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013425 MONDO:0100368 False retinitis pigmentosa 20 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013437 MONDO:0700224 False retinitis pigmentosa 43 PDE6A-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013440 MONDO:0015286 False autosomal recessive limb-girdle muscular dystrophy type 2P congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013440 MONDO:0015286 False autosomal recessive limb-girdle muscular dystrophy type 2P congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013443 MONDO:0800063 False Seckel syndrome 5 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013445 MONDO:0000015 False complement component 9 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013445 MONDO:0015700 False complement component 9 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013450 MONDO:0002320 False congenital stationary night blindness 1D congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013450 MONDO:0002320 False congenital stationary night blindness 1D congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013452 MONDO:0003847 False multisystemic smooth muscle dysfunction syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013452 MONDO:0005385 False multisystemic smooth muscle dysfunction syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013452 MONDO:0021189 False multisystemic smooth muscle dysfunction syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26192,25 +26216,25 @@ MONDO:0013456 MONDO:0001700 False constitutional megaloblastic anemia with sever MONDO:0013458 MONDO:0005149 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013459 MONDO:0800064 False osteogenesis imperfecta type 10 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013460 MONDO:0800064 False osteogenesis imperfecta type 12 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013461 MONDO:0003847 False inosine triphosphatase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013461 MONDO:0003847 False inosine triphosphatase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013462 MONDO:0003847 False fucosyltransferase 6 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013463 MONDO:0000119 False congenital heart defects, multiple types, 6 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013465 MONDO:0800392 False achromatopsia 4 GNAT2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013469 MONDO:0800394 False retinitis pigmentosa 38 MERTK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013473 MONDO:0003847 False Hirschsprung disease, cardiac defects, and autonomic dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013480 MONDO:0018101 False renal hypomagnesemia 6 familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013481 MONDO:0002254 False chromosome 13q14 deletion syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013481 MONDO:0002254 False chromosome 13q14 deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013483 MONDO:0003847 False obesity, hyperphagia, and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013487 MONDO:0003832 False recurrent Neisseria infections due to factor D deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013487 MONDO:0003832 False recurrent Neisseria infections due to factor D deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013488 MONDO:0003847 False lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013493 MONDO:0003847 False acetyl-coa carboxylase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013495 MONDO:0017778 False autosomal recessive congenital ichthyosis 8 lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013496 MONDO:0020573 False IgA nephropathy, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013497 MONDO:0003847 False Okt4 epitope deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013500 MONDO:0015279 False immunodeficiency 51 chronic mucocutaneous candidiasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013501 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013506 MONDO:0001384 False schizophrenia 16 myopia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013500 MONDO:0015279 False immunodeficiency 51 chronic mucocutaneous candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0013501 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013506 MONDO:0001384 False schizophrenia 16 myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013511 MONDO:0003847 False cyanosis, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013514 MONDO:0019575 False hypotrichosis 3 hypotrichosis simplex of the scalp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013515 MONDO:0800064 False osteogenesis imperfecta type 6 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26220,7 +26244,7 @@ MONDO:0013532 MONDO:0003847 False protein Z deficiency hereditary disease UNSUPP MONDO:0013533 MONDO:0001336 False hyperlipidemia due to hepatic triglyceride lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013535 MONDO:0003847 False hydroxyacyl glutathione hydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0002254 False deafness-lymphedema-leukemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013540 MONDO:0019313 False deafness-lymphedema-leukemia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013540 MONDO:0019313 False deafness-lymphedema-leukemia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013540 MONDO:0042982 False deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013543 MONDO:0003847 False trypsinogen deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013546 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26233,30 +26257,30 @@ MONDO:0013556 MONDO:0016501 False Hermansky-Pudlak syndrome 4 Hermansky-Pudlak s MONDO:0013557 MONDO:0016502 False Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013558 MONDO:0016502 False Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome without pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013561 MONDO:0000226 False chondrodysplasia with joint dislocations, gPAPP type mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013561 MONDO:0019052 False chondrodysplasia with joint dislocations, gPAPP type inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013561 MONDO:0019052 False chondrodysplasia with joint dislocations, gPAPP type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013562 MONDO:0015979 False aspergillosis, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013564 MONDO:0003847 False anhaptoglobinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013568 MONDO:0020573 False sick sinus syndrome 3, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013571 MONDO:0100306 False acatalasia disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013575 MONDO:0003847 False plasma fibronectin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013577 MONDO:0019296 False Lipedema subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013578 MONDO:0000508 False DYRK1A-related intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013578 MONDO:0002320 False DYRK1A-related intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013579 MONDO:0000688 False methylmalonate semialdehyde dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013578 MONDO:0000508 False DYRK1A-related intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013578 MONDO:0002320 False DYRK1A-related intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013579 MONDO:0000688 False methylmalonate semialdehyde dehydrogenase deficiency inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013583 MONDO:0003847 False occipital pachygyria and polymicrogyria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013583 MONDO:0005560 False occipital pachygyria and polymicrogyria brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013584 MONDO:0003406 False hereditary sensory neuropathy-deafness-dementia syndrome sleep-wake disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013584 MONDO:0018213 False hereditary sensory neuropathy-deafness-dementia syndrome hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013584 MONDO:0003406 False hereditary sensory neuropathy-deafness-dementia syndrome sleep-wake disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013584 MONDO:0018213 False hereditary sensory neuropathy-deafness-dementia syndrome hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013585 MONDO:0800463 False hydrolethalus syndrome 2 KIF7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013587 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase H-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013587 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase H-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013592 MONDO:0019577 False nonsyndromic congenital nail disorder 9 anonychia-onychodystrophy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013595 MONDO:0003847 False hyperbiliverdinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013595 MONDO:0005154 False hyperbiliverdinemia liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013597 MONDO:0021181 False platelet-type bleeding disorder 14 inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013598 MONDO:0003847 False myostatin-related muscle hypertrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013599 MONDO:0000569 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune disorder of endocrine system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013600 MONDO:0005560 False insomnia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013600 MONDO:0100081 False insomnia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013598 MONDO:0003847 False myostatin-related muscle hypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013599 MONDO:0000569 False autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013600 MONDO:0005560 False insomnia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013600 MONDO:0100081 False insomnia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013601 MONDO:0019052 False gluthathione peroxidase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013601 MONDO:0024626 False gluthathione peroxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0002714 False paragangliomas 5 central nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26264,7 +26288,7 @@ MONDO:0013602 MONDO:0002817 False paragangliomas 5 adrenal gland cancer UNSUPPOR MONDO:0013602 MONDO:0006295 False paragangliomas 5 malignant urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0017366 False paragangliomas 5 hereditary pheochromocytoma-paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013602 MONDO:0021089 False paragangliomas 5 peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013606 MONDO:0015541 False Hermansky-Pudlak syndrome 9 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013606 MONDO:0015541 False Hermansky-Pudlak syndrome 9 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013607 MONDO:0042982 False monocytopenia with susceptibility to infections GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013611 MONDO:0700229 False retinitis pigmentosa 62 MAK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013614 MONDO:0003847 False hypertelorism-preauricular sinus-punctual pits-deafness syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26272,7 +26296,7 @@ MONDO:0013618 MONDO:0003847 False craniofacial anomalies and anterior segment dy MONDO:0013619 MONDO:0019006 False nephrotic syndrome, type 6 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0020344 False congenital myasthenic syndrome 16 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0100121 False congenital myasthenic syndrome 16 SCN4A-related myopathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013626 MONDO:0023603 False psoriasis 14, pustular hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013626 MONDO:0023603 False psoriasis 14, pustular hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0800063 False 3M syndrome 3 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013631 MONDO:0015356 False lung cancer susceptibility 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013633 MONDO:0800174 False encephalopathy, acute, infection-induced, susceptibility to, 4 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26282,49 +26306,49 @@ MONDO:0013639 MONDO:0100049 False narcolepsy 6, susceptibility to narcolepsy, su MONDO:0013640 MONDO:0002311 False familial retinal arterial macroaneurysm retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013640 MONDO:0003847 False familial retinal arterial macroaneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013640 MONDO:0005267 False familial retinal arterial macroaneurysm heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013643 MONDO:0000608 False hyperuricemic nephropathy, familial juvenile type 3 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013643 MONDO:0000608 False hyperuricemic nephropathy, familial juvenile type 3 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013649 MONDO:0018914 False hypotrichosis 9 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013650 MONDO:0018914 False hypotrichosis 10 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013652 MONDO:0016158 False narcolepsy 7 narcolepsy-cataplexy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013653 MONDO:0020573 False Parkinson disease 18, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013655 MONDO:0100172 False intellectual disability, autosomal dominant 8 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013656 MONDO:0100172 False intellectual disability, autosomal dominant 9 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013655 MONDO:0100172 False intellectual disability, autosomal dominant 8 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013656 MONDO:0100172 False intellectual disability, autosomal dominant 9 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013656 MONDO:0700055 False intellectual disability, autosomal dominant 9 KIF1A related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013659 MONDO:0002254 False microcephaly-capillary malformation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013659 MONDO:0003847 False microcephaly-capillary malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013660 MONDO:0003847 False arthrogryposis, Perthes disease, and upward gaze palsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013661 MONDO:0002012 False combined malonic and methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013661 MONDO:0002012 False combined malonic and methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013663 MONDO:0003847 False platelet-activating factor acetylhydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013665 MONDO:0020573 False epilepsy, juvenile myoclonic, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013668 MONDO:0003847 False tetrasomy 18p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013670 MONDO:0001384 False myopia, high, with cataract and vitreoretinal degeneration myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013670 MONDO:0001384 False myopia, high, with cataract and vitreoretinal degeneration myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013671 MONDO:0016785 False hydatidiform mole, recurrent, 2 complete hydatidiform mole UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013671 MONDO:0018944 False hydatidiform mole, recurrent, 2 gestational trophoblastic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013672 MONDO:0016913 False chromosome 15q25 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013673 MONDO:0005151 False Wolfram-like syndrome endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013673 MONDO:0005151 False Wolfram-like syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013677 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 7, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013678 MONDO:0002254 False EDICT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013678 MONDO:0003847 False EDICT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013680 MONDO:0003847 False cognitive impairment with or without cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013681 MONDO:0019233 False alpha-methylacyl-CoA racemase deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013685 MONDO:0015356 False pancreatic cancer, susceptibility to, 4 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0006499 False linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013688 MONDO:0011500 False linear and whorled nevoid hypermelanosis Becker nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0006499 False linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013688 MONDO:0011500 False linear and whorled nevoid hypermelanosis Becker nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013690 MONDO:0016377 False Pitt-Hopkins-like syndrome 2 Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013696 MONDO:0003847 False chromosome 2p16.3 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013696 MONDO:0005090 False chromosome 2p16.3 deletion syndrome schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013696 MONDO:0005090 False chromosome 2p16.3 deletion syndrome schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013696 MONDO:0016884 False chromosome 2p16.3 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013700 MONDO:0002356 False pancreatic triacylglycerol lipase deficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013705 MONDO:0019502 False intellectual disability, autosomal recessive 19 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013700 MONDO:0002356 False pancreatic triacylglycerol lipase deficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013705 MONDO:0019502 False intellectual disability, autosomal recessive 19 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013713 MONDO:0015979 False dengue virus, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013715 MONDO:0017593 False amyotrophic lateral sclerosis type 16 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013720 MONDO:0000015 False complement component 4b deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013720 MONDO:0015699 False complement component 4b deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013721 MONDO:0000015 False complement component 4a deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013721 MONDO:0015699 False complement component 4a deficiency immunodeficiency due to a classical component pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013722 MONDO:0002254 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013722 MONDO:0005039 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism reproductive system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013722 MONDO:0005151 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013722 MONDO:0002254 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0005039 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0005151 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013723 MONDO:0000108 False bacteremia, susceptibility to, 1 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013724 MONDO:0000108 False bacteremia, susceptibility to, 2 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013726 MONDO:0100198 False encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26333,25 +26357,25 @@ MONDO:0013728 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, MONDO:0013729 MONDO:0000144 False pregnancy loss, recurrent, susceptibility to, 3 pregnancy loss, recurrent, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013730 MONDO:0700222 False graft versus host disease disease related to hematopoietic stem cell transplant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013732 MONDO:0003847 False glucocorticoid therapy, response to hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013743 MONDO:0007915 False autosomal systemic lupus erythematosus type 16 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013743 MONDO:0007915 False autosomal systemic lupus erythematosus type 16 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013743 MONDO:0023603 False autosomal systemic lupus erythematosus type 16 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013744 MONDO:0020374 False cataract 37 cerulean cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013745 MONDO:0009480 False Joubert syndrome 14 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013745 MONDO:0009480 False Joubert syndrome 14 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013745 MONDO:0016364 False Joubert syndrome 14 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013746 MONDO:0100009 False ventricular septal defect 1 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013747 MONDO:0100009 False atrioventricular septal defect 4 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013757 MONDO:0019995 False congenital nongoitrous hypothryoidism 6 peripheral resistance to thyroid hormones UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013760 MONDO:0015905 False congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013760 MONDO:0015905 False congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013763 MONDO:0016364 False Joubert syndrome 15 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013764 MONDO:0009480 False Joubert syndrome 16 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013764 MONDO:0009480 False Joubert syndrome 16 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013765 MONDO:0020573 False coronary heart disease, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013771 MONDO:0003847 False transient infantile hypertriglyceridemia and hepatosteatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013771 MONDO:0005154 False transient infantile hypertriglyceridemia and hepatosteatosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013772 MONDO:0003847 False Huppke-Brendel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013775 MONDO:0002242 False thrombomodulin-related bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013775 MONDO:0002243 False thrombomodulin-related bleeding disorder hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013779 MONDO:0021094 False Wiskott-Aldrich syndrome 2 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013784 MONDO:0100062 False neonatal-onset encephalopathy with rigidity and seizures developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013775 MONDO:0002243 False thrombomodulin-related bleeding disorder hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013779 MONDO:0021094 False Wiskott-Aldrich syndrome 2 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013784 MONDO:0100062 False neonatal-onset encephalopathy with rigidity and seizures developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013787 MONDO:0003847 False psychomotor retardation, epilepsy, and craniofacial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013791 MONDO:0019144 False thrombophilia due to protein S deficiency, autosomal recessive hereditary thrombophilia due to congenital protein S deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013792 MONDO:0011057 False intracerebral hemorrhage cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26359,14 +26383,14 @@ MONDO:0013793 MONDO:0003847 False encephalomyopathy, mitochondrial, due to volta MONDO:0013798 MONDO:0016914 False chromosome 16q22 deletion syndrome partial deletion of the long arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013801 MONDO:0018614 False developmental and epileptic encephalopathy, 13 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013801 MONDO:0100455 False developmental and epileptic encephalopathy, 13 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013802 MONDO:0004884 False infantile cerebellar-retinal degeneration eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013802 MONDO:0004884 False infantile cerebellar-retinal degeneration eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013803 MONDO:0006025 False leukoencephalopathy with calcifications and cysts autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013805 MONDO:0100172 False intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013805 MONDO:0100172 False intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013806 MONDO:0100118 False familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013807 MONDO:0800396 False congenital stationary night blindness 1E GPR179-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0002531 False Maffucci syndrome skin neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0023603 False Maffucci syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013808 MONDO:0024499 False Maffucci syndrome vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0002531 False Maffucci syndrome skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013808 MONDO:0023603 False Maffucci syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013808 MONDO:0024499 False Maffucci syndrome vascular bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0100118 False Maffucci syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013814 MONDO:0020573 False podoconiosis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013819 MONDO:0700120 False intellectual disability, autosomal dominant 14 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26374,7 +26398,7 @@ MONDO:0013820 MONDO:0700120 False intellectual disability, autosomal dominant 15 MONDO:0013821 MONDO:0700120 False intellectual disability, autosomal dominant 16 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013825 MONDO:0021189 False congenital diarrhea 6 intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013835 MONDO:0100530 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 myopathy caused by variation in CRPPA UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013836 MONDO:0019006 False familial steroid-resistant nephrotic syndrome with sensorineural deafness familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013836 MONDO:0019006 False familial steroid-resistant nephrotic syndrome with sensorineural deafness familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013843 MONDO:0003847 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013843 MONDO:0021189 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013843 MONDO:0054868 False intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency meconium ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26382,22 +26406,22 @@ MONDO:0013846 MONDO:0020573 False peripartum cardiomyopathy, susceptibility to i MONDO:0013855 MONDO:0015979 False influenza, severe, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013856 MONDO:0003847 False hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013857 MONDO:0003847 False alar cleft, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013859 MONDO:0011060 False cataract 38 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013859 MONDO:0011060 False cataract 38 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013860 MONDO:0005334 False idiopathic membranous glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013860 MONDO:0005376 False idiopathic membranous glomerulonephritis membranous glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013860 MONDO:0005376 False idiopathic membranous glomerulonephritis membranous glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013860 MONDO:0700007 False idiopathic membranous glomerulonephritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013864 MONDO:0019713 False Cornelia de Lange syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013866 MONDO:0019260 False neuronal ceroid lipofuscinosis 11 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013866 MONDO:0019260 False neuronal ceroid lipofuscinosis 11 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013868 MONDO:0019212 False porokeratosis 7, multiple types disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013869 MONDO:0004736 False adenine phosphoribosyltransferase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013870 MONDO:0016761 False TMEM165-congenital disorder of glycosylation spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013872 MONDO:0023122 False prostate cancer, hereditary, 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013869 MONDO:0004736 False adenine phosphoribosyltransferase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013870 MONDO:0016761 False TMEM165-congenital disorder of glycosylation spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013872 MONDO:0023122 False prostate cancer, hereditary, 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013873 MONDO:0800063 False IMAGe syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013876 MONDO:0015356 False basal cell carcinoma, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013876 MONDO:0100047 False basal cell carcinoma, susceptibility to, 7 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013880 MONDO:0003847 False facial paresis, hereditary congenital, 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013880 MONDO:0017627 False facial paresis, hereditary congenital, 3 congenital hereditary facial paralysis-variable hearing loss syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013884 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5B neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013884 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5B neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013885 MONDO:0015160 False Malan overgrowth syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013889 MONDO:0800064 False short stature-optic atrophy-Pelger-HuC+t anomaly syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013892 MONDO:0005334 False C3 glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26409,17 +26433,17 @@ MONDO:0013899 MONDO:0100236 False Weill-Marchesani syndrome 3 LTBP2-related ocul MONDO:0013900 MONDO:0700002 False alternating hemiplegia of childhood 2 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013904 MONDO:0700075 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 congenital muscular dystrophy caused by variation in POMGNT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013906 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013907 MONDO:0018764 False bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013907 MONDO:0018764 False bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013908 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013909 MONDO:0015979 False human herpesvirus 8, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013910 MONDO:0018800 False hypogonadotropic hypogonadism 8 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013911 MONDO:0018800 False hypogonadotropic hypogonadism 9 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013913 MONDO:0018800 False hypogonadotropic hypogonadism 11 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013917 MONDO:0017842 False nephronophthisis 15 Senior-Loken syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013910 MONDO:0018800 False hypogonadotropic hypogonadism 8 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013911 MONDO:0018800 False hypogonadotropic hypogonadism 9 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013913 MONDO:0018800 False hypogonadotropic hypogonadism 11 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013917 MONDO:0017842 False nephronophthisis 15 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0013919 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 12 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013920 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 3 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013921 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 4 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013926 MONDO:0018800 False hypogonadotropic hypogonadism 14 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013926 MONDO:0018800 False hypogonadotropic hypogonadism 14 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013927 MONDO:0100266 False peroxisome biogenesis disorder 3A (Zellweger) peroxisome biogenesis disorder due to PEX12 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013930 MONDO:0100263 False peroxisome biogenesis disorder 4A (Zellweger) peroxisome biogenesis disorder due to PEX6 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013931 MONDO:0100263 False peroxisome biogenesis disorder 4B peroxisome biogenesis disorder due to PEX6 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26435,7 +26459,7 @@ MONDO:0013942 MONDO:0100269 False peroxisome biogenesis disorder 8A (Zellweger) MONDO:0013943 MONDO:0100269 False peroxisome biogenesis disorder 8B peroxisome biogenesis disorder due to PEX16 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013944 MONDO:0023603 False autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013945 MONDO:0019609 False peroxisome biogenesis disorder 9B Zellweger spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013946 MONDO:0018800 False hypogonadotropic hypogonadism 15 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013946 MONDO:0018800 False hypogonadotropic hypogonadism 15 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013948 MONDO:0100261 False peroxisome biogenesis disorder 10A (Zellweger) peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013949 MONDO:0100267 False peroxisome biogenesis disorder 11A (Zellweger) peroxisome biogenesis disorder due to PEX13 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013950 MONDO:0100267 False peroxisome biogenesis disorder 11B peroxisome biogenesis disorder due to PEX13 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26443,7 +26467,7 @@ MONDO:0013951 MONDO:0100270 False peroxisome biogenesis disorder 12A (Zellweger) MONDO:0013952 MONDO:0100268 False peroxisome biogenesis disorder 13A (Zellweger) peroxisome biogenesis disorder due to PEX14 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013960 MONDO:0003847 False sinoatrial node dysfunction and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013960 MONDO:0007263 False sinoatrial node dysfunction and deafness cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013961 MONDO:0018800 False hypogonadotropic hypogonadism 16 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013961 MONDO:0018800 False hypogonadotropic hypogonadism 16 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013967 MONDO:0100279 False peroxisome biogenesis disorder 14B peroxisome biogenesis disorder due to PEX11B defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013980 MONDO:0019332 False palmoplantar keratoderma, punctate type ib punctate palmoplantar keratoderma type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013981 MONDO:0003847 False myoclonus, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26454,65 +26478,65 @@ MONDO:0013988 MONDO:0000119 False congenital heart defects, multiple types, 3 co MONDO:0013988 MONDO:0003847 False congenital heart defects, multiple types, 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013994 MONDO:0016364 False Joubert syndrome 20 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013995 MONDO:0017290 False cholestasis, intrahepatic, of pregnancy, 3 familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013996 MONDO:0009203 False focal facial dermal dysplasia type II focal facial dermal dysplasia type III UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013999 MONDO:0020249 False retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013996 MONDO:0009203 False focal facial dermal dysplasia type II focal facial dermal dysplasia type III UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013999 MONDO:0020249 False retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0000119 False congenital heart defects, multiple types, 2 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0003847 False congenital heart defects, multiple types, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014000 MONDO:0019512 False congenital heart defects, multiple types, 2 congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014003 MONDO:0018097 False developmental and epileptic encephalopathy, 15 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014003 MONDO:0018097 False developmental and epileptic encephalopathy, 15 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014004 MONDO:0700007 False basal ganglia calcification, idiopathic, 4 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014005 MONDO:0005334 False immunoglobulin-mediated membranoproliferative glomerulonephritis hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014006 MONDO:0000508 False Schuurs-Hoeijmakers syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014006 MONDO:0002320 False Schuurs-Hoeijmakers syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014006 MONDO:0000508 False Schuurs-Hoeijmakers syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014006 MONDO:0002320 False Schuurs-Hoeijmakers syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014008 MONDO:0003847 False phosphohydroxylysinuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014009 MONDO:0019306 False autosomal recessive congenital ichthyosis 7 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014010 MONDO:0019306 False autosomal recessive congenital ichthyosis 9 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014011 MONDO:0019306 False autosomal recessive congenital ichthyosis 10 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014013 MONDO:0004573 False maternal riboflavin deficiency ariboflavinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014022 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014025 MONDO:0019079 False lower motor neuron syndrome with late-adult onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014025 MONDO:0019079 False lower motor neuron syndrome with late-adult onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014027 MONDO:0018914 False hypotrichosis 11 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014029 MONDO:0800064 False osteogenesis imperfecta type 14 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0002254 False microcephalic primordial dwarfism, Alazami type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0800063 False microcephalic primordial dwarfism, Alazami type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014034 MONDO:0000508 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014034 MONDO:0002320 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014035 MONDO:0000508 False severe intellectual disability-progressive spastic diplegia syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014035 MONDO:0002320 False severe intellectual disability-progressive spastic diplegia syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014035 MONDO:0100172 False severe intellectual disability-progressive spastic diplegia syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014034 MONDO:0000508 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014034 MONDO:0002320 False severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014035 MONDO:0000508 False severe intellectual disability-progressive spastic diplegia syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014035 MONDO:0002320 False severe intellectual disability-progressive spastic diplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014035 MONDO:0100172 False severe intellectual disability-progressive spastic diplegia syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014038 MONDO:0015356 False colorectal cancer, susceptibility to, 12 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014043 MONDO:0018230 False microcephalic primordial dwarfism due to ZNF335 deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014043 MONDO:0018230 False microcephalic primordial dwarfism due to ZNF335 deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014044 MONDO:0015160 False dysmorphism-conductive hearing loss-heart defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014050 MONDO:0016764 False isolated microphthalmia 8 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014052 MONDO:0020344 False congenital myasthenic syndrome 8 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014056 MONDO:0100242 False melanoma, cutaneous malignant, susceptibility to, 9 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014056 MONDO:0100242 False melanoma, cutaneous malignant, susceptibility to, 9 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014058 MONDO:0003847 False facial dysmorphism-immunodeficiency-livedo-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014061 MONDO:0016761 False Steel syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014062 MONDO:0018158 False mitochondrial DNA deletion syndrome with progressive myopathy mitochondrial DNA depletion syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014062 MONDO:0018158 False mitochondrial DNA deletion syndrome with progressive myopathy mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014071 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014075 MONDO:0011060 False cataract 39 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014075 MONDO:0011060 False cataract 39 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014076 MONDO:0800467 False dyskeratosis congenita, autosomal recessive 5 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014078 MONDO:0015372 False platelet-type bleeding disorder 15 autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014083 MONDO:0011096 False agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014086 MONDO:0800064 False osteogenesis imperfecta type 15 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014090 MONDO:0019673 False polydactyly, postaxial, type A6 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014091 MONDO:0020727 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 combined oxidative phosphorylation deficiency 22 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014091 MONDO:0020727 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4 combined oxidative phosphorylation deficiency 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014092 MONDO:0100182 False schizophrenia 18 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014094 MONDO:0000577 False severe congenital hypochromic anemia with ringed sideroblasts congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014096 MONDO:0015159 False microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014097 MONDO:0021147 False congenital short bowel syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014097 MONDO:0024635 False congenital short bowel syndrome small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014099 MONDO:0019006 False nephrotic syndrome, type 8 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014102 MONDO:0018800 False hypogonadotropic hypogonadism 17 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014103 MONDO:0018800 False hypogonadotropic hypogonadism 18 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014105 MONDO:0018800 False hypogonadotropic hypogonadism 19 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014106 MONDO:0018800 False hypogonadotropic hypogonadism 20 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014107 MONDO:0018800 False hypogonadotropic hypogonadism 21 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014110 MONDO:0011060 False cataract 15 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014111 MONDO:0011060 False cataract 19 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014118 MONDO:0028226 False congenital neutropenia-myelofibrosis-nephromegaly syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014119 MONDO:0002254 False intellectual disability-strabismus syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014102 MONDO:0018800 False hypogonadotropic hypogonadism 17 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014103 MONDO:0018800 False hypogonadotropic hypogonadism 18 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014105 MONDO:0018800 False hypogonadotropic hypogonadism 19 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014106 MONDO:0018800 False hypogonadotropic hypogonadism 20 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014107 MONDO:0018800 False hypogonadotropic hypogonadism 21 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014110 MONDO:0011060 False cataract 15 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014111 MONDO:0011060 False cataract 19 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014118 MONDO:0028226 False congenital neutropenia-myelofibrosis-nephromegaly syndrome autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014119 MONDO:0002254 False intellectual disability-strabismus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014119 MONDO:0024458 False intellectual disability-strabismus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014124 MONDO:0019713 False Adams-Oliver syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014128 MONDO:0015338 False TCF12-related craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26521,19 +26545,19 @@ MONDO:0014131 MONDO:0006025 False hypohidrosis-enamel hypoplasia-palmoplantar ke MONDO:0014133 MONDO:0017385 False developmental and epileptic encephalopathy, 16 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014133 MONDO:0100455 False developmental and epileptic encephalopathy, 16 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014138 MONDO:0015735 False nemaline myopathy 8 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014139 MONDO:0007526 False Ehlers-Danlos syndrome, spondylodysplastic type, 2 Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014139 MONDO:0007526 False Ehlers-Danlos syndrome, spondylodysplastic type, 2 Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014140 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014140 MONDO:0700084 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 myopathy caused by variation in GMPPB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014141 MONDO:0700084 False muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 myopathy caused by variation in GMPPB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014142 MONDO:0700084 False autosomal recessive limb-girdle muscular dystrophy type 2T myopathy caused by variation in GMPPB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014144 MONDO:0018243 False autosomal recessive limb-girdle muscular dystrophy type R18 intellectual disability-hyperkinetic movement-truncal ataxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014147 MONDO:0019260 False neuronal ceroid lipofuscinosis 13 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014144 MONDO:0018243 False autosomal recessive limb-girdle muscular dystrophy type R18 intellectual disability-hyperkinetic movement-truncal ataxia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014147 MONDO:0019260 False neuronal ceroid lipofuscinosis 13 adult neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0002254 False estrogen resistance syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0003847 False estrogen resistance syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005039 False estrogen resistance syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005151 False estrogen resistance syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014150 MONDO:0016025 False developmental and epileptic encephalopathy 94 myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014150 MONDO:0016532 False developmental and epileptic encephalopathy 94 Lennox-Gastaut syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014150 MONDO:0016532 False developmental and epileptic encephalopathy 94 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014151 MONDO:0020573 False pulmonary hypertension, neonatal, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014153 MONDO:0100448 False cone-rod dystrophy 18 RAB28-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014157 MONDO:0003847 False mandibular hypoplasia-deafness-progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26541,29 +26565,29 @@ MONDO:0014165 MONDO:0005172 False multiple congenital anomalies-hypotonia-seizur MONDO:0014172 MONDO:0018394 False spermatogenic failure 12 male infertility with teratozoospermia due to single gene mutation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014176 MONDO:0002320 False hypotonia, infantile, with psychomotor retardation and characteristic facies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014189 MONDO:0100174 False age related macular degeneration 13 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014195 MONDO:0019118 False microcornea-myopic chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014195 MONDO:0019118 False microcornea-myopic chorioretinal atrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014196 MONDO:0002254 False Hartsfield-Bixler-Demyer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014196 MONDO:0018230 False Hartsfield-Bixler-Demyer syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014201 MONDO:0002320 False developmental and epileptic encephalopathy, 18 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014196 MONDO:0018230 False Hartsfield-Bixler-Demyer syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014201 MONDO:0002320 False developmental and epileptic encephalopathy, 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014201 MONDO:0015159 False developmental and epileptic encephalopathy, 18 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014201 MONDO:0020071 False developmental and epileptic encephalopathy, 18 infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014204 MONDO:0700007 False basal ganglia calcification, idiopathic, 5 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014206 MONDO:0012580 False severe early-onset pulmonary alveolar proteinosis due to MARS deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014210 MONDO:0000508 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014213 MONDO:0000508 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014213 MONDO:0002320 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014206 MONDO:0012580 False severe early-onset pulmonary alveolar proteinosis due to MARS deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014210 MONDO:0000508 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014213 MONDO:0000508 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014213 MONDO:0002320 False intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014218 MONDO:0002254 False severe dermatitis-multiple allergies-metabolic wasting syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014218 MONDO:0003847 False severe dermatitis-multiple allergies-metabolic wasting syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014219 MONDO:0002254 False alacrima, achalasia, and intellectual disability syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014220 MONDO:0005336 False myopathy due to myoadenylate deaminase deficiency myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014219 MONDO:0002254 False alacrima, achalasia, and intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014220 MONDO:0005336 False myopathy due to myoadenylate deaminase deficiency myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014220 MONDO:0700223 False myopathy due to myoadenylate deaminase deficiency hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0003689 False triosephosphate isomerase deficiency familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014221 MONDO:0020585 False triosephosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014221 MONDO:0003689 False triosephosphate isomerase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014221 MONDO:0020585 False triosephosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014222 MONDO:0018338 False immunodeficiency 14 activated PI3K-delta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014224 MONDO:0100500 False developmental delay with autism spectrum disorder and gait instability Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014226 MONDO:0700007 False idiopathic CD4 lymphocytopenia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014227 MONDO:0000426 False hypopigmentation-punctate palmoplantar keratoderma syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014231 MONDO:0000828 False juvenile onset Parkinson disease 19A juvenile-onset Parkinson disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014231 MONDO:0000828 False juvenile onset Parkinson disease 19A juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014231 MONDO:0018321 False juvenile onset Parkinson disease 19A atypical juvenile parkinsonism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014232 MONDO:0020573 False craniosynostosis 5, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014235 MONDO:0016972 False chromosome 22q13 duplication syndrome partial duplication of the long arm of chromosome 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26571,8 +26595,8 @@ MONDO:0014236 MONDO:0011142 False Ehlers-Danlos syndrome, musculocontractural ty MONDO:0014239 MONDO:0003847 False testicular anomalies with or without congenital heart disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014239 MONDO:0016674 False testicular anomalies with or without congenital heart disease 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014241 MONDO:0015356 False leukemia, acute lymphoblastic, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014243 MONDO:0008300 False Schaaf-Yang syndrome Prader-Willi syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014247 MONDO:0002254 False familial episodic pain syndrome with predominantly lower limb involvement syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014243 MONDO:0008300 False Schaaf-Yang syndrome Prader-Willi syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014247 MONDO:0002254 False familial episodic pain syndrome with predominantly lower limb involvement syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014249 MONDO:0000620 False multiple fibroadenoma of the breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014249 MONDO:0003847 False multiple fibroadenoma of the breast hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014250 MONDO:0003847 False familial hyperprolactinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26581,7 +26605,7 @@ MONDO:0014251 MONDO:0015979 False melioidosis, susceptibility to hereditary pred MONDO:0014255 MONDO:0003847 False complement factor b deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014257 MONDO:0019006 False nephrotic syndrome, type 9 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014258 MONDO:0002254 False congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014259 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2D distal hereditary motor neuropathy type 2 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014259 MONDO:0015352 False neuronopathy, distal hereditary motor, type 2D distal hereditary motor neuropathy type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014262 MONDO:0005172 False Rienhoff syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014263 MONDO:0003847 False 8q24.3 microdeletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014263 MONDO:0005267 False 8q24.3 microdeletion syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26594,8 +26618,8 @@ MONDO:0014278 MONDO:0015703 False immunodeficiency 18 T-B+ severe combined immun MONDO:0014280 MONDO:0015703 False immunodeficiency 19 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014281 MONDO:0015356 False cholangiocarcinoma, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014288 MONDO:0018342 False Joubert syndrome 21 Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014298 MONDO:0016904 False chromosome 5q12 deletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014300 MONDO:0005395 False proximal myopathy with extrapyramidal signs movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014298 MONDO:0016904 False chromosome 5q12 deletion syndrome partial deletion of the long arm of chromosome 5 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014300 MONDO:0005395 False proximal myopathy with extrapyramidal signs movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014300 MONDO:0700223 False proximal myopathy with extrapyramidal signs hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014301 MONDO:0008371 False dowling-degos disease 3 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014306 MONDO:0002254 False vasculitis due to ADA2 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26606,7 +26630,7 @@ MONDO:0014310 MONDO:0100118 False hereditary sclerosing poikiloderma with tendon MONDO:0014314 MONDO:0003847 False sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014316 MONDO:0015547 False Alzheimer disease 19 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014316 MONDO:0024237 False Alzheimer disease 19 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014320 MONDO:0000508 False Bosch-Boonstra-Schaaf optic atrophy syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014320 MONDO:0000508 False Bosch-Boonstra-Schaaf optic atrophy syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014326 MONDO:0015735 False nemaline myopathy 9 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015736 False nemaline myopathy 9 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014326 MONDO:0015737 False nemaline myopathy 9 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26617,86 +26641,86 @@ MONDO:0014332 MONDO:0800153 False hyperammonemic encephalopathy due to carbonic MONDO:0014333 MONDO:0003847 False polymicrogyria, bilateral perisylvian, autosomal recessive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014333 MONDO:0020340 False polymicrogyria, bilateral perisylvian, autosomal recessive bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0002254 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014335 MONDO:0024237 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014335 MONDO:0024237 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014342 MONDO:0021124 False female infertility due to zona pellucida defect female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0000119 False congenital heart defects, multiple types, 4 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014344 MONDO:0020290 False congenital heart defects, multiple types, 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014344 MONDO:0020290 False congenital heart defects, multiple types, 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014345 MONDO:0700232 False retinitis pigmentosa 69 KIZ-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014347 MONDO:0800063 False short stature with microcephaly and distinctive facies primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014348 MONDO:0019502 False intellectual disability, autosomal recessive 42 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014348 MONDO:0019502 False intellectual disability, autosomal recessive 42 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014350 MONDO:0800063 False Seckel syndrome 8 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014355 MONDO:0011581 False cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis arrhythmogenic cardiomyopathy with wooly hair and keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014358 MONDO:0000508 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014358 MONDO:0100172 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014355 MONDO:0011581 False cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis arrhythmogenic cardiomyopathy with wooly hair and keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014358 MONDO:0000508 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014358 MONDO:0100172 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014360 MONDO:0018614 False developmental and epileptic encephalopathy, 21 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014360 MONDO:0100455 False developmental and epileptic encephalopathy, 21 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014361 MONDO:0000508 False autism spectrum disorder due to AUTS2 deficiency syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014361 MONDO:0002320 False autism spectrum disorder due to AUTS2 deficiency congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014361 MONDO:0000508 False autism spectrum disorder due to AUTS2 deficiency syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014361 MONDO:0002320 False autism spectrum disorder due to AUTS2 deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014362 MONDO:0003847 False chromosome 16 inversion, 0.45-Mb hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0043678 False chromosome 16 inversion, 0.45-Mb chromosome inversion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014362 MONDO:0700023 False chromosome 16 inversion, 0.45-Mb chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014371 MONDO:0002320 False developmental and epileptic encephalopathy, 23 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014371 MONDO:0002320 False developmental and epileptic encephalopathy, 23 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014373 MONDO:0019006 False nephrotic syndrome, type 10 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014375 MONDO:0005020 False congenital diarrhea 7 with exudative enteropathy intestinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014375 MONDO:0005020 False congenital diarrhea 7 with exudative enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014377 MONDO:0018614 False developmental and epileptic encephalopathy, 24 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014377 MONDO:0100455 False developmental and epileptic encephalopathy, 24 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014379 MONDO:0000508 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014379 MONDO:0002320 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014379 MONDO:0100172 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014382 MONDO:0018230 False Tatton-Brown-Rahman overgrowth syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014379 MONDO:0000508 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014379 MONDO:0002320 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014379 MONDO:0100172 False ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014382 MONDO:0018230 False Tatton-Brown-Rahman overgrowth syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014384 MONDO:0018914 False hypotrichosis 12 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014385 MONDO:0015048 False amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014387 MONDO:0800448 False leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014387 MONDO:0800448 False leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014388 MONDO:0021147 False familial median cleft of the upper and lower lips disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014390 MONDO:0008686 False hypotrichosis 13 isolated familial wooly hair disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014390 MONDO:0008686 False hypotrichosis 13 isolated familial wooly hair disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014392 MONDO:0018614 False developmental and epileptic encephalopathy, 25 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014392 MONDO:0100455 False developmental and epileptic encephalopathy, 25 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014395 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014395 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014399 MONDO:0021190 False ataxia-telangiectasia-like disorder 2 DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014401 MONDO:0002254 False tall stature-scoliosis-macrodactyly of the great toes syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014401 MONDO:0002254 False tall stature-scoliosis-macrodactyly of the great toes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014402 MONDO:0100198 False severe neurodegenerative syndrome with lipodystrophy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014404 MONDO:0003847 False Webb-Dattani syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014405 MONDO:0005385 False STING-associated vasculopathy with onset in infancy vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014405 MONDO:0005385 False STING-associated vasculopathy with onset in infancy vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014405 MONDO:0021166 False STING-associated vasculopathy with onset in infancy inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014405 MONDO:0023603 False STING-associated vasculopathy with onset in infancy hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014412 MONDO:0015905 False hyperlipoproteinemia, type 1D syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014412 MONDO:0015905 False hyperlipoproteinemia, type 1D syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014414 MONDO:0002334 False STAT3-related early-onset multisystem autoimmune disease hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014415 MONDO:0003847 False kallikrein, decreased urinary activity of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014416 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 2 hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014416 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014419 MONDO:0003847 False ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014420 MONDO:0003847 False short stature due to primary acid-labile subunit deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014421 MONDO:0002525 False glucocorticoid resistance inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014431 MONDO:0000816 False LIPE-related familial partial lipodystrophy abdominal obesity-metabolic syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014421 MONDO:0002525 False glucocorticoid resistance inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014431 MONDO:0000816 False LIPE-related familial partial lipodystrophy abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014437 MONDO:0700236 False Bardet-Biedl syndrome 9 BBS9-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014438 MONDO:0700237 False Bardet-Biedl syndrome 10 BBS10-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014439 MONDO:0002320 False Bardet-Biedl syndrome 11 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014439 MONDO:0002320 False Bardet-Biedl syndrome 11 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014439 MONDO:0016153 False Bardet-Biedl syndrome 11 qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014442 MONDO:0100451 False Bardet-Biedl syndrome 14 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014448 MONDO:0003847 False hyperthyroxinemia, familial dysalbuminemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014448 MONDO:0004425 False hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014448 MONDO:0003847 False hyperthyroxinemia, familial dysalbuminemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014448 MONDO:0004425 False hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0005333 False hyperthyroxinemia, familial dysalbuminemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014449 MONDO:0003847 False congenital analbuminemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014449 MONDO:0009332 False congenital analbuminemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014449 MONDO:0003847 False congenital analbuminemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014449 MONDO:0009332 False congenital analbuminemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014453 MONDO:0018338 False immunodeficiency 36 activated PI3K-delta syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014455 MONDO:0016761 False cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014458 MONDO:0018911 False Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young maturity-onset diabetes of the young UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014458 MONDO:0018911 False Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young maturity-onset diabetes of the young UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014459 MONDO:0019713 False Adams-Oliver syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014461 MONDO:0018800 False hypogonadotropic hypogonadism 22 with or without anosmia Kallmann syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014471 MONDO:0000732 False mitochondrial proton-transporting ATP synthase complex deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014473 MONDO:0019342 False microcephaly 13, primary, autosomal recessive Seckel syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014461 MONDO:0018800 False hypogonadotropic hypogonadism 22 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014471 MONDO:0000732 False mitochondrial proton-transporting ATP synthase complex deficiency combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014473 MONDO:0019342 False microcephaly 13, primary, autosomal recessive Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014473 MONDO:0800063 False microcephaly 13, primary, autosomal recessive primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014474 MONDO:0100530 False autosomal recessive limb-girdle muscular dystrophy type 2U myopathy caused by variation in CRPPA UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014477 MONDO:0018614 False developmental and epileptic encephalopathy, 26 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014477 MONDO:0100455 False developmental and epileptic encephalopathy, 26 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014479 MONDO:0019212 False porokeratosis 8, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014480 MONDO:0016674 False 46,XY sex reversal 9 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014482 MONDO:0002254 False intellectual disability, autosomal dominant 29 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014486 MONDO:0002254 False intellectual disability, autosomal dominant 30 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014487 MONDO:0002254 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014487 MONDO:0005046 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014488 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 5 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014482 MONDO:0002254 False intellectual disability, autosomal dominant 29 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014486 MONDO:0002254 False intellectual disability, autosomal dominant 30 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014487 MONDO:0002254 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014487 MONDO:0005046 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014488 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 5 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014488 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 5 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014493 MONDO:0017979 False autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014493 MONDO:0017979 False autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014494 MONDO:0100171 False psoriasis 15, pustular, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014495 MONDO:0002254 False retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014495 MONDO:0003847 False retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26705,49 +26729,49 @@ MONDO:0014500 MONDO:0003847 False atrial conduction disease hereditary disease U MONDO:0014500 MONDO:0005449 False atrial conduction disease conduction system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014501 MONDO:0003004 False macular degeneration, early-onset macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014501 MONDO:0019118 False macular degeneration, early-onset inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014505 MONDO:0018097 False developmental and epileptic encephalopathy, 27 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014507 MONDO:0018230 False Catel-Manzke syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014505 MONDO:0018097 False developmental and epileptic encephalopathy, 27 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014507 MONDO:0018230 False Catel-Manzke syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014508 MONDO:0011979 False vitelliform macular dystrophy 4 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0011979 False vitelliform macular dystrophy 5 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0700242 False vitelliform macular dystrophy 5 IMPG2-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014510 MONDO:0005328 False fatty acyl-CoA reductase 1 deficiency eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014510 MONDO:0005328 False fatty acyl-CoA reductase 1 deficiency eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014510 MONDO:0100275 False fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014513 MONDO:0015735 False nemaline myopathy 10 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014513 MONDO:0015737 False nemaline myopathy 10 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014515 MONDO:0005150 False macular dystrophy with central cone involvement age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014515 MONDO:0005150 False macular dystrophy with central cone involvement age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014519 MONDO:0020573 False chronic mountain sickness, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014521 MONDO:0005395 False progressive myoclonic epilepsy type 7 movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014522 MONDO:0019200 False retinal dystrophy and obesity retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014521 MONDO:0005395 False progressive myoclonic epilepsy type 7 movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014522 MONDO:0019200 False retinal dystrophy and obesity retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014526 MONDO:0100314 False polyglucosan body myopathy type 2 GYG1-related disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014527 MONDO:0021147 False progeroid features-hepatocellular carcinoma predisposition syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014528 MONDO:0003847 False chronic atrial and intestinal dysrhythmia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014528 MONDO:0005020 False chronic atrial and intestinal dysrhythmia intestinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014529 MONDO:0002320 False cerebellar-facial-dental syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014528 MONDO:0003847 False chronic atrial and intestinal dysrhythmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014528 MONDO:0005020 False chronic atrial and intestinal dysrhythmia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014529 MONDO:0002320 False cerebellar-facial-dental syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014533 MONDO:0018614 False developmental and epileptic encephalopathy, 28 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014533 MONDO:0100455 False developmental and epileptic encephalopathy, 28 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014535 MONDO:0003847 False hyperproinsulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014536 MONDO:0011071 False thrombocytopenia 5 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014538 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 5 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014538 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014540 MONDO:0015047 False amelogenesis imperfecta type 1H amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014542 MONDO:0002320 False congenital myasthenic syndrome 15 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014543 MONDO:0011933 False congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014542 MONDO:0002320 False congenital myasthenic syndrome 15 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014543 MONDO:0011933 False congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014544 MONDO:0800064 False osteogenesis imperfecta type 16 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014546 MONDO:0700223 False myopathy due to calsequestrin and SERCA1 protein overload hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014551 MONDO:0003847 False short stature with nonspecific skeletal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014552 MONDO:0002320 False lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014553 MONDO:0003847 False Tenorio syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0000508 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0002320 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0005267 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0015338 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014558 MONDO:0100172 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014559 MONDO:0005395 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014559 MONDO:0019216 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014558 MONDO:0000508 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014558 MONDO:0002320 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014558 MONDO:0005267 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014558 MONDO:0015338 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014558 MONDO:0100172 False autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014559 MONDO:0005395 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014559 MONDO:0019216 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014560 MONDO:0015047 False amelogenesis imperfecta type 1F amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014563 MONDO:0003847 False mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014563 MONDO:0044970 False mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014564 MONDO:0100372 False congenital bile acid synthesis defect 5 disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014565 MONDO:0011060 False cataract 43 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014565 MONDO:0011060 False cataract 43 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014573 MONDO:0800064 False Cole-Carpenter syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0002051 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014574 MONDO:0002254 False peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26762,51 +26786,51 @@ MONDO:0014585 MONDO:0020344 False congenital myasthenic syndrome 3C postsynaptic MONDO:0014586 MONDO:0020344 False congenital myasthenic syndrome 4B postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014587 MONDO:0020344 False congenital myasthenic syndrome 9 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014588 MONDO:0020344 False congenital myasthenic syndrome 11 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014590 MONDO:0002320 False congenital myasthenic syndrome 18 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014590 MONDO:0002320 False congenital myasthenic syndrome 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014591 MONDO:0008389 False autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014593 MONDO:0018614 False developmental and epileptic encephalopathy, 29 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014593 MONDO:0100455 False developmental and epileptic encephalopathy, 29 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014595 MONDO:0016022 False developmental and epileptic encephalopathy, 30 early myoclonic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014595 MONDO:0018097 False developmental and epileptic encephalopathy, 30 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014598 MONDO:0016532 False developmental and epileptic encephalopathy, 31 Lennox-Gastaut syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014595 MONDO:0016022 False developmental and epileptic encephalopathy, 30 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014595 MONDO:0018097 False developmental and epileptic encephalopathy, 30 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014598 MONDO:0016532 False developmental and epileptic encephalopathy, 31 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014598 MONDO:0018614 False developmental and epileptic encephalopathy, 31 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014598 MONDO:0100455 False developmental and epileptic encephalopathy, 31 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014601 MONDO:0002320 False autosomal recessive spinocerebellar ataxia 20 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014602 MONDO:0000508 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014602 MONDO:0002320 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014602 MONDO:0100172 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014605 MONDO:0002254 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014606 MONDO:0000508 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014606 MONDO:0002320 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014601 MONDO:0002320 False autosomal recessive spinocerebellar ataxia 20 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014602 MONDO:0000508 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014602 MONDO:0002320 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014602 MONDO:0100172 False intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014605 MONDO:0002254 False microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014606 MONDO:0000508 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014606 MONDO:0002320 False intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014607 MONDO:0018614 False developmental and epileptic encephalopathy, 32 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014607 MONDO:0100455 False developmental and epileptic encephalopathy, 32 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014608 MONDO:0002051 False mandibulofacial dysostosis with alopecia integumentary system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014609 MONDO:0018230 False cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014611 MONDO:0004884 False multiple mitochondrial dysfunctions syndrome 4 eye degenerative disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014608 MONDO:0002051 False mandibulofacial dysostosis with alopecia integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014609 MONDO:0018230 False cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014611 MONDO:0004884 False multiple mitochondrial dysfunctions syndrome 4 eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014613 MONDO:0800467 False pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014614 MONDO:0002320 False congenital stationary night blindness 1G congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014624 MONDO:0003847 False Brown syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014614 MONDO:0002320 False congenital stationary night blindness 1G congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014624 MONDO:0003847 False Brown syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014625 MONDO:0018614 False developmental and epileptic encephalopathy, 33 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014625 MONDO:0100455 False developmental and epileptic encephalopathy, 33 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014628 MONDO:0700007 False basal ganglia calcification, idiopathic, 6 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014629 MONDO:0005087 False autoimmune interstitial lung disease-arthritis syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014629 MONDO:0005087 False autoimmune interstitial lung disease-arthritis syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014631 MONDO:0018101 False hypomagnesemia, seizures, and intellectual disability familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014633 MONDO:0016025 False myoclonic-atonic epilepsy myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014634 MONDO:0016674 False 46,XY sex reversal 10 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014640 MONDO:0017160 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014640 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014640 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014640 MONDO:0800464 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 SQSTM1-related multisystem proteinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014641 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014641 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014643 MONDO:0003847 False congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0002320 False developmental and epileptic encephalopathy, 50 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014647 MONDO:0005500 False developmental and epileptic encephalopathy, 50 congenital disorder of glycosylation type I UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014648 MONDO:0019502 False Al-Raqad syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014647 MONDO:0002320 False developmental and epileptic encephalopathy, 50 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014647 MONDO:0005500 False developmental and epileptic encephalopathy, 50 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014648 MONDO:0019502 False Al-Raqad syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014656 MONDO:0018002 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014662 MONDO:0002320 False congenital insensitivity to pain-hypohidrosis syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014662 MONDO:0002320 False congenital insensitivity to pain-hypohidrosis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014671 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6B motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014671 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6B hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014672 MONDO:0800064 False osteogenesis imperfecta type 17 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014673 MONDO:0011060 False cataract 44 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014673 MONDO:0011060 False cataract 44 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014676 MONDO:0021106 False Emery-Dreifuss muscular dystrophy 3, autosomal recessive laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014677 MONDO:0100447 False achromatopsia 7 ATF6-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014679 MONDO:0003847 False polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26821,11 +26845,11 @@ MONDO:0014686 MONDO:0005039 False short stature, microcephaly, and endocrine dys MONDO:0014686 MONDO:0005151 False short stature, microcephaly, and endocrine dysfunction endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014686 MONDO:0800063 False short stature, microcephaly, and endocrine dysfunction primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014688 MONDO:0018342 False short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014690 MONDO:0005570 False dyskeratosis congenita, autosomal dominant 6 hematologic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014690 MONDO:0005570 False dyskeratosis congenita, autosomal dominant 6 hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014694 MONDO:0010180 False spondylocostal dysostosis 6, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0003847 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0005328 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014699 MONDO:0100172 False intellectual disability, autosomal dominant 40 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014699 MONDO:0100172 False intellectual disability, autosomal dominant 40 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014700 MONDO:0100500 False Au-Kline syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014702 MONDO:0100126 False autosomal recessive complex spastic paraplegia type 9B P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014703 MONDO:0019713 False Adams-Oliver syndrome 6 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26851,14 +26875,14 @@ MONDO:0014722 MONDO:0800063 False Roifman syndrome primordial dwarfism and slend MONDO:0014723 MONDO:0002254 False PMP22-RAI1 contiguous gene duplication syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014723 MONDO:0003847 False PMP22-RAI1 contiguous gene duplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014734 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 14 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014737 MONDO:0003689 False dehydrated hereditary stomatocytosis 2 familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014737 MONDO:0003689 False dehydrated hereditary stomatocytosis 2 familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014741 MONDO:0003847 False DeSanto-Shinawi syndrome due to WAC point mutation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014743 MONDO:0100265 False rhizomelic chondrodysplasia punctata type 5 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014744 MONDO:0002254 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014744 MONDO:0002254 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014744 MONDO:0020683 False acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014745 MONDO:0020344 False congenital myasthenic syndrome 19 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0002320 False SLC39A8-CDG congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014746 MONDO:0015327 False SLC39A8-CDG developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014746 MONDO:0002320 False SLC39A8-CDG congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014746 MONDO:0015327 False SLC39A8-CDG developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0002254 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0003847 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014747 MONDO:0024458 False familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26885,16 +26909,16 @@ MONDO:0014784 MONDO:0005267 False severe hypotonia-psychomotor developmental del MONDO:0014786 MONDO:0020573 False IgA nephropathy, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014787 MONDO:0002320 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014787 MONDO:0003847 False severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014788 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014788 MONDO:0016333 False autosomal recessive limb-girdle muscular dystrophy type 2W familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014791 MONDO:0002254 False Luscan-Lumish syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014791 MONDO:0003847 False Luscan-Lumish syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014795 MONDO:0003847 False exercise intolerance, riboflavin-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014799 MONDO:0011060 False cataract 45 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014799 MONDO:0011060 False cataract 45 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014800 MONDO:0100084 False progressive scapulohumeroperoneal distal myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014801 MONDO:0002254 False even-plus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014801 MONDO:0016761 False even-plus syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014804 MONDO:0016828 False sideroblastic anemia 3 autosomal recessive sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014805 MONDO:0016894 False Hao-Fountain syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014804 MONDO:0016828 False sideroblastic anemia 3 autosomal recessive sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014805 MONDO:0016894 False Hao-Fountain syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014805 MONDO:0100500 False Hao-Fountain syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014808 MONDO:0015170 False congenital secretory sodium diarrhea 8 congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014808 MONDO:0045032 False congenital secretory sodium diarrhea 8 congenital secretory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26908,7 +26932,7 @@ MONDO:0014825 MONDO:0016893 False chromosome 11p13 deletion syndrome, distal par MONDO:0014831 MONDO:0023603 False progeroid and marfanoid aspect-lipodystrophy syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0000508 False intellectual disability, autosomal recessive 53 syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014832 MONDO:0002320 False intellectual disability, autosomal recessive 53 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014832 MONDO:0015905 False intellectual disability, autosomal recessive 53 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014832 MONDO:0015905 False intellectual disability, autosomal recessive 53 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014833 MONDO:0003847 False heart and brain malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014837 MONDO:0023603 False thrombocytopenia 6 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014838 MONDO:0700120 False Coffin-Siris syndrome 5 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26917,36 +26941,36 @@ MONDO:0014840 MONDO:0011096 False agammaglobulinemia 8, autosomal dominant autos MONDO:0014848 MONDO:0002320 False TELO2-related intellectual disability-neurodevelopmental disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0003847 False TELO2-related intellectual disability-neurodevelopmental disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014848 MONDO:0015160 False TELO2-related intellectual disability-neurodevelopmental disorder multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014848 MONDO:0016908 False TELO2-related intellectual disability-neurodevelopmental disorder partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014848 MONDO:0019054 False TELO2-related intellectual disability-neurodevelopmental disorder congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014848 MONDO:0020022 False TELO2-related intellectual disability-neurodevelopmental disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014848 MONDO:0016908 False TELO2-related intellectual disability-neurodevelopmental disorder partial monosomy of the long arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014848 MONDO:0019054 False TELO2-related intellectual disability-neurodevelopmental disorder congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014848 MONDO:0020022 False TELO2-related intellectual disability-neurodevelopmental disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014850 MONDO:0003847 False retinitis pigmentosa and erythrocytic microcytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014857 MONDO:0100500 False neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014862 MONDO:0100500 False cerebral palsy, spastic quadriplegic, 3 Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014862 MONDO:0100516 False cerebral palsy, spastic quadriplegic, 3 complex neurodevelopmental disorder with motor features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014863 MONDO:0003847 False macrocephaly, dysmorphic facies, and psychomotor retardation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014864 MONDO:0005071 False hypermanganesemia with dystonia 2 nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014864 MONDO:0006025 False hypermanganesemia with dystonia 2 autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014873 MONDO:0005073 False nevus comedonicus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014864 MONDO:0005071 False hypermanganesemia with dystonia 2 nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014864 MONDO:0006025 False hypermanganesemia with dystonia 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014873 MONDO:0005073 False nevus comedonicus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014873 MONDO:0100118 False nevus comedonicus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014881 MONDO:0005267 False transketolase deficiency heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014881 MONDO:0015327 False transketolase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014881 MONDO:0015327 False transketolase deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014886 MONDO:0100118 False severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014888 MONDO:0002254 False MIRAGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014888 MONDO:0003847 False MIRAGE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014888 MONDO:0002254 False MIRAGE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014888 MONDO:0003847 False MIRAGE syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014891 MONDO:0100337 False hyperuricemic nephropathy, familial juvenile type 4 SEC61A1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014892 MONDO:0000508 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014892 MONDO:0002320 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014892 MONDO:0000508 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014892 MONDO:0002320 False micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014893 MONDO:0100500 False Okur-Chung neurodevelopmental syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014895 MONDO:0018097 False developmental and epileptic encephalopathy, 40 West syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014895 MONDO:0018097 False developmental and epileptic encephalopathy, 40 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014898 MONDO:0016810 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 autosomal recessive progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014902 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014905 MONDO:0100198 False encephalopathy due to defective mitochondrial and peroxisomal fission 2 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014911 MONDO:0002254 False growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014911 MONDO:0006025 False growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014914 MONDO:0700120 False Dias-Logan syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014915 MONDO:0009032 False short-rib thoracic dysplasia 16 with or without polydactyly cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014916 MONDO:0016022 False developmental and epileptic encephalopathy, 41 early myoclonic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014915 MONDO:0009032 False short-rib thoracic dysplasia 16 with or without polydactyly cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014916 MONDO:0016022 False developmental and epileptic encephalopathy, 41 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014916 MONDO:0018614 False developmental and epileptic encephalopathy, 41 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014916 MONDO:0100455 False developmental and epileptic encephalopathy, 41 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014917 MONDO:0018614 False developmental and epileptic encephalopathy, 42 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26954,13 +26978,13 @@ MONDO:0014917 MONDO:0100254 False developmental and epileptic encephalopathy, 42 MONDO:0014917 MONDO:0100455 False developmental and epileptic encephalopathy, 42 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014918 MONDO:0003847 False tall stature-intellectual disability-renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014919 MONDO:0015524 False sessile serrated polyposis cancer syndrome hyperplastic polyposis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014921 MONDO:0016532 False developmental and epileptic encephalopathy, 43 Lennox-Gastaut syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014921 MONDO:0016532 False developmental and epileptic encephalopathy, 43 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014923 MONDO:0017339 False peeling skin syndrome 5 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014928 MONDO:0016364 False Joubert syndrome 28 Joubert syndrome with ocular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014931 MONDO:0003847 False Alazami-Yuan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014933 MONDO:0018614 False developmental and epileptic encephalopathy, 44 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014933 MONDO:0100455 False developmental and epileptic encephalopathy, 44 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014934 MONDO:0020380 False spinocerebellar ataxia, autosomal recessive 24 autosomal dominant cerebellar ataxia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014934 MONDO:0020380 False spinocerebellar ataxia, autosomal recessive 24 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014936 MONDO:0003847 False ZTTK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0002466 False aniridia 2 eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0002658 False aniridia 2 iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26970,8 +26994,8 @@ MONDO:0014938 MONDO:0002466 False aniridia 3 eye carcinoma UNSUPPORTED-MISSING U MONDO:0014938 MONDO:0002658 False aniridia 3 iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014938 MONDO:0003008 False aniridia 3 hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014938 MONDO:0100534 False aniridia 3 SMARCB1-deficient kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014940 MONDO:0003847 False neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014941 MONDO:0019942 False arthrogryposis, distal, with impaired proprioception and touch distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014940 MONDO:0003847 False neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014941 MONDO:0019942 False arthrogryposis, distal, with impaired proprioception and touch distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014942 MONDO:0018614 False developmental and epileptic encephalopathy, 45 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014942 MONDO:0100455 False developmental and epileptic encephalopathy, 45 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014944 MONDO:0000508 False short stature-brachydactyly-obesity-global developmental delay syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26986,7 +27010,7 @@ MONDO:0014949 MONDO:0100455 False developmental and epileptic encephalopathy, 47 MONDO:0014952 MONDO:0002254 False intellectual disability-epilepsy-extrapyramidal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014952 MONDO:0003847 False intellectual disability-epilepsy-extrapyramidal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014954 MONDO:0007527 False Ehlers-Danlos syndrome, periodontal type 2 Ehlers-Danlos syndrome, periodontitis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014955 MONDO:0009979 False RCBTB1-related retinopathy reticular dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014955 MONDO:0009979 False RCBTB1-related retinopathy reticular dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014956 MONDO:0003847 False Chitayat syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014957 MONDO:0003847 False language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014958 MONDO:0100500 False Harel-Yoon syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26998,8 +27022,8 @@ MONDO:0014971 MONDO:0015048 False amelogenesis imperfecta, hypomaturation type, MONDO:0014972 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, proximal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014973 MONDO:0003847 False sudden cardiac failure, infantile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014974 MONDO:0003847 False sudden cardiac failure, alcohol-induced hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014976 MONDO:0005267 False lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome heart disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014977 MONDO:0002320 False autosomal recessive limb-girdle muscular dystrophy type 2R1 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014976 MONDO:0005267 False lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014977 MONDO:0002320 False autosomal recessive limb-girdle muscular dystrophy type 2R1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014979 MONDO:0003847 False myoclonus, intractable, neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014980 MONDO:0003847 False cone-rod dystrophy and hearing loss hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014984 MONDO:0003847 False lung disease, immunodeficiency, and chromosome breakage syndrome; hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27016,56 +27040,56 @@ MONDO:0015006 MONDO:0000426 False epidermolysis bullosa simplex 6, generalized, MONDO:0015008 MONDO:0015047 False amelogenesis imperfecta, type 1J amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015009 MONDO:0700080 False lymphatic malformation 7 EPHB4-associated vascular malformation spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015012 MONDO:0005087 False mucopolysaccharidosis-plus syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0015327 False mucopolysaccharidosis-plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0015327 False mucopolysaccharidosis-plus syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015012 MONDO:0100365 False mucopolysaccharidosis-plus syndrome mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015012 MONDO:0800088 False mucopolysaccharidosis-plus syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015012 MONDO:0800088 False mucopolysaccharidosis-plus syndrome lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015014 MONDO:0003847 False coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015016 MONDO:0800472 False anterior segment dysgenesis 6 CYP1B1-related glaucoma with or without anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015019 MONDO:0003847 False Yao syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015022 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies and ptosis syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015022 MONDO:0003847 False intellectual developmental disorder with dysmorphic facies and ptosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015027 MONDO:0015356 False familial isolated hyperparathyroidism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015028 MONDO:0002254 False 48,XXYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015027 MONDO:0015356 False familial isolated hyperparathyroidism hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015028 MONDO:0002254 False 48,XXYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015033 MONDO:0011583 False ABeta amyloidosis, dutch type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015049 MONDO:0024477 False solitary necrotic nodule of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015050 MONDO:0003749 False esophageal duplication cyst esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015051 MONDO:0003749 False tubular duplication of the esophagus esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015059 MONDO:0005395 False progressive non-fluent aphasia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015059 MONDO:0005395 False progressive non-fluent aphasia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015059 MONDO:0011842 False progressive non-fluent aphasia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015060 MONDO:0700010 False mosaic trisomy 3 chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015060 MONDO:0700065 False mosaic trisomy 3 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015063 MONDO:0024500 False duodenal neuroendocrine tumor, well differentiated, low or intermediate grade duodenal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015066 MONDO:0015067 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015066 MONDO:0015067 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0024479 False neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015069 MONDO:0015068 False neuroendocrine tumor of the anal canal neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015070 MONDO:0024623 False laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015069 MONDO:0015068 False neuroendocrine tumor of the anal canal neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015070 MONDO:0024623 False laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015071 MONDO:0021366 False middle ear neuroendocrine tumor neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015073 MONDO:0021385 False gallbladder neuroendocrine tumor, grade 1/2 extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015074 MONDO:0002082 False thyroid tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015073 MONDO:0021385 False gallbladder neuroendocrine tumor, grade 1/2 extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015074 MONDO:0002082 False thyroid tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0002254 False FRAXF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015084 MONDO:0003847 False FRAXF syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015087 MONDO:0000426 False autosomal dominant complex spastic paraplegia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015095 MONDO:0011414 False Peters anomaly-cataract syndrome Peters anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015096 MONDO:0008737 False familial hypofibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015104 MONDO:0002406 False porphyria cutanea tarda dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015096 MONDO:0008737 False familial hypofibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015104 MONDO:0002406 False porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015109 MONDO:0003767 False congenital anomaly of the mitral subvalvular apparatus mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015126 MONDO:0005151 False polyendocrinopathy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015127 MONDO:0005151 False pituitary deficiency endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015128 MONDO:0005495 False primary adrenal insufficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015131 MONDO:0021094 False combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015128 MONDO:0005495 False primary adrenal insufficiency adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015131 MONDO:0021094 False combined immunodeficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015134 MONDO:0001475 False constitutional neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015134 MONDO:0009332 False constitutional neutropenia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015134 MONDO:0009332 False constitutional neutropenia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015140 MONDO:0000426 False early-onset autosomal dominant Alzheimer disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015140 MONDO:0100087 False early-onset autosomal dominant Alzheimer disease familial Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015150 MONDO:0002254 False complex hereditary spastic paraplegia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015167 MONDO:0018230 False amniotic band syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015167 MONDO:0018230 False amniotic band syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015169 MONDO:0044751 False chronic diarrhea due to glucoamylase deficiency chronic diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015170 MONDO:0000824 False congenital sodium diarrhea congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015171 MONDO:0005020 False congenital enterocyte heparan sulfate deficiency intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015174 MONDO:0019787 False autoimmune enteropathy type 3 autoimmune enteropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015175 MONDO:0000588 False autoimmune pancreatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015175 MONDO:0004982 False autoimmune pancreatitis pancreatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015175 MONDO:0017287 False autoimmune pancreatitis IgG4-related disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015175 MONDO:0000588 False autoimmune pancreatitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015175 MONDO:0004982 False autoimmune pancreatitis pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015175 MONDO:0017287 False autoimmune pancreatitis IgG4-related disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015176 MONDO:0005265 False undetermined colitis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0001256 False vein of Galen aneurysm arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015196 MONDO:0003948 False vein of Galen aneurysm cerebral hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27080,53 +27104,53 @@ MONDO:0015200 MONDO:0024271 False anisakiasis intestinal helminthiasis UNSUPPORT MONDO:0015201 MONDO:0002254 False ankyloblepharon filiforme-imperforate anus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015201 MONDO:0024458 False ankyloblepharon filiforme-imperforate anus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015206 MONDO:0015160 False short stature-heart defect-craniofacial anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015228 MONDO:0002254 False pentasomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015228 MONDO:0002254 False pentasomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015228 MONDO:0700027 False pentasomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015228 MONDO:0700085 False pentasomy X pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015230 MONDO:0002254 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015231 MONDO:0002254 False Bartter syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015231 MONDO:0002254 False Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015232 MONDO:0003847 False radial deficiency-tibial hypoplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015235 MONDO:0015160 False arachnodactyly-intellectual disability-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015236 MONDO:0022606 False aortic arch defects branchial arch disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015237 MONDO:0024623 False arrhinia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015244 MONDO:0100310 False autosomal recessive cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015247 MONDO:0005395 False opsoclonus-myoclonus syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015247 MONDO:0005395 False opsoclonus-myoclonus syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015248 MONDO:0002320 False ataxia-photosensitivity-short stature syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0003767 False mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015249 MONDO:0005453 False mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0003767 False mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015249 MONDO:0005453 False mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015252 MONDO:0002320 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001705 False Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015253 MONDO:0001705 False Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015254 MONDO:0100120 False schistosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015257 MONDO:0007263 False sino-auricular heart block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015260 MONDO:0042488 False diphyllobothriasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015263 MONDO:0002254 False Brugada syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015265 MONDO:0002465 False bronchiolitis obliterans syndrome bronchiolitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015268 MONDO:0002473 False medullary sponge kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015263 MONDO:0002254 False Brugada syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015265 MONDO:0002465 False bronchiolitis obliterans syndrome bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015268 MONDO:0002473 False medullary sponge kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015268 MONDO:0021147 False medullary sponge kidney disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015269 MONDO:0005071 False symmetrical thalamic calcifications nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015271 MONDO:0700007 False idiopathic camptocormia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015277 MONDO:0005034 False medullary thyroid gland carcinoma thyroid gland follicular carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015278 MONDO:0003847 False familial pancreatic carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015277 MONDO:0005034 False medullary thyroid gland carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015278 MONDO:0003847 False familial pancreatic carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015279 MONDO:0100118 False chronic mucocutaneous candidiasis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015282 MONDO:0002254 False cardiomyopathy-cataract-hip spine disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015283 MONDO:0044970 False maternally-inherited cardiomyopathy and hearing loss mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015286 MONDO:0024322 False congenital disorder of glycosylation disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015288 MONDO:0004609 False herpes simplex virus keratitis herpes simplex infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015288 MONDO:0004609 False herpes simplex virus keratitis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015288 MONDO:0020950 False herpes simplex virus keratitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015288 MONDO:0023865 False herpes simplex virus keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015288 MONDO:0023865 False herpes simplex virus keratitis corneal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015289 MONDO:0020950 False infectious epithelial keratitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015290 MONDO:0005328 False neurotrophic keratopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015291 MONDO:0015288 False stromal keratitis herpes simplex virus keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015292 MONDO:0015288 False endotheliitis herpes simplex virus keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015293 MONDO:0005073 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015293 MONDO:0100118 False segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015294 MONDO:0005093 False nephrogenic systemic fibrosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015294 MONDO:0005093 False nephrogenic systemic fibrosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015295 MONDO:0005020 False intractable diarrhea-choanal atresia-eye anomalies syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015296 MONDO:0005267 False cardiac anomalies-heterotaxy syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015298 MONDO:0000942 False pellucid marginal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015299 MONDO:0002263 False Asherman syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015300 MONDO:0002254 False cataract - microcornea syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015306 MONDO:0005229 False Lemierre syndrome bacterial infectious disease with sepsis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015306 MONDO:0005229 False Lemierre syndrome bacterial infectious disease with sepsis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015308 MONDO:0021187 False laminopathy type Decaudain-Vigouroux hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015311 MONDO:0002254 False autism-facial port-wine stain syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015314 MONDO:0004382 False primary laryngeal lymphangioma laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27138,27 +27162,27 @@ MONDO:0015317 MONDO:0024623 False laryngotracheal angioma otorhinolaryngologic d MONDO:0015324 MONDO:0002254 False cataract-intellectual disability-anal atresia-urinary defects syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015325 MONDO:0002254 False cataract-deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015327 MONDO:0005066 False developmental anomaly of metabolic origin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015333 MONDO:0019303 False progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015333 MONDO:0019303 False progeroid syndrome premature aging syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015338 MONDO:0002254 False syndromic craniosynostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015338 MONDO:0018230 False syndromic craniosynostosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015338 MONDO:0018230 False syndromic craniosynostosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015340 MONDO:0005492 False drug rash with eosinophilia and systemic symptoms urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015341 MONDO:0005073 False congenital panfollicular nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015342 MONDO:0002565 False acute transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015342 MONDO:0002565 False acute transverse myelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015342 MONDO:0020683 False acute transverse myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015344 MONDO:0700007 False idiopathic acute transverse myelitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015350 MONDO:0003847 False 17q11.2 microduplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015353 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015353 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015354 MONDO:0002254 False hereditary sensory and autonomic neuropathy with deafness and global delay syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015354 MONDO:0003847 False hereditary sensory and autonomic neuropathy with deafness and global delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015356 MONDO:0003847 False hereditary neoplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015356 MONDO:0003847 False hereditary neoplastic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015356 MONDO:0020573 False hereditary neoplastic syndrome inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015356 MONDO:0021058 False hereditary neoplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015356 MONDO:0021058 False hereditary neoplastic syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015357 MONDO:0001220 False secondary hypoparathyroidism due to impaired parathormon secretion hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015358 MONDO:0020127 False hereditary motor and sensory neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015364 MONDO:0002321 False hereditary sensory and autonomic neuropathy sensory peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015364 MONDO:0002321 False hereditary sensory and autonomic neuropathy sensory peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015372 MONDO:0100241 False autosomal dominant macrothrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015374 MONDO:0003346 False primary central nervous system vasculitis central nervous system vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015375 MONDO:0003847 False orofaciodigital syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015375 MONDO:0003847 False orofaciodigital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015379 MONDO:0002378 False cervical dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015379 MONDO:0021351 False cervical dermoid cyst neoplasm of neck UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015380 MONDO:0002378 False facial dermoid cyst dermoid cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27182,7 +27206,7 @@ MONDO:0015393 MONDO:0024623 False nasal ganglioglioma otorhinolaryngologic disea MONDO:0015394 MONDO:0024623 False nasal encephalocele otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015395 MONDO:0004382 False congenital subglottic stenosis laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015396 MONDO:0004382 False congenital laryngeal cyst laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015397 MONDO:0007712 False craniofacial microsomia oculoauriculovertebral spectrum with radial defects UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015397 MONDO:0007712 False craniofacial microsomia oculoauriculovertebral spectrum with radial defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015397 MONDO:0021635 False craniofacial microsomia neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015405 MONDO:0001256 False cerebrofacial arteriovenous metameric syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015409 MONDO:0021147 False isolated congenital syngnathia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27195,7 +27219,7 @@ MONDO:0015424 MONDO:0005516 False lethal chondrodysplasia, Moerman type osteocho MONDO:0015424 MONDO:0018230 False lethal chondrodysplasia, Moerman type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0003847 False lethal recessive chondrodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0022723 False lethal recessive chondrodysplasia chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015426 MONDO:0003847 False Desbuquois dysplasia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015426 MONDO:0003847 False Desbuquois dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015429 MONDO:0019118 False choroideremia-hypopituitarism syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700008 False ring chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015430 MONDO:0700091 False ring chromosome 1 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27211,84 +27235,84 @@ MONDO:0015434 MONDO:0700125 False ring chromosome 18 chromosome 18 disorder UNSU MONDO:0015435 MONDO:0700024 False ring chromosome 19 chromosome 19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015435 MONDO:0700091 False ring chromosome 19 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015436 MONDO:0700025 False ring chromosome 20 chromosome 20 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015436 MONDO:0700091 False ring chromosome 20 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015436 MONDO:0700091 False ring chromosome 20 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015437 MONDO:0700091 False ring chromosome 21 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015437 MONDO:0700124 False ring chromosome 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015438 MONDO:0700026 False ring chromosome 22 chromosome 22 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015438 MONDO:0700091 False ring chromosome 22 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015439 MONDO:0700011 False ring chromosome 4 chromosome 4 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015439 MONDO:0700091 False ring chromosome 4 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015439 MONDO:0700091 False ring chromosome 4 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015440 MONDO:0700013 False ring chromosome 6 chromosome 6 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015440 MONDO:0700091 False ring chromosome 6 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015440 MONDO:0700091 False ring chromosome 6 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015441 MONDO:0700014 False ring chromosome 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015441 MONDO:0700091 False ring chromosome 7 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015441 MONDO:0700091 False ring chromosome 7 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015443 MONDO:0700015 False chromosome 8-derived supernumerary ring/marker chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015443 MONDO:0700091 False chromosome 8-derived supernumerary ring/marker ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015443 MONDO:0700091 False chromosome 8-derived supernumerary ring/marker ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015445 MONDO:0000426 False autosomal dominant coarctation of aorta autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015448 MONDO:0000066 False mitochondrial complex III deficiency mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015452 MONDO:0005172 False Coffin-Siris syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015453 MONDO:0000587 False Cogan syndrome autoimmune disease of ear, nose and throat UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015453 MONDO:0000587 False Cogan syndrome autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015454 MONDO:0020698 False multiple carboxylase deficiency inborn error of biotin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015455 MONDO:0004277 False gonococcal conjunctivitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015455 MONDO:0006668 False gonococcal conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015455 MONDO:0004277 False gonococcal conjunctivitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015455 MONDO:0006668 False gonococcal conjunctivitis bacterial conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015457 MONDO:0002254 False corpus callosum agenesis-double urinary collecting system syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015461 MONDO:0002254 False short rib-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015461 MONDO:0002254 False short rib-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015465 MONDO:0042973 False craniometaphyseal dysplasia familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015468 MONDO:0015338 False craniosynostosis-cataract syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015469 MONDO:0003847 False craniosynostosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015469 MONDO:0003847 False craniosynostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015474 MONDO:0024270 False cryptosporidiosis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015476 MONDO:0024623 False cysts and fistulae of the face and oral cavity otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015480 MONDO:0020357 False coloboma of superior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015481 MONDO:0020357 False coloboma of inferior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015480 MONDO:0020357 False coloboma of superior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015481 MONDO:0020357 False coloboma of inferior eyelid coloboma of eyelid UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015483 MONDO:0024623 False mandibulofacial dysostosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015486 MONDO:0003847 False keratoconus hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015486 MONDO:0003847 False keratoconus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015487 MONDO:0005217 False fatal infantile encephalocardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015487 MONDO:0009637 False fatal infantile encephalocardiomyopathy inborn mitochondrial myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015487 MONDO:0009637 False fatal infantile encephalocardiomyopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015492 MONDO:0800113 False anti-neutrophil cytoplasmic antibody-associated vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015496 MONDO:0023369 False macroglossia disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015498 MONDO:0002254 False oromandibular-limb anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015498 MONDO:0018234 False oromandibular-limb anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015498 MONDO:0018234 False oromandibular-limb anomalies syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015500 MONDO:0001256 False facial arteriovenous malformation arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015514 MONDO:0005151 False hereditary endocrine growth disease endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015516 MONDO:0017424 False symbrachydactyly of hands and feet non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015517 MONDO:0016463 False common variable immunodeficiency syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015517 MONDO:0016463 False common variable immunodeficiency syndromic agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015518 MONDO:0005559 False infantile bilateral striatal necrosis neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015519 MONDO:0002320 False congenital or early infantile CACH syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015524 MONDO:0004335 False hyperplastic polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015524 MONDO:0004335 False hyperplastic polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015525 MONDO:0003847 False congenital pseudoarthrosis of the limbs hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0006424 False congenital epulis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0006499 False congenital epulis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015528 MONDO:0021086 False congenital epulis gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0006424 False congenital epulis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0006499 False congenital epulis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015528 MONDO:0021086 False congenital epulis gingival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015528 MONDO:0021580 False congenital epulis neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015530 MONDO:0003543 False trigeminal autonomic cephalalgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015530 MONDO:0017181 False trigeminal autonomic cephalalgia hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015530 MONDO:0043218 False trigeminal autonomic cephalalgia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015540 MONDO:0002254 False hemophagocytic syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015530 MONDO:0003543 False trigeminal autonomic cephalalgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015530 MONDO:0017181 False trigeminal autonomic cephalalgia hypnic headache UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015530 MONDO:0043218 False trigeminal autonomic cephalalgia neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015540 MONDO:0002254 False hemophagocytic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015547 MONDO:0001627 False hereditary dementia dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015547 MONDO:0003847 False hereditary dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015548 MONDO:0000167 False Huntington disease-like syndrome Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015548 MONDO:0015547 False Huntington disease-like syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015548 MONDO:0015547 False Huntington disease-like syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015550 MONDO:0017610 False suprabasal epidermolysis bullosa simplex epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015557 MONDO:0020331 False Smouldering systemic mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015558 MONDO:0020331 False isolated bone marrow mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015557 MONDO:0020331 False Smouldering systemic mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015558 MONDO:0020331 False isolated bone marrow mastocytosis indolent systemic mastocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015565 MONDO:0005265 False cap polyposis inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015567 MONDO:0002254 False cataract-glaucoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015567 MONDO:0024458 False cataract-glaucoma syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015568 MONDO:0024623 False isolated congenital nasal pyriform aperture stenosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015573 MONDO:0005282 False subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015573 MONDO:0005282 False subacute cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015573 MONDO:0020683 False subacute cutaneous lupus erythematosus acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015574 MONDO:0005282 False chronic cutaneous lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015579 MONDO:0009369 False Hb Bart's hydrops fetalis non-immune hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015579 MONDO:0009369 False Hb Bart's hydrops fetalis non-immune hydrops fetalis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015589 MONDO:0015588 False paraneoplastic limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015589 MONDO:0018215 False paraneoplastic limbic encephalitis paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015592 MONDO:0020068 False limbic encephalitis with LGI1 antibodies postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015595 MONDO:0015588 False posttransplant acute limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015595 MONDO:0700220 False posttransplant acute limbic encephalitis disease related to transplantation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015595 MONDO:0700220 False posttransplant acute limbic encephalitis disease related to transplantation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015596 MONDO:0015588 False non-herpetic acute limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015599 MONDO:0005328 False atopic keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015600 MONDO:0020119 False X-linked intellectual disability, Cilliers type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015604 MONDO:0024623 False middle ear anomaly otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015605 MONDO:0008013 False distal monosomy 9p chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015605 MONDO:0008013 False distal monosomy 9p chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0000761 False partial chromosome Y deletion syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0005372 False partial chromosome Y deletion male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015607 MONDO:0700028 False partial chromosome Y deletion chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27296,39 +27320,39 @@ MONDO:0015609 MONDO:0024361 False advanced sleep phase syndrome circadian rhythm MONDO:0015627 MONDO:0004603 False multiple epiphyseal dysplasia due to collagen 9 anomaly collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015627 MONDO:0023603 False multiple epiphyseal dysplasia due to collagen 9 anomaly hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015634 MONDO:0001414 False isolated osteopoikilosis osteopoikilosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015635 MONDO:0005073 False porokeratotic eccrine ostial and dermal duct nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015635 MONDO:0024247 False porokeratotic eccrine ostial and dermal duct nevus benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015635 MONDO:0024482 False porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015635 MONDO:0005073 False porokeratotic eccrine ostial and dermal duct nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015635 MONDO:0024247 False porokeratotic eccrine ostial and dermal duct nevus benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015635 MONDO:0024482 False porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015636 MONDO:0005943 False dirofilariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0023224 False photosensitive epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015643 MONDO:0043459 False photosensitive epilepsy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015643 MONDO:0043459 False photosensitive epilepsy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015650 MONDO:0005027 False epilepsy syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015653 MONDO:0003847 False monogenic epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015653 MONDO:0005027 False monogenic epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015660 MONDO:0002602 False sporadic fetal brain disruption sequence central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015663 MONDO:0002254 False diencephalic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015663 MONDO:0005151 False diencephalic syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015663 MONDO:0002254 False diencephalic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015663 MONDO:0005151 False diencephalic syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015664 MONDO:0700007 False idiopathic pulmonary artery dilatation idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015666 MONDO:0700007 False familial idiopathic dilatation of the right atrium idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015672 MONDO:0021147 False diprosopus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015675 MONDO:0005135 False distomatosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015686 MONDO:0002113 False primary peritoneal carcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015691 MONDO:0002254 False hypereosinophilic syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015691 MONDO:0002254 False hypereosinophilic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015691 MONDO:0044972 False hypereosinophilic syndrome eosinophil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015694 MONDO:0005105 False malignant melanoma of the mucosa melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015695 MONDO:0015131 False combined immunodeficiency due to CRAC channel dysfunction combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015696 MONDO:0015977 False Good syndrome agammaglobulinemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015695 MONDO:0015131 False combined immunodeficiency due to CRAC channel dysfunction combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015696 MONDO:0015977 False Good syndrome agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015701 MONDO:0021147 False T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015705 MONDO:0100493 False autosomal recessive centronuclear myopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015706 MONDO:0700008 False mosaic trisomy 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015706 MONDO:0700065 False mosaic trisomy 1 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015713 MONDO:0019165 False idiopathic central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015713 MONDO:0019165 False idiopathic central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015713 MONDO:0700007 False idiopathic central precocious puberty idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015714 MONDO:0019165 False secondary central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015714 MONDO:0019165 False secondary central precocious puberty central precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015718 MONDO:0700019 False mosaic trisomy 12 chromosome 12 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015718 MONDO:0700065 False mosaic trisomy 12 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015722 MONDO:0002242 False congenital vitamin K-dependent coagulation factors deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015722 MONDO:0002243 False congenital vitamin K-dependent coagulation factors deficiency hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015722 MONDO:0002243 False congenital vitamin K-dependent coagulation factors deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015722 MONDO:0009332 False congenital vitamin K-dependent coagulation factors deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015725 MONDO:0700021 False mosaic trisomy 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015725 MONDO:0700065 False mosaic trisomy 14 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27341,7 +27365,7 @@ MONDO:0015730 MONDO:0700065 False mosaic trisomy 17 trisomy UNSUPPORTED-MISSING MONDO:0015731 MONDO:0021147 False high anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015732 MONDO:0021147 False intermediate anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015733 MONDO:0021147 False low anorectal malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015734 MONDO:0019938 False rectal duplication anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015734 MONDO:0019938 False rectal duplication anorectal malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015735 MONDO:0002320 False severe congenital nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015736 MONDO:0002320 False intermediate nemaline myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015736 MONDO:0005336 False intermediate nemaline myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27351,35 +27375,35 @@ MONDO:0015739 MONDO:0002320 False adult-onset nemaline myopathy congenital nervo MONDO:0015743 MONDO:0024623 False idiopathic bilateral vestibulopathy otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015743 MONDO:0700007 False idiopathic bilateral vestibulopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015745 MONDO:0021147 False microcephaly-polymicrogyria-corpus callosum agenesis syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015748 MONDO:0005073 False hereditary mucosal leukokeratosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015748 MONDO:0005073 False hereditary mucosal leukokeratosis melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015748 MONDO:0100118 False hereditary mucosal leukokeratosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015752 MONDO:0002254 False intellectual disability-cataracts-kyphosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015753 MONDO:0100084 False cap myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015753 MONDO:0100108 False cap myopathy TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015756 MONDO:0045024 False myeloid hemopathy cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015757 MONDO:0002334 False lymphoid hemopathy hematopoietic and lymphoid system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015762 MONDO:0002254 False progressive familial intrahepatic cholestasis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015762 MONDO:0002254 False progressive familial intrahepatic cholestasis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015763 MONDO:0700009 False mosaic trisomy 2 chromosome 2 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015763 MONDO:0700065 False mosaic trisomy 2 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015764 MONDO:0022757 False mosaic trisomy 20 chromosome 20 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015766 MONDO:0007014 False cholera vibrio infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015770 MONDO:0018555 False congenital hypogonadotropic hypogonadism hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015770 MONDO:0018555 False congenital hypogonadotropic hypogonadism hypogonadotropic hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015771 MONDO:0700014 False mosaic trisomy 7 chromosome 7 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015771 MONDO:0700065 False mosaic trisomy 7 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015774 MONDO:0002254 False thoraco-abdominal enteric duplication syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015774 MONDO:0004335 False thoraco-abdominal enteric duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015776 MONDO:0005328 False rhizomelic chondrodysplasia punctata eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015776 MONDO:0005328 False rhizomelic chondrodysplasia punctata eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015782 MONDO:0003847 False dysmorphism-cleft palate-loose skin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015790 MONDO:0100070 False central diabetes insipidus neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015795 MONDO:0024477 False undifferentiated embryonal sarcoma of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015796 MONDO:0005275 False acute lung injury lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015796 MONDO:0005275 False acute lung injury lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015796 MONDO:0020683 False acute lung injury acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015796 MONDO:0021178 False acute lung injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015796 MONDO:0021178 False acute lung injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015797 MONDO:0021190 False UV-sensitive syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015799 MONDO:0016761 False Smith-McCort dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015799 MONDO:0016761 False Smith-McCort dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015801 MONDO:0002242 False hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015801 MONDO:0002243 False hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015802 MONDO:0000509 False autosomal dominant non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015802 MONDO:0000509 False autosomal dominant non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015802 MONDO:0100172 False autosomal dominant non-syndromic intellectual disability intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015807 MONDO:0003847 False myopic macular degeneration hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015807 MONDO:0005283 False myopic macular degeneration retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27410,19 +27434,19 @@ MONDO:0015854 MONDO:0002657 False supernumerary breasts breast disorder UNSUPPOR MONDO:0015855 MONDO:0002657 False isolated congenital breast hypoplasia/aplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015855 MONDO:0003847 False isolated congenital breast hypoplasia/aplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015856 MONDO:0002657 False syndromic breast hypoplasia/aplasia breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015863 MONDO:0003578 False polyembryoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015863 MONDO:0003578 False polyembryoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015872 MONDO:0000620 False giant adenofibroma of the breast breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015874 MONDO:0021100 False benign ductal tumor of breast breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015884 MONDO:0000426 False autosomal dominant hypohidrotic ectodermal dysplasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015892 MONDO:0002254 False growth hormone insensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015892 MONDO:0002254 False growth hormone insensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015898 MONDO:0005495 False adrenogenital syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015898 MONDO:0045012 False adrenogenital syndrome steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015900 MONDO:0005495 False hypoaldosteronism disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015903 MONDO:0021187 False hyperalphalipoproteinemia hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015903 MONDO:0037748 False hyperalphalipoproteinemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015903 MONDO:0037748 False hyperalphalipoproteinemia hyperlipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015905 MONDO:0002254 False syndromic dyslipidemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015908 MONDO:0002040 False chromomycosis dermatomycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015912 MONDO:0002254 False macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015908 MONDO:0002040 False chromomycosis dermatomycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015912 MONDO:0002254 False macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015914 MONDO:0005071 False primary orthostatic hypotension nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015923 MONDO:0005244 False acquired peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015924 MONDO:0005149 False pulmonary arterial hypertension pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27431,84 +27455,84 @@ MONDO:0015927 MONDO:0700007 False idiopathic eosinophilic pneumonia idiopathic d MONDO:0015935 MONDO:0002598 False extragonadal germinoma germinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015935 MONDO:0003113 False extragonadal germinoma extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015941 MONDO:0002254 False epiphyseal dysplasia-hearing loss-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015943 MONDO:0002254 False eosinophilic granulomatosis with polyangiitis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015943 MONDO:0012105 False eosinophilic granulomatosis with polyangiitis granulomatosis with polyangiitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015943 MONDO:0002254 False eosinophilic granulomatosis with polyangiitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0015943 MONDO:0012105 False eosinophilic granulomatosis with polyangiitis granulomatosis with polyangiitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015944 MONDO:0002254 False axial mesodermal dysplasia spectrum syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015944 MONDO:0021147 False axial mesodermal dysplasia spectrum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015947 MONDO:0100118 False inherited ichthyosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015951 MONDO:0100118 False hereditary photodermatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015962 MONDO:0021568 False inherited renal tubular disease renal tubule disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015962 MONDO:0100191 False inherited renal tubular disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015967 MONDO:0005015 False monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015967 MONDO:0019052 False monogenic diabetes inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015967 MONDO:0005015 False monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015967 MONDO:0019052 False monogenic diabetes inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015978 MONDO:0004805 False functional neutrophil defect leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015979 MONDO:0020573 False hereditary predisposition to infections inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015985 MONDO:0018230 False bone dysplasia, Azouz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015987 MONDO:0002254 False scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015987 MONDO:0017705 False scimitar syndrome congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015988 MONDO:0002473 False multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015987 MONDO:0002254 False scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015987 MONDO:0017705 False scimitar syndrome congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015988 MONDO:0002473 False multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015988 MONDO:0021147 False multicystic dysplastic kidney disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015994 MONDO:0020120 False muscular dystrophy-white matter spongiosis syndrome skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015997 MONDO:0001176 False ectopia lentis-chorioretinal dystrophy-myopia syndrome lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015997 MONDO:0019118 False ectopia lentis-chorioretinal dystrophy-myopia syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015999 MONDO:0003847 False primary pigmented nodular adrenocortical disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015997 MONDO:0019118 False ectopia lentis-chorioretinal dystrophy-myopia syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015999 MONDO:0003847 False primary pigmented nodular adrenocortical disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016000 MONDO:0007796 False familial isolated hypoparathyroidism due to impaired PTH secretion hypoparathyroidism, familial isolated 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016001 MONDO:0005071 False 2-hydroxyglutaric aciduria nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016002 MONDO:0005328 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016002 MONDO:0023603 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016001 MONDO:0005071 False 2-hydroxyglutaric aciduria nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016002 MONDO:0005328 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016002 MONDO:0023603 False Ehlers-Danlos syndrome, kyphoscoliotic type 1 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016003 MONDO:0006922 False ehrlichiosis Anaplasmataceae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016003 MONDO:0025294 False ehrlichiosis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0015327 False Cockayne syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016006 MONDO:0021190 False Cockayne syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016008 MONDO:0002254 False fetal hydantoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016010 MONDO:0002254 False vitamin K-antagonist embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016011 MONDO:0002254 False fetal alcohol syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016012 MONDO:0005039 False diethylstilbestrol syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016006 MONDO:0015327 False Cockayne syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016006 MONDO:0021190 False Cockayne syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016008 MONDO:0002254 False fetal hydantoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016010 MONDO:0002254 False vitamin K-antagonist embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016011 MONDO:0002254 False fetal alcohol syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016012 MONDO:0005039 False diethylstilbestrol syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016016 MONDO:0700092 False toluene embryopathy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016017 MONDO:0002254 False methimazole embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016018 MONDO:0021147 False diabetic embryopathy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0020068 False Rasmussen subacute encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0100028 False Rasmussen subacute encephalitis immune epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0015653 False early myoclonic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016022 MONDO:0015653 False early myoclonic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016022 MONDO:0100022 False early myoclonic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0002254 False myoclonic-astatic epilepsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0015653 False myoclonic-astatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0019216 False myoclonic-astatic epilepsy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016027 MONDO:0015653 False benign neonatal seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016028 MONDO:0003847 False erythromelalgia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016028 MONDO:0005294 False erythromelalgia peripheral vascular disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016030 MONDO:0002254 False Evans syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016025 MONDO:0015653 False myoclonic-astatic epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016025 MONDO:0019216 False myoclonic-astatic epilepsy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016027 MONDO:0015653 False benign neonatal seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016028 MONDO:0003847 False erythromelalgia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016028 MONDO:0005294 False erythromelalgia peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016030 MONDO:0002254 False Evans syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016040 MONDO:0001292 False harlequin syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016041 MONDO:0021147 False congenital microgastria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016043 MONDO:0004747 False isolated cleft lip cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016043 MONDO:0021147 False isolated cleft lip disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016044 MONDO:0000358 False cleft lip/palate orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016046 MONDO:0003847 False familial clubfoot with or without associated lower limb anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016047 MONDO:0021166 False endophthalmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016047 MONDO:0043885 False endophthalmitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016047 MONDO:0021166 False endophthalmitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016047 MONDO:0043885 False endophthalmitis eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016048 MONDO:0017626 False isolated autosomal dominant hypomagnesemia, Glaudemans type familial primary hypomagnesemia with normocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016051 MONDO:0002254 False cleft lip-retinopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016059 MONDO:0002254 False cleft lip/palate-deafness-sacral lipoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016060 MONDO:0002567 False laryngotracheoesophageal cleft tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016060 MONDO:0003749 False laryngotracheoesophageal cleft esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016060 MONDO:0002567 False laryngotracheoesophageal cleft tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016060 MONDO:0003749 False laryngotracheoesophageal cleft esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016061 MONDO:0012350 False immunodeficiency with factor H anomaly complement factor H deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016063 MONDO:0000426 False Cowden disease autosomal dominant disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016063 MONDO:0000426 False Cowden disease autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016063 MONDO:0100118 False Cowden disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016067 MONDO:0002254 False Crandall syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016070 MONDO:0003847 False hereditary gingival fibromatosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016070 MONDO:0003847 False hereditary gingival fibromatosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016070 MONDO:0021147 False hereditary gingival fibromatosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016071 MONDO:0002300 False juvenile hyaline fibromatosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016071 MONDO:0006424 False juvenile hyaline fibromatosis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016071 MONDO:0019060 False juvenile hyaline fibromatosis bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016071 MONDO:0023603 False juvenile hyaline fibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016071 MONDO:0002300 False juvenile hyaline fibromatosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016071 MONDO:0006424 False juvenile hyaline fibromatosis soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016071 MONDO:0019060 False juvenile hyaline fibromatosis bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016071 MONDO:0023603 False juvenile hyaline fibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016071 MONDO:0100118 False juvenile hyaline fibromatosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016073 MONDO:0002254 False syndromic microphthalmia syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016073 MONDO:0003847 False syndromic microphthalmia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016079 MONDO:0007403 False sporadic Creutzfeldt-Jakob disease inherited Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016073 MONDO:0002254 False syndromic microphthalmia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016073 MONDO:0003847 False syndromic microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016079 MONDO:0007403 False sporadic Creutzfeldt-Jakob disease inherited Creutzfeldt-Jakob disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016080 MONDO:0005087 False congenital bronchobiliary fistula respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016080 MONDO:0021147 False congenital bronchobiliary fistula disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016083 MONDO:0019296 False FLOTCH syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016085 MONDO:0002254 False Cole-Carpenter syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016083 MONDO:0019296 False FLOTCH syndrome subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016085 MONDO:0002254 False Cole-Carpenter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016087 MONDO:0003847 False progressive non-infectious anterior vertebral fusion hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016092 MONDO:0000646 False serous or mucinous cystadenoma of childhood ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016094 MONDO:0001402 False vaginal germ cell malignant tumor vaginal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27543,7 +27567,7 @@ MONDO:0016146 MONDO:0003939 False caveolinopathy muscle tissue disorder UNSUPPOR MONDO:0016151 MONDO:0003847 False qualitative or quantitative defects of perlecan hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016153 MONDO:0003847 False qualitative or quantitative defects of TRIM32 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016155 MONDO:0002320 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016155 MONDO:0017741 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016155 MONDO:0017741 False qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan disorder of protein O-glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016158 MONDO:0005560 False narcolepsy-cataplexy syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016160 MONDO:0020119 False X-linked intellectual disability-epilepsy syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016161 MONDO:0020022 False cerebral gigantism-jaw cysts syndrome central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27552,9 +27576,9 @@ MONDO:0016165 MONDO:0001220 False hereditary hypoparathyroidism hypoparathyroidi MONDO:0016165 MONDO:0003847 False hereditary hypoparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016166 MONDO:0001741 False hereditary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016166 MONDO:0003847 False hereditary hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016167 MONDO:0001834 False optic pathway glioma visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016167 MONDO:0021211 False optic pathway glioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016168 MONDO:0005046 False cryopyrin-associated periodic syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016167 MONDO:0001834 False optic pathway glioma visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016167 MONDO:0021211 False optic pathway glioma brain neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016168 MONDO:0005046 False cryopyrin-associated periodic syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016171 MONDO:0006915 False polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies polyradiculoneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016175 MONDO:0020159 False cutis laxa congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016187 MONDO:0003847 False qualitative or quantitative defects of desmin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27567,34 +27591,34 @@ MONDO:0016203 MONDO:0005439 False hypercholesterolemia due to cholesterol 7alpha MONDO:0016204 MONDO:0005154 False idiopathic copper-associated cirrhosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016204 MONDO:0700007 False idiopathic copper-associated cirrhosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016205 MONDO:0005328 False IRVAN syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016206 MONDO:0017258 False idiopathic uveal effusion syndrome idiopathic panuveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016206 MONDO:0017258 False idiopathic uveal effusion syndrome idiopathic panuveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016208 MONDO:0005020 False solitary rectal ulcer syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016210 MONDO:0700092 False alternating hemiplegia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016211 MONDO:0040679 False non-papillary transitional cell carcinoma of the bladder urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016215 MONDO:0003847 False spastic quadriplegic cerebral palsy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016215 MONDO:0003847 False spastic quadriplegic cerebral palsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016217 MONDO:0024623 False mal de Debarquement otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016218 MONDO:0002254 False Guillain-Barre syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016218 MONDO:0002254 False Guillain-Barre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016220 MONDO:0002257 False congenital temporomandibular joint ankylosis ankylosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016220 MONDO:0005473 False congenital temporomandibular joint ankylosis temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016222 MONDO:0020664 False spindle cell hemangioma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016222 MONDO:0020664 False spindle cell hemangioma spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016223 MONDO:0006500 False infantile hemangioma of rare localization hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016225 MONDO:0005071 False specific learning disability nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016231 MONDO:0005385 False capillary malformation vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016237 MONDO:0024296 False diffuse neonatal hemangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016241 MONDO:0100500 False alternating hemiplegia of childhood Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016244 MONDO:0002254 False atypical hemolytic-uremic syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016244 MONDO:0002254 False atypical hemolytic-uremic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016248 MONDO:0003847 False familial ovarian cancer hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016248 MONDO:0008170 False familial ovarian cancer ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016249 MONDO:0016248 False hereditary site-specific ovarian cancer syndrome familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016256 MONDO:0002254 False Hennekam syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016256 MONDO:0019313 False Hennekam syndrome lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016260 MONDO:0004526 False uterine corpus rhabdomyosarcoma mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016262 MONDO:0004526 False leiomyosarcoma of the corpus uteri mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016248 MONDO:0008170 False familial ovarian cancer ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016249 MONDO:0016248 False hereditary site-specific ovarian cancer syndrome familial ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016256 MONDO:0002254 False Hennekam syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016256 MONDO:0019313 False Hennekam syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0016260 MONDO:0004526 False uterine corpus rhabdomyosarcoma mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016262 MONDO:0004526 False leiomyosarcoma of the corpus uteri mixed endometrial stromal and smooth muscle tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016263 MONDO:0005462 False primitive neuroectodermal tumor of the corpus uteri primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016263 MONDO:0021254 False primitive neuroectodermal tumor of the corpus uteri corpus uteri neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016264 MONDO:0000569 False autoimmune hepatitis autoimmune disorder of endocrine system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016264 MONDO:0000586 False autoimmune hepatitis autoimmune disorder of exocrine system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016264 MONDO:0002251 False autoimmune hepatitis hepatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016264 MONDO:0000569 False autoimmune hepatitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016264 MONDO:0000586 False autoimmune hepatitis autoimmune disorder of exocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016264 MONDO:0002251 False autoimmune hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016266 MONDO:0005096 False squamous cell carcinoma of the corpus uteri squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016266 MONDO:0005213 False squamous cell carcinoma of the corpus uteri uterine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016266 MONDO:0006003 False squamous cell carcinoma of the corpus uteri uterine corpus cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27623,115 +27647,115 @@ MONDO:0016285 MONDO:0005131 False papillary carcinoma of the cervix uteri cervic MONDO:0016285 MONDO:0006509 False papillary carcinoma of the cervix uteri papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016289 MONDO:0002974 False malignant germ cell tumor of cervix uteri cervical cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016289 MONDO:0006290 False malignant germ cell tumor of cervix uteri malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016290 MONDO:0020066 False Hernández-Aguirre Negrete syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016290 MONDO:0020066 False Hernández-Aguirre Negrete syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016292 MONDO:0002254 False nodular neuronal heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016294 MONDO:0002254 False Hirschsprung disease-type D brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016294 MONDO:0021189 False Hirschsprung disease-type D brachydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016296 MONDO:0003847 False holoprosencephaly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016296 MONDO:0003847 False holoprosencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016297 MONDO:0019497 False prelingual non-syndromic genetic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016298 MONDO:0019497 False postlingual non-syndromic genetic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016312 MONDO:0800390 False 5-fluorouracil poisoning chemotherapy-induced toxicity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016318 MONDO:0020067 False progressive multifocal leukoencephalopathy infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016318 MONDO:0020067 False progressive multifocal leukoencephalopathy infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016319 MONDO:0002320 False congenital insensitivity to pain with hyperhidrosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016322 MONDO:0005043 False neuroendocrine cell hyperplasia of infancy hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016323 MONDO:0012580 False chronic respiratory distress with surfactant metabolism deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016322 MONDO:0005043 False neuroendocrine cell hyperplasia of infancy hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016323 MONDO:0012580 False chronic respiratory distress with surfactant metabolism deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016333 MONDO:0005217 False familial dilated cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016340 MONDO:0005217 False familial restrictive cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016342 MONDO:0005217 False familial isolated arrhythmogenic right ventricular dysplasia familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016346 MONDO:0002254 False hydrocephalus-obesity-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0001150 False congenital hydrocephalus hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0016349 MONDO:0002320 False congenital hydrocephalus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016349 MONDO:0003847 False congenital hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0001150 False congenital hydrocephalus hydrocephalus UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0002320 False congenital hydrocephalus congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016349 MONDO:0003847 False congenital hydrocephalus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016350 MONDO:0002254 False hydrocephalus-blue sclerae-nephropathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016350 MONDO:0016349 False hydrocephalus-blue sclerae-nephropathy syndrome congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016350 MONDO:0016349 False hydrocephalus-blue sclerae-nephropathy syndrome congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016351 MONDO:0005046 False anti-HLA hyperimmunization immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016353 MONDO:0000426 False palmoplantar keratoderma-spastic paralysis syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016353 MONDO:0007853 False palmoplantar keratoderma-spastic paralysis syndrome palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016354 MONDO:0002254 False xeroderma pigmentosum-Cockayne syndrome complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016357 MONDO:0019702 False dysplastic cortical hyperostosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016353 MONDO:0007853 False palmoplantar keratoderma-spastic paralysis syndrome palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016354 MONDO:0002254 False xeroderma pigmentosum-Cockayne syndrome complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016357 MONDO:0019702 False dysplastic cortical hyperostosis neonatal osteosclerotic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016362 MONDO:0021057 False attenuated familial adenomatous polyposis classic or attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016364 MONDO:0002254 False Joubert syndrome with ocular defect syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016364 MONDO:0024458 False Joubert syndrome with ocular defect disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016365 MONDO:0010837 False familial primary hyperparathyroidism primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016365 MONDO:0021360 False familial primary hyperparathyroidism tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016366 MONDO:0009861 False maternal phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016367 MONDO:0002406 False dermatomyositis dermatitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016367 MONDO:0005554 False dermatomyositis rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016367 MONDO:0019127 False dermatomyositis polymyositis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016369 MONDO:0005328 False Rothmund-Thomson syndrome type 2 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016366 MONDO:0009861 False maternal phenylketonuria phenylketonuria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016367 MONDO:0002406 False dermatomyositis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016367 MONDO:0005554 False dermatomyositis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016367 MONDO:0019127 False dermatomyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016369 MONDO:0005328 False Rothmund-Thomson syndrome type 2 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016370 MONDO:0005559 False Marchiafava-Bignami disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016373 MONDO:0005395 False isolated facial myokymia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016374 MONDO:0003569 False cranial neuralgia cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016374 MONDO:0021667 False cranial neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016376 MONDO:0021154 False confetti-like macular atrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016376 MONDO:0021154 False confetti-like macular atrophy dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016377 MONDO:0015159 False Pitt-Hopkins-like syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016378 MONDO:0021147 False maternal hyperthermia induced birth defects disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016379 MONDO:0005093 False erosive pustular dermatosis of the scalp skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016385 MONDO:0002254 False hypogonadism-mitral valve prolapse-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016386 MONDO:0002254 False hypogonadotropic hypogonadism-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016390 MONDO:0019052 False familial hypoparathyroidism inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016392 MONDO:0005071 False cerebellar hypoplasia-tapetoretinal degeneration syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016390 MONDO:0019052 False familial hypoparathyroidism inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016392 MONDO:0005071 False cerebellar hypoplasia-tapetoretinal degeneration syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016393 MONDO:0011323 False hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome arhinia, choanal atresia, and microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016395 MONDO:0019118 False foveal hypoplasia-presenile cataract syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0015327 False pontocerebellar hypoplasia type 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016396 MONDO:0019502 False pontocerebellar hypoplasia type 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016395 MONDO:0019118 False foveal hypoplasia-presenile cataract syndrome inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0015327 False pontocerebellar hypoplasia type 1 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016396 MONDO:0019502 False pontocerebellar hypoplasia type 1 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016414 MONDO:0002254 False hypotrichosis-intellectual disability, Lopes type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0003150 False diphallia male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016416 MONDO:0021147 False diphallia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016417 MONDO:0002254 False congenital ichthyosis-microcephalus-tetraplegia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016419 MONDO:0003847 False hereditary breast carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016419 MONDO:0003847 False hereditary breast carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016420 MONDO:0020242 False familial flecked retinopathy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016421 MONDO:0029000 False toxic oil syndrome poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016425 MONDO:0002254 False Hughes-Stovin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016429 MONDO:0005301 False Marburg acute multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016429 MONDO:0020683 False Marburg acute multiple sclerosis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016431 MONDO:0011674 False autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease dominant intermediate B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016431 MONDO:0011674 False autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease dominant intermediate B UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016432 MONDO:0002254 False heart-hand syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016432 MONDO:0003847 False heart-hand syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016437 MONDO:0021154 False late-onset focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016438 MONDO:0021154 False linear focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016439 MONDO:0021154 False elastoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016437 MONDO:0021154 False late-onset focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016438 MONDO:0021154 False linear focal dermal elastosis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016439 MONDO:0021154 False elastoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016441 MONDO:0024308 False acquired pseudoxanthoma elasticum pseudoxanthoma elasticum (inherited or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016442 MONDO:0021154 False elastoma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016443 MONDO:0021154 False papular elastorrhexis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016444 MONDO:0021154 False primary anetoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016445 MONDO:0021154 False familial anetoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016446 MONDO:0016175 False acquired cutis laxa cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016447 MONDO:0021154 False white fibrous papulosis of the neck dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016442 MONDO:0021154 False elastoma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016443 MONDO:0021154 False papular elastorrhexis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016444 MONDO:0021154 False primary anetoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016445 MONDO:0021154 False familial anetoderma dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016446 MONDO:0016175 False acquired cutis laxa cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016447 MONDO:0021154 False white fibrous papulosis of the neck dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016448 MONDO:0005093 False pseudoxanthoma elasticum-like papillary dermal elastolysis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016449 MONDO:0021154 False mid-dermal elastolysis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016449 MONDO:0021154 False mid-dermal elastolysis dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016451 MONDO:0018044 False idiopathic hypersomnia with long sleep time idiopathic hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016452 MONDO:0018044 False idiopathic hypersomnia without long sleep time idiopathic hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016454 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016454 MONDO:0018993 False Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016455 MONDO:0005108 False virus-associated trichodysplasia spinulosa viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016455 MONDO:0024294 False virus-associated trichodysplasia spinulosa skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016457 MONDO:0002254 False ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016460 MONDO:0005267 False polyvalvular heart disease syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016460 MONDO:0015160 False polyvalvular heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016463 MONDO:0002254 False syndromic agammaglobulinemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016463 MONDO:0002254 False syndromic agammaglobulinemia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016464 MONDO:0001933 False insulin-resistance syndrome type B endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016467 MONDO:0002254 False isotretinoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016467 MONDO:0009473 False isotretinoin syndrome isotretinoin-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016467 MONDO:0002254 False isotretinoin syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016467 MONDO:0009473 False isotretinoin syndrome isotretinoin-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016469 MONDO:0005385 False Ehlers-Danlos syndrome, vascular-like type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016469 MONDO:0020066 False Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016470 MONDO:0020066 False Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016470 MONDO:0020066 False Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0016472 MONDO:0005943 False dracunculiasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016473 MONDO:0002728 False familial rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016473 MONDO:0002728 False familial rhabdoid tumor rhabdoid tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016482 MONDO:0700018 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016482 MONDO:0700086 False silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016483 MONDO:0003847 False intracranial berry aneurysm hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016483 MONDO:0003847 False intracranial berry aneurysm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016486 MONDO:0013517 False beta-thalassemia major beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016487 MONDO:0013517 False beta-thalassemia intermedia beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016498 MONDO:0020683 False acute pure sensory neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016499 MONDO:0020683 False acute pandysautonomia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016500 MONDO:0020683 False acute sensory ataxic neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016504 MONDO:0001422 False primary unilateral adrenal hyperplasia primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016505 MONDO:0001422 False aldosterone-producing adrenal cortex adenoma primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016505 MONDO:0001422 False aldosterone-producing adrenal cortex adenoma primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016506 MONDO:0001422 False ectopic aldosterone-producing tumor primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016509 MONDO:0002254 False microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016510 MONDO:0021147 False epibulbar lipodermoid-preauricular appendage-polythelia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016511 MONDO:0005550 False infectious embryofetopathy infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016512 MONDO:0003847 False Kabuki syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016512 MONDO:0003847 False Kabuki syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016515 MONDO:0015160 False Kallmann syndrome-heart disease syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016516 MONDO:0800063 False Kenny-Caffey syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016521 MONDO:0002254 False muscular pseudohypertrophy-hypothyroidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27739,17 +27763,17 @@ MONDO:0016521 MONDO:0005151 False muscular pseudohypertrophy-hypothyroidism synd MONDO:0016522 MONDO:0002254 False Kousseff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016523 MONDO:0005087 False bronchogenic cyst respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016523 MONDO:0021147 False bronchogenic cyst disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016525 MONDO:0001422 False familial hyperaldosteronism primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016525 MONDO:0001422 False familial hyperaldosteronism primary aldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016525 MONDO:0003009 False familial hyperaldosteronism hyperaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016525 MONDO:0003847 False familial hyperaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016525 MONDO:0003847 False familial hyperaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016526 MONDO:0700043 False trisomy 9p syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016528 MONDO:0002254 False limb body wall complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016529 MONDO:0005240 False duplication of urethra kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016529 MONDO:0021147 False duplication of urethra disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016530 MONDO:0004382 False laryngocele laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016530 MONDO:0004382 False laryngocele laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016531 MONDO:0004335 False digestive duplication digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0002254 False Lennox-Gastaut syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016532 MONDO:0100062 False Lennox-Gastaut syndrome developmental and epileptic encephalopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016532 MONDO:0002254 False Lennox-Gastaut syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016532 MONDO:0100062 False Lennox-Gastaut syndrome developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016535 MONDO:0021147 False hypohidrotic ectodermal dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016540 MONDO:0009332 False congenital secondary polycythemia congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016541 MONDO:0002438 False acquired secondary polycythemia acquired polycythemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27757,14 +27781,14 @@ MONDO:0016542 MONDO:0005265 False immune dysregulation-inflammatory bowel diseas MONDO:0016542 MONDO:0005554 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016542 MONDO:0023603 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0006025 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016543 MONDO:0019189 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016543 MONDO:0019189 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016543 MONDO:0037871 False hyperphenylalaninemia due to tetrahydrobiopterin deficiency amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016545 MONDO:0006025 False leukoencephalopathy-palmoplantar keratoderma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016546 MONDO:0005395 False primary orthostatic tremor movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016548 MONDO:0002118 False megacystis-megaureter syndrome urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016554 MONDO:0005151 False neonatal iodine exposure endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016558 MONDO:0002320 False familial congenital mirror movements congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016558 MONDO:0003847 False familial congenital mirror movements hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016558 MONDO:0002320 False familial congenital mirror movements congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016558 MONDO:0003847 False familial congenital mirror movements hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016559 MONDO:0009633 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016560 MONDO:0015159 False ptosis-syndactyly-learning difficulties syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0002254 False Lowe-Kohn-Cohen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27773,78 +27797,78 @@ MONDO:0016571 MONDO:0002320 False macrocephaly-short stature-paraplegia syndrome MONDO:0016572 MONDO:0017094 False central bilateral macrogyria cerebral cortical dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0020683 False acute fatty liver of pregnancy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0024575 False acute fatty liver of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016575 MONDO:0005087 False primary ciliary dyskinesia respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016576 MONDO:0003847 False split hand-foot malformation hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016575 MONDO:0005087 False primary ciliary dyskinesia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016576 MONDO:0003847 False split hand-foot malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016577 MONDO:0021147 False biliary atresia with splenic malformation syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016580 MONDO:0005087 False congenital pulmonary airway malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016580 MONDO:0005087 False congenital pulmonary airway malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016580 MONDO:0021147 False congenital pulmonary airway malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016584 MONDO:0015327 False mandibuloacral dysplasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016584 MONDO:0015327 False mandibuloacral dysplasia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016588 MONDO:0029000 False infantile mercury poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016591 MONDO:0016593 False sporadic adult-onset ataxia of unknown etiology acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016591 MONDO:0016593 False sporadic adult-onset ataxia of unknown etiology acquired ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016593 MONDO:0100308 False acquired ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016594 MONDO:0005559 False superficial siderosis neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016596 MONDO:0015905 False hyperphosphatasia-intellectual disability syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016596 MONDO:0015905 False hyperphosphatasia-intellectual disability syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016600 MONDO:0020683 False acute neonatal citrullinemia type I acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016602 MONDO:0800153 False citrin deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016604 MONDO:0003847 False dysraphism-cleft lip/palate-limb reduction defects syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016608 MONDO:0005560 False megalencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016608 MONDO:0021147 False megalencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016611 MONDO:0044335 False lipoblastoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016611 MONDO:0044335 False lipoblastoma benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016612 MONDO:0100310 False X-linked cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016613 MONDO:0021056 False APC-related attenuated familial adenomatous polyposis familial adenomatous polyposis 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016619 MONDO:0006025 False autosomal recessive hypohidrotic ectodermal dysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016620 MONDO:0003847 False primary hypertrophic osteoarthropathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016621 MONDO:0007739 False juvenile Huntington disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016620 MONDO:0003847 False primary hypertrophic osteoarthropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016621 MONDO:0007739 False juvenile Huntington disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016622 MONDO:0002254 False Melhem-Fahl syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016622 MONDO:0003847 False Melhem-Fahl syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016624 MONDO:0001639 False inherited deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016624 MONDO:0003847 False inherited deficiency anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016625 MONDO:0001639 False acquired deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016630 MONDO:0100241 False isolated delta-storage pool disease inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016638 MONDO:0008737 False familial hypodysfibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016638 MONDO:0008737 False familial hypodysfibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016639 MONDO:0002254 False lower limb deficiency-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016641 MONDO:0003847 False limb transversal defect-cardiac anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016643 MONDO:0003847 False frontonasal dysplasia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016643 MONDO:0003847 False frontonasal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016649 MONDO:0700247 False Warburg micro syndrome RAB18 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016650 MONDO:0700008 False paternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016650 MONDO:0700086 False paternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700008 False maternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700086 False maternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016654 MONDO:0700012 False ring chromosome 5 chromosome 5 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016654 MONDO:0700091 False ring chromosome 5 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016654 MONDO:0700091 False ring chromosome 5 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016658 MONDO:0002254 False 8p23.1 microdeletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016660 MONDO:0100500 False autosomal recessive primary microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016662 MONDO:0700007 False idiopathic recurrent pericarditis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016663 MONDO:0003900 False overlapping connective tissue disease connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016663 MONDO:0007179 False overlapping connective tissue disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016666 MONDO:0005554 False unexplained long-lasting fever/inflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016668 MONDO:0002254 False sickle cell-beta-thalassemia disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016668 MONDO:0002254 False sickle cell-beta-thalassemia disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016669 MONDO:0002254 False sickle cell-hemoglobin c disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016669 MONDO:0011382 False sickle cell-hemoglobin c disease syndrome sickle cell anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016669 MONDO:0011382 False sickle cell-hemoglobin c disease syndrome sickle cell anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016670 MONDO:0002254 False sickle cell-hemoglobin d disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016671 MONDO:0002254 False sickle cell-hemoglobin E disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016672 MONDO:0002254 False hereditary persistence of fetal hemoglobin-sickle cell disease syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016673 MONDO:0009180 False localized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa, non-Herlitz type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016676 MONDO:0008691 False recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome zinc, elevated plasma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016681 MONDO:0002501 False gliosarcoma brain glioblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016682 MONDO:0002501 False giant cell glioblastoma brain glioblastoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016683 MONDO:0005499 False gliomatosis cerebri brain glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016681 MONDO:0002501 False gliosarcoma brain glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016682 MONDO:0002501 False giant cell glioblastoma brain glioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016683 MONDO:0005499 False gliomatosis cerebri brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016685 MONDO:0019781 False low-grade astrocytoma astrocytoma (excluding glioblastoma) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016685 MONDO:0021638 False low-grade astrocytoma low grade astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016697 MONDO:0016698 False low grade ependymoma ependymoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016703 MONDO:0016702 False anaplastic oligoastrocytoma oligoastrocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016706 MONDO:0002786 False chordoid glioma of the third ventricle diencephalic cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016706 MONDO:0005499 False chordoid glioma of the third ventricle brain glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016706 MONDO:0021639 False chordoid glioma of the third ventricle grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016715 MONDO:0016713 False ependymoblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016734 MONDO:0016733 False anaplastic ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016703 MONDO:0016702 False anaplastic oligoastrocytoma oligoastrocytoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016706 MONDO:0002786 False chordoid glioma of the third ventricle diencephalic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016706 MONDO:0005499 False chordoid glioma of the third ventricle brain glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016706 MONDO:0021639 False chordoid glioma of the third ventricle grade II glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016715 MONDO:0016713 False ependymoblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016734 MONDO:0016733 False anaplastic ganglioglioma ganglioglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016742 MONDO:0000524 False mixed germ cell tumor of central nervous system mixed extragonadal germ cell cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016748 MONDO:0000648 False hemangioblastoma nervous system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016748 MONDO:0002407 False hemangioblastoma capillary hemangioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016748 MONDO:0043218 False hemangioblastoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016748 MONDO:0000648 False hemangioblastoma nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016748 MONDO:0002407 False hemangioblastoma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016748 MONDO:0043218 False hemangioblastoma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016749 MONDO:0021248 False tumor of cranial and spinal nerves nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016751 MONDO:0019404 False malignant perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016751 MONDO:0100342 False malignant perineurioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016751 MONDO:0019404 False malignant perineurioma perineurioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016751 MONDO:0100342 False malignant perineurioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016758 MONDO:0002254 False microcephaly-brain defect-spasticity-hypernatremia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016760 MONDO:0002254 False microcephaly-microcornea syndrome, Seemanova type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016760 MONDO:0024458 False microcephaly-microcornea syndrome, Seemanova type disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27855,29 +27879,29 @@ MONDO:0016769 MONDO:0006572 False linear lichen planus lichen planus UNSUPPORTED MONDO:0016770 MONDO:0006572 False actinic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016771 MONDO:0006572 False annular atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016772 MONDO:0006572 False annular lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016773 MONDO:0006572 False atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016773 MONDO:0006572 False atrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016774 MONDO:0006572 False lichen planus pigmentosus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016775 MONDO:0006572 False lichen planus pemphigoides lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016778 MONDO:0043544 False iatrogenic botulism nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016778 MONDO:0043544 False iatrogenic botulism nosocomial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016779 MONDO:0100499 False multiple congenital anomalies due to 14q32.2 maternally expressed gene defect multiple congenital anomalies due to 14q32.2 imprinting defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016789 MONDO:0019189 False pyruvate metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016789 MONDO:0019189 False pyruvate metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016789 MONDO:0045022 False pyruvate metabolism disorder disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016807 MONDO:0044970 False pure mitochondrial myopathy mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016809 MONDO:0011835 False spinocerebellar ataxia with epilepsy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016809 MONDO:0011835 False spinocerebellar ataxia with epilepsy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016810 MONDO:0006025 False autosomal recessive progressive external ophthalmoplegia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016811 MONDO:0007415 False renal tubulopathy-encephalopathy-liver failure syndrome mitochondrial complex III deficiency nuclear type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016812 MONDO:0005066 False dopa-responsive dystonia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016812 MONDO:0005071 False dopa-responsive dystonia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016814 MONDO:0009723 False maternally-inherited Leigh syndrome Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016817 MONDO:0006025 False Meier-Gorlin syndrome autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016812 MONDO:0005066 False dopa-responsive dystonia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016812 MONDO:0005071 False dopa-responsive dystonia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016814 MONDO:0009723 False maternally-inherited Leigh syndrome Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016817 MONDO:0006025 False Meier-Gorlin syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016817 MONDO:0015160 False Meier-Gorlin syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016818 MONDO:0002254 False Mikati-Najjar-Sahli syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016820 MONDO:0003847 False Moyamoya disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016820 MONDO:0003847 False Moyamoya disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016821 MONDO:0002254 False shoulder and girdle defects-familial intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016822 MONDO:0005554 False myalgia-eosinophilia syndrome associated with tryptophan rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016823 MONDO:0019296 False mycetoma subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016824 MONDO:0023603 False infantile myofibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016824 MONDO:0044335 False infantile myofibromatosis benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016823 MONDO:0019296 False mycetoma subcutaneous tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016824 MONDO:0023603 False infantile myofibromatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016824 MONDO:0044335 False infantile myofibromatosis benign soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016826 MONDO:0002012 False methylmalonic aciduria and homocystinuria methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016826 MONDO:0004737 False methylmalonic aciduria and homocystinuria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016827 MONDO:0002254 False myopathy-growth delay-intellectual disability-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27885,8 +27909,8 @@ MONDO:0016828 MONDO:0006025 False autosomal recessive sideroblastic anemia autos MONDO:0016829 MONDO:0020754 False familial visceral myopathy visceral myopathy 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016829 MONDO:0021189 False familial visceral myopathy intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016831 MONDO:0005073 False linear verrucous nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016832 MONDO:0012342 False distal 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016846 MONDO:0012020 False distal 22q11.2 microduplication syndrome chromosome 22q11.2 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016832 MONDO:0012342 False distal 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016846 MONDO:0012020 False distal 22q11.2 microduplication syndrome chromosome 22q11.2 microduplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016848 MONDO:0043494 False juvenile temporal arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016851 MONDO:0700027 False maternal uniparental disomy of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016851 MONDO:0700086 False maternal uniparental disomy of chromosome X uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27973,16 +27997,16 @@ MONDO:0016938 MONDO:0700025 False partial trisomy of chromosome 20 chromosome 20 MONDO:0016964 MONDO:0000762 False partial duplication of the long arm of chromosome 14 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016965 MONDO:0000762 False partial duplication of the long arm of chromosome 15 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016972 MONDO:0000762 False partial duplication of the long arm of chromosome 22 syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016974 MONDO:0004805 False thymoma type B leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016974 MONDO:0004805 False thymoma type B leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016980 MONDO:0020119 False ATR-X-related syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016983 MONDO:0015231 False Bartter syndrome with hypocalcemia Bartter syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016984 MONDO:0005073 False nevus of Ota melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016985 MONDO:0005073 False nevus of Ito melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016984 MONDO:0005073 False nevus of Ota melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016985 MONDO:0005073 False nevus of Ito melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016986 MONDO:0006499 False congenital smooth muscle hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016987 MONDO:0005395 False neuroacanthocytosis movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016987 MONDO:0005395 False neuroacanthocytosis movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016990 MONDO:0024307 False acquired prothrombin deficiency prothrombin deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016991 MONDO:0020067 False acute necrotizing encephalopathy of childhood infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016993 MONDO:0010033 False generalized peeling skin syndrome type C generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016993 MONDO:0010033 False generalized peeling skin syndrome type C generalized peeling skin syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016994 MONDO:0002254 False microcephalic osteodysplastic primordial dwarfism types I and III syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016994 MONDO:0800063 False microcephalic osteodysplastic primordial dwarfism types I and III primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016996 MONDO:0005020 False NK-cell enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27991,38 +28015,38 @@ MONDO:0017003 MONDO:0700027 False partial deletion of chromosome X chromosome X MONDO:0017008 MONDO:0000762 False partial duplication of chromosome X syndrome caused by partial chromosomal duplication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017008 MONDO:0700027 False partial duplication of chromosome X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017029 MONDO:0017026 False Langerhans cell histiocytosis specific to adulthood interstitial lung disease specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017029 MONDO:0021117 False Langerhans cell histiocytosis specific to adulthood lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017029 MONDO:0021117 False Langerhans cell histiocytosis specific to adulthood lung neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0002254 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0003847 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017041 MONDO:0024458 False osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017043 MONDO:0003130 False congenital mesoblastic nephroma mesoblastic nephroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017045 MONDO:0015126 False neuroectodermal-endocrine syndrome polyendocrinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017045 MONDO:0015159 False neuroectodermal-endocrine syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017048 MONDO:0018330 False pseudomyxoma peritonei mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017048 MONDO:0018330 False pseudomyxoma peritonei mucinous adenocarcinoma of the appendix UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017058 MONDO:0006025 False autosomal recessive intermediate Charcot-Marie-Tooth disease autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017063 MONDO:0017062 False total spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017064 MONDO:0017062 False thoracolumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017065 MONDO:0017062 False lumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017066 MONDO:0017062 False cervical spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017067 MONDO:0017062 False cervicothoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017068 MONDO:0017062 False upper thoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017070 MONDO:0019773 False total spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017071 MONDO:0019773 False thoracolumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017072 MONDO:0019773 False lumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017073 MONDO:0019773 False cervical spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017074 MONDO:0019773 False cervicothoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017075 MONDO:0019773 False upper thoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017078 MONDO:0002320 False cephalocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017063 MONDO:0017062 False total spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017064 MONDO:0017062 False thoracolumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017065 MONDO:0017062 False lumbosacral spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017066 MONDO:0017062 False cervical spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017067 MONDO:0017062 False cervicothoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017068 MONDO:0017062 False upper thoracic spina bifida aperta spina bifida aperta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017070 MONDO:0019773 False total spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017071 MONDO:0019773 False thoracolumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017072 MONDO:0019773 False lumbosacral spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017073 MONDO:0019773 False cervical spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017074 MONDO:0019773 False cervicothoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017075 MONDO:0019773 False upper thoracic spina bifida cystica myelomeningocele UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017078 MONDO:0002320 False cephalocele congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017078 MONDO:0021147 False cephalocele disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0001147 False meningoencephalocele meningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017079 MONDO:0005560 False meningoencephalocele brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017084 MONDO:0018075 False leptomyelolipoma neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017094 MONDO:0005560 False cerebral cortical dysplasia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0001147 False meningoencephalocele meningocele UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017079 MONDO:0005560 False meningoencephalocele brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017084 MONDO:0018075 False leptomyelolipoma neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017094 MONDO:0005560 False cerebral cortical dysplasia brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017094 MONDO:0021147 False cerebral cortical dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017103 MONDO:0005560 False encephaloclastic disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0008823 False arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis multiplex congenita 2, neurogenic type UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017123 MONDO:0015327 False arthrogryposis-renal dysfunction-cholestasis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017124 MONDO:0005113 False noma bacterial infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017123 MONDO:0008823 False arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis multiplex congenita 2, neurogenic type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0017123 MONDO:0015327 False arthrogryposis-renal dysfunction-cholestasis syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017124 MONDO:0005113 False noma bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017126 MONDO:0002254 False oculo-skeletal-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017135 MONDO:0002254 False olivopontocerebellar atrophy-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017137 MONDO:0005943 False onchocerciasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28031,7 +28055,7 @@ MONDO:0017139 MONDO:0003847 False oromandibular-limb hypogenesis syndrome heredi MONDO:0017140 MONDO:0021147 False L1 syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017145 MONDO:0002280 False beta-thalassemia and related diseases anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017147 MONDO:0700007 False idiopathic pulmonary arterial hypertension idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017148 MONDO:0003847 False heritable pulmonary arterial hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017148 MONDO:0003847 False heritable pulmonary arterial hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017157 MONDO:0005149 False pulmonary hypertension owing to lung disease and/or hypoxia pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017160 MONDO:0005395 False behavioral variant of frontotemporal dementia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017161 MONDO:0005395 False frontotemporal dementia with motor neuron disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28042,11 +28066,11 @@ MONDO:0017167 MONDO:0005586 False malignant epithelial tumor of salivary glands MONDO:0017167 MONDO:0021223 False malignant epithelial tumor of salivary glands digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017168 MONDO:0005586 False benign epithelial tumor of salivary glands head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017168 MONDO:0021223 False benign epithelial tumor of salivary glands digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017169 MONDO:0015356 False multiple endocrine neoplasia hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017169 MONDO:0015356 False multiple endocrine neoplasia hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017169 MONDO:0021635 False multiple endocrine neoplasia neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017170 MONDO:0005071 False idiopathic recurrent stupor nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017170 MONDO:0700007 False idiopathic recurrent stupor idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017178 MONDO:0018383 False osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017178 MONDO:0018383 False osteochondritis dissecans osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017179 MONDO:0015588 False limbic encephalitis with caspr2 antibodies limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017181 MONDO:0021146 False hypnic headache headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017182 MONDO:0002177 False familial hyperinsulinism hyperinsulinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28058,7 +28082,7 @@ MONDO:0017193 MONDO:0015160 False symptomatic form of Coffin-Lowry syndrome in f MONDO:0017196 MONDO:0004884 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0005283 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0005287 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017196 MONDO:0019019 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017196 MONDO:0019019 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017196 MONDO:0043878 False osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017197 MONDO:0100118 False osteopathia striata-pigmentary dermopathy-white forelock syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017198 MONDO:0042973 False osteopetrosis familial osteosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28068,15 +28092,15 @@ MONDO:0017201 MONDO:0005328 False Spasmus nutans eye disorder UNSUPPORTED-MISSIN MONDO:0017202 MONDO:0020683 False acute endophthalmitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017204 MONDO:0005328 False toxic maculopathy due to antimalarial drugs eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017205 MONDO:0004034 False primary oculocerebral lymphoma eye lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017209 MONDO:0016047 False infectious posterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017210 MONDO:0016047 False infectious anterior uveitis endophthalmitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017211 MONDO:0016047 False infectious panuveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017209 MONDO:0016047 False infectious posterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017210 MONDO:0016047 False infectious anterior uveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017211 MONDO:0016047 False infectious panuveitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017213 MONDO:0002118 False postorgasmic illness syndrome urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017213 MONDO:0003150 False postorgasmic illness syndrome male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017214 MONDO:0002012 False vitamin B12-responsive methylmalonic acidemia methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0002254 False calciphylaxis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017215 MONDO:0005385 False calciphylaxis vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017219 MONDO:0016296 False microform holoprosencephaly holoprosencephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017215 MONDO:0002254 False calciphylaxis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017215 MONDO:0005385 False calciphylaxis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017219 MONDO:0016296 False microform holoprosencephaly holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017227 MONDO:0005003 False autoimmune pancreatitis type 1 chronic pancreatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017232 MONDO:0002254 False recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017233 MONDO:0003847 False familial Alzheimer-like prion disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28086,7 +28110,7 @@ MONDO:0017237 MONDO:0015358 False hereditary sensorimotor neuropathy with hypere MONDO:0017238 MONDO:0002280 False hemoglobinopathy Toms River anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017238 MONDO:0013511 False hemoglobinopathy Toms River cyanosis, transient neonatal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017239 MONDO:0007771 False familial progressive hyper- and hypopigmentation hyperpigmentation with or without hypopigmentation, familial progressive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017256 MONDO:0006651 False idiopathic anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017256 MONDO:0006651 False idiopathic anterior uveitis anterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017256 MONDO:0700007 False idiopathic anterior uveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017257 MONDO:0700007 False idiopathic posterior uveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017258 MONDO:0700007 False idiopathic panuveitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28095,19 +28119,19 @@ MONDO:0017269 MONDO:0002051 False X-linked ichthyosis syndrome integumentary sys MONDO:0017269 MONDO:0002254 False X-linked ichthyosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017277 MONDO:0000761 False partial deletion of chromosome 12 syndrome caused by partial chromosomal deletion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017277 MONDO:0700019 False partial deletion of chromosome 12 chromosome 12 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017278 MONDO:0002254 False autoimmune polyendocrinopathy syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017278 MONDO:0002254 False autoimmune polyendocrinopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017280 MONDO:0002051 False demodicidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017280 MONDO:0005135 False demodicidosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017281 MONDO:0002254 False renal caliceal diverticuli-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017285 MONDO:0003150 False penoscrotal transposition male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017285 MONDO:0003150 False penoscrotal transposition male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017285 MONDO:0021147 False penoscrotal transposition disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017286 MONDO:0007179 False tempi syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017286 MONDO:0007179 False tempi syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0005154 False familial intrahepatic cholestasis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017290 MONDO:0019052 False familial intrahepatic cholestasis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017290 MONDO:0019052 False familial intrahepatic cholestasis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017290 MONDO:0019072 False familial intrahepatic cholestasis intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017291 MONDO:0021146 False reversible cerebral vasoconstriction syndrome headache disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017295 MONDO:0019225 False glycerol kinase deficiency, juvenile form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017296 MONDO:0019225 False glycerol kinase deficiency, adult form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017295 MONDO:0019225 False glycerol kinase deficiency, juvenile form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017296 MONDO:0019225 False glycerol kinase deficiency, adult form disorder of gluconeogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017297 MONDO:0005071 False chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017298 MONDO:0005328 False acute zonal occult outer retinopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017298 MONDO:0020683 False acute zonal occult outer retinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28116,14 +28140,14 @@ MONDO:0017299 MONDO:0020683 False acute annular outer retinopathy acute disease MONDO:0017301 MONDO:0021147 False pericardial and diaphragmatic defect disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017304 MONDO:0024458 False ocular albinism disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0002254 False syndromic oculocutaneous albinism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017305 MONDO:0018134 False syndromic oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017305 MONDO:0018134 False syndromic oculocutaneous albinism disorder of melanin metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017305 MONDO:0100118 False syndromic oculocutaneous albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017306 MONDO:0037871 False disorder of phenylalanine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017307 MONDO:0037871 False disorder of tyrosine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017309 MONDO:0005385 False neonatal Marfan syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017309 MONDO:0007947 False neonatal Marfan syndrome Marfan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017309 MONDO:0007947 False neonatal Marfan syndrome Marfan syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017310 MONDO:0023603 False Marfan and Marfan-related disorder hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017314 MONDO:0005385 False Ehlers-Danlos syndrome, vascular type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017314 MONDO:0005385 False Ehlers-Danlos syndrome, vascular type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017316 MONDO:0002254 False short stature-deafness-neutrophil dysfunction-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0000648 False phakomatosis pigmentokeratotica nervous system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017317 MONDO:0005073 False phakomatosis pigmentokeratotica melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28133,14 +28157,14 @@ MONDO:0017318 MONDO:0005328 False phakomatosis pigmentovascularis eye disorder U MONDO:0017318 MONDO:0042983 False phakomatosis pigmentovascularis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017322 MONDO:0005151 False disorders of vitamin D metabolism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017322 MONDO:0005528 False disorders of vitamin D metabolism inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017323 MONDO:0005520 False hypocalcemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017326 MONDO:0005108 False infective dermatitis associated with HTLV-1 viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017323 MONDO:0005520 False hypocalcemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017326 MONDO:0005108 False infective dermatitis associated with HTLV-1 viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017326 MONDO:0024294 False infective dermatitis associated with HTLV-1 skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017329 MONDO:0003847 False familial vesicoureteral reflux hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017329 MONDO:0006007 False familial vesicoureteral reflux vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017330 MONDO:0024575 False malignancy diagnosed during pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017331 MONDO:0003847 False Pilotto syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017340 MONDO:0024623 False juvenile nasopharyngeal angiofibroma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017340 MONDO:0024623 False juvenile nasopharyngeal angiofibroma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017341 MONDO:0005070 False virus associated tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017341 MONDO:0021674 False virus associated tumor post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017350 MONDO:0037871 False inborn disorder of tryptophan metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28148,28 +28172,28 @@ MONDO:0017351 MONDO:0037938 False inborn disorder of lysine and hydroxylysine me MONDO:0017355 MONDO:0037871 False inborn disorder of proline metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017356 MONDO:0037871 False inborn disorder of ornithine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017357 MONDO:0005087 False transient hyperammonemia of the newborn respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017361 MONDO:0004656 False congenital rubella syndrome rubella UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0017363 MONDO:0017853 False idiopathic chronic eosinophilic pneumonia hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017364 MONDO:0004805 False POEMS syndrome leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017364 MONDO:0018215 False POEMS syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017365 MONDO:0008260 False hereditary acrokeratotic poikiloderma, Weary type Kindler syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017361 MONDO:0004656 False congenital rubella syndrome rubella UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017363 MONDO:0017853 False idiopathic chronic eosinophilic pneumonia hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017364 MONDO:0004805 False POEMS syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017364 MONDO:0018215 False POEMS syndrome paraneoplastic neurologic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017365 MONDO:0008260 False hereditary acrokeratotic poikiloderma, Weary type Kindler syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017366 MONDO:0005495 False hereditary pheochromocytoma-paraganglioma adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0002254 False congenital varicella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017372 MONDO:0005108 False congenital varicella syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017373 MONDO:0002565 False poliomyelitis myelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017373 MONDO:0003182 False poliomyelitis anterior horn disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0002254 False congenital varicella syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017372 MONDO:0005108 False congenital varicella syndrome viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017373 MONDO:0002565 False poliomyelitis myelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017373 MONDO:0003182 False poliomyelitis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017373 MONDO:0020683 False poliomyelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0024318 False poliomyelitis viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017373 MONDO:0024618 False poliomyelitis poliovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017375 MONDO:0005747 False congenital enterovirus infection enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017376 MONDO:0005554 False reactive arthritis rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017376 MONDO:0005554 False reactive arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017379 MONDO:0002254 False polyneuropathy-intellectual disability-acromicria-premature menopause syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017380 MONDO:0004335 False juvenile polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017380 MONDO:0004335 False juvenile polyposis syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017381 MONDO:0004609 False congenital herpes simplex virus infection herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017381 MONDO:0042971 False congenital herpes simplex virus infection congenital herpes virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017382 MONDO:0007342 False familial clubfoot due to 5q31 microdeletion clubfoot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017383 MONDO:0007342 False familial clubfoot due to PITX1 point mutation clubfoot UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017384 MONDO:0002406 False acute generalized exanthematous pustulosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017384 MONDO:0002406 False acute generalized exanthematous pustulosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017384 MONDO:0020683 False acute generalized exanthematous pustulosis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017388 MONDO:0004995 False celiac trunk compression syndrome cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017394 MONDO:0004868 False ketamine-induced biliary dilatation biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28181,24 +28205,24 @@ MONDO:0017400 MONDO:0003847 False hypoplastic pancreas-intestinal atresia-hypopl MONDO:0017404 MONDO:0010436 False distal Xq28 microduplication syndrome chromosome Xq28 duplication syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017406 MONDO:0021147 False hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017407 MONDO:0014260 False deficiency in anterior pituitary function - variable immunodeficiency syndrome immunodeficiency, common variable, 10 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017408 MONDO:0005151 False rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0002254 False fetal cytomegalovirus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017409 MONDO:0005132 False fetal cytomegalovirus syndrome cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017411 MONDO:0005265 False neonatal inflammatory skin and bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017408 MONDO:0005151 False rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0002254 False fetal cytomegalovirus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017409 MONDO:0005132 False fetal cytomegalovirus syndrome cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017411 MONDO:0005265 False neonatal inflammatory skin and bowel disease inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0017411 MONDO:0023603 False neonatal inflammatory skin and bowel disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017411 MONDO:0100118 False neonatal inflammatory skin and bowel disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017417 MONDO:0003847 False renal-hepatic-pancreatic dysplasia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017417 MONDO:0003847 False renal-hepatic-pancreatic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017418 MONDO:0005020 False chronic intestinal failure intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017424 MONDO:0021004 False non-syndromic brachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017425 MONDO:0011348 False preaxial polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017426 MONDO:0011348 False postaxial polydactyly of fingers non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017427 MONDO:0021147 False congenital deformities of limbs disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017441 MONDO:0018230 False congenital absence of upper arm and forearm with hand present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017442 MONDO:0018230 False congenital absence of thigh and lower leg with foot present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017443 MONDO:0018230 False congenital absence of both forearm and hand skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017444 MONDO:0018230 False congenital absence of both lower leg and foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017445 MONDO:0018230 False acheiria skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017446 MONDO:0018230 False apodia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017441 MONDO:0018230 False congenital absence of upper arm and forearm with hand present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017442 MONDO:0018230 False congenital absence of thigh and lower leg with foot present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017443 MONDO:0018230 False congenital absence of both forearm and hand skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017444 MONDO:0018230 False congenital absence of both lower leg and foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017445 MONDO:0018230 False acheiria skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017446 MONDO:0018230 False apodia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017450 MONDO:0018234 False split foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017452 MONDO:0017424 False non-syndromic brachydactyly of toes non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017453 MONDO:0025371 False fetal parvovirus syndrome Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28233,36 +28257,36 @@ MONDO:0017532 MONDO:0019673 False postaxial polydactyly type A, bilateral postax MONDO:0017533 MONDO:0019674 False postaxial polydactyly type B, unilateral postaxial polydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017534 MONDO:0019674 False postaxial polydactyly type B, bilateral postaxial polydactyly type B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017571 MONDO:0002051 False Proteus-like syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017571 MONDO:0003847 False Proteus-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017571 MONDO:0003847 False Proteus-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017571 MONDO:0045024 False Proteus-like syndrome cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017572 MONDO:0025294 False tick-borne encephalitis tick-borne infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017573 MONDO:0002254 False 46,XX disorder of sex development-anorectal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017574 MONDO:0002803 False chronic intestinal pseudoobstruction intestinal pseudo-obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017574 MONDO:0021189 False chronic intestinal pseudoobstruction intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0002254 False mitochondrial neurogastrointestinal encephalomyopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017575 MONDO:0002320 False mitochondrial neurogastrointestinal encephalomyopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0002254 False mitochondrial neurogastrointestinal encephalomyopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017575 MONDO:0002320 False mitochondrial neurogastrointestinal encephalomyopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017577 MONDO:0005071 False spontaneous periodic hypothermia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017582 MONDO:0002038 False pituitary adenocarcinoma head and neck carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017582 MONDO:0002415 False pituitary adenocarcinoma bone carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017582 MONDO:0004970 False pituitary adenocarcinoma adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017582 MONDO:0002038 False pituitary adenocarcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017582 MONDO:0002415 False pituitary adenocarcinoma bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017582 MONDO:0004970 False pituitary adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017583 MONDO:0002254 False mirror polydactyly-vertebral segmentation-limbs defects syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017584 MONDO:0005381 False Sagliker syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017588 MONDO:0002884 False nail tumor nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017588 MONDO:0005070 False nail tumor neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017589 MONDO:0002356 False follicular cholangitis and pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017589 MONDO:0004868 False follicular cholangitis and pancreatitis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017590 MONDO:0003090 False carcinoma of the ampulla of vater extrahepatic bile duct carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017590 MONDO:0021335 False carcinoma of the ampulla of vater carcinoma of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017590 MONDO:0003090 False carcinoma of the ampulla of vater extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017590 MONDO:0021335 False carcinoma of the ampulla of vater carcinoma of duodenum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017592 MONDO:0024313 False staphylococcal toxemia staphylococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017593 MONDO:0005144 False juvenile amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017604 MONDO:0004699 False marginal zone lymphoma gastrointestinal lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017604 MONDO:0005966 False marginal zone lymphoma spleen cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017604 MONDO:0004699 False marginal zone lymphoma gastrointestinal lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017604 MONDO:0005966 False marginal zone lymphoma spleen cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017609 MONDO:0005240 False renal tubular dysgenesis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017611 MONDO:0002082 False pituitary tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017611 MONDO:0006799 False pituitary tumor hypothalamic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017611 MONDO:0002082 False pituitary tumor endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017611 MONDO:0006799 False pituitary tumor hypothalamic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017614 MONDO:0002320 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017614 MONDO:0020119 False X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017615 MONDO:0015653 False benign familial infantile epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017615 MONDO:0015653 False benign familial infantile epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017624 MONDO:0018100 False familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017625 MONDO:0018100 False familial primary hypomagnesemia with hypocalcuria familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017627 MONDO:0002254 False congenital hereditary facial paralysis-variable hearing loss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28276,43 +28300,43 @@ MONDO:0017639 MONDO:0800373 False carbon monoxide-induced parkinsonism carbon mo MONDO:0017640 MONDO:0021095 False cyanide-induced parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017640 MONDO:0029000 False cyanide-induced parkinsonism poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017642 MONDO:0002254 False intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017648 MONDO:0005071 False Sydenham chorea nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017648 MONDO:0005071 False Sydenham chorea nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017649 MONDO:0003441 False hemidystonia-hemiatrophy syndrome dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017658 MONDO:0005395 False hyperekplexia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017683 MONDO:0100463 False methylcobalamin deficiency type cblDv1 methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017685 MONDO:0100463 False vitamin B12-responsive methylmalonic acidemia, type cblDv2 methylmalonic aciduria and/or homocystinuria, cblD type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017686 MONDO:0005071 False inborn aminoacylase deficiency nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017688 MONDO:0016789 False disorder of glycolysis pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017688 MONDO:0019254 False disorder of glycolysis inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017688 MONDO:0016789 False disorder of glycolysis pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017688 MONDO:0019254 False disorder of glycolysis inborn disorder of purine or pyrimidine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017691 MONDO:0800152 False erythrocyte galactose epimerase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017692 MONDO:0800152 False generalized galactose epimerase deficiency disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017703 MONDO:0100257 False disorder of glyoxylate metabolism peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017704 MONDO:0005384 False familial partial epilepsy focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017708 MONDO:0015905 False mevalonate kinase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017711 MONDO:0013700 False pancreatic colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017712 MONDO:0013700 False combined pancreatic lipase-colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017708 MONDO:0015905 False mevalonate kinase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017711 MONDO:0013700 False pancreatic colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017712 MONDO:0013700 False combined pancreatic lipase-colipase deficiency pancreatic triacylglycerol lipase deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017713 MONDO:0037858 False disorder of fatty acid oxidation and ketogenesis inherited fatty acid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017713 MONDO:0045022 False disorder of fatty acid oxidation and ketogenesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017728 MONDO:0010100 False Tay-Sachs disease, B1 variant Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017729 MONDO:0009591 False metachromatic leukodystrophy, late infantile form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017730 MONDO:0009591 False metachromatic leukodystrophy, adult form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017728 MONDO:0010100 False Tay-Sachs disease, B1 variant Tay-Sachs disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017729 MONDO:0009591 False metachromatic leukodystrophy, late infantile form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017730 MONDO:0009591 False metachromatic leukodystrophy, adult form metachromatic leukodystrophy, juvenile form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017735 MONDO:0042981 False congenital aortic valve stenosis aortic valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017737 MONDO:0017706 False intermediate severe Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017737 MONDO:0017706 False intermediate severe Salla disease disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017740 MONDO:0045010 False disorder of protein N-glycosylation glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017741 MONDO:0045010 False disorder of protein O-glycosylation glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017746 MONDO:0700092 False atypical Rett syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017748 MONDO:0002525 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017748 MONDO:0002525 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017748 MONDO:0024321 False inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017754 MONDO:0037821 False inborn disorder of porphyrin metabolism porphyrin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017755 MONDO:0024431 False inborn disorder of bilirubin metabolism bilirubin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017767 MONDO:0005554 False rheumatic fever rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017767 MONDO:0005554 False rheumatic fever rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017767 MONDO:0021673 False rheumatic fever post-bacterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017769 MONDO:0005046 False acquired immunodeficiency immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017770 MONDO:0015160 False Robinow-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017772 MONDO:0005093 False oral erosive lichen skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017773 MONDO:0005066 False hypoalphalipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017773 MONDO:0005066 False hypoalphalipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017775 MONDO:0043953 False melioidosis burkholderia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017778 MONDO:0005328 False lamellar ichthyosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017778 MONDO:0005328 False lamellar ichthyosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017778 MONDO:0100118 False lamellar ichthyosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017782 MONDO:0002254 False developmental and speech delay due to SOX5 deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017783 MONDO:0002356 False congenital pancreatic cyst pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28322,15 +28346,15 @@ MONDO:0017785 MONDO:0100118 False PENS syndrome hereditary skin disorder UNSUPPO MONDO:0017787 MONDO:0005046 False erythroderma desquamativum immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017789 MONDO:0005328 False idiopathic linear interstitial keratitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017789 MONDO:0700007 False idiopathic linear interstitial keratitis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017790 MONDO:0000147 False gastric adenocarcinoma and proximal polyposis of the stomach polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017791 MONDO:0019019 False high bone mass osteogenesis imperfecta osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017790 MONDO:0000147 False gastric adenocarcinoma and proximal polyposis of the stomach polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017791 MONDO:0019019 False high bone mass osteogenesis imperfecta osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017792 MONDO:0000508 False 7p22.1 microduplication syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017792 MONDO:0002320 False 7p22.1 microduplication syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017795 MONDO:0000636 False ameloblastoma musculoskeletal system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017795 MONDO:0036976 False ameloblastoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017795 MONDO:0000636 False ameloblastoma musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017795 MONDO:0036976 False ameloblastoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017798 MONDO:0002254 False Spigelian hernia-cryptorchidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017799 MONDO:0000646 False Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017799 MONDO:0021058 False Meigs syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017799 MONDO:0000646 False Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017799 MONDO:0021058 False Meigs syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017800 MONDO:0000646 False pseudo-Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017801 MONDO:0000646 False atypical Meigs syndrome ovarian benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017802 MONDO:0024387 False ovarian fibrothecoma benign ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28339,34 +28363,34 @@ MONDO:0017803 MONDO:0005559 False primary progressive apraxia of speech neurodeg MONDO:0017804 MONDO:0002254 False autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017804 MONDO:0003847 False autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017805 MONDO:0100239 False intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome inherited hypertrophic pyloric stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017807 MONDO:0021058 False growing teratoma syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017807 MONDO:0021058 False growing teratoma syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0005071 False duplication of the pituitary gland nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0005151 False duplication of the pituitary gland endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017808 MONDO:0021147 False duplication of the pituitary gland disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017809 MONDO:0011706 False parkinsonism due to ATP13A2 deficiency Kufor-Rakeb syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017809 MONDO:0019262 False parkinsonism due to ATP13A2 deficiency juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017809 MONDO:0011706 False parkinsonism due to ATP13A2 deficiency Kufor-Rakeb syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017809 MONDO:0019262 False parkinsonism due to ATP13A2 deficiency juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017811 MONDO:0002254 False severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017818 MONDO:0005385 False lethal arteriopathy syndrome due to fibulin-4 deficiency vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017819 MONDO:0007436 False atypical dentin dysplasia due to SMOC2 deficiency dentin dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017819 MONDO:0007436 False atypical dentin dysplasia due to SMOC2 deficiency dentin dysplasia type I UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017824 MONDO:0023603 False familial isolated pituitary adenoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0002217 False malignant peripheral nerve sheath tumor central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017827 MONDO:0100342 False malignant peripheral nerve sheath tumor malignant glioma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017827 MONDO:0002217 False malignant peripheral nerve sheath tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017827 MONDO:0100342 False malignant peripheral nerve sheath tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017829 MONDO:0000426 False autosomal dominant proximal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017829 MONDO:0019052 False autosomal dominant proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017829 MONDO:0019052 False autosomal dominant proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017832 MONDO:0020590 False mycobacterium xenopi infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002242 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002243 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002254 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017838 MONDO:0003847 False sclerosteosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017842 MONDO:0015962 False Senior-Loken syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017843 MONDO:0005087 False congenital pulmonary sequestration respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017838 MONDO:0003847 False sclerosteosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017842 MONDO:0015962 False Senior-Loken syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017843 MONDO:0005087 False congenital pulmonary sequestration respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017846 MONDO:0000426 False autosomal dominant spastic ataxia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017847 MONDO:0006025 False autosomal recessive spastic ataxia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017849 MONDO:0005087 False Siegler-Brewer-Carey syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017850 MONDO:0010831 False sirenomelia familial caudal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017852 MONDO:0020071 False infantile spasms-broad thumbs syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017853 MONDO:0000771 False hypersensitivity pneumonitis allergic respiratory disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017853 MONDO:0043905 False hypersensitivity pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017850 MONDO:0010831 False sirenomelia familial caudal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017852 MONDO:0020071 False infantile spasms-broad thumbs syndrome infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017853 MONDO:0000771 False hypersensitivity pneumonitis allergic respiratory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017853 MONDO:0043905 False hypersensitivity pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017856 MONDO:0002254 False X-linked spasticity-intellectual disability-epilepsy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017857 MONDO:0002254 False spina bifida-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017859 MONDO:0029000 False colchicine poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28374,7 +28398,7 @@ MONDO:0017860 MONDO:0029000 False methanol poisoning poisoning UNSUPPORTED-MISSI MONDO:0017861 MONDO:0029000 False ethylene glycol poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017862 MONDO:0029000 False paraquat poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017863 MONDO:0800388 False digitalis poisoning cardiac glycoside intoxication UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017864 MONDO:0020292 False congenital pulmonary veins atresia or stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017864 MONDO:0020292 False congenital pulmonary veins atresia or stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017867 MONDO:0013415 False distal 17p13.1 microdeletion syndrome chromosome 17p13.1 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017868 MONDO:0003847 False diencephalic-mesencephalic junction dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017868 MONDO:0021147 False diencephalic-mesencephalic junction dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28383,9 +28407,9 @@ MONDO:0017874 MONDO:0005651 False Argentine hemorrhagic fever arenavirus hemorrh MONDO:0017874 MONDO:0100120 False Argentine hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017875 MONDO:0100120 False Bolivian hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017876 MONDO:0100120 False Venezuelan hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0002254 False hantavirus pulmonary syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0005780 False hantavirus pulmonary syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017879 MONDO:0024352 False hantavirus pulmonary syndrome viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0002254 False hantavirus pulmonary syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017879 MONDO:0005780 False hantavirus pulmonary syndrome hantavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017879 MONDO:0024352 False hantavirus pulmonary syndrome viral respiratory tract infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017879 MONDO:0100120 False hantavirus pulmonary syndrome vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017880 MONDO:0100120 False Rift valley fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017881 MONDO:0005763 False Kyasanur forest disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28400,15 +28424,15 @@ MONDO:0017907 MONDO:0004034 False primary lymphoma of the conjunctiva eye lympho MONDO:0017909 MONDO:0024626 False inherited glutathione synthetase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017909 MONDO:0040566 False inherited glutathione synthetase deficiency inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017918 MONDO:0002254 False white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017919 MONDO:0005240 False exstrophy-epispadias complex kidney disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017919 MONDO:0005240 False exstrophy-epispadias complex kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017920 MONDO:0002254 False deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017921 MONDO:0002254 False hearing loss-familial salivary gland insensitivity to aldosterone syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017923 MONDO:0001411 False multiple synostoses syndrome synostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017923 MONDO:0002254 False multiple synostoses syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017923 MONDO:0001411 False multiple synostoses syndrome synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017923 MONDO:0002254 False multiple synostoses syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017924 MONDO:0002254 False central nervous system calcification-deafness-tubular acidosis-anemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017926 MONDO:0017190 False multiple paragangliomas associated with polycythemia sporadic pheochromocytoma/secreting paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017926 MONDO:0017190 False multiple paragangliomas associated with polycythemia sporadic pheochromocytoma/secreting paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017928 MONDO:0000508 False 9p13 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017928 MONDO:0008013 False 9p13 microdeletion syndrome chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017928 MONDO:0008013 False 9p13 microdeletion syndrome chromosome 9p deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017929 MONDO:0002320 False congenital achiasma congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017929 MONDO:0021147 False congenital achiasma disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017930 MONDO:0005381 False mixed sclerosing bone dystrophy with extra-skeletal manifestations bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28423,24 +28447,24 @@ MONDO:0017947 MONDO:0011583 False ABeta amyloidosis, Italian type cerebral amylo MONDO:0017948 MONDO:0011583 False ABetaA21G amyloidosis cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017949 MONDO:0011583 False ABeta amyloidosis, Arctic type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017953 MONDO:0023603 False hereditary periodic fever syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0007179 False autoimmune lymphoproliferative syndrome autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017979 MONDO:0021058 False autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017979 MONDO:0007179 False autoimmune lymphoproliferative syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017979 MONDO:0021058 False autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0002254 False syngnathia multiple anomalies syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0003847 False syngnathia multiple anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017981 MONDO:0003847 False syngnathia-cleft palate syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017983 MONDO:0001411 False humero-radio-ulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017983 MONDO:0003847 False humero-radio-ulnar synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017985 MONDO:0001411 False congenital radioulnar synostosis synostosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017986 MONDO:0002525 False disorder of plasmalogens biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017985 MONDO:0001411 False congenital radioulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017986 MONDO:0002525 False disorder of plasmalogens biosynthesis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017986 MONDO:0100257 False disorder of plasmalogens biosynthesis peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017988 MONDO:0007263 False multifocal atrial tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017989 MONDO:0007263 False His bundle tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017990 MONDO:0008648 False catecholaminergic polymorphic ventricular tachycardia ventricular tachycardia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017989 MONDO:0007263 False His bundle tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017990 MONDO:0008648 False catecholaminergic polymorphic ventricular tachycardia ventricular tachycardia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0017990 MONDO:0020575 False catecholaminergic polymorphic ventricular tachycardia polymorphic ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0002254 False Takayasu arteritis syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0020592 False Takayasu arteritis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017991 MONDO:0043494 False Takayasu arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017992 MONDO:0002412 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017991 MONDO:0002254 False Takayasu arteritis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017991 MONDO:0020592 False Takayasu arteritis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017991 MONDO:0043494 False Takayasu arteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017992 MONDO:0002412 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0005046 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017992 MONDO:0023603 False autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017993 MONDO:0011057 False cerebral sinovenous thrombosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28449,66 +28473,66 @@ MONDO:0017994 MONDO:0003847 False severe early-onset obesity-insulin resistance MONDO:0017995 MONDO:0002254 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0003847 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017995 MONDO:0015159 False spondylocostal dysostosis-hypospadias-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017999 MONDO:0015905 False fatty acid hydroxylase-associated neurodegeneration syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017999 MONDO:0015905 False fatty acid hydroxylase-associated neurodegeneration syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018000 MONDO:0009332 False hereditary thrombocytosis with transverse limb defect congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018001 MONDO:0024296 False inverse Klippel-Trenaunay syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018007 MONDO:0700086 False mosaic genome-wide paternal uniparental disomy uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018008 MONDO:0005110 False idiopathic giant cell myocarditis idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018009 MONDO:0004298 False non-hypoproteinemic hypertrophic gastropathy stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018015 MONDO:0005554 False intermittent hydrarthrosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018017 MONDO:0021659 False goblet cell carcinoma combined carcinoid and adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018017 MONDO:0021659 False goblet cell carcinoma combined carcinoid and adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018019 MONDO:0029000 False lead poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018020 MONDO:0029000 False mercury poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018021 MONDO:0002254 False hypotrichosis-deafness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018023 MONDO:0018963 False hemoglobin M disease hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018024 MONDO:0002406 False hydroa vacciniforme dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018023 MONDO:0018963 False hemoglobin M disease hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018024 MONDO:0002406 False hydroa vacciniforme dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018025 MONDO:0005093 False chronic actinic dermatitis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018029 MONDO:0002241 False congenital factor XIII deficiency factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018029 MONDO:0002243 False congenital factor XIII deficiency hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018029 MONDO:0009332 False congenital factor XIII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018029 MONDO:0002243 False congenital factor XIII deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018029 MONDO:0009332 False congenital factor XIII deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018030 MONDO:0700043 False tetrasomy 9p syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018034 MONDO:0002254 False thalidomide embryopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018034 MONDO:0002254 False thalidomide embryopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018043 MONDO:0005267 False Thomas syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018044 MONDO:0005466 False idiopathic hypersomnia hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018044 MONDO:0005466 False idiopathic hypersomnia hypersomnia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018044 MONDO:0700007 False idiopathic hypersomnia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018045 MONDO:0010584 False Hoyeraal-Hreidarsson syndrome dyskeratosis congenita, X-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018046 MONDO:0003847 False thrombocytopenia-Robin sequence syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018048 MONDO:0000831 False heparin-induced thrombocytopenia thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018050 MONDO:0003847 False tibial aplasia-ectrodactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018051 MONDO:0005093 False Jessner lymphocytic infiltration of the skin skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018054 MONDO:0003847 False familial atrial fibrillation hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018058 MONDO:0005087 False tracheal agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018054 MONDO:0003847 False familial atrial fibrillation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018058 MONDO:0005087 False tracheal agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018058 MONDO:0021147 False tracheal agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018058 MONDO:0024623 False tracheal agenesis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018058 MONDO:0024623 False tracheal agenesis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018060 MONDO:0002242 False congenital fibrinogen deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018060 MONDO:0002243 False congenital fibrinogen deficiency hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018062 MONDO:0019287 False autosomal dominant trichoodontoonychodysplasia-syndactyly ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018065 MONDO:0000156 False isolated trigonocephaly trigonocephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018066 MONDO:0002254 False trisomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018066 MONDO:0002254 False trisomy X syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018066 MONDO:0700027 False trisomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018066 MONDO:0700065 False trisomy X trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018068 MONDO:0002254 False trisomy 13 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018068 MONDO:0002254 False trisomy 13 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018068 MONDO:0020247 False trisomy 13 congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0700020 False trisomy 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018068 MONDO:0700065 False trisomy 13 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018070 MONDO:0045024 False familial multiple fibrofolliculoma cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018070 MONDO:0100118 False familial multiple fibrofolliculoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018071 MONDO:0002254 False trisomy 18 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018071 MONDO:0002254 False trisomy 18 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018071 MONDO:0700065 False trisomy 18 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018071 MONDO:0700125 False trisomy 18 chromosome 18 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018072 MONDO:0005453 False persistent truncus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018076 MONDO:0020590 False tuberculosis mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018072 MONDO:0005453 False persistent truncus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018076 MONDO:0020590 False tuberculosis mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018077 MONDO:0100120 False tularemia vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018083 MONDO:0004741 False transient tyrosinemia of the newborn tyrosinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018085 MONDO:0002254 False umbilical cord ulceration-intestinal atresia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018085 MONDO:0004335 False umbilical cord ulceration-intestinal atresia syndrome digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018087 MONDO:0005108 False viral hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018087 MONDO:0600002 False viral hemorrhagic fever hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018087 MONDO:0005108 False viral hemorrhagic fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018087 MONDO:0600002 False viral hemorrhagic fever hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0002254 False microcephaly-brachydactyly-kyphoscoliosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0003847 False microcephaly-brachydactyly-kyphoscoliosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018091 MONDO:0005172 False microcephaly-brachydactyly-kyphoscoliosis syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018093 MONDO:0005108 False arbovirus fever viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018097 MONDO:0002254 False West syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018097 MONDO:0002254 False West syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018097 MONDO:0100022 False West syndrome neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018098 MONDO:0015151 False autosomal dominant limb-girdle muscular dystrophy type 1E (DES) muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018098 MONDO:0016187 False autosomal dominant limb-girdle muscular dystrophy type 1E (DES) qualitative or quantitative defects of desmin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28520,14 +28544,14 @@ MONDO:0018108 MONDO:0005132 False idiopathic disseminated cytomegalovirus infect MONDO:0018108 MONDO:0700007 False idiopathic disseminated cytomegalovirus infection idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018109 MONDO:0002251 False fulminant viral hepatitis hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018115 MONDO:0002254 False epidermal nevus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018116 MONDO:0005328 False galactosemia eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018116 MONDO:0005328 False galactosemia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018122 MONDO:0002254 False digital anomalies-intellectual disability-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018123 MONDO:0002254 False intellectual disability-obesity-brain malformations-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018124 MONDO:0001068 False Oncogenic osteomalacia osteomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018124 MONDO:0005151 False Oncogenic osteomalacia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018124 MONDO:0021073 False Oncogenic osteomalacia paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018124 MONDO:0001068 False Oncogenic osteomalacia osteomalacia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018124 MONDO:0005151 False Oncogenic osteomalacia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018124 MONDO:0021073 False Oncogenic osteomalacia paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018127 MONDO:0005087 False 16q24.1 microdeletion syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018135 MONDO:0017307 False oculocutaneous albinism type 1 disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018135 MONDO:0017307 False oculocutaneous albinism type 1 disorder of tyrosine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018145 MONDO:0002320 False congenital retinal arteriovenous communication congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018145 MONDO:0005283 False congenital retinal arteriovenous communication retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018146 MONDO:0005328 False idiopathic macular telangiectasia type 1 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28535,20 +28559,20 @@ MONDO:0018146 MONDO:0700007 False idiopathic macular telangiectasia type 1 idiop MONDO:0018147 MONDO:0005328 False idiopathic macular telangiectasia type 3 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018147 MONDO:0700007 False idiopathic macular telangiectasia type 3 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018148 MONDO:0002311 False vasoproliferative tumor of retina retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018149 MONDO:0005328 False GM1 gangliosidosis eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018149 MONDO:0005381 False GM1 gangliosidosis bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018150 MONDO:0005328 False Gaucher disease eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018153 MONDO:0002254 False Erdheim-Chester disease syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018149 MONDO:0005328 False GM1 gangliosidosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018149 MONDO:0005381 False GM1 gangliosidosis bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018150 MONDO:0005328 False Gaucher disease eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018153 MONDO:0002254 False Erdheim-Chester disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018154 MONDO:0007481 False Madelung deformity Leri-Weill dyschondrosteosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018155 MONDO:0024257 False lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018159 MONDO:0016244 False atypical hemolytic-uremic syndrome with DGKE deficiency atypical hemolytic-uremic syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018155 MONDO:0024257 False lateral sclerosis hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018159 MONDO:0016244 False atypical hemolytic-uremic syndrome with DGKE deficiency atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018162 MONDO:0000421 False neurometabolic disorder due to serine deficiency inborn serine deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018163 MONDO:0100118 False autosomal recessive cutis laxa type 2A hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018163 MONDO:0800064 False autosomal recessive cutis laxa type 2A osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018166 MONDO:0023369 False oral submucous fibrosis disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018169 MONDO:0007354 False morning glory syndrome coloboma of optic nerve UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018169 MONDO:0020249 False morning glory syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018170 MONDO:0005377 False idiopathic nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018169 MONDO:0007354 False morning glory syndrome coloboma of optic nerve UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018169 MONDO:0020249 False morning glory syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018170 MONDO:0005377 False idiopathic nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018170 MONDO:0700007 False idiopathic nephrotic syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018173 MONDO:0020683 False acute opioid poisoning acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018173 MONDO:0029000 False acute opioid poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28557,12 +28581,12 @@ MONDO:0018174 MONDO:0005041 False hereditary glaucoma glaucoma UNSUPPORTED-MISSI MONDO:0018175 MONDO:0002242 False combined deficiency of factor V and factor VIII coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018175 MONDO:0002243 False combined deficiency of factor V and factor VIII hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018178 MONDO:0005020 False intestinal lymphangiectasia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018181 MONDO:0005545 False staphylococcal scalded skin syndrome staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018181 MONDO:0005545 False staphylococcal scalded skin syndrome staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018181 MONDO:0024295 False staphylococcal scalded skin syndrome skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018182 MONDO:0024295 False bullous impetigo skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018183 MONDO:0005087 False staphylococcal necrotizing pneumonia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018184 MONDO:0005017 False gastric linitis plastica diffuse gastric adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018190 MONDO:0019079 False autosomal dominant childhood-onset proximal spinal muscular atrophy proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018190 MONDO:0019079 False autosomal dominant childhood-onset proximal spinal muscular atrophy proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018192 MONDO:0005447 False paratesticular adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018198 MONDO:0020683 False acute encephalopathy with biphasic seizures and late reduced diffusion acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018202 MONDO:0005040 False gonadal germ cell tumor germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28575,41 +28599,41 @@ MONDO:0018212 MONDO:0006061 False familial cervical artery dissection cervical a MONDO:0018215 MONDO:0005071 False paraneoplastic neurologic syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0021073 False paraneoplastic neurologic syndrome paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018218 MONDO:0006025 False autosomal recessive cerebral atrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018224 MONDO:0000430 False hydroa vacciniforme-like lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018224 MONDO:0000430 False hydroa vacciniforme-like lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018228 MONDO:0003847 False bipartite talus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018229 MONDO:0002254 False Stevens-Johnson syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018229 MONDO:0002254 False Stevens-Johnson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018230 MONDO:0003847 False skeletal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018230 MONDO:0005381 False skeletal dysplasia bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018237 MONDO:0003847 False acrofacial dysostosis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018237 MONDO:0019054 False acrofacial dysostosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018240 MONDO:0018230 False TRPV4-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018237 MONDO:0003847 False acrofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018237 MONDO:0019054 False acrofacial dysostosis congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018240 MONDO:0018230 False TRPV4-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018242 MONDO:0000569 False autoimmune hypoparathyroidism autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018242 MONDO:0001220 False autoimmune hypoparathyroidism hypoparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018243 MONDO:0005395 False intellectual disability-hyperkinetic movement-truncal ataxia syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018245 MONDO:0015583 False 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018245 MONDO:0015583 False 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018247 MONDO:0002254 False CADDS syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018249 MONDO:0002254 False finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018254 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Isidor type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018255 MONDO:0016763 False spondylometaphyseal dysplasia, Czarny-Ratajczak type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018255 MONDO:0016763 False spondylometaphyseal dysplasia, Czarny-Ratajczak type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018257 MONDO:0003847 False familial syringomyelia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018258 MONDO:0005073 False Angora hair nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018259 MONDO:0005073 False didymosis aplasticosebacea melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018260 MONDO:0005073 False scalp syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018261 MONDO:0005073 False Nevada syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018266 MONDO:0002254 False ataxia - telangiectasia variant syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018301 MONDO:0003900 False interstitial cystitis connective tissue disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018301 MONDO:0003900 False interstitial cystitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018302 MONDO:0005093 False acquired kinky hair syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018305 MONDO:0021166 False chronic granulomatous disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018305 MONDO:0021166 False chronic granulomatous disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018305 MONDO:0024626 False chronic granulomatous disease defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0002279 False neurodegeneration with brain iron accumulation iron metabolism disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0002283 False neurodegeneration with brain iron accumulation neuroaxonal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0005395 False neurodegeneration with brain iron accumulation movement disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018307 MONDO:0019052 False neurodegeneration with brain iron accumulation inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018308 MONDO:0024478 False liver mesenchymal hamartoma mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018309 MONDO:0003847 False Hirschsprung disease hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018307 MONDO:0002279 False neurodegeneration with brain iron accumulation iron metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018307 MONDO:0002283 False neurodegeneration with brain iron accumulation neuroaxonal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018307 MONDO:0005395 False neurodegeneration with brain iron accumulation movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018307 MONDO:0019052 False neurodegeneration with brain iron accumulation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018308 MONDO:0024478 False liver mesenchymal hamartoma mesenchymal hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018309 MONDO:0003847 False Hirschsprung disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018309 MONDO:0021189 False Hirschsprung disease intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018309 MONDO:0021635 False Hirschsprung disease neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018310 MONDO:0004805 False Langerhans cell histiocytosis leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018310 MONDO:0004805 False Langerhans cell histiocytosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018310 MONDO:0024627 False Langerhans cell histiocytosis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018315 MONDO:0005298 False X-linked osteoporosis with fractures osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018317 MONDO:0002254 False growth retardation-mild developmental delay-chronic hepatitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28618,9 +28642,9 @@ MONDO:0018317 MONDO:0004335 False growth retardation-mild developmental delay-ch MONDO:0018319 MONDO:0021667 False familial episodic pain syndrome neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018320 MONDO:0002254 False primary microcephaly-mild intellectual disability-young-onset diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018321 MONDO:0021095 False atypical juvenile parkinsonism parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018327 MONDO:0006424 False glomus tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018327 MONDO:0006424 False glomus tumor soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018328 MONDO:0005439 False homozygous familial hypercholesterolemia familial hypercholesterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018330 MONDO:0005007 False mucinous adenocarcinoma of the appendix colon mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018330 MONDO:0005007 False mucinous adenocarcinoma of the appendix colon mucinous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018334 MONDO:0001292 False chronic hiccup autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018339 MONDO:0003847 False PrP systemic amyloidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018339 MONDO:0005429 False PrP systemic amyloidosis prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28634,19 +28658,19 @@ MONDO:0018354 MONDO:0002320 False Prader-Willi-like syndrome congenital nervous MONDO:0018354 MONDO:0015160 False Prader-Willi-like syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018356 MONDO:0007179 False secondary neonatal autoimmune disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018357 MONDO:0021008 False neonatal antiphospholipid syndrome secondary antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018358 MONDO:0020108 False neonatal autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018358 MONDO:0020108 False neonatal autoimmune hemolytic anemia autoimmune hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018359 MONDO:0000589 False neonatal dermatomyositis autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018359 MONDO:0016367 False neonatal dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018360 MONDO:0007915 False neonatal lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018361 MONDO:0019340 False neonatal scleroderma scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018359 MONDO:0016367 False neonatal dermatomyositis dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018360 MONDO:0007915 False neonatal lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018361 MONDO:0019340 False neonatal scleroderma scleroderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018362 MONDO:0005071 False persistent idiopathic facial pain nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018362 MONDO:0700007 False persistent idiopathic facial pain idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018368 MONDO:0005211 False primary peritoneal serous/papillary carcinoma ovarian serous adenocarcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018369 MONDO:0003514 False immature ovarian teratoma malignant teratoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018369 MONDO:0016096 False immature ovarian teratoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018368 MONDO:0005211 False primary peritoneal serous/papillary carcinoma ovarian serous adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018369 MONDO:0003514 False immature ovarian teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018369 MONDO:0016096 False immature ovarian teratoma malignant non-dysgerminomatous germ cell tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018380 MONDO:0700007 False idiopathic avascular necrosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018383 MONDO:0003847 False osteonecrosis of genetic origin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018383 MONDO:0005380 False osteonecrosis of genetic origin osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018383 MONDO:0005380 False osteonecrosis of genetic origin osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018394 MONDO:0005372 False male infertility with teratozoospermia due to single gene mutation male infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018408 MONDO:0044346 False cystic echinococcosis echinococcus granulosus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018420 MONDO:0015150 False autosomal recessive spastic paraplegia type 68 complex hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28654,21 +28678,21 @@ MONDO:0018424 MONDO:0037858 False inherited lipoic acid biosynthesis defect inhe MONDO:0018424 MONDO:0045022 False inherited lipoic acid biosynthesis defect disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018424 MONDO:0056803 False inherited lipoic acid biosynthesis defect sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018425 MONDO:0005395 False Huntington disease-like syndrome due to C9ORF72 expansions movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018425 MONDO:0015548 False Huntington disease-like syndrome due to C9ORF72 expansions Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018425 MONDO:0015548 False Huntington disease-like syndrome due to C9ORF72 expansions Huntington disease-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018428 MONDO:0000508 False 9q31.1q31.3 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018428 MONDO:0002320 False 9q31.1q31.3 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018432 MONDO:0002523 False lichen myxedematosus cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018438 MONDO:0005020 False eosinophilic gastrointestinal disease intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018439 MONDO:0000702 False eosinophilic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018439 MONDO:0016129 False eosinophilic colitis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018439 MONDO:0000702 False eosinophilic colitis microscopic colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018439 MONDO:0016129 False eosinophilic colitis eosinophilic gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018440 MONDO:0006025 False autosomal recessive distal renal tubular acidosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018445 MONDO:0003847 False global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018448 MONDO:0007763 False clear cell papillary renal cell carcinoma nonpapillary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018450 MONDO:0001516 False spinal muscular atrophy with respiratory distress type 2 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018453 MONDO:0002051 False familial atypical multiple mole melanoma syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018458 MONDO:0005151 False familial hypocalciuric hypercalcemia endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018458 MONDO:0005151 False familial hypocalciuric hypercalcemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018460 MONDO:0005283 False Eales disease retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018467 MONDO:0019216 False nephropathic infantile cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018467 MONDO:0019216 False nephropathic infantile cystinosis inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018467 MONDO:0100151 False nephropathic infantile cystinosis nephropathic cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0005275 False pulmonary non-tuberculous mycobacterial infection lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018469 MONDO:0020590 False pulmonary non-tuberculous mycobacterial infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28678,7 +28702,7 @@ MONDO:0018470 MONDO:0100191 False renal agenesis inherited kidney disorder UNSUP MONDO:0018471 MONDO:0002527 False generalized eruptive keratoacanthoma keratoacanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018472 MONDO:0008593 False familial isolated trichomegaly trichomegaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018476 MONDO:0002254 False dystonia-aphonia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018481 MONDO:0005580 False undifferentiated carcinoma of esophagus esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018481 MONDO:0005580 False undifferentiated carcinoma of esophagus esophageal squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018483 MONDO:0001437 False secondary pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018484 MONDO:0024623 False semicircular canal dehiscence syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018486 MONDO:0005328 False visual snow syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28700,10 +28724,10 @@ MONDO:0018511 MONDO:0024479 False epithelial tumor of the appendix epithelial tu MONDO:0018516 MONDO:0005626 False epithelial tumor of anal canal epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0021118 False epithelial tumor of anal canal intestinal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018516 MONDO:0024634 False epithelial tumor of anal canal large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018521 MONDO:0005192 False squamous cell carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018523 MONDO:0005192 False pancreatic mucinous cystadenoma exocrine pancreatic carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018523 MONDO:0006859 False pancreatic mucinous cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018523 MONDO:0020596 False pancreatic mucinous cystadenoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018521 MONDO:0005192 False squamous cell carcinoma of pancreas exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018523 MONDO:0005192 False pancreatic mucinous cystadenoma exocrine pancreatic carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018523 MONDO:0006859 False pancreatic mucinous cystadenoma mucinous cystadenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018523 MONDO:0020596 False pancreatic mucinous cystadenoma mucin-producing carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018528 MONDO:0100150 False congenital myopathy with myasthenic-like onset RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018533 MONDO:0005617 False undifferentiated carcinoma of liver and intrahepatic biliary tract undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018534 MONDO:0005096 False squamous cell carcinoma of liver and intrahepatic biliary tract squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28711,9 +28735,9 @@ MONDO:0018535 MONDO:0003060 False biliary cystadenocarcinoma biliary tract cance MONDO:0018535 MONDO:0005596 False biliary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018536 MONDO:0002665 False adenocarcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018537 MONDO:0006203 False squamous cell carcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018542 MONDO:0003847 False severe congenital neutropenia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018543 MONDO:0005557 False autosomal dominant hypocalcemia calcium metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018544 MONDO:0005495 False adrenoleukodystrophy adrenal gland disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018542 MONDO:0003847 False severe congenital neutropenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018543 MONDO:0005557 False autosomal dominant hypocalcemia calcium metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018544 MONDO:0005495 False adrenoleukodystrophy adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018544 MONDO:0100372 False adrenoleukodystrophy disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018546 MONDO:0005071 False serotonin syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018547 MONDO:0020683 False acute tricyclic antidepressant poisoning acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28721,22 +28745,22 @@ MONDO:0018547 MONDO:0029000 False acute tricyclic antidepressant poisoning poiso MONDO:0018548 MONDO:0020683 False acute poisoning by drugs with membrane-stabilizing effect acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018548 MONDO:0029000 False acute poisoning by drugs with membrane-stabilizing effect poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018554 MONDO:0005087 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018554 MONDO:0015924 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018555 MONDO:0003847 False hypogonadotropic hypogonadism hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018554 MONDO:0015924 False pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018555 MONDO:0003847 False hypogonadotropic hypogonadism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018559 MONDO:0005240 False fetal lower urinary tract obstruction kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018561 MONDO:0000088 False precocious puberty in female precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018561 MONDO:0000088 False precocious puberty in female precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018563 MONDO:0018230 False adactyly of foot skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018563 MONDO:0018234 False adactyly of foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018565 MONDO:0002118 False congenital urachal anomaly urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018567 MONDO:0011468 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation hereditary motor and sensory neuropathy, Okinawa type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018567 MONDO:0011468 False autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation hereditary motor and sensory neuropathy, Okinawa type UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018569 MONDO:0002254 False X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018570 MONDO:0000426 False hypophosphatasia autosomal dominant disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018570 MONDO:0019052 False hypophosphatasia inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018570 MONDO:0000426 False hypophosphatasia autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018570 MONDO:0019052 False hypophosphatasia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018571 MONDO:0015160 False contractures-developmental delay-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018572 MONDO:0002254 False severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018573 MONDO:0002254 False intrauterine growth restriction-short stature-early adult-onset diabetes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018577 MONDO:0002254 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018577 MONDO:0021154 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018577 MONDO:0021154 False pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018582 MONDO:0021040 False GCGR-related hyperglucagonemia pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018583 MONDO:0005108 False human infection by orthopoxvirus viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018585 MONDO:0000473 False pediatric arterial ischemic stroke arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28751,16 +28775,16 @@ MONDO:0018600 MONDO:0015083 False congenital abducens nerve palsy nuclear oculom MONDO:0018601 MONDO:0003847 False autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018601 MONDO:0005381 False autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018602 MONDO:0005113 False necrotizing soft tissue infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018603 MONDO:0012580 False interstitial lung disease due to SP-C deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018603 MONDO:0012580 False interstitial lung disease due to SP-C deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0002135 False extensive peripapillary myelinated nerve fibers optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0005328 False extensive peripapillary myelinated nerve fibers eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018607 MONDO:0021220 False combined hamartoma of the retina and retinal pigment epithelium eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018607 MONDO:0021220 False combined hamartoma of the retina and retinal pigment epithelium eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018608 MONDO:0001292 False pure autonomic failure autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018608 MONDO:0007803 False pure autonomic failure multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018608 MONDO:0007803 False pure autonomic failure multiple system atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018611 MONDO:0013411 False early-onset lamellar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0015653 False undetermined early-onset epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018614 MONDO:0019216 False undetermined early-onset epileptic encephalopathy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018616 MONDO:0005283 False central serous chorioretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018614 MONDO:0015653 False undetermined early-onset epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018614 MONDO:0019216 False undetermined early-onset epileptic encephalopathy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018616 MONDO:0005283 False central serous chorioretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018617 MONDO:0001292 False baroreflex failure autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018620 MONDO:0005071 False hypothalamic adipsic hypernatraemia syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018620 MONDO:0005151 False hypothalamic adipsic hypernatraemia syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28771,40 +28795,40 @@ MONDO:0018624 MONDO:0021146 False spontaneous intracranial hypotension headache MONDO:0018628 MONDO:0024571 False HIV-associated cancer AIDS-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018630 MONDO:0023113 False hereditary nonpolyposis colon cancer familial colorectal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018631 MONDO:0003037 False Marie Unna hereditary hypotrichosis hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018634 MONDO:0019052 False hereditary amyloidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018634 MONDO:0019065 False hereditary amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018634 MONDO:0019052 False hereditary amyloidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018634 MONDO:0019065 False hereditary amyloidosis amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018635 MONDO:0700007 False idiopathic phalangeal acro-osteolysis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018636 MONDO:0021094 False autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018637 MONDO:0002254 False familial chylomicronemia syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018637 MONDO:0002254 False familial chylomicronemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018639 MONDO:0002254 False caudal regression-sirenomelia spectrum syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018643 MONDO:0020573 False susceptibility to localized juvenile periodontitis inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018644 MONDO:0015091 False autosomal dominant complex spastic paraplegia type 9B autosomal dominant spastic paraplegia type 9 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018645 MONDO:0000569 False IgG4-related sclerosing cholangitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018645 MONDO:0000588 False IgG4-related sclerosing cholangitis autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018648 MONDO:0021192 False Keratocystic odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018648 MONDO:0021192 False Keratocystic odontogenic tumor odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018654 MONDO:0700007 False idiopathic dropped head syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018655 MONDO:0021147 False hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018656 MONDO:0004884 False tremor-ataxia-central hypomyelination syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018656 MONDO:0024237 False tremor-ataxia-central hypomyelination syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018656 MONDO:0024237 False tremor-ataxia-central hypomyelination syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018657 MONDO:0006025 False pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018660 MONDO:0002242 False hemophilia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018660 MONDO:0002242 False hemophilia coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018661 MONDO:0005763 False Zika virus infectious disease Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018661 MONDO:0100120 False Zika virus infectious disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018662 MONDO:0006025 False autosomal recessive brachyolmia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018666 MONDO:0007256 False hepatoblastoma hepatocellular carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018666 MONDO:0007256 False hepatoblastoma hepatocellular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018668 MONDO:0002041 False scedosporiosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018669 MONDO:0029000 False snakebite envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018670 MONDO:0010383 False symptomatic form of fragile X syndrome in female carrier fragile X syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018670 MONDO:0010706 False symptomatic form of fragile X syndrome in female carrier premature ovarian failure 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018670 MONDO:0010383 False symptomatic form of fragile X syndrome in female carrier fragile X syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018670 MONDO:0010706 False symptomatic form of fragile X syndrome in female carrier premature ovarian failure 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018671 MONDO:0005240 False IgG4-related kidney disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018673 MONDO:0021166 False IgG4-related pachymeningitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018674 MONDO:0000587 False IgG4-related submandibular gland disease autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018675 MONDO:0005328 False IgG4-related ophthalmic disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018676 MONDO:0000587 False eosinophilic angiocentric fibrosis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018677 MONDO:0002254 False visceral heterotaxy syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018677 MONDO:0003847 False visceral heterotaxy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018677 MONDO:0002254 False visceral heterotaxy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018677 MONDO:0003847 False visceral heterotaxy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018679 MONDO:0005093 False primary cutaneous plasmacytosis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018680 MONDO:0005093 False cutaneous pseudolymphoma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018680 MONDO:0005093 False cutaneous pseudolymphoma skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018681 MONDO:0002320 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018681 MONDO:0700092 False neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018682 MONDO:0002320 False congenital insensitivity to pain with severe intellectual disability congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28813,17 +28837,17 @@ MONDO:0018684 MONDO:0005310 False idiopathic neonatal atrial flutter atrial flut MONDO:0018684 MONDO:0700007 False idiopathic neonatal atrial flutter idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018685 MONDO:0007263 False incessant infant ventricular tachycardia cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018686 MONDO:0005357 False acquired Creutzfeldt-Jakob disease Creutzfeldt Jacob disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018687 MONDO:0004976 False progressive muscular atrophy amyotrophic lateral sclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018689 MONDO:0004967 False plasma cell leukemia acute lymphoblastic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018689 MONDO:0015759 False plasma cell leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018687 MONDO:0004976 False progressive muscular atrophy amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018689 MONDO:0004967 False plasma cell leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018689 MONDO:0015759 False plasma cell leukemia B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018692 MONDO:0005395 False variably protease-sensitive prionopathy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018694 MONDO:0002567 False isolated tracheo-esophageal fistula tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018694 MONDO:0003749 False isolated tracheo-esophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018694 MONDO:0002567 False isolated tracheo-esophageal fistula tracheal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018694 MONDO:0003749 False isolated tracheo-esophageal fistula esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018696 MONDO:0005395 False corticobasal syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018696 MONDO:0015547 False corticobasal syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018696 MONDO:0024237 False corticobasal syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018696 MONDO:0015547 False corticobasal syndrome hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018696 MONDO:0024237 False corticobasal syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0003847 False hereditary neuroendocrine tumor of small intestine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018698 MONDO:0018510 False hereditary neuroendocrine tumor of small intestine small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018698 MONDO:0018510 False hereditary neuroendocrine tumor of small intestine small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018702 MONDO:0007179 False Castleman-Kojima disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018703 MONDO:0021147 False isolated splenogonadal fusion disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018709 MONDO:0020119 False X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28831,21 +28855,21 @@ MONDO:0018710 MONDO:0014863 False megalencephaly-severe kyphoscoliosis-overgrowt MONDO:0018724 MONDO:0002320 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0016761 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018736 MONDO:0024296 False kaposiform lymphangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018737 MONDO:8000010 False catastrophic antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018737 MONDO:8000010 False catastrophic antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018738 MONDO:0002513 False benign metanephric tumor kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018739 MONDO:0001475 False neonatal alloimmune neutropenia neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018740 MONDO:0001117 False drug-induced methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018740 MONDO:0001117 False drug-induced methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018740 MONDO:0044349 False drug-induced methemoglobinemia acquired hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018741 MONDO:0029000 False paracetamol poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018742 MONDO:0015062 False familial gastric type 1 neuroendocrine tumor gastric neuroendocrine tumor, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018744 MONDO:0100342 False oligodendroglial tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018744 MONDO:0100342 False oligodendroglial tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018751 MONDO:0003847 False hereditary otorhinolaryngologic disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018751 MONDO:0024623 False hereditary otorhinolaryngologic disease otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018752 MONDO:0005071 False exercise-induced malignant hyperthermia nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018754 MONDO:0029000 False cyanide poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018755 MONDO:0029000 False scorpion envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018757 MONDO:0024623 False supratip dysplasia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018761 MONDO:0000376 False SMARCA4-deficient sarcoma of thorax respiratory system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018761 MONDO:0000376 False SMARCA4-deficient sarcoma of thorax respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018761 MONDO:0020641 False SMARCA4-deficient sarcoma of thorax respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018763 MONDO:0100153 False tubulinopathy-associated dysgyria tubulinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018764 MONDO:0002254 False microcephalic primordial dwarfism due to RTTN deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28857,17 +28881,17 @@ MONDO:0018772 MONDO:0021147 False Joubert syndrome disorder of development or mo MONDO:0018773 MONDO:0002320 False autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018776 MONDO:0015358 False demyelinating hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018780 MONDO:0002254 False congenital generalized hypercontractile muscle stiffness syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018780 MONDO:0019952 False congenital generalized hypercontractile muscle stiffness syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018780 MONDO:0019952 False congenital generalized hypercontractile muscle stiffness syndrome congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018780 MONDO:0021147 False congenital generalized hypercontractile muscle stiffness syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018783 MONDO:0005554 False fibroblastic rheumatism rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018784 MONDO:0005301 False pediatric multiple sclerosis multiple sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018793 MONDO:0005473 False primary condylar hyperplasia temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018794 MONDO:0000009 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018794 MONDO:0000009 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0018794 MONDO:0005020 False cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018795 MONDO:0100241 False syndromic constitutional thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018800 MONDO:0002254 False Kallmann syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018800 MONDO:0002254 False Kallmann syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018801 MONDO:0021147 False congenital bilateral absence of vas deferens disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018805 MONDO:0003847 False bile duct cyst hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018805 MONDO:0003847 False bile duct cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018805 MONDO:0005154 False bile duct cyst liver disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018806 MONDO:0004868 False primary intrahepatic lithiasis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018807 MONDO:0004868 False idiopathic ductopenia biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28879,47 +28903,47 @@ MONDO:0018809 MONDO:0002251 False idiopathic peliosis hepatis hepatitis UNSUPPOR MONDO:0018809 MONDO:0700007 False idiopathic peliosis hepatis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018811 MONDO:0005385 False congenital portosystemic shunt vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018811 MONDO:0021147 False congenital portosystemic shunt disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018815 MONDO:0023603 False aneurysmal bone cyst hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018815 MONDO:0023603 False aneurysmal bone cyst hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018816 MONDO:0003847 False isolated neonatal sclerosing cholangitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018821 MONDO:0002254 False X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018822 MONDO:0002320 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018822 MONDO:0005328 False global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018823 MONDO:0002320 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018823 MONDO:0020119 False X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018827 MONDO:0019557 False familial chilblain lupus chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018827 MONDO:0019557 False familial chilblain lupus chilblain lupus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0023603 False familial chilblain lupus hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018827 MONDO:0100118 False familial chilblain lupus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018828 MONDO:0002254 False pseudo-TORCH syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018829 MONDO:0800461 False familial schizencephaly COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018830 MONDO:0002052 False Kimura disease lymphadenitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018830 MONDO:0007179 False Kimura disease autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018830 MONDO:0002052 False Kimura disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018830 MONDO:0007179 False Kimura disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018832 MONDO:0011057 False HTRA1-related autosomal dominant cerebral small vessel disease cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018835 MONDO:0005154 False nodular regenerative hyperplasia of the liver liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018835 MONDO:0100137 False nodular regenerative hyperplasia of the liver telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018837 MONDO:0021669 False postinfectious vasculitis post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018838 MONDO:0003847 False lissencephaly spectrum disorders hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018838 MONDO:0003847 False lissencephaly spectrum disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018838 MONDO:0021147 False lissencephaly spectrum disorders disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018840 MONDO:0004868 False isolated congenital hepatic fibrosis biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018840 MONDO:0007329 False isolated congenital hepatic fibrosis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018840 MONDO:0007329 False isolated congenital hepatic fibrosis cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018847 MONDO:0100298 False omphalomesenteric cyst abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018851 MONDO:0002527 False familial keratoacanthoma keratoacanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018851 MONDO:0100118 False familial keratoacanthoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018852 MONDO:0005283 False achromatopsia retinal disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018853 MONDO:0017851 False transgrediens et progrediens palmoplantar keratoderma erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018852 MONDO:0005283 False achromatopsia retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018853 MONDO:0017851 False transgrediens et progrediens palmoplantar keratoderma erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018854 MONDO:0000809 False acquired purpura fulminans purpura fulminans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018854 MONDO:0000831 False acquired purpura fulminans thrombotic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018855 MONDO:0021036 False keratosis pilaris atrophicans keratosis pilaris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018855 MONDO:0100118 False keratosis pilaris atrophicans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018860 MONDO:0002254 False microlissencephaly-micromelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018864 MONDO:0002052 False Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0006025 False Aicardi-Goutieres syndrome autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018870 MONDO:0003847 False arterial calcification of infancy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018875 MONDO:0005071 False Li-Fraumeni syndrome nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018877 MONDO:0007639 False retinitis punctata albescens fundus albipunctatus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018882 MONDO:0021166 False vasculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018864 MONDO:0002052 False Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018866 MONDO:0006025 False Aicardi-Goutieres syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018870 MONDO:0003847 False arterial calcification of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018875 MONDO:0005071 False Li-Fraumeni syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018877 MONDO:0007639 False retinitis punctata albescens fundus albipunctatus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018882 MONDO:0021166 False vasculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018883 MONDO:0021147 False Berardinelli-Seip congenital lipodystrophy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018885 MONDO:0021220 False orbital leiomyoma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018889 MONDO:0002320 False hyaline body myopathy congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018889 MONDO:0002320 False hyaline body myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018891 MONDO:0002051 False familial tumoral calcinosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002082 False familial tumoral calcinosis endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018891 MONDO:0002123 False familial tumoral calcinosis calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28927,28 +28951,28 @@ MONDO:0018892 MONDO:0003110 False Wyburn-Mason syndrome skin hemangioma UNSUPPOR MONDO:0018892 MONDO:0021605 False Wyburn-Mason syndrome benign eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0042983 False Wyburn-Mason syndrome neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018892 MONDO:0043218 False Wyburn-Mason syndrome neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0001256 False Cobb syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0003110 False Cobb syndrome skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018893 MONDO:0015356 False Cobb syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0001256 False Cobb syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0003110 False Cobb syndrome skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018893 MONDO:0015356 False Cobb syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018893 MONDO:0100118 False Cobb syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018895 MONDO:0002254 False Plummer-Vinson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018896 MONDO:0043768 False thrombotic thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018899 MONDO:0015547 False posterior cortical atrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018895 MONDO:0002254 False Plummer-Vinson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018896 MONDO:0043768 False thrombotic thrombocytopenic purpura thrombocytopenic purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018899 MONDO:0015547 False posterior cortical atrophy hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018900 MONDO:0005093 False corticosteroid-sensitive aseptic abscess syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0002254 False left ventricular noncompaction syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018901 MONDO:0002254 False left ventricular noncompaction syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018901 MONDO:0005217 False left ventricular noncompaction familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018901 MONDO:0005453 False left ventricular noncompaction congenital heart disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018902 MONDO:0036976 False hepatocellular adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018901 MONDO:0005453 False left ventricular noncompaction congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018902 MONDO:0036976 False hepatocellular adenoma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018904 MONDO:0002462 False primary membranoproliferative glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018907 MONDO:0000631 False craniopharyngioma bone benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018907 MONDO:0000631 False craniopharyngioma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018907 MONDO:0023369 False craniopharyngioma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018910 MONDO:0100118 False oculocutaneous albinism hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018911 MONDO:0017688 False maturity-onset diabetes of the young disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018912 MONDO:0002254 False Cushing syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018912 MONDO:0005495 False Cushing syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018913 MONDO:0005020 False malakoplakia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018911 MONDO:0017688 False maturity-onset diabetes of the young disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018912 MONDO:0002254 False Cushing syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018912 MONDO:0005495 False Cushing syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018913 MONDO:0005020 False malakoplakia intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018918 MONDO:0021385 False carcinoma of gallbladder and extrahepatic biliary tract extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018920 MONDO:0024575 False peripartum cardiomyopathy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018920 MONDO:0024575 False peripartum cardiomyopathy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0002320 False 22q11.2 deletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0005046 False 22q11.2 deletion syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018923 MONDO:0005267 False 22q11.2 deletion syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28956,43 +28980,43 @@ MONDO:0018923 MONDO:0015160 False 22q11.2 deletion syndrome multiple congenital MONDO:0018925 MONDO:0005475 False familial or sporadic hemiplegic migraine migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018926 MONDO:0005559 False human prion disease neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018926 MONDO:0024619 False human prion disease central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018927 MONDO:0002254 False SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018927 MONDO:0002254 False SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018930 MONDO:0700124 False monosomy 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018931 MONDO:0100122 False mucolipidosis type III, alpha/beta GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0003847 False Mazabraud syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0006424 False Mazabraud syndrome soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018937 MONDO:0002254 False mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018937 MONDO:0005381 False mucopolysaccharidosis type 3 bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018938 MONDO:0002254 False mucopolysaccharidosis type 4 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018938 MONDO:0005328 False mucopolysaccharidosis type 4 eye disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018938 MONDO:0005381 False mucopolysaccharidosis type 4 bone disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018940 MONDO:0002254 False congenital myasthenic syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018940 MONDO:0003847 False congenital myasthenic syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018943 MONDO:0002921 False myofibrillar myopathy congenital structural myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018944 MONDO:0024575 False gestational trophoblastic neoplasm pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018948 MONDO:0003847 False multiminicore myopathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018937 MONDO:0002254 False mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018937 MONDO:0005381 False mucopolysaccharidosis type 3 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018938 MONDO:0002254 False mucopolysaccharidosis type 4 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018938 MONDO:0005328 False mucopolysaccharidosis type 4 eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018938 MONDO:0005381 False mucopolysaccharidosis type 4 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018940 MONDO:0002254 False congenital myasthenic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018940 MONDO:0003847 False congenital myasthenic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018943 MONDO:0002921 False myofibrillar myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018944 MONDO:0024575 False gestational trophoblastic neoplasm pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018948 MONDO:0003847 False multiminicore myopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018952 MONDO:0029000 False argyria poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018954 MONDO:0005385 False Loeys-Dietz syndrome vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018955 MONDO:0005087 False recurrent respiratory papillomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018955 MONDO:0005586 False recurrent respiratory papillomatosis head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018955 MONDO:0024623 False recurrent respiratory papillomatosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018954 MONDO:0005385 False Loeys-Dietz syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0018955 MONDO:0005087 False recurrent respiratory papillomatosis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018955 MONDO:0005586 False recurrent respiratory papillomatosis head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018955 MONDO:0024623 False recurrent respiratory papillomatosis otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018956 MONDO:0004822 False idiopathic bronchiectasis bronchiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018956 MONDO:0700007 False idiopathic bronchiectasis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018957 MONDO:0021667 False pudendal neuralgia neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018958 MONDO:0002921 False nemaline myopathy congenital structural myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018958 MONDO:0002921 False nemaline myopathy congenital structural myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018959 MONDO:0700223 False potassium-aggravated myotonia hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018959 MONDO:0800468 False potassium-aggravated myotonia SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018960 MONDO:0005240 False congenital primary megaureter kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018960 MONDO:0021147 False congenital primary megaureter disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018961 MONDO:0003847 False familial melanoma hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018961 MONDO:0003847 False familial melanoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018962 MONDO:0004335 False common mesentery digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018963 MONDO:0001117 False hereditary methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018963 MONDO:0002280 False hereditary methemoglobinemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018963 MONDO:0001117 False hereditary methemoglobinemia methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018963 MONDO:0002280 False hereditary methemoglobinemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018964 MONDO:0004737 False homocystinuria without methylmalonic aciduria homocystinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018964 MONDO:0006025 False homocystinuria without methylmalonic aciduria autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018965 MONDO:0005334 False Alport syndrome hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018967 MONDO:0001902 False short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia congenital agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018969 MONDO:0002320 False craniorachischisis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018969 MONDO:0002320 False craniorachischisis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018969 MONDO:0021147 False craniorachischisis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018971 MONDO:0015337 False isolated oxycephaly isolated craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018973 MONDO:0020242 False patterned dystrophy of the retinal pigment epithelium hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29003,44 +29027,44 @@ MONDO:0018978 MONDO:0005087 False IgG4-related mediastinitis respiratory system MONDO:0018981 MONDO:0005579 False benign idiopathic neonatal seizures epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0001982 False Niemann-Pick disease type C Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0006025 False Niemann-Pick disease type C autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018983 MONDO:0002254 False Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018983 MONDO:0002254 False Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018983 MONDO:0015083 False Tolosa-Hunt syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018987 MONDO:0002263 False granulomatous mastitis female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018988 MONDO:0002254 False iridocorneal endothelial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018989 MONDO:0002356 False recurrent acute pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018988 MONDO:0002254 False iridocorneal endothelial syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018989 MONDO:0002356 False recurrent acute pancreatitis pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018989 MONDO:0020683 False recurrent acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018991 MONDO:0005154 False hepatoportal sclerosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018992 MONDO:0005623 False IgG4-related thyroid disease autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018994 MONDO:0000425 False Charcot-Marie-Tooth disease type X X-linked disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018994 MONDO:0000425 False Charcot-Marie-Tooth disease type X X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018997 MONDO:0015160 False Noonan syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018997 MONDO:0019313 False Noonan syndrome lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018998 MONDO:0002320 False Leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018997 MONDO:0019313 False Noonan syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0018998 MONDO:0002320 False Leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019000 MONDO:0005071 False perineural cyst nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019005 MONDO:0015962 False nephronophthisis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019005 MONDO:0015962 False nephronophthisis inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0002350 False familial idiopathic steroid-resistant nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019006 MONDO:0018170 False familial idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019006 MONDO:0018170 False familial idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019006 MONDO:0044765 False familial idiopathic steroid-resistant nephrotic syndrome steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019007 MONDO:0002263 False vaginal atresia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019007 MONDO:0021147 False vaginal atresia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019009 MONDO:0100283 False isolated focal cortical dysplasia overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0007834 False congenital isolated hyperinsulinism islet cell adenomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019010 MONDO:0019716 False congenital isolated hyperinsulinism overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0007834 False congenital isolated hyperinsulinism islet cell adenomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019010 MONDO:0019716 False congenital isolated hyperinsulinism overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019012 MONDO:0000078 False Carpenter syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019012 MONDO:0015160 False Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019013 MONDO:0006526 False non-histaminic angioedema allergic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019013 MONDO:0019623 False non-histaminic angioedema hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019013 MONDO:0019623 False non-histaminic angioedema hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019015 MONDO:0100298 False omphalocele abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019016 MONDO:0024458 False maternally-inherited progressive external ophthalmoplegia disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019017 MONDO:0002254 False short fifth metacarpals-insulin resistance syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019019 MONDO:0003847 False osteogenesis imperfecta hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019019 MONDO:0003847 False osteogenesis imperfecta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019020 MONDO:0002977 False PANDAS autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019022 MONDO:0005395 False sensorineural hearing loss-early graying-essential tremor syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019023 MONDO:0002300 False cutaneous mastocytosis dermis tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019023 MONDO:0005492 False cutaneous mastocytosis urticaria UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019023 MONDO:0002300 False cutaneous mastocytosis dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019023 MONDO:0005492 False cutaneous mastocytosis urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019023 MONDO:0100118 False cutaneous mastocytosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019024 MONDO:0000621 False mast cell sarcoma immune system cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019024 MONDO:0000621 False mast cell sarcoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019026 MONDO:0006025 False autosomal recessive osteopetrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019026 MONDO:0020249 False autosomal recessive osteopetrosis hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019026 MONDO:0020249 False autosomal recessive osteopetrosis hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019027 MONDO:0018233 False otopalatodigital syndrome otopalatodigital syndrome spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019028 MONDO:0005135 False amoebiasis due to Entamoeba histolytica parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019029 MONDO:0005497 False segmental odontomaxillary dysplasia bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29049,36 +29073,35 @@ MONDO:0019031 MONDO:0100089 False thrombocytopenia with congenital dyserythropoi MONDO:0019032 MONDO:0020119 False X-linked intellectual disability with isolated growth hormone deficiency X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019034 MONDO:0002356 False accessory pancreas pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019036 MONDO:0005135 False amoebiasis due to free-living amoebae parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019037 MONDO:0002254 False progressive supranuclear palsy syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019037 MONDO:0005559 False progressive supranuclear palsy neurodegenerative disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019037 MONDO:0002254 False progressive supranuclear palsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019040 MONDO:0700096 False chromosomal disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019046 MONDO:0024237 False leukodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019050 MONDO:0003847 False inherited hemoglobinopathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019046 MONDO:0024237 False leukodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019050 MONDO:0003847 False inherited hemoglobinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019050 MONDO:0044348 False inherited hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019053 MONDO:0015653 False peroxisomal disease monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019053 MONDO:0015653 False peroxisomal disease monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019053 MONDO:0100033 False peroxisomal disease metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019060 MONDO:0005381 False bone neoplasm bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019060 MONDO:0021581 False bone neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019065 MONDO:0021179 False amyloidosis proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019073 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019073 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome lymphatic malformation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019073 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia-renal defect syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0019074 MONDO:0020683 False bilateral acute depigmentation of the iris acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019075 MONDO:0011099 False Bosley-Salih-Alorainy syndrome human HOXA1 syndromes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019075 MONDO:0011099 False Bosley-Salih-Alorainy syndrome human HOXA1 syndromes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019075 MONDO:0015160 False Bosley-Salih-Alorainy syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019076 MONDO:0019287 False circumscribed palmoplantar hypokeratosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019078 MONDO:0002320 False Ritscher-Schinzel syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019076 MONDO:0019287 False circumscribed palmoplantar hypokeratosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019078 MONDO:0002320 False Ritscher-Schinzel syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019079 MONDO:0001516 False proximal spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019079 MONDO:0020127 False proximal spinal muscular atrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019083 MONDO:0009723 False Leigh syndrome with cardiomyopathy Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019079 MONDO:0020127 False proximal spinal muscular atrophy hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019083 MONDO:0009723 False Leigh syndrome with cardiomyopathy Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019084 MONDO:0005538 False radiation proctitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019085 MONDO:0005328 False vernal keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019087 MONDO:0018536 False cholangiocarcinoma adenocarcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019088 MONDO:0700220 False post-transplant lymphoproliferative disease disease related to transplantation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019087 MONDO:0018536 False cholangiocarcinoma adenocarcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019088 MONDO:0700220 False post-transplant lymphoproliferative disease disease related to transplantation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019091 MONDO:0021147 False bronchopulmonary dysplasia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019092 MONDO:0005087 False infantile apnea respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019093 MONDO:0021094 False immunodeficiency due to selective anti-polysaccharide antibody deficiency immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019094 MONDO:0005108 False congenital Epstein-Barr virus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019095 MONDO:0007023 False plague Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019095 MONDO:0007023 False plague Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019095 MONDO:0100120 False plague vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019098 MONDO:0002049 False autoimmune thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019098 MONDO:0007179 False autoimmune thrombocytopenia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29087,26 +29110,26 @@ MONDO:0019101 MONDO:0021231 False retinal capillary malformation retina neoplasm MONDO:0019101 MONDO:0024296 False retinal capillary malformation vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019102 MONDO:0021147 False dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019103 MONDO:0002254 False benign exophthalmos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019104 MONDO:0002254 False Sandifer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019104 MONDO:0005395 False Sandifer syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019104 MONDO:0002254 False Sandifer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019104 MONDO:0005395 False Sandifer syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019105 MONDO:0005240 False renal nutcracker syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019107 MONDO:0003689 False Rh deficiency syndrome familial hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019107 MONDO:0003689 False Rh deficiency syndrome familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019108 MONDO:0024623 False silent sinus syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019111 MONDO:0002249 False familial thrombocytosis thrombocytosis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019111 MONDO:0003847 False familial thrombocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019112 MONDO:0005283 False cancer-associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019114 MONDO:0005395 False psychogenic movement disorders movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019118 MONDO:0003847 False inherited retinal dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019118 MONDO:0004580 False inherited retinal dystrophy retinal degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019118 MONDO:0003847 False inherited retinal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019118 MONDO:0004580 False inherited retinal dystrophy retinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019118 MONDO:0024417 False inherited retinal dystrophy perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019121 MONDO:0005249 False pneumocystosis pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019121 MONDO:0005249 False pneumocystosis pneumonia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019121 MONDO:0005766 False pneumocystosis fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019121 MONDO:0005923 False pneumocystosis Pneumocystis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019122 MONDO:0004802 False idiopathic acute eosinophilic pneumonia pulmonary eosinophilia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019122 MONDO:0011895 False idiopathic acute eosinophilic pneumonia idiopathic hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019122 MONDO:0004802 False idiopathic acute eosinophilic pneumonia pulmonary eosinophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019122 MONDO:0011895 False idiopathic acute eosinophilic pneumonia idiopathic hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019122 MONDO:0020683 False idiopathic acute eosinophilic pneumonia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019123 MONDO:0009509 False continuous spikes and waves during sleep Landau-Kleffner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019124 MONDO:0043494 False microscopic polyangiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019123 MONDO:0009509 False continuous spikes and waves during sleep Landau-Kleffner syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019124 MONDO:0043494 False microscopic polyangiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019128 MONDO:0002263 False mullerian aplasia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019129 MONDO:0002254 False global developmental delay-osteopenia-ectodermal defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019130 MONDO:0002254 False tubular renal disease-cardiomyopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29118,7 +29141,7 @@ MONDO:0019140 MONDO:0029000 False acute ackee fruit intoxication poisoning UNSUP MONDO:0019142 MONDO:0037939 False inherited porphyria porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019144 MONDO:0100240 False hereditary thrombophilia due to congenital protein S deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019145 MONDO:0100240 False hereditary thrombophilia due to congenital protein C deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019154 MONDO:0003847 False androgen insensitivity syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019154 MONDO:0003847 False androgen insensitivity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019156 MONDO:0002254 False angioosteohypotrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019156 MONDO:0005497 False angioosteohypotrophic syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019157 MONDO:0700007 False myelodysplastic syndrome with ring sideroblasts idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29127,62 +29150,62 @@ MONDO:0019160 MONDO:0021095 False primary progressive freezing gait parkinsonian MONDO:0019161 MONDO:0100323 False pseudohypoaldosteronism type 1 inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019162 MONDO:0100323 False pseudohypoaldosteronism type 2 inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019164 MONDO:0002254 False 6q terminal deletion syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019165 MONDO:0000088 False central precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019165 MONDO:0003847 False central precocious puberty hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019167 MONDO:0800113 False immunoglobulin A vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019168 MONDO:0016127 False pyomyositis bacterial myositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0004069 False pyruvate dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019169 MONDO:0015653 False pyruvate dehydrogenase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019165 MONDO:0000088 False central precocious puberty precocious puberty UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019165 MONDO:0003847 False central precocious puberty hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019167 MONDO:0800113 False immunoglobulin A vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019168 MONDO:0016127 False pyomyositis bacterial myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019169 MONDO:0004069 False pyruvate dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019169 MONDO:0015653 False pyruvate dehydrogenase deficiency monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019169 MONDO:0100033 False pyruvate dehydrogenase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019170 MONDO:0043494 False polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019170 MONDO:0043494 False polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0002442 False familial long QT syndrome long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0003847 False familial long QT syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019172 MONDO:0021147 False aniridia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019175 MONDO:0019297 False primary lymphedema lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019180 MONDO:0001576 False hereditary hemorrhagic telangiectasia telangiectasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019175 MONDO:0019297 False primary lymphedema lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019180 MONDO:0001576 False hereditary hemorrhagic telangiectasia telangiectasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019181 MONDO:0100284 False non-syndromic X-linked intellectual disability X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0003847 False inherited obesity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0005151 False inherited obesity endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019182 MONDO:0011122 False inherited obesity obesity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019186 MONDO:0100120 False Q fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019187 MONDO:0002254 False Axenfeld-Rieger syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019187 MONDO:0002254 False Axenfeld-Rieger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019187 MONDO:0021635 False Axenfeld-Rieger syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0000508 False Rubinstein-Taybi syndrome syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0002320 False Rubinstein-Taybi syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019188 MONDO:0100172 False Rubinstein-Taybi syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019191 MONDO:0000587 False IgG4-related dacryoadenitis and sialadenitis autoimmune disease of ear, nose and throat UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019191 MONDO:0001854 False IgG4-related dacryoadenitis and sialadenitis lacrimal apparatus disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019191 MONDO:0018675 False IgG4-related dacryoadenitis and sialadenitis IgG4-related ophthalmic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019194 MONDO:0006573 False localized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019188 MONDO:0000508 False Rubinstein-Taybi syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019188 MONDO:0002320 False Rubinstein-Taybi syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019188 MONDO:0100172 False Rubinstein-Taybi syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0019191 MONDO:0000587 False IgG4-related dacryoadenitis and sialadenitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019191 MONDO:0001854 False IgG4-related dacryoadenitis and sialadenitis lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019191 MONDO:0018675 False IgG4-related dacryoadenitis and sialadenitis IgG4-related ophthalmic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019194 MONDO:0006573 False localized lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019195 MONDO:0011577 False hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome myopathy, proximal, and ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019196 MONDO:0001256 False Foix-Alajouanine syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019197 MONDO:0015653 False folinic acid-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019197 MONDO:0015653 False folinic acid-responsive seizures monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019197 MONDO:0100033 False folinic acid-responsive seizures metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019199 MONDO:0005093 False interstitial granulomatous dermatitis with arthritis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019199 MONDO:0005554 False interstitial granulomatous dermatitis with arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019200 MONDO:0019216 False retinitis pigmentosa inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019201 MONDO:0000995 False thyrotoxic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019200 MONDO:0019216 False retinitis pigmentosa inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019201 MONDO:0000995 False thyrotoxic periodic paralysis familial periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019203 MONDO:0020683 False acute interstitial pneumonia acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019206 MONDO:0019287 False sparse hair-short stature-skin anomalies syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019207 MONDO:0100164 False DEND syndrome permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019207 MONDO:0100164 False DEND syndrome permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019208 MONDO:0020068 False Bickerstaff brainstem encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019209 MONDO:0020601 False Japanese encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019210 MONDO:0005872 False cutaneous neuroendocrine carcinoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019209 MONDO:0020601 False Japanese encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019210 MONDO:0005872 False cutaneous neuroendocrine carcinoma nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019210 MONDO:0021635 False cutaneous neuroendocrine carcinoma neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019214 MONDO:0037792 False inborn carbohydrate metabolic disorder carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019216 MONDO:0004736 False inborn disorder of amino acid transport inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019218 MONDO:0019189 False inborn disorder of bile acid synthesis inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019218 MONDO:0019189 False inborn disorder of bile acid synthesis inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0045022 False inborn disorder of bile acid synthesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0045022 False inborn disorder of methionine cycle and sulfur amino acid metabolism disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0056803 False inborn disorder of methionine cycle and sulfur amino acid metabolism sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019225 MONDO:0002908 False disorder of gluconeogenesis glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019226 MONDO:0045015 False glucose transport disorder carbohydrate transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019228 MONDO:0037871 False inborn disorder of histidine metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019229 MONDO:0002525 False inborn disorder of ketolysis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019229 MONDO:0002525 False inborn disorder of ketolysis inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019232 MONDO:0100473 False inborn disorder of peptide metabolism disorder of peptide and amine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019233 MONDO:0100257 False disorder of peroxisomal beta oxidation peroxisomal single enzyme/protein defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0002254 False peroxisome biogenesis disorder syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019234 MONDO:0006025 False peroxisome biogenesis disorder autosomal recessive disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019234 MONDO:0002254 False peroxisome biogenesis disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019234 MONDO:0006025 False peroxisome biogenesis disorder autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019235 MONDO:0004736 False inborn disorder of phenylalanine and tyrosine metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019236 MONDO:0037829 False inborn disorder of purine metabolism purine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019237 MONDO:0005528 False inborn disorder of pyridoxine metabolism inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29190,10 +29213,10 @@ MONDO:0019238 MONDO:0037937 False inborn disorder of pyrimidine metabolism pyrim MONDO:0019239 MONDO:0037871 False inborn disorder of serine family metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019242 MONDO:0004736 False inborn disorder of branched-chain amino acid metabolism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019242 MONDO:0037871 False inborn disorder of branched-chain amino acid metabolism amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019245 MONDO:0002525 False lysosomal lipid storage disorder inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019249 MONDO:0019214 False mucopolysaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019245 MONDO:0002525 False lysosomal lipid storage disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019249 MONDO:0019214 False mucopolysaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019249 MONDO:0100365 False mucopolysaccharidosis mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019251 MONDO:0019214 False oligosaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019251 MONDO:0019214 False oligosaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019256 MONDO:0045012 False sterol metabolism disorder steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019263 MONDO:0001676 False autosomal erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019268 MONDO:0005093 False epidermal disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29204,85 +29227,85 @@ MONDO:0019276 MONDO:0100118 False inherited epidermolysis bullosa hereditary ski MONDO:0019278 MONDO:0002917 False hair anomaly disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019278 MONDO:0024481 False hair anomaly skin appendage disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019283 MONDO:0002884 False nail anomaly nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019284 MONDO:0003847 False inherited isolated nail anomaly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019284 MONDO:0003847 False inherited isolated nail anomaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019287 MONDO:0100118 False ectodermal dysplasia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019293 MONDO:0005385 False skin vascular disease vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019294 MONDO:0021154 False mixed dermis disorder dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019293 MONDO:0005385 False skin vascular disease vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019294 MONDO:0021154 False mixed dermis disorder dermis disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019296 MONDO:0002051 False subcutaneous tissue disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019303 MONDO:0700096 False premature aging syndrome human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019306 MONDO:0006025 False congenital non-bullous ichthyosiform erythroderma autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019307 MONDO:0009180 False generalized junctional epidermolysis bullosa non-Herlitz type junctional epidermolysis bullosa, non-Herlitz type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019310 MONDO:0009179 False recessive dystrophic epidermolysis bullosa inversa recessive dystrophic epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019310 MONDO:0009179 False recessive dystrophic epidermolysis bullosa inversa recessive dystrophic epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019311 MONDO:0008093 False wooly hair nevus nevus, epidermal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019313 MONDO:0003847 False lymphatic malformation hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019313 MONDO:0003847 False lymphatic malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019313 MONDO:0005385 False lymphatic malformation vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019313 MONDO:0019175 False lymphatic malformation primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019321 MONDO:0021147 False atypical Werner syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019322 MONDO:0008219 False pemphigus vegetans pemphigus vulgaris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019322 MONDO:0008219 False pemphigus vegetans pemphigus vulgaris UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019333 MONDO:0009734 False autosomal recessive hyperinsulinism due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019334 MONDO:0011153 False autosomal recessive hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019336 MONDO:0005328 False Gardner syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019337 MONDO:0006617 False autoimmune bullous skin disease vesiculobullous skin disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019337 MONDO:0007179 False autoimmune bullous skin disease autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019336 MONDO:0005328 False Gardner syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019337 MONDO:0006617 False autoimmune bullous skin disease vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019337 MONDO:0007179 False autoimmune bullous skin disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019339 MONDO:0700028 False 47,XYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019339 MONDO:0700065 False 47,XYY syndrome trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019340 MONDO:0007179 False scleroderma autoimmune disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019345 MONDO:0001517 False shigellosis dysentery UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019340 MONDO:0007179 False scleroderma autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019345 MONDO:0001517 False shigellosis dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019345 MONDO:0024634 False shigellosis large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019346 MONDO:0031422 False sialidosis type 1 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019349 MONDO:0015160 False Sotos syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019351 MONDO:0008449 False isolated spina bifida spina bifida UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019353 MONDO:0016420 False Stargardt disease familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019354 MONDO:0016761 False Stickler syndrome spondyloepiphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019354 MONDO:0016761 False Stickler syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019354 MONDO:0020248 False Stickler syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019355 MONDO:0019751 False adult-onset Still disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019355 MONDO:0019751 False adult-onset Still disease autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019357 MONDO:0002602 False congenital narrowing of cervical spinal canal central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019358 MONDO:0001176 False encephalopathy due to sulfite oxidase deficiency lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019365 MONDO:0600003 False scrub typhus bacterial hemorrhagic fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019367 MONDO:0002635 False regional odontodysplasia periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019368 MONDO:0006858 False florid cemento-osseous dysplasia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019368 MONDO:0006858 False florid cemento-osseous dysplasia mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019369 MONDO:0024317 False complex regional pain syndrome chronic pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019370 MONDO:0002263 False vulvovaginal gingival syndrome female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019371 MONDO:0005560 False narcolepsy without cataplexy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0001150 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019375 MONDO:0011348 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019375 MONDO:0011348 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019375 MONDO:0100283 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019376 MONDO:0002282 False West-Nile encephalitis West Nile fever UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019376 MONDO:0002282 False West-Nile encephalitis West Nile fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019376 MONDO:0020601 False West-Nile encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019377 MONDO:0005113 False Mycoplasma encephalitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019377 MONDO:0020067 False Mycoplasma encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019378 MONDO:0020601 False la Crosse encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019378 MONDO:0021641 False la Crosse encephalitis Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019380 MONDO:0005643 False western equine encephalitis Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019380 MONDO:0020601 False western equine encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019383 MONDO:0002562 False acute disseminated encephalomyelitis demyelinating disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019383 MONDO:0020068 False acute disseminated encephalomyelitis postinfectious encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019384 MONDO:0006009 False encephalitis lethargica viral encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019384 MONDO:0020068 False encephalitis lethargica postinfectious encephalitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019384 MONDO:0021095 False encephalitis lethargica parkinsonian disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019380 MONDO:0020601 False western equine encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019383 MONDO:0002562 False acute disseminated encephalomyelitis demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019383 MONDO:0020068 False acute disseminated encephalomyelitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019384 MONDO:0006009 False encephalitis lethargica viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019384 MONDO:0020068 False encephalitis lethargica postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019384 MONDO:0021095 False encephalitis lethargica parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019385 MONDO:0020068 False steroid-responsive encephalopathy associated with autoimmune thyroiditis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019385 MONDO:0100029 False steroid-responsive encephalopathy associated with autoimmune thyroiditis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019386 MONDO:0020648 False progressive rubella panencephalitis rubella encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0002254 False pelvis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0024296 False pelvis syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019390 MONDO:0002254 False Susac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019390 MONDO:0007179 False Susac syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0000577 False Fanconi anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0003225 False Fanconi anemia bone marrow disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0015327 False Fanconi anemia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0021190 False Fanconi anemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019391 MONDO:0100137 False Fanconi anemia telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019390 MONDO:0002254 False Susac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019390 MONDO:0007179 False Susac syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0000577 False Fanconi anemia congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0003225 False Fanconi anemia bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019391 MONDO:0015327 False Fanconi anemia developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0021190 False Fanconi anemia DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019391 MONDO:0100137 False Fanconi anemia telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019393 MONDO:0020598 False idiopathic malabsorption due to bile acid synthesis defects malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019393 MONDO:0700007 False idiopathic malabsorption due to bile acid synthesis defects idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019394 MONDO:0015962 False Senior-Boichis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019394 MONDO:0015962 False Senior-Boichis syndrome inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019395 MONDO:0006026 False Hinman syndrome urinary bladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019398 MONDO:0011271 False desmin-related myopathy with Mallory body-like inclusions rigid spine muscular dystrophy 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019401 MONDO:0018170 False sporadic idiopathic steroid-resistant nephrotic syndrome idiopathic nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019401 MONDO:0044765 False sporadic idiopathic steroid-resistant nephrotic syndrome steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019402 MONDO:0005151 False beta thalassemia endocrine system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019402 MONDO:0005151 False beta thalassemia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019407 MONDO:0800063 False microcephalic osteodysplastic dysplasia, Saul-Wilson type primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019409 MONDO:0005554 False idiopathic juvenile osteoporosis rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019409 MONDO:0023603 False idiopathic juvenile osteoporosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019409 MONDO:0005554 False idiopathic juvenile osteoporosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019409 MONDO:0023603 False idiopathic juvenile osteoporosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019409 MONDO:0700007 False idiopathic juvenile osteoporosis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019411 MONDO:0007653 False genochondromatosis type 1 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0002254 False ischio-vertebral syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29308,59 +29331,59 @@ MONDO:0019426 MONDO:0021147 False X-linked intellectual disability-corpus callos MONDO:0019428 MONDO:0020119 False fried syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019430 MONDO:0020119 False X-linked intellectual disability-ataxia-apraxia syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019431 MONDO:0005154 False primitive portal vein thrombosis liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019434 MONDO:0019751 False systemic-onset juvenile idiopathic arthritis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019436 MONDO:0011849 False psoriasis-related juvenile idiopathic arthritis psoriatic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0005071 False AL amyloidosis nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019438 MONDO:0006504 False AL amyloidosis acquired metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019439 MONDO:0005071 False AA amyloidosis nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019441 MONDO:0007100 False ATTRV122I amyloidosis familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019443 MONDO:0003847 False dextro-looped transposition of the great arteries hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019434 MONDO:0019751 False systemic-onset juvenile idiopathic arthritis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019436 MONDO:0011849 False psoriasis-related juvenile idiopathic arthritis psoriatic arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019438 MONDO:0005071 False AL amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019438 MONDO:0006504 False AL amyloidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019439 MONDO:0005071 False AA amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019441 MONDO:0007100 False ATTRV122I amyloidosis familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019443 MONDO:0003847 False dextro-looped transposition of the great arteries hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019444 MONDO:0005745 False trichinellosis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019445 MONDO:0021539 False trichofolliculoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019445 MONDO:0021539 False trichofolliculoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019448 MONDO:0000160 False benign adult familial myoclonic epilepsy epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019467 MONDO:0002898 False CD4+/CD56+ hematodermic neoplasm skin cancer UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019467 MONDO:0005170 False CD4+/CD56+ hematodermic neoplasm myeloid neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019468 MONDO:0000430 False T-cell prolymphocytic leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019468 MONDO:0003537 False T-cell prolymphocytic leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019468 MONDO:0003540 False T-cell prolymphocytic leukemia acute T cell leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019468 MONDO:0004963 False T-cell prolymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019469 MONDO:0000430 False T-cell large granular lymphocyte leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019470 MONDO:0000430 False aggressive NK-cell leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019470 MONDO:0003537 False aggressive NK-cell leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019470 MONDO:0004805 False aggressive NK-cell leukemia leukocyte disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019470 MONDO:0004963 False aggressive NK-cell leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019467 MONDO:0002898 False CD4+/CD56+ hematodermic neoplasm skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019467 MONDO:0005170 False CD4+/CD56+ hematodermic neoplasm myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019468 MONDO:0000430 False T-cell prolymphocytic leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019468 MONDO:0003537 False T-cell prolymphocytic leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019468 MONDO:0003540 False T-cell prolymphocytic leukemia acute T cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019468 MONDO:0004963 False T-cell prolymphocytic leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019469 MONDO:0000430 False T-cell large granular lymphocyte leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019470 MONDO:0000430 False aggressive NK-cell leukemia mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019470 MONDO:0003537 False aggressive NK-cell leukemia precursor T-lymphoblastic lymphoma/leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019470 MONDO:0004805 False aggressive NK-cell leukemia leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019470 MONDO:0004963 False aggressive NK-cell leukemia T-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0005525 False adult T-cell leukemia/lymphoma T-cell leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0005801 False adult T-cell leukemia/lymphoma human T-lymphotropic virus 1 infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019471 MONDO:0021184 False adult T-cell leukemia/lymphoma deltaretrovirus infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0000621 False subcutaneous panniculitis-like T-cell lymphoma immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0004805 False subcutaneous panniculitis-like T-cell lymphoma leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019475 MONDO:0100118 False subcutaneous panniculitis-like T-cell lymphoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019480 MONDO:0004380 False Langerhans cell sarcoma dendritic cell sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019480 MONDO:0004380 False Langerhans cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019484 MONDO:0005560 False hypothalamic hamartomas with gelastic seizures brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019485 MONDO:0005579 False idiopathic hemiconvulsion-hemiplegia syndrome epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019487 MONDO:0005395 False epilepsy with myoclonic absences movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019490 MONDO:0003847 False progressive familial heart block hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019490 MONDO:0003847 False progressive familial heart block hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019493 MONDO:0021209 False primary adult heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019494 MONDO:0021209 False primary pediatric heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019497 MONDO:0005365 False nonsyndromic genetic hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019497 MONDO:0037940 False nonsyndromic genetic hearing loss inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019498 MONDO:0100120 False tungiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019499 MONDO:0002254 False Turner syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019502 MONDO:0000509 False autosomal recessive non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019502 MONDO:0017706 False autosomal recessive non-syndromic intellectual disability disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019499 MONDO:0002254 False Turner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019502 MONDO:0000509 False autosomal recessive non-syndromic intellectual disability non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019502 MONDO:0017706 False autosomal recessive non-syndromic intellectual disability disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019503 MONDO:0021147 False anterior segment dysgenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019504 MONDO:0005328 False superior limbic keratoconjunctivitis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019506 MONDO:0002254 False obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019507 MONDO:0003847 False amelogenesis imperfecta hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019507 MONDO:0003847 False amelogenesis imperfecta hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019512 MONDO:0024239 False congenital heart malformation congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019516 MONDO:0020248 False exudative vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019518 MONDO:0018094 False Waardenburg-Shah syndrome Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019518 MONDO:0018094 False Waardenburg-Shah syndrome Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019518 MONDO:0021189 False Waardenburg-Shah syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019518 MONDO:0021635 False Waardenburg-Shah syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019521 MONDO:0006543 False centripetalis recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019525 MONDO:0030502 False tetrasomy X tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019525 MONDO:0700027 False tetrasomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019527 MONDO:0007179 False undifferentiated connective tissue syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019527 MONDO:0007179 False undifferentiated connective tissue syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019528 MONDO:0024477 False inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019529 MONDO:0002545 False radiation myelitis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019530 MONDO:0021002 False non-syndromic syndactyly syndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29369,7 +29392,7 @@ MONDO:0019531 MONDO:0040566 False hemolytic anemia due to glutathione reductase MONDO:0019536 MONDO:0003664 False Shiga toxin-associated hemolytic uremic syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019540 MONDO:0005087 False diffuse alveolar hemorrhage respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019542 MONDO:0020683 False acute liver failure acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019542 MONDO:0100192 False acute liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019542 MONDO:0100192 False acute liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019543 MONDO:0005099 False acquired aneurysmal subarachnoid hemorrhage subarachnoid hemorrhage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019544 MONDO:0029000 False cocaine intoxication poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019545 MONDO:0029000 False systemic monochloroacetate poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29380,17 +29403,17 @@ MONDO:0019550 MONDO:0015358 False hereditary motor and sensory neuropathy with a MONDO:0019551 MONDO:0015358 False hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019554 MONDO:0700007 False idiopathic localized lipodystrophy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019555 MONDO:0006591 False panniculitis and localized lipodystrophy panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019557 MONDO:0000603 False chilblain lupus autoimmune disorder of cardiovascular system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019561 MONDO:0006591 False lupus erythematosus panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019563 MONDO:0016358 False CREST syndrome limited cutaneous systemic sclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019565 MONDO:0002243 False hereditary von Willebrand disease hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019557 MONDO:0000603 False chilblain lupus autoimmune disorder of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019561 MONDO:0006591 False lupus erythematosus panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019563 MONDO:0016358 False CREST syndrome limited cutaneous systemic sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019565 MONDO:0002243 False hereditary von Willebrand disease hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019565 MONDO:0024574 False hereditary von Willebrand disease von Willebrand disease (hereditary or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019567 MONDO:0007522 False Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019568 MONDO:0007522 False Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019571 MONDO:0100237 False autosomal dominant cutis laxa inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019572 MONDO:0100237 False autosomal recessive cutis laxa type 1 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0006025 False autosomal recessive cutis laxa type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019573 MONDO:0015327 False autosomal recessive cutis laxa type 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019573 MONDO:0015327 False autosomal recessive cutis laxa type 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0100237 False autosomal recessive cutis laxa type 2 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0016297 False X-linked nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0016298 False X-linked nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29399,15 +29422,15 @@ MONDO:0019587 MONDO:0016297 False autosomal dominant nonsyndromic hearing loss p MONDO:0019587 MONDO:0016298 False autosomal dominant nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019588 MONDO:0016297 False hearing loss, autosomal recessive prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019588 MONDO:0016298 False hearing loss, autosomal recessive postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019591 MONDO:0013099 False panhypopituitarism combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019600 MONDO:0021190 False xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019591 MONDO:0013099 False panhypopituitarism combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019600 MONDO:0021190 False xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019603 MONDO:0015159 False osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019604 MONDO:0004960 False acquired monoclonal Ig light chain-associated Fanconi syndrome monoclonal gammopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019610 MONDO:0001770 False Zollinger-Ellison syndrome gastrin secretion abnormality UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019610 MONDO:0021058 False Zollinger-Ellison syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019610 MONDO:0001770 False Zollinger-Ellison syndrome gastrin secretion abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019610 MONDO:0021058 False Zollinger-Ellison syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019611 MONDO:0003837 False TSH-secreting pituitary adenoma TSH producing pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019613 MONDO:0003603 False non-functioning pituitary adenoma non-functioning pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019618 MONDO:0002254 False Sheehan syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019618 MONDO:0002254 False Sheehan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019620 MONDO:0003749 False congenital esophageal diverticulum esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019620 MONDO:0021147 False congenital esophageal diverticulum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019621 MONDO:0021166 False chronic pneumonitis of infancy inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29438,7 +29461,7 @@ MONDO:0019654 MONDO:0019006 False familial idiopathic steroid-resistant nephroti MONDO:0019655 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019656 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019666 MONDO:0000226 False spondyloepimetaphyseal dysplasia, PAPSS2 type mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019666 MONDO:0019052 False spondyloepimetaphyseal dysplasia, PAPSS2 type inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019666 MONDO:0019052 False spondyloepimetaphyseal dysplasia, PAPSS2 type inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019668 MONDO:0004972 False adenoma of pancreas adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019668 MONDO:0021040 False adenoma of pancreas pancreatic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019673 MONDO:0020927 False postaxial polydactyly type A postaxial polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29448,27 +29471,27 @@ MONDO:0019677 MONDO:0021004 False brachydactyly type E brachydactyly UNSUPPORTED MONDO:0019678 MONDO:0021004 False brachydactyly type A5 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019679 MONDO:0021004 False brachydactyly type A7 brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019680 MONDO:0007653 False genochondromatosis type 2 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019685 MONDO:0018230 False FGFR3-related chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019690 MONDO:0018230 False filamin-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019685 MONDO:0018230 False FGFR3-related chondrodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019690 MONDO:0018230 False filamin-related bone disorder skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019702 MONDO:0005516 False neonatal osteosclerotic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019713 MONDO:0018230 False non-syndromic limb reduction defect skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019713 MONDO:0018230 False non-syndromic limb reduction defect skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019716 MONDO:0021147 False overgrowth syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019719 MONDO:0100191 False congenital anomaly of kidney and urinary tract inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019722 MONDO:0005240 False glomerular disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019725 MONDO:0007915 False pediatric systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019734 MONDO:0019127 False juvenile polymyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019735 MONDO:0002254 False polymyalgia rheumatica syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019735 MONDO:0005554 False polymyalgia rheumatica rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019737 MONDO:0001531 False thrombotic microangiopathy blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019722 MONDO:0005240 False glomerular disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019725 MONDO:0007915 False pediatric systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019734 MONDO:0019127 False juvenile polymyositis polymyositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019735 MONDO:0002254 False polymyalgia rheumatica syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019735 MONDO:0005554 False polymyalgia rheumatica rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019737 MONDO:0001531 False thrombotic microangiopathy blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019738 MONDO:0009335 False atypical hemolytic-uremic syndrome with H factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019738 MONDO:0016244 False atypical hemolytic-uremic syndrome with H factor anomaly atypical hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019739 MONDO:0009335 False atypical hemolytic-uremic syndrome with anti-factor H antibodies hemolytic uremic syndrome, atypical, susceptibility to, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019740 MONDO:0001198 False acquired thrombotic thrombocytopenic purpura acquired thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019741 MONDO:0002473 False familial cystic renal disease cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019741 MONDO:0100191 False familial cystic renal disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019742 MONDO:0019232 False late-onset nephronophthisis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019751 MONDO:0002254 False autoinflammatory syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019751 MONDO:0005554 False autoinflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019742 MONDO:0019232 False late-onset nephronophthisis inborn disorder of peptide metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019751 MONDO:0002254 False autoinflammatory syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019751 MONDO:0005554 False autoinflammatory syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019752 MONDO:0015564 False pediatric Castleman disease Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019755 MONDO:0021147 False developmental defect during embryogenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019760 MONDO:0015167 False terminal transverse defects of arm amniotic band syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29476,30 +29499,30 @@ MONDO:0019770 MONDO:0016160 False X-linked dominant intellectual disability-epil MONDO:0019780 MONDO:0024623 False anotia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019782 MONDO:0001411 False humero-ulnar synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019787 MONDO:0000588 False autoimmune enteropathy autoimmune disorder of gastrointestinal tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019787 MONDO:0020598 False autoimmune enteropathy malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019787 MONDO:0020598 False autoimmune enteropathy malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019788 MONDO:0000448 False non-secreting paraganglioma paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019789 MONDO:0006591 False cytophagic histiocytic panniculitis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019790 MONDO:0002254 False neuroleptic malignant syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019790 MONDO:0002254 False neuroleptic malignant syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019795 MONDO:0021147 False acalvaria disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019796 MONDO:0015338 False acrocephalosyndactyly syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019796 MONDO:0019054 False acrocephalosyndactyly congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019797 MONDO:0018751 False acrodysostosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019799 MONDO:0008296 False hepatoerythropoietic porphyria familial porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019797 MONDO:0018751 False acrodysostosis hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019799 MONDO:0008296 False hepatoerythropoietic porphyria familial porphyria cutanea tarda UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019801 MONDO:0020683 False acute adrenal insufficiency acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019804 MONDO:0024623 False tracheomalacia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019805 MONDO:0005046 False twin to twin transfusion syndrome immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019806 MONDO:0005559 False primary progressive aphasia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019808 MONDO:0005453 False aortic valve atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019809 MONDO:0005648 False congenital aortic valve insufficiency aortic valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019804 MONDO:0024623 False tracheomalacia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019805 MONDO:0005046 False twin to twin transfusion syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019806 MONDO:0005559 False primary progressive aphasia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019808 MONDO:0005453 False aortic valve atresia congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019809 MONDO:0005648 False congenital aortic valve insufficiency aortic valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019809 MONDO:0021147 False congenital aortic valve insufficiency disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019828 MONDO:0002254 False pituitary stalk interruption syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019828 MONDO:0002254 False pituitary stalk interruption syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019829 MONDO:0005385 False congenital anomaly of superior vena cava vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019829 MONDO:0021147 False congenital anomaly of superior vena cava disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019830 MONDO:0005385 False congenital anomaly of the inferior vena cava vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019832 MONDO:0005152 False acquired pituitary hormone deficiency hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0000568 False primary hypophysitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019835 MONDO:0000569 False primary hypophysitis autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019835 MONDO:0021156 False primary hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019835 MONDO:0021156 False primary hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019836 MONDO:0005385 False congenital anomaly of hepatic vein vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019836 MONDO:0021147 False congenital anomaly of hepatic vein disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019838 MONDO:0024468 False adenohypophysitis anterior pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29511,7 +29534,7 @@ MONDO:0019849 MONDO:0021147 False isolated micropenis disorder of development or MONDO:0019851 MONDO:0005387 False acquired primary ovarian failure primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019852 MONDO:0003847 False inherited primary ovarian failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019852 MONDO:0005387 False inherited primary ovarian failure primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019852 MONDO:0015514 False inherited primary ovarian failure hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019852 MONDO:0015514 False inherited primary ovarian failure hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019854 MONDO:0009043 False thyroid ectopia generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019855 MONDO:0009043 False athyreosis generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019858 MONDO:0700007 False idiopathic congenital hypothyroidism idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29533,9 +29556,9 @@ MONDO:0019891 MONDO:0700026 False monosomy 22 chromosome 22 disorder UNSUPPORTED MONDO:0019896 MONDO:0027407 False Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019902 MONDO:0002254 False monosomy 13q34 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019903 MONDO:0700009 False ring chromosome 2 chromosome 2 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019903 MONDO:0700091 False ring chromosome 2 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019903 MONDO:0700091 False ring chromosome 2 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019904 MONDO:0700010 False ring chromosome 3 chromosome 3 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019904 MONDO:0700091 False ring chromosome 3 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019904 MONDO:0700091 False ring chromosome 3 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019905 MONDO:0700016 False ring chromosome 9 chromosome 9 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019905 MONDO:0700091 False ring chromosome 9 ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019906 MONDO:0700018 False ring chromosome 11 chromosome 11 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29583,10 +29606,10 @@ MONDO:0019926 MONDO:0700027 False X small rings chromosome X disorder UNSUPPORTE MONDO:0019926 MONDO:0700091 False X small rings ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019927 MONDO:0005626 False growth hormone-producing pituitary gland neoplasm epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019927 MONDO:0017611 False growth hormone-producing pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019928 MONDO:0002254 False 48,XXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019928 MONDO:0002254 False 48,XXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019928 MONDO:0030502 False 48,XXXY syndrome tetrasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019928 MONDO:0700027 False 48,XXXY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019929 MONDO:0002254 False 49,XXXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019929 MONDO:0002254 False 49,XXXXY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019929 MONDO:0700027 False 49,XXXXY syndrome chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019929 MONDO:0700085 False 49,XXXXY syndrome pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019930 MONDO:0009384 False Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29598,57 +29621,57 @@ MONDO:0019938 MONDO:0021147 False anorectal malformation disorder of development MONDO:0019939 MONDO:0005090 False early-onset schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019940 MONDO:0015161 False hypertrichosis-acromegaloid facial appearance syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019940 MONDO:0019280 False hypertrichosis-acromegaloid facial appearance syndrome hypertrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019942 MONDO:0003847 False distal arthrogryposis hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019942 MONDO:0003847 False distal arthrogryposis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019943 MONDO:0002254 False hereditary continuous muscle fiber activity syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019943 MONDO:0005336 False hereditary continuous muscle fiber activity myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019944 MONDO:0002254 False Eisenmenger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019944 MONDO:0002254 False Eisenmenger syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019945 MONDO:0005093 False solar urticaria skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019946 MONDO:0002314 False ligneous conjunctivitis chronic conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019947 MONDO:0020704 False rippling muscle disease 2 inherited rippling muscle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019949 MONDO:0100084 False zebra body myopathy alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019950 MONDO:0002320 False congenital muscular dystrophy congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019950 MONDO:0002320 False congenital muscular dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019952 MONDO:0700223 False congenital myopathy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019953 MONDO:0020134 False mega-cisterna magna cystic malformation of the posterior fossa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019956 MONDO:0005156 False encephalitis encephalomyelitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019956 MONDO:0005156 False encephalitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019956 MONDO:0020683 False encephalitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019963 MONDO:0002807 False bronchial endocrine tumor bronchial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019971 MONDO:0006424 False melanoma of soft tissue soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019972 MONDO:0001256 False dural sinus malformation arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019973 MONDO:0005283 False persistent placoid maculopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019975 MONDO:0005093 False pellagra skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019976 MONDO:0001627 False dementia pugilistica dementia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019975 MONDO:0005093 False pellagra skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019976 MONDO:0001627 False dementia pugilistica dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019977 MONDO:0001627 False parkinsonism with dementia of Guadeloupe dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019977 MONDO:0021095 False parkinsonism with dementia of Guadeloupe parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019978 MONDO:0015160 False Robinow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019983 MONDO:0021163 False multiloculated renal cyst kidney neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019986 MONDO:0019401 False sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy sporadic idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019991 MONDO:0002462 False immunotactoid glomerulopathy glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019991 MONDO:0002462 False immunotactoid glomerulopathy glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019993 MONDO:0005240 False congenital renal artery stenosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019993 MONDO:0005385 False congenital renal artery stenosis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019993 MONDO:0005385 False congenital renal artery stenosis vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019994 MONDO:0700020 False maternal uniparental disomy of chromosome 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019994 MONDO:0700086 False maternal uniparental disomy of chromosome 13 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019995 MONDO:0016412 False peripheral resistance to thyroid hormones peripheral hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020001 MONDO:0005087 False respiratory or thoracic malformation respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020010 MONDO:0005071 False infectious disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020010 MONDO:0005550 False infectious disorder of the nervous system infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020022 MONDO:0005071 False central nervous system malformation nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020010 MONDO:0005071 False infectious disorder of the nervous system nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020010 MONDO:0005550 False infectious disorder of the nervous system infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020022 MONDO:0005071 False central nervous system malformation nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020048 MONDO:0005385 False internal carotid agenesis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020066 MONDO:0002254 False Ehlers-Danlos syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020066 MONDO:0003847 False Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020067 MONDO:0019956 False infectious encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020067 MONDO:0024619 False infectious encephalitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020066 MONDO:0002254 False Ehlers-Danlos syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020066 MONDO:0003847 False Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020067 MONDO:0019956 False infectious encephalitis encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020067 MONDO:0024619 False infectious encephalitis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020068 MONDO:0020067 False postinfectious encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020068 MONDO:0021669 False postinfectious encephalitis post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020074 MONDO:0015653 False progressive myoclonus epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020074 MONDO:0015653 False progressive myoclonus epilepsy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0006573 False hereditary lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020087 MONDO:0019052 False hereditary lipodystrophy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020087 MONDO:0019052 False hereditary lipodystrophy inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020087 MONDO:0100118 False hereditary lipodystrophy hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020088 MONDO:0021106 False familial partial lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020088 MONDO:0021106 False familial partial lipodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020089 MONDO:0006504 False acquired lipodystrophy acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020089 MONDO:0006573 False acquired lipodystrophy lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020099 MONDO:0003847 False inherited sideroblastic anemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020102 MONDO:0003664 False hereditary stomatocytosis hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020110 MONDO:0005087 False pulmonary agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020110 MONDO:0005087 False pulmonary agenesis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020110 MONDO:0021147 False pulmonary agenesis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020112 MONDO:0001700 False vitamin B12- and folate-independent constitutional megaloblastic anemia megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020117 MONDO:0100241 False alpha granule disease inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29657,14 +29680,14 @@ MONDO:0020120 MONDO:0003939 False skeletal muscle disorder muscle tissue disorde MONDO:0020121 MONDO:0700223 False muscular dystrophy hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020122 MONDO:0600023 False acquired idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020122 MONDO:0700007 False acquired idiopathic inflammatory myopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020123 MONDO:0005336 False metabolic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020123 MONDO:0005336 False metabolic myopathy myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020124 MONDO:0021017 False neuromuscular junction disease synaptopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020127 MONDO:0003847 False hereditary peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020127 MONDO:0005244 False hereditary peripheral neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020134 MONDO:0020022 False cystic malformation of the posterior fossa central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020135 MONDO:0003847 False pontocerebellar hypoplasia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020143 MONDO:0019245 False cerebral lipidosis with dementia lysosomal lipid storage disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020153 MONDO:0003382 False cryptophthalmia eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020135 MONDO:0003847 False pontocerebellar hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020143 MONDO:0019245 False cerebral lipidosis with dementia lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020153 MONDO:0003382 False cryptophthalmia eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020159 MONDO:0001519 False congenital entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020161 MONDO:0002043 False congenital ectropion ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020172 MONDO:0002235 False palpebral epidermal tumor eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29674,7 +29697,7 @@ MONDO:0020175 MONDO:0020172 False malignant tumor of palpebral epidermis palpebr MONDO:0020175 MONDO:0021313 False malignant tumor of palpebral epidermis eyelid cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020179 MONDO:0020173 False palpebral nevus benign tumor of palpebral epidermis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020183 MONDO:0002235 False neurogenic palpebral tumor eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020242 MONDO:0019118 False hereditary macular dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020242 MONDO:0019118 False hereditary macular dystrophy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020246 MONDO:0003847 False inherited vitreoretinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020246 MONDO:0005283 False inherited vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020247 MONDO:0002320 False congenital vitreoretinal dysplasia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29685,15 +29708,15 @@ MONDO:0020248 MONDO:0024237 False vitreoretinal degeneration inherited neurodege MONDO:0020249 MONDO:0005328 False hereditary optic neuropathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020250 MONDO:0000426 False autosomal dominant optic atrophy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020250 MONDO:0004884 False autosomal dominant optic atrophy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020250 MONDO:0043878 False autosomal dominant optic atrophy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020257 MONDO:0001309 False supranuclear oculomotor palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020283 MONDO:0021166 False uveitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020250 MONDO:0043878 False autosomal dominant optic atrophy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020257 MONDO:0001309 False supranuclear oculomotor palsy oculomotor nerve paralysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020283 MONDO:0021166 False uveitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020289 MONDO:0000471 False congenital tricuspid malformation tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020289 MONDO:0021147 False congenital tricuspid malformation disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020290 MONDO:0003847 False familial atrioventricular septal defect hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020291 MONDO:0002254 False hypoplastic right heart syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020295 MONDO:0005453 False congenital pulmonary veins anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020296 MONDO:0024239 False congenital arteriovenous fistula congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020290 MONDO:0003847 False familial atrioventricular septal defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020291 MONDO:0002254 False hypoplastic right heart syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020295 MONDO:0005453 False congenital pulmonary veins anomaly congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020296 MONDO:0024239 False congenital arteriovenous fistula congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020297 MONDO:0021147 False Noonan syndrome and Noonan-related syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020297 MONDO:0024573 False Noonan syndrome and Noonan-related syndrome familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020298 MONDO:0700022 False Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29701,12 +29724,12 @@ MONDO:0020298 MONDO:0700086 False Prader-Willi syndrome due to maternal uniparen MONDO:0020303 MONDO:0700022 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 chromosome 15 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020303 MONDO:0700086 False Angelman syndrome due to paternal uniparental disomy of chromosome 15 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020310 MONDO:0100036 False familial focal epilepsy with variable foci variable age onset epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020322 MONDO:0004967 False acute biphenotypic leukemia acute lymphoblastic leukemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020322 MONDO:0017814 False acute biphenotypic leukemia primary bone lymphoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020322 MONDO:0004967 False acute biphenotypic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020322 MONDO:0017814 False acute biphenotypic leukemia primary bone lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020336 MONDO:0000426 False autosomal dominant Emery-Dreifuss muscular dystrophy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020337 MONDO:0000577 False congenital dyserythropoietic anemia type 1 congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020338 MONDO:0001705 False adult pure red cell aplasia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020341 MONDO:0003847 False periventricular nodular heterotopia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020338 MONDO:0001705 False adult pure red cell aplasia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020341 MONDO:0003847 False periventricular nodular heterotopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020344 MONDO:0002320 False postsynaptic congenital myasthenic syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020347 MONDO:0020683 False acute inflammatory demyelinating polyradiculoneuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020348 MONDO:0020683 False acute motor and sensory axonal neuropathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29716,19 +29739,19 @@ MONDO:0020352 MONDO:0021095 False multiple system atrophy, parkinsonian type par MONDO:0020354 MONDO:0007350 False coloboma of choroid and retina coloboma, ocular, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020355 MONDO:0001476 False coloboma of eye lens coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020356 MONDO:0007350 False coloboma of iris coloboma, ocular, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020357 MONDO:0001476 False coloboma of eyelid coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020364 MONDO:0000766 False posterior polymorphous corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020364 MONDO:0003847 False posterior polymorphous corneal dystrophy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020357 MONDO:0001476 False coloboma of eyelid coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020364 MONDO:0000766 False posterior polymorphous corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020364 MONDO:0003847 False posterior polymorphous corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020366 MONDO:0018174 False congenital glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020368 MONDO:0005328 False Axenfeld anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020378 MONDO:0013411 False early-onset posterior polar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020380 MONDO:0022687 False autosomal dominant cerebellar ataxia cerebellar degeneration UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020380 MONDO:0022687 False autosomal dominant cerebellar ataxia cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020380 MONDO:0100310 False autosomal dominant cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020381 MONDO:0018973 False patterned macular dystrophy patterned dystrophy of the retinal pigment epithelium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020384 MONDO:0001982 False Niemann-Pick disease type E Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0005852 False congenital mitral stenosis mitral valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020398 MONDO:0042966 False congenital mitral stenosis inherited mitral valve disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020404 MONDO:0002254 False shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020404 MONDO:0002254 False shone complex syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020435 MONDO:0002254 False atrial septal defect, coronary sinus type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0005385 False coronary sinus stenosis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020446 MONDO:0021147 False coronary sinus stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29737,16 +29760,16 @@ MONDO:0020447 MONDO:0021147 False coronary sinus atresia disorder of development MONDO:0020457 MONDO:0003664 False 6-phosphogluconate dehydrogenase deficiency hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020458 MONDO:0003689 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020458 MONDO:0020584 False hemolytic anemia due to erythrocyte adenosine deaminase overproduction anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020460 MONDO:0002243 False acquired von willebrand syndrome hemorrhagic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020460 MONDO:0002243 False acquired von willebrand syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020460 MONDO:0020599 False acquired von willebrand syndrome acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020460 MONDO:0024574 False acquired von willebrand syndrome von Willebrand disease (hereditary or acquired) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020461 MONDO:0003382 False epiblepharon eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020462 MONDO:0020159 False tarsal kink syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020464 MONDO:0020161 False euryblepharon congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020464 MONDO:0020161 False euryblepharon congenital ectropion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020465 MONDO:0003382 False congenital eyelid retraction eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020466 MONDO:0020639 False monosomy X monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020466 MONDO:0700027 False monosomy X chromosome X disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020467 MONDO:0020466 False mosaic monosomy X monosomy X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020467 MONDO:0020466 False mosaic monosomy X monosomy X UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020468 MONDO:0700020 False paternal uniparental disomy of chromosome 13 chromosome 13 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020468 MONDO:0700086 False paternal uniparental disomy of chromosome 13 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020469 MONDO:0002254 False 48,XYYY syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29762,139 +29785,139 @@ MONDO:0020485 MONDO:0015160 False King-Denborough syndrome multiple congenital a MONDO:0020485 MONDO:0100150 False King-Denborough syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020490 MONDO:0700016 False mosaic trisomy 9 chromosome 9 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020490 MONDO:0700065 False mosaic trisomy 9 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020491 MONDO:0002254 False subcortical band heterotopia syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020491 MONDO:0002254 False subcortical band heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020492 MONDO:0100283 False hemimegalencephaly overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020493 MONDO:0021189 False Haddad syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020495 MONDO:0003847 False PEHO-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020495 MONDO:0005071 False PEHO-like syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020496 MONDO:0003847 False familial porencephaly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020496 MONDO:0011057 False familial porencephaly cerebrovascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020496 MONDO:0003847 False familial porencephaly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020496 MONDO:0011057 False familial porencephaly cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020499 MONDO:0005785 False Nipah virus disease henipavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020500 MONDO:0005762 False Marburg hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020501 MONDO:0100120 False Crimean-Congo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0005763 False yellow fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0100120 False yellow fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020510 MONDO:0700007 False idiopathic syringomyelia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020511 MONDO:0017595 False precursor B-cell acute lymphoblastic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020516 MONDO:0002120 False thymic neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020516 MONDO:0019964 False thymic neuroendocrine carcinoma thymic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020517 MONDO:0005087 False eosinophilic granuloma respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020511 MONDO:0017595 False precursor B-cell acute lymphoblastic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020516 MONDO:0002120 False thymic neuroendocrine carcinoma neuroendocrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020516 MONDO:0019964 False thymic neuroendocrine carcinoma thymic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020517 MONDO:0005087 False eosinophilic granuloma respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020518 MONDO:0017025 False Hashimoto-Pritzker syndrome Langerhans cell histiocytosis specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020520 MONDO:0017029 False adult pulmonary Langerhans cell histiocytosis Langerhans cell histiocytosis specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020520 MONDO:0020517 False adult pulmonary Langerhans cell histiocytosis eosinophilic granuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020520 MONDO:0017029 False adult pulmonary Langerhans cell histiocytosis Langerhans cell histiocytosis specific to adulthood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020520 MONDO:0020517 False adult pulmonary Langerhans cell histiocytosis eosinophilic granuloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020521 MONDO:0007525 False Ehlers-Danlos syndrome type 7A Ehlers-Danlos syndrome, arthrochalasis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020522 MONDO:0007525 False Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome, arthrochalasis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020523 MONDO:0003847 False familial parathyroid adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020523 MONDO:0006890 False familial parathyroid adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020529 MONDO:0018912 False ACTH-independent Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020529 MONDO:0018912 False ACTH-independent Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020531 MONDO:0017713 False long chain acyl-CoA dehydrogenase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020531 MONDO:0024573 False long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020531 MONDO:0024573 False long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020533 MONDO:0001667 False streptobacillary rat-bite fever streptobacillus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020539 MONDO:0021656 False extragonadal non-dysgerminomatous germ cell tumor nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020541 MONDO:0021069 False maligant granulosa cell tumor of ovary malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020541 MONDO:0021069 False maligant granulosa cell tumor of ovary malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020542 MONDO:0036595 False malignant Sertoli-Leydig cell tumor of ovary ovarian Sertoli-Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020544 MONDO:0021680 False streptococcal toxic-shock syndrome streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020546 MONDO:0020683 False acute graft versus host disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020548 MONDO:0005328 False ocular pemphigoid eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020550 MONDO:0003578 False gestational choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020559 MONDO:0011224 False O'Sullivan-McLeod syndrome monomelic amyotrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020560 MONDO:0002217 False atypical teratoid rhabdoid tumor central nervous system sarcoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020567 MONDO:0019092 False apnea of prematurity infantile apnea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020569 MONDO:0019207 False intermediate DEND syndrome DEND syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020572 MONDO:0002254 False complex regional pain syndrome type 2 syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020550 MONDO:0003578 False gestational choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020559 MONDO:0011224 False O'Sullivan-McLeod syndrome monomelic amyotrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020560 MONDO:0002217 False atypical teratoid rhabdoid tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020567 MONDO:0019092 False apnea of prematurity infantile apnea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020569 MONDO:0019207 False intermediate DEND syndrome DEND syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020572 MONDO:0002254 False complex regional pain syndrome type 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020573 MONDO:0042489 False inherited disease susceptibility disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020574 MONDO:0020539 False central nervous system nongerminomatous germ cell tumor extragonadal non-dysgerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020575 MONDO:0005477 False polymorphic ventricular tachycardia ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020576 MONDO:0002406 False cutaneous vasculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020576 MONDO:0018882 False cutaneous vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020575 MONDO:0005477 False polymorphic ventricular tachycardia ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020576 MONDO:0002406 False cutaneous vasculitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020576 MONDO:0018882 False cutaneous vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020577 MONDO:0018202 False childhood gonadal germ cell tumor gonadal germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020579 MONDO:0021166 False mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020579 MONDO:0021166 False mucositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020582 MONDO:0000636 False benign uterine ligament neoplasm musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020582 MONDO:0000644 False benign uterine ligament neoplasm cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020584 MONDO:0002280 False anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020585 MONDO:0020584 False anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020586 MONDO:0002242 False factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020587 MONDO:0018660 False factor XI deficiency hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020590 MONDO:0005113 False mycobacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020592 MONDO:0005087 False disorder of pharynx respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020592 MONDO:0024623 False disorder of pharynx otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020594 MONDO:0003569 False abducens nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020594 MONDO:0003620 False abducens nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020596 MONDO:0024338 False mucin-producing carcinoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020597 MONDO:0003951 False angiokeratoma of scrotum scrotal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020582 MONDO:0000644 False benign uterine ligament neoplasm cervical benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020584 MONDO:0002280 False anemia due to enzyme disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020585 MONDO:0020584 False anemia due to erythrocyte enzyme disorder anemia due to enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020586 MONDO:0002242 False factor V deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020587 MONDO:0018660 False factor XI deficiency hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020590 MONDO:0005113 False mycobacterial infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020592 MONDO:0005087 False disorder of pharynx respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020592 MONDO:0024623 False disorder of pharynx otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020594 MONDO:0003569 False abducens nerve disorder cranial nerve neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020594 MONDO:0003620 False abducens nerve disorder peripheral nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020596 MONDO:0024338 False mucin-producing carcinoma mucinous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020597 MONDO:0003951 False angiokeratoma of scrotum scrotal hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020597 MONDO:0003954 False angiokeratoma of scrotum angiokeratoma of Fordyce UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020598 MONDO:0005020 False malabsorption syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020599 MONDO:0002242 False acquired coagulation factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020600 MONDO:0002258 False acute pharyngitis pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020598 MONDO:0005020 False malabsorption syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020599 MONDO:0002242 False acquired coagulation factor deficiency coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020600 MONDO:0002258 False acute pharyngitis pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020600 MONDO:0020683 False acute pharyngitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020601 MONDO:0006009 False mosquito-borne viral encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020601 MONDO:0006009 False mosquito-borne viral encephalitis viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020601 MONDO:0100120 False mosquito-borne viral encephalitis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020602 MONDO:0010731 False Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020603 MONDO:0010556 False X-linked chondrodysplasia punctata 2 X-linked chondrodysplasia punctata UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020603 MONDO:0010556 False X-linked chondrodysplasia punctata 2 X-linked chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020603 MONDO:0100118 False X-linked chondrodysplasia punctata 2 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020606 MONDO:0003847 False sex-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020627 MONDO:0015650 False epileptic encephalopathy, infantile or early childhood epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020627 MONDO:0015653 False epileptic encephalopathy, infantile or early childhood monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020628 MONDO:0006025 False microcephaly, growth restriction, and increased sister chromatid exchange 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020629 MONDO:0003847 False microcephaly, growth restriction and increased sister chromatid exchange hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020630 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 1 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020631 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 2 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020632 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 3 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020635 MONDO:0020665 False anaplastic meningioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020630 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 1 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0020631 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 2 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0020632 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 3 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0020635 MONDO:0020665 False anaplastic meningioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020639 MONDO:0700064 False monosomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020640 MONDO:0000568 False autoimmune encephalitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020642 MONDO:0019741 False polycystic kidney disease familial cystic renal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020645 MONDO:0000426 False autosomal dominant osteopetrosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020645 MONDO:0017198 False autosomal dominant osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020645 MONDO:0017198 False autosomal dominant osteopetrosis osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020646 MONDO:0000462 False ocular adnexal lymphoma eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020646 MONDO:0005586 False ocular adnexal lymphoma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020646 MONDO:0005586 False ocular adnexal lymphoma head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020647 MONDO:0003847 False microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0020068 False rubella encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020648 MONDO:0021674 False rubella encephalitis post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020649 MONDO:0004433 False warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020655 MONDO:0005306 False juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020649 MONDO:0004433 False warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020655 MONDO:0005306 False juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020657 MONDO:0017341 False human papillomavirus-related squamous cell carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020658 MONDO:0004010 False infiltrating ureter transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020659 MONDO:0020654 False upper tract urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020663 MONDO:0004992 False malignant spindle cell neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020663 MONDO:0004992 False malignant spindle cell neoplasm cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020666 MONDO:0019338 False Löfgren syndrome sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0000376 False paranasal sinus cancer respiratory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0000649 False paranasal sinus cancer sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020669 MONDO:0002132 False paranasal sinus cancer skull cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020673 MONDO:0000473 False arterial occlusion arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020673 MONDO:0000473 False arterial occlusion arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020673 MONDO:0020672 False arterial occlusion vascular occlusion disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020674 MONDO:0005385 False vascular insufficiency disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020675 MONDO:0005020 False ischemic bowel disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020675 MONDO:0005053 False ischemic bowel disorder ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020675 MONDO:0005020 False ischemic bowel disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020675 MONDO:0005053 False ischemic bowel disorder ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020677 MONDO:0005365 False sudden hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020677 MONDO:0020683 False sudden hearing loss disorder acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020678 MONDO:0005365 False sensorineural hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020679 MONDO:0005365 False conductive hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020680 MONDO:0002465 False acute bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020678 MONDO:0005365 False sensorineural hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020679 MONDO:0005365 False conductive hearing loss disorder hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020680 MONDO:0002465 False acute bronchiolitis bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020680 MONDO:0020683 False acute bronchiolitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020681 MONDO:0011142 False Ehlers-Danlos syndrome, musculocontractural type 1 Ehlers-Danlos syndrome, musculocontractural type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020682 MONDO:0007526 False Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020682 MONDO:0007526 False Ehlers-Danlos syndrome, spondylodysplastic type, 1 Ehlers-Danlos syndrome, spondylodysplastic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020682 MONDO:0800064 False Ehlers-Danlos syndrome, spondylodysplastic type, 1 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020683 MONDO:0700096 False acute disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020684 MONDO:0007527 False Ehlers-Danlos syndrome, periodontal type 1 Ehlers-Danlos syndrome, periodontitis type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020685 MONDO:0004245 False infratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020686 MONDO:0001039 False acute tonsillitis tonsillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020685 MONDO:0004245 False infratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020686 MONDO:0001039 False acute tonsillitis tonsillitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020686 MONDO:0020683 False acute tonsillitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020687 MONDO:0004245 False supratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020687 MONDO:0004245 False supratentorial ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020688 MONDO:0005098 False spinal cord ischemia stroke disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020689 MONDO:0001627 False AIDS dementia complex dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020689 MONDO:0001627 False AIDS dementia complex dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020689 MONDO:0021674 False AIDS dementia complex post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020692 MONDO:0010180 False spondylocostal dysostosis 1, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020693 MONDO:0005154 False glycogen storage disease due to liver phosphorylase kinase deficiency liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020695 MONDO:0006497 False hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020696 MONDO:0005066 False vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020696 MONDO:0042976 False vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020703 MONDO:0020076 False erythroid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020695 MONDO:0006497 False hypotonic cerebral palsy cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020696 MONDO:0005066 False vitamin B12 deficiency metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020696 MONDO:0042976 False vitamin B12 deficiency vitamin B deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020703 MONDO:0020076 False erythroid neoplasm myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020705 MONDO:0020573 False neural tube defects, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020706 MONDO:0002181 False Heberden's node exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020707 MONDO:0005365 False central hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020708 MONDO:0005559 False brachial amyotrophic diplegia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020710 MONDO:0021166 False amnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020706 MONDO:0002181 False Heberden's node exostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020707 MONDO:0005365 False central hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020708 MONDO:0005559 False brachial amyotrophic diplegia neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020710 MONDO:0021166 False amnionitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020710 MONDO:0045013 False amnionitis disorder of extraembryonic membrane UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020714 MONDO:0009637 False mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020715 MONDO:0020573 False multiple system atrophy 1, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29906,36 +29929,36 @@ MONDO:0020720 MONDO:0000425 False X-linked hypophosphatemic rickets X-linked dis MONDO:0020722 MONDO:0020573 False nephrolithiasis susceptibility caused by SLC26A1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020723 MONDO:0009924 False vitamin D-dependent rickets, type 1A vitamin D-dependent rickets, type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020723 MONDO:0800096 False vitamin D-dependent rickets, type 1A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020725 MONDO:0002280 False anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020727 MONDO:0014471 False combined oxidative phosphorylation deficiency 22 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020725 MONDO:0002280 False anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020727 MONDO:0014471 False combined oxidative phosphorylation deficiency 22 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0020728 MONDO:0009071 False hypouricemia, renal 1 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020729 MONDO:0011096 False autosomal recessive agammaglobulinemia 1 autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020731 MONDO:0005108 False arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020731 MONDO:0005108 False arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020731 MONDO:0100120 False arbovirus infection vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020732 MONDO:0003847 False progeria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020732 MONDO:0015333 False progeria progeroid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020733 MONDO:0100521 False proximal symphalangism 1A NOG-related symphalangism spectrum disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020735 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 1 hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020735 MONDO:0003847 False ACTH-independent macronodular adrenal hyperplasia 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020736 MONDO:0003847 False uncombable hair syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020736 MONDO:0008621 False uncombable hair syndrome 1 uncombable hair syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020738 MONDO:0100118 False multiple benign circumferential skin creases on limbs 1 hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020740 MONDO:0100162 False ectodermal dysplasia and immunodeficiency 1 IKBKG-related immunodeficiency with or without ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020741 MONDO:0009945 False pyridoxine-dependent epilepsy caused by ALDH7A1 mutant pyridoxine-dependent epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020744 MONDO:0000467 False Mobitz type I atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020744 MONDO:0000467 False Mobitz type I atrioventricular block second-degree atrioventricular block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0000426 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020745 MONDO:0007263 False ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020746 MONDO:0009926 False contractures, pterygia, and variable skeletal fusions syndrome 1B autosomal recessive multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020746 MONDO:0009926 False contractures, pterygia, and variable skeletal fusions syndrome 1B autosomal recessive multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0020753 MONDO:0005718 False Orthocoronavirinae infectious disease Coronaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020754 MONDO:0005020 False visceral myopathy 1 intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020756 MONDO:0100254 False migraine, familial hemiplegic, 1 CACNA1A-related complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020757 MONDO:0018925 False sporadic hemiplegic migraine familial or sporadic hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020759 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020764 MONDO:0700101 False Brown-Pearce carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020767 MONDO:0005693 False cauda equina syndrome with neurogenic bladder cauda equina syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020767 MONDO:0005693 False cauda equina syndrome with neurogenic bladder cauda equina syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0000425 False X-linked deafness X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0005365 False X-linked deafness hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020768 MONDO:0037940 False X-linked deafness inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020771 MONDO:0015244 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020771 MONDO:0015244 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0020771 MONDO:0021190 False spinocerebellar ataxia, autosomal recessive, with axonal neuropathy DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020772 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020773 MONDO:0043327 False cerebrospinal fluid rhinorrhea cerebrospinal fluid leak UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29944,13 +29967,13 @@ MONDO:0020776 MONDO:0021678 False chlamydiaceae infections gram-negative bacteri MONDO:0020779 MONDO:0005172 False cartilage development disorder skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020779 MONDO:0021147 False cartilage development disorder disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020781 MONDO:0006025 False encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020782 MONDO:0002508 False chronic gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020782 MONDO:0002508 False chronic gingivitis gingivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020785 MONDO:0700080 False capillary malformation-arteriovenous malformation 2 EPHB4-associated vascular malformation spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020792 MONDO:0003847 False dwarfism with tall vertebrae hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020797 MONDO:0002570 False decompression sickness high pressure neurological syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020800 MONDO:0002562 False demyelinating disease of central nervous system demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020805 MONDO:0020799 False benign basal cell neoplasm basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020805 MONDO:0036976 False benign basal cell neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020800 MONDO:0002562 False demyelinating disease of central nervous system demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020805 MONDO:0020799 False benign basal cell neoplasm basal cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020805 MONDO:0036976 False benign basal cell neoplasm benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020806 MONDO:0000992 False sinoatrial block heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020809 MONDO:0024988 False benign sertoli cell tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020811 MONDO:0015448 False mitochondrial complex III deficiency, nuclear type mitochondrial complex III deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29967,22 +29990,22 @@ MONDO:0020831 MONDO:0005267 False congenital vertebral-cardiac-renal anomalies s MONDO:0020831 MONDO:0006025 False congenital vertebral-cardiac-renal anomalies syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020835 MONDO:0018963 False methemoglobinemia, alpha type hereditary methemoglobinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020836 MONDO:0020573 False autism, susceptiblity to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020838 MONDO:0005504 False anterior nasal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020838 MONDO:0005504 False anterior nasal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020840 MONDO:0003847 False pulmonary alveolar proteinosis with hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020841 MONDO:0100500 False neurodevelopmental disorder with cerebellar atrophy and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020843 MONDO:0001217 False pseudomembranous diphtheritic conjunctivitis pseudomembranous conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020843 MONDO:0005504 False pseudomembranous diphtheritic conjunctivitis diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020843 MONDO:0001217 False pseudomembranous diphtheritic conjunctivitis pseudomembranous conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020843 MONDO:0005504 False pseudomembranous diphtheritic conjunctivitis diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020847 MONDO:0015802 False intellectual disability, autosomal dominant 58 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020853 MONDO:0100198 False encephalitis/encephalopathy, mild, with reversible myelin vacuolization Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020858 MONDO:0000066 False mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020860 MONDO:0005504 False faucial diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020863 MONDO:0004382 False laryngeal diphtheria laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020863 MONDO:0005504 False laryngeal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020860 MONDO:0005504 False faucial diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020863 MONDO:0004382 False laryngeal diphtheria laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020863 MONDO:0005504 False laryngeal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020863 MONDO:0024355 False laryngeal diphtheria respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020866 MONDO:0004821 False nasopharyngeal diphtheria nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020866 MONDO:0005504 False nasopharyngeal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020866 MONDO:0004821 False nasopharyngeal diphtheria nasopharyngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020866 MONDO:0005504 False nasopharyngeal diphtheria diphtheria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020866 MONDO:0024355 False nasopharyngeal diphtheria respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020920 MONDO:0005113 False escherichia coli infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020920 MONDO:0005113 False escherichia coli infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020927 MONDO:0011348 False postaxial polydactyly non-syndromic polydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020937 MONDO:0003847 False contractures, pterygia, and variable skeletal fusions syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020937 MONDO:0017415 False contractures, pterygia, and variable skeletal fusions syndrome multiple pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29992,108 +30015,108 @@ MONDO:0020947 MONDO:0005135 False parasitic eye infection parasitic infectious d MONDO:0020947 MONDO:0043885 False parasitic eye infection eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020950 MONDO:0005108 False viral eye infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020950 MONDO:0043885 False viral eye infection eye infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020959 MONDO:0005838 False Mansonella ozzardi infection mansonelliasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020959 MONDO:0005838 False Mansonella ozzardi infection mansonelliasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020959 MONDO:0005943 False Mansonella ozzardi infection Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020971 MONDO:0004277 False gonococcal urethritis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020971 MONDO:0005297 False gonococcal urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020971 MONDO:0004277 False gonococcal urethritis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020971 MONDO:0005297 False gonococcal urethritis urethritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020974 MONDO:0004382 False laryngeal granuloma laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020977 MONDO:0005280 False granulomatous prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020979 MONDO:0021539 False pilosebaceous hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020980 MONDO:0020979 False hair nevus pilosebaceous hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020977 MONDO:0005280 False granulomatous prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020979 MONDO:0021539 False pilosebaceous hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020980 MONDO:0020979 False hair nevus pilosebaceous hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020983 MONDO:0005267 False myocardial rupture heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020989 MONDO:0019050 False hereditary persistence of fetal hemoglobin inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021002 MONDO:0003847 False syndactyly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020989 MONDO:0019050 False hereditary persistence of fetal hemoglobin inherited hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021002 MONDO:0003847 False syndactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021002 MONDO:0005172 False syndactyly skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021002 MONDO:0021147 False syndactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021003 MONDO:0003847 False polydactyly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021003 MONDO:0003847 False polydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021003 MONDO:0005172 False polydactyly skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021003 MONDO:0021147 False polydactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021004 MONDO:0003847 False brachydactyly hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021004 MONDO:0003847 False brachydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021004 MONDO:0005172 False brachydactyly skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021004 MONDO:0021147 False brachydactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021008 MONDO:8000010 False secondary antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021009 MONDO:0044964 False salivary gland mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021010 MONDO:0002656 False skin lymphangiosarcoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021009 MONDO:0044964 False salivary gland mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021010 MONDO:0002656 False skin lymphangiosarcoma skin carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0001595 False hereditary progressive chorea without dementia choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0003847 False hereditary progressive chorea without dementia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021012 MONDO:0015979 False susceptibility to visceral leishmaniasis, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021019 MONDO:0020605 False X-linked recessive ocular albinism X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021019 MONDO:0043209 False X-linked recessive ocular albinism albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021019 MONDO:0043209 False X-linked recessive ocular albinism albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021019 MONDO:0700230 False X-linked recessive ocular albinism GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021021 MONDO:0015465 False craniodiaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021021 MONDO:0015465 False craniodiaphyseal dysplasia, autosomal dominant craniometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0021024 MONDO:0015979 False malaria, susceptibility to hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021025 MONDO:0007329 False cirrhosis, familial, with antigenemia cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021025 MONDO:0007329 False cirrhosis, familial, with antigenemia cirrhosis, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0021026 MONDO:0005093 False hereditary epidermal appendage anomaly skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021032 MONDO:0003382 False herpes zoster with dermatitis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021032 MONDO:0003382 False herpes zoster with dermatitis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021032 MONDO:0020950 False herpes zoster with dermatitis of eyelid viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021032 MONDO:0021033 False herpes zoster with dermatitis of eyelid herpes zoster dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021033 MONDO:0005608 False herpes zoster dermatitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021033 MONDO:0021201 False herpes zoster dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021036 MONDO:0005093 False keratosis pilaris skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021032 MONDO:0021033 False herpes zoster with dermatitis of eyelid herpes zoster dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021033 MONDO:0005608 False herpes zoster dermatitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021033 MONDO:0021201 False herpes zoster dermatitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021036 MONDO:0005093 False keratosis pilaris skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021052 MONDO:0044995 False parasympathetic paraganglioma parasympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021053 MONDO:0000473 False carotid body paraganglioma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021053 MONDO:0021080 False carotid body paraganglioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021053 MONDO:0043218 False carotid body paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021053 MONDO:0000473 False carotid body paraganglioma arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021053 MONDO:0021080 False carotid body paraganglioma blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021053 MONDO:0043218 False carotid body paraganglioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021055 MONDO:0021057 False classic familial adenomatous polyposis classic or attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021056 MONDO:0016362 False familial adenomatous polyposis 1 attenuated familial adenomatous polyposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021058 MONDO:0002254 False neoplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021058 MONDO:0002254 False neoplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021058 MONDO:0023370 False neoplastic syndrome neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021060 MONDO:0003847 False RASopathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021061 MONDO:0015356 False neurofibromatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021061 MONDO:0042983 False neurofibromatosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021064 MONDO:0002785 False jugulotympanic paraganglioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021064 MONDO:0023603 False jugulotympanic paraganglioma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021065 MONDO:0020641 False pleural neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021071 MONDO:0020641 False laryngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021060 MONDO:0003847 False RASopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021061 MONDO:0015356 False neurofibromatosis hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021061 MONDO:0042983 False neurofibromatosis neurocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021064 MONDO:0002785 False jugulotympanic paraganglioma skull base neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021064 MONDO:0023603 False jugulotympanic paraganglioma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021065 MONDO:0020641 False pleural neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021071 MONDO:0020641 False laryngeal neoplasm respiratory tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021072 MONDO:0044993 False sympathetic paraganglioma sympathetic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021073 MONDO:0002254 False paraneoplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021073 MONDO:0045054 False paraneoplastic syndrome cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021073 MONDO:0002254 False paraneoplastic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021073 MONDO:0045054 False paraneoplastic syndrome cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021074 MONDO:0045024 False precancerous condition cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021075 MONDO:0021074 False neoplastic polyp precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021075 MONDO:0021074 False neoplastic polyp precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021081 MONDO:0100029 False anti-NMDA receptor encephalitis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021082 MONDO:0006801 False Meckel diverticulum neoplasm ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021083 MONDO:0002320 False congenital fibrosis of extraocular muscles type 1 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021083 MONDO:0002320 False congenital fibrosis of extraocular muscles type 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021084 MONDO:0024417 False vision disorder perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021084 MONDO:0024458 False vision disorder disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021086 MONDO:0021192 False gingival neoplasm odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021090 MONDO:0003982 False lipid-rich breast carcinoma bilateral breast carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021091 MONDO:0002533 False papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021094 MONDO:0003847 False immunodeficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021094 MONDO:0005046 False immunodeficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021095 MONDO:0003996 False parkinsonian disorder basal ganglia disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021097 MONDO:0000652 False intraductal breast papilloma integumentary system benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021100 MONDO:0021350 False breast neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021101 MONDO:0004210 False appendix L-cell glucagon-like peptide-producing neuroendocrine tumor colonic L-cell glucagon-like peptide producing tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021102 MONDO:0021066 False prostate phyllodes tumor urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021086 MONDO:0021192 False gingival neoplasm odontogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021090 MONDO:0003982 False lipid-rich breast carcinoma bilateral breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021091 MONDO:0002533 False papillary cystadenoma papillary adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021094 MONDO:0003847 False immunodeficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021094 MONDO:0005046 False immunodeficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021095 MONDO:0003996 False parkinsonian disorder basal ganglia disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021097 MONDO:0000652 False intraductal breast papilloma integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021100 MONDO:0021350 False breast neoplasm neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021101 MONDO:0004210 False appendix L-cell glucagon-like peptide-producing neuroendocrine tumor colonic L-cell glucagon-like peptide producing tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021102 MONDO:0021066 False prostate phyllodes tumor urinary system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021104 MONDO:0004790 False alcoholic fatty liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021104 MONDO:0043693 False alcoholic fatty liver disease alcoholic liver diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021105 MONDO:0013209 False NAFLD1 metabolic dysfunction-associated steatotic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021106 MONDO:0003847 False laminopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021107 MONDO:0003847 False narcolepsy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021108 MONDO:0005156 False meningitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021112 MONDO:0005836 False scrotum cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021107 MONDO:0003847 False narcolepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021108 MONDO:0005156 False meningitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021112 MONDO:0005836 False scrotum cancer male reproductive organ cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021114 MONDO:0002051 False Bartholin gland neoplasm integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021115 MONDO:0004990 False luminal B breast carcinoma breast tumor luminal A or B UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021115 MONDO:0004990 False luminal B breast carcinoma breast tumor luminal A or B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021116 MONDO:0004990 False luminal A breast carcinoma breast tumor luminal A or B UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021124 MONDO:0002263 False female infertility female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021124 MONDO:0005047 False female infertility infertility disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021131 MONDO:0001421 False frontal lobe ependymal tumor frontal lobe neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021131 MONDO:0002731 False frontal lobe ependymal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021131 MONDO:0004245 False frontal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021132 MONDO:0001741 False tertiary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021131 MONDO:0001421 False frontal lobe ependymal tumor frontal lobe neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021131 MONDO:0002731 False frontal lobe ependymal tumor cerebral hemisphere cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021131 MONDO:0004245 False frontal lobe ependymal tumor ependymal tumor of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021132 MONDO:0001741 False tertiary hyperparathyroidism hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021133 MONDO:0002241 False acquired factor XIII deficiency factor XIII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021133 MONDO:0020599 False acquired factor XIII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021134 MONDO:0002247 False acquired factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021134 MONDO:0020599 False acquired factor X deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021133 MONDO:0020599 False acquired factor XIII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021134 MONDO:0002247 False acquired factor X deficiency factor X deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021134 MONDO:0020599 False acquired factor X deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021138 MONDO:0000621 False bone marrow cancer immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021138 MONDO:0002129 False bone marrow cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021138 MONDO:0002129 False bone marrow cancer bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021141 MONDO:0021139 False acquired congenital or acquired UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021143 MONDO:0021635 False melanocytic neoplasm neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021146 MONDO:0700057 False headache disorder neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021147 MONDO:0700096 False disorder of development or morphogenesis human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021154 MONDO:0005093 False dermis disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021156 MONDO:0003381 False hypophysitis pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021156 MONDO:0005156 False hypophysitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021156 MONDO:0003381 False hypophysitis pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021156 MONDO:0005156 False hypophysitis encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021157 MONDO:0002345 False gonococcal cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021157 MONDO:0004277 False gonococcal cervicitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021157 MONDO:0021166 False gonococcal cervicitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30109,189 +30132,189 @@ MONDO:0021161 MONDO:0005280 False gonococcal prostatitis prostatitis UNSUPPORTED MONDO:0021164 MONDO:0002036 False posthitis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021164 MONDO:0021166 False posthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021166 MONDO:0700096 False inflammatory disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021167 MONDO:0021166 False myositis disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021167 MONDO:0021166 False myositis disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021171 MONDO:0010979 False Timothy syndrome, classic type Timothy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021175 MONDO:0005608 False herpetic vulvovaginitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021175 MONDO:0007019 False herpetic vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021175 MONDO:0023557 False herpetic vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021175 MONDO:0005608 False herpetic vulvovaginitis varicella zoster infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021175 MONDO:0007019 False herpetic vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021175 MONDO:0023557 False herpetic vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021177 MONDO:0016264 False autoimmune hepatitis type 3 autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021179 MONDO:0005066 False proteostasis deficiencies metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021181 MONDO:0001531 False inherited blood coagulation disorder blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021181 MONDO:0003847 False inherited blood coagulation disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021183 MONDO:0021184 False HTLV-2 infection deltaretrovirus infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021184 MONDO:0100329 False deltaretrovirus infections primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021190 MONDO:0019052 False DNA repair disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021192 MONDO:0021223 False odontogenic neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021201 MONDO:0002406 False skin infection dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021190 MONDO:0019052 False DNA repair disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021192 MONDO:0021223 False odontogenic neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021201 MONDO:0002406 False skin infection dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021201 MONDO:0024294 False skin infection skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021202 MONDO:0005271 False allergic otitis media allergic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021202 MONDO:0005441 False allergic otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021203 MONDO:0001212 False serous otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021204 MONDO:0005441 False chronic otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021205 MONDO:0024623 False disorder of ear otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021205 MONDO:0024623 False disorder of ear otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021206 MONDO:0001212 False chronic non-suppurative otitis media non-suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021206 MONDO:0021204 False chronic non-suppurative otitis media chronic otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021207 MONDO:0005539 False Crohn jejunitis small bowel Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021208 MONDO:0004907 False endocrine alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021218 MONDO:0021353 False placenta neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021220 MONDO:0005586 False eye neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021218 MONDO:0021353 False placenta neoplasm tumor of uterus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021220 MONDO:0005586 False eye neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021222 MONDO:0024625 False lacrimal gland neoplasm disorder of lacrimal gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021227 MONDO:0002082 False adrenal gland neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021229 MONDO:0021224 False ciliary body neoplasm iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021231 MONDO:0021248 False retina neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021232 MONDO:0002082 False pineal body neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021232 MONDO:0003081 False pineal body neoplasm thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021227 MONDO:0002082 False adrenal gland neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021229 MONDO:0021224 False ciliary body neoplasm iris neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021231 MONDO:0021248 False retina neoplasm nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021232 MONDO:0002082 False pineal body neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021232 MONDO:0003081 False pineal body neoplasm thalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021232 MONDO:0100070 False pineal body neoplasm neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021240 MONDO:0021223 False tongue neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021241 MONDO:0021223 False buccal mucosa neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021240 MONDO:0021223 False tongue neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021241 MONDO:0021223 False buccal mucosa neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021241 MONDO:0044992 False buccal mucosa neoplasm mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021243 MONDO:0005899 False parotid gland neoplasm parotid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021244 MONDO:0001597 False submandibular gland neoplasm submandibular gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021245 MONDO:0021223 False oral cavity neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021246 MONDO:0021223 False pharynx neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021249 MONDO:0021223 False lip neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021250 MONDO:0020592 False tonsil neoplasm disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021250 MONDO:0021246 False tonsil neoplasm pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021245 MONDO:0021223 False oral cavity neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021246 MONDO:0021223 False pharynx neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021249 MONDO:0021223 False lip neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021250 MONDO:0020592 False tonsil neoplasm disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021250 MONDO:0021246 False tonsil neoplasm pharynx neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021250 MONDO:0044986 False tonsil neoplasm lymphoid system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021258 MONDO:0024296 False choroid neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021258 MONDO:0024296 False choroid neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021272 MONDO:0003847 False inherited orthostatic hypotension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021272 MONDO:0015914 False inherited orthostatic hypotension primary orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021275 MONDO:0002536 False papilloma of eyelid skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021281 MONDO:0003645 False cavernous hemangioma of retina cavernous hemangioma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021281 MONDO:0021541 False cavernous hemangioma of retina hemangioma of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021282 MONDO:0003510 False malignant teratoma of testis malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021282 MONDO:0003514 False malignant teratoma of testis malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021283 MONDO:0003514 False malignant teratoma of mediastinum malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021283 MONDO:0003578 False malignant teratoma of mediastinum extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021283 MONDO:0006298 False malignant teratoma of mediastinum mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021287 MONDO:0021288 False carcinoma in situ of epiglottis carcinoma in situ of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021290 MONDO:0021289 False carcinoma in situ of appendix carcinoma in situ of cecum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021272 MONDO:0015914 False inherited orthostatic hypotension primary orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021275 MONDO:0002536 False papilloma of eyelid skin papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021281 MONDO:0003645 False cavernous hemangioma of retina cavernous hemangioma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021281 MONDO:0021541 False cavernous hemangioma of retina hemangioma of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021282 MONDO:0003510 False malignant teratoma of testis malignant testicular germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021282 MONDO:0003514 False malignant teratoma of testis malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021283 MONDO:0003514 False malignant teratoma of mediastinum malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021283 MONDO:0003578 False malignant teratoma of mediastinum extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021283 MONDO:0006298 False malignant teratoma of mediastinum mediastinal malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021287 MONDO:0021288 False carcinoma in situ of epiglottis carcinoma in situ of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021290 MONDO:0021289 False carcinoma in situ of appendix carcinoma in situ of cecum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021296 MONDO:0004732 False carcinoma in situ of renal pelvis kidney carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021299 MONDO:0000374 False carcinoma in situ of extrahepatic bile duct bile duct carcinoma in situ UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021299 MONDO:0003090 False carcinoma in situ of extrahepatic bile duct extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021299 MONDO:0003090 False carcinoma in situ of extrahepatic bile duct extrahepatic bile duct carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021301 MONDO:0000652 False adenoma of nipple integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021301 MONDO:0002058 False adenoma of nipple breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021311 MONDO:0021069 False malignant tumor of parathyroid gland malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021313 MONDO:0002898 False eyelid cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021301 MONDO:0002058 False adenoma of nipple breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021311 MONDO:0021069 False malignant tumor of parathyroid gland malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021313 MONDO:0002898 False eyelid cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021316 MONDO:0004727 False malignant tumor of minor salivary gland vestibule of mouth cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021320 MONDO:0002516 False malignant tumor of floor of mouth digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021320 MONDO:0002516 False malignant tumor of floor of mouth digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021321 MONDO:0003059 False malignant tumor of extrahepatic bile duct bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021333 MONDO:0044925 False carcinoma of lip oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021333 MONDO:0044925 False carcinoma of lip oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021334 MONDO:0005046 False immunoproliferative disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021340 MONDO:0002406 False intertrigo dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021343 MONDO:0006181 False carcinoma of floor of mouth digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021345 MONDO:0006181 False carcinoma of pharynx digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021343 MONDO:0006181 False carcinoma of floor of mouth digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021345 MONDO:0006181 False carcinoma of pharynx digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021354 MONDO:0021581 False tumor of adipose tissue connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021355 MONDO:0021350 False neoplasm of esophagus neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021357 MONDO:0021223 False tumor of salivary gland digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021360 MONDO:0002082 False tumor of parathyroid gland endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021364 MONDO:0004335 False neoplasm of oropharynx digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021355 MONDO:0021350 False neoplasm of esophagus neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021357 MONDO:0021223 False tumor of salivary gland digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021360 MONDO:0002082 False tumor of parathyroid gland endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021364 MONDO:0004335 False neoplasm of oropharynx digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021367 MONDO:0011996 False leukemia, myeloid, accelerated-phase chronic myelogenous leukemia, BCR-ABL1 positive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021370 MONDO:0044992 False neoplasm of minor salivary gland mouth mucosa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021375 MONDO:0002866 False tumor of duodenum duodenal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021377 MONDO:0006572 False hypertrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021377 MONDO:0006572 False hypertrophic lichen planus lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021378 MONDO:0000470 False neoplasm of endocardium endocardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021379 MONDO:0021381 False neoplasm of epicardium neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021380 MONDO:0024643 False neoplasm of myocardium myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021379 MONDO:0021381 False neoplasm of epicardium neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021380 MONDO:0024643 False neoplasm of myocardium myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021381 MONDO:0000474 False neoplasm of pericardium pericardium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021383 MONDO:0021223 False neoplasm of floor of mouth digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021389 MONDO:0005561 False neoplasm of aortic body aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021389 MONDO:0021080 False neoplasm of aortic body blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021389 MONDO:0021350 False neoplasm of aortic body neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021389 MONDO:0043218 False neoplasm of aortic body neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021392 MONDO:0005079 False polyp of large intestine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021383 MONDO:0021223 False neoplasm of floor of mouth digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021389 MONDO:0005561 False neoplasm of aortic body aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021389 MONDO:0021080 False neoplasm of aortic body blood vessel neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021389 MONDO:0021350 False neoplasm of aortic body neoplasm of thorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021389 MONDO:0043218 False neoplasm of aortic body neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021392 MONDO:0005079 False polyp of large intestine polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021392 MONDO:0024634 False polyp of large intestine large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021394 MONDO:0001433 False polyp of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021396 MONDO:0002263 False polyp of vulva female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021394 MONDO:0001433 False polyp of vagina vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021396 MONDO:0002263 False polyp of vulva female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021398 MONDO:0001593 False polyp of rectum rectal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021398 MONDO:0021392 False polyp of rectum polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021398 MONDO:0021392 False polyp of rectum polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021400 MONDO:0003409 False polyp of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021400 MONDO:0021392 False polyp of colon polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021404 MONDO:0001735 False polyp of sphenoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021404 MONDO:0005079 False polyp of sphenoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021400 MONDO:0021392 False polyp of colon polyp of large intestine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021404 MONDO:0001735 False polyp of sphenoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021404 MONDO:0005079 False polyp of sphenoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021404 MONDO:0023369 False polyp of sphenoidal sinus disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021408 MONDO:0001735 False polyp of frontal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021408 MONDO:0005079 False polyp of frontal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0001735 False polyp of maxillary sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0005079 False polyp of maxillary sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021412 MONDO:0006858 False polyp of maxillary sinus mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021408 MONDO:0001735 False polyp of frontal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021408 MONDO:0005079 False polyp of frontal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0001735 False polyp of maxillary sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0005079 False polyp of maxillary sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021412 MONDO:0006858 False polyp of maxillary sinus mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021412 MONDO:0023369 False polyp of maxillary sinus disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021416 MONDO:0005079 False polyp of gallbladder polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021416 MONDO:0005281 False polyp of gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021418 MONDO:0001735 False polyp of ethmoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021418 MONDO:0005079 False polyp of ethmoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021420 MONDO:0004382 False polyp of vocal cord laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021420 MONDO:0005079 False polyp of vocal cord polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021424 MONDO:0002531 False hemangiopericytoma of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021427 MONDO:0004958 False squamous cell carcinoma of lip oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021439 MONDO:0000631 False benign neoplasm of pituitary gland bone benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021416 MONDO:0005079 False polyp of gallbladder polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021416 MONDO:0005281 False polyp of gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021418 MONDO:0001735 False polyp of ethmoidal sinus paranasal sinus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021418 MONDO:0005079 False polyp of ethmoidal sinus polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021420 MONDO:0004382 False polyp of vocal cord laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021420 MONDO:0005079 False polyp of vocal cord polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021424 MONDO:0002531 False hemangiopericytoma of skin skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021427 MONDO:0004958 False squamous cell carcinoma of lip oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021439 MONDO:0000631 False benign neoplasm of pituitary gland bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021440 MONDO:0000652 False benign neoplasm of skin integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021444 MONDO:0024634 False benign neoplasm of large intestine large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021446 MONDO:0021461 False benign neoplasm of epiglottis benign neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021446 MONDO:0021461 False benign neoplasm of epiglottis benign neoplasm of hypopharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021450 MONDO:0000629 False benign neoplasm of heart cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021451 MONDO:0000628 False benign neoplasm of brain central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021454 MONDO:0000633 False benign neoplasm of eye sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021456 MONDO:0000636 False benign neoplasm of sternum musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021457 MONDO:0000382 False benign neoplasm of pleura respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021459 MONDO:0000634 False benign neoplasm of esophagus thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021459 MONDO:0000634 False benign neoplasm of esophagus thoracic benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021461 MONDO:0000382 False benign neoplasm of hypopharynx respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021465 MONDO:0021464 False benign neoplasm of appendix benign neoplasm of cecum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0021469 MONDO:0021462 False benign neoplasm of anus benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021472 MONDO:0000625 False benign neoplasm of scrotum benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021465 MONDO:0021464 False benign neoplasm of appendix benign neoplasm of cecum UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021469 MONDO:0021462 False benign neoplasm of anus benign neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021472 MONDO:0000625 False benign neoplasm of scrotum benign male reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021474 MONDO:0000633 False benign neoplasm of ear sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021475 MONDO:0000382 False benign neoplasm of nasal cavity respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021475 MONDO:0000633 False benign neoplasm of nasal cavity sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021476 MONDO:0000633 False benign neoplasm of tongue sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021477 MONDO:0000382 False benign neoplasm of sphenoidal sinus respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021477 MONDO:0000631 False benign neoplasm of sphenoidal sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021477 MONDO:0000631 False benign neoplasm of sphenoidal sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021477 MONDO:0000633 False benign neoplasm of sphenoidal sinus sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021478 MONDO:0000382 False benign neoplasm of nasopharynx respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021479 MONDO:0000382 False benign neoplasm of oropharynx respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021479 MONDO:0000385 False benign neoplasm of oropharynx benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021480 MONDO:0021445 False benign neoplasm of soft palate benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021479 MONDO:0000385 False benign neoplasm of oropharynx benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021480 MONDO:0021445 False benign neoplasm of soft palate benign neoplasm of oral cavity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021483 MONDO:0000382 False benign neoplasm of frontal sinus respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021483 MONDO:0000631 False benign neoplasm of frontal sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021483 MONDO:0000631 False benign neoplasm of frontal sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021483 MONDO:0000633 False benign neoplasm of frontal sinus sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021484 MONDO:0000382 False benign neoplasm of maxillary sinus respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021484 MONDO:0000631 False benign neoplasm of maxillary sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021484 MONDO:0000631 False benign neoplasm of maxillary sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021484 MONDO:0000633 False benign neoplasm of maxillary sinus sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021486 MONDO:0021485 False benign neoplasm of ciliary body benign neoplasm of iris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021486 MONDO:0021485 False benign neoplasm of ciliary body benign neoplasm of iris UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021487 MONDO:0000629 False benign neoplasm of choroid cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021487 MONDO:0043218 False benign neoplasm of choroid neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021487 MONDO:0043218 False benign neoplasm of choroid neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021491 MONDO:0000636 False benign neoplasm of gum musculoskeletal system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021497 MONDO:0021374 False benign neoplasm of cerebrum neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021498 MONDO:0000632 False benign neoplasm of placenta uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021497 MONDO:0021374 False benign neoplasm of cerebrum neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021498 MONDO:0000632 False benign neoplasm of placenta uterine benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021500 MONDO:0000630 False benign neoplasm of spleen immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021506 MONDO:0000628 False benign neoplasm of spinal cord central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021508 MONDO:0021514 False benign neoplasm of epicardium benign neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021511 MONDO:0000627 False benign neoplasm of adrenal gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021512 MONDO:0000627 False benign neoplasm of thymus benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021508 MONDO:0021514 False benign neoplasm of epicardium benign neoplasm of pericardium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021511 MONDO:0000627 False benign neoplasm of adrenal gland benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021512 MONDO:0000627 False benign neoplasm of thymus benign endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021512 MONDO:0000630 False benign neoplasm of thymus immune system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021513 MONDO:0000382 False benign neoplasm of tonsil respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021513 MONDO:0021523 False benign neoplasm of tonsil benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021513 MONDO:0021523 False benign neoplasm of tonsil benign neoplasm of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021514 MONDO:0000629 False benign neoplasm of pericardium cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021515 MONDO:0000382 False benign neoplasm of ethmoidal sinus respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021515 MONDO:0000631 False benign neoplasm of ethmoidal sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021515 MONDO:0000631 False benign neoplasm of ethmoidal sinus bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021515 MONDO:0000633 False benign neoplasm of ethmoidal sinus sensory organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021517 MONDO:0000382 False benign neoplasm of trachea respiratory system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021522 MONDO:0021580 False benign neoplasm of lower jaw bone neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021527 MONDO:0000628 False benign neoplasm of meninges central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021537 MONDO:0005617 False undifferentiated carcinoma of nasopharynx undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021539 MONDO:0002297 False hamartoma of skin appendage epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021539 MONDO:0006499 False hamartoma of skin appendage hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021540 MONDO:0006499 False hamartoma of lung hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021541 MONDO:0006500 False hemangioma of retina hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021541 MONDO:0021453 False hemangioma of retina benign neoplasm of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021541 MONDO:0043218 False hemangioma of retina neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021537 MONDO:0005617 False undifferentiated carcinoma of nasopharynx undifferentiated carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021539 MONDO:0002297 False hamartoma of skin appendage epidermal appendage tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021539 MONDO:0006499 False hamartoma of skin appendage hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021540 MONDO:0006499 False hamartoma of lung hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021541 MONDO:0006500 False hemangioma of retina hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021541 MONDO:0021453 False hemangioma of retina benign neoplasm of retina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021541 MONDO:0043218 False hemangioma of retina neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021545 MONDO:0003939 False myomatous neoplasm muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021546 MONDO:0002542 False ependymal tumor of spinal cord spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021546 MONDO:0003266 False ependymal tumor of spinal cord ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021559 MONDO:0003664 False non-autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021562 MONDO:0021166 False omphalitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021546 MONDO:0002542 False ependymal tumor of spinal cord spinal cord glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021546 MONDO:0003266 False ependymal tumor of spinal cord ependymal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021559 MONDO:0003664 False non-autoimmune hemolytic anemia hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021562 MONDO:0021166 False omphalitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021568 MONDO:0005240 False renal tubule disorder kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021569 MONDO:0015151 False Emery-Dreifuss muscular dystrophy 2, autosomal dominant muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021569 MONDO:0015151 False Emery-Dreifuss muscular dystrophy 2, autosomal dominant muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0021569 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 2, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021576 MONDO:0021251 False fallopian tube endometrioid tumor endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021576 MONDO:0021251 False fallopian tube endometrioid tumor endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021577 MONDO:0003098 False malignant mediastinal neural neoplasm mediastinal neural neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021577 MONDO:0005843 False malignant mediastinal neural neoplasm mediastinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021577 MONDO:0021089 False malignant mediastinal neural neoplasm peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30304,30 +30327,30 @@ MONDO:0021580 MONDO:0024653 False neoplasm of jaw skull neoplasm UNSUPPORTED-MIS MONDO:0021581 MONDO:0003900 False connective tissue neoplasm connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021581 MONDO:0005070 False connective tissue neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021582 MONDO:0100118 False lentigo hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021605 MONDO:0021440 False benign eyelid neoplasm benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021627 MONDO:0003110 False eyelid capillary hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021627 MONDO:0043218 False eyelid capillary hemangioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021629 MONDO:0021230 False uterine ligament neoplasm uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021605 MONDO:0021440 False benign eyelid neoplasm benign neoplasm of skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021627 MONDO:0003110 False eyelid capillary hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021627 MONDO:0043218 False eyelid capillary hemangioma neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021629 MONDO:0021230 False uterine ligament neoplasm uterine cervix neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021629 MONDO:0045044 False uterine ligament neoplasm ligament disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021630 MONDO:0005106 False lipoma of face lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021630 MONDO:0005586 False lipoma of face head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021633 MONDO:0021374 False cerebral astrocytoma neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021633 MONDO:0021374 False cerebral astrocytoma neoplasm of cerebral hemisphere UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021641 MONDO:0100329 False Bunyaviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021642 MONDO:0002263 False vulval varices female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021642 MONDO:0004869 False vulval varices pelvic varices UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0021642 MONDO:0004869 False vulval varices pelvic varices UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021643 MONDO:0008638 False mesenteric varices varicose disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021651 MONDO:0018230 False synpolydactyly skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021651 MONDO:0018230 False synpolydactyly skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021653 MONDO:0002523 False cutaneous focal mucinosis cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021654 MONDO:0002523 False diffuse cutaneous mucinosis cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021655 MONDO:0002523 False secondary catabolic mucinosis of skin cutaneous mucinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021658 MONDO:0005385 False vascular ectasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021660 MONDO:0005982 False deep seated dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021661 MONDO:0005010 False coronary atherosclerosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021661 MONDO:0005311 False coronary atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021658 MONDO:0005385 False vascular ectasia vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021660 MONDO:0005982 False deep seated dermatophytosis tinea infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021661 MONDO:0005010 False coronary atherosclerosis coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021661 MONDO:0005311 False coronary atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021662 MONDO:0005304 False bile duct neoplasm biliary tract neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0005550 False ear infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0021166 False ear infection inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021666 MONDO:0021205 False ear infection disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0005550 False ear infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0021166 False ear infection inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021666 MONDO:0021205 False ear infection disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0005244 False neuralgia peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021667 MONDO:0700057 False neuralgia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021669 MONDO:0700096 False post-infectious disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30337,7 +30360,7 @@ MONDO:0021677 MONDO:0021674 False post-infectious neuralgia post-viral disorder MONDO:0021678 MONDO:0005113 False gram-negative bacterial infections bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021679 MONDO:0005113 False gram-positive bacterial infections bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021680 MONDO:0021679 False streptococcal infection gram-positive bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021681 MONDO:0005039 False sexually transmitted disease reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021681 MONDO:0005039 False sexually transmitted disease reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021682 MONDO:0021681 False viral sexually transmitted disease sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021682 MONDO:0100329 False viral sexually transmitted disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021697 MONDO:0005323 False chlamydia infectious disease bacterial sexually transmitted disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30346,14 +30369,14 @@ MONDO:0021698 MONDO:0002494 False alcohol-related disorders substance-related di MONDO:0021699 MONDO:0021698 False alcohol-induced disorders alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021702 MONDO:0001152 False alcohol amnestic disorder amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021702 MONDO:0021698 False alcohol amnestic disorder alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021718 MONDO:0001824 False polyneuritis polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021718 MONDO:0002122 False polyneuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021718 MONDO:0001824 False polyneuritis polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021718 MONDO:0002122 False polyneuritis neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021722 MONDO:0002263 False vulvodynia female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021722 MONDO:0700057 False vulvodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021723 MONDO:0001433 False vaginismus vaginal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021726 MONDO:0009761 False abdominal cystic lymphangioma cystic hygroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021727 MONDO:0000473 False aberrant subclavian artery arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021736 MONDO:0024278 False proctosigmoiditis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021736 MONDO:0024278 False proctosigmoiditis proctocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021739 MONDO:0006547 False prurigo exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021742 MONDO:0005550 False puerperal infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021742 MONDO:0044013 False puerperal infection puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30362,16 +30385,16 @@ MONDO:0021745 MONDO:0006909 False psychosocial short stature pituitary dwarfism MONDO:0021746 MONDO:0006032 False pyelocystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021746 MONDO:0006938 False pyelocystitis pyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021747 MONDO:0005550 False Acanthamoeba infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021750 MONDO:0005240 False pyonephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021750 MONDO:0005240 False pyonephrosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021752 MONDO:0002254 False Achard-Thiers syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021758 MONDO:0001609 False acquired agranulocytosis agranulocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021759 MONDO:0017689 False acquired fructose intolerance disorder of fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021765 MONDO:0005071 False radiculitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021765 MONDO:0021166 False radiculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021777 MONDO:0006955 False acute rheumatic heart disease rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021765 MONDO:0005071 False radiculitis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021765 MONDO:0021166 False radiculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021777 MONDO:0006955 False acute rheumatic heart disease rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021777 MONDO:0020683 False acute rheumatic heart disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021783 MONDO:0002258 False streptococcal sore throat pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021783 MONDO:0021680 False streptococcal sore throat streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021783 MONDO:0002258 False streptococcal sore throat pharyngitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021783 MONDO:0021680 False streptococcal sore throat streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021783 MONDO:0024355 False streptococcal sore throat respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021804 MONDO:0005960 False silicotuberculosis silicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021804 MONDO:0006052 False silicotuberculosis pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30395,14 +30418,14 @@ MONDO:0021845 MONDO:0008797 False Aloi Tomasini Isaia syndrome anodontia UNSUPPO MONDO:0021851 MONDO:0004907 False alopecia universalis onychodystrophy vitiligo alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021851 MONDO:0008661 False alopecia universalis onychodystrophy vitiligo vitiligo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021856 MONDO:0100191 False Alsing syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021895 MONDO:0002254 False temporomandibular joint dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021895 MONDO:0005473 False temporomandibular joint dysfunction syndrome temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021895 MONDO:0002254 False temporomandibular joint dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021895 MONDO:0005473 False temporomandibular joint dysfunction syndrome temporomandibular joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021895 MONDO:0006862 False temporomandibular joint dysfunction syndrome myofascial pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021896 MONDO:0000473 False anterior spinal artery stroke arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021896 MONDO:0020688 False anterior spinal artery stroke spinal cord ischemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021902 MONDO:0005267 False aortopulmonary window heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021902 MONDO:0005267 False aortopulmonary window heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021913 MONDO:0005093 False aquagenic pruritus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021915 MONDO:0002254 False arakawa syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021915 MONDO:0002254 False arakawa syndrome 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021915 MONDO:0004736 False arakawa syndrome 2 inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021918 MONDO:0002254 False arena syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021921 MONDO:0000942 False Arnold stickler bourne syndrome corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30412,15 +30435,15 @@ MONDO:0021921 MONDO:0005240 False Arnold stickler bourne syndrome kidney disorde MONDO:0021923 MONDO:0001044 False Arroyo Garcia Cimadevilla syndrome esophageal atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021923 MONDO:0009047 False Arroyo Garcia Cimadevilla syndrome cryptorchidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021925 MONDO:0000270 False tracheobronchitis lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021925 MONDO:0021166 False tracheobronchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021929 MONDO:0003964 False traumatic myositis ossificans myositis ossificans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021932 MONDO:0005459 False infection by Trypanosoma gambiense human African trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021932 MONDO:0021201 False infection by Trypanosoma gambiense skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021925 MONDO:0021166 False tracheobronchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021929 MONDO:0003964 False traumatic myositis ossificans myositis ossificans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021932 MONDO:0005459 False infection by Trypanosoma gambiense human African trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021932 MONDO:0021201 False infection by Trypanosoma gambiense skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021932 MONDO:0024610 False infection by Trypanosoma gambiense parasitic skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021935 MONDO:0005657 False aspergillus niger infection aspergillosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021941 MONDO:0005459 False infection by Trypanosoma rhodesiense human African trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021941 MONDO:0005459 False infection by Trypanosoma rhodesiense human African trypanosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021943 MONDO:0018076 False tuberculoma tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021944 MONDO:0005365 False auditory neuropathy hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021944 MONDO:0005365 False auditory neuropathy hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021944 MONDO:0037940 False auditory neuropathy inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021945 MONDO:0002409 False hearing disorder auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021945 MONDO:0024417 False hearing disorder perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30430,12 +30453,12 @@ MONDO:0021950 MONDO:0000569 False autoimmune oophoritis autoimmune disorder of e MONDO:0021950 MONDO:0006877 False autoimmune oophoritis oophoritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021952 MONDO:0002406 False autoimmune progesterone dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021952 MONDO:0007179 False autoimmune progesterone dermatitis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021953 MONDO:0002771 False tuberculous fibrosis of lung pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021953 MONDO:0006052 False tuberculous fibrosis of lung pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021953 MONDO:0002771 False tuberculous fibrosis of lung pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021953 MONDO:0006052 False tuberculous fibrosis of lung pulmonary tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021953 MONDO:0024355 False tuberculous fibrosis of lung respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021957 MONDO:0020376 False autosomal recessive nonsyndromic congenital nuclear cataract early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021960 MONDO:0001926 False ureteritis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021960 MONDO:0021166 False ureteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021960 MONDO:0001926 False ureteritis ureteral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021960 MONDO:0021166 False ureteritis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021962 MONDO:0002254 False baetz-greenwalt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021964 MONDO:0002254 False bagatelle Cassidy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021964 MONDO:0005287 False bagatelle Cassidy syndrome developmental disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30443,7 +30466,7 @@ MONDO:0021964 MONDO:0016608 False bagatelle Cassidy syndrome megalencephaly UNSU MONDO:0021966 MONDO:0001150 False baker Vinters syndrome hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021966 MONDO:0002254 False baker Vinters syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021969 MONDO:0002254 False Banti syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021977 MONDO:0006499 False basaloid follicular hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021977 MONDO:0006499 False basaloid follicular hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021979 MONDO:0002884 False Basaran Yilmaz syndrome nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021979 MONDO:0003037 False Basaran Yilmaz syndrome hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021994 MONDO:0021004 False Berk-Tabatznik syndrome brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30458,7 +30481,7 @@ MONDO:0022025 MONDO:0024237 False boylan dew greco syndrome inherited neurodegen MONDO:0022034 MONDO:0100329 False lentivirus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022037 MONDO:0018908 False large-cell immunoblastic lymphoma non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022055 MONDO:0001029 False Calabro syndrome Klippel-Feil syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022057 MONDO:0002531 False calcifying epithelial odontogenic tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022057 MONDO:0002531 False calcifying epithelial odontogenic tumor skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022060 MONDO:0001476 False calloso-genital dysplasia coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022060 MONDO:0001836 False calloso-genital dysplasia amenorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022060 MONDO:0009022 False calloso-genital dysplasia corpus callosum, agenesis of UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30468,7 +30491,7 @@ MONDO:0022089 MONDO:0002254 False Carnevale hernandez castillo syndrome syndromi MONDO:0022094 MONDO:0002254 False Cartwright Nelson Fryns syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022096 MONDO:0002407 False pyogenic granuloma capillary hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022098 MONDO:0002076 False catamenial pneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022103 MONDO:0005280 False chronic prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022103 MONDO:0005280 False chronic prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022113 MONDO:0003847 False central centrifugal cicatricial alopecia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022113 MONDO:0004907 False central centrifugal cicatricial alopecia alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022140 MONDO:0002254 False Charles bonnet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30478,11 +30501,11 @@ MONDO:0022178 MONDO:0700020 False chromosome 13q-mosaicism chromosome 13 disorde MONDO:0022196 MONDO:0004966 False chronic erosive gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022205 MONDO:0005083 False pustular psoriasis psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022208 MONDO:0006816 False crystal arthropathy arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022220 MONDO:0002254 False Parinaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022220 MONDO:0002254 False Parinaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022236 MONDO:0005560 False colpocephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022293 MONDO:0002036 False vascular disorder of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022293 MONDO:0005385 False vascular disorder of penis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022308 MONDO:0002254 False corticobasal degeneration disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022293 MONDO:0002036 False vascular disorder of penis penile disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022293 MONDO:0005385 False vascular disorder of penis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022308 MONDO:0002254 False corticobasal degeneration disorder syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022308 MONDO:0024238 False corticobasal degeneration disorder cerebral degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022311 MONDO:0007405 False cote katsantoni syndrome Crouzon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022316 MONDO:0002254 False hair defect with photosensitivity and intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30503,16 +30526,16 @@ MONDO:0022417 MONDO:0019272 False alopecia congenita keratosis palmoplantaris he MONDO:0022424 MONDO:0002254 False alpha-mannosidosis type 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022424 MONDO:0009561 False alpha-mannosidosis type 1 alpha-mannosidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022428 MONDO:0002254 False aluminosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022430 MONDO:0024239 False persistent fetal circulation syndrome congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022430 MONDO:0024239 False persistent fetal circulation syndrome congenital anomaly of cardiovascular system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022432 MONDO:0019287 False alves Castelo dos Santos syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022435 MONDO:0002254 False Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022435 MONDO:0002254 False Mauriac syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022453 MONDO:0006499 False angiomyomatous hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022510 MONDO:0002254 False atlanto-axial fusion syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022513 MONDO:0002254 False atrophoderma of Pierini and Pasini syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022519 MONDO:0030701 False autoimmune myocarditis autoimmune cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022519 MONDO:0030701 False autoimmune myocarditis autoimmune cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022535 MONDO:0005269 False autonomic facial cephalgia carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022538 MONDO:0002021 False leukoplakia of gingiva gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022538 MONDO:0004844 False leukoplakia of gingiva oral mucosa leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022538 MONDO:0002021 False leukoplakia of gingiva gingival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022538 MONDO:0004844 False leukoplakia of gingiva oral mucosa leukoplakia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022552 MONDO:0007405 False Bazopoulou Kyrkanidou syndrome Crouzon syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022555 MONDO:0002254 False Beardwell syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022557 MONDO:0002427 False Behrens Baumann dust syndrome cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30529,20 +30552,20 @@ MONDO:0022634 MONDO:0002254 False camptodactyly vertebral fusion syndromic disea MONDO:0022648 MONDO:0002254 False cardiomyopathy and deafness due to tRNA lysine gene mutation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022654 MONDO:0002254 False cardiomyopathy hypogonadism collagenoma syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022673 MONDO:0022672 False autosomal dominant non-nuclear cataract autosomal dominant cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022687 MONDO:0002427 False cerebellar degeneration cerebellar disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022687 MONDO:0005559 False cerebellar degeneration neurodegenerative disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022687 MONDO:0002427 False cerebellar degeneration cerebellar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0022687 MONDO:0005559 False cerebellar degeneration neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0022712 MONDO:0002254 False oculo digital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022715 MONDO:0000115 False Chiari malformation type 3 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022716 MONDO:0000115 False Chiari malformation type 4 Chiari malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022723 MONDO:0002254 False chondrodysplasia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022735 MONDO:0005262 False choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022735 MONDO:0005262 False choroid plexus cyst central nervous system cyst UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0005275 False occupational lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022736 MONDO:0100366 False occupational lung disease occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022737 MONDO:0010557 False choroideremia hypopituitarism choroideremia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022742 MONDO:0022736 False occupational asthma occupational lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022745 MONDO:0015926 False mixed dust pneumoconiosis pneumoconiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022746 MONDO:0700029 False chromosome 13p duplication partial duplication of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022749 MONDO:0005093 False non-neoplastic nevus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022749 MONDO:0005093 False non-neoplastic nevus skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022752 MONDO:0016894 False chromosome 16p13.3 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022752 MONDO:0019188 False chromosome 16p13.3 deletion syndrome Rubinstein-Taybi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022755 MONDO:0020639 False chromosome 18 mosaic monosomy monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30558,7 +30581,7 @@ MONDO:0022761 MONDO:0700010 False chromosome 3 duplication syndrome chromosome 3 MONDO:0022799 MONDO:0005492 False cold urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0002254 False type 2 collagenopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0004603 False type 2 collagenopathy collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022800 MONDO:0018230 False type 2 collagenopathy skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022800 MONDO:0018230 False type 2 collagenopathy skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022800 MONDO:0023603 False type 2 collagenopathy hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022812 MONDO:0002254 False complement receptor deficiency syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022812 MONDO:0003832 False complement receptor deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30566,7 +30589,7 @@ MONDO:0022815 MONDO:0002254 False congenital absence of the sternocleidomastoid MONDO:0022825 MONDO:0002254 False congenital cystic eye syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022839 MONDO:0005109 False congenital human immunodeficiency virus HIV infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022851 MONDO:0002254 False Dennis-Fairhurst-Moore syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022859 MONDO:0005267 False cor biloculare heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022859 MONDO:0005267 False cor biloculare heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022901 MONDO:0001409 False Crohn disease of the esophagus esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022901 MONDO:0005011 False Crohn disease of the esophagus Crohn disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022904 MONDO:0005576 False cryofibrinogenemia cryoglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30577,7 +30600,7 @@ MONDO:0022936 MONDO:0002254 False de Hauwere Leroy adriaenssens syndrome syndrom MONDO:0022948 MONDO:0001083 False Deal Barratt Dillon syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022972 MONDO:0000620 False diabetic mastopathy breast benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022983 MONDO:0005380 False Dieterich disease osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0022986 MONDO:0005070 False diffuse idiopathic pulmonary neuroendocrine cell hyperplasia neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0022986 MONDO:0005070 False diffuse idiopathic pulmonary neuroendocrine cell hyperplasia neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022986 MONDO:0700007 False diffuse idiopathic pulmonary neuroendocrine cell hyperplasia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022991 MONDO:0019934 False diploid-triploid mosaicism polyploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0022993 MONDO:0040870 False dipsogenic diabetes insipidus primary polydipsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30588,7 +30611,7 @@ MONDO:0023007 MONDO:0002254 False Drachtman Weinblatt Sitarz syndrome syndromic MONDO:0023007 MONDO:0003225 False Drachtman Weinblatt Sitarz syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023011 MONDO:0005275 False Wilson-Mikity syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023013 MONDO:0002254 False Duker-Weiss-Siber syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023023 MONDO:0004926 False neonatal dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023023 MONDO:0004926 False neonatal dacryocystitis dacryocystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023035 MONDO:0002254 False Eagle syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023035 MONDO:0700057 False Eagle syndrome neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023039 MONDO:0024240 False eccrine mucinous carcinoma eccrine carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30597,18 +30620,18 @@ MONDO:0023043 MONDO:0019287 False ectodermal dysplasia alopecia preaxial polydac MONDO:0023050 MONDO:0002254 False ectrodactyly cardiopathy dysmorphism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023054 MONDO:0006496 False klumpke's paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023059 MONDO:0002254 False Elliott ludman Teebi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023069 MONDO:0002254 False enlarged vestibular aqueduct syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023069 MONDO:0002254 False enlarged vestibular aqueduct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0023069 MONDO:0024654 False enlarged vestibular aqueduct syndrome skull disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023073 MONDO:0006032 False eosinophilic cryptitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023076 MONDO:0006552 False eosinophilic pustular folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023076 MONDO:0006617 False eosinophilic pustular folliculitis vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023089 MONDO:0005070 False erythroplakia neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023089 MONDO:0005070 False erythroplakia neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023094 MONDO:0001910 False exogenous ochronosis ochronosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023106 MONDO:0005516 False Fairbank disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023111 MONDO:0002254 False familial capillaro-venous leptomeningeal angiomatosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023119 MONDO:0009692 False familial myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023121 MONDO:0003847 False familial partial paralysis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023122 MONDO:0003847 False familial prostate carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023122 MONDO:0003847 False familial prostate carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023129 MONDO:0015483 False Fara Chlupackova syndrome mandibulofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023133 MONDO:0002254 False Faye-Petersen-Ward-Carey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023134 MONDO:0024250 False febrile ulceronecrotic Mucha-Habermann disease acute lichenoid pityriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30619,9 +30642,9 @@ MONDO:0023153 MONDO:0000369 False tuberculous ascites abdominal tuberculosis UNS MONDO:0023154 MONDO:0002254 False fibromatosis multiple non ossifying syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023158 MONDO:0000922 False Fitz-Hugh-Curtis syndrome pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023158 MONDO:0002254 False Fitz-Hugh-Curtis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023161 MONDO:0004496 False viral myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023161 MONDO:0004496 False viral myocarditis myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023161 MONDO:0100329 False viral myocarditis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023164 MONDO:0005904 False viral pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023164 MONDO:0005904 False viral pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023164 MONDO:0100329 False viral pericarditis primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023165 MONDO:0001283 False florid cystic endosalpingiosis of the uterus endosalpingiosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023165 MONDO:0002654 False florid cystic endosalpingiosis of the uterus uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30639,7 +30662,7 @@ MONDO:0023209 MONDO:0014250 False galactorrhoea-hyperprolactinaemia familial hyp MONDO:0023212 MONDO:0002254 False Garret-Tripp syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023214 MONDO:0002254 False gas bloat syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023230 MONDO:0002254 False Ghose-Sachdev-Kumar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023232 MONDO:0002815 False giant cell myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023232 MONDO:0002815 False giant cell myocarditis acute myocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023238 MONDO:0006499 False giant mammary hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023243 MONDO:0000426 False glass-chapman-hockley syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023243 MONDO:0015469 False glass-chapman-hockley syndrome craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30657,10 +30680,10 @@ MONDO:0023288 MONDO:0002254 False green sandford davison syndrome syndromic dise MONDO:0023305 MONDO:0029000 False heavy metal poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023368 MONDO:0002254 False Ho-Kaufman-McAlister syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023388 MONDO:0005093 False pityriasis rotunda skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023415 MONDO:0002026 False congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023415 MONDO:0002026 False congenital candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023419 MONDO:0017355 False hyperprolinemia inborn disorder of proline metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023483 MONDO:0005550 False infectious myositis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023483 MONDO:0021167 False infectious myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023483 MONDO:0005550 False infectious myositis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023483 MONDO:0021167 False infectious myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023510 MONDO:0002254 False Jaffer-Beighton syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023510 MONDO:0008475 False Jaffer-Beighton syndrome spondylolisthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023513 MONDO:0009162 False Jeune syndrome situs inversus Ellis-van Creveld syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30677,9 +30700,9 @@ MONDO:0023541 MONDO:0002254 False Kasznica-Carlson-Coppedge syndrome syndromic d MONDO:0023543 MONDO:0002254 False Katsantoni-Papadakou-Lagoyanni syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023543 MONDO:0002917 False Katsantoni-Papadakou-Lagoyanni syndrome disorder of pilosebaceous unit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023551 MONDO:0005240 False C1q nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023554 MONDO:0002329 False acquired testicular failure testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023557 MONDO:0002234 False infective vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023557 MONDO:0005550 False infective vaginitis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023554 MONDO:0002329 False acquired testicular failure testicular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023557 MONDO:0002234 False infective vaginitis vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023557 MONDO:0005550 False infective vaginitis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0002254 False Kocher-debre-Semelaigne syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0003939 False Kocher-debre-Semelaigne syndrome muscle tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023558 MONDO:0018612 False Kocher-debre-Semelaigne syndrome congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30700,19 +30723,19 @@ MONDO:0023579 MONDO:0002254 False Kuster Majewski Hammerstein syndrome syndromic MONDO:0023581 MONDO:0002254 False Kuster syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023581 MONDO:0004747 False Kuster syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023581 MONDO:0016064 False Kuster syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023595 MONDO:0002320 False congenital myotonic dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023595 MONDO:0016107 False congenital myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023597 MONDO:0002354 False laryngeal papillomatosis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023597 MONDO:0002363 False laryngeal papillomatosis papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023599 MONDO:0005516 False mesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023601 MONDO:0018479 False non-classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023603 MONDO:0003847 False hereditary disorder of connective tissue hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023603 MONDO:0003900 False hereditary disorder of connective tissue connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023595 MONDO:0002320 False congenital myotonic dystrophy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023595 MONDO:0016107 False congenital myotonic dystrophy myotonic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023597 MONDO:0002354 False laryngeal papillomatosis benign laryngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023597 MONDO:0002363 False laryngeal papillomatosis papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023599 MONDO:0005516 False mesomelic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023601 MONDO:0018479 False non-classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023603 MONDO:0003847 False hereditary disorder of connective tissue hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023603 MONDO:0003900 False hereditary disorder of connective tissue connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023605 MONDO:0002254 False Laugier-Hunziker syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023607 MONDO:0002254 False Laurence-Prosser-Rocker syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023609 MONDO:0002254 False le Marec-Bracq-Picaud syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023628 MONDO:0002254 False levator syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023628 MONDO:0002519 False levator syndrome anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023628 MONDO:0002254 False levator syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023628 MONDO:0002519 False levator syndrome anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023642 MONDO:0001584 False Weber syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023646 MONDO:0002406 False lipodermatosclerosis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023646 MONDO:0006591 False lipodermatosclerosis panniculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30731,46 +30754,46 @@ MONDO:0023809 MONDO:0002254 False Milner-Khallouf-Gibson syndrome syndromic dise MONDO:0023820 MONDO:0002146 False Moebius axonal neuropathy hypogonadism hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023820 MONDO:0008006 False Moebius axonal neuropathy hypogonadism Mobius syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023833 MONDO:0001280 False multifocal choroiditis choroiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023865 MONDO:0003085 False corneal infection keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023865 MONDO:0016047 False corneal infection endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023865 MONDO:0003085 False corneal infection keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023865 MONDO:0016047 False corneal infection endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023868 MONDO:0005283 False melanoma associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023880 MONDO:0003847 False WHIM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023910 MONDO:0700247 False Martsolf syndrome RAB18 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023961 MONDO:0003847 False visceral neuropathy, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024183 MONDO:0005071 False wet beriberi nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024183 MONDO:0005071 False wet beriberi nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024189 MONDO:0003847 False neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024193 MONDO:0003847 False portal hypertension, noncirrhotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024235 MONDO:0006054 False Brenner tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024237 MONDO:0003847 False inherited neurodegenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024237 MONDO:0005559 False inherited neurodegenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024235 MONDO:0006054 False Brenner tumor reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024237 MONDO:0003847 False inherited neurodegenerative disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024237 MONDO:0005559 False inherited neurodegenerative disorder neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024238 MONDO:0005559 False cerebral degeneration neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024238 MONDO:0005560 False cerebral degeneration brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024239 MONDO:0004995 False congenital anomaly of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024239 MONDO:0004995 False congenital anomaly of cardiovascular system cardiovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024239 MONDO:0021147 False congenital anomaly of cardiovascular system disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024249 MONDO:0006547 False pityriasis lichenoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024249 MONDO:0006592 False pityriasis lichenoides parapsoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024249 MONDO:0019293 False pityriasis lichenoides skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024249 MONDO:0006547 False pityriasis lichenoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024249 MONDO:0006592 False pityriasis lichenoides parapsoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024249 MONDO:0019293 False pityriasis lichenoides skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024250 MONDO:0020683 False acute lichenoid pityriasis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024250 MONDO:0024249 False acute lichenoid pityriasis pityriasis lichenoides UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024251 MONDO:0005071 False Minamata disease nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024257 MONDO:0024237 False hereditary motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024257 MONDO:0024237 False hereditary motor neuron disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024262 MONDO:0024263 False massive neonatal aspiration syndrome neonatal aspiration syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024263 MONDO:0002254 False neonatal aspiration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024263 MONDO:0005275 False neonatal aspiration syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024268 MONDO:0000254 False superficial mycosis cutaneous mycosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024263 MONDO:0002254 False neonatal aspiration syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024263 MONDO:0005275 False neonatal aspiration syndrome lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024268 MONDO:0000254 False superficial mycosis cutaneous mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024270 MONDO:0005020 False parasitic intestinal disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024270 MONDO:0005135 False parasitic intestinal disorder parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024270 MONDO:0043424 False parasitic intestinal disorder digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024271 MONDO:0004664 False intestinal helminthiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024271 MONDO:0024270 False intestinal helminthiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024275 MONDO:0001955 False amebic dysentery protozoal dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024275 MONDO:0005644 False amebic dysentery amebiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024275 MONDO:0005644 False amebic dysentery amebiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024277 MONDO:0002049 False neonatal thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024278 MONDO:0005292 False proctocolitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024278 MONDO:0005538 False proctocolitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024279 MONDO:0000918 False chronic endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024280 MONDO:0005578 False polyarticular arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024281 MONDO:0024280 False juvenile chronic polyarthritis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024278 MONDO:0005292 False proctocolitis colitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024278 MONDO:0005538 False proctocolitis proctitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024279 MONDO:0000918 False chronic endometritis endometritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024280 MONDO:0005578 False polyarticular arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024281 MONDO:0024280 False juvenile chronic polyarthritis polyarticular arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0006552 False Demodex folliculitis folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0017280 False Demodex folliculitis demodicidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024283 MONDO:0021201 False Demodex folliculitis skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30778,17 +30801,17 @@ MONDO:0024283 MONDO:0024610 False Demodex folliculitis parasitic skin disorder U MONDO:0024285 MONDO:0019464 False epsilon-heavy chain disease heavy chain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024287 MONDO:0024291 False congenital vascular malformation vascular malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024288 MONDO:0024431 False hyperbilirubinemia bilirubin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024290 MONDO:0002025 False enuresis psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024290 MONDO:0002025 False enuresis psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024291 MONDO:0005385 False vascular malformation vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024292 MONDO:0004335 False gastrointestinal polyp digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024292 MONDO:0005079 False gastrointestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024292 MONDO:0004335 False gastrointestinal polyp digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024292 MONDO:0005079 False gastrointestinal polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024294 MONDO:0005093 False skin disorder caused by infection skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024294 MONDO:0005550 False skin disorder caused by infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024295 MONDO:0005113 False skin disease caused by bacterial infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024295 MONDO:0024294 False skin disease caused by bacterial infection skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024298 MONDO:0006873 False vitamin deficiency disorder nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024299 MONDO:0005520 False vitamin D-dependent rickets rickets UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024300 MONDO:0005520 False hypophosphatemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024298 MONDO:0006873 False vitamin deficiency disorder nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024299 MONDO:0005520 False vitamin D-dependent rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024300 MONDO:0005520 False hypophosphatemic rickets rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024301 MONDO:0000226 False acquired mineral metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024302 MONDO:0001191 False internal hirudiniasis hirudiniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024302 MONDO:0044991 False internal hirudiniasis upper digestive tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30800,43 +30823,43 @@ MONDO:0024308 MONDO:0002051 False pseudoxanthoma elasticum (inherited or acquire MONDO:0024310 MONDO:0002322 False angiodysplasia of stomach angiodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024310 MONDO:0004298 False angiodysplasia of stomach stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024311 MONDO:0002129 False cancer affecting bone of limb skeleton bone cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024313 MONDO:0005113 False staphylococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024313 MONDO:0005113 False staphylococcal infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024314 MONDO:0005135 False parasitemia parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024314 MONDO:0005570 False parasitemia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024315 MONDO:0016047 False parasitic endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024315 MONDO:0016047 False parasitic endophthalmitis endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024315 MONDO:0020947 False parasitic endophthalmitis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024316 MONDO:0003117 False physiological malfunction arising from mental factor somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024316 MONDO:0003117 False physiological malfunction arising from mental factor somatoform disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024317 MONDO:0700057 False chronic pain syndrome neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024318 MONDO:0005108 False viral infection of central nervous system viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024318 MONDO:0024619 False viral infection of central nervous system central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024325 MONDO:0002295 False cutaneous glomangiomyoma skin glomus tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024325 MONDO:0024323 False cutaneous glomangiomyoma glomangiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024326 MONDO:0002373 False pleural adenomatoid tumor benign mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024327 MONDO:0001106 False chronic renal failure syndrome kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024327 MONDO:0005300 False chronic renal failure syndrome chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024330 MONDO:0005441 False infectious otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024330 MONDO:0021666 False infectious otitis media ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024332 MONDO:0011786 False perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024327 MONDO:0001106 False chronic renal failure syndrome kidney failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024327 MONDO:0005300 False chronic renal failure syndrome chronic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024330 MONDO:0005441 False infectious otitis media otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024330 MONDO:0021666 False infectious otitis media ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024332 MONDO:0011786 False perennial allergic rhinitis allergic rhinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0006960 False sciatica sciatic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024333 MONDO:0021667 False sciatica neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024335 MONDO:0005885 False retrobulbar neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024340 MONDO:0021231 False retinal neuroblastoma retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024340 MONDO:0021231 False retinal neuroblastoma retina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024343 MONDO:0006547 False pityriasis simplex exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024344 MONDO:0006547 False pityriasis folliculorum exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024345 MONDO:0006547 False pityriasis streptogenes exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024346 MONDO:0006547 False pityriasis amiantacea exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024349 MONDO:0006547 False pityriasis alba exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024350 MONDO:0006547 False pityriasis steatoides exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024352 MONDO:0005108 False viral respiratory tract infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024352 MONDO:0005108 False viral respiratory tract infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024352 MONDO:0024355 False viral respiratory tract infection respiratory tract infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024354 MONDO:0005132 False cytomegalovirus pneumonia cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024354 MONDO:0005132 False cytomegalovirus pneumonia cytomegalovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024354 MONDO:0006012 False cytomegalovirus pneumonia viral pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024355 MONDO:0005087 False respiratory tract infectious disorder respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024355 MONDO:0005550 False respiratory tract infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024356 MONDO:0004731 False primary central sleep apnea syndrome central sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024357 MONDO:0004731 False drug induced central sleep apnea central sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024358 MONDO:0004731 False complex sleep apnea central sleep apnea syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024358 MONDO:0007147 False complex sleep apnea obstructive sleep apnea syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024358 MONDO:0004731 False complex sleep apnea central sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024358 MONDO:0007147 False complex sleep apnea obstructive sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024359 MONDO:0004731 False central sleep apnea due to periodic breathing central sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024360 MONDO:0004731 False central sleep apnea caused by high altitude central sleep apnea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024363 MONDO:0005937 False rapid eye movement sleep disorder REM sleep behavior disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30858,17 +30881,17 @@ MONDO:0024416 MONDO:0006922 False Neorickettsia infectious disease Anaplasmatace MONDO:0024417 MONDO:0002025 False perceptual disorders psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024417 MONDO:0005071 False perceptual disorders nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024419 MONDO:0002183 False enthesitis enthesopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024419 MONDO:0021166 False enthesitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024419 MONDO:0021166 False enthesitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024422 MONDO:0005084 False auditory perceptual disorders mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024422 MONDO:0021945 False auditory perceptual disorders hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024429 MONDO:0002254 False Alice in Wonderland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024429 MONDO:0021084 False Alice in Wonderland syndrome vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024422 MONDO:0021945 False auditory perceptual disorders hearing disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024429 MONDO:0002254 False Alice in Wonderland syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024429 MONDO:0021084 False Alice in Wonderland syndrome vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024430 MONDO:0024417 False allesthesia perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024431 MONDO:0005066 False bilirubin metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024432 MONDO:0005244 False nerve plexus disorder peripheral neuropathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024432 MONDO:0005244 False nerve plexus disorder peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024454 MONDO:0001829 False sacral nerve plexus disorder lumbosacral plexus lesion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024455 MONDO:0008389 False autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024456 MONDO:0002289 False anterior segment dysgenesis 3 iris disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024456 MONDO:0002289 False anterior segment dysgenesis 3 iris disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024456 MONDO:0018174 False anterior segment dysgenesis 3 hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024456 MONDO:0100235 False anterior segment dysgenesis 3 FOXC1-related anterior segment dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024458 MONDO:0700096 False disorder of visual system human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30880,28 +30903,28 @@ MONDO:0024467 MONDO:0006615 False apocrine sweat gland disorder sweat gland diso MONDO:0024468 MONDO:0003381 False anterior pituitary gland disorder pituitary gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024472 MONDO:0005677 False boutonneuse fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024473 MONDO:0005677 False Astrakhan spotted fever Rickettsia conorii infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024477 MONDO:0002082 False liver and intrahepatic bile duct neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024478 MONDO:0006499 False mesenchymal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024477 MONDO:0002082 False liver and intrahepatic bile duct neoplasm endocrine gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024478 MONDO:0006499 False mesenchymal hamartoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024480 MONDO:0003382 False dermatosis of eyelid eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024481 MONDO:0002051 False skin appendage disorder integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024482 MONDO:0002090 False eccrine sweat gland hamartoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024482 MONDO:0021539 False eccrine sweat gland hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024483 MONDO:0002118 False urothelial hyperplasia urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024483 MONDO:0005043 False urothelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024485 MONDO:0024483 False papillary urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024482 MONDO:0002090 False eccrine sweat gland hamartoma eccrine sweat gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024482 MONDO:0021539 False eccrine sweat gland hamartoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024483 MONDO:0002118 False urothelial hyperplasia urinary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024483 MONDO:0005043 False urothelial hyperplasia hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024485 MONDO:0024483 False papillary urothelial hyperplasia urothelial hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024487 MONDO:0002884 False nail infection nail disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024487 MONDO:0005550 False nail infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024487 MONDO:0005550 False nail infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024489 MONDO:0024488 False general tumor grading characteristic tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024491 MONDO:0024495 False tumor grade 1, general grading system tumor grade 1 or 2, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024492 MONDO:0024495 False tumor grade 2, general grading system tumor grade 1 or 2, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024492 MONDO:0024496 False tumor grade 2, general grading system tumor grade 2 or 3, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024493 MONDO:0024496 False tumor grade 3, general grading system tumor grade 2 or 3, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024493 MONDO:0024497 False tumor grade 3, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024494 MONDO:0024497 False tumor grade 4, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024496 MONDO:0024489 False tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024497 MONDO:0024489 False tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024501 MONDO:0002882 False appendix neuroendocrine neoplasm colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024504 MONDO:0021535 False enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024492 MONDO:0024496 False tumor grade 2, general grading system tumor grade 2 or 3, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024493 MONDO:0024496 False tumor grade 3, general grading system tumor grade 2 or 3, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024493 MONDO:0024497 False tumor grade 3, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024494 MONDO:0024497 False tumor grade 4, general grading system tumor grade 3 or 4, general grading system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024496 MONDO:0024489 False tumor grade 2 or 3, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024497 MONDO:0024489 False tumor grade 3 or 4, general grading system general tumor grading characteristic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024501 MONDO:0002882 False appendix neuroendocrine neoplasm colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024504 MONDO:0021535 False enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024506 MONDO:0019713 False Adams-Oliver syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024512 MONDO:0020573 False spondyloarthropathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024516 MONDO:0006559 False familial acne inversa hidradenitis suppurativa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30920,33 +30943,33 @@ MONDO:0024545 MONDO:0016145 False Miyoshi muscular dystrophy 1 qualitative or qu MONDO:0024551 MONDO:0020605 False X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024561 MONDO:0011979 False vitelliform macular dystrophy 3 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024563 MONDO:0015979 False herpes simplex encephalitis, susceptibility to, 1 hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024569 MONDO:0014720 False optic atrophy 8 autosomal dominant optic atrophy plus syndrome UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024569 MONDO:0014720 False optic atrophy 8 autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024570 MONDO:0015027 False hyperparathyroidism 4 familial isolated hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0019060 False hyperparathyroidism 4 bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0023603 False hyperparathyroidism 4 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024570 MONDO:0800096 False hyperparathyroidism 4 abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024571 MONDO:0021674 False AIDS-related disorder post-viral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024571 MONDO:0024572 False AIDS-related disorder immunodeficiency-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024572 MONDO:0005046 False immunodeficiency-related disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024571 MONDO:0024572 False AIDS-related disorder immunodeficiency-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024572 MONDO:0005046 False immunodeficiency-related disorder immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024573 MONDO:0005217 False familial hypertrophic cardiomyopathy familial cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024574 MONDO:0002242 False von Willebrand disease (hereditary or acquired) coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024574 MONDO:0002242 False von Willebrand disease (hereditary or acquired) coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024575 MONDO:0700003 False pregnancy disorder obstetric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024608 MONDO:0024270 False dientamoebiasis parasitic intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024610 MONDO:0005135 False parasitic skin disorder parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024610 MONDO:0024294 False parasitic skin disorder skin disorder caused by infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0002022 False orbit neoplasm disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024611 MONDO:0023369 False orbit neoplasm disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024611 MONDO:0024653 False orbit neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024612 MONDO:0004985 False manic bipolar affective disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024613 MONDO:0002050 False bipolar depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024613 MONDO:0004985 False bipolar depression bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024614 MONDO:0002050 False neurotic depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024611 MONDO:0024653 False orbit neoplasm skull neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024612 MONDO:0004985 False manic bipolar affective disorder bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024613 MONDO:0002050 False bipolar depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024613 MONDO:0004985 False bipolar depression bipolar disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024614 MONDO:0002050 False neurotic depression depressive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024616 MONDO:0003648 False tympanitis tympanic membrane disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024616 MONDO:0005441 False tympanitis otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024617 MONDO:0015531 False xanthogranuloma non-Langerhans cell histiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024618 MONDO:0005747 False poliovirus infection enterovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024619 MONDO:0002602 False central nervous system infectious disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024619 MONDO:0020010 False central nervous system infectious disorder infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024619 MONDO:0002602 False central nervous system infectious disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024619 MONDO:0020010 False central nervous system infectious disorder infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0004796 False meningitis caused by poliovirus infectious meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0024318 False meningitis caused by poliovirus viral infection of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024620 MONDO:0024618 False meningitis caused by poliovirus poliovirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30961,48 +30984,48 @@ MONDO:0024634 MONDO:0005020 False large intestine disorder intestinal disorder U MONDO:0024635 MONDO:0005020 False small intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0005267 False inflammation of heart layer heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0021166 False inflammation of heart layer inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024643 MONDO:0005267 False myocardial disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024644 MONDO:0005053 False myocardial ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024644 MONDO:0024643 False myocardial ischemia myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024643 MONDO:0005267 False myocardial disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024644 MONDO:0005053 False myocardial ischemia ischemic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024644 MONDO:0024643 False myocardial ischemia myocardial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024648 MONDO:0000642 False optic tract meningioma brain meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024648 MONDO:0001834 False optic tract meningioma visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024648 MONDO:0001834 False optic tract meningioma visual pathway disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024649 MONDO:0000649 False optic tract astrocytoma sensory system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024649 MONDO:0003169 False optic tract astrocytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024649 MONDO:0003169 False optic tract astrocytoma diencephalic astrocytomas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024650 MONDO:0005298 False drug-induced osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024651 MONDO:0024650 False corticosteroid-induced osteoporosis drug-induced osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024652 MONDO:0002156 False embryonic cyst of fallopian tube fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024653 MONDO:0019060 False skull neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024653 MONDO:0019060 False skull neoplasm bone neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024654 MONDO:0005381 False skull disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024655 MONDO:0005904 False rheumatic pericarditis pericarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024655 MONDO:0006955 False rheumatic pericarditis rheumatic heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024658 MONDO:0002862 False extrahepatic bile duct sarcoma bile duct sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024659 MONDO:0024634 False colorectal Kaposi sarcoma large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024659 MONDO:0043424 False colorectal Kaposi sarcoma digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024663 MONDO:0003363 False primary skin meningioma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024659 MONDO:0043424 False colorectal Kaposi sarcoma digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024663 MONDO:0003363 False primary skin meningioma malignant dermis tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024663 MONDO:0004429 False primary skin meningioma skin meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024664 MONDO:0005044 False hypertension, pregnancy-induced hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024664 MONDO:0024575 False hypertension, pregnancy-induced pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024664 MONDO:0005044 False hypertension, pregnancy-induced hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024664 MONDO:0024575 False hypertension, pregnancy-induced pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024665 MONDO:0002145 False indeterminate sex and/or pseudohermaphroditism disorder of sexual differentiation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024673 MONDO:0024666 False skin lymphangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024674 MONDO:0021058 False Pancoast syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024674 MONDO:0024882 False Pancoast syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024686 MONDO:0000631 False tenosynovial giant cell tumor, diffuse type bone benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024686 MONDO:0005554 False tenosynovial giant cell tumor, diffuse type rheumatic disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024857 MONDO:0003514 False immature extragonadal teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024857 MONDO:0003578 False immature extragonadal teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024673 MONDO:0024666 False skin lymphangioma benign epithelial skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024674 MONDO:0021058 False Pancoast syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024674 MONDO:0024882 False Pancoast syndrome secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024686 MONDO:0000631 False tenosynovial giant cell tumor, diffuse type bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024686 MONDO:0005554 False tenosynovial giant cell tumor, diffuse type rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0024857 MONDO:0003514 False immature extragonadal teratoma malignant teratoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024857 MONDO:0003578 False immature extragonadal teratoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024863 MONDO:0003927 False small size posterior uveal melanoma posterior uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024864 MONDO:0003927 False medium/large size posterior uveal melanoma posterior uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024868 MONDO:0004202 False metastatic carcinoma in the adrenal medulla adrenal medulla carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024876 MONDO:0100010 False tendon sheath disorder tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024877 MONDO:0021049 False clitoris neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024882 MONDO:0023370 False secondary neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024883 MONDO:0024882 False metastatic neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024883 MONDO:0024882 False metastatic neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024884 MONDO:0002415 False metastatic carcinoma in the bone bone carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024889 MONDO:0002513 False benign mesonephroma kidney benign neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024889 MONDO:0002513 False benign mesonephroma kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024889 MONDO:0024888 False benign mesonephroma mesonephric neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024889 MONDO:0036976 False benign mesonephroma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024891 MONDO:0021108 False non-infectious meningitis meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024892 MONDO:0006424 False soft tissue amyloid neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024892 MONDO:0006424 False soft tissue amyloid neoplasm soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024893 MONDO:0005988 False toxocara canis infection (canine roundworms) toxocariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024905 MONDO:0005583 False bird disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024912 MONDO:0005583 False cat disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31029,7 +31052,7 @@ MONDO:0024973 MONDO:0005678 False pneumonia, atypical interstitial, of cattle bo MONDO:0024981 MONDO:0005583 False rodent disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024982 MONDO:0700050 False salmonella infections, animal bacterial infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024985 MONDO:0005583 False sheep disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024988 MONDO:0006055 False sex cord-stromal benign neoplasm sex cord-stromal tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024988 MONDO:0006055 False sex cord-stromal benign neoplasm sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024990 MONDO:0005583 False swine disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025003 MONDO:0005583 False goat disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025013 MONDO:0005583 False non-human primate disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31121,7 +31144,7 @@ MONDO:0025431 MONDO:0024913 False keratoconjunctivitis, infectious cattle diseas MONDO:0025431 MONDO:0024985 False keratoconjunctivitis, infectious sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025431 MONDO:0025003 False keratoconjunctivitis, infectious goat disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025431 MONDO:1011329 False keratoconjunctivitis, infectious keratoconjunctivitis, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025445 MONDO:0015168 False Wieacker-Wolff syndrome (spectrum) arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025445 MONDO:0015168 False Wieacker-Wolff syndrome (spectrum) arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0025445 MONDO:0700223 False Wieacker-Wolff syndrome (spectrum) hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025449 MONDO:0024913 False paratuberculosis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025453 MONDO:0024985 False pneumonia, progressive interstitial, of sheep sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31149,22 +31172,22 @@ MONDO:0025506 MONDO:0024990 False porcine postweaning multisystemic wasting synd MONDO:0025506 MONDO:0700049 False porcine postweaning multisystemic wasting syndrome infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025513 MONDO:0005492 False autoimmune urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025513 MONDO:0007179 False autoimmune urticaria autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025514 MONDO:0005093 False livedoid vasculopathy skin disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025598 MONDO:0005701 False pneumonia caused by chlamydia chlamydia trachomatis infectious disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025514 MONDO:0005093 False livedoid vasculopathy skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0025598 MONDO:0005701 False pneumonia caused by chlamydia chlamydia trachomatis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0025598 MONDO:0041850 False pneumonia caused by chlamydia pneumonia caused by gram negative bacteria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0025622 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0025622 MONDO:0015626 False Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0025667 MONDO:0000942 False limbal stem cell deficiency corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025986 MONDO:0002254 False megacystis-microcolon-intestinal hypoperistalsis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025986 MONDO:0003847 False megacystis-microcolon-intestinal hypoperistalsis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0025986 MONDO:0021189 False megacystis-microcolon-intestinal hypoperistalsis syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026763 MONDO:0020605 False holoprosencephaly 13, X-linked X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027026 MONDO:0005647 False Buschke Lowenstein tumor anogenital human papillomavirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0027026 MONDO:0006006 False Buschke Lowenstein tumor verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027026 MONDO:0005647 False Buschke Lowenstein tumor anogenital human papillomavirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0027026 MONDO:0006006 False Buschke Lowenstein tumor verrucous carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027068 MONDO:0100134 False mitochondrial complex 1 deficiency, mitochondrial type 1 mitochondrial complex I deficiency, mitochondrial type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027091 MONDO:0006969 False xanthogranulomatous sialadenitis sialadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027451 MONDO:0019573 False autosomal recessive cutis laxa type 2D autosomal recessive cutis laxa type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31185,15 +31208,14 @@ MONDO:0028226 MONDO:0006025 False autosomal recessive severe congenital neutrope MONDO:0029000 MONDO:0700096 False poisoning human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029130 MONDO:0019673 False polydactyly, postaxial, type A8 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029131 MONDO:0003847 False peripheral neuropathy, autosomal recessive, with or without impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029134 MONDO:0015974 False severe combined immunodeficiency due to CARMIL2 deficiency severe combined immunodeficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0029134 MONDO:0015974 False severe combined immunodeficiency due to CARMIL2 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0029135 MONDO:0700075 False muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 congenital muscular dystrophy caused by variation in POMGNT2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029136 MONDO:0100228 False muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029140 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 18 inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0029140 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 18 congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0029140 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 18 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0029140 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 18 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0029140 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 18 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029143 MONDO:0003847 False intellectual developmental disorder with hypertelorism and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029144 MONDO:0003847 False extraoral halitosis due to methanethiol oxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030005 MONDO:0003847 False epilepsy, early-onset, with or without developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030012 MONDO:0003847 False Diets-Jongmans syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030018 MONDO:0003847 False autoinflammation with episodic fever and lymphadenopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030024 MONDO:0100500 False neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31220,10 +31242,10 @@ MONDO:0030051 MONDO:0003847 False intellectual developmental disorder with autis MONDO:0030057 MONDO:0003847 False neurodevelopmental, jaw, eye, and digital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030060 MONDO:0100500 False neurodevelopmental disorder with language impairment and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030063 MONDO:0100500 False neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030065 MONDO:0003847 False agenesis of corpus callosum, cardiac, ocular, and genital syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030065 MONDO:0003847 False agenesis of corpus callosum, cardiac, ocular, and genital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030073 MONDO:0100306 False Mitchell syndrome disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030105 MONDO:0800152 False galactosemia 4 disorder of galactose and fructose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030309 MONDO:0100223 False Leber hereditary optic neuropathy, autosomal recessive mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030309 MONDO:0100223 False Leber hereditary optic neuropathy, autosomal recessive mitochondrial complex I deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030313 MONDO:0800174 False encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030334 MONDO:0800174 False encephalitis, acute, infection (viral)-induced, susceptibility to, 11 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030341 MONDO:0002320 False myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31231,21 +31253,21 @@ MONDO:0030434 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibili MONDO:0030502 MONDO:0700064 False tetrasomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030602 MONDO:0030603 False Klebsiella pneumonia Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030603 MONDO:0005113 False Klebsiella infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030639 MONDO:0003847 False Teebi hypertelorism syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030681 MONDO:0018037 False immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030700 MONDO:0002462 False autoimmune glomerulonephritis glomerulonephritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030701 MONDO:0000589 False autoimmune cardiomyopathy autoimmune disorder of musculoskeletal system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030701 MONDO:0004994 False autoimmune cardiomyopathy cardiomyopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030702 MONDO:0005311 False autoimmune atherosclerosis atherosclerosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030703 MONDO:0018882 False autoimmune vasculitis vasculitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030705 MONDO:0002154 False Trichomonas prostatitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030705 MONDO:0005280 False Trichomonas prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030706 MONDO:0005993 False Trichomonas cystitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030706 MONDO:0006032 False Trichomonas cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030639 MONDO:0003847 False Teebi hypertelorism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030681 MONDO:0018037 False immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030700 MONDO:0002462 False autoimmune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030701 MONDO:0000589 False autoimmune cardiomyopathy autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030701 MONDO:0004994 False autoimmune cardiomyopathy cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030702 MONDO:0005311 False autoimmune atherosclerosis atherosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030703 MONDO:0018882 False autoimmune vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030705 MONDO:0002154 False Trichomonas prostatitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030705 MONDO:0005280 False Trichomonas prostatitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030706 MONDO:0005993 False Trichomonas cystitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030706 MONDO:0006032 False Trichomonas cystitis cystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030707 MONDO:0001618 False Trichomonas balanoposthitis balanoposthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030707 MONDO:0002154 False Trichomonas balanoposthitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030708 MONDO:0002154 False Trichomonas cervicitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030708 MONDO:0002345 False Trichomonas cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030707 MONDO:0002154 False Trichomonas balanoposthitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030708 MONDO:0002154 False Trichomonas cervicitis trichomoniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030708 MONDO:0002345 False Trichomonas cervicitis cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0005993 False trichomonal vulvovaginitis Trichomonas vaginitis urogenital infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0007019 False trichomonal vulvovaginitis vulvovaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030720 MONDO:0023557 False trichomonal vulvovaginitis infective vaginitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31261,21 +31283,21 @@ MONDO:0030859 MONDO:0100349 False COACH syndrome 2 COACH syndrome UNSUPPORTED-MI MONDO:0030860 MONDO:0100350 False neuronopathy, distal hereditary motor, type 5C neuronopathy, distal hereditary motor, type 5 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030862 MONDO:0100349 False COACH syndrome 3 COACH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030866 MONDO:0100500 False neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030872 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 8 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030872 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 8 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030873 MONDO:0003847 False cardiofacioneurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030875 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 5 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030875 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 5 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030878 MONDO:0003847 False Kaya-Barakat-Masson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030880 MONDO:0003847 False mandibuloacral dysplasia progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030893 MONDO:0003847 False leukoencephalopathy, progressive, infantile-onset, with or without deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030896 MONDO:0016911 False chromosome 13q33-q34 deletion syndrome partial deletion of the long arm of chromosome 13 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030897 MONDO:0003847 False Lessel-Kreienkamp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030900 MONDO:0003847 False intellectual developmental disorder with paroxysmal dyskinesia or seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030912 MONDO:0002320 False intellectual disability, autosomal dominant 47 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030913 MONDO:0000508 False intellectual disability, autosomal dominant 48 syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030913 MONDO:0002320 False intellectual disability, autosomal dominant 48 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030912 MONDO:0002320 False intellectual disability, autosomal dominant 47 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030913 MONDO:0000508 False intellectual disability, autosomal dominant 48 syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0030913 MONDO:0002320 False intellectual disability, autosomal dominant 48 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030923 MONDO:0024237 False frontotemporal dementia and/or amyotrophic lateral sclerosis inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030928 MONDO:0007988 False microcephaly 26, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030929 MONDO:0007988 False microcephaly 27, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030928 MONDO:0007988 False microcephaly 26, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0030929 MONDO:0007988 False microcephaly 27, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030930 MONDO:0100500 False neurodevelopmental disorder with or without early-onset generalized epilepsy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030947 MONDO:0003847 False neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030963 MONDO:0003847 False Li-Campeau syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31284,7 +31306,7 @@ MONDO:0030967 MONDO:0003847 False deafness, congenital, and adult-onset progress MONDO:0030976 MONDO:0003847 False oculomotor-abducens synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030978 MONDO:0003847 False endove syndrome, limb-only type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030979 MONDO:0003847 False endove syndrome, limb-brain type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030981 MONDO:0015974 False immunodeficiency 79 severe combined immunodeficiency UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030981 MONDO:0015974 False immunodeficiency 79 severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030982 MONDO:0019052 False sulfide quinone oxidoreductase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030986 MONDO:0003847 False blistering, acantholytic, of oral and laryngeal mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030987 MONDO:0003847 False vertebral, cardiac, tracheoesophageal, renal, and limb defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31298,22 +31320,22 @@ MONDO:0030999 MONDO:0100500 False neurodevelopmental disorder with cerebral atro MONDO:0031001 MONDO:0003847 False vitreoretinopathy with phalangeal epiphyseal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031002 MONDO:0003847 False Baralle-Macken syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031006 MONDO:0003847 False neurodegeneration with ataxia and late-onset optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031007 MONDO:0002320 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031007 MONDO:0002320 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031007 MONDO:0800101 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031008 MONDO:0005377 False nephrotic syndrome, type 24 nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031011 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031012 MONDO:0020283 False autoimmune uveitis uveitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031013 MONDO:0000568 False autoimmune optic neuritis autoimmune disorder of central nervous system UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031013 MONDO:0005885 False autoimmune optic neuritis optic neuritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031014 MONDO:0004966 False autoimmune gastritis gastritis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031012 MONDO:0020283 False autoimmune uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031013 MONDO:0000568 False autoimmune optic neuritis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031013 MONDO:0005885 False autoimmune optic neuritis optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0031014 MONDO:0004966 False autoimmune gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031037 MONDO:0000820 False famililal cerebral cavernous malformations cerebral cavernous malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031037 MONDO:0003847 False famililal cerebral cavernous malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031115 MONDO:0003847 False dyskinesia with orofacial involvement hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031166 MONDO:0020242 False macular dystrophy, retinal hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031169 MONDO:0016763 False odontochondrodysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031169 MONDO:0016763 False odontochondrodysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0031199 MONDO:0003847 False inherited interstitial lung disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031200 MONDO:0003847 False Bryant-Li-Bhoj neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031213 MONDO:0003847 False restrictive dermopathy hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031213 MONDO:0003847 False restrictive dermopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031219 MONDO:0021190 False mismatch repair cancer syndrome DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031230 MONDO:0009637 False mitochondrial complex II deficiency, nuclear type inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031240 MONDO:0003847 False familial panic disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31322,7 +31344,7 @@ MONDO:0031257 MONDO:0006932 False high altitude pulmonary edema pulmonary edema MONDO:0031280 MONDO:0003847 False Stuve-Wiedemann syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031322 MONDO:0002285 False triopia pupil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031323 MONDO:0003847 False cardiac valvular defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031329 MONDO:0003847 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031329 MONDO:0003847 False craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031376 MONDO:0019052 False congenital disorder of deglycosylation inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031384 MONDO:0019751 False autoinflammatory syndrome, familial, Behcet-like autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031384 MONDO:0023603 False autoinflammatory syndrome, familial, Behcet-like hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31333,7 +31355,7 @@ MONDO:0031422 MONDO:0019248 False familial mucolipidosis mucolipidosis UNSUPPORT MONDO:0031432 MONDO:0003847 False thyroid hormone metabolism, abnormal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031432 MONDO:0005151 False thyroid hormone metabolism, abnormal endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031439 MONDO:0003847 False short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031447 MONDO:0100241 False macrothrombocytopenia, isolated inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031447 MONDO:0100241 False macrothrombocytopenia, isolated inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0031520 MONDO:0015974 False familial severe combined immunodeficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031615 MONDO:0019698 False familial bent bone dysplasia syndrome bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031632 MONDO:0003847 False developmental delay with short stature, dysmorphic facial features, and sparse hair hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31342,9 +31364,9 @@ MONDO:0032485 MONDO:0015802 False intellectual developmental disorder 61 autosom MONDO:0032565 MONDO:0003847 False ophthalmoplegia, external, with rib and vertebral anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032566 MONDO:0700092 False squalene synthase deficiency neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032568 MONDO:0003847 False intellectual developmental disorder with macrocephaly, seizures, and speech delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032569 MONDO:0000050 False isolated growth hormone deficiency, type 5 isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032569 MONDO:0000050 False isolated growth hormone deficiency, type 5 isolated congenital growth hormone deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0032571 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Krakow type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032572 MONDO:0003847 False cardiac, facial, and digital anomalies with developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032572 MONDO:0003847 False cardiac, facial, and digital anomalies with developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032574 MONDO:0003847 False osteochondrodysplasia, brachydactyly, and overlapping malformed digits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032579 MONDO:0003847 False warburg-cinotti syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032591 MONDO:0800096 False hyperparathyroidism, transient neonatal abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31373,7 +31395,7 @@ MONDO:0032681 MONDO:0100198 False encephalopathy, progressive, early-onset, with MONDO:0032684 MONDO:0800063 False intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032685 MONDO:0003847 False infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032688 MONDO:0003847 False polymicrogyria with or without vascular-type Ehlers-Danlos syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032690 MONDO:0003847 False microcephaly, growth deficiency, seizures, and brain malformations hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032690 MONDO:0003847 False microcephaly, growth deficiency, seizures, and brain malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032697 MONDO:0100500 False neurodevelopmental disorder and language delay with or without structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032698 MONDO:0100500 False neurodevelopmental disorder with central and peripheral motor dysfunction Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032699 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 15 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31413,8 +31435,8 @@ MONDO:0032795 MONDO:0015802 False intellectual developmental disorder 59 autosom MONDO:0032798 MONDO:0003847 False ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032805 MONDO:0003847 False hypopigmentation, organomegaly, and delayed myelination and development hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032807 MONDO:0100500 False neurodevelopmental disorder with visual defects and brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032808 MONDO:0002320 False developmental and epileptic encephalopathy, 77 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032808 MONDO:0015286 False developmental and epileptic encephalopathy, 77 congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032808 MONDO:0002320 False developmental and epileptic encephalopathy, 77 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032808 MONDO:0015286 False developmental and epileptic encephalopathy, 77 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032808 MONDO:0015327 False developmental and epileptic encephalopathy, 77 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032808 MONDO:0024321 False developmental and epileptic encephalopathy, 77 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032809 MONDO:0020573 False hepatitis, fulminant viral, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31426,9 +31448,9 @@ MONDO:0032816 MONDO:0100500 False neurodevelopmental disorder with ataxia, hypot MONDO:0032817 MONDO:0100500 False neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032818 MONDO:0100500 False neurodevelopmental disorder with cerebellar hypoplasia and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032820 MONDO:0100500 False neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032822 MONDO:0002320 False developmental and epileptic encephalopathy, 80 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032822 MONDO:0002525 False developmental and epileptic encephalopathy, 80 inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032822 MONDO:0015286 False developmental and epileptic encephalopathy, 80 congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032822 MONDO:0002320 False developmental and epileptic encephalopathy, 80 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032822 MONDO:0002525 False developmental and epileptic encephalopathy, 80 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0032822 MONDO:0015286 False developmental and epileptic encephalopathy, 80 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032822 MONDO:0024321 False developmental and epileptic encephalopathy, 80 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032823 MONDO:0015802 False intellectual developmental disorder 60 with seizures autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032824 MONDO:0003847 False glycosylphosphatidylinositol biosynthesis defect 21 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31465,7 +31487,7 @@ MONDO:0032888 MONDO:0100500 False neurodevelopmental disorder with brain anomali MONDO:0032889 MONDO:0100500 False Poirier-Bienvenu neurodevelopmental syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032890 MONDO:0003847 False neuromuscular disease and ocular or auditory anomalies with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032892 MONDO:0003847 False structural brain anomalies with impaired intellectual development and craniosynostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032893 MONDO:0003847 False pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032893 MONDO:0003847 False pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0032894 MONDO:0100500 False neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032897 MONDO:0003847 False intellectual developmental disorder with hypotonia and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032900 MONDO:0100500 False neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31493,13 +31515,13 @@ MONDO:0032943 MONDO:0100500 False neurodevelopmental disorder with relative macr MONDO:0033169 MONDO:0029000 False curariform drugs toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033170 MONDO:0029000 False statin toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033181 MONDO:0029000 False phenytoin or carbamazepine toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033203 MONDO:0015905 False nephrotic syndrome 14 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033203 MONDO:0015905 False nephrotic syndrome 14 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033203 MONDO:0044765 False nephrotic syndrome 14 steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033352 MONDO:0002320 False neuropathy, congenital hypomelinating congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033352 MONDO:0020127 False neuropathy, congenital hypomelinating hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033364 MONDO:0002320 False developmental and epileptic encephalopathy, 55 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033364 MONDO:0002525 False developmental and epileptic encephalopathy, 55 inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033364 MONDO:0015286 False developmental and epileptic encephalopathy, 55 congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033364 MONDO:0002320 False developmental and epileptic encephalopathy, 55 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033364 MONDO:0002525 False developmental and epileptic encephalopathy, 55 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0033364 MONDO:0015286 False developmental and epileptic encephalopathy, 55 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0033364 MONDO:0024321 False developmental and epileptic encephalopathy, 55 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033492 MONDO:0700120 False Coffin-Siris syndrome 6 BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033532 MONDO:0003847 False Suleiman-El-Hattab syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31509,14 +31531,14 @@ MONDO:0033546 MONDO:0003847 False neurodegeneration, infantile-onset, biotin-res MONDO:0033547 MONDO:0003847 False Li-Ghorbani-Weisz-Hubshman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033554 MONDO:0017855 False immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033555 MONDO:0017855 False immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia T-B- severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033556 MONDO:0013049 False muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 DPM3-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033557 MONDO:0015541 False hemophagocytic lymphohistiocytosis, familial, 6 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033556 MONDO:0013049 False muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 DPM3-congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0033557 MONDO:0015541 False hemophagocytic lymphohistiocytosis, familial, 6 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033558 MONDO:0003847 False autoinflammation, immune dysregulation, and eosinophilia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033559 MONDO:0003847 False intellectual developmental disorder with seizures and language delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033561 MONDO:0003847 False deeah syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033562 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033572 MONDO:0003847 False intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033613 MONDO:0016215 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033613 MONDO:0016215 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0033613 MONDO:0100500 False neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033618 MONDO:0003847 False Vissers-Bodmer syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033619 MONDO:0003847 False myopathy, epilepsy, and progressive cerebral atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31559,17 +31581,17 @@ MONDO:0033926 MONDO:0005071 False prepubertal anorexia nervosa nervous system di MONDO:0033926 MONDO:0005351 False prepubertal anorexia nervosa anorexia nervosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033938 MONDO:0002254 False acute radiation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033938 MONDO:0020683 False acute radiation syndrome acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0002254 False monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0033954 MONDO:0005046 False monoclonal mast cell activation syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0002254 False monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0033954 MONDO:0005046 False monoclonal mast cell activation syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033968 MONDO:0006025 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0002320 False congenital axonal neuropathy with encephalopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0004183 False congenital axonal neuropathy with encephalopathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034054 MONDO:0015974 False severe combined immunodeficiency due to CD70 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034054 MONDO:0015974 False severe combined immunodeficiency due to CD70 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034092 MONDO:0006025 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034092 MONDO:0044970 False optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034099 MONDO:0015653 False SYNGAP1-related developmental and epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034099 MONDO:0015653 False SYNGAP1-related developmental and epileptic encephalopathy monogenic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034103 MONDO:0021669 False infection-related hemolytic uremic syndrome post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034106 MONDO:0002320 False developmental and epileptic encephalopathy, 73 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034106 MONDO:0002320 False developmental and epileptic encephalopathy, 73 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0034110 MONDO:0005240 False atypical Fanconi syndrome-neonatal hyperinsulinism syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034121 MONDO:0006025 False NAD(P)HX dehydratase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034145 MONDO:0002254 False oculocerebrodental syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31578,13 +31600,13 @@ MONDO:0034150 MONDO:0006769 False idiopathic gastroparesis gastroparesis UNSUPPO MONDO:0034150 MONDO:0700007 False idiopathic gastroparesis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034186 MONDO:0006025 False autosomal recessive extra-oral halitosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034189 MONDO:0004789 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034189 MONDO:0016264 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034189 MONDO:0016264 False primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome autoimmune hepatitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034204 MONDO:0002254 False syndromic congenital sodium diarrhea syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034204 MONDO:0015170 False syndromic congenital sodium diarrhea congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034204 MONDO:0015170 False syndromic congenital sodium diarrhea congenital sodium diarrhea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034212 MONDO:0800390 False methotrexate toxicity chemotherapy-induced toxicity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034216 MONDO:0001328 False resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha thyroid hormone resistance syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034556 MONDO:0019624 False vibratory angioedema acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034676 MONDO:0019716 False overgrowth syndrome with 2q37 translocation overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034556 MONDO:0019624 False vibratory angioedema acquired angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034676 MONDO:0019716 False overgrowth syndrome with 2q37 translocation overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034820 MONDO:0002254 False cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034820 MONDO:0003847 False cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034823 MONDO:0002254 False oral-facial-digital syndrome with short stature and brachymesophalangy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31616,11 +31638,11 @@ MONDO:0035136 MONDO:0021089 False isolated melanotic schwannoma peripheral nervo MONDO:0035136 MONDO:0100342 False isolated melanotic schwannoma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035149 MONDO:0016028 False secondary erythromelalgia erythromelalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035159 MONDO:0005070 False dermoid or epidermoid cyst of the central nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035161 MONDO:0015547 False progressive dementia with neuroserpin inclusion bodies hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035161 MONDO:0015547 False progressive dementia with neuroserpin inclusion bodies hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035312 MONDO:0024477 False fibrohistiocytic inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035313 MONDO:0024477 False lymphoplasmacytic inflammatory pseudotumor of the liver liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035320 MONDO:0003847 False early-onset familial hypoaldosteronism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035337 MONDO:0007473 False Duane retraction syndrome with congenital deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035337 MONDO:0007473 False Duane retraction syndrome with congenital deafness Duane retraction syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035344 MONDO:0005560 False acute bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035344 MONDO:0020683 False acute bilirubin encephalopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035345 MONDO:0005560 False chronic bilirubin encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31637,7 +31659,7 @@ MONDO:0035444 MONDO:0020683 False acute mast cell leukemia acute disease UNSUPPO MONDO:0035447 MONDO:0024477 False liver adenomatosis liver and intrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035449 MONDO:0005560 False atelencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035449 MONDO:0021147 False atelencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035450 MONDO:0005560 False aprosencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035450 MONDO:0005560 False aprosencephaly brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035450 MONDO:0021147 False aprosencephaly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035452 MONDO:0005381 False mueller-weiss syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035454 MONDO:0002254 False B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31657,9 +31679,9 @@ MONDO:0035584 MONDO:0005328 False punctate inner choroidopathy eye disorder UNSU MONDO:0035586 MONDO:0002254 False Cramp-fasciculation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035592 MONDO:0006574 False congenital infiltrating lipomatosis of the face lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035614 MONDO:0005429 False sporadic fatal insomnia prion disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035614 MONDO:0024237 False sporadic fatal insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035639 MONDO:0017893 False mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035642 MONDO:0017893 False mixed phenotype acute leukemia with t(v;11q23.3) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035614 MONDO:0024237 False sporadic fatal insomnia inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035639 MONDO:0017893 False mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035642 MONDO:0017893 False mixed phenotype acute leukemia with t(v;11q23.3) inherited acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035651 MONDO:0002254 False choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035651 MONDO:0003847 False choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035660 MONDO:0003847 False GNAO1-related developmental delay-seizures-movement disorder spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31673,17 +31695,17 @@ MONDO:0035707 MONDO:0002254 False blepharophimosis-intellectual disability syndr MONDO:0035713 MONDO:0100040 False FOXG1 syndrome due to intragenic alteration FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035735 MONDO:0019139 False acquired hemophilia A acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035736 MONDO:0019139 False acquired hemophilia B acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035737 MONDO:0020586 False acquired factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035737 MONDO:0020599 False acquired factor V deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035737 MONDO:0020586 False acquired factor V deficiency factor V deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035737 MONDO:0020599 False acquired factor V deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035738 MONDO:0002244 False acquired factor VII deficiency factor VII deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035738 MONDO:0020599 False acquired factor VII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035738 MONDO:0020599 False acquired factor VII deficiency acquired coagulation factor deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035740 MONDO:0019139 False acquired factor XI deficiency acquired hemophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035740 MONDO:0020587 False acquired factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035740 MONDO:0020587 False acquired factor XI deficiency factor XI deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035742 MONDO:0002242 False factor V short isoforms-related bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035743 MONDO:0002242 False factor V amsterdam bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035759 MONDO:0002242 False factor V atlanta bleeding disorder coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035763 MONDO:0005240 False idiopathic non-lupus full-house nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035764 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035764 MONDO:0019067 False idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance idiopathic steroid-sensitive nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035774 MONDO:0100500 False NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035775 MONDO:0002254 False CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035775 MONDO:0003847 False CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31694,7 +31716,7 @@ MONDO:0035821 MONDO:0005345 False isolated female hypospadias hypospadias UNSUPP MONDO:0035823 MONDO:0002254 False KLHL7-related Bohring-Opitz-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035823 MONDO:0003847 False KLHL7-related Bohring-Opitz-like syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035824 MONDO:0002254 False KLHL7-related cold-induced sweating-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035826 MONDO:0010683 False symptomatic form of X-linked centronuclear myopathy in female carriers X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035826 MONDO:0010683 False symptomatic form of X-linked centronuclear myopathy in female carriers X-linked myotubular myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035875 MONDO:0029000 False ivermectin toxicity poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035876 MONDO:0029000 False belinostat toxicity or dose selection poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035879 MONDO:0005093 False granuloma faciale skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31709,8 +31731,8 @@ MONDO:0036193 MONDO:0021095 False parkinsonism with polyneuropathy parkinsonian MONDO:0036212 MONDO:0002254 False spastic paraparesis-cataracts-speech delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036212 MONDO:0003847 False spastic paraparesis-cataracts-speech delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036591 MONDO:0002816 False adrenal cortex neoplasm adrenal cortex disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036696 MONDO:0021223 False spleen neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0036870 MONDO:0005833 False lymphatic vessel neoplasm lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036696 MONDO:0021223 False spleen neoplasm digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0036870 MONDO:0005833 False lymphatic vessel neoplasm lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0036990 MONDO:0024988 False benign Leydig cell tumor sex cord-stromal benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037251 MONDO:0002332 False congestive splenomegaly splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037398 MONDO:0004652 False pneumonia caused by pseudomonas aeruginosa infection bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31719,18 +31741,18 @@ MONDO:0037738 MONDO:0003164 False cauda equina cancer cauda equina neoplasm UNSU MONDO:0037738 MONDO:0021089 False cauda equina cancer peripheral nervous system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037739 MONDO:0003164 False benign neoplasm of cauda equina cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037739 MONDO:0056804 False benign neoplasm of cauda equina benign neoplasm of peripheral nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037742 MONDO:0021148 False endometrioid stromal and related neoplasms female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037742 MONDO:0021148 False endometrioid stromal and related neoplasms female reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037744 MONDO:0021580 False neoplasm of retromolar area neoplasm of jaw UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037747 MONDO:0021178 False spinal injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037748 MONDO:0005066 False hyperlipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037748 MONDO:0005066 False hyperlipoproteinemia metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037792 MONDO:0005066 False carbohydrate metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037807 MONDO:0037792 False glycerol metabolism disease carbohydrate metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037821 MONDO:0005066 False porphyrin metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037829 MONDO:0005066 False purine metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037847 MONDO:0000812 False vertebral joint disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037847 MONDO:0006816 False vertebral joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037858 MONDO:0000688 False inherited fatty acid metabolism disorder inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037858 MONDO:0002525 False inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037858 MONDO:0000688 False inherited fatty acid metabolism disorder inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0037858 MONDO:0002525 False inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0019189 False inherited fatty acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037870 MONDO:0037871 False valine metabolism disease amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037871 MONDO:0045022 False amino acid metabolism disease disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31739,9 +31761,9 @@ MONDO:0037937 MONDO:0005066 False pyrimidine metabolism disease metabolic diseas MONDO:0037939 MONDO:0037821 False porphyria porphyrin metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037940 MONDO:0002409 False inherited auditory system disease auditory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037940 MONDO:0003847 False inherited auditory system disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040500 MONDO:0002320 False glycosylphosphatidylinositol biosynthesis defect 16 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040500 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 16 inherited lipid metabolism disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040500 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 16 congenital disorder of glycosylation UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040500 MONDO:0002320 False glycosylphosphatidylinositol biosynthesis defect 16 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0040500 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 16 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0040500 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 16 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0040500 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 16 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040566 MONDO:0019241 False inherited glutathione metabolism disease inborn disorder of the gamma-glutamyl cycle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040566 MONDO:0100473 False inherited glutathione metabolism disease disorder of peptide and amine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31751,7 +31773,7 @@ MONDO:0040654 MONDO:0000426 False autosomal dominant oculocutaneous albinism aut MONDO:0040654 MONDO:0018910 False autosomal dominant oculocutaneous albinism oculocutaneous albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040671 MONDO:0005775 False class V glucose-6-phosphate dehydrogenase deficiency G6PD deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040674 MONDO:0000947 False orgasm disorder psychosexual disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040676 MONDO:0002095 False great vessel cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040676 MONDO:0002095 False great vessel cancer vascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040698 MONDO:0002471 False subacute bursitis bursitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040698 MONDO:0020683 False subacute bursitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040699 MONDO:0001718 False necrotizing scleritis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31762,8 +31784,8 @@ MONDO:0040732 MONDO:0005141 False Pseudomonas aeruginosa infectious disease Pseu MONDO:0040753 MONDO:0018076 False latent tuberculosis infection tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040871 MONDO:0040870 False psychogenic polydipsia primary polydipsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040922 MONDO:0005822 False latent early syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040923 MONDO:0004497 False late latent syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0040923 MONDO:0005822 False late latent syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040923 MONDO:0004497 False late latent syphilis tertiary syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0040923 MONDO:0005822 False late latent syphilis latent syphilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040925 MONDO:0006019 False latent yaws yaws UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0040998 MONDO:0005901 False Pasteurella multocida infectious disease pasteurellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041052 MONDO:0021677 False postherpetic neuralgia post-infectious neuralgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31810,7 +31832,7 @@ MONDO:0041903 MONDO:0004277 False gonococcal infection of joint gonorrhea UNSUPP MONDO:0041903 MONDO:0004471 False gonococcal infection of joint bacterial arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041959 MONDO:0002887 False fibrosis of bile duct bile duct disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0041996 MONDO:0023305 False thallium poisoning heavy metal poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042233 MONDO:0002026 False disseminated candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042233 MONDO:0002026 False disseminated candidiasis candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042233 MONDO:0045033 False disseminated candidiasis opportunistic systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042370 MONDO:0007023 False Yersinia enterocolitica infectious disease Yersinia infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042433 MONDO:0000565 False mycotic endocarditis infective endocarditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31822,10 +31844,10 @@ MONDO:0042452 MONDO:0006019 False tertiary lesion of yaws yaws UNSUPPORTED-MISSI MONDO:0042458 MONDO:0019444 False Trichinella spiralis infectious disease trichinellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042484 MONDO:0000256 False disseminated sporotrichosis systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042484 MONDO:0005968 False disseminated sporotrichosis sporotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042485 MONDO:0005550 False infective arthritis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042485 MONDO:0005578 False infective arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042485 MONDO:0005550 False infective arthritis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042485 MONDO:0005578 False infective arthritis arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042488 MONDO:0004664 False Cestode infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042490 MONDO:0008742 False neutropenia, severe congenital, 1, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042490 MONDO:0008742 False neutropenia, severe congenital, 1, autosomal dominant autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0042495 MONDO:0002277 False arteriosclerotic retinopathy arteriosclerosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042495 MONDO:0002311 False arteriosclerotic retinopathy retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042496 MONDO:0042497 False ergotism mycotoxicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31849,7 +31871,7 @@ MONDO:0042961 MONDO:0016063 False sacral hemangiomas multiple congenital abnorma MONDO:0042962 MONDO:0002146 False Slti-Salem syndrome hypogonadism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042962 MONDO:0002254 False Slti-Salem syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042962 MONDO:0004907 False Slti-Salem syndrome alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042963 MONDO:0002332 False wandering spleen splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042963 MONDO:0002332 False wandering spleen splenic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042964 MONDO:0007182 False Machado-Joseph disease type 4 Machado-Joseph disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042966 MONDO:0003767 False inherited mitral valve disease mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042966 MONDO:0003847 False inherited mitral valve disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31864,13 +31886,13 @@ MONDO:0042972 MONDO:0005373 False meningococcemia meningococcal infection UNSUPP MONDO:0042974 MONDO:0005940 False parainfluenza virus type 3 infectious disease respirovirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042974 MONDO:0100197 False parainfluenza virus type 3 infectious disease parainfluenza infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042975 MONDO:0007037 False pseudoachondroplastic dysplasia 2 Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042976 MONDO:0024298 False vitamin B deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042976 MONDO:0024298 False vitamin B deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042977 MONDO:0011114 False trichoepithelioma, multiple familial, 1 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042979 MONDO:0008223 False hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042980 MONDO:0007739 False Westphal disease Huntington disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0042981 MONDO:0021147 False aortic valve stenosis disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042982 MONDO:0021094 False GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0042983 MONDO:0005071 False neurocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042982 MONDO:0021094 False GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0042983 MONDO:0005071 False neurocutaneous syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043003 MONDO:0007035 False familial acanthosis nigricans acanthosis nigricans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043003 MONDO:0100118 False familial acanthosis nigricans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043004 MONDO:0005825 False Weil's disease leptospirosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31897,7 +31919,7 @@ MONDO:0043096 MONDO:0022357 False holoacardius amorphus congenital acardia UNSUP MONDO:0043099 MONDO:0006936 False Hordnes Engebretsen Knudtson syndrome pulmonary valve stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043099 MONDO:0015469 False Hordnes Engebretsen Knudtson syndrome craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043101 MONDO:0002150 False hypothalamic dysfunction hypothalamic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043103 MONDO:0018612 False hypothyroidism due to iodide transport defect congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043103 MONDO:0018612 False hypothyroidism due to iodide transport defect congenital hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0002254 False ichthyosis linearis circumflexa syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0006025 False ichthyosis linearis circumflexa autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043106 MONDO:0015947 False ichthyosis linearis circumflexa inherited ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31953,139 +31975,139 @@ MONDO:0043206 MONDO:0006566 False trichostasis spinulosa keratosis UNSUPPORTED-M MONDO:0043207 MONDO:0001556 False urethral obstruction sequence urethral obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043207 MONDO:0018559 False urethral obstruction sequence fetal lower urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043209 MONDO:0004736 False albinism inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043218 MONDO:0005071 False neurovascular disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043218 MONDO:0005385 False neurovascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043219 MONDO:0005475 False migraine with brainstem aura migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043224 MONDO:0002679 False multi-infarct dementia cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043224 MONDO:0004648 False multi-infarct dementia vascular dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043218 MONDO:0005071 False neurovascular disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043218 MONDO:0005385 False neurovascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043219 MONDO:0005475 False migraine with brainstem aura migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043224 MONDO:0002679 False multi-infarct dementia cerebral infarction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043224 MONDO:0004648 False multi-infarct dementia vascular dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0002657 False postpartum amenorrhea-galactorrhea syndrome breast disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0009256 False postpartum amenorrhea-galactorrhea syndrome galactorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0014250 False postpartum amenorrhea-galactorrhea syndrome familial hyperprolactinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0024575 False postpartum amenorrhea-galactorrhea syndrome pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043226 MONDO:0044013 False postpartum amenorrhea-galactorrhea syndrome puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043230 MONDO:0029000 False ciguatera fish poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043233 MONDO:0002406 False exfoliative dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043233 MONDO:0002406 False exfoliative dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043237 MONDO:0001165 False glossodynia tongue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043237 MONDO:0700057 False glossodynia neurological pain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043240 MONDO:0005578 False hemophilic arthropathy arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043243 MONDO:0021074 False leukoplakia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043247 MONDO:0002254 False Mallory-Weiss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0006499 False odontoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0006858 False odontoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043251 MONDO:0021223 False odontoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043240 MONDO:0005578 False hemophilic arthropathy arthritic joint disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043243 MONDO:0021074 False leukoplakia precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043247 MONDO:0002254 False Mallory-Weiss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0006499 False odontoma hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0006858 False odontoma mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043251 MONDO:0021223 False odontoma digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043254 MONDO:0005492 False papular urticaria urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043254 MONDO:0006617 False papular urticaria vesiculobullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043257 MONDO:0019324 False pemphigus and fogo selvagem pemphigus foliaceus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043257 MONDO:0019324 False pemphigus and fogo selvagem pemphigus foliaceus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043264 MONDO:0005027 False post-traumatic epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043267 MONDO:0008383 False rheumatoid vasculitis rheumatoid arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043267 MONDO:0030703 False rheumatoid vasculitis autoimmune vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043275 MONDO:0021670 False TORCH syndrome post-infectious syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043277 MONDO:0700013 False mosaic trisomy 6 chromosome 6 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043277 MONDO:0700065 False mosaic trisomy 6 trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043280 MONDO:0005071 False Wallerian degeneration nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043280 MONDO:0005071 False Wallerian degeneration nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043283 MONDO:0005960 False silicosiderosis silicosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043287 MONDO:0002254 False superior vena cava syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043287 MONDO:0005385 False superior vena cava syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043287 MONDO:0002254 False superior vena cava syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043287 MONDO:0005385 False superior vena cava syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043291 MONDO:0004868 False Rokitansky-Aschoff sinuses of the gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043291 MONDO:0005281 False Rokitansky-Aschoff sinuses of the gallbladder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043294 MONDO:0019562 False linear scleroderma localized scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043294 MONDO:0019562 False linear scleroderma localized scleroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043297 MONDO:0007014 False vibrio vulnificus infectious disease vibrio infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043300 MONDO:0002102 False actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043303 MONDO:0021205 False hyperacusis disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043303 MONDO:0024422 False hyperacusis auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043310 MONDO:0001941 False amaurosis fugax blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043300 MONDO:0002102 False actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043303 MONDO:0021205 False hyperacusis disorder of ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043303 MONDO:0024422 False hyperacusis auditory perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043310 MONDO:0001941 False amaurosis fugax blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0020590 False aquarium granuloma mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0024295 False aquarium granuloma skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043320 MONDO:0002254 False piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043320 MONDO:0003615 False piriformis syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043320 MONDO:0002254 False piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043320 MONDO:0003615 False piriformis syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0024333 False piriformis syndrome sciatica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043327 MONDO:0002602 False cerebrospinal fluid leak central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043330 MONDO:0006757 False Mirizzi syndrome extrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043339 MONDO:0029000 False lathyrism poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043343 MONDO:0003409 False Chilaiditi syndrome colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043346 MONDO:0005062 False progressive transformation of germinal centers lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043349 MONDO:0024461 False intravascular papillary endothelial hyperplasia angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043346 MONDO:0005062 False progressive transformation of germinal centers lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043349 MONDO:0024461 False intravascular papillary endothelial hyperplasia angiomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043352 MONDO:0003150 False fournier gangrene male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043352 MONDO:0005113 False fournier gangrene bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043355 MONDO:0004966 False collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043358 MONDO:0002254 False engraftment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043355 MONDO:0004966 False collagenous gastritis gastritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043358 MONDO:0002254 False engraftment syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043358 MONDO:0700222 False engraftment syndrome disease related to hematopoietic stem cell transplant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043361 MONDO:0005294 False May-Thurner syndrome peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043364 MONDO:0004805 False eosinophil peroxidase deficiency leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043364 MONDO:0006025 False eosinophil peroxidase deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043370 MONDO:0000004 False secondary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043370 MONDO:0000004 False secondary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043373 MONDO:0020677 False sudden sensorineural hearing loss sudden hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043373 MONDO:0020678 False sudden sensorineural hearing loss sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043377 MONDO:0005306 False juvenile spondyloarthropathy ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043424 MONDO:0004335 False digestive system infectious disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043424 MONDO:0005550 False digestive system infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043377 MONDO:0005306 False juvenile spondyloarthropathy ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043424 MONDO:0004335 False digestive system infectious disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043424 MONDO:0005550 False digestive system infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043452 MONDO:0700015 False chromosome 8, trisomy chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043452 MONDO:0700065 False chromosome 8, trisomy trisomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043455 MONDO:0001566 False humoral hypercalcemia of malignancy hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043455 MONDO:0021073 False humoral hypercalcemia of malignancy paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043455 MONDO:0001566 False humoral hypercalcemia of malignancy hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043455 MONDO:0021073 False humoral hypercalcemia of malignancy paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043458 MONDO:0021178 False radiation injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043459 MONDO:0700096 False radiation-induced disorder human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043465 MONDO:0004298 False achlorhydria stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043468 MONDO:0005348 False acne keloid keloid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043468 MONDO:0006552 False acne keloid folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043472 MONDO:0005495 False ectopic ACTH secretion syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043472 MONDO:0021058 False ectopic ACTH secretion syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043475 MONDO:0002254 False Adams-Stokes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043465 MONDO:0004298 False achlorhydria stomach disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043468 MONDO:0005348 False acne keloid keloid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043468 MONDO:0006552 False acne keloid folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043472 MONDO:0005495 False ectopic ACTH secretion syndrome adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043472 MONDO:0021058 False ectopic ACTH secretion syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043475 MONDO:0002254 False Adams-Stokes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043475 MONDO:0008848 False Adams-Stokes syndrome atrioventricular dissociation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043479 MONDO:0100329 False adenoviridae infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043494 MONDO:0000473 False arteritis arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043494 MONDO:0018882 False arteritis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043494 MONDO:0000473 False arteritis arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043494 MONDO:0018882 False arteritis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043510 MONDO:0005560 False brain injury brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043510 MONDO:0044745 False brain injury nervous system injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043512 MONDO:0005560 False traumatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043519 MONDO:0021178 False burn injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043512 MONDO:0005560 False traumatic encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043519 MONDO:0021178 False burn injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043523 MONDO:0029000 False cadmium poisoning poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043529 MONDO:0005267 False carcinoid heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043537 MONDO:0005560 False cluster headache syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043537 MONDO:0015530 False cluster headache syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043541 MONDO:0003799 False viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043537 MONDO:0005560 False cluster headache syndrome brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043537 MONDO:0015530 False cluster headache syndrome trigeminal autonomic cephalalgia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043541 MONDO:0003799 False viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043541 MONDO:0020950 False viral conjunctivitis viral eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043543 MONDO:0700096 False iatrogenic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043544 MONDO:0005550 False nosocomial infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043544 MONDO:0005550 False nosocomial infection infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043544 MONDO:0043543 False nosocomial infection iatrogenic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043549 MONDO:0005240 False crush syndrome kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043555 MONDO:0001517 False infantile diarrhea dysentery UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043576 MONDO:0043494 False endarteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043579 MONDO:0002269 False enteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043576 MONDO:0043494 False endarteritis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043579 MONDO:0002269 False enteritis gastroenteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043579 MONDO:0024635 False enteritis small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043589 MONDO:0005327 False femoral neck fracture hip fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043653 MONDO:0004609 False herpes labialis herpes simplex infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043653 MONDO:0004748 False herpes labialis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043653 MONDO:0004748 False herpes labialis lip disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043653 MONDO:0100330 False herpes labialis disease arising from reactivation of latent virus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043678 MONDO:0019040 False chromosome inversion disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043683 MONDO:0002254 False Leriche syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043683 MONDO:0005561 False Leriche syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043693 MONDO:0005154 False alcoholic liver diseases liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043683 MONDO:0002254 False Leriche syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043683 MONDO:0005561 False Leriche syndrome aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043693 MONDO:0005154 False alcoholic liver diseases liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043693 MONDO:0021699 False alcoholic liver diseases alcohol-induced disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043723 MONDO:0005322 False Monteggia's fracture ulna fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043726 MONDO:0002254 False multiple organ dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043726 MONDO:0002254 False multiple organ dysfunction syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043731 MONDO:0000837 False lytic metastatic bone lesion bone resorption disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043735 MONDO:0005380 False osteoradionecrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043735 MONDO:0043459 False osteoradionecrosis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043759 MONDO:0000755 False abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043762 MONDO:0000755 False tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043762 MONDO:0002156 False tubal pregnancy fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043765 MONDO:0005365 False presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043768 MONDO:0002049 False thrombocytopenic purpura thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043735 MONDO:0005380 False osteoradionecrosis osteonecrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043735 MONDO:0043459 False osteoradionecrosis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043759 MONDO:0000755 False abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043762 MONDO:0000755 False tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043762 MONDO:0002156 False tubal pregnancy fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043765 MONDO:0005365 False presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043768 MONDO:0002049 False thrombocytopenic purpura thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002610 False thrombocytopenic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043768 MONDO:0005046 False thrombocytopenic purpura immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043768 MONDO:0019737 False thrombocytopenic purpura thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043771 MONDO:0002406 False radiodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043771 MONDO:0043459 False radiodermatitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043768 MONDO:0005046 False thrombocytopenic purpura immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043768 MONDO:0019737 False thrombocytopenic purpura thrombotic microangiopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043771 MONDO:0002406 False radiodermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043771 MONDO:0043459 False radiodermatitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0005728 False respiratory paralysis diaphragm disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0006496 False respiratory paralysis palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043775 MONDO:0021113 False respiratory paralysis respiratory failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043777 MONDO:0006604 False rhinophyma rosacea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043777 MONDO:0006604 False rhinophyma rosacea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043777 MONDO:0006607 False rhinophyma sebaceous gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043783 MONDO:0005093 False sclerema neonatorum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043786 MONDO:0021166 False serositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043789 MONDO:0002459 False serum sickness type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043789 MONDO:0007004 False serum sickness type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043783 MONDO:0005093 False sclerema neonatorum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043786 MONDO:0021166 False serositis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043789 MONDO:0002459 False serum sickness type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043789 MONDO:0007004 False serum sickness type III hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0000812 False spinal cord injury vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0002545 False spinal cord injury spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043797 MONDO:0037747 False spinal cord injury spinal injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32093,61 +32115,61 @@ MONDO:0043797 MONDO:0044745 False spinal cord injury nervous system injury UNSUP MONDO:0043836 MONDO:0000812 False tuberculosis, spinal vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043836 MONDO:0005962 False tuberculosis, spinal skeletal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043839 MONDO:0700096 False ulcer disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043862 MONDO:0004382 False voice disorders laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043875 MONDO:0005066 False tumor lysis syndrome metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043875 MONDO:0021058 False tumor lysis syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043862 MONDO:0004382 False voice disorders laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043875 MONDO:0005066 False tumor lysis syndrome metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043875 MONDO:0021058 False tumor lysis syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043878 MONDO:0001084 False hereditary optic atrophy primary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043878 MONDO:0024237 False hereditary optic atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043885 MONDO:0005328 False eye infectious disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043885 MONDO:0005550 False eye infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043892 MONDO:0005550 False prosthesis-related infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043878 MONDO:0024237 False hereditary optic atrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043885 MONDO:0005328 False eye infectious disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043885 MONDO:0005550 False eye infectious disorder infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043892 MONDO:0005550 False prosthesis-related infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043895 MONDO:0021178 False ankle injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043904 MONDO:0005446 False leishmaniasis, diffuse cutaneous cutaneous leishmaniasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043905 MONDO:0005275 False pneumonitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043905 MONDO:0021166 False pneumonitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043905 MONDO:0005275 False pneumonitis lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043905 MONDO:0021166 False pneumonitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0015925 False radiation pneumonitis interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0043459 False radiation pneumonitis radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043919 MONDO:0043905 False radiation pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043923 MONDO:0006572 False lichen planus, oral lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043923 MONDO:0006858 False lichen planus, oral mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043923 MONDO:0006572 False lichen planus, oral lichen planus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043923 MONDO:0006858 False lichen planus, oral mouth disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043953 MONDO:0021678 False burkholderia infectious disease gram-negative bacterial infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043959 MONDO:0005833 False pseudolymphoma lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043959 MONDO:0005833 False pseudolymphoma lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043969 MONDO:0003441 False nocturnal paroxysmal dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043969 MONDO:0100081 False nocturnal paroxysmal dystonia sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043975 MONDO:0001292 False autonomic dysreflexia autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043982 MONDO:0007006 False cubital tunnel syndrome ulnar neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043985 MONDO:0000568 False central nervous system lupus autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043985 MONDO:0007915 False central nervous system lupus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043985 MONDO:0007915 False central nervous system lupus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043988 MONDO:0005609 False zoster sine herpete herpes zoster UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043994 MONDO:0001930 False acute cholecystitis acute cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043994 MONDO:0002155 False acute cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044001 MONDO:0005365 False hearing loss, mixed conductive-sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043994 MONDO:0001930 False acute cholecystitis acute cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043994 MONDO:0002155 False acute cholecystitis cholecystitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044001 MONDO:0005365 False hearing loss, mixed conductive-sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044013 MONDO:0700003 False puerperal disorder obstetric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044014 MONDO:0005623 False postpartum thyroiditis autoimmune thyroid disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044014 MONDO:0044013 False postpartum thyroiditis puerperal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044033 MONDO:0002254 False posterior leukoencephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044033 MONDO:0006796 False posterior leukoencephalopathy syndrome hypertensive encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044033 MONDO:0002254 False posterior leukoencephalopathy syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044033 MONDO:0006796 False posterior leukoencephalopathy syndrome hypertensive encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044037 MONDO:0005294 False livedo reticularis peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044037 MONDO:0019293 False livedo reticularis skin vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044067 MONDO:0002026 False candidiasis, invasive candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044067 MONDO:0002026 False candidiasis, invasive candidiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044070 MONDO:0044067 False candidemia candidiasis, invasive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044079 MONDO:0002254 False cardio-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044079 MONDO:0005252 False cardio-renal syndrome heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044079 MONDO:0002254 False cardio-renal syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044079 MONDO:0005252 False cardio-renal syndrome heart failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044083 MONDO:0002041 False alternariosis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044092 MONDO:0005020 False collagenous sprue intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044092 MONDO:0005066 False collagenous sprue metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044098 MONDO:0000755 False ovarian ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044098 MONDO:0005558 False ovarian ectopic pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044101 MONDO:0000755 False pregnancy, cornual ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044101 MONDO:0002654 False pregnancy, cornual uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044113 MONDO:0005282 False bullous systemic lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044113 MONDO:0007915 False bullous systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044137 MONDO:0005328 False vitreous body disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044138 MONDO:0006806 False hyalitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044138 MONDO:0044137 False hyalitis vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044141 MONDO:0005383 False panic disorder without agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044144 MONDO:0003709 False panic disorder with agoraphobia agoraphobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044144 MONDO:0005383 False panic disorder with agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044092 MONDO:0005020 False collagenous sprue intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044092 MONDO:0005066 False collagenous sprue metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044098 MONDO:0000755 False ovarian ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044098 MONDO:0005558 False ovarian ectopic pregnancy ovarian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044101 MONDO:0000755 False pregnancy, cornual ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044101 MONDO:0002654 False pregnancy, cornual uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044113 MONDO:0005282 False bullous systemic lupus erythematosus cutaneous lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044113 MONDO:0007915 False bullous systemic lupus erythematosus systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044137 MONDO:0005328 False vitreous body disorder eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044138 MONDO:0006806 False hyalitis intermediate uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044138 MONDO:0044137 False hyalitis vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044141 MONDO:0005383 False panic disorder without agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044144 MONDO:0003709 False panic disorder with agoraphobia agoraphobia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044144 MONDO:0005383 False panic disorder with agoraphobia panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044203 MONDO:0003847 False foveal hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044209 MONDO:0003832 False disorder of lectin complement activation pathway complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044210 MONDO:0013517 False thalassemia minor beta-thalassemia HBB/LCRB UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32155,11 +32177,11 @@ MONDO:0044211 MONDO:0700007 False idiopathic urticaria idiopathic disease UNSUPP MONDO:0044212 MONDO:0044211 False chronic idiopathic urticaria idiopathic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044213 MONDO:0020683 False acute idiopathic urticaria acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044213 MONDO:0044211 False acute idiopathic urticaria idiopathic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044299 MONDO:0002320 False myasthenic syndrome, congenital, 22 congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044299 MONDO:0002320 False myasthenic syndrome, congenital, 22 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044301 MONDO:0020573 False aortic aneurysm, familial thoracic 11, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044303 MONDO:0003847 False congenital heart defects and ectodermal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0006025 False hyperphenylalaninemia due to DNAJC12 deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044304 MONDO:0019189 False hyperphenylalaninemia due to DNAJC12 deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044304 MONDO:0019189 False hyperphenylalaninemia due to DNAJC12 deficiency inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044304 MONDO:0037871 False hyperphenylalaninemia due to DNAJC12 deficiency amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044306 MONDO:0100500 False neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044312 MONDO:0016761 False immunoskeletal dysplasia with neurodevelopmental abnormalities spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32177,21 +32199,21 @@ MONDO:0044324 MONDO:0000508 False Al Kaissi syndrome syndromic intellectual disa MONDO:0044326 MONDO:0700092 False developmental delay and seizures with or without movement abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044329 MONDO:0800064 False osteogenesis imperfecta, type 18 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044332 MONDO:0005395 False childhood-onset benign chorea with striatal involvement movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044333 MONDO:0010198 False alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044333 MONDO:0010198 False alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044333 MONDO:0021702 False alcohol-induced Wernicke-Korsakoff's syndrome alcohol amnestic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044338 MONDO:0000569 False autoimmune primary ovarian failure autoimmune disorder of endocrine system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044338 MONDO:0005387 False autoimmune primary ovarian failure primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044339 MONDO:0011385 False lumbar disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044342 MONDO:0011385 False thoracic disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044343 MONDO:0011385 False cervical disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044344 MONDO:0015254 False Schistosoma japonicum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044345 MONDO:0015254 False Schistosoma mansoni infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044339 MONDO:0011385 False lumbar disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044342 MONDO:0011385 False thoracic disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044343 MONDO:0011385 False cervical disk degenerative disorder intervertebral disk degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044344 MONDO:0015254 False Schistosoma japonicum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044345 MONDO:0015254 False Schistosoma mansoni infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044346 MONDO:0005738 False echinococcus granulosus infectious disease echinococcosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044347 MONDO:0005570 False erythrocyte disorder hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044348 MONDO:0044347 False hemoglobinopathy erythrocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044349 MONDO:0044348 False acquired hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044350 MONDO:0016365 False hyperparathyroidism, primary, caused by water clear cell hyperplasia familial primary hyperparathyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044351 MONDO:0015254 False Schistosoma intercalatum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044351 MONDO:0015254 False Schistosoma intercalatum infectious disease schistosomiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044355 MONDO:0005554 False isolated sternocostoclavicular hyperostosis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044617 MONDO:0002254 False X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044622 MONDO:0023603 False EMILIN-1-related connective tissue disease hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32201,7 +32223,7 @@ MONDO:0044627 MONDO:0005283 False acute macular neuroretinopathy retinal disorde MONDO:0044627 MONDO:0020683 False acute macular neuroretinopathy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044632 MONDO:0005269 False extracranial carotid artery aneurysm carotid artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044634 MONDO:0015160 False retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044640 MONDO:0018993 False Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044640 MONDO:0018993 False Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0000508 False 9q33.3q34.11 microdeletion syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0002320 False 9q33.3q34.11 microdeletion syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044641 MONDO:0005328 False 9q33.3q34.11 microdeletion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32210,7 +32232,7 @@ MONDO:0044643 MONDO:0002320 False congenital labioscrotal agenesis-cerebellar ma MONDO:0044644 MONDO:0003150 False congenital agenesis of the scrotum male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044644 MONDO:0021147 False congenital agenesis of the scrotum disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044645 MONDO:0003847 False familial monosomy 7 syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044646 MONDO:0002320 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044646 MONDO:0002320 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0044646 MONDO:0100198 False early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044649 MONDO:0005267 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044649 MONDO:0015160 False omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32226,19 +32248,19 @@ MONDO:0044699 MONDO:0002320 False SIN3A-related intellectual disability syndrome MONDO:0044699 MONDO:0003847 False SIN3A-related intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0002320 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044701 MONDO:0005395 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044701 MONDO:0015159 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044701 MONDO:0020022 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044701 MONDO:0015159 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044701 MONDO:0020022 False childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044705 MONDO:0000514 False paranasal sinus squamous cell carcinoma bone squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044710 MONDO:0024623 False lip and oral cavity squamous cell carcinoma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044710 MONDO:0024623 False lip and oral cavity squamous cell carcinoma otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044715 MONDO:0015160 False metopic ridging-ptosis-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044715 MONDO:0015338 False metopic ridging-ptosis-facial dysmorphism syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044715 MONDO:0015338 False metopic ridging-ptosis-facial dysmorphism syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044717 MONDO:0015160 False 4q25 proximal deletion syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044720 MONDO:0018751 False cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044737 MONDO:0015905 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044740 MONDO:0004958 False salivary gland squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044720 MONDO:0018751 False cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044737 MONDO:0015905 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044740 MONDO:0004958 False salivary gland squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0006025 False autosomal recessive epidermolytic ichthyosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044742 MONDO:0007239 False autosomal recessive epidermolytic ichthyosis epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044744 MONDO:0001531 False prekallikrein deficiency blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044742 MONDO:0007239 False autosomal recessive epidermolytic ichthyosis epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044744 MONDO:0001531 False prekallikrein deficiency blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044745 MONDO:0005071 False nervous system injury nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044745 MONDO:0021178 False nervous system injury injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044749 MONDO:0000425 False X-linked congenital stationary night blindness X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32246,45 +32268,45 @@ MONDO:0044749 MONDO:0002320 False X-linked congenital stationary night blindness MONDO:0044749 MONDO:0016293 False X-linked congenital stationary night blindness congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044750 MONDO:0005650 False lassa virus infectious disease Arenaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044751 MONDO:0001673 False chronic diarrheal disease diarrheal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044753 MONDO:0005965 False lumbar spinal stenosis spinal stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044753 MONDO:0005965 False lumbar spinal stenosis spinal stenosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044762 MONDO:0000251 False diarrheal disease secondary to increased bowel motility diarrheal disease secondary to altered bowel motility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0000629 False benign choroid plexus neoplasm cardiovascular organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044764 MONDO:0024296 False benign choroid plexus neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044764 MONDO:0043218 False benign choroid plexus neoplasm neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044765 MONDO:0005377 False steroid-resistant nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044768 MONDO:0021052 False vagus nerve paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044781 MONDO:0044765 False nephrotic syndrome of childhood - steroid sensitive steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044782 MONDO:0003749 False esophageal ulcer esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044782 MONDO:0043839 False esophageal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044785 MONDO:0020663 False desmoplastic melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044791 MONDO:0018536 False combined hepatocellular carcinoma and cholangiocarcinoma adenocarcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044764 MONDO:0024296 False benign choroid plexus neoplasm vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044764 MONDO:0043218 False benign choroid plexus neoplasm neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044765 MONDO:0005377 False steroid-resistant nephrotic syndrome nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044768 MONDO:0021052 False vagus nerve paraganglioma parasympathetic paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044781 MONDO:0044765 False nephrotic syndrome of childhood - steroid sensitive steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044782 MONDO:0003749 False esophageal ulcer esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044782 MONDO:0043839 False esophageal ulcer ulcer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044785 MONDO:0020663 False desmoplastic melanoma malignant spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044791 MONDO:0018536 False combined hepatocellular carcinoma and cholangiocarcinoma adenocarcinoma of gallbladder and extrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044792 MONDO:0100118 False large congenital melanocytic nevus hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044796 MONDO:0020664 False spindle cell nevus spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044807 MONDO:0003441 False inherited dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044807 MONDO:0003847 False inherited dystonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044811 MONDO:0003441 False idiopathic torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044796 MONDO:0020664 False spindle cell nevus spindle cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044807 MONDO:0003441 False inherited dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044807 MONDO:0003847 False inherited dystonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044811 MONDO:0003441 False idiopathic torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044811 MONDO:0700007 False idiopathic torsion dystonia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044816 MONDO:0044807 False familial idiopathic torsion dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044816 MONDO:0044811 False familial idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044817 MONDO:0044811 False acquired idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044816 MONDO:0044807 False familial idiopathic torsion dystonia inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044816 MONDO:0044811 False familial idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044817 MONDO:0044811 False acquired idiopathic torsion dystonia idiopathic torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044843 MONDO:0003441 False torsion dystonia dystonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044870 MONDO:0044843 False acquired torsion dystonia torsion dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044871 MONDO:0000477 False dystonia, focal, task-specific focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044871 MONDO:0044807 False dystonia, focal, task-specific inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044871 MONDO:0044807 False dystonia, focal, task-specific inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0044872 MONDO:0001292 False dysautonomia autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044874 MONDO:0044873 False refractory cytopenia of childhood childhood myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044875 MONDO:0005267 False coronary microvascular disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044875 MONDO:0005385 False coronary microvascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044876 MONDO:0002254 False drug hypersensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044877 MONDO:0022687 False paraneoplastic cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044874 MONDO:0044873 False refractory cytopenia of childhood childhood myelodysplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044875 MONDO:0005267 False coronary microvascular disorder heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044875 MONDO:0005385 False coronary microvascular disorder vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044876 MONDO:0002254 False drug hypersensitivity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044877 MONDO:0022687 False paraneoplastic cerebellar degeneration cerebellar degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044879 MONDO:0044880 False pancreatic mucinous-cystic neoplasm cystic tumor of the pancreas UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044884 MONDO:0007650 False tonsillar lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044884 MONDO:0007650 False tonsillar lymphoma MALT lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044884 MONDO:0018751 False tonsillar lymphoma hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044887 MONDO:0015759 False central nervous system non-hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044903 MONDO:0020076 False myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044921 MONDO:0016537 False atypical lymphoproliferative disorder lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044921 MONDO:0060782 False atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044925 MONDO:0006181 False oral cavity carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044887 MONDO:0015759 False central nervous system non-hodgkin lymphoma B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044903 MONDO:0020076 False myelofibrosis myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044921 MONDO:0016537 False atypical lymphoproliferative disorder lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044921 MONDO:0060782 False atypical lymphoproliferative disorder premalignant hematological system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044925 MONDO:0006181 False oral cavity carcinoma digestive system carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044937 MONDO:0024476 False rectal carcinoma epithelial neoplasm of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044972 MONDO:0004805 False eosinophil disorder leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044981 MONDO:0000605 False pseudoallergy hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32332,18 +32354,18 @@ MONDO:0045046 MONDO:0003240 False inherited thyroid metabolism disease thyroid g MONDO:0045046 MONDO:0019052 False inherited thyroid metabolism disease inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045047 MONDO:0005071 False neurosarcoidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045047 MONDO:0019338 False neurosarcoidosis sarcoidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045048 MONDO:0024664 False toxemia of pregnancy hypertension, pregnancy-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045048 MONDO:0024664 False toxemia of pregnancy hypertension, pregnancy-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045049 MONDO:0005129 False hypermature cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045050 MONDO:0005129 False nuclear cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045051 MONDO:0005129 False cortical cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045050 MONDO:0005129 False nuclear cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045051 MONDO:0005129 False cortical cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045054 MONDO:0045024 False cancer-related condition cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045057 MONDO:0002039 False delirium cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045057 MONDO:0002039 False delirium cognitive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045058 MONDO:0017611 False ACTH-producing pituitary gland neoplasm pituitary tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045059 MONDO:0006176 False cribriform carcinoma of breast cribriform carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045060 MONDO:0045059 False intraductal cribriform breast adenocarcinoma cribriform carcinoma of breast UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045068 MONDO:0006304 False minor salivary gland adenoid cystic carcinoma minor salivary gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045068 MONDO:0006304 False minor salivary gland adenoid cystic carcinoma minor salivary gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0045071 MONDO:0015821 False mycosis fungoides variant mycosis fungoides and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0045072 MONDO:0021058 False ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0045072 MONDO:0021058 False ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0049223 MONDO:0800064 False osteogenesis imperfecta, type 19 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054549 MONDO:0100261 False peroxisome biogenesis disorder 10B peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054550 MONDO:0022800 False avascular necrosis of femoral head, primary, 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32351,7 +32373,7 @@ MONDO:0054573 MONDO:0002254 False Lopes-Maciel-Rodan syndrome syndromic disease MONDO:0054581 MONDO:0800066 False Townes-Brocks syndrome 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0002254 False Stankiewicz-Isidor syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0700092 False Stankiewicz-Isidor syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054593 MONDO:0007988 False microcephaly 18, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054593 MONDO:0007988 False microcephaly 18, primary, autosomal dominant autosomal dominant primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0054636 MONDO:0002254 False Skraban-Deardorff syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054708 MONDO:0022410 False retinitis pigmentosa 80 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054708 MONDO:0100509 False retinitis pigmentosa 80 IFT140-related recessive ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32361,21 +32383,21 @@ MONDO:0054780 MONDO:0017319 False elliptocytosis 3 hereditary elliptocytosis UNS MONDO:0054835 MONDO:0700117 False classic dopamine transporter deficiency syndrome SLC6A3-related dopamine transporter deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054837 MONDO:0015802 False intellectual disability, autosomal dominant 57 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054842 MONDO:0004691 False polycystic kidney disease 6 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054862 MONDO:0003225 False premature ovarian failure 15 bone marrow disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054862 MONDO:0003225 False premature ovarian failure 15 bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0054865 MONDO:0100276 False encephalopathy due to mitochondrial and peroxisomal fission defect disorder of defective peroxisomal and mitochondrial fission UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054866 MONDO:0007263 False sudden arrhythmia death syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054867 MONDO:0009264 False paraomphalocele gastroschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054868 MONDO:0004567 False meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054868 MONDO:0004567 False meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054869 MONDO:0016120 False nondystrophic myotonia myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056797 MONDO:0100500 False neurodevelopmental disorder with midbrain and hindbrain malformations Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056798 MONDO:0024634 False disorder of appendix large intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056799 MONDO:0002081 False synovium disorder musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056802 MONDO:0056799 False synovial bursa disorder synovium disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056803 MONDO:0000226 False sulfur metabolism disease mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056804 MONDO:0001406 False benign neoplasm of peripheral nervous system peripheral nervous system neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056804 MONDO:0001406 False benign neoplasm of peripheral nervous system peripheral nervous system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0056815 MONDO:0018534 False liver adenosquamous carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056817 MONDO:0018515 False rectal adenosquamous carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056818 MONDO:0002529 False skin adenosquamous carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056817 MONDO:0018515 False rectal adenosquamous carcinoma squamous cell carcinoma of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0056818 MONDO:0002529 False skin adenosquamous carcinoma skin squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0056822 MONDO:0003847 False amyotonia congenita hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060456 MONDO:0003847 False cerebral sclerosis, diffuse, scholz type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060457 MONDO:0003847 False autoinflammation with arthritis and dyskeratosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32408,16 +32430,16 @@ MONDO:0060611 MONDO:0003847 False combined immunodeficiency and megaloblastic an MONDO:0060621 MONDO:0100500 False neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060622 MONDO:0100500 False neurodevelopmental disorder with severe motor impairment and absent language Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060624 MONDO:0100500 False neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060627 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 15 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060627 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 15 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0006025 False glycosylphosphatidylinositol biosynthesis defect 15 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060627 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 15 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060627 MONDO:0015327 False glycosylphosphatidylinositol biosynthesis defect 15 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060627 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defect 15 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060627 MONDO:0015327 False glycosylphosphatidylinositol biosynthesis defect 15 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 15 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060629 MONDO:0100500 False neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060640 MONDO:0100500 False neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060641 MONDO:0100500 False neurodevelopmental disorder with or without seizures and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060642 MONDO:0100500 False neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060650 MONDO:0018998 False Leber congenital amaurosis with early-onset deafness Leber congenital amaurosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060650 MONDO:0018998 False Leber congenital amaurosis with early-onset deafness Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0060659 MONDO:0100500 False neurodevelopmental disorder with poor language and loss of hand skills Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060662 MONDO:0003847 False Diamond-Blackfan anemia-like hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060663 MONDO:0000119 False congenital heart defects, multiple types, 5 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32450,8 +32472,8 @@ MONDO:0060732 MONDO:0019713 False tetraamelia syndrome 2 non-syndromic limb redu MONDO:0060733 MONDO:0003847 False humerofemoral hypoplasia with radiotibial ray deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060745 MONDO:0003847 False intellectual developmental disorder with or without epilepsy or cerebellar ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060752 MONDO:0100500 False neurodevelopmental disorder with spasticity and poor growth Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060758 MONDO:0014776 False spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits spinocerebellar ataxia type 42 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060759 MONDO:0002254 False neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060758 MONDO:0014776 False spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits spinocerebellar ataxia type 42 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0060759 MONDO:0002254 False neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0060759 MONDO:0100500 False neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060760 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies and behavioral abnormalities syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060760 MONDO:0003847 False intellectual developmental disorder with dysmorphic facies and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32459,22 +32481,22 @@ MONDO:0060761 MONDO:0100500 False neurodevelopmental disorder with epilepsy and MONDO:0060763 MONDO:0000508 False intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060763 MONDO:0700120 False intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060764 MONDO:0019713 False tetraamelia syndrome 1 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060765 MONDO:0005079 False fibroepithelial polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0002519 False anal polyp anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0021398 False anal polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060766 MONDO:0024292 False anal polyp gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060768 MONDO:0003396 False gingival fibroepithelial polyp epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060768 MONDO:0060765 False gingival fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060774 MONDO:0021394 False vaginal fibroepithelial polyp polyp of vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060774 MONDO:0060765 False vaginal fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060777 MONDO:0000751 False cervical fibroepithelial polyp cervical polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060777 MONDO:0060765 False cervical fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060778 MONDO:0001083 False adult Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060779 MONDO:0001083 False acquired Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060765 MONDO:0005079 False fibroepithelial polyp polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0002519 False anal polyp anus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0021398 False anal polyp polyp of rectum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060766 MONDO:0024292 False anal polyp gastrointestinal polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060768 MONDO:0003396 False gingival fibroepithelial polyp epulis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060768 MONDO:0060765 False gingival fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060774 MONDO:0021394 False vaginal fibroepithelial polyp polyp of vagina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060774 MONDO:0060765 False vaginal fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060777 MONDO:0000751 False cervical fibroepithelial polyp cervical polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060777 MONDO:0060765 False cervical fibroepithelial polyp fibroepithelial polyp UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060778 MONDO:0001083 False adult Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060779 MONDO:0001083 False acquired Fanconi syndrome Fanconi renotubular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060781 MONDO:0060779 False Preeyasombat-Varavithya syndrome acquired Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060782 MONDO:0005570 False premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060782 MONDO:0021074 False premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060783 MONDO:0018479 False classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060782 MONDO:0005570 False premalignant hematological system disease hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060782 MONDO:0021074 False premalignant hematological system disease precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060783 MONDO:0018479 False classic congenital adrenal hyperplasia congenital adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100003 MONDO:0020573 False susceptibility to angioedema induced by ACE inhibitors inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100004 MONDO:0004805 False mast cell activation syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100010 MONDO:0002081 False tendinopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32483,7 +32505,7 @@ MONDO:0100011 MONDO:0100010 False tendinosis tendinopathy UNSUPPORTED-MISSING UN MONDO:0100014 MONDO:0000587 False autoimmune retinopathy autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0002977 False autoimmune retinopathy autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0005283 False autoimmune retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100017 MONDO:0006547 False pityriasis rubra pilaris exanthem UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100017 MONDO:0006547 False pityriasis rubra pilaris exanthem UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100017 MONDO:0019270 False pityriasis rubra pilaris erythrokeratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100025 MONDO:0100022 False epilepsy of infancy with migrating focal seizures neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100042 MONDO:0007263 False cardiac conduction defect cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32491,24 +32513,24 @@ MONDO:0100043 MONDO:0020573 False epidermodysplasia verruciformis, susceptibilit MONDO:0100044 MONDO:0008715 False acrofrontofacionasal dysostosis 1 acrofrontofacionasal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100046 MONDO:0020573 False exfoliation syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100048 MONDO:0020573 False graft-versus-host disease, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100053 MONDO:0000605 False anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100053 MONDO:0000605 False anaphylaxis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0100053 False idiopathic anaphylaxis anaphylaxis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100054 MONDO:0700007 False idiopathic anaphylaxis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100058 MONDO:0019242 False hypervalinemia and hyperleucine-isoleucinemia inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100062 MONDO:0005579 False developmental and epileptic encephalopathy epilepsy, idiopathic generalized UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100062 MONDO:0005579 False developmental and epileptic encephalopathy epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100062 MONDO:0100022 False developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100038 False developmental and epileptic encephalopathy complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100500 False developmental and epileptic encephalopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100064 MONDO:0019219 False tyrosine hydroxylase deficiency inborn disorder of neurotransmitter metabolism and transport UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100075 MONDO:0005315 False jaw fracture bone fracture UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100077 MONDO:0020295 False congenital alveolar dysplasia congenital pulmonary veins anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100081 MONDO:0005071 False sleep disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100081 MONDO:0005071 False sleep disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100083 MONDO:0011071 False hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 hereditary thrombocytopenia and hematologic cancer predisposition syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100086 MONDO:0700096 False perinatal disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100095 MONDO:0024237 False neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100111 MONDO:0003847 False focal segmental glomerulosclerosis and neurodevelopmental syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100115 MONDO:0020683 False acute flaccid myelitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100116 MONDO:0005087 False Middle East respiratory syndrome respiratory system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100116 MONDO:0005087 False Middle East respiratory syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100118 MONDO:0003847 False hereditary skin disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100118 MONDO:0005093 False hereditary skin disorder skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100120 MONDO:0005550 False vector-borne disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32521,15 +32543,15 @@ MONDO:0100137 MONDO:0019303 False telomere syndrome premature aging syndrome UNS MONDO:0100147 MONDO:0000508 False SATB2 associated disorder syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100147 MONDO:0003847 False SATB2 associated disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100151 MONDO:0006025 False nephropathic cystinosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100151 MONDO:0016239 False nephropathic cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100151 MONDO:0016239 False nephropathic cystinosis cystinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100156 MONDO:0006025 False Imerslund-Grasbeck syndrome type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100157 MONDO:0006025 False Imerslund-Grasbeck syndrome type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100159 MONDO:0005149 False pulmonary hypertension, neonatal pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100160 MONDO:0006022 False alcoholic ketoacidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100163 MONDO:0035375 False COVID-19–associated multisystem inflammatory syndrome in children multisystem inflammatory syndrome in children and adults UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100164 MONDO:0017688 False permanent neonatal diabetes mellitus disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100164 MONDO:0017688 False permanent neonatal diabetes mellitus disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100165 MONDO:0006025 False permanent neonatal diabetes mellitus 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100168 MONDO:0007608 False desmoid tumor caused by somatic mutation desmoid tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100168 MONDO:0007608 False desmoid tumor caused by somatic mutation desmoid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100170 MONDO:0020573 False restless legs syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100172 MONDO:0000426 False intellectual disability, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100172 MONDO:0001071 False intellectual disability, autosomal dominant intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32540,16 +32562,16 @@ MONDO:0100184 MONDO:0045014 False GTP cyclohydrolase I deficiency tetrahydrobiop MONDO:0100185 MONDO:0005046 False immune reconstitution inflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100185 MONDO:0021166 False immune reconstitution inflammatory syndrome inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100186 MONDO:0100184 False GTP cyclohydrolase I deficiency with hyperphenylalaninemia GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100192 MONDO:0005154 False liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100193 MONDO:0100192 False chronic liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100192 MONDO:0005154 False liver failure liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100193 MONDO:0100192 False chronic liver failure liver failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0003847 False growth hormone insensitivity syndrome with immune dysregulation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100210 MONDO:0015892 False growth hormone insensitivity syndrome with immune dysregulation growth hormone insensitivity syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100211 MONDO:0005046 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive immune system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100211 MONDO:0005046 False growth hormone insensitivity with immune dysregulation 1, autosomal recessive immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100212 MONDO:0002254 False IFAP syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100214 MONDO:0003847 False Rajab interstitial lung disease with brain calcifications hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100214 MONDO:0015925 False Rajab interstitial lung disease with brain calcifications interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100215 MONDO:0006025 False Rajab interstitial lung disease with brain calcifications 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100224 MONDO:0009637 False mitochondrial complex I deficiency, nuclear type 1 inborn mitochondrial myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100224 MONDO:0009637 False mitochondrial complex I deficiency, nuclear type 1 inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100226 MONDO:0100081 False parasomnia, sleepwalking type sleep disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100232 MONDO:0020573 False psoriatic arthritis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100233 MONDO:0100320 False long COVID-19 post-COVID-19 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32565,56 +32587,56 @@ MONDO:0100240 MONDO:0021181 False inherited thrombophilia inherited blood coagul MONDO:0100241 MONDO:0002049 False inherited thrombocytopenia thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100241 MONDO:0003847 False inherited thrombocytopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100242 MONDO:0015356 False glioma susceptibility hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100244 MONDO:0003664 False paroxysmal nocturnal hemoglobinuria hemolytic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100244 MONDO:0006504 False paroxysmal nocturnal hemoglobinuria acquired metabolic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100244 MONDO:0003664 False paroxysmal nocturnal hemoglobinuria hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100244 MONDO:0006504 False paroxysmal nocturnal hemoglobinuria acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100244 MONDO:0024321 False paroxysmal nocturnal hemoglobinuria disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100246 MONDO:0020573 False migraine with or without aura, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100247 MONDO:0015159 False multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100251 MONDO:0002531 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skin neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100251 MONDO:0002531 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100251 MONDO:0100118 False familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100252 MONDO:0018891 False tumoral calcinosis, hyperphosphatemic, familial, 1 familial tumoral calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100253 MONDO:0019713 False Roberts-SC phocomelia syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100255 MONDO:0019502 False adenosine kinase deficiency autosomal recessive non-syndromic intellectual disability UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100280 MONDO:0019052 False Waldenstrom macroglobulinemia inborn errors of metabolism UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100285 MONDO:0008867 False extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100253 MONDO:0019713 False Roberts-SC phocomelia syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100255 MONDO:0019502 False adenosine kinase deficiency autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0100280 MONDO:0019052 False Waldenstrom macroglobulinemia inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100285 MONDO:0008867 False extrahepatic biliary atresia biliary atresia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100288 MONDO:0020248 False enhanced S-cone syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100289 MONDO:0020248 False Goldmann-Favre syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100295 MONDO:0020573 False Alzheimer disease, susceptibility to, mitochondrial inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100309 MONDO:0003847 False hereditary ataxia hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100309 MONDO:0003847 False hereditary ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100309 MONDO:0100308 False hereditary ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100310 MONDO:0000437 False hereditary cerebellar ataxia cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100310 MONDO:0000437 False hereditary cerebellar ataxia cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100310 MONDO:0100309 False hereditary cerebellar ataxia hereditary ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100326 MONDO:0000009 False Glanzmann thrombasthenia inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100326 MONDO:0000009 False Glanzmann thrombasthenia inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0100327 MONDO:0019218 False hypercholanemia, familial inborn disorder of bile acid synthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100328 MONDO:0003847 False microcephaly, epilepsy, and diabetes syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100339 MONDO:0020046 False Friedreich ataxia autosomal recessive degenerative and progressive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100342 MONDO:0020665 False malignant glioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100345 MONDO:0005137 False lactose intolerance nutritional disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100345 MONDO:0020598 False lactose intolerance malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100347 MONDO:0002254 False carcinoid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100347 MONDO:0003847 False carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100342 MONDO:0020665 False malignant glioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100345 MONDO:0005137 False lactose intolerance nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0100345 MONDO:0020598 False lactose intolerance malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100347 MONDO:0002254 False carcinoid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100347 MONDO:0003847 False carcinoid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100348 MONDO:0006025 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100348 MONDO:0100500 False neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100349 MONDO:0021147 False COACH syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100370 MONDO:0005344 False acute hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100370 MONDO:0005344 False acute hepatitis B virus infection hepatitis B virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100370 MONDO:0020683 False acute hepatitis B virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100371 MONDO:0005231 False acute hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100371 MONDO:0005231 False acute hepatitis C virus infection hepatitis C virus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100371 MONDO:0020683 False acute hepatitis C virus infection acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100428 MONDO:0024537 False progressive bulbar palsy of childhood Brown-Vialetto-van Laere syndrome 1 UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100428 MONDO:0024537 False progressive bulbar palsy of childhood Brown-Vialetto-van Laere syndrome 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100433 MONDO:0018795 False ACTB-associated syndromic thrombocytopenia syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100434 MONDO:0006625 False chronic mountain sickness altitude sickness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100435 MONDO:0009717 False Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100440 MONDO:0020573 False Asperger syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0020248 False CAPN5-related vitreoretinopathy vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100450 MONDO:0700115 False CAPN5-related vitreoretinopathy proliferative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100452 MONDO:0019118 False RPE65-related dominant retinopathy inherited retinal dystrophy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100452 MONDO:0019118 False RPE65-related dominant retinopathy inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0100457 MONDO:0003847 False achalasia, familial esophageal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100457 MONDO:0008698 False achalasia, familial esophageal achalasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100460 MONDO:0020573 False tobacco addiction, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100468 MONDO:0019952 False Batten-Turner congenital myopathy congenital myopathy UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100468 MONDO:0019952 False Batten-Turner congenital myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100469 MONDO:0010528 False anosmia, isolated congenital, X-linked anosmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100470 MONDO:0005087 False reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100471 MONDO:0024298 False vitamin D deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100470 MONDO:0005087 False reactive airway disease respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100471 MONDO:0024298 False vitamin D deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100476 MONDO:0020573 False lipodystrophy, partial, acquired, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0003847 False brain malformations with or without urinary tract defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100478 MONDO:0005560 False brain malformations with or without urinary tract defects brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32624,8 +32646,8 @@ MONDO:0100486 MONDO:0011438 False adult acne acne UNSUPPORTED-MISSING UNSUPPORTE MONDO:0100488 MONDO:0015356 False CDH1-related diffuse gastric and lobular breast cancer syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100489 MONDO:0000162 False Graves disease, susceptibility to, 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100491 MONDO:0022205 False generalized pustular psoriasis pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100492 MONDO:0002254 False Bonnevie-Ullrich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100505 MONDO:0002406 False food dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100492 MONDO:0002254 False Bonnevie-Ullrich syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100505 MONDO:0002406 False food dermatitis dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100508 MONDO:0007254 False salivary gland type cancer of the breast breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100510 MONDO:0018230 False spondyloepimetaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100511 MONDO:0007263 False sudden cardiac arrest cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32637,46 +32659,46 @@ MONDO:0100526 MONDO:0020573 False breast-ovarian cancer, familial, susceptibilit MONDO:0100531 MONDO:0010680 False Emery-Dreifuss muscular dystrophy 1, X-linked X-linked Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100532 MONDO:0020573 False blepharospasm, benign essential, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100533 MONDO:0020573 False hemorrhage, intracerebral, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0200000 MONDO:0002876 False uterine ligament adenosarcoma cervical adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0200000 MONDO:0002876 False uterine ligament adenosarcoma cervical adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0400005 MONDO:0005137 False refeeding syndrome nutritional disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600002 MONDO:0005550 False hemorrhagic fever infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600008 MONDO:0005046 False cytokine release syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600023 MONDO:0021167 False idiopathic inflammatory myopathy myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600002 MONDO:0005550 False hemorrhagic fever infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600008 MONDO:0005046 False cytokine release syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600023 MONDO:0021167 False idiopathic inflammatory myopathy myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600024 MONDO:0600023 False familial idiopathic inflammatory myopathy idiopathic inflammatory myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600025 MONDO:0002156 False hydrosalpinx fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0600029 MONDO:0005275 False restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600025 MONDO:0002156 False hydrosalpinx fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0600029 MONDO:0005275 False restrictive pulmonary disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700015 MONDO:0020049 False chromosome 8 disorder autosomal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700032 MONDO:0018071 False complete trisomy 18 trisomy 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0020639 False monosomy chromosome 8 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0700015 False monosomy chromosome 8 chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700038 MONDO:0021179 False TDP-43 proteinopathy proteostasis deficiencies UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700039 MONDO:0017919 False bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700039 MONDO:0017919 False bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0700040 MONDO:0024288 False neonatal jaundice due to ABO incompatibility hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700041 MONDO:0015356 False neuroblastoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700048 MONDO:0002254 False hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700048 MONDO:0005093 False hand-foot syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0005154 False liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0005227 False liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700051 MONDO:0043424 False liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700048 MONDO:0002254 False hand-foot syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700048 MONDO:0005093 False hand-foot syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0005154 False liver abscess (disease) liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0005227 False liver abscess (disease) abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700051 MONDO:0043424 False liver abscess (disease) digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700052 MONDO:0005227 False intersphincteric abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700058 MONDO:0002173 False Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700058 MONDO:0002173 False Morton neuroma neuroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0000425 False leukemia, acute, X-linked X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700060 MONDO:0010643 False leukemia, acute, X-linked acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700064 MONDO:0019040 False aneuploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700064 MONDO:0019040 False aneuploidy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700065 MONDO:0700064 False trisomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700077 MONDO:0020573 False vitiligo-associated multiple autoimmune disease susceptibility 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0000615 False triple-positive breast carcinoma progesterone-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700078 MONDO:0006244 False triple-positive breast carcinoma HER2 positive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700078 MONDO:0006244 False triple-positive breast carcinoma HER2 positive breast carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700078 MONDO:0006512 False triple-positive breast carcinoma estrogen-receptor positive breast cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700081 MONDO:0017015 False newborn respiratory distress syndrome primary interstitial lung disease specific to childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700081 MONDO:0100131 False newborn respiratory distress syndrome pediatric acute respiratory distress syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700082 MONDO:0700128 False Robertsonian translocation Down syndrome translocation Down syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700086 MONDO:0019040 False uniparental disomy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700086 MONDO:0019040 False uniparental disomy chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700087 MONDO:0010168 False Usher syndrome type 1B Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700089 MONDO:0700088 False paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700090 MONDO:0010898 False epilepsy, familial temporal lobe, 1 autosomal dominant epilepsy with auditory features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700091 MONDO:0019040 False ring chromosome disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700092 MONDO:0005071 False neurodevelopmental disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700091 MONDO:0019040 False ring chromosome disorder chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700092 MONDO:0005071 False neurodevelopmental disorder nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700107 MONDO:0013090 False chromosome 19q13.11 deletion syndrome, distal chromosome 19q13.11 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700115 MONDO:0005283 False proliferative vitreoretinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700134 MONDO:0024913 False bovine neoplasm cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32685,10 +32707,10 @@ MONDO:0700135 MONDO:0700100 False bovine leukemia leukemia, non-human animal UNS MONDO:0700137 MONDO:1010209 False bovine lymphosarcoma lymphosarcoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700139 MONDO:0024919 False canine neoplasm dog disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700139 MONDO:0700098 False canine neoplasm neoplasm, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700140 MONDO:0700149 False canine osteosarcoma canine sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700140 MONDO:0700149 False canine osteosarcoma canine sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700140 MONDO:1010212 False canine osteosarcoma osteosarcoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700141 MONDO:0700132 False canine melanoma melanoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700142 MONDO:0700156 False canine hemangiosarcoma canine soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700142 MONDO:0700156 False canine hemangiosarcoma canine soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700142 MONDO:1011306 False canine hemangiosarcoma cardiovascular disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700143 MONDO:0025483 False canine mammary carcinoma mammary neoplasms, animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700143 MONDO:0700101 False canine mammary carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32707,10 +32729,10 @@ MONDO:0700152 MONDO:1011311 False canine hepatocellular carcinoma digestive syst MONDO:0700152 MONDO:1011317 False canine hepatocellular carcinoma endocrine system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700099 False canine lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700104 False canine lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700154 MONDO:0700156 False canine rhabdomyosarcoma canine soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700154 MONDO:0700156 False canine rhabdomyosarcoma canine soft tissue sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700155 MONDO:0700099 False canine thyroid adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700155 MONDO:1011317 False canine thyroid adenocarcinoma endocrine system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700156 MONDO:0700149 False canine soft tissue sarcoma canine sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700156 MONDO:0700149 False canine soft tissue sarcoma canine sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700157 MONDO:0700101 False canine oral squamous cell carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700157 MONDO:1011311 False canine oral squamous cell carcinoma digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700157 MONDO:1011333 False canine oral squamous cell carcinoma mouth disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32719,10 +32741,10 @@ MONDO:0700158 MONDO:0700101 False canine pancreatic carcinoma carcinoma, non-hum MONDO:0700160 MONDO:0025483 False canine mammary adenoma mammary neoplasms, animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700160 MONDO:0700133 False canine mammary adenoma adenoma, non-human UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700161 MONDO:1011311 False canine gastrointestinal stromal tumor digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700162 MONDO:0700151 False canine granular cell tumor canine glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700162 MONDO:0700151 False canine granular cell tumor canine glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700163 MONDO:1011319 False canine Langerhans cell histiocytosis hematologic disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700163 MONDO:1011330 False canine Langerhans cell histiocytosis lymphoid system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700165 MONDO:0700155 False canine thyroid gland medullary carcinoma canine thyroid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700165 MONDO:0700155 False canine thyroid gland medullary carcinoma canine thyroid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700166 MONDO:0025478 False canine transmissible venereal tumor venereal tumors, veterinary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700169 MONDO:1011328 False canine cutaneous t-cell lymphoma integumentary system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700171 MONDO:0700132 False horse melanoma melanoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32765,12 +32787,12 @@ MONDO:0700188 MONDO:0700131 False feline synovial cell sarcoma sarcoma, non-huma MONDO:0700188 MONDO:0700175 False feline synovial cell sarcoma feline neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700189 MONDO:0025113 False chicken neoplasm poultry disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700189 MONDO:0700098 False chicken neoplasm neoplasm, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700190 MONDO:0700194 False chicken bursal lymphoma chicken lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700190 MONDO:0700194 False chicken bursal lymphoma chicken lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700191 MONDO:0700131 False chicken fibrosarcoma sarcoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700191 MONDO:1011309 False chicken fibrosarcoma connective tissue disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700193 MONDO:0700100 False chicken monocytic leukemia leukemia, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700194 MONDO:0700102 False chicken lymphoma lymphoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700195 MONDO:0700191 False rous sarcoma chicken fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700195 MONDO:0700191 False rous sarcoma chicken fibrosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700196 MONDO:0024934 False fish melanoma fish disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700196 MONDO:0700132 False fish melanoma melanoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700197 MONDO:0024990 False porcine leukemia swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32781,39 +32803,39 @@ MONDO:0700199 MONDO:0024985 False sheep lung adenocarcinoma sheep disease UNSUPP MONDO:0700199 MONDO:0700099 False sheep lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700199 MONDO:0700104 False sheep lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700207 MONDO:0021147 False constitutional delay of growth and puberty disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700218 MONDO:0021680 False group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700218 MONDO:0021680 False group B streptococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700220 MONDO:0700096 False disease related to transplantation human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0003847 False hereditary gallbladder disorder hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700225 MONDO:0005281 False hereditary gallbladder disorder gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0021635 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0005395 False dyskinesia with orofacial involvement, autosomal dominant movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800030 MONDO:0002254 False gastrointestinal defects and immunodeficiency syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800031 MONDO:0003847 False central hypoventilation syndrome, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800042 MONDO:0015160 False restrictive dermopathy 1 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800042 MONDO:0021106 False restrictive dermopathy 1 laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800043 MONDO:0009717 False Stüve-Wiedemann syndrome 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800043 MONDO:0009717 False Stüve-Wiedemann syndrome 1 Schwartz-Jampel syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800044 MONDO:0045010 False congenital disorder of deglycosylation 1 glycoprotein metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800046 MONDO:0016412 False thyroid hormone metabolism, abnormal 1 peripheral hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800047 MONDO:0015372 False macrothrombocytopenia, isolated, 1, autosomal dominant autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800088 MONDO:0018230 False lysosomal storage disease with skeletal involvement skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800088 MONDO:0018230 False lysosomal storage disease with skeletal involvement skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800103 MONDO:0100349 False COACH syndrome 1 COACH syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800105 MONDO:0002025 False catatonia psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800106 MONDO:0005084 False disruptive behavior disorder mental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800107 MONDO:0002070 False anterior deviation infundibular septum ventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800108 MONDO:0000471 False cleft leaflet of tricuspid valve tricuspid valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800113 MONDO:0018882 False necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800113 MONDO:0018882 False necrotizing vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800129 MONDO:0019751 False autoinflammatory disease, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800130 MONDO:0019751 False autoinflammatory syndrome with immunodeficiency autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800132 MONDO:0003847 False autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800133 MONDO:0005087 False pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800133 MONDO:0005087 False pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800166 MONDO:0020248 False Knobloch syndrome vitreoretinal degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800175 MONDO:0005267 False cardiogenic shock heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800176 MONDO:0029000 False black widow spider envenomation poisoning UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800177 MONDO:0021178 False frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800177 MONDO:0021178 False frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800187 MONDO:0800174 False immunodeficiency 83, susceptibility to viral infections encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800188 MONDO:0020573 False malignant hyperthermia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800198 MONDO:0003847 False alopecia universalis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32826,8 +32848,8 @@ MONDO:0800444 MONDO:0002254 False Birt-Hogg-Dube syndrome syndromic disease UNSU MONDO:0800446 MONDO:0000009 False bleeding diathesis due to thromboxane synthesis deficiency inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800447 MONDO:0020573 False bleeding disorder, platelet-type, 13, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800450 MONDO:0003847 False microcephaly, short stature, and impaired glucose metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800451 MONDO:0100241 False congenital amegakaryocytic thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800452 MONDO:0009332 False congenital amegakaryocytic thrombocytopenia 1 congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800451 MONDO:0100241 False congenital amegakaryocytic thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0800452 MONDO:0009332 False congenital amegakaryocytic thrombocytopenia 1 congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800486 MONDO:0005381 False metabolic bone disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0810000 MONDO:0005328 False choroidal neovascularization eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850007 MONDO:0001854 False syndromic lacrimal system disorder lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32837,7 +32859,7 @@ MONDO:0850010 MONDO:0005328 False congenital optic disk excavation eye disorder MONDO:0850013 MONDO:0024575 False twin anemia-polycythemia sequence pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850014 MONDO:0024575 False twin-reversed arterial perfusion sequence pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850015 MONDO:0024575 False selective intrauterine growth restriction pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850030 MONDO:0016240 False complete hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850030 MONDO:0016240 False complete hemimelia hemimelia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850046 MONDO:0024575 False amniotic fluid embolism pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850048 MONDO:0023076 False classic eosinophilic pustular folliculitis eosinophilic pustular folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850049 MONDO:0002254 False painful legs and moving toes syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32847,7 +32869,7 @@ MONDO:0850058 MONDO:0001982 False chronic neurovisceral acid sphingomyelinase de MONDO:0850059 MONDO:0002254 False hereditary persistence of fetal hemoglobin-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850067 MONDO:0009453 False immune deficiency due to impaired neutrophil phagocytosis and migration immune deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850068 MONDO:0005046 False early-onset autoimmunity-autoinflammation-immunodeficiency syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850069 MONDO:0020083 False familial hyperinflammatory lymphoproliferative immunodeficiency immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850069 MONDO:0020083 False familial hyperinflammatory lymphoproliferative immunodeficiency immunodeficiency-associated lymphoproliferative disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850070 MONDO:0005046 False CADINS disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850071 MONDO:0002254 False developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850084 MONDO:0001411 False non-syndromic pansynostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32857,7 +32879,7 @@ MONDO:0850089 MONDO:0100191 False Gitelman-like kidney tubulopathy due to mitoch MONDO:0850090 MONDO:0002254 False fibrosis-neurodegeneration-cerebral angiomatosis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850094 MONDO:0005365 False drug-induced hearing loss hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850095 MONDO:0005561 False X-linked severe syndromic thoracic aortic aneurysm and dissection aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850096 MONDO:0016763 False SBDS-related severe neonatal spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850096 MONDO:0016763 False SBDS-related severe neonatal spondylometaphyseal dysplasia spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850097 MONDO:0015588 False autoimmune limbic encephalitis limbic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850099 MONDO:0016761 False MIR140-related spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850100 MONDO:0002025 False body integrity dysphoria psychiatric disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32865,29 +32887,29 @@ MONDO:0850102 MONDO:0007179 False non-specific autoimmune supratentorial encepha MONDO:0850103 MONDO:0007179 False non-specific autoimmune supratentorial encephalitis without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850105 MONDO:0007179 False non-specific autoimmune brainstem encephalitis with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850106 MONDO:0007179 False non-specific autoimmune brainstem encephalitis without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850107 MONDO:0020010 False postinfectious cerebellitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850107 MONDO:0020010 False postinfectious cerebellitis infectious disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850108 MONDO:0007179 False non-specific autoimmune cerebellar ataxia with characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850109 MONDO:0007179 False non-specific autoimmune cerebellar ataxia without characteristic antibodies autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850115 MONDO:0002254 False early-onset obesity-hyperphagia-severe developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850126 MONDO:0003125 False testicular sex cord-stromal benign neoplasm testicular sex cord-stromal neoplasm UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850144 MONDO:0005040 False germ cell benign neoplasm germ cell tumor UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850126 MONDO:0003125 False testicular sex cord-stromal benign neoplasm testicular sex cord-stromal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850144 MONDO:0005040 False germ cell benign neoplasm germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850154 MONDO:0044925 False tongue carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850225 MONDO:0004789 False autoimmune cholangitis cholangitis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850345 MONDO:0006279 False lung pleomorphic carcinoma lung sarcomatoid carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0850347 MONDO:0005611 False bladder sarcomatoid transitional cell carcinoma bladder transitional cell carcinoma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850225 MONDO:0004789 False autoimmune cholangitis cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850345 MONDO:0006279 False lung pleomorphic carcinoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0850347 MONDO:0005611 False bladder sarcomatoid transitional cell carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850415 MONDO:0100150 False rhabdomyolysis-myalgia syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858950 MONDO:0043510 False traumatic brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858997 MONDO:0004992 False cancer of unknown primary site cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859004 MONDO:0002041 False invasive scopulariopsis infection fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859005 MONDO:0021004 False preaxial digit brachydactyly-webbed fingers brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859006 MONDO:0018230 False proximal femoral focal deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859006 MONDO:0018230 False proximal femoral focal deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859046 MONDO:0005212 False rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859050 MONDO:0020573 False Schistosoma mansoni infection, susceptibility/resistance to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859080 MONDO:0020119 False intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859080 MONDO:0020119 False intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859081 MONDO:0019040 False chromosome Xq13 duplication syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859082 MONDO:0100240 False thrombophilia, X-linked, due to factor 8 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859083 MONDO:0007915 False systemic lupus erythematosus 17 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859082 MONDO:0100240 False thrombophilia, X-linked, due to factor 8 defect inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859083 MONDO:0007915 False systemic lupus erythematosus 17 systemic lupus erythematosus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859085 MONDO:0700092 False neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859136 MONDO:0700092 False Alzahrani-Kuwahara syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859137 MONDO:0700092 False neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32917,13 +32939,13 @@ MONDO:0859164 MONDO:0003847 False osteootohepatoenteric syndrome hereditary dise MONDO:0859165 MONDO:0700092 False neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859166 MONDO:0005020 False visceral leiomyopathy, African degenerative intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859167 MONDO:0003847 False hypokalemic tubulopathy and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859168 MONDO:0018943 False myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859168 MONDO:0018943 False myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy myofibrillar myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859169 MONDO:0003847 False White-Kernohan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859170 MONDO:0003847 False retinal dystrophy and microvillus inclusion disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859172 MONDO:0003664 False hemolytic disease of fetus and newborn, RH-induced hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859173 MONDO:0012061 False sick sinus syndrome 4 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859173 MONDO:0012061 False sick sinus syndrome 4 familial sick sinus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859174 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859175 MONDO:0019005 False nephronophthisis-like nephropathy 2 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859175 MONDO:0019005 False nephronophthisis-like nephropathy 2 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859176 MONDO:0700092 False neurodevelopmental disorder with motor and speech delay and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859177 MONDO:0003847 False VISS syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859178 MONDO:0003847 False developmental delay, impaired speech, and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32968,7 +32990,7 @@ MONDO:0859218 MONDO:0003847 False developmental delay with variable neurologic a MONDO:0859219 MONDO:0003847 False Rauch-Steindl syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859220 MONDO:0700092 False Ferguson-Bonni neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859221 MONDO:0700092 False Yoon-Bellen neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859222 MONDO:0018677 False heterotaxy, visceral, 12, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859222 MONDO:0018677 False heterotaxy, visceral, 12, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859223 MONDO:0015286 False congenital disorder of glycosylation, type Iw, autosomal dominant congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859224 MONDO:0003847 False intellectual disability and myopathy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859225 MONDO:0700092 False neurodevelopmental disorder with or without variable movement or behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32977,16 +32999,16 @@ MONDO:0859229 MONDO:0003847 False cerebellar dysfunction, impaired intellectual MONDO:0859230 MONDO:0003847 False Kury-Isidor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859231 MONDO:0003847 False macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859232 MONDO:0700092 False neurodevelopmental disorder with central hypotonia and dysmorphic facies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859233 MONDO:0017612 False epidermolysis bullosa, junctional 6, with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859235 MONDO:0021944 False auditory neuropathy, autosomal dominant 3 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859233 MONDO:0017612 False epidermolysis bullosa, junctional 6, with pyloric atresia junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0859235 MONDO:0021944 False auditory neuropathy, autosomal dominant 3 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859236 MONDO:0700092 False neurodevelopmental disorder with neuromuscular and skeletal abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859238 MONDO:0032766 False hypoalphalipoproteinemia, primary, 2, intermediate hypoalphalipoproteinemia, primary, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859238 MONDO:0032766 False hypoalphalipoproteinemia, primary, 2, intermediate hypoalphalipoproteinemia, primary, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859239 MONDO:0700092 False Chilton-Okur-Chung neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859240 MONDO:0003847 False intellectual developmental disorder with or without peripheral neuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859241 MONDO:0005559 False neurodegeneration, childhood-onset, with progressive microcephaly neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859243 MONDO:0700092 False neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859244 MONDO:0003847 False phosphoribosylaminoimidazole carboxylase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859246 MONDO:0019046 False leukodystrophy, childhood-onset, remitting leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859246 MONDO:0019046 False leukodystrophy, childhood-onset, remitting leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859247 MONDO:0003847 False neurocardiofaciodigital syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859248 MONDO:0018102 False corneal dystrophy, punctiform and polychromatic pre-descemet corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859249 MONDO:0700092 False parenti-mignot neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33031,7 +33053,7 @@ MONDO:0859297 MONDO:0700092 False neurodevelopmental disorder with dysmorphic fa MONDO:0859298 MONDO:0700092 False neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859301 MONDO:0700092 False neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859302 MONDO:0003847 False hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859303 MONDO:0003847 False intellectual developmental disorder with ocular anomalies and distinctive facial features hereditary disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859303 MONDO:0003847 False intellectual developmental disorder with ocular anomalies and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0859304 MONDO:0005559 False neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859305 MONDO:0700092 False neurodevelopmental disorder with eye movement abnormalities and ataxia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859306 MONDO:0003847 False developmental delay with variable intellectual disability and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33056,7 +33078,7 @@ MONDO:0859351 MONDO:0003847 False obesity and hypopigmentation hereditary diseas MONDO:0859355 MONDO:0016382 False inflammatory poikiloderma with hair abnormalities and acral keratoses hereditary poikiloderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859361 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859365 MONDO:0700092 False neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859368 MONDO:0000453 False short QT syndrome 7 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859368 MONDO:0000453 False short QT syndrome 7 short QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0859369 MONDO:0003847 False joint contractures, osteochondromas, and B-cell lymphoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859370 MONDO:0003847 False respiratory infections, recurrent, and failure to thrive with or without diarrhea hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859371 MONDO:0020573 False rhabdomyolysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33072,11 +33094,11 @@ MONDO:0859530 MONDO:0005336 False myopathy, sarcoplasmic body myopathy UNSUPPORT MONDO:0859531 MONDO:0700092 False neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859532 MONDO:0000119 False congenital heart defects, multiple types, 9 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957003 MONDO:0003847 False hereditary neuro-ophthalmological disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957008 MONDO:0020022 False hereditary cerebral malformation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957018 MONDO:0019751 False autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957008 MONDO:0020022 False hereditary cerebral malformation central nervous system malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957018 MONDO:0019751 False autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957048 MONDO:0003004 False isolated macular dystrophy macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957097 MONDO:0001549 False hereditary hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957097 MONDO:0021181 False hereditary hemolytic uremic syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957097 MONDO:0001549 False hereditary hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957097 MONDO:0021181 False hereditary hemolytic uremic syndrome inherited blood coagulation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957204 MONDO:0003847 False autoinflammation with pulmonary and cutaneous vasculitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957210 MONDO:0003847 False neurooculorenal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957211 MONDO:0003847 False neurodegeneration and seizures due to copper transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33089,13 +33111,12 @@ MONDO:0957268 MONDO:0003847 False hypersulfaturia hereditary disease UNSUPPORTED MONDO:0957271 MONDO:0019751 False autoinflammatory disease, systemic, with vasculitis autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957271 MONDO:0023603 False autoinflammatory disease, systemic, with vasculitis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957273 MONDO:0019548 False Charcot-Marie-Tooth disease, dominant intermediate A autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957279 MONDO:0021944 False auditory neuropathy, autosomal dominant 2 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957279 MONDO:0021944 False auditory neuropathy, autosomal dominant 2 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957303 MONDO:0003847 False palmoplantar keratoderma, epidermolytic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957307 MONDO:0003847 False woolly hair-skin fragility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957314 MONDO:0019200 False retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957314 MONDO:0019200 False retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957316 MONDO:0003847 False epidermolytic hyperkeratosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957316 MONDO:0045011 False epidermolytic hyperkeratosis keratinization disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957317 MONDO:0003847 False hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957318 MONDO:0008171 False nephrolithiasis, calcium oxalate nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957318 MONDO:0100191 False nephrolithiasis, calcium oxalate inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957319 MONDO:0100323 False pseudohypoaldosteronism, type I inherited pseudohypoaldosteronism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33104,16 +33125,16 @@ MONDO:0957341 MONDO:0005041 False secondary early-onset glaucoma glaucoma UNSUPP MONDO:0957386 MONDO:0100500 False neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957400 MONDO:0002254 False cataracts, hearing impairment, nephrotic syndrome, and enterocolitis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957400 MONDO:0003847 False cataracts, hearing impairment, nephrotic syndrome, and enterocolitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957403 MONDO:0015137 False periodic fever syndrome of childhood periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957405 MONDO:0019751 False granulomatous autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957408 MONDO:0019751 False type 1 interferonopathy of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957403 MONDO:0015137 False periodic fever syndrome of childhood periodic fever syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957405 MONDO:0019751 False granulomatous autoinflammatory syndrome of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957408 MONDO:0019751 False type 1 interferonopathy of childhood autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957423 MONDO:0021156 False immunotherapy induced hypophysitis hypophysitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957427 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957428 MONDO:0004947 False B-lymphoblastic leukemia/lymphoma with t(17;19) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957430 MONDO:0005090 False childhood-onset schizophrenia schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957431 MONDO:0018912 False endogenous Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957431 MONDO:0018912 False endogenous Cushing syndrome Cushing syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957432 MONDO:0004001 False neonatal compartment syndrome compartment syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957433 MONDO:0020292 False primary pulmonary vein stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957433 MONDO:0020292 False primary pulmonary vein stenosis congenital anomaly of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957452 MONDO:0005385 False segmental arterial mediolysis vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957459 MONDO:0003749 False congenital esophageal stenosis esophageal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957460 MONDO:0006807 False spontaneous intestinal perforation intestinal perforation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33139,7 +33160,7 @@ MONDO:0957561 MONDO:0800174 False encephalitis, acute, infection-induced, suscep MONDO:0957563 MONDO:0003847 False cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957564 MONDO:0003847 False congenital smooth muscle hamartoma, with or without hemihypertrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957575 MONDO:0003847 False amegakaryocytic thrombocytopenia, congenital, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957577 MONDO:0008297 False variegate porphyria, childhood-onset variegate porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957577 MONDO:0008297 False variegate porphyria, childhood-onset variegate porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957583 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957588 MONDO:0100500 False neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957599 MONDO:0003847 False epilepsy, early-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33152,10 +33173,10 @@ MONDO:0957787 MONDO:0003847 False Fliedner-Zweier syndrome hereditary disease UN MONDO:0957790 MONDO:0003847 False immune dysregulation, autoimmunity, and autoinflammation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957791 MONDO:0100500 False neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957795 MONDO:0003847 False arrhythmogenic cardiomyopathy with variable ectodermal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957807 MONDO:0018037 False hyper-IgE syndrome 6, autosomal dominant, with recurrent infections hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957807 MONDO:0018037 False hyper-IgE syndrome 6, autosomal dominant, with recurrent infections hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957810 MONDO:0003847 False developmental delay, dysmorphic facies, and brain anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957811 MONDO:0018965 False Alport syndrome 3b, autosomal recessive Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957813 MONDO:0019064 False spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957811 MONDO:0018965 False Alport syndrome 3b, autosomal recessive Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0957813 MONDO:0019064 False spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957815 MONDO:0003847 False developmental delay with or without epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957832 MONDO:0003847 False craniometadiaphyseal osteosclerosis with hip dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957919 MONDO:0002254 False Lui-Jee-Baron syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33172,7 +33193,9 @@ MONDO:0958001 MONDO:0003847 False Alfadhel syndrome hereditary disease UNSUPPORT MONDO:0958005 MONDO:0002254 False Hoxha-Aliu syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958005 MONDO:0003847 False Hoxha-Aliu syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958006 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Guo-Campeau type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958034 MONDO:0020088 False lipodystrophy, familial partial, type 9 familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0958037 MONDO:0000158 False developmental dysplasia of the hip 3 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000014 MONDO:0000426 False familial antiphospholipid syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000014 MONDO:8000010 False familial antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000018 MONDO:0018751 False benign paroxysmal positional vertigo hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33180,4 +33203,4 @@ MONDO:8000018 MONDO:0037940 False benign paroxysmal positional vertigo inherited MONDO:8000019 MONDO:0004900 False vertigo, benign recurrent, 1 peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0018751 False vertigo, benign recurrent, 1 hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000019 MONDO:0037940 False vertigo, benign recurrent, 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:8000023 MONDO:0017979 False type 3 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000023 MONDO:0017979 False type 3 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index d9405dfc..57d9544b 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,34 +1,10 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0957597 li-fraumeni syndrome OMIMPS:151623 MONDO:equivalentTo Li-Fraumeni syndrome -MONDO:0958027 fg syndrome OMIMPS:305450 MONDO:equivalentTo FG syndrome -MONDO:0958030 immunodeficiency 118 OMIM:301115 MONDO:equivalentTo immunodeficiency 118 MONDO:0021094 -MONDO:0958034 lipodystrophy, familial partial, iia 9 OMIM:620683 MONDO:equivalentTo lipodystrophy, familial partial, iia 9 -MONDO:0958035 premature ovarian failure 23 OMIM:620686 MONDO:equivalentTo premature ovarian failure 23 MONDO:0019852 -MONDO:0958037 developmental dysplasia of the hip 3 OMIM:620690 MONDO:equivalentTo developmental dysplasia of the hip 3 -MONDO:0958039 myoclonic epilepsy of lafora OMIMPS:254780 MONDO:equivalentTo Myoclonic epilepsy of Lafora -MONDO:0958040 supranuclear palsy, progressive OMIMPS:601104 MONDO:equivalentTo Supranuclear palsy, progressive -MONDO:0958174 basal cell nevus syndrome 1 OMIM:109400 MONDO:equivalentTo basal cell nevus syndrome 1 MONDO:0007187 -MONDO:0958175 craniofacial microsomia 1 OMIM:164210 MONDO:equivalentTo craniofacial microsomia 1 MONDO:0015397 -MONDO:0958176 oculopharyngeal muscular dystrophy 1 OMIM:164300 MONDO:equivalentTo oculopharyngeal muscular dystrophy 1 MONDO:0008116 -MONDO:0958177 chronic recurrent multifocal osteomyelitis 3 OMIM:259680 MONDO:equivalentTo chronic recurrent multifocal osteomyelitis 3 MONDO:0009813 -MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 OMIM:301108 MONDO:equivalentTo cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 MONDO:0957400 -MONDO:0958179 glycine encephalopathy 1 OMIM:605899 MONDO:equivalentTo glycine encephalopathy 1 MONDO:0011612 -MONDO:0958180 prolonged electroretinal response suppression 1 OMIM:608415 MONDO:equivalentTo prolonged electroretinal response suppression 1 MONDO:0012033 -MONDO:0958181 mitochondrial trifunctional protein deficiency 1 OMIM:609015 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 1 MONDO:0012172 -MONDO:0958182 c1q deficiency 1 OMIM:613652 MONDO:equivalentTo c1q deficiency 1 MONDO:0013343 -MONDO:0958183 leber-like hereditary optic neuropathy, autosomal recessive 1 OMIM:619382 MONDO:equivalentTo leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0030309|MONDO:0100223 -MONDO:0958184 epidermolytic hyperkeratosis 2 OMIM:620150 MONDO:equivalentTo epidermolytic hyperkeratosis 2 MONDO:0957316 -MONDO:0958185 mitochondrial trifunctional protein deficiency 2 OMIM:620300 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 2 MONDO:0012172 -MONDO:0958186 hematuria, benign familial, 2 OMIM:620320 MONDO:equivalentTo hematuria, benign familial, 2 MONDO:0957317 -MONDO:0958187 c1q deficiency 2 OMIM:620321 MONDO:equivalentTo c1q deficiency 2 MONDO:0013343 -MONDO:0958188 c1q deficiency 3 OMIM:620322 MONDO:equivalentTo c1q deficiency 3 MONDO:0013343 -MONDO:0958189 basal cell nevus syndrome 2 OMIM:620343 MONDO:equivalentTo basal cell nevus syndrome 2 MONDO:0007187 -MONDO:0958190 prolonged electroretinal response suppression 2 OMIM:620344 MONDO:equivalentTo prolonged electroretinal response suppression 2 MONDO:0012033 -MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis OMIM:620374 MONDO:equivalentTo nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis MONDO:0957318 -MONDO:0958192 glycine encephalopathy 2 OMIM:620398 MONDO:equivalentTo glycine encephalopathy 2 MONDO:0011612 -MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 OMIM:620425 MONDO:equivalentTo cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 MONDO:0957400 -MONDO:0958194 craniofacial microsomia 2 OMIM:620444 MONDO:equivalentTo craniofacial microsomia 2 MONDO:0015397 -MONDO:0958195 oculopharyngeal muscular dystrophy 2 OMIM:620460 MONDO:equivalentTo oculopharyngeal muscular dystrophy 2 MONDO:0008116 -MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay OMIM:620465 MONDO:equivalentTo epilepsy, early-onset, 3, with or without developmental delay MONDO:0957599 -MONDO:0958197 leber-like hereditary optic neuropathy, autosomal recessive 2 OMIM:620569 MONDO:equivalentTo leber-like hereditary optic neuropathy, autosomal recessive 2 MONDO:0030309 +MONDO:0958199 myoclonic epilepsy of lafora 1 OMIM:254780 MONDO:equivalentTo myoclonic epilepsy of lafora 1 +MONDO:0958200 intellectual developmental disorder, x-linked 113 OMIM:301116 MONDO:equivalentTo intellectual developmental disorder, X-linked 113 +MONDO:0958201 myoclonic epilepsy of lafora 2 OMIM:620681 MONDO:equivalentTo myoclonic epilepsy of lafora 2 +MONDO:0958202 moyamoya disease 7 OMIM:620687 MONDO:equivalentTo moyamoya disease 7 +MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 OMIM:620688 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 74 +MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 OMIM:620700 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 81 +MONDO:0958205 yuksel-vogel-bauer syndrome OMIM:620703 MONDO:equivalentTo yuksel-vogel-bauer syndrome +MONDO:0958206 spermatogenic failure 89 OMIM:620705 MONDO:equivalentTo spermatogenic failure 89